Belgian Genetic Tests database- Analytes
- JAG1
JAG1
| Name: |
jagged canonical Notch ligand 1
|
| Symbol: |
JAG1
|
| Version of Orphanet: |
2023-06-22 14:14:43
|
| Synonyms: |
AHD
AWS
CD339
HJ1
|
| XREF(s): | |
| Created: |
13 May 2019 - 01:01
|
| Changed: |
22 Jun 2023 - 16:14
|
- Alagille syndrome (2 genes)
- Aneurysm, Thoracic Aortic, familial (gene panel)
- Cholestasis (gene panel)
- Ciliopathy / polycystic kidney and liver diseases / ADTKD/ nephronophtisis / Bardet-Biedl syndromes and kidney cancers (gene panel)
- Congenital malformation (gene panel - 1721 genes)
- Congenital malformation gene panel
- Congenital structural heart defects (gene panel)
- End-stage renal disease, ESRD (gene panel)
- Heart / Cardio disorders / Cardiopathy (gene panel)
- Hepatology (gene panel)
- Inherited Kidney Diseases (Gene Panel)
- Intellectual disability & Epilepsy (gene panel)
- Intellectual disability (virtual gene panel)
- Nephrogenetics / Nephropathy (gene panel)
- Nephropathies, hereditary (gene panel)
- Neurodevelopmental disorders (1300 genes)
- Neurodevelopmental disorders gene panel
- Neuropathy (gene panel)
- Peripheral neuropathy (gene panel)
- Primary ciliary dyskinesia (PCD) Heterotaxyies (gene panel)
- Renal or urinary tract malformation (CAKUT) (gene panel)
- Retinal dystrophy / RETNET (gene panel)
- Skeletal dysplasia (gene panel)
- Stroke (gene panel)
- Thyroid disgenesis (38 genes)
-
Alagille (2 genes) -UCL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments NOTCH2 JAG1 -
Alagille syndrome (2 genes) - UCL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments JAG1 100.00 1 Part of Custom Gastro-pneumo panel NOTCH2 100.00 1 Part of Custom Gastro-pneumo panel -
Cakut (congenital anomalies of the kidney and urinary tract-1) (69 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACE 100.00 1 NM_000789.4 ACTG2 100.00 1 NM_001615.4 AGT 100.00 1 NM_001384479.1 AGTR1 100.00 1 NM_000685.5 ANOS1 100.00 1 NM_000216.4 BMP4 100.00 1 NM_001202.6 BMP7 100.00 1 NM_001719.3 CDC5L 100.00 1 NM_001253.4 CHD1L 100.00 1 NM_004284.6 CHD7 100.00 1 NM_017780.4 DSTYK 100.00 1 NM_015375.3 EYA1 100.00 1 NM_000503.6 FGF20 100.00 1 NM_019851.3 FRAS1 100.00 1 NM_025074.7 FREM1 100.00 1 NM_001379081.2 FREM2 100.00 1 NM_207361.6 GATA3 100.00 1 NM_001002295.2 GLI3 100.00 1 NM_000168.6 GREB1L 100.00 1 NM_001142966.3 GRIP1 100.00 1 NM_001366722.1 HNF1B 100.00 1 NM_000458.4 ITGA8 100.00 1 NM_003638.3 NOTCH2 99.00 1 NM_024408.4 NPHP3 100.00 1 NM_153240.5 PAX2 100.00 1 NM_000278.5 PBX1 100.00 1 NM_002585.4 REN 100.00 1 NM_000537.4 RET 100.00 1 NM_020975.6 ROBO2 100.00 1 NM_001395656.1 RPGRIP1L 96.00 1 NM_015272.5 SALL1 100.00 1 NM_002968.3 SALL4 100.00 1 NM_020436.5 SIX1 100.00 1 NM_005982.4 SIX2 100.00 1 NM_016932.5 SIX5 100.00 1 NM_175875.5 SOX17 100.00 1 NM_022454.4 TBX18 100.00 1 NM_001080508.3 UMOD 100.00 1 NM_003361.4 UPK3A 100.00 1 NM_006953.4 WNT4 100.00 1 NM_030761.5 AGTR2 100.00 1 NM_000686.5 AGXT 100.00 1 NM_000030.3 BNC2 100.00 1 NM_017637.6 CCNQ 100.00 1 NM_152274.5 CEP55 100.00 1 NM_018131.5 CHRM3 100.00 1 NM_001375978.1 CHRNA3 100.00 1 NM_000743.5 CTU2 100.00 1 NM_001012759.3 FOXC1 100.00 1 NM_001453.3 GPC3 100.00 1 NM_004484.4 HOXA13 100.00 1 NM_000522.5 HPSE2 100.00 1 NM_021828.5 JAG1 100.00 1 NM_000214.3 KIF14 100.00 1 NM_014875.3 LIFR 100.00 1 NM_001127671.2 LRIG2 100.00 1 NM_014813.3 LRP4 100.00 1 NM_002334.4 NADSYN1 100.00 1 NM_018161.5 ROBO1 100.00 1 NM_002941.4 SDCCAG8 100.00 1 NM_006642.5 SLIT2 100.00 1 NM_004787.4 STRA6 100.00 1 NM_022369.4 TBC1D1 100.00 1 NM_001396959.1 TFAP2A 100.00 1 NM_001372066.1 TMEM260 100.00 1 NM_017799.4 TRAP1 100.00 1 NM_016292.3 WFS1 100.00 1 NM_006005.3 ZIC3 100.00 1 NM_003413.4 ZMYM2 100.00 1 NM_197968.4 -
Cholestasis (40 genes) - UCL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCB11 100.00 1 Part of Gastro-pneumo panel ABCB4 100.00 1 Part of Gastro-pneumo panel AKR1D1 100.00 1 Part of Gastro-pneumo panel AMACR 100.00 1 Part of Gastro-pneumo panel ATP8B1 100.00 1 Part of Gastro-pneumo panel BAAT 100.00 1 Part of Gastro-pneumo panel BCS1L 100.00 1 Part of Gastro-pneumo panel CC2D2A 100.00 1 Part of Gastro-pneumo panel CLDN1 100.00 1 Part of Gastro-pneumo panel CYP27A1 100.00 1 Part of Gastro-pneumo panel CYP7B1 100.00 1 Part of Gastro-pneumo panel DCDC2 100.00 1 Part of Gastro-pneumo panel DGUOK 100.00 1 Part of Gastro-pneumo panel HNF1B 100.00 1 Part of Gastro-pneumo panel HSD3B7 100.00 1 Part of Gastro-pneumo panel INVS 100.00 1 Part of Gastro-pneumo panel JAG1 100.00 1 Part of Gastro-pneumo panel MKS1 100.00 1 Part of Gastro-pneumo panel MPV17 100.00 1 Part of Gastro-pneumo panel NOTCH2 100.00 1 Part of Gastro-pneumo panel NPC1 100.00 1 Part of Gastro-pneumo panel NPC2 100.00 1 Part of Gastro-pneumo panel NPHP1 100.00 1 Part of Gastro-pneumo panel NPHP3 100.00 1 Part of Gastro-pneumo panel NPHP4 100.00 1 Part of Gastro-pneumo panel NR1H4 100.00 1 Part of Gastro-pneumo panel PKHD1 100.00 1 Part of Gastro-pneumo panel PNPLA3 0.00 1 Part of Gastro-pneumo panel / only rs738409 and rs2294918 POLG 100.00 1 Part of Gastro-pneumo panel SLC25A13 100.00 1 Part of Gastro-pneumo panel SMPD1 100.00 1 Part of Gastro-pneumo panel TALDO1 100.00 1 Part of Gastro-pneumo panel TJP2 100.00 1 Part of Gastro-pneumo panel TM6SF2 0.00 1 Part of Gastro-pneumo panel / only rs58542926 TMC4 0.00 1 Part of Gastro-pneumo panel / only rs641738 TMEM216 100.00 1 Part of Gastro-pneumo panel TRMU 100.00 1 Part of Gastro-pneumo panel UGT1A1 100.00 1 Part of Gastro-pneumo panel VIPAS39 100.00 1 Part of Gastro-pneumo panel VPS33B 100.00 1 Part of Gastro-pneumo panel -
Ciliopathy, polycystic kidney and liver diseases, ADTKD, nephronophtisis, Bardet-Biedl syndromes and kidney cancers (146 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ADAMTS9 100.00 1 NM_182920.2 ALG8 100.00 1 NM_024079.5 ANKS6 100.00 1 NM_173551.5 ARL6 100.00 1 NM_001278293.3 BBIP1 100.00 1 NM_001195305.3 BBS1 100.00 1 NM_024649.5 BBS10 100.00 1 NM_024685.4 BBS12 100.00 1 NM_152618.3 BBS2 100.00 1 NM_031885.5 BBS4 100.00 1 NM_033028.5 BBS5 100.00 1 NM_152384.3 BBS7 100.00 1 NM_176824.3 BBS9 100.00 1 NM_198428.3 CDC73 100.00 1 NM_024529.5 CEP164 100.00 1 NM_014956.5 CEP290 100.00 1 NM_025114.4 CEP83 100.00 1 NM_016122.3 COL4A1 100.00 1 NM_001845.6 COL4A3 100.00 1 NM_000091.5 COL4A4 100.00 1 NM_000092.5 COL4A5 100.00 1 NM_033380.3 DCDC2 100.00 1 NM_016356.5 DNAJB11 100.00 1 NM_016306.6 DZIP1L 100.00 1 NM_173543.3 EYA1 100.00 1 NM_000503.6 FAN1 100.00 1 NM_014967.5 FH 100.00 1 NM_000143.4 FLCN 100.00 1 NM_144997.7 GANAB 100.00 1 NM_198334.3 GATA3 100.00 1 NM_001002295.2 GATM 100.00 1 NM_001482.3 GLIS2 100.00 1 NM_032575.3 HNF1B 100.00 1 NM_000458.4 IFT172 100.00 1 NM_015662.3 IFT27 100.00 1 NM_001177701.3 INVS 100.00 1 NM_014425.5 IQCB1 100.00 1 NM_001023570.4 LRP5 100.00 1 NM_002335.4 LRP6 100.00 1 NM_002336.3 LZTFL1 100.00 1 NM_020347.4 MAPKBP1 100.00 1 NM_014994.3 MET 100.00 1 NM_000245.4 MKKS 100.00 1 NM_170784.3 MKS1 100.00 1 NM_017777.4 NEK8 100.00 1 NM_178170.3 NOTCH2 99.00 1 NM_024408.4 NPHP1 100.00 1 NM_001128178.3 NPHP3 100.00 1 NM_153240.5 NPHP4 100.00 1 NM_015102.5 OFD1 100.00 1 NM_003611.3 PAX2 100.00 1 NM_000278.5 PKD1 100.00 1 NM_001009944.3 PKD2 100.00 1 NM_000297.4 PKHD1 100.00 1 NM_138694.4 PMM2 0.00 1 NM_000303.2 une seule position PRKCSH 100.00 1 NM_001289104.2 PTEN 100.00 1 NM_000314.8 REN 100.00 1 NM_000537.4 RPGRIP1L 96.00 1 NM_015272.5 SDCCAG8 100.00 1 NM_006642.5 SDHB 100.00 1 NM_003000.3 SDHD 100.00 1 NM_003002.4 SEC61A1 100.00 1 NM_013336.4 SEC63 100.00 1 NM_007214.5 TMEM67 100.00 1 NM_153704.6 TRIM32 100.00 1 NM_012210.4 TSC1 100.00 1 NM_000368.5 TSC2 100.00 1 NM_000548.5 TTC21B 100.00 1 NM_024753.5 TTC8 100.00 1 NM_144596.4 UMOD 100.00 1 NM_003361.4 VHL 100.00 1 NM_000551.4 WDPCP 100.00 1 NM_015910.7 WDR19 100.00 1 NM_025132.4 XPNPEP3 100.00 1 NM_022098.4 ZNF423 100.00 1 NM_001379286.1 AHI1 100.00 1 NM_001134831.2 ALG5 100.00 1 NM_013338.5 ALG9 100.00 1 NM_024740.2 ARL13B 100.00 1 NM_001174150.2 ARL3 100.00 1 NM_004311.4 ARMC9 100.00 1 NM_001352754.2 ATXN10 100.00 1 NM_013236.4 B9D1 100.00 1 NM_015681.6 B9D2 100.00 1 NM_030578.4 BAP1 100.00 1 NM_004656.4 C2CD3 100.00 1 NM_001286577.2 CC2D2A 100.00 1 NM_001378615.1 CCDC28B 100.00 1 NM_024296.5 CEP104 100.00 1 NM_014704.4 CEP120 100.00 1 NM_001375405.1 CEP41 100.00 1 NM_018718.3 CFAP418 100.00 1 NM_177965.4 CPLANE1 100.00 1 NM_001384732.1 CSPP1 100.00 1 NM_001382391.1 CYP24A1 100.00 1 NM_000782.5 DLG5 100.00 1 NM_004747.4 DYNC2H1 100.00 1 NM_001377.3 DYNC2I1 100.00 1 NM_018051.5 DYNC2I2 100.00 1 NM_052844.4 DYNC2LI1 100.00 1 NM_016008.4 DYNLT2B 100.00 1 NM_152773.5 EVC 100.00 1 NM_153717.3 EVC2 100.00 1 NM_147127.5 FAM149B1 100.00 1 NM_173348.2 HNF1A 100.00 1 NM_000545.8 HYLS1 100.00 1 NM_001134793.2 IFT122 100.00 1 NM_052989.3 IFT140 100.00 1 NM_014714.4 IFT43 100.00 1 NM_001102564.3 IFT52 100.00 1 NM_016004.5 IFT74 100.00 1 NM_025103.4 IFT80 100.00 1 NM_020800.3 IFT81 100.00 1 NM_014055.4 INPP5E 100.00 1 NM_019892.6 INTU 100.00 1 NM_015693.4 JAG1 100.00 1 NM_000214.3 KATNIP 100.00 1 NM_015202.5 KIAA0586 100.00 1 NM_001329943.3 KIAA0753 100.00 1 NM_014804.3 KIF14 100.00 1 NM_014875.3 KIF7 100.00 1 NM_198525.3 NEK1 100.00 1 NM_001199397.3 PARN 100.00 1 NM_002582.4 PDE6D 100.00 1 NM_002601.4 PIBF1 100.00 1 NM_006346.4 POC1B 100.00 1 NM_172240.3 RNF139 100.00 1 NM_007218.4 SDHA 100.00 1 NM_004168.4 SDHC 100.00 1 NM_003001.5 SEC61B 100.00 1 NM_006808.3 SLC41A1 100.00 1 NM_173854.6 SREBF1 100.00 1 NM_004176.5 SUFU 100.00 1 NM_016169.4 TCTN1 100.00 1 NM_001082538.3 TCTN2 100.00 1 NM_024809.5 TCTN3 100.00 1 NM_015631.6 TFAP2A 100.00 1 NM_001372066.1 TMEM107 100.00 1 NM_183065.4 TMEM138 100.00 1 NM_016464.5 TMEM216 100.00 1 NM_001173990.3 TMEM218 100.00 1 NM_001258244.2 TMEM231 100.00 1 NM_001077418.3 TMEM237 100.00 1 NM_001044385.3 TOGARAM1 100.00 1 NM_001308120.2 TRAF3IP1 100.00 1 NM_015650.4 TXNDC15 100.00 1 NM_024715.4 WDR35 100.00 1 NM_020779.4 -
Congenital heart disease (29 genes) - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ANK3 0.00 0 No value for column 2 BMPR2 0.00 0 No value for column 2 BRAF 0.00 0 No value for column 2 CFC1 0.00 0 No value for column 2 CITED2 0.00 0 No value for column 2 CRELD1 0.00 0 No value for column 2 GATA4 0.00 0 No value for column 2 GATA5 0.00 0 No value for column 2 GATA6 0.00 0 No value for column 2 GDF1 0.00 0 No value for column 2 GJA1 0.00 0 No value for column 2 HAND1 0.00 0 No value for column 2 HAND2 0.00 0 No value for column 2 JAG1 0.00 0 No value for column 2 KRAS 0.00 0 No value for column 2 MAP2K1 0.00 0 No value for column 2 MAP2K2 0.00 0 No value for column 2 MED13L 0.00 0 No value for column 2 NKX2-5 0.00 0 No value for column 2 NKX2-6 0.00 0 No value for column 2 PRKAG2 0.00 0 No value for column 2 PRKAR1A 0.00 0 No value for column 2 SMAD3 0.00 0 No value for column 2 TBX1 0.00 0 No value for column 2 TBX20 0.00 0 No value for column 2 TBX3 0.00 0 No value for column 2 TBX5 0.00 0 No value for column 2 TLL1 0.00 0 No value for column 2 ZFPM2 0.00 0 No value for column 2 -
Congenital malformation (1721 genes) - ULB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AAAS 0.00 0 , AARS1 0.00 0 , AASS 0.00 0 , ABAT 0.00 0 , ABCA12 0.00 0 , ABCC6 0.00 0 , ABCC9 0.00 0 , ABCD1 0.00 0 , ABCD3 0.00 0 , ABCD4 0.00 0 , ABHD5 0.00 0 , ABL1 0.00 0 , ACAD9 0.00 0 , ACADVL 0.00 0 , ACAN 0.00 0 , ACE 0.00 0 , ACO2 0.00 0 , ACOX1 0.00 0 , ACP5 0.00 0 , ACSL4 0.00 0 , ACTA1 0.00 0 , ACTA2 0.00 0 , ACTB 0.00 0 , ACTC1 0.00 0 , ACTG1 0.00 0 , ACTG2 0.00 0 , ACVR1 0.00 0 , ACVR2B 0.00 0 , ACY1 0.00 0 , ADAMTS10 0.00 0 , ADAMTS17 0.00 0 , ADAMTS3 0.00 0 , ADAMTSL2 0.00 0 , ADAR 0.00 0 , ADGRG1 0.00 0 , ADGRG6 0.00 0 , ADNP 0.00 0 , ADSL 0.00 0 , AFF3 0.00 0 , AFF4 0.00 0 , AGK 0.00 0 , AGL 0.00 0 , AGPS 0.00 0 , AHCY 0.00 0 , AHDC1 0.00 0 , AHI1 0.00 0 , AIFM1 0.00 0 , AIMP1 0.00 0 , AIPL1 0.00 0 , AIRE 0.00 0 , AKR1C2 0.00 0 , AKT1 0.00 0 , AKT2 0.00 0 , AKT3 0.00 0 , ALDH18A1 0.00 0 , ALDH1A3 0.00 0 , ALDH3A2 0.00 0 , ALDH7A1 0.00 0 , ALDOA 0.00 0 , ALG1 0.00 0 , ALG11 0.00 0 , ALG12 0.00 0 , ALG13 0.00 0 , ALG2 0.00 0 , ALG3 0.00 0 , ALG6 0.00 0 , ALG8 0.00 0 , ALG9 0.00 0 , ALMS1 0.00 0 , ALOX12B 0.00 0 , ALOXE3 0.00 0 , ALPL 0.00 0 , ALX1 0.00 0 , ALX3 0.00 0 , ALX4 0.00 0 , AMACR 0.00 0 , AMBRA1 0.00 0 , AMER1 0.00 0 , AMMECR1 0.00 0 , AMPD2 0.00 0 , AMT 0.00 0 , ANAPC1 0.00 0 , ANKH 0.00 0 , ANKRD11 0.00 0 , ANKRD26 0.00 0 , ANKS6 0.00 0 , ANOS1 0.00 0 , ANTXR1 0.00 0 , ANTXR2 0.00 0 , AP1S2 0.00 0 , AP3B2 0.00 0 , AP4B1 0.00 0 , AP4E1 0.00 0 , AP4M1 0.00 0 , AP4S1 0.00 0 , AR 0.00 0 , ARCN1 0.00 0 , ARFGEF2 0.00 0 , ARHGAP29 0.00 0 , ARHGAP31 0.00 0 , ARID1A 0.00 0 , ARID1B 0.00 0 , ARID2 0.00 0 , ARL13B 0.00 0 , ARL3 0.00 0 , ARL6 0.00 0 , ODAD2 0.00 0 , ARMC9 0.00 0 , ARSA 0.00 0 , SLURP1 0.00 0 , ARSL 0.00 0 , ARVCF 0.00 0 , ARX 0.00 0 , ASAH1 0.00 0 , ASCC1 0.00 0 , ASNS 0.00 0 , ASPA 0.00 0 , ASPH 0.00 0 , ASPM 0.00 0 , ASS1 0.00 0 , ASXL1 0.00 0 , ASXL2 0.00 0 , ASXL3 0.00 0 , ATAD3A 0.00 0 , ATIC 0.00 0 , ATL1 0.00 0 , ATM 0.00 0 , ATP1A2 0.00 0 , ATP6V0A2 0.00 0 , ATP6V1B2 0.00 0 , ATP7A 0.00 0 , ATP8A2 0.00 0 , ATRX 0.00 0 , ATXN10 0.00 0 , AVIL 0.00 0 , B3GALNT2 0.00 0 , B3GALT6 0.00 0 , B3GAT3 0.00 0 , B3GLCT 0.00 0 , B4GALT1 0.00 0 , B4GALT7 0.00 0 , B4GAT1 0.00 0 , B9D1 0.00 0 , B9D2 0.00 0 , BANF1 0.00 0 , BBIP1 0.00 0 , BBS1 0.00 0 , BBS10 0.00 0 , BBS12 0.00 0 , BBS2 0.00 0 , BBS4 0.00 0 , BBS5 0.00 0 , BBS7 0.00 0 , BBS9 0.00 0 , BCAP31 0.00 0 , BCL11A 0.00 0 , BCL9L 0.00 0 , BCOR 0.00 0 , BCS1L 0.00 0 , BDNF 0.00 0 , BFSP2 0.00 0 , BGN 0.00 0 , BHLHA9 0.00 0 , BICC1 0.00 0 , BICD2 0.00 0 , BIN1 0.00 0 , BLM 0.00 0 , BLOC1S6 0.00 0 , BMP1 0.00 0 , BMP2 0.00 0 , BMP4 0.00 0 , BMPER 0.00 0 , BMPR1B 0.00 0 , BNC2 0.00 0 , BOLA3 0.00 0 , BPTF 0.00 0 , BRAF 0.00 0 , BRAT1 0.00 0 , BRCA2 0.00 0 , BRIP1 0.00 0 , BRPF1 0.00 0 , BSND 0.00 0 , BTD 0.00 0 , BUB1 0.00 0 , BUB1B 0.00 0 , BUB3 0.00 0 , C12ORF57 0.00 0 , MTRFR 0.00 0 , C1QBP 0.00 0 , MFRP 0.00 0 , C2CD3 0.00 0 , C4BPA 0.00 0 , C4BPB 0.00 0 , CFAP418 0.00 0 , CA2 0.00 0 , CA5A 0.00 0 , CA8 0.00 0 , CACNA1A 0.00 0 , CACNA1C 0.00 0 , CACNA1D 0.00 0 , CACNA1E 0.00 0 , CACNA1G 0.00 0 , CAMK2A 0.00 0 , CAMK2B 0.00 0 , CAMTA1 0.00 0 , CANT1 0.00 0 , CARS2 0.00 0 , CASK 0.00 0 , CASR 0.00 0 , CBL 0.00 0 , CC2D2A 0.00 0 , CCBE1 0.00 0 , CCDC103 0.00 0 , ODAD1 0.00 0 , ODAD3 0.00 0 , CCDC22 0.00 0 , CCDC28B 0.00 0 , CCDC39 0.00 0 , CCDC40 0.00 0 , CCDC78 0.00 0 , CCDC8 0.00 0 , CCDC88C 0.00 0 , CCM2 0.00 0 , CCND2 0.00 0 , CCNQ 0.00 0 , CD151 0.00 0 , CD55 0.00 0 , CD96 0.00 0 , CDAN1 0.00 0 , CDC45 0.00 0 , CDC6 0.00 0 , CDC73 0.00 0 , CDH1 0.00 0 , CDH11 0.00 0 , CDH3 0.00 0 , CDK13 0.00 0 , CDK5RAP2 0.00 0 , CDK8 0.00 0 , CDKL5 0.00 0 , CDKN1C 0.00 0 , CDON 0.00 0 , CDT1 0.00 0 , CELSR1 0.00 0 , CENPF 0.00 0 , CENPJ 0.00 0 , CEP104 0.00 0 , CEP120 0.00 0 , CEP135 0.00 0 , CEP152 0.00 0 , CEP164 0.00 0 , CEP290 0.00 0 , CEP41 0.00 0 , CEP55 0.00 0 , CEP57 0.00 0 , CEP63 0.00 0 , CEP83 0.00 0 , CERS3 0.00 0 , CERT1 0.00 0 , CFAP298 0.00 0 , CFAP300 0.00 0 , CFAP410 0.00 0 , CFAP53 0.00 0 , CFC1 0.00 0 , CFHR2 0.00 0 , CFL2 0.00 0 , CFTR 0.00 0 , CHAMP1 0.00 0 , CHAT 0.00 0 , CHD3 0.00 0 , CHD4 0.00 0 , CHD7 0.00 0 , CHD8 0.00 0 , CHKB 0.00 0 , CHMP1A 0.00 0 , CHN1 0.00 0 , CHRNA1 0.00 0 , CHRNA3 0.00 0 , CHRNB1 0.00 0 , CHRNB2 0.00 0 , CHRND 0.00 0 , CHRNE 0.00 0 , CHRNG 0.00 0 , CHST11 0.00 0 , CHST14 0.00 0 , CHST3 0.00 0 , CHSY1 0.00 0 , CHUK 0.00 0 , CILK1 0.00 0 , CIT 0.00 0 , CKAP2L 0.00 0 , CLCN7 0.00 0 , CLCNKB 0.00 0 , CLDN10 0.00 0 , CLMP 0.00 0 , CLP1 0.00 0 , CLPB 0.00 0 , CLPP 0.00 0 , CLTC 0.00 0 , CNKSR2 0.00 0 , CNOT1 0.00 0 , CNOT3 0.00 0 , CNTN1 0.00 0 , CNTNAP1 0.00 0 , CNTNAP2 0.00 0 , COASY 0.00 0 , COG1 0.00 0 , COG4 0.00 0 , COG5 0.00 0 , COG6 0.00 0 , COG7 0.00 0 , COG8 0.00 0 , COL10A1 0.00 0 , COL11A1 0.00 0 , COL11A2 0.00 0 , COL12A1 0.00 0 , COL13A1 0.00 0 , COL18A1 0.00 0 , COL1A1 0.00 0 , COL1A2 0.00 0 , COL25A1 0.00 0 , COL2A1 0.00 0 , COL3A1 0.00 0 , COL4A1 0.00 0 , COL4A2 0.00 0 , COL5A1 0.00 0 , COL5A2 0.00 0 , COL6A1 0.00 0 , COL6A2 0.00 0 , COL6A3 0.00 0 , COL7A1 0.00 0 , COL9A1 0.00 0 , COL9A2 0.00 0 , COLEC10 0.00 0 , COLEC11 0.00 0 , COLQ 0.00 0 , COMT 0.00 0 , COQ4 0.00 0 , COQ7 0.00 0 , COQ9 0.00 0 , COX7B 0.00 0 , CPAMD8 0.00 0 , CPLANE1 0.00 0 , CPT2 0.00 0 , CRADD 0.00 0 , CRB1 0.00 0 , CRB2 0.00 0 , CREB3L1 0.00 0 , CREBBP 0.00 0 , CRELD1 0.00 0 , CRH 0.00 0 , CRIPT 0.00 0 , CRLF1 0.00 0 , CRPPA 0.00 0 , CRTAP 0.00 0 , CRX 0.00 0 , CRYAA 0.00 0 , CRYBA1 0.00 0 , CRYBA4 0.00 0 , CRYBB1 0.00 0 , CRYBB2 0.00 0 , CRYBB3 0.00 0 , CRYGC 0.00 0 , CRYGD 0.00 0 , CSF1R 0.00 0 , CSNK2A1 0.00 0 , CSPP1 0.00 0 , CSTA 0.00 0 , CTC1 0.00 0 , CTCF 0.00 0 , CTDP1 0.00 0 , CTNNB1 0.00 0 , CTNND1 0.00 0 , CTNS 0.00 0 , CTSA 0.00 0 , CTSD 0.00 0 , CTSK 0.00 0 , CTU2 0.00 0 , CUL4B 0.00 0 , CUL7 0.00 0 , CUX2 0.00 0 , CWC27 0.00 0 , CXCR4 0.00 0 , CYB5R3 0.00 0 , CYP11A1 0.00 0 , CYP11B1 0.00 0 , CYP17A1 0.00 0 , CYP19A1 0.00 0 , CYP1B1 0.00 0 , CYP21A2 0.00 0 , CYP26B1 0.00 0 , CYP2U1 0.00 0 , CYP4F22 0.00 0 , DACH1 0.00 0 , DAG1 0.00 0 , DARS1 0.00 0 , DCC 0.00 0 , DCDC2 0.00 0 , DCHS1 0.00 0 , DCX 0.00 0 , DDHD2 0.00 0 , DDR2 0.00 0 , DDX11 0.00 0 , DDX3X 0.00 0 , DDX59 0.00 0 , DDX6 0.00 0 , DENND5A 0.00 0 , DHCR24 0.00 0 , DHCR7 0.00 0 , DHDDS 0.00 0 , DHFR 0.00 0 , DHH 0.00 0 , DHODH 0.00 0 , DHTKD1 0.00 0 , DHX30 0.00 0 , DIAPH1 0.00 0 , DIS3L2 0.00 0 , DISP1 0.00 0 , DKC1 0.00 0 , DLG4 0.00 0 , DLL3 0.00 0 , DLL4 0.00 0 , DLX5 0.00 0 , DMD 0.00 0 , DMPK 0.00 0 , DNAAF1 0.00 0 , DNAAF2 0.00 0 , DNAAF3 0.00 0 , DNAAF4 0.00 0 , DNAAF5 0.00 0 , DNAH11 0.00 0 , DNAH5 0.00 0 , DNAH9 0.00 0 , DNAI1 0.00 0 , DNAI2 0.00 0 , DNAJB11 0.00 0 , DNAJC12 0.00 0 , DNAJC19 0.00 0 , DNM1 0.00 0 , DNM1L 0.00 0 , DNM2 0.00 0 , DNMT3A 0.00 0 , DNMT3B 0.00 0 , DOCK6 0.00 0 , DOCK7 0.00 0 , DOK7 0.00 0 , DOLK 0.00 0 , DONSON 0.00 0 , DPAGT1 0.00 0 , DPF2 0.00 0 , DPH1 0.00 0 , DPM1 0.00 0 , DPM2 0.00 0 , DPM3 0.00 0 , DPYD 0.00 0 , DRC1 0.00 0 , DSG1 0.00 0 , DSP 0.00 0 , DSTYK 0.00 0 , DUSP6 0.00 0 , DVL1 0.00 0 , DVL3 0.00 0 , DYM 0.00 0 , DYNC1H1 0.00 0 , DYNC2H1 0.00 0 , DYNC2LI1 0.00 0 , DYRK1A 0.00 0 , DZIP1L 0.00 0 , EARS2 0.00 0 , EBF3 0.00 0 , GLB1 0.00 0 , ECEL1 0.00 0 , EDA 0.00 0 , EDN1 0.00 0 , EDNRA 0.00 0 , EDNRB 0.00 0 , EED 0.00 0 , EEF1A2 0.00 0 , EFL1 0.00 0 , EFNB1 0.00 0 , EFTUD2 0.00 0 , EGR2 0.00 0 , EHBP1L1 0.00 0 , EHHADH 0.00 0 , EHMT1 0.00 0 , EIF2AK3 0.00 0 , EIF2B2 0.00 0 , EIF2B3 0.00 0 , EIF2S3 0.00 0 , EIF4A3 0.00 0 , EIF5A 0.00 0 , ELAC2 0.00 0 , ELMO2 0.00 0 , ELN 0.00 0 , ELOVL4 0.00 0 , EMC1 0.00 0 , EMD 0.00 0 , EMG1 0.00 0 , EML1 0.00 0 , EMX2 0.00 0 , ENPP1 0.00 0 , EOGT 0.00 0 , EP300 0.00 0 , EPG5 0.00 0 , EPHB4 0.00 0 , EPHX1 0.00 0 , ERBB3 0.00 0 , ERCC1 0.00 0 , ERCC2 0.00 0 , ERCC3 0.00 0 , ERCC4 0.00 0 , ERCC5 0.00 0 , ERCC6 0.00 0 , ERCC8 0.00 0 , ERF 0.00 0 , ERGIC1 0.00 0 , ERLIN2 0.00 0 , ESCO2 0.00 0 , ESRRG 0.00 0 , ETFA 0.00 0 , ETFB 0.00 0 , ETFDH 0.00 0 , EVC 0.00 0 , EVC2 0.00 0 , EXOC3L2 0.00 0 , EXOSC3 0.00 0 , EXPH5 0.00 0 , EXT1 0.00 0 , EXT2 0.00 0 , EXTL3 0.00 0 , EYA1 0.00 0 , EZH2 0.00 0 , FA2H 0.00 0 , FANCA 0.00 0 , FAM111A 0.00 0 , HYCC1 0.00 0 , FAM20A 0.00 0 , FAM20C 0.00 0 , FANCB 0.00 0 , FANCC 0.00 0 , FANCD2 0.00 0 , FANCE 0.00 0 , FANCF 0.00 0 , FANCG 0.00 0 , FANCI 0.00 0 , FANCL 0.00 0 , FANCM 0.00 0 , FAR1 0.00 0 , FAT4 0.00 0 , FBLN5 0.00 0 , FBN1 0.00 0 , FBN2 0.00 0 , FBXL4 0.00 0 , FEZF1 0.00 0 , FGD1 0.00 0 , FGF10 0.00 0 , FGF17 0.00 0 , FGF3 0.00 0 , FGF8 0.00 0 , FGF9 0.00 0 , FGFR1 0.00 0 , FGFR2 0.00 0 , FGFR3 0.00 0 , FGG 0.00 0 , FH 0.00 0 , FIG4 0.00 0 , FKBP10 0.00 0 , FKBP14 0.00 0 , FKBP8 0.00 0 , FKRP 0.00 0 , FKTN 0.00 0 , FLNA 0.00 0 , FLNB 0.00 0 , FLNC 0.00 0 , FLRT3 0.00 0 , FLT4 0.00 0 , FLVCR2 0.00 0 , FMN2 0.00 0 , FN1 0.00 0 , FOLR1 0.00 0 , FOXC1 0.00 0 , FOXC2 0.00 0 , FOXE1 0.00 0 , FOXE3 0.00 0 , FOXF1 0.00 0 , FOXG1 0.00 0 , FOXL2 0.00 0 , FOXP2 0.00 0 , FOXP3 0.00 0 , FOXP4 0.00 0 , FOXRED1 0.00 0 , FRAS1 0.00 0 , FREM1 0.00 0 , FREM2 0.00 0 , FRMD4A 0.00 0 , FRMPD4 0.00 0 , FRRS1L 0.00 0 , FTL 0.00 0 , FTO 0.00 0 , FUCA1 0.00 0 , FUT8 0.00 0 , FUZ 0.00 0 , FYCO1 0.00 0 , FZD2 0.00 0 , FZD5 0.00 0 , G6PC3 0.00 0 , GAA 0.00 0 , GABRA1 0.00 0 , GABRB2 0.00 0 , GABRG2 0.00 0 , GALC 0.00 0 , GALE 0.00 0 , GALK1 0.00 0 , GALNS 0.00 0 , GALNT2 0.00 0 , GANAB 0.00 0 , GATA1 0.00 0 , GATA2 0.00 0 , GATA3 0.00 0 , GATA4 0.00 0 , GATA6 0.00 0 , GBA1 0.00 0 , GBA2 0.00 0 , GBE1 0.00 0 , GCDH 0.00 0 , GCSH 0.00 0 , GDF1 0.00 0 , GDF3 0.00 0 , GDF5 0.00 0 , GDF6 0.00 0 , GFAP 0.00 0 , GFM1 0.00 0 , GFPT1 0.00 0 , GFRA1 0.00 0 , GJA1 0.00 0 , GJA3 0.00 0 , GJA8 0.00 0 , GJB2 0.00 0 , GJC2 0.00 0 , GLA 0.00 0 , GLDC 0.00 0 , GLDN 0.00 0 , GLE1 0.00 0 , GLI1 0.00 0 , GLI2 0.00 0 , GLI3 0.00 0 , GLIS2 0.00 0 , GLIS3 0.00 0 , GLUL 0.00 0 , GM2A 0.00 0 , GMNN 0.00 0 , GMPPB 0.00 0 , GNA11 0.00 0 , GNA14 0.00 0 , GNAI1 0.00 0 , GNAI3 0.00 0 , GNAO1 0.00 0 , GNAQ 0.00 0 , GNAS 0.00 0 , GNB1 0.00 0 , GNB5 0.00 0 , GNPAT 0.00 0 , GNPTAB 0.00 0 , GNPTG 0.00 0 , GNS 0.00 0 , GORAB 0.00 0 , GP1BB 0.00 0 , GPAA1 0.00 0 , GPC3 0.00 0 , GPC6 0.00 0 , GPI 0.00 0 , GPKOW 0.00 0 , GPSM2 0.00 0 , GPX4 0.00 0 , GREB1L 0.00 0 , GRHL2 0.00 0 , GRHL3 0.00 0 , GRIN1 0.00 0 , GRIN2B 0.00 0 , GRIN2D 0.00 0 , GRIP1 0.00 0 , GRM1 0.00 0 , GSC 0.00 0 , GSPT2 0.00 0 , GTF2E2 0.00 0 , GTF2H5 0.00 0 , GTPBP3 0.00 0 , GUCY2C 0.00 0 , GUCY2D 0.00 0 , GUSB 0.00 0 , GZF1 0.00 0 , H1-4 0.00 0 , H4C3 0.00 0 , HAAO 0.00 0 , HADHA 0.00 0 , HADHB 0.00 0 , HBA1 0.00 0 , HBA2 0.00 0 , HCCS 0.00 0 , HCFC1 0.00 0 , HDAC8 0.00 0 , HES7 0.00 0 , HESX1 0.00 0 , HGSNAT 0.00 0 , HIBCH 0.00 0 , HIRA 0.00 0 , HIVEP2 0.00 0 , HLX 0.00 0 , HMGA2 0.00 0 , HMX1 0.00 0 , HNF1B 0.00 0 , HNF4A 0.00 0 , HNRNPH2 0.00 0 , HNRNPK 0.00 0 , HOXA1 0.00 0 , HOXA11 0.00 0 , HOXA13 0.00 0 , HOXA2 0.00 0 , HOXB1 0.00 0 , HOXD13 0.00 0 , HPD 0.00 0 , HPGD 0.00 0 , HPSE2 0.00 0 , HR 0.00 0 , HRAS 0.00 0 , HS6ST1 0.00 0 , HSD17B3 0.00 0 , HSD17B4 0.00 0 , HSF4 0.00 0 , HSPD1 0.00 0 , HSPG2 0.00 0 , HUWE1 0.00 0 , HYAL1 0.00 0 , HYLS1 0.00 0 , IARS1 0.00 0 , IBA57 0.00 0 , IDH1 0.00 0 , IDS 0.00 0 , IDUA 0.00 0 , IER3IP1 0.00 0 , IFIH1 0.00 0 , IFITM5 0.00 0 , IFT122 0.00 0 , IFT140 0.00 0 , IFT172 0.00 0 , IFT27 0.00 0 , IFT43 0.00 0 , IFT52 0.00 0 , IFT80 0.00 0 , IFT81 0.00 0 , IFT88 0.00 0 , IGBP1 0.00 0 , IGF1 0.00 0 , IGF1R 0.00 0 , IGF2 0.00 0 , IGFBP7 0.00 0 , IGHMBP2 0.00 0 , IHH 0.00 0 , IKBKG 0.00 0 , IL11RA 0.00 0 , IL17RD 0.00 0 , IL1RAPL1 0.00 0 , BPNT2 0.00 0 , IMPDH1 0.00 0 , INCENP 0.00 0 , INPP5B 0.00 0 , INPP5E 0.00 0 , INPP5K 0.00 0 , INPPL1 0.00 0 , INSR 0.00 0 , INTU 0.00 0 , INVS 0.00 0 , IQCB1 0.00 0 , IRF6 0.00 0 , IRX1 0.00 0 , IRX5 0.00 0 , ITCH 0.00 0 , ITGA3 0.00 0 , ITGA6 0.00 0 , ITGA8 0.00 0 , ITGB4 0.00 0 , ITPR1 0.00 0 , JAG1 0.00 0 , JAM3 0.00 0 , JUP 0.00 0 , KANSL1 0.00 0 , KAT6A 0.00 0 , KAT6B 0.00 0 , KATNB1 0.00 0 , KCNA1 0.00 0 , KCNC3 0.00 0 , KCNH1 0.00 0 , KCNJ1 0.00 0 , KCNJ13 0.00 0 , KCNJ2 0.00 0 , KCNJ6 0.00 0 , KCNJ8 0.00 0 , KCNK9 0.00 0 , KCNQ2 0.00 0 , KCNQ5 0.00 0 , KCNT1 0.00 0 , KCTD1 0.00 0 , KCTD7 0.00 0 , KDM1A 0.00 0 , KDM5C 0.00 0 , KDM6A 0.00 0 , KATNIP 0.00 0 , KIAA0586 0.00 0 , KIAA0753 0.00 0 , BLTP1 0.00 0 , KIDINS220 0.00 0 , KIF11 0.00 0 , KIF14 0.00 0 , KIF1A 0.00 0 , KIF22 0.00 0 , KIF26B 0.00 0 , KIF2A 0.00 0 , KIF5C 0.00 0 , KIF7 0.00 0 , KIFBP 0.00 0 , KISS1R 0.00 0 , KLF1 0.00 0 , KLHL40 0.00 0 , KLHL41 0.00 0 , KLHL7 0.00 0 , KMT2A 0.00 0 , KMT2B 0.00 0 , KMT2C 0.00 0 , KMT2D 0.00 0 , KNL1 0.00 0 , KPTN 0.00 0 , KRAS 0.00 0 , KRIT1 0.00 0 , KRT74 0.00 0 , KYNU 0.00 0 , L1CAM 0.00 0 , L2HGDH 0.00 0 , LAGE3 0.00 0 , LAMA1 0.00 0 , LAMA2 0.00 0 , LAMA5 0.00 0 , LAMB1 0.00 0 , LAMC3 0.00 0 , LARGE1 0.00 0 , LARP7 0.00 0 , LARS2 0.00 0 , LBR 0.00 0 , LCA5 0.00 0 , LEMD3 0.00 0 , LFNG 0.00 0 , LGI4 0.00 0 , LHB 0.00 0 , LHX3 0.00 0 , LHX4 0.00 0 , LIAS 0.00 0 , LIFR 0.00 0 , LIG4 0.00 0 , LINS1 0.00 0 , LIPA 0.00 0 , LIPN 0.00 0 , LIPT1 0.00 0 , LIPT2 0.00 0 , LMBR1 0.00 0 , LMBRD1 0.00 0 , LMNA 0.00 0 , LMNB1 0.00 0 , LMNB2 0.00 0 , LMOD3 0.00 0 , LMX1B 0.00 0 , LONP1 0.00 0 , LRAT 0.00 0 , LRBA 0.00 0 , LRIG2 0.00 0 , LRIT3 0.00 0 , LRP2 0.00 0 , CORIN 0.00 0 , LRP5 0.00 0 , LRRC56 0.00 0 , DNAAF11 0.00 0 , LTBP3 0.00 0 , LTBP4 0.00 0 , LYST 0.00 0 , LZTFL1 0.00 0 , LZTR1 0.00 0 , MAB21L2 0.00 0 , MACF1 0.00 0 , MAF 0.00 0 , MAFB 0.00 0 , MAGEL2 0.00 0 , MAMLD1 0.00 0 , MAN1B1 0.00 0 , MANBA 0.00 0 , MAP2K1 0.00 0 , MAP2K2 0.00 0 , MAP3K1 0.00 0 , MAP3K20 0.00 0 , MAP3K7 0.00 0 , MAPKBP1 0.00 0 , MAPRE2 0.00 0 , MASP1 0.00 0 , MAT1A 0.00 0 , MATN3 0.00 0 , MBOAT7 0.00 0 , MBTPS2 0.00 0 , MCOLN1 0.00 0 , MCPH1 0.00 0 , MDH2 0.00 0 , MECOM 0.00 0 , MECP2 0.00 0 , MECR 0.00 0 , MED12 0.00 0 , MED13L 0.00 0 , MED17 0.00 0 , MED28 0.00 0 , MEF2C 0.00 0 , MEGF10 0.00 0 , MEGF8 0.00 0 , MEIS2 0.00 0 , MEOX1 0.00 0 , MESD 0.00 0 , MESP2 0.00 0 , MFSD2A 0.00 0 , MGP 0.00 0 , MID1 0.00 0 , MIPOL1 0.00 0 , MITF 0.00 0 , MKKS 0.00 0 , MKS1 0.00 0 , MLC1 0.00 0 , MLH1 0.00 0 , MLYCD 0.00 0 , MMACHC 0.00 0 , MMADHC 0.00 0 , MMP13 0.00 0 , MMP15 0.00 0 , MMP21 0.00 0 , MN1 0.00 0 , MNX1 0.00 0 , MOCOS 0.00 0 , MOCS1 0.00 0 , MOCS2 0.00 0 , MOGS 0.00 0 , MPDU1 0.00 0 , MPDZ 0.00 0 , MPL 0.00 0 , MPLKIP 0.00 0 , MPZ 0.00 0 , MRAS 0.00 0 , MRPS16 0.00 0 , MRPS22 0.00 0 , MRPS34 0.00 0 , MSH2 0.00 0 , MSH6 0.00 0 , MSL3 0.00 0 , MSMO1 0.00 0 , MSTO1 0.00 0 , MSX1 0.00 0 , MSX2 0.00 0 , MTM1 0.00 0 , MTO1 0.00 0 , MTOR 0.00 0 , MUSK 0.00 0 , MVK 0.00 0 , MYBPC1 0.00 0 , MYCN 0.00 0 , MYH10 0.00 0 , MYH11 0.00 0 , MYH2 0.00 0 , MYH3 0.00 0 , MYH6 0.00 0 , MYH7 0.00 0 , MYH8 0.00 0 , MYH9 0.00 0 , MYL1 0.00 0 , MYL9 0.00 0 , MYLK 0.00 0 , MYMK 0.00 0 , MYO18B 0.00 0 , MYO9A 0.00 0 , MYOCD 0.00 0 , MYOD1 0.00 0 , MYPN 0.00 0 , MYRF 0.00 0 , MYT1 0.00 0 , NAA10 0.00 0 , NAA15 0.00 0 , NACC1 0.00 0 , NADSYN1 0.00 0 , NAGA 0.00 0 , NAGLU 0.00 0 , NALCN 0.00 0 , NANS 0.00 0 , NAXE 0.00 0 , NBAS 0.00 0 , NBN 0.00 0 , NDE1 0.00 0 , NDP 0.00 0 , NDUFA10 0.00 0 , NDUFAF2 0.00 0 , NDUFAF5 0.00 0 , NDUFB11 0.00 0 , NEB 0.00 0 , NECTIN1 0.00 0 , NECTIN4 0.00 0 , NEDD4L 0.00 0 , NEK1 0.00 0 , NEK9 0.00 0 , NEU1 0.00 0 , NEXMIF 0.00 0 , NF1 0.00 0 , NFIX 0.00 0 , NHEJ1 0.00 0 , NHP2 0.00 0 , NHS 0.00 0 , NIN 0.00 0 , NIPAL4 0.00 0 , NIPBL 0.00 0 , NKX2-5 0.00 0 , NKX3-2 0.00 0 , NKX6-2 0.00 0 , NLRC4 0.00 0 , RMRP 0.00 0 , NMNAT1 0.00 0 , NMNAT2 0.00 0 , NODAL 0.00 0 , NOG 0.00 0 , NONO 0.00 0 , NOTCH1 0.00 0 , NOTCH2 0.00 0 , NOVA2 0.00 0 , NPC1 0.00 0 , NPC2 0.00 0 , NPHP1 0.00 0 , NPHP3 0.00 0 , NPHP4 0.00 0 , NPHS1 0.00 0 , NPRL2 0.00 0 , NR0B1 0.00 0 , NR2F2 0.00 0 , NR5A1 0.00 0 , NRAS 0.00 0 , NRXN2 0.00 0 , NSD1 0.00 0 , NSDHL 0.00 0 , NSMF 0.00 0 , NSUN2 0.00 0 , NT5C2 0.00 0 , NTRK2 0.00 0 , NUAK2 0.00 0 , NUBPL 0.00 0 , NUP107 0.00 0 , NUP62 0.00 0 , NUP88 0.00 0 , NUS1 0.00 0 , NXN 0.00 0 , OBSL1 0.00 0 , OCLN 0.00 0 , OCRL 0.00 0 , ODC1 0.00 0 , OFD1 0.00 0 , OPHN1 0.00 0 , SLC25A15 0.00 0 , ORC4 0.00 0 , ORC6 0.00 0 , OSGEP 0.00 0 , OSTM1 0.00 0 , OTUD5 0.00 0 , OTUD6B 0.00 0 , OTX2 0.00 0 , P3H1 0.00 0 , P4HB 0.00 0 , PACS1 0.00 0 , PAFAH1B1 0.00 0 , PAICS 0.00 0 , PAK3 0.00 0 , PALB2 0.00 0 , PAPSS2 0.00 0 , PARN 0.00 0 , PAX2 0.00 0 , PAX3 0.00 0 , PAX6 0.00 0 , PAX7 0.00 0 , PAX8 0.00 0 , PBX1 0.00 0 , PCGF2 0.00 0 , PCNT 0.00 0 , PCYT1A 0.00 0 , PDCD10 0.00 0 , PDE10A 0.00 0 , PDE4D 0.00 0 , PDE6D 0.00 0 , PDE6H 0.00 0 , PDGFB 0.00 0 , PDGFRB 0.00 0 , PDHA1 0.00 0 , PDHB 0.00 0 , PDHX 0.00 0 , PDSS1 0.00 0 , PDYN 0.00 0 , PEPD 0.00 0 , PET100 0.00 0 , PEX1 0.00 0 , PEX10 0.00 0 , PEX11B 0.00 0 , PEX12 0.00 0 , PEX13 0.00 0 , PEX14 0.00 0 , PEX16 0.00 0 , PEX19 0.00 0 , PEX2 0.00 0 , PEX26 0.00 0 , PEX3 0.00 0 , PEX5 0.00 0 , PEX6 0.00 0 , PEX7 0.00 0 , PFKM 0.00 0 , PGAP1 0.00 0 , PGAP2 0.00 0 , PGAP3 0.00 0 , PGM1 0.00 0 , PGM3 0.00 0 , PHF21A 0.00 0 , PHF6 0.00 0 , PHF8 0.00 0 , PHGDH 0.00 0 , PHIP 0.00 0 , PHOX2B 0.00 0 , PIBF1 0.00 0 , PIEZO1 0.00 0 , PIEZO2 0.00 0 , PIGA 0.00 0 , PIGG 0.00 0 , PIGL 0.00 0 , PIGN 0.00 0 , PIGO 0.00 0 , PIGS 0.00 0 , PIGT 0.00 0 , PIGV 0.00 0 , PIGY 0.00 0 , DNAAF6 0.00 0 , PIK3C2A 0.00 0 , PIK3CA 0.00 0 , PIK3R1 0.00 0 , PIK3R2 0.00 0 , PIP5K1C 0.00 0 , PITX1 0.00 0 , PITX2 0.00 0 , PITX3 0.00 0 , PKD1 0.00 0 , PKD1L1 0.00 0 , PKD2 0.00 0 , PKHD1 0.00 0 , PKLR 0.00 0 , PLAA 0.00 0 , PLAG1 0.00 0 , PLCB1 0.00 0 , PLCB4 0.00 0 , PRKCSH 0.00 0 , PLEC 0.00 0 , PLG 0.00 0 , PLK4 0.00 0 , PLOD1 0.00 0 , PLOD2 0.00 0 , PLOD3 0.00 0 , PLP1 0.00 0 , PLPBP 0.00 0 , PMM2 0.00 0 , PMP22 0.00 0 , PMS2 0.00 0 , PNKP 0.00 0 , PNPLA1 0.00 0 , POC1A 0.00 0 , POGZ 0.00 0 , POLE 0.00 0 , POLG2 0.00 0 , POLR1A 0.00 0 , POLR1B 0.00 0 , POLR1C 0.00 0 , POLR1D 0.00 0 , POLR3A 0.00 0 , POLR3B 0.00 0 , POMGNT1 0.00 0 , POMGNT2 0.00 0 , POMK 0.00 0 , POMT1 0.00 0 , POMT2 0.00 0 , BVES 0.00 0 , PORCN 0.00 0 , POU1F1 0.00 0 , PPIB 0.00 0 , PPP1CB 0.00 0 , PPP2R1A 0.00 0 , PPP2R5D 0.00 0 , PPP3CA 0.00 0 , PQBP1 0.00 0 , PRDM5 0.00 0 , PREPL 0.00 0 , PRG4 0.00 0 , PRIM1 0.00 0 , PRKAG2 0.00 0 , PRKAR1A 0.00 0 , PRKD1 0.00 0 , PRMT7 0.00 0 , PROK2 0.00 0 , PROKR2 0.00 0 , PROP1 0.00 0 , PRR12 0.00 0 , PRRX1 0.00 0 , PRSS56 0.00 0 , PRUNE1 0.00 0 , PRX 0.00 0 , PSAP 0.00 0 , PSAT1 0.00 0 , PSPH 0.00 0 , PTCH1 0.00 0 , PTCH2 0.00 0 , PTDSS1 0.00 0 , PTEN 0.00 0 , PTF1A 0.00 0 , PTH 0.00 0 , PTH1R 0.00 0 , PTHLH 0.00 0 , PTPN11 0.00 0 , PTPN14 0.00 0 , PTS 0.00 0 , PUF60 0.00 0 , PXDN 0.00 0 , PYCR1 0.00 0 , PYCR2 0.00 0 , PYGM 0.00 0 , PYROXD1 0.00 0 , QARS1 0.00 0 , QRICH1 0.00 0 , RAB11A 0.00 0 , RAB11B 0.00 0 , RAB18 0.00 0 , RAB23 0.00 0 , RAB33B 0.00 0 , RAB3GAP1 0.00 0 , RAB3GAP2 0.00 0 , RAB40AL 0.00 0 , RAC1 0.00 0 , NCOA3 0.00 0 , RAD21 0.00 0 , RAD51 0.00 0 , RAD51C 0.00 0 , RAF1 0.00 0 , RAI1 0.00 0 , RAPSN 0.00 0 , RARB 0.00 0 , RARS2 0.00 0 , RASA1 0.00 0 , PRKRA 0.00 0 , RB1 0.00 0 , RBBP8 0.00 0 , RBM10 0.00 0 , RBM8A 0.00 0 , RBPJ 0.00 0 , RCOR1 0.00 0 , RD3 0.00 0 , RDH12 0.00 0 , RECQL4 0.00 0 , RELN 0.00 0 , REN 0.00 0 , RERE 0.00 0 , RET 0.00 0 , RFT1 0.00 0 , RFX6 0.00 0 , RIN2 0.00 0 , RIPK4 0.00 0 , RIT1 0.00 0 , RLIM 0.00 0 , RMND1 0.00 0 , RNASEH2A 0.00 0 , RNASEH2B 0.00 0 , RNASEH2C 0.00 0 , RNASET2 0.00 0 , ROBO1 0.00 0 , ROBO3 0.00 0 , ROGDI 0.00 0 , ROR2 0.00 0 , RORA 0.00 0 , RPE65 0.00 0 , RPGRIP1 0.00 0 , RPGRIP1L 0.00 0 , RPL15 0.00 0 , RPL11 0.00 0 , RPL26 0.00 0 , RPL35A 0.00 0 , RPL5 0.00 0 , RPS10 0.00 0 , RPS17 0.00 0 , RPS19 0.00 0 , RPS23 0.00 0 , RPS24 0.00 0 , RPS26 0.00 0 , RPS6KA3 0.00 0 , RPS7 0.00 0 , RRAS 0.00 0 , RRAS2 0.00 0 , RRM2B 0.00 0 , RSPH4A 0.00 0 , RSPH9 0.00 0 , RSPRY1 0.00 0 , RTEL1 0.00 0 , RTTN 0.00 0 , RUNX2 0.00 0 , RXYLT1 0.00 0 , RYR1 0.00 0 , SACS 0.00 0 , SALL1 0.00 0 , SALL4 0.00 0 , SAMD9 0.00 0 , SAMHD1 0.00 0 , SASS6 0.00 0 , SATB2 0.00 0 , SBDS 0.00 0 , SC5D 0.00 0 , SCARF2 0.00 0 , SCLT1 0.00 0 , SCN1A 0.00 0 , SCN2A 0.00 0 , SCN3A 0.00 0 , SCN4A 0.00 0 , SCO2 0.00 0 , SCUBE3 0.00 0 , SCYL1 0.00 0 , SDCCAG8 0.00 0 , SDR9C7 0.00 0 , SEC23A 0.00 0 , SEC23B 0.00 0 , SEC24D 0.00 0 , SEC61B 0.00 0 , SECISBP2 0.00 0 , SELENON 0.00 0 , SEMA3A 0.00 0 , SEMA3E 0.00 0 , SEPSECS 0.00 0 , SEPTIN9 0.00 0 , SERPINF1 0.00 0 , SERPINH1 0.00 0 , SET 0.00 0 , SETBP1 0.00 0 , SETD1A 0.00 0 , SETD1B 0.00 0 , SETD2 0.00 0 , SETD5 0.00 0 , SF3B4 0.00 0 , SGCG 0.00 0 , SGPL1 0.00 0 , SGSH 0.00 0 , SH3PXD2B 0.00 0 , SHANK1 0.00 0 , SHANK2 0.00 0 , SHANK3 0.00 0 , SHH 0.00 0 , SHOC2 0.00 0 , SHOX 0.00 0 , SHROOM3 0.00 0 , SIK3 0.00 0 , SIL1 0.00 0 , SIN3A 0.00 0 , SIX1 0.00 0 , SIX3 0.00 0 , SIX5 0.00 0 , SIX6 0.00 0 , HHAT 0.00 0 , SLC10A7 0.00 0 , SLC12A1 0.00 0 , SLC12A6 0.00 0 , SLC13A5 0.00 0 , SLC16A2 0.00 0 , SLC17A5 0.00 0 , SLC18A3 0.00 0 , SLC1A2 0.00 0 , SLC20A1 0.00 0 , SLC20A2 0.00 0 , SLC24A4 0.00 0 , SLC25A19 0.00 0 , SLC25A20 0.00 0 , SLC25A22 0.00 0 , SLC25A24 0.00 0 , SLC25A38 0.00 0 , SLC25A4 0.00 0 , SLC26A2 0.00 0 , SLC26A3 0.00 0 , SLC27A4 0.00 0 , SLC29A3 0.00 0 , SLC2A10 0.00 0 , SLC33A1 0.00 0 , SLC35A1 0.00 0 , SLC35A2 0.00 0 , SLC35A3 0.00 0 , SLC35C1 0.00 0 , SLC35D1 0.00 0 , SLC39A8 0.00 0 , SLC45A1 0.00 0 , SLC5A7 0.00 0 , SLC6A17 0.00 0 , SLC6A8 0.00 0 , SLC6A9 0.00 0 , SLC7A9 0.00 0 , SLC9A6 0.00 0 , SLIT2 0.00 0 , SLX4 0.00 0 , SMAD3 0.00 0 , SMAD4 0.00 0 , SMARCA2 0.00 0 , SMARCA4 0.00 0 , SMARCB1 0.00 0 , SMARCC1 0.00 0 , SMARCE1 0.00 0 , SMC1A 0.00 0 , SMC3 0.00 0 , SMCHD1 0.00 0 , SMG9 0.00 0 , SMN1 0.00 0 , SMO 0.00 0 , SMOC1 0.00 0 , SMOC2 0.00 0 , SMPD1 0.00 0 , SMPD4 0.00 0 , SNAP25 0.00 0 , SNAP29 0.00 0 , SNIP1 0.00 0 , SNRPB 0.00 0 , SNRPE 0.00 0 , SNX10 0.00 0 , SNX14 0.00 0 , SON 0.00 0 , SOS1 0.00 0 , SOS2 0.00 0 , SOST 0.00 0 , SOX10 0.00 0 , SOX11 0.00 0 , SOX17 0.00 0 , SOX18 0.00 0 , SOX2 0.00 0 , SOX3 0.00 0 , SOX5 0.00 0 , SOX6 0.00 0 , SOX9 0.00 0 , SP7 0.00 0 , SPAG1 0.00 0 , SPARC 0.00 0 , AFG2A 0.00 0 , SPATA7 0.00 0 , SPECC1L 0.00 0 , SPEG 0.00 0 , SPG11 0.00 0 , SPRED1 0.00 0 , SPRY4 0.00 0 , SPTAN1 0.00 0 , SRCAP 0.00 0 , SRD5A2 0.00 0 , SRD5A3 0.00 0 , SRGAP1 0.00 0 , SRP54 0.00 0 , SRY 0.00 0 , ST14 0.00 0 , ST3GAL3 0.00 0 , ST3GAL5 0.00 0 , STAC3 0.00 0 , STAG2 0.00 0 , STAMBP 0.00 0 , STAT3 0.00 0 , STAT5B 0.00 0 , STIL 0.00 0 , STRA6 0.00 0 , STRADA 0.00 0 , STS 0.00 0 , STX1B 0.00 0 , STXBP1 0.00 0 , SUCLG1 0.00 0 , SUFU 0.00 0 , SULT2B1 0.00 0 , SUMF1 0.00 0 , SUMO1 0.00 0 , SUZ12 0.00 0 , SYN1 0.00 0 , SYNE1 0.00 0 , SYNM 0.00 0 , SZT2 0.00 0 , TAB2 0.00 0 , TAC3 0.00 0 , TACO1 0.00 0 , TACR3 0.00 0 , TAF1 0.00 0 , TAF13 0.00 0 , TAF2 0.00 0 , TALDO1 0.00 0 , TAPT1 0.00 0 , WWTR1 0.00 0 , TBC1D1 0.00 0 , TBC1D20 0.00 0 , TBC1D23 0.00 0 , TBC1D24 0.00 0 , TBC1D32 0.00 0 , TBCD 0.00 0 , TBCE 0.00 0 , TBCK 0.00 0 , TBL1XR1 0.00 0 , TBR1 0.00 0 , TBX1 0.00 0 , TBX15 0.00 0 , TBX18 0.00 0 , TBX20 0.00 0 , TBX22 0.00 0 , TBX3 0.00 0 , TBX4 0.00 0 , TBX5 0.00 0 , TBX6 0.00 0 , TBXT 0.00 0 , TCF12 0.00 0 , TCF20 0.00 0 , TCF4 0.00 0 , TCIRG1 0.00 0 , TCOF1 0.00 0 , DYNLT2B 0.00 0 , TCTN1 0.00 0 , TCTN2 0.00 0 , TCTN3 0.00 0 , TECPR2 0.00 0 , TELO2 0.00 0 , TENM3 0.00 0 , TENT5A 0.00 0 , TFAP2A 0.00 0 , TFAP2B 0.00 0 , TGDS 0.00 0 , TGFB2 0.00 0 , TGFB3 0.00 0 , TGFBR1 0.00 0 , TGFBR2 0.00 0 , TGIF1 0.00 0 , TGM1 0.00 0 , THOC2 0.00 0 , THOC6 0.00 0 , THRA 0.00 0 , THSD1 0.00 0 , TINF2 0.00 0 , TLL1 0.00 0 , TMCO1 0.00 0 , TMEM107 0.00 0 , TMEM138 0.00 0 , TMEM165 0.00 0 , TMEM216 0.00 0 , TMEM231 0.00 0 , TMEM237 0.00 0 , TMEM260 0.00 0 , TMEM38B 0.00 0 , TMEM67 0.00 0 , TMEM70 0.00 0 , TMEM94 0.00 0 , TMEM98 0.00 0 , TMTC3 0.00 0 , TMX2 0.00 0 , TNC 0.00 0 , TNFRSF13B 0.00 0 , TNNI2 0.00 0 , TNNT1 0.00 0 , TNNT3 0.00 0 , TNXB 0.00 0 , TOE1 0.00 0 , TOP3A 0.00 0 , TOR1A 0.00 0 , TP53RK 0.00 0 , TP63 0.00 0 , TPM2 0.00 0 , TPM3 0.00 0 , TRAF3IP1 0.00 0 , TRAF7 0.00 0 , TRAIP 0.00 0 , TRAP1 0.00 0 , TRAPPC11 0.00 0 , TRAPPC12 0.00 0 , TRAPPC9 0.00 0 , TREM2 0.00 0 , TREX1 0.00 0 , TRIM32 0.00 0 , TRIM37 0.00 0 , TRIO 0.00 0 , TRIP11 0.00 0 , TRIP12 0.00 0 , TRIP13 0.00 0 , TRIP4 0.00 0 , TRMT10A 0.00 0 , TRMT10C 0.00 0 , TRPM7 0.00 0 , TRPS1 0.00 0 , TRPV3 0.00 0 , TRPV4 0.00 0 , TRPV6 0.00 0 , TSC1 0.00 0 , TSC2 0.00 0 , TSEN15 0.00 0 , TSEN2 0.00 0 , TSEN34 0.00 0 , TSEN54 0.00 0 , TSFM 0.00 0 , TSPYL1 0.00 0 , TTC21B 0.00 0 , ODAD4 0.00 0 , SKIC3 0.00 0 , TTC7A 0.00 0 , TTC8 0.00 0 , TTC9 0.00 0 , TTI2 0.00 0 , TTN 0.00 0 , TUBA1A 0.00 0 , TUBA8 0.00 0 , TUBB 0.00 0 , TUBB2A 0.00 0 , TUBB2B 0.00 0 , TUBB3 0.00 0 , TUBB4A 0.00 0 , TUBG1 0.00 0 , TUBGCP4 0.00 0 , TUBGCP6 0.00 0 , TUFM 0.00 0 , TULP1 0.00 0 , TWIST1 0.00 0 , TWIST2 0.00 0 , TXNDC15 0.00 0 , TXNL4A 0.00 0 , TYR 0.00 0 , TYROBP 0.00 0 , UBA1 0.00 0 , UBB 0.00 0 , UBE2T 0.00 0 , UBE3A 0.00 0 , UBE3B 0.00 0 , UBR1 0.00 0 , UBTF 0.00 0 , UFD1 0.00 0 , UMOD 0.00 0 , UMPS 0.00 0 , UNC50 0.00 0 , UPF3B 0.00 0 , UPK3A 0.00 0 , UQCRB 0.00 0 , UQCRQ 0.00 0 , UROS 0.00 0 , USP18 0.00 0 , USP27X 0.00 0 , USP9X 0.00 0 , UTRN 0.00 0 , VAMP1 0.00 0 , VANGL1 0.00 0 , VANGL2 0.00 0 , VAX1 0.00 0 , VDR 0.00 0 , VEGFC 0.00 0 , VIPAS39 0.00 0 , VLDLR 0.00 0 , VMA21 0.00 0 , VPS13B 0.00 0 , VPS33B 0.00 0 , VPS53 0.00 0 , VRK1 0.00 0 , VSX2 0.00 0 , VTI1A 0.00 0 , VWA2 0.00 0 , WASHC5 0.00 0 , WBP11 0.00 0 , WDPCP 0.00 0 , WDR11 0.00 0 , WDR19 0.00 0 , WDR26 0.00 0 , DYNC2I2 0.00 0 , WDR35 0.00 0 , WDR4 0.00 0 , DYNC2I1 0.00 0 , WDR62 0.00 0 , WDR73 0.00 0 , WDR81 0.00 0 , WNT1 0.00 0 , WNT10B 0.00 0 , WNT3 0.00 0 , WNT4 0.00 0 , WNT5A 0.00 0 , WNT7A 0.00 0 , WRAP53 0.00 0 , WT1 0.00 0 , WWOX 0.00 0 , XRCC4 0.00 0 , XYLT1 0.00 0 , XYLT2 0.00 0 , YAP1 0.00 0 , YWHAG 0.00 0 , YY1 0.00 0 , ZBTB18 0.00 0 , ZBTB20 0.00 0 , ZC4H2 0.00 0 , ZDHHC9 0.00 0 , ZEB2 0.00 0 , ZFP57 0.00 0 , ZFPM2 0.00 0 , ZFYVE26 0.00 0 , ZIC1 0.00 0 , ZIC2 0.00 0 , ZIC3 0.00 0 , ZMPSTE24 0.00 0 , ZMYND10 0.00 0 , ZMYND11 0.00 0 , ZNF423 0.00 0 , ZNF462 0.00 0 , ZNF469 0.00 0 , ZNF750 0.00 0 , ZNRF3 0.00 0 , ZPR1 0.00 0 , ZSWIM6 0.00 0 , -
