VANGL1

VANGL1 VANGL planar cell polarity protein 1

Annotation transcript: NM_138959.3

579 unique variant annotations were identified in 399 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
1-116184619-G-A c.-226G>A - 5_prime_UTR_variant 1/8 - 1
1-116184619-G-C c.-226G>C - 5_prime_UTR_variant 1/8 - 1
1-116184621-C-A c.-224C>A - 5_prime_UTR_variant 1/8 - 1
1-116184877-C-G c.-138+170C>G - intron_variant - 1/7 1
1-116188971-A-G c.-138+4264A>G - intron_variant - 1/7 1
1-116191145-G-C c.-137-2753G>C - IntronicSNV - 1/7 1
1-116193821-G-T c.-137-77G>T - IntronicSNV - 1/7 1
1-116193883-C-T c.-137-15C>T - IntronicSNV - 1/7 1
1-116193882-T-TC c.-137-11dup - IntronicInsertion - 1/7 1
1-116194044-G-A c.10G>A p.E4K Missense 2/8 - 2
1-116194044-G-T c.10G>T p.E4* Nonsense 2/8 - 1
1-116194053-T-C c.19T>C p.Y7H Missense 2/8 - 1
1-116194057-C-T c.23C>T p.S8F Missense 2/8 - 2
1-116194071-T-G c.37T>G p.Y13D Missense 2/8 - 1
1-116194075-C-T c.41C>T p.S14L Missense 2/8 - 1
1-116194077-AG-TA c.43_44delinsTA p.S15Y Missense 2/8 - 1
1-116194079-T-C c.45T>C p.S15= Synonymous 2/8 - 3
1-116194080-C-A c.46C>A p.H16N Missense 2/8 - 1
1-116194081-A-T c.47A>T p.H16L Missense 2/8 - 2
1-116194084-CG-GT c.50_51delinsGT p.S17C Missense 2/8 - 1
1-116194089-A-G c.55A>G p.K19E Missense 2/8 - 1
1-116194085-GA-G c.57del p.K19Nfs*104 Frameshift 2/8 - 1
1-116194093-C-A c.59C>A p.S20Y Missense 2/8 - 2
1-116194109-T-G c.71+4T>G - IntronicSNV - 2/7 1
1-116194111-T-G c.71+6T>G - IntronicSNV - 2/7 1
1-116194195-G-A c.71+90G>A - IntronicSNV - 2/7 1
1-116194313-G-A c.71+208G>A - IntronicSNV - 2/7 1
1-116202148-G-A c.72-114G>A - IntronicSNV - 2/7 2
1-116202262-G-A c.72G>A p.G24= Synonymous 3/8 - 2
1-116202263-G-A c.73G>A p.E25K Missense 3/8 - 4
1-116202266-A-T c.76A>T p.R26* Nonsense 3/8 - 2
1-116202267-G-C c.77G>C p.R26T Missense 3/8 - 2
1-116202267-G-GA c.79dup p.T27Nfs*2 Frameshift 3/8 - 1
1-116202272-AGA-CAT c.82_84delinsCAT p.R28H Missense 3/8 - 1
1-116202273-G-A c.83G>A p.R28K Missense 3/8 - 1
1-116202273-G-T c.83G>T p.R28I Missense 3/8 - 1
1-116202278-A-C c.88A>C p.R30= Synonymous 3/8 - 1
1-116202280-A-G c.90A>G p.R30= Synonymous 3/8 - 1
1-116202281-C-G c.91C>G p.H31D Missense 3/8 - 1
1-116202282-A-G c.92A>G p.H31R Missense 3/8 - 1
1-116202288-CA-TT c.98_99delinsTT p.S33F Missense 3/8 - 1
1-116202290-C-A c.100C>A p.P34T Missense 3/8 - 1
1-116202291-C-T c.101C>T p.P34L Missense 3/8 - 3
1-116202293-C-T c.103C>T p.R35W Missense 3/8 - 2
1-116202294-G-A c.104G>A p.R35Q Missense 3/8 - 1
1-116202304-C-G c.114C>G p.D38E Missense 3/8 - 1
1-116202304-C-T c.114C>T p.D38= Synonymous 3/8 - 3
1-116202305-G-A c.115G>A p.G39S Missense 3/8 - 1
1-116202306-G-C c.116G>C p.G39A Missense 3/8 - 1
1-116202309-G-C c.119G>C p.R40T Missense 3/8 - 1
1-116202311-G-A c.121G>A p.G41R Missense 3/8 - 1
1-116202311-G-T c.121G>T p.G41W Missense 3/8 - 1
1-116202320-A-G c.130A>G p.K44E Missense 3/8 - 1
1-116202325-T-A c.135T>A p.S45= Synonymous 3/8 - 2
1-116202325-T-C c.135T>C p.S45= Synonymous 3/8 - 2
1-116202325-T-G c.135T>G p.S45= Synonymous 3/8 - 2
1-116202329-AC-GA c.139_140delinsGA p.T47D Missense 3/8 - 6
1-116202341-C-G c.151C>G p.P51A Missense 3/8 - 1
1-116202341-C-T c.151C>T p.P51S Missense 3/8 - 1
1-116202345-C-T c.155C>T p.T52I Missense 3/8 - 2
1-116202348-G-T c.158G>T p.G53V Missense 3/8 - 1
1-116202352-G-A c.162G>A p.E54= Synonymous 3/8 - 1
1-116202354-C-A c.164C>A p.P55H Missense 3/8 - 1
1-116202368-G-A c.178G>A p.D60N Missense 3/8 - 3
1-116202368-G-T c.178G>T p.D60Y Missense 3/8 - 2
1-116202371-T-C c.181T>C p.S61P Missense 3/8 - 1
1-116202372-C-A c.182C>A p.S61Y Missense 3/8 - 1
1-116202372-C-T c.182C>T p.S61F Missense 3/8 - 3
1-116202377-C-T c.187C>T p.R63W Missense 3/8 - 1
1-116202380-A-G c.190A>G p.T64A Missense 3/8 - 1
