HMCN1

HMCN1 hemicentin 1

Annotation transcript: NM_031935.3

7779 unique variant annotations were identified in 1094 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
1-185703621-A-G c.-291A>G - IntergenicSNV 1/107 - 1
1-185703761-C-A c.-151C>A - 5-UTRSNV 1/107 - 1
1-185703761-C-G c.-151C>G - 5-UTRSNV 1/107 - 1
1-185703775-C-A c.-137C>A - 5-UTRSNV 1/107 - 1
1-185703912-A-C c.1A>C p.M1? Missense 1/107 - 1
1-185703913-T-A c.2T>A p.M1? Missense 1/107 - 2
1-185703916-T-C c.5T>C p.I2T Missense 1/107 - 1
1-185703916-TT-AG c.5_6delinsAG p.I2K Missense 1/107 - 1
1-185703917-T-A c.6T>A p.I2= Synonymous 1/107 - 2
1-185703917-T-C c.6T>C p.I2= Synonymous 1/107 - 2
1-185703917-T-G c.6T>G p.I2M Missense 1/107 - 1
1-185703919-C-T c.8C>T p.S3F Missense 1/107 - 2
1-185703922-G-A c.11G>A p.W4* Nonsense 1/107 - 1
1-185703923-G-A c.12G>A p.W4* Nonsense 1/107 - 1
1-185703924-G-A c.13G>A p.E5K Missense 1/107 - 1
1-185703926-A-T c.15A>T p.E5D Missense 1/107 - 1
1-185703927-GTT-ATG c.16_18delinsATG p.V6M Missense 1/107 - 1
1-185703933-C-T c.22C>T p.H8Y Missense 1/107 - 1
1-185703934-A-G c.23A>G p.H8R Missense 1/107 - 1
1-185703935-T-A c.24T>A p.H8Q Missense 1/107 - 1
1-185703935-T-C c.24T>C p.H8= Synonymous 1/107 - 1
1-185703939-G-A c.28G>A p.V10I Missense 1/107 - 2
1-185703941-A-C c.30A>C p.V10= Synonymous 1/107 - 2
1-185703941-A-G c.30A>G p.V10= Synonymous 1/107 - 2
1-185703941-A-T c.30A>T p.V10= Synonymous 1/107 - 2
1-185703942-TT-CG c.31_32delinsCG p.F11R Missense 1/107 - 13
1-185703947-G-A c.36G>A p.L12= Synonymous 1/107 - 3
1-185703947-G-C c.36G>C p.L12= Synonymous 1/107 - 4
1-185703948-TT-GC c.37_38delinsGC p.F13A Missense 1/107 - 1
1-185703949-T-C c.38T>C p.F13S Missense 1/107 - 1
1-185703951-G-A c.40G>A p.A14T Missense 1/107 - 1
1-185703951-GC-AA c.40_41delinsAA p.A14N Missense 1/107 - 1
1-185703951-GC-TA c.40_41delinsTA p.A14Y Missense 1/107 - 1
1-185703951-GCT-AAG c.40_42delinsAAG p.A14K Missense 1/107 - 3
1-185703951-GCT-ATG c.40_42delinsATG p.A14M Missense 1/107 - 1
1-185703951-GCT-TGG c.40_42delinsTGG p.A14W Missense 1/107 - 6
1-185703951-G-T c.40G>T p.A14S Missense 1/107 - 1
1-185703952-C-A c.41C>A p.A14D Missense 1/107 - 1
1-185703952-C-G c.41C>G p.A14G Missense 1/107 - 1
1-185703952-C-T c.41C>T p.A14V Missense 1/107 - 1
1-185703957-C-G c.46C>G p.L16V Missense 1/107 - 2
1-185703961-A-G c.50A>G p.Y17C Missense 1/107 - 2
1-185703961-A-T c.50A>T p.Y17F Missense 1/107 - 1
1-185703966-TC-AA c.55_56delinsAA p.S19N Missense 1/107 - 1
1-185703966-TC-CG c.55_56delinsCG p.S19R Missense 1/107 - 1
1-185703966-T-G c.55T>G p.S19A Missense 1/107 - 1
1-185703971-A-G c.60A>G p.L20= Synonymous 1/107 - 1
1-185703972-G-A c.61G>A p.A21T Missense 1/107 - 2
1-185703972-GCT-CAA c.61_63delinsCAA p.A21Q Missense 1/107 - 1
1-185703973-C-A c.62C>A p.A21D Missense 1/107 - 1
1-185703973-C-G c.62C>G p.A21G Missense 1/107 - 1
1-185703974-T-A c.63T>A p.A21= Synonymous 1/107 - 5
1-185703974-T-C c.63T>C p.A21= Synonymous 1/107 - 5
1-185703974-T-G c.63T>G p.A21= Synonymous 1/107 - 5
1-185703975-C-G c.64C>G p.Q22E Missense 1/107 - 1
1-185703975-C-T c.64C>T p.Q22* Nonsense 1/107 - 3
1-185703976-A-G c.65A>G p.Q22R Missense 1/107 - 1
1-185703978-G-A c.67G>A p.D23N Missense 1/107 - 1
1-185703980-T-A c.69T>A p.D23E Missense 1/107 - 1
1-185703980-T-G c.69T>G p.D23E Missense 1/107 - 1
1-185703981-G-C c.70G>C p.A24P Missense 1/107 - 1
1-185703981-GC-AG c.70_71delinsAG p.A24R Missense 1/107 - 1
1-185703981-GC-CT c.70_71delinsCT p.A24L Missense 1/107 - 1
1-185703981-GCG-AAC c.70_72delinsAAC p.A24N Missense 1/107 - 2
1-185703981-GCG-CAT c.70_72delinsCAT p.A24H Missense 1/107 - 3
1-185703981-GC-TA c.70_71delinsTA p.A24* Nonsense 1/107 - 2
1-185703981-G-T c.70G>T p.A24S Missense 1/107 - 1
1-185703982-C-A c.71C>A p.A24E Missense 1/107 - 1
1-185703982-CG-AC c.71_72delinsAC p.A24D Missense 1/107 - 4
1-185703982-C-T c.71C>T p.A24V Missense 1/107 - 2
1-185703983-G-A c.72G>A p.A24= Synonymous 1/107 - 2
1-185703983-G-C c.72G>C p.A24= Synonymous 1/107 - 1
1-185703983-G-T c.72G>T p.A24= Synonymous 1/107 - 1
1-185703984-AG-TT c.73_74delinsTT p.S25F Missense 1/107 - 2
1-185703986-C-A c.75C>A p.S25R Missense 1/107 - 1
1-185703986-C-T c.75C>T p.S25= Synonymous 1/107 - 1
1-185703987-C-T c.76C>T p.P26S Missense 1/107 - 2
1-185703988-C-T c.77C>T p.P26L Missense 1/107 - 1
1-185703991-A-C c.80A>C p.Q27P Missense 1/107 - 1
1-185703991-A-G c.80A>G p.Q27R Missense 1/107 - 1
1-185703991-A-T c.80A>T p.Q27L Missense 1/107 - 1
1-185703994-C-G c.83C>G p.S28* Nonsense 1/107 - 1
1-185703994-C-T c.83C>T p.S28L Missense 1/107 - 1
1-185703998-G-C c.87G>C p.E29D Missense 1/107 - 4
1-185703998-G-T c.87G>T p.E29D Missense 1/107 - 2
1-185703999-A-G c.88A>G p.I30V Missense 1/107 - 1
1-185704002-AGA-TGT c.91_93delinsTGT p.R31C Missense 1/107 - 1
1-185704005-G-C c.94G>C p.A32P Missense 1/107 - 2
1-185704005-GC-AA c.94_95delinsAA p.A32N Missense 1/107 - 1
1-185704005-GC-AT c.94_95delinsAT p.A32I Missense 1/107 - 1
1-185704006-C-G c.95C>G p.A32G Missense 1/107 - 1
1-185704007-T-C c.96T>C p.A32= Synonymous 1/107 - 1
1-185704008-G-A c.97G>A p.E33K Missense 1/107 - 1
1-185704010-G-C c.99G>C p.E33D Missense 1/107 - 1
1-185704010-G-T c.99G>T p.E33D Missense 1/107 - 1
1-185704012-A-T c.101A>T p.E34V Missense 1/107 - 1
1-185704013-A-C c.102A>C p.E34D Missense 1/107 - 4
1-185704013-A-T c.102A>T p.E34D Missense 1/107 - 3
1-185704014-A-T c.103A>T p.I35F Missense 1/107 - 1
1-185704017-C-T c.106C>T p.P36S Missense 1/107 - 7
1-185704018-C-A c.107C>A p.P36H Missense 1/107 - 1
1-185704018-C-T c.107C>T p.P36L Missense 1/107 - 2
1-185704019-C-A c.108C>A p.P36= Synonymous 1/107 - 2
1-185704019-C-G c.108C>G p.P36= Synonymous 1/107 - 1
1-185704019-C-T c.108C>T p.P36= Synonymous 1/107 - 1
1-185704020-G-A c.109G>A p.E37K Missense 1/107 - 4
1-185704021-A-G c.110A>G p.E37G Missense 1/107 - 1
1-185704022-G-A c.111G>A p.E37= Synonymous 1/107 - 1
1-185704022-G-C c.111G>C p.E37D Missense 1/107 - 1
1-185704022-G-T c.111G>T p.E37D Missense 1/107 - 1
1-185704023-G-A c.112G>A p.G38R Missense 1/107 - 1
1-185704024-GG-AC c.113_114delinsAC p.G38D Missense 1/107 - 1
1-185704024-G-T c.113G>T p.G38V Missense 1/107 - 1
1-185704025-G-A c.114G>A p.G38= Synonymous 1/107 - 1
1-185704025-G-C c.114G>C p.G38= Synonymous 1/107 - 1
1-185704025-G-T c.114G>T p.G38= Synonymous 1/107 - 2
1-185704021-AG-A c.115del p.A39Pfs*10 Frameshift 1/107 - 1
1-185704026-G-A c.115G>A p.A39T Missense 1/107 - 3
1-185704026-GC-AT c.115_116delinsAT p.A39I Missense 1/107 - 1
1-185704026-GC-TA c.115_116delinsTA p.A39Y Missense 1/107 - 1
1-185704027-C-G c.116C>G p.A39G Missense 1/107 - 1
1-185704028-C-A c.117C>A p.A39= Synonymous 1/107 - 2
1-185704028-C-G c.117C>G p.A39= Synonymous 1/107 - 2
1-185704028-C-T c.117C>T p.A39= Synonymous 1/107 - 2
1-185704032-A-C c.121A>C p.T41P Missense 1/107 - 1
1-185704032-A-T c.121A>T p.T41S Missense 1/107 - 1
1-185704033-C-A c.122C>A p.T41K Missense 1/107 - 1
1-185704034-G-A c.123G>A p.T41= Synonymous 1/107 - 1
1-185704034-G-GCA c.123_124insCA p.L42Hfs*8 Frameshift 1/107 - 1
1-185704035-T-A c.124T>A p.L42M Missense 1/107 - 3
1-185704037-G-C c.126G>C p.L42F Missense 1/107 - 1
1-185704037-G-T c.126G>T p.L42F Missense 1/107 - 2
1-185704038-G-C c.127G>C p.A43P Missense 1/107 - 1
1-185704038-GC-TA c.127_128delinsTA p.A43Y Missense 1/107 - 1
1-185704038-GCT-ATG c.127_129delinsATG p.A43M Missense 1/107 - 1
1-185704038-G-T c.127G>T p.A43S Missense 1/107 - 1
1-185704039-C-T c.128C>T p.A43V Missense 1/107 - 2
1-185704039-CT-AG c.128_129inv p.A43E Missense 1/107 - 1
1-185704043-T-C c.132T>C p.F44= Synonymous 1/107 - 1
1-185704044-G-A c.133G>A p.V45M Missense 1/107 - 1
1-185704044-GTG-ATC c.133_135delinsATC p.V45I Missense 1/107 - 1
1-185704045-T-A c.134T>A p.V45E Missense 1/107 - 1
1-185704050-G-C c.139G>C p.D47H Missense 1/107 - 1
1-185704050-G-T c.139G>T p.D47Y Missense 1/107 - 3
1-185704051-A-G c.140A>G p.D47G Missense 1/107 - 1
1-185704051-A-T c.140A>T p.D47V Missense 1/107 - 1
1-185704053-G-A c.142G>A p.V48M Missense 1/107 - 1
1-185704054-T-C c.143T>C p.V48A Missense 1/107 - 1
1-185704056-A-G c.145A>G p.T49A Missense 1/107 - 1
1-185704059-G-T c.148G>T p.G50C Missense 1/107 - 1
1-185704060-G-T c.149G>T p.G50V Missense 1/107 - 2
1-185704062-T-A c.151T>A p.S51T Missense 1/107 - 1
1-185704062-TC-CG c.151_152delinsCG p.S51R Missense 1/107 - 1
1-185704065-A-G c.154A>G p.M52V Missense 1/107 - 1
1-185704067-G-T c.156G>T p.M52I Missense 1/107 - 1
1-185704069-A-G c.158A>G p.Y53C Missense 1/107 - 1
1-185704069-A-T c.158A>T p.Y53F Missense 1/107 - 1
1-185704070-T-A c.159T>A p.Y53* Nonsense 1/107 - 2
1-185704070-T-G c.159T>G p.Y53* Nonsense 1/107 - 1
1-185704074-G-T c.163G>T p.D55Y Missense 1/107 - 1
1-185704075-A-G c.164A>G p.D55G Missense 1/107 - 1
1-185704076-T-A c.165T>A p.D55E Missense 1/107 - 1
1-185704077-T-G c.166T>G p.L56V Missense 1/107 - 1
1-185704077-TTTA-T c.166_168del p.L56del InFrameDeletion 1/107 - 1
1-185704081-T-A c.170T>A p.V57D Missense 1/107 - 1
1-185704083-C-G c.172C>G p.Q58E Missense 1/107 - 1
1-185704085-G-C c.174G>C p.Q58H Missense 1/107 - 1
1-185704085-G-T c.174G>T p.Q58H Missense 1/107 - 1
1-185704086-G-T c.175G>T p.V59L Missense 1/107 - 1
1-185704089-A-G c.178A>G p.I60V Missense 1/107 - 2
1-185704089-A-T c.178A>T p.I60F Missense 1/107 - 1
1-185704091-T-G c.180T>G p.I60M Missense 1/107 - 1
1-185704093-A-G c.182A>G p.E61G Missense 1/107 - 1
1-185704096-G-A c.185G>A p.G62E Missense 1/107 - 3
1-185704097-G-A c.186G>A p.G62= Synonymous 1/107 - 1
1-185704097-G-C c.186G>C p.G62= Synonymous 1/107 - 2
1-185704097-G-T c.186G>T p.G62= Synonymous 1/107 - 1
1-185704098-GCT-TGG c.187_189delinsTGG p.A63W Missense 1/107 - 1
1-185704098-G-T c.187G>T p.A63S Missense 1/107 - 1
1-185704099-C-T c.188C>T p.A63V Missense 1/107 - 1
1-185704102-C-T c.191C>T p.S64F Missense 1/107 - 1
1-185704104-A-G c.193A>G p.K65E Missense 1/107 - 1
1-185704108-T-G c.197T>G p.I66S Missense 1/107 - 1
1-185704110-T-C c.199T>C p.L67= Synonymous 1/107 - 1
1-185704110-T-G c.199T>G p.L67V Missense 1/107 - 2
1-185704110-TT-GC c.199_200delinsGC p.L67A Missense 1/107 - 1
1-185704112-G-A c.201G>A p.L67= Synonymous 1/107 - 1
1-185704111-T-C c.200T>C p.L67S Missense 1/107 - 2
1-185704111-T-G c.200T>G p.L67W Missense 1/107 - 2
1-185704113-G-A c.202G>A p.E68K Missense 1/107 - 1
1-185704113-G-C c.202G>C p.E68Q Missense 1/107 - 4
1-185704117-C-T c.206C>T p.T69M Missense 1/107 - 1
1-185704119-TC-AA c.208_209delinsAA p.S70N Missense 1/107 - 1
1-185704120-CT-AA c.209_210delinsAA p.S70* Nonsense 1/107 - 1
1-185704122-T-C c.211T>C p.L71= Synonymous 1/107 - 1
1-185704122-T-G c.211T>G p.L71V Missense 1/107 - 1
1-185704124-G-A c.213G>A p.L71= Synonymous 1/107 - 1
1-185704123-T-G c.212T>G p.L71W Missense 1/107 - 1
1-185704128-AGA-CAT c.217_219delinsCAT p.R73H Missense 1/107 - 1
1-185704128-AGA-TGG c.217_219delinsTGG p.R73W Missense 1/107 - 1
1-185704129-G-T c.218G>T p.R73I Missense 1/107 - 3
1-185704132-C-G c.221C>G p.P74R Missense 1/107 - 1
1-185704132-C-CT c.222dup p.K75* Nonsense 1/107 - 1
1-185704134-A-G c.223A>G p.K75E Missense 1/107 - 4
1-185704137-AGA-TGG c.226_228delinsTGG p.R76W Missense 1/107 - 1
1-185704138-G-A c.227G>A p.R76K Missense 1/107 - 4
1-185704138-G-T c.227G>T p.R76I Missense 1/107 - 5
1-185704140-C-A c.229C>A p.P77T Missense 1/107 - 1
1-185704140-C-T c.229C>T p.P77S Missense 1/107 - 1
1-185704141-C-T c.230C>T p.P77L Missense 1/107 - 1
1-185704142-T-A c.231T>A p.P77= Synonymous 1/107 - 5
1-185704142-T-C c.231T>C p.P77= Synonymous 1/107 - 1
1-185704142-T-G c.231T>G p.P77= Synonymous 1/107 - 1
1-185704141-CTCT-C c.232_234del p.L78del InFrameDeletion 1/107 - 1
1-185704146-T-C c.235T>C p.F79L Missense 1/107 - 2
1-185704148-C-A c.237C>A p.F79L Missense 1/107 - 2
1-185704148-C-G c.237C>G p.F79L Missense 1/107 - 2
1-185704148-C-T c.237C>T p.F79= Synonymous 1/107 - 4
1-185704153-T-G c.242T>G p.F81C Missense 1/107 - 1
1-185704155-G-C c.244G>C p.A82P Missense 1/107 - 1
1-185704157-G-T c.246G>T p.A82= Synonymous 1/107 - 2
1-185704158-T-G c.247T>G p.L83V Missense 1/107 - 1
1-185704161-G-A c.250G>A p.V84M Missense 1/107 - 1
1-185704163-G-T c.252G>T p.V84= Synonymous 1/107 - 1
1-185704167-T-C c.256T>C p.F86L Missense 1/107 - 1
1-185704169-C-T c.258C>T p.F86= Synonymous 1/107 - 1
1-185704170-C-G c.259C>G p.H87D Missense 1/107 - 1
1-185704170-C-T c.259C>T p.H87Y Missense 1/107 - 2
1-185704171-A-G c.260A>G p.H87R Missense 1/107 - 2
1-185704173-G-C c.262G>C p.D88H Missense 1/107 - 1
1-185704173-G-T c.262G>T p.D88Y Missense 1/107 - 1
1-185704175-T-G c.264T>G p.D88E Missense 1/107 - 1
1-185704178-A-C c.267A>C p.P89= Synonymous 1/107 - 1
1-185704178-A-G c.267A>G p.P89= Synonymous 1/107 - 1
1-185704178-A-T c.267A>T p.P89= Synonymous 1/107 - 1
1-185704179-G-A c.268G>A p.E90K Missense 1/107 - 1
1-185712316-C-T c.268+8137C>T - IntronicSNV - 1/106 1
1-185714178-TA-T c.268+10008del - IntronicDeletion - 1/106 1
1-185717782-G-T c.268+13603G>T - IntronicSNV - 1/106 1
1-185720494-GAA-G c.268+16318_268+16319del - IntronicDeletion - 1/106 1
1-185723352-C-T c.268+19173C>T - IntronicSNV - 1/106 1
1-185724616-C-T c.268+20437C>T - IntronicSNV - 1/106 1
1-185725456-C-G c.268+21277C>G - IntronicSNV - 1/106 1
1-185728840-CT-C c.268+24671del - IntronicDeletion - 1/106 1
1-185744080-G-A c.268+39901G>A - IntronicSNV - 1/106 1
1-185753643-T-A c.268+49464T>A - IntronicSNV - 1/106 1
1-185753643-T-C c.268+49464T>C - IntronicSNV - 1/106 1
1-185753642-CT-C c.268+49473del - IntronicDeletion - 1/106 1
1-185754367-G-C c.268+50188G>C - IntronicSNV - 1/106 2
1-185754847-C-T c.268+50668C>T - IntronicSNV - 1/106 1
1-185755032-T-A c.268+50853T>A - IntronicSNV - 1/106 1
1-185757100-C-A c.268+52921C>A - IntronicSNV - 1/106 1
1-185759508-T-A c.268+55329T>A - IntronicSNV - 1/106 1
1-185771541-G-A c.269-43617G>A - IntronicSNV - 1/106 1
1-185771541-G-T c.269-43617G>T - IntronicSNV - 1/106 1
1-185794883-G-A c.269-20275G>A - IntronicSNV - 1/106 1
1-185795239-G-A c.269-19919G>A - IntronicSNV - 1/106 1
1-185815063-A-G c.269-95A>G - IntronicSNV - 1/106 1
1-185815158-A-T c.269A>T p.E90V Missense 2/107 - 5
1-185815159-A-C c.270A>C p.E90D Missense 2/107 - 1
1-185815159-A-T c.270A>T p.E90D Missense 2/107 - 1
1-185815160-A-G c.271A>G p.I91V Missense 2/107 - 1
1-185815163-G-T c.274G>T p.G92C Missense 2/107 - 1
1-185815164-G-T c.275G>T p.G92V Missense 2/107 - 4
1-185815166-C-T c.277C>T p.P93S Missense 2/107 - 6
1-185815167-C-T c.278C>T p.P93L Missense 2/107 - 1
1-185815169-G-A c.280G>A p.V94M Missense 2/107 - 2
1-185815169-G-C c.280G>C p.V94L Missense 2/107 - 9
1-185815169-G-T c.280G>T p.V94L Missense 2/107 - 7
1-185815173-C-G c.284C>G p.T95R Missense 2/107 - 1
1-185815173-C-T c.284C>T p.T95I Missense 2/107 - 1
1-185815174-A-C c.285A>C p.T95= Synonymous 2/107 - 2
1-185815174-A-G c.285A>G p.T95= Synonymous 2/107 - 2
1-185815174-A-T c.285A>T p.T95= Synonymous 2/107 - 4
1-185815175-A-G c.286A>G p.I96V Missense 2/107 - 1
1-185815175-A-T c.286A>T p.I96F Missense 2/107 - 4
1-185815179-C-A c.290C>A p.T97N Missense 2/107 - 6
1-185815179-C-T c.290C>T p.T97I Missense 2/107 - 1
1-185815181-AC-GG c.292_293delinsGG p.T98G Missense 2/107 - 1
1-185815182-CA-TG c.293_294inv p.T98M Missense 2/107 - 1
1-185815182-C-T c.293C>T p.T98I Missense 2/107 - 1
1-185815184-G-A c.295G>A p.D99N Missense 2/107 - 1
1-185815184-GA-CG c.295_296delinsCG p.D99R Missense 2/107 - 1
1-185815184-GAT-CAA c.295_297delinsCAA p.D99Q Missense 2/107 - 1
1-185815184-G-C c.295G>C p.D99H Missense 2/107 - 1
1-185815185-A-G c.296A>G p.D99G Missense 2/107 - 1
1-185815186-T-A c.297T>A p.D99E Missense 2/107 - 1
1-185815186-T-G c.297T>G p.D99E Missense 2/107 - 1
1-185815187-C-A c.298C>A p.P100T Missense 2/107 - 1
1-185815191-A-G c.302A>G p.K101R Missense 2/107 - 1
1-185815192-G-C c.303G>C p.K101N Missense 2/107 - 2
1-185815192-G-T c.303G>T p.K101N Missense 2/107 - 2
1-185815196-T-C c.307T>C p.F103L Missense 2/107 - 1
1-185815196-T-G c.307T>G p.F103V Missense 2/107 - 1
1-185815199-C-A c.310C>A p.Q104K Missense 2/107 - 2
1-185815199-C-T c.310C>T p.Q104* Nonsense 2/107 - 1
1-185815204-T-A c.315T>A p.Y105* Nonsense 2/107 - 1
1-185815204-T-G c.315T>G p.Y105* Nonsense 2/107 - 1
1-185815205-G-A c.316G>A p.E106K Missense 2/107 - 3
1-185815205-G-T c.316G>T p.E106* Nonsense 2/107 - 1
1-185815211-A-T c.322A>T p.R108* Nonsense 2/107 - 1
1-185815214-G-A c.325G>A p.E109K Missense 2/107 - 1
1-185815214-G-T c.325G>T p.E109* Nonsense 2/107 - 2
1-185815215-A-G c.326A>G p.E109G Missense 2/107 - 1
1-185815216-A-C c.327A>C p.E109D Missense 2/107 - 1
1-185815222-T-C c.333T>C p.Y111= Synonymous 2/107 - 1
1-185815223-G-A c.334G>A p.V112I Missense 2/107 - 1
1-185815223-G-C c.334G>C p.V112L Missense 2/107 - 1
1-185815223-GTT-ATG c.334_336delinsATG p.V112M Missense 2/107 - 1
1-185815224-T-C c.335T>C p.V112A Missense 2/107 - 3
1-185815226-C-T c.337C>T p.Q113* Nonsense 2/107 - 2
1-185815227-A-G c.338A>G p.Q113R Missense 2/107 - 1
1-185815228-G-C c.339G>C p.Q113H Missense 2/107 - 1
1-185815228-G-T c.339G>T p.Q113H Missense 2/107 - 2
1-185815369-A-C c.339+141A>C - IntronicSNV - 2/106 1
1-185815372-T-C c.339+144T>C - IntronicSNV - 2/106 1
1-185817844-G-A c.339+2616G>A - IntronicSNV - 2/106 1
1-185819511-AT-A c.339+4292del - IntronicDeletion - 2/106 1
1-185821218-C-T c.339+5990C>T - IntronicSNV - 2/106 6
1-185833362-T-A c.340-240T>A - IntronicSNV - 2/106 2
1-185833362-T-C c.340-240T>C - IntronicSNV - 2/106 2
1-185833565-A-C c.340-37A>C - IntronicSNV - 2/106 6
1-185833573-G-A c.340-29G>A - IntronicSNV - 2/106 1
1-185833573-G-T c.340-29G>T - IntronicSNV - 2/106 1
1-185833604-T-A c.342T>A p.G114= Synonymous 3/107 - 1
1-185833604-T-C c.342T>C p.G114= Synonymous 3/107 - 1
1-185833604-T-G c.342T>G p.G114= Synonymous 3/107 - 1
1-185833608-G-A c.346G>A p.G116S Missense 3/107 - 1
1-185833608-G-C c.346G>C p.G116R Missense 3/107 - 1
1-185833610-T-C c.348T>C p.G116= Synonymous 3/107 - 2
1-185833611-G-A c.349G>A p.D117N Missense 3/107 - 2
1-185833616-C-T c.354C>T p.C118= Synonymous 3/107 - 1
1-185833617-C-T c.355C>T p.P119S Missense 3/107 - 1
1-185833619-A-C c.357A>C p.P119= Synonymous 3/107 - 1
1-185833619-A-G c.357A>G p.P119= Synonymous 3/107 - 1
1-185833619-A-T c.357A>T p.P119= Synonymous 3/107 - 1
