SPATA20

SPATA20 spermatogenesis associated 20

Annotation transcript: NM_022827.4

809 unique variant annotations were identified in 370 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
17-48624582-C-T c.13C>T p.R5W Missense 1/17 - 1
17-48624587-C-A c.18C>A p.A6= Synonymous 1/17 - 1
17-48624587-C-G c.18C>G p.A6= Synonymous 1/17 - 1
17-48624587-C-T c.18C>T p.A6= Synonymous 1/17 - 1
17-48624588-T-G c.19T>G p.W7G Missense 1/17 - 1
17-48624589-G-A c.20G>A p.W7* Nonsense 1/17 - 1
17-48624592-T-C c.23T>C p.L8S Missense 1/17 - 1
17-48624593-G-GA c.24_25insA p.G9Rfs*36 Frameshift 1/17 - 1
17-48624594-G-C c.25G>C p.G9R Missense 1/17 - 1
17-48624595-G-A c.26G>A p.G9D Missense 1/17 - 2
17-48624597-C-T c.28C>T p.R10C Missense 1/17 - 1
17-48624598-G-A c.29G>A p.R10H Missense 1/17 - 2
17-48624603-C-T c.34C>T p.L12F Missense 1/17 - 1
17-48624617-C-T c.48C>T p.R16= Synonymous 1/17 - 1
17-48624618-G-A c.49G>A p.A17T Missense 1/17 - 1
17-48624618-GCC-ATG c.49_51delinsATG p.A17M Missense 1/17 - 1
17-48624618-GCC-CAA c.49_51delinsCAA p.A17Q Missense 1/17 - 2
17-48624618-GC-TT c.49_50delinsTT p.A17F Missense 1/17 - 1
17-48624619-C-T c.50C>T p.A17V Missense 1/17 - 1
17-48624624-G-C c.55G>C p.A19P Missense 1/17 - 1
17-48624625-C-A c.56C>A p.A19E Missense 1/17 - 3
17-48624626-A-C c.57A>C p.A19= Synonymous 1/17 - 1
17-48624626-A-G c.57A>G p.A19= Synonymous 1/17 - 1
17-48624626-A-T c.57A>T p.A19= Synonymous 1/17 - 1
17-48624630-C-T c.61C>T p.L21F Missense 1/17 - 1
17-48624633-G-A c.64G>A p.A22T Missense 1/17 - 1
17-48624634-C-A c.65C>A p.A22D Missense 1/17 - 1
17-48624635-C-G c.66C>G p.A22= Synonymous 1/17 - 1
17-48624636-GC-AT c.67_68delinsAT p.A23M Missense 1/17 - 2
17-48624638-G-A c.69G>A p.A23= Synonymous 1/17 - 1
17-48624643-G-A c.74G>A p.R25H Missense 1/17 - 1
17-48624653-G-T c.77+7G>T - IntronicSNV - 1/16 1
17-48624769-C-T c.77+123C>T - IntronicSNV - 1/16 1
17-48625060-C-T c.78-21C>T - IntronicSNV - 1/16 1
17-48625082-T-A c.79T>A p.C27S Missense 2/17 - 2
17-48625083-G-C c.80G>C p.C27S Missense 2/17 - 3
17-48625083-GTCC-G c.82_84del p.P28del InFrameDeletion 2/17 - 1
17-48625090-A-C c.87A>C p.G29= Synonymous 2/17 - 1
17-48625090-A-G c.87A>G p.G29= Synonymous 2/17 - 1
17-48625090-A-T c.87A>T p.G29= Synonymous 2/17 - 1
17-48625095-G-T c.92G>T p.W31L Missense 2/17 - 1
17-48625100-A-G c.97A>G p.R33G Missense 2/17 - 1
17-48625107-G-A c.104G>A p.W35* Nonsense 2/17 - 2
17-48625107-G-C c.104G>C p.W35S Missense 2/17 - 1
17-48625108-G-A c.105G>A p.W35* Nonsense 2/17 - 1
17-48625110-C-T c.107C>T p.P36L Missense 2/17 - 1
17-48625118-AG-CT c.115_116inv p.S39L Missense 2/17 - 1
17-48625119-G-T c.116G>T p.S39I Missense 2/17 - 1
17-48625120-T-C c.117T>C p.S39= Synonymous 2/17 - 1
17-48625128-G-A c.125G>A p.R42K Missense 2/17 - 1
17-48625223-C-T c.125+95C>T - IntronicSNV - 2/16 1
17-48625319-T-G c.125+191T>G - IntronicSNV - 2/16 2
17-48625543-G-A c.126-101G>A - IntronicSNV - 2/16 9
17-48625643-G-C c.126-1G>C - IntronicSNV - 2/16 1
17-48625127-A-C c.124A>C p.R42= Synonymous 2/17 - 1
17-48625644-G-A c.126G>A p.R42= Synonymous 3/17 - 1
17-48625647-T-A c.129T>A p.G43= Synonymous 3/17 - 1
17-48625647-T-C c.129T>C p.G43= Synonymous 3/17 - 1
17-48625647-T-G c.129T>G p.G43= Synonymous 3/17 - 1
17-48625648-AG-TT c.130_131delinsTT p.S44F Missense 3/17 - 1
17-48625649-GCTC-G c.136_138del p.S46del InFrameDeletion 3/17 - 1
17-48625655-C-T c.137C>T p.S46F Missense 3/17 - 2
17-48625657-CGG-AGC c.139_141delinsAGC p.R47S Missense 3/17 - 1
17-48625657-CGG-TGT c.139_141delinsTGT p.R47C Missense 3/17 - 1
17-48625660-G-A c.142G>A p.D48N Missense 3/17 - 1
17-48625666-G-A c.148G>A p.D50N Missense 3/17 - 2
17-48625669-C-T c.151C>T p.R51* Nonsense 3/17 - 2
17-48625672-AG-TT c.154_155delinsTT p.S52F Missense 3/17 - 1
17-48625672-A-C c.154A>C p.S52R Missense 3/17 - 1
17-48625674-T-A c.156T>A p.S52R Missense 3/17 - 1
17-48625674-T-G c.156T>G p.S52R Missense 3/17 - 1
17-48625675-G-A c.157G>A p.A53T Missense 3/17 - 2
17-48625676-C-T c.158C>T p.A53V Missense 3/17 - 1
17-48625677-G-A c.159G>A p.A53= Synonymous 3/17 - 1
17-48625679-C-T c.161C>T p.T54M Missense 3/17 - 2
17-48625683-C-T c.165C>T p.V55= Synonymous 3/17 - 1
17-48625690-T-G c.172T>G p.S58A Missense 3/17 - 2
17-48625691-C-T c.173C>T p.S58L Missense 3/17 - 1
17-48625697-C-T c.179C>T p.P60L Missense 3/17 - 1
17-48625701-G-A c.183G>A p.M61I Missense 3/17 - 2
17-48625701-G-C c.183G>C p.M61I Missense 3/17 - 1
17-48625701-G-T c.183G>T p.M61I Missense 3/17 - 1
17-48625713-G-GT c.195_196insT p.K66* Nonsense 3/17 - 1
17-48625720-A-G c.202A>G p.S68G Missense 3/17 - 1
17-48625720-A-C c.202A>C p.S68R Missense 3/17 - 1
17-48625722-C-A c.204C>A p.S68R Missense 3/17 - 1
17-48625722-C-G c.204C>G p.S68R Missense 3/17 - 1
17-48625726-C-T c.208C>T p.P70S Missense 3/17 - 2
17-48625725-TC-T c.209del p.P70Lfs*12 Frameshift 3/17 - 1
17-48625730-C-T c.212C>T p.S71L Missense 3/17 - 1
17-48625731-A-G c.213A>G p.S71= Synonymous 3/17 - 1
17-48625735-A-C c.217A>C p.T73P Missense 3/17 - 1
17-48625735-ACA-TGT c.217_219inv p.T73C Missense 3/17 - 1
17-48625739-C-T c.221C>T p.P74L Missense 3/17 - 1
17-48625741-C-T c.223C>T p.Q75* Nonsense 3/17 - 1
17-48625742-A-G c.224A>G p.Q75R Missense 3/17 - 1
17-48625744-AG-A c.229del p.V77Sfs*5 Frameshift 3/17 - 1
17-48625751-C-T c.233C>T p.P78L Missense 3/17 - 1
17-48625753-A-G c.235A>G p.N79D Missense 3/17 - 8
17-48625754-A-G c.236A>G p.N79S Missense 3/17 - 2
17-48625755-C-T c.237C>T p.N79= Synonymous 3/17 - 1