1-116202393-A-G c.203A>G p.Q68R Missense 3/8 - 3
1-116202399-G-C c.204+5G>C - IntronicSNV - 3/7 1
1-116203864-A-G c.204+1470A>G - IntronicSNV - 3/7 1
1-116206285-G-A c.208G>A p.D70N Missense 4/8 - 1
1-116206289-A-G c.212A>G p.N71S Missense 4/8 - 1
1-116206296-A-T c.219A>T p.G73= Synonymous 4/8 - 1
1-116206305-C-T c.228C>T p.T76= Synonymous 4/8 - 1
1-116206308-G-A c.231G>A p.T77= Synonymous 4/8 - 1
1-116206308-G-C c.231G>C p.T77= Synonymous 4/8 - 1
1-116206308-G-T c.231G>T p.T77= Synonymous 4/8 - 1
1-116206309-G-T c.232G>T p.A78S Missense 4/8 - 1
1-116206310-C-T c.233C>T p.A78V Missense 4/8 - 1
1-116206312-A-T c.235A>T p.I79F Missense 4/8 - 1
1-116206313-T-A c.236T>A p.I79N Missense 4/8 - 1
1-116206317-A-C c.240A>C p.T80= Synonymous 4/8 - 1
1-116206317-A-G c.240A>G p.T80= Synonymous 4/8 - 1
1-116206317-A-T c.240A>T p.T80= Synonymous 4/8 - 1
1-116206320-C-T c.243C>T p.G81= Synonymous 4/8 - 1
1-116206322-C-A c.245C>A p.T82N Missense 4/8 - 1
1-116206322-C-G c.245C>G p.T82S Missense 4/8 - 1
1-116206324-TCG-ATC c.247_249delinsATC p.S83I Missense 4/8 - 1
1-116206325-C-G c.248C>G p.S83W Missense 4/8 - 1
1-116206325-C-T c.248C>T p.S83L Missense 4/8 - 8
1-116206326-G-A c.249G>A p.S83= Synonymous 4/8 - 3
1-116206326-G-C c.249G>C p.S83= Synonymous 4/8 - 1
1-116206326-G-T c.249G>T p.S83= Synonymous 4/8 - 1
1-116206333-A-G c.256A>G p.S86G Missense 4/8 - 1
1-116206340-C-T c.263C>T p.S88F Missense 4/8 - 3
1-116206351-A-G c.274A>G p.I92V Missense 4/8 - 2
1-116206355-C-T c.278C>T p.A93V Missense 4/8 - 2
1-116206357-AGG-TGT c.280_282delinsTGT p.R94C Missense 4/8 - 1
1-116206359-G-C c.282G>C p.R94S Missense 4/8 - 2
1-116206372-A-G c.295A>G p.M99V Missense 4/8 - 1
1-116206378-G-A c.301G>A p.D101N Missense 4/8 - 1
1-116206380-C-T c.303C>T p.D101= Synonymous 4/8 - 1
1-116206384-G-A c.307G>A p.V103M Missense 4/8 - 1
1-116206385-T-C c.308T>C p.V103A Missense 4/8 - 1
1-116206392-G-T c.315G>T p.L105= Synonymous 4/8 - 2
1-116206393-G-T c.316G>T p.D106Y Missense 4/8 - 2
1-116206395-T-A c.318T>A p.D106E Missense 4/8 - 1
1-116206400-A-G c.323A>G p.K108R Missense 4/8 - 2
1-116206402-CGC-AAG c.325_327delinsAAG p.R109K Missense 4/8 - 1
1-116206402-C-T c.325C>T p.R109C Missense 4/8 - 1
1-116206407-C-T c.330C>T p.Y110= Synonymous 4/8 - 3
1-116206416-C-T c.339C>T p.L113= Synonymous 4/8 - 1
1-116206422-C-A c.345C>A p.V115= Synonymous 4/8 - 1
1-116206422-C-G c.345C>G p.V115= Synonymous 4/8 - 1
1-116206422-C-T c.345C>T p.V115= Synonymous 4/8 - 1
1-116206423-G-A c.346G>A p.A116T Missense 4/8 - 27
1-116206423-G-C c.346G>C p.A116P Missense 4/8 - 10
1-116206425-C-A c.348C>A p.A116= Synonymous 4/8 - 2
1-116206425-C-G c.348C>G p.A116= Synonymous 4/8 - 2
1-116206425-C-T c.348C>T p.A116= Synonymous 4/8 - 2
1-116206427-C-G c.350C>G p.S117C Missense 4/8 - 1
1-116206432-C-T c.355C>T p.L119F Missense 4/8 - 1
1-116206435-G-A c.358G>A p.G120R Missense 4/8 - 1
1-116206436-G-A c.359G>A p.G120E Missense 4/8 - 2
1-116206436-G-C c.359G>C p.G120A Missense 4/8 - 1
1-116206439-T-C c.362T>C p.L121P Missense 4/8 - 1
1-116206449-C-T c.372C>T p.F124= Synonymous 4/8 - 1
1-116206455-C-T c.378C>T p.T126= Synonymous 4/8 - 2
1-116206456-C-T c.379C>T p.P127S Missense 4/8 - 2
1-116206461-T-A c.384T>A p.I128= Synonymous 4/8 - 2
1-116206461-T-C c.384T>C p.I128= Synonymous 4/8 - 2
1-116206463-C-T c.386C>T p.A129V Missense 4/8 - 2
1-116206464-C-T c.387C>T p.A129= Synonymous 4/8 - 1
1-116206467-C-T c.390C>T p.F130= Synonymous 4/8 - 1
1-116206470-C-T c.393C>T p.I131= Synonymous 4/8 - 3
1-116206471-C-T c.394C>T p.L132F Missense 4/8 - 1
1-116206472-T-A c.395T>A p.L132H Missense 4/8 - 1
1-116206484-T-A c.407T>A p.I136N Missense 4/8 - 1
1-116206490-G-C c.413G>C p.W138S Missense 4/8 - 1
1-116206492-AG-CA c.415_416delinsCA p.R139Q Missense 4/8 - 1
