- Analytes
- COL3A1
COL3A1
Name: |
collagen type III alpha 1 chain
|
Symbol: |
COL3A1
|
Version of Orphanet: |
2023-06-22 14:14:43
|
XREF(s): | |
Created: |
13 May 2019 - 01:01
|
Changed: |
26 Oct 2023 - 23:49
|
- Aneurysm, Thoracic Aortic, familial (gene panel)
- Congenital malformation (gene panel - 1721 genes)
- Congenital malformation gene panel
- Corneal dystrophy (gene panel)
- Dermatogenetic panel, severe, rare and hereditary genodermatoses (gene panel - 394 genes)
- Ehlers-Danlos Syndrome, vascular type (type IV)
- Ehlers-Danlos syndroom, EDS (gene panel)
- Familial Thoracic Aortic Aneurysm (gene panel)
- Malformations of cortical development (235 genes)
- Stroke (gene panel)
- Trombosis - Hemostasis (gene panel)
-
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 -
Corneal dystrophy - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AGBL1 99.99 1 CHRDL1 99.94 1 CHST6 100.00 1 COL17A1 99.98 1 COL3A1 99.87 1 COL5A1 99.99 1 COL8A2 99.94 1 CYP4V2 99.98 1 DCN 99.42 1 GRHL2 100.00 1 GSN 99.93 1 KERA 99.95 1 KRT12 99.92 1 KRT3 99.89 1 LCAT 99.97 1 LOXHD1 99.99 1 NLRP1 95.26 1 NLRP3 100.00 1 OVOL2 100.00 1 PAX6 99.95 1 PIKFYVE 99.81 1 PITX2 99.98 1 PRDM5 99.76 1 SLC4A11 100.00 1 SOD1 99.97 1 STS 99.81 1 TACSTD2 100.00 1 TCF4 98.56 1 TGFBI 99.89 1 UBIAD1 99.98 1 VSX1 99.93 1 ZEB1 100.00 1 ZNF469 100.00 1 -
Dermatogenetic / severe, rare and hereditary genodermatoses (394 genes) - ULB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments A2ML1 100.00 0 AAGAB 97.88 0 ABCA12 100.00 0 ABCB6 100.00 0 ABCC6 99.97 0 ABHD5 100.00 0 ACD 100.00 0 ADAM10 100.00 0 ADAMTS2 95.82 0 ADAR 100.00 0 AIM1 100.00 0 AKT1 100.00 0 ALDH18A1 100.00 0 ALDH3A2 99.94 0 ALOX12B 100.00 0 ALOXE3 100.00 0 ANTXR1 100.00 0 AP1S1 100.00 0 AP3B1 100.00 0 APCDD1 99.97 0 AQP5 99.87 0 ARHGAP31 100.00 0 ARSL 99.95 0 ASAH1 100.00 0 ATM 100.00 0 ATP2A2 100.00 0 ATP2C1 100.00 0 ATP6V0A2 99.98 0 ATP6V1A 100.00 0 ATP6V1E1 99.99 0 ATP7A 100.00 0 AXIN2 100.00 0 B3GALT6 63.11 0 B4GALT7 90.91 0 BANF1 97.55 0 BCS1L 100.00 0 BLM 100.00 0 BLOC1S3 95.69 0 BLOC1S6 100.00 0 BRAF 96.86 0 LRMDA 100.00 0 KDF1 100.00 0 CARD14 99.96 0 CBL 100.00 0 CBS 99.92 0 CD151 99.99 0 CDH3 100.00 0 CDK4 100.00 0 CDKN1B 100.00 0 CDKN2A 99.69 0 CDSN 99.93 0 CERS3 100.00 0 CHST14 99.81 0 CHST8 100.00 0 CHUK 99.59 0 CLCF1 100.00 0 CLDN1 100.00 0 CLDN10 100.00 0 COG6 100.00 0 COL11A1 100.00 0 COL12A1 100.00 0 COL17A1 100.00 0 COL1A1 100.00 0 COL1A2 99.41 0 COL3A1 99.99 0 COL5A1 98.23 0 COL5A2 100.00 0 COL7A1 100.00 0 CREBBP 99.98 0 CRLF1 89.67 0 CSTA 