Congenital malformation gene panel - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AAAS 100.00 0 No comment ABAT 100.00 0 No comment ABCC6 100.00 0 No comment ABCD1 99.93 0 No comment ABCD3 99.97 0 No comment ABL1 100.00 0 No comment ACAN 98.89 0 No comment ACO2 100.00 0 No comment ACTA1 100.00 0 No comment ACTB 100.00 0 No comment ACTG1 100.00 0 No comment ADAMTS10 99.88 0 No comment ADAMTS17 89.95 0 No comment ADAMTSL2 100.00 0 No comment ADAR 100.00 0 No comment ADGRG1 100.00 0 No comment ADGRG6 100.00 0 No comment ADSL 100.00 0 No comment AHI1 100.00 0 No comment AIMP1 100.00 0 No comment AIPL1 100.00 0 No comment AIRE 99.88 0 No comment AKR1C2 99.98 0 No comment AKT1 100.00 0 No comment AKT3 100.00 0 No comment ALDH1A3 99.83 0 No comment ALMS1 100.00 0 No comment ALPL 100.00 0 No comment ALX1 100.00 0 No comment ALX3 91.36 0 No comment ALX4 99.70 0 No comment AMER1 100.00 0 No comment AMT 99.94 0 No comment ANKRD11 100.00 0 No comment ANOS1 95.04 0 No comment ANTXR2 100.00 0 No comment AP4B1 100.00 0 No comment AR 99.29 0 No comment ARFGEF2 100.00 0 No comment ARHGAP31 100.00 0 No comment ARID1A 94.64 0 No comment ARID1B 92.99 0 No comment ARL13B 100.00 0 No comment ARL6 100.00 0 No comment ARVCF 100.00 0 No comment ARX 78.98 0 No comment ASNS 100.00 0 No comment ASPA 100.00 0 No comment ASPM 100.00 0 No comment ASS1 99.87 0 No comment ASXL1 99.91 0 No comment ATL1 100.00 0 No comment ATM 100.00 0 No comment ATP6V0A2 100.00 0 No comment ATP7A 100.00 0 No comment ATP8A2 99.93 0 No comment ANTXR1 100.00 0 No comment ATRX 100.00 0 No comment ATXN10 99.48 0 No comment B3GALNT2 85.88 0 No comment B3GALT6 56.12 0 No comment B3GAT3 95.56 0 No comment B3GLCT 94.89 0 No comment B4GALT1 100.00 0 No comment B4GAT1 100.00 0 No comment B9D1 100.00 0 No comment B9D2 100.00 0 No comment BBIP1 100.00 0 No comment BBS1 100.00 0 No comment BBS10 100.00 0 No comment BBS12 100.00 0 No comment BBS2 100.00 0 No comment BBS4 100.00 0 No comment BBS5 100.00 0 No comment BBS7 100.00 0 No comment BBS9 100.00 0 No comment BCOR 100.00 0 No comment BDNF 100.00 0 No comment BIN1 100.00 0 No comment BMP2 100.00 0 No comment BMP4 100.00 0 No comment BMPER 100.00 0 No comment BMPR1B 100.00 0 No comment BRAF 96.97 0 No comment BRIP1 100.00 0 No comment BSND 100.00 0 No comment BUB1 100.00 0 No comment BUB1B 100.00 0 No comment BUB3 100.00 0 No comment C12ORF57 100.00 0 No comment CACNA1A 98.78 0 No comment CASK 100.00 0 No comment CBL 100.00 0 No comment CC2D2A 98.16 0 No comment CCBE1 99.97 0 No comment CCDC28B 100.00 0 No comment CCM2 99.98 0 No comment CCNQ 84.41 0 No comment CD96 100.00 0 No comment CDC6 100.00 0 No comment CDH1 98.08 0 No comment CDKL5 100.00 0 No comment CDKN1C 62.25 0 No comment CDON 100.00 0 No comment CDT1 87.95 0 No comment CENPF 100.00 0 No comment CEP164 100.00 0 No comment CEP290 99.99 0 No comment CEP41 100.00 0 No comment CEP57 100.00 0 No comment CFTR 99.91 0 No comment CHAT 100.00 0 No comment CHD7 100.00 0 No comment CHMP1A 100.00 0 No comment CHN1 99.56 0 No comment CHRNA1 100.00 0 No comment CHRNB1 100.00 0 No comment CHRND 100.00 0 No comment CHRNE 100.00 0 No comment CHRNG 100.00 0 No comment CHST14 98.57 0 No comment CHST3 100.00 0 No comment CHSY1 91.67 0 No comment CHUK 99.76 0 No comment CKAP2L 100.00 0 No comment CNTN1 100.00 0 No comment COG4 100.00 0 No comment COL11A1 100.00 0 No comment COL11A2 99.14 0 No comment COL18A1 97.80 0 No comment COL1A1 100.00 0 No comment COL1A2 99.93 0 No comment COL2A1 100.00 0 No comment COL3A1 100.00 0 No comment COL4A1 98.71 0 No comment COL5A1 98.16 0 No comment COL5A2 100.00 0 No comment COL6A1 100.00 0 No comment COL6A2 100.00 0 No comment COL6A3 100.00 0 No comment COL7A1 100.00 0 No comment COL9A1 100.00 0 No comment COL9A2 100.00 0 No comment COLEC11 100.00 0 No comment COMT 100.00 0 No comment COX7B 99.88 0 No comment CPLANE1 100.00 0 No comment CPT2 98.71 0 No comment CRB1 100.00 0 No comment CREBBP 100.00 0 No comment CRH 100.00 0 No comment CRLF1 89.81 0 No comment CRPPA 95.75 0 No comment CRX 100.00 0 No comment CSPP1 100.00 0 No comment CTCF 100.00 0 No comment CTNS 100.00 0 No comment CTSA 100.00 0 No comment CUL7 99.99 0 No comment CXCR4 100.00 0 No comment CYP11B1 100.00 0 No comment CYP17A1 100.00 0 No comment CYP19A1 100.00 0 No comment CYP21A2 100.00 0 No comment CYP2U1 93.04 0 No comment DARS1 100.00 0 No comment DCHS1 99.64 0 No comment DCX 100.00 0 No comment DDHD2 100.00 0 No comment DDX59 100.00 0 No comment DHCR24 99.96 0 No comment DHCR7 100.00 0 No comment DHH 99.75 0 No comment DHODH 100.00 0 No comment DIS3L2 100.00 0 No comment DKC1 100.00 0 No comment DLL3 78.42 0 No comment DLX5 100.00 0 No comment DMD 100.00 0 No comment DMPK 99.97 0 No comment DNM2 99.95 0 No comment DOCK6 99.12 0 No comment DOK7 98.77 0 No comment DPYD 100.00 0 No comment DSP 100.00 0 No comment DUSP6 100.00 0 No comment DYM 100.00 0 No comment DYNC1H1 100.00 0 No comment DYNC2H1 100.00 0 No comment EARS2 100.00 0 No comment GLB1 100.00 0 No comment ECEL1 95.92 0 No comment EFNB1 100.00 0 No comment EFTUD2 100.00 0 No comment EGR2 100.00 0 No comment EHMT1 98.85 0 No comment EIF2AK3 95.52 0 No comment EIF4A3 100.00 0 No comment EMD 99.84 0 No comment EMG1 100.00 0 No comment EMX2 100.00 0 No comment EOGT 100.00 0 No comment EP300 100.00 0 No comment EPG5 100.00 0 No comment EPHX1 100.00 0 No comment ERBB3 100.00 0 No comment ERCC1 100.00 0 No comment ERCC2 100.00 0 No comment ERCC4 100.00 0 No comment ERCC5 100.00 0 No comment ERCC6 100.00 0 No comment ERLIN2 100.00 0 No comment ESCO2 100.00 0 No comment EVC 94.45 0 No comment EVC2 99.55 0 No comment EYA1 100.00 0 No comment EZH2 100.00 0 No comment FA2H 92.06 0 No comment FAM111A 100.00 0 No comment FAM20C 92.71 0 No comment FANCA 99.70 0 No comment FANCB 100.00 0 No comment FANCC 100.00 0 No comment FANCD2 100.00 0 No comment FANCE 91.17 0 No comment FANCF 100.00 0 No comment FANCG 100.00 0 No comment FANCI 100.00 0 No comment FANCL 100.00 0 No comment FANCM 100.00 0 No comment FAT4 100.00 0 No comment FBN1 100.00 0 No comment FBN2 100.00 0 No comment FBXL4 100.00 0 No comment FGD1 99.39 0 No comment FGF10 100.00 0 No comment FGF17 100.00 0 No comment FGF8 94.82 0 No comment FGF9 100.00 0 No comment FGFR1 100.00 0 No comment FGFR2 100.00 0 No comment FGFR3 99.26 0 No comment FH 100.00 0 No comment FIG4 100.00 0 No comment FKBP14 100.00 0 No comment FKRP 98.68 0 No comment FKTN 100.00 0 No comment FLNA 100.00 0 No comment FLNB 100.00 0 No comment FLRT3 100.00 0 No comment FLT4 98.20 0 No comment FLVCR2 100.00 0 No comment FOXC1 62.57 0 No comment FOXC2 72.63 0 No comment FOXE1 60.48 0 No comment FOXG1 85.88 0 No comment FRAS1 100.00 0 No comment FREM1 100.00 0 No comment FREM2 100.00 0 No comment FTO 100.00 0 No comment FUZ 100.00 0 No comment G6PC3 100.00 0 No comment GAA 100.00 0 No comment GATA1 100.00 0 No comment GATA4 80.69 0 No comment GATA6 81.11 0 No comment GBA1 100.00 0 No comment GBA2 100.00 0 No comment GBE1 100.00 0 No comment GCSH 76.04 0 No comment GDF1 58.25 0 No comment GDF3 100.00 0 No comment GDF5 100.00 0 No comment GDF6 93.56 0 No comment GFAP 100.00 0 No comment GFM1 100.00 0 No comment GJA1 100.00 0 No comment GJB2 98.23 0 No comment GJC2 81.91 0 No comment GLDC 96.53 0 No comment GLE1 100.00 0 No comment GLI2 95.11 0 No comment GLI3 100.00 0 No comment GLUL 100.00 0 No comment GMPPB 100.00 0 No comment GNAI3 100.00 0 No comment GNAO1 100.00 0 No comment GNPTAB 100.00 0 No comment GNPTG 94.69 0 No comment GP1BB 25.16 0 No comment GPC3 100.00 0 No comment GPC6 100.00 0 No comment GPI 100.00 0 No comment GPSM2 100.00 0 No comment GRHL3 100.00 0 No comment GRIP1 100.00 0 No comment GRM1 100.00 0 No comment GUCY2D 99.13 0 No comment GUSB 100.00 0 No comment H19 100.00 0 No comment HADHA 100.00 0 No comment HADHB 100.00 0 No comment HCCS 100.00 0 No comment HDAC8 100.00 0 No comment HES7 99.67 0 No comment HESX1 100.00 0 No comment HIBCH 100.00 0 No comment HIRA 99.90 0 No comment HOXA11 99.40 0 No comment HOXA13 73.35 0 No comment HOXA2 99.99 0 No comment HOXD13 80.52 0 No comment HPGD 99.99 0 No comment HRAS 100.00 0 No comment HS6ST1 98.52 0 No comment HSD17B3 100.00 0 No comment HSD17B4 100.00 0 No comment HSPG2 99.43 0 No comment HYAL1 100.00 0 No comment HYLS1 100.00 0 No comment IBA57 87.89 0 No comment CILK1 100.00 0 No comment IDS 100.00 0 No comment IDUA 88.67 0 No comment IER3IP1 99.93 0 No comment IFIH1 100.00 0 No comment IFT172 100.00 0 No comment IFT27 100.00 0 No comment IFT80 100.00 0 No comment IFT88 99.71 0 No comment IGBP1 100.00 0 No comment IGHMBP2 100.00 0 No comment IHH 99.88 0 No comment IKBKG 99.74 0 No comment IL10 100.00 0 No comment IL17RD 98.31 0 No comment IMPDH1 97.72 0 No comment INPP5E 99.54 0 No comment INSR 97.31 0 No comment IQCB1 100.00 0 No comment IRF6 100.00 0 No comment ITGA6 100.00 0 No comment ITGA8 99.96 0 No comment ITGB4 98.41 0 No comment ITPR1 100.00 0 No comment JAG1 99.66 0 No comment JAM3 100.00 0 No comment JUP 100.00 0 No comment KANSL1 100.00 0 No comment KAT6B 100.00 0 No comment KCNA1 100.00 0 No comment KCNJ13 100.00 0 No comment KCNJ2 100.00 0 No comment KCNK9 100.00 0 No comment KCNQ1OT1 0.55 0 No comment KCNQ2 99.98 0 No comment KCNT1 99.74 0 No comment KCTD1 92.53 0 No comment KCTD7 97.35 0 No comment KDM6A 100.00 0 No comment KIF14 100.00 0 No comment KIF1A 99.90 0 No comment KIFBP 100.00 0 No comment KIF2A 98.88 0 No comment KIF5C 100.00 0 No comment KIF7 96.94 0 No comment KISS1R 94.58 0 No comment KMT2D 100.00 0 No comment KRAS 100.00 0 No comment L1CAM 100.00 0 No comment L2HGDH 99.96 0 No comment LAMA2 100.00 0 No comment LAMB1 100.00 0 No comment LAMC3 97.51 0 No comment LARGE1 100.00 0 No comment LBR 100.00 0 No comment LCA5 100.00 0 No comment LEMD3 100.00 0 No comment LFNG 82.55 0 No comment LHB 97.18 0 No comment LHX3 94.36 0 No comment LHX4 100.00 0 No comment LIFR 100.00 0 No comment LMBR1 100.00 0 No comment LMNA 99.93 0 No comment LMNB1 97.46 0 No comment LMX1B 99.99 0 No comment LRAT 100.00 0 No comment LRP2 99.96 0 No comment CORIN 98.90 0 No comment LZTFL1 100.00 0 No comment MAP2K1 100.00 0 No comment MAP2K2 99.98 0 No comment MAP3K1 92.79 0 No comment MASP1 100.00 0 No comment MBTPS2 100.00 0 No comment MCOLN1 97.27 0 No comment MCPH1 100.00 0 No comment MED12 99.96 0 No comment MEF2C 100.00 0 No comment MEGF10 100.00 0 No comment MEOX1 100.00 0 No comment MESP2 100.00 0 No comment MFRP 100.00 0 No comment MGP 100.00 0 No comment MID1 100.00 0 No comment MIPOL1 100.00 0 No comment MKKS 100.00 0 No comment MKS1 100.00 0 No comment MLH1 100.00 0 No comment MOCS1 99.95 0 No comment MOCS2 100.00 0 No comment MPL 100.00 0 No comment MPZ 100.00 0 No comment MRPS16 100.00 0 No comment MRPS22 100.00 0 No comment MSH2 100.00 0 No comment MSH6 100.00 0 No comment MSX1 97.41 0 No comment MSX2 100.00 0 No comment MTM1 100.00 0 No comment MUSK 100.00 0 No comment MVK 100.00 0 No comment MYBPC1 100.00 0 No comment MYH2 100.00 0 No comment MYH3 100.00 0 No comment MYH8 100.00 0 No comment MYOD1 98.47 0 No comment NAA10 96.03 0 No comment NBN 100.00 0 No comment NDE1 100.00 0 No comment NEB 99.99 0 No comment NECTIN1 100.00 0 No comment NEK1 100.00 0 No comment NEXMIF 100.00 0 No comment NF1 99.95 0 No comment NFIX 97.15 0 No comment NIN 100.00 0 No comment NIPBL 99.98 0 No comment NKX2-5 100.00 0 No comment NMNAT1 100.00 0 No comment NODAL 99.99 0 No comment NOG 100.00 0 No comment NOTCH2 99.76 0 No comment NPC1 98.40 0 No comment NPC2 100.00 0 No comment NPHP1 100.00 0 No comment NPHP3 99.87 0 No comment NPRL2 100.00 0 No comment NR0B1 100.00 0 No comment NR5A1 100.00 0 No comment NRAS 100.00 0 No comment NSD1 100.00 0 No comment NSDHL 100.00 0 No comment NSMF 95.23 0 No comment NT5C2 100.00 0 No comment OBSL1 98.31 0 No comment OCLN 100.00 0 No comment OCRL 99.77 0 No comment OFD1 99.88 0 No comment OPHN1 100.00 0 No comment SLC25A15 100.00 0 No comment ORC4 100.00 0 No comment ORC6 100.00 0 No comment OTX2 100.00 0 No comment PAFAH1B1 100.00 0 No comment PALB2 100.00 0 No comment PAX2 99.80 0 No comment PAX3 100.00 0 No comment PAX6 100.00 0 No comment PCNT 100.00 0 No comment PDE4D 98.77 0 No comment PDE6D 100.00 0 No comment PDGFB 99.77 0 No comment PDGFRB 100.00 0 No comment PDHA1 98.17 0 No comment PDHB 100.00 0 No comment PDHX 99.87 0 No comment PDYN 100.00 0 No comment PEX1 100.00 0 No comment PEX10 88.47 0 No comment PEX11B 100.00 0 No comment PEX12 100.00 0 No comment PEX13 100.00 0 No comment PEX14 100.00 0 No comment PEX16 100.00 0 No comment PEX19 100.00 0 No comment PEX2 100.00 0 No comment PEX26 100.00 0 No comment PEX3 100.00 0 No comment PEX5 100.00 0 No comment PEX6 98.56 0 No comment PEX7 91.13 0 No comment PFKM 100.00 0 No comment PGM1 100.00 0 No comment PHF6 100.00 0 No comment PHF8 100.00 0 No comment PIGA 100.00 0 No comment PIGL 100.00 0 No comment PIGV 100.00 0 No comment PIK3CA 100.00 0 No comment PIK3R2 89.19 0 No comment PIP5K1C 95.60 0 No comment PITX1 98.27 0 No comment PKHD1 100.00 0 No comment PLCB4 100.00 0 No comment PLEC 99.82 0 No comment PLK4 100.00 0 No comment PLOD1 99.91 0 No comment PLOD3 100.00 0 No comment PLP1 100.00 0 No comment PMM2 100.00 0 No comment PMP22 100.00 0 No comment PMS2 99.97 0 No comment PNKP 100.00 0 No comment POLR1C 100.00 0 No comment POLR1D 100.00 0 No comment POLR3A 100.00 0 No comment POMGNT1 100.00 0 No comment POMGNT2 100.00 0 No comment POMK 100.00 0 No comment POMT1 100.00 0 No comment POMT2 99.90 0 No comment PORCN 100.00 0 No comment POU1F1 100.00 0 No comment PQBP1 100.00 0 No comment PRDM5 100.00 0 No comment PRG4 100.00 0 No comment PRKAR1A 100.00 0 No comment PROK2 98.51 0 No comment PROKR2 100.00 0 No comment PROP1 100.00 0 No comment PRRX1 100.00 0 No comment PRSS56 98.00 0 No comment PRX 100.00 0 No comment PSAP 100.00 0 No comment PSAT1 100.00 0 No comment PTCH1 98.48 0 No comment PTCH2 100.00 0 No comment PTDSS1 100.00 0 No comment PTEN 98.86 0 No comment PTH1R 99.01 0 No comment PTPN11 98.80 0 No comment PYCR1 100.00 0 No comment RAB18 100.00 0 No comment RAB23 100.00 0 No comment RAB3GAP1 100.00 0 No comment RAB3GAP2 100.00 0 No comment RAB40AL 100.00 0 No comment RAD21 100.00 0 No comment RAD51C 100.00 0 No comment RAF1 100.00 0 No comment RAI1 96.06 0 No comment RAPSN 100.00 0 No comment PRKRA 90.07 0 No comment RB1 99.04 0 No comment RBM10 100.00 0 No comment RBM8A 100.00 0 No comment RD3 100.00 0 No comment RDH12 100.00 0 No comment RECQL4 96.37 0 No comment RELN 99.96 0 No comment RET 98.13 0 No comment RIPK4 100.00 0 No comment RIT1 100.00 0 No comment RMND1 100.00 0 No comment RMRP 100.00 0 No comment RNASEH2A 100.00 0 No comment RNASEH2B 95.67 0 No comment RNASEH2C 100.00 0 No comment RNU4ATAC 100.00 0 No comment ROR2 98.67 0 No comment RPE65 100.00 0 No comment RPGRIP1 100.00 0 No comment RPGRIP1L 96.45 0 No comment RPL11 100.00 0 No comment RPL15 86.16 0 No comment RPL26 100.00 0 No comment RPL35A 100.00 0 No comment RPL5 99.37 0 No comment RPS10 100.00 0 No comment RPS17 98.70 0 No comment RPS19 100.00 0 No comment RPS24 100.00 0 No comment RPS26 100.00 0 No comment RPS6KA3 98.71 0 No comment RPS7 92.83 0 No comment RTTN 100.00 0 No comment RUNX2 98.51 0 No comment RXYLT1 99.84 0 No comment RYR1 98.38 0 No comment SACS 99.97 0 No comment SALL1 100.00 0 No comment SALL4 100.00 0 No comment SAMHD1 100.00 0 No comment SATB2 100.00 0 No comment SC5D 100.00 0 No comment SCARF2 86.46 0 No comment SDCCAG8 100.00 0 No comment SEC23A 100.00 0 No comment SELENON 84.04 0 No comment SEMA3A 100.00 0 No comment SEMA3E 100.00 0 No comment SEPSECS 99.97 0 No comment SEPTIN9 100.00 0 No comment SETBP1 99.99 0 No comment SF3B4 100.00 0 No comment SH3PXD2B 99.68 0 No comment SHANK3 83.99 0 No comment SHH 92.83 0 No comment SHOC2 100.00 0 No comment SIX1 100.00 0 No comment SIX3 99.59 0 No comment SIX5 88.67 0 No comment SIX6 100.00 0 No comment HHAT 90.28 0 No comment SLC12A1 100.00 0 No comment SLC12A6 100.00 0 No comment SLC20A2 100.00 0 No comment SLC25A19 100.00 0 No comment SLC26A2 99.96 0 No comment SLC2A10 98.97 0 No comment SLC35A2 100.00 0 No comment SLC35A3 100.00 0 No comment SLC35D1 99.99 0 No comment SLC6A8 98.78 0 No comment SLC9A6 99.96 0 No comment SLX4 100.00 0 No comment SMAD3 100.00 0 No comment SMAD4 100.00 0 No comment SMARCA4 100.00 0 No comment SMARCB1 100.00 0 No comment SMARCE1 100.00 0 No comment SMC1A 100.00 0 No comment SMC3 100.00 0 No comment SMOC1 99.36 0 No comment SNAP29 100.00 0 No comment SNIP1 100.00 0 No comment SOS1 100.00 0 No comment SOX10 96.79 0 No comment SOX2 98.05 0 No comment SOX3 85.62 0 No comment SOX9 97.88 0 No comment SPATA7 100.00 0 No comment SPECC1L 100.00 0 No comment SPG11 100.00 0 No comment SPRED1 100.00 0 No comment SPRY4 100.00 0 No comment SPTAN1 100.00 0 No comment SRD5A2 100.00 0 No comment SRD5A3 99.42 0 No comment SRY 39.13 0 No comment STAC3 100.00 0 No comment STAMBP 100.00 0 No comment STAT3 100.00 0 No comment STS 100.00 0 No comment STXBP1 100.00 0 No comment SUFU 100.00 0 No comment SUMO1 99.91 0 No comment SYNE1 100.00 0 No comment TACR3 100.00 0 No comment TAF2 100.00 0 No comment WWTR1 99.81 0 No comment TBC1D20 93.59 0 No comment TBX1 77.39 0 No comment TBX15 100.00 0 No comment TBX22 100.00 0 No comment TBX3 99.88 0 No comment TBX4 94.32 0 No comment TBX5 100.00 0 No comment TBX6 100.00 0 No comment TBXT 100.00 0 No comment TCF4 100.00 0 No comment TCOF1 99.99 0 No comment TCTN1 93.78 0 No comment TCTN2 100.00 0 No comment TCTN3 100.00 0 No comment TECPR2 100.00 0 No comment TFAP2A 100.00 0 No comment TGFB3 100.00 0 No comment TGFBR1 92.91 0 No comment TGFBR2 100.00 0 No comment TGIF1 100.00 0 No comment TMCO1 100.00 0 No comment TMEM138 100.00 0 No comment TMEM216 100.00 0 No comment TMEM231 100.00 0 No comment TMEM237 99.97 0 No comment TMEM67 100.00 0 No comment TMEM70 100.00 0 No comment TNNI2 100.00 0 No comment TNNT3 100.00 0 No comment TNXB 100.00 0 No comment TP63 100.00 0 No comment TPM2 100.00 0 No comment TRAPPC9 99.98 0 No comment TREM2 100.00 0 No comment TREX1 100.00 0 No comment TRIM32 100.00 0 No comment TRIP11 100.00 0 No comment TRPV4 100.00 0 No comment TSC1 100.00 0 No comment TSC2 100.00 0 No comment TSEN34 100.00 0 No comment TSEN54 94.23 0 No comment TSPYL1 100.00 0 No comment TTC8 100.00 0 No comment TUBA1A 100.00 0 No comment TUBA8 100.00 0 No comment TUBB2B 100.00 0 No comment TUBB3 98.24 0 No comment TUBGCP6 100.00 0 No comment TULP1 100.00 0 No comment TWIST1 70.93 0 No comment TYR 100.00 0 No comment TYROBP 100.00 0 No comment UBA1 100.00 0 No comment UBB 100.00 0 No comment UBE3A 100.00 0 No comment UBE3B 100.00 0 No comment UFD1 100.00 0 No comment UPF3B 100.00 0 No comment UPK3A 99.39 0 No comment UTRN 100.00 0 No comment VANGL1 100.00 0 No comment VANGL2 100.00 0 No comment VAX1 89.49 0 No comment VIPAS39 100.00 0 No comment VPS13B 99.25 0 No comment VPS33B 100.00 0 No comment VSX2 100.00 0 No comment VTI1A 100.00 0 No comment WASHC5 100.00 0 No comment WDPCP 100.00 0 No comment WDR11 100.00 0 No comment WDR19 100.00 0 No comment DYNC2I2 93.01 0 No comment WDR35 100.00 0 No comment DYNC2I1 99.86 0 No comment WDR62 100.00 0 No comment WDR81 99.97 0 No comment WNT10B 98.99 0 No comment WNT3 100.00 0 No comment WNT4 92.22 0 No comment WNT5A 99.97 0 No comment WNT7A 100.00 0 No comment WT1 96.46 0 No comment WWOX 100.00 0 No comment ZBTB18 100.00 0 No comment ZDHHC9 100.00 0 No comment ZEB2 100.00 0 No comment ZFPM2 99.96 0 No comment ZFYVE26 100.00 0 No comment ZIC1 100.00 0 No comment ZIC2 80.54 0 No comment ZMPSTE24 100.00 0 No comment ZNF423 100.00 0 No comment ZNF469 99.70 0 No comment -
Congenital structural heart defects - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AATK 99.98 1 ABL1 100.00 1 ACAN 91.51 1 ACTA1 99.99 1 ACTB 100.00 1 ACTC1 98.57 1 ACTG1 100.00 1 ACTN2 99.99 1 ACVR1 99.94 1 ACVR1B 99.99 1 ACVR2A 99.15 1 ACVR2B 99.99 1 ACVRL1 99.88 1 ADAMTS10 99.99 1 ADNP 100.00 1 AKAP12 100.00 1 AKT1 100.00 1 AKT2 99.85 1 ALDH1A2 99.97 1 ALX3 99.74 1 ANKRD1 99.57 1 ANKRD11 99.85 1 AP1B1 99.99 1 APAF1 98.70 1 AR 99.76 1 ARHGAP31 100.00 1 ARID4A 99.90 1 ATP2A2 99.98 1 ATRX 99.44 1 AXIN1 100.00 1 BCOR 99.97 1 BMP10 99.96 1 BMP2 99.79 1 BMP4 100.00 1 BMP6 100.00 1 BMP7 100.00 1 BMPR1A 99.58 1 BMPR2 99.95 1 BRAF 99.78 1 BRIP1 99.39 1 BVES 99.83 1 CASQ2 94.39 1 CAV1 99.97 1 CAV3 100.00 1 CBL 99.95 1 CCDC103 99.68 1 CCDC39 99.74 1 CCDC40 100.00 1 CCDC65 99.80 1 CCN1 99.99 1 CCNO 100.00 1 CD96 99.91 1 CDK13 99.83 1 CDK4 100.00 1 CDX2 100.00 1 CENPF 99.97 1 CFAP53 99.95 1 CFC1 21.93 1 CHAC2 99.68 1 CHD4 99.99 1 CHD7 99.99 1 CHD8 99.96 1 CITED2 100.00 1 COL1A1 99.90 1 COL1A2 99.34 1 COL2A1 99.87 1 COX7B 99.86 1 CREBBP 99.97 1 CRELD1 99.99 1 CRIP2 99.99 1 CRYAB 100.00 1 CSNK1D 99.99 1 CSRP1 99.75 1 CSRP3 100.00 1 CTNNB1 99.95 1 DDX3X 99.01 1 DES 100.00 1 DIAPH3 99.85 1 DICER1 99.96 1 DLGAP5 99.83 1 DLL1 99.99 1 DLL4 100.00 1 DNAAF1 99.99 1 DNAAF11 99.80 1 DNAAF2 99.91 1 DNAAF3 99.99 1 DNAAF4 99.78 1 DNAAF5 99.99 1 DNAH11 99.93 1 DNAH5 99.98 1 DNAI1 99.92 1 DNAI2 99.86 1 DNAJB13 99.91 1 DNAH9 99.79 1 DRC1 99.93 1 DSCAM 99.99 1 DVL1 100.00 1 DYRK1A 99.98 1 E2F1 99.99 1 ECE1 99.92 1 EDNRA 99.97 1 EFEMP2 99.94 1 EFNB1 99.95 1 EFTUD2 99.93 1 EGFR 99.68 1 EGR1 99.99 1 EHMT1 98.38 1 ELN 99.86 1 ENG 100.00 1 EOGT 99.09 1 EP300 99.97 1 EPHB2 99.86 1 EPHB4 99.82 1 ERBB2 99.98 1 ERCC4 99.92 1 ESR2 99.96 1 ETS1 99.99 1 EVC 99.95 1 EVC2 99.97 1 EWSR1 99.94 1 EZH2 99.89 1 F2R 99.98 1 FABP3 99.87 1 FADD 99.97 1 FANCA 100.00 1 FANCB 99.24 1 FANCC 99.98 1 FANCD2 99.86 1 FANCE 99.99 1 FANCF 100.00 1 FANCG 100.00 1 FANCI 99.96 1 FANCL 99.67 1 FBLN1 98.69 1 FBLN7 99.95 1 FBN1 99.85 1 FBN2 99.90 1 FGF10 99.95 1 FGF8 100.00 1 FGFR1 100.00 1 FGFR2 99.99 1 FGFR3 100.00 1 FHL2 100.00 1 FIBP 99.83 1 FLII 100.00 1 FLNA 99.99 1 FLNC 99.99 1 FLT1 99.99 1 FLT4 97.93 1 FN1 99.95 1 FOXC1 100.00 1 FOXC2 100.00 1 FOXH1 100.00 1 FOXK2 99.76 1 FOXL1 100.00 1 FOXL2 99.97 1 FOXO1 100.00 1 FOXP1 99.98 1 FSCN2 100.00 1 G6PC3 99.98 1 GAS8 100.00 1 GATA2 99.99 1 GATA4 99.99 1 GATA5 100.00 1 GATA6 99.90 1 GATAD2B 99.44 1 GDF1 100.00 1 GDF11 99.97 1 GDF5 100.00 1 GDNF 99.99 1 GJA1 100.00 1 GJA5 100.00 1 GJD2 99.99 1 GLB1 100.00 1 GLI2 99.93 1 GLI3 100.00 1 GPC3 99.60 1 GPC5 99.96 1 GPC6 99.98 1 GRK5 99.97 1 GTF2I 47.18 1 GTF2IRD1 99.77 1 HAND1 99.99 1 HAND2 99.97 1 HDAC8 99.74 1 HES4 100.00 1 HEY2 99.75 1 HIF1A 99.87 1 HMGB2 99.99 1 HNF1A 100.00 1 HNF4A 100.00 1 HOXA1 100.00 1 HOXB2 99.99 1 HRAS 100.00 1 HSPB1 99.97 1 HSPB8 100.00 1 HSPG2 99.87 1 HYDIN 81.28 1 ID2 100.00 1 IGF1R 100.00 1 IGFBP4 99.85 1 IKBKB 99.93 1 ILK 100.00 1 INHBA 99.98 1 INHBC 99.99 1 INPP5D 99.98 1 INSR 99.99 1 IRS1 100.00 1 IRX4 99.99 1 ISL1 99.99 1 ITGAV 99.40 1 ITGB1 99.96 1 ITGB3 99.83 1 ITGB4 99.99 1 JAG1 100.00 1 JAM3 100.00 1 JUN 100.00 1 KANSL1 99.85 1 KAT6A 99.93 1 KAT6B 99.79 1 KDM3B 99.98 1 KDM5A 99.90 1 KDM5B 97.15 1 KDM6A 99.74 1 KDR 99.86 1 KIT 99.86 1 KMT2D 99.98 1 KRAS 99.13 1 KREMEN1 99.88 1 LAMA2 99.95 1 LAMA5 99.99 1 LAMC1 99.55 1 LBR 99.66 1 LEFTY1 99.98 1 LEFTY2 100.00 1 LHX3 99.99 1 LMNA 99.96 1 LMX1B 100.00 1 LRP2 99.86 1 LTBP1 99.95 1 LTBP3 99.96 1 LZTR1 99.46 1 MAFG 100.00 1 MAP2K1 99.98 1 MAP2K2 99.99 1 MAPK14 99.95 1 MCTP2 99.99 1 MECOM 99.97 1 MED13L 99.99 1 MEF2C 99.57 1 MEGF8 99.90 1 MESP1 100.00 1 MET 99.97 1 METTL3 99.98 1 MGP 99.95 1 MID1 99.90 1 MITF 99.98 1 MMP2 99.96 1 MMP21 99.99 1 MSX1 100.00 1 MTHFD1 100.00 1 MTHFR 99.97 1 MTRR 99.98 1 MYBPC3 99.98 1 MYC 100.00 1 MYH10 99.91 1 MYH11 99.16 1 MYH6 100.00 1 MYH7 99.99 1 MYH9 99.95 1 MYL2 99.99 1 MYL3 99.99 1 MYL7 99.95 1 MYOCD 99.99 1 MYOM1 99.98 1 MYOZ2 99.99 1 NF1 99.88 1 NFATC1 100.00 1 NFIX 99.99 1 NFKB1 99.80 1 NID2 99.97 1 NIPBL 99.34 1 NKX2-1 100.00 1 NKX2-5 99.75 1 NKX2-6 100.00 1 NME8 99.83 1 NNMT 100.00 1 NODAL 99.98 1 NONO 99.94 1 NOS3 93.73 1 NOTCH1 99.98 1 NOTCH2 99.03 1 NOTCH3 99.99 1 NPHP3 99.89 1 NPHP4 99.98 1 NPPA 100.00 1 NR2F2 100.00 1 NR4A2 99.97 1 NRAS 99.66 1 NRP1 99.99 1 NRP2 99.98 1 NSD1 99.98 1 ODAD1 96.04 1 ODAD2 98.19 1 ODAD3 99.96 1 ODAD4 99.85 1 OTX2 100.00 1 PACS1 99.96 1 PAX3 100.00 1 PCSK5 99.97 1 PDGFC 99.97 1 PDGFRA 99.94 1 PDGFRB 99.99 1 PDHX 100.00 1 PIGA 99.81 1 PIGL 99.98 1 PIGN 99.91 1 PIGT 99.95 1 PITX2 99.98 1 PKD1L1 99.84 1 PLAGL1 99.96 1 PLAT 99.99 1 POU5F1 100.00 1 PPARG 99.96 1 PPARGC1A 99.82 1 PPP3CA 99.84 1 PRKACA 99.95 1 PRKD1 99.96 1 PROX1 99.98 1 PRRX1 99.56 1 PSEN1 100.00 1 PSEN2 99.97 1 PTEN 99.89 1 PTK2 99.97 1 PTP4A3 99.99 1 PTPN11 99.98 1 PUF60 100.00 1 RAB23 99.97 1 RAD21 99.91 1 RAD51C 99.02 1 RAF1 99.97 1 RAI1 99.22 1 RAI2 99.98 1 RARB 99.99 1 RARG 99.98 1 RB1 99.84 1 RBBP7 99.87 1 RBL2 99.44 1 RBM10 99.98 1 RBM8A 99.37 1 RELA 99.99 1 RERE 99.94 1 RET 99.97 1 RGS19 99.88 1 RIT1 99.78 1 RNF20 99.93 1 ROR2 99.99 1 RPGR 94.45 1 RPL11 99.81 1 RPL15 31.77 1 RPL26 30.55 1 RPL35A 97.55 1 RPL5 28.81 1 RPS10 0.00 1 RPS17 100.00 1 RPS19 100.00 1 RPS24 91.48 1 RPS26 8.99 1 RPS28 100.00 1 RPS29 99.96 1 RPS7 88.50 1 RSPH1 99.87 1 RSPH3 99.94 1 RSPH4A 99.95 1 RSPH9 99.99 1 RYR2 99.94 1 SALL1 100.00 1 SALL4 100.00 1 SCN5A 100.00 1 SESN1 99.95 1 SF3B4 99.65 1 SGCA 100.00 1 SH3PXD2B 100.00 1 SHH 100.00 1 SHOC2 99.96 1 HHAT 99.98 1 SLC19A1 99.99 1 SLC25A4 100.00 1 SLC2A10 100.00 1 SLX4 100.00 1 SMAD2 99.92 1 SMAD3 99.99 1 SMAD4 99.97 1 SMAD6 100.00 1 SMARCE1 99.87 1 SMC1A 99.98 1 SMC3 99.91 1 SMG9 99.99 1 SOS1 99.68 1 SOS2 99.39 1 SOX2 100.00 1 SOX4 99.36 1 SP1 99.98 1 SPAG1 99.78 1 SPATC1L 99.99 1 SPECC1L 99.98 1 SRCAP 99.99 1 SRF 99.99 1 STAT3 99.97 1 STRA6 99.95 1 SUZ12 98.58 1 TAB2 99.75 1 TBX1 99.95 1 TBX2 99.97 1 TBX20 99.99 1 TBX3 100.00 1 TBX5 99.98 1 TBX6 99.99 1 TCAP 100.00 1 TCF21 100.00 1 TCF3 100.00 1 TCN2 100.00 1 CRIPTO 99.82 1 TEAD1 99.97 1 TEK 99.98 1 TFAP2A 100.00 1 TFAP2B 99.98 1 TFAP2C 100.00 1 TGFB1 100.00 1 TGFB2 99.87 1 TGFB3 100.00 1 TGFBR1 99.94 1 TGFBR2 99.98 1 TGIF1 100.00 1 THBS1 100.00 1 THBS4 100.00 1 THOC5 99.90 1 THRB 99.82 1 DDR2 97.39 1 TLL1 99.94 1 TNFRSF11A 100.00 1 TNFRSF1A 100.00 1 TNNI3 100.00 1 TNNT2 99.87 1 TNR 99.80 1 TP53 99.98 1 TP73 100.00 1 TPM1 99.92 1 TRPM2 99.99 1 TSR2 99.96 1 TTN 99.15 1 TWIST1 100.00 1 UBE2B 99.94 1 UBE2T 99.89 1 USP44 99.86 1 USP9X 99.84 1 VCAN 99.99 1 VDR 99.86 1 VEGFA 99.99 1 VEGFC 99.96 1 WASHC5 99.98 1 WDR5 100.00 1 WNT11 100.00 1 WT1 99.99 1 YY1 100.00 1 ZEB2 99.97 1 ZFHX3 99.96 1 ZFPM2 100.00 1 ZIC3 99.90 1 ZMYND10 99.99 1 -
End-stage renal disease (106 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACTN4 100.00 1 NM_004924.6 AGT 100.00 1 NM_001384479.1 AGXT 100.00 1 NM_000030.3 AHI1 100.00 1 NM_001134831.2 ALMS1 100.00 1 NM_001378454.1 ANKFY1 100.00 1 NM_001330063.2 ANLN 100.00 1 NM_018685.5 APOL1 100.00 1 NM_003661.4 APRT 100.00 1 NM_000485.3 ARHGAP24 100.00 1 NM_001025616.3 ARHGDIA 100.00 1 NM_004309.6 AVIL 100.00 1 NM_006576.4 BNC2 100.00 1 NM_017637.6 BSND 100.00 1 NM_057176.3 CC2D2A 100.00 1 NM_001378615.1 CD151 100.00 1 NM_004357.5 CD2AP 100.00 1 NM_012120.3 CEP164 100.00 1 NM_014956.5 CEP290 100.00 1 NM_025114.4 CEP83 100.00 1 NM_016122.3 CFHR5 100.00 1 NM_030787.4 CLCN5 100.00 1 NM_001127898.4 CLCNKA 100.00 1 NM_004070.4 CLCNKB 100.00 1 NM_000085.5 COL4A3 100.00 1 NM_000091.5 COL4A4 100.00 1 NM_000092.5 COL4A5 100.00 1 NM_033380.3 COL4A6 100.00 1 NM_033641.4 COQ8B 100.00 1 NM_024876.4 CPT2 100.00 1 NM_000098.3 CRB2 100.00 1 NM_173689.7 CTNS 100.00 1 NM_004937.3 DCDC2 100.00 1 NM_016356.5 DGKE 100.00 1 NM_003647.3 DNAJB11 100.00 1 NM_016306.6 DSTYK 100.00 1 NM_015375.3 DZIP1L 100.00 1 NM_173543.3 EHHADH 100.00 1 NM_001966.4 EMP2 100.00 1 NM_001424.6 FAN1 100.00 1 NM_014967.5 FN1 100.00 1 NM_212482.4 GANAB 100.00 1 NM_198334.3 GAPVD1 100.00 1 NM_001282680.3 GATM 100.00 1 NM_001482.3 GLIS2 100.00 1 NM_032575.3 GON7 100.00 1 NM_032490.5 GSN 100.00 1 NM_198252.3 HNF1B 100.00 1 NM_000458.4 IFT140 100.00 1 NM_014714.4 IFT43 100.00 1 NM_001102564.3 INF2 100.00 1 NM_022489.4 INVS 100.00 1 NM_014425.5 IQCB1 100.00 1 NM_001023570.4 JAG1 100.00 1 NM_000214.3 LAGE3 100.00 1 NM_006014.5 LAMB2 100.00 1 NM_002292.4 LMX1B 100.00 1 NM_001174147.2 LZTFL1 100.00 1 NM_020347.4 MAGI2 100.00 1 NM_012301.4 MAPKBP1 100.00 1 NM_014994.3 MEFV 100.00 1 NM_000243.3 MMUT 100.00 1 NM_000255.4 MYO1E 100.00 1 NM_004998.4 MYOCD 100.00 1 NM_001146312.3 NDUFAF6 100.00 1 NM_152416.4 NEK8 100.00 1 NM_178170.3 NOS1AP 100.00 1 NM_014697.3 NPHP1 100.00 1 NM_001128178.3 NPHP3 100.00 1 NM_153240.5 NPHP4 100.00 1 NM_015102.5 NPHS1 100.00 1 NM_004646.4 NPHS2 100.00 1 NM_014625.4 NUP107 100.00 1 NM_020401.4 NUP133 100.00 1 NM_018230.3 NUP160 100.00 1 NM_015231.3 NUP205 100.00 1 NM_015135.3 NUP85 100.00 1 NM_024844.5 NUP93 100.00 1 NM_014669.5 OSGEP 100.00 1 NM_017807.4 PAX2 100.00 1 NM_000278.5 PKD1 100.00 1 NM_001009944.3 PKD2 100.00 1 NM_000297.4 PKHD1 100.00 1 NM_138694.4 PLCE1 100.00 1 NM_016341.4 PTPRO 100.00 1 NM_030667.3 RPGRIP1L 96.00 1 NM_015272.5 SDCCAG8 100.00 1 NM_006642.5 SGPL1 100.00 1 NM_003901.4 SLC34A1 100.00 1 NM_003052.5 SLC37A4 100.00 1 NM_001164279.2 SLC41A1 100.00 1 NM_173854.6 SMARCAL1 100.00 1 NM_014140.4 TBC1D8B 100.00 1 NM_017752.3 TMEM231 100.00 1 NM_001077418.3 TMEM67 100.00 1 NM_153704.6 TP53RK 100.00 1 NM_033550.4 TPRKB 100.00 1 NM_016058.5 TRAF3IP1 100.00 1 NM_015650.4 TRPC6 100.00 1 NM_004621.6 TSC1 100.00 1 NM_000368.5 TSC2 100.00 1 NM_000548.5 TTC21B 100.00 1 NM_024753.5 WDR19 100.00 1 NM_025132.4 WT1 100.00 1 NM_024426.6 XPNPEP3 100.00 1 NM_022098.4 YRDC 100.00 1 NM_024640.4 -
Familial Thoracic Aortic Aneurysm (genepanel) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABL1 100.00 0 ACTA2 100.00 0 ARIH1 100.00 0 ASPH 100.00 0 BGN 100.00 0 COL3A1 100.00 0 EFEMP2 100.00 0 ELN 100.00 0 EMILIN1 100.00 0 FBN1 100.00 1 FBN2 100.00 0 FKBP14 100.00 0 FLNA 100.00 0 FOXE3 100.00 0 HCN4 100.00 0 IPO8 100.00 0 JAG1 100.00 0 LMOD1 100.00 0 LOX 100.00 0 LTBP3 100.00 0 MAT2A 100.00 0 MFAP5 100.00 0 MYH11 100.00 0 MYLK 100.00 0 NOTCH1 100.00 0 NPR3 100.00 0 PLOD1 100.00 0 PMEPA1 100.00 0 PRKG1 100.00 0 ROBO4 100.00 0 SKI 100.00 0 SLC2A10 100.00 0 SMAD2 100.00 0 SMAD3 100.00 0 SMAD4 100.00 0 SMAD6 100.00 0 TBX20 100.00 0 TGFB2 100.00 0 TGFB3 100.00 0 TGFBR1 100.00 0 TGFBR2 100.00 1 THSD4 100.00 0 -
Hepatology panel - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCB11 99.86 1 ABCB4 99.71 1 ABCC2 99.94 1 ABCD3 92.70 1 ABCG5 99.96 1 ABCG8 99.95 1 ACADM 96.14 1 ACADVL 100.00 1 ACAT1 99.81 1 ACOX2 99.81 1 ADK 99.78 1 AGL 97.67 1 AGPAT2 100.00 1 AKR1D1 99.91 1 ALAD 99.99 1 ALDOA 100.00 1 ALDOB 100.00 1 ALG8 95.49 1 ALG9 99.73 1 ALMS1 99.90 1 AMACR 100.00 1 ANKS6 100.00 1 AP1S1 99.49 1 ARG1 99.95 1 ASL 99.98 1 ASS1 77.52 1 ATP7B 100.00 1 ATP8B1 99.94 1 BAAT 99.98 1 BCS1L 99.99 1 BSCL2 99.99 1 BTD 100.00 1 CAVIN1 100.00 1 CC2D2A 99.95 1 CCDC115 99.90 1 CFTR 99.45 1 CLDN1 99.99 1 COG6 99.86 1 COG7 99.74 1 CYP21A2 99.91 1 CPT1A 99.98 1 CPT2 99.65 1 CREB3L3 99.98 1 CYP27A1 100.00 1 CYP7A1 99.99 1 CYP7B1 99.82 1 DCDC2 99.96 1 DGUOK 99.93 1 DHCR7 99.97 1 DKC1 99.59 1 DLD 99.89 1 DNAJB11 99.97 1 EHHADH 99.99 1 EIF2AK3 97.43 1 ENO3 100.00 1 EPHX1 99.97 1 EPM2A 99.99 1 ETFA 99.88 1 ETFB 100.00 1 FANCA 99.98 1 FARSA 100.00 1 FARSB 99.64 1 FBP1 100.00 1 FTH1 22.62 1 G6PC1 99.93 1 GAA 100.00 1 GALE 99.90 1 GALK1 100.00 1 GALM 100.00 1 GALT 100.00 1 GANAB 99.97 1 GBA1 96.92 1 GBE1 99.73 1 GFM1 99.95 1 GNAS 100.00 1 GUSB 95.07 1 GYS1 99.98 1 GYS2 99.86 1 HADHA 99.98 1 HAMP 99.99 1 HFE 100.00 1 HJV 99.99 1 HLCS 99.97 1 HNF1B 100.00 1 HSD17B4 99.71 1 HSD3B7 100.00 1 IARS1 99.89 1 IFT140 100.00 1 INVS 99.94 1 IVD 100.00 1 JAG1 100.00 1 KIF12 99.99 1 KRT18 47.42 1 KRT8 71.60 1 LAMP2 98.95 1 LARS1 99.87 1 LDHA 99.94 1 LIPA 99.96 1 LRP5 99.95 1 LSR 99.98 1 MARS1 99.97 1 MCEE 99.90 1 MKS1 99.92 1 MMUT 99.68 1 MPI 99.95 1 MPV17 99.98 1 MVK 99.97 1 MYO5B 100.00 1 NBAS 99.86 1 NEK9 99.99 1 NEU1 99.98 1 NGLY1 99.93 1 NHLRC1 100.00 1 NOTCH2 99.03 1 NPC1 99.99 1 NPC2 100.00 1 NPHP1 99.05 1 NPHP3 99.89 1 NPHP4 99.98 1 NR1H4 99.49 1 OXCT1 99.82 1 PODXL 99.99 1 PCCA 99.90 1 PCCB 99.97 1 PEX1 98.80 1 PEX10 100.00 1 PEX11B 99.62 1 PEX12 100.00 1 PEX13 99.36 1 PEX14 100.00 1 PEX16 99.94 1 PEX19 99.25 1 PEX2 100.00 1 PEX26 100.00 1 PEX3 99.85 1 PEX5 99.89 1 PEX6 99.99 1 PEX7 99.72 1 PFKM 99.57 1 PGAM2 100.00 1 PGK1 99.93 1 PGM1 96.77 1 PHKA1 99.84 1 PHKA2 99.92 1 PHKB 99.69 1 PHKG2 99.86 1 PKD1 99.98 1 PKD2 99.91 1 PKHD1 99.95 1 PMM2 99.93 1 PNPLA3 100.00 1 POLG 100.00 1 PPM1F 100.00 1 PRKAG2 99.96 1 PRKCSH 99.99 1 PYGL 99.99 1 PYGM 99.96 1 RBCK1 100.00 1 RINT1 99.99 1 RPGRIP1L 96.35 1 SBDS 99.93 1 SCO1 99.98 1 SEC63 99.84 1 SERPINA1 100.00 1 SLC10A1 99.99 1 SLC10A2 99.99 1 SLC16A1 99.26 1 SLC25A13 99.67 1 SLC25A20 100.00 1 SLC2A2 99.96 1 SLC30A10 99.99 1 SLC51A 100.00 1 SLCO1B1 98.69 1 SLCO1B3 99.85 1 SMPD1 100.00 1 PMP22 99.99 1 STN1 99.88 1 STT3B 99.96 1 TALDO1 100.00 1 TANGO2 99.85 1 TFR2 99.97 1 TJP2 99.99 1 TMEM216 99.98 1 TMEM67 99.69 1 TRMU 100.00 1 SKIC3 99.82 1 TWNK 100.00 1 UGT1A1 99.98 1 UNC45A 100.00 1 UROS 100.00 1 USP53 99.92 1 UTP4 99.91 1 VIPAS39 99.87 1 VPS33B 99.95 1 VPS50 98.35 1 WDR83OS 100.00 1 YARS1 99.29 1 ZFYVE19 99.99 1 -
Heterotaxie PCD - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACTC1 98.57 0 ACVR2B 99.99 0 AK7 99.93 0 ALMS1 99.90 0 ANKS6 100.00 0 BBS1 100.00 0 BBS10 99.98 0 BBS2 99.90 0 BCL9L 99.99 0 BCOR 99.97 0 BRAF 99.78 0 C1orf127 99.98 0 CBL 99.95 0 CCDC103 99.68 0 CCDC39 99.74 0 CCDC40 100.00 0 CCDC65 99.80 0 CCNO 100.00 0 CENPF 99.97 0 CEP164 99.99 0 CEP290 98.10 0 CFAP298 99.96 0 CFAP300 99.47 0 CFAP45 99.97 0 CFAP52 99.92 0 CFAP53 99.95 0 CFAP58 99.96 0 CFC1 21.93 0 CFTR 99.45 0 CHD7 99.99 0 CITED2 100.00 0 CRELD1 99.99 0 DAW1 99.90 0 DGAT2L6 99.97 0 DNAAF1 99.99 0 DNAAF11 99.80 0 DNAAF2 99.91 0 DNAAF3 99.99 0 DNAAF4 99.78 0 DNAAF5 99.99 0 DNAAF6 98.73 0 DNAH1 99.98 0 DNAH11 99.93 0 DNAH12 99.36 0 DNAH14 99.64 0 DNAH17 99.98 0 DNAH5 99.98 0 DNAH8 99.84 0 DNAH9 99.79 0 DNAI1 99.92 0 DNAI2 99.86 0 DNAJB13 99.91 0 DRC1 99.93 0 DYNC1H1 99.99 0 DYNLT2 99.95 0 ELN 99.86 0 EVC 99.95 0 EVC2 99.97 0 FOXF1 99.99 0 FOXH1 100.00 0 FOXJ1 100.00 0 GAS2L2 100.00 0 GAS8 100.00 0 GATA4 99.99 0 GATA6 99.90 0 GDF1 100.00 0 GJA1 100.00 0 GPC3 99.60 0 HAND1 99.99 0 HES7 100.00 0 HYDIN 81.28 0 IFT46 99.58 0 INVS 99.94 0 JAG1 100.00 0 KIF7 100.00 0 LEFTY1 99.98 0 LEFTY2 100.00 0 LMBRD1 99.67 0 CIROP 91.91 0 LMNA 99.96 0 LRRC56 99.98 0 LZTFL1 100.00 0 MAP2K1 99.98 0 MAP2K2 99.99 0 MCIDAS 100.00 0 MED13L 99.99 0 MEGF8 99.90 0 MEIS2 99.97 0 MKS1 99.92 0 MMP21 99.99 0 MNS1 99.86 0 MRE11 99.93 0 MYH6 100.00 0 NAT10 99.97 0 NEK10 96.92 0 NEK9 99.99 0 NKX2-5 99.75 0 NKX2-6 100.00 0 NME5 99.81 0 NME8 99.83 0 NODAL 99.98 0 NOTCH1 99.98 0 NOTCH2 99.03 0 NPHP3 99.89 0 NR2F2 100.00 0 NSD1 99.98 0 ODAD1 96.04 0 ODAD2 98.19 0 ODAD3 99.96 0 ODAD4 99.85 0 OFD1 99.68 0 PITRM1 99.89 0 PKD1L1 99.84 0 PKD2 99.91 0 PQBP1 99.99 0 PRRX1 99.56 0 PTPN11 99.98 0 RAF1 99.97 0 RIT1 99.78 0 RPGR 94.45 0 RSPH1 99.87 0 RSPH3 99.94 0 RSPH4A 99.95 0 RSPH9 99.99 0 SERPINE2 99.97 0 SHOC2 99.96 0 SHROOM3 99.99 0 SMAD2 99.92 0 SMAD6 100.00 0 SOS1 99.68 0 SPAG1 99.78 0 SPEF2 99.93 0 STK36 99.98 0 TBX1 99.95 0 TBX5 99.98 0 TCTN2 99.99 0 TP73 100.00 0 TTC12 99.97 0 TTC8 99.67 0 UBR1 99.93 0 WDR35 99.92 0 WDR47 95.08 0 ZFPM2 100.00 0 ZIC3 99.90 0 ZMPSTE24 98.70 0 ZMYND10 99.99 0 ZNF423 98.94 0 -