1-116206492-AGG-CAT c.415_417delinsCAT p.R139H Missense 4/8 - 1
1-116206498-G-A c.421G>A p.E141K Missense 4/8 - 2
1-116206504-G-A c.427G>A p.E143K Missense 4/8 - 1
1-116206506-G-A c.429G>A p.E143= Synonymous 4/8 - 1
1-116206512-T-C c.435T>C p.C145= Synonymous 4/8 - 1
1-116206514-G-A c.437G>A p.G146D Missense 4/8 - 2
1-116206523-G-A c.446G>A p.C149Y Missense 4/8 - 1
1-116206529-G-T c.452G>T p.G151V Missense 4/8 - 1
1-116206531-C-A c.454C>A p.L152I Missense 4/8 - 1
1-116206535-T-C c.458T>C p.F153S Missense 4/8 - 3
1-116206541-C-G c.464C>G p.S155C Missense 4/8 - 2
1-116206543-A-C c.466A>C p.M156L Missense 4/8 - 1
1-116206543-A-G c.466A>G p.M156V Missense 4/8 - 1
1-116206543-A-T c.466A>T p.M156L Missense 4/8 - 1
1-116206555-C-T c.478C>T p.L160F Missense 4/8 - 2
1-116206558-C-T c.481C>T p.L161F Missense 4/8 - 2
1-116206559-T-A c.482T>A p.L161H Missense 4/8 - 1
1-116206562-T-C c.485T>C p.I162T Missense 4/8 - 1
1-116206566-G-T c.489G>T p.L163= Synonymous 4/8 - 1
1-116206568-TC-AA c.491_492delinsAA p.L164Q Missense 4/8 - 1
1-116206570-A-G c.493A>G p.I165V Missense 4/8 - 1
1-116206572-A-G c.495A>G p.I165M Missense 4/8 - 3
1-116206575-G-T c.498G>T p.G166= Synonymous 4/8 - 1
1-116206578-C-A c.501C>A p.T167= Synonymous 4/8 - 2
1-116206578-C-G c.501C>G p.T167= Synonymous 4/8 - 2
1-116206578-C-T c.501C>T p.T167= Synonymous 4/8 - 2
1-116206580-G-T c.503G>T p.W168L Missense 4/8 - 2
1-116206585-C-A c.508C>A p.L170I Missense 4/8 - 1
1-116206585-C-G c.508C>G p.L170V Missense 4/8 - 1
1-116206584-ACTTTTTTTCCGCAAGCGGAGAG-A c.510_531del p.F171Tfs*93 Frameshift 4/8 - 1
1-116206587-T-C c.510T>C p.L170= Synonymous 4/8 - 1
1-116206588-T-G c.511T>G p.F171V Missense 4/8 - 1
1-116206585-C-CT c.515dup p.R173Pfs*6 Frameshift 4/8 - 2
1-116206585-CT-C c.515del p.F172Sfs*99 Frameshift 4/8 - 6
1-116206592-T-G c.515T>G p.F172C Missense 4/8 - 1
1-116206594-C-T c.517C>T p.R173C Missense 4/8 - 5
1-116206595-G-A c.518G>A p.R173H Missense 4/8 - 6
1-116206596-C-A c.519C>A p.R173= Synonymous 4/8 - 1
1-116206596-C-G c.519C>G p.R173= Synonymous 4/8 - 1
1-116206596-C-T c.519C>T p.R173= Synonymous 4/8 - 1
1-116206600-C-A c.523C>A p.R175= Synonymous 4/8 - 1
1-116206600-C-T c.523C>T p.R175W Missense 4/8 - 4
1-116206602-G-A c.525G>A p.R175= Synonymous 4/8 - 1
1-116206602-G-C c.525G>C p.R175= Synonymous 4/8 - 1
1-116206602-G-T c.525G>T p.R175= Synonymous 4/8 - 1
1-116206601-G-A c.524G>A p.R175Q Missense 4/8 - 8
1-116206601-G-T c.524G>T p.R175L Missense 4/8 - 1
1-116206603-AGA-CAT c.526_528delinsCAT p.R176H Missense 4/8 - 1
1-116206603-A-T c.526A>T p.R176* Nonsense 4/8 - 1
1-116206605-A-C c.528A>C p.R176S Missense 4/8 - 1
1-116206605-A-T c.528A>T p.R176S Missense 4/8 - 2
1-116206606-G-C c.529G>C p.A177P Missense 4/8 - 2
1-116206612-A-C c.535A>C p.M179L Missense 4/8 - 2
1-116206612-A-T c.535A>T p.M179L Missense 4/8 - 2
1-116206614-G-A c.537G>A p.M179I Missense 4/8 - 1
1-116206619-G-A c.542G>A p.R181Q Missense 4/8 - 7
1-116206623-G-A c.546G>A p.V182= Synonymous 4/8 - 1
1-116206625-T-G c.548T>G p.F183C Missense 4/8 - 1
1-116206626-T-C c.549T>C p.F183= Synonymous 4/8 - 1
1-116206628-T-C c.551T>C p.V184A Missense 4/8 - 1
1-116206631-T-G c.554T>G p.F185C Missense 4/8 - 1
1-116206633-C-T c.556C>T p.R186C Missense 4/8 - 12
1-116206634-G-A c.557G>A p.R186H Missense 4/8 - 5
1-116206634-G-C c.557G>C p.R186P Missense 4/8 - 1
1-116206639-C-T c.562C>T p.L188F Missense 4/8 - 2
1-116206641-T-A c.564T>A p.L188= Synonymous 4/8 - 1
1-116206641-T-C c.564T>C p.L188= Synonymous 4/8 - 1
1-116206641-T-G c.564T>G p.L188= Synonymous 4/8 - 1
1-116206652-T-C c.575T>C p.L192P Missense 4/8 - 1
1-116206656-C-T c.579C>T p.I193= Synonymous 4/8 - 1
1-116206658-T-A c.581T>A p.F194Y Missense 4/8 - 2
1-116206661-T-C c.584T>C p.L195P Missense 4/8 - 1