1-185833620-G-A c.358G>A p.E120K Missense 3/107 - 2
1-185833620-G-T c.358G>T p.E120* Nonsense 3/107 - 1
1-185833626-AG-TT c.364_365delinsTT p.S122F Missense 3/107 - 1
1-185833626-AGT-TGA c.364_366delinsTGA p.S122* Nonsense 3/107 - 2
1-185833626-A-T c.364A>T p.S122C Missense 3/107 - 1
1-185833627-G-A c.365G>A p.S122N Missense 3/107 - 1
1-185833630-T-C c.368T>C p.I123T Missense 3/107 - 1
1-185833631-T-C c.369T>C p.I123= Synonymous 3/107 - 1
1-185833631-T-G c.369T>G p.I123M Missense 3/107 - 1
1-185833632-G-A c.370G>A p.G124R Missense 3/107 - 1
1-185833633-G-A c.371G>A p.G124E Missense 3/107 - 1
1-185833633-G-T c.371G>T p.G124V Missense 3/107 - 2
1-185833635-G-C c.373G>C p.A125P Missense 3/107 - 1
1-185833638-A-G c.376A>G p.I126V Missense 3/107 - 1
1-185833640-A-G c.378A>G p.I126M Missense 3/107 - 1
1-185833641-A-G c.379A>G p.K127E Missense 3/107 - 1
1-185833642-A-C c.380A>C p.K127T Missense 3/107 - 1
1-185833643-A-C c.381A>C p.K127N Missense 3/107 - 1
1-185833643-A-T c.381A>T p.K127N Missense 3/107 - 1
1-185833644-A-T c.382A>T p.I128F Missense 3/107 - 1
1-185833645-T-G c.383T>G p.I128S Missense 3/107 - 1
1-185833648-C-A c.386C>A p.A129D Missense 3/107 - 2
1-185833648-C-G c.386C>G p.A129G Missense 3/107 - 1
1-185833650-T-C c.388T>C p.L130= Synonymous 3/107 - 4
1-185833652-G-A c.390G>A p.L130= Synonymous 3/107 - 3
1-185833652-G-C c.390G>C p.L130F Missense 3/107 - 1
1-185833652-G-T c.390G>T p.L130F Missense 3/107 - 2
1-185833653-G-A c.391G>A p.E131K Missense 3/107 - 1
1-185833660-C-A c.398C>A p.S133Y Missense 3/107 - 8
1-185833662-C-G c.400C>G p.L134V Missense 3/107 - 1
1-185833662-C-T c.400C>T p.L134F Missense 3/107 - 2
1-185833664-T-G c.402T>G p.L134= Synonymous 3/107 - 1
1-185833665-C-T c.403C>T p.P135S Missense 3/107 - 1
1-185833666-C-A c.404C>A p.P135H Missense 3/107 - 2
1-185833668-G-T c.406G>T p.G136C Missense 3/107 - 2
1-185833669-G-T c.407G>T p.G136V Missense 3/107 - 1
1-185833671-T-C c.409T>C p.S137P Missense 3/107 - 1
1-185833672-C-A c.410C>A p.S137Y Missense 3/107 - 1
1-185833673-T-A c.411T>A p.S137= Synonymous 3/107 - 1
1-185833673-T-C c.411T>C p.S137= Synonymous 3/107 - 1
1-185833673-T-G c.411T>G p.S137= Synonymous 3/107 - 1
1-185833674-T-C c.412T>C p.F138L Missense 3/107 - 1
1-185833676-C-A c.414C>A p.F138L Missense 3/107 - 1
1-185833676-C-G c.414C>G p.F138L Missense 3/107 - 1
1-185833675-T-A c.413T>A p.F138Y Missense 3/107 - 1
1-185833679-C-A c.417C>A p.I139= Synonymous 3/107 - 1
1-185833679-C-T c.417C>T p.I139= Synonymous 3/107 - 1
1-185833683-G-A c.421G>A p.V141I Missense 3/107 - 1
1-185833686-T-C c.424T>C p.F142L Missense 3/107 - 1
1-185833688-C-A c.426C>A p.F142L Missense 3/107 - 1
1-185833688-C-G c.426C>G p.F142L Missense 3/107 - 1
1-185833687-T-C c.425T>C p.F142S Missense 3/107 - 2
1-185833690-C-A c.428C>A p.T143N Missense 3/107 - 1
1-185833690-C-T c.428C>T p.T143I Missense 3/107 - 1
1-185833690-C-CT c.429dup p.D144* Nonsense 3/107 - 1
1-185833693-A-C c.431A>C p.D144A Missense 3/107 - 1
1-185833694-T-A c.432T>A p.D144E Missense 3/107 - 2
1-185833694-T-G c.432T>G p.D144E Missense 3/107 - 1
1-185833696-C-G c.434C>G p.A145G Missense 3/107 - 1
1-185833697-T-A c.435T>A p.A145= Synonymous 3/107 - 1
1-185833697-T-C c.435T>C p.A145= Synonymous 3/107 - 1
1-185833697-T-G c.435T>G p.A145= Synonymous 3/107 - 1
1-185833698-C-A c.436C>A p.R146= Synonymous 3/107 - 1
1-185833698-CGG-TGT c.436_438delinsTGT p.R146C Missense 3/107 - 1
1-185833698-C-T c.436C>T p.R146W Missense 3/107 - 2
1-185833700-G-A c.438G>A p.R146= Synonymous 3/107 - 1
1-185833700-G-C c.438G>C p.R146= Synonymous 3/107 - 1
1-185833700-G-T c.438G>T p.R146= Synonymous 3/107 - 1
1-185833699-G-A c.437G>A p.R146Q Missense 3/107 - 8
1-185833699-GG-AT c.437_438delinsAT p.R146H Missense 3/107 - 1
1-185833701-T-G c.439T>G p.S147A Missense 3/107 - 1
1-185833702-CC-AA c.440_441delinsAA p.S147* Nonsense 3/107 - 1
1-185833702-C-T c.440C>T p.S147F Missense 3/107 - 1
1-185833704-A-G c.442A>G p.K148E Missense 3/107 - 1
1-185833705-A-G c.443A>G p.K148R Missense 3/107 - 1
1-185833707-G-A c.445G>A p.D149N Missense 3/107 - 1
1-185833708-A-G c.446A>G p.D149G Missense 3/107 - 1
1-185833711-A-C c.449A>C p.Y150S Missense 3/107 - 9
1-185833712-C-A c.450C>A p.Y150* Nonsense 3/107 - 1
1-185833713-C-T c.451C>T p.R151W Missense 3/107 - 1
1-185833715-G-T c.453G>T p.R151= Synonymous 3/107 - 1
1-185833716-C-A c.454C>A p.L152I Missense 3/107 - 4
1-185833716-C-T c.454C>T p.L152F Missense 3/107 - 2
1-185833720-C-T c.458C>T p.T153I Missense 3/107 - 3
1-185833721-C-A c.459C>A p.T153= Synonymous 3/107 - 1
1-185833721-C-G c.459C>G p.T153= Synonymous 3/107 - 1
1-185833721-C-T c.459C>T p.T153= Synonymous 3/107 - 1
1-185833722-C-G c.460C>G p.H154D Missense 3/107 - 1
1-185833722-C-T c.460C>T p.H154Y Missense 3/107 - 1
1-185833723-A-T c.461A>T p.H154L Missense 3/107 - 2
1-185833725-G-T c.463G>T p.E155* Nonsense 3/107 - 1
1-185833726-A-T c.464A>T p.E155V Missense 3/107 - 1
1-185833727-G-C c.465G>C p.E155D Missense 3/107 - 1
1-185833727-G-T c.465G>T p.E155D Missense 3/107 - 1
1-185833728-G-A c.466G>A p.V156M Missense 3/107 - 1
1-185833728-G-C c.466G>C p.V156L Missense 3/107 - 4
1-185833728-G-T c.466G>T p.V156L Missense 3/107 - 3
1-185833729-T-C c.467T>C p.V156A Missense 3/107 - 1
1-185833731-C-G c.469C>G p.L157V Missense 3/107 - 1
1-185833738-T-A c.476T>A p.L159H Missense 3/107 - 1
1-185833738-T-C c.476T>C p.L159P Missense 3/107 - 1
1-185833738-T-G c.476T>G p.L159R Missense 3/107 - 2
1-185833739-T-A c.477T>A p.L159= Synonymous 3/107 - 1
1-185833739-T-C c.477T>C p.L159= Synonymous 3/107 - 1
1-185833739-T-G c.477T>G p.L159= Synonymous 3/107 - 1
1-185833741-T-A c.479T>A p.I160N Missense 3/107 - 1
1-185833741-T-C c.479T>C p.I160T Missense 3/107 - 1
1-185833743-C-T c.481C>T p.Q161* Nonsense 3/107 - 1
1-185833743-CA-C c.483del p.Q161Hfs*11 Frameshift 3/107 - 1
1-185833752-C-T c.490C>T p.Q164* Nonsense 3/107 - 1
1-185833753-A-C c.491A>C p.Q164P Missense 3/107 - 1
1-185833754-G-C c.492G>C p.Q164H Missense 3/107 - 1
1-185833754-G-T c.492G>T p.Q164H Missense 3/107 - 1
1-185833757-A-C c.495A>C p.S165= Synonymous 3/107 - 1
1-185834864-T-A c.499-9T>A - IntronicSNV - 3/106 1
1-185834874-T-G c.500T>G p.V167G Missense 4/107 - 1
1-185834875-C-G c.501C>G p.V167= Synonymous 4/107 - 1
1-185834875-C-T c.501C>T p.V167= Synonymous 4/107 - 4
1-185834876-G-A c.502G>A p.V168I Missense 4/107 - 1
1-185834876-G-T c.502G>T p.V168L Missense 4/107 - 1
1-185834877-T-G c.503T>G p.V168G Missense 4/107 - 1
1-185834881-T-C c.507T>C p.F169= Synonymous 4/107 - 1
1-185834882-G-A c.508G>A p.V170I Missense 4/107 - 1
1-185834882-G-T c.508G>T p.V170F Missense 4/107 - 3
1-185834883-T-C c.509T>C p.V170A Missense 4/107 - 1
1-185834885-C-A c.511C>A p.L171M Missense 4/107 - 1
1-185834885-C-T c.511C>T p.L171= Synonymous 4/107 - 1
1-185834889-C-A c.515C>A p.T172N Missense 4/107 - 1
1-185834891-G-A c.517G>A p.G173R Missense 4/107 - 1
1-185834892-GA-AC c.518_519delinsAC p.G173D Missense 4/107 - 1
1-185834894-G-A c.520G>A p.D174N Missense 4/107 - 1
1-185834895-A-G c.521A>G p.D174G Missense 4/107 - 1
1-185834899-T-C c.525T>C p.C175= Synonymous 4/107 - 1
1-185834900-G-C c.526G>C p.D176H Missense 4/107 - 1
1-185834900-G-T c.526G>T p.D176Y Missense 4/107 - 1
1-185834902-T-C c.528T>C p.D176= Synonymous 4/107 - 1
1-185834903-G-A c.529G>A p.D177N Missense 4/107 - 3
1-185834906-AGG-CAT c.532_534delinsCAT p.R178H Missense 4/107 - 1
1-185834907-G-A c.533G>A p.R178K Missense 4/107 - 1
1-185834907-G-C c.533G>C p.R178T Missense 4/107 - 1
1-185834906-A-C c.532A>C p.R178= Synonymous 4/107 - 1
1-185834908-G-A c.534G>A p.R178= Synonymous 4/107 - 1
1-185834909-A-C c.535A>C p.T179P Missense 4/107 - 1
1-185834910-C-T c.536C>T p.T179I Missense 4/107 - 1
1-185834911-C-A c.537C>A p.T179= Synonymous 4/107 - 1
1-185834911-C-G c.537C>G p.T179= Synonymous 4/107 - 1
1-185834911-C-T c.537C>T p.T179= Synonymous 4/107 - 1
1-185834909-AC-A c.538del p.H180Ifs*30 Frameshift 4/107 - 1
1-185834912-C-A c.538C>A p.H180N Missense 4/107 - 2
1-185834918-G-A c.544G>A p.G182R Missense 4/107 - 2
1-185834918-G-C c.544G>C p.G182R Missense 4/107 - 1
1-185834918-GG-AA c.544_545delinsAA p.G182K Missense 4/107 - 3
1-185834919-G-A c.545G>A p.G182E Missense 4/107 - 2
1-185834919-G-C c.545G>C p.G182A Missense 4/107 - 2
1-185834919-G-T c.545G>T p.G182V Missense 4/107 - 1
1-185834921-AT-A c.547del p.Y183Ifs*27 Frameshift 4/107 - 1
1-185834927-G-T c.553G>T p.V185F Missense 4/107 - 1
1-185834929-C-A c.555C>A p.V185= Synonymous 4/107 - 2
1-185834929-C-G c.555C>G p.V185= Synonymous 4/107 - 2
1-185834929-C-T c.555C>T p.V185= Synonymous 4/107 - 2
1-185834930-T-A c.556T>A p.Y186N Missense 4/107 - 2
1-185834931-A-G c.557A>G p.Y186C Missense 4/107 - 1
1-185834933-G-A c.559G>A p.E187K Missense 4/107 - 1
1-185834933-G-T c.559G>T p.E187* Nonsense 4/107 - 2
1-185834935-A-G c.561A>G p.E187= Synonymous 4/107 - 1
1-185834937-A-G c.563A>G p.E188G Missense 4/107 - 1
1-185834938-A-C c.564A>C p.E188D Missense 4/107 - 1
1-185834938-A-T c.564A>T p.E188D Missense 4/107 - 1
1-185834941-T-A c.567T>A p.I189= Synonymous 4/107 - 3
1-185834941-T-C c.567T>C p.I189= Synonymous 4/107 - 4
1-185834942-G-A c.568G>A p.A190T Missense 4/107 - 1
1-185834945-T-A c.571T>A p.S191T Missense 4/107 - 1
1-185834945-T-C c.571T>C p.S191P Missense 4/107 - 1
1-185834946-C-T c.572C>T p.S191F Missense 4/107 - 1
1-185834948-A-G c.574A>G p.T192A Missense 4/107 - 1
1-185834948-A-T c.574A>T p.T192S Missense 4/107 - 1
1-185834950-A-C c.576A>C p.T192= Synonymous 4/107 - 4
1-185834950-A-G c.576A>G p.T192= Synonymous 4/107 - 2
1-185834950-A-T c.576A>T p.T192= Synonymous 4/107 - 2
1-185834951-A-G c.577A>G p.S193G Missense 4/107 - 1
1-185834952-G-C c.578G>C p.S193T Missense 4/107 - 1
1-185834957-G-A c.583G>A p.G195S Missense 4/107 - 1
1-185834957-G-T c.583G>T p.G195C Missense 4/107 - 1
1-185834958-G-A c.584G>A p.G195D Missense 4/107 - 2
1-185834960-C-A c.586C>A p.Q196K Missense 4/107 - 1
1-185834960-C-T c.586C>T p.Q196* Nonsense 4/107 - 2
1-185834963-GTG-ATC c.589_591delinsATC p.V197I Missense 4/107 - 1
1-185834964-T-C c.590T>C p.V197A Missense 4/107 - 2
1-185834968-C-T c.594C>T p.F198= Synonymous 4/107 - 1
1-185834972-C-G c.598C>G p.L200V Missense 4/107 - 1
1-185834972-C-T c.598C>T p.L200= Synonymous 4/107 - 1
1-185834974-G-A c.600G>A p.L200= Synonymous 4/107 - 1
1-185834974-G-C c.600G>C p.L200= Synonymous 4/107 - 1
1-185834974-G-T c.600G>T p.L200= Synonymous 4/107 - 1
1-185834975-G-A c.601G>A p.D201N Missense 4/107 - 2
1-185834975-G-C c.601G>C p.D201H Missense 4/107 - 1
1-185834976-A-G c.602A>G p.D201G Missense 4/107 - 6
1-185834982-A-C c.608A>C p.K203T Missense 4/107 - 2
1-185834977-C-CA c.609dup p.Q204Tfs*3 Frameshift 4/107 - 1
1-185834983-A-C c.609A>C p.K203N Missense 4/107 - 1
1-185834983-A-T c.609A>T p.K203N Missense 4/107 - 1
1-185834984-C-A c.610C>A p.Q204K Missense 4/107 - 2
1-185834986-A-T c.612A>T p.Q204H Missense 4/107 - 1
1-185834987-G-A c.613G>A p.V205I Missense 4/107 - 1
1-185834992-T-C c.618T>C p.N206= Synonymous 4/107 - 4
1-185834993-G-C c.619G>C p.E207Q Missense 4/107 - 1
1-185835000-GT-G c.621+8del - IntronicDeletion - 4/106 1
1-185835012-G-C c.621+17G>C - IntronicSNV - 4/106 1
1-185835439-G-T c.621+444G>T - IntronicSNV - 4/106 1
1-185839169-A-T c.621+4174A>T - IntronicSNV - 4/106 1
1-185841389-CT-C c.621+6403del - IntronicDeletion - 4/106 1
1-185841410-G-A c.621+6415G>A - IntronicSNV - 4/106 1
1-185843216-GT-G c.621+8230del - IntronicDeletion - 4/106 1
1-185843700-G-A c.621+8705G>A - IntronicSNV - 4/106 2
1-185849364-G-A c.621+14369G>A - IntronicSNV - 4/106 1
1-185853010-G-A c.621+18015G>A - IntronicSNV - 4/106 1
1-185860976-C-T c.622-17493C>T - IntronicSNV - 4/106 1
1-185866844-G-A c.622-11625G>A - IntronicSNV - 4/106 2
1-185866844-G-C c.622-11625G>C - IntronicSNV - 4/106 2
1-185866844-G-T c.622-11625G>T - IntronicSNV - 4/106 2
1-185878437-A-C c.622-32A>C - IntronicSNV - 4/106 1
1-185878469-G-T c.622G>T p.V208L Missense 5/107 - 1
1-185878472-T-C c.625T>C p.L209= Synonymous 5/107 - 1
1-185878477-A-G c.630A>G p.K210= Synonymous 5/107 - 1
1-185878478-T-A c.631T>A p.W211R Missense 5/107 - 1
1-185878479-G-T c.632G>T p.W211L Missense 5/107 - 3
1-185878481-GTA-ATG c.634_636delinsATG p.V212M Missense 5/107 - 2
1-185878482-T-C c.635T>C p.V212A Missense 5/107 - 1
1-185878484-G-A c.637G>A p.E213K Missense 5/107 - 2
1-185878487-G-A c.640G>A p.E214K Missense 5/107 - 2
1-185878487-G-T c.640G>T p.E214* Nonsense 5/107 - 1
1-185878490-G-C c.643G>C p.A215P Missense 5/107 - 1
1-185878491-C-A c.644C>A p.A215E Missense 5/107 - 1
1-185878495-A-C c.648A>C p.V216= Synonymous 5/107 - 1
1-185878495-A-G c.648A>G p.V216= Synonymous 5/107 - 1
1-185878495-A-T c.648A>T p.V216= Synonymous 5/107 - 1
1-185878499-G-T c.652G>T p.A218S Missense 5/107 - 1
1-185878501-C-A c.654C>A p.A218= Synonymous 5/107 - 1
1-185878501-C-G c.654C>G p.A218= Synonymous 5/107 - 1
1-185878501-C-T c.654C>T p.A218= Synonymous 5/107 - 1
1-185878503-C-G c.656C>G p.S219C Missense 5/107 - 3
1-185878509-T-C c.662T>C p.V221A Missense 5/107 - 2
1-185878509-T-G c.662T>G p.V221G Missense 5/107 - 4
1-185878511-C-A c.664C>A p.H222N Missense 5/107 - 1
1-185878513-C-T c.666C>T p.H222= Synonymous 5/107 - 2
1-185878514-C-T c.667C>T p.L223F Missense 5/107 - 3
1-185878517-TT-AG c.670_671delinsAG p.L224R Missense 5/107 - 1
1-185878519-A-C c.672A>C p.L224F Missense 5/107 - 1
1-185878519-A-T c.672A>T p.L224F Missense 5/107 - 1
1-185878523-A-G c.676A>G p.T226A Missense 5/107 - 3
1-185878528-T-C c.681T>C p.D227= Synonymous 5/107 - 1
1-185878530-A-G c.683A>G p.H228R Missense 5/107 - 1
1-185878533-T-C c.686T>C p.L229S Missense 5/107 - 1
1-185878535-G-C c.688G>C p.E230Q Missense 5/107 - 1
1-185878538-C-T c.691C>T p.Q231* Nonsense 5/107 - 1
1-185878539-A-T c.692A>T p.Q231L Missense 5/107 - 1
1-185878540-G-C c.693G>C p.Q231H Missense 5/107 - 1
1-185878541-G-A c.694G>A p.A232T Missense 5/107 - 1
1-185878542-C-T c.695C>T p.A232V Missense 5/107 - 4
1-185878544-G-C c.697G>C p.V233L Missense 5/107 - 1
1-185878547-A-G c.700A>G p.N234D Missense 5/107 - 3
1-185878550-A-T c.703A>T p.T235S Missense 5/107 - 1
1-185878551-C-G c.704C>G p.T235S Missense 5/107 - 1
1-185878551-C-T c.704C>T p.T235I Missense 5/107 - 1
1-185878554-G-A c.707G>A p.W236* Nonsense 5/107 - 1
1-185878555-G-GT c.708_709insT p.R237* Nonsense 5/107 - 1
1-185878556-AGA-CAT c.709_711delinsCAT p.R237H Missense 5/107 - 1
1-185878557-G-A c.710G>A p.R237K Missense 5/107 - 1
1-185878557-G-C c.710G>C p.R237T Missense 5/107 - 1
1-185878557-G-T c.710G>T p.R237I Missense 5/107 - 1
1-185878558-A-T c.711A>T p.R237S Missense 5/107 - 1
1-185878559-AT-A c.714del p.P239Lfs*6 Frameshift 5/107 - 1
1-185878560-TTCC-T c.715_717del p.P239del InFrameDeletion 5/107 - 1
1-185878563-C-A c.716C>A p.P239H Missense 5/107 - 1
1-185878569-A-G c.722A>G p.D241G Missense 5/107 - 1
1-185878571-C-A c.724C>A p.P242T Missense 5/107 - 1
1-185878571-C-T c.724C>T p.P242S Missense 5/107 - 9
1-185878572-C-T c.725C>T p.P242L Missense 5/107 - 1
1-185878573-C-T c.726C>T p.P242= Synonymous 5/107 - 2
1-185878573-C-CA c.727dup p.S243Kfs*17 Frameshift 5/107 - 2
1-185878574-A-T c.727A>T p.S243C Missense 5/107 - 1
1-185878575-G-T c.728G>T p.S243I Missense 5/107 - 1
1-185878577-C-CT c.731dup p.K245Efs*15 Frameshift 5/107 - 1
1-185878577-C-T c.730C>T p.L244= Synonymous 5/107 - 1
1-185878579-G-A c.732G>A p.L244= Synonymous 5/107 - 2
1-185878579-G-C c.732G>C p.L244= Synonymous 5/107 - 2
1-185878579-G-GT c.732_733insT p.K245* Nonsense 5/107 - 1
1-185878579-G-T c.732G>T p.L244= Synonymous 5/107 - 1
1-185878583-G-A c.736G>A p.E246K Missense 5/107 - 4
1-185878584-A-T c.737A>T p.E246V Missense 5/107 - 5
1-185878585-G-C c.738G>C p.E246D Missense 5/107 - 1
1-185878585-G-T c.738G>T p.E246D Missense 5/107 - 1
1-185878586-G-T c.739G>T p.V247F Missense 5/107 - 2
1-185878587-T-C c.740T>C p.V247A Missense 5/107 - 1
1-185878592-G-C c.745G>C p.V249L Missense 5/107 - 1
1-185878592-G-T c.745G>T p.V249L Missense 5/107 - 1
1-185878593-T-C c.746T>C p.V249A Missense 5/107 - 1
1-185878597-T-C c.750T>C p.S250= Synonymous 5/107 - 1
1-185878598-T-A c.751T>A p.L251M Missense 5/107 - 1
1-185878601-A-G c.754A>G p.S252G Missense 5/107 - 5
1-185878602-G-C c.755G>C p.S252T Missense 5/107 - 1
1-185878605-G-C c.758G>C p.G253A Missense 5/107 - 1
1-185878606-G-A c.759G>A p.G253= Synonymous 5/107 - 2
1-185878606-G-T c.759G>T p.G253= Synonymous 5/107 - 1
1-185878608-C-T c.761C>T p.P254L Missense 5/107 - 1
1-185878609-T-A c.762T>A p.P254= Synonymous 5/107 - 1
1-185878609-T-C c.762T>C p.P254= Synonymous 5/107 - 1
1-185878609-T-G c.762T>G p.P254= Synonymous 5/107 - 1
1-185878610-T-C c.763T>C p.S255P Missense 5/107 - 1
1-185878611-C-G c.764C>G p.S255C Missense 5/107 - 1
1-185878611-C-T c.764C>T p.S255F Missense 5/107 - 4
1-185878613-C-T c.766C>T p.P256S Missense 5/107 - 1
1-185878614-C-A c.767C>A p.P256Q Missense 5/107 - 4
1-185878614-C-T c.767C>T p.P256L Missense 5/107 - 3
1-185878616-A-G c.769A>G p.M257V Missense 5/107 - 1
1-185878617-T-A c.770T>A p.M257K Missense 5/107 - 2
1-185878618-G-A c.771G>A p.M257I Missense 5/107 - 1
1-185878618-G-C c.771G>C p.M257I Missense 5/107 - 1
1-185878618-G-T c.771G>T p.M257I Missense 5/107 - 1
1-185878619-A-T c.772A>T p.I258F Missense 5/107 - 1
1-185878621-T-A c.774T>A p.I258= Synonymous 5/107 - 1
1-185878621-T-C c.774T>C p.I258= Synonymous 5/107 - 2
1-185878622-G-A c.775G>A p.E259K Missense 5/107 - 2
1-185878625-A-T c.778A>T p.I260F Missense 5/107 - 1
1-185878626-T-C c.779T>C p.I260T Missense 5/107 - 1
1-185878627-T-A c.780T>A p.I260= Synonymous 5/107 - 2
1-185878627-T-C c.780T>C p.I260= Synonymous 5/107 - 1
1-185878628-C-T c.781C>T p.R261C Missense 5/107 - 5
1-185878629-G-A c.782G>A p.R261H Missense 5/107 - 6
1-185878629-GC-AA c.782_783delinsAA p.R261Q Missense 5/107 - 1
1-185878629-G-T c.782G>T p.R261L Missense 5/107 - 2
1-185878632-A-G c.785A>G p.N262S Missense 5/107 - 1
1-185878633-T-A c.786T>A p.N262K Missense 5/107 - 6
1-185878633-T-G c.786T>G p.N262K Missense 5/107 - 4
1-185878634-C-T c.787C>T p.P263S Missense 5/107 - 1
1-185878635-C-T c.788C>T p.P263L Missense 5/107 - 1
1-185878640-G-A c.793G>A p.G265R Missense 5/107 - 1
1-185878640-G-C c.793G>C p.G265R Missense 5/107 - 1
