Belgian Genetic Tests database- Analytes
- DYNLT2B
DYNLT2B
| Name: |
dynein light chain Tctex-type 2B
|
| Symbol: |
DYNLT2B
|
| Synonyms: |
TCTEX1D2
|
| XREF(s): | |
| Created: |
08 Mar 2022 - 08:40
|
| Changed: |
08 Mar 2022 - 08:41
|
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Ciliopathy (120 genes) - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACVR2B 99.99 0 ADAMTS9 99.94 0 AHI1 99.86 0 ALMS1 99.90 0 ANKS6 100.00 0 ARL13B 99.53 0 ARL3 99.98 0 ARL6 99.90 0 ARMC9 99.77 0 B9D1 99.80 0 B9D2 99.88 0 BBIP1 99.99 0 BBS1 100.00 0 BBS10 99.98 0 BBS12 100.00 0 BBS2 99.90 0 BBS4 99.88 0 BBS5 99.00 0 BBS7 99.42 0 BBS9 99.75 0 C2CD3 99.88 0 CBY1 100.00 0 CC2D2A 99.95 0 CCDC103 99.68 0 CCDC172 99.85 0 CCDC28B 99.99 0 CCDC32 99.97 0 CCDC39 99.74 0 CCDC40 100.00 0 CCDC65 99.80 0 CCDC96 100.00 0 CCNO 100.00 0 CENPF 99.97 0 CEP104 99.99 0 CEP120 99.90 0 CEP164 99.99 0 CEP290 98.10 0 CEP295 99.94 0 CEP41 99.99 0 CEP55 99.92 0 CEP83 98.68 0 CFAP251 99.98 0 CFAP298 99.96 0 CFAP300 99.47 0 CFAP410 100.00 0 CFAP418 100.00 0 CFAP44 99.75 0 CFAP53 99.95 0 CFAP69 99.09 0 CFC1 21.93 0 CILK1 99.69 0 CPLANE1 99.81 0 CRB2 99.95 0 CSPP1 98.31 0 DCDC2 99.96 0 DDX59 99.67 0 DEUP1 99.86 0 DHCR7 99.97 0 DLG5 99.91 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 DNAH5 99.98 0 DNAH8 99.84 0 DNAI1 99.92 0 DNAI2 99.86 0 DNAJB13 99.91 0 DNAH9 99.79 0 DRC1 99.93 0 DYNC2H1 99.66 0 DYNC2I1 99.99 0 DYNC2I2 99.98 0 DYNC2LI1 99.94 0 DYNLT2B 100.00 0 EVC 99.95 0 EVC2 99.97 0 EXOC3L2 99.88 0 EXOC6B 99.41 0 EXOC8 99.99 0 EXTL3 99.99 0 FAM149B1 99.69 0 FAM166B 99.99 0 FOXF1 99.99 0 FUZ 99.99 0 GAS2L2 100.00 0 GAS8 100.00 0 GLI3 100.00 0 GLIS2 100.00 0 HNF1B 100.00 0 HYDIN 81.28 0 HYLS1 100.00 0 IFT122 99.98 0 IFT140 100.00 0 IFT172 99.98 0 IFT27 100.00 0 IFT43 99.97 0 IFT52 99.82 0 IFT74 99.71 0 IFT80 99.69 0 IFT81 94.64 0 INPP5E 99.85 0 INTS13 98.20 0 INTU 99.92 0 INVS 99.94 0 IQCB1 99.72 0 IQCE 99.77 0 KATNIP 99.13 0 KCTD3 99.75 0 KIAA0586 95.75 0 KIAA0753 100.00 0 KIF14 97.80 0 KIF3B 99.99 0 KIF7 100.00 0 LBR 99.66 0 LCA5 99.89 0 LRRC34 99.52 0 LRRC45 99.98 0 LRRC56 99.98 0 LZTFL1 100.00 0 MAPKBP1 99.98 0 MCIDAS 100.00 0 MKKS 100.00 0 MKS1 99.92 0 MMP21 99.99 0 MRE11 99.93 0 NCAPG2 99.97 0 NEK1 99.83 0 NEK9 99.96 0 NME5 99.81 0 NME8 99.83 0 NPHP1 99.05 0 NPHP3 99.89 0 NPHP4 99.98 0 