WNK4

WNK4 WNK lysine deficient protein kinase 4

Annotation transcript: NM_032387.5

1610 unique variant annotations were identified in 592 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
17-40932719-G-A c.3G>A p.M1? Missense 1/19 - 1
17-40932728-C-T c.12C>T p.S4= Synonymous 1/19 - 1
17-40932730-C-T c.14C>T p.P5L Missense 1/19 - 1
17-40932732-G-A c.16G>A p.A6T Missense 1/19 - 4
17-40932735-A-T c.19A>T p.T7S Missense 1/19 - 1
17-40932735-CA-C c.19del p.T7Rfs*64 Frameshift 1/19 - 1
17-40932736-CG-TC c.20_21delinsTC p.T7I Missense 1/19 - 1
17-40932738-G-C c.22G>C p.E8Q Missense 1/19 - 3
17-40932741-A-T c.25A>T p.T9S Missense 1/19 - 1
17-40932742-C-G c.26C>G p.T9S Missense 1/19 - 1
17-40932742-C-T c.26C>T p.T9I Missense 1/19 - 2
17-40932748-T-C c.32T>C p.V11A Missense 1/19 - 1
17-40932749-C-T c.33C>T p.V11= Synonymous 1/19 - 1
17-40932750-C-T c.34C>T p.L12F Missense 1/19 - 1
17-40932751-T-C c.35T>C p.L12P Missense 1/19 - 1
17-40932753-A-G c.37A>G p.M13V Missense 1/19 - 2
17-40932753-ATG-TTT c.37_39delinsTTT p.M13F Missense 1/19 - 1
17-40932754-T-G c.38T>G p.M13R Missense 1/19 - 1
17-40932756-T-G c.40T>G p.S14A Missense 1/19 - 1
17-40932758-C-A c.42C>A p.S14= Synonymous 1/19 - 1
17-40932758-C-G c.42C>G p.S14= Synonymous 1/19 - 1
17-40932758-C-T c.42C>T p.S14= Synonymous 1/19 - 1
17-40932763-C-T c.47C>T p.T16I Missense 1/19 - 1
17-40932768-G-C c.52G>C p.A18P Missense 1/19 - 1
17-40932768-GC-TT c.52_53delinsTT p.A18F Missense 1/19 - 1
17-40932768-G-T c.52G>T p.A18S Missense 1/19 - 1
17-40932769-CC-AG c.53_54delinsAG p.A18E Missense 1/19 - 1
17-40932769-C-T c.53C>T p.A18V Missense 1/19 - 2
17-40932773-C-T c.57C>T p.D19= Synonymous 1/19 - 2
17-40932775-T-G c.59T>G p.L20R Missense 1/19 - 1
17-40932778-C-T c.62C>T p.A21V Missense 1/19 - 1
17-40932779-C-A c.63C>A p.A21= Synonymous 1/19 - 1
17-40932779-C-G c.63C>G p.A21= Synonymous 1/19 - 1
17-40932779-C-T c.63C>T p.A21= Synonymous 1/19 - 1
17-40932780-C-G c.64C>G p.L22V Missense 1/19 - 1
17-40932783-C-T c.67C>T p.R23W Missense 1/19 - 1
17-40932784-G-A c.68G>A p.R23Q Missense 1/19 - 4
17-40932787-C-T c.71C>T p.P24L Missense 1/19 - 1
17-40932790-C-A c.74C>A p.P25Q Missense 1/19 - 1
17-40932792-C-T c.76C>T p.P26S Missense 1/19 - 1
17-40932796-C-T c.80C>T p.P27L Missense 1/19 - 2
17-40932798-C-G c.82C>G p.L28V Missense 1/19 - 1
17-40932803-C-T c.87C>T p.G29= Synonymous 1/19 - 1
17-40932804-A-G c.88A>G p.T30A Missense 1/19 - 1
17-40932805-C-A c.89C>A p.T30N Missense 1/19 - 1
17-40932805-C-T c.89C>T p.T30I Missense 1/19 - 2
17-40932807-G-A c.91G>A p.A31T Missense 1/19 - 2
17-40932808-C-A c.92C>A p.A31E Missense 1/19 - 4
17-40932810-GG-CC c.94_95inv p.G32P Missense 1/19 - 1
17-40932814-A-T c.98A>T p.Q33L Missense 1/19 - 2
17-40932819-C-A c.103C>A p.R35S Missense 1/19 - 1
17-40932820-G-A c.104G>A p.R35H Missense 1/19 - 1
17-40932822-C-T c.106C>T p.L36F Missense 1/19 - 1
17-40932826-G-T c.110G>T p.G37V Missense 1/19 - 1
17-40932828-C-A c.112C>A p.P38T Missense 1/19 - 1
17-40932828-C-G c.112C>G p.P38A Missense 1/19 - 2
17-40932828-C-T c.112C>T p.P38S Missense 1/19 - 1
17-40932829-C-G c.113C>G p.P38R Missense 1/19 - 1
17-40932834-C-T c.118C>T p.P40S Missense 1/19 - 1
17-40932837-C-A c.121C>A p.R41S Missense 1/19 - 3
17-40932837-C-G c.121C>G p.R41G Missense 1/19 - 2
17-40932841-G-A c.125G>A p.R42Q Missense 1/19 - 1
17-40932841-G-T c.125G>T p.R42L Missense 1/19 - 1
17-40932846-C-T c.130C>T p.R44C Missense 1/19 - 1
17-40932849-CGC-TGG c.133_135delinsTGG p.R45W Missense 1/19 - 1
17-40932852-T-G c.136T>G p.F46V Missense 1/19 - 1
17-40932855-T-G c.139T>G p.S47A Missense 1/19 - 2
17-40932856-C-G c.140C>G p.S47C Missense 1/19 - 1
17-40932856-C-T c.140C>T p.S47F Missense 1/19 - 1
17-40932858-G-A c.142G>A p.G48R Missense 1/19 - 1
17-40932858-G-C c.142G>C p.G48R Missense 1/19 - 1
17-40932861-A-T c.145A>T p.K49* Nonsense 1/19 - 1
17-40932865-C-A c.149C>A p.A50D Missense 1/19 - 1
17-40932871-C-T c.155C>T p.P52L Missense 1/19 - 1
17-40932873-C-T c.157C>T p.R53W Missense 1/19 - 1
17-40932874-G-T c.158G>T p.R53L Missense 1/19 - 1
17-40932876-C-A c.160C>A p.P54T Missense 1/19 - 1
17-40932877-C-A c.161C>A p.P54Q Missense 1/19 - 2
17-40932879-C-T c.163C>T p.R55C Missense 1/19 - 3
17-40932880-G-A c.164G>A p.R55H Missense 1/19 - 1
17-40932888-C-G c.172C>G p.R58G Missense 1/19 - 1
17-40932888-CGT-ATG c.172_174delinsATG p.R58M Missense 1/19 - 1
17-40932888-C-T c.172C>T p.R58C Missense 1/19 - 1
17-40932889-G-T c.173G>T p.R58L Missense 1/19 - 1
17-40932890-T-A c.174T>A p.R58= Synonymous 1/19 - 3
17-40932890-T-C c.174T>C p.R58= Synonymous 1/19 - 3
17-40932890-T-G c.174T>G p.R58= Synonymous 1/19 - 3
17-40932891-C-G c.175C>G p.L59V Missense 1/19 - 1
17-40932892-T-A c.176T>A p.L59H Missense 1/19 - 1
17-40932897-C-T c.181C>T p.R61C Missense 1/19 - 1
17-40932898-G-A c.182G>A p.R61H Missense 1/19 - 2
17-40932898-GC-AA c.182_183delinsAA p.R61Q Missense 1/19 - 1
17-40932900-C-A c.184C>A p.R62S Missense 1/19 - 1
17-40932901-G-A c.185G>A p.R62H Missense 1/19 - 2
17-40932904-G-T c.188G>T p.S63I Missense 1/19 - 1
17-40932906-T-G c.190T>G p.S64A Missense 1/19 - 1
17-40932908-A-C c.192A>C p.S64= Synonymous 1/19 - 1
17-40932908-A-G c.192A>G p.S64= Synonymous 1/19 - 1
17-40932908-A-T c.192A>T p.S64= Synonymous 1/19 - 1
17-40932909-G-A c.193G>A p.V65I Missense 1/19 - 1
17-40932921-C-A c.205C>A p.L69M Missense 1/19 - 1
17-40932924-C-G c.208C>G p.L70V Missense 1/19 - 1
17-40932927-AG-GA c.211_212delinsGA p.S71D Missense 1/19 - 1
17-40932927-AG-GC c.211_212delinsGC p.S71A Missense 1/19 - 2
17-40932927-AG-TT c.211_212delinsTT p.S71F Missense 1/19 - 1
17-40932941-GC-G c.227del p.P76Qfs*41 Frameshift 1/19 - 1
17-40932946-CC-AG c.230_231delinsAG p.A77E Missense 1/19 - 1
17-40932946-C-T c.230C>T p.A77V Missense 1/19 - 1
17-40932949-C-T c.233C>T p.S78L Missense 1/19 - 2
17-40932951-C-T c.235C>T p.P79S Missense 1/19 - 2
17-40932954-G-A c.238G>A p.A80T Missense 1/19 - 1
17-40932955-C-A c.239C>A p.A80D Missense 1/19 - 2
17-40932958-C-T c.242C>T p.P81L Missense 1/19 - 1
17-40932959-G-GT c.243_244insT p.D82* Nonsense 1/19 - 2
17-40932960-G-A c.244G>A p.D82N Missense 1/19 - 1
17-40932960-G-GA c.245dup p.D82Efs*20 Frameshift 1/19 - 1
17-40932962-C-A c.246C>A p.D82E Missense 1/19 - 1
17-40932962-C-T c.246C>T p.D82= Synonymous 1/19 - 3
17-40932964-CC-AA c.248_249delinsAA p.P83Q Missense 1/19 - 1
17-40932965-C-T c.249C>T p.P83= Synonymous 1/19 - 3
17-40932967-C-T c.251C>T p.P84L Missense 1/19 - 1
17-40932961-A-AC c.252dup p.D85Rfs*17 Frameshift 1/19 - 1
17-40932961-AC-A c.252del p.D85Ifs*32 Frameshift 1/19 - 3
17-40932968-C-T c.252C>T p.P84= Synonymous 1/19 - 1
17-40932970-A-C c.254A>C p.D85A Missense 1/19 - 1
17-40932973-C-T c.257C>T p.P86L Missense 1/19 - 1
17-40932975-C-T c.259C>T p.P87S Missense 1/19 - 1
17-40932976-C-T c.260C>T p.P87L Missense 1/19 - 2
17-40932979-A-G c.263A>G p.D88G Missense 1/19 - 1
17-40932984-G-A c.268G>A p.A90T Missense 1/19 - 1
17-40932984-G-T c.268G>T p.A90S Missense 1/19 - 2
17-40932986-T-A c.270T>A p.A90= Synonymous 1/19 - 1
17-40932986-T-C c.270T>C p.A90= Synonymous 1/19 - 1
17-40932986-T-G c.270T>G p.A90= Synonymous 1/19 - 1
17-40932988-G-A c.272G>A p.G91D Missense 1/19 - 3
17-40932992-T-A c.276T>A p.P92= Synonymous 1/19 - 1
17-40932992-T-C c.276T>C p.P92= Synonymous 1/19 - 1
17-40932992-T-G c.276T>G p.P92= Synonymous 1/19 - 1
17-40932996-C-G c.280C>G p.P94A Missense 1/19 - 1
17-40932996-C-T c.280C>T p.P94S Missense 1/19 - 3
17-40932997-C-T c.281C>T p.P94L Missense 1/19 - 2
17-40932994-GC-G c.282del p.A95Rfs*22 Frameshift 1/19 - 1
17-40932997-CCG-C c.284_285del p.A95Efs*6 Frameshift 1/19 - 1
17-40933000-C-G c.284C>G p.A95G Missense 1/19 - 1
17-40933001-G-A c.285G>A p.A95= Synonymous 1/19 - 1
17-40933006-G-A c.290G>A p.S97N Missense 1/19 - 1
17-40933008-C-A c.292C>A p.P98T Missense 1/19 - 1
17-40933017-A-G c.301A>G p.S101G Missense 1/19 - 4
17-40933021-C-A c.305C>A p.S102Y Missense 1/19 - 2
17-40933024-A-G c.308A>G p.K103R Missense 1/19 - 1
17-40933029-C-A c.313C>A p.P105T Missense 1/19 - 1
17-40933030-C-A c.314C>A p.P105H Missense 1/19 - 1
17-40933031-C-T c.315C>T p.P105= Synonymous 1/19 - 2
17-40933033-C-T c.317C>T p.P106L Missense 1/19 - 1
17-40933028-A-AC c.318dup p.E107Rfs*38 Frameshift 1/19 - 1
17-40933035-G-C c.319G>C p.E107Q Missense 1/19 - 1
17-40933036-A-T c.320A>T p.E107V Missense 1/19 - 1
17-40933037-G-T c.321G>T p.E107D Missense 1/19 - 1
17-40933038-G-A c.322G>A p.G108S Missense 1/19 - 1
17-40933039-G-A c.323G>A p.G108D Missense 1/19 - 1
17-40933040-C-T c.324C>T p.G108= Synonymous 1/19 - 1
17-40933043-G-A c.327G>A p.T109= Synonymous 1/19 - 2
17-40933043-G-C c.327G>C p.T109= Synonymous 1/19 - 1
17-40933043-G-T c.327G>T p.T109= Synonymous 1/19 - 1
17-40933052-G-C c.336G>C p.E112D Missense 1/19 - 1
17-40933052-G-T c.336G>T p.E112D Missense 1/19 - 1
17-40933056-G-A c.340G>A p.A114T Missense 1/19 - 1
17-40933060-C-T c.344C>T p.P115L Missense 1/19 - 3
17-40933060-CT-AA c.344_345delinsAA p.P115Q Missense 1/19 - 1
17-40933061-T-A c.345T>A p.P115= Synonymous 1/19 - 1
17-40933061-T-C c.345T>C p.P115= Synonymous 1/19 - 2
17-40933061-T-G c.345T>G p.P115= Synonymous 1/19 - 1
17-40933063-TG-AC c.347_348delinsAC p.V116D Missense 1/19 - 1
17-40933067-G-A c.351G>A p.K117= Synonymous 1/19 - 1
17-40933074-G-C c.358G>C p.E120Q Missense 1/19 - 1
17-40933081-C-T c.365C>T p.S122F Missense 1/19 - 1
17-40933082-C-A c.366C>A p.S122= Synonymous 1/19 - 1
17-40933082-C-G c.366C>G p.S122= Synonymous 1/19 - 1
17-40933082-C-T c.366C>T p.S122= Synonymous 1/19 - 1
17-40933086-C-T c.370C>T p.R124C Missense 1/19 - 2
17-40933085-GCGT-G c.371_373del p.R124del InFrameDeletion 1/19 - 1
17-40933087-GT-AA c.371_372delinsAA p.R124Q Missense 1/19 - 1
17-40933089-CC-AT c.373_374delinsAT p.P125I Missense 1/19 - 1
17-40933090-CC-AA c.374_375delinsAA p.P125Q Missense 1/19 - 1
17-40933090-C-G c.374C>G p.P125R Missense 1/19 - 2
17-40933091-C-A c.375C>A p.P125= Synonymous 1/19 - 2
17-40933091-C-G c.375C>G p.P125= Synonymous 1/19 - 2
17-40933091-C-T c.375C>T p.P125= Synonymous 1/19 - 2
17-40933092-G-A c.376G>A p.E126K Missense 1/19 - 2
17-40933097-C-G c.381C>G p.L127= Synonymous 1/19 - 1
17-40933099-C-G c.383C>G p.P128R Missense 1/19 - 1
17-40933099-C-T c.383C>T p.P128L Missense 1/19 - 3
17-40933101-G-C c.385G>C p.D129H Missense 1/19 - 1
17-40933102-A-T c.386A>T p.D129V Missense 1/19 - 1
17-40933105-C-T c.389C>T p.S130F Missense 1/19 - 1
17-40933110-G-A c.394G>A p.V132M Missense 1/19 - 1
17-40933114-G-A c.398G>A p.G133D Missense 1/19 - 2
17-40933115-C-A c.399C>A p.G133= Synonymous 1/19 - 1
17-40933115-C-G c.399C>G p.G133= Synonymous 1/19 - 1
17-40933115-C-T c.399C>T p.G133= Synonymous 1/19 - 1
17-40933116-C-T c.400C>T p.P134S Missense 1/19 - 1
17-40933120-G-C c.404G>C p.G135A Missense 1/19 - 1
17-40933123-C-G c.407C>G p.S136C Missense 1/19 - 1
17-40933125-AG-CA c.409_410delinsCA p.R137Q Missense 1/19 - 1
17-40933126-G-A c.410G>A p.R137K Missense 1/19 - 1
17-40933126-G-T c.410G>T p.R137M Missense 1/19 - 1