1-185878640-G-T c.793G>T p.G265W Missense 5/107 - 1
1-185880806-G-A c.794G>A p.G265E Missense 6/107 - 1
1-185880806-G-C c.794G>C p.G265A Missense 6/107 - 1
1-185880811-C-T c.799C>T p.L267= Synonymous 6/107 - 1
1-185880813-G-A c.801G>A p.L267= Synonymous 6/107 - 2
1-185880813-G-C c.801G>C p.L267= Synonymous 6/107 - 1
1-185880813-G-T c.801G>T p.L267= Synonymous 6/107 - 1
1-185880815-T-C c.803T>C p.I268T Missense 6/107 - 1
1-185880816-A-G c.804A>G p.I268M Missense 6/107 - 1
1-185880818-A-C c.806A>C p.K269T Missense 6/107 - 2
1-185880820-A-G c.808A>G p.K270E Missense 6/107 - 1
1-185880815-TA-T c.809del p.K270Rfs*9 Frameshift 6/107 - 3
1-185880821-A-G c.809A>G p.K270R Missense 6/107 - 1
1-185880823-G-A c.811G>A p.G271R Missense 6/107 - 2
1-185880830-G-T c.818G>T p.G273V Missense 6/107 - 1
1-185880832-C-A c.820C>A p.L274M Missense 6/107 - 1
1-185880833-T-C c.821T>C p.L274P Missense 6/107 - 2
1-185880832-C-T c.820C>T p.L274= Synonymous 6/107 - 1
1-185880834-G-A c.822G>A p.L274= Synonymous 6/107 - 1
1-185880834-G-C c.822G>C p.L274= Synonymous 6/107 - 1
1-185880834-G-T c.822G>T p.L274= Synonymous 6/107 - 1
1-185880835-C-A c.823C>A p.H275N Missense 6/107 - 2
1-185880836-A-C c.824A>C p.H275P Missense 6/107 - 2
1-185880838-G-T c.826G>T p.E276* Nonsense 6/107 - 1
1-185880839-A-G c.827A>G p.E276G Missense 6/107 - 1
1-185880840-G-A c.828G>A p.E276= Synonymous 6/107 - 2
1-185880841-C-G c.829C>G p.L277V Missense 6/107 - 1
1-185880841-CTA-TTT c.829_831delinsTTT p.L277F Missense 6/107 - 1
1-185880845-T-C c.833T>C p.L278S Missense 6/107 - 6
1-185880846-A-T c.834A>T p.L278F Missense 6/107 - 1
1-185880847-A-T c.835A>T p.N279Y Missense 6/107 - 1
1-185880848-A-G c.836A>G p.N279S Missense 6/107 - 1
1-185880848-A-T c.836A>T p.N279I Missense 6/107 - 1
1-185880850-A-G c.838A>G p.I280V Missense 6/107 - 1
1-185880850-A-T c.838A>T p.I280F Missense 6/107 - 1
1-185880851-T-C c.839T>C p.I280T Missense 6/107 - 1
1-185880852-C-A c.840C>A p.I280= Synonymous 6/107 - 2
1-185880852-C-T c.840C>T p.I280= Synonymous 6/107 - 3
1-185880856-A-C c.844A>C p.N282H Missense 6/107 - 1
1-185880857-A-G c.845A>G p.N282S Missense 6/107 - 1
1-185880860-C-T c.848C>T p.S283F Missense 6/107 - 2
1-185880862-G-A c.850G>A p.A284T Missense 6/107 - 4
1-185880864-C-A c.852C>A p.A284= Synonymous 6/107 - 1
1-185880864-C-G c.852C>G p.A284= Synonymous 6/107 - 1
1-185880864-C-T c.852C>T p.A284= Synonymous 6/107 - 1
1-185880865-A-G c.853A>G p.K285E Missense 6/107 - 1
1-185880868-G-C c.856G>C p.V286L Missense 6/107 - 3
1-185880868-G-T c.856G>T p.V286L Missense 6/107 - 4
1-185880874-A-C c.862A>C p.N288H Missense 6/107 - 1
1-185880877-GTG-ATC c.865_867delinsATC p.V289I Missense 6/107 - 1
1-185880880-A-G c.868A>G p.K290E Missense 6/107 - 1
1-185880881-A-G c.869A>G p.K290R Missense 6/107 - 2
1-185880884-A-G c.872A>G p.E291G Missense 6/107 - 1
1-185880885-G-C c.873G>C p.E291D Missense 6/107 - 1
1-185880885-G-T c.873G>T p.E291D Missense 6/107 - 1
1-185880886-C-T c.874C>T p.P292S Missense 6/107 - 1
1-185880887-C-T c.875C>T p.P292L Missense 6/107 - 1
1-185880891-G-C c.879G>C p.E293D Missense 6/107 - 1
1-185880891-G-T c.879G>T p.E293D Missense 6/107 - 1
1-185880892-G-A c.880G>A p.A294T Missense 6/107 - 2
1-185880892-G-C c.880G>C p.A294P Missense 6/107 - 1
1-185880893-C-A c.881C>A p.A294D Missense 6/107 - 1
1-185880895-G-A c.883G>A p.G295R Missense 6/107 - 1
1-185880896-G-C c.884G>C p.G295A Missense 6/107 - 1
1-185880899-T-C c.887T>C p.M296T Missense 6/107 - 1
1-185880900-G-A c.888G>A p.M296I Missense 6/107 - 3
1-185880900-G-C c.888G>C p.M296I Missense 6/107 - 3
1-185880900-G-T c.888G>T p.M296I Missense 6/107 - 2
1-185880905-C-A c.893C>A p.T298K Missense 6/107 - 1
1-185880905-C-T c.893C>T p.T298I Missense 6/107 - 1
1-185880912-G-C c.900G>C p.K300N Missense 6/107 - 1
1-185880912-G-T c.900G>T p.K300N Missense 6/107 - 1
1-185880916-C-T c.900+4C>T - IntronicSNV - 6/106 1
1-185880917-G-A c.900+5G>A - IntronicSNV - 6/106 1
1-185880918-G-A c.900+6G>A - IntronicSNV - 6/106 1
1-185880929-A-G c.900+17A>G - IntronicSNV - 6/106 1
1-185881041-G-A c.900+129G>A - IntronicSNV - 6/106 1
1-185882148-GT-G c.900+1246del - IntronicDeletion - 6/106 1
1-185882159-A-T c.900+1247A>T - IntronicSNV - 6/106 1
1-185885717-T-G c.900+4805T>G - IntronicSNV - 6/106 1
1-185891385-T-G c.901-126T>G - IntronicSNV - 6/106 1
1-185891409-G-A c.901-102G>A - IntronicSNV - 6/106 2
1-185891409-G-T c.901-102G>T - IntronicSNV - 6/106 2
1-185891513-C-A c.903C>A p.T301= Synonymous 7/107 - 1
1-185891513-C-G c.903C>G p.T301= Synonymous 7/107 - 1
1-185891513-C-T c.903C>T p.T301= Synonymous 7/107 - 2
1-185891515-C-A c.905C>A p.S302* Nonsense 7/107 - 1
1-185891515-CA-AT c.905_906delinsAT p.S302Y Missense 7/107 - 1
1-185891515-C-G c.905C>G p.S302* Nonsense 7/107 - 1
1-185891515-C-T c.905C>T p.S302L Missense 7/107 - 1
1-185891518-G-C c.908G>C p.S303T Missense 7/107 - 1
1-185891522-GT-G c.912del p.S304Rfs*56 Frameshift 7/107 - 1
1-185891523-G-A c.913G>A p.G305R Missense 7/107 - 1
1-185891524-G-A c.914G>A p.G305E Missense 7/107 - 3
1-185891526-AG-CC c.916_917delinsCC p.R306P Missense 7/107 - 1
1-185891526-A-T c.916A>T p.R306W Missense 7/107 - 2
1-185891527-G-C c.917G>C p.R306T Missense 7/107 - 1
1-185891526-A-C c.916A>C p.R306= Synonymous 7/107 - 2
1-185891528-G-A c.918G>A p.R306= Synonymous 7/107 - 2
1-185891536-T-A c.926T>A p.V309D Missense 7/107 - 1
1-185891536-T-G c.926T>G p.V309G Missense 7/107 - 4
1-185891538-C-A c.928C>A p.R310S Missense 7/107 - 3
1-185891538-C-T c.928C>T p.R310C Missense 7/107 - 4
1-185891539-G-T c.929G>T p.R310L Missense 7/107 - 4
1-185891545-C-T c.935C>T p.T312I Missense 7/107 - 2
1-185891551-T-C c.941T>C p.L314P Missense 7/107 - 2
1-185891552-C-A c.942C>A p.L314= Synonymous 7/107 - 1
1-185891552-C-G c.942C>G p.L314= Synonymous 7/107 - 1
1-185891552-C-T c.942C>T p.L314= Synonymous 7/107 - 1
1-185891553-A-G c.943A>G p.S315G Missense 7/107 - 2
1-185891554-G-A c.944G>A p.S315N Missense 7/107 - 2
1-185891556-A-G c.946A>G p.T316A Missense 7/107 - 2
1-185891557-C-T c.947C>T p.T316I Missense 7/107 - 1
1-185891558-T-A c.948T>A p.T316= Synonymous 7/107 - 1
1-185891558-T-C c.948T>C p.T316= Synonymous 7/107 - 1
1-185891558-T-G c.948T>G p.T316= Synonymous 7/107 - 1
1-185891561-T-C c.951T>C p.I317= Synonymous 7/107 - 1
1-185891562-G-A c.952G>A p.D318N Missense 7/107 - 1
1-185891564-T-C c.954T>C p.D318= Synonymous 7/107 - 2
1-185891564-T-G c.954T>G p.D318E Missense 7/107 - 1
1-185891565-T-A c.955T>A p.F319I Missense 7/107 - 1
1-185891568-C-T c.958C>T p.R320* Nonsense 7/107 - 6
1-185891569-G-A c.959G>A p.R320Q Missense 7/107 - 4
1-185891569-G-T c.959G>T p.R320L Missense 7/107 - 1
1-185891575-G-A c.965G>A p.G322D Missense 7/107 - 2
1-185891577-T-G c.967T>G p.F323V Missense 7/107 - 3
1-185891580-TC-AT c.970_971delinsAT p.S324I Missense 7/107 - 1
1-185891583-C-G c.973C>G p.R325G Missense 7/107 - 3
1-185891583-C-T c.973C>T p.R325* Nonsense 7/107 - 2
1-185891583-TC-T c.973del p.R325Efs*35 Frameshift 7/107 - 1
1-185891584-G-A c.974G>A p.R325Q Missense 7/107 - 3
1-185891585-A-AT c.975_976insT p.K326* Nonsense 7/107 - 1
1-185891590-CC-AA c.980_981delinsAA p.P327Q Missense 7/107 - 1
1-185891593-C-T c.983C>T p.T328I Missense 7/107 - 5
1-185891595-C-A c.985C>A p.L329M Missense 7/107 - 1
1-185891595-C-T c.985C>T p.L329= Synonymous 7/107 - 1
1-185891596-T-C c.986T>C p.L329P Missense 7/107 - 1
1-185891598-G-C c.988G>C p.D330H Missense 7/107 - 1
1-185891598-G-T c.988G>T p.D330Y Missense 7/107 - 1
1-185891599-A-T c.989A>T p.D330V Missense 7/107 - 1
1-185891601-T-C c.991T>C p.F331L Missense 7/107 - 1
1-185891603-C-G c.993C>G p.F331L Missense 7/107 - 1
1-185891603-C-A c.993C>A p.F331L Missense 7/107 - 2
1-185891605-A-C c.995A>C p.K332T Missense 7/107 - 1
1-185891607-A-C c.997A>C p.K333Q Missense 7/107 - 2
1-185891603-CA-C c.1000del p.T334Qfs*26 Frameshift 7/107 - 2
1-185891603-C-CA c.1000dup p.T334Nfs*25 Frameshift 7/107 - 1
1-185891610-ACA-TGT c.1000_1002inv p.T334C Missense 7/107 - 1
1-185891611-C-A c.1001C>A p.T334K Missense 7/107 - 1
1-185891612-A-C c.1002A>C p.T334= Synonymous 7/107 - 1
1-185891612-A-G c.1002A>G p.T334= Synonymous 7/107 - 1
1-185891612-A-T c.1002A>T p.T334= Synonymous 7/107 - 1
1-185891613-G-A c.1003G>A p.V335I Missense 7/107 - 1
1-185891615-C-A c.1005C>A p.V335= Synonymous 7/107 - 1
1-185891615-C-G c.1005C>G p.V335= Synonymous 7/107 - 1
1-185891615-C-T c.1005C>T p.V335= Synonymous 7/107 - 2
1-185891616-A-C c.1006A>C p.S336R Missense 7/107 - 1
1-185891618-C-A c.1008C>A p.S336R Missense 7/107 - 1
1-185891618-C-G c.1008C>G p.S336R Missense 7/107 - 1
1-185891620-G-A c.1010G>A p.R337K Missense 7/107 - 4
1-185891620-G-C c.1010G>C p.R337T Missense 7/107 - 1
1-185891620-G-T c.1010G>T p.R337I Missense 7/107 - 1
1-185891621-A-G c.1011A>G p.R337= Synonymous 7/107 - 1
1-185891623-C-T c.1013C>T p.P338L Missense 7/107 - 1
1-185891624-A-C c.1014A>C p.P338= Synonymous 7/107 - 1
1-185891624-A-G c.1014A>G p.P338= Synonymous 7/107 - 1
1-185891624-A-T c.1014A>T p.P338= Synonymous 7/107 - 1
1-185891625-G-A c.1015G>A p.V339M Missense 7/107 - 1
1-185891625-G-C c.1015G>C p.V339L Missense 7/107 - 1
1-185891625-G-T c.1015G>T p.V339L Missense 7/107 - 1
1-185891629-A-C c.1019A>C p.Q340P Missense 7/107 - 1
1-185891644-A-G c.1021+13A>G - IntronicSNV - 7/106 1
1-185891734-TGA-T c.1021+106_1021+107del - IntronicDeletion - 7/106 1
1-185892522-G-A c.1022G>A p.G341E Missense 8/107 - 2
1-185892523-A-C c.1023A>C p.G341= Synonymous 8/107 - 1
1-185892523-A-G c.1023A>G p.G341= Synonymous 8/107 - 1
1-185892523-A-T c.1023A>T p.G341= Synonymous 8/107 - 1
1-185892525-T-C c.1025T>C p.I342T Missense 8/107 - 1
1-185892528-C-A c.1028C>A p.P343H Missense 8/107 - 1
1-185892528-C-G c.1028C>G p.P343R Missense 8/107 - 1
1-185892528-C-T c.1028C>T p.P343L Missense 8/107 - 1
1-185892537-T-C c.1037T>C p.V346A Missense 8/107 - 1
1-185892542-C-A c.1042C>A p.L348I Missense 8/107 - 1
1-185892543-T-C c.1043T>C p.L348P Missense 8/107 - 1
1-185892544-C-T c.1044C>T p.L348= Synonymous 8/107 - 1
1-185892545-A-C c.1045A>C p.N349H Missense 8/107 - 3
1-185892549-C-G c.1049C>G p.T350S Missense 8/107 - 1
1-185892549-C-T c.1049C>T p.T350I Missense 8/107 - 2
1-185892551-T-C c.1051T>C p.S351P Missense 8/107 - 1
1-185892554-G-A c.1054G>A p.G352R Missense 8/107 - 1
1-185892557-A-G c.1057A>G p.I353V Missense 8/107 - 1
1-185892559-T-A c.1059T>A p.I353= Synonymous 8/107 - 1
1-185892560-T-C c.1060T>C p.S354P Missense 8/107 - 1
1-185892560-TC-GG c.1060_1061delinsGG p.S354G Missense 8/107 - 1
1-185892561-C-T c.1061C>T p.S354F Missense 8/107 - 3
1-185892563-A-C c.1063A>C p.T355P Missense 8/107 - 1
1-185892564-C-T c.1064C>T p.T355I Missense 8/107 - 1
1-185892564-CT-TG c.1064_1065delinsTG p.T355M Missense 8/107 - 2
1-185892566-C-A c.1066C>A p.P356T Missense 8/107 - 1
1-185892566-C-G c.1066C>G p.P356A Missense 8/107 - 2
1-185892567-CA-AT c.1067_1068delinsAT p.P356H Missense 8/107 - 1
1-185892569-G-A c.1069G>A p.A357T Missense 8/107 - 1
1-185892570-C-T c.1070C>T p.A357V Missense 8/107 - 1
1-185892570-CT-AG c.1070_1071inv p.A357E Missense 8/107 - 1
1-185892572-AGA-TGT c.1072_1074delinsTGT p.R358C Missense 8/107 - 1
1-185892573-G-A c.1073G>A p.R358K Missense 8/107 - 1
1-185892573-G-T c.1073G>T p.R358I Missense 8/107 - 1
1-185892572-A-C c.1072A>C p.R358= Synonymous 8/107 - 1
1-185892574-A-C c.1074A>C p.R358S Missense 8/107 - 1
1-185892574-A-G c.1074A>G p.R358= Synonymous 8/107 - 2
1-185892575-A-G c.1075A>G p.I359V Missense 8/107 - 1
1-185892578-G-A c.1078G>A p.D360N Missense 8/107 - 9
1-185892579-A-G c.1079A>G p.D360G Missense 8/107 - 2
1-185892585-T-C c.1085T>C p.L362P Missense 8/107 - 1
1-185892587-G-A c.1087G>A p.E363K Missense 8/107 - 2
1-185892588-A-G c.1088A>G p.E363G Missense 8/107 - 1
1-185892593-T-C c.1093T>C p.L365= Synonymous 8/107 - 1
1-185892595-G-A c.1095G>A p.L365= Synonymous 8/107 - 1
1-185892599-A-G c.1099A>G p.I367V Missense 8/107 - 2
1-185892603-C-G c.1103C>G p.S368* Nonsense 8/107 - 1
1-185892603-C-T c.1103C>T p.S368L Missense 8/107 - 4
1-185892604-A-C c.1104A>C p.S368= Synonymous 8/107 - 1
1-185892604-A-G c.1104A>G p.S368= Synonymous 8/107 - 1
1-185892604-A-T c.1104A>T p.S368= Synonymous 8/107 - 1
1-185892605-G-A c.1105G>A p.G369R Missense 8/107 - 1
1-185892605-G-T c.1105G>T p.G369* Nonsense 8/107 - 1
1-185892606-G-A c.1106G>A p.G369E Missense 8/107 - 1
1-185892608-A-T c.1108A>T p.S370C Missense 8/107 - 1
1-185892610-T-C c.1110T>C p.S370= Synonymous 8/107 - 2
1-185892611-TC-CT c.1111_1112delinsCT p.S371L Missense 8/107 - 1
1-185892612-C-A c.1112C>A p.S371Y Missense 8/107 - 4
1-185892612-C-T c.1112C>T p.S371F Missense 8/107 - 1
1-185892614-C-A c.1114C>A p.L372I Missense 8/107 - 1
1-185892614-CTT-ATG c.1114_1116delinsATG p.L372M Missense 8/107 - 1
1-185892615-T-C c.1115T>C p.L372P Missense 8/107 - 1
1-185892615-T-G c.1115T>G p.L372R Missense 8/107 - 1
1-185892620-A-T c.1120A>T p.T374S Missense 8/107 - 1
1-185892621-C-G c.1121C>G p.T374S Missense 8/107 - 2
1-185892621-C-T c.1121C>T p.T374I Missense 8/107 - 1
1-185892625-T-A c.1125T>A p.I375= Synonymous 8/107 - 1
1-185892625-T-C c.1125T>C p.I375= Synonymous 8/107 - 1
1-185892625-TTC-T c.1125_1126del p.P376Cfs*2 Frameshift 8/107 - 1
1-185892626-C-G c.1126C>G p.P376A Missense 8/107 - 1
1-185892630-T-C c.1130T>C p.V377A Missense 8/107 - 1
1-185892634-A-C c.1134A>C p.K378N Missense 8/107 - 1
1-185892634-A-T c.1134A>T p.K378N Missense 8/107 - 1
1-185892635-T-C c.1135T>C p.Y379H Missense 8/107 - 1
1-185892635-T-G c.1135T>G p.Y379D Missense 8/107 - 1
1-185892637-T-A c.1137T>A p.Y379* Nonsense 8/107 - 1
1-185892642-C-T c.1142C>T p.P381L Missense 8/107 - 1
1-185892644-C-T c.1144C>T p.H382Y Missense 8/107 - 1
1-185892647-CG-AT c.1147_1148delinsAT p.R383I Missense 8/107 - 1
1-185892647-CGA-TGG c.1147_1149delinsTGG p.R383W Missense 8/107 - 1
1-185892647-C-T c.1147C>T p.R383* Nonsense 8/107 - 2
1-185892648-G-A c.1148G>A p.R383Q Missense 8/107 - 12
1-185892650-A-G c.1150A>G p.K384E Missense 8/107 - 1
1-185892652-A-G c.1152A>G p.K384= Synonymous 8/107 - 1
1-185892653-C-T c.1153C>T p.P385S Missense 8/107 - 1
1-185892656-T-A c.1156T>A p.Y386N Missense 8/107 - 2
1-185892656-T-C c.1156T>C p.Y386H Missense 8/107 - 1
1-185892657-A-G c.1157A>G p.Y386C Missense 8/107 - 1
1-185892660-G-A c.1160G>A p.G387D Missense 8/107 - 2
1-185892661-C-A c.1161C>A p.G387= Synonymous 8/107 - 1
1-185892661-C-G c.1161C>G p.G387= Synonymous 8/107 - 1
1-185892661-C-T c.1161C>T p.G387= Synonymous 8/107 - 1
1-185892669-A-G c.1169A>G p.N390S Missense 8/107 - 3
1-185892673-T-A c.1173T>A p.I391= Synonymous 8/107 - 3
1-185892673-T-C c.1173T>C p.I391= Synonymous 8/107 - 2
1-185892681-TTG-T c.1183_1184del p.V395Tfs*4 Frameshift 8/107 - 1
1-185892687-C-A c.1187C>A p.P396Q Missense 8/107 - 1
1-185892689-C-T c.1189C>T p.P397S Missense 8/107 - 1
1-185892691-A-C c.1191A>C p.P397= Synonymous 8/107 - 1
1-185892691-A-G c.1191A>G p.P397= Synonymous 8/107 - 1
1-185892691-A-T c.1191A>T p.P397= Synonymous 8/107 - 1
1-185892694-T-C c.1194T>C p.N398= Synonymous 8/107 - 1
1-185892699-C-A c.1199C>A p.A400D Missense 8/107 - 1
1-185892703-C-G c.1203C>G p.F401L Missense 8/107 - 1
1-185892705-T-A c.1205T>A p.F402Y Missense 8/107 - 2
1-185892705-T-G c.1205T>G p.F402C Missense 8/107 - 1
1-185892707-C-A c.1207C>A p.L403I Missense 8/107 - 1
1-185892707-C-T c.1207C>T p.L403F Missense 8/107 - 3
1-185892708-T-A c.1208T>A p.L403H Missense 8/107 - 2
1-185892709-C-A c.1209C>A p.L403= Synonymous 8/107 - 4
1-185892709-C-G c.1209C>G p.L403= Synonymous 8/107 - 2
1-185892709-C-T c.1209C>T p.L403= Synonymous 8/107 - 2
1-185892717-C-A c.1217C>A p.T406K Missense 8/107 - 1
1-185892719-G-A c.1219G>A p.G407S Missense 8/107 - 2
1-185892720-G-A c.1220G>A p.G407D Missense 8/107 - 1
1-185892720-G-T c.1220G>T p.G407V Missense 8/107 - 1
1-185892721-C-A c.1221C>A p.G407= Synonymous 8/107 - 4
1-185892721-C-G c.1221C>G p.G407= Synonymous 8/107 - 3
1-185892721-C-T c.1221C>T p.G407= Synonymous 8/107 - 3
1-185892723-A-G c.1223A>G p.Y408C Missense 8/107 - 1
1-185892725-G-A c.1225G>A p.D409N Missense 8/107 - 1
1-185892725-G-C c.1225G>C p.D409H Missense 8/107 - 1
1-185892725-G-T c.1225G>T p.D409Y Missense 8/107 - 1
1-185892727-T-A c.1227T>A p.D409E Missense 8/107 - 1
1-185892727-T-C c.1227T>C p.D409= Synonymous 8/107 - 1
1-185892727-T-G c.1227T>G p.D409E Missense 8/107 - 2
1-185892731-G-A c.1231G>A p.D411N Missense 8/107 - 1
1-185892731-G-C c.1231G>C p.D411H Missense 8/107 - 1
1-185892734-G-A c.1234G>A p.D412N Missense 8/107 - 1
1-185892734-G-T c.1234G>T p.D412Y Missense 8/107 - 1
1-185892738-A-G c.1238A>G p.Y413C Missense 8/107 - 1
1-185892740-C-A c.1240C>A p.L414I Missense 8/107 - 3
1-185892740-C-G c.1240C>G p.L414V Missense 8/107 - 1
1-185892747-A-G c.1247A>G p.Q416R Missense 8/107 - 6
1-185892747-A-T c.1247A>T p.Q416L Missense 8/107 - 1
1-185892748-G-A c.1248G>A p.Q416= Synonymous 8/107 - 1
1-185892749-AGA-TGT c.1249_1251delinsTGT p.R417C Missense 8/107 - 1
1-185892750-G-A c.1250G>A p.R417K Missense 8/107 - 4
1-185892752-G-A c.1252G>A p.V418I Missense 8/107 - 2
1-185892752-G-C c.1252G>C p.V418L Missense 8/107 - 1
1-185892752-G-T c.1252G>T p.V418L Missense 8/107 - 1
1-185892754-A-C c.1254A>C p.V418= Synonymous 8/107 - 1
1-185892756-C-T c.1256C>T p.S419L Missense 8/107 - 5
1-185892758-A-G c.1258A>G p.S420G Missense 8/107 - 1
1-185892759-G-A c.1259G>A p.S420N Missense 8/107 - 1
1-185892760-T-C c.1260T>C p.S420= Synonymous 8/107 - 1
1-185892761-G-A c.1261G>A p.V421I Missense 8/107 - 1
1-185892762-T-C c.1262T>C p.V421A Missense 8/107 - 2
1-185892764-T-G c.1264T>G p.S422A Missense 8/107 - 1
1-185892765-C-T c.1265C>T p.S422F Missense 8/107 - 3
1-185892771-C-A c.1271C>A p.S424Y Missense 8/107 - 1
1-185892773-A-T c.1273A>T p.S425C Missense 8/107 - 1
1-185892774-G-T c.1274G>T p.S425I Missense 8/107 - 2
1-185892776-A-G c.1276A>G p.I426V Missense 8/107 - 1
1-185892779-G-A c.1279G>A p.V427I Missense 8/107 - 1
1-185892779-TG-T c.1279del p.V427Sfs*35 Frameshift 8/107 - 1
1-185892782-C-G c.1282C>G p.P428A Missense 8/107 - 1
1-185892783-CCAG-C c.1283_1285del p.P428_D429delinsH SpliceDonorDeletion 8/107 - 1
1-185892784-A-C c.1284A>C p.P428= Synonymous 8/107 - 1
1-185892784-A-G c.1284A>G p.P428= Synonymous 8/107 - 1