17-48625757-G-A c.239G>A p.R80H Missense 3/17 - 4
17-48625757-GC-AA c.239_240delinsAA p.R80Q Missense 3/17 - 2
17-48625758-C-G c.240C>G p.R80= Synonymous 3/17 - 1
17-48625759-C-T c.241C>T p.L81= Synonymous 3/17 - 1
17-48625761-G-A c.243G>A p.L81= Synonymous 3/17 - 1
17-48625761-G-C c.243G>C p.L81= Synonymous 3/17 - 1
17-48625761-G-T c.243G>T p.L81= Synonymous 3/17 - 1
17-48625762-A-C c.244A>C p.I82L Missense 3/17 - 1
17-48625763-T-A c.245T>A p.I82N Missense 3/17 - 1
17-48625764-C-G c.246C>G p.I82M Missense 3/17 - 1
17-48625765-C-A c.247C>A p.H83N Missense 3/17 - 1
17-48625765-C-G c.247C>G p.H83D Missense 3/17 - 1
17-48625766-A-G c.248A>G p.H83R Missense 3/17 - 1
17-48625768-G-A c.250G>A p.E84K Missense 3/17 - 2
17-48625775-CA-TT c.257_258delinsTT p.S86F Missense 3/17 - 1
17-48625780-T-C c.262T>C p.Y88H Missense 3/17 - 1
17-48625795-G-A c.277G>A p.A93T Missense 3/17 - 1
17-48625796-C-T c.278C>T p.A93V Missense 3/17 - 3
17-48625799-A-G c.281A>G p.Y94C Missense 3/17 - 1
17-48625801-A-G c.283A>G p.N95D Missense 3/17 - 10
17-48625802-A-G c.284A>G p.N95S Missense 3/17 - 1
17-48625805-C-A c.287C>A p.P96H Missense 3/17 - 1
17-48625805-C-T c.287C>T p.P96L Missense 3/17 - 1
17-48625808-TG-T c.292del p.D98Tfs*34 Frameshift 3/17 - 1
17-48625828-C-G c.296+14C>G - IntronicSNV - 3/16 8
17-48625828-C-T c.296+14C>T - IntronicSNV - 3/16 9
17-48625911-C-G c.297-4C>G - IntronicSNV - 3/16 1
17-48625911-C-T c.297-4C>T - IntronicSNV - 3/16 1
17-48625923-G-A c.305G>A p.W102* Nonsense 4/17 - 2
17-48625924-G-A c.306G>A p.W102* Nonsense 4/17 - 2
17-48625928-C-G c.310C>G p.Q104E Missense 4/17 - 35
17-48625930-G-A c.312G>A p.Q104= Synonymous 4/17 - 2
17-48625931-G-A c.313G>A p.E105K Missense 4/17 - 1
17-48625938-TC-AA c.320_321delinsAA p.F107* Nonsense 4/17 - 1
17-48625940-G-A c.322G>A p.D108N Missense 4/17 - 1
17-48625943-A-C c.325A>C p.K109Q Missense 4/17 - 2
17-48625946-G-A c.328G>A p.A110T Missense 4/17 - 2
17-48625948-C-CT c.330_331insT p.R111* Nonsense 4/17 - 1
17-48625949-A-T c.331A>T p.R111W Missense 4/17 - 1
17-48625950-G-A c.332G>A p.R111K Missense 4/17 - 1
17-48625960-C-A c.342C>A p.N114K Missense 4/17 - 1
17-48625960-C-G c.342C>G p.N114K Missense 4/17 - 1
17-48625961-A-G c.343A>G p.K115E Missense 4/17 - 1
17-48625962-A-G c.344A>G p.K115R Missense 4/17 - 1
17-48625965-C-T c.347C>T p.P116L Missense 4/17 - 1
17-48625966-G-A c.348G>A p.P116= Synonymous 4/17 - 1
17-48625966-G-C c.348G>C p.P116= Synonymous 4/17 - 1
17-48625966-G-T c.348G>T p.P116= Synonymous 4/17 - 1
17-48625970-T-G c.352T>G p.F118V Missense 4/17 - 1
17-48625975-C-A c.357C>A p.L119= Synonymous 4/17 - 1
17-48625975-C-G c.357C>G p.L119= Synonymous 4/17 - 1
17-48625975-C-T c.357C>T p.L119= Synonymous 4/17 - 1
17-48625977-C-T c.359C>T p.S120L Missense 4/17 - 1
17-48625979-G-A c.361G>A p.V121I Missense 4/17 - 1
17-48626172-C-A c.363C>A p.V121= Synonymous 5/17 - 1
17-48626172-C-G c.363C>G p.V121= Synonymous 5/17 - 1
17-48626172-C-T c.363C>T p.V121= Synonymous 5/17 - 1
17-48626181-C-T c.372C>T p.S124= Synonymous 5/17 - 1
17-48626182-A-C c.373A>C p.T125P Missense 5/17 - 3
17-48626187-C-T c.378C>T p.C126= Synonymous 5/17 - 1
17-48626195-G-A c.386G>A p.C129Y Missense 5/17 - 1
17-48626226-T-A c.417T>A p.N139K Missense 5/17 - 1
17-48626229-G-A c.420G>A p.E140= Synonymous 5/17 - 1
17-48626232-G-C c.423G>C p.E141D Missense 5/17 - 2
17-48626232-G-T c.423G>T p.E141D Missense 5/17 - 2
17-48626233-A-G c.424A>G p.I142V Missense 5/17 - 2
17-48626234-T-C c.425T>C p.I142T Missense 5/17 - 1
17-48626236-G-C c.427G>C p.G143R Missense 5/17 - 1
17-48626238-C-A c.429C>A p.G143= Synonymous 5/17 - 1
17-48626238-C-G c.429C>G p.G143= Synonymous 5/17 - 1
17-48626238-C-T c.429C>T p.G143= Synonymous 5/17 - 1
17-48626239-C-G c.430C>G p.R144G Missense 5/17 - 2
17-48626239-CGC-TGG c.430_432delinsTGG p.R144W Missense 5/17 - 2
17-48626239-C-T c.430C>T p.R144C Missense 5/17 - 1
17-48626240-G-A c.431G>A p.R144H Missense 5/17 - 1
17-48626242-C-T c.433C>T p.L145= Synonymous 5/17 - 1
17-48626244-G-A c.435G>A p.L145= Synonymous 5/17 - 1
17-48626244-G-C c.435G>C p.L145= Synonymous 5/17 - 1
17-48626244-G-T c.435G>T p.L145= Synonymous 5/17 - 1
17-48626255-A-G c.446A>G p.D149G Missense 5/17 - 1
17-48626263-A-G c.454A>G p.S152G Missense 5/17 - 1
17-48626269-A-C c.460A>C p.K154Q Missense 5/17 - 1
17-48626270-A-G c.461A>G p.K154R Missense 5/17 - 1
17-48626271-G-C c.462G>C p.K154N Missense 5/17 - 1
17-48626271-G-T c.462G>T p.K154N Missense 5/17 - 1
17-48626277-C-T c.468C>T p.D156= Synonymous 5/17 - 1
17-48626287-C-A c.478C>A p.R160= Synonymous 5/17 - 1
17-48626287-C-T c.478C>T p.R160W Missense 5/17 - 3
17-48626293-G-A c.484G>A p.D162N Missense 5/17 - 1
17-48626295-C-A c.486C>A p.D162E Missense 5/17 - 1
17-48626295-C-T c.486C>T p.D162= Synonymous 5/17 - 1
17-48626296-G-A c.487G>A p.V163M Missense 5/17 - 1
17-48626299-G-A c.490G>A p.D164N Missense 5/17 - 1
17-48626305-G-A c.496G>A p.V166M Missense 5/17 - 2
17-48626309-A-G c.500A>G p.Y167C Missense 5/17 - 2
17-48626315-C-T c.506C>T p.T169M Missense 5/17 - 3
17-48626316-G-A c.507G>A p.T169= Synonymous 5/17 - 1
17-48626316-G-T c.507G>T p.T169= Synonymous 5/17 - 1
17-48626319-C-T c.510C>T p.F170= Synonymous 5/17 - 1
17-48626389-C-T c.517-15C>T - IntronicSNV - 5/16 7
17-48626398-C-T c.517-6C>T - IntronicSNV - 5/16 9
17-48626410-A-T c.523A>T p.S175C Missense 6/17 - 1
17-48626413-A-G c.526A>G p.S176G Missense 6/17 - 1
17-48626413-AG-CT c.526_527inv p.S176L Missense 6/17 - 1