1-116206669-GT-G c.595del p.S199Pfs*72 Frameshift 4/8 - 1
1-116206673-C-T c.596C>T p.S199F Missense 4/8 - 5
1-116206674-C-A c.597C>A p.S199= Synonymous 4/8 - 1
1-116206680-G-T c.603G>T p.W201C Missense 4/8 - 1
1-116206681-C-T c.604C>T p.L202F Missense 4/8 - 3
1-116206681-C-CT c.610dup p.Y204Lfs*88 Frameshift 4/8 - 1
1-116206687-T-TA c.611dup p.Y204* Nonsense 4/8 - 1
1-116206689-C-T c.612C>T p.Y204= Synonymous 4/8 - 1
1-116206690-G-A c.613G>A p.G205R Missense 4/8 - 6
1-116206690-G-C c.613G>C p.G205R Missense 4/8 - 5
1-116206690-G-T c.613G>T p.G205W Missense 4/8 - 1
1-116206691-G-A c.614G>A p.G205E Missense 4/8 - 1
1-116206692-G-A c.615G>A p.G205= Synonymous 4/8 - 1
1-116206692-G-C c.615G>C p.G205= Synonymous 4/8 - 1
1-116206692-G-T c.615G>T p.G205= Synonymous 4/8 - 1
1-116206695-C-T c.618C>T p.V206= Synonymous 4/8 - 3
1-116206697-G-A c.620G>A p.R207H Missense 4/8 - 4
1-116206699-A-G c.622A>G p.I208V Missense 4/8 - 2
1-116206703-T-C c.626T>C p.L209S Missense 4/8 - 1
1-116206711-C-T c.634C>T p.R212W Missense 4/8 - 5
1-116206712-G-A c.635G>A p.R212Q Missense 4/8 - 4
1-116206717-C-T c.640C>T p.R214W Missense 4/8 - 1
1-116206718-G-A c.641G>A p.R214Q Missense 4/8 - 1
1-116206722-T-C c.645T>C p.N215= Synonymous 4/8 - 1
1-116206726-C-A c.649C>A p.Q217K Missense 4/8 - 1
1-116206730-G-A c.653G>A p.G218D Missense 4/8 - 1
1-116206730-G-T c.653G>T p.G218V Missense 4/8 - 1
1-116206749-C-A c.672C>A p.V224= Synonymous 4/8 - 1
1-116206749-C-G c.672C>G p.V224= Synonymous 4/8 - 1
1-116206749-C-T c.672C>T p.V224= Synonymous 4/8 - 1
1-116206752-C-T c.675C>T p.S225= Synonymous 4/8 - 1
1-116206757-T-C c.680T>C p.V227A Missense 4/8 - 1
1-116206758-G-A c.681G>A p.V227= Synonymous 4/8 - 1
1-116206759-G-A c.682G>A p.D228N Missense 4/8 - 5
1-116206759-G-C c.682G>C p.D228H Missense 4/8 - 3
1-116206762-G-A c.685G>A p.A229T Missense 4/8 - 2
1-116206768-C-T c.691C>T p.L231F Missense 4/8 - 1
1-116206769-T-C c.692T>C p.L231P Missense 4/8 - 1
1-116206770-C-G c.693C>G p.L231= Synonymous 4/8 - 1
1-116206775-T-G c.698T>G p.I233S Missense 4/8 - 1
1-116206776-C-A c.699C>A p.I233= Synonymous 4/8 - 1
1-116206776-C-T c.699C>T p.I233= Synonymous 4/8 - 1
1-116206790-T-A c.713T>A p.I238N Missense 4/8 - 1
1-116206791-C-A c.714C>A p.I238= Synonymous 4/8 - 1
1-116206791-C-T c.714C>T p.I238= Synonymous 4/8 - 3
1-116206792-G-A c.715G>A p.V239I Missense 4/8 - 15
1-116206801-G-C c.724G>C p.E242Q Missense 4/8 - 2
1-116206802-A-C c.725A>C p.E242A Missense 4/8 - 1
1-116206807-AG-CA c.730_731delinsCA p.R244Q Missense 4/8 - 1
1-116206808-G-A c.731G>A p.R244K Missense 4/8 - 1
1-116206808-G-T c.731G>T p.R244M Missense 4/8 - 1
1-116206812-G-A c.735G>A p.Q245= Synonymous 4/8 - 1
1-116206812-G-C c.735G>C p.Q245H Missense 4/8 - 1
1-116206823-T-C c.746T>C p.M249T Missense 4/8 - 1
1-116206829-C-T c.752C>T p.T251M Missense 4/8 - 10
1-116206830-G-A c.753G>A p.T251= Synonymous 4/8 - 1
1-116206831-C-T c.754C>T p.L252= Synonymous 4/8 - 1
1-116206833-G-A c.756G>A p.L252= Synonymous 4/8 - 1
1-116206833-G-C c.756G>C p.L252= Synonymous 4/8 - 1
1-116206833-G-T c.756G>T p.L252= Synonymous 4/8 - 1
1-116206843-C-T c.766C>T p.R256C Missense 4/8 - 2
1-116206844-G-A c.767G>A p.R256H Missense 4/8 - 1
1-116206850-C-T c.773C>T p.T258I Missense 4/8 - 4
1-116206852-G-A c.775G>A p.D259N Missense 4/8 - 1
1-116206857-C-A c.780C>A p.G260= Synonymous 4/8 - 1
1-116206857-C-G c.780C>G p.G260= Synonymous 4/8 - 1
1-116206857-C-T c.780C>T p.G260= Synonymous 4/8 - 2
1-116206862-C-A c.785C>A p.S262Y Missense 4/8 - 2
1-116206872-C-T c.795C>T p.Y265= Synonymous 4/8 - 2
1-116206876-C-T c.799C>T p.L267= Synonymous 4/8 - 2
1-116206878-G-T c.801G>T p.L267= Synonymous 4/8 - 1
1-116206951-C-G c.812+62C>G - IntronicSNV - 4/7 4