Hypogonadotropic Hypogonadism/Kallmann (61 genes) - ULG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments LEPR 98.65 0 NM_002303 KISS1 99.66 0 NM_002256 RD3 99.63 0 NM_183059 HS6ST1 92.39 0 NM_004807 CXCR4 99.63 0 NM_003467 CCDC141 97.45 0 NM_173648 NRP2 99.58 0 NM_201266 IL17RD 94.68 0 NM_017563 HESX1 98.36 0 NM_003865 PROK2 90.75 0 NM_001126128 GAP43 97.81 0 NM_001130064 PLXNA1 99.67 0 NM_032242 SOX2 95.94 0 NM_003106 KLB 99.62 0 NM_175737 GNRHR 99.45 0 NM_000406 TACR3 99.41 0 NM_001059 OTUD4 98.02 0 NM_001102653 PCSK1 99.63 0 NM_000439 SOX9 99.60 0 NM_001035235 SPRY4 99.69 0 NM_030964 PROP1 99.69 0 NM_006261 GLI3 99.55 0 NM_000168 SEMA3E 99.45 0 NM_012431 SEMA3A 99.53 0 NM_006080 FEZF1 99.43 0 NM_001024613 LEP 99.69 0 NM_000230 FGF17 99.67 0 NM_003867 GNRH1 99.54 0 NM_000825 FGFR1 99.69 0 NM_023110 CHD7 99.53 0 NM_017780 TRAPPC9 99.57 0 NM_031466 PALM2 98.64 0 NM_001037293 NOTCH1 96.74 0 NM_017617 NSMF 93.42 0 NM_015537 MASTL 99.20 0 NM_032844 FGF8 78.88 0 NM_033163 WDR11 99.33 0 NM_018117 CCKBR 99.61 0 NM_176875 FSHB 99.64 0 NM_000510 PLEKHA5 98.89 0 NM_001143821 PDE3A 99.05 0 NM_000921 TSPAN11 99.69 0 NM_001080509 AMN1 99.52 0 NM_001113402 TAC3 99.64 0 NM_013251 DUSP6 99.68 0 NM_001946 POLR3B 99.29 0 NM_018082 CRY1 99.26 0 NM_004075 NOS1 99.42 0 NM_000620 SEMA7A 92.63 0 NM_003612 DCC 99.55 0 NM_005215 KISS1R 85.01 0 NM_032551 AXL 99.69 0 NM_021913 LHB 99.69 0 NM_000894 PROKR2 99.69 0 NM_144773 JAG1 97.49 0 NM_000214 FLRT3 99.67 0 NM_198391 SOX10 93.26 0 NM_006941 ANOS1 93.11 0 NM_000216 NR0B1 99.34 0 NM_000475 FGF13 99.32 0 NM_004114 SOX3 83.29 0 NM_005634 -
Intellectual disability & Epilepsy - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AAAS 99.88 1 AARS1 99.99 1 AASS 99.61 1 ABAT 99.98 1 ABCA2 100.00 1 ABCC8 99.98 1 ABCC9 99.92 1 ABCD1 99.98 1 ABCD4 100.00 1 ABHD16A 100.00 1 ABHD5 99.98 1 ACAD9 100.00 1 ACADM 96.14 1 ACADS 99.99 1 ACADSB 99.93 1 ACAT1 99.81 1 ACO2 99.99 1 ACOX1 99.98 1 ACSF3 99.99 1 ACSL4 99.59 1 ACTB 100.00 1 ACTG1 100.00 1 ACTL6A 99.74 1 ACTL6B 99.90 1 ACVR1 99.94 1 ACY1 100.00 1 ADAM22 99.15 1 ADAR 99.84 1 ADARB1 94.29 1 ADAT3 100.00 1 ADD3 99.95 1 ADGRG1 99.90 1 ADGRL1 99.98 1 ADGRL2 98.18 1 ADK 99.78 1 ADNP 100.00 1 ADPRS 99.94 1 ADSL 99.93 1 AFF2 99.89 1 AFF3 99.63 1 AFF4 99.94 1 AFG3L2 99.97 1 AGA 99.92 1 AGO1 99.73 1 AGO2 99.97 1 AGPAT2 100.00 1 AGTPBP1 99.68 1 AHCY 100.00 1 AHDC1 100.00 1 AHI1 99.86 1 AIFM1 99.92 1 AIMP1 99.97 1 AIMP2 99.99 1 AK1 100.00 1 AKT3 99.81 1 ALDH18A1 99.96 1 ALDH3A2 99.95 1 ALDH4A1 98.97 1 ALDH5A1 96.19 1 ALDH7A1 99.49 1 ALG1 86.66 1 ALG11 99.99 1 ALG12 100.00 1 ALG13 99.44 1 ALG14 99.34 1 ALG2 100.00 1 ALG3 99.96 1 ALG6 93.37 1 ALG8 95.49 1 ALG9 99.73 1 ALKBH8 99.98 1 ALMS1 99.90 1 ALPL 99.88 1 ALX1 97.99 1 ALX4 100.00 1 AMACR 100.00 1 AMER1 100.00 1 AMMECR1 99.87 1 AMPD2 99.91 1 AMT 100.00 1 ANK2 99.98 1 ANK3 99.79 1 ANKLE2 99.99 1 ANKRD11 99.85 1 ANKRD17 99.92 1 ANO10 99.93 1 ANTXR1 99.83 1 AP1G1 99.95 1 AP1S1 99.49 1 AP1S2 99.56 1 AP2M1 99.69 1 AP3B1 99.89 1 AP3B2 100.00 1 AP3D1 100.00 1 AP4B1 96.92 1 AP4E1 99.94 1 AP4M1 99.98 1 AP4S1 87.89 1 AP5Z1 100.00 1 APC2 99.98 1 APTX 99.92 1 ARCN1 99.92 1 ARF1 99.99 1 ARFGEF1 99.86 1 ARFGEF2 99.99 1 ARG1 99.95 1 ARHGAP31 100.00 1 ARHGEF9 99.89 1 ARID1A 99.83 1 ARID1B 99.69 1 ARID2 99.48 1 ARL13B 99.53 1 ARL6 99.90 1 ARMC9 99.77 1 ARSA 99.99 1 ARSL 99.93 1 ARV1 99.85 1 ARX 95.36 1 ASAH1 99.90 1 ASH1L 99.79 1 ASL 99.98 1 ASNS 99.63 1 ASPA 99.98 1 ASPM 99.57 1 ASS1 77.52 1 ASXL1 100.00 1 ASXL2 99.82 1 ASXL3 99.99 1 ATAD1 99.85 1 ATAD3A 99.62 1 ATCAY 100.00 1 ATG7 99.90 1 ATIC 99.86 1 ATL1 99.95 1 ATM 99.83 1 ATN1 99.90 1 ATP13A2 99.96 1 ATP1A1 98.41 1 ATP1A2 99.85 1 ATP1A3 99.98 1 ATP2A2 99.98 1 ATP2B1 99.39 1 ATP6AP2 99.55 1 ATP6V0A1 99.85 1 ATP6V0A2 99.92 1 ATP6V1A 99.73 1 ATP6V1B2 99.99 1 ATP7A 99.87 1 ATP8A2 100.00 1 ATP9A 99.99 1 ATPAF2 99.96 1 ATRX 99.44 1 ATXN2 99.88 1 AUH 99.95 1 AUTS2 99.87 1 AVPR2 100.00 1 B3GALNT2 92.79 1 B3GALT6 100.00 1 B3GLCT 99.90 1 B4GALNT1 99.97 1 B4GALT1 99.97 1 B4GALT7 99.99 1 B4GAT1 100.00 1 B9D1 99.80 1 B9D2 99.88 1 BAZ2B 99.63 1 BBS1 100.00 1 BBS10 99.98 1 BBS12 100.00 1 BBS2 99.90 1 BBS4 99.88 1 BBS5 99.00 1 BBS7 99.42 1 BBS9 99.75 1 BCAP31 99.95 1 BCAS3 99.31 1 BCKDHA 99.97 1 BCKDHB 99.73 1 BCKDK 99.99 1 BCL11A 99.93 1 BCL11B 100.00 1 BCOR 99.97 1 BCORL1 99.99 1 BCS1L 99.99 1 BICD2 99.99 1 BICRA 99.99 1 BLM 99.80 1 BLOC1S1 99.95 1 BMP4 100.00 1 BOLA3 99.22 1 BPTF 99.84 1 BRAF 99.78 1 BRAT1 100.00 1 BRD4 99.98 1 BRF1 100.00 1 BRPF1 100.00 1 BRSK2 99.98 1 BRWD3 99.40 1 BSCL2 99.99 1 BTD 100.00 1 BUB1B 100.00 1 C12ORF4 99.93 1 C12ORF57 100.00 1 C2CD3 99.88 1 CA2 99.62 1 CA5A 99.99 1 CA8 99.71 1 CACNA1A 98.16 1 CACNA1B 100.00 1 CACNA1C 100.00 1 CACNA1D 99.98 1 CACNA1E 99.82 1 CACNA1G 99.95 1 CACNA1H 100.00 1 CACNA1I 99.98 1 CACNA2D1 97.12 1 CACNA2D2 99.99 1 CACNB4 99.20 1 CACNG2 99.99 1 CAD 99.86 1 CAMK2A 99.99 1 CAMK2B 99.92 1 CAMK2G 99.95 1 CAMK4 99.78 1 CAMTA1 99.97 1 CAPN10 99.99 1 CAPN15 99.98 1 CARS1 99.99 1 CARS2 99.99 1 CASK 98.95 1 CBL 99.95 1 CBS 17.79 1 CC2D1A 99.98 1 CC2D2A 99.95 1 CCBE1 99.52 1 CCDC115 99.90 1 CCDC174 99.98 1 CCDC22 99.91 1 CCDC47 99.97 1 CCDC88A 99.48 1 CCDC88C 100.00 1 CCM2 99.93 1 CCND2 100.00 1 CCNK 99.93 1 CDC42 98.05 1 CDC42BPB 99.99 1 CDH11 99.94 1 CDH15 99.98 1 CDH2 99.84 1 CDK10 99.98 1 CDK13 99.83 1 CDK19 99.26 1 CDK5RAP2 99.97 1 CDK6 99.47 1 CDK8 99.81 1 CDKL5 99.88 1 CDKN1C 100.00 1 CDON 99.99 1 CELF2 99.99 1 CELSR3 99.99 1 CENPF 99.97 1 CENPJ 99.92 1 CEP104 99.99 1 CEP120 99.90 1 CEP135 99.82 1 CEP152 99.93 1 CEP290 98.10 1 CEP41 99.99 1 CEP55 99.92 1 CEP57 99.92 1 CEP63 94.73 1 CEP83 98.68 1 CEP85L 100.00 1 CERS1 100.00 1 CERT1 99.66 1 CHAMP1 99.99 1 CHD1 99.46 1 CHD2 99.97 1 CHD3 99.06 1 CHD4 99.99 1 CHD5 99.97 1 CHD7 99.99 1 CHD8 99.96 1 CHKB 100.00 1 CHMP1A 100.00 1 CHRNA2 99.98 1 CHRNA4 100.00 1 CHRNB2 99.99 1 CIC 98.32 1 CILK1 99.69 1 CIT 99.99 1 CKAP2L 99.54 1 CLCN3 99.95 1 CLCN4 99.98 1 CLCNKB 99.98 1 CLDN11 100.00 1 CLDN16 99.98 1 CLDN19 99.02 1 CLIC2 99.82 1 CLN3 99.92 1 CLN5 100.00 1 CLN6 100.00 1 CLN8 100.00 1 CLP1 99.98 1 CLPB 99.97 1 CLTC 99.56 1 CNKSR2 99.54 1 CNNM2 99.94 1 CNOT1 99.83 1 CNOT2 99.00 1 CNOT3 99.99 1 CNPY3 99.98 1 CNTN2 99.95 1 CNTNAP1 99.98 1 CNTNAP2 99.99 1 COA8 99.94 1 COASY 99.98 1 COG1 100.00 1 COG4 99.96 1 COG5 99.92 1 COG6 99.86 1 COG7 99.74 1 COG8 100.00 1 COL18A1 99.99 1 COL4A1 99.99 1 COL4A2 99.98 1 COLEC11 100.00 1 COPB1 99.87 1 COPB2 99.83 1 COQ2 99.90 1 COQ4 100.00 1 COQ5 99.95 1 COQ8A 100.00 1 COQ9 99.62 1 COX10 99.99 1 COX15 100.00 1 COX6B1 100.00 1 CYP2A6 99.99 1 CPE 99.93 1 CPLANE1 99.81 1 CPLX1 100.00 1 CYP21A2 99.91 1 CPSF3 99.93 1 CPT2 99.65 1 CRADD 99.90 1 CRB2 99.95 1 CRBN 99.97 1 CREBBP 99.97 1 CRH 100.00 1 CRLF1 99.99 1 CRPPA 99.98 1 CSDE1 97.17 1 CSNK1G1 99.95 1 CSNK2A1 99.96 1 CSNK2B 99.65 1 CSPP1 98.31 1 CSTB 100.00 1 CTBP1 99.98 1 CTC1 100.00 1 CTCF 99.87 1 CTDP1 99.97 1 CTNNA2 99.84 1 CTNNB1 99.95 1 CTNND1 99.92 1 CTNND2 99.97 1 CTSA 99.98 1 CTSD 100.00 1 CTSF 99.96 1 CTU2 99.91 1 CUBN 99.99 1 CUL3 99.76 1 CUL4B 99.67 1 CUX1 99.37 1 CUX2 99.96 1 CWC27 99.67 1 CWF19L1 99.91 1 CYB5R3 99.93 1 CYC1 99.86 1 CYFIP2 100.00 1 CYP27A1 100.00 1 CYP2U1 99.99 1 D2HGDH 100.00 1 DAG1 100.00 1 DARS1 98.85 1 DARS2 98.31 1 DBT 94.51 1 DCAF17 99.84 1 DCC 99.96 1 DCHS1 100.00 1 DCPS 99.98 1 DCX 99.99 1 DDB1 99.96 1 DDC 99.67 1 DDHD2 99.97 1 DDX11 99.74 1 DDX23 99.94 1 DDX3X 99.01 1 DDX59 99.67 1 DDX6 99.88 1 DEAF1 99.90 1 DEGS1 99.99 1 DENND5A 99.99 1 DEPDC5 99.18 1 DHCR24 99.93 1 DHCR7 99.97 1 DHDDS 98.65 1 DHFR 98.89 1 DHPS 93.17 1 DHTKD1 99.95 1 DHX16 99.98 1 DHX30 99.96 1 DHX37 99.98 1 DIAPH1 99.95 1 DIS3L2 99.90 1 DKC1 99.59 1 DLAT 99.65 1 DLD 99.89 1 DLG3 99.96 1 DLG4 99.99 1 DLL1 99.99 1 DMD 99.76 1 DMPK 99.93 1 DMXL2 99.86 1 DNAJC12 99.72 1 DNAJC19 99.76 1 DNAJC5 99.99 1 DNM1 92.28 1 DNM1L 99.40 1 DNMT3A 100.00 1 DNMT3B 99.98 1 DOCK3 99.96 1 DOCK6 100.00 1 DOCK7 94.41 1 DOCK8 99.86 1 DOLK 100.00 1 DONSON 99.99 1 DPAGT1 100.00 1 DPF2 99.99 1 DPH1 100.00 1 DPM1 90.68 1 DPM2 100.00 1 DPP6 99.99 1 DPYD 94.53 1 DPYS 99.99 1 DPYSL5 99.93 1 DSCAM 99.99 1 DYM 99.96 1 DYNC1H1 99.99 1 DYNC1I2 98.97 1 DYRK1A 99.98 1 EARS2 99.96 1 EBF3 99.99 1 GLB1 100.00 1 ECHS1 100.00 1 EDC3 99.97 1 EDEM3 98.38 1 EED 93.81 1 EEF1A2 100.00 1 EFNB2 99.92 1 EFTUD2 99.93 1 EHMT1 98.38 1 EIF2AK2 99.70 1 EIF2AK3 97.43 1 EIF2B1 99.98 1 EIF2B2 99.90 1 EIF2B3 97.26 1 EIF2B4 99.96 1 EIF2B5 99.98 1 EIF2S3 99.34 1 EIF3F 99.96 1 EIF4A3 99.99 1 EIF5A 100.00 1 ELAC2 99.90 1 ELOVL4 99.91 1 ELP2 99.82 1 EMC1 99.85 1 EMC10 99.96 1 EML1 99.99 1 EMX2 100.00 1 ENTPD1 99.98 1 EP300 99.97 1 EPB41L1 100.00 1 EPG5 99.95 1 EPHA7 99.97 1 EPM2A 99.99 1 EPRS1 99.53 1 ERBB4 99.92 1 ERCC1 99.96 1 ERCC2 99.99 1 ERCC3 99.90 1 ERCC5 99.99 1 ERCC6 99.60 1 ERCC6L2 99.94 1 ERCC8 99.79 1 ERLIN2 99.94 1 ESCO2 99.92 1 ETFA 99.95 1 ETFB 100.00 1 ETFDH 99.82 1 ETHE1 84.97 1 EXOC2 99.97 1 EXOC7 100.00 1 EXOSC2 100.00 1 EXOSC3 100.00 1 EXOSC8 99.91 1 EXOSC9 94.91 1 EXT2 99.98 1 EXTL3 99.99 1 EZH2 99.89 1 FA2H 99.98 1 FAM111A 100.00 1 HYCC1 99.81 1 FAM149B1 99.69 1 FAM20C 100.00 1 FAM50A 99.99 1 FANCD2 99.86 1 FAR1 99.82 1 FARS2 100.00 1 FARSA 100.00 1 FARSB 99.64 1 FAT4 99.98 1 FBRSL1 95.66 1 FBXL3 99.48 1 FBXL4 100.00 1 FBXO11 99.53 1 FBXO28 99.67 1 FBXO31 99.99 1 FBXW11 99.96 1 FBXW7 99.90 1 FDFT1 99.99 1 FGD1 99.96 1 FGF12 99.94 1 FGF13 99.76 1 FGF14 99.99 1 FGFR1 100.00 1 FGFR2 99.99 1 FGFR3 100.00 1 FH 99.95 1 FIBP 99.83 1 FIG4 99.83 1 FKRP 100.00 1 FKTN 99.94 1 FLNA 99.99 1 FLVCR1 99.91 1 FLVCR2 100.00 1 FMN2 99.99 1 FMR1 99.56 1 FOLR1 100.00 1 FOXG1 99.91 1 FOXP1 99.98 1 FOXP2 99.98 1 FOXRED1 100.00 1 FRAS1 99.97 1 FREM2 99.97 1 FRMD4A 100.00 1 FRMPD4 99.92 1 FRRS1L 99.91 1 FTCD 99.99 1 FTO 99.66 1 FTSJ1 99.95 1 FUCA1 98.72 1 FUT8 99.98 1 FXYD2 100.00 1 FZR1 99.99 1 GABBR2 99.96 1 GABRA1 100.00 1 GABRA2 99.90 1 GABRA3 99.96 1 GABRA5 99.96 1 GABRB1 99.97 1 GABRB2 99.92 1 GABRB3 99.66 1 GABRD 99.99 1 GABRG2 91.88 1 GAD1 99.92 1 GAL 99.90 1 GALC 99.92 1 GALE 99.90 1 GALNT2 99.44 1 GALT 100.00 1 GAMT 100.00 1 GATAD2B 99.44 1 GATM 99.92 1 GBA1 96.92 1 GCDH 100.00 1 GCH1 99.94 1 GCK 99.99 1 GCSH 98.75 1 GDI1 99.99 1 GEMIN4 100.00 1 GEMIN5 99.96 1 GFAP 99.99 1 GFER 100.00 1 GFM1 99.95 1 GFM2 99.87 1 GJA1 100.00 1 GJB1 100.00 1 GJC2 100.00 1 GK 99.27 1 GLDC 99.99 1 GLI2 99.93 1 GLI3 100.00 1 GLIS3 99.99 1 GLRA1 100.00 1 GLRB 99.79 1 GLS 99.78 1 GLUD1 99.80 1 GLUL 99.88 1 GLYCTK 100.00 1 GM2A 100.00 1 GMNN 99.73 1 GMPPA 99.97 1 GMPPB 100.00 1 GNAI1 99.70 1 GNAO1 99.86 1 GNAQ 99.94 1 GNAS 100.00 1 GNB1 100.00 1 GNB2 99.99 1 GNB5 99.98 1 GNPAT 99.78 1 GNPTAB 99.76 1 GNPTG 100.00 1 GNS 99.59 1 GOSR2 98.92 1 GOT2 99.78 1 GPAA1 100.00 1 GPC3 99.60 1 GPC4 99.89 1 GPHN 99.94 1 GPT2 99.97 1 GRIA2 99.99 1 GRIA3 99.93 1 GRIA4 99.93 1 GRID2 99.97 1 GRIK2 99.90 1 GRIN1 100.00 1 GRIN2A 100.00 1 GRIN2B 99.99 1 GRIN2D 99.97 1 GRIP1 99.83 1 GRM1 100.00 1 GRM7 99.99 1 GRN 100.00 1 GSS 99.99 1 GTF2E2 100.00 1 GTF2H5 100.00 1 GTPBP2 99.98 1 GTPBP3 99.99 1 GUSB 95.07 1 H1-4 100.00 1 H3-3A 35.67 1 H3-3B 100.00 1 H4C11 99.08 1 H4C3 99.99 1 H4C5 100.00 1 H4C9 100.00 1 HACE1 99.76 1 HADH 99.86 1 HADHA 99.98 1 HAX1 100.00 1 HCCS 99.90 1 HCFC1 99.99 1 HCN1 99.99 1 HCN2 97.35 1 HDAC4 99.98 1 HDAC6 99.96 1 HDAC8 99.74 1 HECW2 99.91 1 HEPACAM 100.00 1 HERC1 99.92 1 HERC2 95.66 1 HESX1 99.77 1 HEXA 99.99 1 HEXB 99.91 1 HGSNAT 99.93 1 HIBCH 99.70 1 HID1 99.99 1 HIVEP2 99.99 1 HK1 99.97 1 HLCS 99.97 1 HMGB1 54.18 1 HMGCL 99.31 1 HNMT 99.53 1 HNRNPH1 99.98 1 HNRNPH2 99.96 1 HNRNPK 99.93 1 HNRNPR 98.05 1 HNRNPU 99.95 1 HOXA1 100.00 1 HPD 99.99 1 HPDL 99.99 1 HPRT1 97.80 1 HRAS 100.00 1 HS2ST1 95.79 1 HSD17B10 99.98 1 HSD17B4 99.71 1 HSPA9 99.96 1 HSPD1 83.42 1 HTRA2 99.99 1 HUWE1 99.88 1 IARS1 99.89 1 IARS2 99.77 1 IBA57 100.00 1 IDH2 100.00 1 IDS 99.82 1 IDUA 99.99 1 IER3IP1 99.92 1 IFIH1 99.84 1 IFT172 99.98 1 IFT27 100.00 1 IGF1 100.00 1 IGF1R 100.00 1 IKBKG 57.34 1 IL1RAPL1 99.77 1 IMPA1 99.95 1 IMPDH2 100.00 1 INPP5E 99.85 1 INPP5K 99.94 1 INTS1 100.00 1 INTS8 99.89 1 IQSEC1 99.99 1 IQSEC2 99.97 1 IREB2 99.90 1 IRF2BPL 99.21 1 IRX5 100.00 1 ISCA2 100.00 1 ITGA7 99.87 1 ITPA 99.99 1 ITPR1 99.98 1 IVD 100.00 1 JAG1 100.00 1 JAM2 91.82 1 JAM3 100.00 1 JARID2 99.97 1 KANK1 99.99 1 KANSL1 99.85 1 KARS1 99.98 1 KAT5 100.00 1 KAT6A 99.93 1 KAT6B 99.79 1 KAT8 99.98 1 KATNAL2 99.98 1 KATNB1 99.99 1 KATNIP 99.13 1 KCNA1 100.00 1 KCNA2 99.99 1 KCNA4 100.00 1 KCNB1 100.00 1 KCNC1 100.00 1 KCNC2 99.88 1 KCNC3 99.98 1 KCND2 99.90 1 KCND3 99.98 1 KCNH1 99.92 1 KCNJ10 99.98 1 KCNJ11 100.00 1 KCNJ6 100.00 1 KCNK4 99.99 1 KCNK9 100.00 1 KCNMA1 99.89 1 KCNN2 91.25 1 KCNN3 99.97 1 KCNQ2 100.00 1 KCNQ3 99.98 1 KCNQ5 99.89 1 KCNT1 99.98 1 KCNT2 98.77 1 KCTD3 99.75 1 KCTD7 99.98 1 KDM1A 89.42 1 KDM3B 99.98 1 KDM4B 99.99 1 KDM5B 97.15 1 KDM5C 99.98 1 KDM6A 99.74 1 KDM6B 99.99 1 KIAA0586 95.75 1 BLTP1 99.79 1 KIDINS220 99.94 1 KIF11 99.84 1 KIF14 97.80 1 KIF1A 99.96 1 KIF21B 99.83 1 KIF2A 99.79 1 KIF4A 99.76 1 KIF5A 99.91 1 KIF5C 99.93 1 KIF7 100.00 1 KIFBP 99.91 1 KLF7 99.99 1 KLHL15 100.00 1 KLHL7 99.95 1 KMT2A 99.97 1 KMT2B 99.99 1 KMT2C 98.98 1 KMT2D 99.98 1 KMT2E 99.92 1 KMT5B 99.91 1 KNL1 98.43 1 KPTN 99.98 1 KRAS 99.13 1 KRIT1 99.33 1 L1CAM 99.98 1 L2HGDH 99.92 1 LAMA1 99.98 1 LAMA2 99.95 1 LAMB1 99.87 1 LAMC3 99.97 1 LAMP2 98.95 1 LARGE1 100.00 1 LARP7 99.63 1 LARS1 99.87 1 LAS1L 99.97 1 LGI1 99.99 1 LGI4 99.98 1 LIAS 99.98 1 LIG4 100.00 1 LINGO1 100.00 1 LINS1 99.96 1 LIPT1 99.89 1 LMAN2L 99.91 1 LMBRD2 99.66 1 LMNB1 99.73 1 LMNB2 99.99 1 LONP1 99.99 1 LRP2 99.86 1 LRPPRC 99.80 1 LSS 99.98 1 LYRM7 99.98 1 LYST 99.87 1 LZTFL1 100.00 1 LZTR1 99.46 1 MAB21L1 100.00 1 MAB21L2 100.00 1 MACF1 99.33 1 MAF 99.73 1 MAGEL2 99.99 1 MAGT1 99.54 1 MAN1B1 99.94 1 MAN2B1 99.99 1 MANBA 99.81 1 MAOA 99.83 1 MAP1B 100.00 1 MAP2K1 99.98 1 MAP2K2 99.99 1 MAPK1 99.84 1 MAPK8IP3 100.00 1 MAPKAPK5 99.95 1 MAPRE2 99.96 1 MASP1 99.99 1 MAST1 100.00 1 MAT1A 99.70 1 MBD5 99.79 1 MBOAT7 100.00 1 MBTPS2 99.81 1 MCCC1 99.86 1 MCCC2 99.97 1 MCM3AP 99.98 1 MCOLN1 100.00 1 MCPH1 100.00 1 MDH2 99.54 1 MECP2 99.95 1 MECR 99.63 1 MED12 99.94 1 MED12L 99.95 1 MED13 99.55 1 MED13L 99.99 1 MED17 99.82 1 MED23 99.82 1 MED25 99.95 1 MED27 99.99 1 MEF2C 99.57 1 MEGF8 99.90 1 MEIS2 99.97 1 METTL23 100.00 1 METTL5 99.75 1 MFF 99.97 1 MFSD2A 99.78 1 MFSD8 99.70 1 MGAT2 100.00 1 MGP 99.95 1 MICAL1 99.99 1 MICU1 99.56 1 MID1 99.90 1 MINPP1 99.73 1 MKKS 100.00 1 MKS1 99.92 1 MLC1 99.99 1 MLYCD 99.95 1 MMAA 99.95 1 MMAB 99.99 1 MMACHC 99.98 1 MMADHC 99.76 1 MMUT 99.68 1 MN1 99.98 1 MOCS1 99.95 1 MOCS2 99.96 1 MOGS 100.00 1 MORC2 100.00 1 MPDU1 99.97 1 MPDZ 99.86 1 MPLKIP 99.99 1 MRAS 99.97 1 MRPL3 99.94 1 MRPS22 99.87 1 MRPS34 100.00 1 MSL3 99.83 1 MSMO1 99.88 1 MTFMT 99.98 1 MTHFR 99.97 1 MTHFS 100.00 1 MTO1 90.25 1 MTOR 99.98 1 MTR 99.95 1 MTRFR 99.87 1 MTRR 99.98 1 MVK 99.97 1 MYCN 100.00 1 MYO5A 99.94 1 MYT1L 99.99 1 NAA10 99.99 1 NAA15 99.71 1 NAA20 99.93 1 NACC1 99.99 1 NAGA 100.00 1 NAGLU 100.00 1 NAGS 99.99 1 NALCN 99.97 1 NANS 100.00 1 NAPB 100.00 1 NARS1 99.94 1 NARS2 99.59 1 NAXD 99.99 1 NAXE 99.99 1 NBEA 99.98 1 NBN 99.93 1 NCAPG2 99.97 1 NCDN 99.99 1 NCKAP1 99.62 1 NCOR1 99.88 1 NDE1 100.00 1 NDP 99.98 1 NDST1 100.00 1 NDUFA1 99.93 1 NDUFA10 99.98 1 NDUFA11 98.22 1 NDUFA12 99.21 1 NDUFA2 99.95 1 NDUFA6 99.96 1 NDUFA8 100.00 1 NDUFAF1 100.00 1 NDUFAF2 99.88 1 NDUFAF3 100.00 1 NDUFAF4 99.95 1 NDUFAF5 99.89 1 NDUFAF8 99.98 1 NDUFB3 99.60 1 NDUFB9 100.00 1 NDUFS1 99.79 1 NDUFS2 99.66 1 NDUFS3 100.00 1 NDUFS4 99.99 1 NDUFS6 100.00 1 NDUFS7 99.99 1 NDUFS8 100.00 1 NDUFV1 99.99 1 NDUFV2 99.98 1 NECAP1 100.00 1 NECTIN1 99.99 1 NEDD4L 99.97 1 NEMF 99.94 1 NEU1 99.98 1 NEUROD2 100.00 1 NEXMIF 99.99 1 NF1 99.88 1 NFASC 99.94 1 NFE2L2 99.97 1 NFIA 97.55 1 NFIB 99.90 1 NFIX 99.99 1 NFU1 99.48 1 NGLY1 99.93 1 NHLRC1 100.00 1 NHS 99.96 1 NIPBL 99.34 1 NKAP 99.10 1 NKX2-1 100.00 1 NLGN3 99.98 1 NLGN4X 99.98 1 NLRP3 100.00 1 NONO 99.94 1 NOVA2 99.95 1 NPC1 99.99 1 NPC2 100.00 1 NPHP1 99.05 1 NPRL2 100.00 1 NPRL3 99.99 1 NR2F1 99.99 1 NR4A2 99.97 1 NRAS 99.66 1 NRROS 100.00 1 NRXN1 99.98 1 NSD1 99.98 1 NSD2 99.87 1 NSDHL 99.87 1 NSUN2 99.96 1 NT5C2 99.96 1 NTNG2 99.98 1 NTRK1 99.86 1 NTRK2 99.90 1 NUBPL 99.62 1 NUDT2 100.00 1 NUP107 97.46 1 NUP188 99.88 1 NUP214 99.98 1 NUP62 100.00 1 NUS1 99.90 1 OAT 90.17 1 OCLN 82.91 1 OCRL 99.89 1 ODC1 99.99 1 OFD1 99.68 1 OGT 99.79 1 OPHN1 99.92 1 SLC25A15 100.00 1 OSGEP 100.00 1 OTC 99.42 1 OTUD5 99.93 1 OTUD6B 99.92 1 OTX2 100.00 1 OXR1 99.96 1 P4HTM 100.00 1 PABPC1 99.84 1 PACS1 99.96 1 PACS2 99.99 1 PAFAH1B1 99.96 1 PAH 99.96 1 PAK1 99.99 1 PAK3 92.53 1 PANK2 99.99 1 PARN 99.75 1 PARP6 99.97 1 PARS2 99.99 1 PAX1 100.00 1 PAX6 99.95 1 PAX8 99.99 1 PBX1 99.88 1 PODXL 99.99 1 PCCA 99.90 1 PCCB 99.97 1 PCDH12 100.00 1 PCDH19 99.98 1 PCDHGC4 100.00 1 PCGF2 99.78 1 PCLO 99.41 1 PCNT 99.97 1 PCYT2 100.00 1 PDCD10 99.94 1 PDE2A 99.95 1 PDE4D 99.89 1 PDE6D 99.94 1 PDGFRB 99.99 1 PDHA1 99.04 1 PDHB 99.94 1 PDHX 100.00 1 PDP1 100.00 1 PDSS1 95.70 1 PDSS2 99.87 1 PEPD 99.98 1 PET100 99.98 1 PEX1 98.80 1 PEX10 100.00 1 PEX11B 99.62 1 PEX12 100.00 1 PEX13 99.36 1 PEX14 100.00 1 PEX16 99.94 1 PEX19 99.25 1 PEX2 100.00 1 PEX26 100.00 1 PEX3 99.85 1 PEX5 99.89 1 PEX6 99.99 1 PEX7 99.72 1 PGAP1 99.56 1 PGAP2 99.99 1 PGAP3 99.97 1 PGK1 99.93 1 PGM2L1 99.82 1 PGM3 99.94 1 PHACTR1 100.00 1 PHF21A 99.91 1 PHF6 99.16 1 PHF8 99.87 1 PHGDH 99.79 1 PHIP 99.63 1 PI4KA 99.76 1 PIBF1 99.90 1 PIDD1 100.00 1 PIGA 99.81 1 PIGB 99.92 1 PIGC 100.00 1 PIGF 98.59 1 PIGG 99.99 1 PIGH 100.00 1 PIGK 92.56 1 PIGL 99.98 1 PIGN 99.91 1 PIGO 99.99 1 PIGP 99.87 1 PIGQ 99.99 1 PIGS 100.00 1 PIGT 99.95 1 PIGU 99.98 1 PIGV 100.00 1 PIGW 99.87 1 PIGY 99.99 1 PIK3C2B 99.79 1 PIK3CA 99.74 1 PIK3R2 99.95 1 PISD 100.00 1 PITRM1 99.89 1 PLA2G6 99.98 1 PLAA 99.79 1 PLCB1 99.98 1 PLCH1 99.99 1 PLK4 99.89 1 PLP1 99.98 1 PLPBP 99.99 1 PLXNA1 100.00 1 PLXND1 99.98 1 PMM2 99.93 1 PMPCA 99.99 1 PMPCB 99.94 1 PNKP 100.00 1 PNP 100.00 1 PNPLA6 99.99 1 PNPO 99.90 1 PNPT1 99.56 1 POC1A 99.98 1 POC1B 100.00 1 POGZ 99.49 1 POLA1 99.57 1 POLG 100.00 1 POLR1C 100.00 1 POLR2A 99.95 1 POLR3A 99.97 1 POLR3B 99.94 1 POMGNT1 99.69 1 POMGNT2 100.00 1 POMK 100.00 1 POMT1 99.96 1 POMT2 99.98 1 PORCN 99.93 1 POU1F1 99.98 1 POU3F3 99.96 1 PPFIBP1 99.11 1 PPIL1 100.00 1 PPM1D 99.81 1 PPP1CB 99.89 1 PPP1R12A 99.08 1 PPP1R15B 99.92 1 PPP1R21 99.92 1 PPP2CA 99.99 1 PPP2R1A 100.00 1 PPP2R5D 99.99 1 PPP3CA 99.84 1 PPT1 97.48 1 PQBP1 99.99 1 PRDM13 99.99 1 PRDM15 99.99 1 PRF1 100.00 1 PRICKLE1 99.87 1 PRICKLE2 99.98 1 PRIMA1 99.98 1 PRKACB 87.33 1 PRKAR1A 100.00 1 PRKAR1B 100.00 1 PRMT7 99.95 1 PRODH 4.29 1 PRPS1 99.95 1 PRR12 100.00 1 PRRT2 99.97 1 PRSS12 99.98 1 PRUNE1 99.85 1 PSAP 99.94 1 PSAT1 99.98 1 PSMD12 99.95 1 PSPH 99.09 1 PTCH1 99.99 1 PTCHD1 99.97 1 PTDSS1 99.95 1 PTEN 99.89 1 PTPN11 99.98 1 PTPN23 100.00 1 PTPN4 98.20 1 PTRH2 99.99 1 PTRHD1 100.00 1 PTS 99.93 1 PUF60 100.00 1 PUM1 98.14 1 PURA 100.00 1 PUS1 100.00 1 PUS3 100.00 1 PUS7 99.89 1 PYCR1 99.99 1 PYCR2 99.95 1 QARS1 100.00 1 QDPR 99.92 1 QRICH1 100.00 1 RAB11B 100.00 1 RAB18 99.76 1 RAB23 99.97 1 RAB27A 99.94 1 RAB39B 99.99 1 RAB3GAP1 99.73 1 RAB3GAP2 99.69 1 RABGAP1 99.99 1 RAC1 99.75 1 NCOA3 100.00 1 RAD21 99.91 1 RAF1 99.97 1 RAI1 98.56 1 RALA 99.69 1 RALGAPA1 99.73 1 RARB 99.99 1 RARS2 99.88 1 RBBP8 99.91 1 RBFOX1 99.95 1 RBM10 99.98 1 RBM28 99.99 1 RBPJ 99.96 1 RCBTB1 99.99 1 RELN 99.98 1 RERE 99.94 1 RFT1 99.79 1 RFX3 99.95 1 RFX4 99.95 1 RFX7 99.99 1 RHEB 99.97 1 RHOBTB2 100.00 1 RIMS2 99.97 1 RIT1 99.78 1 RLIM 99.93 1 RMND1 99.92 1 RNASEH2A 99.95 1 RNASEH2B 99.94 1 RNASEH2C 99.99 1 RNASET2 99.99 1 RNF113A 99.99 1 RNF125 99.98 1 RNF13 99.81 1 RNF220 99.68 1 RNPC3 88.90 1 RNU4ATAC 99.95 1 RNU7-1 33.90 1 ROGDI 99.98 1 RORA 99.97 1 RORB 99.86 1 RPGRIP1L 96.35 1 RPIA 99.84 1 RPL15 84.91 1 RPS19 100.00 1 RPS6KA3 98.93 1 RRAS2 99.94 1 RRM2B 99.97 1 RSPRY1 99.73 1 RSRC1 99.95 1 RTEL1 100.00 1 RTN4IP1 99.98 1 RTTN 99.93 1 RUBCN 100.00 1 RUSC2 99.99 1 RXYLT1 99.48 1 SALL1 100.00 1 SAMD9 99.93 1 SAMHD1 99.98 1 SARS1 98.53 1 SATB1 100.00 1 SATB2 99.96 1 SBDS 99.93 1 SBF1 99.99 1 SC5D 99.97 1 SCAF4 99.91 1 SCAMP5 99.99 1 SCAPER 99.75 1 SCARB2 99.99 1 SCN1A 99.94 1 SCN1B 99.98 1 SCN2A 99.86 1 SCN3A 99.76 1 SCN8A 99.77 1 SCO1 99.98 1 SCO2 100.00 1 SCYL1 100.00 1 SDCCAG8 100.00 1 SDHA 99.98 1 SDHAF1 99.99 1 SEMA3E 99.13 1 SEMA6B 99.98 1 SEPSECS 99.78 1 SERAC1 99.90 1 SERPINI1 99.98 1 SET 78.28 1 SETBP1 100.00 1 SETD1A 99.99 1 SETD1B 99.99 1 SETD2 99.91 1 SETD5 99.99 1 SFXN4 99.97 1 SGPL1 99.95 1 SGSH 100.00 1 SHANK1 99.99 1 SHANK2 99.97 1 SHANK3 98.45 1 SHH 100.00 1 SHMT2 99.92 1 SHOC2 99.96 1 SHROOM4 99.78 1 SIAH1 100.00 1 SIK1 3.83 1 SIL1 99.95 1 SIN3A 99.97 1 SIN3B 99.98 1 SIX3 100.00 1 HHAT 99.98 1 SLC12A2 99.55 1 SLC12A5 99.99 1 SLC12A6 99.98 1 SLC13A5 99.99 1 SLC16A1 99.26 1 SLC16A2 99.97 1 SLC17A5 99.71 1 SLC19A3 99.95 1 SLC1A1 99.98 1 SLC1A2 99.95 1 SLC1A4 99.97 1 SLC25A1 99.93 1 SLC25A12 99.72 1 SLC25A19 99.99 1 SLC25A20 100.00 1 SLC25A22 100.00 1 SLC25A42 99.99 1 SLC2A1 99.93 1 SLC33A1 99.67 1 SLC35A1 99.81 1 SLC35A2 99.97 1 SLC35A3 94.67 1 SLC35C1 100.00 1 SLC39A14 92.87 1 SLC39A8 99.95 1 SLC46A1 100.00 1 SLC4A4 99.97 1 SLC5A6 100.00 1 SLC6A1 99.96 1 SLC6A17 99.79 1 SLC6A19 99.99 1 SLC6A3 99.96 1 SLC6A8 99.99 1 SLC6A9 99.93 1 SLC7A7 99.99 1 SLC9A6 99.42 1 SLC9A7 99.91 1 SMAD4 99.97 1 SMAD6 100.00 1 SMARCA2 99.95 1 SMARCA4 99.99 1 SMARCA5 99.81 1 SMARCB1 99.99 1 SMARCC2 99.73 1 SMARCD1 99.81 1 SMARCE1 99.87 1 SMC1A 99.98 1 SMC3 99.91 1 SMG8 99.92 1 SMG9 99.99 1 SMOC1 100.00 1 SMPD1 100.00 1 SMPD4 99.90 1 SNAP25 99.89 1 SNAP29 99.85 1 SNIP1 99.96 1 SNORD118 100.00 1 SNRPN 99.97 1 SNX14 99.73 1 SNX27 99.59 1 SOBP 99.99 1 SON 99.95 1 SOS1 99.68 1 SOS2 99.39 1 SOX10 100.00 1 SOX11 100.00 1 SOX2 100.00 1 SOX3 100.00 1 SOX4 99.36 1 SOX5 99.96 1 SOX6 99.89 1 SPART 99.98 1 SPAST 99.77 1 AFG2A 99.82 1 SPATA5L1 99.91 1 SPECC1L 99.98 1 SPEN 99.98 1 SPG11 99.89 1 SPOP 99.85 1 SPR 99.99 1 SPRED1 99.99 1 SPTAN1 99.96 1 SPTBN1 99.98 1 SPTBN2 99.98 1 SPTBN4 99.91 1 SRCAP 99.99 1 SRD5A3 99.94 1 SRPX2 99.95 1 SRRM2 99.98 1 SSR4 99.99 1 ST3GAL3 99.98 1 ST3GAL5 99.96 1 STAG1 99.88 1 STAG2 99.08 1 STAMBP 99.95 1 STEEP1 99.89 1 STIL 99.11 1 STRA6 99.95 1 STRADA 99.98 1 STT3A 99.99 1 STT3B 99.96 1 STX1B 99.97 1 STXBP1 99.99 1 SUCLA2 99.96 1 SUCLG1 99.64 1 SUFU 100.00 1 SUMF1 99.95 1 SUOX 100.00 1 SUPT16H 99.97 1 SURF1 100.00 1 SUZ12 98.58 1 SVBP 99.04 1 SYN1 99.98 1 SYNCRIP 99.93 1 SYNE1 99.95 1 SYNGAP1 99.96 1 SYNJ1 99.91 1 SYP 99.99 1 SYT1 99.70 1 SYT14 99.94 1 SZT2 99.88 1 TAF1 99.84 1 TAF13 95.71 1 TAF1C 100.00 1 TAF2 99.72 1 TAF6 99.96 1 TAFAZZIN 99.98 1 TANC2 99.85 1 TANGO2 99.85 1 TAOK1 99.77 1 TASP1 99.86 1 TAT 99.99 1 TBC1D20 100.00 1 TBC1D23 98.70 1 TBC1D24 100.00 1 TBC1D2B 99.94 1 TBC1D7 99.90 1 TBCD 100.00 1 TBCE 99.91 1 TBCK 99.75 1 TBL1XR1 99.92 1 TBP 99.98 1 TBR1 99.99 1 TBX1 99.95 1 TCF20 100.00 1 TCF4 98.56 1 TCF7L2 99.69 1 TCN2 100.00 1 TCTN1 99.92 1 TCTN2 99.99 1 TCTN3 99.92 1 TDP2 99.97 1 TECPR2 99.96 1 TECR 99.99 1 TELO2 99.99 1 TENM3 99.99 1 TET3 99.95 1 TFAP2A 100.00 1 TFE3 99.87 1 TGDS 99.86 1 TGFBR1 99.94 1 TGFBR2 99.98 1 TGIF1 100.00 1 TH 99.99 1 THOC2 99.11 1 THOC6 99.94 1 THRA 100.00 1 THRB 99.82 1 TIAM1 99.99 1 TIMM50 99.99 1 TIMM8A 100.00 1 TINF2 100.00 1 DDR2 97.39 1 TLK2 98.83 1 TMCO1 99.48 1 TMEM106B 99.92 1 TMEM107 100.00 1 TMEM138 100.00 1 TMEM165 99.97 1 TMEM216 99.98 1 TMEM222 99.93 1 TMEM231 88.88 1 TMEM237 99.30 1 TMEM240 99.99 1 TMEM63A 99.91 1 TMEM67 99.69 1 TMEM70 99.99 1 TMEM94 99.96 1 TMLHE 77.23 1 TMTC3 97.80 1 TMX2 99.99 1 TNIK 99.93 1 TNK2 99.98 1 TNPO2 99.99 1 TNR 99.80 1 TNRC6B 99.99 1 TOE1 99.96 1 TOGARAM1 99.93 1 TOR1A 100.00 1 TP53RK 81.09 1 TP73 100.00 1 TPI1 99.95 1 TPK1 99.96 1 THPO 100.00 1 ACD 99.99 1 TRAF7 99.97 1 TRAIP 99.97 1 TRAK1 99.98 1 TRAPPC10 84.42 1 TRAPPC11 99.93 1 TRAPPC12 99.96 1 TRAPPC2L 100.00 1 TRAPPC4 100.00 1 TRAPPC6B 99.74 1 TRAPPC9 99.98 1 TREX1 100.00 1 TRIM32 100.00 1 TRIM8 99.82 1 TRIO 99.98 1 TRIP12 99.62 1 TRIP4 99.97 1 TRIT1 99.25 1 TRMT1 100.00 1 TRMT10A 99.90 1 TRMT10C 99.55 1 TRNT1 99.97 1 TRPM3 99.89 1 TRPM6 99.93 1 TRRAP 99.79 1 TSC1 99.99 1 TSC2 99.98 1 TSEN15 99.57 1 TSEN2 99.98 1 TSEN34 100.00 1 TSEN54 100.00 1 TSFM 100.00 1 TSHB 99.95 1 TSPAN7 99.97 1 TTC19 99.99 1 TTC21B 99.50 1 SKIC3 99.82 1 TTC5 100.00 1 TTC8 99.67 1 TTI1 100.00 1 TTI2 99.94 1 TUBA1A 99.97 1 TUBB 100.00 1 TUBB2A 87.26 1 TUBB2B 87.69 1 TUBB3 100.00 1 TUBB4A 100.00 1 TUBG1 99.95 1 TUBGCP2 96.54 1 TUBGCP4 99.80 1 TUBGCP6 100.00 1 TUFM 100.00 1 TUSC3 99.96 1 TWIST1 100.00 1 TWNK 100.00 1 U2AF2 99.98 1 UBA5 99.95 1 UBE2A 99.77 1 UBE3A 99.23 1 UBE3B 99.99 1 UBE4A 99.99 1 UBR1 99.93 1 UBR7 99.96 1 UBTF 99.99 1 UFC1 99.35 1 UFM1 99.25 1 UFSP2 99.74 1 UGDH 99.77 1 UGP2 99.85 1 UMPS 99.90 1 UNC80 98.04 1 UPB1 100.00 1 UPF3B 99.26 1 UQCRQ 99.96 1 UROC1 99.99 1 USP18 93.05 1 USP27X 99.99 1 USP7 99.90 1 USP9X 99.84 1 VAMP1 100.00 1 VAMP2 100.00 1 VARS1 99.99 1 VLDLR 99.99 1 VPS11 99.99 1 VPS13B 99.90 1 VPS16 100.00 1 VPS37A 99.96 1 VPS41 99.92 1 VPS4A 99.98 1 VPS53 100.00 1 VRK1 99.98 1 WAC 99.76 1 WARS2 97.72 1 WASF1 99.86 1 WASHC4 99.84 1 WASHC5 99.98 1 WDFY3 99.93 1 WDR19 99.80 1 WDR26 96.29 1 WDR37 99.94 1 WDR4 99.95 1 WDR45 99.99 1 WDR45B 100.00 1 WDR5 100.00 1 WDR62 99.96 1 WDR73 99.92 1 WDR81 100.00 1 WFS1 99.99 1 WNT1 99.97 1 WWOX 100.00 1 XK 99.98 1 XPA 99.68 1 XPNPEP3 99.99 1 XRCC4 99.89 1 XYLT1 99.98 1 XYLT2 99.97 1 YAP1 99.87 1 YIF1B 99.80 1 YIPF5 99.99 1 YME1L1 99.87 1 YWHAG 99.99 1 YY1 100.00 1 ZBTB11 99.97 1 ZBTB16 100.00 1 ZBTB18 99.41 1 ZBTB20 100.00 1 ZBTB24 99.99 1 ZC3H14 99.96 1 ZC4H2 99.98 1 ZDHHC9 99.61 1 ZEB2 99.97 1 ZFHX3 99.96 1 ZFHX4 99.99 1 ZFYVE26 100.00 1 ZIC1 99.99 1 ZIC2 100.00 1 ZMIZ1 99.92 1 ZMYM2 99.88 1 ZMYND11 99.99 1 ZNF142 100.00 1 ZNF148 99.85 1 ZNF292 99.91 1 ZNF335 100.00 1 ZNF407 99.98 1 ZNF423 98.94 1 ZNF462 99.99 1 ZNF526 100.00 1 ZNF699 100.00 1 ZNF711 99.43 1 ZSWIM6 98.94 1 -
Intellectual disability (gene panel)
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments A2ML1 97.92 0 No comment AAAS 98.73 0 No comment AARS1 98.82 0 No comment AASS 98.51 0 No comment ABAT 99.40 0 No comment ABCB11 98.30 0 No comment ABCB7 94.65 0 No comment ABCC6 99.58 0 No comment ABCC8 99.33 0 No comment ABCC9 99.05 0 No comment ABCD1 97.12 0 No comment ABCD4 98.90 0 No comment ABCG5 99.05 0 No comment ABHD12 89.63 0 No comment ABHD5 97.97 0 No comment ACAD9 99.34 0 No comment ACADM 97.15 0 No comment ACADS 99.06 0 No comment ACADSB 96.29 0 No comment ACADVL 98.55 0 No comment ACAN 98.12 0 No comment ACAT1 97.08 0 No comment ACBD6 99.00 0 No comment ACE2 97.24 0 No comment ACIN1 99.19 0 No comment ACO2 98.76 0 No comment ACOT9 97.29 0 No comment ACOX1 98.24 0 No comment ACP5 98.80 0 No comment ACSF3 99.18 0 No comment ACSL4 91.66 0 No comment ACTA2 99.56 0 No comment ACTB 99.87 0 No comment ACTG1 99.91 0 No comment ACTL6A 99.12 0 No comment ACTL6B 98.82 0 No comment ACVR1 99.30 0 No comment ACY1 99.53 0 No comment ADA 98.79 0 No comment ADAM22 97.86 0 No comment ADAMTS10 99.11 0 No comment ADAR 99.42 0 No comment ADARB1 93.73 0 No comment ADAT3 98.92 0 No comment COQ8A 99.33 0 No comment ADCY5 95.67 0 No comment ADD3 99.21 0 No comment ADK 98.15 0 No comment ADNP 99.77 0 No comment ADPRS 96.99 0 No comment ADRA2B 99.24 0 No comment ADSL 99.02 0 No comment AFF2 96.88 0 No comment AFF3 99.12 0 No comment AFF4 99.25 0 No comment AFG3L2 96.83 0 No comment AFP 98.35 0 No comment AGA 99.31 0 No comment AGK 99.23 0 No comment AGL 98.86 0 No comment AGMO 98.98 0 No comment AGO1 99.33 0 No comment AGPAT2 95.70 0 No comment AGPS 96.48 0 No comment AGT 99.43 0 No comment AGTR2 99.44 0 No comment AGXT 99.20 0 No comment AHCY 99.37 0 No comment AHDC1 99.43 0 No comment AHI1 98.72 0 No comment AIFM1 96.67 0 No comment AIMP1 96.59 0 No comment AIMP2 99.14 0 No comment AIPL1 99.50 0 No comment AIRE 97.18 0 No comment AK1 99.47 0 No comment AK2 98.26 0 No comment AKAP17A 96.52 0 No comment AKAP4 99.11 0 No comment AKAP6 99.28 0 No comment AKR1C2 99.87 0 No comment AKR1D1 99.35 0 No comment AKT1 99.32 0 No comment AKT3 97.83 0 No comment ALAD 99.59 0 No comment ALDH18A1 99.49 0 No comment ALDH1A3 96.21 0 No comment ALDH3A2 98.54 0 No comment ALDH4A1 98.01 0 No comment ALDH5A1 96.17 0 No comment ALDH7A1 98.33 0 No comment ALDOA 99.58 0 No comment ALDOB 99.46 0 No comment ALG1 99.07 0 No comment ALG11 99.81 0 No comment ALG12 99.70 0 No comment ALG13 91.46 0 No comment ALG14 98.86 0 No comment ALG2 99.56 0 No comment ALG3 98.85 0 No comment ALG6 98.37 0 No comment ALG8 99.11 0 No comment ALG9 98.84 0 No comment ALKBH8 98.86 0 No comment ALMS1 99.15 0 No comment ALPL 99.07 0 No comment ALS2 98.98 0 No comment ALX1 99.69 0 No comment ALX3 96.22 0 No comment ALX4 99.35 0 No comment AMER1 99.70 0 No comment AMPD2 99.08 0 No comment AMT 99.79 0 No comment ANK3 99.57 0 No comment ANKH 99.15 0 No comment ANKRD11 97.84 0 No comment ANO10 98.75 0 No comment ANO3 99.47 0 No comment ANO5 99.01 0 No comment ANTXR1 94.84 0 No comment AP1B1 99.25 0 No comment AP1S1 95.66 0 No comment AP1S2 85.55 0 No comment AP2M1 98.28 0 No comment AP3B1 98.71 0 No comment AP3B2 98.28 0 No comment AP4B1 99.39 0 No comment AP4E1 98.53 0 No comment AP4M1 99.53 0 No comment AP4S1 99.30 0 No comment AP5Z1 98.97 0 No comment APC2 94.47 0 No comment COA8 95.39 0 No comment APTX 98.38 0 No comment AQP7 99.87 0 No comment AR 95.56 0 No comment ARCN1 96.22 0 No comment ARFGEF2 98.65 0 No comment ARG1 99.07 0 No comment ARHGAP31 99.50 0 No comment ARHGAP36 98.64 0 No comment ARHGAP6 95.05 0 No comment ARHGEF2 98.52 0 No comment ARHGEF4 99.40 0 No comment ARHGEF6 94.23 0 No comment ARHGEF9 96.24 0 No comment ARID1A 97.52 0 No comment ARID1B 95.00 0 No comment ARID2 99.53 0 No comment ARIH1 98.86 0 No comment ARL13B 97.87 0 No comment ARL14EP 97.37 0 No comment ARL6 98.82 0 No comment ODAD2 98.89 0 No comment ARMC9 98.71 0 No comment ARSA 99.35 0 No comment ARSB 96.85 0 No comment ARSL 94.37 0 No comment ARSF 93.30 0 No comment ARV1 99.17 0 No comment ARX 75.98 0 No comment ASAH1 98.03 0 No comment ASB12 96.10 0 No comment ASCC3 98.81 0 No comment ASCL1 98.32 0 No comment ASH1L 99.56 0 No comment ASL 98.41 0 No comment ASMT 92.35 0 No comment ASMTL 99.94 0 No comment ASNS 99.40 0 No comment ASPA 98.77 0 No comment ASPH 98.90 0 No comment ASPM 99.12 0 No comment ASS1 99.61 0 No comment ASTN1 99.12 0 No comment ASXL1 99.32 0 No comment ASXL2 94.54 0 No comment ASXL3 98.97 0 No comment ATAD1 95.52 0 No comment ATAD3A 98.34 0 No comment ATCAY 99.48 0 No comment ATIC 98.97 0 No comment ATL1 96.64 0 No comment ATM 98.13 0 No comment ATN1 98.73 0 No comment ATP13A2 99.25 0 No comment ATP1A1 98.42 0 No comment ATP1A2 98.77 0 No comment ATP1A3 99.51 0 No comment ATP2A2 98.83 0 No comment ATP2B3 97.71 0 No comment ATP6AP1 96.58 0 No comment ATP6AP2 93.72 0 No comment ATP6V0A2 99.30 0 No comment ATP6V1A 97.97 0 No comment ATP6V1B1 98.05 0 No comment ATP6V1B2 98.55 0 No comment ATP7A 96.22 0 No comment ATP7B 99.52 0 No comment ATP8A2 99.53 0 No comment ATP8B1 98.96 0 No comment ATR 98.89 0 No comment ATRX 95.60 0 No comment ATXN1 99.33 0 No comment ATXN10 98.33 0 No comment ATXN2 91.35 0 No comment ATXN3 98.93 0 No comment ATXN3L 99.08 0 No comment ATXN7 95.21 0 No comment AUH 99.00 0 No comment AUTS2 98.29 0 No comment AVP 86.48 0 No comment AVPR2 99.55 0 No comment AWAT2 98.86 0 No comment B3GALNT2 96.88 0 No comment B3GALT6 74.99 0 No comment B3GLCT 95.44 0 No comment B4GALNT1 98.73 0 No comment B4GALT1 97.25 0 No comment B4GALT7 93.89 0 No comment B9D1 98.92 0 No comment BBS1 99.26 0 No comment BBS10 99.67 0 No comment BBS12 99.69 0 No comment BBS2 98.90 0 No comment BBS4 98.91 0 No comment BBS5 98.35 0 No comment BBS7 99.11 0 No comment BBS9 98.84 0 No comment BCAP31 92.90 0 No comment BCKDHA 99.19 0 No comment BCKDHB 99.14 0 No comment BCKDK 98.03 0 No comment BCL11A 99.29 0 No comment BCL11B 95.65 0 No comment BCOR 98.20 0 No comment BCORL1 98.79 0 No comment BCS1L 99.07 0 No comment BDP1 99.48 0 No comment BEAN1 99.42 0 No comment BFSP2 99.16 0 No comment BGN 97.15 0 No comment BHLHA9 83.99 0 No comment BICD2 99.34 0 No comment BIN1 99.27 0 No comment BLM 97.69 0 No comment BMP15 94.45 0 No comment BMP4 99.03 0 No comment BMPER 99.17 0 No comment BMPR1B 99.45 0 No comment BOLA3 98.55 0 No comment BPIFB6 98.75 0 No comment BPTF 96.21 0 No comment BRAF 97.62 0 No comment BRAT1 98.61 0 No comment BRCA1 99.65 0 No comment BRCA2 98.74 0 No comment BRD4 90.53 0 No comment BRF1 97.49 0 No comment BRIP1 98.87 0 No comment BRPF1 99.09 0 No comment BRSK2 97.89 0 No comment BRWD3 96.19 0 No comment BSCL2 99.32 0 No comment BSND 99.48 0 No comment BTD 99.63 0 No comment BTK 96.82 0 No comment BUB1B 98.89 0 No comment C12ORF4 98.72 0 No comment C12ORF57 99.66 0 No comment MTRFR 98.21 0 No comment CCDC32 98.00 0 No comment VPS35L 98.65 0 No comment C19ORF12 98.79 0 No comment C2CD3 98.92 0 No comment PCARE 98.64 0 No comment DIPK2A 99.10 0 No comment ODAPH 99.74 0 No comment CPLANE1 98.94 0 No comment CFAP418 98.78 0 No comment C9ORF72 98.10 0 No comment CA2 99.35 0 No comment CA5A 99.23 0 No comment CA8 99.30 0 No comment CACNA1A 98.14 0 No comment CACNA1B 96.02 0 No comment CACNA1C 99.14 0 No comment CACNA1D 99.31 0 No comment CACNA1E 99.29 0 No comment CACNA1F 97.17 0 No comment CACNA1G 99.06 0 No comment CACNA1H 98.12 0 No comment CACNA1S 98.76 0 No comment CACNA2D2 95.24 0 No comment CACNA2D3 98.17 0 No comment CACNB4 99.35 0 No comment CACNG2 99.57 0 No comment CAD 99.05 0 No comment CAMK2A 99.63 0 No comment CAMK2B 97.56 0 No comment CAMK2G 96.97 0 No comment CAMTA1 99.08 0 No comment CANT1 98.12 0 No comment CAP1 99.44 0 No comment CAPN10 99.27 0 No comment CAPRIN1 99.09 0 No comment CAPZA2 96.21 0 No comment CARS1 99.79 0 No comment CARS2 96.59 0 No comment KNL1 96.88 0 No comment CASK 95.86 0 No comment CASP2 99.05 0 No comment CASR 99.36 0 No comment CBL 98.79 0 No comment CBS 99.88 0 No comment CC2D1A 98.90 0 No comment CC2D2A 98.66 0 No comment CCBE1 98.76 0 No comment CCDC103 99.47 0 No comment ODAD1 99.10 0 No comment CCDC115 99.59 0 No comment CCDC22 97.58 0 No comment SVBP 99.76 0 No comment CCDC39 98.58 0 No comment CCDC40 98.68 0 No comment CEP83 98.29 0 No comment CCDC47 98.08 0 No comment CCDC65 99.18 0 No comment CCDC78 99.72 0 No comment CCDC8 99.54 0 No comment CCDC88A 98.66 0 No comment CCDC88C 99.06 0 No comment CCNA2 99.24 0 No comment CCNB3 99.08 0 No comment CCND2 98.80 0 No comment CCNO 99.50 0 No comment CCT5 98.48 0 No comment CD96 98.95 0 No comment CD99 99.96 0 No comment CDC42 98.38 0 No comment CDC42BPB 99.25 0 No comment CDC45 99.38 0 No comment CDC6 98.74 0 No comment CDH11 99.46 0 No comment CDH15 99.37 0 No comment