- Analytes
- MUSK
MUSK
Name: |
muscle associated receptor tyrosine kinase
|
Symbol: |
MUSK
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Version of Orphanet: |
2023-06-22 14:14:43
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XREF(s): | |
Created: |
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Changed: |
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- Congenital malformation (gene panel - 1721 genes)
- Congenital malformation (gene panel)
- Myopathy (gene panel)
- Myopathy (gene panel)
- Neuromuscular disorders (548 genes)
- Neuromuscular disorders (gene panel)
- Neuromuscular disorders (gene panel) (= myopathy, metabolic myopathy, ion channel muscle diseases, muscular dystrophy, myotonic dystrophy, rhabdomyolysis, myasthenia)
- Neuromuscular disorders : congenital & distal myopathy, congenital muscle dystrophy / Limb-girdle muscular dystrophy / Rhabdomyolysis / Myopathy (with prominent contractures) / distal artrogryposis (gene panel)
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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 -
Myopathy (332 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AARS1 100.00 1 NM_001605.3 ABHD5 100.00 1 NM_016006.6 ACAD9 100.00 1 NM_014049.5 ACADM 100.00 1 NM_000016.6 ACADVL 100.00 1 NM_000018.4 ACTA1 100.00 1 NM_001100.4 ACVR1 100.00 1 NM_001111067.4 ADSS1 100.00 1 NM_199165.2 AGK 100.00 1 NM_018238.4 AGL 100.00 1 NM_000642.3 AGRN 100.00 1 NM_198576.4 AIFM1 100.00 1 NM_004208.4 ALDOA 100.00 1 NM_184041.4 ALG13 98.00 1 NM_001099922.3 ALG14 100.00 1 NM_144988.4 ALG2 100.00 1 NM_033087.4 ALS2 100.00 1 NM_020919.4 AMPD1 100.00 1 NM_000036.2 ANG 100.00 1 NM_001145.4 ANO5 100.00 1 NM_213599.3 AR 100.00 1 NM_000044.6 ASAH1 100.00 1 NM_177924.5 ASCC1 100.00 1 NM_001198800.3 ATP2A1 100.00 1 NM_004320.6 ATP7A 100.00 1 NM_000052.7 ATXN2 100.00 1 NM_001372574.1 B3GALNT2 100.00 1 NM_152490.5 B4GAT1 100.00 1 NM_006876.3 BAG3 100.00 1 NM_004281.4 BCS1L 100.00 1 NM_001079866.2 BICD2 100.00 1 NM_001003800.2 BIN1 100.00 1 NM_139343.3 BSCL2 100.00 1 NM_001122955.3 BVES 100.00 1 NM_001199563.2 C1QBP 100.00 1 NM_001212.4 C9ORF72 100.00 0 NM_018325.5 CACNA1A 100.00 1 NM_023035.3 CACNA1S 100.00 1 NM_000069.3 CAPN3 100.00 1 NM_000070.3 CASQ1 100.00 1 NM_001231.5 CAV3 100.00 1 NM_033337.3 CAVIN1 100.00 1 NM_012232.6 CCDC78 100.00 1 NM_001031737.3 CFL2 100.00 1 NM_138638.5 CHAT 100.00 1 NM_020549.4 CHCHD10 100.00 1 NM_213720.3 CHKB 100.00 1 NM_005198.5 CHMP2B 100.00 1 NM_014043.4 CHRNA1 100.00 1 NM_000079.4 CHRNB1 100.00 1 NM_000747.3 CHRND 100.00 1 NM_000751.3 CHRNE 100.00 1 NM_000080.4 CHRNG 100.00 1 NM_005199.5 CHST14 100.00 1 NM_130468.4 CLCN1 100.00 1 NM_000083.3 CLN3 100.00 1 NM_001042432.2 CNBP 100.00 1 NM_003418.5 CNTN1 100.00 1 NM_001843.4 COL12A1 100.00 1 NM_004370.6 COL13A1 100.00 1 NM_001130103.2 COL6A1 100.00 1 NM_001848.3 COL6A2 100.00 1 NM_001849.4 COL6A3 100.00 1 NM_004369.4 COLQ 100.00 1 NM_005677.4 COQ9 100.00 1 NM_020312.4 COX10 100.00 1 NM_001303.4 COX15 100.00 1 NM_078470.6 COX20 100.00 1 NM_198076.6 COX6B1 100.00 1 NM_001863.5 COX8A 100.00 1 NM_004074.3 CPT2 100.00 1 NM_000098.3 CRPPA 100.00 1 NM_001101426.4 CRYAB 100.00 1 NM_001289808.2 DAG1 100.00 1 NM_001177634.2 DCTN1 100.00 1 NM_004082.4 DES 100.00 1 NM_001927.4 DGUOK 100.00 1 NM_080916.3 DMD 100.00 1 NM_004006.2 DMPK 100.00 1 NM_004409.5 DNA2 100.00 1 NM_001080449.3 DNAJB2 100.00 1 NM_006736.6 DNAJB6 100.00 1 NM_058246.4 DNM2 100.00 1 NM_001005361.3 DNMT3B 100.00 1 NM_006892.4 DOK7 100.00 1 NM_173660.5 DPAGT1 100.00 1 NM_001382.4 DPM1 99.00 1 NM_001317035.1 DPM2 100.00 1 NM_003863.4 DPM3 100.00 1 NM_153741.2 DYNC1H1 100.00 1 NM_001376.5 DYSF 100.00 1 NM_001130987.2 ECEL1 100.00 1 NM_004826.4 EMD 100.00 1 NM_000117.3 ENO3 100.00 1 NM_053013.4 ERBB3 100.00 1 NM_001982.4 ERBB4 100.00 1 NM_005235.3 ETFA 100.00 1 NM_000126.4 ETFB 100.00 1 NM_001985.3 ETFDH 100.00 1 NM_004453.4 EXOSC3 100.00 1 NM_016042.4 EXOSC8 100.00 1 NM_181503.3 FASTKD2 100.00 1 NM_001136193.2 FBN2 100.00 1 NM_001999.4 FBXL4 100.00 1 NM_001278716.2 FBXO38 100.00 1 NM_205836.3 FDX2 100.00 1 NM_001031734.4 FHL1 100.00 1 NM_001159699.2 FIG4 100.00 1 NM_014845.6 FKRP 100.00 1 NM_024301.5 FKTN 100.00 1 NM_006731.2 FLAD1 100.00 1 NM_025207.5 FLNC 100.00 1 NM_001458.4 FOXRED1 100.00 1 NM_017547.4 FUS 100.00 1 NM_004960.4 FXR1 100.00 1 NM_005087.4 GAA 100.00 1 NM_000152.5 GABRA3 100.00 1 NM_000808.4 GARS1 100.00 1 NM_002047.4 GBE1 100.00 1 NM_000158.4 GFER 100.00 1 NM_005262.3 GFPT1 100.00 1 NM_001244710.2 GLE1 100.00 1 NM_001003722.2 GLI3 100.00 1 NM_000168.6 GMPPB 100.00 1 NM_021971.4 GNE 100.00 1 NM_005476.7 GOLGA2 100.00 1 XM_005251932.1 GYG1 100.00 1 NM_004130.4 GYS1 100.00 1 NM_002103.5 HACD1 100.00 1 NM_014241.4 HADHA 100.00 1 NM_000182.5 HADHB 100.00 1 NM_000183.3 HEXB 100.00 1 NM_000521.4 HNRNPA1 100.00 1 NM_031157.4 HNRNPA2B1 100.00 1 NM_031243.3 HNRNPDL 100.00 1 NM_031372.3 HRAS 100.00 1 NM_005343.4 HSPB3 100.00 1 NM_006308.3 HSPB8 100.00 1 NM_014365.3 HSPG2 100.00 1 NM_005529.7 IBA57 100.00 1 NM_001010867.4 IGHMBP2 100.00 1 NM_002180.3 INPP5K 100.00 1 NM_016532.4 ISCU 100.00 1 NM_213595.3 ITGA7 100.00 1 NM_002206.3 KBTBD13 100.00 1 NM_001101362.2 KCNA1 100.00 1 NM_000217.3 KCNH2 100.00 1 NM_000238.4 KCNJ18 100.00 1 NM_001194958.2 KCNJ2 100.00 1 NM_000891.3 KCNQ1 100.00 1 NM_000218.3 KIF5A 100.00 1 NM_004984.4 KLHL40 100.00 1 NM_152393.4 KLHL41 100.00 1 