1-116208944-C-T c.812+2055C>T - IntronicSNV - 4/7 1
1-116209762-C-T c.812+2873C>T - IntronicSNV - 4/7 1
1-116211763-T-C c.812+4874T>C - IntronicSNV - 4/7 6
1-116213872-A-G c.812+6983A>G - IntronicSNV - 4/7 1
1-116214279-A-G c.812+7390A>G - IntronicSNV - 4/7 2
1-116215551-G-A c.812+8662G>A - IntronicSNV - 4/7 1
1-116217037-T-C c.813-7948T>C - IntronicSNV - 4/7 1
1-116219019-T-C c.813-5966T>C - IntronicSNV - 4/7 2
1-116220358-G-C c.813-4627G>C - IntronicSNV - 4/7 1
1-116222647-T-A c.813-2338T>A - IntronicSNV - 4/7 1
1-116224788-T-C c.813-197T>C - IntronicSNV - 4/7 1
1-116224792-C-T c.813-193C>T - IntronicSNV - 4/7 1
1-116224925-G-A c.813-60G>A - IntronicSNV - 4/7 8
1-116224940-C-A c.813-45C>A - IntronicSNV - 4/7 9
1-116224940-C-T c.813-45C>T - IntronicSNV - 4/7 9
1-116224987-T-C c.815T>C p.I272T Missense 5/8 - 1
1-116224988-C-T c.816C>T p.I272= Synonymous 5/8 - 1
1-116224989-C-T c.817C>T p.Q273* Nonsense 5/8 - 2
1-116224993-G-A c.821G>A p.R274Q Missense 5/8 - 12
1-116224995-G-A c.823G>A p.A275T Missense 5/8 - 1
1-116224996-C-T c.824C>T p.A275V Missense 5/8 - 1
1-116225007-G-A c.835G>A p.V279I Missense 5/8 - 1
1-116225008-TC-T c.838del p.L280* Frameshift 5/8 - 1
1-116225013-G-A c.841G>A p.E281K Missense 5/8 - 1
1-116225033-C-A c.861C>A p.F287L Missense 5/8 - 1
1-116225035-C-T c.863C>T p.T288I Missense 5/8 - 6
1-116225040-T-C c.868T>C p.Y290H Missense 5/8 - 2
1-116225046-C-T c.874C>T p.P292S Missense 5/8 - 1
1-116225054-C-T c.882C>T p.L294= Synonymous 5/8 - 4
1-116225056-T-A c.884T>A p.L295Q Missense 5/8 - 1
1-116225069-A-G c.897A>G p.K299= Synonymous 5/8 - 1
1-116225073-C-T c.901C>T p.R301* Nonsense 5/8 - 2
1-116225076-G-A c.904G>A p.A302T Missense 5/8 - 1
1-116225093-C-A c.921C>A p.A307= Synonymous 5/8 - 1
1-116225093-C-G c.921C>G p.A307= Synonymous 5/8 - 1
1-116225093-C-T c.921C>T p.A307= Synonymous 5/8 - 2
1-116225094-G-T c.922G>T p.G308W Missense 5/8 - 3
1-116225098-T-A c.926T>A p.L309Q Missense 5/8 - 2
1-116225102-A-G c.930A>G p.K310= Synonymous 5/8 - 1
1-116225103-G-A c.931G>A p.V311I Missense 5/8 - 1
1-116225105-C-A c.933C>A p.V311= Synonymous 5/8 - 1
1-116225106-T-C c.934T>C p.Y312H Missense 5/8 - 1
1-116225110-A-G c.938A>G p.N313S Missense 5/8 - 1
1-116225111-T-A c.939T>A p.N313K Missense 5/8 - 1
1-116225117-T-A c.945T>A p.D315E Missense 5/8 - 4
1-116225117-T-G c.945T>G p.D315E Missense 5/8 - 1
1-116225180-A-C c.946+62A>C - IntronicSNV - 5/7 7
1-116225180-A-G c.946+62A>G - IntronicSNV - 5/7 5
1-116225180-A-T c.946+62A>T - IntronicSNV - 5/7 5
1-116225430-G-T c.946+312G>T - IntronicSNV - 5/7 1
1-116226459-C-T c.947-106C>T - IntronicSNV - 5/7 5
1-116226571-G-A c.953G>A p.S318N Missense 6/8 - 1
1-116226580-C-T c.962C>T p.A321V Missense 6/8 - 1
1-116226585-G-C c.967G>C p.G323R Missense 6/8 - 1
1-116226588-C-T c.970C>T p.Q324* Nonsense 6/8 - 2
1-116226590-G-A c.972G>A p.Q324= Synonymous 6/8 - 1
1-116226592-C-T c.974C>T p.S325F Missense 6/8 - 1
1-116226594-C-T c.976C>T p.R326W Missense 6/8 - 4
1-116226595-G-A c.977G>A p.R326Q Missense 6/8 - 1
1-116226598-C-T c.980C>T p.A327V Missense 6/8 - 2
1-116226600-A-T c.982A>T p.M328L Missense 6/8 - 2
1-116226601-T-C c.983T>C p.M328T Missense 6/8 - 12
1-116226602-G-A c.984G>A p.M328I Missense 6/8 - 1
1-116226602-G-C c.984G>C p.M328I Missense 6/8 - 1
1-116226602-G-T c.984G>T p.M328I Missense 6/8 - 1
1-116226612-G-A c.994G>A p.A332T Missense 6/8 - 1
1-116226613-C-G c.995C>G p.A332G Missense 6/8 - 1
1-116226618-C-G c.1000C>G p.R334G Missense 6/8 - 2
1-116226619-G-A c.1001G>A p.R334Q Missense 6/8 - 9
1-116226621-C-T c.1003C>T p.R335C Missense 6/8 - 1
1-116226622-G-A c.1004G>A p.R335H Missense 6/8 - 1
1-116226625-G-A c.1007G>A p.R336K Missense 6/8 - 1
1-116226625-G-T c.1007G>T p.R336M Missense 6/8 - 1
1-116226627-G-A c.1009G>A p.D337N Missense 6/8 - 4