17-40933130-G-A c.414G>A p.E138= Synonymous 1/19 - 1
17-40933137-AG-CC c.421_422delinsCC p.R141P Missense 1/19 - 1
17-40933137-AGG-TGT c.421_423delinsTGT p.R141C Missense 1/19 - 1
17-40933138-G-A c.422G>A p.R141K Missense 1/19 - 1
17-40933140-G-A c.424G>A p.V142I Missense 1/19 - 1
17-40933143-C-T c.427C>T p.P143S Missense 1/19 - 1
17-40933144-C-G c.428C>G p.P143R Missense 1/19 - 1
17-40933146-G-A c.430G>A p.E144K Missense 1/19 - 4
17-40933149-G-A c.433G>A p.A145T Missense 1/19 - 1
17-40933156-C-A c.440C>A p.A147D Missense 1/19 - 1
17-40933156-C-T c.440C>T p.A147V Missense 1/19 - 2
17-40933161-G-A c.445G>A p.E149K Missense 1/19 - 1
17-40933167-C-T c.451C>T p.R151W Missense 1/19 - 1
17-40933170-C-A c.454C>A p.R152= Synonymous 1/19 - 1
17-40933170-C-T c.454C>T p.R152W Missense 1/19 - 1
17-40933172-G-A c.456G>A p.R152= Synonymous 1/19 - 1
17-40933172-G-C c.456G>C p.R152= Synonymous 1/19 - 1
17-40933172-G-T c.456G>T p.R152= Synonymous 1/19 - 1
17-40933174-A-G c.458A>G p.E153G Missense 1/19 - 2
17-40933179-G-A c.463G>A p.E155K Missense 1/19 - 2
17-40933184-A-G c.468A>G p.E156= Synonymous 1/19 - 1
17-40933187-G-C c.471G>C p.K157N Missense 1/19 - 1
17-40933187-G-T c.471G>T p.K157N Missense 1/19 - 1
17-40933191-G-T c.475G>T p.D159Y Missense 1/19 - 1
17-40933192-A-G c.476A>G p.D159G Missense 1/19 - 2
17-40933193-C-A c.477C>A p.D159E Missense 1/19 - 1
17-40933193-C-G c.477C>G p.D159E Missense 1/19 - 1
17-40933193-C-T c.477C>T p.D159= Synonymous 1/19 - 3
17-40933194-A-G c.478A>G p.M160V Missense 1/19 - 3
17-40933197-G-C c.481G>C p.E161Q Missense 1/19 - 1
17-40933203-C-T c.487C>T p.Q163* Nonsense 1/19 - 1
17-40933206-G-A c.490G>A p.A164T Missense 1/19 - 2
17-40933212-G-T c.496G>T p.A166S Missense 1/19 - 2
17-40933213-C-T c.497C>T p.A166V Missense 1/19 - 1
17-40933215-A-G c.499A>G p.T167A Missense 1/19 - 4
17-40933216-C-A c.500C>A p.T167K Missense 1/19 - 1
17-40933216-CG-TC c.500_501delinsTC p.T167I Missense 1/19 - 1
17-40933217-G-T c.501G>T p.T167= Synonymous 1/19 - 1
17-40933221-C-A c.505C>A p.P169T Missense 1/19 - 1
17-40933222-C-T c.506C>T p.P169L Missense 1/19 - 2
17-40933223-C-A c.507C>A p.P169= Synonymous 1/19 - 1
17-40933223-C-G c.507C>G p.P169= Synonymous 1/19 - 1
17-40933223-C-T c.507C>T p.P169= Synonymous 1/19 - 1
17-40933224-G-A c.508G>A p.D170N Missense 1/19 - 2
17-40933229-C-T c.513C>T p.G171= Synonymous 1/19 - 1
17-40933230-CGA-TGT c.514_516delinsTGT p.R172C Missense 1/19 - 2
17-40933231-G-A c.515G>A p.R172Q Missense 1/19 - 1
17-40933231-GA-AT c.515_516delinsAT p.R172H Missense 1/19 - 2
17-40933240-A-G c.524A>G p.K175R Missense 1/19 - 1
17-40933242-T-C c.526T>C p.F176L Missense 1/19 - 1
17-40933249-T-C c.533T>C p.I178T Missense 1/19 - 1
17-40933258-G-A c.542G>A p.G181E Missense 1/19 - 2
17-40933258-G-C c.542G>C p.G181A Missense 1/19 - 1
17-40933260-C-T c.544C>T p.R182C Missense 1/19 - 2
17-40933261-G-A c.545G>A p.R182H Missense 1/19 - 1
17-40933261-GT-AA c.545_546delinsAA p.R182Q Missense 1/19 - 1
17-40933264-G-A c.548G>A p.G183D Missense 1/19 - 1
17-40933268-C-T c.552C>T p.S184= Synonymous 1/19 - 3
17-40933271-C-T c.555C>T p.F185= Synonymous 1/19 - 1
17-40933272-AA-GC c.556_557delinsGC p.K186A Missense 1/19 - 2
17-40933272-AAG-GAC c.556_558delinsGAC p.K186D Missense 1/19 - 1
17-40933273-A-T c.557A>T p.K186M Missense 1/19 - 2
17-40933276-CG-TC c.560_561delinsTC p.T187I Missense 1/19 - 1
17-40933276-C-T c.560C>T p.T187M Missense 1/19 - 1
17-40933277-G-A c.561G>A p.T187= Synonymous 1/19 - 1
17-40933277-G-C c.561G>C p.T187= Synonymous 1/19 - 1
17-40933277-G-T c.561G>T p.T187= Synonymous 1/19 - 1
17-40933278-G-A c.562G>A p.V188M Missense 1/19 - 3
17-40933279-T-C c.563T>C p.V188A Missense 1/19 - 1
17-40933285-G-A c.569G>A p.R190Q Missense 1/19 - 2
17-40933287-G-A c.571G>A p.G191R Missense 1/19 - 4
17-40933294-A-G c.578A>G p.D193G Missense 1/19 - 1
17-40933296-A-G c.580A>G p.T194A Missense 1/19 - 1
17-40933297-C-T c.581C>T p.T194I Missense 1/19 - 1
17-40933298-C-A c.582C>A p.T194= Synonymous 1/19 - 1
17-40933298-C-G c.582C>G p.T194= Synonymous 1/19 - 1
17-40933298-C-T c.582C>T p.T194= Synonymous 1/19 - 1
17-40933299-G-T c.583G>T p.D195Y Missense 1/19 - 1
17-40933313-G-C c.597G>C p.E199D Missense 1/19 - 2
17-40933313-G-T c.597G>T p.E199D Missense 1/19 - 3
17-40933314-G-A c.598G>A p.V200M Missense 1/19 - 1
17-40933320-T-A c.604T>A p.W202R Missense 1/19 - 1
17-40933320-T-C c.604T>C p.W202R Missense 1/19 - 1
17-40934779-C-T c.622C>T p.R208W Missense 2/19 - 4
17-40934785-CTG-TTT c.628_630delinsTTT p.L210F Missense 2/19 - 1
17-40934786-T-TGGGGGCGGGGGGGGGGGGG c.630_631insGGGGCGGGGGGGGGGGGGG p.S211Gfs*8 Frameshift 2/19 - 1
17-40934792-G-C c.635G>C p.R212T Missense 2/19 - 2
17-40934794-G-A c.637G>A p.A213T Missense 2/19 - 1
17-40934795-C-T c.638C>T p.A213V Missense 2/19 - 1
17-40934797-G-A c.640G>A p.E214K Missense 2/19 - 1
17-40934800-C-A c.643C>A p.R215= Synonymous 2/19 - 1
17-40934800-C-T c.643C>T p.R215W Missense 2/19 - 3
17-40934802-G-A c.645G>A p.R215= Synonymous 2/19 - 1
17-40934802-G-C c.645G>C p.R215= Synonymous 2/19 - 1
17-40934802-G-T c.645G>T p.R215= Synonymous 2/19 - 1
17-40934801-G-A c.644G>A p.R215Q Missense 2/19 - 1
17-40934801-G-C c.644G>C p.R215P Missense 2/19 - 1
17-40934806-C-T c.649C>T p.R217C Missense 2/19 - 1
17-40934807-G-A c.650G>A p.R217H Missense 2/19 - 1
17-40934809-T-G c.652T>G p.F218V Missense 2/19 - 1
17-40934810-T-G c.653T>G p.F218C Missense 2/19 - 1
17-40934811-C-T c.654C>T p.F218= Synonymous 2/19 - 2
17-40934812-TC-GA c.655_656inv p.S219E Missense 2/19 - 1
17-40934812-T-G c.655T>G p.S219A Missense 2/19 - 1
17-40934813-C-G c.656C>G p.S219* Nonsense 2/19 - 1
17-40934816-A-G c.659A>G p.E220G Missense 2/19 - 1
17-40934814-AGAG-A c.662_664del p.E221del InFrameDeletion 2/19 - 1
17-40934819-A-G c.662A>G p.E221G Missense 2/19 - 1
17-40934820-G-A c.663G>A p.E221= Synonymous 2/19 - 1
17-40934824-G-A c.667G>A p.E223K Missense 2/19 - 1
17-40934826-G-A c.669G>A p.E223= Synonymous 2/19 - 1
17-40934827-A-G c.670A>G p.M224V Missense 2/19 - 2
17-40934830-C-G c.673C>G p.L225V Missense 2/19 - 1
17-40934832-C-A c.675C>A p.L225= Synonymous 2/19 - 1
17-40934832-C-G c.675C>G p.L225= Synonymous 2/19 - 1
17-40934832-C-T c.675C>T p.L225= Synonymous 2/19 - 1
17-40934836-G-A c.679G>A p.G227R Missense 2/19 - 1
17-40934836-G-C c.679G>C p.G227R Missense 2/19 - 1
17-40934839-C-G c.682C>G p.L228V Missense 2/19 - 1
17-40934842-C-G c.685C>G p.Q229E Missense 2/19 - 1
17-40934843-A-C c.686A>C p.Q229P Missense 2/19 - 1
17-40934847-C-T c.690C>T p.H230= Synonymous 2/19 - 2
17-40934848-C-G c.691C>G p.P231A Missense 2/19 - 1
17-40934850-CA-C c.695del p.N232Tfs*13 Frameshift 2/19 - 1
17-40934854-A-G c.697A>G p.I233V Missense 2/19 - 1
17-40934856-C-T c.699C>T p.I233= Synonymous 2/19 - 1
17-40934857-G-A c.700G>A p.V234I Missense 2/19 - 3
17-40934860-C-T c.703C>T p.R235C Missense 2/19 - 4
17-40934861-G-A c.704G>A p.R235H Missense 2/19 - 1
17-40934865-C-T c.708C>T p.F236= Synonymous 2/19 - 1
17-40934873-C-G c.716C>G p.S239W Missense 2/19 - 1
17-40934873-C-T c.716C>T p.S239L Missense 2/19 - 2
17-40934874-G-A c.717G>A p.S239= Synonymous 2/19 - 1
17-40934874-G-C c.717G>C p.S239= Synonymous 2/19 - 1
17-40934874-G-T c.717G>T p.S239= Synonymous 2/19 - 1
17-40934877-G-A c.720G>A p.W240* Nonsense 2/19 - 4
17-40934879-A-G c.722A>G p.K241R Missense 2/19 - 1
17-40934882-C-G c.725C>G p.S242W Missense 2/19 - 2
17-40934883-G-A c.726G>A p.S242= Synonymous 2/19 - 1
17-40934888-T-C c.731T>C p.L244P Missense 2/19 - 1
17-40934887-C-T c.730C>T p.L244= Synonymous 2/19 - 2
17-40934889-G-A c.732G>A p.L244= Synonymous 2/19 - 2
17-40934889-G-C c.732G>C p.L244= Synonymous 2/19 - 2
17-40934889-G-T c.732G>T p.L244= Synonymous 2/19 - 2
17-40934890-AGG-TGT c.733_735delinsTGT p.R245C Missense 2/19 - 1
17-40934890-A-T c.733A>T p.R245W Missense 2/19 - 1
17-40934891-G-A c.734G>A p.R245K Missense 2/19 - 6
17-40934905-A-T c.748A>T p.I250F Missense 2/19 - 1
17-40934908-G-A c.751G>A p.V251M Missense 2/19 - 4
17-40934908-G-T c.751G>T p.V251L Missense 2/19 - 1
17-40934920-G-A c.763G>A p.E255K Missense 2/19 - 2
17-40934930-C-G c.773C>G p.T258S Missense 2/19 - 1
17-40934930-C-T c.773C>T p.T258I Missense 2/19 - 1
17-40934933-C-T c.776C>T p.S259L Missense 2/19 - 1
17-40934934-G-A c.777G>A p.S259= Synonymous 2/19 - 1
17-40934936-G-A c.779G>A p.G260D Missense 2/19 - 1
17-40934938-AC-GG c.781_782delinsGG p.T261G Missense 2/19 - 1
17-40934938-CA-C c.781del p.T261Rfs*6 Frameshift 2/19 - 1
17-40934940-G-A c.783G>A p.T261= Synonymous 2/19 - 3
17-40934940-G-C c.783G>C p.T261= Synonymous 2/19 - 1
17-40934940-G-T c.783G>T p.T261= Synonymous 2/19 - 1
17-40934945-A-G c.788A>G p.K263R Missense 2/19 - 4
17-40934946-G-A c.789G>A p.K263= Synonymous 2/19 - 1
17-40934956-C-G c.791+8C>G - IntronicSNV - 2/18 1
17-40934956-C-T c.791+8C>T - IntronicSNV - 2/18 1
17-40934985-C-G c.791+37C>G - IntronicSNV - 2/18 1
17-40935035-T-C c.791+87T>C - IntronicSNV - 2/18 1
17-40935959-C-T c.796C>T p.L266= Synonymous 3/19 - 2
17-40935965-C-T c.802C>T p.R268W Missense 3/19 - 1
17-40935966-G-A c.803G>A p.R268Q Missense 3/19 - 2
17-40935971-C-T c.808C>T p.R270W Missense 3/19 - 1
17-40935972-G-A c.809G>A p.R270Q Missense 3/19 - 4
17-40935973-G-T c.810G>T p.R270= Synonymous 3/19 - 1
17-40935981-A-G c.818A>G p.K273R Missense 3/19 - 1
17-40935984-C-T c.821C>T p.P274L Missense 3/19 - 1
17-40935985-G-A c.822G>A p.P274= Synonymous 3/19 - 1
17-40935986-C-A c.823C>A p.R275= Synonymous 3/19 - 2
17-40935988-G-A c.825G>A p.R275= Synonymous 3/19 - 2
17-40935988-G-C c.825G>C p.R275= Synonymous 3/19 - 2
17-40935988-G-T c.825G>T p.R275= Synonymous 3/19 - 2
17-40935987-G-C c.824G>C p.R275P Missense 3/19 - 1
17-40935998-C-T c.835C>T p.R279C Missense 3/19 - 1
17-40936000-C-A c.837C>A p.R279= Synonymous 3/19 - 1
17-40936000-C-G c.837C>G p.R279= Synonymous 3/19 - 1
17-40936000-C-T c.837C>T p.R279= Synonymous 3/19 - 1
17-40936001-T-C c.838T>C p.W280R Missense 3/19 - 1
17-40936004-A-G c.841A>G p.S281G Missense 3/19 - 1
17-40936007-CGC-TGG c.844_846delinsTGG p.R282W Missense 3/19 - 1
17-40936008-G-A c.845G>A p.R282H Missense 3/19 - 2
17-40936008-GC-AA c.845_846delinsAA p.R282Q Missense 3/19 - 1
17-40936009-C-A c.846C>A p.R282= Synonymous 3/19 - 1
17-40936009-C-G c.846C>G p.R282= Synonymous 3/19 - 1
17-40936009-C-T c.846C>T p.R282= Synonymous 3/19 - 1
17-40936008-G-GC c.847dup p.Q283Pfs*72 Frameshift 3/19 - 1
17-40936015-C-A c.852C>A p.I284= Synonymous 3/19 - 1
17-40936015-C-T c.852C>T p.I284= Synonymous 3/19 - 2
17-40936016-C-T c.853C>T p.L285= Synonymous 3/19 - 1
17-40936018-G-A c.855G>A p.L285= Synonymous 3/19 - 1
17-40936018-G-C c.855G>C p.L285= Synonymous 3/19 - 1
17-40936018-G-T c.855G>T p.L285= Synonymous 3/19 - 1
17-40936019-CG-TA c.856_857delinsTA p.R286* Nonsense 3/19 - 1
17-40936020-G-A c.857G>A p.R286Q Missense 3/19 - 1
17-40936021-G-A c.858G>A p.R286= Synonymous 3/19 - 3
17-40936022-G-A c.859G>A p.G287R Missense 3/19 - 1