NM_006063.3 KLHL9 100.00 1 NM_018847.4 KY 100.00 1 NM_178554.6 LAMA2 100.00 1 NM_000426.3 LAMA5 100.00 1 NM_005560.6 LAMB2 100.00 1 NM_002292.4 LAMP2 100.00 1 NM_002294.3 LARGE1 100.00 1 NM_004737.6 LDB3 98.00 1 NM_001171610.2 LDHA 100.00 1 NM_005566.4 LGI4 100.00 1 NM_139284.3 LIMS2 100.00 1 NM_017980.4 LMNA 100.00 1 NM_170707.4 LMOD3 100.00 1 NM_198271.5 LPIN1 100.00 1 NM_001349206.2 LRP4 100.00 1 NM_002334.4 LRPPRC 100.00 1 NM_133259.4 MAP3K20 100.00 1 NM_016653.3 MATR3 100.00 1 NM_018834.6 MCCC1 100.00 1 NM_020166.5 MCCC2 100.00 1 NM_022132.5 MEGF10 100.00 1 NM_001256545.2 MGME1 100.00 1 NM_052865.4 MPV17 100.00 1 NM_002437.5 MSTN 100.00 1 NM_005259.3 MTM1 100.00 1 NM_000252.3 MTMR14 100.00 1 NM_001077525.3 MUSK 100.00 1 NM_005592.4 MYBPC1 100.00 1 NM_002465.4 MYBPC3 100.00 1 NM_000256.3 MYH2 100.00 1 NM_017534.6 MYH3 100.00 1 NM_002470.4 MYH7 100.00 1 NM_000257.4 MYH8 100.00 1 NM_002472.3 MYL1 100.00 1 NM_079420.3 MYMK 100.00 1 NM_001080483.3 MYO18B 100.00 1 NM_032608.7 MYO9A 100.00 1 NM_006901.4 MYOT 100.00 1 NM_006790.3 MYPN 100.00 1 NM_032578.3 NDUFA1 100.00 1 NM_004541.4 NDUFA10 100.00 1 NM_004544.4 NDUFA11 100.00 1 NM_175614.5 NDUFA12 100.00 1 NM_018838.5 NDUFA2 100.00 1 NM_002488.5 NDUFA3 100.00 1 NM_004542.4 NDUFA9 100.00 1 NM_005002.5 NDUFAF1 100.00 1 NM_016013.4 NDUFAF2 100.00 1 NM_174889.5 NDUFAF5 100.00 1 NM_024120.5 NDUFAF6 100.00 1 NM_152416.4 NDUFS1 100.00 1 NM_005006.7 NDUFS2 100.00 1 NM_004550.4 NDUFS3 100.00 1 NM_004551.3 NDUFS4 100.00 1 NM_002495.4 NDUFS7 100.00 1 NM_024407.5 NDUFS8 100.00 1 NM_002496.4 NDUFV1 100.00 1 NM_007103.4 NDUFV2 100.00 1 NM_021074.5 NEB 88.00 1 NM_001271208.2 NEFH 100.00 1 NM_021076.4 NUBPL 100.00 1 NM_025152.3 OPTN 100.00 1 NM_001008212.2 ORAI1 100.00 1 NM_032790.3 PABPN1 100.00 1 NM_004643.3 PET100 100.00 1 NM_001171155.2 PFKM 100.00 1 NM_000289.6 PFN1 100.00 1 NM_005022.4 PGAM2 100.00 1 NM_000290.4 PGK1 100.00 1 NM_000291.4 PGM1 100.00 1 NM_002633.3 PHKA1 100.00 1 NM_002637.4 PHKB 100.00 1 NM_000293.3 PHKG1 100.00 1 NM_001258459.1 PIEZO2 100.00 1 NM_022068.3 PIP5K1C 100.00 1 NM_012398.3 PLEC 100.00 1 NM_201380.4 PLEKHG5 100.00 1 NM_001265592.1 PNPLA2 100.00 1 NM_020376.4 PNPLA8 100.00 1 NM_001256007.3 POGLUT1 100.00 1 NM_152305.3 POLG 100.00 1 NM_001126131.2 POLG2 100.00 1 NM_007215.4 POMGNT1 100.00 1 NM_001243766.1 POMGNT2 100.00 1 NM_032806.6 POMK 100.00 1 NM_032237.5 POMT1 100.00 1 NM_001077365.2 POMT2 100.00 1 NM_013382.5 PREPL 100.00 1 NM_001171613.2 PRKAG2 100.00 1 NM_016203.4 PRPH 100.00 1 NM_006262.4 PUS1 100.00 1 NM_025215.6 PYGM 100.00 1 NM_005609.4 PYROXD1 100.00 1 NM_024854.5 RAPSN 100.00 1 NM_005055.5 RBCK1 100.00 1 NM_031229.4 RBM7 100.00 1 NM_001286045.1 REEP1 100.00 1 NM_001371279.1 RNASEH1 100.00 1 NM_002936.5 RRM2B 100.00 1 NM_015713.5 RXYLT1 100.00 1 NM_014254.3 RYR1 100.00 1 NM_000540.3 SCN4A 100.00 1 NM_000334.4 SCO1 100.00 1 NM_004589.4 SCO2 100.00 1 NM_005138.3 SELENON 90.00 1 NM_020451.3 SETX 100.00 1 NM_015046.7 SGCA 100.00 1 NM_000023.4 SGCB 100.00 1 NM_000232.5 SGCD 100.00 1 XM_017009724.1 SGCG 100.00 1 NM_000231.2 SIGMAR1 100.00 1 NM_005866.4 SIL1 100.00 1 NM_022464.5 SLC18A3 100.00 1 NM_003055.3 SLC22A5 100.00 1 NM_003060.4 SLC25A20 100.00 1 NM_000387.6 SLC25A4 100.00 1 NM_001151.4 SLC52A2 100.00 1 NM_001363118.2 SLC52A3 100.00 1 NM_033409.4 SLC5A7 100.00 1 NM_021815.5 SMCHD1 100.00 1 NM_015295.3 SMN1 6.00 0 NM_000344.3+(exon 1 à7 non couvert) SNAP25 100.00 1 NM_130811.4 SOD1 100.00 1 NM_000454.5 SPEG 100.00 1 NM_005876.5 SPG11 100.00 1 NM_025137.4 SPG7 100.00 1 NM_003119.4 SPTBN4 100.00 1 NM_020971.3 SQSTM1 100.00 1 NM_003900.5 STAC3 100.00 1 NM_145064.3 STIM1 100.00 1 NM_001277961.1 SUCLA2 100.00 1 NM_003850.2 SUCLG1 100.00 1 NM_003849.4 SURF1 100.00 1 NM_003172.4 SYNE1 100.00 1 NM_182961.4 SYNE2 100.00 1 NM_182914.2 SYT2 100.00 1 NM_177402.5 TACO1 100.00 1 NM_016360.4 TANGO2 100.00 1 NM_152906.7 TARDBP 100.00 1 NM_007375.4 TARS2 100.00 1 NM_025150.5 TAFAZZIN 100.00 1 NM_000116.5 TCAP 100.00 1 NM_003673.4 TIA1 100.00 1 NM_022173.4 TK2 100.00 1 NM_004614.5 TMEM43 100.00 1 NM_024334.3 TNNI2 100.00 1 NM_003282.4 TNNT1 100.00 1 NM_003283.6 TNNT3 100.00 1 NM_006757.4 TNPO3 100.00 1 NM_012470.3 TOP3A 100.00 1 NM_004618.5 TOR1AIP1 100.00 1 NM_001267578.1 TPM2 100.00 1 NM_003289.4 TPM3 100.00 1 NM_152263.4 TRAPPC11 100.00 1 NM_021942.6 TRIM32 100.00 1 NM_012210.3 TRIM54 100.00 1 NM_187841.3 TRIM63 100.00 1 NM_032588.3 TRIP4 100.00 1 NM_016213.5 TRMT5 100.00 1 NM_020810.3 TRPV4 100.00 1 NM_021625.5 TSFM 100.00 1 NM_005726.6 TTN 100.00 1 NM_001267550.2 TUBA4A 100.00 1 NM_006000.3 TWNK 100.00 1 NM_021830.5 TYMP 100.00 1 NM_001257989.1 UBA1 100.00 1 NM_003334.4 UBQLN2 100.00 1 NM_013444.3 VAMP1 100.00 1 NM_014231.5 VAPB 100.00 1 NM_004738.5 VARS1 100.00 1 NM_001167734.1 VCP 100.00 1 NM_007126.5 VMA21 100.00 1 NM_001363810.1 VPS33B 100.00 1 NM_018668.5 VRK1 100.00 1 NM_003384.3 WARS1 100.00 1 NM_004184.4 XK 100.00 1 NM_021083.4 YARS2 100.00 1 NM_001040436.3 ZC4H2 100.00 1 NM_018684.4 -