OCRL 99.89 0 ODAD1 96.04 0 ODAD2 98.19 0 ODAD3 99.96 0 ODAD4 99.85 0 OFD1 99.68 0 PDE6D 99.94 0 PIBF1 99.90 0 PIK3C2A 99.92 0 PKD1 99.98 0 PKD2 99.91 0 PKHD1 99.95 0 PMFBP1 99.89 0 PMM2 99.93 0 POC1A 99.98 0 POC1B 100.00 0 RAB28 99.97 0 RPGR 94.45 0 RPGRIP1L 96.35 0 RSPH1 99.87 0 RSPH3 99.94 0 RSPH4A 99.95 0 RSPH9 99.99 0 SBDS 99.93 0 SCLT1 95.17 0 SCNM1 99.47 0 SDCCAG8 100.00 0 SLC30A7 94.71 0 SPAG1 99.78 0 STK36 99.98 0 SUFU 100.00 0 TBC1D32 99.75 0 TCTN1 99.92 0 TCTN2 99.99 0 TCTN3 99.92 0 TMEM107 100.00 0 TMEM138 100.00 0 TMEM17 99.96 0 TMEM216 99.98 0 TMEM218 99.94 0 TMEM231 88.88 0 TMEM237 99.30 0 TMEM260 99.90 0 TMEM67 99.69 0 TOGARAM1 99.93 0 TOPORS 99.99 0 TRAF3IP1 99.96 0 TRIM32 100.00 0 TTC21B 99.50 0 TTC23 99.87 0 TTC26 99.97 0 TTC6 99.77 0 TTC8 99.67 0 TUBGCP4 99.80 0 TULP1 99.99 0 TULP3 99.91 0 TXNDC15 99.78 0 VHL 100.00 0 VPS13B 99.90 0 WDPCP 99.87 0 WDR19 99.80 0 WDR35 99.92 0 XPNPEP3 99.99 0 ZFYVE19 99.99 0 ZIC3 99.90 0 ZMYND10 99.99 0 ZNF423 98.94 0 ZSWIM6 98.94 0 -
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 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 , -
Skeletal dysplasia (genepanel) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ALPL 100.00 1 ALX3 100.00 1 ARID1A 99.99 1 B3GALT6 92.42 1 CDC73 99.98 1 COL11A1 99.99 1 COL9A2 100.00 1 CTSK 100.00 1 DDR2 100.00 1 DHCR24 100.00 1 DVL1 100.00 1 FAM20B 100.00 1 FUCA1 100.00 1 GNAI3 99.99 1 GNPAT 99.96 1 GORAB 99.99 1 HHAT 100.00 1 HS2ST1 99.93 1 HSPG2 99.99 1 IARS2 100.00 1 LBR 99.99 1 LMNA 100.00 1 NLRP3 100.00 1 NMNAT1 95.03 1 NOTCH2 100.00 1 NRAS 99.97 1 ORC1 100.00 1 P3H1 100.00 1 PHGDH 100.00 1 PIGV 100.00 1 PLOD1 100.00 1 POLR3GL 100.00 1 PRKACB 100.00 1 PRRX1 100.00 1 RBM8A 100.00 1 SDCCAG8 99.99 1 SF3B4 100.00 1 SKI 100.00 1 SLC25A24 99.30 1 SLC35D1 99.68 1 TBCE 100.00 1 TBX15 100.00 1 TGFB2 100.00 1 TMCO1 99.91 1 TMEM53 100.00 1 ZMPSTE24 99.99 1 CHST3 100.00 1 DNA2 99.99 1 FBXW4 98.98 1 FGFR2 100.00 1 KAT6B 100.00 1 KIF5B 99.93 1 PAPSS2 99.93 1 POLR3A 100.00 1 SLC29A3 100.00 1 SMC3 99.98 1 TCTN3 100.00 1 ALG9 94.06 1 ALX4 100.00 1 ANO5 100.00 1 ARCN1 100.00 1 B3GAT3 94.88 1 BANF1 100.00 1 BBS1 100.00 1 C2CD3 99.99 1 CDKN1C 100.00 1 CREB3L1 100.00 1 CYP2R1 98.84 1 DPAGT1 100.00 1 DYNC2H1 99.84 1 EED 100.00 1 EXT2 100.00 1 FAM111A 100.00 1 FAR1 99.98 1 FERMT3 100.00 