17-48626414-G-T c.527G>T p.S176I Missense 6/17 - 1
17-48626415-C-T c.528C>T p.S176= Synonymous 6/17 - 1
17-48626416-G-A c.529G>A p.G177S Missense 6/17 - 1
17-48626416-G-T c.529G>T p.G177C Missense 6/17 - 1
17-48626419-G-A c.532G>A p.G178R Missense 6/17 - 1
17-48626420-G-A c.533G>A p.G178E Missense 6/17 - 1
17-48626426-G-A c.539G>A p.W180* Nonsense 6/17 - 1
17-48626427-G-A c.540G>A p.W180* Nonsense 6/17 - 1
17-48626428-C-T c.541C>T p.P181S Missense 6/17 - 2
17-48626442-G-C c.555G>C p.W185C Missense 6/17 - 1
17-48626442-G-T c.555G>T p.W185C Missense 6/17 - 1
17-48626444-T-C c.557T>C p.L186P Missense 6/17 - 3
17-48626445-G-A c.558G>A p.L186= Synonymous 6/17 - 1
17-48626450-C-G c.563C>G p.P188R Missense 6/17 - 1
17-48626453-AC-A c.568del p.L190Sfs*16 Frameshift 6/17 - 1
17-48626458-C-T c.571C>T p.Q191* Nonsense 6/17 - 3
17-48626461-C-T c.574C>T p.P192S Missense 6/17 - 1
17-48626462-C-T c.575C>T p.P192L Missense 6/17 - 2
17-48626463-C-A c.576C>A p.P192= Synonymous 6/17 - 1
17-48626474-G-T c.587G>T p.G196V Missense 6/17 - 1
17-48626475-C-A c.588C>A p.G196= Synonymous 6/17 - 1
17-48626475-C-G c.588C>G p.G196= Synonymous 6/17 - 1
17-48626475-C-T c.588C>T p.G196= Synonymous 6/17 - 1
17-48626477-C-T c.590C>T p.T197I Missense 6/17 - 1
17-48626480-A-G c.593A>G p.Y198C Missense 6/17 - 1
17-48626484-C-T c.597C>T p.F199= Synonymous 6/17 - 1
17-48626486-C-T c.599C>T p.P200L Missense 6/17 - 2
17-48626491-G-A c.604G>A p.E202K Missense 6/17 - 1
17-48626493-G-A c.606G>A p.E202= Synonymous 6/17 - 2
17-48626494-G-A c.607G>A p.D203N Missense 6/17 - 1
17-48626496-T-A c.609T>A p.D203E Missense 6/17 - 1
17-48626496-T-G c.609T>G p.D203E Missense 6/17 - 1
17-48626502-G-A c.615G>A p.L205= Synonymous 6/17 - 1
17-48626507-G-A c.620G>A p.R207Q Missense 6/17 - 1
17-48626509-G-T c.622G>T p.V208F Missense 6/17 - 3
17-48626511-C-A c.624C>A p.V208= Synonymous 6/17 - 2
17-48626511-C-G c.624C>G p.V208= Synonymous 6/17 - 1
17-48626511-C-T c.624C>T p.V208= Synonymous 6/17 - 3
17-48626513-GC-AG c.626_627delinsAG p.G209E Missense 6/17 - 1
17-48626516-T-C c.629T>C p.F210S Missense 6/17 - 1
17-48626518-C-T c.631C>T p.R211C Missense 6/17 - 1
17-48626519-G-A c.632G>A p.R211H Missense 6/17 - 1
17-48626520-C-T c.633C>T p.R211= Synonymous 6/17 - 1
17-48626522-C-A c.635C>A p.T212K Missense 6/17 - 1
17-48626522-C-T c.635C>T p.T212I Missense 6/17 - 1
17-48626523-A-G c.636A>G p.T212= Synonymous 6/17 - 1
17-48626525-T-C c.638T>C p.V213A Missense 6/17 - 1
17-48626527-T-A c.640T>A p.L214M Missense 6/17 - 1
17-48626533-AGA-CAT c.646_648delinsCAT p.R216H Missense 6/17 - 1
17-48626535-A-C c.648A>C p.R216S Missense 6/17 - 1
17-48626535-A-T c.648A>T p.R216S Missense 6/17 - 2
17-48626538-A-G c.651A>G p.I217M Missense 6/17 - 1
17-48626539-CGA-TGT c.652_654delinsTGT p.R218C Missense 6/17 - 1
17-48626540-G-A c.653G>A p.R218Q Missense 6/17 - 1
17-48626547-G-T c.660G>T p.Q220H Missense 6/17 - 1
17-48626575-C-T c.660+28C>T - IntronicSNV - 6/16 6
17-48626626-G-A c.661-21G>A - IntronicSNV - 6/16 6
17-48626653-C-T c.667C>T p.Q223* Nonsense 7/17 - 1
17-48626654-A-G c.668A>G p.Q223R Missense 7/17 - 1
17-48626669-T-A c.683T>A p.L228Q Missense 7/17 - 1
17-48626668-C-T c.682C>T p.L228= Synonymous 7/17 - 1
17-48626670-G-A c.684G>A p.L228= Synonymous 7/17 - 1
17-48626670-G-C c.684G>C p.L228= Synonymous 7/17 - 1
17-48626670-G-T c.684G>T p.L228= Synonymous 7/17 - 1
17-48626674-G-A c.688G>A p.E230K Missense 7/17 - 1
17-48626679-T-C c.693T>C p.N231= Synonymous 7/17 - 1
17-48626681-G-T c.695G>T p.S232I Missense 7/17 - 1
17-48626686-C-A c.700C>A p.R234S Missense 7/17 - 1
17-48626686-C-T c.700C>T p.R234C Missense 7/17 - 2
17-48626695-A-G c.709A>G p.T237A Missense 7/17 - 1
17-48626696-C-T c.710C>T p.T237I Missense 7/17 - 2
17-48626705-T-G c.719T>G p.L240R Missense 7/17 - 1
17-48626707-G-A c.721G>A p.A241T Missense 7/17 - 1
17-48626710-C-T c.724C>T p.R242* Nonsense 7/17 - 1
17-48626711-G-C c.725G>C p.R242P Missense 7/17 - 1
17-48626718-G-T c.732G>T p.E244D Missense 7/17 - 1
17-48626722-A-T c.736A>T p.S246C Missense 7/17 - 1
17-48626724-C-T c.738C>T p.S246= Synonymous 7/17 - 1
17-48626728-G-C c.742G>C p.G248R Missense 7/17 - 1
17-48626729-G-A c.743G>A p.G248D Missense 7/17 - 1
17-48626745-G-A c.759G>A p.P253= Synonymous 7/17 - 2
17-48626745-G-T c.759G>T p.P253= Synonymous 7/17 - 1
17-48626752-G-T c.766G>T p.A256S Missense 7/17 - 1
17-48626753-C-T c.767C>T p.A256V Missense 7/17 - 1
17-48626761-G-A c.775G>A p.V259M Missense 7/17 - 1
17-48626764-A-C c.778A>C p.N260H Missense 7/17 - 1
17-48626773-T-A c.787T>A p.C263S Missense 7/17 - 1
17-48626774-G-C c.788G>C p.C263S Missense 7/17 - 1
17-48626777-T-G c.791T>G p.F264C Missense 7/17 - 1
17-48626778-C-G c.792C>G p.F264L Missense 7/17 - 1
17-48626779-C-A c.793C>A p.Q265K Missense 7/17 - 1
17-48626788-G-A c.802G>A p.D268N Missense 7/17 - 1
17-48626788-G-C c.802G>C p.D268H Missense 7/17 - 1
17-48626790-T-A c.804T>A p.D268E Missense 7/17 - 1
17-48626790-T-G c.804T>G p.D268E Missense 7/17 - 1
17-48626791-G-A c.805G>A p.E269K Missense 7/17 - 1
17-48626806-GA-AT c.820_821delinsAT p.E274I Missense 7/17 - 1
17-48626811-C-T c.825C>T p.Y275= Synonymous 7/17 - 1
17-48626812-G-A c.826G>A p.G276S Missense 7/17 - 1
17-48626812-G-T c.826G>T p.G276C Missense 7/17 - 1
17-48626814-T-C c.828T>C p.G276= Synonymous 7/17 - 1
17-48626821-GC-TG c.835_836delinsTG p.A279C Missense 7/17 - 1
17-48626823-T-C c.837T>C p.A279= Synonymous 7/17 - 1
17-48626829-C-A c.843C>A p.A281= Synonymous 7/17 - 1