100.00 0 CTC1 99.71 0 CTSC 100.00 0 CYLD 100.00 0 CYP26C1 97.30 0 CYP4F22 99.27 0 DDB2 100.00 0 DIP2B 99.71 0 DKC1 99.92 0 DLL4 100.00 0 DLX3 99.95 0 DNMT1 99.69 0 DOCK6 99.13 0 DOLK 100.00 0 DSC3 98.96 0 DSE 100.00 0 DSG1 100.00 0 DSG2 99.89 0 DSG4 100.00 0 DSP 100.00 0 DST 100.00 0 DTNBP1 99.96 0 GLB1 100.00 0 ECM1 100.00 0 EDA 99.05 0 EDAR 100.00 0 EDARADD 100.00 0 EDN3 99.95 0 EDNRB 100.00 0 EFEMP2 100.00 0 ELN 99.96 0 ELOVL4 100.00 0 ENPP1 97.25 0 EOGT 100.00 0 EP300 100.00 0 EPG5 99.99 0 ERCC2 99.35 0 ERCC3 100.00 0 ERCC4 99.99 0 ERCC5 100.00 0 ERCC6 100.00 0 ERCC8 100.00 0 EVC 94.53 0 EVC2 98.69 0 EXPH5 100.00 0 F12 99.81 0 FAM111B 100.00 0 RETREG1 93.87 0 FAM83G 100.00 0 FBLN5 100.00 0 FBN1 100.00 0 FBN2 100.00 0 FERMT1 99.96 0 FGFR2 100.00 0 FGFR3 99.36 0 FH 100.00 0 FKBP14 100.00 0 FLCN 100.00 0 FGFR1 100.00 0 FLG2 100.00 0 FOXN1 100.00 0 FZD6 100.00 0 GALNT3 100.00 0 GAN 98.95 0 GBA1 100.00 0 GGCX 99.91 0 GHR 99.21 0 GJA1 100.00 0 GJB2 100.00 0 GJB3 100.00 0 GJB4 100.00 0 GJB6 100.00 0 GLA 100.00 0 GNAS 100.00 0 GORAB 100.00 0 GPR143 89.17 0 GRHL2 100.00 0 GSN 97.95 0 GTF2E2 100.00 0 GTF2H5 100.00 0 HAMP 100.00 0 HCCS 100.00 0 HDAC8 99.82 0 HFE 100.00 0 HJV 100.00 0 HGD 100.00 0 HLCS 100.00 0 HOXC13 96.56 0 HPGD 99.87 0 HPS1 100.00 0 HPS3 99.99 0 HPS4 99.99 0 HPS5 100.00 0 HPS6 96.32 0 HR 99.78 0 HRAS 100.00 0 IFT122 99.99 0 IFT43 100.00 0 ELP1 100.00 0 IKBKG 96.27 0 IL31RA 100.00 0 INSR 96.81 0 ITGA3 99.99 0 ITGA6 100.00 0 ITGB4 98.77 0 JUP 100.00 0 KANK2 99.99 0 KCNH1 100.00 0 KCTD1 100.00 0 KDM6A 99.63 0 KDSR 99.98 0 KIF1A 99.07 0 KIT 99.98 0 KITLG 100.00 0 KL 96.52 0 KLHL24 100.00 0 KLLN 100.00 0 KMT2D 99.99 0 KRAS 100.00 0 KREMEN1 92.10 0 KRT1 99.80 0 KRT10 99.93 0 KRT14 100.00 0 KRT16 99.48 0 KRT17 92.10 0 KRT2 100.00 0 KRT5 100.00 0 KRT6A 100.00 0 KRT6B 100.00 0 KRT6C 99.44 0 KRT71 99.95 0 KRT74 99.99 0 KRT81 100.00 0 KRT83 99.99 0 KRT85 99.27 0 KRT86 99.98 0 KRT9 100.00 0 LAMA4 99.75 0 LAMB3 100.00 0 LAMC2 99.43 0 LEMD3 99.97 0 LIPH 100.00 0 LIPN 100.00 0 LMNA 99.52 0 LMX1B 99.55 0 LORICRIN 100.00 0 LPAR6 100.00 0 LRP1 100.00 0 LTBP4 99.49 0 LYST 100.00 0 LZTR1 99.92 0 MAP2K1 100.00 0 MAP2K2 99.99 0 MAPRE2 100.00 0 MBTPS2 100.00 0 MC1R 100.00 0 MEN1 99.83 0 MITF 100.00 0 MLH1 99.99 0 MLPH 100.00 0 MMP1 99.99 0 MMP2 99.93 0 MPDU1 100.00 0 MPLKIP 100.00 0 MSH2 100.00 0 MSH6 99.92 0 MSMO1 100.00 0 MSX1 99.53 0 MUTYH 100.00 0 MYO5A 99.78 0 NF1 98.85 0 NF2 99.97 0 NFKBIA 99.97 0 NGF 100.00 0 NHP2 100.00 0 NIPAL4 100.00 0 NIPBL 99.62 0 RMRP 100.00 0 NOP10 100.00 0 NOTCH1 