Myopathy (genepanel) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABHD5 99.64 1 ACAD9 99.97 1 ACADM 99.64 1 ACADS 100.00 1 ACADVL 99.94 1 ACTA1 99.99 1 ACTN2 99.96 1 ADSS1 99.99 1 AGK 99.98 1 AGL 99.92 1 AGRN 99.83 1 ALDOA 100.00 1 ALG14 99.97 1 ALG2 99.95 1 ANO5 99.96 1 ANXA11 99.88 1 ASCC1 91.38 1 ATP1A2 99.96 1 ATP2A1 99.97 1 B3GALNT2 94.03 1 B4GAT1 99.95 1 BAG3 100.00 1 BIN1 100.00 1 BVES 99.97 1 CACNA1S 99.92 1 CAP2 99.97 1 CAPN3 99.98 1 CASQ1 99.91 1 CAV3 99.85 1 CAVIN1 99.99 1 CFL2 99.81 1 CHAT 99.77 1 CHD7 99.96 1 CHKB 99.89 1 CHRNA1 99.96 1 CHRNB1 99.99 1 CHRND 100.00 1 CHRNE 99.95 1 CHRNG 99.87 1 CLCN1 99.97 1 CNBP 99.97 1 COL12A1 99.95 1 COL13A1 99.56 1 COL25A1 99.96 1 COL6A1 100.00 1 COL6A2 99.96 1 COL6A3 99.99 1 COLQ 99.97 1 COX6A2 98.51 1 CPT2 99.99 1 CRPPA 99.59 1 CRYAB 99.98 1 DAG1 100.00 1 DCST2 99.92 1 DES 100.00 1 DGUOK 99.76 1 DMD 99.41 1 DMPK 99.98 1 DNAJB6 99.91 1 DNM2 99.96 1 DNMT3B 99.98 1 DOK7 99.73 1 DPAGT1 99.96 1 DPM2 100.00 1 DPM3 100.00 1 DYSF 99.99 1 EMD 97.92 1 ENO3 99.98 1 ETFA 99.84 1 ETFDH 99.76 1 FAM111B 99.99 1 FDX2 99.94 1 FHL1 99.92 1 FKRP 99.99 1 FKTN 99.91 1 FLAD1 100.00 1 FLNC 99.99 1 FXR1 99.81 1 GAA 99.99 1 GBE1 99.84 1 GFER 99.96 1 GFPT1 99.90 1 GGPS1 99.89 1 GMPPB 99.95 1 GNE 99.98 1 GYG1 99.97 1 GYS1 99.98 1 HACD1 99.78 1 HADH 99.97 1 HADHA 99.96 1 HADHB 99.97 1 HNRNPA1 100.00 1 HNRNPA2B1 99.95 1 HNRNPDL 99.92 1 INPP5K 99.99 1 ISCU 99.94 1 ITGA7 99.98 1 ITGA9 99.80 1 JAG2 98.50 1 KBTBD13 100.00 1 KCNJ2 100.00 1 KIF21A 99.80 1 KLHL40 100.00 1 KLHL41 99.96 1 KLHL9 100.00 1 KY 98.80 1 LAMA2 99.97 1 LAMB2 99.99 1 LAMP2 98.98 1 LARGE1 99.99 1 LDB3 98.02 1 LDHA 99.77 1 LIMS2 99.65 1 LMNA 99.98 1 LMOD3 99.96 1 LPIN1 99.97 1 LRP4 99.98 1 MAP3K20 99.92 1 MATR3 99.87 1 MB 99.99 1 MEGF10 99.90 1 MICU1 99.98 1 MLIP 99.94 1 MSTO1 98.87 1 MTM1 99.36 1 MUSK 99.97 1 MYBPC1 99.90 1 MYBPC3 99.98 1 MYH14 99.79 1 MYH2 99.97 1 MYH3 99.96 1 MYH7 100.00 1 MYL1 99.93 1 MYL2 99.98 1 MYMX 100.00 1 MYO18B 99.98 1 MYO9A 99.91 1 MYOD1 99.82 1 MYOT 99.98 1 MYPN 99.97 1 NEB 99.77 1 NPL 99.95 1 OPA1 99.87 1 ORAI1 97.73 1 PABPN1 99.67 1 PAX7 99.96 1 PFKM 99.82 1 PGAM2 100.00 1 PGK1 99.71 1 PGM1 99.89 1 PHKA1 99.57 1 PHKB 99.79 1 PHOX2A 96.75 1 PLEC 99.98 1 PNPLA2 99.99 1 PNPLA8 99.81 1 POGLUT1 99.91 1 POLG 99.98 1 POLG2 99.68 1 POMGNT1 99.98 1 POMGNT2 100.00 1 POMK 99.98 1 POMT1 99.91 1 POMT2 99.93 1 POPDC3 99.93 1 PREPL 99.96 1 PRKAG2 99.92 1 PYGM 99.98 1 PYROXD1 99.83 1 RAPSN 99.99 1 RBCK1 99.99 1 RXYLT1 99.53 1 RYR1 99.92 1 SCN4A 99.77 1 SELENON 95.81 1 SGCA 99.99 1 SGCB 99.62 1 SGCD 99.94 1 SGCG 99.87 1 SIL1 99.99 1 SLC18A3 100.00 1 SLC22A5 99.99 1 SLC25A20 99.90 1 SLC25A4 99.96 1 SLC5A7 99.97 1 SMCHD1 99.82 1 SMPX 99.37 1 SPEG 99.97 1 SQSTM1 100.00 1 STAC3 99.94 1 STIM1 99.97 1 SVIL 99.94 1 SYNE1 99.96 1 SYNE2 99.85 1 SYT2 99.89 1 TCAP 100.00 1 TIA1 99.56 1 TK2 99.99 1 TMEM126B 99.68 1 TMEM43 99.98 1 TNNC2 99.95 1 TNNI2 100.00 1 TNNT1 99.82 1 TNNT3 100.00 1 TNPO3 99.95 1 TNXB 99.95 1 TOP3A 99.95 1 TOR1AIP1 99.84 1 TPI1 99.95 1 TPM2 99.93 1 TPM3 99.95 1 TRAPPC11 99.59 1 TRDN 99.03 1 TRIM32 100.00 1 TRIP4 99.91 1 TRMT5 99.83 1 TTN 99.96 1 TUBB3 100.00 1 TWNK 100.00 1 UNC45B 99.93 1 VAMP1 99.70 1 VCP 99.92 1 VMA21 97.04 1 VWA1 91.35 1 -
Neuromuscular disorders (548 genes) - ULB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AARS1 100.00 0 No comment ABCD1 97.56 0 No comment ABHD12 88.30 0 No comment ABHD5 99.85 0 No comment ACAD9 100.00 0 No comment ACADL 98.57 0 No comment ACADM 99.87 0 No comment ACADS 97.51 0 No comment ACADVL 98.04 0 No comment ACTA1 99.79 0 No comment ACVR1 100.00 0 No comment ADAR 100.00 0 No comment ADSS1 99.98 0 No comment AFG3L2 94.80 0 No comment AGK 100.00 0 No comment AGL 100.00 0 No comment AGRN 96.53 0 No comment AIFM1 99.98 0 No comment AIMP1 99.97 0 No comment ALDH18A1 100.00 0 No comment ALDH3A2 99.94 0 No comment ALDOA 100.00 0 No comment ALG13 99.53 0 No comment ALG14 100.00 0 No comment ALG2 99.83 0 No comment ALS2 100.00 0 No comment AMPD1 100.00 0 No comment AMPD2 99.90 0 No comment ANG 100.00 0 No comment ANO5 100.00 0 No comment ANXA11 99.99 0 No comment AP4B1 100.00 0 No comment AP4E1 99.99 0 No comment AP4M1 100.00 0 No comment AP4S1 100.00 0 No comment AP5Z1 99.25 0 No comment APTX 99.96 0 No comment AR 100.00 0 No comment ARG1 100.00 0 No comment ARHGEF10 99.98 0 No comment ARHGEF28 99.05 0 No comment ARL6IP1 100.00 0 No comment ARSI 99.82 0 No comment ASAH1 100.00 0 No comment ASCC1 91.30 0 No comment ATL1 99.89 0 No comment ATL3 99.93 0 No comment ATM 100.00 0 No comment ATP13A2 98.30 0 No comment ATP1A1 100.00 0 No comment ATP2A1 100.00 0 No comment ATP7A 100.00 0 No comment ATXN2 93.25 0 No comment AUH 99.24 0 No comment B3GALNT2 92.96 0 No comment B4GAT1 99.99 0 No comment B4GALNT1 99.99 0 No comment BAG3 100.00 0 No comment BCS1L 100.00 0 No comment BICD2 100.00 0 No comment BIN1 99.94 0 No comment BSCL2 100.00 0 No comment BVES 100.00 0 No comment TWNK 100.00 0 No comment MTRFR 100.00 0 No comment C19ORF12 100.00 0 No comment C1QBP 99.47 0 No comment C9ORF72 99.96 0 No comment CACNA1A 99.53 0 No comment CACNA1S 100.00 0 No comment CAPN1 99.97 0 No comment CAPN3 99.99 0 No comment CASQ1 100.00 0 No comment CAV3 100.00 0 No comment CCDC78 100.00 0 No comment CCT5 99.92 0 No comment CFL2 100.00 0 No comment CHAT 99.97 0 No comment CHCHD10 99.66 0 No comment CHKB 99.75 0 No comment CHMP2B 100.00 0 No comment CHRNA1 99.99 0 No comment CHRNB1 99.95 0 No comment CHRND 100.00 0 No comment CHRNE 100.00 0 No comment CHRNG 99.87 0 No comment CHST14 99.50 0 No comment CLCN1 100.00 0 No comment CLN3 100.00 0 No comment CLN8 100.00 0 No comment CLTCL1 99.04 0 No comment CNBP 100.00 0 No comment CNTN1 100.00 0 No comment CNTNAP1 100.00 0 No comment COL12A1 100.00 0 No comment COL13A1 99.52 0 