1 HRAS 100.00 1 IFITM5 100.00 1 INPPL1 99.93 1 LRP4 100.00 1 LRP5 100.00 1 LTBP3 100.00 1 MMP13 99.99 1 NADSYN1 100.00 1 PIK3C2A 99.99 1 PLCB3 100.00 1 RASGRP2 100.00 1 SERPINH1 100.00 1 SLC39A13 100.00 1 TCIRG1 100.00 1 TMEM138 100.00 1 TMEM216 100.00 1 ABCC9 99.99 1 ALX1 100.00 1 ATP6V0A2 100.00 1 BBS10 100.00 1 CEP290 99.84 1 CHST11 100.00 1 COL2A1 100.00 1 CYP27B1 100.00 1 FGF23 100.00 1 GDF3 100.00 1 GNPTAB 100.00 1 GNS 100.00 1 IFT81 94.63 1 LEMD3 100.00 1 MAPKAPK5 100.00 1 MGP 100.00 1 PDE3A 100.00 1 PEX5 100.00 1 POLE 100.00 1 POLR3B 99.98 1 PTHLH 100.00 1 PTPN11 99.98 1 RFLNA 99.50 1 SP7 100.00 1 TBX3 100.00 1 TBX5 100.00 1 TCTN1 94.52 1 TCTN2 99.95 1 TRPV4 100.00 1 VDR 99.44 1 VPS33A 95.74 1 WNT1 100.00 1 WNT10B 100.00 1 FGF9 99.98 1 GPC6 100.00 1 KL 98.69 1 POLR1D 99.94 1 TGDS 99.99 1 TNFSF11 100.00 1 AKT1 100.00 1 GNPNAT1 99.99 1 GSC 100.00 1 IFT43 100.00 1 KIAA0586 95.70 1 LTBP2 100.00 1 MMP14 100.00 1 SEC23A 99.98 1 SIX1 100.00 1 SMOC1 100.00 1 SRP54 99.97 1 TGFB3 100.00 1 LYSET 100.00 1 TRIP11 99.98 1 TTC8 99.96 1 ACAN 98.67 1 ADAMTS17 98.97 1 BBS4 100.00 1 CEP152 99.99 1 CHST14 99.49 1 CHSY1 99.98 1 DLL4 100.00 1 EFL1 100.00 1 FBN1 100.00 1 FMN1 100.00 1 GREM1 100.00 1 IDH2 99.93 1 KIF7 99.98 1 LRRK1 100.00 1 MAP2K1 100.00 1 MESD 100.00 1 MESP2 100.00 1 PPIB 100.00 1 SMAD3 100.00 1 SMAD6 100.00 1 TCF12 100.00 1 ANKRD11 100.00 1 BBS2 100.00 1 CBFB 100.00 1 CDH3 100.00 1 CDK10 100.00 1 CDT1 99.07 1 CLCN7 99.78 1 COG4 100.00 1 CREBBP 100.00 1 DHODH 100.00 1 GALNS 100.00 1 GINS2 100.00 1 GNPTG 99.45 1 IFT140 100.00 1 KIF22 100.00 1 MBTPS1 100.00 1 MMP2 100.00 1 ORC6 99.99 1 PAM16 100.00 1 PRMT7 99.99 1 RPGRIP1L 98.82 1 RPL13 100.00 1 RSPRY1 100.00 1 SALL1 100.00 1 TBC1D24 100.00 1 TBX6 100.00 1 TMEM231 100.00 1 TRAF7 100.00 1 VAC14 100.00 1 XYLT1 98.81 1 ACTG1 100.00 1 BHLHA9 99.55 1 CANT1 99.97 1 CDC6 100.00 1 COG1 100.00 1 COL1A1 100.00 1 DLX3 100.00 1 EFTUD2 100.00 1 EIF4A3 99.99 1 FKBP10 100.00 1 FZD2 100.00 1 HES7 100.00 1 KCNJ2 100.00 1 KIAA0753 100.00 1 MEOX1 100.00 1 MKS1 100.00 1 MYH3 100.00 1 NAGLU 99.96 1 NF1 99.98 1 NOG 100.00 1 NXN 100.00 1 P4HB 100.00 1 PLEKHM1 100.00 1 PRKAR1A 100.00 1 PYCR1 100.00 1 SERPINF1 100.00 1 SGSH 100.00 1 SMARCE1 99.97 1 SOST 100.00 1 SOX9 100.00 1 SUZ12 99.97 1 TBX4 99.45 1 WNT3 100.00 1 XYLT2 100.00 1 DYM 