98.81 0 NRAS 100.00 0 NSDHL 100.00 0 NTRK1 98.91 0 OCA2 99.73 0 OFD1 97.68 0 ORAI1 93.55 0 OSMR 100.00 0 PADI3 100.00 0 PARN 100.00 0 PAX3 100.00 0 PDGFRB 100.00 0 PEX7 96.12 0 PHYH 99.87 0 PIGL 100.00 0 PIK3CA 100.00 0 PKP1 100.00 0 PLCD1 99.74 0 PLEC 99.33 0 PLOD1 98.77 0 PLOD3 99.97 0 PMS2 98.83 0 PNPLA1 99.66 0 POFUT1 99.99 0 POGLUT1 100.00 0 POLD1 99.84 0 POLH 100.00 0 NT5C3A 100.00 0 PORCN 99.13 0 PPP1CB 100.00 0 PRDM12 83.27 0 PRDM5 100.00 0 PRKAR1A 100.00 0 PRKD1 97.12 0 PSAT1 99.73 0 PSENEN 100.00 0 PTCH1 99.03 0 PTCH2 100.00 0 PTDSS1 100.00 0 PTEN 99.64 0 PTPN11 94.81 0 NECTIN1 99.68 0 NECTIN4 99.41 0 PYCR1 100.00 0 RAB27A 100.00 0 RAD21 100.00 0 RAF1 100.00 0 RASA2 99.74 0 RBPJ 99.69 0 RECQL4 96.90 0 RET 96.88 0 RHBDF2 100.00 0 RIN2 100.00 0 RIPK4 99.98 0 RIT1 100.00 0 RNF113A 100.00 0 RPL21 84.30 0 RRAS 98.63 0 RSPO1 100.00 0 RTEL1 100.00 0 SASH1 99.88 0 SCN11A 99.99 0 SCN9A 99.99 0 SDHB 99.35 0 SDHD 99.95 0 SEC23B 100.00 0 SERPINB7 100.00 0 SERPINB8 100.00 0 SERPING1 97.68 0 SETBP1 100.00 0 SGPL1 100.00 0 SHOC2 100.00 0 HHAT 93.18 0 SKIC2 100.00 0 SLC24A5 100.00 0 SLC27A4 99.97 0 SLC29A3 95.73 0 SLC2A10 97.06 0 SLC39A13 100.00 0 SLC39A4 100.00 0 SLC45A2 100.00 0 SLC6A19 99.99 0 SLURP1 100.00 0 SMAD3 100.00 0 SMARCAD1 99.97 0 SMARCB1 100.00 0 SMC3 100.00 0 SMPD1 100.00 0 SNAI2 100.00 0 SNAP29 100.00 0 SNRPE 99.04 0 SOS1 100.00 0 SOS2 99.97 0 SOX10 97.31 0 SPINK5 100.00 0 SPRED1 100.00 0 SPRY1 100.00 0 SPTLC1 99.44 0 SRD5A3 98.97 0 ST14 99.95 0 STK11 99.81 0 STS 99.94 0 SUFU 100.00 0 SULT2B1 100.00 0 SUMF1 100.00 0 TAT 100.00 0 TCHH 100.00 0 TERT 93.51 0 TFR2 100.00 0 TGFB2 99.97 0 TGFB3 100.00 0 TGFBR1 91.97 0 TGFBR2 100.00 0 TGM1 100.00 0 TGM3 100.00 0 TGM5 100.00 0 TINF2 99.96 0 TMC6 99.87 0 TNXB 100.00 0 TP63 100.00 0 TRPS1 100.00 0 TRPV3 99.99 0 TSC1 100.00 0 TSC2 99.99 0 SKIC3 99.99 0 TUBB 100.00 0 TWIST2 99.15 0 TYR 100.00 0 TYRP1 100.00 0 UBR1 100.00 0 USB1 100.00 0 UVSSA 100.00 0 VPS33B 100.00 0 WDR19 100.00 0 WDR35 100.00 0 WNK1 100.00 0 WNT10A 94.15 0 WRAP53 100.00 0 WRN 100.00 0 XPA 97.89 0 XPC 100.00 0 ZMPSTE24 100.00 0 ZNF469 99.97 0 ZNF750 100.00 0 TERC 100.00 0 t -
Ehlers-Danlos syndrome -UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ADAMTS2 100.00 1 AEBP1 100.00 1 B3GALT6 100.00 1 B3GAT3 100.00 1 B4GALT7 100.00 1 C1R 100.00 1 C1S 100.00 1 CHST14 100.00 1 COL12A1 100.00 1 COL1A1 100.00 1 COL1A2 100.00 1 COL3A1 100.00 1 COL5A1 100.00 1 COL5A2 100.00 1 DSE 100.00 1 FKBP14 100.00 1 PLOD1 100.00 1 PRDM5 100.00 1 RIN2 100.00 1 SLC39A13 100.00 1 XYLT1 100.00 1 XYLT2 100.00 1 ZNF469 100.00 1 FLNA 100.00 1 FLNB 100.00 1 TAB2 100.00 1 -