CDH2 99.12 0 No comment CDH23 98.80 0 No comment CDH3 99.16 0 No comment CDK10 99.78 0 No comment CDK13 95.98 0 No comment CDK16 98.07 0 No comment CDK19 99.08 0 No comment CDK5R1 99.67 0 No comment CDK5RAP2 99.35 0 No comment CDK8 96.11 0 No comment CDKL5 93.83 0 No comment CDKN1C 86.67 0 No comment CDON 98.33 0 No comment CDT1 91.10 0 No comment CENPF 98.91 0 No comment CENPJ 99.50 0 No comment CEP104 99.17 0 No comment CEP135 96.95 0 No comment CEP152 98.51 0 No comment CEP290 98.38 0 No comment CEP41 98.54 0 No comment CEP55 99.06 0 No comment CEP57 98.39 0 No comment CEP63 98.63 0 No comment CFP 97.99 0 No comment CHAMP1 99.90 0 No comment CHD2 98.65 0 No comment CHD3 98.02 0 No comment CHD4 99.40 0 No comment CHD7 99.13 0 No comment CHD8 99.13 0 No comment CHKB 97.91 0 No comment DDX11 98.90 0 No comment CHM 89.56 0 No comment CHMP1A 98.78 0 No comment CHRDL1 97.84 0 No comment CHRNA2 99.41 0 No comment CHRNA4 98.72 0 No comment CHRNB2 99.57 0 No comment CHRNG 99.02 0 No comment CHST14 98.06 0 No comment CHST3 99.63 0 No comment CHSY1 93.60 0 No comment CHUK 98.09 0 No comment CIB2 98.54 0 No comment CIC 98.17 0 No comment CISD2 97.44 0 No comment CIT 99.14 0 No comment CKAP2L 99.24 0 No comment CLCN2 99.53 0 No comment CLCN4 98.32 0 No comment CLCN5 98.19 0 No comment CLCN7 97.43 0 No comment CLCNKA 99.53 0 No comment CLCNKB 99.55 0 No comment CLDN19 98.68 0 No comment CLIC2 95.82 0 No comment CLN3 99.63 0 No comment CLN5 98.95 0 No comment CLN6 94.08 0 No comment CLN8 99.98 0 No comment CLP1 99.53 0 No comment CLPB 98.72 0 No comment CLPP 98.67 0 No comment CLTC 98.69 0 No comment CMC4 96.87 0 No comment CNKSR1 99.49 0 No comment CNKSR2 95.65 0 No comment CNNM2 99.22 0 No comment CNOT1 98.98 0 No comment CNOT2 99.08 0 No comment CNOT3 98.24 0 No comment CNTN3 99.26 0 No comment CNTN4 99.15 0 No comment CNTNAP2 99.12 0 No comment COA3 99.34 0 No comment COA5 99.73 0 No comment COASY 98.90 0 No comment COG1 99.22 0 No comment COG4 99.26 0 No comment COG5 98.95 0 No comment COG6 98.53 0 No comment COG7 99.10 0 No comment COG8 99.58 0 No comment COL10A1 98.73 0 No comment COL11A1 99.16 0 No comment COL11A2 99.40 0 No comment COL18A1 98.80 0 No comment COL1A1 98.56 0 No comment COL1A2 99.53 0 No comment COL25A1 99.68 0 No comment COL2A1 99.63 0 No comment COL4A1 98.90 0 No comment COL4A2 98.81 0 No comment COL4A3 98.60 0 No comment CERT1 98.80 0 No comment COL4A4 99.18 0 No comment COL4A6 96.60 0 No comment COL6A1 99.30 0 No comment COL6A3 99.58 0 No comment COL9A1 99.37 0 No comment COL9A2 99.12 0 No comment COL9A3 95.16 0 No comment COLEC10 98.66 0 No comment COLEC11 99.77 0 No comment COMP 99.30 0 No comment COQ2 97.65 0 No comment COQ4 98.65 0 No comment COQ5 98.41 0 No comment COQ9 98.96 0 No comment COX10 99.59 0 No comment COX14 97.55 0 No comment COX15 99.27 0 No comment COX6B1 99.22 0 No comment COX7B 98.33 0 No comment CP 98.56 0 No comment CPA6 99.18 0 No comment HOMER2 98.16 0 No comment CPS1 99.26 0 No comment CPXCR1 98.61 0 No comment CRADD 98.71 0 No comment CRB1 99.41 0 No comment CRB2 98.33 0 No comment CRBN 99.00 0 No comment CREBBP 99.20 0 No comment CRLF2 96.34 0 No comment CRX 99.30 0 No comment CRYAA 99.93 0 No comment CRYBA1 99.47 0 No comment CRYBA4 99.30 0 No comment CRYBB1 99.71 0 No comment CRYBB2 99.21 0 No comment CRYBB3 97.71 0 No comment CRYGC 99.70 0 No comment CRYGD 99.70 0 No comment CSDE1 99.37 0 No comment CSF1R 98.97 0 No comment CSF2RA 88.66 0 No comment CSNK1G1 98.84 0 No comment CSNK2A1 99.27 0 No comment CSNK2B 99.56 0 No comment CSPP1 98.55 0 No comment CSTB 99.72 0 No comment CSTF2 95.94 0 No comment CTBP1 96.89 0 No comment CTC1 99.15 0 No comment CTCF 98.88 0 No comment CTDP1 96.55 0 No comment CCN2 97.14 0 No comment CTNNA2 98.80 0 No comment CTNNB1 99.57 0 No comment CTNND2 94.20 0 No comment CTNS 99.36 0 No comment CTPS2 96.99 0 No comment CTSA 99.45 0 No comment CTSD 99.18 0 No comment CTSF 96.71 0 No comment CTSK 99.73 0 No comment CTTNBP2 99.25 0 No comment CTU2 98.59 0 No comment CUL3 98.83 0 No comment CUL4B 92.06 0 No comment CUL7 99.50 0 No comment CUX1 96.61 0 No comment CUX2 98.80 0 No comment CWC27 97.65 0 No comment CWF19L1 98.83 0 No comment CFAP47 93.78 0 No comment STEEP1 92.87 0 No comment CXorf58 94.93 0 No comment CYB5R3 97.94 0 No comment CYC1 91.11 0 No comment CYFIP2 98.67 0 No comment CYP1B1 99.46 0 No comment CYP27A1 99.02 0 No comment CYP2U1 96.42 0 No comment CYP7B1 97.88 0 No comment D2HGDH 99.43 0 No comment DAB1 98.49 0 No comment DACT1 97.23 0 No comment DAG1 99.84 0 No comment DARS1 97.83 0 No comment DARS2 98.51 0 No comment DBT 98.43 0 No comment DCAF17 98.20 0 No comment DCC 99.25 0 No comment DCHS1 99.42 0 No comment DCHS2 96.72 0 No comment DCPS 99.51 0 No comment DCTN1 99.19 0 No comment DCX 97.69 0 No comment DDB2 99.44 0 No comment DDC 98.92 0 No comment DDHD1 98.96 0 No comment DDHD2 97.51 0 No comment DDOST 99.21 0 No comment DDR2 98.02 0 No comment INTS6L 94.69 0 No comment DDX3X 94.86 0 No comment DDX53 99.21 0 No comment RIGI 98.54 0 No comment DDX59 98.74 0 No comment DDX6 99.28 0 No comment DEAF1 94.52 0 No comment DECR1 98.30 0 No comment DEGS1 98.48 0 No comment DENND5A 98.76 0 No comment DEPDC5 98.88 0 No comment DGKH 97.01 0 No comment DHCR24 99.02 0 No comment DHCR7 99.47 0 No comment DHDDS 97.02 0 No comment DHFR 96.94 0 No comment DHODH 99.05 0 No comment DHPS 98.61 0 No comment DHRSX 91.20 0 No comment DHTKD1 98.94 0 No comment DHX30 98.83 0 No comment DIAPH1 91.23 0 No comment DIAPH2 87.29 0 No comment DIP2B 98.90 0 No comment DIS3L2 98.91 0 No comment DKC1 93.86 0 No comment DLAT 98.39 0 No comment DLD 98.88 0 No comment DLG1 98.14 0 No comment DLG2 99.29 0 No comment DLG3 97.25 0 No comment DLG4 99.13 0 No comment DLGAP2 99.74 0 No comment DLL3 86.64 0 No comment DLL4 99.36 0 No comment DMD 96.45 0 No comment DMP1 99.65 0 No comment DMPK 99.32 0 No comment DMXL2 98.36 0 No comment DNA2 98.22 0 No comment DNAAF3 98.65 0 No comment DNAJC12 99.66 0 No comment DNAJC19 96.91 0 No comment DNAJC3 96.14 0 No comment DNM1 97.82 0 No comment DNM1L 98.63 0 No comment DNM2 98.34 0 No comment DNMT1 98.21 0 No comment DNMT3A 99.20 0 No comment DNMT3B 99.29 0 No comment DOCK11 92.03 0 No comment DOCK3 98.52 0 No comment DOCK6 99.05 0 No comment DOCK7 98.51 0 No comment DOCK8 99.20 0 No comment DOLK 99.80 0 No comment DONSON 96.21 0 No comment DPAGT1 99.38 0 No comment DPF1 98.48 0 No comment DPF2 99.34 0 No comment DPF3 99.50 0 No comment DPH1 99.38 0 No comment DPM1 99.42 0 No comment DPM2 99.20 0 No comment DPM3 99.69 0 No comment DPP6 92.06 0 No comment DPYD 99.12 0 No comment DRD2 99.36 0 No comment DSCAM 98.89 0 No comment VPS26C 99.43 0 No comment DSPP 98.82 0 No comment DST 98.99 0 No comment DSTYK 99.35 0 No comment DVL1 99.68 0 No comment DVL3 98.80 0 No comment DYM 97.55 0 No comment DYNC1H1 99.37 0 No comment DYNC1I2 98.87 0 No comment DYNC2H1 97.67 0 No comment DYRK1A 99.47 0 No comment DNAAF4 98.09 0 No comment EBF3 99.40 0 No comment EBP 98.55 0 No comment ECEL1 97.04 0 No comment EDA 97.49 0 No comment EDNRA 99.24 0 No comment EDNRB 98.60 0 No comment EED 97.73 0 No comment EEF1A2 92.77 0 No comment EEF1B2 97.60 0 No comment EFHC1 98.17 0 No comment EFNB1 98.53 0 No comment EFTUD2 98.05 0 No comment EGR2 99.61 0 No comment EHMT1 98.17 0 No comment EIF2A 97.83 0 No comment EIF2AK1 98.91 0 No comment EIF2AK3 97.90 0 No comment EIF2S3 97.86 0 No comment EIF3F 99.59 0 No comment EIF4A3 99.56 0 No comment EIF4G1 99.24 0 No comment ELAC2 99.51 0 No comment ELK1 98.30 0 No comment ELN 99.54 0 No comment ELOVL4 99.51 0 No comment ELOVL5 98.85 0 No comment ELP2 99.00 0 No comment EMC1 99.43 0 No comment EMG1 99.17 0 No comment EML1 98.84 0 No comment EMX2 99.75 0 No comment EN2 95.92 0 No comment ENOX2 95.88 0 No comment ENPP1 95.08 0 No comment TEPSIN 99.67 0 No comment ENTPD1 97.83 0 No comment EOGT 90.07 0 No comment EOMES 99.11 0 No comment EP300 99.21 0 No comment EPB41L1 99.19 0 No comment EPG5 98.98 0 No comment EPM2A 91.75 0 No comment EPPK1 99.37 0 No comment SELENOI 98.64 0 No comment ERCC1 97.35 0 No comment ERCC2 98.26 0 No comment ERCC3 99.57 0 No comment ERCC4 99.08 0 No comment ERCC5 99.17 0 No comment ERCC6 99.25 0 No comment ERCC6L2 98.36 0 No comment ERCC8 99.23 0 No comment ERF 99.27 0 No comment ERLIN2 99.21 0 No comment ERMARD 99.76 0 No comment ESCO2 97.40 0 No comment ESX1 96.03 0 No comment ETFA 97.87 0 No comment ETFB 99.51 0 No comment ETFDH 97.92 0 No comment ETHE1 98.75 0 No comment EVC 94.14 0 No comment EVC2 97.83 0 No comment EXOSC3 98.97 0 No comment EXOSC8 98.32 0 No comment EXT1 99.14 0 No comment EXT2 99.43 0 No comment EXTL3 99.80 0 No comment EYA1 99.11 0 No comment EZH2 96.67 0 No comment F5 99.15 0 No comment FA2H 97.25 0 No comment FAAH2 92.70 0 No comment FAH 96.88 0 No comment OTULIN 89.08 0 No comment FAM111A 99.59 0 No comment FAM111B 99.76 0 No comment FAM120C 96.47 0 No comment HYCC1 99.23 0 No comment RETREG1 97.37 0 No comment FHIP2A 97.70 0 No comment FAM161A 99.42 0 No comment FAM20A 94.00 0 No comment FAM20C 96.33 0 No comment FAM47B 99.81 0 No comment CCNQ 84.67 0 No comment FANCA 98.47 0 No comment FANCB 97.15 0 No comment FANCC 99.30 0 No comment FANCD2 99.02 0 No comment FANCE 95.74 0 No comment FANCF 99.29 0 No comment FANCG 98.43 0 No comment FANCI 98.29 0 No comment FAR1 97.96 0 No comment FARS2 99.13 0 No comment FASN 99.66 0 No comment FAT4 99.73 0 No comment FBLN5 97.72 0 No comment FBN1 99.18 0 No comment FBN2 99.13 0 No comment FBP1 99.54 0 No comment FBXL3 98.89 0 No comment FBXL4 99.22 0 No comment FBXO11 98.18 0 No comment FBXO25 98.32 0 No comment FBXO7 99.44 0 No comment FBXO8 99.00 0 No comment FBXW11 98.85 0 No comment FBXW4 98.88 0 No comment FDFT1 96.29 0 No comment FDXR 99.16 0 No comment FEM1B 98.39 0 No comment FGD1 95.65 0 No comment FGD4 97.87 0 No comment FGF10 98.79 0 No comment FGF12 99.23 0 No comment FGF14 99.47 0 No comment FGF3 95.52 0 No comment FGFR1 99.06 0 No comment FGFR2 99.55 0 No comment FGFR3 98.01 0 No comment FH 98.88 0 No comment FHL1 98.74 0 No comment FIBP 99.40 0 No comment FIG4 98.99 0 No comment FKBP14 98.92 0 No comment FKBP6 99.52 0 No comment FKBPL 99.97 0 No comment FKRP 97.44 0 No comment FKTN 98.78 0 No comment FLAD1 99.48 0 No comment FLNA 98.47 0 No comment FLNB 98.87 0 No comment FLT4 98.94 0 No comment FLVCR1 98.36 0 No comment FLVCR2 99.65 0 No comment FMN2 96.08 0 No comment FMR1 96.13 0 No comment FOLR1 99.56 0 No comment FOXC1 91.49 0 No comment FOXC2 93.24 0 No comment FOXE1 88.43 0 No comment FOXE3 70.11 0 No comment FOXF1 98.60 0 No comment FOXG1 78.93 0 No comment FOXN1 99.64 0 No comment FOXP1 98.65 0 No comment FOXP2 98.84 0 No comment FOXP3 95.40 0 No comment FOXRED1 98.46 0 No comment FRAS1 98.89 0 No comment FREM1 99.07 0 No comment FREM2 99.25 0 No comment FRMD7 97.20 0 No comment FRMPD4 97.55 0 No comment FRRS1L 82.94 0 No comment FRY 99.11 0 No comment FTCD 98.94 0 No comment FTL 97.48 0 No comment FTO 99.41 0 No comment FTSJ1 98.72 0 No comment FUCA1 98.66 0 No comment FCSK 99.13 0 No comment FUT8 98.58 0 No comment FXN 96.73 0 No comment FYCO1 99.38 0 No comment FZD3 99.31 0 No comment FZD6 99.22 0 No comment G6PC3 99.48 0 No comment GAA 99.39 0 No comment GAB3 94.68 0 No comment GABBR2 96.86 0 No comment GABRA1 99.65 0 No comment GABRA2 99.34 0 No comment GABRA5 99.43 0 No comment GABRB2 98.99 0 No comment GABRB3 99.65 0 No comment GABRG2 91.85 0 No comment GABRG3 99.67 0 No comment GABRQ 96.87 0 No comment GAD1 99.31 0 No comment GALC 98.53 0 No comment GALE 98.79 0 No comment GALK1 99.12 0 No comment GALNS 98.20 0 No comment GALNT2 99.25 0 No comment GALT 99.67 0 No comment GAMT 98.08 0 No comment GAN 98.97 0 No comment GAS8 98.96 0 No comment GATA2 99.39 0 No comment GATA4 94.57 0 No comment GATA6 90.43 0 No comment GATAD2B 99.84 0 No comment GATM 99.31 0 No comment GBA1 99.80 0 No comment GBA2 99.40 0 No comment GBE1 98.14 0 No comment GCDH 99.26 0 No comment GCH1 98.31 0 No comment GCK 99.00 0 No comment GCSH 98.69 0 No comment GDAP1 99.61 0 No comment GDF5 98.79 0 No comment GDF6 95.02 0 No comment GDI1 96.43 0 No comment GEMIN4 99.84 0 No comment GFAP 99.47 0 No comment GFER 96.28 0 No comment GFM1 98.59 0 No comment GHR 98.44 0 No comment GIGYF2 98.79 0 No comment GJA1 99.86 0 No comment GJA3 98.78 0 No comment GJA8 99.16 0 No comment GJB1 99.27 0 No comment GJB2 99.76 0 No comment GJB3 99.85 0 No comment GJC2 86.86 0 No comment GK 95.46 0 No comment GLB1 99.09 0 No comment GLDC 98.46 0 No comment GLE1 99.11 0 No comment GLI2 98.54 0 No comment GLI3 99.24 0 No comment GLIS3 99.02 0 No comment GLMN 98.58 0 No comment GLRA1 98.32 0 No comment GLRA2 91.37 0 No comment GLUD1 97.56 0 No comment GLUL 99.52 0 No comment GLYCTK 99.68 0 No comment GM2A 99.64 0 No comment GMNN 96.21 0 No comment GMPPA 99.75 0 No comment GMPPB 98.26 0 No comment GNAI1 98.99 0 No comment GNAI2 98.07 0 No comment GNAI3 97.86 0 No comment GNAL 97.43 0 No comment GNAO1 98.80 0 No comment GNAS 99.61 0 No comment GNB1 98.37 0 No comment GNB5 99.14 0 No comment GNE 99.40 0 No comment GNPAT 96.78 0 No comment GNPTAB 99.40 0 No comment GNPTG 97.82 0 No comment GNS 99.15 0 No comment GON4L 99.53 0 No comment GORAB 98.74 0 No comment GOSR2 99.40 0 No comment GOT2 99.15 0 No comment GPAA1 99.20 0 No comment GPC3 95.93 0 No comment GPC4 97.39 0 No comment GPHN 99.23 0 No comment ADGRG4 98.24 0 No comment ADGRG6 98.33 0 No comment GPR179 99.76 0 No comment ADGRG1 99.61 0 No comment ADGRV1 98.49 0 No comment GPRASP1 99.60 0 No comment GPSM2 98.63 0 No comment GPT2 95.94 0 No comment GRB14 97.87 0 No comment GRHL3 98.78 0 No comment GRIA1 98.02 0 No comment GRIA2 98.58 0 No comment GRIA3 92.43 0 No comment GRIA4 98.61 0 No comment GRID2 99.29 0 No comment GRIK2 99.11 0 No comment GRIN1 99.26 0 No comment GRIN2A 99.71 0 No comment GRIN2B 99.64 0 No comment GRIN2D 78.36 0 No comment GRIP1 99.51 0 No comment GRM1 98.88 0 No comment GRM6 93.42 0 No comment GRN 99.81 0 No comment GSPT2 99.68 0 No comment GSS 99.18 0 No comment GSX2 99.55 0 No comment GTF2E2 98.84 0 No comment GTF2H5 98.97 0 No comment GTF3C3 98.70 0 No comment GTPBP2 98.27 0 No comment GTPBP3 98.65 0 No comment GTPBP8 98.83 0 No comment GUCY2C 99.16 0 No comment GUSB 98.83 0 No comment GYS2 99.38 0 No comment H3-3A 99.28 0 No comment H3-3B 99.69 0 No comment HACE1 98.93 0 No comment HADH 98.21 0 No comment HADHA 99.44 0 No comment HADHB 99.06 0 No comment HARS2 97.76 0 No comment HAUS7 95.60 0 No comment HAX1 99.52 0 No comment HCCS 97.34 0 No comment HCFC1 97.80 0 No comment HCN1 98.04 0 No comment HDAC4 99.39 0 No comment HDAC6 97.59 0 No comment HDAC8 97.78 0 No comment PUDP 97.74 0 No comment HECW2 98.89 0 No comment HEPACAM 98.19 0 No comment HERC1 99.17 0 No comment HERC2 99.81 0 No comment HESX1 99.33 0 No comment HEXA 99.52 0 No comment HEXB 98.68 0 No comment HGSNAT 93.69 0 No comment HIBCH 99.31 0 No comment HINT1 99.52 0 No comment H1-4 98.83 0 No comment H4C2 99.68 0 No comment H4C3 99.67 0 No comment H4C11 99.75 0 No comment H3-4 99.95 0 No comment HIVEP2 99.83 0 No comment HK1 99.43 0 No comment HLCS 95.35 0 No comment HMGB3 95.15 0 No comment HMGCL 99.25 0 No comment HMGCS2 98.52 0 No comment HNF1B 99.68 0 No comment HNF4A 99.42 0 No comment HNMT 99.40 0 No comment HNRNPH2 98.98 0 No comment HNRNPK 99.14 0 No comment HNRNPR 99.29 0 No comment HNRNPU 99.13 0 No comment HOXA1 99.10 0 No comment HOXA13 75.31 0 No comment HOXC13 98.67 0 No comment HOXD10 99.56 0 No comment HOXD13 96.00 0 No comment HPD 99.12 0 No comment HPGD 98.68 0 No comment HPRT1 91.01 0 No comment HPS1 98.99 0 No comment HPSE2 99.23 0 No comment HR 98.73 0 No comment HRAS 99.96 0 No comment HS6ST2 98.48 0 No comment HSD17B10 99.12 0 No comment HSD17B4 98.53 0 No comment HSD3B7 93.20 0 No comment HSF4 98.76 0 No comment HSPD1 99.48 0 No comment HSPG2 99.24 0 No comment HTRA2 98.32 0 No comment HTT 98.29 0 No comment HUWE1 96.58 0 No comment HYAL1 99.27 0 No comment HYDIN 98.89 0 No comment HYLS1 99.56 0 No comment IARS1 98.84 0 No comment IARS2 98.71 0 No comment IBA57 96.07 0 No comment IDH2 94.56 0 No comment IDS 97.02 0 No comment IDUA 94.91 0 No comment IER3IP1 98.58 0 No comment IFIH1 98.73 0 No comment IFITM5 99.18 0 No comment IFNAR2 99.17 0 No comment IFT122 98.98 0 No comment IFT140 99.19 0 No comment IFT172 99.43 0 No comment IFT27 99.45 0 No comment IFT43 99.37 0 No comment IFT80 98.80 0 No comment IGBP1 98.38 0 No comment IGF1 98.50 0 No comment IGF1R 99.32 0 No comment IGF2 98.94 0 No comment IGHMBP2 99.36 0 No comment IGSF1 95.84 0 No comment IHH 98.73 0 No comment IKBKG 96.16 0 No comment IL11RA 99.17 0 No comment IL1RAPL1 97.07 0 No comment IL1RAPL2 97.20 0 No comment IL3RA 99.85 0 No comment ILF2 99.02 0 No comment BPNT2 99.21 0 No comment INF2 94.80 0 No comment INPP4A 99.16 0 No comment INPP5E 98.98 0 No comment INPP5K 99.11 0 No comment INPPL1 98.07 0 No comment INSR 96.93 0 No comment INTS1 99.07 0 No comment INTS6 98.76 0 No comment INTS8 97.79 0 No comment IQSEC1 96.84 0 No comment IQSEC2 88.71 0 No comment IQSEC3 99.28 0 No comment IRAK1 94.66 0 No comment IRF2BPL 97.48 0 No comment IRF6 98.80 0 No comment IRX5 98.01 0 No comment ISCA2 99.85 0 No comment CRPPA 86.74 0 No comment ITCH 94.90 0 No comment ITGA3 99.19 0 No comment ITGA4 96.65 0 No comment ITGA7 99.02 0 No comment ITGB6 99.17 0 No comment ITIH6 96.21 0 No comment ITPA 99.87 0 No comment ITPR1 98.49 0 No comment IVD 99.26 0 No comment JAG1 99.05 0 No comment JAGN1 99.34 0 No comment JAK3 98.80 0 No comment JAM3 98.99 0 No comment KANK1 98.55 0 No comment KANSL1 99.38 0 No comment KARS1 99.19 0 No comment KAT5 99.33 0 No comment KAT6A 99.45 0 No comment KAT6B 99.14 0 No comment KAT8 96.84 0 No comment KATNAL2 99.21 0 No comment KATNB1 99.24 0 No comment KBTBD13 98.92 0 No comment KCNA1 99.84 0 No comment KCNA2 99.87 0 No comment KCNB1 99.55 0 No comment KCNC1 99.57 0 No comment KCNC3 79.69 0 No comment KCND1 97.45 0 No comment KCND3 99.47 0 No comment KCNE1 99.99 0 No comment KCNH1 99.06 0 No comment KCNH5 98.52 0 No comment KCNJ10 99.06 0 No comment KCNJ11 99.50 0 No comment KCNJ6 99.58 0 No comment KCNK12 94.89 0 No comment KCNK4 98.87 0 No comment KCNK9 99.78 0 No comment KCNMA1 98.89 0 No comment KCNN3 99.58 0 No comment KCNQ1 94.82 0 No comment KCNQ2 98.91 0 No comment KCNQ3 97.63 0 No comment KCNQ5 98.24 0 No comment KCNT1 98.83 0 No comment KCNT2 98.81 0 No comment KCTD1 99.70 0 No comment KCTD3 99.34 0 No comment KCTD7 98.45 0 No comment KDM1A 97.93 0 No comment KDM3B 98.22 0 No comment KDM5A 99.06 0 No comment KDM5B 98.98 0 No comment KDM5C 98.12 0 No comment KDM6A 95.37 0 No comment KDM6B 97.67 0 No comment TMEM94 99.37 0 No comment WASHC5 98.20 0 No comment RUBCN 99.10 0 No comment KIAA0586 93.75 0 No comment KIAA1109 98.44 0 No comment KIFBP 99.27 0 No comment RIC1 99.07 0 No comment LNPK 99.07 0 No comment NEXMIF 99.59 0 No comment KIDINS220 99.40 0 No comment KIF11 98.60 0 No comment KIF14 98.97 0 No comment KIF1A 99.09 0 No comment KIF1C 99.18 0 No comment KIF21A 98.56 0 No comment KIF22 98.71 0 No comment KIF26B 99.62 0 No comment KIF2A 98.32 0 No comment KIF4A 96.82 0 No comment KIF5A 97.77 0 No comment KIF5C 96.11 0 No comment KIF7 96.34 0 No comment KIRREL3 98.99 0 No comment KIT 99.30 0 No comment KLF1 99.27 0 No comment KLF7 99.57 0 No comment KLF8 96.17 0 No comment KLHL15 99.48 0 No comment KLHL21 97.63 0 No comment KLHL34 97.50 0 No comment KLHL4 96.56 0 No comment KLHL40 99.52 0 No comment KLHL7 99.04 0 No comment KMT2A 98.08 0 No comment KMT2B 96.01 0 No comment KMT2C 99.21 0 No comment KMT2D 99.70 0 No comment KMT2E 98.57 0 No comment KPTN 98.80 0 No comment KRAS 97.27 0 No comment KRIT1 98.55 0 No comment L1CAM 97.47 0 No comment L2HGDH 98.33 0 No comment LAMA1 99.36 0 No comment LAMA2 99.11 0 No comment LAMB1 99.38 0 No comment LAMB2 99.40 0 No comment LAMC3 97.47 0 No comment LAMP2 95.99 0 No comment LARGE1 99.44 0 No comment LARP7 97.05 0 No comment LARS2 99.25 0 No comment LAS1L 98.38 0 No comment LBR 99.13 0 No comment LDB3 95.69 0 No comment LEMD3 98.30 0 No comment P3H1 99.32 0 No comment LFNG 80.45 0 No comment LGI1 99.81 0 No comment LGI4 99.14 0 No comment LHFPL3 95.05 0 No comment LHX3 99.03 0 No comment LHX4 99.11 0 No comment LIAS 98.84 0 No comment LIG4 99.71 0 No comment LIMK1 99.08 0 No comment LINGO1 99.68 0 No comment LINS1 98.96 0 No comment LIPT1 98.07 0 No comment LIPT2 97.11 0 No comment LITAF 99.34 0 No comment LMAN2L 99.15 0 No comment LMBRD1 96.71 0 No comment LMNA 98.89 0 No comment LMX1B 99.74 0 No comment LONP1 99.06 0 No comment LOXHD1 99.14 0 No comment LRAT 99.56 0 No comment LRP1 98.97 0 No comment LRP2 99.08 0 No comment LRP4 98.69 0 No comment LRP5 97.97 0 No comment LRPPRC 98.65 0 No comment LRRC32 99.45 0 No comment DNAAF11 99.52 0 No comment LRRK1 99.22 0 No comment LRRK2 98.24 0 No comment LSS 99.87 0 No comment LTBP2 98.85 0 No comment LTBP3 98.16 0 No comment LYRM7 95.36 0 No comment LYST 98.97 0 No comment LZTFL1 98.88 0 No comment LZTR1 99.05 0 No comment MAB21L1 99.89 0 No comment MAB21L2 99.46 0 No comment MACC1 99.56 0 No comment MACF1 98.64 0 No comment MADD 98.87 0 No comment MAF 78.51 0 No comment MAFB 99.20 0 No comment MAGEA11 99.42 0 No comment MAGEB1 99.65 0 No comment MAGEB10 99.72 0 No comment MAGEB2 99.51 0 No comment MAGEC1 98.27 0 No comment MAGEC3 96.41 0 No comment MAGED1 97.72 0 No comment MAGEL2 99.77 0 No comment MAGI2 92.15 0 No comment MAGIX 91.35 0 No comment MAGT1 95.72 0 No comment MAN1B1 97.68 0 No comment MAN2B1 98.69 0 No comment MANBA 98.99 0 No comment MAOA 92.59 0 No comment MAOB 96.46 0 No comment MAP1B 99.62 0 No comment MAP2K1 98.93 0 No comment MAP2K2 99.30 0 No comment MAP3K1 93.46 0 No comment MAP3K15 81.00 0 No comment MAP3K7 98.96 0 No comment MAP7D3 93.50 0 No comment MAPK10 99.23 0 No comment MAPK8IP3 99.17 0 No comment MAPRE2 99.34 0 No comment MAPT 99.44 0 No comment MASP1 99.32 0 No comment MAST1 98.94 0 No comment MAT1A 99.31 0 No comment MATN3 94.73 0 No comment MBD5 99.80 0 No comment MBNL3 97.64 0 No comment MBOAT7 99.23 0 No comment MBTPS2 97.35 0 No comment MC2R 99.83 0 No comment MCCC1 99.36 0 No comment MCCC2 99.42 0 No comment MCEE 99.73 0 No comment MCM3AP 99.17 0 No comment MCM9 99.49 0 No comment MCOLN1 98.09 0 No comment MCPH1 97.71 0 No comment MDH2 99.26 0 No comment MECP2 89.64 0 No comment MECR 98.83 0 No comment MED12 97.94 0 No comment MED12L 98.99 0 No comment MED13 98.50 0 No comment MED13L 99.39 0 No comment MED17 98.61 0 No comment MED23 98.85 0 No comment MED25 97.95 0 No comment MEF2C 99.19 0 No comment MEGF10 98.25 0 No comment MEGF8 99.01 0 No comment MEIS2 99.60 0 No comment MESP2 98.01 0 No comment MET 99.32 0 No comment METTL23 99.70 0 No comment METTL5 94.29 0 No comment MFF 98.90 0 No comment MFRP 98.32 0 No comment MFSD2A 98.61 0 No comment MFSD8 99.49 0 No comment MGAT2 99.31 0 No comment MGAT5B 98.30 0 No comment MGP 99.47 0 No comment MIB1 98.13 0 No comment MICU1 99.39 0 No comment MID1 98.26 0 No comment MITF 99.17 0 No comment MKKS 99.47 0 No comment MKS1 98.74 0 No comment MLC1 98.91 0 No comment MLH1 98.70 0 No comment MLYCD 94.43 0 No comment MMAA 98.59 0 No comment MMAB 99.44 0 No comment MMACHC 99.23 0 No comment MMADHC 98.97 0 No comment MMP13 98.47 0 No comment MMP21 97.96 0 No comment MN1 99.12 0 No comment MNX1 68.62 0 No comment MOCS1 99.12 0 No comment MOCS2 99.33 0 No comment MOGS 98.80 0 No comment MORC4 92.98 0 No comment MPDU1 97.72 0 No comment MPDZ 99.06 0 No comment MPI 99.09 0 No comment MPLKIP 99.41 0 No comment MPV17 99.32 0 No comment MPZ 99.26 0 No comment MRAP 99.40 0 No comment MRE11 98.82 0 No comment MRPS22 99.08 0 No comment MRPS34 97.34 0 No comment MSL3 95.17 0 No comment MSMO1 98.59 0 No comment MSX1 98.22 0 No comment MSX2 99.75 0 No comment MTF1 98.69 0 No comment MTFMT 98.17 0 No comment MTHFR 97.78 0 No comment MTM1 96.15 0 No comment MTMR1 88.31 0 No comment MTMR14 99.36 0 No comment MTMR2 98.85 0 No comment MTMR8 95.90 0 No comment MTO1 93.67 0 No comment MTOR 98.53 0 No comment MTPAP 98.83 0 No comment MTR 99.25 0 No comment MTRR 99.33 0 No comment MTTP 99.03 0 No comment MMUT 98.64 0 No comment MVK 99.52 0 No comment MXRA5 98.86 0 No comment MYBPC1 98.08 0 No comment MYCN 90.97 0 No comment MYH10 99.14 0 No comment MYH3 99.61 0 No comment MYH6 99.58 0 No comment MYH8 99.84 0 No comment MYH9 99.50 0 No comment MYO1D 99.24 0 No comment MYO1G 98.28 0 No comment MYO5A 98.89 0 No comment MYO5B 98.83 0 No comment MYO7A 99.30 0 No comment MYT1L 99.61 0 No comment NAA10 97.29 0 No comment NAA15 96.88 0 No comment NACC1 99.36 0 No comment NADK2 90.73 0 No comment NAGA 99.05 0 No comment NAGLU 92.35 0 No comment NAGS 99.13 0 No comment NALCN 99.30 0 No comment NANS 99.57 0 No comment NBAS 99.15 0 No comment NBEA 98.46 0 No comment NBN 98.71 0 No comment NCAPD2 99.26 0 No comment NCAPG2 98.85 0 No comment NCAPH 96.78 0 No comment NCKAP1 98.92 0 No comment NDE1 99.73 0 No comment NDN 97.93 0 No comment NDP 98.16 0 No comment NDRG1 99.86 0 No comment NDST1 99.02 0 No comment NDUFA1 98.51 0 No comment NDUFA10 99.01 0 No comment NDUFA11 90.58 0 No comment NDUFA12 99.80 0 No comment NDUFA9 98.99 0 No comment NDUFAF1 99.39 0 No comment NDUFAF2 98.80 0 No comment NDUFAF3 99.67 0 No comment NDUFAF5 99.09 0 No comment NDUFS1 98.99 0 No comment NDUFS2 97.41 0 No comment NDUFS3 99.78 0 No comment NDUFS4 97.48 0 No comment NDUFS7 99.69 0 No comment NDUFS8 98.57 0 No comment NDUFV1 99.26 0 No comment NEB 99.00 0 No comment NECAB2 87.19 0 No comment NECAP1 99.07 0 No comment NEDD4L 98.42 0 No comment NEK1 98.94 0 No comment NEU1 99.97 0 No comment NF1 98.44 0 No comment NFASC 98.10 0 No comment NFIA 97.99 0 No comment NFIB 98.14 0 No comment NFIX 97.92 0 No comment NFU1 99.67 0 No comment NGF 98.59 0 No comment NGLY1 99.36 0 No comment NHEJ1 99.58 0 No comment NHLRC1 99.86 0 No comment NHP2 99.45 0 No comment NHS 96.49 0 No comment NIPA1 90.55 0 No comment NIPBL 98.60 0 No comment NKAP 96.73 0 No comment NKX2-1 97.75 0 No comment NKX2-5 99.63 0 No comment NKX3-2 98.37 0 No comment NLGN3 98.40 0 No comment NLGN4X 99.13 0 No comment NLRP3 98.99 0 No comment NMNAT1 97.99 0 No comment NODAL 99.40 0 No comment NOG 99.12 0 No comment NONO 96.77 0 No comment NOP56 99.35 0 No comment NOTCH2 99.27 0 No comment NOVA2 89.97 0 No comment NPC1 98.89 0 No comment NPC2 99.66 0 No comment NPHP1 99.51 0 No comment NPHP3 98.74 0 No comment NPHP4 99.19 0 No comment NPHS1 99.44 0 No comment NPHS2 97.80 0 No comment NPR2 99.34 0 No comment NPR3 90.56 0 No comment NR1I3 99.14 0 No comment NR2F1 90.07 0 No comment NR2F2 98.87 0 No comment NR4A2 99.44 0 No comment NR5A1 97.66 0 No comment NRAS 98.92 0 No comment NRK 96.60 0 No comment NRROS 99.89 0 No comment NRXN1 99.17 0 No comment NRXN2 95.11 0 No comment NRXN3 99.23 0 No comment NSD1 98.92 0 No comment NSDHL 98.64 0 No comment NSF 98.09 0 No comment NSUN2 98.86 0 No comment NT5C2 98.94 0 No comment NT5C3A 98.92 0 No comment NTM 98.61 0 No comment NTNG1 99.58 0 No comment NTNG2 93.49 0 No comment NTRK1 98.79 0 No comment NTRK2 99.23 0 No comment NUBPL 99.17 0 No comment NUDT2 99.10 0 No comment NUP107 97.33 0 No comment NUP188 98.99 0 No comment NUP62 99.65 0 No comment NUS1 97.85 0 No comment NXF5 99.08 0 No comment NYX 92.34 0 No comment OBSL1 98.23 0 No comment OCLN 99.53 0 No comment OCRL 95.55 0 No comment ODC1 99.36 0 No comment ODF2L 97.74 0 No comment OFD1 93.09 0 No comment OGT 96.02 0 No comment OPA3 99.11 0 No comment OPHN1 93.40 0 No comment OR5M1 99.56 0 No comment ORC1 98.75 0 No comment ORC4 98.23 0 No comment ORC6 98.12 0 No comment OSGEP 99.20 0 No comment OTC 94.39 0 No comment OTOGL 91.23 0 No comment OTUD6B 97.21 0 No comment OTUD7A 84.64 0 No comment OTX2 99.74 0 No comment OXCT1 98.14 0 No comment P2RY4 99.46 0 No comment P2RY8 99.54 0 No comment P4HB 99.48 0 No comment P4HTM 95.19 0 No comment PABPC5 99.77 0 No comment PACS1 97.81 0 No comment PACS2 97.16 0 No comment PAFAH1B1 99.12 0 No comment PAH 99.36 0 No comment PAK1 89.41 0 No comment PAK3 93.85 0 No comment PALB2 99.35 0 No comment PANK2 98.65 0 No comment PAPSS2 97.09 0 No comment PRKN 99.61 0 No comment PARK7 98.71 0 No comment PARN 99.92 0 No comment PARP1 99.23 0 No comment PASD1 96.99 0 No comment PAX2 98.63 0 No comment PAX3 99.47 0 No comment PAX6 99.12 0 No comment PAX7 98.68 0 No comment PAX8 99.37 0 No comment PAX9 99.60 0 No comment PBRM1 99.04 0 No comment PBX1 98.79 0 No comment PC 99.26 0 No comment PCBD1 98.19 0 No comment PCCA 99.09 0 No comment PCCB 98.35 0 No comment PCDH10 99.56 0 No comment PCDH12 99.87 0 No comment PCDH19 99.27 0 No comment PCGF2 89.24 0 No comment PCLO 99.20 0 No comment PCNT 98.96 0 No comment PCYT1A 99.37 0 No comment PCYT2 93.96 0 No comment PDCD10 97.57 0 No comment PDE10A 99.49 0 No comment PDE4D 97.01 0 No comment PDE6D 99.57 0 No comment PDE6G 99.28 0 No comment PDGFB 99.27 0 No comment PDGFRB 98.98 0 No comment PDHA1 93.13 0 No comment PDHX 97.66 0 No comment PDSS1 88.79 0 No comment PDSS2 98.91 0 No comment PDYN 97.60 0 No comment PECR 98.78 0 No comment PEPD 99.16 0 No comment PET100 99.52 0 No comment PEX1 98.65 0 No comment PEX10 94.24 0 No comment PEX11B 98.16 0 No comment PEX12 98.98 0 No comment PEX13 99.29 0 No comment PEX14 99.37 0 No comment PEX16 99.69 0 No comment PEX19 98.79 0 No comment PEX2 99.69 0 No comment PEX26 98.07 0 No comment PEX3 98.18 0 No comment PEX5 98.49 0 No comment PEX6 98.82 0 No comment PEX7 98.38 0 No comment PGAP1 97.38 0 No comment PGAP2 99.62 0 No comment PGAP3 97.87 0 No comment PGK1 98.42 0 No comment PGM1 98.11 0 No comment PGM3 99.56 0 No comment PGRMC1 98.26 0 No comment PHACTR1 89.43 0 No comment PHC1 99.13 0 No comment PHF10 95.41 0 No comment PHF21A 98.68 0 No comment PHF6 87.29 0 No comment PHF8 98.16 0 No comment PHGDH 99.24 0 No comment PHIP 98.39 0 No comment PHKA1 96.26 0 No comment PHKA2 95.35 0 No comment PHKG2 99.76 0 No comment PHOX2B 94.35 0 No comment PIEZO2 98.61 0 No comment PIGA 96.21 0 No comment PIGB 99.29 0 No comment PIGC 99.49 0 No comment PIGG 99.35 0 No comment PIGH 99.72 0 No comment PIGK 97.34 0 No comment PIGL 99.60 0 No comment PIGN 97.35 0 No comment PIGO 99.30 0 No comment PIGP 97.65 0 No comment PIGQ 99.47 0 No comment PIGS 99.30 0 No comment PIGT 99.18 0 No comment PIGU 96.64 0 No comment PIGV 99.64 0 No comment PIGW 99.86 0 No comment PIGY 98.77 0 No comment PIK3C2A 98.95 0 No comment PIK3C3 98.08 0 No comment PIK3CA 98.58 0 No comment PIK3R1 98.70 0 No comment PIK3R2 92.16 0 No comment PIN4 94.34 0 No comment PINK1 96.58 0 No comment PITRM1 99.18 0 No comment PITX2 98.79 0 No comment PITX3 99.21 0 No comment PJA1 99.79 0 No comment PKD1L1 99.32 0 No comment PKHD1 99.32 0 No comment PLA2G6 99.38 0 No comment PLAA 99.25 0 No comment PLCB1 98.83 0 No comment PLCE1 98.80 0 No comment PLCXD1 96.54 0 No comment PLEC 99.59 0 No comment PLEKHG2 99.01 0 No comment PLK4 98.64 0 No comment PLOD1 98.15 0 No comment PLOD2 98.29 0 No comment PLOD3 98.92 0 No comment PLP1 98.91 0 No comment PLXNB3 98.08 0 No comment PMM2 97.92 0 No comment PMP22 99.70 0 No comment PMPCA 99.22 0 No comment PMPCB 98.76 0 No comment PMS2 98.73 0 No comment PNKD 99.01 0 No comment PNKP 99.38 0 No comment PNP 99.48 0 No comment PNPLA6 99.18 0 No comment PNPO 98.09 0 No comment PNPT1 98.94 0 No comment POC1A 98.69 0 No comment POC1B 98.91 0 No comment POGLUT1 99.01 0 No comment POGZ 99.08 0 No comment POLA1 93.70 0 No comment POLD1 99.32 0 No comment POLG 98.98 0 No comment POLR1C 99.42 0 No comment POLR1D 94.97 0 No comment POLR2A 93.09 0 No comment POLR3A 99.17 0 No comment POLR3B 98.52 0 No comment POMGNT1 98.91 0 No comment POMGNT2 99.93 0 No comment POMT1 99.40 0 No comment POMT2 98.43 0 No comment PORCN 98.49 0 No comment POU1F1 99.20 0 No comment POU3F3 72.47 0 No comment PPA2 98.38 0 No comment PPM1D 98.90 0 No comment PPOX 99.10 0 No comment PPP1CB 99.15 0 No comment PPP1R15B 99.76 0 No comment PPP1R1B 97.58 0 No comment PPP1R21 97.12 0 No comment PPP2CA 99.22 0 No comment PPP2R1A 99.53 0 No comment PPP2R2B 99.49 0 No comment PPP2R5D 99.23 0 No comment PPP3CA 97.94 0 No comment PPT1 99.42 0 No comment PQBP1 98.03 0 No comment PRDM12 87.59 0 No comment PRDX4 76.26 0 No comment PREPL 99.18 0 No comment PRICKLE1 99.56 0 No comment PRICKLE2 99.38 0 No comment PRICKLE3 96.71 0 No comment PRKAR1A 99.58 0 No comment PRKCG 99.43 0 No comment PRKD1 98.77 0 No comment PRKRA 99.26 0 No comment PRMT9 98.98 0 No comment PRMT7 98.06 0 No comment PRODH 98.11 0 No comment PROP1 99.63 0 No comment PLPBP 95.56 0 No comment PROX2 99.44 0 No comment PRPS1 95.38 0 No comment PRR12 98.27 0 No comment PRRG1 94.01 0 No comment PRRG3 97.85 0 No comment PRRT2 99.50 0 No comment PRSS12 99.22 0 No comment PRSS56 98.31 0 No comment PRUNE1 99.16 0 No comment PRX 99.79 0 No comment PSAP 99.57 0 No comment PSAT1 99.42 0 No comment PSEN1 99.47 0 No comment PSMA7 92.67 0 No comment PSMB8 99.96 0 No comment PSMD10 98.66 0 No comment PSMD12 99.46 0 No comment PSPH 99.39 0 No comment PTCH1 98.24 0 No comment PTCHD1 99.55 0 No comment PTDSS1 99.53 0 No comment PTEN 97.06 0 No comment PTF1A 84.73 0 No comment PTH1R 99.36 0 No comment PTHLH 99.63 0 No comment PTPN11 98.87 0 No comment PTPN21 99.21 0 No comment PTPN23 99.40 0 No comment PTRH2 99.69 0 No comment PTRHD1 99.61 0 No comment PTS 97.89 0 No comment PUF60 99.63 0 No comment PUM1 98.63 0 No comment PURA 95.31 0 No comment PUS1 93.61 0 No comment PUS3 99.35 0 No comment PUS7 99.26 0 No comment NECTIN1 99.41 0 No comment PYCR1 99.44 0 No comment PYCR2 98.91 0 No comment PYGL 99.15 0 No comment QARS1 99.24 0 No comment QDPR 99.29 0 No comment QKI 99.00 0 No comment QRICH1 99.47 0 No comment RAB11A 99.26 0 No comment RAB11B 99.79 0 No comment RAB18 98.52 0 No comment RAB23 98.94 0 No comment RAB27A 96.61 0 No comment RAB39B 99.40 0 No comment RAB3GAP1 98.90 0 No comment RAB3GAP2 99.12 0 No comment RAB40AL 99.76 0 No comment RABL6 99.51 0 No comment RAC1 98.23 0 No comment NCOA3 95.06 0 No comment RAD21 98.41 0 No comment RAD50 97.32 0 No comment RAD51 86.56 0 No comment RAD51C 98.85 0 No comment RAF1 99.16 0 No comment RAI1 99.61 0 No comment RALA 96.03 0 No comment RALGAPA1 98.41 0 No comment RALGDS 95.93 0 No comment RANBP17 98.36 0 No comment RANBP2 99.68 0 No comment RAPGEF1 99.41 0 No comment RAPSN 99.04 0 No comment RARB 99.38 0 No comment RARS1 97.45 0 No comment RARS2 99.01 0 No comment RASA1 97.27 0 No comment RAX 93.04 0 No comment RBBP8 97.45 0 No comment RBFOX1 97.68 0 No comment RBL2 98.08 0 No comment RBM10 97.07 0 No comment RBM28 99.52 0 No comment RBM8A 99.76 0 No comment RBPJ 99.63 0 No comment RECQL4 98.44 0 No comment REEP1 98.11 0 No comment REEP2 98.01 0 No comment RELN 99.14 0 No comment RENBP 93.79 0 No comment RERE 97.47 0 No comment RET 98.30 0 No comment RFT1 97.40 0 No comment RFX6 98.63 0 No comment RTL9 99.02 0 No comment RGN 96.72 0 No comment RGS7 99.42 0 No comment RHEB 99.03 0 No comment RHOBTB2 98.98 0 No comment RIMS1 98.15 0 No comment RIPK4 99.54 0 No comment RIT1 99.28 0 No comment RLIM 99.09 0 No comment RMND1 99.20 0 No comment RNASEH2A 99.80 0 No comment RNASEH2B 94.50 0 No comment RNASEH2C 99.62 0 No comment RNASET2 99.20 0 No comment RNF113A 99.44 0 No comment RNF125 98.59 0 No comment RNF13 97.23 0 No comment RNF135 98.54 0 No comment RNF168 99.46 0 No comment RNF216 99.40 0 No comment ROBO3 98.40 0 No comment ROGDI 96.44 0 No comment ROR2 97.79 0 No comment RORA 99.37 0 No comment RORB 99.16 0 No comment RPE65 99.50 0 No comment RPGR 91.56 0 No comment RPGRIP1 98.66 0 No comment RPGRIP1L 95.87 0 No comment RPIA 97.45 