99.99 1 LPIN2 99.99 1 RBBP8 99.96 1 SMAD2 100.00 1 SMAD4 100.00 1 SMCHD1 99.97 1 TNFRSF11A 97.91 1 ACP5 100.00 1 ADAMTS10 100.00 1 AKT2 100.00 1 APC2 99.99 1 B9D2 100.00 1 CCDC8 100.00 1 COMP 100.00 1 DLL3 99.85 1 DOCK6 100.00 1 EPS15L1 100.00 1 ERF 100.00 1 FUZ 100.00 1 GPX4 96.50 1 LONP1 100.00 1 MAN2B1 100.00 1 MEGF8 99.96 1 NFIX 99.97 1 PRKACA 100.00 1 SMARCA4 100.00 1 TGFB1 100.00 1 TYROBP 100.00 1 UBA2 99.97 1 ACVR1 100.00 1 AFF3 100.00 1 AGPS 99.76 1 ANAPC1 99.82 1 ARHGAP25 100.00 1 BBS5 99.97 1 CKAP2L 100.00 1 COLEC11 100.00 1 CRIPT 100.00 1 CYP26B1 100.00 1 DNMT3A 100.00 1 DYNC2LI1 100.00 1 EIF2AK3 99.96 1 EN1 100.00 1 EXOC6B 99.77 1 FN1 100.00 1 FOSL2 100.00 1 GALNT3 99.99 1 GLI2 100.00 1 HAAO 100.00 1 HDAC4 100.00 1 HOXD13 100.00 1 IDH1 100.00 1 IFIH1 99.99 1 IFT172 100.00 1 IHH 100.00 1 IL1RN 100.00 1 KYNU 99.99 1 LTBP1 100.00 1 MAP3K20 100.00 1 MATN3 99.95 1 MTX2 99.95 1 MYCN 99.97 1 NBAS 100.00 1 NPPC 100.00 1 OBSL1 99.99 1 ORC4 100.00 1 PAX3 100.00 1 PKDCC 99.76 1 POLR1A 100.00 1 POLR1B 100.00 1 SIX2 100.00 1 SMARCAL1 100.00 1 TMEM237 99.98 1 TRAF3IP1 100.00 1 TTC21B 99.97 1 WDPCP 91.91 1 WDR35 99.99 1 WNT6 100.00 1 ASXL1 100.00 1 BMP2 99.98 1 COL9A3 100.00 1 CTSA 100.00 1 DDRGK1 100.00 1 DPM1 97.07 1 ELMO2 100.00 1 GDF5 100.00 1 GNAS 100.00 1 GZF1 100.00 1 IFT52 100.00 1 LAMA5 99.87 1 MAFB 100.00 1 MKKS 99.98 1 MMP9 100.00 1 PLCB4 100.00 1 SALL4 100.00 1 SNRPB 100.00 1 CFAP410 100.00 1 DONSON 99.81 1 PCNT 100.00 1 ALG12 100.00 1 CCDC134 100.00 1 CDC45 100.00 1 EP300 100.00 1 FBLN1 99.89 1 MCM5 100.00 1 MYO18B 100.00 1 PISD 100.00 1 SMARCB1 100.00 1 SPECC1L 100.00 1 ALG3 100.00 1 ARHGAP31 100.00 1 ARL6 100.00 1 ATR 99.98 1 CASR 100.00 1 COPB2 100.00 1 CRTAP 99.90 1 DVL3 100.00 1 DYNLT2B 100.00 1 EOGT 99.99 1 FLNB 100.00 1 GLB1 100.00 1 HYAL1 100.00 1 IFT122 100.00 1 IFT80 99.94 1 LMOD3 100.00 1 MASP1 100.00 1 MECOM 100.00 1 NEPRO 99.99 1 PCYT1A 100.00 1 PIK3CA 99.97 1 PLOD2 99.95 1 POC1A 100.00 1 PTH1R 100.00 1 SETD2 99.99 1 SLCO2A1 100.00 1 SUMF1 100.00 1 TGFBR2 100.00 1 THPO 100.00 1 TOP2B 99.85 1 TP63 99.99 1 TRAIP 100.00 1 WNT5A 100.00 1 WNT7A 100.00 1 ZIC1 100.00 1 AGA 100.00 1 ANTXR2 100.00 1 BBS12 100.00 1 BBS7 99.97 1 BMPR1B 100.00 1 CC2D2A 98.21 1 CENPE 99.92 1 DMP1 100.00 1 DSPP 100.00 1 EDNRA 100.00 1 EVC 96.08 1 EVC2 100.00 1 FGFR3 100.00 