Familial Thoracic Aortic Aneurysm (21 genes) - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACTA2 100.00 1 BGN 100.00 1 COL3A1 100.00 1 FBN1 100.00 1 FOXE3 100.00 1 HCN4 100.00 1 LOX 100.00 1 LTBP3 100.00 1 MAT2A 100.00 1 MFAP5 100.00 1 MYH11 100.00 1 MYLK 100.00 1 PRKG1 100.00 1 SMAD2 100.00 1 SMAD3 100.00 1 TGFB2 100.00 1 TGFB3 100.00 1 TGFBR1 100.00 1 TGFBR2 100.00 1 IPO8 100.00 1 EFEMP2 100.00 1 -
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 -
Familiale thoracale aorta aneurysmata (19 genes) - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACTA2 BGN COL3A1 FBN1 FOXE3 HCN4 LOX LTBP3 MAT2A MFAP5 MYH11 MYLK PRKG1 SMAD2 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2 -
Malformations of cortical development (235 genes) - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACTB 100.00 0 No comment ACTG1 100.00 0 No comment ADGRG1 100.00 0 No comment AGBL2 96.33 0 No comment AHI1 100.00 0 No comment AKT1 100.00 0 No comment AKT3 100.00 0 No comment AP1S2 100.00 0 No comment AP4E1 100.00 0 No comment AP4M1 100.00 0 No comment AP4S1 87.40 0 No comment ARFGEF2 100.00 0 No comment ARHGAP31 100.00 0 No comment ARID1B 92.99 0 No comment ARL13B 100.00 0 No comment ARX 78.98 0 No comment ASNS 100.00 0 No comment ASPM 100.00 0 No comment ASXL1 99.91 0 No comment ATP6V0A2 100.00 0 No comment ANTXR1 100.00 0 No comment B3GALNT2 85.88 0 No comment B3GNT2 100.00 0 No comment B4GAT1 100.00 0 No comment BICD2 100.00 0 No comment C2CD3 100.00 0 No comment CACNA1E 100.00 0 No comment CASK 100.00 0 No comment CCND2 100.00 0 No comment CDK5 100.00 0 No comment CDK5RAP2 100.00 0 No comment CDK6 100.00 0 No comment CDON 100.00 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 CEP55 100.00 0 No comment CHD7 100.00 0 No comment CHD8 100.00 0 No comment CIT 100.00 0 No comment CKAP2L 100.00 0 No comment CNOT1 100.00 0 No comment CNTNAP2 99.85 0 No comment COL18A1 97.80 0 No comment COL3A1 100.00 0 No comment COL4A1 98.71 0 No comment COL4A2 100.00 0 No comment CRADD 100.00 0 No comment CRPPA 95.75 0 No comment CSPP1 100.00 0 No comment CUL4B 100.00 0 No comment DAB1 100.00 0 No comment DAG1 100.00 0 No comment DCHS1 99.64 0 No comment DCLK2 100.00 0 No comment DCX 100.00 0 No comment DDX3X 100.00 0 No comment DEPDC5 99.62 0 No comment DHCR7 100.00 0 No comment DISP1 100.00 0 No comment DKC1 100.00 0 No comment DOCK6 99.12 0 No comment DYNC1H1 100.00 0 No comment EIF2AK3 95.52 0 No comment EIF2S3 100.00 0 No