No comment COL6A1 99.90 0 No comment COL6A2 99.98 0 No comment COL6A3 100.00 0 No comment COLQ 100.00 0 No comment COQ9 100.00 0 No comment COX10 100.00 0 No comment COX15 99.99 0 No comment COX20 100.00 0 No comment COX6A1 100.00 0 No comment COX6B1 100.00 0 No comment COX8A 100.00 0 No comment CPT1C 100.00 0 No comment CPT2 98.55 0 No comment CRYAB 100.00 0 No comment CSF1R 99.99 0 No comment CTDP1 100.00 0 No comment CYP27A1 99.38 0 No comment CYP2U1 93.20 0 No comment CYP7B1 95.41 0 No comment DAG1 100.00 0 No comment DARS2 100.00 0 No comment DCAF8 100.00 0 No comment DCTN1 100.00 0 No comment DDHD1 99.58 0 No comment DDHD2 100.00 0 No comment DES 100.00 0 No comment DGAT2 100.00 0 No comment DGUOK 100.00 0 No comment DHTKD1 99.54 0 No comment DMD 99.96 0 No comment DMPK 99.91 0 No comment DMXL2 100.00 0 No comment DNAJB2 100.00 0 No comment DNAJB6 91.94 0 No comment DNM2 99.84 0 No comment DNMT1 99.54 0 No comment DOK7 97.44 0 No comment DOLK 100.00 0 No comment DPAGT1 100.00 0 No comment DPM1 100.00 0 No comment DPM2 100.00 0 No comment DPM3 100.00 0 No comment DST 100.00 0 No comment DYNC1H1 99.92 0 No comment DYSF 99.72 0 No comment ECEL1 99.80 0 No comment EGR2 100.00 0 No comment ELOVL4 100.00 0 No comment EMD 98.97 0 No comment ENO3 100.00 0 No comment ENTPD1 100.00 0 No comment ERBB3 100.00 0 No comment ERBB4 100.00 0 No comment ERCC2 98.91 0 No comment ERLIN1 100.00 0 No comment ERLIN2 100.00 0 No comment ETFA 100.00 0 No comment ETFB 100.00 0 No comment ETFDH 100.00 0 No comment EXOSC3 100.00 0 No comment EXOSC8 100.00 0 No comment FA2H 95.71 0 No comment FAM111B 100.00 0 No comment HYCC1 100.00 0 No comment RETREG1 93.72 0 No comment FARS2 100.00 0 No comment FASTKD2 100.00 0 No comment FBLN5 100.00 0 No comment FBN2 100.00 0 No comment FBXL4 100.00 0 No comment FBXO38 100.00 0 No comment FBXO7 99.78 0 No comment FDX2 100.00 0 No comment FGD4 99.98 0 No comment CFH 100.00 0 No comment FIG4 100.00 0 No comment FKRP 100.00 0 No comment FKTN 100.00 0 No comment FLAD1 100.00 0 No comment FLNC 100.00 0 No comment FLRT1 100.00 0 No comment FLVCR1 100.00 0 No comment FOXRED1 100.00 0 No comment FUS 100.00 0 No comment FXN 94.27 0 No comment GAA 100.00 0 No comment GABRA3 99.59 0 No comment GAD1 100.00 0 No comment GALC 98.98 0 No comment GAN 98.52 0 No comment GARS1 97.89 0 No comment GART 99.99 0 No comment GBA1 100.00 0 No comment GBA2 100.00 0 No comment GBE1 100.00 0 No comment GCH1 99.71 0 No comment GDAP1 100.00 0 No comment GFAP 100.00 0 No comment GFER 99.09 0 No comment GFPT1 99.94 0 No comment GGPS1 100.00 0 No comment GJB1 100.00 0 No comment GJB3 100.00 0 No comment GJC2 96.72 0 No comment GLA 100.00 0 No comment GLB1 100.00 0 No comment GLE1 100.00 0 No comment GLI3 100.00 0 No comment GLTP 100.00 0 No comment GMPPB 100.00 0 No comment GNB4 100.00 0 No comment GNE 100.00 0 No comment GOLGA2 95.41 0 No comment GOSR2 100.00 0 No comment GSN 97.80 0 No comment GYG1 94.40 0 No comment GYS1 100.00 0 No comment HADHA 100.00 0 No comment HADHB 100.00 0 No comment HARS1 99.73 0 No comment HEPACAM 99.85 0 No comment HEXA 100.00 0 No comment HEXB 99.19 0 No comment HINT1 100.00 0 No comment HK1 100.00 0 No comment HNRNPA1 97.19 0 No comment HNRNPA2B1 100.00 0 No comment HNRNPDL 99.98 0 No comment HOXD10 100.00 0 No comment HRAS 100.00 0 No comment HSD17B4 100.00 0 No comment HSPB1 100.00 0 No comment HSPB3 100.00 0 No comment HSPB8 100.00 0 No comment HSPD1 95.18 0 No comment HSPG2 99.19 0 No comment IBA57 92.01 0 No comment IFIH1 100.00 0 No comment IFRD1 98.86 0 No comment IGHMBP2 99.38 0 No comment ELP1 100.00 0 No comment INF2 99.92 0 No comment INPP5K 99.31 0 No comment ISCU 98.41 0 No comment CRPPA 95.50 0 No comment ITGA7 100.00 0 No comment KARS1 100.00 0 No comment KBTBD13 99.16 0 No comment KCNA1 100.00 0 No comment KCNE1 100.00 0 No comment KCNE2 100.00 0 No comment KCNE3 100.00 0 No comment KCNH2 98.15 0 No comment KCNJ12 100.00 0 No comment KCNJ2 100.00 0 No comment KCNQ1 100.00 0 No comment WASHC5 100.00 0 No comment KIF1A 98.74 0 No comment KIF1B 99.84 0 No comment KIF1C 100.00 0 No comment KIF21A 98.54 0 No comment KIF5A 100.00 0 No comment KLC4 99.99 0 No comment KLHL40 100.00 0 No comment KLHL41 100.00 0 No comment KLHL9 100.00 0 No comment KY 100.00 0 No comment L1CAM 99.98 0 No comment LAMA2 100.00 0 No comment LAMA5 98.39 0 No comment LAMB2 100.00 0 No comment LAMP2 99.60 0 No comment LARGE1 100.00 0 No comment LDB3 100.00 0 No comment LDHA 99.42 0 No comment LGI4 100.00 0 No comment LIMS2 91.30 0 No comment LITAF 100.00 0 No comment LMNA 99.28 0 No comment LMOD3 100.00 0 No comment LPIN1 99.97 0 No comment CORIN 99.01 0 No comment LRPPRC 98.80 0 No comment LRSAM1 99.33 0 No comment MARS1 100.00 0 No comment MATR3 100.00 0 No comment MB 100.00 0 No comment MED25 100.00 0 No comment MEGF10 99.99 0 No comment MFN2 100.00 0 No comment MLC1 98.57 0 No comment MAP3K20 100.00 0 No comment MARS2 100.00 0 No comment MME 100.00 0 No comment MORC2 100.00 0 No comment MPV17 100.00 0 No comment MPZ 99.80 0 No comment MSTN 100.00 0 No comment MTM1 99.91 0 No comment MTMR14 99.92 0 No comment MTMR2 99.55 0 No comment MTPAP 99.98 0 No comment MUSK 100.00 0 No comment MYBPC1 100.00 0 No comment MYBPC3 100.00 0 No comment MYH7B 99.85 0 No comment MYH2 100.00 0 No comment MYH3 100.00 0 No comment MYH4 100.00 0 No comment MYH7 100.00 0 No