1 HPGD 99.99 1 IDUA 99.84 1 INTU 100.00 1 MAB21L2 100.00 1 MANBA 99.99 1 NEK1 99.99 1 NKX3-2 100.00 1 PRKG2 99.98 1 RAB33B 100.00 1 RBPJ 100.00 1 SEC24D 100.00 1 SGMS2 100.00 1 SH3BP2 98.03 1 SLC10A7 100.00 1 TAPT1 98.76 1 TMEM165 99.97 1 UFSP2 99.99 1 WDR19 99.94 1 ANKH 100.00 1 ARSB 99.92 1 ARSK 99.98 1 B4GALT7 99.95 1 BNIP1 100.00 1 CEP120 99.96 1 CPLANE1 99.97 1 CSF1R 100.00 1 DNAJC21 100.00 1 FBN2 99.99 1 FGF10 100.00 1 HSPA9 100.00 1 IL6ST 99.99 1 KIAA0825 99.99 1 LIFR 99.94 1 MSX2 100.00 1 NIPBL 99.91 1 NPR3 100.00 1 NSD1 100.00 1 PDE4D 99.99 1 PDGFRB 100.00 1 PITX1 100.00 1 SH3PXD2B 100.00 1 SLC26A2 100.00 1 SPARC 100.00 1 SQSTM1 100.00 1 TCOF1 100.00 1 XRCC4 100.00 1 ZSWIM6 97.48 1 ARID1B 99.51 1 CCN6 100.00 1 CILK1 99.92 1 COL10A1 100.00 1 COL11A2 100.00 1 COL9A1 99.99 1 CUL7 100.00 1 DSE 99.66 1 EDN1 100.00 1 ENPP1 99.27 1 FIG4 100.00 1 FOXC1 99.89 1 GCM2 100.00 1 GJA1 100.00 1 GMNN 99.99 1 ID4 97.95 1 MAP3K7 100.00 1 MCM3 100.00 1 NEU1 100.00 1 OSTM1 99.96 1 PEX7 100.00 1 PGM3 100.00 1 POLR1C 97.57 1 RAB23 100.00 1 RIPPLY2 99.85 1 RUNX2 100.00 1 SCUBE3 100.00 1 SLC17A5 99.99 1 SLC35B2 100.00 1 TAB2 100.00 1 TENT5A 100.00 1 TFAP2B 100.00 1 TREM2 100.00 1 ACTB 100.00 1 BBS9 99.96 1 BMPER 100.00 1 COL1A2 100.00 1 CYP3A4 99.94 1 DLX5 100.00 1 DLX6 100.00 1 DYNC2I1 96.68 1 EZH2 99.98 1 FAM20C 99.99 1 FKBP14 99.95 1 GLI3 100.00 1 GUSB 100.00 1 HOXA11 100.00 1 HOXA13 96.84 1 KDELR2 100.00 1 LFNG 94.20 1 LMBR1 99.96 1 MCM7 100.00 1 MET 100.00 1 MNX1 87.84 1 POR 100.00 1 RINT1 99.95 1 SBDS 100.00 1 SFRP4 100.00 1 SHH 100.00 1 SLC4A2 100.00 1 SMO 99.99 1 SNX10 99.97 1 TBXAS1 99.99 1 TRPV6 99.41 1 TWIST1 100.00 1 ASAH1 99.99 1 BMP1 100.00 1 BPNT2 100.00 1 CA2 100.00 1 COLEC10 100.00 1 CSGALNACT1 100.00 1 CSPP1 99.99 1 ESCO2 99.74 1 EXT1 100.00 1 EXTL3 100.00 1 FGFR1 100.00 1 GDF6 99.99 1 HGSNAT 96.79 1 NSMCE2 100.00 1 POP1 100.00 1 PTDSS1 100.00 1 RAD21 100.00 1 RECQL4 99.80 1 RSPO2 100.00 1 SLCO5A1 100.00 1 SULF1 100.00 1 TMEM67 99.30 1 TNFRSF11B 100.00 1 TONSL 100.00 1 TRPS1 100.00 1 ABL1 100.00 1 ADAMTSL2 100.00 1 COL27A1 100.00 1 RIGI 99.97 1 DYNC2I2 100.00 1 HNRNPK 100.00 1 IL11RA 100.00 1 LMX1B 100.00 1 MTAP 100.00 1 NANS 100.00 1 NOTCH1 100.00 1 NPR2 100.00 1 ROR2 99.98 1 SLC34A3 100.00 1 TGFBR1 100.00 1 TMEM38B 100.00 1 TRIM32 100.00 1 VCP 100.00 1 