comment EMG1 100.00 0 No comment EML1 97.08 0 No comment EMX2 100.00 0 No comment EOMES 98.56 0 No comment EPG5 100.00 0 No comment ERCC1 100.00 0 No comment ERCC2 100.00 0 No comment ERCC5 100.00 0 No comment ERCC6 100.00 0 No comment ERMARD 100.00 0 No comment EZH2 100.00 0 No comment FAT4 100.00 0 No comment FGF8 94.82 0 No comment FH 100.00 0 No comment FIG4 100.00 0 No comment FKRP 98.68 0 No comment FKTN 100.00 0 No comment FLNA 100.00 0 No comment FOXC1 62.57 0 No comment FOXG1 85.88 0 No comment FOXH1 100.00 0 No comment FUBP1 100.00 0 No comment GAS1 62.99 0 No comment GLI2 95.11 0 No comment GMPPB 100.00 0 No comment GNAQ 100.00 0 No comment GPC3 100.00 0 No comment GPSM2 100.00 0 No comment GRIN1 99.97 0 No comment GRIN2B 100.00 0 No comment HEPACAM 96.82 0 No comment HERC1 100.00 0 No comment HNRNPU 99.54 0 No comment HSD17B4 100.00 0 No comment HYLS1 100.00 0 No comment IER3IP1 99.93 0 No comment INTS8 100.00 0 No comment JAM3 100.00 0 No comment KAT6A 100.00 0 No comment KAT6B 100.00 0 No comment KATNB1 100.00 0 No comment KDM5C 100.00 0 No comment KIF11 100.00 0 No comment KIFBP 100.00 0 No comment KIF21B 100.00 0 No comment KIF2A 98.88 0 No comment KIF5C 100.00 0 No comment KIF7 96.94 0 No comment KNL1 98.62 0 No comment L1CAM 100.00 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 LARGE1 100.00 0 No comment MACF1 100.00 0 No comment MAN2C1 100.00 0 No comment MAP1B 100.00 0 No comment MAPK8IP3 99.25 0 No comment MCPH1 100.00 0 No comment MECP2 98.28 0 No comment MED12 99.96 0 No comment MED17 100.00 0 No comment MEF2C 100.00 0 No comment MFSD2A 100.00 0 No comment MID1 100.00 0 No comment MPDZ 100.00 0 No comment MTOR 100.00 0 No comment MYCN 86.70 0 No comment MYH10 100.00 0 No comment NBN 100.00 0 No comment NDE1 100.00 0 No comment NEDD4L 100.00 0 No comment NFIB 100.00 0 No comment NHEJ1 100.00 0 No comment NIPBL 99.98 0 No comment NODAL 99.99 0 No comment NPRL2 100.00 0 No comment NPRL3 100.00 0 No comment NR2F1 92.00 0 No comment NSD1 100.00 0 No comment NSDHL 100.00 0 No comment OCLN 100.00 0 No comment OFD1 99.88 0 No comment PAFAH1B1 100.00 0 No comment PAX6 100.00 0 No comment PCNT 100.00 0 No comment PEX1 100.00 0 No comment PI4KA 99.44 0 No comment PIGA 100.00 0 No comment PIK3CA 100.00 0 No comment PIK3R2 89.19 0 No comment PITX2 100.00 0 No comment PLK4 100.00 0 No comment PNKP 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 PRRX1 100.00 0 No comment PSAT1 100.00 0 No comment PTCH1 98.48 0 No comment PTEN 98.86 0 No comment PYCR2 100.00 0 No