1-185892784-A-T c.1284A>T p.P428= Synonymous 8/107 - 1
1-185892859-G-A c.1285+74G>A - IntronicSNV - 8/106 1
1-185894179-A-G c.1286A>G p.D429G Missense 9/107 - 1
1-185894179-A-T c.1286A>T p.D429V Missense 9/107 - 1
1-185894181-G-A c.1288G>A p.A430T Missense 9/107 - 1
1-185894182-C-A c.1289C>A p.A430D Missense 9/107 - 2
1-185894182-C-T c.1289C>T p.A430V Missense 9/107 - 1
1-185894184-C-T c.1291C>T p.P431S Missense 9/107 - 1
1-185894186-C-T c.1293C>T p.P431= Synonymous 9/107 - 1
1-185894187-A-G c.1294A>G p.K432E Missense 9/107 - 1
1-185894190-G-A c.1297G>A p.V433I Missense 9/107 - 2
1-185894194-C-T c.1301C>T p.T434M Missense 9/107 - 2
1-185894195-G-A c.1302G>A p.T434= Synonymous 9/107 - 2
1-185894195-G-C c.1302G>C p.T434= Synonymous 9/107 - 1
1-185894195-G-T c.1302G>T p.T434= Synonymous 9/107 - 1
1-185894202-G-A c.1309G>A p.E437K Missense 9/107 - 1
1-185894202-G-T c.1309G>T p.E437* Nonsense 9/107 - 1
1-185894204-G-T c.1311G>T p.E437D Missense 9/107 - 1
1-185894207-A-C c.1314A>C p.K438N Missense 9/107 - 1
1-185894207-A-T c.1314A>T p.K438N Missense 9/107 - 1
1-185894211-C-G c.1318C>G p.P440A Missense 9/107 - 2
1-185894212-C-G c.1319C>G p.P440R Missense 9/107 - 1
1-185894214-G-A c.1321G>A p.G441R Missense 9/107 - 1
1-185894214-G-C c.1321G>C p.G441R Missense 9/107 - 1
1-185894215-G-A c.1322G>A p.G441E Missense 9/107 - 2
1-185894215-G-T c.1322G>T p.G441V Missense 9/107 - 2
1-185894215-G-GA c.1323dup p.Y442Ifs*13 Frameshift 9/107 - 1
1-185894216-A-C c.1323A>C p.G441= Synonymous 9/107 - 1
1-185894216-A-G c.1323A>G p.G441= Synonymous 9/107 - 2
1-185894216-A-T c.1323A>T p.G441= Synonymous 9/107 - 1
1-185894221-A-G c.1328A>G p.Y443C Missense 9/107 - 2
1-185894223-C-A c.1330C>A p.L444M Missense 9/107 - 1
1-185894223-C-G c.1330C>G p.L444V Missense 9/107 - 2
1-185894224-T-G c.1331T>G p.L444R Missense 9/107 - 1
1-185894228-G-A c.1335G>A p.Q445= Synonymous 9/107 - 1
1-185894229-C-T c.1336C>T p.P446S Missense 9/107 - 2
1-185894230-C-T c.1337C>T p.P446L Missense 9/107 - 2
1-185894231-G-A c.1338G>A p.P446= Synonymous 9/107 - 1
1-185894231-G-C c.1338G>C p.P446= Synonymous 9/107 - 1
1-185894231-G-T c.1338G>T p.P446= Synonymous 9/107 - 1
1-185894233-GC-AG c.1340_1341delinsAG p.G447E Missense 9/107 - 1
1-185894238-A-C c.1345A>C p.I449L Missense 9/107 - 1
1-185894241-C-T c.1348C>T p.P450S Missense 9/107 - 2
1-185894242-C-T c.1349C>T p.P450L Missense 9/107 - 1
1-185894244-T-G c.1351T>G p.C451G Missense 9/107 - 1
1-185894246-C-T c.1353C>T p.C451= Synonymous 9/107 - 1
1-185894250-G-A c.1357G>A p.V453I Missense 9/107 - 1
1-185894251-T-A c.1358T>A p.V453D Missense 9/107 - 1
1-185894251-T-C c.1358T>C p.V453A Missense 9/107 - 1
1-185894253-G-T c.1360G>T p.D454Y Missense 9/107 - 1
1-185894254-A-G c.1361A>G p.D454G Missense 9/107 - 1
1-185894255-C-A c.1362C>A p.D454E Missense 9/107 - 1
1-185894257-G-A c.1364G>A p.S455N Missense 9/107 - 1
1-185894259-C-G c.1366C>G p.L456V Missense 9/107 - 1
1-185894260-T-C c.1367T>C p.L456P Missense 9/107 - 1
1-185894264-G-T c.1371G>T p.L457F Missense 9/107 - 1
1-185894266-C-T c.1373C>T p.P458L Missense 9/107 - 1
1-185894267-C-T c.1374C>T p.P458= Synonymous 9/107 - 1
1-185894269-T-A c.1376T>A p.F459Y Missense 9/107 - 1
1-185894270-T-C c.1377T>C p.F459= Synonymous 9/107 - 1
1-185894271-A-G c.1378A>G p.T460A Missense 9/107 - 2
1-185894272-C-T c.1379C>T p.T460I Missense 9/107 - 4
1-185894273-C-A c.1380C>A p.T460= Synonymous 9/107 - 1
1-185894275-T-G c.1382T>G p.L461W Missense 9/107 - 1
1-185894276-G-C c.1383G>C p.L461F Missense 9/107 - 2
1-185894276-G-T c.1383G>T p.L461F Missense 9/107 - 1
1-185894278-G-A c.1385G>A p.S462N Missense 9/107 - 2
1-185894279-C-T c.1386C>T p.S462= Synonymous 9/107 - 1
1-185894283-G-C c.1390G>C p.V464L Missense 9/107 - 1
1-185894284-T-G c.1391T>G p.V464G Missense 9/107 - 1
1-185894286-AGA-TGG c.1393_1395delinsTGG p.R465W Missense 9/107 - 1
1-185894287-G-A c.1394G>A p.R465K Missense 9/107 - 1
1-185894287-G-T c.1394G>T p.R465I Missense 9/107 - 2
1-185894286-A-C c.1393A>C p.R465= Synonymous 9/107 - 1
1-185894288-A-G c.1395A>G p.R465= Synonymous 9/107 - 1
1-185894289-A-T c.1396A>T p.N466Y Missense 9/107 - 1
1-185894290-A-G c.1397A>G p.N466S Missense 9/107 - 1
1-185894293-G-A c.1400G>A p.G467E Missense 9/107 - 1
1-185894293-GA-AC c.1400_1401delinsAC p.G467D Missense 9/107 - 1
1-185894293-G-C c.1400G>C p.G467A Missense 9/107 - 1
1-185894295-G-A c.1402G>A p.V468I Missense 9/107 - 3
1-185894295-G-T c.1402G>T p.V468F Missense 9/107 - 1
1-185894298-A-G c.1405A>G p.T469A Missense 9/107 - 2
1-185894301-C-T c.1408C>T p.L470F Missense 9/107 - 2
1-185894304-G-T c.1411G>T p.G471* Nonsense 9/107 - 1
1-185894305-G-T c.1412G>T p.G471V Missense 9/107 - 1
1-185894306-A-C c.1413A>C p.G471= Synonymous 9/107 - 1
1-185894306-A-G c.1413A>G p.G471= Synonymous 9/107 - 1
1-185894306-A-T c.1413A>T p.G471= Synonymous 9/107 - 1
1-185894310-G-A c.1417G>A p.D473N Missense 9/107 - 1
1-185894310-G-T c.1417G>T p.D473Y Missense 9/107 - 2
1-185894311-A-G c.1418A>G p.D473G Missense 9/107 - 1
1-185894312-C-T c.1419C>T p.D473= Synonymous 9/107 - 1
1-185894313-C-T c.1420C>T p.Q474* Nonsense 9/107 - 1
1-185894314-A-T c.1421A>T p.Q474L Missense 9/107 - 1
1-185894315-G-T c.1422G>T p.Q474H Missense 9/107 - 2
1-185894320-T-A c.1427T>A p.L476* Nonsense 9/107 - 1
1-185894328-G-T c.1430+5G>T - IntronicSNV - 9/106 1
1-185895926-C-A c.1430+1603C>A - IntronicSNV - 9/106 1
1-185897678-A-T c.1431A>T p.K477N Missense 10/107 - 1
1-185897679-G-A c.1432G>A p.E478K Missense 10/107 - 2
1-185897679-G-T c.1432G>T p.E478* Nonsense 10/107 - 1
1-185897682-T-A c.1435T>A p.S479T Missense 10/107 - 1
1-185897683-C-A c.1436C>A p.S479Y Missense 10/107 - 1
1-185897689-G-A c.1442G>A p.S481N Missense 10/107 - 1
1-185897692-T-C c.1445T>C p.V482A Missense 10/107 - 1
1-185897698-T-A c.1451T>A p.L484* Nonsense 10/107 - 1
1-185897698-T-G c.1451T>G p.L484* Nonsense 10/107 - 1
1-185897700-G-C c.1453G>C p.D485H Missense 10/107 - 2
1-185897702-T-C c.1455T>C p.D485= Synonymous 10/107 - 1
1-185897707-C-T c.1460C>T p.A487V Missense 10/107 - 1
1-185897711-G-T c.1464G>T p.K488N Missense 10/107 - 1
1-185897712-G-T c.1465G>T p.V489F Missense 10/107 - 1
1-185897712-GTC-ATG c.1465_1467delinsATG p.V489M Missense 10/107 - 1
1-185897713-T-C c.1466T>C p.V489A Missense 10/107 - 1
1-185897719-T-C c.1472T>C p.L491S Missense 10/107 - 1
1-185897720-G-A c.1473G>A p.L491= Synonymous 10/107 - 1
1-185897720-G-C c.1473G>C p.L491F Missense 10/107 - 2
1-185897720-G-T c.1473G>T p.L491F Missense 10/107 - 3
1-185897721-TC-CT c.1474_1475delinsCT p.S492L Missense 10/107 - 1
1-185897722-C-G c.1475C>G p.S492C Missense 10/107 - 1
1-185897722-C-T c.1475C>T p.S492F Missense 10/107 - 1
1-185897724-G-A c.1477G>A p.D493N Missense 10/107 - 1
1-185897725-A-G c.1478A>G p.D493G Missense 10/107 - 1
1-185897726-C-CT c.1479_1480insT p.E494* Nonsense 10/107 - 1
1-185897727-CG-C c.1480del p.E494Kfs*46 Frameshift 10/107 - 1
1-185897727-G-A c.1480G>A p.E494K Missense 10/107 - 3
1-185897727-G-C c.1480G>C p.E494Q Missense 10/107 - 1
1-185897729-A-G c.1482A>G p.E494= Synonymous 10/107 - 1
1-185897735-C-T c.1488C>T p.F496= Synonymous 10/107 - 1
1-185897739-G-A c.1492G>A p.E498K Missense 10/107 - 2
1-185897741-A-C c.1494A>C p.E498D Missense 10/107 - 1
1-185897741-A-T c.1494A>T p.E498D Missense 10/107 - 1
1-185897746-T-C c.1499T>C p.I500T Missense 10/107 - 1
1-185897748-G-A c.1501G>A p.A501T Missense 10/107 - 1
1-185897748-G-T c.1501G>T p.A501S Missense 10/107 - 1
1-185897751-G-A c.1504G>A p.V502I Missense 10/107 - 1
1-185897751-GTC-ATG c.1504_1506delinsATG p.V502M Missense 10/107 - 1
1-185897753-C-A c.1506C>A p.V502= Synonymous 10/107 - 1
1-185897753-C-G c.1506C>G p.V502= Synonymous 10/107 - 1
1-185897753-C-T c.1506C>T p.V502= Synonymous 10/107 - 1
1-185897755-G-A c.1508G>A p.S503N Missense 10/107 - 1
1-185897756-C-T c.1509C>T p.S503= Synonymous 10/107 - 1
1-185897757-A-G c.1510A>G p.S504G Missense 10/107 - 1
1-185897757-AG-TT c.1510_1511delinsTT p.S504F Missense 10/107 - 1
1-185897758-G-A c.1511G>A p.S504N Missense 10/107 - 1
1-185897758-G-T c.1511G>T p.S504I Missense 10/107 - 1
1-185897760-G-A c.1513G>A p.A505T Missense 10/107 - 1
1-185897761-C-T c.1514C>T p.A505V Missense 10/107 - 1
1-185897763-G-T c.1516G>T p.G506C Missense 10/107 - 4
1-185897765-T-A c.1518T>A p.G506= Synonymous 10/107 - 1
1-185897765-T-C c.1518T>C p.G506= Synonymous 10/107 - 2
1-185897765-T-G c.1518T>G p.G506= Synonymous 10/107 - 1
1-185897772-CGG-TGT c.1525_1527delinsTGT p.R509C Missense 10/107 - 1
1-185897772-CG-TA c.1525_1526delinsTA p.R509* Nonsense 10/107 - 1
1-185897772-C-T c.1525C>T p.R509W Missense 10/107 - 3
1-185897773-G-A c.1526G>A p.R509Q Missense 10/107 - 1
1-185897773-G-T c.1526G>T p.R509L Missense 10/107 - 2
1-185897775-G-A c.1528G>A p.A510T Missense 10/107 - 7
1-185897776-C-A c.1529C>A p.A510E Missense 10/107 - 1
1-185897778-C-G c.1531C>G p.Q511E Missense 10/107 - 1
1-185897778-C-T c.1531C>T p.Q511* Nonsense 10/107 - 1
1-185897780-G-A c.1533G>A p.Q511= Synonymous 10/107 - 1
1-185897781-A-G c.1534A>G p.T512A Missense 10/107 - 1
1-185897782-C-T c.1535C>T p.T512I Missense 10/107 - 2
1-185897783-A-AT c.1542dup p.D515* Nonsense 10/107 - 1
1-185897791-A-T c.1544A>T p.D515V Missense 10/107 - 2
1-185897792-C-T c.1545C>T p.D515= Synonymous 10/107 - 5
1-185897793-G-A c.1546G>A p.V516I Missense 10/107 - 4
1-185897794-T-C c.1547T>C p.V516A Missense 10/107 - 1
1-185897795-A-G c.1548A>G p.V516= Synonymous 10/107 - 1
1-185897796-T-C c.1549T>C p.S517P Missense 10/107 - 1
1-185897797-CA-AT c.1550_1551delinsAT p.S517Y Missense 10/107 - 1
1-185897799-G-C c.1552G>C p.E518Q Missense 10/107 - 1
1-185897851-A-G c.1552+52A>G - IntronicSNV - 10/106 1
1-185900387-A-G c.1553-2294A>G - IntronicSNV - 10/106 1
1-185901723-C-G c.1553-958C>G - IntronicSNV - 10/106 1
1-185901723-C-T c.1553-958C>T - IntronicSNV - 10/106 1
1-185901995-C-T c.1553-686C>T - IntronicSNV - 10/106 2
1-185902681-A-G c.1553A>G p.E518G Missense 11/107 - 1
1-185902681-A-T c.1553A>T p.E518V Missense 11/107 - 4
1-185902684-C-T c.1556C>T p.P519L Missense 11/107 - 1
1-185902685-C-A c.1557C>A p.P519= Synonymous 11/107 - 1
1-185902685-C-G c.1557C>G p.P519= Synonymous 11/107 - 1
1-185902685-C-T c.1557C>T p.P519= Synonymous 11/107 - 1
1-185902689-C-G c.1561C>G p.P521A Missense 11/107 - 1
1-185902690-C-T c.1562C>T p.P521L Missense 11/107 - 4
1-185902692-G-A c.1564G>A p.V522I Missense 11/107 - 1
1-185902704-C-A c.1576C>A p.P526T Missense 11/107 - 1
1-185902704-C-G c.1576C>G p.P526A Missense 11/107 - 1
1-185902710-A-G c.1582A>G p.N528D Missense 11/107 - 1
1-185902716-A-G c.1588A>G p.T530A Missense 11/107 - 1
1-185902717-C-T c.1589C>T p.T530I Missense 11/107 - 1
1-185902719-G-A c.1591G>A p.V531I Missense 11/107 - 1
1-185902723-C-T c.1595C>T p.T532I Missense 11/107 - 3
1-185902723-CT-TG c.1595_1596delinsTG p.T532M Missense 11/107 - 1
1-185902725-C-T c.1597C>T p.P533S Missense 11/107 - 3
1-185902726-C-A c.1598C>A p.P533H Missense 11/107 - 1
1-185902728-G-C c.1600G>C p.G534R Missense 11/107 - 1
1-185902731-G-A c.1603G>A p.E535K Missense 11/107 - 1
1-185902733-G-A c.1605G>A p.E535= Synonymous 11/107 - 1
1-185902734-AGA-CAT c.1606_1608delinsCAT p.R536H Missense 11/107 - 1
1-185902734-AG-CA c.1606_1607delinsCA p.R536Q Missense 11/107 - 1
1-185902735-G-C c.1607G>C p.R536T Missense 11/107 - 2
1-185902735-G-T c.1607G>T p.R536I Missense 11/107 - 1
1-185902737-G-A c.1609G>A p.A537T Missense 11/107 - 1
1-185902737-G-T c.1609G>T p.A537S Missense 11/107 - 1
1-185902738-C-G c.1610C>G p.A537G Missense 11/107 - 1
1-185902739-A-C c.1611A>C p.A537= Synonymous 11/107 - 1
1-185902740-G-A c.1612G>A p.V538I Missense 11/107 - 1
1-185902742-T-A c.1614T>A p.V538= Synonymous 11/107 - 1
1-185902742-T-C c.1614T>C p.V538= Synonymous 11/107 - 1
1-185902742-T-G c.1614T>G p.V538= Synonymous 11/107 - 1
1-185902749-T-C c.1621T>C p.C541R Missense 11/107 - 1
1-185902756-T-C c.1628T>C p.I543T Missense 11/107 - 1
1-185902757-C-A c.1629C>A p.I543= Synonymous 11/107 - 1
1-185902757-C-G c.1629C>G p.I543M Missense 11/107 - 2
1-185902757-C-T c.1629C>T p.I543= Synonymous 11/107 - 1
1-185902758-A-G c.1630A>G p.I544V Missense 11/107 - 1
1-185902760-C-A c.1632C>A p.I544= Synonymous 11/107 - 3
1-185902760-C-T c.1632C>T p.I544= Synonymous 11/107 - 3
1-185902761-A-G c.1633A>G p.S545G Missense 11/107 - 1
1-185902761-AG-TT c.1633_1634delinsTT p.S545F Missense 11/107 - 1
1-185902762-G-T c.1634G>T p.S545I Missense 11/107 - 1
1-185902765-C-T c.1637C>T p.A546V Missense 11/107 - 2
1-185902766-G-A c.1638G>A p.A546= Synonymous 11/107 - 2
1-185902766-G-C c.1638G>C p.A546= Synonymous 11/107 - 2
1-185902766-G-T c.1638G>T p.A546= Synonymous 11/107 - 2
1-185902767-G-A c.1639G>A p.V547M Missense 11/107 - 6
1-185902768-T-C c.1640T>C p.V547A Missense 11/107 - 2
1-185902768-TG-T c.1642del p.D548Ifs*4 Frameshift 11/107 - 1
1-185902772-T-A c.1644T>A p.D548E Missense 11/107 - 1
1-185902772-T-G c.1644T>G p.D548E Missense 11/107 - 1
1-185902776-A-G c.1648A>G p.N550D Missense 11/107 - 1
1-185902776-A-T c.1648A>T p.N550Y Missense 11/107 - 1
1-185902777-A-G c.1649A>G p.N550S Missense 11/107 - 1
1-185902783-C-A c.1655C>A p.T552N Missense 11/107 - 1
1-185902788-C-T c.1660C>T p.Q554* Nonsense 11/107 - 1
1-185902791-AG-CA c.1663_1664delinsCA p.R555Q Missense 11/107 - 1
1-185902791-AGG-CAT c.1663_1665delinsCAT p.R555H Missense 11/107 - 1
1-185902791-A-T c.1663A>T p.R555W Missense 11/107 - 3
1-185902792-G-C c.1664G>C p.R555T Missense 11/107 - 1
1-185902792-G-T c.1664G>T p.R555M Missense 11/107 - 2
1-185902793-G-T c.1665G>T p.R555S Missense 11/107 - 1
1-185902797-G-A c.1669G>A p.D557N Missense 11/107 - 1
1-185902800-AGA-TGG c.1672_1674delinsTGG p.R558W Missense 11/107 - 1
1-185902800-A-C c.1672A>C p.R558= Synonymous 11/107 - 1
1-185902802-A-G c.1674A>G p.R558= Synonymous 11/107 - 1
1-185902803-G-A c.1675G>A p.D559N Missense 11/107 - 1
1-185902803-G-C c.1675G>C p.D559H Missense 11/107 - 7
1-185902807-T-C c.1679T>C p.V560A Missense 11/107 - 1
1-185902808-C-A c.1680C>A p.V560= Synonymous 11/107 - 1
1-185902809-A-G c.1681A>G p.R561G Missense 11/107 - 1
1-185902810-G-A c.1682G>A p.R561K Missense 11/107 - 2
1-185902810-G-C c.1682G>C p.R561T Missense 11/107 - 1
1-185902810-G-T c.1682G>T p.R561I Missense 11/107 - 1
1-185902809-A-C c.1681A>C p.R561= Synonymous 11/107 - 1
1-185902811-A-C c.1683A>C p.R561S Missense 11/107 - 1
1-185902811-A-G c.1683A>G p.R561= Synonymous 11/107 - 1
1-185902811-A-T c.1683A>T p.R561S Missense 11/107 - 1
1-185902812-C-G c.1684C>G p.L562V Missense 11/107 - 1
1-185902813-T-A c.1685T>A p.L562Q Missense 11/107 - 1
1-185902813-T-C c.1685T>C p.L562P Missense 11/107 - 1
1-185902814-G-C c.1686G>C p.L562= Synonymous 11/107 - 1
1-185902815-G-A c.1687G>A p.A563T Missense 11/107 - 1
1-185902816-C-G c.1688C>G p.A563G Missense 11/107 - 1
1-185902818-G-C c.1690G>C p.E564Q Missense 11/107 - 1
1-185902821-C-T c.1693C>T p.P565S Missense 11/107 - 1
1-185902823-A-G c.1695A>G p.P565= Synonymous 11/107 - 1
1-185902824-G-A c.1696G>A p.A566T Missense 11/107 - 4
1-185902825-C-G c.1697C>G p.A566G Missense 11/107 - 1
1-185902825-C-T c.1697C>T p.A566V Missense 11/107 - 3
1-185902829-A-C c.1701A>C p.R567S Missense 11/107 - 1
1-185902829-A-T c.1701A>T p.R567S Missense 11/107 - 1
1-185902833-AG-CA c.1705_1706delinsCA p.R569Q Missense 11/107 - 2
1-185902836-A-G c.1708A>G p.T570A Missense 11/107 - 1
1-185902836-A-T c.1708A>T p.T570S Missense 11/107 - 1
1-185902837-C-G c.1709C>G p.T570S Missense 11/107 - 1
1-185902843-C-G c.1715C>G p.A572G Missense 11/107 - 1
1-185902846-A-T c.1718A>T p.N573I Missense 11/107 - 1
1-185902852-C-A c.1724C>A p.S575* Nonsense 11/107 - 1
1-185902852-CA-AT c.1724_1725delinsAT p.S575Y Missense 11/107 - 1
1-185902854-T-C c.1726T>C p.L576= Synonymous 11/107 - 1
1-185902855-T-C c.1727T>C p.L576S Missense 11/107 - 1
1-185902856-G-T c.1728G>T p.L576F Missense 11/107 - 1
1-185902864-A-G c.1736A>G p.K579R Missense 11/107 - 1
1-185902866-A-G c.1738A>G p.S580G Missense 11/107 - 1
1-185902866-A-T c.1738A>T p.S580C Missense 11/107 - 1
1-185902868-T-A c.1740T>A p.S580R Missense 11/107 - 1
1-185902870-T-C c.1742T>C p.V581A Missense 11/107 - 1
1-185902871-G-A c.1743G>A p.V581= Synonymous 11/107 - 1
1-185902871-G-T c.1743G>T p.V581= Synonymous 11/107 - 1
1-185902872-A-G c.1744A>G p.K582E Missense 11/107 - 1
1-185902873-A-C c.1745A>C p.K582T Missense 11/107 - 1
1-185902876-T-C c.1748T>C p.F583S Missense 11/107 - 1
1-185902877-C-G c.1749C>G p.F583L Missense 11/107 - 1
1-185902879-A-G c.1751A>G p.N584S Missense 11/107 - 2
1-185902880-C-T c.1752C>T p.N584= Synonymous 11/107 - 1
1-185902881-G-A c.1753G>A p.D585N Missense 11/107 - 3
1-185902883-T-A c.1755T>A p.D585E Missense 11/107 - 1
1-185902884-G-A c.1756G>A p.A586T Missense 11/107 - 1
1-185902884-G-T c.1756G>T p.A586S Missense 11/107 - 8
1-185902888-G-A c.1760G>A p.G587E Missense 11/107 - 1
1-185902889-A-C c.1761A>C p.G587= Synonymous 11/107 - 2
1-185902889-A-G c.1761A>G p.G587= Synonymous 11/107 - 2
1-185902889-A-T c.1761A>T p.G587= Synonymous 11/107 - 4
1-185902893-T-A c.1765T>A p.Y589N Missense 11/107 - 6
1-185902896-C-T c.1768C>T p.H590Y Missense 11/107 - 4
1-185902900-G-A c.1772G>A p.C591Y Missense 11/107 - 1
1-185902902-A-G c.1774A>G p.M592V Missense 11/107 - 1
1-185902903-T-C c.1775T>C p.M592T Missense 11/107 - 1
1-185902904-G-A c.1776G>A p.M592I Missense 11/107 - 1
1-185902904-G-T c.1776G>T p.M592I Missense 11/107 - 1
1-185902905-G-A c.1777G>A p.V593I Missense 11/107 - 1
1-185902905-G-C c.1777G>C p.V593L Missense 11/107 - 1
1-185902905-GTT-ATG c.1777_1779delinsATG p.V593M Missense 11/107 - 1
1-185902906-T-C c.1778T>C p.V593A Missense 11/107 - 2
1-185902907-T-A c.1779T>A p.V593= Synonymous 11/107 - 4
1-185902907-T-C c.1779T>C p.V593= Synonymous 11/107 - 2
1-185902907-T-G c.1779T>G p.V593= Synonymous 11/107 - 1
1-185902908-TC-CT c.1780_1781delinsCT p.S594L Missense 11/107 - 1
1-185902910-T-A c.1782T>A p.S594= Synonymous 11/107 - 1
1-185902910-T-C c.1782T>C p.S594= Synonymous 11/107 - 1
1-185902910-T-G c.1782T>G p.S594= Synonymous 11/107 - 1
1-185902914-G-A c.1786G>A p.E596K Missense 11/107 - 2
1-185902918-G-A c.1790G>A p.G597D Missense 11/107 - 2