17-48626835-AG-A c.849del p.K283Nfs*6 Frameshift 7/17 - 1
17-48626839-C-T c.853C>T p.P285S Missense 7/17 - 1
17-48626843-C-T c.857C>T p.T286M Missense 7/17 - 1
17-48626844-G-A c.858G>A p.T286= Synonymous 7/17 - 2
17-48626844-G-C c.858G>C p.T286= Synonymous 7/17 - 1
17-48626844-G-T c.858G>T p.T286= Synonymous 7/17 - 1
17-48626847-G-A c.861G>A p.P287= Synonymous 7/17 - 1
17-48626847-G-C c.861G>C p.P287= Synonymous 7/17 - 1
17-48626847-G-T c.861G>T p.P287= Synonymous 7/17 - 1
17-48627148-G-C c.863-198G>C - IntronicSNV - 7/16 1
17-48627360-C-A c.877C>A p.L293M Missense 8/17 - 1
17-48627368-C-A c.885C>A p.S295= Synonymous 8/17 - 1
17-48627377-C-A c.894C>A p.L298= Synonymous 8/17 - 1
17-48627377-C-G c.894C>G p.L298= Synonymous 8/17 - 1
17-48627377-C-T c.894C>T p.L298= Synonymous 8/17 - 1
17-48627384-CGA-TGT c.901_903delinsTGT p.R301C Missense 8/17 - 1
17-48627385-G-A c.902G>A p.R301Q Missense 8/17 - 1
17-48627385-G-T c.902G>T p.R301L Missense 8/17 - 1
17-48627386-A-G c.903A>G p.R301= Synonymous 8/17 - 1
17-48627390-A-G c.907A>G p.T303A Missense 8/17 - 1
17-48627392-T-A c.909T>A p.T303= Synonymous 8/17 - 1
17-48627392-T-C c.909T>C p.T303= Synonymous 8/17 - 1
17-48627392-T-G c.909T>G p.T303= Synonymous 8/17 - 1
17-48627395-G-A c.912G>A p.Q304= Synonymous 8/17 - 1
17-48627396-G-A c.913G>A p.D305N Missense 8/17 - 1
17-48627403-C-T c.920C>T p.S307F Missense 8/17 - 1
17-48627406-G-A c.923G>A p.R308Q Missense 8/17 - 6
17-48627407-G-A c.924G>A p.R308= Synonymous 8/17 - 1
17-48627415-A-C c.932A>C p.Q311P Missense 8/17 - 2
17-48627415-A-G c.932A>G p.Q311R Missense 8/17 - 1
17-48627419-G-A c.936G>A p.M312I Missense 8/17 - 1
17-48627419-G-C c.936G>C p.M312I Missense 8/17 - 1
17-48627419-G-T c.936G>T p.M312I Missense 8/17 - 1
17-48627421-C-G c.938C>G p.A313G Missense 8/17 - 1
17-48627425-TGC-T c.942_943del p.H315Yfs*7 Frameshift 8/17 - 1
17-48627432-C-T c.949C>T p.L317= Synonymous 8/17 - 1
17-48627440-G-A c.957G>A p.M319I Missense 8/17 - 1
17-48627440-G-C c.957G>C p.M319I Missense 8/17 - 1
17-48627440-G-T c.957G>T p.M319I Missense 8/17 - 1
17-48627443-G-A c.960G>A p.M320I Missense 8/17 - 3
17-48627443-G-C c.960G>C p.M320I Missense 8/17 - 3
17-48627443-G-T c.960G>T p.M320I Missense 8/17 - 3
17-48627449-C-T c.966C>T p.N322= Synonymous 8/17 - 1
17-48627450-G-A c.967G>A p.G323R Missense 8/17 - 3
17-48627450-G-C c.967G>C p.G323R Missense 8/17 - 1
17-48627450-G-T c.967G>T p.G323W Missense 8/17 - 1
17-48627454-G-A c.971G>A p.G324D Missense 8/17 - 1
17-48627459-C-A c.976C>A p.R326= Synonymous 8/17 - 1
17-48627459-C-T c.976C>T p.R326W Missense 8/17 - 1
17-48627461-G-A c.978G>A p.R326= Synonymous 8/17 - 1
17-48627461-G-C c.978G>C p.R326= Synonymous 8/17 - 1
17-48627461-G-T c.978G>T p.R326= Synonymous 8/17 - 1
17-48627460-G-A c.977G>A p.R326Q Missense 8/17 - 3
17-48627462-G-T c.979G>T p.D327Y Missense 8/17 - 1
17-48627463-A-G c.980A>G p.D327G Missense 8/17 - 1
17-48627466-A-G c.983A>G p.H328R Missense 8/17 - 1
17-48627476-G-T c.993G>T p.Q331H Missense 8/17 - 1
17-48627494-T-A c.993+18T>A - IntronicSNV - 8/16 1
17-48627577-C-A c.1002C>A p.H334Q Missense 9/17 - 2
17-48627577-C-G c.1002C>G p.H334Q Missense 9/17 - 2
17-48627577-C-T c.1002C>T p.H334= Synonymous 9/17 - 1
17-48627578-CGC-TGG c.1003_1005delinsTGG p.R335W Missense 9/17 - 1
17-48627578-C-T c.1003C>T p.R335C Missense 9/17 - 2
17-48627582-A-G c.1007A>G p.Y336C Missense 9/17 - 1
17-48627585-C-G c.1010C>G p.S337C Missense 9/17 - 1
17-48627586-C-A c.1011C>A p.S337= Synonymous 9/17 - 1
17-48627586-C-G c.1011C>G p.S337= Synonymous 9/17 - 1
17-48627586-C-T c.1011C>T p.S337= Synonymous 9/17 - 1
17-48627589-A-G c.1014A>G p.T338= Synonymous 9/17 - 1
17-48627594-G-A c.1019G>A p.R340H Missense 9/17 - 2
17-48627595-C-A c.1020C>A p.R340= Synonymous 9/17 - 2
17-48627595-C-G c.1020C>G p.R340= Synonymous 9/17 - 1
17-48627595-C-T c.1020C>T p.R340= Synonymous 9/17 - 1
17-48627597-A-G c.1022A>G p.Q341R Missense 9/17 - 2
17-48627598-G-A c.1023G>A p.Q341= Synonymous 9/17 - 1
17-48627604-C-T c.1029C>T p.H343= Synonymous 9/17 - 1
17-48627605-G-A c.1030G>A p.V344I Missense 9/17 - 4
17-48627605-G-T c.1030G>T p.V344F Missense 9/17 - 1
17-48627617-G-C c.1042G>C p.E348Q Missense 9/17 - 1
17-48627626-CTC-ATG c.1051_1053delinsATG p.L351M Missense 9/17 - 1
17-48627637-G-A c.1062G>A p.Q354= Synonymous 9/17 - 1
17-48627637-G-C c.1062G>C p.Q354H Missense 9/17 - 1
17-48627637-G-T c.1062G>T p.Q354H Missense 9/17 - 1
17-48627638-G-A c.1063G>A p.A355T Missense 9/17 - 2
17-48627639-C-T c.1064C>T p.A355V Missense 9/17 - 1
17-48627647-G-C c.1072G>C p.A358P Missense 9/17 - 1
17-48627647-G-T c.1072G>T p.A358S Missense 9/17 - 1
17-48627648-C-T c.1073C>T p.A358V Missense 9/17 - 1
17-48627659-T-A c.1084T>A p.S362T Missense 9/17 - 2
17-48627661-G-A c.1086G>A p.S362= Synonymous 9/17 - 1
17-48627661-G-C c.1086G>C p.S362= Synonymous 9/17 - 1
17-48627661-G-T c.1086G>T p.S362= Synonymous 9/17 - 1
17-48627663-A-T c.1088A>T p.Q363L Missense 9/17 - 1
17-48627670-C-T c.1095C>T p.F365= Synonymous 9/17 - 2
17-48627680-C-T c.1098+7C>T - IntronicSNV - 9/16 1
17-48627677-AC-A c.1098+8del - IntronicDeletion - 9/16 1
17-48627861-C-T c.1099-36C>T - IntronicSNV - 9/16 1
17-48627901-C-T c.1103C>T p.S368F Missense 10/17 - 1
17-48627907-A-G c.1109A>G p.D370G Missense 10/17 - 1
17-48627909-G-A c.1111G>A p.E371K Missense 10/17 - 1
17-48627912-T-C c.1114T>C p.F372L Missense 10/17 - 1
17-48627914-C-A c.1116C>A p.F372L Missense 10/17 - 1
17-48627914-C-G c.1116C>G p.F372L Missense 10/17 - 1