17-40936022-G-C c.859G>C p.G287R Missense 3/19 - 1
17-40936034-C-G c.871C>G p.L291V Missense 3/19 - 1
17-40936037-C-A c.874C>A p.H292N Missense 3/19 - 1
17-40936038-A-C c.875A>C p.H292P Missense 3/19 - 1
17-40936042-C-T c.879C>T p.S293= Synonymous 3/19 - 1
17-40936043-C-A c.880C>A p.R294= Synonymous 3/19 - 2
17-40936043-C-T c.880C>T p.R294W Missense 3/19 - 2
17-40936047-T-C c.884T>C p.V295A Missense 3/19 - 1
17-40936047-T-G c.884T>G p.V295G Missense 3/19 - 3
17-40936049-C-T c.886C>T p.P296S Missense 3/19 - 4
17-40936050-C-A c.887C>A p.P296H Missense 3/19 - 1
17-40936050-C-T c.887C>T p.P296L Missense 3/19 - 2
17-40936053-C-A c.890C>A p.P297H Missense 3/19 - 1
17-40936056-T-C c.893T>C p.I298T Missense 3/19 - 1
17-40936057-C-A c.894C>A p.I298= Synonymous 3/19 - 2
17-40936057-C-T c.894C>T p.I298= Synonymous 3/19 - 2
17-40936058-C-A c.895C>A p.L299M Missense 3/19 - 1
17-40936061-C-T c.898C>T p.H300Y Missense 3/19 - 2
17-40936064-C-G c.901C>G p.R301G Missense 3/19 - 2
17-40936064-C-T c.901C>T p.R301W Missense 3/19 - 1
17-40936065-G-A c.902G>A p.R301Q Missense 3/19 - 1
17-40936065-G-T c.902G>T p.R301L Missense 3/19 - 1
17-40936067-G-A c.904G>A p.D302N Missense 3/19 - 1
17-40936072-C-A c.909C>A p.L303= Synonymous 3/19 - 2
17-40936072-C-G c.909C>G p.L303= Synonymous 3/19 - 2
17-40936072-C-T c.909C>T p.L303= Synonymous 3/19 - 3
17-40936076-T-C c.913T>C p.C305R Missense 3/19 - 1
17-40936078-C-T c.915C>T p.C305= Synonymous 3/19 - 3
17-40936086-T-G c.923T>G p.V308G Missense 3/19 - 1
17-40936087-C-A c.924C>A p.V308= Synonymous 3/19 - 2
17-40936087-C-G c.924C>G p.V308= Synonymous 3/19 - 2
17-40936087-C-T c.924C>T p.V308= Synonymous 3/19 - 2
17-40936095-CG-TC c.932_933delinsTC p.T311I Missense 3/19 - 1
17-40936096-G-A c.933G>A p.T311= Synonymous 3/19 - 2
17-40936096-G-C c.933G>C p.T311= Synonymous 3/19 - 1
17-40936096-G-T c.933G>T p.T311= Synonymous 3/19 - 1
17-40936102-T-C c.939T>C p.P313= Synonymous 3/19 - 1
17-40936104-C-T c.941C>T p.T314I Missense 3/19 - 1
17-40936109-TC-AA c.946_947delinsAA p.S316N Missense 3/19 - 1
17-40936116-A-G c.953A>G p.K318R Missense 3/19 - 1
17-40936117-A-C c.954A>C p.K318N Missense 3/19 - 1
17-40936117-A-T c.954A>T p.K318N Missense 3/19 - 1
17-40936118-A-T c.955A>T p.I319F Missense 3/19 - 1
17-40936120-C-A c.957C>A p.I319= Synonymous 3/19 - 1
17-40936120-C-T c.957C>T p.I319= Synonymous 3/19 - 3
17-40936121-G-A c.958G>A p.G320R Missense 3/19 - 1
17-40936121-G-C c.958G>C p.G320R Missense 3/19 - 1
17-40936124-GAC-AAG c.961_963delinsAAG p.D321K Missense 3/19 - 2
17-40936125-A-C c.962A>C p.D321A Missense 3/19 - 6
17-40936127-C-A c.964C>A p.L322M Missense 3/19 - 1
17-40936127-CTG-TTT c.964_966delinsTTT p.L322F Missense 3/19 - 8
17-40936133-CTG-TTT c.970_972delinsTTT p.L324F Missense 3/19 - 1
17-40936136-G-A c.973G>A p.A325T Missense 3/19 - 2
17-40936140-C-T c.977C>T p.T326M Missense 3/19 - 1
17-40936141-G-A c.978G>A p.T326= Synonymous 3/19 - 1
17-40936142-GCTC-G c.979_981del p.L327del InFrameDeletion 3/19 - 1
17-40936148-CGC-TGG c.985_987delinsTGG p.R329W Missense 3/19 - 1
17-40936148-C-T c.985C>T p.R329C Missense 3/19 - 3
17-40936149-GC-AA c.986_987delinsAA p.R329Q Missense 3/19 - 1
17-40936150-C-T c.987C>T p.R329= Synonymous 3/19 - 2
17-40936151-G-A c.988G>A p.A330T Missense 3/19 - 1
17-40936155-C-T c.992C>T p.S331F Missense 3/19 - 2
17-40936156-C-A c.993C>A p.S331= Synonymous 3/19 - 1
17-40936156-C-G c.993C>G p.S331= Synonymous 3/19 - 1
17-40936156-C-T c.993C>T p.S331= Synonymous 3/19 - 1
17-40936160-G-T c.997G>T p.A333S Missense 3/19 - 1
17-40936166-AG-GC c.1003_1004delinsGC p.S335A Missense 3/19 - 3
17-40936168-T-C c.1005T>C p.S335= Synonymous 3/19 - 1
17-40936174-C-T c.1011C>T p.I337= Synonymous 3/19 - 1
17-40936440-G-A c.1013G>A p.G338E Missense 4/19 - 1
17-40936440-G-C c.1013G>C p.G338A Missense 4/19 - 1
17-40936440-GGGACCCCGGAATTCA-G c.1013_1027del p.G338_M343delinsV SpliceAcceptorDeletion 4/19 - 1
17-40936443-C-T c.1016C>T p.T339I Missense 4/19 - 1
17-40936445-C-T c.1018C>T p.P340S Missense 4/19 - 2
17-40936446-C-T c.1019C>T p.P340L Missense 4/19 - 2
17-40936447-G-A c.1020G>A p.P340= Synonymous 4/19 - 3
17-40936451-T-A c.1024T>A p.F342I Missense 4/19 - 1
17-40936456-G-A c.1029G>A p.M343I Missense 4/19 - 1
17-40936456-G-C c.1029G>C p.M343I Missense 4/19 - 1
17-40936456-G-T c.1029G>T p.M343I Missense 4/19 - 1
17-40936459-C-A c.1032C>A p.A344= Synonymous 4/19 - 1
17-40936459-C-G c.1032C>G p.A344= Synonymous 4/19 - 1
17-40936459-C-T c.1032C>T p.A344= Synonymous 4/19 - 1
17-40936461-C-A c.1034C>A p.P345H Missense 4/19 - 2
17-40936461-C-T c.1034C>T p.P345L Missense 4/19 - 1
17-40936463-G-A c.1036G>A p.E346K Missense 4/19 - 2
17-40936468-G-A c.1041G>A p.M347I Missense 4/19 - 1
17-40936468-G-C c.1041G>C p.M347I Missense 4/19 - 1
17-40936468-G-T c.1041G>T p.M347I Missense 4/19 - 1
17-40936469-T-A c.1042T>A p.Y348N Missense 4/19 - 1
17-40936482-A-C c.1055A>C p.Y352S Missense 4/19 - 1
17-40936484-G-A c.1057G>A p.D353N Missense 4/19 - 3
17-40936491-C-T c.1064C>T p.A355V Missense 4/19 - 1
17-40936492-C-T c.1065C>T p.A355= Synonymous 4/19 - 2
17-40936493-G-A c.1066G>A p.V356M Missense 4/19 - 1
17-40936497-A-T c.1070A>T p.D357V Missense 4/19 - 1
17-40936498-C-T c.1071C>T p.D357= Synonymous 4/19 - 3
17-40936499-G-A c.1072G>A p.V358M Missense 4/19 - 1
17-40936500-T-C c.1073T>C p.V358A Missense 4/19 - 1
17-40936503-A-C c.1076A>C p.Y359S Missense 4/19 - 1
17-40936504-C-T c.1077C>T p.Y359= Synonymous 4/19 - 1
17-40936506-C-T c.1079C>T p.A360V Missense 4/19 - 3
17-40936507-G-A c.1080G>A p.A360= Synonymous 4/19 - 1
17-40936510-C-T c.1083C>T p.F361= Synonymous 4/19 - 2
17-40936511-G-A c.1084G>A p.G362S Missense 4/19 - 2
17-40936512-G-T c.1085G>T p.G362V Missense 4/19 - 2
17-40936518-G-A c.1091G>A p.C364Y Missense 4/19 - 3
17-40936521-T-C c.1094T>C p.M365T Missense 4/19 - 1
17-40936522-G-A c.1095G>A p.M365I Missense 4/19 - 1
17-40936522-G-C c.1095G>C p.M365I Missense 4/19 - 1
17-40936522-G-T c.1095G>T p.M365I Missense 4/19 - 1
17-40936524-T-G c.1097T>G p.L366R Missense 4/19 - 1
17-40936529-A-G c.1102A>G p.M368V Missense 4/19 - 1
17-40936533-C-T c.1106C>T p.A369V Missense 4/19 - 1
17-40936535-A-C c.1108A>C p.T370P Missense 4/19 - 1
17-40936539-C-T c.1112C>T p.S371F Missense 4/19 - 1
17-40936541-G-A c.1114G>A p.E372K Missense 4/19 - 2
17-40936541-G-C c.1114G>C p.E372Q Missense 4/19 - 4
17-40936544-TA-GC c.1117_1118delinsGC p.Y373A Missense 4/19 - 1
17-40936545-AC-A c.1121del p.P374Rfs*27 Frameshift 4/19 - 1
17-40936548-C-T c.1121C>T p.P374L Missense 4/19 - 1
17-40936549-G-A c.1122G>A p.P374= Synonymous 4/19 - 2
17-40936549-G-C c.1122G>C p.P374= Synonymous 4/19 - 2
17-40936549-G-T c.1122G>T p.P374= Synonymous 4/19 - 2
17-40936554-C-T c.1127C>T p.S376F Missense 4/19 - 5
17-40936555-C-A c.1128C>A p.S376= Synonymous 4/19 - 1
17-40936555-C-G c.1128C>G p.S376= Synonymous 4/19 - 1
17-40936555-C-T c.1128C>T p.S376= Synonymous 4/19 - 4
17-40936558-G-A c.1131G>A p.E377= Synonymous 4/19 - 2
17-40936566-A-C c.1139A>C p.N380T Missense 4/19 - 1
17-40936571-G-A c.1144G>A p.A382T Missense 4/19 - 1
17-40936573-G-A c.1146G>A p.A382= Synonymous 4/19 - 1
17-40936583-C-T c.1156C>T p.R386C Missense 4/19 - 2
17-40936584-G-A c.1157G>A p.R386H Missense 4/19 - 2
17-40936585-C-A c.1158C>A p.R386= Synonymous 4/19 - 1
17-40936585-C-G c.1158C>G p.R386= Synonymous 4/19 - 1
17-40936588-G-C c.1161G>C p.K387N Missense 4/19 - 1
17-40936588-G-T c.1161G>T p.K387N Missense 4/19 - 1
17-40936592-A-T c.1165A>T p.T389S Missense 4/19 - 1
17-40936593-C-G c.1166C>G p.T389S Missense 4/19 - 1
17-40936595-TCG-AAC c.1168_1170delinsAAC p.S390N Missense 4/19 - 1
17-40936598-G-A c.1170+1G>A - IntronicSNV - 4/18 1
17-40936618-G-A c.1170+21G>A - IntronicSNV - 4/18 1
17-40937116-G-A c.1172G>A p.G391D Missense 5/19 - 2
17-40937116-G-C c.1172G>C p.G391A Missense 5/19 - 1
17-40937118-A-T c.1174A>T p.R392* Nonsense 5/19 - 1
17-40937119-G-A c.1175G>A p.R392K Missense 5/19 - 1
17-40937126-G-A c.1182G>A p.P394= Synonymous 5/19 - 3
17-40937128-A-C c.1184A>C p.N395T Missense 5/19 - 1
17-40937128-A-G c.1184A>G p.N395S Missense 5/19 - 2
17-40937129-C-T c.1185C>T p.N395= Synonymous 5/19 - 2
17-40937131-G-A c.1187G>A p.S396N Missense 5/19 - 2
17-40937132-C-T c.1188C>T p.S396= Synonymous 5/19 - 1
17-40937135-C-T c.1191C>T p.F397= Synonymous 5/19 - 1
17-40937136-C-G c.1192C>G p.H398D Missense 5/19 - 3
17-40937137-A-G c.1193A>G p.H398R Missense 5/19 - 1
17-40937142-G-C c.1198G>C p.V400L Missense 5/19 - 1
17-40937142-G-T c.1198G>T p.V400L Missense 5/19 - 1
17-40937144-G-A c.1200G>A p.V400= Synonymous 5/19 - 1
17-40937144-G-C c.1200G>C p.V400= Synonymous 5/19 - 1
17-40937144-G-T c.1200G>T p.V400= Synonymous 5/19 - 1
17-40937147-G-T c.1203G>T p.K401N Missense 5/19 - 1
17-40937150-A-G c.1206A>G p.I402M Missense 5/19 - 1
17-40937151-C-A c.1207C>A p.P403T Missense 5/19 - 2
17-40937151-C-T c.1207C>T p.P403S Missense 5/19 - 1
17-40937163-G-T c.1219G>T p.E407* Nonsense 5/19 - 2
17-40937165-G-C c.1221G>C p.E407D Missense 5/19 - 1
17-40937166-A-T c.1222A>T p.I408F Missense 5/19 - 1
17-40937169-A-T c.1225A>T p.I409F Missense 5/19 - 1
17-40937176-G-A c.1232G>A p.G411D Missense 5/19 - 1
17-40937178-TG-AC c.1234_1235delinsAC p.C412T Missense 5/19 - 1
17-40937179-G-A c.1235G>A p.C412Y Missense 5/19 - 1
17-40937184-C-A c.1240C>A p.R414S Missense 5/19 - 1
17-40937184-C-T c.1240C>T p.R414C Missense 5/19 - 1
17-40937185-G-A c.1241G>A p.R414H Missense 5/19 - 1
17-40937185-G-C c.1241G>C p.R414P Missense 5/19 - 5
17-40937185-G-T c.1241G>T p.R414L Missense 5/19 - 1
17-40937187-A-C c.1243A>C p.T415P Missense 5/19 - 1
17-40937188-C-A c.1244C>A p.T415K Missense 5/19 - 4
17-40937190-G-A c.1246G>A p.D416N Missense 5/19 - 1
17-40937195-AG-A c.1251del p.N418Tfs*25 Frameshift 5/19 - 1
17-40937197-A-G c.1253A>G p.N418S Missense 5/19 - 1
17-40937198-C-T c.1254C>T p.N418= Synonymous 5/19 - 2
17-40937199-G-A c.1255G>A p.E419K Missense 5/19 - 2
17-40937199-G-C c.1255G>C p.E419Q Missense 5/19 - 1
17-40937202-AG-CA c.1258_1259delinsCA p.R420Q Missense 5/19 - 1
17-40937284-G-A c.1260G>A p.R420= Synonymous 6/19 - 2
17-40937302-C-T c.1278C>T p.L426= Synonymous 6/19 - 1
17-40937303-C-T c.1279C>T p.L427= Synonymous 6/19 - 1
17-40937309-C-T c.1285C>T p.H429Y Missense 6/19 - 1
17-40937311-C-T c.1287C>T p.H429= Synonymous 6/19 - 3
17-40937312-G-A c.1288G>A p.A430T Missense 6/19 - 3
17-40937313-C-G c.1289C>G p.A430G Missense 6/19 - 1
17-40937314-C-T c.1290C>T p.A430= Synonymous 6/19 - 1
17-40937321-C-T c.1297C>T p.R433C Missense 6/19 - 2
17-40937322-G-A c.1298G>A p.R433H Missense 6/19 - 1
17-40937323-C-T c.1299C>T p.R433= Synonymous 6/19 - 1
17-40937326-G-C c.1302G>C p.E434D Missense 6/19 - 1
17-40937326-G-T c.1302G>T p.E434D Missense 6/19 - 1
17-40937327-G-T c.1303G>T p.E435* Nonsense 6/19 - 1
17-40937330-C-A c.1306C>A p.R436S Missense 6/19 - 2
17-40937331-G-A c.1307G>A p.R436H Missense 6/19 - 1
17-40937334-G-T c.1310G>T p.G437V Missense 6/19 - 1
17-40937335-T-A c.1311T>A p.G437= Synonymous 6/19 - 1