ZNF462 100.00 1 AIFM1 100.00 1 AMER1 100.00 1 ARSL 100.00 1 ATP7A 100.00 1 BGN 100.00 1 CCNQ 99.81 1 CLCN5 100.00 1 EBP 100.00 1 EFNB1 100.00 1 FANCB 100.00 1 FGD1 100.00 1 FGF16 100.00 1 FLNA 100.00 1 GPC3 100.00 1 GPC4 100.00 1 HDAC8 100.00 1 IDS 100.00 1 IKBKG 100.00 1 MBTPS2 100.00 1 MID1 100.00 1 NSDHL 100.00 1 OFD1 100.00 1 PHEX 99.99 1 PLS3 100.00 1 PORCN 100.00 1 SHOX 94.83 1 SMC1A 100.00 1 SMS 100.00 1 TRAPPC2 100.00 1 ZIC3 100.00 1 -
Skeletal dysplasia - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCC9 99.92 1 ABL1 100.00 1 ACAN 91.51 1 ACP5 100.00 1 ACVR1 99.94 1 ADAMTS10 99.99 1 ADAMTS17 99.99 1 ADAMTSL2 99.99 1 AFF4 99.94 1 AGA 99.92 1 AGPS 98.83 1 AHDC1 100.00 1 AKT1 100.00 1 ALG12 100.00 1 ALG3 99.96 1 ALG9 99.73 1 ALPL 99.88 1 ALX1 97.99 1 ALX3 99.74 1 ALX4 100.00 1 AMER1 100.00 1 ANAPC1 75.83 1 ANKH 99.95 1 ANKRD11 99.85 1 ANO5 99.85 1 ANTXR2 99.67 1 ARHGAP31 100.00 1 ARID1A 99.83 1 ARID1B 99.69 1 SLURP1 99.99 1 ARSL 99.93 1 ASXL1 100.00 1 ASXL2 99.82 1 ATP6V0A2 99.92 1 B3GALT6 100.00 1 B3GAT3 87.74 1 B3GLCT 99.90 1 B4GALT7 99.99 1 B9D1 99.80 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 BHLHA9 100.00 1 BMP1 99.94 1 BMP2 99.79 1 BMPER 99.94 1 BMPR1B 99.61 1 BPNT2 100.00 1 C2CD3 99.88 1 CA2 99.62 1 CANT1 100.00 1 CASR 99.99 1 CC2D2A 99.95 1 CCDC134 100.00 1 CCDC8 100.00 1 CCN6 99.89 1 CCNQ 99.98 1 CD96 99.91 1 CDC45 99.77 1 CDC6 99.85 1 CDH3 99.98 1 CDKN1C 100.00 1 CDT1 100.00 1 CEP120 99.90 1 CEP290 98.10 1 CFAP410 100.00 1 CHD7 99.99 1 CHST14 100.00 1 CHST3 100.00 1 CHSY1 99.99 1 CILK1 99.69 1 CKAP2L 99.54 1 CLCN5 99.67 1 CLCN7 99.99 1 COG1 100.00 1 COG4 99.96 1 COL10A1 100.00 1 COL11A1 90.72 1 COL11A2 99.99 1 COL1A1 99.90 1 COL1A2 99.34 1 COL2A1 99.87 1 COL9A1 99.91 1 COL9A2 98.76 1 COL9A3 99.99 1 COLEC11 100.00 1 COMP 100.00 1 CPLANE1 99.81 1 CREB3L1 99.88 1 CREBBP 99.97 1 CRTAP 99.98 1 CSF1R 99.92 1 CSGALNACT1 100.00 1 CSPP1 98.31 1 CTSA 99.98 1 CTSC 99.97 1 CTSK 99.31 1 CUL7 100.00 1 CYP27B1 99.98 1 CYP2R1 99.96 1 DCC 99.96 1 DDR2 99.58 1 RIGI 99.84 1 DDX59 99.67 1 DHCR24 99.93 1 DHCR7 99.97 1 DHODH 99.99 1 DIP2C 100.00 1 DLL3 100.00 1 DLL4 100.00 1 DLX3 99.98 1 DLX5 99.98 1 DLX6 99.82 1 DMP1 99.99 1 DNMT3A 100.00 1 DOCK6 100.00 1 DPAGT1 100.00 1 DPM1 90.68 1 DSPP 99.99 1 DVL1 100.00 1 DVL3 99.99 1 DYM 99.96 1 DYNC2H1 99.66 1 