0 No comment RPL10 97.70 0 No comment RPS19 98.91 0 No comment RPS23 99.81 0 No comment RPS6KA3 91.96 0 No comment RRAS 94.70 0 No comment RRM2B 98.76 0 No comment RSPH1 99.58 0 No comment RSPH3 99.23 0 No comment RSPO4 99.59 0 No comment RSPRY1 98.70 0 No comment RSRC1 94.18 0 No comment RTEL1 99.53 0 No comment RTN2 99.37 0 No comment RTN4IP1 98.71 0 No comment RTTN 98.24 0 No comment RUNX2 99.01 0 No comment RUSC2 99.39 0 No comment RYR1 97.61 0 No comment RYR3 99.20 0 No comment SACS 99.78 0 No comment SALL1 99.82 0 No comment SALL4 99.82 0 No comment SAMD9 99.90 0 No comment SAMHD1 99.51 0 No comment SARS2 99.19 0 No comment SATB1 99.00 0 No comment SATB2 99.38 0 No comment SBDS 99.45 0 No comment SBF1 99.15 0 No comment SBF2 98.85 0 No comment SC5D 98.71 0 No comment SCAF4 98.85 0 No comment SCAMP5 99.20 0 No comment SCAPER 98.60 0 No comment SCARB2 99.18 0 No comment SCARF2 93.83 0 No comment SCN11A 98.88 0 No comment SCN1A 98.90 0 No comment SCN1B 95.08 0 No comment SCN2A 99.00 0 No comment SCN3A 99.17 0 No comment SCN4A 98.53 0 No comment SCN8A 96.15 0 No comment SCN9A 98.95 0 No comment SCO1 99.42 0 No comment SCO2 95.41 0 No comment SCRIB 99.36 0 No comment SCYL1 98.07 0 No comment SDCCAG8 99.21 0 No comment SDHA 98.78 0 No comment SDHAF1 95.67 0 No comment SEC23B 98.95 0 No comment SEC31A 98.89 0 No comment SEPSECS 98.34 0 No comment SERAC1 98.92 0 No comment SET 99.64 0 No comment SETBP1 96.95 0 No comment SETD1A 98.37 0 No comment SETD1B 95.43 0 No comment SETD2 99.04 0 No comment SETD5 99.01 0 No comment SETDB2 98.15 0 No comment SETX 99.48 0 No comment SF3B4 98.95 0 No comment SGCA 99.28 0 No comment SGCE 93.44 0 No comment SGPL1 98.02 0 No comment SGSH 99.56 0 No comment SH3PXD2B 98.34 0 No comment SH3TC2 99.47 0 No comment SHANK1 95.42 0 No comment SHANK2 95.90 0 No comment SHANK3 84.05 0 No comment SHH 97.41 0 No comment SHOC2 98.50 0 No comment SHOX 99.66 0 No comment SHROOM2 96.54 0 No comment SHROOM4 98.99 0 No comment SIGMAR1 99.83 0 No comment SIK1 99.55 0 No comment SIL1 99.44 0 No comment SIN3A 99.40 0 No comment SIX1 99.50 0 No comment SIX3 98.04 0 No comment SIX5 96.91 0 No comment SKI 94.70 0 No comment SKIC2 99.87 0 No comment SLC12A5 98.41 0 No comment SLC12A6 98.39 0 No comment SLC13A5 98.63 0 No comment SLC16A2 99.13 0 No comment SLC17A5 98.11 0 No comment SLC19A3 98.65 0 No comment SLC1A1 99.06 0 No comment SLC1A2 98.81 0 No comment SLC1A4 99.04 0 No comment SLC20A2 98.04 0 No comment SLC22A5 99.51 0 No comment SLC25A1 93.07 0 No comment SLC25A12 98.89 0 No comment SLC25A13 99.00 0 No comment SLC25A15 99.02 0 No comment SLC25A19 98.60 0 No comment SLC25A20 96.95 0 No comment SLC25A22 98.89 0 No comment SLC25A24 99.54 0 No comment SLC25A26 99.04 0 No comment SLC25A38 99.44 0 No comment SLC25A53 99.18 0 No comment SLC25A6 93.97 0 No comment SLC26A2 99.60 0 No comment SLC26A9 98.51 0 No comment SLC27A4 99.39 0 No comment SLC2A1 99.21 0 No comment SLC2A10 99.62 0 No comment SLC2A2 98.55 0 No comment SLC30A9 98.53 0 No comment SLC31A1 98.80 0 No comment SLC33A1 98.15 0 No comment SLC35A1 98.63 0 No comment SLC35A2 98.33 0 No comment SLC35A3 98.16 0 No comment SLC35C1 99.23 0 No comment SLC35D1 97.31 0 No comment SLC39A13 99.08 0 No comment SLC39A14 99.48 0 No comment SLC39A8 99.08 0 No comment SLC45A1 99.36 0 No comment SLC46A1 99.30 0 No comment SLC4A1 95.32 0 No comment SLC4A11 99.30 0 No comment SLC4A4 98.81 0 No comment SLC52A3 99.86 0 No comment SLC5A2 99.60 0 No comment SLC5A5 98.75 0 No comment SLC5A6 99.13 0 No comment SLC5A7 99.53 0 No comment SLC6A1 98.74 0 No comment SLC6A17 98.68 0 No comment SLC6A19 99.55 0 No comment SLC6A3 99.88 0 No comment SLC6A4 99.05 0 No comment SLC6A5 99.35 0 No comment SLC6A8 91.92 0 No comment SLC6A9 99.08 0 No comment SLC7A7 99.58 0 No comment SLC9A6 89.27 0 No comment SLC9A9 98.10 0 No comment SLX4 99.16 0 No comment SMAD3 98.93 0 No comment SMAD4 99.09 0 No comment SMARCA1 93.45 0 No comment SMARCA2 96.71 0 No comment SMARCA4 98.96 0 No comment SMARCAL1 99.40 0 No comment SMARCB1 99.67 0 No comment SMARCC1 98.91 0 No comment SMARCC2 98.49 0 No comment SMARCD1 98.02 0 No comment SMARCD2 89.27 0 No comment SMARCD3 95.19 0 No comment SMARCE1 99.13 0 No comment SMC1A 97.63 0 No comment SMC3 98.43 0 No comment SMCHD1 96.94 0 No comment SMG9 99.03 0 No comment SMO 97.34 0 No comment SMOC1 99.47 0 No comment SMPD1 99.59 0 No comment SMPD4 99.16 0 No comment SMS 93.00 0 No comment SNAP25 99.07 0 No comment SNAP29 97.81 0 No comment SNCA 99.88 0 No comment SNIP1 99.49 0 No comment SNRPB 99.04 0 No comment SNTG1 99.41 0 No comment SNX14 98.24 0 No comment SNX27 97.42 0 No comment SNX3 97.57 0 No comment SOBP 91.72 0 No comment SON 99.58 0 No comment SOS1 98.49 0 No comment SOS2 98.44 0 No comment SOX10 99.18 0 No comment SOX11 98.67 0 No comment SOX17 99.36 0 No comment SOX2 99.09 0 No comment SOX3 92.70 0 No comment SOX4 92.73 0 No comment SOX5 99.41 0 No comment SOX6 98.79 0 No comment SOX9 98.76 0 No comment SPAG1 92.96 0 No comment SPAST 98.37 0 No comment AFG2A 98.79 0 No comment SPECC1L 99.39 0 No comment SPEG 98.56 0 No comment SPG11 98.94 0 No comment SPART 99.65 0 No comment SPG21 99.56 0 No comment SPG7 97.12 0 No comment SPR 96.31 0 No comment SPRED1 99.02 0 No comment SPRTN 98.90 0 No comment SPRY3 99.98 0 No comment SPTAN1 98.92 0 No comment SPTBN2 99.21 0 No comment SPTLC1 99.27 0 No comment SPTLC2 97.79 0 No comment SRCAP 99.48 0 No comment SRD5A3 99.57 0 No comment SREBF2 98.39 0 No comment SRGAP3 99.31 0 No comment SRP54 98.17 0 No comment SRPX2 97.52 0 No comment SRY 49.45 0 No comment SSR4 96.62 0 No comment ST3GAL3 99.33 0 No comment ST3GAL5 95.14 0 No comment STAB2 99.01 0 No comment STAG1 98.53 0 No comment STAG2 88.40 0 No comment STAMBP 99.15 0 No comment STAR 98.82 0 No comment STARD8 98.62 0 No comment STAT1 99.43 0 No comment STAT5B 99.51 0 No comment STIL 99.10 0 No comment STRA6 98.39 0 No comment STRADA 98.02 0 No comment STS 94.96 0 No comment STT3A 99.15 0 No comment STT3B 97.48 0 No comment STUB1 98.49 0 No comment STX11 99.96 0 No comment STX1B 99.29 0 No comment STX3 99.34 0 No comment STXBP1 99.41 0 No comment SUCLG1 97.18 0 No comment SUFU 97.89 0 No comment SUMF1 99.40 0 No comment SUOX 99.68 0 No comment SURF1 97.97 0 No comment KMT5B 99.52 0 No comment SYN1 90.54 0 No comment SYNCRIP 99.53 0 No comment SYNE1 99.37 0 No comment SYNGAP1 97.57 0 No comment SYNJ1 98.62 0 No comment SYP 98.38 0 No comment SYT1 98.69 0 No comment SYT14 92.68 0 No comment SYTL4 95.73 0 No comment SYTL5 95.65 0 No comment SZT2 99.40 0 No comment TAB2 99.63 0 No comment TACO1 99.03 0 No comment TAF1 96.88 0 No comment TAF13 99.08 0 No comment TAF2 98.77 0 No comment TAF6 98.77 0 No comment TAF7L 96.34 0 No comment TANC2 99.08 0 No comment TANGO2 99.49 0 No comment TAOK1 98.85 0 No comment TARDBP 98.93 0 No comment TAT 99.63 0 No comment TAFAZZIN 98.45 0 No comment TBC1D20 96.79 0 No comment TBC1D23 96.93 0 No comment TBC1D24 99.04 0 No comment TBC1D7 99.38 0 No comment TBC1D8B 94.09 0 No comment TBCD 99.00 0 No comment TBCE 97.65 0 No comment TBCK 98.11 0 No comment TBL1XR1 99.36 0 No comment TBP 94.39 0 No comment TBR1 97.83 0 No comment TBX1 80.23 0 No comment TBX15 99.32 0 No comment TBX20 98.62 0 No comment TBX22 98.45 0 No comment TBX3 99.44 0 No comment TBX4 96.92 0 No comment TBX5 99.04 0 No comment TBXAS1 99.15 0 No comment TCEAL3 98.98 0 No comment TCF12 99.27 0 No comment TCF20 99.92 0 No comment TCF4 98.18 0 No comment TCN2 99.16 0 No comment TCOF1 98.98 0 No comment TCP10L2 96.65 0 No comment TCTN1 99.23 0 No comment TCTN2 98.51 0 No comment TCTN3 99.33 0 No comment TDP2 98.45 0 No comment TECPR2 97.98 0 No comment TECR 99.15 0 No comment TEK 98.69 0 No comment TELO2 98.42 0 No comment TENM1 97.40 0 No comment TERT 97.99 0 No comment TFAP2A 99.10 0 No comment TFAP2B 99.67 0 No comment TFB2M 97.77 0 No comment TFE3 97.18 0 No comment TFG 97.71 0 No comment TGDS 98.69 0 No comment TGFB1 98.69 0 No comment TGFB2 99.24 0 No comment TGFB3 98.80 0 No comment TGFBR1 94.44 0 No comment TGFBR2 99.42 0 No comment TGIF1 99.54 0 No comment TGM6 99.52 0 No comment TH 98.92 0 No comment THAP1 99.83 0 No comment THOC2 95.28 0 No comment THOC6 99.31 0 No comment THRA 98.88 0 No comment THRB 99.50 0 No comment THUMPD1 97.86 0 No comment TIMM50 99.61 0 No comment TIMM8A 98.50 0 No comment TINF2 99.50 0 No comment TK2 96.78 0 No comment TKT 97.27 0 No comment TKTL1 96.74 0 No comment TLK2 98.47 0 No comment TLR8 97.46 0 No comment TM4SF20 99.00 0 No comment TMCO1 94.77 0 No comment TMEM126B 97.26 0 No comment TMEM132E 98.50 0 No comment TMEM135 98.43 0 No comment TMEM165 94.88 0 No comment TMEM216 99.71 0 No comment TMEM231 99.23 0 No comment TMEM237 97.63 0 No comment TMEM240 99.05 0 No comment TMEM260 98.99 0 No comment RXYLT1 98.12 0 No comment TMEM67 96.82 0 No comment TMEM70 99.03 0 No comment TMLHE 95.63 0 No comment TMPRSS6 99.18 0 No comment TMTC3 98.30 0 No comment TMX2 99.71 0 No comment TNIK 98.61 0 No comment TNKS2 98.85 0 No comment TNPO2 99.19 0 No comment TNRC6B 99.23 0 No comment TOE1 99.29 0 No comment TOMM70 98.81 0 No comment TOR1A 99.40 0 No comment TP63 99.19 0 No comment TPH2 99.50 0 No comment TPK1 98.78 0 No comment TPP1 99.55 0 No comment TRAF7 99.15 0 No comment TRAIP 99.21 0 No comment TRAK1 99.03 0 No comment TRAPPC11 99.04 0 No comment TRAPPC12 99.42 0 No comment TRAPPC2 95.98 0 No comment TRAPPC4 99.44 0 No comment TRAPPC6A 98.87 0 No comment TRAPPC6B 98.72 0 No comment TRAPPC9 99.07 0 No comment TREX1 99.86 0 No comment TREX2 96.69 0 No comment TRHR 99.49 0 No comment TRIM32 99.91 0 No comment TRIM37 99.00 0 No comment TRIM8 98.75 0 No comment TRIO 96.38 0 No comment TRIP11 99.09 0 No comment TRIP12 98.93 0 No comment TRIP13 96.31 0 No comment TRIT1 99.11 0 No comment TRMT1 98.51 0 No comment TRMT10A 99.25 0 No comment TRPM1 99.80 0 No comment TRPM3 99.30 0 No comment TRPS1 99.67 0 No comment TRPV4 98.68 0 No comment TRRAP 98.54 0 No comment TSC1 99.22 0 No comment TSC2 98.76 0 No comment TSC22D3 98.85 0 No comment TSEN15 99.17 0 No comment TSEN2 99.38 0 No comment TSEN34 99.39 0 No comment TSEN54 96.81 0 No comment TSFM 91.27 0 No comment TSHB 99.78 0 No comment TSHR 99.48 0 No comment TSPAN7 97.97 0 No comment TSPAN8 98.82 0 No comment TTBK2 98.86 0 No comment TTC19 96.22 0 No comment SKIC3 99.15 0 No comment TTC5 99.03 0 No comment TTC7A 98.98 0 No comment TTC8 98.53 0 No comment TTI2 99.31 0 No comment TTN 99.43 0 No comment TTPA 96.73 0 No comment TTR 98.18 0 No comment TUBA1A 99.98 0 No comment TUBA8 99.57 0 No comment TUBAL3 99.75 0 No comment TUBB 99.92 0 No comment TUBB2A 99.92 0 No comment TUBB2B 99.64 0 No comment TUBB3 99.69 0 No comment TUBB4A 99.78 0 No comment TUBG1 99.68 0 No comment TUBGCP4 98.92 0 No comment TUBGCP6 99.55 0 No comment TUFM 99.36 0 No comment TUSC3 99.50 0 No comment TWIST1 87.92 0 No comment TWIST2 99.24 0 No comment TXNL4A 99.72 0 No comment TYR 99.29 0 No comment TYRP1 99.39 0 No comment UBA5 98.17 0 No comment UBE2A 88.22 0 No comment UBE3A 99.06 0 No comment UBE3B 98.65 0 No comment UBR1 99.11 0 No comment UBR4 98.90 0 No comment UBR7 97.01 0 No comment UBTF 99.61 0 No comment UFC1 99.37 0 No comment UFM1 99.16 0 No comment UGP2 98.46 0 No comment UGT1A1 99.45 0 No comment UMPS 98.48 0 No comment UNC13A 99.25 0 No comment UNC80 98.86 0 No comment UPB1 99.39 0 No comment UPF3B 94.60 0 No comment UQCRB 99.87 0 No comment UQCRQ 99.36 0 No comment UROC1 99.06 0 No comment UROS 99.56 0 No comment USB1 99.41 0 No comment USP18 99.79 0 No comment USP27X 99.46 0 No comment USP7 99.02 0 No comment USP9X 95.44 0 No comment UTP14A 97.77 0 No comment UVSSA 99.24 0 No comment VAMP1 96.99 0 No comment VAMP2 99.53 0 No comment VAMP7 96.50 0 No comment VARS1 99.74 0 No comment VDR 97.94 0 No comment CPAMD8 98.98 0 No comment VIPAS39 98.17 0 No comment VLDLR 99.08 0 No comment VPS11 99.39 0 No comment VPS13B 98.28 0 No comment VPS33B 99.23 0 No comment VPS35 99.22 0 No comment VPS51 99.19 0 No comment VPS53 97.29 0 No comment VRK1 98.70 0 No comment VSX2 98.36 0 No comment WAC 98.16 0 No comment WARS2 99.20 0 No comment WASF1 98.47 0 No comment WDFY3 99.10 0 No comment WDPCP 98.96 0 No comment WDR11 99.19 0 No comment WDR13 96.77 0 No comment WDR19 98.40 0 No comment WDR26 98.93 0 No comment DYNC2I2 98.79 0 No comment WDR35 99.09 0 No comment WDR37 99.18 0 No comment WDR4 98.27 0 No comment WDR45 97.90 0 No comment WDR45B 99.15 0 No comment DYNC2I1 98.85 0 No comment WDR62 99.01 0 No comment WDR73 99.05 0 No comment WDR81 99.65 0 No comment WFS1 99.63 0 No comment NSD2 99.05 0 No comment WIPI2 98.93 0 No comment WNK3 97.70 0 No comment WNT1 98.69 0 No comment WNT10B 98.91 0 No comment WNT3 99.00 0 No comment WNT4 93.68 0 No comment WNT5A 98.73 0 No comment WNT7A 99.49 0 No comment WRAP53 98.86 0 No comment WRN 98.36 0 No comment WT1 98.77 0 No comment WWC3 96.63 0 No comment WWOX 99.58 0 No comment XIAP 97.48 0 No comment XK 96.00 0 No comment XKRX 98.90 0 No comment XPA 99.29 0 No comment XPC 98.92 0 No comment XPNPEP3 99.18 0 No comment XRCC4 98.59 0 No comment XYLT1 90.22 0 No comment YAP1 98.22 0 No comment YARS1 99.78 0 No comment YWHAG 99.64 0 No comment YY1 98.44 0 No comment ZBTB11 99.16 0 No comment ZBTB16 99.58 0 No comment ZBTB18 98.72 0 No comment ZBTB20 99.54 0 No comment ZBTB24 99.82 0 No comment ZBTB40 99.17 0 No comment ZC3H14 98.92 0 No comment ZC4H2 96.37 0 No comment ZCCHC12 98.81 0 No comment ZCCHC8 92.04 0 No comment ZDHHC15 90.89 0 No comment ZDHHC9 97.43 0 No comment ZEB2 98.91 0 No comment ZFHX4 99.34 0 No comment ZFP57 99.93 0 No comment ZFX 98.98 0 No comment ZFYVE26 99.08 0 No comment ZIC1 99.80 0 No comment ZIC2 89.81 0 No comment ZIC3 99.00 0 No comment ZMIZ1 99.16 0 No comment ZMPSTE24 98.12 0 No comment ZMYM3 97.06 0 No comment ZMYM6 98.59 0 No comment ZMYND11 99.29 0 No comment ZMYND12 98.18 0 No comment ZNF142 99.52 0 No comment ZNF148 99.29 0 No comment ZNF292 99.59 0 No comment ZNF335 98.86 0 No comment ZNF41 99.12 0 No comment ZNF425 99.39 0 No comment ZNF462 99.73 0 No comment ZNF526 99.70 0 No comment ZNF592 99.65 0 No comment ZNF599 99.82 0 No comment ZNF674 98.90 0 No comment ZNF711 97.16 0 No comment ZNF713 99.38 0 No comment ZNF81 99.07 0 No comment ZSWIM6 88.76 0 No comment -
Nephropathies, hereditary (219 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACE 95.00 0 NM_000789.4 ACTN4 95.00 0 NM_004924.6 AGT 95.00 0 NM_001384479.1 AGTR1 95.00 0 NM_031850.4 AGXT 95.00 0 NM_000030.3 ALG5 95.00 0 NM_013338.5 ALG8 95.00 0 NM_024079.5 ALG9 95.00 0 NM_024740.2 AMN 95.00 0 NM_030943.4 ANKS6 95.00 0 NM_173551.5 ANLN 95.00 0 NM_018685.5 ANOS1 95.00 0 NM_000216.4 AP2S1 95.00 0 NM_004069.6 APOA1 95.00 0 NM_000039.3 APOA2 95.00 0 NM_001643.2 APOC2 95.00 0 NM_000483.5 APOE 95.00 0 NM_000041.4 APOL1 95.00 0 NM_003661.4 APRT 95.00 0 NM_000485.3 ARHGAP24 95.00 0 NM_001025616.3 ARHGDIA 95.00 0 NM_001185077.3 ATP6V0A4 95.00 0 NM_020632.3 ATP6V1B1 95.00 0 NM_001692.4 BMP4 95.00 0 NM_001202.6 BNC2 95.00 0 NM_017637.6 BSND 95.00 0 NM_057176.3 C3 95.00 0 NM_000064.4 CA2 95.00 0 NM_000067.3 CACNA1D 95.00 0 NM_000720.4 CACNA1H 95.00 0 NM_021098.3 CASR 95.00 0 NM_000388.4 CD2AP 95.00 0 NM_012120.3 CD46 95.00 0 NM_002389.4 CDC73 95.00 0 NM_024529.5 CDK20 95.00 0 NM_001039803.3 CEP164 95.00 0 NM_014956.5 CEP290 95.00 0 NM_025114.4 CEP83 95.00 0 NM_016122.3 CFB 95.00 0 NM_001710.6 CFH 95.00 0 NM_000186.4 CFHR1 95.00 0 NM_002113.3 CFHR3 95.00 0 NM_021023.6 CFHR5 95.00 0 NM_030787.4 CFI 95.00 0 NM_000204.5 CLCN2 95.00 0 NM_004366.6 CLCN5 95.00 0 NM_000084.5 CLCNKA 95.00 0 NM_004070.4 CLCNKB 95.00 0 NM_000085.5 CLDN10 95.00 0 NM_006984.5 CLDN16 95.00 0 NM_006580.4 CLDN19 95.00 0 NM_148960.3 CNNM2 95.00 0 NM_017649.5 COL4A1 95.00 0 NM_001845.6 COL4A3 95.00 0 NM_000091.5 COL4A4 95.00 0 NM_000092.5 COL4A5 95.00 0 NM_000495.5 COQ2 95.00 0 NM_015697.9 COQ6 95.00 0 NM_182476.3 COQ8B 95.00 0 NM_024876.4 CRB2 95.00 0 NM_173689.7 CTNS 95.00 0 NM_004937.3 CUBN 95.00 0 NM_001081.4 CUL3 95.00 0 NM_003590.5 CYP11B1 95.00 0 NM_000497.4 CYP11B2 95.00 0 NM_000498.3 CYP17A1 95.00 0 NM_000102.4 CYP24A1 95.00 0 NM_000782.5 DAAM2 95.00 0 NM_001201427.2 DGKE 95.00 0 NM_003647.3 DLEC1 95.00 0 NM_182643.3 DNAJB11 95.00 0 NM_016306.6 DSTYK 95.00 0 NM_015375.3 DZIP1L 95.00 0 NM_173543.3 EGF 95.00 0 NM_001963.6 EHHADH 95.00 0 NM_001966.4 EMP2 95.00 0 NM_001424.6 EYA1 95.00 0 NM_000503.6 FAM20A 95.00 0 NM_017565.4 FAN1 95.00 0 NM_014967.5 FAT1 95.00 0 NM_005245.4 FGA 95.00 0 NM_021871.4 FGF20 95.00 0 NM_019851.3 FGF23 95.00 0 NM_020638.3 FN1 95.00 0 NM_212482.4 FOXC1 95.00 0 NM_001453.3 FOXC2 95.00 0 NM_005251.3 FOXI1 95.00 0 NM_012188.5 FXYD2 95.00 0 NM_001680.5 GANAB 95.00 0 NM_198335.4 GATA3 95.00 0 NM_001002295.2 GATM 95.00 0 NM_001482.3 GDNF 95.00 0 NM_000514.4 GLA 95.00 0 NM_000169.3 GLIS2 95.00 0 NM_032575.3 GNA11 95.00 0 NM_002067.5 GREB1L 95.00 0 NM_001142966.3 GRHPR 95.00 0 NM_012203.2 GRIP1 95.00 0 NM_021150.4 GSN 95.00 0 NM_000177.5 HNF1A 95.00 0 NM_000545.8 HNF1B 95.00 0 NM_000458.4 HNF4A 95.00 0 NM_175914.5 HOGA1 95.00 0 NM_138413.4 HOXA13 95.00 0 NM_000522.5 HPRT1 95.00 0 NM_000194.3 HSD11B2 95.00 0 NM_000196.4 IFT140 95.00 0 NM_014714.4 IFT81 95.00 0 NM_014055.4 INF2 95.00 0 NM_022489.4 INVS 95.00 0 NM_014425.5 ITGA8 95.00 0 NM_003638.3 ITSN1 95.00 0 NM_003024.3 ITSN2 95.00 0 NM_147152.3 JAG1 95.00 0 NM_000214.3 KANK2 95.00 0 NM_001136191.3 KCNA1 95.00 0 NM_000217.3 KCNJ1 95.00 0 NM_000220.6 KCNJ10 95.00 0 NM_002241.5 KCNJ5 95.00 0 NM_000890.5 KIRREL1 95.00 0 NM_018240.7 KL 95.00 0 NM_004795.4 KLHL3 95.00 0 NM_017415.3 LAMB2 95.00 0 NM_002292.4 LCAT 95.00 0 NM_000229.2 LDHD 95.00 0 NM_153486.4 LHX1 95.00 0 NM_005568.5 LIFR 95.00 0 NM_002310.6 LMX1B 95.00 0 NM_002316.4 LYZ 95.00 0 NM_000239.3 MAGED2 95.00 0 NM_177433.3 MAGI2 95.00 0 NM_012301.4 MAPKBP1 95.00 0 NM_001128608.2 MMACHC 95.00 0 NM_015506.3 MOCOS 95.00 0 NM_017947.4 MTX2 95.00 0 NM_006554.5 MUC1 95.00 0 NM_002456.6 MYH9 95.00 0 NM_002473.6 MYO1E 95.00 0 NM_004998.4 NEK8 95.00 0 NM_178170.3 NOTCH2 95.00 0 NM_024408.4 NPHP1 95.00 0 NM_000272.5 NPHP3 95.00 0 NM_153240.5 NPHP4 95.00 0 NM_015102.5 NPHS1 95.00 0 NM_004646.4 NPHS2 95.00 0 NM_014625.4 NR3C1 95.00 0 NM_001018077.1 NR3C2 95.00 0 NM_000901.5 NUP107 95.00 0 NM_020401.4 NUP133 95.00 0 NM_018230.3 NUP160 95.00 0 NM_015231.3 NUP85 95.00 0 NM_024844.5 NUP93 95.00 0 NM_014669.5 OCRL 95.00 0 NM_000276.4 OFD1 95.00 0 NM_003611.3 PAX2 95.00 0 NM_003987.5 PBX1 95.00 0 NM_002585.4 PCBD1 95.00 0 NM_000281.4 PDSS2 95.00 0 NM_020381.4 PHEX 95.00 0 NM_000444.6 PKD1 95.00 0 NM_001009944.3 PKD2 95.00 0 NM_000297.4 PKHD1 95.00 0 NM_138694.4 PLCE1 95.00 0 NM_016341.4 PODXL 95.00 0 NM_005397.4 PRPS1 95.00 0 NM_002764.4 PTPRO 95.00 0 NM_030667.3 REN 95.00 0 NM_000537.4 RET 95.00 0 NM_020975.6 ROBO2 95.00 0 NM_002942.5 SALL1 95.00 0 NM_002968.3 SARS2 95.00 0 NM_017827.4 SCARB2 95.00 0 NM_005506.4 SCNN1A 95.00 0 NM_001038.6 SCNN1B 95.00 0 NM_000336.3 SCNN1G 95.00 0 NM_001039.4 SDCCAG8 95.00 0 NM_006642.5 SEC61A1 95.00 0 NM_013336.4 SGPL1 95.00 0 NM_003901.4 SIX1 95.00 0 NM_005982.4 SIX5 95.00 0 NM_175875.5 SLC12A1 95.00 0 NM_000338.3 SLC12A3 95.00 0 NM_000339.3 SLC22A12 95.00 0 NM_144585.4 SLC26A1 95.00 0 NM_213613.4 SLC2A2 95.00 0 NM_000340.2 SLC2A9 95.00 0 NM_020041.3 SLC34A1 95.00 0 NM_003052.5 SLC34A3 95.00 0 NM_080877.3 SLC3A1 95.00 0 NM_000341.4 SLC4A1 95.00 0 NM_000342.4 SLC4A4 95.00 0 NM_003759.4 SLC5A2 95.00 0 NM_003041.4 SLC7A9 95.00 0 NM_014270.5 SLIT2 95.00 0 NM_004787.4 SMARCAL1 95.00 0 NM_014140.4 TBC1D1 95.00 0 NM_015173.4 TBC1D8B 95.00 0 NM_017752.3 TBX18 95.00 0 NM_001080508.3 TNS2 95.00 0 NM_015319.2 TRAF3IP1 95.00 0 NM_015650.4 TRAP1 95.00 0 NM_016292.3 TRIM8 95.00 0 NM_030912.3 TRPC6 95.00 0 NM_004621.6 TRPM6 95.00 0 NM_017662.5 TSC1 95.00 0 NM_000368.5 TSC2 95.00 0 NM_000548.5 TTC21B 95.00 0 NM_024753.5 TTR 95.00 0 NM_000371.4 UMOD 95.00 0 NM_003361.4 VHL 95.00 0 NM_000551.4 WDR19 95.00 0 NM_025132.4 WDR72 95.00 0 NM_182758.4 WFS1 95.00 0 NM_006005.3 WNK1 95.00 0 NM_018979.4 WNK4 95.00 0 NM_032387.5 WNT4 95.00 0 NM_030761.5 WT1 95.00 0 NM_024426.6 XDH 95.00 0 NM_000379.4 XPNPEP3 95.00 0 NM_022098.4 -
Nephropathy panel - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACE 99.98 1 ACTG2 99.99 1 ACTN4 100.00 1 ADAMTS13 100.00 1 ADAMTS9 99.94 1 ADCY10 99.77 1 AGXT 100.00 1 AGTR1 99.97 1 AHI1 99.86 1 ALDOB 100.00 1 ALG1 86.66 1 ALG8 95.49 1 ALG9 99.73 1 ALMS1 99.90 1 ALPL 99.88 1 ABCD1 100.00 1 ANKS6 100.00 1 ANLN 99.85 1 ANOS1 99.96 1 AP2S1 99.98 1 APOA1 100.00 1 APOA2 99.84 1 APOL1 99.99 1 APRT 100.00 1 AQP2 100.00 1 ARHGAP24 99.86 1 ARHGDIA 100.00 1 ARL13B 99.53 1 ARL6 99.90 1 ARSA 99.99 1 ATP6V0A4 99.93 1 ATP6V1B1 99.98 1 ATP7B 100.00 1 NLRP3 100.00 1 AVPR2 100.00 1 B9D1 99.80 1 B9D2 99.88 1 BBIP1 99.99 1 BBS1 100.00 1 BBS10 99.98 1 BBS12 100.00 1 BBS2 99.90 1 BBS4 99.88 1 BBS5 99.00 1 BBS7 99.42 1 BBS9 99.75 1 BICC1 99.76 1 BMP4 100.00 1 BMP7 100.00 1 BSND 99.92 1 C3 100.00 1 C5 99.92 1 CA2 99.62 1 CACNA1S 99.96 1 CASR 99.99 1 CC2D2A 99.95 1 CCDC39 99.74 1 CCNQ 99.98 1 CD151 100.00 1 CD2AP 99.69 1 CD46 99.86 1 CDC5L 99.83 1 CDKN1C 100.00 1 CEP104 99.99 1 CEP120 99.90 1 CEP164 99.99 1 CEP290 98.10 1 CEP41 99.99 1 CEP83 98.68 1 CFAP418 100.00 1 CFB 99.97 1 CFH 99.12 1 CFHR1 84.44 1 CFHR2 90.26 1 CFHR3 91.62 1 CFHR4 99.86 1 CFHR5 99.68 1 CFI 99.87 1 CHD1L 98.53 1 CHD7 99.99 1 CHRM3 100.00 1 CHRNA3 99.95 1 CLCN5 99.67 1 CLCN7 99.99 1 CLCNKA 99.98 1 CLCNKB 99.98 1 CLDN10 99.97 1 CLDN16 99.98 1 CLDN19 99.02 1 CNNM2 99.94 1 COL4A1 99.99 1 COL4A3 99.94 1 COL4A4 99.95 1 COL4A5 99.64 1 COQ2 99.90 1 COQ6 99.94 1 COQ7 100.00 1 COQ8A 100.00 1 COQ8B 99.94 1 COQ9 99.62 1 CPLANE1 99.81 1 CPT2 99.65 1 CRB2 99.95 1 CSPP1 98.31 1 CTNS 100.00 1 CUBN 99.99 1 CUL3 99.76 1 CYP11B2 100.00 1 CYP24A1 100.00 1 DAAM2 99.99 1 DCDC2 99.96 1 DGKE 99.10 1 DMP1 99.99 1 DNAJB11 99.97 1 DSTYK 99.83 1 DYNC2H1 99.66 1 DYNC2I1 99.99 1 DZIP1L 98.46 1 EGF 99.96 1 EGFR 99.68 1 EHHADH 99.99 1 EMP2 100.00 1 ENPP1 99.88 1 EVC 99.95 1 EVC2 99.97 1 EYA1 99.81 1 FANCA 99.98 1 FAHD2A 100.00 1 FAM186B 99.99 1 FAM20A 100.00 1 FAN1 99.73 1 FAT1 99.99 1 FGA 99.98 1 FGF20 99.71 1 FGF23 100.00 1 FGFR1 100.00 1 FH 99.95 1 FLCN 99.51 1 FN1 99.95 1 FRAS1 99.97 1 FREM1 99.98 1 FREM2 99.97 1 FXYD2 100.00 1 G6PC1 99.93 1 GALNT3 99.52 1 GALT 100.00 1 GANAB 99.97 1 GATA3 99.96 1 GATM 99.92 1 GDNF 99.99 1 GLA 99.90 1 GLI3 100.00 1 GLIS2 100.00 1 GNA11 99.99 1 GON7 99.92 1 GPC3 99.60 1 GRHPR 99.93 1 GRIP1 99.83 1 GSN 99.93 1 HNF1B 100.00 1 HNF4A 100.00 1 HOGA1 100.00 1 HPRT1 97.80 1 HPSE2 100.00 1 HSD11B2 99.99 1 IFT122 99.98 1 IFT140 100.00 1 IFT172 99.98 1 IFT27 100.00 1 IFT43 99.97 1 IFT80 99.69 1 IFT81 94.64 1 INCENP 99.99 1 INF2 99.99 1 INPP5E 99.85 1 INVS 99.94 1 IQCB1 99.72 1 ITGA3 99.86 1 ITGA8 99.95 1 ITGB4 99.99 1 JAG1 100.00 1 KANK1 99.99 1 KANK2 99.99 1 KANK4 99.70 1 KCNA1 100.00 1 KCNJ1 100.00 1 KCNJ10 99.98 1 KIAA0586 95.75 1 KIF14 97.80 1 KIF7 100.00 1 KL 99.98 1 KLHL3 99.97 1 LAGE3 99.99 1 LAMB2 99.99 1 LMNA 99.96 1 LMX1B 100.00 1 LRIG2 97.97 1 LRP2 99.86 1 LRP5 99.95 1 LRP6 99.91 1 LYZ 99.86 1 LZTFL1 100.00 1 MAGED2 99.98 1 MAGI2 99.89 1 MAPKBP1 99.98 1 MET 99.97 1 MKKS 100.00 1 MKS1 99.92 1 MMACHC 99.98 1 MUC1 99.98 1 MYH9 99.95 1 MYO1E 99.94 1 NEIL1 99.99 1 NEK1 99.83 1 NEK9 99.99 1 NOTCH2 99.03 1 NPHP1 99.05 1 NPHP3 99.89 1 NPHP4 99.98 1 NPHS1 99.97 1 NPHS2 99.87 1 NR3C2 100.00 1 NUP107 97.46 1 NUP133 99.45 1 NUP205 99.92 1 NUP93 99.87 1 NXF5 96.29 1 OCRL 99.89 1 OFD1 99.68 1 PAX2 99.99 1 PAX8 99.99 1 PBX1 99.88 1 PCBD1 99.84 1 PDE6D 99.94 1 PDSS1 95.70 1 PDSS2 99.87 1 PHEX 99.83 1 PKD1 99.98 1 PKD2 99.91 1 PKHD1 99.95 1 PLCE1 99.98 1 PLG 99.89 1 PMM2 99.93 1 PRKCSH 99.99 1 PSAP 99.94 1 PTEN 99.89 1 PTPRO 99.91 1 PYGM 99.96 1 RBM48 99.09 1 RCOR1 99.97 1 REN 99.85 1 RET 99.97 1 ROBO2 99.80 1 RPGRIP1 99.95 1 RPGRIP1L 96.35 1 RRM2B 99.97 1 SALL1 100.00 1 SALL4 100.00 1 SARS2 99.99 1 SCARB2 99.99 1 SCNN1A 100.00 1 SCNN1B 99.38 1 SCNN1G 99.94 1 SDCCAG8 100.00 1 SDHB 97.32 1 SDHD 82.93 1 SEC61A1 99.99 1 SEC63 99.84 1 SGPL1 99.95 1 SIX1 100.00 1 SIX2 100.00 1 SIX5 100.00 1 SLC12A1 99.90 1 SLC12A3 99.84 1 SLC22A12 99.99 1 SLC26A1 100.00 1 SLC26A3 99.97 1 SLC2A2 99.96 1 SLC2A9 99.98 1 SLC34A1 99.99 1 SLC34A3 100.00 1 SLC37A4 99.90 1 SLC3A1 99.98 1 SLC41A1 99.98 1 SLC4A1 99.94 1 SLC4A4 99.97 1 SLC7A9 99.97 1 NHERF1 100.00 1 SMARCAL1 99.97 1 SOX17 100.00 1 SRGAP1 99.68 1 STRADA 99.98 1 STX16 100.00 1 SYNPO 100.00 1 TBC1D1 99.96 1 TBC1D8B 99.31 1 TBX18 99.50 1 TCTN1 99.92 1 TCTN2 99.99 1 TCTN3 99.92 1 THBD 100.00 1 TMEM107 100.00 1 TMEM138 100.00 1 TMEM216 99.98 1 TMEM231 88.88 1 TMEM237 99.30 1 TMEM67 99.69 1 TNFRSF25 99.98 1 TNXB 90.86 1 TP53RK 81.09 1 TRAP1 100.00 1 TRIM32 100.00 1 TRPC6 99.99 1 TRPM6 99.93 1 TSC1 99.99 1 TSC2 99.98 1 TTC21B 99.50 1 TTC8 99.67 1 UMOD 99.98 1 UPK3A 100.00 1 UPK3B 99.62 1 VDR 99.86 1 VHL 100.00 1 VIPAS39 99.87 1 VPS33B 99.95 1 WDPCP 99.87 1 WDR19 99.80 1 WDR35 99.92 1 WDR4 99.95 1 WDR73 99.92 1 WNK1 99.98 1 WNK4 99.98 1 WNT4 99.94 1 WT1 99.99 1 XDH 99.97 1 XPNPEP3 99.99 1 XPO5 99.89 1 YRDC 99.85 1 ZMPSTE24 98.70 1 ZMYM2 99.88 1 ZNF423 98.94 1 -
Neurodevelopmental disorders (1300 genes) - ULB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments A2ML1 100.00 0 Neurodevelopmental disorders ABCC6 99.95 0 Neurodevelopmental disorders ABCC9 99.93 0 Neurodevelopmental disorders ABCD1 97.56 0 Neurodevelopmental disorders ABCD4 100.00 0 Neurodevelopmental disorders ABCG5 99.99 0 Neurodevelopmental disorders ABHD5 99.85 0 Neurodevelopmental disorders ABI2 100.00 0 Neurodevelopmental disorders ACAD9 100.00 0 Neurodevelopmental disorders ACAT1 93.45 0 Neurodevelopmental disorders ACO2 100.00 0 Neurodevelopmental disorders ACOX1 100.00 0 Neurodevelopmental disorders ACSF3 99.86 0 Neurodevelopmental disorders ACSL4 99.98 0 Neurodevelopmental disorders ACTB 100.00 0 Neurodevelopmental disorders ACTG1 100.00 0 Neurodevelopmental disorders ACVR1 100.00 0 Neurodevelopmental disorders ACY1 100.00 0 Neurodevelopmental disorders ADAR 100.00 0 Neurodevelopmental disorders ADAT3 99.45 0 Neurodevelopmental disorders COQ8A 99.92 0 Neurodevelopmental disorders ADCY5 99.17 0 Neurodevelopmental disorders ADK 100.00 0 Neurodevelopmental disorders ADNP 100.00 0 Neurodevelopmental disorders ADORA1 100.00 0 Neurodevelopmental disorders ADRA2B 100.00 0 Neurodevelopmental disorders ADSL 100.00 0 Neurodevelopmental disorders AFF2 99.91 0 Neurodevelopmental disorders AFF3 100.00 0 Neurodevelopmental disorders AFP 100.00 0 Neurodevelopmental disorders AGA 100.00 0 Neurodevelopmental disorders AGAP2 98.60 0 Neurodevelopmental disorders AGBL4 100.00 0 Neurodevelopmental disorders AGL 100.00 0 Neurodevelopmental disorders AGPAT2 93.10 0 Neurodevelopmental disorders AGXT 100.00 0 Neurodevelopmental disorders AGTR2 100.00 0 Neurodevelopmental disorders AHCY 100.00 0 Neurodevelopmental disorders AHDC1 99.99 0 Neurodevelopmental disorders AHI1 100.00 0 Neurodevelopmental disorders AIFM1 99.98 0 Neurodevelopmental disorders AIMP1 99.97 0 Neurodevelopmental disorders AIMP2 96.68 0 Neurodevelopmental disorders AK1 100.00 0 Neurodevelopmental disorders AKT1 100.00 0 Neurodevelopmental disorders AKT3 100.00 0 Neurodevelopmental disorders ALDH18A1 100.00 0 Neurodevelopmental disorders ALDH3A2 99.94 0 Neurodevelopmental disorders ALDH4A1 96.50 0 Neurodevelopmental disorders ALDH5A1 84.13 0 Neurodevelopmental disorders ALG1 78.28 0 Neurodevelopmental disorders ALG11 100.00 0 Neurodevelopmental disorders ALG12 100.00 0 Neurodevelopmental disorders ALG13 99.53 0 Neurodevelopmental disorders ALG2 99.83 0 Neurodevelopmental disorders ALG3 93.20 0 Neurodevelopmental disorders ALG6 100.00 0 Neurodevelopmental disorders ALG9 98.18 0 Neurodevelopmental disorders ALX1 100.00 0 Neurodevelopmental disorders ALX4 98.04 0 Neurodevelopmental disorders AMER1 99.97 0 Neurodevelopmental disorders AMPD2 99.90 0 Neurodevelopmental disorders AMT 100.00 0 Neurodevelopmental disorders ANK2 99.99 0 Neurodevelopmental disorders ANK3 100.00 0 Neurodevelopmental disorders ANKH 100.00 0 Neurodevelopmental disorders ANKRD11 100.00 0 Neurodevelopmental disorders ANO10 100.00 0 Neurodevelopmental disorders ANO3 100.00 0 Neurodevelopmental disorders ANO5 100.00 0 Neurodevelopmental disorders ANTXR1 99.97 0 Neurodevelopmental disorders AP1S1 100.00 0 Neurodevelopmental disorders AP1S2 100.00 0 Neurodevelopmental disorders AP3B1 100.00 0 Neurodevelopmental disorders AP4B1 100.00 0 Neurodevelopmental disorders AP4E1 99.99 0 Neurodevelopmental disorders AP4M1 100.00 0 Neurodevelopmental disorders AP4S1 100.00 0 Neurodevelopmental disorders APAF1 100.00 0 Neurodevelopmental disorders APC 100.00 0 Neurodevelopmental disorders APOB 98.90 0 Neurodevelopmental disorders APTX 99.96 0 Neurodevelopmental disorders AQP7 99.59 0 Neurodevelopmental disorders AR 100.00 0 Neurodevelopmental disorders ARFGEF2 100.00 0 Neurodevelopmental disorders ARG1 100.00 0 Neurodevelopmental disorders ARHGAP11A 100.00 0 Neurodevelopmental disorders ARHGAP24 99.97 0 Neurodevelopmental disorders ARHGEF2 100.00 0 Neurodevelopmental disorders ARHGEF4 99.85 0 Neurodevelopmental disorders ARHGEF6 100.00 0 Neurodevelopmental disorders ARHGEF9 99.92 0 Neurodevelopmental disorders ARID1A 97.21 0 Neurodevelopmental disorders ARID1B 98.17 0 Neurodevelopmental disorders ARL13B 99.98 0 Neurodevelopmental disorders ARL3 99.80 0 Neurodevelopmental disorders ARL6 100.00 0 Neurodevelopmental disorders ARMC9 100.00 0 Neurodevelopmental disorders ARSL 99.92 0 Neurodevelopmental disorders ARX 88.86 0 Neurodevelopmental disorders ASH1L 100.00 0 Neurodevelopmental disorders ASL 99.96 0 Neurodevelopmental disorders ASNS 97.93 0 Neurodevelopmental disorders ASPA 100.00 0 Neurodevelopmental disorders ASPM 100.00 0 Neurodevelopmental disorders ASS1 98.12 0 Neurodevelopmental disorders ASTN2 98.47 0 Neurodevelopmental disorders ASXL1 99.93 0 Neurodevelopmental disorders ASXL3 100.00 0 Neurodevelopmental disorders ATG5 100.00 0 Neurodevelopmental disorders ATIC 97.39 0 Neurodevelopmental disorders ATL1 99.89 0 Neurodevelopmental disorders ATM 100.00 0 Neurodevelopmental disorders ATP13A2 98.30 0 Neurodevelopmental disorders ATP1A2 99.94 0 Neurodevelopmental disorders ATP2A2 100.00 0 Neurodevelopmental disorders ATP6AP2 98.57 0 Neurodevelopmental disorders ATP6V0A2 99.97 0 Neurodevelopmental disorders ATP7A 100.00 0 Neurodevelopmental disorders ATP8A2 99.91 0 Neurodevelopmental disorders ATRX 99.89 0 Neurodevelopmental disorders ATXN1 100.00 0 Neurodevelopmental disorders ATXN7 98.67 0 Neurodevelopmental disorders AUH 99.24 0 Neurodevelopmental disorders AUTS2 99.82 0 Neurodevelopmental disorders NLRP3 100.00 0 Neurodevelopmental disorders AVPR2 99.37 0 Neurodevelopmental disorders AXIN1 100.00 0 Neurodevelopmental disorders AXL 100.00 0 Neurodevelopmental disorders B3GLCT 94.30 0 Neurodevelopmental disorders B4GAT1 99.99 0 Neurodevelopmental disorders B4GALT1 100.00 0 Neurodevelopmental disorders B4GALT7 90.50 0 Neurodevelopmental disorders BBS1 100.00 0 Neurodevelopmental disorders BBS10 100.00 0 Neurodevelopmental disorders BBS12 100.00 0 Neurodevelopmental disorders BBS2 100.00 0 Neurodevelopmental disorders BBS4 99.97 0 Neurodevelopmental disorders BBS5 100.00 0 Neurodevelopmental disorders BBS7 99.99 0 Neurodevelopmental disorders BBS9 99.93 0 Neurodevelopmental disorders BCKDHA 99.90 0 Neurodevelopmental disorders BCKDHB 100.00 0 Neurodevelopmental disorders BCL11A 100.00 0 Neurodevelopmental disorders BCOR 99.79 0 Neurodevelopmental disorders BCS1L 100.00 0 Neurodevelopmental disorders BIN1 99.94 0 Neurodevelopmental disorders BIRC6 99.99 0 Neurodevelopmental disorders BLM 100.00 0 Neurodevelopmental disorders BRAF 96.83 0 Neurodevelopmental disorders BRCA2 100.00 0 Neurodevelopmental disorders BRD4 99.43 0 Neurodevelopmental disorders BRF1 93.75 0 Neurodevelopmental disorders BRIP1 100.00 0 Neurodevelopmental disorders BRWD3 99.91 0 Neurodevelopmental disorders BSCL2 100.00 0 Neurodevelopmental disorders BTD 100.00 0 Neurodevelopmental disorders BUB1B 100.00 0 Neurodevelopmental disorders TSPOAP1 99.52 0 Neurodevelopmental disorders TWNK 100.00 0 Neurodevelopmental disorders C12ORF57 100.00 0 Neurodevelopmental disorders MTRFR 100.00 0 Neurodevelopmental disorders DIPK2A 98.86 0 Neurodevelopmental disorders CPLANE1 100.00 0 Neurodevelopmental disorders CARNMT1 97.76 0 Neurodevelopmental disorders CA2 99.97 0 Neurodevelopmental disorders CA8 100.00 0 Neurodevelopmental disorders CACNA1A 99.53 0 Neurodevelopmental disorders CACNA1B 99.04 0 Neurodevelopmental disorders CACNA1C 99.97 0 Neurodevelopmental disorders CACNA1D 99.81 0 Neurodevelopmental disorders CACNA1F 99.02 0 Neurodevelopmental disorders CACNA1G 99.97 0 Neurodevelopmental disorders CACNA1H 98.10 0 Neurodevelopmental disorders CACNA2D3 99.31 0 Neurodevelopmental disorders CACNB2 100.00 0 Neurodevelopmental disorders CACNG2 100.00 0 Neurodevelopmental disorders CACNG7 99.94 0 Neurodevelopmental disorders CALM1 100.00 0 Neurodevelopmental disorders CAMTA1 99.98 0 Neurodevelopmental disorders CANT1 100.00 0 Neurodevelopmental disorders CAPN12 100.00 0 Neurodevelopmental disorders CASK 99.99 0 Neurodevelopmental disorders CBL 100.00 0 Neurodevelopmental disorders CBS 99.85 0 Neurodevelopmental disorders CC2D1A 99.45 0 Neurodevelopmental disorders CC2D2A 100.00 0 Neurodevelopmental disorders CCAR2 99.98 0 Neurodevelopmental disorders CCBE1 99.32 0 Neurodevelopmental disorders CFAP53 100.00 0 Neurodevelopmental disorders CCDC174 100.00 0 Neurodevelopmental disorders CCDC22 97.87 0 Neurodevelopmental disorders CCDC39 100.00 0 Neurodevelopmental disorders CCDC78 100.00 0 Neurodevelopmental disorders CCDC88C 99.64 0 Neurodevelopmental disorders CCNT1 100.00 0 Neurodevelopmental disorders CCSER1 100.00 0 Neurodevelopmental disorders CD163L1 99.94 0 Neurodevelopmental disorders CDC42BPB 99.67 0 Neurodevelopmental disorders CDH11 100.00 0 Neurodevelopmental disorders CDH15 94.37 0 Neurodevelopmental disorders CDK5RAP2 100.00 0 Neurodevelopmental disorders CDKL5 99.77 0 Neurodevelopmental disorders CDKN1C 85.53 0 Neurodevelopmental disorders CDON 100.00 0 Neurodevelopmental disorders CELSR1 95.69 0 Neurodevelopmental disorders CENPJ 100.00 0 Neurodevelopmental disorders CEP135 99.96 0 Neurodevelopmental disorders CEP152 100.00 0 Neurodevelopmental disorders CEP290 100.00 0 Neurodevelopmental disorders CEP41 100.00 0 Neurodevelopmental disorders CEP57 100.00 0 Neurodevelopmental disorders CHAMP1 100.00 0 Neurodevelopmental disorders CHAT 99.97 0 Neurodevelopmental disorders CHD1 100.00 0 Neurodevelopmental disorders CHD1L 99.95 0 Neurodevelopmental disorders CHD2 100.00 0 Neurodevelopmental disorders CHD3 97.53 0 Neurodevelopmental disorders CHD4 99.13 0 Neurodevelopmental disorders CHD7 100.00 0 Neurodevelopmental disorders CHD8 100.00 0 Neurodevelopmental disorders CHKB 99.75 0 Neurodevelopmental disorders CHRNA2 99.99 0 Neurodevelopmental disorders CHRNA4 94.66 0 Neurodevelopmental disorders CHRND 100.00 0 Neurodevelopmental disorders CHST11 100.00 0 Neurodevelopmental disorders CIC 99.22 0 Neurodevelopmental disorders CLCN4 100.00 0 Neurodevelopmental disorders CLCN7 95.85 0 Neurodevelopmental disorders CLCNKB 99.96 0 Neurodevelopmental disorders CLIC2 99.96 0 Neurodevelopmental disorders CLIP1 100.00 0 Neurodevelopmental disorders CLN3 100.00 0 Neurodevelopmental disorders CLN5 98.80 0 Neurodevelopmental disorders CLN6 100.00 0 Neurodevelopmental disorders CLN8 100.00 0 Neurodevelopmental disorders CLPB 99.94 0 Neurodevelopmental disorders CMIP 99.43 0 Neurodevelopmental disorders CNKSR2 99.82 0 Neurodevelopmental