17-40937335-T-C c.1311T>C p.G437= Synonymous 6/19 - 1
17-40937335-T-G c.1311T>G p.G437= Synonymous 6/19 - 1
17-40937347-A-T c.1323A>T p.E441D Missense 6/19 - 1
17-40937356-G-T c.1332G>T p.E444D Missense 6/19 - 2
17-40937360-G-C c.1336G>C p.D446H Missense 6/19 - 1
17-40937362-C-G c.1338C>G p.D446E Missense 6/19 - 1
17-40937363-G-A c.1339G>A p.D447N Missense 6/19 - 1
17-40937365-C-T c.1341C>T p.D447= Synonymous 6/19 - 1
17-40937366-G-T c.1342G>T p.G448C Missense 6/19 - 1
17-40937368-C-T c.1344C>T p.G448= Synonymous 6/19 - 2
17-40937369-G-C c.1345G>C p.E449Q Missense 6/19 - 1
17-40937371-G-A c.1347G>A p.E449= Synonymous 6/19 - 3
17-40937374-G-A c.1350G>A p.K450= Synonymous 6/19 - 1
17-40937375-C-T c.1351C>T p.P451S Missense 6/19 - 1
17-40937376-C-G c.1352C>G p.P451R Missense 6/19 - 1
17-40937376-C-T c.1352C>T p.P451L Missense 6/19 - 1
17-40937377-G-A c.1353G>A p.P451= Synonymous 6/19 - 2
17-40937377-G-C c.1353G>C p.P451= Synonymous 6/19 - 2
17-40937377-G-T c.1353G>T p.P451= Synonymous 6/19 - 2
17-40937378-G-T c.1354G>T p.G452C Missense 6/19 - 1
17-40937379-G-A c.1355G>A p.G452D Missense 6/19 - 2
17-40937380-C-A c.1356C>A p.G452= Synonymous 6/19 - 1
17-40937388-T-C c.1364T>C p.L455P Missense 6/19 - 1
17-40937389-C-A c.1365C>A p.L455= Synonymous 6/19 - 1
17-40937397-G-A c.1373G>A p.R458H Missense 6/19 - 1
17-40937399-A-C c.1375A>C p.M459L Missense 6/19 - 1
17-40937399-A-G c.1375A>G p.M459V Missense 6/19 - 1
17-40937399-A-T c.1375A>T p.M459L Missense 6/19 - 2
17-40937407-C-T c.1383C>T p.D461= Synonymous 6/19 - 1
17-40937409-C-T c.1385C>T p.A462V Missense 6/19 - 3
17-40937412-G-A c.1388G>A p.R463Q Missense 6/19 - 5
17-40937412-G-C c.1388G>C p.R463P Missense 6/19 - 1
17-40937412-GG-AT c.1388_1389delinsAT p.R463H Missense 6/19 - 1
17-40937414-C-T c.1390C>T p.R464C Missense 6/19 - 1
17-40937415-G-C c.1391G>C p.R464P Missense 6/19 - 1
17-40937416-C-T c.1392C>T p.R464= Synonymous 6/19 - 1
17-40937420-G-A c.1396G>A p.G466R Missense 6/19 - 2
17-40937420-G-C c.1396G>C p.G466R Missense 6/19 - 2
17-40937420-G-T c.1396G>T p.G466W Missense 6/19 - 1
17-40937416-C-CG c.1398dup p.R467Afs*34 Frameshift 6/19 - 1
17-40937416-CG-C c.1398del p.R467Afs*194 Frameshift 6/19 - 1
17-40937423-GC-G c.1399del p.R467Afs*194 Frameshift 6/19 - 3
17-40937426-C-A c.1402C>A p.P468T Missense 6/19 - 1
17-40937426-C-T c.1402C>T p.P468S Missense 6/19 - 1
17-40937429-CGG-TGT c.1405_1407delinsTGT p.R469C Missense 6/19 - 1
17-40937429-C-T c.1405C>T p.R469W Missense 6/19 - 3
17-40937438-C-G c.1414C>G p.Q472E Missense 6/19 - 1
17-40937442-C-T c.1418C>T p.A473V Missense 6/19 - 1
17-40937447-G-A c.1423G>A p.E475K Missense 6/19 - 1
17-40937453-C-T c.1429C>T p.L477= Synonymous 6/19 - 1
17-40937455-G-A c.1431G>A p.L477= Synonymous 6/19 - 1
17-40937455-G-C c.1431G>C p.L477= Synonymous 6/19 - 1
17-40937455-G-T c.1431G>T p.L477= Synonymous 6/19 - 1
17-40937461-G-C c.1437G>C p.Q479H Missense 6/19 - 1
17-40937461-G-T c.1437G>T p.Q479H Missense 6/19 - 1
17-40937466-G-A c.1442G>A p.G481D Missense 6/19 - 1
17-40937467-C-A c.1443C>A p.G481= Synonymous 6/19 - 1
17-40937467-C-G c.1443C>G p.G481= Synonymous 6/19 - 1
17-40937467-C-T c.1443C>T p.G481= Synonymous 6/19 - 1
17-40937468-C-T c.1444C>T p.R482W Missense 6/19 - 3
17-40937469-G-A c.1445G>A p.R482Q Missense 6/19 - 2
17-40937473-C-T c.1449C>T p.D483= Synonymous 6/19 - 1
17-40937474-G-A c.1450G>A p.A484T Missense 6/19 - 1
17-40937474-G-T c.1450G>T p.A484S Missense 6/19 - 1
17-40937474-G-GC c.1451dup p.A485Gfs*16 Frameshift 6/19 - 1
17-40937475-C-T c.1451C>T p.A484V Missense 6/19 - 1
17-40937482-G-T c.1458G>T p.E486D Missense 6/19 - 1
17-40937483-G-A c.1459G>A p.E487K Missense 6/19 - 4
17-40937486-G-A c.1462G>A p.V488M Missense 6/19 - 2
17-40937487-T-C c.1463T>C p.V488A Missense 6/19 - 2
17-40937490-C-G c.1466C>G p.A489G Missense 6/19 - 1
17-40937493-A-T c.1469A>T p.Q490L Missense 6/19 - 1
17-40938940-C-G c.1477-356C>G - IntronicSNV - 6/18 1
17-40938940-C-T c.1477-356C>T - IntronicSNV - 6/18 1
17-40939232-C-T c.1477-64C>T - IntronicSNV - 6/18 1
17-40939294-A-G c.1477-2A>G - IntronicSNV - 6/18 1
17-40939296-G-A c.1477G>A p.V493M Missense 7/19 - 1
17-40939298-G-A c.1479G>A p.V493= Synonymous 7/19 - 1
17-40939298-G-C c.1479G>C p.V493= Synonymous 7/19 - 1
17-40939298-G-T c.1479G>T p.V493= Synonymous 7/19 - 1
17-40939299-G-A c.1480G>A p.A494T Missense 7/19 - 3
17-40939300-C-T c.1481C>T p.A494V Missense 7/19 - 2
17-40939305-G-T c.1486G>T p.G496C Missense 7/19 - 1
17-40939314-TG-AC c.1495_1496delinsAC p.C499T Missense 7/19 - 1
17-40939323-G-A c.1504G>A p.D502N Missense 7/19 - 1
17-40939329-C-T c.1510C>T p.Q504* Nonsense 7/19 - 2
17-40939338-G-A c.1519G>A p.A507T Missense 7/19 - 1
17-40939340-C-T c.1521C>T p.A507= Synonymous 7/19 - 1
17-40939341-C-T c.1522C>T p.R508C Missense 7/19 - 3
17-40939342-G-A c.1523G>A p.R508H Missense 7/19 - 5
17-40939343-T-C c.1524T>C p.R508= Synonymous 7/19 - 1
17-40939344-G-A c.1525G>A p.A509T Missense 7/19 - 1
17-40939345-C-T c.1526C>T p.A509V Missense 7/19 - 1
17-40939347-G-C c.1528G>C p.V510L Missense 7/19 - 1
17-40939347-G-T c.1528G>T p.V510L Missense 7/19 - 2
17-40939349-A-G c.1530A>G p.V510= Synonymous 7/19 - 1
17-40939350-C-A c.1531C>A p.R511S Missense 7/19 - 1
17-40939350-CGT-AAG c.1531_1533delinsAAG p.R511K Missense 7/19 - 1
17-40939350-C-T c.1531C>T p.R511C Missense 7/19 - 2
17-40939351-G-A c.1532G>A p.R511H Missense 7/19 - 3
17-40939356-C-T c.1537C>T p.R513W Missense 7/19 - 2
17-40939362-G-T c.1543G>T p.A515S Missense 7/19 - 1
17-40939366-C-A c.1547C>A p.A516D Missense 7/19 - 3
17-40939370-C-A c.1551C>A p.I517= Synonymous 7/19 - 2
17-40939370-C-T c.1551C>T p.I517= Synonymous 7/19 - 1
17-40939372-A-T c.1553A>T p.Q518L Missense 7/19 - 1
17-40939374-GCGA-G c.1555_1557del p.R519del InFrameDeletion 7/19 - 1
17-40939375-G-A c.1556G>A p.R519Q Missense 7/19 - 2
17-40939379-G-A c.1560G>A p.K520= Synonymous 7/19 - 1
17-40939380-C-T c.1561C>T p.R521C Missense 7/19 - 3
17-40939381-G-A c.1562G>A p.R521H Missense 7/19 - 5
17-40939387-A-C c.1568A>C p.K523T Missense 7/19 - 1
17-40939389-C-T c.1570C>T p.L524= Synonymous 7/19 - 2
17-40939391-G-A c.1572G>A p.L524= Synonymous 7/19 - 2
17-40939391-G-C c.1572G>C p.L524= Synonymous 7/19 - 2
17-40939391-G-T c.1572G>T p.L524= Synonymous 7/19 - 2
17-40939392-C-G c.1573C>G p.R525G Missense 7/19 - 1
17-40939393-G-A c.1574G>A p.R525H Missense 7/19 - 2
17-40939393-G-C c.1574G>C p.R525P Missense 7/19 - 4
17-40939397-A-C c.1578A>C p.K526N Missense 7/19 - 1
17-40939397-A-T c.1578A>T p.K526N Missense 7/19 - 1
17-40939399-C-T c.1580C>T p.A527V Missense 7/19 - 1
17-40939401-AGG-CAT c.1582_1584delinsCAT p.R528H Missense 7/19 - 3
17-40939401-AGG-TGT c.1582_1584delinsTGT p.R528C Missense 7/19 - 1
17-40939402-G-A c.1583G>A p.R528K Missense 7/19 - 2
17-40939402-G-C c.1583G>C p.R528T Missense 7/19 - 1
17-40939401-A-C c.1582A>C p.R528= Synonymous 7/19 - 1
17-40939403-G-A c.1584G>A p.R528= Synonymous 7/19 - 1
17-40939404-G-A c.1585G>A p.E529K Missense 7/19 - 1
17-40939405-A-G c.1586A>G p.E529G Missense 7/19 - 2
17-40939409-G-A c.1590G>A p.L530= Synonymous 7/19 - 3
17-40939413-G-A c.1594G>A p.A532T Missense 7/19 - 2
17-40939414-C-T c.1595C>T p.A532V Missense 7/19 - 1
17-40939418-C-T c.1599C>T p.L533= Synonymous 7/19 - 2
17-40939425-G-A c.1606G>A p.E536K Missense 7/19 - 1
17-40939425-G-C c.1606G>C p.E536Q Missense 7/19 - 1
17-40939428-C-A c.1609C>A p.P537T Missense 7/19 - 1
17-40939428-C-T c.1609C>T p.P537S Missense 7/19 - 3
17-40939429-C-A c.1610C>A p.P537Q Missense 7/19 - 1
17-40939431-GG-AA c.1612_1613delinsAA p.G538K Missense 7/19 - 1
17-40939431-GGA-TGT c.1612_1614delinsTGT p.G538C Missense 7/19 - 1
17-40939432-G-A c.1613G>A p.G538E Missense 7/19 - 2
17-40939434-C-T c.1615C>T p.P539S Missense 7/19 - 1
17-40939443-G-A c.1624G>A p.A542T Missense 7/19 - 1
17-40939444-C-G c.1625C>G p.A542G Missense 7/19 - 4
17-40939444-C-T c.1625C>T p.A542V Missense 7/19 - 1
17-40939447-CT-GG c.1628_1629delinsGG p.T543R Missense 7/19 - 1
17-40939449-G-A c.1630G>A p.V544M Missense 7/19 - 1
17-40939447-CTG-C c.1631_1632del p.V544Afs*13 Frameshift 7/19 - 1
17-40939455-A-C c.1636A>C p.M546L Missense 7/19 - 2
17-40939455-A-T c.1636A>T p.M546L Missense 7/19 - 2
17-40939456-T-TGGGGGCGGGGGGGGGGGGG c.1639_1640insGGGCGGGGGGGGGGGGGGG p.A547Gfs*17 Frameshift 7/19 - 1
17-40939458-G-C c.1639G>C p.A547P Missense 7/19 - 1
17-40939459-C-T c.1640C>T p.A547V Missense 7/19 - 1
17-40939460-C-A c.1641C>A p.A547= Synonymous 7/19 - 5
17-40939460-C-T c.1641C>T p.A547= Synonymous 7/19 - 5
17-40939461-C-G c.1642C>G p.P548A Missense 7/19 - 1
17-40939461-C-T c.1642C>T p.P548S Missense 7/19 - 1
17-40939462-C-A c.1643C>A p.P548H Missense 7/19 - 1
17-40939464-G-A c.1645G>A p.G549S Missense 7/19 - 1
17-40939466-T-A c.1647T>A p.G549= Synonymous 7/19 - 2
17-40939466-T-C c.1647T>C p.G549= Synonymous 7/19 - 2
17-40939466-T-G c.1647T>G p.G549= Synonymous 7/19 - 2
17-40939467-C-T c.1648C>T p.P550S Missense 7/19 - 1
17-40939468-C-T c.1649C>T p.P550L Missense 7/19 - 1
17-40939471-C-T c.1652C>T p.P551L Missense 7/19 - 1
17-40939472-C-T c.1653C>T p.P551= Synonymous 7/19 - 1
17-40939473-A-G c.1654A>G p.S552G Missense 7/19 - 2
17-40939474-G-C c.1655G>C p.S552T Missense 7/19 - 1
17-40939473-A-C c.1654A>C p.S552R Missense 7/19 - 2
17-40939475-T-A c.1656T>A p.S552R Missense 7/19 - 1
17-40939475-T-C c.1656T>C p.S552= Synonymous 7/19 - 2
17-40939475-T-G c.1656T>G p.S552R Missense 7/19 - 1
17-40939478-C-A c.1659C>A p.V553= Synonymous 7/19 - 1
17-40939478-C-G c.1659C>G p.V553= Synonymous 7/19 - 1
17-40939478-C-T c.1659C>T p.V553= Synonymous 7/19 - 2
17-40939479-T-C c.1660T>C p.F554L Missense 7/19 - 1
17-40939479-T-G c.1660T>G p.F554V Missense 7/19 - 1
17-40939481-C-A c.1662C>A p.F554L Missense 7/19 - 1
17-40939481-C-G c.1662C>G p.F554L Missense 7/19 - 1
17-40939481-C-T c.1662C>T p.F554= Synonymous 7/19 - 6
17-40939483-C-A c.1664C>A p.P555H Missense 7/19 - 2
17-40939483-C-G c.1664C>G p.P555R Missense 7/19 - 6
17-40939484-C-T c.1665C>T p.P555= Synonymous 7/19 - 1
17-40939485-C-A c.1666C>A p.P556T Missense 7/19 - 3
17-40939480-TC-T c.1667del p.P556Lfs*105 Frameshift 7/19 - 1
17-40939491-C-T c.1672C>T p.P558S Missense 7/19 - 1
17-40939492-C-A c.1673C>A p.P558H Missense 7/19 - 1
17-40939492-C-T c.1673C>T p.P558L Missense 7/19 - 1
17-40939494-G-A c.1675G>A p.E559K Missense 7/19 - 13
17-40939494-G-T c.1675G>T p.E559* Nonsense 7/19 - 1
17-40939496-G-A c.1677G>A p.E559= Synonymous 7/19 - 3
17-40939498-A-G c.1679A>G p.E560G Missense 7/19 - 1
17-40939500-C-T c.1681C>T p.P561S Missense 7/19 - 1
17-40939501-C-A c.1682C>A p.P561Q Missense 7/19 - 1
17-40939501-C-G c.1682C>G p.P561R Missense 7/19 - 1
17-40939501-C-T c.1682C>T p.P561L Missense 7/19 - 1
17-40939502-A-C c.1683A>C p.P561= Synonymous 7/19 - 1
17-40939502-A-G c.1683A>G p.P561= Synonymous 7/19 - 1
17-40939502-A-T c.1683A>T p.P561= Synonymous 7/19 - 1
17-40939503-G-A c.1684G>A p.E562K Missense 7/19 - 21
17-40939504-A-G c.1685A>G p.E562G Missense 7/19 - 1