comment QARS1 100.00 0 No comment RAB18 100.00 0 No comment RAB3GAP1 100.00 0 No comment RAB3GAP2 100.00 0 No comment RELN 99.96 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 RNU4ATAC 100.00 0 No comment RTTN 100.00 0 No comment RXYLT1 99.84 0 No comment SAMHD1 100.00 0 No comment SCN3A 100.00 0 No comment SETD5 100.00 0 No comment SF3B4 100.00 0 No comment SHH 92.83 0 No comment SIN3A 99.82 0 No comment SIX3 99.59 0 No comment SLC25A19 100.00 0 No comment SLC35A2 100.00 0 No comment SLC9A6 99.96 0 No comment SMPD4 99.97 0 No comment SNAP29 100.00 0 No comment SOX9 97.88 0 No comment AFG2A 100.00 0 No comment SRD5A3 99.42 0 No comment SRPX2 100.00 0 No comment STAMBP 100.00 0 No comment STIL 100.00 0 No comment STRADA 100.00 0 No comment TBC1D20 93.59 0 No comment TBC1D24 100.00 0 No comment TBC1D7 100.00 0 No comment TCF4 100.00 0 No comment TCTN1 93.78 0 No comment TGIF1 100.00 0 No comment TMEM216 100.00 0 No comment TMEM67 100.00 0 No comment TMX2 100.00 0 No comment TREX1 100.00 0 No comment TSC1 100.00 0 No comment TSC2 100.00 0 No comment TSEN54 94.23 0 No comment TUBA1A 100.00 0 No comment TUBA8 100.00 0 No comment TUBB 99.87 0 No comment TUBB2A 99.99 0 No comment TUBB2B 100.00 0 No comment TUBB3 98.24 0 No comment TUBB4A 99.85 0 No comment TUBG1 100.00 0 No comment TUBGCP4 99.99 0 No comment TUBGCP6 100.00 0 No comment UBE3A 100.00 0 No comment VLDLR 96.53 0 No comment VPS13B 99.25 0 No comment WDR62 100.00 0 No comment WDR73 100.00 0 No comment YWHAE 98.69 0 No comment ZEB2 100.00 0 No comment ZIC2 80.54 0 No comment ZNF335 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 -
Trombosis - Hemostasis (107 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCC4 95.00 0 NM_005845.4/ interpretable range CS1>95% ABCG5 95.00 0 NM_022436.2/ interpretable range CS1>95% ABCG8 95.00 0 NM_022437.2/ interpretable range CS1>95% ACTB 95.00 0 NM_001101.4/ interpretable range CS1>95% ACTN1 95.00 0 NM_001130004.1/ interpretable range CS1>95% ACVRL1 95.00 0 NM_000020.2/ interpretable range CS1>95% ADAMTS13 95.00 0 NM_139025.4/ interpretable range CS1>95% ANKRD26 95.00 0 NM_014915.2/ interpretable range CS1>95% ANO6 95.00 0 NM_001025356.2/ interpretable range CS1>95% AP3B1 95.00 0 NM_003664.4/ interpretable range CS1>95% AP3D1 95.00 0 NM_001261826.1/ interpretable range CS1>95% ARPC1B 95.00 0 NM_005720.3/ interpretable range CS1>95% BLOC1S3 95.00 0 NM_212550.3/ interpretable range CS1>95% BLOC1S5 95.00 0 NM_201280.2/ interpretable range CS1>95% BLOC1S6 95.00 0 NM_012388.2/ interpretable