comment MYH8 100.00 0 No comment MYL1 100.00 0 No comment MYO18B 99.80 0 No comment MYO9A 99.74 0 No comment MYOT 100.00 0 No comment MYPN 99.97 0 No comment NAGLU 96.69 0 No comment NDRG1 100.00 0 No comment NDUFA1 100.00 0 No comment NDUFA10 96.45 0 No comment NDUFA11 100.00 0 No comment NDUFA12 100.00 0 No comment NDUFA2 100.00 0 No comment NDUFA3 100.00 0 No comment NDUFA9 100.00 0 No comment NDUFAF1 100.00 0 No comment NDUFAF2 100.00 0 No comment NDUFAF5 99.96 0 No comment NDUFAF6 95.61 0 No comment NDUFS1 100.00 0 No comment NDUFS2 100.00 0 No comment NDUFS3 100.00 0 No comment NDUFS4 99.96 0 No comment NDUFS7 93.34 0 No comment NDUFS8 100.00 0 No comment NDUFV1 99.62 0 No comment NDUFV2 100.00 0 No comment NEB 100.00 0 No comment NEFH 81.41 0 No comment NEFL 100.00 0 No comment NEK1 99.98 0 No comment NGF 100.00 0 No comment NIPA1 92.99 0 No comment NT5C2 100.00 0 No comment NTRK1 98.36 0 No comment NUBPL 99.92 0 No comment MED12 99.98 0 No comment OPA3 100.00 0 No comment OPTN 100.00 0 No comment ORAI1 92.14 0 No comment P4HA1 100.00 0 No comment PABPN1 100.00 0 No comment PANK2 100.00 0 No comment PDHA1 92.64 0 No comment PDK3 97.80 0 No comment PDYN 100.00 0 No comment PET100 100.00 0 No comment PEX1 100.00 0 No comment PEX7 95.60 0 No comment PFKM 100.00 0 No comment PFN1 100.00 0 No comment PGAM2 99.97 0 No comment PGAP1 100.00 0 No comment PGK1 99.88 0 No comment PGM1 100.00 0 No comment PHKA1 99.99 0 No comment PHKB 99.97 0 No comment PHOX2A 96.24 0 No comment PHYH 99.81 0 No comment PIEZO2 100.00 0 No comment PIP5K1C 94.98 0 No comment PLA2G6 100.00 0 No comment PLEC 99.26 0 No comment PLEKHG5 100.00 0 No comment PLP1 100.00 0 No comment PMP2 100.00 0 No comment PMP22 100.00 0 No comment PNKP 99.84 0 No comment PNPLA2 98.21 0 No comment PNPLA6 99.95 0 No comment PNPLA8 100.00 0 No comment POGLUT1 100.00 0 No comment POLG 100.00 0 No comment POLG2 100.00 0 No comment POLR3A 100.00 0 No comment POLR3B 100.00 0 No comment POMGNT1 100.00 0 No comment POMGNT2 100.00 0 No comment POMK 100.00 0 No comment POMT1 100.00 0 No comment POMT2 99.53 0 No comment PPP2R2B 100.00 0 No comment PRDM12 81.28 0 No comment PREPL 99.98 0 No comment PRKAG2 95.75 0 No comment PRNP 99.92 0 No comment PRPH 99.62 0 No comment PRPS1 99.91 0 No comment PRUNE1 100.00 0 No comment PRX 99.89 0 No comment PSEN1 100.00 0 No comment HACD1 94.60 0 No comment CAVIN1 100.00 0 No comment PTRH2 99.91 0 No comment PUS1 100.00 0 No comment PYGM 100.00 0 No comment PYROXD1 99.99 0 No comment RAB3GAP2 100.00 0 No comment RAB7A 100.00 0 No comment RAPSN 100.00 0 No comment RBCK1 99.76 0 No comment RBM7 100.00 0 No comment REEP1 100.00 0 No comment REEP2 97.04 0 No comment RNASEH2B 94.58 0 No comment RNASET2 100.00 0 No comment RRM2B 100.00 0 No comment RTN2 99.44 0 No comment RYR1 99.39 0 No comment RYR3 100.00 0 No comment SACS 99.95 0 No comment SBF1 98.38 0 No comment SBF2 99.92 0 No comment SCN10A 100.00 0 No comment SCN11A 99.98 0 No comment SCN4A 100.00 0 No comment SCN5A 100.00 0 No comment SCN9A 99.99 0 No comment SCO1 100.00 0 No comment SCO2 93.85 0 No comment SELENON 84.10 0 No comment SEPTIN9 99.38 0 No comment SETX 100.00 0 No comment SGCA 100.00 0 No comment SGCB 91.50 0 No comment SGCD 100.00 0 No comment SGCE 93.30 0 No comment SGCG 100.00 0 No comment SGPL1 100.00 0 No comment SH3TC2 100.00 0 No comment SIGMAR1 92.51 0 No comment SIL1 99.95 0 No comment SLC12A6 100.00 0 No comment SLC16A1 100.00 0 No comment SLC16A2 99.97 0 No comment SLC18A3 100.00 0 No comment SLC22A5 100.00 0 No comment SLC25A15 100.00 0 No comment SLC25A20 100.00 0 No comment SLC25A4 99.81 0 No comment SLC25A42 99.60 0 No comment SLC25A46 100.00 0 No comment SLC2A1 100.00 0 No comment SLC33A1 100.00 0 No comment SLC52A2 100.00 0 No comment SLC52A3 99.86 0 No comment SLC5A7 100.00 0 No comment SMCHD1 100.00 0 No comment SMN1 100.00 0 No comment SNAP25 100.00 0 No comment SOD1 100.00 0 No comment SOX10 95.36 0 No comment SPAST 99.83 0 No comment SPEG 98.78 0 No comment SPG11 100.00 0 No comment SPART 100.00 0 No comment SPG21 100.00 0 No comment SPG7 95.78 0 No comment SPR 99.98 0 No comment SPTBN4 98.07 0 No comment SPTLC1 99.27 0 No comment SPTLC2 96.43 0 No comment SQSTM1 94.05 0 No comment SRPK3 98.13 0 No comment STAC3 100.00 0 No comment STIM1 100.00 0 No comment SUCLA2 99.86 0 No comment SUCLG1 93.27 0 No comment SUN1 100.00 0 No comment SURF1 100.00 0 No comment SYNE1 100.00 0 No comment SYNE2 100.00 0 No comment SYT2 99.96 0 No comment TACO1 99.66 0 No comment TANGO2 99.94 0 No comment TARDBP 100.00 0 No comment TARS2 100.00 0 No comment WWTR1 97.30 0 No comment TBCE 100.00 0 No comment TBK1 99.99 0 No comment TCAP 100.00 0 No comment TDP1 100.00 0 No comment TECPR2 99.92 0 No comment TFG 99.98 0 No comment TGM6 100.00 0 No comment TH 98.79 0 No comment TIA1 100.00 0 No comment TK2 100.00 0 No comment TMEM43 100.00 0 No comment RXYLT1 100.00 0 No comment TMEM65 90.50 0 No comment MYMK 100.00 0 No comment TNNI2 100.00 0 No comment TNNT1 94.05 0 No comment TNNT3 100.00 0 No comment TNPO3 100.00 0 No comment TOR1A 99.70 0 No comment TOR1AIP1 100.00 0 No comment TPI1 99.90 0 No comment TPM2 100.00 0 No comment TPM3 98.74 0 No comment TRAPPC11 99.97 0 No comment TRIM2 100.00 0 No comment TRIM32 100.00 0 No comment TRIM54 96.63 0 No comment TRIM63 100.00 0 No comment TRIP4 100.00 0 No comment