17-40939505-G-A c.1686G>A p.E562= Synonymous 7/19 - 2
17-40939507-C-G c.1688C>G p.A563G Missense 7/19 - 1
17-40939509-G-A c.1690G>A p.D564N Missense 7/19 - 4
17-40939509-G-C c.1690G>C p.D564H Missense 7/19 - 3
17-40939510-A-C c.1691A>C p.D564A Missense 7/19 - 17
17-40939512-C-G c.1693C>G p.Q565E Missense 7/19 - 33
17-40939514-G-A c.1695G>A p.Q565= Synonymous 7/19 - 2
17-40939517-C-T c.1698C>T p.H566= Synonymous 7/19 - 4
17-40939524-T-G c.1705T>G p.F569V Missense 7/19 - 1
17-40939532-C-T c.1713C>T p.F571= Synonymous 7/19 - 1
17-40939533-C-A c.1714C>A p.R572S Missense 7/19 - 2
17-40939533-C-T c.1714C>T p.R572C Missense 7/19 - 3
17-40939539-G-A c.1720G>A p.A574T Missense 7/19 - 1
17-40939540-C-G c.1721C>G p.A574G Missense 7/19 - 4
17-40939542-AGC-GAG c.1723_1725delinsGAG p.S575E Missense 7/19 - 1
17-40939542-AG-GA c.1723_1724delinsGA p.S575D Missense 7/19 - 1
17-40939542-AG-GC c.1723_1724delinsGC p.S575A Missense 7/19 - 1
17-40939549-C-A c.1730C>A p.S577* Nonsense 7/19 - 1
17-40939549-C-G c.1730C>G p.S577* Nonsense 7/19 - 1
17-40939549-C-T c.1730C>T p.S577L Missense 7/19 - 1
17-40939554-A-AC c.1737dup p.T580Hfs*7 Frameshift 7/19 - 1
17-40939558-C-T c.1739C>T p.T580I Missense 7/19 - 1
17-40939797-G-A c.1743G>A p.S581= Synonymous 8/19 - 2
17-40939797-G-C c.1743G>C p.S581= Synonymous 8/19 - 1
17-40939797-G-T c.1743G>T p.S581= Synonymous 8/19 - 1
17-40939798-G-A c.1744G>A p.D582N Missense 8/19 - 1
17-40939801-TG-AC c.1747_1748delinsAC p.C583T Missense 8/19 - 1
17-40939804-G-C c.1750G>C p.E584Q Missense 8/19 - 1
17-40939807-AC-TG c.1753_1754delinsTG p.T585C Missense 8/19 - 1
17-40939808-C-T c.1754C>T p.T585I Missense 8/19 - 1
17-40939810-G-A c.1756G>A p.D586N Missense 8/19 - 1
17-40939814-G-T c.1760G>T p.G587V Missense 8/19 - 1
17-40939816-T-C c.1762T>C p.Y588H Missense 8/19 - 1
17-40939817-A-C c.1763A>C p.Y588S Missense 8/19 - 2
17-40939820-T-C c.1766T>C p.L589P Missense 8/19 - 1
17-40939822-AG-TT c.1768_1769delinsTT p.S590F Missense 8/19 - 1
17-40939826-C-A c.1772C>A p.S591Y Missense 8/19 - 1
17-40939826-C-T c.1772C>T p.S591F Missense 8/19 - 1
17-40939827-C-A c.1773C>A p.S591= Synonymous 8/19 - 1
17-40939827-C-G c.1773C>G p.S591= Synonymous 8/19 - 1
17-40939827-C-T c.1773C>T p.S591= Synonymous 8/19 - 1
17-40939830-C-T c.1776C>T p.S592= Synonymous 8/19 - 1
17-40939836-C-T c.1782C>T p.F594= Synonymous 8/19 - 1
17-40939837-C-T c.1783C>T p.L595= Synonymous 8/19 - 1
17-40939847-CA-TT c.1793_1794delinsTT p.S598F Missense 8/19 - 1
17-40939848-A-T c.1794A>T p.S598= Synonymous 8/19 - 1
17-40939852-C-A c.1798C>A p.P600T Missense 8/19 - 2
17-40939854-CT-C c.1800del p.A601Pfs*60 Frameshift 8/19 - 1
17-40939855-G-A c.1801G>A p.A601T Missense 8/19 - 4
17-40939855-G-T c.1801G>T p.A601S Missense 8/19 - 13
17-40939857-C-A c.1803C>A p.A601= Synonymous 8/19 - 2
17-40939857-C-G c.1803C>G p.A601= Synonymous 8/19 - 1
17-40939857-C-T c.1803C>T p.A601= Synonymous 8/19 - 2
17-40939860-T-A c.1806T>A p.L602= Synonymous 8/19 - 1
17-40939860-T-C c.1806T>C p.L602= Synonymous 8/19 - 1
17-40939860-T-G c.1806T>G p.L602= Synonymous 8/19 - 1
17-40939861-C-T c.1807C>T p.Q603* Nonsense 8/19 - 1
17-40939863-G-A c.1809G>A p.Q603= Synonymous 8/19 - 2
17-40939864-C-G c.1810C>G p.P604A Missense 8/19 - 1
17-40939865-C-T c.1811C>T p.P604L Missense 8/19 - 2
17-40939866-C-T c.1812C>T p.P604= Synonymous 8/19 - 3
17-40939868-C-A c.1814C>A p.P605H Missense 8/19 - 3
17-40939869-CT-C c.1815del p.V608Cfs*53 Frameshift 8/19 - 1
17-40939870-G-A c.1816G>A p.G606R Missense 8/19 - 1
17-40939870-G-C c.1816G>C p.G606R Missense 8/19 - 1
17-40939870-G-T c.1816G>T p.G606W Missense 8/19 - 1
17-40939871-G-A c.1817G>A p.G606E Missense 8/19 - 1
17-40939873-G-A c.1819G>A p.G607R Missense 8/19 - 4
17-40939873-G-T c.1819G>T p.G607W Missense 8/19 - 2
17-40939869-TG-T c.1822del p.V608Cfs*53 Frameshift 8/19 - 9
17-40939869-T-TG c.1822dup p.V608Gfs*7 Frameshift 8/19 - 4
17-40939876-G-A c.1822G>A p.V608M Missense 8/19 - 2
17-40939878-G-A c.1824G>A p.V608= Synonymous 8/19 - 1
17-40939878-G-C c.1824G>C p.V608= Synonymous 8/19 - 1
17-40939878-G-T c.1824G>T p.V608= Synonymous 8/19 - 1
17-40939878-GC-G c.1826del p.P609Hfs*52 Frameshift 8/19 - 1
17-40939880-C-T c.1826C>T p.P609L Missense 8/19 - 1
17-40939882-TC-CT c.1828_1829delinsCT p.S610L Missense 8/19 - 1
17-40939883-C-T c.1829C>T p.S610F Missense 8/19 - 1
17-40939886-G-A c.1832G>A p.S611N Missense 8/19 - 1
17-40939894-G-A c.1840G>A p.E614K Missense 8/19 - 1
17-40939894-G-T c.1840G>T p.E614* Nonsense 8/19 - 1
17-40939897-TC-CT c.1843_1844delinsCT p.S615L Missense 8/19 - 1
17-40939898-C-A c.1844C>A p.S615Y Missense 8/19 - 1
17-40939903-C-A c.1849C>A p.L617I Missense 8/19 - 2
17-40939905-C-A c.1851C>A p.L617= Synonymous 8/19 - 1
17-40939905-C-G c.1851C>G p.L617= Synonymous 8/19 - 1
17-40939905-C-T c.1851C>T p.L617= Synonymous 8/19 - 1
17-40939906-T-C c.1852T>C p.C618R Missense 8/19 - 1
17-40939907-G-T c.1853G>T p.C618F Missense 8/19 - 2
17-40939912-C-A c.1858C>A p.P620T Missense 8/19 - 1
17-40939912-C-G c.1858C>G p.P620A Missense 8/19 - 1
17-40939913-C-T c.1859C>T p.P620L Missense 8/19 - 1
17-40939914-C-T c.1860C>T p.P620= Synonymous 8/19 - 1
17-40939915-T-A c.1861T>A p.S621T Missense 8/19 - 1
17-40939915-T-C c.1861T>C p.S621P Missense 8/19 - 1
17-40939916-C-T c.1862C>T p.S621L Missense 8/19 - 3
17-40939917-G-A c.1863G>A p.S621= Synonymous 8/19 - 1
17-40939945-C-CA c.1863+29dup - IntronicInsertion - 8/18 1
17-40939972-C-A c.1863+55C>A - IntronicSNV - 8/18 1
17-40940035-C-A c.1864-113C>A - IntronicSNV - 8/18 1
17-40940035-C-T c.1864-113C>T - IntronicSNV - 8/18 1
17-40940149-C-G c.1865C>G p.A622G Missense 9/19 - 1
17-40940150-T-C c.1866T>C p.A622= Synonymous 9/19 - 1
17-40940155-C-T c.1871C>T p.A624V Missense 9/19 - 1
17-40940161-C-A c.1877C>A p.S626Y Missense 9/19 - 1
17-40940162-C-T c.1878C>T p.S626= Synonymous 9/19 - 3
17-40940169-C-T c.1885C>T p.R629C Missense 9/19 - 1
17-40940170-G-A c.1886G>A p.R629H Missense 9/19 - 1
17-40940170-GT-AA c.1886_1887delinsAA p.R629Q Missense 9/19 - 1
17-40940172-T-C c.1888T>C p.S630P Missense 9/19 - 2
17-40940175-G-T c.1891G>T p.G631C Missense 9/19 - 1
17-40940177-C-T c.1893C>T p.G631= Synonymous 9/19 - 1
17-40940178-C-G c.1894C>G p.P632A Missense 9/19 - 1
17-40940182-G-T c.1898G>T p.G633V Missense 9/19 - 1
17-40940185-G-C c.1901G>C p.S634T Missense 9/19 - 1
17-40940189-C-A c.1905C>A p.D635E Missense 9/19 - 1
17-40940189-C-G c.1905C>G p.D635E Missense 9/19 - 1
17-40940189-CTT-C c.1908_1909del p.S637Pfs*14 Frameshift 9/19 - 1
17-40940193-TTC-T c.1909_1910del p.S637Pfs*14 Frameshift 9/19 - 2
17-40940194-C-T c.1910C>T p.S637F Missense 9/19 - 3
17-40940198-C-A c.1914C>A p.P638= Synonymous 9/19 - 1
17-40940198-C-G c.1914C>G p.P638= Synonymous 9/19 - 1
17-40940198-C-T c.1914C>T p.P638= Synonymous 9/19 - 2
17-40940199-G-A c.1915G>A p.G639R Missense 9/19 - 1
17-40940199-G-T c.1915G>T p.G639W Missense 9/19 - 2
17-40940201-G-A c.1917G>A p.G639= Synonymous 9/19 - 1
17-40940202-G-A c.1918G>A p.D640N Missense 9/19 - 1
17-40940203-A-G c.1919A>G p.D640G Missense 9/19 - 1
17-40940205-AG-GC c.1921_1922delinsGC p.S641A Missense 9/19 - 1
17-40940232-C-T c.1922+26C>T - IntronicSNV - 9/18 1
17-40940308-C-T c.1923C>T p.S641= Synonymous 10/19 - 1
17-40940311-T-C c.1926T>C p.Y642= Synonymous 10/19 - 1
17-40940312-G-A c.1927G>A p.A643T Missense 10/19 - 1
17-40940313-C-T c.1928C>T p.A643V Missense 10/19 - 1
17-40940320-T-A c.1935T>A p.D645E Missense 10/19 - 1
17-40940320-T-G c.1935T>G p.D645E Missense 10/19 - 1
17-40940321-G-T c.1936G>T p.A646S Missense 10/19 - 1
17-40940325-C-T c.1940C>T p.A647V Missense 10/19 - 1
17-40940333-C-T c.1948C>T p.L650F Missense 10/19 - 4
17-40940339-G-A c.1954G>A p.D652N Missense 10/19 - 1
17-40940344-G-T c.1959G>T p.V653= Synonymous 10/19 - 2
17-40940346-G-A c.1961G>A p.G654E Missense 10/19 - 2
17-40940366-AGG-TGT c.1981_1983delinsTGT p.R661C Missense 10/19 - 1
17-40940368-G-A c.1983G>A p.R661= Synonymous 10/19 - 1
17-40940369-A-G c.1984A>G p.R662G Missense 10/19 - 1
17-40940372-C-T c.1987C>T p.P663S Missense 10/19 - 2
17-40940375-C-A c.1990C>A p.P664T Missense 10/19 - 1
17-40940376-C-T c.1991C>T p.P664L Missense 10/19 - 2
17-40940379-G-A c.1994G>A p.G665E Missense 10/19 - 1
17-40940380-G-A c.1995G>A p.G665= Synonymous 10/19 - 2
17-40940380-G-C c.1995G>C p.G665= Synonymous 10/19 - 2
17-40940380-G-T c.1995G>T p.G665= Synonymous 10/19 - 2
17-40940381-A-C c.1996A>C p.R666= Synonymous 10/19 - 1
17-40940383-G-A c.1998G>A p.R666= Synonymous 10/19 - 1
17-40940387-C-T c.2002C>T p.L668F Missense 10/19 - 3
17-40940388-T-C c.2003T>C p.L668P Missense 10/19 - 1
17-40940389-C-T c.2004C>T p.L668= Synonymous 10/19 - 1
17-40940390-C-T c.2005C>T p.R669W Missense 10/19 - 7
17-40940391-G-A c.2006G>A p.R669Q Missense 10/19 - 3
17-40940392-G-A c.2007G>A p.R669= Synonymous 10/19 - 2
17-40940393-C-T c.2008C>T p.R670C Missense 10/19 - 1
17-40940394-G-A c.2009G>A p.R670H Missense 10/19 - 1
17-40940399-C-A c.2014C>A p.P672T Missense 10/19 - 1
17-40940399-C-T c.2014C>T p.P672S Missense 10/19 - 1
17-40940400-C-A c.2015C>A p.P672H Missense 10/19 - 1
17-40940401-C-A c.2016C>A p.P672= Synonymous 10/19 - 1
17-40940401-C-G c.2016C>G p.P672= Synonymous 10/19 - 1
17-40940401-C-T c.2016C>T p.P672= Synonymous 10/19 - 1
17-40940403-G-A c.2018G>A p.R673Q Missense 10/19 - 4
17-40940408-C-T c.2023C>T p.R675W Missense 10/19 - 1
17-40940407-CCGG-C c.2024_2026del p.R675del InFrameDeletion 10/19 - 1
17-40940409-G-A c.2024G>A p.R675Q Missense 10/19 - 2
17-40940410-G-A c.2025G>A p.R675= Synonymous 10/19 - 2
17-40940414-C-A c.2029C>A p.R677= Synonymous 10/19 - 2
17-40940414-C-T c.2029C>T p.R677W Missense 10/19 - 3
17-40940416-G-A c.2031G>A p.R677= Synonymous 10/19 - 2
17-40940416-G-C c.2031G>C p.R677= Synonymous 10/19 - 2
17-40940416-G-T c.2031G>T p.R677= Synonymous 10/19 - 2
17-40940415-G-A c.2030G>A p.R677Q Missense 10/19 - 3
17-40940417-G-C c.2032G>C p.V678L Missense 10/19 - 1
17-40940426-G-A c.2040+1G>A - IntronicSNV - 10/18 1
17-40940579-G-A c.2041-120G>A - IntronicSNV - 10/18 3
17-40940699-G-A c.2041G>A p.V681I Missense 11/19 - 1
17-40940699-G-T c.2041G>T p.V681F Missense 11/19 - 1
17-40940714-G-A c.2056G>A p.D686N Missense 11/19 - 2
17-40940717-A-G c.2059A>G p.R687G Missense 11/19 - 1
17-40940718-G-C c.2060G>C p.R687T Missense 11/19 - 3
17-40940726-G-C c.2068G>C p.E690Q Missense 11/19 - 3
17-40940730-G-A c.2072G>A p.C691Y Missense 11/19 - 1
17-40940730-G-T c.2072G>T p.C691F Missense 11/19 - 1
17-40940731-C-T c.2073C>T p.C691= Synonymous 11/19 - 1
17-40940735-C-T c.2077C>T p.L693= Synonymous 11/19 - 2
17-40940737-A-C c.2079A>C p.L693= Synonymous 11/19 - 1
17-40940737-A-G c.2079A>G p.L693= Synonymous 11/19 - 1
17-40940737-A-T c.2079A>T p.L693= Synonymous 11/19 - 1
17-40940738-C-T c.2080C>T p.Q694* Nonsense 11/19 - 1
17-40940739-A-G c.2081A>G p.Q694R Missense 11/19 - 1
17-40940740-G-C c.2082G>C p.Q694H Missense 11/19 - 1
17-40940740-G-T c.2082G>T p.Q694H Missense 11/19 - 1