range CS1>95% CDC42 95.00 0 NM_001791.3/ interpretable range CS1>95% CHST14 95.00 0 NM_130468.3/ interpretable range CS1>95% COL1A1 95.00 0 NM_000088.3/ interpretable range CS1>95% COL3A1 95.00 0 NM_000090.3/ interpretable range CS1>95% COL4A1 95.00 0 NM_001845.5/ interpretable range CS1>95% COL4A2 95.00 0 NM_001846.3/ interpretable range CS1>95% COL5A1 95.00 0 NM_000093.4/ interpretable range CS1>95% COL5A2 95.00 0 NM_000393.3/ interpretable range CS1>95% CYCS 95.00 0 NM_018947.5/ interpretable range CS1>95% DIAPH1 95.00 0 NM_005219.4/ interpretable range CS1>95% DTNBP1 95.00 0 NM_032122.4/ interpretable range CS1>95% ENG 95.00 0 NM_000118.3/ interpretable range CS1>95% ETV6 95.00 0 NM_001987.4/ interpretable range CS1>95% F10 95.00 0 NM_000504.3/ interpretable range CS1>95% F11 95.00 0 NM_000128.3/ interpretable range CS1>95% F12 95.00 0 NM_000505.3/ interpretable range CS1>95% F13A1 95.00 0 NM_000129.3/ interpretable range CS1>95% F13B 95.00 0 NM_001994.2/ interpretable range CS1>95% F2 95.00 0 NM_000506.3/ interpretable range CS1>95% F5 95.00 0 NM_000130.4/ interpretable range CS1>95% F7 95.00 0 NM_000131.4/ interpretable range CS1>95% F8 95.00 0 NM_000132.3/ interpretable range CS1>95% F9 95.00 0 NM_000133.3/ interpretable range CS1>95% FERMT3 95.00 0 NM_031471.5/ interpretable range CS1>95% FGA 95.00 0 NM_021871.2/ interpretable range CS1>95% FGB 95.00 0 NM_005141.4/ interpretable range CS1>95% FGG 95.00 0 NM_000509.4/ interpretable range CS1>95% FLII 95.00 0 NM_002017.4/ interpretable range CS1>95% FLNA 95.00 0 NM_001456.3/ interpretable range CS1>95% FYB1 95.00 0 NM_001465.5/ interpretable range CS1>95% GATA1 95.00 0 NM_002049.3/ interpretable range CS1>95% GDF2 95.00 0 NM_016204.3/ interpretable range CS1>95% GFI1B 95.00 0 NM_004188.5/ interpretable range CS1>95% GGCX 95.00 0 NM_000821.5/ interpretable range CS1>95% GNE 95.00 0 NM_001128227.2/ interpretable range CS1>95% GP1BA 95.00 0 NM_000173.6/ interpretable range CS1>95% GP1BB 95.00 0 NM_000407.4/ interpretable range CS1>95% GP6 95.00 0 NM_001083899.2/ interpretable range CS1>95% GP9 95.00 0 NM_000174.4/ interpretable range CS1>95% HOXA11 95.00 0 NM_005523.5/ interpretable range CS1>95% HPS1 95.00 0 NM_000195.3/ interpretable range CS1>95% HPS3 95.00 0 NM_032383.3/ interpretable range CS1>95% HPS4 95.00 0 NM_022081.5/ interpretable range CS1>95% HPS5 95.00 0 NM_181507.1/ interpretable range CS1>95% HPS6 95.00 0 NM_024747.5/ interpretable range CS1>95% HRG 95.00 0 NM_000412.3/ interpretable range CS1>95% IKZF5 95.00 0 