17-48627915-T-A c.1117T>A p.Y373N Missense 10/17 - 2
17-48627919-C-A c.1121C>A p.S374Y Missense 10/17 - 1
17-48627923-C-T c.1125C>T p.D375= Synonymous 10/17 - 1
17-48627924-G-A c.1126G>A p.V376M Missense 10/17 - 1
17-48627925-T-C c.1127T>C p.V376A Missense 10/17 - 2
17-48627926-G-A c.1128G>A p.V376= Synonymous 10/17 - 1
17-48627927-G-A c.1129G>A p.A377T Missense 10/17 - 1
17-48627929-C-A c.1131C>A p.A377= Synonymous 10/17 - 1
17-48627929-C-G c.1131C>G p.A377= Synonymous 10/17 - 1
17-48627929-C-T c.1131C>T p.A377= Synonymous 10/17 - 1
17-48627933-G-C c.1135G>C p.G379R Missense 10/17 - 1
17-48627939-CTG-TTT c.1141_1143delinsTTT p.L381F Missense 10/17 - 1
17-48627946-A-G c.1148A>G p.Y383C Missense 10/17 - 1
17-48627947-C-T c.1149C>T p.Y383= Synonymous 10/17 - 2
17-48627954-C-G c.1156C>G p.R386G Missense 10/17 - 1
17-48627954-C-T c.1156C>T p.R386W Missense 10/17 - 3
17-48627955-G-A c.1157G>A p.R386Q Missense 10/17 - 1
17-48627957-AG-CT c.1159_1160inv p.S387L Missense 10/17 - 1
17-48627959-C-T c.1161C>T p.S387= Synonymous 10/17 - 1
17-48627960-C-T c.1162C>T p.L388= Synonymous 10/17 - 1
17-48627962-G-T c.1164G>T p.L388= Synonymous 10/17 - 1
17-48627969-CCGG-C c.1171_1173del p.R391del SpliceDonorDeletion 10/17 - 1
17-48627969-C-T c.1171C>T p.R391W Missense 10/17 - 2
17-48628070-C-T c.1175C>T p.S392F Missense 11/17 - 2
17-48628072-G-A c.1177G>A p.G393R Missense 11/17 - 1
17-48628075-G-C c.1180G>C p.G394R Missense 11/17 - 1
17-48628076-G-C c.1181G>C p.G394A Missense 11/17 - 1
17-48628080-C-T c.1185C>T p.F395= Synonymous 11/17 - 1
17-48628087-G-A c.1192G>A p.A398T Missense 11/17 - 1
17-48628090-G-A c.1195G>A p.E399K Missense 11/17 - 1
17-48628092-A-G c.1197A>G p.E399= Synonymous 11/17 - 11
17-48628103-C-T c.1208C>T p.S403L Missense 11/17 - 2
17-48628105-C-T c.1210C>T p.P404S Missense 11/17 - 1
17-48628106-C-T c.1211C>T p.P404L Missense 11/17 - 1
17-48628107-C-T c.1212C>T p.P404= Synonymous 11/17 - 1
17-48628109-C-CA c.1215dup p.E406Rfs*51 Frameshift 11/17 - 1
17-48628111-G-C c.1216G>C p.E406Q Missense 11/17 - 1
17-48628114-C-A c.1219C>A p.R407= Synonymous 11/17 - 1
17-48628116-G-A c.1221G>A p.R407= Synonymous 11/17 - 1
17-48628116-G-C c.1221G>C p.R407= Synonymous 11/17 - 1
17-48628116-G-T c.1221G>T p.R407= Synonymous 11/17 - 1
17-48628115-G-A c.1220G>A p.R407Q Missense 11/17 - 1
17-48628123-C-T c.1228C>T p.R410W Missense 11/17 - 3
17-48628124-G-A c.1229G>A p.R410Q Missense 11/17 - 1
17-48628126-C-A c.1231C>A p.P411T Missense 11/17 - 1
17-48628137-C-T c.1242C>T p.G414= Synonymous 11/17 - 1
17-48628138-G-A c.1243G>A p.A415T Missense 11/17 - 1
17-48628141-T-A c.1246T>A p.Y416N Missense 11/17 - 1
17-48628143-C-T c.1248C>T p.Y416= Synonymous 11/17 - 1
17-48628152-G-C c.1257G>C p.W419C Missense 11/17 - 2
17-48628152-G-T c.1257G>T p.W419C Missense 11/17 - 2
17-48628160-A-G c.1265A>G p.K422R Missense 11/17 - 9
17-48628161-A-G c.1266A>G p.K422= Synonymous 11/17 - 1
17-48628165-G-A c.1270G>A p.V424I Missense 11/17 - 1
17-48628167-T-TCG c.1273_1274insGC p.Q425Rfs*16 Frameshift 11/17 - 1
17-48628171-C-T c.1276C>T p.Q426* Nonsense 11/17 - 1
17-48628176-C-T c.1281C>T p.L427= Synonymous 11/17 - 2
17-48628179-C-T c.1284C>T p.L428= Synonymous 11/17 - 1
17-48628181-C-A c.1286C>A p.P429Q Missense 11/17 - 1
17-48628198-G-A c.1303G>A p.A435T Missense 11/17 - 1
17-48628199-C-T c.1304C>T p.A435V Missense 11/17 - 1
17-48628200-C-A c.1305C>A p.A435= Synonymous 11/17 - 1
17-48628200-C-G c.1305C>G p.A435= Synonymous 11/17 - 1
17-48628200-C-T c.1305C>T p.A435= Synonymous 11/17 - 1
17-48628204-G-A c.1309G>A p.E437K Missense 11/17 - 1
17-48628206-G-A c.1311G>A p.E437= Synonymous 11/17 - 1
17-48628207-C-T c.1312C>T p.P438S Missense 11/17 - 1
17-48628211-T-C c.1316T>C p.L439P Missense 11/17 - 2
17-48628219-GG-AC c.1324_1325delinsAC p.G442T Missense 11/17 - 1
17-48628219-G-T c.1324G>T p.G442C Missense 11/17 - 1
17-48628224-G-C c.1329G>C p.Q443H Missense 11/17 - 1
17-48628224-G-T c.1329G>T p.Q443H Missense 11/17 - 1
17-48628227-C-A c.1332C>A p.L444= Synonymous 11/17 - 1
17-48628227-C-G c.1332C>G p.L444= Synonymous 11/17 - 1
17-48628227-C-T c.1332C>T p.L444= Synonymous 11/17 - 1
17-48628230-C-A c.1335C>A p.L445= Synonymous 11/17 - 1
17-48628241-A-G c.1346A>G p.Y449C Missense 11/17 - 1
17-48628242-C-T c.1347C>T p.Y449= Synonymous 11/17 - 5
17-48628243-G-T c.1348G>T p.G450C Missense 11/17 - 1
17-48628248-C-A c.1353C>A p.L451= Synonymous 11/17 - 3
17-48628248-C-G c.1353C>G p.L451= Synonymous 11/17 - 2
17-48628248-C-T c.1353C>T p.L451= Synonymous 11/17 - 2
17-48628254-G-C c.1359G>C p.E453D Missense 11/17 - 1
17-48628254-G-T c.1359G>T p.E453D Missense 11/17 - 1
17-48628255-G-A c.1360G>A p.A454T Missense 11/17 - 1
17-48628274-G-A c.1379G>A p.S460N Missense 11/17 - 1
17-48628360-A-G c.1385A>G p.D462G Missense 12/17 - 1
17-48628361-C-T c.1386C>T p.D462= Synonymous 12/17 - 1
17-48628365-A-G c.1390A>G p.K464E Missense 12/17 - 1
17-48628369-G-A c.1394G>A p.G465E Missense 12/17 - 1
17-48628369-G-T c.1394G>T p.G465V Missense 12/17 - 1
17-48628372-A-C c.1397A>C p.E466A Missense 12/17 - 1
17-48628381-G-A c.1406G>A p.G469D Missense 12/17 - 1
17-48628389-GTG-ATC c.1414_1416delinsATC p.V472I Missense 12/17 - 1
17-48628391-G-A c.1416G>A p.V472= Synonymous 12/17 - 1
17-48628391-G-C c.1416G>C p.V472= Synonymous 12/17 - 1
17-48628391-G-T c.1416G>T p.V472= Synonymous 12/17 - 1
17-48628397-C-G c.1422C>G p.T474= Synonymous 12/17 - 1
17-48628398-G-C c.1423G>C p.V475L Missense 12/17 - 1