17-40940743-C-A c.2085C>A p.T695= Synonymous 11/19 - 2
17-40940748-A-C c.2090A>C p.N697T Missense 11/19 - 2
17-40940748-A-G c.2090A>G p.N697S Missense 11/19 - 2
17-40940755-G-C c.2097G>C p.K699N Missense 11/19 - 1
17-40940755-G-T c.2097G>T p.K699N Missense 11/19 - 1
17-40940764-C-G c.2106C>G p.T702= Synonymous 11/19 - 1
17-40940764-C-T c.2106C>T p.T702= Synonymous 11/19 - 1
17-40940768-C-A c.2110C>A p.R704= Synonymous 11/19 - 1
17-40940770-A-C c.2112A>C p.R704= Synonymous 11/19 - 1
17-40940770-A-G c.2112A>G p.R704= Synonymous 11/19 - 1
17-40940770-A-T c.2112A>T p.R704= Synonymous 11/19 - 1
17-40940769-G-A c.2111G>A p.R704Q Missense 11/19 - 5
17-40940774-G-T c.2116G>T p.D706Y Missense 11/19 - 1
17-40940774-TG-T c.2116del p.D706Ifs*43 Frameshift 11/19 - 1
17-40940775-A-C c.2117A>C p.D706A Missense 11/19 - 3
17-40940780-G-T c.2122G>T p.D708Y Missense 11/19 - 1
17-40940789-A-T c.2131A>T p.S711C Missense 11/19 - 1
17-40940791-C-G c.2133C>G p.S711R Missense 11/19 - 1
17-40940791-C-T c.2133C>T p.S711= Synonymous 11/19 - 1
17-40940793-C-A c.2135C>A p.P712Q Missense 11/19 - 3
17-40940793-C-T c.2135C>T p.P712L Missense 11/19 - 3
17-40940794-G-A c.2136G>A p.P712= Synonymous 11/19 - 3
17-40940794-G-C c.2136G>C p.P712= Synonymous 11/19 - 1
17-40940794-G-T c.2136G>T p.P712= Synonymous 11/19 - 1
17-40940797-A-G c.2139A>G p.E713= Synonymous 11/19 - 3
17-40940798-G-A c.2140G>A p.E714K Missense 11/19 - 2
17-40940800-G-A c.2142G>A p.E714= Synonymous 11/19 - 2
17-40940805-C-A c.2147C>A p.A716E Missense 11/19 - 2
17-40940805-C-T c.2147C>T p.A716V Missense 11/19 - 2
17-40940808-C-A c.2150C>A p.A717D Missense 11/19 - 3
17-40940810-G-A c.2152G>A p.A718T Missense 11/19 - 1
17-40940820-G-A c.2157+5G>A - IntronicSNV - 11/18 1
17-40943095-C-T c.2157+2280C>T - IntronicSNV - 11/18 1
17-40944609-T-A c.2158-1001T>A - IntronicSNV - 11/18 1
17-40945518-G-A c.2158-92G>A - IntronicSNV - 11/18 1
17-40945529-G-C c.2158-81G>C - IntronicSNV - 11/18 1
17-40945610-G-A c.2158G>A p.V720I Missense 12/19 - 2
17-40945618-C-A c.2166C>A p.N722K Missense 12/19 - 1
17-40945618-C-T c.2166C>T p.N722= Synonymous 12/19 - 3
17-40945619-G-A c.2167G>A p.E723K Missense 12/19 - 5
17-40945630-G-A c.2178G>A p.L726= Synonymous 12/19 - 1
17-40945635-C-T c.2183C>T p.S728L Missense 12/19 - 4
17-40945636-G-A c.2184G>A p.S728= Synonymous 12/19 - 1
17-40945640-C-T c.2188C>T p.R730* Nonsense 12/19 - 2
17-40945641-G-A c.2189G>A p.R730Q Missense 12/19 - 7
17-40945647-G-T c.2195G>T p.G732V Missense 12/19 - 1
17-40945649-T-C c.2197T>C p.F733L Missense 12/19 - 2
17-40945654-C-A c.2202C>A p.L734= Synonymous 12/19 - 1
17-40945654-C-G c.2202C>G p.L734= Synonymous 12/19 - 1
17-40945654-C-T c.2202C>T p.L734= Synonymous 12/19 - 1
17-40945658-C-T c.2206C>T p.R736W Missense 12/19 - 3
17-40945659-G-A c.2207G>A p.R736Q Missense 12/19 - 4
17-40945659-GG-AT c.2207_2208delinsAT p.R736H Missense 12/19 - 1
17-40945659-G-T c.2207G>T p.R736L Missense 12/19 - 1
17-40945661-A-C c.2209A>C p.I737L Missense 12/19 - 1
17-40945664-C-T c.2212C>T p.R738W Missense 12/19 - 3
17-40945665-G-A c.2213G>A p.R738Q Missense 12/19 - 3
17-40945671-T-C c.2219T>C p.I740T Missense 12/19 - 2
17-40945672-T-G c.2220T>G p.I740M Missense 12/19 - 1
17-40945680-G-A c.2228G>A p.R743Q Missense 12/19 - 1
17-40945680-G-T c.2228G>T p.R743L Missense 12/19 - 1
17-40945682-G-A c.2230G>A p.V744M Missense 12/19 - 1
17-40945685-G-A c.2233G>A p.E745K Missense 12/19 - 1
17-40945688-A-G c.2236A>G p.T746A Missense 12/19 - 1
17-40945689-C-A c.2237C>A p.T746N Missense 12/19 - 1
17-40945696-G-C c.2244G>C p.L748F Missense 12/19 - 1
17-40945701-G-A c.2249G>A p.R750K Missense 12/19 - 1
17-40945712-C-T c.2260C>T p.P754S Missense 12/19 - 1
17-40945725-C-T c.2273C>T p.A758V Missense 12/19 - 1
17-40945727-G-A c.2275G>A p.E759K Missense 12/19 - 3
17-40945737-T-G c.2285T>G p.L762R Missense 12/19 - 1
17-40945736-C-T c.2284C>T p.L762= Synonymous 12/19 - 1
17-40945743-C-G c.2291C>G p.P764R Missense 12/19 - 1
17-40945743-C-T c.2291C>T p.P764L Missense 12/19 - 1
17-40945874-C-CT c.2295+141dup - IntronicInsertion - 12/18 1
17-40945874-CT-C c.2295+141del - IntronicDeletion - 12/18 1
17-40945893-ATG-A c.2295+146_2295+147del - IntronicDeletion - 12/18 1
17-40945910-G-A c.2295+163G>A - IntronicSNV - 12/18 1
17-40946634-G-A c.2298G>A p.E766= Synonymous 13/19 - 1
17-40946635-G-A c.2299G>A p.E767K Missense 13/19 - 4
17-40946635-G-T c.2299G>T p.E767* Nonsense 13/19 - 2
17-40946643-A-C c.2307A>C p.A769= Synonymous 13/19 - 1
17-40946643-A-G c.2307A>G p.A769= Synonymous 13/19 - 1
17-40946643-A-T c.2307A>T p.A769= Synonymous 13/19 - 1
17-40946645-C-T c.2309C>T p.P770L Missense 13/19 - 1
17-40946651-C-A c.2315C>A p.P772H Missense 13/19 - 2
17-40946654-C-T c.2318C>T p.A773V Missense 13/19 - 1
17-40946657-T-C c.2321T>C p.L774P Missense 13/19 - 1
17-40946660-C-T c.2324C>T p.P775L Missense 13/19 - 2
17-40946661-C-A c.2325C>A p.P775= Synonymous 13/19 - 4
17-40946661-C-G c.2325C>G p.P775= Synonymous 13/19 - 3
17-40946661-C-T c.2325C>T p.P775= Synonymous 13/19 - 2
17-40946662-G-T c.2326G>T p.V776F Missense 13/19 - 2
17-40946663-T-C c.2327T>C p.V776A Missense 13/19 - 1
17-40946664-C-G c.2328C>G p.V776= Synonymous 13/19 - 1
17-40946663-TC-T c.2332del p.L778Sfs*157 Frameshift 13/19 - 2
17-40946672-C-A c.2336C>A p.P779Q Missense 13/19 - 1
17-40946674-G-A c.2338G>A p.D780N Missense 13/19 - 1
17-40946680-T-C c.2344T>C p.S782P Missense 13/19 - 1
17-40946684-A-G c.2348A>G p.N783S Missense 13/19 - 1
17-40946791-A-G c.2352A>G p.E784= Synonymous 14/19 - 1
17-40946792-G-A c.2353G>A p.E785K Missense 14/19 - 4
17-40946792-G-C c.2353G>C p.E785Q Missense 14/19 - 1
17-40946800-G-C c.2361G>C p.Q787H Missense 14/19 - 1
17-40946802-G-A c.2363G>A p.S788N Missense 14/19 - 1
17-40946804-A-T c.2365A>T p.S789C Missense 14/19 - 1
17-40946808-C-A c.2369C>A p.T790N Missense 14/19 - 8
17-40946811-C-G c.2372C>G p.S791C Missense 14/19 - 1
17-40946819-C-G c.2380C>G p.H794D Missense 14/19 - 2
17-40946821-C-G c.2382C>G p.H794Q Missense 14/19 - 2
17-40946822-AG-CA c.2383_2384delinsCA p.R795Q Missense 14/19 - 1
17-40946823-G-C c.2384G>C p.R795T Missense 14/19 - 4
17-40946832-C-T c.2393C>T p.T798I Missense 14/19 - 1
17-40946835-C-T c.2396C>T p.A799V Missense 14/19 - 1
17-40946840-T-C c.2401T>C p.S801P Missense 14/19 - 1
17-40946841-C-G c.2402C>G p.S801C Missense 14/19 - 1
17-40946850-C-T c.2411C>T p.S804L Missense 14/19 - 1
17-40946853-C-G c.2414C>G p.S805C Missense 14/19 - 1
17-40946851-ATCT-A c.2416_2418del p.S806del InFrameDeletion 14/19 - 2
17-40946858-C-T c.2419C>T p.P807S Missense 14/19 - 1
17-40946862-G-A c.2423G>A p.G808E Missense 14/19 - 1
17-40946862-G-C c.2423G>C p.G808A Missense 14/19 - 1
17-40946862-G-T c.2423G>T p.G808V Missense 14/19 - 1
17-40946864-A-C c.2425A>C p.T809P Missense 14/19 - 1
17-40946869-T-A c.2430T>A p.P810= Synonymous 14/19 - 1
17-40946873-T-C c.2434T>C p.S812P Missense 14/19 - 1
17-40946876-C-A c.2437C>A p.P813T Missense 14/19 - 1
17-40946877-C-T c.2438C>T p.P813L Missense 14/19 - 1
17-40946884-C-T c.2445C>T p.N815= Synonymous 14/19 - 1
17-40946890-T-A c.2451T>A p.F817L Missense 14/19 - 1
17-40946892-C-T c.2453C>T p.S818F Missense 14/19 - 4
17-40946895-C-T c.2456C>T p.P819L Missense 14/19 - 1
17-40946898-G-GC c.2459_2460insC p.T821Nfs*82 Frameshift 14/19 - 1
17-40946900-A-C c.2461A>C p.T821P Missense 14/19 - 1
17-40946901-C-T c.2462C>T p.T821I Missense 14/19 - 1
17-40946906-A-G c.2467A>G p.I823V Missense 14/19 - 1
17-40946910-C-A c.2471C>A p.S824Y Missense 14/19 - 1
17-40946910-C-G c.2471C>G p.S824C Missense 14/19 - 1
17-40946913-C-T c.2474C>T p.P825L Missense 14/19 - 2
17-40946914-A-C c.2475A>C p.P825= Synonymous 14/19 - 1
17-40946914-A-G c.2475A>G p.P825= Synonymous 14/19 - 1
17-40946914-A-T c.2475A>T p.P825= Synonymous 14/19 - 1
17-40946918-C-T c.2479C>T p.P827S Missense 14/19 - 1
17-40946919-C-T c.2480C>T p.P827L Missense 14/19 - 2
17-40946921-A-C c.2482A>C p.I828L Missense 14/19 - 1
17-40946924-T-A c.2485T>A p.F829I Missense 14/19 - 1
17-40946926-C-T c.2487C>T p.F829= Synonymous 14/19 - 1
17-40946930-A-C c.2491A>C p.I831L Missense 14/19 - 1
17-40946933-A-C c.2494A>C p.T832P Missense 14/19 - 2
17-40946933-A-G c.2494A>G p.T832A Missense 14/19 - 1
17-40946934-CT-TG c.2495_2496delinsTG p.T832M Missense 14/19 - 1
17-40946940-C-T c.2501C>T p.P834L Missense 14/19 - 1
17-40946944-A-C c.2505A>C p.P835= Synonymous 14/19 - 1
17-40946944-A-G c.2505A>G p.P835= Synonymous 14/19 - 1
17-40946944-A-T c.2505A>T p.P835= Synonymous 14/19 - 1
17-40946954-A-C c.2515A>C p.S839R Missense 14/19 - 3
17-40946956-C-A c.2517C>A p.S839R Missense 14/19 - 1
17-40946956-C-G c.2517C>G p.S839R Missense 14/19 - 1
17-40946960-T-C c.2521T>C p.S841P Missense 14/19 - 1
17-40946960-T-G c.2521T>G p.S841A Missense 14/19 - 1
17-40946963-C-T c.2524C>T p.P842S Missense 14/19 - 1
17-40946965-A-C c.2526A>C p.P842= Synonymous 14/19 - 2
17-40946965-A-G c.2526A>G p.P842= Synonymous 14/19 - 1
17-40946965-A-T c.2526A>T p.P842= Synonymous 14/19 - 1
17-40946966-T-C c.2527T>C p.F843L Missense 14/19 - 1
17-40946968-C-A c.2529C>A p.F843L Missense 14/19 - 1
17-40946968-C-G c.2529C>G p.F843L Missense 14/19 - 1
17-40946970-C-T c.2531C>T p.S844F Missense 14/19 - 1
17-40946972-C-A c.2533C>A p.P845T Missense 14/19 - 1
17-40946975-A-C c.2536A>C p.I846L Missense 14/19 - 1
17-40946976-T-A c.2537T>A p.I846N Missense 14/19 - 1
17-40946982-C-T c.2543C>T p.S848F Missense 14/19 - 1
17-40946984-C-T c.2545C>T p.Q849* Nonsense 14/19 - 3
17-40946985-A-C c.2546A>C p.Q849P Missense 14/19 - 1
17-40946986-G-C c.2547G>C p.Q849H Missense 14/19 - 1
17-40946986-G-T c.2547G>T p.Q849H Missense 14/19 - 1
17-40946987-G-A c.2548G>A p.V850I Missense 14/19 - 1
17-40946993-T-C c.2554T>C p.S852P Missense 14/19 - 1
17-40946994-C-A c.2555C>A p.S852* Nonsense 14/19 - 1
17-40946994-C-G c.2555C>G p.S852* Nonsense 14/19 - 1
17-40947000-C-T c.2561C>T p.P854L Missense 14/19 - 3
17-40947005-C-T c.2566C>T p.P856S Missense 14/19 - 2
17-40947007-A-C c.2568A>C p.P856= Synonymous 14/19 - 1
17-40947007-A-G c.2568A>G p.P856= Synonymous 14/19 - 1
17-40947007-A-T c.2568A>T p.P856= Synonymous 14/19 - 1
17-40947009-A-G c.2570A>G p.H857R Missense 14/19 - 1
17-40947011-C-A c.2572C>A p.P858T Missense 14/19 - 1
17-40947024-C-T c.2585C>T p.P862L Missense 14/19 - 3
17-40947026-C-G c.2587C>G p.L863V Missense 14/19 - 4
17-40947027-T-G c.2588T>G p.L863R Missense 14/19 - 1
17-40947029-C-T c.2590C>T p.P864S Missense 14/19 - 1
17-40947034-C-T c.2595C>T p.F865= Synonymous 14/19 - 2
17-40947041-A-C c.2602A>C p.S868R Missense 14/19 - 1
17-40947043-C-A c.2604C>A p.S868R Missense 14/19 - 1
17-40947043-C-G c.2604C>G p.S868R Missense 14/19 - 1
17-40947045-C-T c.2606C>T p.T869I Missense 14/19 - 1
17-40947047-C-T c.2608C>T p.P870S Missense 14/19 - 1
17-40947049-C-A c.2610C>A p.P870= Synonymous 14/19 - 2
17-40947049-C-G c.2610C>G p.P870= Synonymous 14/19 - 1
17-40947049-C-T c.2610C>T p.P870= Synonymous 14/19 - 1
17-40947050-G-A c.2611G>A p.E871K Missense 14/19 - 1