TRMT5 100.00 0 No comment TRPV4 100.00 0 No comment TSFM 86.80 0 No comment TTBK2 100.00 0 No comment TTN 100.00 0 No comment TTR 100.00 0 No comment TUBA4A 100.00 0 No comment TUBB3 99.01 0 No comment TUBB4A 100.00 0 No comment TYMP 100.00 0 No comment UBA1 100.00 0 No comment UBQLN2 99.30 0 No comment UNC13A 99.74 0 No comment USP8 100.00 0 No comment VAMP1 100.00 0 No comment VAPB 99.77 0 No comment VARS2 100.00 0 No comment VCP 97.10 0 No comment VMA21 77.99 0 No comment VPS33B 100.00 0 No comment VPS37A 99.28 0 No comment VRK1 100.00 0 No comment WARS1 100.00 0 No comment WDR45 100.00 0 No comment WDR48 100.00 0 No comment WNK1 100.00 0 No comment XK 99.44 0 No comment YARS1 100.00 0 No comment YARS2 100.00 0 No comment ZC4H2 100.00 0 No comment ZFHX2 100.00 0 No comment ZFR 100.00 0 No comment ZFYVE26 100.00 0 No comment ZFYVE27 100.00 0 No comment -
Neuromuscular disorders (166 genes) - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACADVL 0.00 0 No value for column 2 ACTA1 0.00 0 No value for column 2 AGRN 0.00 0 No value for column 2 ALDOA 0.00 0 No value for column 2 ALG14 0.00 0 No value for column 2 ALG2 99.94 0 No comment ALS2 100.00 0 No comment ANG 100.00 0 No comment ANO5 100.00 0 No comment ASAH1 99.94 0 No comment ATP7A 100.00 0 No comment ATXN2 89.10 0 No comment B3GALNT2 85.88 0 No comment B4GAT1 100.00 0 No comment BAG3 100.00 0 No comment BICD2 100.00 0 No comment BIN1 100.00 0 No comment BSCL2 100.00 0 No comment C9ORF72 100.00 0 No comment CAV3 100.00 0 No comment CFL2 99.75 0 No comment CHAT 100.00 0 No comment CHKB 99.69 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 COL6A1 100.00 0 No comment COL6A2 100.00 0 No comment COL6A3 100.00 0 No comment COLQ 100.00 0 No comment CPT2 98.71 0 No comment CRPPA 95.75 0 No comment CRYAB 100.00 0 No comment DAG1 100.00 0 No comment DAO 100.00 0 No comment DCTN1 100.00 0 No comment DES 100.00 0 No comment DGUOK 100.00 0 No comment DMD 100.00 0 No comment DNAJB2 100.00 0 No comment DNAJB6 99.34 0 No comment DNM2 99.95 0 No comment DOK7 98.77 0 No comment DOLK 100.00 0 No comment DPAGT1 100.00 0 No comment DPM1 100.00 0 No comment DPM2 100.00 0 No comment DPM3 100.00 0 No comment DYNC1H1 100.00 0 No comment DYSF 100.00 0 No comment ECEL1 95.92 0 No comment EMD 99.84 0 No comment ENO3 100.00 0 No comment ETFA 100.00 0 No comment ETFB 100.00 0 No comment ETFDH 100.00 0 No comment EXOSC3 100.00 0 No comment FBLN5 100.00 0 No comment FBXO38 100.00 0 No comment FDX2 100.00 0 No comment CFH 100.00 0 No comment FKRP 98.68 0 No comment FKTN 100.00 0 No comment FLNC 100.00 0 No comment FUS 100.00 0 No comment GAA 100.00 0 No comment GARS1 99.53 0 No comment GFPT1 99.98 0 No comment GLE1 100.00 0 No comment GMPPB 100.00 0 No comment GNE 100.00 0 No comment GRN 100.00 0 No comment HADHA 100.00 0 No comment HADHB 100.00 0 No comment HARS1 100.00 0 No comment HEXB 99.82 0 No comment HNRNPA1 99.61 0 No comment HNRNPA2B1 100.00 0 No comment HSPB1 100.00 0 No comment HSPB3 100.00 0 No comment HSPB8 100.00 0 No comment IGHMBP2 100.00 0 No comment ISCU 99.39 0 No comment KBTBD13 97.91 0 No comment KLHL40 100.00 0 No comment KLHL9 100.00 0 No comment LAMA2 100.00 0 No comment LAMB2 100.00 0 No comment LARGE1 100.00 0 No comment LAS1L 100.00 0 No comment LDB3 100.00 0 No comment LMNA 99.93 0 No comment LPIN1 100.00 0 No comment CORIN 98.90 0 No comment MATR3 100.00 0 No comment MEGF10 100.00 0 No comment MTM1 100.00 0 No comment MUSK 100.00 0 No comment MYBPC3 100.00 0 No comment MYH7B 100.00 0 No comment MYH3 100.00 0 No comment MYH7 100.00 0 No comment MYH8 100.00 0 No comment MYOT 100.00 0 No comment NEB 99.99 0 No comment NEFH 84.73 0 No comment OPTN 100.00 0 No comment PABPN1 91.84 0 No comment PFKM 100.00 0 No comment PFN1 100.00 0 No comment PGAM2 100.00 0 No comment PGK1 100.00 0 No comment PGM1 100.00 0 No comment PHKA1 100.00 0 No comment PHKB 100.00 0 No comment PLEC 99.82 0 No comment PLEKHG5 99.10 0 No comment POLG 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 PREPL 100.00 0 No comment PYGM 100.00 0 No comment QDPR 99.04 0 No comment RAPSN 100.00 0 No comment REEP1 97.37 0 No comment RXYLT1 99.84 0 No comment RYR1 98.38 0 No comment SCN4A 100.00 0 No comment SELENON 84.04 0 No comment SETX 100.00 0 No comment SIGMAR1 96.60 0 No comment SIL1 100.00 0 No comment SLC18A3 100.00 0 No comment SLC52A2 100.00 0 No comment SLC52A3 100.00 0 No comment SLC5A7 100.00 0 No comment SMN1 96.55 0 No comment SNAP25 100.00 0 No comment SOD1 100.00 0 No comment SQSTM1 93.68 0 No comment SYT2 100.00 0 No comment TAF15 100.00 0 No comment TARDBP 100.00 0 No comment TFG 100.00 0 No comment TIA1 100.00 0 No comment TNNI2 100.00 0 No comment TNNT1 98.58 0 No comment TNNT3 100.00 0 No comment TNPO3 100.00 0 No comment TPM2 100.00 0 No comment TPM3 99.55 0 No comment TRPV4 100.00 0 No comment TSEN54 94.23 0 No comment TTN 100.00 0 No comment UBA1 100.00 0 No comment UBQLN2 99.88 0 No comment UNC13A 99.87 0 No comment VAPB 100.00 0 No comment VCP 98.45 0 No comment VEGFA 98.73 0 No comment VRK1 100.00 0 No comment -