1-116226627-G-T c.1009G>T p.D337Y Missense 6/8 - 4
1-116226631-C-A c.1013C>A p.S338* Nonsense 6/8 - 7
1-116226631-C-G c.1013C>G p.S338* Nonsense 6/8 - 2
1-116226635-C-T c.1017C>T p.S339= Synonymous 6/8 - 3
1-116226642-G-A c.1024G>A p.E342K Missense 6/8 - 1
1-116226648-T-C c.1030T>C p.Y344H Missense 6/8 - 2
1-116226658-A-C c.1040A>C p.E347A Missense 6/8 - 5
1-116226658-A-G c.1040A>G p.E347G Missense 6/8 - 1
1-116226668-T-C c.1050T>C p.H350= Synonymous 6/8 - 1
1-116226672-C-T c.1054C>T p.R352W Missense 6/8 - 1
1-116226673-G-A c.1055G>A p.R352Q Missense 6/8 - 1
1-116226674-G-T c.1056G>T p.R352= Synonymous 6/8 - 1
1-116226675-CGA-TGT c.1057_1059delinsTGT p.R353C Missense 6/8 - 2
1-116226675-C-T c.1057C>T p.R353* Nonsense 6/8 - 3
1-116226676-G-A c.1058G>A p.R353Q Missense 6/8 - 4
1-116226679-T-C c.1061T>C p.V354A Missense 6/8 - 1
1-116226683-G-C c.1065G>C p.K355N Missense 6/8 - 1
1-116226683-G-T c.1065G>T p.K355N Missense 6/8 - 1
1-116226686-G-C c.1068G>C p.K356N Missense 6/8 - 1
1-116226686-G-T c.1068G>T p.K356N Missense 6/8 - 1
1-116226688-G-A c.1070G>A p.R357Q Missense 6/8 - 2
1-116226692-A-C c.1074A>C p.K358N Missense 6/8 - 1
1-116226692-A-T c.1074A>T p.K358N Missense 6/8 - 1
1-116226828-TTG-T c.1079+131_1079+132del - IntronicDeletion - 6/7 1
1-116226852-CCA-C c.1079+155_1079+156del - IntronicDeletion - 6/7 1
1-116226862-T-C c.1079+165T>C - IntronicSNV - 6/7 3
1-116226917-G-A c.1079+220G>A - IntronicSNV - 6/7 2
1-116226917-G-C c.1079+220G>C - IntronicSNV - 6/7 1
1-116226961-A-C c.1079+264A>C - IntronicSNV - 6/7 1
1-116226961-A-G c.1079+264A>G - IntronicSNV - 6/7 2
1-116227847-C-T c.1080-67C>T - IntronicSNV - 6/7 1
1-116227914-G-C c.1080G>C p.R360S Missense 7/8 - 1
1-116227914-G-T c.1080G>T p.R360S Missense 7/8 - 1
1-116227918-G-A c.1084G>A p.V362M Missense 7/8 - 1
1-116227925-C-T c.1091C>T p.A364V Missense 7/8 - 1
1-116227933-G-A c.1099G>A p.E367K Missense 7/8 - 1
1-116227944-C-A c.1110C>A p.I370= Synonymous 7/8 - 2
1-116227944-C-T c.1110C>T p.I370= Synonymous 7/8 - 2
1-116227954-C-T c.1120C>T p.R374C Missense 7/8 - 2
1-116227955-G-A c.1121G>A p.R374H Missense 7/8 - 8
1-116227957-C-G c.1123C>G p.L375V Missense 7/8 - 1
1-116227957-C-T c.1123C>T p.L375F Missense 7/8 - 1
1-116227961-A-G c.1127A>G p.Q376R Missense 7/8 - 2
1-116227962-G-C c.1128G>C p.Q376H Missense 7/8 - 1
1-116227962-G-T c.1128G>T p.Q376H Missense 7/8 - 1
1-116227966-G-A c.1132G>A p.E378K Missense 7/8 - 2
1-116227969-G-A c.1135G>A p.E379K Missense 7/8 - 1
1-116227977-G-A c.1143G>A p.Q381= Synonymous 7/8 - 1
1-116227980-A-G c.1146A>G p.K382= Synonymous 7/8 - 1
1-116227985-C-G c.1151C>G p.P384R Missense 7/8 - 3
1-116227991-A-G c.1157A>G p.E386G Missense 7/8 - 1
1-116227996-A-G c.1162A>G p.M388V Missense 7/8 - 1
1-116227999-G-T c.1165G>T p.D389Y Missense 7/8 - 1
1-116228000-A-G c.1166A>G p.D389G Missense 7/8 - 1
1-116228001-C-T c.1167C>T p.D389= Synonymous 7/8 - 1
1-116228005-A-G c.1171A>G p.R391G Missense 7/8 - 1
1-116228006-G-T c.1172G>T p.R391M Missense 7/8 - 2
1-116228008-G-A c.1174G>A p.E392K Missense 7/8 - 3
1-116228011-G-A c.1177G>A p.A393T Missense 7/8 - 1
1-116228012-C-T c.1178C>T p.A393V Missense 7/8 - 1
1-116228013-C-A c.1179C>A p.A393= Synonymous 7/8 - 1
1-116228013-C-G c.1179C>G p.A393= Synonymous 7/8 - 1
1-116228013-C-T c.1179C>T p.A393= Synonymous 7/8 - 4
1-116228014-G-A c.1180G>A p.A394T Missense 7/8 - 2
1-116228020-G-A c.1186G>A p.A396T Missense 7/8 - 2
1-116228028-C-T c.1194C>T p.F398= Synonymous 7/8 - 3
1-116228029-C-T c.1195C>T p.P399S Missense 7/8 - 4
1-116228030-C-T c.1196C>T p.P399L Missense 7/8 - 2
1-116228033-C-T c.1199C>T p.S400F Missense 7/8 - 1
1-116228036-T-C c.1202T>C p.M401T Missense 7/8 - 1
1-116228037-G-A c.1203G>A p.M401I Missense 7/8 - 2