17-40947053-T-G c.2614T>G p.F872V Missense 14/19 - 4
17-40947059-G-A c.2620G>A p.V874I Missense 14/19 - 1
17-40947060-T-C c.2621T>C p.V874A Missense 14/19 - 1
17-40947077-C-T c.2638C>T p.P880S Missense 14/19 - 1
17-40947078-C-T c.2639C>T p.P880L Missense 14/19 - 1
17-40947084-G-C c.2645G>C p.S882T Missense 14/19 - 1
17-40947089-C-T c.2650C>T p.L884F Missense 14/19 - 1
17-40947095-A-G c.2656A>G p.T886A Missense 14/19 - 2
17-40947096-C-T c.2657C>T p.T886M Missense 14/19 - 2
17-40947097-G-A c.2658G>A p.T886= Synonymous 14/19 - 3
17-40947102-C-A c.2663C>A p.S888Y Missense 14/19 - 1
17-40947102-C-G c.2663C>G p.S888C Missense 14/19 - 1
17-40947107-C-G c.2668C>G p.P890A Missense 14/19 - 1
17-40947107-C-T c.2668C>T p.P890S Missense 14/19 - 1
17-40947111-C-T c.2672C>T p.T891M Missense 14/19 - 1
17-40947112-G-A c.2673G>A p.T891= Synonymous 14/19 - 1
17-40947117-TC-T c.2678del p.S893Ffs*42 Frameshift 14/19 - 1
17-40947119-C-G c.2680C>G p.P894A Missense 14/19 - 1
17-40947119-C-T c.2680C>T p.P894S Missense 14/19 - 1
17-40947123-C-T c.2684C>T p.T895I Missense 14/19 - 1
17-40947129-C-G c.2690C>G p.S897C Missense 14/19 - 1
17-40947134-G-T c.2695G>T p.V899F Missense 14/19 - 1
17-40947137-A-G c.2698A>G p.T900A Missense 14/19 - 2
17-40947143-AG-GC c.2704_2705delinsGC p.S902A Missense 14/19 - 4
17-40947143-A-T c.2704A>T p.S902C Missense 14/19 - 1
17-40947146-TC-T c.2711del p.P904Lfs*31 Frameshift 14/19 - 1
17-40947152-T-C c.2713T>C p.F905L Missense 14/19 - 1
17-40947154-C-T c.2715C>T p.F905= Synonymous 14/19 - 1
17-40947158-C-T c.2719C>T p.P907S Missense 14/19 - 1
17-40947159-C-T c.2720C>T p.P907L Missense 14/19 - 1
17-40947161-C-T c.2722C>T p.P908S Missense 14/19 - 1
17-40947163-G-A c.2724G>A p.P908= Synonymous 14/19 - 4
17-40947163-G-C c.2724G>C p.P908= Synonymous 14/19 - 4
17-40947166-C-A c.2727C>A p.C909* Nonsense 14/19 - 1
17-40947169-C-A c.2730C>A p.P910= Synonymous 14/19 - 1
17-40947169-C-G c.2730C>G p.P910= Synonymous 14/19 - 1
17-40947169-C-T c.2730C>T p.P910= Synonymous 14/19 - 1
17-40947172-C-A c.2733C>A p.S911= Synonymous 14/19 - 1
17-40947172-C-G c.2733C>G p.S911= Synonymous 14/19 - 1
17-40947172-C-T c.2733C>T p.S911= Synonymous 14/19 - 1
17-40947173-A-T c.2734A>T p.T912S Missense 14/19 - 1
17-40947177-C-T c.2738C>T p.S913F Missense 14/19 - 1
17-40947183-T-C c.2744T>C p.F915S Missense 14/19 - 1
17-40947187-C-T c.2748C>T p.P916= Synonymous 14/19 - 1
17-40947190-C-A c.2751C>A p.S917= Synonymous 14/19 - 1
17-40947190-C-G c.2751C>G p.S917= Synonymous 14/19 - 1
17-40947190-C-T c.2751C>T p.S917= Synonymous 14/19 - 1
17-40947192-C-T c.2753C>T p.T918I Missense 14/19 - 1
17-40947197-G-A c.2758G>A p.A920T Missense 14/19 - 1
17-40947204-C-T c.2765C>T p.P922L Missense 14/19 - 1
17-40947206-C-T c.2767C>T p.L923F Missense 14/19 - 1
17-40947207-T-C c.2768T>C p.L923P Missense 14/19 - 1
17-40947210-T-A c.2771T>A p.L924H Missense 14/19 - 1
17-40947212-TC-CT c.2773_2774delinsCT p.S925L Missense 14/19 - 1
17-40947213-C-T c.2774C>T p.S925F Missense 14/19 - 2
17-40947225-C-A c.2786C>A p.A929D Missense 14/19 - 1
17-40947238-T-A c.2799T>A p.A933= Synonymous 14/19 - 1
17-40947238-T-C c.2799T>C p.A933= Synonymous 14/19 - 1
17-40947238-T-G c.2799T>G p.A933= Synonymous 14/19 - 1
17-40947249-T-C c.2810T>C p.V937A Missense 14/19 - 1
17-40947258-C-T c.2819C>T p.S940F Missense 14/19 - 1
17-40947263-C-G c.2824C>G p.L942V Missense 14/19 - 1
17-40947267-C-T c.2828C>T p.S943F Missense 14/19 - 1
17-40947274-A-C c.2835A>C p.S945= Synonymous 14/19 - 1
17-40947274-A-G c.2835A>G p.S945= Synonymous 14/19 - 1
17-40947274-A-T c.2835A>T p.S945= Synonymous 14/19 - 1
17-40947275-C-T c.2836C>T p.P946S Missense 14/19 - 1
17-40947276-C-G c.2837C>G p.P946R Missense 14/19 - 1
17-40947276-C-T c.2837C>T p.P946L Missense 14/19 - 1
17-40947278-G-A c.2839G>A p.G947R Missense 14/19 - 1
17-40947280-G-A c.2841G>A p.G947= Synonymous 14/19 - 1
17-40947280-G-C c.2841G>C p.G947= Synonymous 14/19 - 1
17-40947280-G-T c.2841G>T p.G947= Synonymous 14/19 - 1
17-40947281-C-A c.2842C>A p.L948I Missense 14/19 - 1
17-40947281-C-T c.2842C>T p.L948F Missense 14/19 - 1
17-40947282-T-G c.2843T>G p.L948R Missense 14/19 - 1
17-40947311-A-C c.2872A>C p.S958R Missense 14/19 - 1
17-40947314-C-A c.2875C>A p.P959T Missense 14/19 - 1
17-40947318-T-G c.2879T>G p.L960R Missense 14/19 - 1
17-40947320-C-T c.2881C>T p.P961S Missense 14/19 - 10
17-40947322-T-A c.2883T>A p.P961= Synonymous 14/19 - 1
17-40947322-T-C c.2883T>C p.P961= Synonymous 14/19 - 1
17-40947322-T-G c.2883T>G p.P961= Synonymous 14/19 - 1
17-40947330-C-T c.2891C>T p.P964L Missense 14/19 - 1
17-40947332-C-G c.2893C>G p.L965V Missense 14/19 - 1
17-40947332-C-T c.2893C>T p.L965F Missense 14/19 - 2
17-40947333-T-C c.2894T>C p.L965P Missense 14/19 - 1
17-40947338-C-T c.2899C>T p.P967S Missense 14/19 - 2
17-40947339-C-T c.2900C>T p.P967L Missense 14/19 - 1
17-40947341-C-A c.2902C>A p.P968T Missense 14/19 - 1
17-40947344-G-A c.2905G>A p.V969I Missense 14/19 - 2
17-40947349-T-A c.2910T>A p.A970= Synonymous 14/19 - 4
17-40947354-G-C c.2915G>C p.G972A Missense 14/19 - 1
17-40947357-G-C c.2918G>C p.G973A Missense 14/19 - 1
17-40947361-G-A c.2922G>A p.Q974= Synonymous 14/19 - 1
17-40947366-G-A c.2927G>A p.S976N Missense 14/19 - 1
17-40947368-C-T c.2929C>T p.P977S Missense 14/19 - 1
17-40947369-C-T c.2930C>T p.P977L Missense 14/19 - 1
17-40947374-C-T c.2935C>T p.P979S Missense 14/19 - 2
17-40947379-C-A c.2940C>A p.H980Q Missense 14/19 - 1
17-40947379-C-G c.2940C>G p.H980Q Missense 14/19 - 1
17-40947387-A-G c.2948A>G p.E983G Missense 14/19 - 1
17-40947387-A-T c.2948A>T p.E983V Missense 14/19 - 2
17-40947396-G-A c.2957G>A p.S986N Missense 14/19 - 1
17-40947440-C-T c.2962-39C>T - IntronicSNV - 14/18 4
17-40947481-C-A c.2964C>A p.A988= Synonymous 15/19 - 1
17-40947481-C-G c.2964C>G p.A988= Synonymous 15/19 - 1
17-40947481-C-T c.2964C>T p.A988= Synonymous 15/19 - 1
17-40947489-C-A c.2972C>A p.P991H Missense 15/19 - 1
17-40947491-C-G c.2974C>G p.P992A Missense 15/19 - 1
17-40947491-C-T c.2974C>T p.P992S Missense 15/19 - 1
17-40947498-G-A c.2981G>A p.R994Q Missense 15/19 - 4
17-40947499-G-A c.2982G>A p.R994= Synonymous 15/19 - 1
17-40947503-C-A c.2986C>A p.L996I Missense 15/19 - 2
17-40947504-T-A c.2987T>A p.L996H Missense 15/19 - 1
17-40947524-G-A c.3007G>A p.A1003T Missense 15/19 - 2
17-40947525-C-G c.3008C>G p.A1003G Missense 15/19 - 1
17-40947525-C-T c.3008C>T p.A1003V Missense 15/19 - 5
17-40947527-C-T c.3010C>T p.P1004S Missense 15/19 - 2
17-40947539-G-A c.3022G>A p.E1008K Missense 15/19 - 2
17-40947645-G-C c.3025G>C p.G1009R Missense 16/19 - 1
17-40947652-C-G c.3032C>G p.P1011R Missense 16/19 - 2
17-40947652-C-T c.3032C>T p.P1011L Missense 16/19 - 1
17-40947653-G-A c.3033G>A p.P1011= Synonymous 16/19 - 1
17-40947654-C-A c.3034C>A p.Q1012K Missense 16/19 - 1
17-40947658-T-C c.3038T>C p.L1013P Missense 16/19 - 1
17-40947660-G-T c.3040G>T p.V1014F Missense 16/19 - 1
17-40947666-C-T c.3046C>T p.R1016C Missense 16/19 - 6
17-40947667-G-A c.3047G>A p.R1016H Missense 16/19 - 3
17-40947667-GT-AA c.3047_3048delinsAA p.R1016Q Missense 16/19 - 1
17-40947676-T-C c.3056T>C p.V1019A Missense 16/19 - 1
17-40947678-A-C c.3058A>C p.T1020P Missense 16/19 - 1
17-40947682-C-T c.3062C>T p.S1021L Missense 16/19 - 1
17-40947684-TC-AT c.3064_3065delinsAT p.S1022I Missense 16/19 - 1
17-40947690-G-A c.3070G>A p.E1024K Missense 16/19 - 4
17-40947694-C-A c.3074C>A p.P1025Q Missense 16/19 - 2
17-40947694-C-T c.3074C>T p.P1025L Missense 16/19 - 8
17-40947696-G-A c.3076G>A p.A1026T Missense 16/19 - 1
17-40947697-C-A c.3077C>A p.A1026D Missense 16/19 - 3
17-40947701-G-T c.3081G>T p.E1027D Missense 16/19 - 1
17-40947705-CT-AG c.3085_3086inv p.L1029S Missense 16/19 - 1
17-40947706-T-C c.3086T>C p.L1029P Missense 16/19 - 1
17-40947710-C-T c.3090C>T p.P1030= Synonymous 16/19 - 1
17-40947725-C-A c.3105C>A p.S1035= Synonymous 16/19 - 1
17-40947725-C-G c.3105C>G p.S1035= Synonymous 16/19 - 1
17-40947725-C-T c.3105C>T p.S1035= Synonymous 16/19 - 1
17-40947731-T-A c.3111T>A p.T1037= Synonymous 16/19 - 1
17-40947731-T-C c.3111T>C p.T1037= Synonymous 16/19 - 1
17-40947731-T-G c.3111T>G p.T1037= Synonymous 16/19 - 1
17-40947734-C-A c.3114C>A p.L1038= Synonymous 16/19 - 1
17-40947734-C-G c.3114C>G p.L1038= Synonymous 16/19 - 1
17-40947734-C-T c.3114C>T p.L1038= Synonymous 16/19 - 2
17-40947735-T-G c.3115T>G p.S1039A Missense 16/19 - 1
17-40947736-C-G c.3116C>G p.S1039C Missense 16/19 - 5
17-40947752-T-G c.3132T>G p.P1044= Synonymous 16/19 - 1
17-40947754-C-T c.3134C>T p.S1045L Missense 16/19 - 2
17-40947759-C-T c.3139C>T p.P1047S Missense 16/19 - 1
17-40947762-C-A c.3142C>A p.Q1048K Missense 16/19 - 1
17-40947767-C-A c.3147C>A p.L1049= Synonymous 16/19 - 1
17-40947767-C-G c.3147C>G p.L1049= Synonymous 16/19 - 1
17-40947767-C-T c.3147C>T p.L1049= Synonymous 16/19 - 2
17-40947774-G-A c.3154G>A p.E1052K Missense 16/19 - 2
17-40947786-A-C c.3166A>C p.T1056P Missense 16/19 - 1
17-40947786-ACAGAGGACAGTGCTGGAGGCGGGC-A c.3172_3195del p.D1058_E1065del InFrameDeletion 16/19 - 1
17-40947797-T-G c.3177T>G p.S1059R Missense 16/19 - 1
17-40947807-G-A c.3187G>A p.G1063R Missense 16/19 - 1
17-40947807-G-C c.3187G>C p.G1063R Missense 16/19 - 1
17-40947810-C-T c.3190C>T p.P1064S Missense 16/19 - 2
17-40947819-A-T c.3199A>T p.R1067W Missense 16/19 - 2
17-40947822-G-T c.3202G>T p.E1068* Nonsense 16/19 - 1
17-40947833-T-G c.3213T>G p.A1071= Synonymous 16/19 - 2
17-40947834-G-C c.3214G>C p.E1072Q Missense 16/19 - 3
17-40947835-A-G c.3215A>G p.E1072G Missense 16/19 - 2
17-40947839-C-T c.3219C>T p.S1073= Synonymous 16/19 - 1
17-40947841-A-G c.3221A>G p.D1074G Missense 16/19 - 2
17-40947843-C-T c.3223C>T p.R1075C Missense 16/19 - 2
17-40947844-G-A c.3224G>A p.R1075H Missense 16/19 - 2
17-40947847-C-T c.3227C>T p.A1076V Missense 16/19 - 1
17-40947849-G-A c.3229G>A p.A1077T Missense 16/19 - 3
17-40947855-G-A c.3235G>A p.G1079S Missense 16/19 - 1
17-40947865-C-A c.3245C>A p.A1082D Missense 16/19 - 1
17-40947868-G-C c.3248G>C p.G1083A Missense 16/19 - 1
17-40947870-G-A c.3250G>A p.V1084I Missense 16/19 - 1
17-40947871-T-C c.3251T>C p.V1084A Missense 16/19 - 3
17-40947871-T-G c.3251T>G p.V1084G Missense 16/19 - 1
17-40947872-TGAG-T c.3258_3260del p.E1087del InFrameDeletion 16/19 - 1
17-40947879-G-A c.3259G>A p.E1087K Missense 16/19 - 5
17-40947882-G-A c.3262G>A p.G1088R Missense 16/19 - 3
17-40947883-G-A c.3263G>A p.G1088E Missense 16/19 - 3
17-40947885-G-T c.3265G>T p.D1089Y Missense 16/19 - 3
17-40947888-GA-AT c.3268_3269delinsAT p.D1090I Missense 16/19 - 1
17-40947892-G-A c.3272G>A p.G1091E Missense 16/19 - 1
17-40947892-G-C c.3272G>C p.G1091A Missense 16/19 - 2
17-40947897-G-A c.3277G>A p.E1093K Missense 16/19 - 2
17-40947899-A-G c.3279A>G p.E1093= Synonymous 16/19 - 2
17-40947905-A-AG c.3286dup p.V1096Gfs*37 Frameshift 16/19 - 1
17-40947907-T-G c.3287T>G p.V1096G Missense 16/19 - 1
17-40947908-T-G c.3288T>G p.V1096= Synonymous 16/19 - 1