disorders CNOT1 99.97 0 Neurodevelopmental disorders CNOT3 100.00 0 Neurodevelopmental disorders CNOT4 100.00 0 Neurodevelopmental disorders CNOT6 100.00 0 Neurodevelopmental disorders CNTN3 100.00 0 Neurodevelopmental disorders CNTN4 100.00 0 Neurodevelopmental disorders CNTNAP2 99.10 0 Neurodevelopmental disorders COA3 100.00 0 Neurodevelopmental disorders COG1 99.01 0 Neurodevelopmental disorders COG5 99.95 0 Neurodevelopmental disorders COG6 100.00 0 Neurodevelopmental disorders COG7 100.00 0 Neurodevelopmental disorders COG8 99.96 0 Neurodevelopmental disorders COL11A1 100.00 0 Neurodevelopmental disorders COL1A2 99.33 0 Neurodevelopmental disorders COL25A1 99.96 0 Neurodevelopmental disorders COL27A1 99.65 0 Neurodevelopmental disorders COL4A1 98.48 0 Neurodevelopmental disorders COL4A2 100.00 0 Neurodevelopmental disorders CERT1 99.99 0 Neurodevelopmental disorders COLEC11 100.00 0 Neurodevelopmental disorders COPB2 99.91 0 Neurodevelopmental disorders COQ2 99.66 0 Neurodevelopmental disorders COX10 100.00 0 Neurodevelopmental disorders COX15 99.99 0 Neurodevelopmental disorders CP 100.00 0 Neurodevelopmental disorders CYP2A6 100.00 0 Neurodevelopmental disorders CYP21A2 100.00 0 Neurodevelopmental disorders CRADD 100.00 0 Neurodevelopmental disorders CRBN 100.00 0 Neurodevelopmental disorders CREB1 99.99 0 Neurodevelopmental disorders CREBBP 99.97 0 Neurodevelopmental disorders CSMD1 100.00 0 Neurodevelopmental disorders CSNK2A1 100.00 0 Neurodevelopmental disorders CSTF2T 100.00 0 Neurodevelopmental disorders CTC1 99.70 0 Neurodevelopmental disorders CTCF 100.00 0 Neurodevelopmental disorders CTDP1 92.47 0 Neurodevelopmental disorders CTNNB1 100.00 0 Neurodevelopmental disorders CTSA 99.94 0 Neurodevelopmental disorders CTSD 93.41 0 Neurodevelopmental disorders CTTNBP2 99.83 0 Neurodevelopmental disorders CUBN 100.00 0 Neurodevelopmental disorders CUL3 100.00 0 Neurodevelopmental disorders CUL4B 99.51 0 Neurodevelopmental disorders CUL5 99.99 0 Neurodevelopmental disorders CUX2 99.78 0 Neurodevelopmental disorders CYB5R3 100.00 0 Neurodevelopmental disorders CYFIP1 99.90 0 Neurodevelopmental disorders CYP27A1 99.38 0 Neurodevelopmental disorders D2HGDH 99.95 0 Neurodevelopmental disorders DAG1 100.00 0 Neurodevelopmental disorders DAGLA 99.99 0 Neurodevelopmental disorders DARS2 100.00 0 Neurodevelopmental disorders DBT 100.00 0 Neurodevelopmental disorders DCAF17 96.96 0 Neurodevelopmental disorders DCPS 100.00 0 Neurodevelopmental disorders DCX 99.94 0 Neurodevelopmental disorders DDHD2 100.00 0 Neurodevelopmental disorders DDX11 99.92 0 Neurodevelopmental disorders DDX3X 100.00 0 Neurodevelopmental disorders DEAF1 97.27 0 Neurodevelopmental disorders DHCR24 98.73 0 Neurodevelopmental disorders DHCR7 99.97 0 Neurodevelopmental disorders DHFR 91.86 0 Neurodevelopmental disorders DHTKD1 99.54 0 Neurodevelopmental disorders DHX9 100.00 0 Neurodevelopmental disorders DIAPH1 99.95 0 Neurodevelopmental disorders DIAPH3 100.00 0 Neurodevelopmental disorders DIP2A 99.87 0 Neurodevelopmental disorders DIP2B 99.66 0 Neurodevelopmental disorders DISC1 0.00 0 Neurodevelopmental disorders DKC1 99.88 0 Neurodevelopmental disorders DLD 100.00 0 Neurodevelopmental disorders DLG2 100.00 0 Neurodevelopmental disorders DLG3 99.58 0 Neurodevelopmental disorders DLG4 100.00 0 Neurodevelopmental disorders DLGAP1 99.92 0 Neurodevelopmental disorders DMD 99.96 0 Neurodevelopmental disorders DMPK 99.91 0 Neurodevelopmental disorders DNAH5 100.00 0 Neurodevelopmental disorders DNAJC19 99.65 0 Neurodevelopmental disorders DNM1 93.52 0 Neurodevelopmental disorders DNMT1 99.54 0 Neurodevelopmental disorders DNMT3A 99.73 0 Neurodevelopmental disorders DNMT3B 100.00 0 Neurodevelopmental disorders DOCK6 99.15 0 Neurodevelopmental disorders DOCK8 99.94 0 Neurodevelopmental disorders DPAGT1 100.00 0 Neurodevelopmental disorders DPF2 100.00 0 Neurodevelopmental disorders DPH1 99.97 0 Neurodevelopmental disorders DPM1 100.00 0 Neurodevelopmental disorders DPP6 99.83 0 Neurodevelopmental disorders DPYD 100.00 0 Neurodevelopmental disorders DSCAM 99.93 0 Neurodevelopmental disorders DST 100.00 0 Neurodevelopmental disorders DUSP15 83.59 0 Neurodevelopmental disorders DYM 100.00 0 Neurodevelopmental disorders DYNC1H1 99.92 0 Neurodevelopmental disorders DYRK1A 100.00 0 Neurodevelopmental disorders GLB1 100.00 0 Neurodevelopmental disorders ECM2 100.00 0 Neurodevelopmental disorders EDC3 100.00 0 Neurodevelopmental disorders EFCAB5 99.99 0 Neurodevelopmental disorders EFNB1 100.00 0 Neurodevelopmental disorders EFNB2 100.00 0 Neurodevelopmental disorders EFL1 100.00 0 Neurodevelopmental disorders EFTUD2 99.99 0 Neurodevelopmental disorders EHMT1 97.78 0 Neurodevelopmental disorders EI24 99.67 0 Neurodevelopmental disorders EIF2AK3 96.33 0 Neurodevelopmental disorders EIF2S3 100.00 0 Neurodevelopmental disorders EIF3G 100.00 0 Neurodevelopmental disorders EIF4A1 99.36 0 Neurodevelopmental disorders EIF4G1 100.00 0 Neurodevelopmental disorders ELAVL2 100.00 0 Neurodevelopmental disorders ELK1 99.85 0 Neurodevelopmental disorders ELOVL4 100.00 0 Neurodevelopmental disorders ELP2 100.00 0 Neurodevelopmental disorders EMC1 100.00 0 Neurodevelopmental disorders EML1 98.26 0 Neurodevelopmental disorders EMX2 99.97 0 Neurodevelopmental disorders EN2 99.85 0 Neurodevelopmental disorders EP300 100.00 0 Neurodevelopmental disorders EP400 100.00 0 Neurodevelopmental disorders EPB41L1 100.00 0 Neurodevelopmental disorders EPHA5 99.93 0 Neurodevelopmental disorders EPHB2 96.50 0 Neurodevelopmental disorders ERBIN 100.00 0 Neurodevelopmental disorders ERBB4 100.00 0 Neurodevelopmental disorders ERCC2 99.22 0 Neurodevelopmental disorders ERCC3 100.00 0 Neurodevelopmental disorders ERCC5 100.00 0 Neurodevelopmental disorders ERCC6 100.00 0 Neurodevelopmental disorders ERCC8 100.00 0 Neurodevelopmental disorders ERLIN2 100.00 0 Neurodevelopmental disorders ESCO2 100.00 0 Neurodevelopmental disorders ETFB 100.00 0 Neurodevelopmental disorders ETHE1 97.84 0 Neurodevelopmental disorders EXOC3L2 99.73 0 Neurodevelopmental disorders EXOSC3 100.00 0 Neurodevelopmental disorders EXT1 100.00 0 Neurodevelopmental disorders EZH2 100.00 0 Neurodevelopmental disorders EZR 100.00 0 Neurodevelopmental disorders F5 99.99 0 Neurodevelopmental disorders FAAH2 100.00 0 Neurodevelopmental disorders OTULIN 87.40 0 Neurodevelopmental disorders HYCC1 100.00 0 Neurodevelopmental disorders FAM177A1 100.00 0 Neurodevelopmental disorders FANCB 100.00 0 Neurodevelopmental disorders FANCD2 100.00 0 Neurodevelopmental disorders FANCG 99.98 0 Neurodevelopmental disorders FBLN5 100.00 0 Neurodevelopmental disorders FBN1 100.00 0 Neurodevelopmental disorders FBN2 100.00 0 Neurodevelopmental disorders FBXO31 94.11 0 Neurodevelopmental disorders FBXO33 92.42 0 Neurodevelopmental disorders FEZF2 99.95 0 Neurodevelopmental disorders FGD1 99.24 0 Neurodevelopmental disorders FGF14 100.00 0 Neurodevelopmental disorders FGFR1 99.94 0 Neurodevelopmental disorders FGFR2 100.00 0 Neurodevelopmental disorders FGFR3 99.24 0 Neurodevelopmental disorders FGG 100.00 0 Neurodevelopmental disorders FH 100.00 0 Neurodevelopmental disorders FHIT 100.00 0 Neurodevelopmental disorders FIGN 100.00 0 Neurodevelopmental disorders FKRP 100.00 0 Neurodevelopmental disorders FKTN 100.00 0 Neurodevelopmental disorders FLNA 99.75 0 Neurodevelopmental disorders FLVCR1 100.00 0 Neurodevelopmental disorders FMN2 100.00 0 Neurodevelopmental disorders FMR1 99.99 0 Neurodevelopmental disorders FOLR1 100.00 0 Neurodevelopmental disorders FOXG1 92.10 0 Neurodevelopmental disorders FOXP1 100.00 0 Neurodevelopmental disorders FOXP2 99.61 0 Neurodevelopmental disorders FOXP3 99.44 0 Neurodevelopmental disorders FRAS1 100.00 0 Neurodevelopmental disorders FRMPD4 99.90 0 Neurodevelopmental disorders FRRS1L 82.37 0 Neurodevelopmental disorders FTCD 96.32 0 Neurodevelopmental disorders FTO 100.00 0 Neurodevelopmental disorders FTSJ1 100.00 0 Neurodevelopmental disorders FUCA1 99.91 0 Neurodevelopmental disorders FXR1 99.74 0 Neurodevelopmental disorders G6PC3 100.00 0 Neurodevelopmental disorders GABRA1 100.00 0 Neurodevelopmental disorders GABRA5 100.00 0 Neurodevelopmental disorders GABRB3 100.00 0 Neurodevelopmental disorders GABRG2 91.70 0 Neurodevelopmental disorders GABRG3 99.57 0 Neurodevelopmental disorders GAD1 100.00 0 Neurodevelopmental disorders GALE 100.00 0 Neurodevelopmental disorders GALK1 99.40 0 Neurodevelopmental disorders GALNT18 100.00 0 Neurodevelopmental disorders GALT 100.00 0 Neurodevelopmental disorders GAMT 97.00 0 Neurodevelopmental disorders GAN 98.52 0 Neurodevelopmental disorders GARNL3 100.00 0 Neurodevelopmental disorders GARS1 97.89 0 Neurodevelopmental disorders GAS2 100.00 0 Neurodevelopmental disorders GATAD2B 100.00 0 Neurodevelopmental disorders GATM 98.74 0 Neurodevelopmental disorders GBA1 100.00 0 Neurodevelopmental disorders GBE1 100.00 0 Neurodevelopmental disorders GCH1 99.71 0 Neurodevelopmental disorders GCK 99.13 0 Neurodevelopmental disorders GCOM1 95.06 0 Neurodevelopmental disorders GCSH 73.97 0 Neurodevelopmental disorders GDI1 99.45 0 Neurodevelopmental disorders GFAP 100.00 0 Neurodevelopmental disorders GFM1 100.00 0 Neurodevelopmental disorders GHR 99.41 0 Neurodevelopmental disorders GIGYF1 99.99 0 Neurodevelopmental disorders GIMAP8 100.00 0 Neurodevelopmental disorders GJB1 100.00 0 Neurodevelopmental disorders GJB6 100.00 0 Neurodevelopmental disorders GJC2 96.72 0 Neurodevelopmental disorders GK 98.88 0 Neurodevelopmental disorders GLDC 97.39 0 Neurodevelopmental disorders GLI2 96.28 0 Neurodevelopmental disorders GLI3 100.00 0 Neurodevelopmental disorders GLO1 100.00 0 Neurodevelopmental disorders GLRA1 100.00 0 Neurodevelopmental disorders GLUL 100.00 0 Neurodevelopmental disorders GLYCTK 98.86 0 Neurodevelopmental disorders GM2A 100.00 0 Neurodevelopmental disorders GMPPA 100.00 0 Neurodevelopmental disorders GMPPB 100.00 0 Neurodevelopmental disorders GNAO1 100.00 0 Neurodevelopmental disorders GNAS 100.00 0 Neurodevelopmental disorders GNB1 100.00 0 Neurodevelopmental disorders GNB5 98.67 0 Neurodevelopmental disorders GNPAT 100.00 0 Neurodevelopmental disorders GNPTAB 99.91 0 Neurodevelopmental disorders GNPTG 95.92 0 Neurodevelopmental disorders GNRHR 100.00 0 Neurodevelopmental disorders GNS 100.00 0 Neurodevelopmental disorders GORASP2 99.76 0 Neurodevelopmental disorders GP1BB 44.39 0 Neurodevelopmental disorders GPC3 99.72 0 Neurodevelopmental disorders GPHN 100.00 0 Neurodevelopmental disorders GPKOW 99.98 0 Neurodevelopmental disorders GPR37 100.00 0 Neurodevelopmental disorders ADGRG1 99.99 0 Neurodevelopmental disorders GPT2 97.87 0 Neurodevelopmental disorders GRB2 100.00 0 Neurodevelopmental disorders GRIA3 99.99 0 Neurodevelopmental disorders GRIA4 100.00 0 Neurodevelopmental disorders GRID2 100.00 0 Neurodevelopmental disorders GRIK2 100.00 0 Neurodevelopmental disorders GRIN1 99.80 0 Neurodevelopmental disorders GRIN2A 100.00 0 Neurodevelopmental disorders GRIN2B 100.00 0 Neurodevelopmental disorders GRIN3B 87.60 0 Neurodevelopmental disorders GRM1 99.99 0 Neurodevelopmental disorders GSE1 99.15 0 Neurodevelopmental disorders GSPT2 99.99 0 Neurodevelopmental disorders GSS 100.00 0 Neurodevelopmental disorders GTF2H5 100.00 0 Neurodevelopmental disorders GTF2IRD1 99.04 0 Neurodevelopmental disorders GTF3C1 100.00 0 Neurodevelopmental disorders GTPBP2 99.78 0 Neurodevelopmental disorders GUSB 97.13 0 Neurodevelopmental disorders GYS2 100.00 0 Neurodevelopmental disorders HAL 99.95 0 Neurodevelopmental disorders HAX1 100.00 0 Neurodevelopmental disorders HCCS 100.00 0 Neurodevelopmental disorders HCFC1 99.85 0 Neurodevelopmental disorders HCN1 99.93 0 Neurodevelopmental disorders HDAC4 99.86 0 Neurodevelopmental disorders HDAC6 99.91 0 Neurodevelopmental disorders HDAC8 99.75 0 Neurodevelopmental disorders HDAC9 100.00 0 Neurodevelopmental disorders HECTD1 100.00 0 Neurodevelopmental disorders HECW2 100.00 0 Neurodevelopmental disorders HEPACAM 99.85 0 Neurodevelopmental disorders HERC1 100.00 0 Neurodevelopmental disorders HERC2 97.66 0 Neurodevelopmental disorders HESX1 100.00 0 Neurodevelopmental disorders HEXA 100.00 0 Neurodevelopmental disorders HEXB 99.19 0 Neurodevelopmental disorders H1-4 99.57 0 Neurodevelopmental disorders H4C2 100.00 0 Neurodevelopmental disorders HIVEP2 99.91 0 Neurodevelopmental disorders HIVEP3 100.00 0 Neurodevelopmental disorders HLCS 100.00 0 Neurodevelopmental disorders HMGA2 93.67 0 Neurodevelopmental disorders HNMT 100.00 0 Neurodevelopmental disorders HNRNPH1 100.00 0 Neurodevelopmental disorders HNRNPU 99.82 0 Neurodevelopmental disorders HNRNPUL1 99.31 0 Neurodevelopmental disorders HOXA1 100.00 0 Neurodevelopmental disorders HOXB1 100.00 0 Neurodevelopmental disorders HOXD10 100.00 0 Neurodevelopmental disorders HPD 100.00 0 Neurodevelopmental disorders HPRT1 92.71 0 Neurodevelopmental disorders HRAS 100.00 0 Neurodevelopmental disorders HSD17B10 100.00 0 Neurodevelopmental disorders HSPA4 100.00 0 Neurodevelopmental disorders HSPD1 95.18 0 Neurodevelopmental disorders HTR2A 100.00 0 Neurodevelopmental disorders HUWE1 99.95 0 Neurodevelopmental disorders IARS1 100.00 0 Neurodevelopmental disorders IDH2 93.11 0 Neurodevelopmental disorders IDS 99.88 0 Neurodevelopmental disorders IDUA 91.86 0 Neurodevelopmental disorders IER3IP1 99.44 0 Neurodevelopmental disorders IFT172 100.00 0 Neurodevelopmental disorders IGBP1 99.53 0 Neurodevelopmental disorders IGF1 100.00 0 Neurodevelopmental disorders IGF1R 100.00 0 Neurodevelopmental disorders IKBKG 96.89 0 Neurodevelopmental disorders IL1RAPL1 99.95 0 Neurodevelopmental disorders ILF2 100.00 0 Neurodevelopmental disorders INPP5E 99.14 0 Neurodevelopmental disorders INSR 96.68 0 Neurodevelopmental disorders INTU 100.00 0 Neurodevelopmental disorders IQGAP3 100.00 0 Neurodevelopmental disorders IQSEC2 98.53 0 Neurodevelopmental disorders IRS1 100.00 0 Neurodevelopmental disorders IRX5 98.24 0 Neurodevelopmental disorders CRPPA 95.50 0 Neurodevelopmental disorders ITGA7 100.00 0 Neurodevelopmental disorders ITGB3 99.17 0 Neurodevelopmental disorders ITPR1 99.99 0 Neurodevelopmental disorders ITSN1 99.99 0 Neurodevelopmental disorders JADE2 100.00 0 Neurodevelopmental disorders JAG1 99.87 0 Neurodevelopmental disorders JAM3 99.88 0 Neurodevelopmental disorders JMJD1C 100.00 0 Neurodevelopmental disorders JUP 100.00 0 Neurodevelopmental disorders KANK1 100.00 0 Neurodevelopmental disorders KANSL1 100.00 0 Neurodevelopmental disorders KAT6A 100.00 0 Neurodevelopmental disorders KAT6B 100.00 0 Neurodevelopmental disorders KATNAL2 100.00 0 Neurodevelopmental disorders KATNB1 99.90 0 Neurodevelopmental disorders KCNA1 100.00 0 Neurodevelopmental disorders KCNH1 100.00 0 Neurodevelopmental disorders KCNJ10 100.00 0 Neurodevelopmental disorders KCNJ11 100.00 0 Neurodevelopmental disorders KCNJ6 100.00 0 Neurodevelopmental disorders KCNK9 100.00 0 Neurodevelopmental disorders KCNMA1 99.93 0 Neurodevelopmental disorders KCNQ2 99.92 0 Neurodevelopmental disorders KCNQ3 98.20 0 Neurodevelopmental disorders KCNQ4 94.57 0 Neurodevelopmental disorders KCNT1 98.96 0 Neurodevelopmental disorders KCTD7 100.00 0 Neurodevelopmental disorders KDM1A 99.82 0 Neurodevelopmental disorders KDM5A 100.00 0 Neurodevelopmental disorders KDM5B 100.00 0 Neurodevelopmental disorders KDM5C 99.97 0 Neurodevelopmental disorders KDM6A 99.72 0 Neurodevelopmental disorders KDM6B 99.91 0 Neurodevelopmental disorders RUBCN 96.60 0 Neurodevelopmental disorders KIAA0753 100.00 0 Neurodevelopmental disorders WASHC4 98.56 0 Neurodevelopmental disorders KIAA1109 99.99 0 Neurodevelopmental disorders KIFBP 100.00 0 Neurodevelopmental disorders CIP2A 100.00 0 Neurodevelopmental disorders LNPK 99.88 0 Neurodevelopmental disorders NEXMIF 100.00 0 Neurodevelopmental disorders KIF11 100.00 0 Neurodevelopmental disorders KIF16B 99.96 0 Neurodevelopmental disorders KIF1A 98.74 0 Neurodevelopmental disorders KIF21A 98.54 0 Neurodevelopmental disorders KIF26B 99.95 0 Neurodevelopmental disorders KIF2A 99.97 0 Neurodevelopmental disorders KIF4A 99.86 0 Neurodevelopmental disorders KIF5A 100.00 0 Neurodevelopmental disorders KIF5C 100.00 0 Neurodevelopmental disorders KIF7 99.64 0 Neurodevelopmental disorders KIRREL3 100.00 0 Neurodevelopmental disorders KIT 99.95 0 Neurodevelopmental disorders KLC2 100.00 0 Neurodevelopmental disorders KLF7 100.00 0 Neurodevelopmental disorders KLF8 99.94 0 Neurodevelopmental disorders KMT2A 99.70 0 Neurodevelopmental disorders KMT2C 100.00 0 Neurodevelopmental disorders KMT2D 99.98 0 Neurodevelopmental disorders KMT2E 99.98 0 Neurodevelopmental disorders KPTN 100.00 0 Neurodevelopmental disorders KRAS 100.00 0 Neurodevelopmental disorders KRBOX4 100.00 0 Neurodevelopmental disorders KRT18 72.23 0 Neurodevelopmental disorders KRT24 100.00 0 Neurodevelopmental disorders KRT8 94.97 0 Neurodevelopmental disorders KYNU 100.00 0 Neurodevelopmental disorders L1CAM 99.98 0 Neurodevelopmental disorders L2HGDH 99.75 0 Neurodevelopmental disorders LAMA1 99.79 0 Neurodevelopmental disorders LAMA2 100.00 0 Neurodevelopmental disorders LAMB1 100.00 0 Neurodevelopmental disorders LAMC3 98.42 0 Neurodevelopmental disorders LAMP2 99.60 0 Neurodevelopmental disorders LARGE1 100.00 0 Neurodevelopmental disorders LARP7 100.00 0 Neurodevelopmental disorders LAS1L 99.53 0 Neurodevelopmental disorders LBR 100.00 0 Neurodevelopmental disorders LCT 100.00 0 Neurodevelopmental disorders LHX3 90.58 0 Neurodevelopmental disorders LIG4 100.00 0 Neurodevelopmental disorders LINS1 100.00 0 Neurodevelopmental disorders LMAN2L 100.00 0 Neurodevelopmental disorders LMBRD1 100.00 0 Neurodevelopmental disorders ADGRL2 99.98 0 Neurodevelopmental disorders LRP1 100.00 0 Neurodevelopmental disorders LRP2 99.71 0 Neurodevelopmental disorders LRP5 96.72 0 Neurodevelopmental disorders LRPPRC 98.80 0 Neurodevelopmental disorders LRRC7 100.00 0 Neurodevelopmental disorders LYST 100.00 0 Neurodevelopmental disorders MAGEL2 99.88 0 Neurodevelopmental disorders MAGT1 100.00 0 Neurodevelopmental disorders MAN1B1 99.81 0 Neurodevelopmental disorders MAN2B1 99.30 0 Neurodevelopmental disorders MANBA 99.49 0 Neurodevelopmental disorders MAOA 98.99 0 Neurodevelopmental disorders MAP1B 99.93 0 Neurodevelopmental disorders MAP2 100.00 0 Neurodevelopmental disorders MAP2K1 100.00 0 Neurodevelopmental disorders MAP2K2 99.99 0 Neurodevelopmental disorders MAPK1 99.88 0 Neurodevelopmental disorders MAPK3 99.96 0 Neurodevelopmental disorders MAPRE2 100.00 0 Neurodevelopmental disorders MAPT 100.00 0 Neurodevelopmental disorders MAT1A 100.00 0 Neurodevelopmental disorders MBD3 100.00 0 Neurodevelopmental disorders MBD5 100.00 0 Neurodevelopmental disorders MBTPS2 100.00 0 Neurodevelopmental disorders MCCC1 99.77 0 Neurodevelopmental disorders MCCC2 99.65 0 Neurodevelopmental disorders MCOLN1 95.75 0 Neurodevelopmental disorders MCPH1 99.70 0 Neurodevelopmental disorders MDM2 100.00 0 Neurodevelopmental disorders MECP2 96.46 0 Neurodevelopmental disorders MED12 99.02 0 Neurodevelopmental disorders MED13L 99.95 0 Neurodevelopmental disorders MED17 100.00 0 Neurodevelopmental disorders MED23 99.94 0 Neurodevelopmental disorders MED29 100.00 0 Neurodevelopmental disorders MEF2C 100.00 0 Neurodevelopmental disorders MET 100.00 0 Neurodevelopmental disorders METTL23 100.00 0 Neurodevelopmental disorders MFRP 100.00 0 Neurodevelopmental disorders MFSD8 100.00 0 Neurodevelopmental disorders MGAT2 100.00 0 Neurodevelopmental disorders MIB1 100.00 0 Neurodevelopmental disorders MID1 100.00 0 Neurodevelopmental disorders MID2 100.00 0 Neurodevelopmental disorders MIR222 100.00 0 Neurodevelopmental disorders MKKS 100.00 0 Neurodevelopmental disorders MLH1 100.00 0 Neurodevelopmental disorders MLYCD 96.09 0 Neurodevelopmental disorders MMAA 100.00 0 Neurodevelopmental disorders MMACHC 100.00 0 Neurodevelopmental disorders MMADHC 100.00 0 Neurodevelopmental disorders MMP21 97.88 0 Neurodevelopmental disorders MOCS1 99.94 0 Neurodevelopmental disorders MOCS2 100.00 0 Neurodevelopmental disorders MOGS 98.86 0 Neurodevelopmental disorders MOV10 100.00 0 Neurodevelopmental disorders MPDU1 100.00 0 Neurodevelopmental disorders MPDZ 100.00 0 Neurodevelopmental disorders MPHOSPH8 100.00 0 Neurodevelopmental disorders MPI 100.00 0 Neurodevelopmental disorders MPLKIP 100.00 0 Neurodevelopmental disorders MPZ 99.80 0 Neurodevelopmental disorders MRAP 100.00 0 Neurodevelopmental disorders MRPS22 98.08 0 Neurodevelopmental disorders MSH6 99.89 0 Neurodevelopmental disorders MST1R 100.00 0 Neurodevelopmental disorders MTFMT 97.83 0 Neurodevelopmental disorders MTHFR 100.00 0 Neurodevelopmental disorders MTHFS 94.81 0 Neurodevelopmental disorders MTM1 99.91 0 Neurodevelopmental disorders MTMR2 99.55 0 Neurodevelopmental disorders MTR 100.00 0 Neurodevelopmental disorders MTRR 100.00 0 Neurodevelopmental disorders MMUT 99.99 0 Neurodevelopmental disorders MVK 100.00 0 Neurodevelopmental disorders MYCN 99.89 0 Neurodevelopmental disorders MYH10 100.00 0 Neurodevelopmental disorders MYH7B 99.85 0 Neurodevelopmental disorders MYH9 99.99 0 Neurodevelopmental disorders MYO1E 99.57 0 Neurodevelopmental disorders MYO3A 100.00 0 Neurodevelopmental disorders MYO5A 99.67 0 Neurodevelopmental disorders MYO7A 99.88 0 Neurodevelopmental disorders MYOC 100.00 0 Neurodevelopmental disorders MYT1L 100.00 0 Neurodevelopmental disorders NAA10 96.95 0 Neurodevelopmental disorders NAA15 100.00 0 Neurodevelopmental disorders NAGA 100.00 0 Neurodevelopmental disorders NAGLU 96.69 0 Neurodevelopmental disorders NALCN 100.00 0 Neurodevelopmental disorders NANS 100.00 0 Neurodevelopmental disorders NAV2 100.00 0 Neurodevelopmental disorders NBEA 97.18 0 Neurodevelopmental disorders NBN 100.00 0 Neurodevelopmental disorders NCKAP1 100.00 0 Neurodevelopmental disorders NDE1 100.00 0 Neurodevelopmental disorders NDP 100.00 0 Neurodevelopmental disorders NDST1 100.00 0 Neurodevelopmental disorders NDUFA1 100.00 0 Neurodevelopmental disorders NDUFA10 96.45 0 Neurodevelopmental disorders NDUFA11 80.54 0 Neurodevelopmental disorders NDUFA12 100.00 0 Neurodevelopmental disorders NDUFAF5 99.96 0 Neurodevelopmental disorders NDUFS1 100.00 0 Neurodevelopmental disorders NDUFS2 100.00 0 Neurodevelopmental disorders NDUFS3 100.00 0 Neurodevelopmental disorders NDUFS4 99.96 0 Neurodevelopmental disorders NDUFS7 93.34 0 Neurodevelopmental disorders NDUFS8 100.00 0 Neurodevelopmental disorders NDUFV1 99.62 0 Neurodevelopmental disorders NEDD4L 98.66 0 Neurodevelopmental disorders NEDD9 100.00 0 Neurodevelopmental disorders NEU1 100.00 0 Neurodevelopmental disorders NF1 98.78 0 Neurodevelopmental disorders NFATC1 99.80 0 Neurodevelopmental disorders NFIA 99.95 0 Neurodevelopmental disorders NFIX 94.60 0 Neurodevelopmental disorders NGF 100.00 0 Neurodevelopmental disorders NHEJ1 100.00 0 Neurodevelopmental disorders NHP2 100.00 0 Neurodevelopmental disorders NHS 92.80 0 Neurodevelopmental disorders NIPBL 99.48 0 Neurodevelopmental disorders NKX2-1 97.73 0 Neurodevelopmental disorders NLGN1 100.00 0 Neurodevelopmental disorders NLGN3 99.95 0 Neurodevelopmental disorders NLGN4X 100.00 0 Neurodevelopmental disorders NLGN4Y 60.20 0 Neurodevelopmental disorders NOG 99.95 0 Neurodevelopmental disorders NONO 100.00 0 Neurodevelopmental disorders NOTCH3 93.46 0 Neurodevelopmental disorders NPC1 97.50 0 Neurodevelopmental disorders NPC2 100.00 0 Neurodevelopmental disorders NPHP1 100.00 0 Neurodevelopmental disorders NPHP3 99.99 0 Neurodevelopmental disorders NR2F1 99.99 0 Neurodevelopmental disorders NR3C2 99.99 0 Neurodevelopmental disorders NR4A2 100.00 0 Neurodevelopmental disorders NRAS 100.00 0 Neurodevelopmental disorders NRCAM 100.00 0 Neurodevelopmental disorders NRG3 99.55 0 Neurodevelopmental disorders NRIP1 100.00 0 Neurodevelopmental disorders NRXN1 99.87 0 Neurodevelopmental disorders NRXN2 93.76 0 Neurodevelopmental disorders NSD1 100.00 0 Neurodevelopmental disorders NSDHL 100.00 0 Neurodevelopmental disorders NSUN2 99.69 0 Neurodevelopmental disorders NTRK1 98.36 0 Neurodevelopmental disorders NTRK2 100.00 0 Neurodevelopmental disorders NUAK1 99.69 0 Neurodevelopmental disorders NXF5 98.08 0 Neurodevelopmental disorders OBSL1 99.88 0 Neurodevelopmental disorders OCA2 99.49 0 Neurodevelopmental disorders OCLN 100.00 0 Neurodevelopmental disorders OCRL 98.81 0 Neurodevelopmental disorders ODC1 100.00 0 Neurodevelopmental disorders OFD1 97.13 0 Neurodevelopmental disorders OGT 99.90 0 Neurodevelopmental disorders OPHN1 99.94 0 Neurodevelopmental disorders SLC25A15 100.00 0 Neurodevelopmental disorders OTC 99.17 0 Neurodevelopmental disorders OXTR 92.68 0 Neurodevelopmental disorders PACS1 98.26 0 Neurodevelopmental disorders PAFAH1B1 100.00 0 Neurodevelopmental disorders PAH 100.00 0 Neurodevelopmental disorders PAK3 98.75 0 Neurodevelopmental disorders PANK2 100.00 0 Neurodevelopmental disorders PARD3B 100.00 0 Neurodevelopmental disorders PARP1 100.00 0 Neurodevelopmental disorders PAX1 96.00 0 Neurodevelopmental disorders PAX5 100.00 0 Neurodevelopmental disorders PAX6 100.00 0 Neurodevelopmental disorders PAX8 99.96 0 Neurodevelopmental disorders PBRM1 100.00 0 Neurodevelopmental disorders PODXL 100.00 0 Neurodevelopmental disorders PCDH10 99.96 0 Neurodevelopmental disorders PCDH19 98.99 0 Neurodevelopmental disorders PCGF2 100.00 0 Neurodevelopmental disorders PCLO 100.00 0 Neurodevelopmental disorders PCNT 99.88 0 Neurodevelopmental disorders PDE1C 99.99 0 Neurodevelopmental disorders PDE4D 99.96 0 Neurodevelopmental disorders PDE8B 98.72 0 Neurodevelopmental disorders PDHA1 92.64 0 Neurodevelopmental disorders PDHX 100.00 0 Neurodevelopmental disorders PDSS1 85.11 0 Neurodevelopmental disorders PDSS2 100.00 0 Neurodevelopmental disorders PEPD 97.88 0 Neurodevelopmental disorders PER2 100.00 0 Neurodevelopmental disorders PEX1 100.00 0 Neurodevelopmental disorders PEX10 87.10 0 Neurodevelopmental disorders PEX11B 100.00 0 Neurodevelopmental disorders PEX12 100.00 0 Neurodevelopmental disorders PEX13 100.00 0 Neurodevelopmental disorders PEX16 99.97 0 Neurodevelopmental disorders PEX19 100.00 0 Neurodevelopmental disorders PEX2 100.00 0 Neurodevelopmental disorders PEX26 100.00 0 Neurodevelopmental disorders PEX3 100.00 0 Neurodevelopmental disorders PEX5 100.00 0 Neurodevelopmental disorders PEX6 99.74 0 Neurodevelopmental disorders PEX7 95.60 0 Neurodevelopmental disorders PGA5 100.00 0 Neurodevelopmental disorders PGAP1 100.00 0 Neurodevelopmental disorders PGAP2 100.00 0 Neurodevelopmental disorders PGAP3 98.48 0 Neurodevelopmental disorders PGK1 99.88 0 Neurodevelopmental disorders PHF2 99.95 0 Neurodevelopmental disorders PHF21A 100.00 0 Neurodevelopmental disorders PHF6 100.00 0 Neurodevelopmental disorders PHF8 100.00 0 Neurodevelopmental disorders PHGDH 100.00 0 Neurodevelopmental disorders PHIP 99.68 0 Neurodevelopmental disorders PHKA2 99.88 0 Neurodevelopmental disorders PHKG2 100.00 0 Neurodevelopmental disorders PIAS1 99.99 0 Neurodevelopmental disorders PIGG 100.00 0 Neurodevelopmental disorders PIGL 100.00 0 Neurodevelopmental disorders PIGN 100.00 0 Neurodevelopmental disorders PIGO 100.00 0 Neurodevelopmental disorders PIGS 99.99 0 Neurodevelopmental disorders PIGT 100.00 0 Neurodevelopmental disorders PIGV 100.00 0 Neurodevelopmental disorders PIGW 100.00 0 Neurodevelopmental disorders PIGY 100.00 0 Neurodevelopmental disorders PIK3R2 88.52 0 Neurodevelopmental disorders PLA2G6 100.00 0 Neurodevelopmental disorders PLCB1 100.00 0 Neurodevelopmental disorders PLP1 100.00 0 Neurodevelopmental disorders PLXNB1 100.00 0 Neurodevelopmental disorders PMM2 100.00 0 Neurodevelopmental disorders PNKP 99.84 0 Neurodevelopmental disorders PNP 100.00 0 Neurodevelopmental disorders POC1A 99.00 0 Neurodevelopmental disorders POGZ 100.00 0 Neurodevelopmental disorders POLG 100.00 0 Neurodevelopmental disorders POLR2M 100.00 0 Neurodevelopmental disorders POLR3A 100.00 0 Neurodevelopmental disorders POLR3B 100.00 0 Neurodevelopmental disorders POMC 100.00 0 Neurodevelopmental disorders POMGNT1 100.00 0 Neurodevelopmental disorders POMGNT2 100.00 0 Neurodevelopmental disorders POMT1 100.00 0 Neurodevelopmental disorders POMT2 99.53 0 Neurodevelopmental disorders PORCN 98.59 0 Neurodevelopmental disorders POT1 99.99 0 Neurodevelopmental disorders POU1F1 100.00 0 Neurodevelopmental disorders POU3F3 71.08 0 Neurodevelopmental disorders POU3F4 100.00 0 Neurodevelopmental disorders PPM1D 100.00 0 Neurodevelopmental disorders HCRT 100.00 0 Neurodevelopmental disorders PPP1CB 100.00 0 Neurodevelopmental disorders PPP1R1B 100.00 0 Neurodevelopmental disorders PPP2R1A 100.00 0 Neurodevelopmental disorders PPP2R5D 100.00 0 Neurodevelopmental disorders PPT1 100.00 0 Neurodevelopmental disorders PQBP1 99.91 0 Neurodevelopmental disorders PRICKLE1 100.00 0 Neurodevelopmental disorders PRKAR1A 100.00 0 Neurodevelopmental disorders PRKRA 99.64 0 Neurodevelopmental disorders PRMT7 100.00 0 Neurodevelopmental disorders PRODH 88.26 0 Neurodevelopmental disorders PRPS1 99.91 0 Neurodevelopmental disorders PRR12 99.99 0 Neurodevelopmental disorders PRRT2 100.00 0 Neurodevelopmental disorders PRSS12 100.00 0 Neurodevelopmental disorders PSAP 100.00 0 Neurodevelopmental disorders PSEN1 100.00 0 Neurodevelopmental disorders PTCH1 98.82 0 Neurodevelopmental disorders PTCHD1 99.78 0 Neurodevelopmental disorders PTDSS1 100.00 0 Neurodevelopmental disorders PTEN 99.45 0 Neurodevelopmental disorders PTHLH 100.00 0 Neurodevelopmental disorders PTK7 100.00 0 Neurodevelopmental disorders PTPN11 94.43 0 Neurodevelopmental disorders PUF60 99.31 0 Neurodevelopmental disorders PUM1 100.00 0 Neurodevelopmental disorders PURA 95.47 0 Neurodevelopmental disorders PUS1 100.00 0 Neurodevelopmental disorders PUS3 100.00 0 Neurodevelopmental disorders PUS7 100.00 0 Neurodevelopmental disorders NECTIN1 99.19 0 Neurodevelopmental disorders PYCR1 100.00 0 Neurodevelopmental disorders PYCR2 100.00 0 Neurodevelopmental disorders PYGL 100.00 0 Neurodevelopmental disorders QRICH1 100.00 0 Neurodevelopmental disorders RAB18 99.99 0 Neurodevelopmental disorders RAB27A 100.00 0 Neurodevelopmental disorders RAB39B 100.00 0 Neurodevelopmental disorders RAB3GAP1 100.00 0 Neurodevelopmental disorders RAB3GAP2 100.00 0 Neurodevelopmental disorders RAB40AL 99.91 0 Neurodevelopmental disorders RABL6 99.42 0 Neurodevelopmental disorders NCOA3 88.47 0 Neurodevelopmental disorders RAD21 100.00 0 Neurodevelopmental disorders RAF1 100.00 0 Neurodevelopmental disorders RAI1 93.59 0 Neurodevelopmental disorders RALGAPB 100.00 0 Neurodevelopmental disorders RALGDS 92.25 0 Neurodevelopmental disorders RANBP17 98.10 0 Neurodevelopmental disorders RAPSN 100.00 0 Neurodevelopmental disorders RARS2 100.00 0 Neurodevelopmental disorders RASGEF1B 100.00 0 Neurodevelopmental disorders RBBP8 99.97 0 Neurodevelopmental disorders RBFOX1 98.87 0 Neurodevelopmental disorders RBL2 98.63 0 Neurodevelopmental disorders RBM10 99.23 0 Neurodevelopmental disorders RBM28 98.67 0 Neurodevelopmental disorders RELN 100.00 0 Neurodevelopmental disorders RERE 99.81 0 Neurodevelopmental disorders REV3L 99.86 0 Neurodevelopmental disorders RFT1 99.87 0 Neurodevelopmental disorders RFX3 100.00 0 Neurodevelopmental disorders RFX6 100.00 0 Neurodevelopmental disorders RIC8A 99.98 0 Neurodevelopmental disorders RIMS1 100.00 0 Neurodevelopmental disorders RIT1 100.00 0 Neurodevelopmental disorders RMND1 99.49 0 Neurodevelopmental disorders RMRP 100.00 0 Neurodevelopmental disorders RNASEH2A 100.00 0 Neurodevelopmental disorders RNASEH2B 94.58 0 Neurodevelopmental disorders RNASEH2C 100.00 0 Neurodevelopmental disorders RNASET2 100.00 0 Neurodevelopmental disorders RNF125 99.99 0 Neurodevelopmental disorders RNF213 100.00 0 Neurodevelopmental disorders ROGDI 91.40 0 Neurodevelopmental disorders RP2 99.78 0 Neurodevelopmental disorders RPGRIP1L 96.40 0 Neurodevelopmental disorders RPL15 99.14 0 Neurodevelopmental disorders RPS6KA2 100.00 0 Neurodevelopmental disorders RPS6KA3 96.78 0 Neurodevelopmental disorders RRAS 97.75 0 Neurodevelopmental disorders RTEL1 100.00 0 Neurodevelopmental disorders RTN2 99.44 0 Neurodevelopmental disorders RTN4IP1 100.00 0 Neurodevelopmental disorders RUNX1 99.48 0 Neurodevelopmental disorders RUVBL1 100.00 0 Neurodevelopmental disorders RYR1 99.39 0 Neurodevelopmental disorders RYR2 100.00 0 Neurodevelopmental disorders S100G 98.92 0 Neurodevelopmental disorders SACS 99.95 0 Neurodevelopmental disorders SALL1 100.00 0 Neurodevelopmental disorders SAMHD1 100.00 0 Neurodevelopmental disorders SARDH 99.83 0 Neurodevelopmental disorders SARS2 100.00 0 Neurodevelopmental disorders SATB2 99.34 0 Neurodevelopmental disorders SBF1 98.38 0 Neurodevelopmental disorders SC5D 100.00 0 Neurodevelopmental disorders SCAPER 99.94 0 Neurodevelopmental disorders SCN1A 100.00 0 Neurodevelopmental disorders SCN2A 100.00 0 Neurodevelopmental disorders SCN7A 100.00 0 Neurodevelopmental disorders SCN8A 100.00 0 Neurodevelopmental disorders SCN9A 99.99 0 Neurodevelopmental disorders SCO2 93.85 0 Neurodevelopmental disorders SDCCAG8 100.00 0 Neurodevelopmental disorders SDHA 95.31 0 Neurodevelopmental disorders SDK1 96.50 0 Neurodevelopmental disorders SERAC1 100.00 0 Neurodevelopmental disorders SETBP1 100.00 0 Neurodevelopmental disorders SETD1A 100.00 0 Neurodevelopmental disorders SETD1B 99.89 0 Neurodevelopmental disorders SETD2 100.00 0 Neurodevelopmental disorders SETD5 100.00 0 Neurodevelopmental disorders NR5A1 87.73 0 Neurodevelopmental disorders SFPQ 99.89 0 Neurodevelopmental disorders SGCA 100.00 0 Neurodevelopmental disorders SGSH 99.85 0 Neurodevelopmental disorders SHANK1 99.69 0 Neurodevelopmental disorders SHANK2 100.00 0 Neurodevelopmental disorders SHANK3 90.31 0 Neurodevelopmental disorders SHC1 100.00 0 Neurodevelopmental disorders SHH 99.47 0 Neurodevelopmental disorders SHOC2 100.00 0 Neurodevelopmental disorders SHOX 98.69 0 Neurodevelopmental disorders SHROOM4 99.98 0 Neurodevelopmental disorders SIL1 99.95 0 Neurodevelopmental disorders SIN3A 97.83 0 Neurodevelopmental disorders SIX3 99.61 0 Neurodevelopmental disorders HHAT 92.45 0 Neurodevelopmental disorders SLC12A6 100.00 0 Neurodevelopmental disorders SLC16A2 99.97 0 Neurodevelopmental disorders SLC17A5 100.00 0 Neurodevelopmental disorders SLC1A1 100.00 0 Neurodevelopmental disorders SLC1A4 99.98 0 Neurodevelopmental disorders SLC20A2 100.00 0 Neurodevelopmental disorders SLC24A2 99.82 0 Neurodevelopmental disorders SLC25A1 98.83 0 Neurodevelopmental disorders SLC25A12 100.00 0 Neurodevelopmental disorders SLC25A13 100.00 0 Neurodevelopmental disorders SLC25A22 100.00 0 Neurodevelopmental disorders SLC25A24 99.90 0 Neurodevelopmental disorders SLC26A9 100.00 0 Neurodevelopmental disorders SLC2A1 100.00 0 Neurodevelopmental disorders SLC2A2 99.95 0 Neurodevelopmental disorders SLC33A1 100.00 0 Neurodevelopmental disorders SLC35A2 100.00 0 Neurodevelopmental disorders SLC35C1 100.00 0 Neurodevelopmental disorders SLC39A8 98.92 0 Neurodevelopmental disorders SLC46A1 99.98 0 Neurodevelopmental disorders SLC4A4 100.00 0 Neurodevelopmental disorders SLC5A2 99.99 0 Neurodevelopmental disorders SLC5A5 99.97 0 Neurodevelopmental disorders SLC6A1 100.00 0 Neurodevelopmental disorders SLC6A17 100.00 0 Neurodevelopmental disorders SLC6A3 100.00 0 Neurodevelopmental disorders