Neuromuscular disorders (261 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments NEB 89.15 0 NM_001271208.2 MSTO1 92.48 0 NM_018116.4 SELENON 93.43 0 NM_020451.3 ORAI1 97.41 0 NM_032790.3 TSEN54 97.75 0 NM_207346.3 JAG2 98.39 0 NM_002226.5 SLC25A1 98.61 0 NM_005984.5 PABPN1 99.26 0 NM_004643.4 LETM1 99.31 0 NM_012318.3 RYR1 99.32 0 NM_000540.3 AGRN 99.43 0 NM_198576.4 CACNA1H 99.50 0 NM_021098.3 HSPG2 99.61 0 NM_005529.7 OBSCN 99.64 0 NM_052843.4 CRPPA 99.65 0 NM_001101426.4 B3GALNT2 99.70 0 NM_152490.5 KCNJ18 99.75 0 NM_001194958.2 PLIN4 99.75 0 NM_001367868.2 DOK7 99.76 0 NM_173660.5 LAMA5 99.80 0 NM_005560.6 SLC16A1 99.80 0 NM_003051.4 TK2 99.85 0 NM_004614.5 FKRP 99.87 0 NM_024301.5 ECEL1 99.88 0 NM_004826.4 MYH7 99.88 0 NM_000257.4 SGCB 99.89 0 NM_000232.5 FXR1 99.90 0 NM_005087.4 PNPLA2 99.90 0 NM_020376.4 TTN 99.91 0 NM_133378.4 CHAT 99.91 0 NM_020549.5 RAPSN 99.92 0 NM_005055.5 GFER 99.92 0 NM_005262.3 SPTBN4 99.92 0 NM_020971.3 PGAM2 99.92 0 NM_000290.4 GOLGA2 99.93 0 NM_004486.6 GOSR2 99.94 0 NM_004287.5 ACADM 99.94 0 NM_000016.6 SGCG 99.94 0 NM_000231.3 DPM2 99.94 0 NM_003863.4 MYH14 99.94 0 NM_024729.4 SLC25A4 99.94 0 NM_001151.4 ALG13 99.95 0 NM_001099922.3 HACD1 99.95 0 NM_014241.4 MYL1 99.95 0 NM_079420.3 MCOLN1 99.95 0 NM_020533.3 PREPL 99.95 0 NM_006036.4 SYT2 99.96 0 NM_177402.5 PDHA1 99.96 0 NM_000284.4 POLG 99.96 0 NM_002693.3 HSPB1 99.96 0 NM_001540.5 SMCHD1 99.96 0 NM_015295.3 ISCU 99.96 0 NM_213595.4 ANO5 99.97 0 NM_213599.3 DMD 99.97 0 NM_004006.3 COL6A1 99.97 0 NM_001848.3 DPM1 99.97 0 NM_003859.3 POMT1 99.97 0 NM_007171.4 TRIP4 99.97 0 NM_016213.5 PIEZO2 99.97 0 NM_022068.4 TRDN 99.97 0 NM_006073.4 ETFB 99.98 0 NM_001985.3 LRP4 99.98 0 NM_002334.4 CHD8 99.98 0 NM_001170629.2 SCN4A 99.98 0 NM_000334.4 DNA2 99.98 0 NM_001080449.3 TNNC2 99.98 0 NM_003279.3 DNM2 99.98 0 NM_001005360.3 APOO 99.98 0 NM_024122.5 ETFA 99.98 0 NM_000126.4 TIA1 99.98 0 NM_022173.4 CHRNA1 99.98 0 NM_000079.4 BVES 99.98 0 NM_007073.4 ALG14 99.98 0 NM_144988.4 COL13A1 99.98 0 NM_001130103.2 TMEM43 99.98 0 NM_024334.3 CFL2 99.98 0 NM_021914.8 TNNT3 99.98 0 NM_006757.4 ACVR1 99.98 0 NM_001105.5 ETFDH 99.98 0 NM_004453.4 AMPD1 99.98 0 NM_000036.3 LPIN1 99.98 0 NM_145693.4 PHKA1 99.98 0 NM_002637.4 GNE 99.98 0 NM_001128227.3 CAVIN1 99.98 0 NM_012232.6 CHRND 99.98 0 NM_000751.3 CACNA1S 99.98 0 NM_000069.3 DCST2 99.98 0 NM_144622.3 KCNJ5 99.98 0 NM_000890.5 BAG3 99.98 0 NM_004281.4 CHRNE 99.99 0 NM_000080.4 GMPPB 99.99 0 NM_013334.4 COL12A1 99.99 0 NM_004370.6 CHKB 99.99 0 NM_005198.5 TNNT1 99.99 0 NM_003283.6 HNRNPA1 99.99 0 NM_031157.4 VCP 99.99 0 NM_007126.5 MTM1 99.99 0 NM_000252.3 CASQ1 99.99 0 NM_001231.5 LMNA 99.99 0 NM_170707.4 MYF6 99.99 0 NM_002469.3 VMA21 99.99 0 NM_001017980.4 DNMT3B 99.99 0 NM_006892.4 CLCN1 99.99 0 NM_000083.3 SYNE1 99.99 0 NM_033071.5 GYG1 99.99 0 NM_004130.4 MTMR14 99.99 0 NM_022485.5 MYBPC3 99.99 0 NM_000256.3 EPG5 99.99 0 NM_020964.3 GYS1 99.99 0 NM_002103.5 SBDS 99.99 0 NM_016038.4 MEGF10 99.99 0 NM_032446.3 EXOSC3 99.99 0 NM_016042.4 EMD 99.99 0 NM_000117.3 CACNA1A 99.99 0 NM_001127221.2 HNRNPDL 99.99 0 NM_031372.4 SPEG 99.99 0 NM_005876.5 DPAGT1 99.99 0 NM_001382.4 CAV3 99.99 0 NM_033337.3 ATP1A2 99.99 0 NM_000702.4 PRKAG2 99.99 0 NM_016203.4 TPM2 99.99 0 NM_003289.4 PLEC 99.99 0 NM_000445.5 TPM3 99.99 0 NM_152263.4 BIN1 99.99 0 NM_139343.3 CHRNB1 99.99 0 NM_000747.3 TAFAZZIN 99.99 0 NM_000116.5 CHRNG 99.99 0 NM_005199.5 KLHL41 99.99 0 NM_006063.3 DYSF 99.99 0 NM_003494.4 RYR3 99.99 0 NM_001036.6 HNRNPA2B1 99.99 0 NM_031243.3 PHKB 99.99 0 NM_000293.3 POMT2 99.99 0 NM_013382.7 OPA1 99.99 0 NM_015560.3 COL6A3 99.99 0 NM_004369.4 POGLUT1 99.99 0 NM_152305.3 SQSTM1 99.99 0 NM_003900.5 CAPN3 100.00 0 NM_000070.3 POLG2 100.00 0 NM_007215.4 TNPO3 100.00 0 NM_012470.4 INPP5K 100.00 0 NM_016532.4 GBE1 100.00 0 NM_000158.4 DAG1 100.00 0 NM_004393.6 MYO9A 100.00 0 NM_006901.4 SYNE2 100.00 0 NM_182914.3 LARGE1 100.00 0 NM_004737.7 GFPT1 100.00 0 NM_001244710.2 ATP2A1 100.00 0 NM_173201.5 SLC22A5 100.00 0 NM_003060.4 ITGA7 100.00 0 NM_002206.3 LDB3 100.00 0 NM_001080116.1 PTPN11 100.00 0 NM_002834.5 MYH2 100.00 0 NM_017534.6 TOP3A 100.00 0 NM_004618.5 HADH 100.00 0 NM_005327.7 SLC25A20 100.00 0 NM_000387.6 B4GAT1 100.00 0 NM_006876.3 KBTBD13 100.00 0 NM_001101362.3 TRIM63 100.00 0 NM_032588.4 MYH3 100.00 0 NM_002470.4 KCNA1 100.00 0 NM_000217.3 MYO18B 100.00 0 NM_032608.7 MYPN 100.00 0 NM_032578.4 MAP3K20 100.00 0 NM_016653.3 LAMP2 100.00 0 NM_002294.3 ACADS 100.00 0 NM_000017.4 PGK1 100.00 0 NM_000291.4 ENO3 100.00 0 NM_053013.4 LMOD3 100.00 0 NM_198271.5 AGL 100.00 0 NM_000642.3 RBCK1 100.00 0 NM_031229.4 TOR1AIP1 100.00 0 NM_001267578.2 CPT2 100.00 0 NM_000098.3 MYBPC1 100.00 0 NM_002465.4 LAMA2 100.00 0 NM_000426.4 LRIF1 100.00 0 NM_018372.4 PNPLA8 100.00 0 NM_015723.5 HADHA 100.00 0 NM_000182.5 PYGM 100.00 0 NM_005609.4 LAMB2 100.00 0 NM_002292.4 MYH8 100.00 0 NM_002472.3 LIG3 100.00 0 NM_013975.4 COL6A2 100.00 0 NM_001849.4 TRAPPC11 100.00 0 NM_021942.6 FLNC 100.00 0 NM_001458.5 ABHD5 100.00 0 NM_016006.6 ACAD9 100.00 0 NM_014049.5 ACADL 100.00 0 NM_001608.4 ACADVL 100.00 0 NM_000018.4 ACTA1 100.00 0 NM_001100.4 ACTN2 100.00 0 NM_001103.4 ADSS1 100.00 0 NM_199165.2 ALDOA 100.00 0 NM_184041.5 ALG2 100.00 0 NM_033087.4 CCDC78 100.00 0 NM_001031737.3 CNTN1 100.00 0 NM_001843.4 COLQ 100.00 0 NM_005677.4 COX16 100.00 0 NM_016468.7 CRYAB 100.00 0 NM_001885.3 DES 100.00 0 NM_001927.4 DMPK 100.00 0 NM_001081563.2 DNAJB4 100.00 0 NM_007034.5 DNAJB6 100.00 0 NM_058246.4 DOLK 100.00 0 NM_014908.4 DPM3 100.00 0 NM_153741.2 FHL1 100.00 0 NM_001449.5 FKBP14 100.00 0 NM_017946.4 FKTN 100.00 0 NM_001079802.2 FLAD1 100.00 0 NM_025207.5 