17-40947908-TG-T c.3293del p.G1098Afs*6 Frameshift 16/19 - 1
17-40947914-C-G c.3294C>G p.G1098= Synonymous 16/19 - 1
17-40947915-A-T c.3295A>T p.S1099C Missense 16/19 - 1
17-40947918-C-T c.3298C>T p.P1100S Missense 16/19 - 1
17-40947920-C-T c.3300C>T p.P1100= Synonymous 16/19 - 1
17-40947926-C-A c.3306C>A p.P1102= Synonymous 16/19 - 1
17-40947926-C-G c.3306C>G p.P1102= Synonymous 16/19 - 1
17-40947926-C-T c.3306C>T p.P1102= Synonymous 16/19 - 1
17-40947928-T-C c.3308T>C p.L1103P Missense 16/19 - 1
17-40947932-C-T c.3312C>T p.S1104= Synonymous 16/19 - 1
17-40947936-C-A c.3316C>A p.P1106T Missense 16/19 - 1
17-40947936-C-G c.3316C>G p.P1106A Missense 16/19 - 1
17-40947939-CA-C c.3319del p.S1107Afs*5 Frameshift 16/19 - 1
17-40947940-G-A c.3320G>A p.S1107N Missense 16/19 - 1
17-40947945-G-C c.3325G>C p.V1109L Missense 16/19 - 2
17-40947945-G-T c.3325G>T p.V1109L Missense 16/19 - 2
17-40947947-G-A c.3327G>A p.V1109= Synonymous 16/19 - 2
17-40947947-G-C c.3327G>C p.V1109= Synonymous 16/19 - 2
17-40947947-G-T c.3327G>T p.V1109= Synonymous 16/19 - 2
17-40947949-G-A c.3329G>A p.W1110* Nonsense 16/19 - 1
17-40947950-G-A c.3330G>A p.W1110* Nonsense 16/19 - 1
17-40947952-T-C c.3332T>C p.M1111T Missense 16/19 - 1
17-40947953-G-A c.3333G>A p.M1111I Missense 16/19 - 1
17-40947953-G-C c.3333G>C p.M1111I Missense 16/19 - 1
17-40947953-G-T c.3333G>T p.M1111I Missense 16/19 - 1
17-40947958-ACTC-A c.3341_3343del p.S1114del InFrameDeletion 16/19 - 3
17-40947964-A-G c.3344A>G p.Y1115C Missense 16/19 - 1
17-40947972-C-T c.3352C>T p.L1118= Synonymous 16/19 - 1
17-40947974-G-A c.3354G>A p.L1118= Synonymous 16/19 - 1
17-40947974-G-C c.3354G>C p.L1118= Synonymous 16/19 - 1
17-40947974-G-T c.3354G>T p.L1118= Synonymous 16/19 - 1
17-40947980-G-C c.3360G>C p.L1120F Missense 16/19 - 1
17-40947980-G-T c.3360G>T p.L1120F Missense 16/19 - 2
17-40947981-A-C c.3361A>C p.S1121R Missense 16/19 - 1
17-40947983-C-A c.3363C>A p.S1121R Missense 16/19 - 1
17-40947983-C-G c.3363C>G p.S1121R Missense 16/19 - 1
17-40947987-G-A c.3367G>A p.E1123K Missense 16/19 - 1
17-40947998-A-C c.3378A>C p.E1126D Missense 16/19 - 2
17-40947998-A-T c.3378A>T p.E1126D Missense 16/19 - 3
17-40948000-G-A c.3380G>A p.S1127N Missense 16/19 - 6
17-40948013-T-C c.3393T>C p.D1131= Synonymous 16/19 - 1
17-40948014-G-A c.3394G>A p.E1132K Missense 16/19 - 3
17-40948020-T-C c.3400T>C p.F1134L Missense 16/19 - 1
17-40948022-C-A c.3402C>A p.F1134L Missense 16/19 - 1
17-40948022-C-G c.3402C>G p.F1134L Missense 16/19 - 1
17-40948024-G-A c.3404G>A p.W1135* Nonsense 16/19 - 1
17-40948029-G-A c.3409G>A p.E1137K Missense 16/19 - 1
17-40948032-C-T c.3412C>T p.L1138= Synonymous 16/19 - 1
17-40948035-C-T c.3415C>T p.Q1139* Nonsense 16/19 - 1
17-40948039-G-A c.3419G>A p.S1140N Missense 16/19 - 1
17-40948040-T-C c.3420T>C p.S1140= Synonymous 16/19 - 1
17-40948041-C-G c.3421C>G p.L1141V Missense 16/19 - 1
17-40948044-C-T c.3424C>T p.R1142W Missense 16/19 - 6
17-40948045-G-A c.3425G>A p.R1142Q Missense 16/19 - 2
17-40948047-C-T c.3427C>T p.Q1143* Nonsense 16/19 - 2
17-40948142-CA-GC c.3433_3434delinsGC p.H1145A Missense 17/19 - 1
17-40948143-A-T c.3434A>T p.H1145L Missense 17/19 - 1
17-40948149-C-T c.3440C>T p.S1147L Missense 17/19 - 1
17-40948153-G-A c.3444G>A p.E1148= Synonymous 17/19 - 1
17-40948157-G-GA c.3451dup p.T1151Nfs*11 Frameshift 17/19 - 1
17-40948163-C-T c.3454C>T p.L1152= Synonymous 17/19 - 1
17-40948165-A-C c.3456A>C p.L1152= Synonymous 17/19 - 1
17-40948165-A-G c.3456A>G p.L1152= Synonymous 17/19 - 1
17-40948165-A-T c.3456A>T p.L1152= Synonymous 17/19 - 1
17-40948170-C-T c.3461C>T p.T1154I Missense 17/19 - 1
17-40948172-C-T c.3463C>T p.L1155= Synonymous 17/19 - 1
17-40948174-A-C c.3465A>C p.L1155= Synonymous 17/19 - 1
17-40948174-A-G c.3465A>G p.L1155= Synonymous 17/19 - 1
17-40948174-A-T c.3465A>T p.L1155= Synonymous 17/19 - 1
17-40948175-CA-GC c.3466_3467delinsGC p.Q1156A Missense 17/19 - 1
17-40948175-C-T c.3466C>T p.Q1156* Nonsense 17/19 - 1
17-40948177-G-GA c.3474dup p.E1159Rfs*3 Frameshift 17/19 - 1
17-40948183-A-T c.3474A>T p.K1158N Missense 17/19 - 2
17-40948184-G-A c.3475G>A p.E1159K Missense 17/19 - 3
17-40948184-G-T c.3475G>T p.E1159* Nonsense 17/19 - 1
17-40948188-T-C c.3479T>C p.I1160T Missense 17/19 - 1
17-40948189-T-G c.3480T>G p.I1160M Missense 17/19 - 1
17-40948193-G-C c.3484G>C p.D1162H Missense 17/19 - 1
17-40948194-A-G c.3485A>G p.D1162G Missense 17/19 - 1
17-40948198-G-C c.3489G>C p.L1163F Missense 17/19 - 1
17-40948197-TGTACAGCCGGCTGGGGAA-T c.3490_3507del p.Y1164_K1169del InFrameDeletion 17/19 - 2
17-40948202-A-C c.3493A>C p.S1165R Missense 17/19 - 1
17-40948204-C-A c.3495C>A p.S1165R Missense 17/19 - 3
17-40948204-C-G c.3495C>G p.S1165R Missense 17/19 - 2
17-40948205-C-T c.3496C>T p.R1166W Missense 17/19 - 2
17-40948200-ACAGCCGGCTGGGGAAG-A c.3497_3512del p.R1166Pfs*48 Frameshift 17/19 - 1
17-40948211-G-T c.3502G>T p.G1168W Missense 17/19 - 1
17-40948212-G-A c.3503G>A p.G1168E Missense 17/19 - 1
17-40948213-G-A c.3504G>A p.G1168= Synonymous 17/19 - 2
17-40948214-A-G c.3505A>G p.K1169E Missense 17/19 - 4
17-40948219-G-A c.3510G>A p.Q1170= Synonymous 17/19 - 2
17-40948227-C-A c.3518C>A p.P1173Q Missense 17/19 - 1
17-40948227-C-T c.3518C>T p.P1173L Missense 17/19 - 1
17-40948228-G-A c.3519G>A p.P1173= Synonymous 17/19 - 1
17-40948233-T-C c.3524T>C p.I1175T Missense 17/19 - 1
17-40948237-G-A c.3528G>A p.V1176= Synonymous 17/19 - 2
17-40948237-G-C c.3528G>C p.V1176= Synonymous 17/19 - 1
17-40948237-G-T c.3528G>T p.V1176= Synonymous 17/19 - 1
17-40948244-G-T c.3535G>T p.A1179S Missense 17/19 - 1
17-40948251-T-G c.3542T>G p.M1181R Missense 17/19 - 1
17-40948252-G-A c.3543G>A p.M1181I Missense 17/19 - 1
17-40948252-G-C c.3543G>C p.M1181I Missense 17/19 - 1
17-40948252-GC-AG c.3543_3544delinsAG p.M1181_L1182delinsIV MultiAAMissense 17/19 - 1
17-40948252-G-T c.3543G>T p.M1181I Missense 17/19 - 1
17-40948253-C-G c.3544C>G p.L1182V Missense 17/19 - 1
17-40948259-A-T c.3550A>T p.S1184C Missense 17/19 - 1
17-40948262-C-A c.3553C>A p.R1185S Missense 17/19 - 1
17-40948262-C-T c.3553C>T p.R1185C Missense 17/19 - 25
17-40948263-G-A c.3554G>A p.R1185H Missense 17/19 - 1
17-40948269-G-A c.3560G>A p.R1187H Missense 17/19 - 1
17-40948272-G-A c.3563G>A p.R1188H Missense 17/19 - 3
17-40948274-CT-AG c.3565_3566inv p.L1189S Missense 17/19 - 1
17-40948277-TC-GA c.3568_3569inv p.S1190D Missense 17/19 - 1
17-40948277-T-G c.3568T>G p.S1190A Missense 17/19 - 1
17-40948279-C-A c.3570C>A p.S1190= Synonymous 17/19 - 1
17-40948279-C-G c.3570C>G p.S1190= Synonymous 17/19 - 1
17-40948279-C-T c.3570C>T p.S1190= Synonymous 17/19 - 1
17-40948283-G-A c.3574G>A p.G1192S Missense 17/19 - 2
17-40948290-T-C c.3581T>C p.F1194S Missense 17/19 - 1
17-40948301-C-T c.3592C>T p.R1198C Missense 17/19 - 2
17-40948302-G-A c.3593G>A p.R1198H Missense 17/19 - 1
17-40948304-C-A c.3595C>A p.R1199S Missense 17/19 - 3
17-40948310-AG-GA c.3601_3602delinsGA p.S1201D Missense 17/19 - 1
17-40948310-AG-GC c.3601_3602delinsGC p.S1201A Missense 17/19 - 1
17-40948313-C-A c.3604C>A p.L1202I Missense 17/19 - 1
17-40948317-A-G c.3608A>G p.Q1203R Missense 17/19 - 1
17-40948317-A-T c.3608A>T p.Q1203L Missense 17/19 - 1
17-40948319-C-G c.3610C>G p.R1204G Missense 17/19 - 1
17-40948319-CGC-TGG c.3610_3612delinsTGG p.R1204W Missense 17/19 - 1
17-40948319-C-T c.3610C>T p.R1204C Missense 17/19 - 4
17-40948323-C-G c.3614C>G p.S1205C Missense 17/19 - 1
17-40948326-A-G c.3617A>G p.E1206G Missense 17/19 - 1
17-40948331-C-T c.3622C>T p.P1208S Missense 17/19 - 1
17-40948327-G-GC c.3623dup p.G1209Rfs*63 Frameshift 17/19 - 1
17-40948332-C-A c.3623C>A p.P1208Q Missense 17/19 - 1
17-40948332-C-T c.3623C>T p.P1208L Missense 17/19 - 1
17-40948335-G-A c.3626G>A p.G1209D Missense 17/19 - 1
17-40948337-C-A c.3628C>A p.P1210T Missense 17/19 - 1
17-40948373-C-T c.3631+33C>T - IntronicSNV - 17/18 1
17-40948499-G-A c.3632G>A p.G1211D Missense 18/19 - 1
17-40948499-G-C c.3632G>C p.G1211A Missense 18/19 - 1
17-40948502-T-A c.3635T>A p.I1212N Missense 18/19 - 3
17-40948511-G-T c.3644G>T p.R1215M Missense 18/19 - 1
17-40948510-A-C c.3643A>C p.R1215= Synonymous 18/19 - 1
17-40948512-G-A c.3645G>A p.R1215= Synonymous 18/19 - 3
17-40948516-T-G c.3649T>G p.S1217A Missense 18/19 - 1
17-40948525-G-T c.3658G>T p.G1220C Missense 18/19 - 1
17-40948526-G-T c.3659G>T p.G1220V Missense 18/19 - 1
17-40948528-A-G c.3661A>G p.S1221G Missense 18/19 - 1
17-40948528-A-C c.3661A>C p.S1221R Missense 18/19 - 1
17-40948530-C-A c.3663C>A p.S1221R Missense 18/19 - 1
17-40948530-C-G c.3663C>G p.S1221R Missense 18/19 - 1
17-40948532-G-C c.3665G>C p.S1222T Missense 18/19 - 5
17-40948532-G-T c.3665G>T p.S1222I Missense 18/19 - 1
17-40948534-A-T c.3667A>T p.T1223S Missense 18/19 - 1
17-40948536-C-A c.3669C>A p.T1223= Synonymous 18/19 - 1
17-40948536-C-G c.3669C>G p.T1223= Synonymous 18/19 - 1
17-40948536-C-T c.3669C>T p.T1223= Synonymous 18/19 - 2
17-40948537-G-T c.3670G>T p.G1224C Missense 18/19 - 2
17-40948538-G-A c.3671G>A p.G1224D Missense 18/19 - 2
17-40948538-G-C c.3671G>C p.G1224A Missense 18/19 - 1
17-40948543-C-A c.3676C>A p.Q1226K Missense 18/19 - 1
17-40948546-G-A c.3679G>A p.E1227K Missense 18/19 - 1
17-40948547-A-G c.3680A>G p.E1227G Missense 18/19 - 1
17-40948552-C-T c.3685C>T p.R1229W Missense 18/19 - 2
17-40948553-G-A c.3686G>A p.R1229Q Missense 18/19 - 1
17-40948556-C-T c.3689C>T p.A1230V Missense 18/19 - 1
17-40948557-A-C c.3690A>C p.A1230= Synonymous 18/19 - 1
17-40948557-A-G c.3690A>G p.A1230= Synonymous 18/19 - 1
17-40948557-A-T c.3690A>T p.A1230= Synonymous 18/19 - 1
17-40948558-A-G c.3691A>G p.S1231G Missense 18/19 - 1
17-40948558-A-C c.3691A>C p.S1231R Missense 18/19 - 3
17-40948560-C-A c.3693C>A p.S1231R Missense 18/19 - 4
17-40948560-C-G c.3693C>G p.S1231R Missense 18/19 - 7
17-40948563-G-T c.3696G>T p.K1232N Missense 18/19 - 1
17-40948566-G-GTA c.3699_3700insTA p.V1234* Nonsense 18/19 - 1
17-40948562-AG-A c.3700del p.V1234* Frameshift 18/19 - 2
17-40948567-GT-TA c.3700_3701delinsTA p.V1234* Nonsense 18/19 - 2
17-40948568-T-C c.3701T>C p.V1234A Missense 18/19 - 1
17-40948569-G-C c.3702G>C p.V1234= Synonymous 18/19 - 3
17-40948573-T-G c.3706T>G p.F1236V Missense 18/19 - 1
17-40948574-T-C c.3707T>C p.F1236S Missense 18/19 - 2
17-40948576-G-A c.3709G>A p.A1237T Missense 18/19 - 1
17-40948576-G-T c.3709G>T p.A1237S Missense 18/19 - 1
17-40948578-C-T c.3711C>T p.A1237= Synonymous 18/19 - 1
17-40948579-G-A c.3712G>A p.G1238R Missense 18/19 - 2
17-40948579-G-T c.3712G>T p.G1238W Missense 18/19 - 1
17-40948586-T-A c.3719T>A p.V1240D Missense 18/19 - 1
17-40948588-G-A c.3721G>A p.G1241S Missense 18/19 - 1
17-40948588-G-C c.3721G>C p.G1241R Missense 18/19 - 1
17-40948589-G-A c.3722G>A p.G1241D Missense 18/19 - 1
17-40948593-G-A c.3726G>A p.R1242= Synonymous 18/19 - 2
17-40948596-G-A c.3729G>A p.M1243I Missense 18/19 - 1
17-40948624-C-T c.3729+28C>T - IntronicSNV - 18/18 1
17-40948712-G-A c.*6G>A - 3-UTRSNV 19/19 - 2