17-48628401-C-T c.1426C>T p.R476W Missense 12/17 - 2
17-48628402-G-A c.1427G>A p.R476Q Missense 12/17 - 1
17-48628408-C-T c.1433C>T p.S478L Missense 12/17 - 1
17-48628409-G-A c.1434G>A p.S478= Synonymous 12/17 - 2
17-48628411-T-C c.1436T>C p.L479P Missense 12/17 - 1
17-48628416-CTG-TTT c.1441_1443delinsTTT p.L481F Missense 12/17 - 1
17-48628422-GC-TG c.1447_1448delinsTG p.A483C Missense 12/17 - 1
17-48628423-C-T c.1448C>T p.A483V Missense 12/17 - 2
17-48628429-G-A c.1454G>A p.R485H Missense 12/17 - 1
17-48628429-G-C c.1454G>C p.R485P Missense 12/17 - 1
17-48628437-T-C c.1462T>C p.L488= Synonymous 12/17 - 1
17-48628439-G-A c.1464G>A p.L488= Synonymous 12/17 - 1
17-48628448-G-A c.1473G>A p.E491= Synonymous 12/17 - 1
17-48628452-G-A c.1477G>A p.V493M Missense 12/17 - 3
17-48628452-G-C c.1477G>C p.V493L Missense 12/17 - 1
17-48628452-G-T c.1477G>T p.V493L Missense 12/17 - 2
17-48628455-C-A c.1480C>A p.R494= Synonymous 12/17 - 1
17-48628457-G-A c.1482G>A p.R494= Synonymous 12/17 - 2
17-48628457-G-C c.1482G>C p.R494= Synonymous 12/17 - 1
17-48628457-G-T c.1482G>T p.R494= Synonymous 12/17 - 1
17-48628465-T-G c.1490T>G p.L497R Missense 12/17 - 1
17-48628470-T-A c.1495T>A p.S499T Missense 12/17 - 34
17-48628472-A-C c.1497A>C p.S499= Synonymous 12/17 - 2
17-48628472-A-G c.1497A>G p.S499= Synonymous 12/17 - 2
17-48628472-A-T c.1497A>T p.S499= Synonymous 12/17 - 2
17-48628477-T-A c.1502T>A p.L501Q Missense 12/17 - 1
17-48628479-G-T c.1504G>T p.E502* Nonsense 12/17 - 1
17-48628483-A-G c.1508A>G p.K503R Missense 12/17 - 2
17-48628493-G-C c.1518G>C p.Q506H Missense 12/17 - 1
17-48628493-G-T c.1518G>T p.Q506H Missense 12/17 - 1
17-48628497-CGG-TGT c.1522_1524delinsTGT p.R508C Missense 12/17 - 1
17-48628503-CA-GC c.1528_1529delinsGC p.H510A Missense 12/17 - 1
17-48628506-C-T c.1531C>T p.R511W Missense 12/17 - 3
17-48628507-G-C c.1532G>C p.R511P Missense 12/17 - 1
17-48628511-C-A c.1536C>A p.P512= Synonymous 12/17 - 6
17-48628511-C-G c.1536C>G p.P512= Synonymous 12/17 - 3
17-48628511-C-T c.1536C>T p.P512= Synonymous 12/17 - 3
17-48628516-C-T c.1541C>T p.P514L Missense 12/17 - 1
17-48628525-A-T c.1550A>T p.D517V Missense 12/17 - 1
17-48628526-AC-A c.1551del p.D517Efs*11 Frameshift 12/17 - 1
17-48628527-A-G c.1552A>G p.S518G Missense 12/17 - 1
17-48628528-G-A c.1553G>A p.S518N Missense 12/17 - 1
17-48628551-G-A c.1576G>A p.G526S Missense 12/17 - 1
17-48628581-T-A c.1576+30T>A - IntronicSNV - 12/16 7
17-48628581-T-C c.1576+30T>C - IntronicSNV - 12/16 4
17-48628877-A-C c.1582A>C p.M528L Missense 13/17 - 1
17-48628877-A-T c.1582A>T p.M528L Missense 13/17 - 1
17-48628880-G-A c.1585G>A p.V529M Missense 13/17 - 2
17-48628884-C-T c.1589C>T p.S530L Missense 13/17 - 1
17-48628888-C-T c.1593C>T p.G531= Synonymous 13/17 - 1
17-48628890-A-G c.1595A>G p.Y532C Missense 13/17 - 1
17-48628893-C-T c.1598C>T p.A533V Missense 13/17 - 1
17-48628894-T-C c.1599T>C p.A533= Synonymous 13/17 - 1
17-48628901-GGG-TGT c.1606_1608delinsTGT p.G536C Missense 13/17 - 1
17-48628908-T-A c.1613T>A p.V538D Missense 13/17 - 1
17-48628909-C-T c.1614C>T p.V538= Synonymous 13/17 - 2
17-48628911-T-C c.1616T>C p.L539P Missense 13/17 - 2
17-48628916-C-T c.1621C>T p.Q541* Nonsense 13/17 - 3
17-48628939-C-A c.1644C>A p.A548= Synonymous 13/17 - 1
17-48628939-C-G c.1644C>G p.A548= Synonymous 13/17 - 1
17-48628939-C-T c.1644C>T p.A548= Synonymous 13/17 - 1
17-48628941-C-G c.1646C>G p.T549S Missense 13/17 - 1
17-48628944-A-G c.1649A>G p.N550S Missense 13/17 - 1
17-48628947-GT-AG c.1652_1653delinsAG p.G551E Missense 13/17 - 1
17-48628949-G-A c.1654G>A p.A552T Missense 13/17 - 1
17-48628954-G-A c.1659G>A p.K553= Synonymous 13/17 - 1
17-48628957-C-T c.1662C>T p.F554= Synonymous 13/17 - 2
17-48628964-CGG-TGT c.1669_1671delinsTGT p.R557C Missense 13/17 - 1
17-48628964-C-T c.1669C>T p.R557W Missense 13/17 - 4
17-48628965-G-A c.1670G>A p.R557Q Missense 13/17 - 2
17-48628965-G-C c.1670G>C p.R557P Missense 13/17 - 1
17-48628978-AT-A c.1683del p.D561Efs*7 Frameshift 13/17 - 1
17-48628983-C-A c.1688C>A p.A563D Missense 13/17 - 1
17-48628991-C-T c.1696C>T p.R566C Missense 13/17 - 1
17-48628993-C-A c.1698C>A p.R566= Synonymous 13/17 - 1
17-48628993-C-G c.1698C>G p.R566= Synonymous 13/17 - 1
17-48628993-C-T c.1698C>T p.R566= Synonymous 13/17 - 1
17-48629000-C-G c.1705C>G p.R569G Missense 13/17 - 2
17-48629000-CGG-TGT c.1705_1707delinsTGT p.R569C Missense 13/17 - 1
17-48629000-C-T c.1705C>T p.R569W Missense 13/17 - 1
17-48629001-G-A c.1706G>A p.R569Q Missense 13/17 - 2
17-48629007-G-C c.1712G>C p.C571S Missense 13/17 - 1
17-48629011-C-T c.1716C>T p.Y572= Synonymous 13/17 - 1
17-48629014-C-A c.1719C>A p.T573= Synonymous 13/17 - 1
17-48629014-C-T c.1719C>T p.T573= Synonymous 13/17 - 1
17-48629018-C-A c.1723C>A p.P575T Missense 13/17 - 3
17-48629018-CC-TT c.1723_1724delinsTT p.P575F Missense 13/17 - 1
17-48629018-C-T c.1723C>T p.P575S Missense 13/17 - 1
17-48629019-C-T c.1724C>T p.P575L Missense 13/17 - 3
17-48629021-G-T c.1726G>T p.G576W Missense 13/17 - 1
17-48629025-G-C c.1730G>C p.G577A Missense 13/17 - 1
17-48629020-TG-T c.1731del p.T578Lfs*73 Frameshift 13/17 - 1
17-48629033-G-A c.1738G>A p.E580K Missense 13/17 - 1
17-48629041-G-C c.1745+1G>C - IntronicSNV - 13/16 1
17-48629041-G-T c.1745+1G>T - IntronicSNV - 13/16 2
17-48629112-C-T c.1745+72C>T - IntronicSNV - 13/16 1
17-48629312-G-A c.1746-18G>A - IntronicSNV - 13/16 6
17-48629312-G-C c.1746-18G>C - IntronicSNV - 13/16 6