1-116228037-G-C c.1203G>C p.M401I Missense 7/8 - 2
1-116228037-G-T c.1203G>T p.M401I Missense 7/8 - 2
1-116228040-C-A c.1206C>A p.A402= Synonymous 7/8 - 1
1-116228040-C-G c.1206C>G p.A402= Synonymous 7/8 - 1
1-116228040-C-T c.1206C>T p.A402= Synonymous 7/8 - 1
1-116228041-A-T c.1207A>T p.R403W Missense 7/8 - 1
1-116228042-G-T c.1208G>T p.R403M Missense 7/8 - 1
1-116228044-G-T c.1210G>T p.A404S Missense 7/8 - 5
1-116228048-T-C c.1214T>C p.L405P Missense 7/8 - 1
1-116228055-G-A c.1221G>A p.K407= Synonymous 7/8 - 2
1-116228060-T-C c.1226T>C p.L409P Missense 7/8 - 1
1-116228062-C-T c.1228C>T p.R410C Missense 7/8 - 6
1-116228063-G-A c.1229G>A p.R410H Missense 7/8 - 1
1-116228064-C-A c.1230C>A p.R410= Synonymous 7/8 - 1
1-116228064-C-G c.1230C>G p.R410= Synonymous 7/8 - 1
1-116228064-C-T c.1230C>T p.R410= Synonymous 7/8 - 1
1-116228071-C-T c.1237C>T p.R413W Missense 7/8 - 3
1-116228072-G-A c.1238G>A p.R413Q Missense 7/8 - 1
1-116228076-G-C c.1242G>C p.Q414H Missense 7/8 - 1
1-116228076-G-T c.1242G>T p.Q414H Missense 7/8 - 1
1-116228077-C-T c.1243C>T p.Q415* Nonsense 7/8 - 1
1-116228079-G-A c.1245G>A p.Q415= Synonymous 7/8 - 3
1-116228086-C-T c.1252C>T p.H418Y Missense 7/8 - 1
1-116228087-A-G c.1253A>G p.H418R Missense 7/8 - 1
1-116228088-C-A c.1254C>A p.H418Q Missense 7/8 - 1
1-116228088-C-G c.1254C>G p.H418Q Missense 7/8 - 1
1-116228127-C-A c.1293C>A p.I431= Synonymous 7/8 - 1
1-116228127-C-T c.1293C>T p.I431= Synonymous 7/8 - 1
1-116228133-C-T c.1299C>T p.N433= Synonymous 7/8 - 2
1-116228134-G-A c.1300G>A p.G434S Missense 7/8 - 1
1-116228135-G-A c.1301G>A p.G434D Missense 7/8 - 2
1-116228139-G-T c.1305G>T p.M435I Missense 7/8 - 1
1-116228142-C-A c.1308C>A p.T436= Synonymous 7/8 - 1
1-116228142-C-G c.1308C>G p.T436= Synonymous 7/8 - 1
1-116228142-C-T c.1308C>T p.T436= Synonymous 7/8 - 1
1-116228144-C-A c.1310C>A p.P437H Missense 7/8 - 2
1-116228150-T-C c.1314+2T>C - IntronicSNV - 7/7 1
1-116228159-C-G c.1314+11C>G - IntronicSNV - 7/7 1
1-116228160-C-T c.1314+12C>T - IntronicSNV - 7/7 1
1-116228220-C-T c.1314+72C>T - IntronicSNV - 7/7 7
1-116229707-TTA-T c.1314+1559_1314+1560del - IntronicDeletion - 7/7 1
1-116230624-T-C c.1314+2476T>C - IntronicSNV - 7/7 1
1-116233649-C-A c.1315-91C>A - IntronicSNV - 7/7 1
1-116233741-C-T c.1316C>T p.A439V Missense 8/8 - 1
1-116233743-T-G c.1318T>G p.F440V Missense 8/8 - 1
1-116233746-C-T c.1321C>T p.L441= Synonymous 8/8 - 3
1-116233752-C-A c.1327C>A p.R443= Synonymous 8/8 - 1
1-116233752-C-T c.1327C>T p.R443W Missense 8/8 - 3
1-116233758-C-A c.1333C>A p.L445I Missense 8/8 - 1
1-116233765-C-T c.1340C>T p.A447V Missense 8/8 - 3
1-116233766-G-C c.1341G>C p.A447= Synonymous 8/8 - 1
1-116233773-AC-A c.1351del p.L451Cfs*21 Frameshift 8/8 - 1
1-116233790-G-A c.1365G>A p.K455= Synonymous 8/8 - 1
1-116233794-C-T c.1369C>T p.R457C Missense 8/8 - 1
1-116233795-GC-AA c.1370_1371delinsAA p.R457Q Missense 8/8 - 1
1-116233802-C-A c.1377C>A p.L459= Synonymous 8/8 - 1
1-116233802-C-G c.1377C>G p.L459= Synonymous 8/8 - 1
1-116233802-C-T c.1377C>T p.L459= Synonymous 8/8 - 1
1-116233804-C-T c.1379C>T p.S460F Missense 8/8 - 6
1-116233809-C-T c.1384C>T p.Q462* Nonsense 8/8 - 1
1-116233813-G-A c.1388G>A p.W463* Nonsense 8/8 - 1
1-116233814-G-A c.1389G>A p.W463* Nonsense 8/8 - 1
1-116233811-GTGGAGGCTTGTCAGTGA-G c.1389_1405del p.W463* Frameshift 8/8 - 1
1-116233815-AGG-CAT c.1390_1392delinsCAT p.R464H Missense 8/8 - 1
1-116233816-G-A c.1391G>A p.R464K Missense 8/8 - 1
1-116233819-T-G c.1394T>G p.L465R Missense 8/8 - 1
1-116233822-T-G c.1397T>G p.V466G Missense 8/8 - 1
1-116233826-T-G c.1401T>G p.S467R Missense 8/8 - 2
1-116233827-G-C c.1402G>C p.D468H Missense 8/8 - 1
1-116233827-G-T c.1402G>T p.D468Y Missense 8/8 - 1
1-116233829-T-A c.1404T>A p.D468E Missense 8/8 - 3