1-185902923-TCA-AAC c.1795_1797delinsAAC p.S599N Missense 11/107 - 1
1-185902924-C-G c.1796C>G p.S599* Nonsense 11/107 - 1
1-185902927-C-T c.1799C>T p.S600L Missense 11/107 - 1
1-185902929-G-A c.1801G>A p.A601T Missense 11/107 - 4
1-185902930-C-T c.1802C>T p.A601V Missense 11/107 - 2
1-185902931-C-A c.1803C>A p.A601= Synonymous 11/107 - 1
1-185902931-C-G c.1803C>G p.A601= Synonymous 11/107 - 1
1-185902931-C-T c.1803C>T p.A601= Synonymous 11/107 - 1
1-185902932-G-A c.1804G>A p.A602T Missense 11/107 - 2
1-185902932-G-T c.1804G>T p.A602S Missense 11/107 - 1
1-185902933-C-A c.1805C>A p.A602D Missense 11/107 - 1
1-185902934-T-A c.1806T>A p.A602= Synonymous 11/107 - 1
1-185902934-T-C c.1806T>C p.A602= Synonymous 11/107 - 1
1-185902934-T-G c.1806T>G p.A602= Synonymous 11/107 - 1
1-185902937-A-C c.1809A>C p.S603= Synonymous 11/107 - 2
1-185902937-A-G c.1809A>G p.S603= Synonymous 11/107 - 1
1-185902937-A-T c.1809A>T p.S603= Synonymous 11/107 - 1
1-185902938-G-A c.1810G>A p.V604I Missense 11/107 - 1
1-185902943-C-T c.1815C>T p.F605= Synonymous 11/107 - 2
1-185902946-C-A c.1818C>A p.L606= Synonymous 11/107 - 2
1-185902946-C-G c.1818C>G p.L606= Synonymous 11/107 - 3
1-185902946-C-T c.1818C>T p.L606= Synonymous 11/107 - 2
1-185902948-C-T c.1820C>T p.T607I Missense 11/107 - 1
1-185902951-T-G c.1823T>G p.V608G Missense 11/107 - 2
1-185902952-G-T c.1824G>T p.V608= Synonymous 11/107 - 1
1-185902953-C-A c.1825C>A p.Q609K Missense 11/107 - 1
1-185902956-G-A c.1828G>A p.E610K Missense 11/107 - 1
1-185906206-C-T c.1828+3250C>T - IntronicSNV - 11/106 1
1-185909498-TA-T c.1828+6551del - IntronicDeletion - 11/106 1
1-185913155-C-G c.1828+10199C>G - IntronicSNV - 11/106 1
1-185913155-C-T c.1828+10199C>T - IntronicSNV - 11/106 1
1-185915072-TG-T c.1828+12116del - IntronicDeletion - 11/106 1
1-185919237-A-G c.1829-12413A>G - IntronicSNV - 11/106 1
1-185919242-A-T c.1829-12408A>T - IntronicSNV - 11/106 1
1-185919995-G-A c.1829-11655G>A - IntronicSNV - 11/106 1
1-185920016-G-A c.1829-11634G>A - IntronicSNV - 11/106 1
1-185920859-T-C c.1829-10791T>C - IntronicSNV - 11/106 1
1-185921211-C-G c.1829-10439C>G - IntronicSNV - 11/106 1
1-185921211-C-T c.1829-10439C>T - IntronicSNV - 11/106 1
1-185931631-C-T c.1829-19C>T - IntronicSNV - 11/106 1
1-185931645-T-A c.1829-5T>A - IntronicSNV - 11/106 1
1-185931653-C-T c.1832C>T p.P611L Missense 12/107 - 1
1-185931654-A-C c.1833A>C p.P611= Synonymous 12/107 - 1
1-185931654-A-G c.1833A>G p.P611= Synonymous 12/107 - 1
1-185931654-A-T c.1833A>T p.P611= Synonymous 12/107 - 1
1-185931656-C-T c.1835C>T p.P612L Missense 12/107 - 1
1-185931663-C-A c.1842C>A p.V614= Synonymous 12/107 - 1
1-185931665-C-A c.1844C>A p.T615N Missense 12/107 - 1
1-185931667-G-A c.1846G>A p.V616M Missense 12/107 - 1
1-185931667-G-C c.1846G>C p.V616L Missense 12/107 - 1
1-185931667-G-T c.1846G>T p.V616L Missense 12/107 - 1
1-185931668-T-A c.1847T>A p.V616E Missense 12/107 - 1
1-185931668-T-C c.1847T>C p.V616A Missense 12/107 - 1
1-185931673-C-G c.1852C>G p.P618A Missense 12/107 - 1
1-185931673-C-T c.1852C>T p.P618S Missense 12/107 - 2
1-185931674-C-A c.1853C>A p.P618H Missense 12/107 - 1
1-185931675-C-A c.1854C>A p.P618= Synonymous 12/107 - 1
1-185931678-G-A c.1857G>A p.K619= Synonymous 12/107 - 1
1-185931682-C-A c.1861C>A p.Q621K Missense 12/107 - 1
1-185931683-A-G c.1862A>G p.Q621R Missense 12/107 - 2
1-185931685-GT-G c.1864del p.S622Lfs*39 Frameshift 12/107 - 1
1-185931686-C-G c.1865C>G p.S622C Missense 12/107 - 1
1-185931686-C-T c.1865C>T p.S622F Missense 12/107 - 1
1-185931688-T-C c.1867T>C p.F623L Missense 12/107 - 3
1-185931690-C-A c.1869C>A p.F623L Missense 12/107 - 4
1-185931690-C-G c.1869C>G p.F623L Missense 12/107 - 3
1-185931690-C-T c.1869C>T p.F623= Synonymous 12/107 - 1
1-185931693-A-C c.1872A>C p.T624= Synonymous 12/107 - 1
1-185931693-A-G c.1872A>G p.T624= Synonymous 12/107 - 1
1-185931693-A-T c.1872A>T p.T624= Synonymous 12/107 - 1
1-185931694-GGA-TGT c.1873_1875delinsTGT p.G625C Missense 12/107 - 1
1-185931695-G-A c.1874G>A p.G625E Missense 12/107 - 4
1-185931695-G-C c.1874G>C p.G625A Missense 12/107 - 1
1-185931697-G-A c.1876G>A p.G626R Missense 12/107 - 1
1-185931697-G-T c.1876G>T p.G626W Missense 12/107 - 1
1-185931698-G-T c.1877G>T p.G626V Missense 12/107 - 6
1-185931701-C-A c.1880C>A p.S627Y Missense 12/107 - 1
1-185931703-G-A c.1882G>A p.E628K Missense 12/107 - 1
1-185931704-A-T c.1883A>T p.E628V Missense 12/107 - 1
1-185931708-C-A c.1887C>A p.V629= Synonymous 12/107 - 2
1-185931708-C-G c.1887C>G p.V629= Synonymous 12/107 - 2
1-185931708-C-T c.1887C>T p.V629= Synonymous 12/107 - 1
1-185931709-TC-CT c.1888_1889delinsCT p.S630L Missense 12/107 - 1
1-185931710-C-T c.1889C>T p.S630F Missense 12/107 - 4
1-185931714-C-T c.1893C>T p.I631= Synonymous 12/107 - 1
1-185931717-G-A c.1896G>A p.M632I Missense 12/107 - 1
1-185931717-G-C c.1896G>C p.M632I Missense 12/107 - 1
1-185931717-G-T c.1896G>T p.M632I Missense 12/107 - 1
1-185931719-G-A c.1898G>A p.C633Y Missense 12/107 - 1
1-185931720-T-C c.1899T>C p.C633= Synonymous 12/107 - 1
1-185931721-T-C c.1900T>C p.S634P Missense 12/107 - 1
1-185931727-A-T c.1906A>T p.T636S Missense 12/107 - 1
1-185931731-G-C c.1910G>C p.G637A Missense 12/107 - 1
1-185931734-A-G c.1913A>G p.Y638C Missense 12/107 - 1
1-185931734-A-T c.1913A>T p.Y638F Missense 12/107 - 1
1-185931737-C-A c.1916C>A p.P639H Missense 12/107 - 1
1-185931737-C-T c.1916C>T p.P639L Missense 12/107 - 2
1-185931738-C-A c.1917C>A p.P639= Synonymous 12/107 - 1
1-185931742-C-T c.1921C>T p.P641S Missense 12/107 - 2
1-185931743-C-G c.1922C>G p.P641R Missense 12/107 - 1
1-185931747-G-A c.1926G>A p.K642= Synonymous 12/107 - 1
1-185931747-G-C c.1926G>C p.K642N Missense 12/107 - 4
1-185931747-G-T c.1926G>T p.K642N Missense 12/107 - 3
1-185931751-G-A c.1930G>A p.A644T Missense 12/107 - 4
1-185931752-C-A c.1931C>A p.A644D Missense 12/107 - 1
1-185931752-C-T c.1931C>T p.A644V Missense 12/107 - 1
1-185931753-C-A c.1932C>A p.A644= Synonymous 12/107 - 2
1-185931753-C-G c.1932C>G p.A644= Synonymous 12/107 - 2
1-185931753-C-T c.1932C>T p.A644= Synonymous 12/107 - 2
1-185931758-C-T c.1937C>T p.T646I Missense 12/107 - 2
1-185931759-C-A c.1938C>A p.T646= Synonymous 12/107 - 1
1-185931759-C-G c.1938C>G p.T646= Synonymous 12/107 - 1
1-185931759-C-T c.1938C>T p.T646= Synonymous 12/107 - 3
1-185931760-G-A c.1939G>A p.V647I Missense 12/107 - 2
1-185931765-C-T c.1944C>T p.N648= Synonymous 12/107 - 2
1-185931766-G-A c.1945G>A p.D649N Missense 12/107 - 2
1-185931766-G-T c.1945G>T p.D649Y Missense 12/107 - 1
1-185931768-T-C c.1947T>C p.D649= Synonymous 12/107 - 2
1-185931770-T-C c.1949T>C p.M650T Missense 12/107 - 1
1-185931770-T-G c.1949T>G p.M650R Missense 12/107 - 1
1-185931771-G-A c.1950G>A p.M650I Missense 12/107 - 1
1-185931771-G-C c.1950G>C p.M650I Missense 12/107 - 2
1-185931771-G-T c.1950G>T p.M650I Missense 12/107 - 2
1-185931772-T-C c.1951T>C p.F651L Missense 12/107 - 2
1-185931774-T-A c.1953T>A p.F651L Missense 12/107 - 2
1-185931774-T-G c.1953T>G p.F651L Missense 12/107 - 2
1-185931777-C-A c.1956C>A p.I652= Synonymous 12/107 - 1
1-185931777-C-T c.1956C>T p.I652= Synonymous 12/107 - 4
1-185931778-G-A c.1957G>A p.V653M Missense 12/107 - 4
1-185931779-T-C c.1958T>C p.V653A Missense 12/107 - 1
1-185931781-G-T c.1960G>T p.G654C Missense 12/107 - 1
1-185931782-G-T c.1961G>T p.G654V Missense 12/107 - 2
1-185931788-A-G c.1967A>G p.H656R Missense 12/107 - 2
1-185931791-G-A c.1970G>A p.R657K Missense 12/107 - 2
1-185932806-C-T c.1971-94C>T - IntronicSNV - 12/106 1
1-185932900-G-A c.1971G>A p.R657= Synonymous 13/107 - 1
1-185932902-A-G c.1973A>G p.Y658C Missense 13/107 - 3
1-185932904-A-G c.1975A>G p.R659G Missense 13/107 - 1
1-185932904-A-C c.1975A>C p.R659= Synonymous 13/107 - 1
1-185932906-G-A c.1977G>A p.R659= Synonymous 13/107 - 1
1-185932911-C-A c.1982C>A p.T661N Missense 13/107 - 1
1-185932911-C-G c.1982C>G p.T661S Missense 13/107 - 1
1-185932914-C-T c.1985C>T p.S662L Missense 13/107 - 2
1-185932922-A-G c.1993A>G p.T665A Missense 13/107 - 2
1-185932922-A-T c.1993A>T p.T665S Missense 13/107 - 1
1-185932923-C-A c.1994C>A p.T665N Missense 13/107 - 1
1-185932923-C-G c.1994C>G p.T665S Missense 13/107 - 1
1-185932925-T-C c.1996T>C p.L666= Synonymous 13/107 - 2
1-185932925-T-G c.1996T>G p.L666V Missense 13/107 - 3
1-185932927-A-G c.1998A>G p.L666= Synonymous 13/107 - 1
1-185932933-C-G c.2004C>G p.I668M Missense 13/107 - 1
1-185932940-G-A c.2011G>A p.A671T Missense 13/107 - 1
1-185932941-C-T c.2012C>T p.A671V Missense 13/107 - 1
1-185932946-C-T c.2017C>T p.P673S Missense 13/107 - 1
1-185932951-A-C c.2022A>C p.K674N Missense 13/107 - 1
1-185932951-A-T c.2022A>T p.K674N Missense 13/107 - 1
1-185932953-A-C c.2024A>C p.D675A Missense 13/107 - 1
1-185932958-G-T c.2029G>T p.G677W Missense 13/107 - 1
1-185932964-T-C c.2035T>C p.Y679H Missense 13/107 - 1
1-185932970-T-A c.2041T>A p.C681S Missense 13/107 - 1
1-185932971-G-A c.2042G>A p.C681Y Missense 13/107 - 2
1-185932971-G-T c.2042G>T p.C681F Missense 13/107 - 4
1-185932972-C-T c.2043C>T p.C681= Synonymous 13/107 - 1
1-185932973-C-G c.2044C>G p.L682V Missense 13/107 - 2
1-185932973-C-T c.2044C>T p.L682= Synonymous 13/107 - 2
1-185932976-G-A c.2047G>A p.A683T Missense 13/107 - 1
1-185932978-A-C c.2049A>C p.A683= Synonymous 13/107 - 1
1-185932978-A-G c.2049A>G p.A683= Synonymous 13/107 - 1
1-185932978-A-T c.2049A>T p.A683= Synonymous 13/107 - 1
1-185932979-A-G c.2050A>G p.S684G Missense 13/107 - 1
1-185932981-T-C c.2052T>C p.S684= Synonymous 13/107 - 4
1-185932982-A-G c.2053A>G p.N685D Missense 13/107 - 1
1-185932986-C-A c.2057C>A p.S686* Nonsense 13/107 - 1
1-185932986-C-G c.2057C>G p.S686* Nonsense 13/107 - 1
1-185932989-C-T c.2060C>T p.A687V Missense 13/107 - 1
1-185932989-GC-G c.2060del p.A687Vfs*18 Frameshift 13/107 - 1
1-185932991-G-A c.2062G>A p.G688R Missense 13/107 - 2
1-185932991-TGG-T c.2062_2063del p.G688Nfs*3 Frameshift 13/107 - 1
1-185932992-G-C c.2063G>C p.G688A Missense 13/107 - 1
1-185932992-G-T c.2063G>T p.G688V Missense 13/107 - 1
1-185932995-C-A c.2066C>A p.T689K Missense 13/107 - 2
1-185932998-A-T c.2069A>T p.D690V Missense 13/107 - 2
1-185933003-C-G c.2074C>G p.Q692E Missense 13/107 - 1
1-185933005-G-A c.2076G>A p.Q692= Synonymous 13/107 - 2
1-185933005-G-C c.2076G>C p.Q692H Missense 13/107 - 1
1-185933005-G-T c.2076G>T p.Q692H Missense 13/107 - 1
1-185933007-A-T c.2078A>T p.N693I Missense 13/107 - 1
1-185933009-TC-GG c.2080_2081delinsGG p.S694G Missense 13/107 - 1
1-185933010-CT-AA c.2081_2082delinsAA p.S694* Nonsense 13/107 - 1
1-185933013-CT-TG c.2084_2085delinsTG p.T695M Missense 13/107 - 2
1-185933017-C-A c.2088C>A p.L696= Synonymous 13/107 - 1
1-185933017-C-G c.2088C>G p.L696= Synonymous 13/107 - 1
1-185933017-C-T c.2088C>T p.L696= Synonymous 13/107 - 1
1-185933018-AGA-CAT c.2089_2091delinsCAT p.R697H Missense 13/107 - 1
1-185933018-AGA-TGT c.2089_2091delinsTGT p.R697C Missense 13/107 - 1
1-185933019-G-C c.2090G>C p.R697T Missense 13/107 - 1
1-185933021-T-A c.2092T>A p.Y698N Missense 13/107 - 1
1-185933027-G-C c.2098G>C p.E700Q Missense 13/107 - 1
1-185934937-C-T c.2102C>T p.A701V Missense 14/107 - 1
1-185934939-C-T c.2104C>T p.P702S Missense 14/107 - 2
1-185934943-A-C c.2108A>C p.K703T Missense 14/107 - 1
1-185934945-T-C c.2110T>C p.L704= Synonymous 14/107 - 1
1-185934949-T-C c.2114T>C p.M705T Missense 14/107 - 1
1-185934951-G-A c.2116G>A p.V706I Missense 14/107 - 1
1-185934954-G-T c.2119G>T p.V707F Missense 14/107 - 3
1-185934954-GTT-ATG c.2119_2121delinsATG p.V707M Missense 14/107 - 1
1-185934959-G-C c.2124G>C p.Q708H Missense 14/107 - 1
1-185934963-G-A c.2128G>A p.E710K Missense 14/107 - 1
1-185934968-C-T c.2133C>T p.L711= Synonymous 14/107 - 1
1-185934972-G-A c.2137G>A p.V713I Missense 14/107 - 1
1-185934973-T-C c.2138T>C p.V713A Missense 14/107 - 1
1-185934976-C-G c.2141C>G p.A714G Missense 14/107 - 1
1-185934978-C-G c.2143C>G p.L715V Missense 14/107 - 1
1-185934978-C-T c.2143C>T p.L715F Missense 14/107 - 2
1-185934980-T-C c.2145T>C p.L715= Synonymous 14/107 - 1
1-185934981-G-A c.2146G>A p.G716R Missense 14/107 - 1
1-185934981-GGG-AGC c.2146_2148delinsAGC p.G716S Missense 14/107 - 1
1-185934981-G-T c.2146G>T p.G716W Missense 14/107 - 1
1-185934982-G-C c.2147G>C p.G716A Missense 14/107 - 1
1-185934983-G-A c.2148G>A p.G716= Synonymous 14/107 - 1
1-185934983-G-C c.2148G>C p.G716= Synonymous 14/107 - 1
1-185934983-G-T c.2148G>T p.G716= Synonymous 14/107 - 1
1-185934984-G-A c.2149G>A p.D717N Missense 14/107 - 10
1-185934984-G-C c.2149G>C p.D717H Missense 14/107 - 1
1-185934986-T-A c.2151T>A p.D717E Missense 14/107 - 1
1-185934986-T-G c.2151T>G p.D717E Missense 14/107 - 1
1-185934988-T-C c.2153T>C p.I718T Missense 14/107 - 1
1-185934990-A-G c.2155A>G p.T719A Missense 14/107 - 1
1-185934992-C-A c.2157C>A p.T719= Synonymous 14/107 - 2
1-185934992-C-G c.2157C>G p.T719= Synonymous 14/107 - 2
1-185934992-C-T c.2157C>T p.T719= Synonymous 14/107 - 2
1-185934993-G-A c.2158G>A p.V720I Missense 14/107 - 4
1-185934993-G-T c.2158G>T p.V720F Missense 14/107 - 2
1-185934994-T-C c.2159T>C p.V720A Missense 14/107 - 1
1-185934997-T-C c.2162T>C p.M721T Missense 14/107 - 1
1-185934998-G-T c.2163G>T p.M721I Missense 14/107 - 1
1-185934999-G-A c.2164G>A p.E722K Missense 14/107 - 6
1-185934999-G-T c.2164G>T p.E722* Nonsense 14/107 - 3
1-185935000-A-G c.2165A>G p.E722G Missense 14/107 - 1
1-185935005-A-G c.2170A>G p.K724E Missense 14/107 - 1
1-185935009-C-A c.2174C>A p.T725N Missense 14/107 - 1
1-185935009-C-T c.2174C>T p.T725I Missense 14/107 - 1
1-185935010-C-T c.2175C>T p.T725= Synonymous 14/107 - 1
1-185935013-T-A c.2178T>A p.S726= Synonymous 14/107 - 1
1-185935013-T-C c.2178T>C p.S726= Synonymous 14/107 - 1
1-185935013-T-G c.2178T>G p.S726= Synonymous 14/107 - 1
1-185935015-G-C c.2180G>C p.G727A Missense 14/107 - 1
1-185935017-A-G c.2182A>G p.I728V Missense 14/107 - 1
1-185935021-C-T c.2186C>T p.P729L Missense 14/107 - 1
1-185935023-C-T c.2188C>T p.P730S Missense 14/107 - 1
1-185935024-C-T c.2189C>T p.P730L Missense 14/107 - 1
1-185935026-C-G c.2191C>G p.P731A Missense 14/107 - 1
1-185935026-C-T c.2191C>T p.P731S Missense 14/107 - 1
1-185935029-C-T c.2194C>T p.Q732* Nonsense 14/107 - 3
1-185935031-A-C c.2196A>C p.Q732H Missense 14/107 - 1
1-185935031-A-T c.2196A>T p.Q732H Missense 14/107 - 1
1-185935032-G-C c.2197G>C p.V733L Missense 14/107 - 1
1-185935032-G-T c.2197G>T p.V733F Missense 14/107 - 1
1-185935038-T-C c.2203T>C p.W735R Missense 14/107 - 1
1-185935040-G-T c.2205G>T p.W735C Missense 14/107 - 2
1-185935041-T-C c.2206T>C p.F736L Missense 14/107 - 1
1-185935048-G-T c.2212+1G>T - IntronicSNV - 14/106 1
1-185935101-A-T c.2212+54A>T - IntronicSNV - 14/106 3
1-185939460-G-A c.2213-7G>A - IntronicSNV - 14/106 1
1-185939460-G-T c.2213-7G>T - IntronicSNV - 14/106 1
1-185939469-G-A c.2215G>A p.D739N Missense 15/107 - 1
1-185939473-T-C c.2219T>C p.L740P Missense 15/107 - 1
1-185939476-A-C c.2222A>C p.E741A Missense 15/107 - 1
1-185939476-A-G c.2222A>G p.E741G Missense 15/107 - 1
1-185939477-G-T c.2223G>T p.E741D Missense 15/107 - 1
1-185939478-T-C c.2224T>C p.L742= Synonymous 15/107 - 1
1-185939480-G-A c.2226G>A p.L742= Synonymous 15/107 - 1
1-185939481-AGG-CAT c.2227_2229delinsCAT p.R743H Missense 15/107 - 1
1-185939483-G-A c.2229G>A p.R743= Synonymous 15/107 - 1
1-185939483-G-C c.2229G>C p.R743S Missense 15/107 - 2
1-185939483-G-T c.2229G>T p.R743S Missense 15/107 - 1
1-185939484-C-T c.2230C>T p.P744S Missense 15/107 - 1
1-185939489-A-C c.2235A>C p.S745= Synonymous 15/107 - 1
1-185939491-C-T c.2237C>T p.T746I Missense 15/107 - 1
1-185939492-A-T c.2238A>T p.T746= Synonymous 15/107 - 1
1-185939500-T-C c.2246T>C p.I749T Missense 15/107 - 1
1-185939500-T-G c.2246T>G p.I749S Missense 15/107 - 2
1-185939505-G-A c.2251G>A p.D751N Missense 15/107 - 1
1-185939505-G-T c.2251G>T p.D751Y Missense 15/107 - 1
1-185939506-A-T c.2252A>T p.D751V Missense 15/107 - 1
1-185939508-C-A c.2254C>A p.P752T Missense 15/107 - 2
1-185939509-C-A c.2255C>A p.P752H Missense 15/107 - 1
1-185939512-T-C c.2258T>C p.L753P Missense 15/107 - 1
1-185939513-C-A c.2259C>A p.L753= Synonymous 15/107 - 1
1-185939513-C-G c.2259C>G p.L753= Synonymous 15/107 - 1
1-185939513-C-T c.2259C>T p.L753= Synonymous 15/107 - 1
1-185939514-T-G c.2260T>G p.L754V Missense 15/107 - 1
1-185939515-T-G c.2261T>G p.L754W Missense 15/107 - 1
1-185939516-G-T c.2262G>T p.L754F Missense 15/107 - 1
1-185939517-G-A c.2263G>A p.G755R Missense 15/107 - 2
1-185939517-G-C c.2263G>C p.G755R Missense 15/107 - 1
1-185939517-GG-AC c.2263_2264delinsAC p.G755T Missense 15/107 - 1
1-185939517-G-T c.2263G>T p.G755* Nonsense 15/107 - 3
1-185939518-G-T c.2264G>T p.G755V Missense 15/107 - 1
1-185939521-T-A c.2267T>A p.L756H Missense 15/107 - 1
1-185939523-T-C c.2269T>C p.L757= Synonymous 15/107 - 3
1-185939525-G-A c.2271G>A p.L757= Synonymous 15/107 - 1
1-185939524-T-C c.2270T>C p.L757S Missense 15/107 - 1
1-185939528-G-A c.2274G>A p.K758= Synonymous 15/107 - 2
1-185939528-G-T c.2274G>T p.K758N Missense 15/107 - 1
1-185939529-A-C c.2275A>C p.I759L Missense 15/107 - 1
1-185939533-A-C c.2279A>C p.Q760P Missense 15/107 - 1
1-185939533-A-G c.2279A>G p.Q760R Missense 15/107 - 1
1-185939535-G-A c.2281G>A p.E761K Missense 15/107 - 2
1-185939539-C-T c.2285C>T p.T762I Missense 15/107 - 1
1-185939540-A-C c.2286A>C p.T762= Synonymous 15/107 - 1
1-185939540-A-G c.2286A>G p.T762= Synonymous 15/107 - 1
1-185939540-A-T c.2286A>T p.T762= Synonymous 15/107 - 1
1-185939541-C-T c.2287C>T p.Q763* Nonsense 15/107 - 1
1-185939544-G-A c.2290G>A p.D764N Missense 15/107 - 1
1-185939544-G-C c.2290G>C p.D764H Missense 15/107 - 1
1-185939547-C-T c.2293C>T p.L765= Synonymous 15/107 - 1
1-185939549-G-A c.2295G>A p.L765= Synonymous 15/107 - 1
1-185939553-G-A c.2299G>A p.A767T Missense 15/107 - 1
1-185939556-G-T c.2302G>T p.G768C Missense 15/107 - 1
1-185939557-G-T c.2303G>T p.G768V Missense 15/107 - 1
1-185939558-C-A c.2304C>A p.G768= Synonymous 15/107 - 5
1-185939558-C-G c.2304C>G p.G768= Synonymous 15/107 - 4
1-185939558-C-T c.2304C>T p.G768= Synonymous 15/107 - 6
1-185939559-G-A c.2305G>A p.D769N Missense 15/107 - 4
1-185939566-C-T c.2312C>T p.T771I Missense 15/107 - 1