17-48629312-G-T c.1746-18G>T - IntronicSNV - 13/16 6
17-48629333-C-T c.1749C>T p.N583= Synonymous 14/17 - 1
17-48629343-T-TG c.1763dup p.F589Lfs*17 Frameshift 14/17 - 1
17-48629349-T-A c.1765T>A p.F589I Missense 14/17 - 1
17-48629351-C-T c.1767C>T p.F589= Synonymous 14/17 - 1
17-48629355-G-T c.1771G>T p.E591* Nonsense 14/17 - 1
17-48629360-C-T c.1776C>T p.D592= Synonymous 14/17 - 2
17-48629363-C-T c.1779C>T p.Y593= Synonymous 14/17 - 3
17-48629370-G-A c.1786G>A p.V596M Missense 14/17 - 2
17-48629373-G-A c.1789G>A p.V597M Missense 14/17 - 3
17-48629374-T-C c.1790T>C p.V597A Missense 14/17 - 1
17-48629375-G-A c.1791G>A p.V597= Synonymous 14/17 - 1
17-48629375-G-T c.1791G>T p.V597= Synonymous 14/17 - 1
17-48629382-CTG-TTT c.1798_1800delinsTTT p.L600F Missense 14/17 - 1
17-48629395-A-G c.1811A>G p.Y604C Missense 14/17 - 3
17-48629406-C-T c.1822C>T p.Q608* Nonsense 14/17 - 1
17-48629410-A-G c.1826A>G p.E609G Missense 14/17 - 4
17-48629416-C-T c.1832C>T p.A611V Missense 14/17 - 1
17-48629417-G-A c.1833G>A p.A611= Synonymous 14/17 - 2
17-48629419-G-A c.1835G>A p.W612* Nonsense 14/17 - 1
17-48629420-G-A c.1836G>A p.W612* Nonsense 14/17 - 1
17-48629424-G-T c.1840G>T p.E614* Nonsense 14/17 - 2
17-48629435-G-T c.1851G>T p.L617= Synonymous 14/17 - 1
17-48629436-C-A c.1852C>A p.R618= Synonymous 14/17 - 1
17-48629436-C-T c.1852C>T p.R618W Missense 14/17 - 2
17-48629438-G-A c.1854G>A p.R618= Synonymous 14/17 - 1
17-48629438-G-C c.1854G>C p.R618= Synonymous 14/17 - 1
17-48629438-G-T c.1854G>T p.R618= Synonymous 14/17 - 1
17-48629445-G-C c.1861G>C p.D621H Missense 14/17 - 1
17-48629453-G-C c.1869G>C p.Q623H Missense 14/17 - 1
17-48629453-G-T c.1869G>T p.Q623H Missense 14/17 - 2
17-48629454-G-T c.1870G>T p.D624Y Missense 14/17 - 2
17-48629456-C-T c.1872C>T p.D624= Synonymous 14/17 - 1
17-48629458-A-G c.1874A>G p.K625R Missense 14/17 - 40
17-48629459-G-A c.1875G>A p.K625= Synonymous 14/17 - 2
17-48629474-C-T c.1890C>T p.S630= Synonymous 14/17 - 1
17-48629477-G-C c.1893G>C p.Q631H Missense 14/17 - 1
17-48629477-G-T c.1893G>T p.Q631H Missense 14/17 - 1
17-48629481-G-T c.1897G>T p.G633C Missense 14/17 - 1
17-48629483-C-T c.1899C>T p.G633= Synonymous 14/17 - 2
17-48629484-G-A c.1900G>A p.G634S Missense 14/17 - 1
17-48629485-G-C c.1901G>C p.G634A Missense 14/17 - 1
17-48629485-G-T c.1901G>T p.G634V Missense 14/17 - 1
17-48629488-A-G c.1904A>G p.Y635C Missense 14/17 - 1
17-48629493-T-A c.1909T>A p.C637S Missense 14/17 - 1
17-48629494-G-C c.1910G>C p.C637S Missense 14/17 - 1
17-48629494-G-A c.1910G>A p.C637Y Missense 14/17 - 1
17-48629495-C-T c.1911C>T p.C637= Synonymous 14/17 - 2
17-48629503-C-T c.1919C>T p.A640V Missense 14/17 - 1
17-48629512-G-T c.1928G>T p.G643V Missense 14/17 - 1
17-48629519-C-T c.1935C>T p.G645= Synonymous 14/17 - 1
17-48629524-C-T c.1940C>T p.P647L Missense 14/17 - 3
17-48629525-C-T c.1941C>T p.P647= Synonymous 14/17 - 1
17-48629527-T-G c.1943T>G p.L648R Missense 14/17 - 1
17-48629529-C-T c.1945C>T p.R649C Missense 14/17 - 1
17-48629530-G-A c.1946G>A p.R649H Missense 14/17 - 1
17-48629532-CTG-ATC c.1948_1950delinsATC p.L650I Missense 14/17 - 1
17-48629538-G-A c.1954G>A p.D652N Missense 14/17 - 1
17-48629540-C-T c.1956C>T p.D652= Synonymous 14/17 - 5
17-48629541-G-A c.1957G>A p.D653N Missense 14/17 - 1
17-48629750-A-C c.1957+209A>C - IntronicSNV - 14/16 2
17-48629802-C-T c.1957+261C>T - IntronicSNV - 14/16 1
17-48630166-C-T c.1957+625C>T - IntronicSNV - 14/16 1
17-48630475-G-T c.1957+934G>T - IntronicSNV - 14/16 1
17-48631324-T-C c.1958-288T>C - IntronicSNV - 14/16 1
17-48631607-T-C c.1958-5T>C - IntronicSNV - 14/16 10
17-48631613-C-T c.1959C>T p.D653= Synonymous 15/17 - 3
17-48631620-G-A c.1966G>A p.G656R Missense 15/17 - 1
17-48631630-C-T c.1976C>T p.P659L Missense 15/17 - 1
17-48631632-A-G c.1978A>G p.S660G Missense 15/17 - 3
17-48631634-C-T c.1980C>T p.S660= Synonymous 15/17 - 2
17-48631635-G-A c.1981G>A p.A661T Missense 15/17 - 2
17-48631642-C-T c.1988C>T p.S663F Missense 15/17 - 1
17-48631643-C-T c.1989C>T p.S663= Synonymous 15/17 - 1
17-48631648-C-T c.1994C>T p.S665L Missense 15/17 - 2
17-48631665-C-T c.2011C>T p.R671W Missense 15/17 - 1
17-48631666-G-A c.2012G>A p.R671Q Missense 15/17 - 1
17-48631674-G-A c.2020G>A p.G674S Missense 15/17 - 1
17-48631679-C-T c.2025C>T p.F675= Synonymous 15/17 - 1
17-48631679-TC-T c.2025del p.F675Lfs*15 Frameshift 15/17 - 1
17-48631681-C-T c.2027C>T p.T676M Missense 15/17 - 1
17-48631682-G-C c.2028G>C p.T676= Synonymous 15/17 - 1
17-48631696-G-A c.2042G>A p.W681* Nonsense 15/17 - 1
17-48631697-G-A c.2043G>A p.W681* Nonsense 15/17 - 1
17-48631700-G-A c.2046G>A p.M682I Missense 15/17 - 1
17-48631700-G-C c.2046G>C p.M682I Missense 15/17 - 1
17-48631700-G-T c.2046G>T p.M682I Missense 15/17 - 1
17-48631722-A-C c.2068A>C p.T690P Missense 15/17 - 1
17-48631725-G-A c.2071G>A p.A691T Missense 15/17 - 1
17-48631726-C-G c.2072C>G p.A691G Missense 15/17 - 2
17-48631727-C-T c.2073C>T p.A691= Synonymous 15/17 - 1
17-48631733-C-A c.2079C>A p.S693= Synonymous 15/17 - 1
17-48631733-C-G c.2079C>G p.S693= Synonymous 15/17 - 1
17-48631733-C-T c.2079C>T p.S693= Synonymous 15/17 - 1
17-48631734-G-T c.2080G>T p.E694* Nonsense 15/17 - 1
17-48631737-C-T c.2083C>T p.R695C Missense 15/17 - 1
17-48631738-G-A c.2084G>A p.R695H Missense 15/17 - 1
17-48631743-C-T c.2089C>T p.R697C Missense 15/17 - 3
17-48631746-C-T c.2092C>T p.R698C Missense 15/17 - 3
17-48631747-G-A c.2093G>A p.R698H Missense 15/17 - 2