1-116233829-T-G c.1404T>G p.D468E Missense 8/8 - 3
1-116233839-A-T c.1414A>T p.T472S Missense 8/8 - 1
1-116233844-T-C c.1419T>C p.N473= Synonymous 8/8 - 1
1-116233851-CGG-TGT c.1426_1428delinsTGT p.R476C Missense 8/8 - 2
1-116233851-C-T c.1426C>T p.R476W Missense 8/8 - 4
1-116233852-G-T c.1427G>T p.R476L Missense 8/8 - 1
1-116233855-A-C c.1430A>C p.D477A Missense 8/8 - 1
1-116233856-T-C c.1431T>C p.D477= Synonymous 8/8 - 1
1-116233860-A-T c.1435A>T p.I479F Missense 8/8 - 1
1-116233864-T-C c.1439T>C p.V480A Missense 8/8 - 1
1-116233866-T-C c.1441T>C p.F481L Missense 8/8 - 1
1-116233868-C-A c.1443C>A p.F481L Missense 8/8 - 1
1-116233868-C-G c.1443C>G p.F481L Missense 8/8 - 1
1-116233867-T-G c.1442T>G p.F481C Missense 8/8 - 1
1-116233869-G-A c.1444G>A p.V482I Missense 8/8 - 1
1-116233872-C-T c.1447C>T p.L483F Missense 8/8 - 1
1-116233885-A-G c.1460A>G p.D487G Missense 8/8 - 1
1-116233887-T-A c.1462T>A p.F488I Missense 8/8 - 1
1-116233896-G-T c.1471G>T p.V491L Missense 8/8 - 1
1-116233903-A-G c.1478A>G p.N493S Missense 8/8 - 3
1-116233917-C-A c.1492C>A p.P498T Missense 8/8 - 1
1-116233917-C-T c.1492C>T p.P498S Missense 8/8 - 2
1-116233918-C-A c.1493C>A p.P498Q Missense 8/8 - 2
1-116233918-C-T c.1493C>T p.P498L Missense 8/8 - 2
1-116233930-T-A c.1505T>A p.L502H Missense 8/8 - 1
1-116233931-C-T c.1506C>T p.L502= Synonymous 8/8 - 1
1-116233935-G-A c.1510G>A p.E504K Missense 8/8 - 1
1-116233947-G-A c.1522G>A p.D508N Missense 8/8 - 3
1-116233955-A-G c.1530A>G p.K510= Synonymous 8/8 - 1
1-116233957-C-T c.1532C>T p.S511F Missense 8/8 - 3
1-116233960-A-C c.1535A>C p.H512P Missense 8/8 - 1
1-116233964-A-G c.1539A>G p.K513= Synonymous 8/8 - 1
1-116233967-T-C c.1542T>C p.F514= Synonymous 8/8 - 2
1-116233968-G-T c.1543G>T p.V515F Missense 8/8 - 10
1-116233970-C-T c.1545C>T p.V515= Synonymous 8/8 - 1
1-116233974-C-T c.1549C>T p.R517C Missense 8/8 - 6
1-116233975-G-A c.1550G>A p.R517H Missense 8/8 - 3
1-116233977-T-G c.1552T>G p.L518V Missense 8/8 - 1
1-116233986-G-C c.1561G>C p.E521Q Missense 8/8 - 4
1-116233989-A-G c.1564A>G p.T522A Missense 8/8 - 1
1-116233994-C-T c.1569C>T p.S523= Synonymous 8/8 - 2
1-116234083-T-A c.*83T>A - 3-UTRSNV 8/8 - 7
1-116234217-C-T c.*217C>T - 3-UTRSNV 8/8 - 1
1-116234300-C-T c.*300C>T - 3-UTRSNV 8/8 - 2
1-116234313-A-G c.*313A>G - 3-UTRSNV 8/8 - 8
1-116234313-A-T c.*313A>T - 3-UTRSNV 8/8 - 8
1-116234383-C-G c.*383C>G - 3-UTRSNV 8/8 - 1
1-116234416-G-A c.*416G>A - 3-UTRSNV 8/8 - 4
1-116234505-A-G c.*505A>G - 3-UTRSNV 8/8 - 7
1-116234694-C-A c.*694C>A - 3-UTRSNV 8/8 - 3
1-116235277-C-T c.*1277C>T - 3-UTRSNV 8/8 - 3
1-116235749-G-A c.*1749G>A - 3-UTRSNV 8/8 - 1
1-116235749-G-T c.*1749G>T - 3-UTRSNV 8/8 - 1
1-116236351-T-G c.*2351T>G - 3-UTRSNV 8/8 - 3
1-116236489-C-T c.*2489C>T - 3-UTRSNV 8/8 - 1
1-116236581-G-A c.*2581G>A - 3-UTRSNV 8/8 - 2
1-116236581-G-T c.*2581G>T - 3-UTRSNV 8/8 - 2
1-116237023-G-T c.*3023G>T - 3-UTRSNV 8/8 - 2
1-116237417-C-T c.*3417C>T - 3-UTRSNV 8/8 - 1
1-116237496-T-A c.*3496T>A - 3-UTRSNV 8/8 - 3
1-116238056-G-A c.*4056G>A - 3-UTRSNV 8/8 - 1
1-116238478-C-T c.*4478C>T - 3-UTRSNV 8/8 - 3
1-116238504-C-T c.*4504C>T - 3-UTRSNV 8/8 - 2
1-116239266-C-T c.*5266C>T - 3-UTRSNV 8/8 - 2
1-116239368-G-A c.*5368G>A - 3-UTRSNV 8/8 - 3
1-116239633-T-A c.*5633T>A - 3-UTRSNV 8/8 - 3
1-116239633-T-G c.*5633T>G - 3-UTRSNV 8/8 - 3
1-116239751-A-G c.*5751A>G - 3-UTRSNV 8/8 - 3
1-116239841-A-T c.*5841A>T - 3-UTRSNV 8/8 - 3
1-116239995-A-T c.*5995A>T - 3-UTRSNV 8/8 - 2
1-116240026-G-A c.*6026G>A - 3-UTRSNV 8/8 - 3
1-116240026-G-T c.*6026G>T - 3-UTRSNV 8/8 - 3
1-116240199-A-T c.*6199A>T - 3-UTRSNV 8/8 - 2
1-116240212-C-T c.*6212C>T - 3-UTRSNV 8/8 - 1
1-116240321-T-G c.*6321T>G - 3-UTRSNV 8/8 - 1
1-116240721-A-G c.*6721A>G - 3-UTRSNV 8/8 - 2