SLC6A4 100.00 0 Neurodevelopmental disorders SLC6A8 99.41 0 Neurodevelopmental disorders SLC7A7 100.00 0 Neurodevelopmental disorders SLC9A6 99.66 0 Neurodevelopmental disorders SLC9A7 95.89 0 Neurodevelopmental disorders SLC9A9 100.00 0 Neurodevelopmental disorders SLCO1B1 99.89 0 Neurodevelopmental disorders SLCO1B3 99.94 0 Neurodevelopmental disorders SLX4 100.00 0 Neurodevelopmental disorders SMAD2 100.00 0 Neurodevelopmental disorders SMAD4 98.47 0 Neurodevelopmental disorders SMARCA2 98.99 0 Neurodevelopmental disorders SMARCA4 100.00 0 Neurodevelopmental disorders SMARCB1 100.00 0 Neurodevelopmental disorders SMARCC2 100.00 0 Neurodevelopmental disorders SMARCE1 98.46 0 Neurodevelopmental disorders SMC1A 99.87 0 Neurodevelopmental disorders SMC3 100.00 0 Neurodevelopmental disorders SMG6 96.90 0 Neurodevelopmental disorders SMOC1 98.05 0 Neurodevelopmental disorders SMPD1 100.00 0 Neurodevelopmental disorders SNAP29 100.00 0 Neurodevelopmental disorders SNIP1 100.00 0 Neurodevelopmental disorders SNRPA 100.00 0 Neurodevelopmental disorders SNX14 99.98 0 Neurodevelopmental disorders SNX19 99.99 0 Neurodevelopmental disorders SOBP 95.50 0 Neurodevelopmental disorders SON 100.00 0 Neurodevelopmental disorders SOS1 100.00 0 Neurodevelopmental disorders SOS2 99.96 0 Neurodevelopmental disorders SOX10 95.36 0 Neurodevelopmental disorders SOX11 100.00 0 Neurodevelopmental disorders SOX2 95.35 0 Neurodevelopmental disorders SOX3 97.06 0 Neurodevelopmental disorders SOX5 100.00 0 Neurodevelopmental disorders SPAST 99.83 0 Neurodevelopmental disorders AFG2A 99.97 0 Neurodevelopmental disorders SPG11 100.00 0 Neurodevelopmental disorders SPG7 95.78 0 Neurodevelopmental disorders SPR 99.98 0 Neurodevelopmental disorders SPRED1 100.00 0 Neurodevelopmental disorders SPTAN1 100.00 0 Neurodevelopmental disorders SPTLC1 99.27 0 Neurodevelopmental disorders SRCAP 100.00 0 Neurodevelopmental disorders SRD5A3 98.61 0 Neurodevelopmental disorders SREBF2 99.91 0 Neurodevelopmental disorders SRGAP3 100.00 0 Neurodevelopmental disorders SRPX2 99.04 0 Neurodevelopmental disorders ST3GAL3 100.00 0 Neurodevelopmental disorders ST3GAL5 90.70 0 Neurodevelopmental disorders STAG1 100.00 0 Neurodevelopmental disorders STAT5B 100.00 0 Neurodevelopmental disorders STIL 100.00 0 Neurodevelopmental disorders STRA6 100.00 0 Neurodevelopmental disorders STS 99.91 0 Neurodevelopmental disorders STT3A 100.00 0 Neurodevelopmental disorders STT3B 100.00 0 Neurodevelopmental disorders STX11 100.00 0 Neurodevelopmental disorders STXBP1 100.00 0 Neurodevelopmental disorders STXBP5 100.00 0 Neurodevelopmental disorders SUCLA2 99.86 0 Neurodevelopmental disorders SUCLG1 93.27 0 Neurodevelopmental disorders SUOX 100.00 0 Neurodevelopmental disorders SUPT16H 100.00 0 Neurodevelopmental disorders SURF1 82.91 0 Neurodevelopmental disorders KMT5B 100.00 0 Neurodevelopmental disorders SYN1 96.00 0 Neurodevelopmental disorders SYNE1 100.00 0 Neurodevelopmental disorders SYNGAP1 99.76 0 Neurodevelopmental disorders SYNM 92.93 0 Neurodevelopmental disorders SYNPO 100.00 0 Neurodevelopmental disorders SYP 97.84 0 Neurodevelopmental disorders SYT14 92.28 0 Neurodevelopmental disorders SYT3 99.96 0 Neurodevelopmental disorders TAF1 99.98 0 Neurodevelopmental disorders TAF13 100.00 0 Neurodevelopmental disorders TAF2 100.00 0 Neurodevelopmental disorders TAT 100.00 0 Neurodevelopmental disorders TBC1D24 99.99 0 Neurodevelopmental disorders TBC1D7 100.00 0 Neurodevelopmental disorders TBCE 100.00 0 Neurodevelopmental disorders TBCK 100.00 0 Neurodevelopmental disorders TBR1 99.60 0 Neurodevelopmental disorders TBX1 83.55 0 Neurodevelopmental disorders TCF20 100.00 0 Neurodevelopmental disorders TCF3 99.97 0 Neurodevelopmental disorders TCF4 100.00 0 Neurodevelopmental disorders TCF7L2 100.00 0 Neurodevelopmental disorders TDG 100.00 0 Neurodevelopmental disorders TECR 100.00 0 Neurodevelopmental disorders TELO2 98.19 0 Neurodevelopmental disorders TENM1 99.91 0 Neurodevelopmental disorders TET3 100.00 0 Neurodevelopmental disorders TFAP2A 99.96 0 Neurodevelopmental disorders TGFBR1 91.80 0 Neurodevelopmental disorders TGFBR2 100.00 0 Neurodevelopmental disorders TGIF1 100.00 0 Neurodevelopmental disorders TGM1 100.00 0 Neurodevelopmental disorders TH 98.79 0 Neurodevelopmental disorders THOC2 99.62 0 Neurodevelopmental disorders THOC6 100.00 0 Neurodevelopmental disorders THRA 100.00 0 Neurodevelopmental disorders THRB 100.00 0 Neurodevelopmental disorders THSD1 100.00 0 Neurodevelopmental disorders TIMM8A 99.00 0 Neurodevelopmental disorders TINF2 99.94 0 Neurodevelopmental disorders TMCO1 100.00 0 Neurodevelopmental disorders TMEM107 100.00 0 Neurodevelopmental disorders TMEM135 100.00 0 Neurodevelopmental disorders TMEM165 91.64 0 Neurodevelopmental disorders TMEM216 99.87 0 Neurodevelopmental disorders TMEM231 100.00 0 Neurodevelopmental disorders TMEM237 99.85 0 Neurodevelopmental disorders TMEM67 99.95 0 Neurodevelopmental disorders TMEM70 100.00 0 Neurodevelopmental disorders TMLHE 99.11 0 Neurodevelopmental disorders TNIK 100.00 0 Neurodevelopmental disorders TNK2 99.86 0 Neurodevelopmental disorders TNRC6B 99.93 0 Neurodevelopmental disorders TOPORS 100.00 0 Neurodevelopmental disorders TOR1A 99.70 0 Neurodevelopmental disorders TDO2 100.00 0 Neurodevelopmental disorders TPK1 99.99 0 Neurodevelopmental disorders THPO 99.80 0 Neurodevelopmental disorders ACD 99.99 0 Neurodevelopmental disorders TPTE 99.28 0 Neurodevelopmental disorders TRAF7 99.04 0 Neurodevelopmental disorders TRAPPC11 99.97 0 Neurodevelopmental disorders TRAPPC12 99.96 0 Neurodevelopmental disorders TRAPPC9 99.15 0 Neurodevelopmental disorders TREX1 100.00 0 Neurodevelopmental disorders TRHR 100.00 0 Neurodevelopmental disorders TRIM10 100.00 0 Neurodevelopmental disorders TRIM3 100.00 0 Neurodevelopmental disorders TRIM32 100.00 0 Neurodevelopmental disorders TRIO 98.86 0 Neurodevelopmental disorders TRIP12 100.00 0 Neurodevelopmental disorders TRMT10A 100.00 0 Neurodevelopmental disorders TRPM3 100.00 0 Neurodevelopmental disorders TRPM6 100.00 0 Neurodevelopmental disorders TRPV4 100.00 0 Neurodevelopmental disorders TRPV6 100.00 0 Neurodevelopmental disorders TSC1 100.00 0 Neurodevelopmental disorders TSC2 99.94 0 Neurodevelopmental disorders TSEN54 91.60 0 Neurodevelopmental disorders TSHR 100.00 0 Neurodevelopmental disorders TSPAN7 99.05 0 Neurodevelopmental disorders SKIC3 99.99 0 Neurodevelopmental disorders TTC8 99.73 0 Neurodevelopmental disorders TTC9 91.41 0 Neurodevelopmental disorders TTI2 100.00 0 Neurodevelopmental disorders TTN 100.00 0 Neurodevelopmental disorders TTR 100.00 0 Neurodevelopmental disorders TUBA1A 100.00 0 Neurodevelopmental disorders TUBA8 99.98 0 Neurodevelopmental disorders TUBB 100.00 0 Neurodevelopmental disorders TUBB2B 100.00 0 Neurodevelopmental disorders TUBB3 99.01 0 Neurodevelopmental disorders TUBGCP4 99.17 0 Neurodevelopmental disorders TUBGCP6 100.00 0 Neurodevelopmental disorders TUSC3 100.00 0 Neurodevelopmental disorders TWIST1 97.62 0 Neurodevelopmental disorders UBE2A 100.00 0 Neurodevelopmental disorders UBE3A 100.00 0 Neurodevelopmental disorders UBE3B 100.00 0 Neurodevelopmental disorders UBR1 100.00 0 Neurodevelopmental disorders UBTF 100.00 0 Neurodevelopmental disorders UNC50 100.00 0 Neurodevelopmental disorders UNC80 99.98 0 Neurodevelopmental disorders UPB1 100.00 0 Neurodevelopmental disorders UPF3B 99.86 0 Neurodevelopmental disorders UROC1 99.97 0 Neurodevelopmental disorders USP9X 100.00 0 Neurodevelopmental disorders UTP6 100.00 0 Neurodevelopmental disorders VCP 97.10 0 Neurodevelopmental disorders VLDLR 96.00 0 Neurodevelopmental disorders VPS13B 100.00 0 Neurodevelopmental disorders VPS39 99.94 0 Neurodevelopmental disorders VPS4A 100.00 0 Neurodevelopmental disorders VRK1 100.00 0 Neurodevelopmental disorders WAC 100.00 0 Neurodevelopmental disorders WDFY3 100.00 0 Neurodevelopmental disorders WDR11 100.00 0 Neurodevelopmental disorders WDR13 99.05 0 Neurodevelopmental disorders WDR19 100.00 0 Neurodevelopmental disorders WDR26 99.54 0 Neurodevelopmental disorders WDR4 100.00 0 Neurodevelopmental disorders WDR45 100.00 0 Neurodevelopmental disorders WDR45B 99.94 0 Neurodevelopmental disorders WDR62 100.00 0 Neurodevelopmental disorders WDR73 100.00 0 Neurodevelopmental disorders WDR81 99.63 0 Neurodevelopmental disorders NSD2 100.00 0 Neurodevelopmental disorders WNT2 100.00 0 Neurodevelopmental disorders WRN 100.00 0 Neurodevelopmental disorders WWOX 100.00 0 Neurodevelopmental disorders XPA 98.10 0 Neurodevelopmental disorders XPNPEP3 100.00 0 Neurodevelopmental disorders XPO5 100.00 0 Neurodevelopmental disorders XYLT1 89.98 0 Neurodevelopmental disorders YAP1 99.86 0 Neurodevelopmental disorders YEATS2 100.00 0 Neurodevelopmental disorders YTHDC1 99.99 0 Neurodevelopmental disorders YWHAE 91.19 0 Neurodevelopmental disorders YY1 99.76 0 Neurodevelopmental disorders ZBTB11 100.00 0 Neurodevelopmental disorders ZBTB16 100.00 0 Neurodevelopmental disorders ZBTB18 99.54 0 Neurodevelopmental disorders ZBTB20 100.00 0 Neurodevelopmental disorders ZBTB24 100.00 0 Neurodevelopmental disorders ZC3H14 99.55 0 Neurodevelopmental disorders ZC3H4 99.95 0 Neurodevelopmental disorders ZCCHC12 100.00 0 Neurodevelopmental disorders ZDHHC15 98.46 0 Neurodevelopmental disorders ZDHHC9 100.00 0 Neurodevelopmental disorders ZEB2 99.96 0 Neurodevelopmental disorders ZFHX4 100.00 0 Neurodevelopmental disorders ZFP57 100.00 0 Neurodevelopmental disorders ZFYVE26 100.00 0 Neurodevelopmental disorders ZIC2 95.66 0 Neurodevelopmental disorders ZMYM3 99.98 0 Neurodevelopmental disorders ZMYND11 100.00 0 Neurodevelopmental disorders ZPR1 100.00 0 Neurodevelopmental disorders ZNF292 100.00 0 Neurodevelopmental disorders ZNF407 100.00 0 Neurodevelopmental disorders ZNF41 100.00 0 Neurodevelopmental disorders ZNF526 100.00 0 Neurodevelopmental disorders ZNF559 100.00 0 Neurodevelopmental disorders ZNF592 100.00 0 Neurodevelopmental disorders ZNF594 100.00 0 Neurodevelopmental disorders ZNF599 99.76 0 Neurodevelopmental disorders ZNF674 100.00 0 Neurodevelopmental disorders ZNF697 99.70 0 Neurodevelopmental disorders ZNF711 99.98 0 Neurodevelopmental disorders ZNF774 100.00 0 Neurodevelopmental disorders ZNF8 100.00 0 Neurodevelopmental disorders ZNF81 99.55 0 Neurodevelopmental disorders ZNF827 100.00 0 Neurodevelopmental disorders ZNRF3 94.23 0 Neurodevelopmental disorders ZWILCH 100.00 0 Neurodevelopmental disorders -
Neurodevelopmental disorders: developmental delay, intellectual disability, autistic disorders (1162 genes) - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments A2ML1 100.00 0 No comment ABCC6 100.00 0 No comment ABCC9 100.00 0 No comment ABCD1 99.93 0 No comment ABCD4 100.00 0 No comment ABCG5 100.00 0 No comment ABHD5 99.98 0 No comment ABI2 100.00 0 No comment ACAD9 100.00 0 No comment ACAT1 97.28 0 No comment ACO2 100.00 0 No comment ACOX1 100.00 0 No comment ACSF3 100.00 0 No comment ACSL4 100.00 0 No comment ACTB 100.00 0 No comment ACTG1 100.00 0 No comment ACVR1 100.00 0 No comment ACY1 100.00 0 No comment ADAR 100.00 0 No comment ADAT3 97.38 0 No comment ADCY5 94.52 0 No comment ADGRG1 100.00 0 No comment ADK 100.00 0 No comment ADNP 100.00 0 No comment ADRA2B 100.00 0 No comment ADSL 100.00 0 No comment AFF2 100.00 0 No comment AFF3 99.89 0 No comment AFP 100.00 0 No comment AGA 100.00 0 No comment AGBL4 100.00 0 No comment AGL 99.98 0 No comment AGPAT2 96.18 0 No comment AGXT 100.00 0 No comment AGTR2 100.00 0 No comment AHCY 100.00 0 No comment AHDC1 100.00 0 No comment AHI1 100.00 0 No comment AIFM1 100.00 0 No comment AIMP1 100.00 0 No comment AK1 100.00 0 No comment AKT1 100.00 0 No comment AKT1S1 99.49 0 No comment AKT3 100.00 0 No comment ALDH18A1 100.00 0 No comment ALDH3A2 99.95 0 No comment ALDH4A1 97.15 0 No comment ALDH5A1 83.59 0 No comment ALG1 92.65 0 No comment ALG11 100.00 0 No comment ALG12 100.00 0 No comment ALG13 99.96 0 No comment ALG2 99.94 0 No comment ALG3 99.22 0 No comment ALG6 100.00 0 No comment ALG9 98.65 0 No comment ALX1 100.00 0 No comment ALX4 99.70 0 No comment AMER1 100.00 0 No comment AMPD2 100.00 0 No comment AMT 99.94 0 No comment ANK2 100.00 0 No comment ANK3 100.00 0 No comment ANKH 100.00 0 No comment ANKRD11 100.00 0 No comment ANO10 100.00 0 No comment ANO3 100.00 0 No comment ANO5 100.00 0 No comment ANTXR1 100.00 0 No comment AP1S1 100.00 0 No comment AP1S2 100.00 0 No comment AP3B1 100.00 0 No comment AP4B1 100.00 0 No comment AP4E1 100.00 0 No comment AP4M1 100.00 0 No comment AP4S1 87.40 0 No comment APAF1 100.00 0 No comment APC 100.00 0 No comment APTX 100.00 0 No comment AQP7 100.00 0 No comment AR 99.29 0 No comment ARFGEF2 100.00 0 No comment ARG1 100.00 0 No comment ARHGEF4 100.00 0 No comment ARHGEF6 100.00 0 No comment ARHGEF7 99.95 0 No comment ARHGEF9 100.00 0 No comment ARID1A 94.64 0 No comment ARID1B 92.99 0 No comment ARID2 100.00 0 No comment ARL13B 100.00 0 No comment ARL6 100.00 0 No comment ARSL 100.00 0 No comment ARX 78.98 0 No comment ASH1L 100.00 0 No comment ASL 100.00 0 No comment ASNS 100.00 0 No comment ASPA 100.00 0 No comment ASPM 100.00 0 No comment ASS1 99.87 0 No comment ASTN2 91.86 0 No comment ASXL1 99.91 0 No comment ASXL3 100.00 0 No comment ATIC 99.06 0 No comment ATL1 100.00 0 No comment ATM 100.00 0 No comment ATP13A2 99.17 0 No comment ATP1A2 100.00 0 No comment ATP2A2 100.00 0 No comment ATP6AP2 99.95 0 No comment ATP6V0A2 100.00 0 No comment ATP7A 100.00 0 No comment ATP8A2 99.93 0 No comment ATRX 100.00 0 No comment ATXN1 100.00 0 No comment AUH 96.44 0 No comment AUTS2 98.20 0 No comment NLRP3 100.00 0 No comment AVPR2 100.00 0 No comment AXIN1 100.00 0 No comment B3GLCT 94.89 0 No comment B4GALT1 100.00 0 No comment B4GALT7 93.23 0 No comment BBS1 100.00 0 No comment BBS10 100.00 0 No comment BBS12 100.00 0 No comment BBS2 100.00 0 No comment BBS4 100.00 0 No comment BBS5 100.00 0 No comment BBS7 100.00 0 No comment BBS9 100.00 0 No comment BCKDHA 100.00 0 No comment BCKDHB 100.00 0 No comment BCL11A 100.00 0 No comment BCOR 100.00 0 No comment BCS1L 100.00 0 No comment BIN1 100.00 0 No comment BIRC6 100.00 0 No comment BLM 100.00 0 No comment BRAF 96.97 0 No comment BRCA2 100.00 0 No comment BRIP1 100.00 0 No comment BRWD3 100.00 0 No comment BSCL2 100.00 0 No comment BTD 100.00 0 No comment BUB1B 100.00 0 No comment C12ORF57 100.00 0 No comment MTRFR 100.00 0 No comment CA2 100.00 0 No comment CA8 100.00 0 No comment CACNA1A 98.78 0 No comment CACNA1B 96.03 0 No comment CACNA1C 100.00 0 No comment CACNA1D 100.00 0 No comment CACNA1F 99.89 0 No comment CACNA1G 100.00 0 No comment CACNA1H 97.35 0 No comment CACNA2D3 98.60 0 No comment CACNB2 100.00 0 No comment CACNG2 100.00 0 No comment CALM1 100.00 0 No comment CAMK2B 99.93 0 No comment CAMTA1 99.39 0 No comment CANT1 100.00 0 No comment CASK 100.00 0 No comment CBL 100.00 0 No comment CBS 100.00 0 No comment CC2D1A 100.00 0 No comment CC2D2A 98.16 0 No comment CCAR2 100.00 0 No comment CCBE1 99.97 0 No comment CCDC22 99.93 0 No comment CCDC39 100.00 0 No comment CCDC78 100.00 0 No comment CCDC88C 99.92 0 No comment CCNT1 100.00 0 No comment CCSER1 100.00 0 No comment CD163L1 100.00 0 No comment CDH15 97.06 0 No comment CDK5RAP2 100.00 0 No comment CDK6 100.00 0 No comment CDKL5 100.00 0 No comment CDKN1C 62.25 0 No comment CDON 100.00 0 No comment CELSR1 93.72 0 No comment CENPE 100.00 0 No comment CENPJ 100.00 0 No comment CEP135 100.00 0 No comment CEP152 100.00 0 No comment CEP290 99.99 0 No comment CEP41 100.00 0 No comment CEP55 100.00 0 No comment CEP57 100.00 0 No comment CFAP53 100.00 0 No comment CHAMP1 100.00 0 No comment CHAT 100.00 0 No comment CHD1 100.00 0 No comment CHD2 100.00 0 No comment CHD3 97.58 0 No comment CHD7 100.00 0 No comment CHD8 100.00 0 No comment CHKB 99.69 0 No comment CHRNA2 100.00 0 No comment CHRNA4 97.18 0 No comment CHRND 100.00 0 No comment CIC 99.99 0 No comment CLCN4 100.00 0 No comment CLCN7 94.99 0 No comment CLCNKB 100.00 0 No comment CLIC2 100.00 0 No comment CLIP1 100.00 0 No comment CLN3 100.00 0 No comment CLN5 99.94 0 No comment CLN6 90.35 0 No comment CLN8 100.00 0 No comment CLTC 100.00 0 No comment CMIP 99.97 0 No comment CNKSR2 100.00 0 No comment CNOT1 100.00 0 No comment CNOT3 100.00 0 No comment CNOT4 100.00 0 No comment CNOT6 100.00 0 No comment CNTN3 100.00 0 No comment CNTN4 100.00 0 No comment CNTNAP2 99.85 0 No comment COG1 99.24 0 No comment COG5 100.00 0 No comment COG6 100.00 0 No comment COG7 100.00 0 No comment COG8 100.00 0 No comment COL11A1 100.00 0 No comment COL1A2 99.93 0 No comment COL4A1 98.71 0 No comment COL4A2 100.00 0 No comment CERT1 100.00 0 No comment COLEC11 100.00 0 No comment COQ2 97.15 0 No comment COQ8A 100.00 0 No comment COX10 100.00 0 No comment COX15 100.00 0 No comment CP 100.00 0 No comment CYP2A6 100.00 0 No comment CPLANE1 100.00 0 No comment CYP21A2 100.00 0 No comment CRADD 100.00 0 No comment CRBN 100.00 0 No comment CREB1 100.00 0 No comment CREBBP 100.00 0 No comment CRPPA 95.75 0 No comment CSTF2T 100.00 0 No comment CTC1 100.00 0 No comment CTCF 100.00 0 No comment CTDP1 89.61 0 No comment CTNNB1 100.00 0 No comment CTNND2 93.57 0 No comment CTSA 100.00 0 No comment CTSD 99.45 0 No comment CTTNBP2 99.32 0 No comment CUBN 100.00 0 No comment CUL3 100.00 0 No comment CUL4B 100.00 0 No comment CUL5 100.00 0 No comment CUX2 100.00 0 No comment CYB5R3 96.25 0 No comment CYFIP1 100.00 0 No comment CYP27A1 99.68 0 No comment D2HGDH 100.00 0 No comment DAB1 100.00 0 No comment DAG1 100.00 0 No comment DAGLA 100.00 0 No comment DARS2 100.00 0 No comment DBT 100.00 0 No comment DCAF17 96.47 0 No comment DCLK2 100.00 0 No comment DCX 100.00 0 No comment DDHD2 100.00 0 No comment DDX11 100.00 0 No comment DDX3X 100.00 0 No comment DEAF1 87.03 0 No comment DHCR24 99.96 0 No comment DHCR7 100.00 0 No comment DHDDS 100.00 0 No comment DHFR 99.48 0 No comment DHTKD1 99.98 0 No comment DHX9 100.00 0 No comment DIAPH1 99.15 0 No comment DIAPH3 100.00 0 No comment DIP2A 99.92 0 No comment DIP2B 99.88 0 No comment DIPK2A 99.79 0 No comment DISC1 86.36 0 No comment DKC1 100.00 0 No comment DLD 100.00 0 No comment DLG2 100.00 0 No comment DLG3 99.83 0 No comment DLG4 100.00 0 No comment DMD 100.00 0 No comment DMPK 99.97 0 No comment DNAH5 100.00 0 No comment DNAJC19 100.00 0 No comment DNM1 94.44 0 No comment DNMT1 100.00 0 No comment DNMT3A 100.00 0 No comment DNMT3B 100.00 0 No comment DOCK8 99.43 0 No comment DPAGT1 100.00 0 No comment DPM1 100.00 0 No comment DPP6 96.95 0 No comment DPYD 100.00 0 No comment DSCAM 100.00 0 No comment DST 100.00 0 No comment DUSP15 83.99 0 No comment DYM 100.00 0 No comment DYNC1H1 100.00 0 No comment DYRK1A 100.00 0 No comment GLB1 100.00 0 No comment ECM2 100.00 0 No comment EFCAB5 97.32 0 No comment EFNB1 100.00 0 No comment EFTUD2 100.00 0 No comment EHMT1 98.85 0 No comment EIF2AK3 95.52 0 No comment EIF2S3 100.00 0 No comment EIF3G 100.00 0 No comment EIF4A1 100.00 0 No comment EIF4G1 100.00 0 No comment ELK1 100.00 0 No comment ELOVL4 100.00 0 No comment ELP2 100.00 0 No comment EML1 97.08 0 No comment EMX2 100.00 0 No comment EN2 88.10 0 No comment EP300 100.00 0 No comment EP400 100.00 0 No comment EPB41L1 100.00 0 No comment EPHA5 99.98 0 No comment EPHB2 97.39 0 No comment ERBB4 100.00 0 No comment ERCC2 100.00 0 No comment ERCC3 100.00 0 No comment ERCC5 100.00 0 No comment ERCC6 100.00 0 No comment ERCC8 100.00 0 No comment ERLIN2 100.00 0 No comment ESCO2 100.00 0 No comment ETFB 100.00 0 No comment ETHE1 99.88 0 No comment EXOSC3 100.00 0 No comment EXT1 100.00 0 No comment EZH2 100.00 0 No comment EZR 100.00 0 No comment F5 100.00 0 No comment FAAH2 100.00 0 No comment HYCC1 100.00 0 No comment FANCB 100.00 0 No comment FANCD2 100.00 0 No comment FANCG 100.00 0 No comment FBLN5 100.00 0 No comment FBN1 100.00 0 No comment FBN2 100.00 0 No comment FBXO31 91.75 0 No comment FBXO33 90.47 0 No comment FEZF2 97.53 0 No comment FGD1 99.39 0 No comment FGF12 100.00 0 No comment FGF14 99.99 0 No comment FGFR1 100.00 0 No comment FGFR2 100.00 0 No comment FGFR3 99.26 0 No comment FH 100.00 0 No comment FIGN 100.00 0 No comment FKRP 98.68 0 No comment FKTN 100.00 0 No comment FLNA 100.00 0 No comment FLVCR1 100.00 0 No comment FMN2 99.94 0 No comment FMR1 100.00 0 No comment FOLR1 100.00 0 No comment FOXG1 85.88 0 No comment FOXP1 100.00 0 No comment FOXP2 100.00 0 No comment FOXP3 100.00 0 No comment FRAS1 100.00 0 No comment FRMPD4 100.00 0 No comment FTCD 98.36 0 No comment FTO 100.00 0 No comment FTSJ1 100.00 0 No comment FUCA1 100.00 0 No comment G6PC3 100.00 0 No comment GABRA1 100.00 0 No comment GABRA5 100.00 0 No comment GABRB2 100.00 0 No comment GABRB3 99.79 0 No comment GABRG2 92.03 0 No comment GABRG3 99.96 0 No comment GAD1 100.00 0 No comment GALE 100.00 0 No comment GALK1 99.95 0 No comment GALNT18 100.00 0 No comment GALT 100.00 0 No comment GAMT 98.60 0 No comment GAN 99.52 0 No comment GARS1 99.53 0 No comment GAS2 100.00 0 No comment GATAD2B 100.00 0 No comment GATM 99.26 0 No comment GBA1 100.00 0 No comment GBE1 100.00 0 No comment GCH1 96.30 0 No comment GCK 100.00 0 No comment GCOM1 94.20 0 No comment GCSH 76.04 0 No comment GDI1 100.00 0 No comment GFAP 100.00 0 No comment GFM1 100.00 0 No comment GHR 99.82 0 No comment GIGYF1 100.00 0 No comment GJB1 99.54 0 No comment GJB6 100.00 0 No comment GJC2 81.91 0 No comment GK 99.94 0 No comment GLDC 96.53 0 No comment GLI2 95.11 0 No comment GLI3 100.00 0 No comment GLO1 100.00 0 No comment GLRA1 100.00 0 No comment GLUL 100.00 0 No comment GLYCTK 100.00 0 No comment GM2A 100.00 0 No comment GMPPA 100.00 0 No comment GMPPB 100.00 0 No comment GNAO1 100.00 0 No comment GNAQ 100.00 0 No comment GNAS 98.96 0 No comment GNPAT 100.00 0 No comment GNPTAB 100.00 0 No comment GNPTG 94.69 0 No comment GNRHR 100.00 0 No comment GNS 100.00 0 No comment GORASP2 99.92 0 No comment GP1BB 25.16 0 No comment GPC3 100.00 0 No comment GPHN 100.00 0 No comment GPR37 100.00 0 No comment GPT2 96.29 0 No comment GRIA3 100.00 0 No comment GRID2 100.00 0 No comment GRIK2 100.00 0 No comment GRIN1 99.97 0 No comment GRIN2A 100.00 0 No comment GRIN2B 100.00 0 No comment GRIN3B 86.11 0 No comment GRM1 100.00 0 No comment GSE1 99.97 0 No comment GSPT2 100.00 0 No comment GSS 100.00 0 No comment GTF2H5 100.00 0 No comment GTF2IRD1 100.00 0 No comment GTF3C1 100.00 0 No comment GUSB 100.00 0 No comment GYS2 100.00 0 No comment HAL 100.00 0 No comment HAX1 100.00 0 No comment HCCS 100.00 0 No comment HCFC1 100.00 0 No comment HCN1 95.88 0 No comment HDAC4 100.00 0 No comment HDAC6 100.00 0 No comment HDAC8 100.00 0 No comment HDAC9 100.00 0 No comment HECTD1 100.00 0 No comment HECW2 100.00 0 No comment HEPACAM 96.82 0 No comment HERC1 100.00 0 No comment HERC2 99.62 0 No comment HESX1 100.00 0 No comment HEXA 100.00 0 No comment HEXB 99.82 0 No comment H4C2 100.00 0 No comment HIVEP2 100.00 0 No comment HLCS 100.00 0 No comment HMGA2 81.94 0 No comment HNRNPU 99.54 0 No comment HNRNPUL1 99.73 0 No comment HOXA1 100.00 0 No comment HOXB1 100.00 0 No comment HOXD10 100.00 0 No comment HPD 100.00 0 No comment HPRT1 94.60 0 No comment HRAS 100.00 0 No comment HSD17B10 100.00 0 No comment HSPA4 100.00 0 No comment HSPD1 99.53 0 No comment HTR2A 100.00 0 No comment HUWE1 100.00 0 No comment IDH2 92.01 0 No comment IDS 100.00 0 No comment IDUA 88.67 0 No comment IER3IP1 99.93 0 No comment IFT172 100.00 0 No comment IGBP1 100.00 0 No comment IGF1 100.00 0 No comment IGF1R 100.00 0 No comment IKBKG 99.74 0 No comment IL1RAPL1 100.00 0 No comment ILF2 100.00 0 No comment INPP5E 99.54 0 No comment INSR 97.31 0 No comment IQSEC2 99.73 0 No comment IRS1 100.00 0 No comment IRX5 94.92 0 No comment ITGA7 100.00 0 No comment ITGB3 97.94 0 No comment ITPR1 100.00 0 No comment JADE2 100.00 0 No comment JAG1 99.66 0 No comment JAM3 100.00 0 No comment JUP 100.00 0 No comment KANK1 100.00 0 No comment KANSL1 100.00 0 No comment KAT6A 100.00 0 No comment KAT6B 100.00 0 No comment KATNAL2 100.00 0 No comment KCNA1 100.00 0 No comment KCNH1 100.00 0 No comment KCNJ10 100.00 0 No comment KCNJ11 100.00 0 No comment KCNK9 100.00 0 No comment KCNMA1 99.94 0 No comment KCNQ2 99.98 0 No comment KCNQ3 96.44 0 No comment KCNQ4 92.42 0 No comment KCNT1 99.74 0 No comment KCTD7 97.35 0 No comment KDM5A 100.00 0 No comment KDM5B 100.00 0 No comment KDM5C 100.00 0 No comment KDM6A 100.00 0 No comment KDM6B 99.91 0 No comment BLTP1 100.00 0 No comment KIF11 100.00 0 No comment KIF1A 99.90 0 No comment KIFBP 100.00 0 No comment KIF21A 99.23 0 No comment KIF2A 98.88 0 No comment KIF4A 100.00 0 No comment KIF5A 100.00 0 No comment KIF5C 100.00 0 No comment KIF7 96.94 0 No comment KIRREL3 100.00 0 No comment KIT 100.00 0 No comment KLC2 100.00 0 No comment KLF8 100.00 0 No comment KMT2A 98.66 0 No comment KMT2C 100.00 0 No comment KMT2D 100.00 0 No comment KMT2E 100.00 0 No comment KMT5B 100.00 0 No comment KPTN 100.00 0 No comment KRAS 100.00 0 No comment KRBOX4 100.00 0 No comment KRT24 100.00 0 No comment L1CAM 100.00 0 No comment L2HGDH 99.96 0 No comment LAMA1 99.93 0 No comment LAMA2 100.00 0 No comment LAMB1 100.00 0 No comment LAMC3 97.51 0 No comment LAMP2 100.00 0 No comment LARGE1 100.00 0 No comment LARP7 100.00 0 No comment LAS1L 100.00 0 No comment LBR 100.00 0 No comment LCT 100.00 0 No comment LHX3 94.36 0 No comment LIG4 100.00 0 No comment LINS1 100.00 0 No comment LMBRD1 100.00 0 No comment LRP1 100.00 0 No comment LRP2 99.96 0 No comment LRP5 97.87 0 No comment LRPPRC 99.14 0 No comment LRRC7 100.00 0 No comment LYST 100.00 0 No comment MACF1 100.00 0 No comment MAGEL2 99.43 0 No comment MAGT1 100.00 0 No comment MAN1B1 99.99 0 No comment MAN2B1 100.00 0 No comment MANBA 99.97 0 No comment MAOA 99.95 0 No comment MAP2 100.00 0 No comment MAP2K1 100.00 0 No comment MAP2K2 99.98 0 No comment MAPK1 93.93 0 No comment MAPT 100.00 0 No comment MAT1A 100.00 0 No comment MBD3 99.22 0 No comment MBD5 100.00 0 No comment MBTPS2 100.00 0 No comment MCCC1 100.00 0 No comment MCCC2 99.99 0 No comment MCOLN1 97.27 0 No comment MCPH1 100.00 0 No comment MDM2 100.00 0 No comment MECP2 98.28 0 No comment MED12 99.96 0 No comment MED13L 100.00 0 No comment MED17 100.00 0 No comment MED23 100.00 0 No comment MEF2C 100.00 0 No comment MET 100.00 0 No comment METTL23 100.00 0 No comment MFRP 100.00 0 No comment MFSD8 100.00 0 No comment MGAT2 100.00 0 No comment MIB1 100.00 0 No comment MID1 100.00 0 No comment MID2 100.00 0 No comment MIR222 100.00 0 No comment MKKS 100.00 0 No comment MLH1 100.00 0 No comment MLYCD 85.50 0 No comment MMAA 100.00 0 No comment MMACHC 100.00 0 No comment MMADHC 100.00 0 No comment MMUT 100.00 0 No comment MOCS1 99.95 0 No comment MOCS2 100.00 0 No comment MOGS 98.73 0 No comment MPDU1 100.00 0 No comment MPDZ 100.00 0 No comment MPHOSPH8 100.00 0 No comment MPI 100.00 0 No comment MPLKIP 100.00 0 No comment MPZ 100.00 0 No comment MRAP 100.00 0 No comment MRPS22 100.00 0 No comment MSH6 100.00 0 No comment MTFMT 99.11 0 No comment MTHFR 100.00 0 No comment MTHFS 99.64 0 No comment MTM1 100.00 0 No comment MTMR2 100.00 0 No comment MTR 100.00 0 No comment MTRR 100.00 0 No comment MVK 100.00 0 No comment MYCN 86.70 0 No comment MYH7B 100.00 0 No comment MYH9 100.00 0 No comment MYO1E 99.92 0 No comment MYO3A 100.00 0 No comment MYO5A 99.60 0 No comment MYO7A 100.00 0 No comment MYOC 100.00 0 No comment MYT1L 100.00 0 No comment NAA10 96.03 0 No comment NAA15 100.00 0 No comment NAGA 100.00 0 No comment NAGLU 87.38 0 No comment NALCN 100.00 0 No comment NBN 100.00 0 No comment NCKAP1 100.00 0 No comment NDE1 100.00 0 No comment NDP 100.00 0 No comment NDST1 100.00 0 No comment NDUFA1 100.00 0 No comment NDUFA11 98.06 0 No comment NDUFA12 100.00 0 No comment NDUFAF5 100.00 0 No comment NDUFS1 100.00 0 No comment NDUFS2 100.00 0 No comment NDUFS3 100.00 0 No comment NDUFS4 100.00 0 No comment NDUFS7 99.49 0 No comment NDUFS8 100.00 0 No comment NDUFV1 100.00 0 No comment NECTIN1 100.00 0 No comment NEDD4L 100.00 0 No comment NEU1 100.00 0 No comment NEXMIF 100.00 0 No comment NF1 99.95 0 No comment NFATC1 99.84 0 No comment NFIA 100.00 0 No comment NFIX 97.15 0 No comment NGF 100.00 0 No comment NHEJ1 100.00 0 No comment NHP2 100.00 0 No comment NHS 93.25 0 No comment NIPBL 99.98 0 No comment NKX2-1 92.46 0 No comment NLGN1 100.00 0 No comment NLGN3 100.00 0 No comment NLGN4X 100.00 0 No comment NLGN4Y 55.32 0 No comment NOG 100.00 0 No comment NOTCH3 92.99 0 No comment NPC1 98.40 0 No comment NPC2 100.00 0 No comment NPHP1 100.00 0 No comment NPHP3 99.87 0 No comment NR2F1 92.00 0 No comment NR3C2 100.00 0 No comment NR4A2 100.00 0 No comment NRAS 100.00 0 No comment NRCAM 100.00 0 No comment NRXN1 98.52 0 No comment NRXN2 88.11 0 No comment NSD1 100.00 0 No comment NSD2 100.00 0 No comment NSDHL 100.00 0 No comment NSUN2 99.70 0 No comment NTRK1 98.72 0 No comment NTRK2 100.00 0 No comment NUAK1 99.97 0 No comment NUS1 100.00 0 No comment NXF5 100.00 0 No comment OBSL1 98.31 0 No comment OCA2 100.00 0 No comment OCLN 100.00 0 No comment OCRL 99.77 0 No comment OFD1 99.88 0 No comment OPHN1 100.00 0 No comment SLC25A15 100.00 0 No comment OTC 100.00 0 No comment OXTR 91.19 0 No comment PACS1 96.93 0 No comment PAFAH1B1 100.00 0 No comment PAH 99.94 0 No comment PAK3 100.00 0 No comment PANK2 98.60 0 No comment PARP1 100.00 0 No comment PAX1 89.02 0 No comment PAX5 100.00 0 No comment PAX6 100.00 0 No comment PAX8 100.00 0 No comment PBRM1 100.00 0 No comment PODXL 100.00 0 No comment PCDH10 100.00 0 No comment PCDH19 99.91 0 No comment PCGF2 100.00 0 No comment PCNT 100.00 0 No comment PDE1C 100.00 0 No comment PDE4D 98.77 0 No comment PDE8B 96.32 0 No comment PDHA1 98.17 0 No comment PDHX 99.87 0 No comment PDSS1 86.24 0 No comment PDSS2 100.00 0 No comment PEPD 99.77 0 No comment PER2 100.00 0 No comment PEX1 100.00 0 No comment PEX10 88.47 0 No comment PEX11B 100.00 0 No comment PEX12 100.00 0 No comment PEX13 100.00 0 No comment PEX16 100.00 0 No comment PEX19 100.00 0 No comment PEX2 100.00 0 No comment PEX26 100.00 0 No comment PEX3 100.00 0 No comment PEX5 100.00 0 No comment PEX6 98.56 0 No comment PEX7 91.13 0 No comment PGA5 100.00 0 No comment PGAP1 100.00 0 No comment PGAP2 100.00 0 No comment PGAP3 99.90 0 No comment PGK1 100.00 0 No comment PHF2 99.71 0 No comment PHF21A 100.00 0 No comment PHF6 100.00 0 No comment PHF8 100.00 0 No comment PHGDH 100.00 0 No comment PHIP 99.09 0 No comment PHKA2 100.00 0 No comment PHKG2 100.00 0 No comment PIAS1 100.00 0 No comment PIGA 100.00 0 No comment PIGL 100.00 0 No comment PIGN 100.00 0 No comment PIGO 100.00 0 No comment PIGT 100.00 0 No comment PIGV 100.00 0 No comment PIK3R2 89.19 0 No comment PLA2G6 100.00 0 No comment PLCB1 100.00 0 No comment PLP1 100.00 0 No comment PMM2 100.00 0 No comment PNKP 100.00 0 No comment PNP 100.00 0 No comment POC1A 99.95 0 No comment POGZ 100.00 0 No comment POLG 100.00 0 No comment POLR2M 100.00 0 No comment POLR3A 100.00 0 No comment POLR3B 100.00 0 No comment POMGNT1 100.00 0 No comment POMGNT2 100.00 0 No comment POMT1 100.00 0 No comment POMT2 99.90 0 No comment PORCN 100.00 0 No comment POT1 100.00 0 No comment POU1F1 100.00 0 No comment POU3F4 100.00 0 No comment PPM1D 100.00 0 No comment HCRT 100.00 0 No comment PPP1R1B 100.00 0 No comment PPP2R1A 100.00 0 No comment PPP2R5D 100.00 0 No comment PPT1 100.00 0 No comment PQBP1 100.00 0 No comment PRICKLE1 100.00 0 No comment PRKAR1A 100.00 0 No comment PRKRA 90.07 0 No comment PRODH 86.43 0 No comment PRPS1 100.00 0 No comment PRRT2 100.00 0 No comment PRSS12 99.65 0 No comment PSAP 100.00 0 No comment PSEN1 100.00 0 No comment PTCH1 98.48 0 No comment PTCHD1 99.99 0 No comment PTDSS1 100.00 0 No comment PTEN 98.86 0 No comment PTHLH 100.00 0 No comment PTPN11 98.80 0 No comment PUF60 99.86 0 No comment PURA 85.32 0 No comment PUS1 99.08 0 No comment PYCR1 100.00 0 No comment PYGL 100.00 0 No comment RAB11A 100.00 0 No comment RAB18 100.00 0 No comment RAB27A 100.00 0 No comment RAB39B 100.00 0 No comment RAB3GAP1 100.00 0 No comment RAB3GAP2 100.00 0 No comment RAB40AL 100.00 0 No comment RABL6 99.93 0 No comment RAC1 93.90 0 No comment RAD21 100.00 0 No comment RAF1 100.00 0 No comment RAI1 96.06 0 No comment RALGDS 94.60 0 No comment RANBP17 98.90 0 No comment RAPSN 100.00 0 No comment RARS2 100.00 0 No comment RASGEF1B 100.00 0 No comment RBBP8 100.00 0 No comment RBFOX1 99.94 0 No comment RBL2 99.65 0 No comment RBM10 100.00 0 No comment RBM28 99.99 0 No comment RELN 99.96 0 No comment RERE 99.97 0 No comment RFT1 100.00 0 No comment RFX3 100.00 0 No comment RFX6 100.00 0 No comment RIC8A 100.00 0 No comment RIMS1 99.79 0 No comment RIT1 100.00 0 No comment RMND1 100.00 0 No comment RMRP 100.00 0 No comment RNASEH2A 100.00 0 No comment RNASEH2B 95.67 0 No comment RNASEH2C 100.00 0 No comment RNASET2 99.98 0 No comment RNF213 100.00 0 No comment ROGDI 91.80 0 No comment RP2 100.00 0 No comment RPGRIP1L 96.45 0 No comment RPL15 100.00 0 No comment RPS6KA2 98.15 0 No comment RPS6KA3 98.71 0 No comment RTEL1 100.00 0 No comment RTN2 99.98 0 No comment RUBCN 97.68 0 No comment RUNX1 99.96 0 No comment RUVBL1 100.00 0 No comment RYR1 98.38 0 No comment RYR2 100.00 0 No comment S100G 100.00 0 No comment SACS 99.97 0 No comment SALL1 100.00 0 No comment SAMHD1 100.00 0 No comment SARS2 100.00 0 No comment SATB2 100.00 0 No comment SBF1 98.81 0 No comment SC5D 100.00 0 No comment SCAPER 100.00 0 No comment SCN1A 100.00 0 No comment SCN2A 100.00 0 No comment SCN7A 100.00 0 No comment SCN8A 100.00 0 No comment SCN9A 100.00 0 No comment SCO2 100.00 0 No comment SDCCAG8 100.00 0 No comment SDHA 98.02 0 No comment SDK1 95.93 0 No comment SERAC1 100.00 0 No comment SERPINB12 100.00 0 No comment SETBP1 99.99 0 No comment SETD5 100.00 0 No comment NR5A1 86.69 0 No comment SFPQ 98.66 0 No comment SGCA 100.00 0 No comment SGSH 99.99 0 No comment SHANK1 96.45 0 No comment SHANK2 100.00 0 No comment SHANK3 83.99 0 No comment SHH 92.83 0 No comment SHOC2 100.00 0 No comment SHOX 90.47 0 No comment SHROOM4 100.00 0 No comment SIL1 100.00 0 No comment SIN3A 99.82 0 No comment SIX3 99.59 0 No comment HHAT 90.28 0 No comment SLC12A6 100.00 0 No comment SLC16A2 100.00 0 No comment SLC17A5 100.00 0 No comment SLC1A1 100.00 0 No comment SLC1A4 97.95 0 No comment SLC20A2 100.00 0 No comment SLC24A2 100.00 0 No comment SLC25A1 93.77 0 No comment SLC25A12 100.00 0 No comment SLC25A13 99.94 0 No comment SLC25A22 100.00 0 No comment SLC25A24 99.82 0 No comment SLC26A9 100.00 0 No comment SLC2A1 99.94 0 No comment SLC2A2 100.00 0 No comment SLC33A1 100.00 0 No comment SLC35A2 100.00 0 No comment SLC35C1 100.00 0 No comment SLC46A1 99.95 0 No comment SLC4A4 100.00 0 No comment SLC5A2 100.00 0 No comment SLC5A5 100.00 0 No comment SLC6A1 100.00 0 No comment SLC6A17 100.00 0 No comment SLC6A3 100.00 0 No comment SLC6A4 100.00 0 No comment SLC6A8 98.78 0 No comment SLC7A7 100.00 0 No comment SLC9A6 99.96 0 No comment SLC9A9 100.00 0 No comment SLCO1B1 100.00 0 No comment SLCO1B3 100.00 0 No comment SLX4 100.00 0 No comment SMAD2 100.00 0 No comment SMAD4 100.00 0 No comment SMARCA2 98.07 0 No comment SMARCA4 100.00 0 No comment SMARCB1 100.00 0 No comment SMARCC2 100.00 0 No comment SMARCE1 100.00 0 No comment SMC1A 100.00 0 No comment SMC3 100.00 0 No comment SMG6 97.90 0 No comment SMOC1 99.36 0 No comment SMPD1 100.00 0 No comment SNAP29 100.00 0 No comment SNIP1 100.00 0 No comment SNX14 100.00 0 No comment SNX19 100.00 0 No comment SOBP 87.96 0 No comment SOS1 100.00 0 No comment SOX10 96.79 0 No comment SOX11 99.01 0 No comment SOX2 98.05 0 No comment SOX3 85.62 0 No comment SOX5 100.00 0 No comment SPAST 100.00 0 No comment SPG11 100.00 0 No comment SPG7 96.56 0 No comment SPR 96.81 0 No comment SPRED1 100.00 0 No comment SPTAN1 100.00 0 No comment SPTLC1 99.99 0 No comment SRCAP 100.00 0 No comment SRD5A3 99.42 0 No comment SREBF2 100.00 0 No comment SRGAP3 100.00 0 No comment SRPX2 100.00 0 No comment ST3GAL3 100.00 0 No comment ST3GAL5 92.64 0 No comment STAG1 100.00 0 No comment STAT5B 100.00 0 No comment STIL 100.00 0 No comment STRA6 100.00 0 No comment STS 100.00 0 No comment STT3A 100.00 0 No comment STT3B 99.25 0 No comment STX11 100.00 0 No comment STXBP1 100.00 0 No comment STXBP5 100.00 0 No comment SUCLA2 100.00 0 No comment SUCLG1 95.74 0 No comment SUOX 100.00 0 No comment SUPT16H 100.00 0 No comment SURF1 87.74 0 No comment SYN1 95.92 0 No comment SYNE1 100.00 0 No comment SYNGAP1 100.00 0 No comment SYP 99.27 0 No comment SYT14 93.04 0 No comment SYT3 100.00 0 No comment TAF1 100.00 0 No comment TAF2 100.00 0 No comment TAT 100.00 0 No comment TBC1D24 100.00 0 No comment TBC1D7 100.00 0 No comment TBCE 100.00 0 No comment TBR1 94.13 0 No comment TBX1 77.39 0 No comment TCF20 100.00 0 No comment TCF3 100.00 0 No comment TCF4 100.00 0 No comment TCF7L2 99.98 0 No comment TECR 100.00 0 No comment TENM1 100.00 0 No comment TFAP2A 100.00 0 No comment TGFBR1 92.91 0 No comment TGFBR2 100.00 0 No comment TGIF1 100.00 0 No comment TGM1 100.00 0 No comment TH 99.95 0 No comment THOC2 99.99 0 No comment THOC6 100.00 0 No comment THRA 100.00 0 No comment THRB 100.00 0 No comment TIMM8A 100.00 0 No comment TINF2 100.00 0 No comment TMCO1 100.00 0 No comment TMEM107 100.00 0 No comment TMEM135 100.00 0 No comment TMEM165 89.91 0 No comment TMEM216 100.00 0 No comment TMEM231 100.00 0 No comment TMEM237 99.97 0 No comment TMEM67 100.00 0 No comment TMEM70 100.00 0 No comment TMLHE 100.00 0 No comment TNK2 100.00 0 No comment TNRC6B 100.00 0 No comment TOPORS 100.00 0 No comment TOR1A 99.99 0 No comment TDO2 100.00 0 No comment TPK1 100.00 0 No comment THPO 99.84 0 No comment ACD 100.00 0 No comment TRAPPC10 99.93 0 No comment TRAPPC11 100.00 0 No comment TRAPPC9 99.98 0 No comment TREX1 100.00 0 No comment TRHR 100.00 0 No comment TRIM10 100.00 0 No comment TRIM3 100.00 0 No comment TRIM32 100.00 0 No comment TRIO 97.46 0 No comment TRIP12 100.00 0 No comment TRMT1 100.00 0 No comment TRMT10A 100.00 0 No comment TRPM6 100.00 0 No comment TRPV4 100.00 0 No comment TSC1 100.00 0 No comment TSC2 100.00 0 No comment TSEN54 94.23 0 No comment TSHR 100.00 0 No comment TSPAN7 99.99 0 No comment TSPOAP1 99.98 0 No comment SKIC3 100.00 0 No comment TTC8 100.00 0 No comment TTI1 100.00 0 No comment TTI2 100.00 0 No comment TTR 100.00 0 No comment TUBA1A 100.00 0 No comment TUBA8 100.00 0 No comment TUBB2B 100.00 0 No comment TUBB3 98.24 0 No comment TUBGCP6 100.00 0 No comment TUSC3 100.00 0 No comment TWIST1 70.93 0 No comment UBE2A 99.62 0 No comment UBE3A 100.00 0 No comment UBE3B 100.00 0 No comment UBR1 100.00 0 No comment UBTF 100.00 0 No comment UPB1 100.00 0 No comment UPF3B 100.00 0 No comment UROC1 100.00 0 No comment USP9X 100.00 0 No comment UTP6 100.00 0 No comment VCP 98.45 0 No comment VLDLR 96.53 0 No comment VPS13B 99.25 0 No comment VPS39 100.00 0 No comment VPS4A 100.00 0 No comment VRK1 100.00 0 No comment WAC 100.00 0 No comment WASHC4 99.72 0 No comment WDFY3 100.00 0 No comment WDR11 100.00 0 No comment WDR13 100.00 0 No comment WDR19 100.00 0 No comment WDR26 100.00 0 No comment WDR45 100.00 0 No comment WDR45B 100.00 0 No comment WDR62 100.00 0 No comment WDR81 99.97 0 No comment WNT2 100.00 0 No comment WRN 100.00 0 No comment WWOX 100.00 0 No comment XPA 99.35 0 No comment XPNPEP3 93.18 0 No comment XPO5 100.00 0 No comment XYLT1 88.83 0 No comment YAP1 96.50 0 No comment YEATS2 100.00 0 No comment YWHAE 98.69 0 No comment YY1 99.92 0 No comment ZBTB16 100.00 0 No comment ZBTB18 100.00 0 No comment ZBTB20 100.00 0 No comment ZBTB24 100.00 0 No comment ZC3H14 100.00 0 No comment ZC3H4 99.94 0 No comment ZCCHC12 100.00 0 No comment ZDHHC15 100.00 0 No comment ZDHHC9 100.00 0 No comment ZEB2 100.00 0 No comment ZFHX4 100.00 0 No comment ZFP57 100.00 0 No comment ZFYVE26 100.00 0 No comment ZIC2 80.54 0 No comment ZMYM3 100.00 0 No comment ZMYND11 100.00 0 No comment ZNF292 100.00 0 No comment ZNF407 100.00 0 No comment ZNF41 100.00 0 No comment ZNF526 100.00 0 No comment ZNF559 100.00 0 No comment ZNF592 100.00 0 No comment ZNF594 100.00 0 No comment ZNF599 100.00 0 No comment ZNF674 100.00 0 No comment ZNF697 95.04 0 No comment ZNF711 100.00 0 No comment ZNF774 100.00 0 No comment ZNF8 100.00 0 No comment ZNF81 100.00 0 No comment ZNF827 100.00 0 No comment -