17-48631750-T-G c.2096T>G p.V699G Missense 15/17 - 1
17-48631752-C-T c.2098C>T p.P700S Missense 15/17 - 1
17-48631753-C-T c.2099C>T p.P700L Missense 15/17 - 1
17-48631760-G-A c.2106G>A p.A702= Synonymous 15/17 - 1
17-48631760-G-T c.2106G>T p.A702= Synonymous 15/17 - 4
17-48631766-C-T c.2112C>T p.P704= Synonymous 15/17 - 3
17-48631767-G-A c.2113G>A p.E705K Missense 15/17 - 1
17-48631775-C-T c.2121C>T p.V707= Synonymous 15/17 - 1
17-48631776-C-A c.2122C>A p.R708S Missense 15/17 - 2
17-48631776-C-T c.2122C>T p.R708C Missense 15/17 - 4
17-48631780-C-T c.2126C>T p.A709V Missense 15/17 - 1
17-48631782-C-A c.2128C>A p.L710I Missense 15/17 - 1
17-48631785-T-A c.2131T>A p.S711T Missense 15/17 - 3
17-48631786-C-T c.2132C>T p.S711L Missense 15/17 - 2
17-48631788-G-A c.2134G>A p.A712T Missense 15/17 - 1
17-48631788-G-T c.2134G>T p.A712S Missense 15/17 - 1
17-48631789-C-G c.2135C>G p.A712G Missense 15/17 - 1
17-48631790-CC-TT c.2136_2137delinsTT p.Q713* Missense 15/17 - 1
17-48631791-C-T c.2137C>T p.Q713* Nonsense 15/17 - 1
17-48631795-CA-C c.2141del p.Q714Rfs*8 Frameshift 15/17 - 1
17-48631797-C-T c.2143C>T p.Q715* Nonsense 15/17 - 1
17-48631798-A-G c.2144A>G p.Q715R Missense 15/17 - 1
17-48631799-G-A c.2145G>A p.Q715= Synonymous 15/17 - 1
17-48631800-A-G c.2146A>G p.T716A Missense 15/17 - 3
17-48631803-C-T c.2149C>T p.L717F Missense 15/17 - 1
17-48631807-A-G c.2153A>G p.K718R Missense 15/17 - 1
17-48631810-A-G c.2156A>G p.Q719R Missense 15/17 - 1
17-48631811-G-A c.2157G>A p.Q719= Synonymous 15/17 - 1
17-48631857-G-A c.2157+46G>A - IntronicSNV - 15/16 4
17-48631857-G-T c.2157+46G>T - IntronicSNV - 15/16 2
17-48632310-A-G c.2158-283A>G - IntronicSNV - 15/16 1
17-48632310-A-T c.2158-283A>T - IntronicSNV - 15/16 1
17-48632354-C-T c.2158-239C>T - IntronicSNV - 15/16 1
17-48632401-G-A c.2158-192G>A - IntronicSNV - 15/16 1
17-48632595-C-T c.2160C>T p.I720= Synonymous 16/17 - 2
17-48632596-G-A c.2161G>A p.V721M Missense 16/17 - 1
17-48632601-C-T c.2166C>T p.I722= Synonymous 16/17 - 2
17-48632602-T-A c.2167T>A p.C723S Missense 16/17 - 1
17-48632602-TG-AC c.2167_2168delinsAC p.C723T Missense 16/17 - 1
17-48632603-G-C c.2168G>C p.C723S Missense 16/17 - 1
17-48632606-G-C c.2171G>C p.G724A Missense 16/17 - 1
17-48632608-G-A c.2173G>A p.D725N Missense 16/17 - 1
17-48632610-C-T c.2175C>T p.D725= Synonymous 16/17 - 1
17-48632611-C-A c.2176C>A p.R726S Missense 16/17 - 1
17-48632618-C-T c.2183C>T p.A728V Missense 16/17 - 1
17-48632627-C-T c.2192C>T p.T731I Missense 16/17 - 1
17-48632628-C-A c.2193C>A p.T731= Synonymous 16/17 - 1
17-48632646-C-T c.2211C>T p.C737= Synonymous 16/17 - 1
17-48632649-C-A c.2214C>A p.V738= Synonymous 16/17 - 1
17-48632649-C-G c.2214C>G p.V738= Synonymous 16/17 - 1
17-48632649-C-T c.2214C>T p.V738= Synonymous 16/17 - 2
17-48632652-C-G c.2217C>G p.H739Q Missense 16/17 - 1
17-48632653-TC-CT c.2218_2219delinsCT p.S740L Missense 16/17 - 1
17-48632654-C-T c.2219C>T p.S740F Missense 16/17 - 3
17-48632655-T-A c.2220T>A p.S740= Synonymous 16/17 - 2
17-48632655-T-C c.2220T>C p.S740= Synonymous 16/17 - 2
17-48632655-T-G c.2220T>G p.S740= Synonymous 16/17 - 2
17-48632666-C-T c.2231C>T p.P744L Missense 16/17 - 1
17-48632668-A-T c.2233A>T p.N745Y Missense 16/17 - 1
17-48632866-C-G c.2252C>G p.A751G Missense 17/17 - 2
17-48632872-G-T c.2258G>T p.G753V Missense 17/17 - 1
17-48632879-C-A c.2265C>A p.P755= Synonymous 17/17 - 1
17-48632879-C-G c.2265C>G p.P755= Synonymous 17/17 - 1
17-48632879-C-T c.2265C>T p.P755= Synonymous 17/17 - 1
17-48632881-C-T c.2267C>T p.S756L Missense 17/17 - 1
17-48632882-G-A c.2268G>A p.S756= Synonymous 17/17 - 1
17-48632884-G-C c.2270G>C p.S757T Missense 17/17 - 1
17-48632889-C-T c.2275C>T p.L759= Synonymous 17/17 - 4
17-48632893-C-A c.2279C>A p.S760Y Missense 17/17 - 1
17-48632895-C-T c.2281C>T p.R761C Missense 17/17 - 1
17-48632896-G-A c.2282G>A p.R761H Missense 17/17 - 3
17-48632896-G-C c.2282G>C p.R761P Missense 17/17 - 1
17-48632898-C-T c.2284C>T p.Q762* Nonsense 17/17 - 1
17-48632899-A-G c.2285A>G p.Q762R Missense 17/17 - 1
17-48632914-G-A c.2300G>A p.S767N Missense 17/17 - 1
17-48632922-C-T c.2308C>T p.R770* Nonsense 17/17 - 1
17-48632923-G-A c.2309G>A p.R770Q Missense 17/17 - 3
17-48632935-GA-G c.2321del p.D774Afs*46 Frameshift 17/17 - 1
17-48632937-C-T c.2323C>T p.Q775* Nonsense 17/17 - 2
17-48632944-C-T c.2330C>T p.T777I Missense 17/17 - 1
17-48632950-A-G c.2336A>G p.Y779C Missense 17/17 - 1
17-48632953-GT-G c.2339del p.V780Gfs*40 Frameshift 17/17 - 1
17-48632958-GAGA-G c.2346_2348del p.E782_N783delinsD MultiAAMissense 17/17 - 1
17-48632962-A-G c.2348A>G p.N783S Missense 17/17 - 1
17-48632964-C-T c.2350C>T p.Q784* Nonsense 17/17 - 2
17-48632966-A-G c.2352A>G p.Q784= Synonymous 17/17 - 1
17-48632969-C-A c.2355C>A p.A785= Synonymous 17/17 - 1
17-48632970-TG-GC c.2356_2357delinsGC p.C786A Missense 17/17 - 1
17-48632974-C-A c.2360C>A p.S787* Nonsense 17/17 - 1
17-48632974-C-G c.2360C>G p.S787* Nonsense 17/17 - 1
17-48632974-C-T c.2360C>T p.S787L Missense 17/17 - 1
17-48632978-G-A c.2364G>A p.V788= Synonymous 17/17 - 1
17-48632997-CG-C c.2383del p.E795Nfs*25 Frameshift 17/17 - 2
17-48632997-G-A c.2383G>A p.E795K Missense 17/17 - 4
17-48633003-C-T c.2389C>T p.R797* Nonsense 17/17 - 1
17-48633004-G-A c.2390G>A p.R797Q Missense 17/17 - 2
17-48633013-T-A c.2399T>A p.L800Q Missense 17/17 - 1
17-48633018-C-T c.2404C>T p.P802S Missense 17/17 - 1
17-48633043-G-A c.*20G>A - 3-UTRSNV 17/17 - 2
17-48633043-G-T c.*20G>T - 3-UTRSNV 17/17 - 2