DYNC2I1 99.99 1 DYNC2I2 99.98 1 DYNC2LI1 99.94 1 DYNLT2B 100.00 1 GLB1 100.00 1 EDNRA 99.97 1 EFNA4 99.92 1 EFNB1 99.95 1 EFTUD2 99.93 1 EIF2AK3 97.43 1 EIF4A3 99.99 1 ENPP1 99.88 1 EOGT 99.09 1 EP300 99.97 1 ERCC4 99.92 1 ERF 99.98 1 ESCO2 99.92 1 EVC 99.95 1 EVC2 99.97 1 EXT1 99.94 1 EXT2 99.98 1 EXTL3 99.99 1 EZH2 99.89 1 FAM111A 100.00 1 FAM20C 100.00 1 FBLN1 98.69 1 FBN1 99.85 1 FBN2 99.90 1 FBXW4 99.31 1 FERMT3 99.99 1 FGF10 99.95 1 FGF16 99.60 1 FGF23 100.00 1 FGF3 99.97 1 FGF4 100.00 1 FGF8 100.00 1 FGF9 100.00 1 FGFR1 100.00 1 FGFR2 99.99 1 FGFR3 100.00 1 FIG4 99.83 1 FKBP10 99.98 1 FLNA 99.99 1 FLNB 99.98 1 FMN1 99.98 1 FREM1 99.98 1 FUCA1 98.72 1 FZD2 99.98 1 GALNS 99.98 1 GALNT3 99.52 1 GDF3 100.00 1 GDF5 100.00 1 GDF6 100.00 1 GFER 100.00 1 GJA1 100.00 1 GLI3 100.00 1 GNAS 100.00 1 GNPAT 99.78 1 GNPNAT1 99.99 1 GNPTAB 99.76 1 GNPTG 100.00 1 GNS 99.59 1 GORAB 99.59 1 GPC6 99.98 1 GPX4 100.00 1 GREM1 100.00 1 GUSB 95.07 1 GZF1 100.00 1 HDAC4 99.98 1 HDAC8 99.74 1 HES7 100.00 1 HGSNAT 99.93 1 HNRNPK 99.93 1 HOXA11 99.99 1 HOXA13 99.94 1 HOXD13 99.98 1 HPGD 99.98 1 HS2ST1 95.79 1 HSPG2 99.87 1 IDH1 99.91 1 IDH2 100.00 1 IDS 99.82 1 IDUA 99.99 1 IFIH1 99.84 1 IFITM5 100.00 1 IFT122 99.98 1 IFT140 100.00 1 IFT172 99.98 1 IFT43 99.97 1 IFT52 99.82 1 IFT80 99.69 1 IFT81 94.64 1 IHH 100.00 1 IKBKG 57.34 1 IL11RA 99.98 1 IL1RN 99.64 1 INPPL1 99.97 1 KAT6B 99.79 1 KDELR2 99.98 1 KIAA0753 100.00 1 KIAA1217 99.99 1 KIF22 99.89 1 KIF7 100.00 1 KMT2D 99.98 1 LBR 99.66 1 LEMD3 99.07 1 LFNG 100.00 1 LIFR 99.69 1 LMBR1 99.88 1 LMNA 99.96 1 LMX1B 100.00 1 LONP1 99.99 1 LPIN2 100.00 1 CORIN 99.89 1 LRP5 99.95 1 LTBP2 99.97 1 MAFB 100.00 1 MAN2B1 99.99 1 MAN2C1 99.96 1 MAP3K7 99.33 1 MASP1 99.99 1 MATN3 99.97 1 MBTPS2 99.81 1 MEGF8 99.90 1 MEOX1 99.99 1 MESP2 99.99 1 MGP 99.95 1 MIA2 99.72 1 MIA3 99.84 1 MKKS 100.00 1 MKS1 99.92 1 MMP13 99.96 1 MMP2 99.96 1 MMP9 100.00 1 MNX1 99.83 1 MPDU1 99.97 1 MSX2 100.00 1 MTX2 99.20 1 MYCN 100.00 1 MYL11 99.85 1 NAGLU 100.00 1 NANS 100.00 1 NBAS 99.86 1 NEK1 99.83 1 NEU1 99.98 1 NF1 99.88 1 NFIX 99.99 1 NIPBL 99.34 1 NKX3-2 99.99 1 NLRP3 100.00 1 NOG 100.00 1 NOTCH1 99.98 1 NOTCH2 99.03 1 NPPC 100.00 1 NPRL2 99.99 1 NSD1 99.98 1 NSDHL 99.87 1 NXN 99.92 1 OBSL1 100.00 1 OFD1 99.68 1 SLC25A15 99.70 1 ORC4 99.70 1 ORC6 99.82 1 OSTM1 