GAA 100.00 0 NM_000152.5 GGPS1 100.00 0 NM_001037277.1 HADHB 100.00 0 NM_000183.3 HINT1 100.00 0 NM_005340.7 HRAS 100.00 0 NM_005343.4 HSPB8 100.00 0 NM_014365.3 KCNE3 100.00 0 NM_005472.5 KCNJ2 100.00 0 NM_000891.3 KLHL40 100.00 0 NM_152393.4 KLHL9 100.00 0 NM_018847.4 KY 100.00 0 NM_178554.6 LDHA 100.00 0 NM_005566.4 LIMS2 100.00 0 NM_001136037.4 MATR3 100.00 0 NM_199189.3 MB 100.00 0 NM_005368.3 MICU1 100.00 0 NM_006077.4 MSTN 100.00 0 NM_005259.3 MUSK 100.00 0 NM_005592.4 MYL2 100.00 0 NM_000432.4 MYMK 100.00 0 NM_001080483.3 MYOD1 100.00 0 NM_002478.5 MYOT 100.00 0 NM_006790.3 NSUN3 100.00 0 NM_022072.5 P4HA1 100.00 0 NM_001017962.3 PAX7 100.00 0 NM_002584.3 PFKM 100.00 0 NM_000289.6 PGM1 100.00 0 NM_002633.3 POMGNT1 100.00 0 NM_017739.4 POMGNT2 100.00 0 NM_032806.6 POMK 100.00 0 NM_032237.5 POPDC3 100.00 0 NM_022361.5 PYROXD1 100.00 0 NM_024854.5 RRM2B 100.00 0 NM_015713.5 RXYLT1 100.00 0 NM_014254.3 SGCA 100.00 0 NM_000023.4 SGCD 100.00 0 NM_000337.6 SIL1 100.00 0 NM_022464.5 SLC18A3 100.00 0 NM_003055.3 SLC5A7 100.00 0 NM_021815.5 SMPX 100.00 0 NM_014332.3 SNAP25 100.00 0 NM_003081.5 STAC3 100.00 0 NM_145064.3 STIM1 100.00 0 NM_003156.4 SUCLA2 100.00 0 NM_003850.3 TANGO2 100.00 0 NM_152906.7 TCAP 100.00 0 NM_003673.4 TEFM 100.00 0 NM_024683.4 TMEM126B 100.00 0 NM_018480.7 TNNI2 100.00 0 NM_003282.4 TRIM32 100.00 0 NM_012210.4 UNC45B 100.00 0 NM_173167.3 VAMP1 100.00 0 NM_014231.5 -
Neuromuscular disorders - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABHD5 99.98 1 ACAD9 100.00 1 ACADL 99.11 1 ACADM 96.14 1 ACADS 99.99 1 ACADVL 100.00 1 ACTA1 99.99 1 ACTN2 99.99 1 ACVR1 99.94 1 ADCY6 99.98 1 ADGRG6 99.91 1 ADSS1 99.99 1 AGL 97.67 1 AGRN 99.99 1 ALDOA 100.00 1 ALG13 99.44 1 ALG14 99.34 1 ALG2 100.00 1 AMPD1 98.94 1 ANO5 99.85 1 APOO 99.69 1 ASAH1 99.90 1 ASCC1 90.99 1 ASPH 99.92 1 ATP2A1 99.83 1 B3GALNT2 92.79 1 B4GAT1 100.00 1 BAG3 100.00 1 BET1 99.38 1 BIN1 99.98 1 BSCL2 99.99 1 BVES 99.83 1 CACNA1H 100.00 1 CACNA1S 99.96 1 CAPN3 99.99 1 CASQ1 99.62 1 CAV3 100.00 1 CAVIN1 100.00 1 CCDC78 100.00 1 CFL2 99.67 1 CHAT 99.74 1 CHCHD10 100.00 1 CHKB 100.00 1 CHRNA1 99.82 1 CHRNB1 99.99 1 CHRND 100.00 1 CHRNE 100.00 1 CHRNG 100.00 1 CLCN1 100.00 1 CLN3 99.92 1 CLPP 99.99 1 CNTN1 99.35 1 COL12A1 99.85 1 COL13A1 99.95 1 COL4A1 99.99 1 COL6A1 99.99 1 COL6A2 100.00 1 COL6A3 99.99 1 COL9A3 99.99 1 COLQ 99.98 1 CPT2 99.65 1 CRPPA 99.98 1 CRYAB 100.00 1 DAG1 100.00 1 DES 100.00 1 DGUOK 99.93 1 DHX16 99.98 1 DMD 99.76 1 DMPK 99.93 1 DNAJB6 99.97 1 DNM2 99.99 1 DNMT3B 99.98 1 DOK7 99.97 1 DOLK 100.00 1 DPAGT1 100.00 1 DPM1 90.68 1 DPM2 100.00 1 DPM3 99.98 1 DYSF 99.95 1 ECEL1 100.00 1 EMD 99.93 1 ENO3 100.00 1 EPG5 99.95 1 ETFA 99.88 1 ETFB 100.00 1 ETFDH 99.82 1 FAM111B 99.98 1 FDX2 99.99 1 CFH 99.97 1 FKBP14 99.97 1 FKRP 100.00 1 FKTN 99.94 1 FLAD1 99.98 1 FLNC 99.99 1 FXR1 99.82 1 GAA 100.00 1 GBE1 99.73 1 GFER 100.00 1 GFPT1 99.79 1 GGPS1 99.95 1 GLDN 99.98 1 GLE1 99.99 1 GMPPB 100.00 1 GNE 99.99 1 GOLGA2 100.00 1 GOSR2 98.92 1 GYG1 99.85 1 GYS1 99.98 1 HACD1 99.98 1 HADHA 99.98 1 HADHB 99.82 1 HEXB 99.91 1 HNRNPA1 62.92 1 HNRNPA2B1 99.90 1 HNRNPDL 99.98 1 HRAS 100.00 1 HSPB1 99.97 1 HSPB3 99.97 1 HSPB8 100.00 1 HSPG2 99.87 1 HTRA2 99.99 1 INPP5K 99.94 1 ISCU 99.74 1 ITGA7 99.87 1 KBTBD13 100.00 1 KLHL40 99.96 1 KLHL41 99.96 1 KLHL9 100.00 1 KY 99.97 1 LAMA2 99.95 1 LAMA5 99.99 1 LAMB2 99.99 1 LAMP2 98.95 1 LARGE1 100.00 1 LARS2 99.96 1 LAS1L 99.97 1 LDB3 99.91 1 LDHA 99.94 1 LGI4 99.98 1 LIMS2 99.97 1 LMNA 99.96 1 LMOD3 99.91 1 LOXL4 99.92 1 LPIN1 99.96 1 LRIF1 99.82 1 CORIN 99.89 1 MAP3K20 99.84 1 MB 99.99 1 MCOLN1 100.00 1 MEGF10 99.91 1 MET 99.97 1 MICU1 99.56 1 MPDU1 99.97 1 MRPS25 99.97 1 MSTN 99.96 1 MSTO1 76.34 1 MTM1 99.76 1 MTMR14 99.99 1 MUSK 99.93 1 MYBPC1 99.77 1 MYBPC3 99.98 1 MYF5 99.99 1 MYH7B 99.98 1 MYH2 99.98 1 MYH3 99.99 1 MYH7 99.99 1 MYH8 100.00 1 MYL1 99.75 1 MYL2 99.99 1 MYMK 99.88 1 MYO18B 99.98 1 MYO9A 99.93 1 MYOT 99.93 1 MYPN 99.88 1 NEB 87.33 1 NEFL 100.00 1 ORAI1 99.63 1 PABPN1 99.99 1 PAX7 99.83 1 PEX6 99.99 1 PFKM 99.57 1 PGAM2 100.00 1 PGK1 99.93 1 PGM1 96.77 1 PHKA1 99.84 1 PHKB 99.69 1 PIEZO2 98.45 1 PLEC 100.00 1 PNPLA2 100.00 1 PNPLA8 99.92 1 POGLUT1 99.99 1 POLG 100.00 1 POLG2 99.51 1 POMGNT1 99.69 1 POMGNT2 100.00 1 POMK 100.00 1 POMT1 99.96 1 POMT2 99.98 1 POPDC3 99.96 1 PREPL 99.63 1 PRKAG2 99.96 1 PTRH2 99.99 1 PUS1 100.00 1 PYGM 99.96 1 PYROXD1 99.77 1 RAPSN 99.97 1 RBCK1 100.00 1 RRM2B 99.97 1 RXYLT1 99.48 1 RYR1 99.97 1 RYR3 99.98 1 SCN4A 99.98 1 SELENON 93.61 1 SGCA 100.00 1 SGCB 99.95 1 SGCD 100.00 1 SGCG 99.99 1 SIL1 99.95 1 SLC16A1 99.26 1 SLC18A3 99.99 1 SLC22A5 99.99 1 SLC25A1 99.93 1 SLC25A20 100.00 1 SLC25A4 100.00 1 SLC25A42 99.99 1 SLC5A7 99.57 1 SMCHD1 99.83 1 SMPX 99.80 1 SNAP25 99.89 1 SPEG 99.99 1 SPTBN4 99.91 1 SQSTM1 100.00 1 STAC3 99.91 1 STIM1 99.99 1 SUCLA2 99.96 1 SVIL 99.98 1 SYNE1 99.95 1 SYNE2 99.95 1 SYT2 99.93 1 TARDBP 100.00 1 TCAP 100.00 1 TFAM 99.24 1 TIA1 99.72 1 TIMM22 100.00 1 TK2 99.96 1 TMEM43 99.96 1 TMEM65 99.93 1 TNNC2 99.99 1 TNNI2 99.99 1 TNNT1 99.82 1 TNNT3 100.00 1 TNPO3 99.96 1 TNXB 90.86 1 TOR1AIP1 98.45 1 TPM2 100.00 1 TPM3 83.21 1 TRAPPC11 99.93 1 TRIM32 100.00 1 TRIM54 89.88 1 TRIP4 99.97 1 TSEN54 100.00 1 TSFM 100.00 1 TTN 99.15 1 TYMP 99.87 1 UNC45B 100.00 1 VAMP1 100.00 1 VCP 99.99 1 VMA21 99.90 1 VPS33B 99.95 1 YARS2 99.93 1 ZBTB42 100.00 1 ZC4H2 99.98 1