1-185939568-T-A c.2314T>A p.C772S Missense 15/107 - 2
1-185939569-G-C c.2315G>C p.C772S Missense 15/107 - 1
1-185939571-G-A c.2317G>A p.V773I Missense 15/107 - 3
1-185939571-G-C c.2317G>C p.V773L Missense 15/107 - 2
1-185939571-G-T c.2317G>T p.V773L Missense 15/107 - 1
1-185939575-C-T c.2321C>T p.A774V Missense 15/107 - 1
1-185939580-A-C c.2326A>C p.N776H Missense 15/107 - 1
1-185939581-A-G c.2327A>G p.N776S Missense 15/107 - 1
1-185939595-G-A c.2341G>A p.A781T Missense 15/107 - 1
1-185939596-C-T c.2342C>T p.A781V Missense 15/107 - 1
1-185939599-C-A c.2345C>A p.T782N Missense 15/107 - 1
1-185939600-T-A c.2346T>A p.T782= Synonymous 15/107 - 1
1-185939600-T-C c.2346T>C p.T782= Synonymous 15/107 - 1
1-185939600-T-G c.2346T>G p.T782= Synonymous 15/107 - 1
1-185939610-A-G c.2356A>G p.T786A Missense 15/107 - 3
1-185939611-AC-A c.2357del p.T786Ifs*25 Frameshift 15/107 - 2
1-185939616-G-C c.2362G>C p.D788H Missense 15/107 - 1
1-185939619-G-C c.2365G>C p.V789L Missense 15/107 - 1
1-185939621-T-A c.2367T>A p.V789= Synonymous 15/107 - 1
1-185939621-T-C c.2367T>C p.V789= Synonymous 15/107 - 1
1-185939621-T-G c.2367T>G p.V789= Synonymous 15/107 - 1
1-185939626-G-T c.2371+1G>T - IntronicSNV - 15/106 1
1-185939631-C-T c.2371+6C>T - IntronicSNV - 15/106 1
1-185940442-CA-C c.2371+824del - IntronicDeletion - 15/106 1
1-185940714-GT-G c.2371+1097del - IntronicDeletion - 15/106 1
1-185942715-A-T c.2371+3090A>T - IntronicSNV - 15/106 1
1-185946861-G-T c.2372-58G>T - IntronicSNV - 15/106 1
1-185946919-C-G c.2372C>G p.S791* Nonsense 16/107 - 1
1-185946919-C-T c.2372C>T p.S791L Missense 16/107 - 1
1-185946920-CACCTCCAGT-C c.2373_2381del p.P792_V794del SpliceAcceptorDeletion 16/107 - 1
1-185946922-C-T c.2375C>T p.P792L Missense 16/107 - 1
1-185946924-C-T c.2377C>T p.P793S Missense 16/107 - 9
1-185946932-C-T c.2385C>T p.F795= Synonymous 16/107 - 1
1-185946933-A-G c.2386A>G p.I796V Missense 16/107 - 1
1-185946936-C-A c.2389C>A p.Q797K Missense 16/107 - 2
1-185946936-C-T c.2389C>T p.Q797* Nonsense 16/107 - 3
1-185946937-A-G c.2390A>G p.Q797R Missense 16/107 - 1
1-185946938-A-C c.2391A>C p.Q797H Missense 16/107 - 1
1-185946939-G-A c.2392G>A p.E798K Missense 16/107 - 2
1-185946939-G-T c.2392G>T p.E798* Nonsense 16/107 - 3
1-185946940-A-G c.2393A>G p.E798G Missense 16/107 - 1
1-185946943-C-A c.2396C>A p.P799H Missense 16/107 - 1
1-185946943-C-G c.2396C>G p.P799R Missense 16/107 - 1
1-185946945-G-T c.2398G>T p.A800S Missense 16/107 - 1
1-185946950-T-G c.2403T>G p.D801E Missense 16/107 - 2
1-185946951-G-C c.2404G>C p.V802L Missense 16/107 - 1
1-185946951-GTG-ATC c.2404_2406delinsATC p.V802I Missense 16/107 - 1
1-185946954-TC-CG c.2407_2408delinsCG p.S803R Missense 16/107 - 1
1-185946959-G-A c.2412G>A p.M804I Missense 16/107 - 3
1-185946959-G-C c.2412G>C p.M804I Missense 16/107 - 2
1-185946959-G-T c.2412G>T p.M804I Missense 16/107 - 2
1-185946960-G-A c.2413G>A p.E805K Missense 16/107 - 2
1-185946960-G-C c.2413G>C p.E805Q Missense 16/107 - 1
1-185946962-A-G c.2415A>G p.E805= Synonymous 16/107 - 1
1-185946966-G-A c.2419G>A p.G807S Missense 16/107 - 1
1-185946967-G-A c.2420G>A p.G807D Missense 16/107 - 4
1-185946973-A-T c.2426A>T p.N809I Missense 16/107 - 1
1-185946981-T-C c.2434T>C p.L812= Synonymous 16/107 - 1
1-185946983-A-G c.2436A>G p.L812= Synonymous 16/107 - 1
1-185946987-T-C c.2440T>C p.C814R Missense 16/107 - 1
1-185946988-G-C c.2441G>C p.C814S Missense 16/107 - 1
1-185946988-G-T c.2441G>T p.C814F Missense 16/107 - 1
1-185946989-T-A c.2442T>A p.C814* Nonsense 16/107 - 3
1-185946990-T-C c.2443T>C p.Y815H Missense 16/107 - 1
1-185946991-A-C c.2444A>C p.Y815S Missense 16/107 - 1
1-185946993-G-C c.2446G>C p.V816L Missense 16/107 - 1
1-185946996-C-T c.2449C>T p.Q817* Nonsense 16/107 - 1
1-185946997-A-G c.2450A>G p.Q817R Missense 16/107 - 1
1-185946998-G-A c.2451G>A p.Q817= Synonymous 16/107 - 1
1-185946999-G-C c.2452G>C p.G818R Missense 16/107 - 1
1-185947000-G-A c.2453G>A p.G818D Missense 16/107 - 1
1-185947005-C-A c.2458C>A p.P820T Missense 16/107 - 1
1-185947014-A-G c.2467A>G p.T823A Missense 16/107 - 1
1-185947016-A-G c.2469A>G p.T823= Synonymous 16/107 - 1
1-185947017-A-G c.2470A>G p.I824V Missense 16/107 - 1
1-185947019-C-G c.2472C>G p.I824M Missense 16/107 - 1
1-185947023-T-A c.2476T>A p.W826R Missense 16/107 - 1
1-185947023-T-C c.2476T>C p.W826R Missense 16/107 - 1
1-185947024-G-A c.2477G>A p.W826* Nonsense 16/107 - 2
1-185947025-G-A c.2478G>A p.W826* Nonsense 16/107 - 1
1-185947026-CGA-AGC c.2479_2481delinsAGC p.R827S Missense 16/107 - 1
1-185947026-CGA-TGG c.2479_2481delinsTGG p.R827W Missense 16/107 - 1
1-185947027-G-A c.2480G>A p.R827Q Missense 16/107 - 6
1-185947029-A-C c.2482A>C p.R828= Synonymous 16/107 - 1
1-185947031-A-G c.2484A>G p.R828= Synonymous 16/107 - 1
1-185947032-T-G c.2485T>G p.L829V Missense 16/107 - 1
1-185947033-T-A c.2486T>A p.L829* Nonsense 16/107 - 1
1-185947033-T-G c.2486T>G p.L829* Nonsense 16/107 - 1
1-185947034-A-C c.2487A>C p.L829F Missense 16/107 - 1
1-185947034-A-T c.2487A>T p.L829F Missense 16/107 - 1
1-185947035-G-T c.2488G>T p.D830Y Missense 16/107 - 2
1-185947044-C-T c.2497C>T p.P833S Missense 16/107 - 1
1-185947047-A-G c.2500A>G p.I834V Missense 16/107 - 2
1-185947047-A-T c.2500A>T p.I834F Missense 16/107 - 1
1-185947049-T-C c.2502T>C p.I834= Synonymous 16/107 - 1
1-185947052-C-G c.2505C>G p.F835L Missense 16/107 - 1
1-185947053-TC-AG c.2506_2507delinsAG p.S836R Missense 16/107 - 1
1-185947053-T-G c.2506T>G p.S836A Missense 16/107 - 1
1-185947054-C-A c.2507C>A p.S836* Nonsense 16/107 - 2
1-185947054-C-G c.2507C>G p.S836* Nonsense 16/107 - 3
1-185947054-C-T c.2507C>T p.S836L Missense 16/107 - 4
1-185947056-AG-CC c.2509_2510delinsCC p.R837P Missense 16/107 - 1
1-185947057-G-T c.2510G>T p.R837I Missense 16/107 - 3
1-185947059-C-A c.2512C>A p.P838T Missense 16/107 - 1
1-185947061-T-G c.2514T>G p.P838= Synonymous 16/107 - 1
1-185947062-T-G c.2515T>G p.F839V Missense 16/107 - 1
1-185947060-CT-C c.2518del p.S840Qfs*8 Frameshift 16/107 - 1
1-185947066-C-T c.2519C>T p.S840L Missense 16/107 - 1
1-185947071-A-G c.2524A>G p.S842G Missense 16/107 - 1
1-185947080-A-G c.2533A>G p.S845G Missense 16/107 - 1
1-185947080-AG-CT c.2533_2534inv p.S845L Missense 16/107 - 1
1-185947080-AG-TA c.2533_2534delinsTA p.S845Y Missense 16/107 - 1
1-185947089-AG-CA c.2542_2543delinsCA p.R848Q Missense 16/107 - 1
1-185947089-AG-CT c.2542_2543inv p.R848L Missense 16/107 - 1
1-185947090-G-A c.2543G>A p.R848K Missense 16/107 - 1
1-185947090-G-T c.2543G>T p.R848I Missense 16/107 - 3
1-185947092-A-T c.2545A>T p.T849S Missense 16/107 - 1
1-185947093-C-T c.2546C>T p.T849I Missense 16/107 - 1
1-185947095-GGA-TGT c.2548_2550delinsTGT p.G850C Missense 16/107 - 1
1-185947099-C-T c.2552C>T p.A851V Missense 16/107 - 1
1-185947102-T-C c.2555T>C p.L852P Missense 16/107 - 1
1-185947104-T-C c.2557T>C p.F853L Missense 16/107 - 1
1-185947104-T-G c.2557T>G p.F853V Missense 16/107 - 1
1-185947106-T-A c.2559T>A p.F853L Missense 16/107 - 1
1-185947106-T-G c.2559T>G p.F853L Missense 16/107 - 1
1-185947106-T-C c.2559T>C p.F853= Synonymous 16/107 - 1
1-185947587-A-G c.2566+474A>G - IntronicSNV - 16/106 1
1-185950112-T-A c.2569T>A p.L857I Missense 17/107 - 1
1-185950115-T-A c.2572T>A p.W858R Missense 17/107 - 1
1-185950115-T-C c.2572T>C p.W858R Missense 17/107 - 1
1-185950116-G-T c.2573G>T p.W858L Missense 17/107 - 1
1-185950118-G-A c.2575G>A p.A859T Missense 17/107 - 1
1-185950119-C-T c.2576C>T p.A859V Missense 17/107 - 1
1-185950122-G-C c.2579G>C p.S860T Missense 17/107 - 1
1-185950124-G-A c.2581G>A p.D861N Missense 17/107 - 3
1-185950126-T-C c.2583T>C p.D861= Synonymous 17/107 - 1
1-185950129-A-G c.2586A>G p.K862= Synonymous 17/107 - 1
1-185950131-G-C c.2588G>C p.G863A Missense 17/107 - 1
1-185950136-T-C c.2593T>C p.Y865H Missense 17/107 - 1
1-185950137-A-G c.2594A>G p.Y865C Missense 17/107 - 1
1-185950141-T-G c.2598T>G p.I866M Missense 17/107 - 3
1-185950142-TG-AC c.2599_2600delinsAC p.C867T Missense 17/107 - 1
1-185950153-A-G c.2610A>G p.E870= Synonymous 17/107 - 2
1-185950157-C-A c.2614C>A p.Q872K Missense 17/107 - 1
1-185950157-C-G c.2614C>G p.Q872E Missense 17/107 - 2
1-185950157-C-T c.2614C>T p.Q872* Nonsense 17/107 - 2
1-185950158-A-C c.2615A>C p.Q872P Missense 17/107 - 1
1-185950158-A-G c.2615A>G p.Q872R Missense 17/107 - 2
1-185950159-G-C c.2616G>C p.Q872H Missense 17/107 - 1
1-185950159-G-T c.2616G>T p.Q872H Missense 17/107 - 1
1-185950163-G-A c.2620G>A p.G874R Missense 17/107 - 1
1-185950167-A-G c.2624A>G p.K875R Missense 17/107 - 1
1-185950171-C-T c.2628C>T p.I876= Synonymous 17/107 - 1
1-185950172-C-G c.2629C>G p.Q877E Missense 17/107 - 3
1-185950176-C-A c.2633C>A p.S878* Nonsense 17/107 - 1
1-185950176-C-G c.2633C>G p.S878* Nonsense 17/107 - 1
1-185950184-ACA-TGT c.2641_2643inv p.T881C Missense 17/107 - 1
1-185950185-CA-TG c.2642_2643inv p.T881M Missense 17/107 - 1
1-185950185-C-T c.2642C>T p.T881I Missense 17/107 - 1
1-185950190-A-G c.2647A>G p.T883A Missense 17/107 - 1
1-185950191-CA-AC c.2648_2649delinsAC p.T883N Missense 17/107 - 1
1-185950191-C-G c.2648C>G p.T883R Missense 17/107 - 1
1-185950192-A-G c.2649A>G p.T883= Synonymous 17/107 - 1
1-185950197-C-A c.2654C>A p.T885N Missense 17/107 - 3
1-185950199-G-A c.2656G>A p.G886R Missense 17/107 - 2
1-185950199-G-C c.2656G>C p.G886R Missense 17/107 - 1
1-185950199-G-T c.2656G>T p.G886* Nonsense 17/107 - 2
1-185950204-T-G c.2661T>G p.L887= Synonymous 17/107 - 1
1-185950226-A-G c.2662+21A>G - IntronicSNV - 17/106 1
1-185950289-TA-T c.2662+93del - IntronicDeletion - 17/106 1
1-185951134-C-G c.2663-260C>G - IntronicSNV - 17/106 1
1-185951134-C-T c.2663-260C>T - IntronicSNV - 17/106 1
1-185951396-G-A c.2665G>A p.A889T Missense 18/107 - 1
1-185951397-C-T c.2666C>T p.A889V Missense 18/107 - 1
1-185951402-C-G c.2671C>G p.L891V Missense 18/107 - 1
1-185951408-G-A c.2677G>A p.G893R Missense 18/107 - 1
1-185951408-GGA-AGC c.2677_2679delinsAGC p.G893S Missense 18/107 - 1
1-185951413-C-G c.2682C>G p.I894M Missense 18/107 - 1
1-185951415-G-A c.2684G>A p.S895N Missense 18/107 - 1
1-185951414-A-C c.2683A>C p.S895R Missense 18/107 - 2
1-185951416-C-A c.2685C>A p.S895R Missense 18/107 - 2
1-185951416-C-G c.2685C>G p.S895R Missense 18/107 - 2
1-185951418-C-A c.2687C>A p.P896H Missense 18/107 - 1
1-185951422-A-C c.2691A>C p.S897= Synonymous 18/107 - 1
1-185951422-A-G c.2691A>G p.S897= Synonymous 18/107 - 1
1-185951422-A-T c.2691A>T p.S897= Synonymous 18/107 - 1
1-185951424-T-C c.2693T>C p.V898A Missense 18/107 - 1
1-185951426-G-A c.2695G>A p.A899T Missense 18/107 - 1
1-185951427-C-G c.2696C>G p.A899G Missense 18/107 - 1
1-185951429-A-C c.2698A>C p.N900H Missense 18/107 - 1
1-185951430-A-G c.2699A>G p.N900S Missense 18/107 - 1
1-185951431-T-A c.2700T>A p.N900K Missense 18/107 - 2
1-185951431-T-G c.2700T>G p.N900K Missense 18/107 - 1
1-185951435-A-G c.2704A>G p.I902V Missense 18/107 - 1
1-185951440-A-G c.2709A>G p.E903= Synonymous 18/107 - 1
1-185951441-G-A c.2710G>A p.G904R Missense 18/107 - 1
1-185951442-G-C c.2711G>C p.G904A Missense 18/107 - 1
1-185951446-G-A c.2715G>A p.Q905= Synonymous 18/107 - 2
1-185951453-A-G c.2722A>G p.T908A Missense 18/107 - 1
1-185951454-C-T c.2723C>T p.T908I Missense 18/107 - 6
1-185951455-T-A c.2724T>A p.T908= Synonymous 18/107 - 1
1-185951455-T-C c.2724T>C p.T908= Synonymous 18/107 - 1
1-185951455-T-G c.2724T>G p.T908= Synonymous 18/107 - 2
1-185951456-T-A c.2725T>A p.L909M Missense 18/107 - 1
1-185951458-G-C c.2727G>C p.L909F Missense 18/107 - 5
1-185951458-G-T c.2727G>T p.L909F Missense 18/107 - 8
1-185951459-C-A c.2728C>A p.P910T Missense 18/107 - 1
1-185951461-C-A c.2730C>A p.P910= Synonymous 18/107 - 3
1-185951461-C-G c.2730C>G p.P910= Synonymous 18/107 - 3
1-185951461-C-T c.2730C>T p.P910= Synonymous 18/107 - 3
1-185951466-C-T c.2735C>T p.T912I Missense 18/107 - 1
1-185951468-C-G c.2737C>G p.L913V Missense 18/107 - 1
1-185951471-T-A c.2740T>A p.L914I Missense 18/107 - 1
1-185951471-T-C c.2740T>C p.L914= Synonymous 18/107 - 1
1-185951473-A-G c.2742A>G p.L914= Synonymous 18/107 - 1
1-185951472-T-C c.2741T>C p.L914S Missense 18/107 - 1
1-185951477-G-A c.2746G>A p.G916R Missense 18/107 - 1
1-185951477-G-C c.2746G>C p.G916R Missense 18/107 - 1
1-185951478-G-A c.2747G>A p.G916E Missense 18/107 - 3
1-185951478-G-T c.2747G>T p.G916V Missense 18/107 - 1
1-185951480-A-G c.2749A>G p.N917D Missense 18/107 - 2
1-185951481-A-G c.2750A>G p.N917S Missense 18/107 - 1
1-185951481-A-T c.2750A>T p.N917I Missense 18/107 - 1
1-185951482-T-A c.2751T>A p.N917K Missense 18/107 - 4
1-185951482-T-G c.2751T>G p.N917K Missense 18/107 - 2
1-185951485-C-T c.2754C>T p.P918= Synonymous 18/107 - 1
1-185951486-A-T c.2755A>T p.I919F Missense 18/107 - 1
1-185951489-C-G c.2758C>G p.P920A Missense 18/107 - 2
1-185951489-C-T c.2758C>T p.P920S Missense 18/107 - 2
1-185951495-C-T c.2764C>T p.R922C Missense 18/107 - 3
1-185951496-G-A c.2765G>A p.R922H Missense 18/107 - 3
1-185951496-G-T c.2765G>T p.R922L Missense 18/107 - 2
1-185951498-C-T c.2767C>T p.R923W Missense 18/107 - 2
1-185951499-G-A c.2768G>A p.R923Q Missense 18/107 - 4
1-185951501-T-A c.2770T>A p.W924R Missense 18/107 - 1
1-185951504-A-T c.2773A>T p.I925F Missense 18/107 - 5
1-185951508-A-T c.2777A>T p.K926M Missense 18/107 - 1
1-185951509-G-A c.2778G>A p.K926= Synonymous 18/107 - 1
1-185951509-G-C c.2778G>C p.K926N Missense 18/107 - 2
1-185951509-G-T c.2778G>T p.K926N Missense 18/107 - 3
1-185951510-A-C c.2779A>C p.N927H Missense 18/107 - 1
1-185951513-TC-AG c.2782_2783delinsAG p.S928R Missense 18/107 - 1
1-185951514-C-T c.2783C>T p.S928L Missense 18/107 - 1
1-185951517-C-G c.2786C>G p.A929G Missense 18/107 - 1
1-185951519-A-G c.2788A>G p.M930V Missense 18/107 - 1
1-185951520-T-C c.2789T>C p.M930T Missense 18/107 - 1
1-185951565-T-G c.2790+44T>G - IntronicSNV - 18/106 1
1-185951568-C-T c.2790+47C>T - IntronicSNV - 18/106 2
1-185951573-C-T c.2790+52C>T - IntronicSNV - 18/106 1
1-185951573-C-CT c.2790+67dup - IntronicInsertion - 18/106 1
1-185951573-CT-C c.2790+67del - IntronicDeletion - 18/106 2
1-185953302-T-G c.2792T>G p.L931W Missense 19/107 - 1
1-185953304-GC-G c.2794del p.L932Sfs*67 Frameshift 19/107 - 1
1-185953305-T-A c.2795T>A p.L932H Missense 19/107 - 1
1-185953306-C-A c.2796C>A p.L932= Synonymous 19/107 - 1
1-185953313-C-A c.2803C>A p.P935T Missense 19/107 - 1
1-185953314-C-A c.2804C>A p.P935H Missense 19/107 - 1
1-185953314-C-T c.2804C>T p.P935L Missense 19/107 - 3
1-185953323-C-T c.2813C>T p.T938I Missense 19/107 - 3
1-185953325-G-A c.2815G>A p.V939M Missense 19/107 - 3
1-185953328-C-T c.2818C>T p.R940C Missense 19/107 - 7
1-185953329-G-A c.2819G>A p.R940H Missense 19/107 - 1
1-185953330-C-A c.2820C>A p.R940= Synonymous 19/107 - 1
1-185953330-C-G c.2820C>G p.R940= Synonymous 19/107 - 1
1-185953330-C-T c.2820C>T p.R940= Synonymous 19/107 - 1
1-185953331-A-T c.2821A>T p.S941C Missense 19/107 - 1
1-185953334-G-A c.2824G>A p.D942N Missense 19/107 - 1
1-185953336-T-A c.2826T>A p.D942E Missense 19/107 - 1
1-185953336-T-G c.2826T>G p.D942E Missense 19/107 - 1
1-185953337-G-A c.2827G>A p.G943R Missense 19/107 - 1
1-185953337-G-C c.2827G>C p.G943R Missense 19/107 - 1
1-185953339-G-A c.2829G>A p.G943= Synonymous 19/107 - 2
1-185953339-G-C c.2829G>C p.G943= Synonymous 19/107 - 2
1-185953339-G-T c.2829G>T p.G943= Synonymous 19/107 - 2
1-185953340-A-T c.2830A>T p.S944C Missense 19/107 - 1
1-185953341-G-A c.2831G>A p.S944N Missense 19/107 - 2
1-185953343-C-T c.2833C>T p.L945F Missense 19/107 - 2
1-185953346-C-T c.2836C>T p.H946Y Missense 19/107 - 4
1-185953348-T-C c.2838T>C p.H946= Synonymous 19/107 - 1
1-185953352-G-T c.2842G>T p.E948* Nonsense 19/107 - 1
1-185953354-A-C c.2844A>C p.E948D Missense 19/107 - 1
1-185953354-A-T c.2844A>T p.E948D Missense 19/107 - 1
1-185953355-AG-CT c.2845_2846inv p.R949L Missense 19/107 - 1
1-185953356-G-T c.2846G>T p.R949I Missense 19/107 - 1
1-185953358-GTT-ATG c.2848_2850delinsATG p.V950M Missense 19/107 - 1
1-185953359-T-C c.2849T>C p.V950A Missense 19/107 - 1
1-185953362-A-G c.2852A>G p.Q951R Missense 19/107 - 5
1-185953366-T-A c.2856T>A p.L952= Synonymous 19/107 - 1
1-185953366-T-C c.2856T>C p.L952= Synonymous 19/107 - 1
1-185953366-T-G c.2856T>G p.L952= Synonymous 19/107 - 1
1-185953367-C-T c.2857C>T p.Q953* Nonsense 19/107 - 1
1-185953369-G-T c.2859G>T p.Q953H Missense 19/107 - 1
1-185953370-G-T c.2860G>T p.D954Y Missense 19/107 - 1
1-185953376-G-A c.2866G>A p.G956S Missense 19/107 - 1
1-185953377-G-A c.2867G>A p.G956D Missense 19/107 - 1
1-185953377-G-C c.2867G>C p.G956A Missense 19/107 - 2
1-185953380-A-T c.2870A>T p.E957V Missense 19/107 - 1
1-185953385-A-T c.2875A>T p.T959S Missense 19/107 - 1
1-185953388-T-G c.2878T>G p.C960G Missense 19/107 - 1
1-185953388-TG-AC c.2878_2879delinsAC p.C960T Missense 19/107 - 1
1-185953389-G-T c.2879G>T p.C960F Missense 19/107 - 1
1-185953394-G-T c.2884G>T p.A962S Missense 19/107 - 3
1-185953395-C-T c.2885C>T p.A962V Missense 19/107 - 1
1-185953402-C-T c.2892C>T p.N964= Synonymous 19/107 - 2
1-185953403-G-A c.2893G>A p.V965I Missense 19/107 - 3
1-185953417-T-A c.2907T>A p.N969K Missense 19/107 - 3
1-185953417-T-G c.2907T>G p.N969K Missense 19/107 - 2
1-185953418-A-G c.2908A>G p.N970D Missense 19/107 - 1
1-185953419-A-G c.2909A>G p.N970S Missense 19/107 - 3
1-185953426-T-A c.2916T>A p.T972= Synonymous 19/107 - 1
1-185953426-T-C c.2916T>C p.T972= Synonymous 19/107 - 1
1-185953426-T-G c.2916T>G p.T972= Synonymous 19/107 - 1
1-185953431-C-A c.2921C>A p.S974Y Missense 19/107 - 3
1-185953431-C-T c.2921C>T p.S974F Missense 19/107 - 5
1-185953433-GTG-ATC c.2923_2925delinsATC p.V975I Missense 19/107 - 1
1-185953435-G-T c.2925G>T p.V975= Synonymous 19/107 - 1
1-185953436-G-C c.2926G>C p.V976L Missense 19/107 - 3
1-185953438-T-A c.2928T>A p.V976= Synonymous 19/107 - 1
1-185953438-T-C c.2928T>C p.V976= Synonymous 19/107 - 1
1-185953438-T-G c.2928T>G p.V976= Synonymous 19/107 - 1
1-185953440-T-C c.2930T>C p.V977A Missense 19/107 - 1
1-185953447-T-G c.2935+2T>G - IntronicSNV - 19/106 1
1-185953530-T-G c.2935+85T>G - IntronicSNV - 19/106 1
1-185956566-C-T c.2938C>T p.L980= Synonymous 20/107 - 4
1-185956568-G-A c.2940G>A p.L980= Synonymous 20/107 - 4