99.56 1 P3H1 99.89 1 P4HB 99.99 1 PAM16 100.00 1 PAN2 99.95 1 PAPSS2 99.91 1 PAX3 100.00 1 PCNT 99.97 1 PCYT1A 100.00 1 PDE3A 99.97 1 PDE4D 99.89 1 PEX5 99.89 1 PEX7 99.72 1 PGM3 99.94 1 PHEX 99.83 1 PHGDH 99.79 1 PIGT 99.95 1 PIGV 100.00 1 PIK3C2A 99.92 1 PIK3CA 99.74 1 PISD 100.00 1 PITX1 100.00 1 PLEKHM1 99.77 1 PLOD2 99.66 1 PLS3 99.75 1 POC1A 99.98 1 POLR1A 99.93 1 POLR1C 100.00 1 POLR1D 100.00 1 BVES 99.94 1 PORCN 99.98 1 PPIB 100.00 1 PRKAR1A 100.00 1 PRKG2 99.75 1 PRMT7 99.95 1 PSAT1 99.98 1 PSPH 99.09 1 PTDSS1 99.95 1 PTH1R 99.93 1 PTHLH 99.89 1 PTPN11 99.98 1 PUF60 100.00 1 PYCR1 99.99 1 RAB23 99.97 1 RAB33B 100.00 1 RAD21 99.91 1 RASGRP2 100.00 1 RBM8A 99.37 1 RBPJ 99.96 1 RECQL4 100.00 1 RFT1 99.79 1 RIN1 100.00 1 RNU4ATAC 99.95 1 ROR2 99.99 1 RPGRIP1L 96.35 1 RPL13 99.96 1 RUNX2 100.00 1 SALL1 100.00 1 SALL4 100.00 1 SBDS 99.93 1 SCARF2 99.94 1 SCUBE3 99.96 1 SEC24D 99.94 1 SERPINF1 100.00 1 SERPINH1 100.00 1 SETD2 99.91 1 SF3B4 99.65 1 SFRP4 99.99 1 SGSH 100.00 1 SH3BP2 100.00 1 SH3PXD2B 100.00 1 SHH 100.00 1 SHOX 92.70 1 HHAT 99.98 1 SLC10A7 99.95 1 SLC17A5 99.71 1 SLC26A2 100.00 1 SLC29A3 99.98 1 SLC34A1 99.99 1 SLC34A3 100.00 1 SLC35C1 100.00 1 SLC35D1 87.50 1 SLC39A13 99.98 1 SLCO2A1 99.99 1 SLCO5A1 99.98 1 SMAD3 99.99 1 SMAD4 99.97 1 SMARCAL1 99.97 1 SMC1A 99.98 1 SMC3 99.91 1 SMO 99.99 1 SMOC1 100.00 1 SNRPB 99.96 1 SNX10 99.96 1 SOST 100.00 1 SOX9 100.00 1 SP7 100.00 1 SPARC 99.94 1 SUCO 98.05 1 SULF1 99.99 1 SUMF1 99.95 1 TALDO1 100.00 1 TAPT1 99.64 1 TBCE 99.91 1 TBX15 99.81 1 TBX3 100.00 1 TBX4 99.96 1 TBX5 99.98 1 TBX6 99.99 1 TBXAS1 100.00 1 TCF12 99.97 1 TCIRG1 99.99 1 TCOF1 99.99 1 TCTN2 99.99 1 TCTN3 99.92 1 TENT5A 99.97 1 TERT 100.00 1 TGFB1 100.00 1 TGFB2 99.87 1 TGFBR1 99.94 1 TGFBR2 99.98 1 THPO 100.00 1 TMEM165 99.97 1 TMEM216 99.98 1 TMEM231 88.88 1 TMEM38B 99.95 1 TMEM67 99.69 1 TNFRSF11A 100.00 1 TNFRSF11B 100.00 1 TNFSF11 99.89 1 TONSL 100.00 1 TP63 99.97 1 TRAPPC2 99.41 1 TREM2 100.00 1 TRIP11 99.90 1 TRPS1 100.00 1 TRPV4 100.00 1 TRPV6 99.99 1 TTC21B 99.50 1 TTC8 99.67 1 TWIST1 100.00 1 TYROBP 99.95 1 VDR 99.86 1 VPS35L 99.07 1 WDPCP 99.87 1 WDR19 99.80 1 WDR35 99.92 1 WNT1 99.97 1 WNT10B 99.97 1 WNT3 99.99 1 WNT3A 100.00 1 WNT5A 100.00 1 WNT7A 99.99 1 XRCC4 99.89 1 XYLT1 99.98 1 XYLT2 99.97 1 ZMPSTE24 98.70 1 ZSWIM6 98.94 1