NM_001271840.1/ interpretable range CS1>95% ITGA2B 95.00 0 NM_000419.3/ interpretable range CS1>95% ITGB3 95.00 0 NM_000212.2/ interpretable range CS1>95% KDSR 95.00 0 NM_002035.2/ interpretable range CS1>95% KNG1 95.00 0 NM_001102416.2/ interpretable range CS1>95% LMAN1 95.00 0 NM_005570.3/ interpretable range CS1>95% LYST 95.00 0 NM_000081.3/ interpretable range CS1>95% MCFD2 95.00 0 NM_139279.5/ interpretable range CS1>95% MECOM 95.00 0 NM_001105078.3/ interpretable range CS1>95% MPIG6B 95.00 0 NM_025260.3/ interpretable range CS1>95% MPL 95.00 0 NM_005373.2/ interpretable range CS1>95% MYH9 95.00 0 NM_002473.5/ interpretable range CS1>95% NBEA 95.00 0 NM_015678.4/ interpretable range CS1>95% NBEAL2 95.00 0 NM_015175.2/ interpretable range CS1>95% P2RY12 95.00 0 NM_022788.4/ interpretable range CS1>95% PIGA 95.00 0 NM_002641.3/ interpretable range CS1>95% PLA2G4A 95.00 0 NM_024420.2/ interpretable range CS1>95% PLAU 95.00 0 NM_002658.3/ interpretable range CS1>95% PLG 95.00 0 NM_000301.3/ interpretable range CS1>95% PROC 95.00 0 NM_000312.3/ interpretable range CS1>95% PROS1 95.00 0 NM_000313.3/ interpretable range CS1>95% PTGS1 95.00 0 NM_000962.3/ interpretable range CS1>95% RASGRP2 95.00 0 NM_153819.1/ interpretable range CS1>95% RBM8A 95.00 0 NM_005105.4/ interpretable range CS1>95% RUNX1 95.00 0 NM_001754.4/ interpretable range CS1>95% SERPINC1 95.00 0 NM_000488.3/ interpretable range CS1>95% SERPIND1 95.00 0 NM_000185.3/ interpretable range CS1>95% SERPINE1 95.00 0 NM_000602.4/ interpretable range CS1>95% SERPINF2 95.00 0 NM_000934.3/ interpretable range CS1>95% SLFN14 95.00 0 NM_001129820.1/ interpretable range CS1>95% SMAD4 95.00 0 NM_005359.5/ interpretable range CS1>95% SRC 95.00 0 NM_005417.4/ interpretable range CS1>95% STIM1 95.00 0 NM_003156.3/ interpretable range CS1>95% STXBP2 95.00 0 NM_006949.3/ interpretable range CS1>95% TBXA2R 95.00 0 NM_001060.5/ interpretable range CS1>95% TBXAS1 95.00 0 NM_001061.4/ interpretable range CS1>95% THBD 95.00 0 NM_000361.2/ interpretable range CS1>95% THPO 95.00 0 NM_000460.3/ interpretable range CS1>95% TPM4 95.00 0 NM_001145160.1/ interpretable range CS1>95% TUBB1 95.00 0 NM_030773.3/ interpretable range CS1>95% VIPAS39 95.00 0 NM_022067.3/ interpretable range CS1>95% VKORC1 95.00 0 NM_024006.4/ interpretable range CS1>95% VPS33B 95.00 0 NM_018668.4/ interpretable range CS1>95% VWF 95.00 0 NM_000552.3/ interpretable range CS1>95% WAS 95.00 0 NM_000377.2/ interpretable range CS1>95% RAP1B 95.00 -2 NM_015646.6/ interpretable range CS1>95%