1-185956568-G-C c.2940G>C p.L980= Synonymous 20/107 - 4
1-185956568-G-T c.2940G>T p.L980= Synonymous 20/107 - 4
1-185956569-C-T c.2941C>T p.P981S Missense 20/107 - 1
1-185956570-C-A c.2942C>A p.P981Q Missense 20/107 - 1
1-185956574-C-A c.2946C>A p.T982= Synonymous 20/107 - 1
1-185956576-T-C c.2948T>C p.I983T Missense 20/107 - 1
1-185956576-T-G c.2948T>G p.I983S Missense 20/107 - 3
1-185956579-A-G c.2951A>G p.Q984R Missense 20/107 - 1
1-185956579-A-T c.2951A>T p.Q984L Missense 20/107 - 1
1-185956582-A-G c.2954A>G p.H985R Missense 20/107 - 2
1-185956586-G-A c.2958G>A p.G986= Synonymous 20/107 - 1
1-185956587-C-A c.2959C>A p.Q987K Missense 20/107 - 2
1-185956592-G-A c.2964G>A p.Q988= Synonymous 20/107 - 2
1-185956593-A-G c.2965A>G p.I989V Missense 20/107 - 1
1-185956594-T-C c.2966T>C p.I989T Missense 20/107 - 1
1-185956603-C-T c.2975C>T p.T992I Missense 20/107 - 2
1-185956606-T-C c.2978T>C p.I993T Missense 20/107 - 1
1-185956612-G-A c.2984G>A p.G995D Missense 20/107 - 1
1-185956613-C-A c.2985C>A p.G995= Synonymous 20/107 - 1
1-185956613-C-G c.2985C>G p.G995= Synonymous 20/107 - 1
1-185956613-C-T c.2985C>T p.G995= Synonymous 20/107 - 1
1-185956617-C-G c.2989C>G p.P997A Missense 20/107 - 2
1-185956618-C-T c.2990C>T p.P997L Missense 20/107 - 7
1-185956619-A-C c.2991A>C p.P997= Synonymous 20/107 - 1
1-185956619-A-G c.2991A>G p.P997= Synonymous 20/107 - 1
1-185956619-A-T c.2991A>T p.P997= Synonymous 20/107 - 1
1-185956624-C-A c.2996C>A p.T999N Missense 20/107 - 2
1-185956626-T-A c.2998T>A p.L1000I Missense 20/107 - 1
1-185956629-C-A c.3001C>A p.P1001T Missense 20/107 - 1
1-185956629-C-T c.3001C>T p.P1001S Missense 20/107 - 1
1-185956630-C-T c.3002C>T p.P1001L Missense 20/107 - 1
1-185956639-C-G c.3011C>G p.A1004G Missense 20/107 - 1
1-185956642-G-A c.3014G>A p.S1005N Missense 20/107 - 1
1-185956642-G-C c.3014G>C p.S1005T Missense 20/107 - 1
1-185956648-A-T c.3020A>T p.N1007I Missense 20/107 - 1
1-185956650-C-T c.3022C>T p.P1008S Missense 20/107 - 3
1-185956651-C-T c.3023C>T p.P1008L Missense 20/107 - 5
1-185956652-C-CT c.3024_3025insT p.K1009* Nonsense 20/107 - 1
1-185956655-A-C c.3027A>C p.K1009N Missense 20/107 - 1
1-185956656-C-T c.3028C>T p.P1010S Missense 20/107 - 1
1-185956655-A-AC c.3029dup p.S1011Vfs*17 Frameshift 20/107 - 2
1-185956657-C-A c.3029C>A p.P1010Q Missense 20/107 - 1
1-185956657-C-T c.3029C>T p.P1010L Missense 20/107 - 1
1-185956660-C-A c.3032C>A p.S1011Y Missense 20/107 - 1
1-185956660-C-T c.3032C>T p.S1011F Missense 20/107 - 2
1-185956666-T-C c.3038T>C p.I1013T Missense 20/107 - 1
1-185956667-C-T c.3039C>T p.I1013= Synonymous 20/107 - 1
1-185956668-T-A c.3040T>A p.W1014R Missense 20/107 - 3
1-185956668-T-C c.3040T>C p.W1014R Missense 20/107 - 4
1-185956672-C-G c.3044C>G p.S1015C Missense 20/107 - 4
1-185956672-C-T c.3044C>T p.S1015F Missense 20/107 - 6
1-185956674-A-T c.3046A>T p.K1016* Nonsense 20/107 - 3
1-185956744-G-A c.3048+68G>A - IntronicSNV - 20/106 1
1-185958416-C-T c.3049-204C>T - IntronicSNV - 20/106 1
1-185958605-C-T c.3049-15C>T - IntronicSNV - 20/106 1
1-185958621-A-G c.3050A>G p.K1017R Missense 21/107 - 2
1-185958623-G-A c.3052G>A p.G1018R Missense 21/107 - 1
1-185958626-G-A c.3055G>A p.E1019K Missense 21/107 - 1
1-185958633-T-C c.3062T>C p.I1021T Missense 21/107 - 2
1-185958636-C-T c.3065C>T p.S1022L Missense 21/107 - 3
1-185958638-A-G c.3067A>G p.T1023A Missense 21/107 - 1
1-185958639-C-A c.3068C>A p.T1023N Missense 21/107 - 2
1-185958640-C-A c.3069C>A p.T1023= Synonymous 21/107 - 1
1-185958641-A-G c.3070A>G p.S1024G Missense 21/107 - 1
1-185958641-A-C c.3070A>C p.S1024R Missense 21/107 - 1
1-185958643-C-T c.3072C>T p.S1024= Synonymous 21/107 - 1
1-185958648-C-G c.3077C>G p.A1026G Missense 21/107 - 1
1-185958651-A-C c.3080A>C p.K1027T Missense 21/107 - 15
1-185958651-A-T c.3080A>T p.K1027M Missense 21/107 - 1
1-185958656-T-C c.3085T>C p.S1029P Missense 21/107 - 1
1-185958657-C-T c.3086C>T p.S1029L Missense 21/107 - 1
1-185958659-G-A c.3088G>A p.A1030T Missense 21/107 - 1
1-185958660-C-T c.3089C>T p.A1030V Missense 21/107 - 1
1-185958662-G-A c.3091G>A p.G1031R Missense 21/107 - 1
1-185958662-G-C c.3091G>C p.G1031R Missense 21/107 - 1
1-185958663-G-C c.3092G>C p.G1031A Missense 21/107 - 1
1-185958669-A-C c.3098A>C p.D1033A Missense 21/107 - 1
1-185958672-G-A c.3101G>A p.G1034D Missense 21/107 - 3
1-185958674-A-G c.3103A>G p.S1035G Missense 21/107 - 1
1-185958675-G-A c.3104G>A p.S1035N Missense 21/107 - 1
1-185958674-A-C c.3103A>C p.S1035R Missense 21/107 - 1
1-185958676-T-A c.3105T>A p.S1035R Missense 21/107 - 1
1-185958676-T-G c.3105T>G p.S1035R Missense 21/107 - 1
1-185958677-C-G c.3106C>G p.L1036V Missense 21/107 - 1
1-185958677-C-T c.3106C>T p.L1036= Synonymous 21/107 - 1
1-185958678-T-C c.3107T>C p.L1036P Missense 21/107 - 1
1-185958680-T-C c.3109T>C p.Y1037H Missense 21/107 - 1
1-185958682-T-A c.3111T>A p.Y1037* Nonsense 21/107 - 1
1-185958682-T-G c.3111T>G p.Y1037* Nonsense 21/107 - 1
1-185958684-T-C c.3113T>C p.V1038A Missense 21/107 - 1
1-185958690-C-T c.3119C>T p.S1040L Missense 21/107 - 12
1-185958692-C-A c.3121C>A p.P1041T Missense 21/107 - 3
1-185958695-G-A c.3124G>A p.G1042R Missense 21/107 - 1
1-185958695-GGA-TGT c.3124_3126delinsTGT p.G1042C Missense 21/107 - 1
1-185958696-G-C c.3125G>C p.G1042A Missense 21/107 - 2
1-185958696-G-T c.3125G>T p.G1042V Missense 21/107 - 1
1-185958699-G-A c.3128G>A p.G1043E Missense 21/107 - 1
1-185958701-G-A c.3130G>A p.E1044K Missense 21/107 - 1
1-185958703-G-A c.3132G>A p.E1044= Synonymous 21/107 - 1
1-185958706-G-A c.3135G>A p.E1045= Synonymous 21/107 - 2
1-185958709-T-C c.3138T>C p.S1046= Synonymous 21/107 - 3
1-185958710-G-A c.3139G>A p.G1047R Missense 21/107 - 1
1-185958715-G-C c.3144G>C p.E1048D Missense 21/107 - 2
1-185958717-A-G c.3146A>G p.Y1049C Missense 21/107 - 1
1-185958719-G-A c.3148G>A p.V1050I Missense 21/107 - 1
1-185958719-G-T c.3148G>T p.V1050F Missense 21/107 - 1
1-185958721-C-G c.3150C>G p.V1050= Synonymous 21/107 - 1
1-185958722-T-A c.3151T>A p.C1051S Missense 21/107 - 1
1-185958722-T-C c.3151T>C p.C1051R Missense 21/107 - 1
1-185958722-TG-GC c.3151_3152delinsGC p.C1051A Missense 21/107 - 1
1-185958723-G-A c.3152G>A p.C1051Y Missense 21/107 - 1
1-185958723-TG-T c.3152del p.C1051Sfs*16 Frameshift 21/107 - 1
1-185958724-C-T c.3153C>T p.C1051= Synonymous 21/107 - 1
1-185958726-C-A c.3155C>A p.T1052N Missense 21/107 - 2
1-185958727-T-C c.3156T>C p.T1052= Synonymous 21/107 - 1
1-185958730-C-A c.3159C>A p.A1053= Synonymous 21/107 - 1
1-185958730-C-G c.3159C>G p.A1053= Synonymous 21/107 - 2
1-185958730-C-T c.3159C>T p.A1053= Synonymous 21/107 - 1
1-185958736-T-A c.3165T>A p.N1055K Missense 21/107 - 1
1-185958736-T-G c.3165T>G p.N1055K Missense 21/107 - 1
1-185958737-A-G c.3166A>G p.T1056A Missense 21/107 - 17
1-185958739-A-C c.3168A>C p.T1056= Synonymous 21/107 - 2
1-185958739-A-G c.3168A>G p.T1056= Synonymous 21/107 - 2
1-185958739-A-T c.3168A>T p.T1056= Synonymous 21/107 - 2
1-185958741-C-G c.3170C>G p.A1057G Missense 21/107 - 1
1-185958742-C-A c.3171C>A p.A1057= Synonymous 21/107 - 1
1-185958743-G-A c.3172G>A p.G1058S Missense 21/107 - 1
1-185958744-G-A c.3173G>A p.G1058D Missense 21/107 - 1
1-185958745-C-A c.3174C>A p.G1058= Synonymous 21/107 - 2
1-185958745-C-G c.3174C>G p.G1058= Synonymous 21/107 - 2
1-185958745-C-T c.3174C>T p.G1058= Synonymous 21/107 - 2
1-185958748-C-T c.3177C>T p.Y1059= Synonymous 21/107 - 5
1-185958749-G-A c.3178G>A p.A1060T Missense 21/107 - 3
1-185958750-C-G c.3179C>G p.A1060G Missense 21/107 - 1
1-185958751-C-A c.3180C>A p.A1060= Synonymous 21/107 - 1
1-185958751-C-G c.3180C>G p.A1060= Synonymous 21/107 - 1
1-185958751-C-T c.3180C>T p.A1060= Synonymous 21/107 - 4
1-185958757-G-A c.3186G>A p.R1062= Synonymous 21/107 - 1
1-185958759-A-T c.3188A>T p.K1063I Missense 21/107 - 1
1-185958761-G-T c.3190G>T p.V1064L Missense 21/107 - 1
1-185958763-G-A c.3192G>A p.V1064= Synonymous 21/107 - 1
1-185958763-G-C c.3192G>C p.V1064= Synonymous 21/107 - 1
1-185958763-G-T c.3192G>T p.V1064= Synonymous 21/107 - 1
1-185958767-C-T c.3196C>T p.L1066= Synonymous 21/107 - 3
1-185958771-C-G c.3200C>G p.T1067R Missense 21/107 - 1
1-185958904-TA-T c.3208+125del - IntronicDeletion - 21/106 1
1-185958904-ATTTTT-A c.3208+142_3208+146del - IntronicDeletion - 21/106 1
1-185958904-ATTT-A c.3208+144_3208+146del - IntronicDeletion - 21/106 1
1-185958904-ATT-A c.3208+145_3208+146del - IntronicDeletion - 21/106 1
1-185958904-AT-A c.3208+146del - IntronicDeletion - 21/106 2
1-185959407-T-A c.3209T>A p.V1070E Missense 22/107 - 3
1-185959407-T-G c.3209T>G p.V1070G Missense 22/107 - 1
1-185959409-AG-CA c.3211_3212delinsCA p.R1071Q Missense 22/107 - 1
1-185959411-G-A c.3213G>A p.R1071= Synonymous 22/107 - 1
1-185959412-C-T c.3214C>T p.P1072S Missense 22/107 - 1
1-185959415-A-G c.3217A>G p.R1073G Missense 22/107 - 1
1-185959420-G-A c.3222G>A p.V1074= Synonymous 22/107 - 1
1-185959424-G-T c.3226G>T p.G1076* Nonsense 22/107 - 2
1-185959429-T-A c.3231T>A p.D1077E Missense 22/107 - 1
1-185959429-T-G c.3231T>G p.D1077E Missense 22/107 - 1
1-185959433-CGA-ATG c.3235_3237delinsATG p.R1079M Missense 22/107 - 2
1-185959433-C-T c.3235C>T p.R1079* Nonsense 22/107 - 1
1-185959434-G-A c.3236G>A p.R1079Q Missense 22/107 - 1
1-185959437-G-T c.3239G>T p.G1080V Missense 22/107 - 1
1-185959439-C-T c.3241C>T p.L1081= Synonymous 22/107 - 1
1-185959440-T-C c.3242T>C p.L1081P Missense 22/107 - 1
1-185959442-T-G c.3244T>G p.S1082A Missense 22/107 - 1
1-185959454-C-T c.3256C>T p.P1086S Missense 22/107 - 1
1-185959455-C-A c.3257C>A p.P1086H Missense 22/107 - 3
1-185959455-C-T c.3257C>T p.P1086L Missense 22/107 - 1
1-185959456-T-A c.3258T>A p.P1086= Synonymous 22/107 - 1
1-185959456-T-C c.3258T>C p.P1086= Synonymous 22/107 - 1
1-185959456-T-G c.3258T>G p.P1086= Synonymous 22/107 - 1
1-185959457-G-A c.3259G>A p.V1087I Missense 22/107 - 2
1-185959460-G-A c.3262G>A p.E1088K Missense 22/107 - 1
1-185959462-G-C c.3264G>C p.E1088D Missense 22/107 - 1
1-185959462-G-T c.3264G>T p.E1088D Missense 22/107 - 1
1-185959463-A-G c.3265A>G p.I1089V Missense 22/107 - 1
1-185959465-C-A c.3267C>A p.I1089= Synonymous 22/107 - 1
1-185959465-C-T c.3267C>T p.I1089= Synonymous 22/107 - 2
1-185959466-T-A c.3268T>A p.S1090T Missense 22/107 - 1
1-185959468-C-A c.3270C>A p.S1090= Synonymous 22/107 - 2
1-185959468-C-G c.3270C>G p.S1090= Synonymous 22/107 - 2
1-185959468-C-T c.3270C>T p.S1090= Synonymous 22/107 - 3
1-185959469-G-A c.3271G>A p.V1091I Missense 22/107 - 4
1-185959470-T-C c.3272T>C p.V1091A Missense 22/107 - 1
1-185959472-C-A c.3274C>A p.L1092I Missense 22/107 - 3
1-185959472-C-T c.3274C>T p.L1092F Missense 22/107 - 1
1-185959475-G-T c.3277G>T p.A1093S Missense 22/107 - 2
1-185959478-G-T c.3280G>T p.G1094W Missense 22/107 - 1
1-185959479-G-C c.3281G>C p.G1094A Missense 22/107 - 1
1-185959481-G-T c.3283G>T p.E1095* Nonsense 22/107 - 1
1-185959483-A-C c.3285A>C p.E1095D Missense 22/107 - 2
1-185959484-G-A c.3286G>A p.E1096K Missense 22/107 - 2
1-185959486-G-C c.3288G>C p.E1096D Missense 22/107 - 1
1-185959496-C-G c.3298C>G p.P1100A Missense 22/107 - 1
1-185959496-C-T c.3298C>T p.P1100S Missense 22/107 - 1
1-185959497-CA-AT c.3299_3300delinsAT p.P1100H Missense 22/107 - 1
1-185959498-A-C c.3300A>C p.P1100= Synonymous 22/107 - 1
1-185959498-A-G c.3300A>G p.P1100= Synonymous 22/107 - 3
1-185959498-A-T c.3300A>T p.P1100= Synonymous 22/107 - 1
1-185959502-G-C c.3304G>C p.E1102Q Missense 22/107 - 1
1-185959504-A-T c.3306A>T p.E1102D Missense 22/107 - 1
1-185959505-G-A c.3307G>A p.V1103M Missense 22/107 - 1
1-185959507-G-T c.3309G>T p.V1103= Synonymous 22/107 - 1
1-185959510-G-C c.3312G>C p.K1104N Missense 22/107 - 1
1-185959510-G-T c.3312G>T p.K1104N Missense 22/107 - 2
1-185959511-A-G c.3313A>G p.S1105G Missense 22/107 - 1
1-185959511-A-T c.3313A>T p.S1105C Missense 22/107 - 1
1-185959512-G-A c.3314G>A p.S1105N Missense 22/107 - 1
1-185959512-G-T c.3314G>T p.S1105I Missense 22/107 - 1
1-185959511-A-C c.3313A>C p.S1105R Missense 22/107 - 1
1-185959513-C-A c.3315C>A p.S1105R Missense 22/107 - 1
1-185959513-C-G c.3315C>G p.S1105R Missense 22/107 - 1
1-185959515-T-C c.3317T>C p.L1106S Missense 22/107 - 1
1-185959523-C-T c.3325C>T p.P1109S Missense 22/107 - 3
1-185959524-C-T c.3326C>T p.P1109L Missense 22/107 - 1
1-185959525-C-T c.3327C>T p.P1109= Synonymous 22/107 - 1
1-185959529-A-G c.3331A>G p.I1111V Missense 22/107 - 1
1-185959530-T-G c.3332T>G p.I1111S Missense 22/107 - 1
1-185959531-T-C c.3333T>C p.I1111= Synonymous 22/107 - 2
1-185959533-C-A c.3335C>A p.T1112N Missense 22/107 - 4
1-185959534-T-A c.3336T>A p.T1112= Synonymous 22/107 - 3
1-185959534-T-C c.3336T>C p.T1112= Synonymous 22/107 - 3
1-185959534-T-G c.3336T>G p.T1112= Synonymous 22/107 - 3
1-185959538-G-A c.3340G>A p.A1114T Missense 22/107 - 1
1-185959539-C-A c.3341C>A p.A1114D Missense 22/107 - 1
1-185959542-A-G c.3344A>G p.K1115R Missense 22/107 - 1
1-185959548-C-A c.3350C>A p.T1117N Missense 22/107 - 1
1-185959552-G-A c.3354G>A p.Q1118= Synonymous 22/107 - 1
1-185959552-G-C c.3354G>C p.Q1118H Missense 22/107 - 2
1-185959552-G-T c.3354G>T p.Q1118H Missense 22/107 - 3
1-185959556-A-G c.3358A>G p.I1120V Missense 22/107 - 1
1-185959556-A-T c.3358A>T p.I1120F Missense 22/107 - 2
1-185959559-T-C c.3361T>C p.S1121P Missense 22/107 - 1
1-185959560-C-T c.3362C>T p.S1121L Missense 22/107 - 1
1-185959561-A-C c.3363A>C p.S1121= Synonymous 22/107 - 1
1-185959561-A-G c.3363A>G p.S1121= Synonymous 22/107 - 1
1-185959561-A-T c.3363A>T p.S1121= Synonymous 22/107 - 1
1-185959562-C-T c.3364C>T p.P1122S Missense 22/107 - 1
1-185959563-C-A c.3365C>A p.P1122Q Missense 22/107 - 1
1-185959563-C-T c.3365C>T p.P1122L Missense 22/107 - 2
1-185959564-G-A c.3366G>A p.P1122= Synonymous 22/107 - 5
1-185959564-G-C c.3366G>C p.P1122= Synonymous 22/107 - 2
1-185959564-G-T c.3366G>T p.P1122= Synonymous 22/107 - 3
1-185959571-C-A c.3373C>A p.P1125T Missense 22/107 - 1
1-185959571-C-T c.3373C>T p.P1125S Missense 22/107 - 1
1-185959572-C-T c.3374C>T p.P1125L Missense 22/107 - 4
1-185959575-G-C c.3377G>C p.R1126T Missense 22/107 - 1
1-185959575-G-T c.3377G>T p.R1126I Missense 22/107 - 1
1-185959607-A-T c.3377+32A>T - IntronicSNV - 22/106 1
1-185960845-A-T c.3377+1270A>T - IntronicSNV - 22/106 1
1-185962317-C-T c.3381C>T p.H1127= Synonymous 23/107 - 1
1-185962318-A-C c.3382A>C p.T1128P Missense 23/107 - 1
1-185962319-C-A c.3383C>A p.T1128K Missense 23/107 - 1
1-185962323-C-A c.3387C>A p.F1129L Missense 23/107 - 1
1-185962323-C-T c.3387C>T p.F1129= Synonymous 23/107 - 1
1-185962324-C-A c.3388C>A p.L1130I Missense 23/107 - 2
1-185962324-C-T c.3388C>T p.L1130F Missense 23/107 - 3
1-185962326-C-T c.3390C>T p.L1130= Synonymous 23/107 - 2
1-185962327-C-T c.3391C>T p.P1131S Missense 23/107 - 1
1-185962328-C-A c.3392C>A p.P1131H Missense 23/107 - 1
1-185962328-C-G c.3392C>G p.P1131R Missense 23/107 - 1
1-185962328-C-T c.3392C>T p.P1131L Missense 23/107 - 4
1-185962328-CT-AA c.3392_3393delinsAA p.P1131Q Missense 23/107 - 1
1-185962331-C-T c.3395C>T p.S1132F Missense 23/107 - 1
1-185962333-G-A c.3397G>A p.G1133S Missense 23/107 - 1
1-185962335-T-G c.3399T>G p.G1133= Synonymous 23/107 - 1
1-185962337-C-A c.3401C>A p.S1134* Nonsense 23/107 - 1
1-185962337-C-T c.3401C>T p.S1134L Missense 23/107 - 1
1-185962341-G-A c.3405G>A p.M1135I Missense 23/107 - 2
1-185962341-G-C c.3405G>C p.M1135I Missense 23/107 - 2
1-185962341-G-T c.3405G>T p.M1135I Missense 23/107 - 2
1-185962344-G-A c.3408G>A p.K1136= Synonymous 23/107 - 1
1-185962345-A-G c.3409A>G p.I1137V Missense 23/107 - 1
1-185962345-A-T c.3409A>T p.I1137F Missense 23/107 - 1
1-185962348-A-C c.3412A>C p.T1138P Missense 23/107 - 1
1-185962348-A-G c.3412A>G p.T1138A Missense 23/107 - 1
1-185962350-T-A c.3414T>A p.T1138= Synonymous 23/107 - 1
1-185962350-T-C c.3414T>C p.T1138= Synonymous 23/107 - 1
1-185962350-T-G c.3414T>G p.T1138= Synonymous 23/107 - 1
1-185962351-G-C c.3415G>C p.E1139Q Missense 23/107 - 1
1-185962357-C-A c.3421C>A p.R1141S Missense 23/107 - 1
1-185962357-C-T c.3421C>T p.R1141C Missense 23/107 - 2
1-185962358-G-A c.3422G>A p.R1141H Missense 23/107 - 4
1-185962358-G-T c.3422G>T p.R1141L Missense 23/107 - 1
1-185962360-AC-GT c.3424_3425inv p.T1142V Missense 23/107 - 1
1-185962362-T-A c.3426T>A p.T1142= Synonymous 23/107 - 1
1-185962362-T-C c.3426T>C p.T1142= Synonymous 23/107 - 1
1-185962362-T-G c.3426T>G p.T1142= Synonymous 23/107 - 1
1-185962367-A-G c.3431A>G p.D1144G Missense 23/107 - 1
1-185962368-T-C c.3432T>C p.D1144= Synonymous 23/107 - 1
1-185962370-G-C c.3434G>C p.S1145T Missense 23/107 - 1
1-185962372-G-A c.3436G>A p.G1146R Missense 23/107 - 1
1-185962372-GG-AC c.3436_3437delinsAC p.G1146T Missense 23/107 - 1
1-185962373-G-A c.3437G>A p.G1146E Missense 23/107 - 2
1-185962375-A-C c.3439A>C p.M1147L Missense 23/107 - 1
1-185962378-T-C c.3442T>C p.Y1148H Missense 23/107 - 1
1-185962379-A-G c.3443A>G p.Y1148C Missense 23/107 - 1
1-185962381-C-T c.3445C>T p.L1149F Missense 23/107 - 1
1-185962383-T-G c.3447T>G p.L1149= Synonymous 23/107 - 1
1-185962384-TG-AC c.3448_3449delinsAC p.C1150T Missense 23/107 - 1
1-185962387-G-C c.3451G>C p.V1151L Missense 23/107 - 1
1-185962391-C-A c.3455C>A p.A1152D Missense 23/107 - 1
1-185962392-C-A c.3456C>A p.A1152= Synonymous 23/107 - 3
1-185962392-C-G c.3456C>G p.A1152= Synonymous 23/107 - 1
1-185962392-C-T c.3456C>T p.A1152= Synonymous 23/107 - 1
1-185962393-A-G c.3457A>G p.T1153A Missense 23/107 - 1
1-185962394-C-T c.3458C>T p.T1153I Missense 23/107 - 4
1-185962397-A-G c.3461A>G p.N1154S Missense 23/107 - 1
1-185962398-T-C c.3462T>C p.N1154= Synonymous 23/107 - 1
1-185962407-G-T c.3471G>T p.G1157= Synonymous 23/107 - 1
1-185962415-C-T c.3479C>T p.T1160I Missense 23/107 - 1
1-185962417-C-G c.3481C>G p.Q1161E Missense 23/107 - 2
1-185962417-C-T c.3481C>T p.Q1161* Nonsense 23/107 - 1
1-185962418-A-G c.3482A>G p.Q1161R Missense 23/107 - 1
1-185962419-G-A c.3483G>A p.Q1161= Synonymous 23/107 - 1
1-185962420-G-A c.3484G>A p.A1162T Missense 23/107 - 2
1-185962420-GCTGTC-TCCGTT c.3484_3489delinsTCCGTT p.A1162S Missense 23/107 - 1
1-185962423-G-A c.3487G>A p.V1163I Missense 23/107 - 1
1-185962433-A-G c.3497A>G p.N1166S Missense 23/107 - 1