Neuropathy (genepanel) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AARS1 99.94 1 ABCA1 99.92 1 ABHD12 99.11 1 ADPRS 100.00 1 AGTPBP1 99.40 1 AIFM1 99.43 1 ARHGEF10 100.00 1 ARSA 100.00 1 ATL1 99.95 1 ATL3 99.86 1 ATM 99.83 1 ATP1A1 99.94 1 ATP7A 99.35 1 B4GALNT1 99.95 1 BAG3 100.00 1 BICD2 100.00 1 BSCL2 100.00 1 CADM3 99.94 1 CD59 99.97 1 CFAP276 99.73 1 CHCHD10 97.06 1 CLTCL1 99.98 1 CNTNAP1 99.80 1 COA7 100.00 1 COX20 99.40 1 COX6A1 99.99 1 CTDP1 98.02 1 CTNNB1 99.98 1 CYP27A1 99.96 1 DARS2 99.86 1 DCAF8 99.98 1 DCTN1 99.95 1 DGAT2 99.99 1 DGUOK 99.76 1 DHTKD1 99.88 1 DNAJB2 100.00 1 DNAJC3 99.58 1 DNM2 99.96 1 DNMT1 99.88 1 DRP2 99.45 1 DST 99.92 1 DYNC1H1 99.97 1 EGR2 100.00 1 ELP1 99.96 1 ETFDH 99.76 1 FBLN5 92.79 1 FBXO38 99.93 1 FGD4 99.89 1 FIG4 99.94 1 FLVCR1 99.93 1 FXN 97.92 1 GALC 99.88 1 GAN 99.84 1 GARS1 99.86 1 GBA2 99.97 1 GBE1 99.84 1 GBF1 99.95 1 GDAP1 99.93 1 GJB1 99.99 1 GJB3 100.00 1 GJC2 96.12 1 GLA 99.64 1 GNB4 99.95 1 GSN 97.83 1 HADHA 99.96 1 HADHB 99.97 1 HARS1 99.99 1 HINT1 99.96 1 HK1 96.86 1 HNRNPA1 100.00 1 HOXD10 100.00 1 HSPB1 99.83 1 HSPB3 100.00 1 HSPB8 99.90 1 IARS2 99.96 1 IFRD1 99.96 1 IGHMBP2 99.99 1 INF2 97.15 1 ITPR3 99.88 1 JAG1 99.92 1 KIF1A 99.96 1 KIF5A 99.93 1 LITAF 100.00 1 LMNA 99.98 1 LRSAM1 99.97 1 LYST 99.92 1 MCM3AP 99.96 1 MFN2 99.96 1 MMACHC 99.99 1 MME 97.69 1 MORC2 99.98 1 MPV17 100.00 1 MPZ 99.97 1 MTMR2 99.98 1 MTRFR 99.85 1 MYH14 99.79 1 NAGA 99.99 1 NAGLU 98.00 1 NARS1 99.74 1 NDRG1 100.00 1 NEFH 98.77 1 NEFL 99.99 1 NGF 99.99 1 NTRK1 99.67 1 PCYT2 97.60 1 PDK3 98.86 1 PEX7 99.87 1 PHYH 99.65 1 PIEZO2 99.88 1 PLD3 99.99 1 PLEKHG5 99.66 1 PLP1 99.93 1 PMM2 99.94 1 PMP2 99.95 1 PMP22 100.00 1 PNKP 100.00 1 PNPLA6 99.88 1 POLG 99.98 1 POLR3B 99.88 1 PPOX 99.94 1 PRDM12 99.60 1 PRKCG 99.90 1 PRNP 100.00 1 PRPS1 99.79 1 PRX 99.94 1 PTEN 99.15 1 PTPN11 99.91 1 PTRH2 99.97 1 RAB7A 99.94 1 REEP1 99.99 1 RETREG1 99.92 1 RFC1 99.44 1 SACS 99.98 1 SBF1 99.97 1 SBF2 99.92 1 SCARB2 99.94 1 SCN10A 99.97 1 SCN11A 99.77 1 SCN9A 99.96 1 SCO2 100.00 1 SCYL1 99.64 1 SEPTIN9 99.94 1 SETX 99.96 1 SH3TC2 99.98 1 SIGMAR1 99.99 1 SLC12A6 99.88 1 SLC25A19 99.99 1 SLC25A46 99.93 1 SLC52A2 100.00 1 SLC52A3 100.00 1 SLC5A7 99.97 1 SORD 92.86 1 SOX10 100.00 1 SPAST 99.83 1 SPG11 99.94 1 SPG7 99.99 1 SPTAN1 99.97 1 SPTBN4 99.19 1 SPTLC1 99.98 1 SPTLC2 99.94 1 SPTLC3 99.94 1 SURF1 97.64 1 SYT2 99.89 1 TBCE 99.69 1 TBCK 99.76 1 TECPR2 99.90 1 TFG 99.34 1 TRIM2 99.99 1 TRPV4 99.96 1 TTPA 99.97 1 TTR 100.00 1 TUBB3 100.00 1 TWNK 100.00 1 UCHL1 99.99 1 VAPB 99.94 1 VCP 99.92 1 VPS13A 99.60 1 VRK1 99.94 1 VWA1 91.35 1 WARS1 99.79 1 WNK1 99.94 1 XRCC1 99.94 1 YARS1 99.96 1 ZFHX2 99.98 1 ZFYVE26 99.96 1 -
Neuropathy panel - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AARS1 99.99 1 ABCA1 99.92 1 ABHD12 99.98 1 AGTPBP1 99.68 1 AGXT 100.00 1 AHNAK2 97.58 1 AIFM1 99.92 1 AMACR 100.00 1 AP1S1 99.49 1 APOA1 100.00 1 APTX 99.92 1 AR 99.76 1 ARHGEF10 100.00 1 ARSA 99.99 1 ASAH1 99.90 1 ASCC1 90.99 1 ATAD3A 99.62 1 ATL1 99.95 1 ATL3 99.75 1 ATM 99.83 1 ATP1A1 98.41 1 ATP7A 99.87 1 B4GALNT1 99.97 1 BAG3 100.00 1 BCKDHB 99.73 1 BICD2 99.99 1 BSCL2 99.99 1 CFAP276 98.35 1 CCT5 99.99 1 CD59 100.00 1 CHCHD10 100.00 1 CNTNAP1 99.98 1 COA7 99.91 1 COX6A1 99.98 1 CPOX 99.99 1 CTDP1 99.97 1 CYP27A1 100.00 1 DARS2 98.31 1 DCAF8 99.83 1 DCTN1 99.98 1 DEGS1 99.99 1 DGAT2 99.99 1 DGUOK 99.93 1 DHTKD1 99.95 1 DNAJB2 99.97 1 DNAJC3 99.92 1 DNM2 99.99 1 DNMT1 99.13 1 DRP2 99.94 1 DST 99.52 1 DYNC1H1 99.99 1 EGR2 100.00 1 ELP1 99.96 1 ERCC6 99.60 1 ERCC8 99.79 1 ETFDH 99.82 1 EXOSC3 100.00 1 EXOSC8 99.91 1 EXOSC9 94.91 1 FANCA 99.98 1 HYCC1 99.81 1 FBLN5 100.00 1 FBXO38 99.96 1 FGD4 99.87 1 FIG4 99.83 1 FLVCR1 99.91 1 FXN 99.96 1 GALC 99.92 1 GAN 99.98 1 GARS1 99.93 1 GBA2 99.99 1 GBF1 99.97 1 GDAP1 99.98 1 GJB1 100.00 1 GJC2 100.00 1 GLA 99.90 1 GNB4 99.96 1 GNE 99.99 1 GSN 99.93 1 HADHA 99.98 1 HADHB 99.82 1 HARS1 99.96 1 HINT1 99.86 1 HK1 99.97 1 HMBS 99.97 1 HSPB1 99.97 1 HSPB3 99.97 1 HSPB8 100.00 1 IARS2 99.77 1 IGHMBP2 99.92 1 INF2 99.99 1 ITPR3 99.98 1 JAG1 100.00 1 KARS1 99.98 1 KCNA2 99.99 1 KIF1A 99.96 1 KIF1B 99.97 1 KIF26B 100.00 1 KIF5A 99.91 1 LITAF 83.22 1 LMNA 99.96 1 LRSAM1 99.99 1 LYST 99.87 1 MARS1 99.97 1 MCM3AP 99.98 1 MFN2 99.98 1 MICAL1 99.99 1 MMACHC 99.98 1 MME 97.17 1 MORC2 100.00 1 MPV17 99.98 1 MPZ 99.99 1 MTMR2 99.94 1 MTRFR 99.87 1 MTTP 99.92 1 MYH7B 99.98 1 NAGA 100.00 1 NAGLU 100.00 1 NDRG1 99.99 1 NEFH 100.00 1 NEFL 100.00 1 NGF 100.00 1 NMNAT2 99.79 1 NTRK1 99.86 1 MED12 99.95 1 OPA3 100.00 1 PDHA1 99.04 1 PDK3 99.49 1 PDYN 100.00 1 PEX10 100.00 1 PEX7 99.72 1 PHYH 100.00 1 PLEKHG5 99.99 1 PLP1 99.98 1 PMM2 99.93 1 PMP2 99.93 1 PMP22 100.00 1 PNKP 100.00 1 PNPLA6 99.99 1 POLG 100.00 1 POLG2 99.51 1 POLR3A 99.97 1 HCRT 99.85 1 PRDM12 100.00 1 PRKCG 99.99 1 PRPS1 99.95 1 PRUNE1 99.85 1 PRX 99.99 1 PTEN 99.89 1 PTPN11 99.98 1 PTRH2 99.99 1 RAB7A 100.00 1 RBM7 99.99 1 REEP1 99.97 1 RETREG1 99.99 1 SACS 99.97 1 SBF1 99.99 1 SBF2 99.77 1 SCARB2 99.99 1 SCN10A 99.99 1 SCN11A 99.94 1 SCN9A 99.83 1 SCO2 100.00 1 SCYL1 100.00 1 SEPTIN9 99.99 1 SETX 99.97 1 SGPL1 99.95 1 SH3TC2 100.00 1 SIGMAR1 99.99 1 SLC12A6 99.98 1 SLC25A19 99.99 1 SLC25A21 99.98 1 SLC25A46 99.88 1 SLC52A2 100.00 1 SLC52A3 99.94 1 SLC5A7 99.57 1 SMN1 7.60 1 SMN2 6.68 1 SORD 85.52 1 SOX10 100.00 1 SPAST 99.77 1 SPG11 99.89 1 SPG7 99.99 1 SPTAN1 99.96 1 SPTBN4 99.91 1 SPTLC1 99.74 1 SPTLC2 99.95 1 SUCLA2 99.96 1 SURF1 100.00 1 TFG 98.68 1 TRIM2 99.98 1 TRIP4 99.97 1 TRPA1 99.67 1 TRPV4 100.00 1 TTPA 99.88 1 TTR 100.00 1 TUBB3 100.00 1 TWNK 100.00 1 TYMP 99.87 1 UBA1 99.93 1 VAPB 100.00 1 VCP 99.99 1 VPS13A 99.68 1 VRK1 99.98 1 WARS1 99.97 1 WNK1 99.98 1 XK 99.98 1 XPA 99.68 1 XRCC1 99.96 1 YARS1 99.29 1 ZFYVE26 100.00 1 -
Panel Nephro-ULG-V1
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACE 97.24 0 , ACTG2 100.00 0 , ACTN4 100.00 0 , ADAMTS13 96.63 0 , ADAMTS9 100.00 0 , ADCY10 100.00 0 , AGT 100.00 0 , AGTR1 100.00 0 , AGXT 100.00 0 , ALDOB 100.00 0 , ALG5 100.00 0 , ALG8 100.00 0 , ALG9 99.28 0 , ALMS1 100.00 0 , ALPL 100.00 0 , AMN 86.23 0 , ANKS6 91.46 0 , ANLN 100.00 0 , ANOS1 94.70 0 , AP2S1 100.00 0 , APOA1 100.00 0 , APOL1 100.00 0 , APRT 100.00 0 , AQP2 100.00 0 , ARHGAP24 99.80 0 , ARHGDIA 100.00 0 , ARL6 100.00 0 , ATP6V0A4 100.00 0 , ATP6V1B1 100.00 0 , ATP7B 100.00 0 , ATXN10 99.92 0 , AVIL 100.00 0 , AVPR2 100.00 0 , B2M 100.00 0 , B9D1 100.00 0 , B9D2 100.00 0 , BBIP1 100.00 0 , BBS1 100.00 0 , BBS10 100.00 0 , BBS12 100.00 0 , BBS2 100.00 0 , BBS4 100.00 0 , BBS5 100.00 0 , BBS7 100.00 0 , BBS9 100.00 0 , BICC1 99.81 0 , BMP4 100.00 0 , BMP7 100.00 0 , BNC2 100.00 0 , BSND 100.00 0 , C3 100.00 0 , CA2 100.00 0 , CASR 100.00 0 , CC2D2A 100.00 0 , CD151 100.00 0 , CD2AP 100.00 0 , CD46 100.00 0 , CDC5L 100.00 0 , CDC73 100.00 0 , CENPF 100.00 0 , CEP164 100.00 0 , CEP290 99.95 0 , CEP41 100.00 0 , CEP55 100.00 0 , CEP83 100.00 0 , CFB 100.00 0 , CFH 100.00 0 , CFHR1 95.06 0 , CFHR3 99.44 0 , CFHR5 100.00 0 , CFI 100.00 0 , CHD1L 99.95 0 , CHD7 100.00 0 , CHRM3 100.00 0 , CHRNA3 99.35 0 , CLCN5 100.00 0 , CLCNKA 100.00 0 , CLCNKB 100.00 0 , CLDN10 100.00 0 , CLDN16 100.00 0 , CLDN19 100.00 0 , CNNM2 99.42 0 , COL4A1 99.52 0 , COL4A3 99.47 0 , COL4A4 100.00 0 , COL4A5 99.90 0 , COL4A6 99.82 0 , COQ2 95.50 0 , COQ6 100.00 0 , COQ8A 100.00 0 , COQ8B 100.00 0 , CRB2 94.59 0 , CSPP1 100.00 0 , CTNS 100.00 0 , CTU2 98.44 0 , CUBN 100.00 0 , CUL3 100.00 0 , CYP24A1 100.00 0 , DAAM2 100.00 0 , DCDC2 100.00 0 , DGKE 100.00 0 , DHCR7 99.99 0 , DIS3L2 100.00 0 , DMP1 100.00 0 , DNAJB11 100.00 0 , DSTYK 100.00 0 , DYNC2H1 99.97 0 , DZIP1L 100.00 0 , EGF 100.00 0 , EGFR 99.63 0 , EHHADH 100.00 0 , EMP2 100.00 0 , EYA1 100.00 0 , FAH 100.00 0 , FAM20A 99.78 0 , CCNQ 82.12 0 , FAN1 100.00 0 , FAT1 100.00 0 , FGA 100.00 0 , FGF20 99.13 0 , FGF23 100.00 0 , FH 100.00 0 , FLCN 100.00 0 , FN1 99.98 0 , FRAS1 100.00 0 , FREM1 100.00 0 , FREM2 100.00 0 , FXYD2 100.00 0 , G6PC1 100.00 0 , GALT 100.00 0 , GANAB 100.00 0 , GATA3 100.00 0 , GATM 100.00 0 , GLA 100.00 0 , GLI3 100.00 0 , GLIS2 100.00 0 , GNA11 99.87 0 , GPC3 99.84 0 , GREB1L 100.00 0 , GRHPR 100.00 0 , GRIP1 100.00 0 , GSN 100.00 0 , HAAO 100.00 0 , HNF1B 100.00 0 , HNF4A 100.00 0 , HOGA1 100.00 0 , HOXA13 71.26 0 , HPRT1 97.10 0 , HPSE2 100.00 0 , HSD11B2 78.40 0 , IFT122 100.00 0 , IFT140 99.96 0 , IFT172 100.00 0 , IFT27 100.00 0 , IFT80 100.00 0 , INF2 99.98 0 , INVS 100.00 0 , IQCB1 100.00 0 , ITGA3 99.70 0 , ITGA8 99.76 0 , JAG1 99.83 0 , KANK1 100.00 0 , KANK2 100.00 0 , KANK4 100.00 0 , KCNA1 100.00 0 , KCNJ1 100.00 0 , KCNJ10 100.00 0 , KCNJ16 100.00 0 , KDM6A 99.90 0 , KL 95.50 0 , KLHL3 100.00 0 , KMT2D 100.00 0 , KYNU 99.98 0 , LAMA5 98.59 0 , LAMB2 100.00 0 , LIFR 100.00 0 , LMX1B 100.00 0 , LRIG2 99.95 0 , LRP2 100.00 0 , LRP4 99.14 0 , LRP5 97.83 0 , LRP6 100.00 0 , LYZ 100.00 0 , LZTFL1 100.00 0 , MAGED2 99.94 0 , MAGI2 93.63 0 , MAPKBP1 100.00 0 , MET 100.00 0 , MKKS 100.00 0 , MKS1 100.00 0 , MMACHC 100.00 0 , MUC1 100.00 0 , MYH9 100.00 0 , MYO1E 100.00 0 , MYOCD 100.00 0 , NADSYN1 100.00 0 , NEK8 100.00 0 , NIPBL 100.00 0 , NOTCH2 100.00 0 , NPHP1 100.00 0 , NPHP3 99.73 0 , NPHP4 100.00 0 , NPHS1 100.00 0 , NPHS2 100.00 0 , NR3C2 100.00 0 , NRIP1 100.00 0 , NUP107 100.00 0 , NUP133 100.00 0 , NUP160 100.00 0 , NUP205 100.00 0 , NUP85 100.00 0 , NUP93 100.00 0 , NXF5 0.00 0 , OCRL 99.96 0 , OFD1 100.00 0 , PAX2 100.00 0 , PBX1 100.00 0 , PCBD1 92.70 0 , PDE6D 100.00 0 , PDSS2 100.00 0 , PHEX 98.98 0 , PKD1 96.86 0 , PKD2 92.32 0 , PKHD1 100.00 0 , PLCE1 100.00 0 , PLG 100.00 0 , PLVAP 100.00 0 , PMM2 100.00 0 , PODXL 90.59 0 , PRKCSH 100.00 0 , PTPRO 100.00 0 , REN 100.00 0 , RET 99.35 0 , ROBO1 100.00 0 , ROBO2 100.00 0 , ROR2 98.01 0 , RPGRIP1L 99.18 0 , RRAGD 99.90 0 , RRM2B 100.00 0 , SALL1 100.00 0 , SARS2 100.00 0 , SCARB2 100.00 0 , SCNN1A 100.00 0 , SCNN1B 100.00 0 , SCNN1G 100.00 0 , SDCCAG8 100.00 0 , SDHB 100.00 0 , SDHD 100.00 0 , SEC61A1 100.00 0 , SEC63 99.95 0 , SGPL1 99.92 0 , SIX1 100.00 0 , SIX2 100.00 0 , SIX5 93.51 0 , SLC12A1 100.00 0 , SLC12A3 100.00 0 , SLC1A1 100.00 0 , SLC22A12 100.00 0 , SLC26A1 100.00 0 , SLC26A3 100.00 0 , SLC2A2 100.00 0 , SLC2A9 100.00 0 , SLC34A1 100.00 0 , SLC34A3 100.00 0 , SLC3A1 100.00 0 , SLC41A1 100.00 0 , SLC4A1 100.00 0 , SLC4A4 100.00 0 , SLC5A2 100.00 0 , SLC6A19 100.00 0 , SLC7A7 100.00 0 , SLC7A9 100.00 0 , NHERF1 100.00 0 , SLIT2 99.95 0 , SMARCAL1 100.00 0 , SOX17 99.26 0 , STRA6 100.00 0 , STX16 100.00 0 , TBC1D1 100.00 0 , TBC1D8B 100.00 0 , TBX18 99.84 0 , TCTN2 100.00 0 , TCTN3 100.00 0 , TFAP2A 100.00 0 , THBD 100.00 0 , TMEM138 100.00 0 , TMEM216 100.00 0 , TMEM231 100.00 0 , TMEM237 100.00 0 , TMEM260 97.92 0 , TMEM67 100.00 0 , TRAP1 95.57 0 , TRIM32 100.00 0 , TRIM8 100.00 0 , TRPC6 100.00 0 , TRPM6 100.00 0 , TSC1 100.00 0 , TSC2 100.00 0 , TTC21B 50.00 0 , TTC8 100.00 0 , TTR 100.00 0 , TULP3 100.00 0 , UMOD 100.00 0 , UPK3A 100.00 0 , VHL 100.00 0 , VIPAS39 100.00 0 , VPS33B 100.00 0 , WBP11 100.00 0 , WDPCP 100.00 0 , WDR19 100.00 0 , WDR35 100.00 0 , WDR73 100.00 0 , WNK1 100.00 0 , WNK4 100.00 0 , WNT4 93.15 0 , WNT5A 88.79 0 , WT1 95.16 0 , XDH 100.00 0 , XPNPEP3 100.00 0 , XPO5 99.80 0 , ZIC3 100.00 0 , ZMYM2 99.97 0 , ZNF423 100.00 0 , -
Retinal dystrophy - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCA4 99.30 1 ABCC6 98.57 1 ABHD12 99.98 1 ACBD5 99.97 1 ACO2 99.99 1 ADAM9 99.89 1 ADAMTS18 99.99 1 ADGRA3 99.90 1 ADGRV1 99.80 1 ADIPOR1 99.83 1 AFG3L2 99.97 1 AGBL5 99.98 1 AHI1 99.86 1 AHR 99.79 1 AIPL1 100.00 1 ALMS1 99.90 1 ARHGEF18 99.97 1 ARL2BP 99.89 1 ARL3 99.98 1 ARL6 99.90 1 ARMS2 100.00 1 ARSG 100.00 1 ASRGL1 99.84 1 ATF6 98.19 1 ATXN7 99.98 1 BBIP1 99.99 1 BBS1 100.00 1 BBS10 99.98 1 BBS12 100.00 1 BBS2 99.90 1 BBS4 99.88 1 BBS5 99.00 1 BBS7 99.42 1 BBS9 99.75 1 BEST1 99.86 1 MFRP 100.00 1 C2 99.99 1 C3 100.00 1 CA4 100.00 1 CABP4 100.00 1 CACNA1F 99.94 1 CACNA2D4 99.99 1 CAPN5 99.88 1 CC2D2A 99.95 1 CCT2 98.46 1 CDH23 99.95 1 CDH3 99.98 1 CDHR1 99.72 1 CEP164 99.99 1 CEP19 99.99 1 CEP250 99.93 1 CEP290 98.10 1 CEP78 99.95 1 CERKL 99.91 1 CFAP410 100.00 1 CFAP418 100.00 1 CFB 99.97 1 CFH 99.12 1 CHM 96.46 1 CIB2 100.00 1 CLCC1 93.17 1 CLN3 99.92 1 CLRN1 99.99 1 CLUAP1 99.95 1 CNGA1 99.60 1 CNGA3 99.95 1 CNGB1 97.53 1 CNGB3 99.96 1 CNNM4 99.93 1 COL11A1 90.72 1 COL2A1 99.87 1 COL9A1 99.91 1 CRB1 99.73 1 CRX 99.96 1 CSPP1 98.31 1 CTNNA1 99.98 1 CWC27 99.67 1 CYP4V2 99.98 1 DHDDS 98.65 1 DHX38 99.97 1 DMD 99.76 1 DRAM2 96.06 1 DTHD1 99.92 1 DYNC2H1 99.66 1 EFEMP1 99.68 1 ELOVL1 100.00 1 ELOVL4 99.91 1 EMC1 99.85 1 ERCC6 99.60 1 ESPN 100.00 1 EXOSC2 100.00 1 EYS 99.86 1 FAM161A 99.77 1 FBLN5 100.00 1 FBN2 99.90 1 FLVCR1 99.91 1 FSCN2 100.00 1 FZD4 100.00 1 GDF6 100.00 1 GNAT1 100.00 1 GNAT2 99.87 1 GNB3 100.00 1 GNPTG 100.00 1 GPR179 99.99 1 GRID2 99.97 1 GRK1 99.99 1 GRM6 100.00 1 GUCA1A 100.00 1 GUCA1B 99.99 1 GUCY2D 100.00 1 HARS1 99.96 1 HGSNAT 99.93 1 HK1 99.97 1 HMCN1 99.44 1 HMX1 100.00 1 HTRA1 100.00 1 IDH3A 99.98 1 IDH3B 100.00 1 IFT140 100.00 1 IFT172 99.98 1 IFT27 100.00 1 IFT43 99.97 1 IFT81 94.64 1 IFT88 98.26 1 IMPDH1 92.77 1 IMPG1 99.93 1 IMPG2 99.97 1 INPP5E 99.85 1 INVS 99.94 1 IQCB1 99.72 1 ITM2B 99.85 1 JAG1 100.00 1 KCNJ13 99.99 1 KCNV2 99.97 1 KIAA1549 99.98 1 KIF11 99.84 1 KIF3B 99.99 1 KIZ 99.98 1 KLHL7 99.95 1 LAMA1 99.98 1 LAMB2 99.99 1 LCA5 99.89 1 LRAT 100.00 1 LRIT3 100.00 1 LRP5 99.95 1 LZTFL1 100.00 1 MAK 99.47 1 MAPKAPK3 99.97 1 MERTK 98.90 1 MFN2 99.98 1 MFSD8 99.70 1 MIR204 100.00 1 MKKS 100.00 1 MKS1 99.92 1 MTRFR 99.87 1 MTTP 99.92 1 MVK 99.97 1 MYO7A 99.96 1 NBAS 99.86 1 NDP 99.98 1 NEK2 95.09 1 NEUROD1 100.00 1 NMNAT1 99.93 1 NPHP1 99.05 1 NPHP3 99.89 1 NPHP4 99.98 1 NR2E3 100.00 1 NR2F1 99.99 1 NRL 100.00 1 NYX 100.00 1 OAT 90.17 1 OFD1 99.68 1 MED12 99.95 1 OPA3 100.00 1 OPN1LW 71.75 1 OPN1MW 30.23 1 OPN1SW 99.97 1 OTX2 100.00 1 PANK2 99.99 1 PAX2 99.99 1 PCARE 100.00 1 PCDH15 99.71 1 PCYT1A 100.00 1 PDE6A 99.98 1 PDE6B 100.00 1 PDE6C 99.91 1 PDE6G 100.00 1 PDE6H 99.97 1 PDZD7 98.09 1 PEX1 98.80 1 PEX2 100.00 1 PEX6 99.99 1 PEX7 99.72 1 PGK1 99.93 1 PHYH 100.00 1 PITPNM3 99.98 1 PLA2G5 99.91 1 PLK4 99.89 1 PNPLA6 99.99 1 POC1B 100.00 1 POC5 99.85 1 POMGNT1 99.69 1 PRCD 100.00 1 PRDM13 99.99 1 PROM1 99.97 1 PRPF3 99.73 1 PRPF31 99.99 1 PRPF4 99.96 1 PRPF6 99.98 1 PRPF8 99.98 1 PRPH2 99.98 1 PRPS1 99.95 1 RAB28 99.97 1 RAX2 100.00 1 RB1 99.84 1 RBP3 99.99 1 RBP4 99.99 1 RCBTB1 99.99 1 RD3 100.00 1 RDH11 99.99 1 RDH12 99.98 1 RDH5 100.00 1 REEP6 100.00 1 RGR 99.79 1 RGS9BP 100.00 1 RHO 100.00 1 RIMS1 99.85 1 RIMS2 99.97 1 RLBP1 99.99 1 ROM1 100.00 1 MAPRE2 99.98 1 RP1L1 100.00 1 RP2 99.58 1 RP9 99.83 1 RPE65 98.99 1 RPGR 94.45 1 RPGRIP1 99.95 1 RPGRIP1L 96.35 1 RS1 99.92 1 RTN4IP1 99.98 1 SAG 99.98 1 SAMD11 100.00 1 SAMD7 99.99 1 SCAPER 99.75 1 SCLT1 95.17 1 SDCCAG8 100.00 1 SEMA4A 99.81 1 SF3B2 99.98 1 SLC24A1 99.92 1 SLC25A46 99.88 1 SLC6A6 99.98 1 SLC7A14 99.99 1 SNRNP200 99.60 1 SPATA7 99.80 1 GPKOW 100.00 1 TEAD1 99.97 1 TIMM8A 100.00 1 TIMP3 100.00 1 TLR3 99.99 1 TLR4 99.99 1 TMEM126A 99.88 1 TMEM216 99.98 1 TMEM237 99.30 1 TOPORS 99.99 1 TREX1 100.00 1 TRIM32 100.00 1 TRNT1 99.97 1 TRPM1 99.96 1 TSPAN12 99.89 1 TTC8 99.67 1 TTLL5 99.95 1 TTPA 99.88 1 TUB 100.00 1 TUBGCP4 99.80 1 TUBGCP6 100.00 1 TULP1 99.99 1 UNC119 100.00 1 USH1C 99.99 1 USH1G 100.00 1 USH2A 99.88 1 VCAN 99.99 1 WDPCP 99.87 1 WDR19 99.80 1 WFS1 99.99 1 WHRN 99.96 1 ZNF408 99.99 1 ZNF423 98.94 1 ZNF513 99.97 1 -
Skeletal dysplasia (394 genes) - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCC9 100.00 0 No comment ABL1 100.00 0 No comment ACAN 98.89 0 No comment ACP4 100.00 0 No comment ACP5 100.00 0 No comment ACVR1 100.00 0 No comment ADAMTS10 99.88 0 No comment ADAMTS17 89.95 0 No comment ADAMTSL2 100.00 0 No comment AFF4 100.00 0 No comment AGA 100.00 0 No comment AGPS 100.00 0 No comment AHDC1 100.00 0 No comment AKT1 100.00 0 No comment ALPL 100.00 0 No comment ALX1 100.00 0 No comment ALX3 91.36 0 No comment ALX4 99.70 0 No comment AMER1 100.00 0 No comment ANKH 100.00 0 No comment ANO5 100.00 0 No comment ANTXR2 100.00 0 No comment APC 100.00 0 No comment ARCN1 100.00 0 No comment ARHGAP31 100.00 0 No comment ARID1A 94.64 0 No comment ARID1B 92.99 0 No comment SLURP1 85.73 0 No comment ARSL 100.00 0 No comment ASCC1 91.27 0 No comment ASXL2 100.00 0 No comment ATP6V0A2 100.00 0 No comment B3GALT6 56.12 0 No comment B3GAT3 95.56 0 No comment B4GALT7 93.23 0 No comment BGN 100.00 0 No comment BHLHA9 38.48 0 No comment BMP1 99.86 0 No comment BMP2 100.00 0 No comment BMPER 100.00 0 No comment BMPR1B 100.00 0 No comment BRIP1 100.00 0 No comment C1R 100.00 0 No comment C1S 100.00 0 No comment C2CD3 100.00 0 No comment CA2 100.00 0 No comment CANT1 100.00 0 No comment CASR 100.00 0 No comment CC2D2A 98.16 0 No comment CCDC8 100.00 0 No comment CCN6 100.00 0 No comment CCNQ 84.41 0 No comment CD96 100.00 0 No comment CDC45 100.00 0 No comment CDC6 100.00 0 No comment CDH3 100.00 0 No comment CDKN1C 62.25 0 No comment CDT1 87.95 0 No comment CEP120 100.00 0 No comment CEP290 99.99 0 No comment CHD7 100.00 0 No comment CHST14 98.57 0 No comment CHST3 100.00 0 No comment CHSY1 91.67 0 No comment CKAP2L 100.00 0 No comment CLCN5 100.00 0 No comment CLCN7 94.99 0 No comment COG1 99.24 0 No comment COL10A1 100.00 0 No comment COL11A1 100.00 0 No comment COL11A2 99.14 0 No comment COL1A1 100.00 0 No comment COL1A2 99.93 0 No comment COL2A1 100.00 0 No comment COL9A1 100.00 0 No comment COL9A2 100.00 0 No comment COL9A3 96.41 0 No comment COMP 99.90 0 No comment CPLANE1 100.00 0 No comment CREB3L1 100.00 0 No comment CREBBP 100.00 0 No comment CRTAP 89.72 0 No comment CSPP1 100.00 0 No comment CTSA 100.00 0 No comment CTSK 100.00 0 No comment CUL7 99.99 0 No comment CYP26B1 100.00 0 No comment DDR2 100.00 0 No comment RIGI 100.00 0 No comment DDX59 100.00 0 No comment DHCR24 99.96 0 No comment DHODH 100.00 0 No comment DLL3 78.42 0 No comment DLX3 100.00 0 No comment DLX5 100.00 0 No comment DLX6 99.69 0 No comment DMP1 100.00 0 No comment DOCK6 99.12 0 No comment DVL1 100.00 0 No comment DVL3 100.00 0 No comment DYM 100.00 0 No comment DYNC2H1 100.00 0 No comment DYNC2LI1 100.00 0 No comment GLB1 100.00 0 No comment EDNRA 100.00 0 No comment EFNA4 100.00 0 No comment EFNB1 100.00 0 No comment EFTUD2 100.00 0 No comment EIF2AK3 95.52 0 No comment EIF4A3 100.00 0 No comment ELMO2 100.00 0 No comment ENPP1 96.48 0 No comment EOGT 100.00 0 No comment EP300 100.00 0 No comment ERCC4 100.00 0 No comment ERF 100.00 0 No comment ESCO2 100.00 0 No comment EVC 94.45 0 No comment EVC2 99.55 0 No comment EXT1 100.00 0 No comment EXT2 100.00 0 No comment EZH2 100.00 0 No comment FAM111A 100.00 0 No comment FAM20C 92.71 0 No comment FANCA 99.70 0 No comment FANCB 100.00 0 No comment FANCC 100.00 0 No comment FANCD2 100.00 0 No comment FANCE 91.17 0 No comment FANCF 100.00 0 No comment FANCG 100.00 0 No comment FANCI 100.00 0 No comment FANCL 100.00 0 No comment FBLN1 95.59 0 No comment FBN1 100.00 0 No comment FBN2 100.00 0 No comment FBXW4 92.44 0 No comment FERMT3 100.00 0 No comment FGF10 100.00 0 No comment FGF16 100.00 0 No comment FGF23 100.00 0 No comment FGF3 80.02 0 No comment FGF4 70.06 0 No comment FGF8 94.82 0 No comment FGF9 100.00 0 No comment FGFR1 100.00 0 No comment FGFR2 100.00 0 No comment FGFR3 99.26 0 No comment FIG4 100.00 0 No comment FKBP10 100.00 0 No comment FLNA 100.00 0 No comment FLNB 100.00 0 No comment FMN1 100.00 0 No comment FN1 100.00 0 No comment FREM1 100.00 0 No comment FUCA1 100.00 0 No comment FZD2 98.72 0 No comment GALNS 96.18 0 No comment GALNT3 100.00 0 No comment GDF3 100.00 0 No comment GDF5 100.00 0 No comment GDF6 93.56 0 No comment GJA1 100.00 0 No comment GLI3 100.00 0 No comment GNAS 98.96 0 No comment GNPAT 100.00 0 No comment GNPTAB 100.00 0 No comment GNPTG 94.69 0 No comment GNS 100.00 0 No comment GORAB 100.00 0 No comment GPC3 100.00 0 No comment GPC6 100.00 0 No comment GPR68 100.00 0 No comment GPX4 87.15 0 No comment GREM1 100.00 0 No comment GUSB 100.00 0 No comment HDAC4 100.00 0 No comment HDAC8 100.00 0 No comment HES7 99.67 0 No comment HOXA11 99.40 0 No comment HOXA13 73.35 0 No comment HOXD13 80.52 0 No comment HPGD 99.99 0 No comment HSPG2 99.43 0 No comment HUWE1 100.00 0 No comment CILK1 100.00 0 No comment IDH1 100.00 0 No comment IDH2 92.01 0 No comment IDS 100.00 0 No comment IFITM5 100.00 0 No comment IFT122 100.00 0 No comment IFT140 100.00 0 No comment IFT172 100.00 0 No comment IFT43 100.00 0 No comment IFT80 100.00 0 No comment IGF1R 100.00 0 No comment IHH 99.88 0 No comment IKBKG 99.74 0 No comment IL11RA 100.00 0 No comment IL1RN 100.00 0 No comment BPNT2 98.65 0 No comment INPPL1 96.74 0 No comment JAG1 99.66 0 No comment KAT6B 100.00 0 No comment KIF22 100.00 0 No comment KIF7 96.94 0 No comment KRAS 100.00 0 No comment LBR 100.00 0 No comment LEMD3 100.00 0 No comment LFNG 82.55 0 No comment LIFR 100.00 0 No comment LMBR1 100.00 0 No comment LMNA 99.93 0 No comment LMX1B 99.99 0 No comment LONP1 99.83 0 No comment LPIN2 100.00 0 No comment LRIT3 100.00 0 No comment CORIN 98.90 0 No comment LRP5 97.87 0 No comment LTBP2 100.00 0 No comment LTBP3 96.02 0 No comment MAB21L2 100.00 0 No comment MAFB 99.89 0 No comment MAN2B1 100.00 0 No comment MAN2C1 100.00 0 No comment MAP3K7 100.00 0 No comment MATN3 86.25 0 No comment MEGF8 99.99 0 No comment MEOX1 100.00 0 No comment MESP2 100.00 0 No comment MGP 100.00 0 No comment MITF 100.00 0 No comment MKS1 100.00 0 No comment MMP13 100.00 0 No comment MMP2 100.00 0 No comment MMP9 100.00 0 No comment MNX1 71.50 0 No comment MSX2 100.00 0 No comment MYCN 86.70 0 No comment MYT1 100.00 0 No comment NAGLU 87.38 0 No comment NEK1 100.00 0 No comment NEU1 100.00 0 No comment NF1 99.95 0 No comment NFIX 97.15 0 No comment NIPBL 99.98 0 No comment NKX3-2 96.89 0 No comment NLRP3 100.00 0 No comment NOG 100.00 0 No comment NOTCH2 99.76 0 No comment NPRL2 100.00 0 No comment NSD1 100.00 0 No comment NSDHL 100.00 0 No comment NTRK2 100.00 0 No comment OBSL1 98.31 0 No comment OFD1 99.88 0 No comment SLC25A15 100.00 0 No comment ORC4 100.00 0 No comment ORC6 100.00 0 No comment OSTM1 99.55 0 No comment P3H1 99.77 0 No comment P4HB 99.90 0 No comment PALB2 100.00 0 No comment PAM16 96.78 0 No comment PANK2 98.60 0 No comment PAPSS2 100.00 0 No comment PCNT 100.00 0 No comment PCYT1A 100.00 0 No comment PDE3A 100.00 0 No comment PDE4D 98.77 0 No comment PEX7 91.13 0 No comment PGM3 99.99 0 No comment PHEX 100.00 0 No comment PIGV 100.00 0 No comment PIK3CA 100.00 0 No comment PITX1 98.27 0 No comment PLEKHM1 100.00 0 No comment PLOD2 100.00 0 No comment PLS3 100.00 0 No comment POLR1A 100.00 0 No comment POLR1C 100.00 0 No comment POLR1D 100.00 0 No comment BVES 100.00 0 No comment PORCN 100.00 0 No comment PPIB 100.00 0 No comment PRKAR1A 100.00 0 No comment PROK2 98.51 0 No comment PTDSS1 100.00 0 No comment PTH1R 99.01 0 No comment PTHLH 100.00 0 No comment PTPN11 98.80 0 No comment PYCR1 100.00 0 No comment RAB23 100.00 0 No comment RAB33B 100.00 0 No comment RAD21 100.00 0 No comment RAD51C 100.00 0 No comment RASGRP2 100.00 0 No comment RBM8A 100.00 0 No comment RBPJ 100.00 0 No comment RECQL4 96.37 0 No comment RMRP 100.00 0 No comment RNU4ATAC 100.00 0 No comment ROR2 98.67 0 No comment RPGRIP1L 96.45 0 No comment RSPO2 100.00 0 No comment RSPRY1 100.00 0 No comment RUNX2 98.51 0 No comment SALL1 100.00 0 No comment SALL4 100.00 0 No comment SBDS 100.00 0 No comment SEC24D 100.00 0 No comment SERPINF1 100.00 0 No comment SERPINH1 100.00 0 No comment SETD2 100.00 0 No comment SF3B4 100.00 0 No comment SH3BP2 91.63 0 No comment SH3PXD2B 99.68 0 No comment SHOX 90.47 0 No comment HHAT 90.28 0 No comment SLC17A5 100.00 0 No comment SLC26A2 99.96 0 No comment SLC29A3 98.83 0 No comment SLC34A3 100.00 0 No comment SLC35D1 99.99 0 No comment SLC39A13 100.00 0 No comment SLCO5A1 100.00 0 No comment SLX4 100.00 0 No comment SMAD3 100.00 0 No comment SMAD4 100.00 0 No comment SMARCA2 98.07 0 No comment SMARCA4 100.00 0 No comment SMARCAL1 100.00 0 No comment SMARCB1 100.00 0 No comment SMC1A 100.00 0 No comment SMC3 100.00 0 No comment SMO 94.17 0 No comment SNRPB 100.00 0 No comment SNX10 100.00 0 No comment SOST 99.39 0 No comment SOX6 100.00 0 No comment SOX9 97.88 0 No comment SP7 100.00 0 No comment STAT3 100.00 0 No comment SULF1 100.00 0 No comment SUMF1 100.00 0 No comment TBCE 100.00 0 No comment TBX15 100.00 0 No comment TBX3 99.88 0 No comment TBX4 94.32 0 No comment TBX5 100.00 0 No comment TBX6 100.00 0 No comment TBXAS1 100.00 0 No comment TCF12 100.00 0 No comment TCIRG1 100.00 0 No comment TCOF1 99.99 0 No comment TCTN3 100.00 0 No comment TGDS 100.00 0 No comment TGFB1 99.97 0 No comment TGFB2 100.00 0 No comment TGFBR1 92.91 0 No comment TGFBR2 100.00 0 No comment THPO 100.00 0 No comment TMCO1 100.00 0 No comment TMEM216 100.00 0 No comment TMEM38B 100.00 0 No comment TMEM67 100.00 0 No comment TNFRSF11B 100.00 0 No comment TP63 100.00 0 No comment TRAPPC2 95.31 0 No comment TREM2 100.00 0 No comment TRIP11 100.00 0 No comment TRIP4 100.00 0 No comment TRPS1 100.00 0 No comment TRPV4 100.00 0 No comment TTC21B 100.00 0 No comment TWIST1 70.93 0 No comment TYROBP 100.00 0 No comment UBE2T 100.00 0 No comment WDR19 100.00 0 No comment DYNC2I2 93.01 0 No comment WDR35 100.00 0 No comment WNT1 98.70 0 No comment WNT10B 98.99 0 No comment WNT3 100.00 0 No comment WNT5A 99.97 0 No comment WNT6 96.35 0 No comment WNT7A 100.00 0 No comment XYLT1 88.83 0 No comment XYLT2 98.70 0 No comment ZEB2 100.00 0 No comment ZIC1 100.00 0 No comment ZMPSTE24 100.00 0 No comment ZSWIM6 88.87 0 No comment -
Stroke - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCA1 99.92 1 ABCC6 98.57 1 ACAD9 100.00 1 ACP5 100.00 1 ACTA2 99.99 1 ACVRL1 99.88 1 ADA2 100.00 1 APP 99.92 1 ASS1 77.52 1 ATP7A 99.87 1 C1R 99.99 1 CACNA1A 98.16 1 CBS 17.79 1 CCM2 99.93 1 CD59 100.00 1 COG6 99.86 1 COL1A1 99.90 1 COL3A1 99.87 1 COL4A1 99.99 1 COL4A2 99.98 1 COL5A1 99.99 1 COL5A2 99.86 1 COQ8A 100.00 1 CYP21A2 99.91 1 CST3 100.00 1 CTSA 99.98 1 DYRK1B 99.99 1 EFEMP2 99.94 1 ENG 100.00 1 ENPP1 99.88 1 ESCO2 99.92 1 F10 99.98 1 F13A1 99.43 1 F2 99.99 1 F5 99.59 1 F7 100.00 1 F8A1 21.76 1 FBN1 99.85 1 FGA 99.98 1 FGB 99.93 1 FGG 99.98 1 FOXC1 100.00 1 GAA 100.00 1 GATA3 99.96 1 GCDH 100.00 1 GGCX 99.88 1 GLA 99.90 1 GUCY1A1 99.99 1 HBB 100.00 1 HSD11B2 99.99 1 HTRA1 100.00 1 ITM2B 99.85 1 IVD 100.00 1 JAG1 100.00 1 JAK2 99.52 1 JAM3 100.00 1 KNG1 99.99 1 KRIT1 99.33 1 LMNA 99.96 1 MFAP5 99.96 1 MFN2 99.98 1 MMACHC 99.98 1 MMUT 99.68 1 MTHFR 99.97 1 MYH11 99.16 1 NF1 99.88 1 NOTCH3 99.99 1 OTC 99.42 1 PCCA 99.90 1 PCCB 99.97 1 PCNT 99.97 1 PDCD10 99.94 1 PDE3A 99.97 1 PKD1 99.98 1 PLG 99.89 1 PLOD1 99.93 1 PLOD3 99.89 1 PROC 99.98 1 PROS1 99.84 1 PTPN11 99.98 1 RASA1 99.05 1 SAMHD1 99.98 1 SERPINE1 99.90 1 SLC19A2 98.86 1 SLC2A10 100.00 1 SMAD3 99.99 1 SMAD4 99.97 1 SMARCAL1 99.97 1 SPARC 99.94 1 STAT1 99.83 1 STIM1 99.99 1 TGFB2 99.87 1 TGFB3 100.00 1 TGFBR1 99.94 1 TGFBR2 99.98 1 THBD 100.00 1 TREX1 100.00 1 TSC1 99.99 1 TSC2 99.98 1 TTR 100.00 1 VHL 100.00 1 YY1AP1 99.98 1 -
Thyroid disgenesis (38 genes) - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AP2S1 100.00 0 No comment CASR 100.00 0 No comment CDCA8 100.00 0 No comment DUOX1 100.00 0 No comment DUOX2 100.00 0 No comment DUOXA2 100.00 0 No comment DYRK1A 100.00 0 No comment ELN 100.00 0 No comment FOXE1 60.48 0 No comment GAS1 62.99 0 No comment GLIS3 100.00 0 No comment GNA11 99.51 0 No comment GNAS 98.96 0 No comment GNAS-AS1 100.00 0 No comment IYD 100.00 0 No comment JAG1 99.66 0 No comment KAT6B 100.00 0 No comment KDM6A 100.00 0 No comment KMT2D 100.00 0 No comment NKX2-1 92.46 0 No comment NKX2-5 100.00 0 No comment NTN1 95.84 0 No comment PAX8 100.00 0 No comment SALL1 100.00 0 No comment SECISBP2 98.68 0 No comment SLC11A2 100.00 0 No comment SLC26A4 99.99 0 No comment SLC26A7 100.00 0 No comment SLC5A5 100.00 0 No comment STX16 100.00 0 No comment TBX1 77.39 0 No comment TG 100.00 0 No comment THRA 100.00 0 No comment THRB 100.00 0 No comment THPO 99.84 0 No comment TSHR 100.00 0 No comment TUBB1 100.00 0 No comment URB1 99.99 0 No comment -
cardiopathy panel - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCC9 99.92 1 ACADVL 100.00 1 ACTA2 99.99 1 ACTC1 98.57 1 ACTN2 99.99 1 AGL 97.67 1 AKAP10 99.85 1 AKAP9 99.27 1 ALG10 100.00 1 ANK2 99.98 1 ANKRD1 99.57 1 ATP5F1E 100.00 1 BAG3 100.00 1 BRAF 99.78 1 CACNA1C 100.00 1 CACNA2D1 97.12 1 CACNB2 99.93 1 CALM1 99.86 1 CALM2 99.62 1 CALR3 99.91 1 CASQ2 94.39 1 CAV3 100.00 1 CBL 99.95 1 CFC1 21.93 1 CITED2 100.00 1 COA5 98.65 1 CRELD1 99.99 1 CRYAB 100.00 1 CSRP3 100.00 1 CTF1 100.00 1 CTNNA1 99.98 1 CTNNA3 99.96 1 DCHS1 100.00 1 DES 100.00 1 DMD 99.76 1 DMPK 99.93 1 DNM1L 99.40 1 DOLK 100.00 1 DPP6 99.99 1 DSC3 99.73 1 DSG2 99.96 1 DSP 100.00 1 DTNA 100.00 1 ELN 99.86 1 EMD 99.93 1 EYA4 99.96 1 FBN1 99.85 1 FBXO32 99.99 1 CFH 99.97 1 FHL2 100.00 1 FKRP 100.00 1 FKTN 99.94 1 FLNC 99.99 1 FOXRED1 100.00 1 FXN 99.96 1 GAA 100.00 1 GATA4 99.99 1 GATA5 100.00 1 GATA6 99.90 1 GATAD1 99.79 1 GDF1 100.00 1 GJA1 100.00 1 GJA5 100.00 1 GLA 99.90 1 GLB1 100.00 1 GPD1L 99.97 1 GUSB 95.07 1 HAND1 99.99 1 HCN4 100.00 1 HFE 100.00 1 HRAS 100.00 1 ILK 100.00 1 JAG1 100.00 1 JPH2 99.99 1 JUP 99.94 1 KCNA5 100.00 1 KCND3 99.98 1 KCNE1 87.07 1 KCNE2 99.99 1 KCNE3 100.00 1 KCNE5 99.97 1 KCNH2 99.99 1 KCNJ2 100.00 1 KCNJ5 99.99 1 KCNJ8 100.00 1 KCNQ1 100.00 1 KRAS 99.13 1 LAMA4 99.93 1 LAMP2 98.95 1 LDB3 99.91 1 LMNA 99.96 1 MAP2K1 99.98 1 MAP2K2 99.99 1 MED13L 99.99 1 MIB1 99.91 1 MRPL3 99.94 1 MYBPC3 99.98 1 MYH6 100.00 1 MYH7 99.99 1 MYL2 99.99 1 MYL3 99.99 1 MYLK2 100.00 1 MYOM1 99.98 1 MYOZ1 99.93 1 MYOZ2 99.99 1 MYPN 99.88 1 NEBL 99.86 1 NEXN 97.73 1 NKX2-5 99.75 1 NKX2-6 100.00 1 NOS1AP 99.91 1 NPPA 100.00 1 NRAS 99.66 1 PDLIM3 99.94 1 PKP2 94.27 1 PLN 99.97 1 PRKAG2 99.96 1 PSEN1 100.00 1 PSEN2 99.97 1 PTPN11 99.98 1 RAF1 99.97 1 RANGRF 100.00 1 RBM20 99.99 1 RYR2 99.94 1 SCN1B 99.98 1 SCN2B 100.00 1 SCN3B 100.00 1 SCN4B 100.00 1 SCN5A 100.00 1 SCO2 100.00 1 SDHA 99.98 1 SGCD 100.00 1 SHOC2 99.96 1 SLC25A3 99.79 1 SLMAP 99.55 1 SMAD3 99.99 1 SNTA1 99.99 1 SOD2 99.98 1 SOS1 99.68 1 SPRED1 99.99 1 SYNE1 99.95 1 SYNE2 99.95 1 TAFAZZIN 99.98 1 TBX1 99.95 1 TBX20 99.99 1 TCAP 100.00 1 TGFB2 99.87 1 TGFB3 100.00 1 TGFBR1 99.94 1 TGFBR2 99.98 1 TLL1 99.94 1 TMEM43 99.96 1 TMEM70 99.99 1 TMPO 99.81 1 TNNI3 100.00 1 TNNT2 99.87 1 TPM1 99.92 1 TRDN 99.80 1 TRIM63 99.96 1 TRPM4 99.99 1 TSFM 100.00 1 TTN 99.15 1 TTR 100.00 1 TXNRD2 99.97 1 VCL 99.76 1 XK 99.98 1 ZFPM2 100.00 1