1-185962440-T-C c.3504T>C p.H1168= Synonymous 23/107 - 3
1-185962446-G-C c.3505+5G>C - IntronicSNV - 23/106 1
1-185962451-G-C c.3505+10G>C - IntronicSNV - 23/106 1
1-185962498-G-A c.3505+57G>A - IntronicSNV - 23/106 1
1-185963947-T-A c.3506T>A p.V1169D Missense 24/107 - 1
1-185963949-C-T c.3508C>T p.P1170S Missense 24/107 - 3
1-185963953-C-T c.3512C>T p.P1171L Missense 24/107 - 1
1-185963957-G-A c.3516G>A p.K1172= Synonymous 24/107 - 3
1-185963957-G-C c.3516G>C p.K1172N Missense 24/107 - 2
1-185963957-G-T c.3516G>T p.K1172N Missense 24/107 - 2
1-185963959-T-C c.3518T>C p.I1173T Missense 24/107 - 1
1-185963961-C-G c.3520C>G p.Q1174E Missense 24/107 - 1
1-185963964-C-G c.3523C>G p.R1175G Missense 24/107 - 1
1-185963965-G-A c.3524G>A p.R1175H Missense 24/107 - 2
1-185963968-G-A c.3527G>A p.G1176E Missense 24/107 - 1
1-185963974-A-C c.3533A>C p.K1178T Missense 24/107 - 1
1-185963974-A-G c.3533A>G p.K1178R Missense 24/107 - 1
1-185963979-C-G c.3538C>G p.L1180V Missense 24/107 - 2
1-185963981-C-A c.3540C>A p.L1180= Synonymous 24/107 - 1
1-185963981-C-G c.3540C>G p.L1180= Synonymous 24/107 - 1
1-185963981-C-T c.3540C>T p.L1180= Synonymous 24/107 - 1
1-185963983-A-T c.3542A>T p.K1181I Missense 24/107 - 1
1-185963985-G-A c.3544G>A p.V1182I Missense 24/107 - 1
1-185963986-TC-AG c.3545_3546delinsAG p.V1182E Missense 24/107 - 1
1-185963990-A-C c.3549A>C p.Q1183H Missense 24/107 - 1
1-185963990-A-T c.3549A>T p.Q1183H Missense 24/107 - 1
1-185963991-G-T c.3550G>T p.V1184F Missense 24/107 - 4
1-185963992-T-C c.3551T>C p.V1184A Missense 24/107 - 1
1-185963999-A-C c.3558A>C p.Q1186H Missense 24/107 - 1
1-185963999-A-T c.3558A>T p.Q1186H Missense 24/107 - 1
1-185964001-AG-A c.3560del p.R1187Kfs*15 Frameshift 24/107 - 1
1-185964001-G-T c.3560G>T p.R1187I Missense 24/107 - 1
1-185964002-A-C c.3561A>C p.R1187S Missense 24/107 - 2
1-185964002-A-T c.3561A>T p.R1187S Missense 24/107 - 3
1-185964003-G-C c.3562G>C p.V1188L Missense 24/107 - 2
1-185964003-G-T c.3562G>T p.V1188L Missense 24/107 - 2
1-185964006-G-A c.3565G>A p.D1189N Missense 24/107 - 2
1-185964008-T-C c.3567T>C p.D1189= Synonymous 24/107 - 1
1-185964010-T-C c.3569T>C p.I1190T Missense 24/107 - 3
1-185964011-T-A c.3570T>A p.I1190= Synonymous 24/107 - 1
1-185964011-T-C c.3570T>C p.I1190= Synonymous 24/107 - 1
1-185964013-C-T c.3572C>T p.P1191L Missense 24/107 - 8
1-185964014-A-G c.3573A>G p.P1191= Synonymous 24/107 - 1
1-185964021-G-A c.3580G>A p.A1194T Missense 24/107 - 2
1-185964022-CT-AG c.3581_3582inv p.A1194E Missense 24/107 - 1
1-185964026-A-G c.3585A>G p.Q1195= Synonymous 24/107 - 1
1-185964027-G-A c.3586G>A p.G1196R Missense 24/107 - 2
1-185964027-G-C c.3586G>C p.G1196R Missense 24/107 - 2
1-185964027-GG-AA c.3586_3587delinsAA p.G1196K Missense 24/107 - 1
1-185964028-G-A c.3587G>A p.G1196E Missense 24/107 - 2
1-185964032-T-C c.3591T>C p.T1197= Synonymous 24/107 - 1
1-185964038-T-A c.3597T>A p.L1199= Synonymous 24/107 - 1
1-185964038-T-C c.3597T>C p.L1199= Synonymous 24/107 - 2
1-185964038-T-G c.3597T>G p.L1199= Synonymous 24/107 - 1
1-185964039-C-A c.3598C>A p.P1200T Missense 24/107 - 8
1-185964039-CC-TT c.3598_3599delinsTT p.P1200F Missense 24/107 - 2
1-185964039-C-T c.3598C>T p.P1200S Missense 24/107 - 3
1-185964045-A-G c.3604A>G p.I1202V Missense 24/107 - 1
1-185964046-T-C c.3605T>C p.I1202T Missense 24/107 - 1
1-185964048-A-T c.3607A>T p.T1203S Missense 24/107 - 1
1-185964049-CC-TG c.3608_3609delinsTG p.T1203M Missense 24/107 - 2
1-185964050-C-A c.3609C>A p.T1203= Synonymous 24/107 - 1
1-185964050-C-G c.3609C>G p.T1203= Synonymous 24/107 - 1
1-185964050-C-T c.3609C>T p.T1203= Synonymous 24/107 - 1
1-185964056-C-T c.3615C>T p.S1205= Synonymous 24/107 - 3
1-185964056-C-CA c.3618dup p.G1207Rfs*8 Frameshift 24/107 - 1
1-185964060-G-A c.3619G>A p.G1207S Missense 24/107 - 1
1-185964060-G-T c.3619G>T p.G1207C Missense 24/107 - 3
1-185964063-G-C c.3622G>C p.G1208R Missense 24/107 - 1
1-185964064-G-T c.3623G>T p.G1208V Missense 24/107 - 2
1-185964066-A-C c.3625A>C p.S1209R Missense 24/107 - 1
1-185964075-C-A c.3634C>A p.L1212M Missense 24/107 - 1
1-185964075-C-G c.3634C>G p.L1212V Missense 24/107 - 1
1-185964081-G-A c.3640G>A p.D1214N Missense 24/107 - 1
1-185964081-G-T c.3640G>T p.D1214Y Missense 24/107 - 2
1-185964085-G-T c.3644G>T p.G1215V Missense 24/107 - 2
1-185964090-C-T c.3649C>T p.H1217Y Missense 24/107 - 3
1-185964096-G-T c.3655G>T p.V1219F Missense 24/107 - 1
1-185964096-GTT-ATG c.3655_3657delinsATG p.V1219M Missense 24/107 - 1
1-185964099-AG-TT c.3658_3659delinsTT p.S1220F Missense 24/107 - 1
1-185964105-C-T c.3664C>T p.P1222S Missense 24/107 - 1
1-185964112-G-A c.3671G>A p.G1224E Missense 24/107 - 2
1-185964112-G-T c.3671G>T p.G1224V Missense 24/107 - 1
1-185964119-A-C c.3678A>C p.L1226F Missense 24/107 - 1
1-185964119-A-T c.3678A>T p.L1226F Missense 24/107 - 1
1-185964120-A-G c.3679A>G p.S1227G Missense 24/107 - 2
1-185964120-AG-CT c.3679_3680inv p.S1227L Missense 24/107 - 1
1-185964121-G-A c.3680G>A p.S1227N Missense 24/107 - 1
1-185964122-C-T c.3681C>T p.S1227= Synonymous 24/107 - 1
1-185964126-G-A c.3685G>A p.D1229N Missense 24/107 - 2
1-185964129-C-A c.3688C>A p.Q1230K Missense 24/107 - 2
1-185964132-G-A c.3691G>A p.A1231T Missense 24/107 - 1
1-185964135-A-T c.3694A>T p.T1232S Missense 24/107 - 1
1-185964136-C-T c.3695C>T p.T1232M Missense 24/107 - 9
1-185964137-G-A c.3696G>A p.T1232= Synonymous 24/107 - 3
1-185964137-G-C c.3696G>C p.T1232= Synonymous 24/107 - 2
1-185964137-G-T c.3696G>T p.T1232= Synonymous 24/107 - 2
1-185964138-C-T c.3697C>T p.P1233S Missense 24/107 - 1
1-185964142-C-T c.3701C>T p.S1234L Missense 24/107 - 2
1-185964143-A-C c.3702A>C p.S1234= Synonymous 24/107 - 2
1-185964143-A-G c.3702A>G p.S1234= Synonymous 24/107 - 2
1-185964143-A-T c.3702A>T p.S1234= Synonymous 24/107 - 2
1-185964144-G-A c.3703G>A p.D1235N Missense 24/107 - 5
1-185964146-T-C c.3705T>C p.D1235= Synonymous 24/107 - 1
1-185964147-G-A c.3706G>A p.A1236T Missense 24/107 - 1
1-185964150-G-A c.3709G>A p.G1237S Missense 24/107 - 1
1-185964152-C-A c.3711C>A p.G1237= Synonymous 24/107 - 1
1-185964152-C-G c.3711C>G p.G1237= Synonymous 24/107 - 1
1-185964152-C-T c.3711C>T p.G1237= Synonymous 24/107 - 1
1-185964155-A-T c.3714A>T p.I1238= Synonymous 24/107 - 1
1-185964155-TA-T c.3714del p.Y1239Ifs*8 Frameshift 24/107 - 1
1-185964157-A-G c.3716A>G p.Y1239C Missense 24/107 - 1
1-185964159-A-T c.3718A>T p.T1240S Missense 24/107 - 1
1-185964160-C-T c.3719C>T p.T1240I Missense 24/107 - 1
1-185964162-T-C c.3721T>C p.C1241R Missense 24/107 - 2
1-185964168-G-T c.3727G>T p.A1243S Missense 24/107 - 3
1-185964172-C-T c.3731C>T p.T1244I Missense 24/107 - 3
1-185964177-A-G c.3736A>G p.I1246V Missense 24/107 - 1
1-185964179-A-G c.3738A>G p.I1246M Missense 24/107 - 1
1-185964180-G-A c.3739G>A p.A1247T Missense 24/107 - 1
1-185964181-C-A c.3740C>A p.A1247E Missense 24/107 - 1
1-185964181-C-G c.3740C>G p.A1247G Missense 24/107 - 1
1-185964181-C-T c.3740C>T p.A1247V Missense 24/107 - 1
1-185964182-A-G c.3741A>G p.A1247= Synonymous 24/107 - 1
1-185964187-C-T c.3746C>T p.T1249I Missense 24/107 - 2
1-185964189-G-A c.3748G>A p.D1250N Missense 24/107 - 1
1-185964192-G-A c.3751G>A p.E1251K Missense 24/107 - 1
1-185964194-A-C c.3753A>C p.E1251D Missense 24/107 - 3
1-185964194-A-T c.3753A>T p.E1251D Missense 24/107 - 1
1-185964198-G-A c.3757G>A p.E1253K Missense 24/107 - 2
1-185964199-A-G c.3758A>G p.E1253G Missense 24/107 - 1
1-185964201-A-G c.3760A>G p.I1254V Missense 24/107 - 1
1-185964202-T-G c.3761T>G p.I1254R Missense 24/107 - 1
1-185964204-A-G c.3763A>G p.T1255A Missense 24/107 - 1
1-185964205-C-T c.3764C>T p.T1255M Missense 24/107 - 6
1-185964206-G-A c.3765G>A p.T1255= Synonymous 24/107 - 5
1-185964206-G-C c.3765G>C p.T1255= Synonymous 24/107 - 2
1-185964206-G-T c.3765G>T p.T1255= Synonymous 24/107 - 3
1-185964210-C-T c.3769C>T p.H1257Y Missense 24/107 - 1
1-185964216-C-T c.3775C>T p.Q1259* Nonsense 24/107 - 4
1-185964219-G-A c.3778G>A p.E1260K Missense 24/107 - 1
1-185966566-C-T c.3784C>T p.P1262S Missense 25/107 - 1
1-185966572-G-C c.3790G>C p.V1264L Missense 25/107 - 2
1-185966572-G-T c.3790G>T p.V1264L Missense 25/107 - 2
1-185966574-G-A c.3792G>A p.V1264= Synonymous 25/107 - 1
1-185966574-G-C c.3792G>C p.V1264= Synonymous 25/107 - 1
1-185966574-G-T c.3792G>T p.V1264= Synonymous 25/107 - 1
1-185966575-G-T c.3793G>T p.E1265* Nonsense 25/107 - 1
1-185966578-G-C c.3796G>C p.D1266H Missense 25/107 - 1
1-185966581-C-G c.3799C>G p.L1267V Missense 25/107 - 1
1-185966581-C-T c.3799C>T p.L1267= Synonymous 25/107 - 2
1-185966583-A-C c.3801A>C p.L1267= Synonymous 25/107 - 2
1-185966583-A-G c.3801A>G p.L1267= Synonymous 25/107 - 2
1-185966583-A-T c.3801A>T p.L1267= Synonymous 25/107 - 2
1-185966585-A-G c.3803A>G p.E1268G Missense 25/107 - 1
1-185966590-C-G c.3808C>G p.P1270A Missense 25/107 - 1
1-185966602-A-T c.3820A>T p.T1274S Missense 25/107 - 1
1-185966603-C-G c.3821C>G p.T1274S Missense 25/107 - 1
1-185966608-C-T c.3826C>T p.Q1276* Nonsense 25/107 - 2
1-185966610-A-C c.3828A>C p.Q1276H Missense 25/107 - 2
1-185966610-A-T c.3828A>T p.Q1276H Missense 25/107 - 2
1-185966611-G-A c.3829G>A p.E1277K Missense 25/107 - 1
1-185966614-AG-CA c.3832_3833delinsCA p.R1278Q Missense 25/107 - 1
1-185966614-A-T c.3832A>T p.R1278* Nonsense 25/107 - 2
1-185966615-G-A c.3833G>A p.R1278K Missense 25/107 - 1
1-185966615-G-T c.3833G>T p.R1278I Missense 25/107 - 2
1-185966614-A-C c.3832A>C p.R1278= Synonymous 25/107 - 1
1-185966616-A-G c.3834A>G p.R1278= Synonymous 25/107 - 2
1-185966627-A-G c.3845A>G p.Q1282R Missense 25/107 - 1
1-185966628-A-C c.3846A>C p.Q1282H Missense 25/107 - 1
1-185966628-A-T c.3846A>T p.Q1282H Missense 25/107 - 1
1-185966629-C-T c.3847C>T p.R1283C Missense 25/107 - 4
1-185966630-G-A c.3848G>A p.R1283H Missense 25/107 - 1
1-185966633-T-C c.3851T>C p.I1284T Missense 25/107 - 1
1-185966636-A-G c.3854A>G p.E1285G Missense 25/107 - 1
1-185966638-T-A c.3856T>A p.F1286I Missense 25/107 - 1
1-185966641-C-A c.3859C>A p.P1287T Missense 25/107 - 1
1-185966641-C-G c.3859C>G p.P1287A Missense 25/107 - 1
1-185966642-C-A c.3860C>A p.P1287Q Missense 25/107 - 2
1-185966642-C-T c.3860C>T p.P1287L Missense 25/107 - 3
1-185966647-C-T c.3865C>T p.P1289S Missense 25/107 - 2
1-185966648-C-A c.3866C>A p.P1289H Missense 25/107 - 1
1-185966650-G-A c.3868G>A p.A1290T Missense 25/107 - 1
1-185966656-G-T c.3874G>T p.G1292C Missense 25/107 - 1
1-185969182-C-A c.3880C>A p.P1294T Missense 26/107 - 1
1-185969183-C-T c.3881C>T p.P1294L Missense 26/107 - 1
1-185969188-C-T c.3886C>T p.P1296S Missense 26/107 - 1
1-185969189-C-T c.3887C>T p.P1296L Missense 26/107 - 1
1-185969195-T-G c.3893T>G p.I1298S Missense 26/107 - 1
1-185969198-A-G c.3896A>G p.K1299R Missense 26/107 - 1
1-185969201-G-A c.3899G>A p.W1300* Nonsense 26/107 - 1
1-185969202-G-T c.3900G>T p.W1300C Missense 26/107 - 1
1-185969206-C-A c.3904C>A p.H1302N Missense 26/107 - 1
1-185969206-C-T c.3904C>T p.H1302Y Missense 26/107 - 1
1-185969207-A-G c.3905A>G p.H1302R Missense 26/107 - 2
1-185969213-G-A c.3911G>A p.G1304D Missense 26/107 - 2
1-185969213-G-C c.3911G>C p.G1304A Missense 26/107 - 1
1-185969215-A-G c.3913A>G p.R1305G Missense 26/107 - 1
1-185969218-G-T c.3916G>T p.E1306* Nonsense 26/107 - 1
1-185969224-A-G c.3922A>G p.T1308A Missense 26/107 - 1
1-185969227-G-A c.3925G>A p.G1309S Missense 26/107 - 1
1-185969227-G-T c.3925G>T p.G1309C Missense 26/107 - 1
1-185969228-G-A c.3926G>A p.G1309D Missense 26/107 - 1
1-185969231-G-A c.3929G>A p.R1310K Missense 26/107 - 6
1-185969236-C-T c.3934C>T p.P1312S Missense 26/107 - 2
1-185969240-G-A c.3938G>A p.G1313D Missense 26/107 - 1
1-185969240-G-C c.3938G>C p.G1313A Missense 26/107 - 1
1-185969241-C-A c.3939C>A p.G1313= Synonymous 26/107 - 3
1-185969241-C-G c.3939C>G p.G1313= Synonymous 26/107 - 3
1-185969241-C-T c.3939C>T p.G1313= Synonymous 26/107 - 4
1-185969242-A-C c.3940A>C p.I1314L Missense 26/107 - 1
1-185969249-T-G c.3947T>G p.I1316S Missense 26/107 - 1
1-185969256-A-G c.3954A>G p.E1318= Synonymous 26/107 - 1
1-185969257-G-T c.3955G>T p.D1319Y Missense 26/107 - 2
1-185969261-G-A c.3959G>A p.G1320D Missense 26/107 - 4
1-185969263-A-G c.3961A>G p.T1321A Missense 26/107 - 2
1-185969268-GCTGGTTATTGCTTCTGTTACA-G c.3968_3988del p.L1323_T1329del InFrameDeletion 26/107 - 1
1-185969270-T-G c.3968T>G p.L1323R Missense 26/107 - 1
1-185969269-C-T c.3967C>T p.L1323= Synonymous 26/107 - 1
1-185969271-G-A c.3969G>A p.L1323= Synonymous 26/107 - 1
1-185969271-G-C c.3969G>C p.L1323= Synonymous 26/107 - 1
1-185969271-G-T c.3969G>T p.L1323= Synonymous 26/107 - 1
1-185969272-GTT-ATG c.3970_3972delinsATG p.V1324M Missense 26/107 - 1
1-185969279-C-T c.3977C>T p.A1326V Missense 26/107 - 1
1-185969282-C-T c.3980C>T p.S1327F Missense 26/107 - 2
1-185969282-CT-AA c.3980_3981delinsAA p.S1327* Nonsense 26/107 - 1
1-185969284-GTTACACCCTATGACAA-G c.3984_3999del p.T1329Gfs*27 Frameshift 26/107 - 1
1-185969288-C-T c.3986C>T p.T1329I Missense 26/107 - 4
1-185969294-A-G c.3992A>G p.Y1331C Missense 26/107 - 3
1-185969297-A-T c.3995A>T p.D1332V Missense 26/107 - 1
1-185969298-C-A c.3996C>A p.D1332E Missense 26/107 - 1
1-185969305-G-A c.4003G>A p.E1335K Missense 26/107 - 1
1-185969305-G-C c.4003G>C p.E1335Q Missense 26/107 - 4
1-185969307-G-C c.4005G>C p.E1335D Missense 26/107 - 2
1-185969307-G-T c.4005G>T p.E1335D Missense 26/107 - 2
1-185969308-T-C c.4006T>C p.Y1336H Missense 26/107 - 1
1-185969311-A-T c.4009A>T p.I1337F Missense 26/107 - 4
1-185969312-T-C c.4010T>C p.I1337T Missense 26/107 - 1
1-185969315-G-A c.4013G>A p.C1338Y Missense 26/107 - 2
1-185969318-GT-G c.4016del p.V1339Gfs*22 Frameshift 26/107 - 2
1-185969318-T-C c.4016T>C p.V1339A Missense 26/107 - 1
1-185969321-C-G c.4019C>G p.A1340G Missense 26/107 - 2
1-185969321-C-T c.4019C>T p.A1340V Missense 26/107 - 1
1-185969324-T-A c.4022T>A p.V1341D Missense 26/107 - 1
1-185969325-C-A c.4023C>A p.V1341= Synonymous 26/107 - 3
1-185969325-C-G c.4023C>G p.V1341= Synonymous 26/107 - 3
1-185969325-C-T c.4023C>T p.V1341= Synonymous 26/107 - 3
1-185969329-G-T c.4027G>T p.E1343* Nonsense 26/107 - 1
1-185969330-A-G c.4028A>G p.E1343G Missense 26/107 - 1
1-185969333-C-T c.4031C>T p.A1344V Missense 26/107 - 1
1-185969338-AC-TG c.4036_4037delinsTG p.T1346C Missense 26/107 - 1
1-185969339-C-A c.4037C>A p.T1346N Missense 26/107 - 3
1-185969341-A-G c.4039A>G p.T1347A Missense 26/107 - 1
1-185969347-AG-CA c.4045_4046delinsCA p.R1349Q Missense 26/107 - 1
1-185969350-A-T c.4048A>T p.K1350* Nonsense 26/107 - 1
1-185969354-A-G c.4052A>G p.Y1351C Missense 26/107 - 1
1-185969359-C-A c.4057C>A p.L1353I Missense 26/107 - 1
1-185969359-C-T c.4057C>T p.L1353F Missense 26/107 - 1
1-185969364-A-C c.4062A>C p.K1354N Missense 26/107 - 2
1-185969364-A-T c.4062A>T p.K1354N Missense 26/107 - 1
1-185969369-A-G c.4067A>G p.H1356R Missense 26/107 - 1
1-185969374-A-G c.4069+3A>G - IntronicSNV - 26/106 1
1-185969699-G-A c.4069+328G>A - IntronicSNV - 26/106 1
1-185970433-C-A c.4073C>A p.P1358H Missense 27/107 - 1
1-185970433-C-T c.4073C>T p.P1358L Missense 27/107 - 1
1-185970436-C-T c.4076C>T p.P1359L Missense 27/107 - 1
1-185970437-A-G c.4077A>G p.P1359= Synonymous 27/107 - 2
1-185970447-G-T c.4087G>T p.D1363Y Missense 27/107 - 1
1-185970463-C-G c.4103C>G p.T1368R Missense 27/107 - 1
1-185970465-A-C c.4105A>C p.N1369H Missense 27/107 - 1
1-185970466-A-T c.4106A>T p.N1369I Missense 27/107 - 1
1-185970467-T-A c.4107T>A p.N1369K Missense 27/107 - 1
1-185970467-T-G c.4107T>G p.N1369K Missense 27/107 - 1
1-185970468-G-A c.4108G>A p.V1370M Missense 27/107 - 2
1-185970471-T-C c.4111T>C p.S1371P Missense 27/107 - 3
1-185970472-C-T c.4112C>T p.S1371L Missense 27/107 - 3
1-185970473-G-A c.4113G>A p.S1371= Synonymous 27/107 - 1
1-185970478-T-C c.4118T>C p.L1373S Missense 27/107 - 1
1-185970478-T-G c.4118T>G p.L1373W Missense 27/107 - 1
1-185970484-A-C c.4124A>C p.N1375T Missense 27/107 - 1
1-185970489-C-G c.4129C>G p.L1377V Missense 27/107 - 3
1-185970492-AC-TG c.4132_4133delinsTG p.T1378C Missense 27/107 - 1
1-185970495-A-C c.4135A>C p.N1379H Missense 27/107 - 1
1-185970496-A-G c.4136A>G p.N1379S Missense 27/107 - 1
1-185970498-C-G c.4138C>G p.L1380V Missense 27/107 - 1
1-185970498-C-T c.4138C>T p.L1380F Missense 27/107 - 1
1-185970502-T-C c.4142T>C p.F1381S Missense 27/107 - 1
1-185970505-G-T c.4145G>T p.C1382F Missense 27/107 - 1
1-185970513-G-A c.4153G>A p.E1385K Missense 27/107 - 2
1-185970514-A-G c.4154A>G p.E1385G Missense 27/107 - 1
1-185970521-TC-T c.4163del p.P1388Hfs*14 Frameshift 27/107 - 1
1-185970523-C-T c.4163C>T p.P1388L Missense 27/107 - 3
1-185970529-C-T c.4169C>T p.P1390L Missense 27/107 - 4
1-185970530-C-A c.4170C>A p.P1390= Synonymous 27/107 - 1
1-185970530-C-G c.4170C>G p.P1390= Synonymous 27/107 - 1
1-185970530-C-T c.4170C>T p.P1390= Synonymous 27/107 - 4
1-185970543-TATAAAG-T c.4188_4193del p.K1396_D1397del InFrameDeletion 27/107 - 2
1-185970548-A-T c.4188A>T p.K1396N Missense 27/107 - 1
1-185970549-G-A c.4189G>A p.D1397N Missense 27/107 - 1
1-185970549-G-T c.4189G>T p.D1397Y Missense 27/107 - 3
1-185970550-A-G c.4190A>G p.D1397G Missense 27/107 - 1
1-185970550-A-T c.4190A>T p.D1397V Missense 27/107 - 1
1-185970555-G-C c.4195G>C p.V1399L Missense 27/107 - 1
1-185970558-C-A c.4198C>A p.Q1400K Missense 27/107 - 1
1-185970729-A-T c.4204A>T p.T1402S Missense 28/107 - 1
1-185970730-C-G c.4205C>G p.T1402S Missense 28/107 - 1
1-185970732-G-A c.4207G>A p.E1403K Missense 28/107 - 1
1-185970732-G-T c.4207G>T p.E1403* Nonsense 28/107 - 1
1-185970733-A-T c.4208A>T p.E1403V Missense 28/107 - 1
1-185970734-A-C c.4209A>C p.E1403D Missense 28/107 - 1
1-185970734-A-T c.4209A>T p.E1403D Missense 28/107 - 1
1-185970741-A-T c.4216A>T p.T1406S Missense 28/107 - 1
1-185970742-C-A c.4217C>A p.T1406N Missense 28/107 - 1
1-185970742-C-G c.4217C>G p.T1406S Missense 28/107 - 1
1-185970746-T-C c.4221T>C p.I1407= Synonymous 28/107 - 1
1-185970747-C-T c.4222C>T p.Q1408* Nonsense 28/107 - 1
1-185970748-A-C c.4223A>C p.Q1408P Missense 28/107 - 1
1-185970748-A-T c.4223A>T p.Q1408L Missense 28/107 - 2
1-185970756-A-G c.4231A>G p.N1411D Missense 28/107 - 2
1-185970757-A-G c.4232A>G p.N1411S Missense 28/107 - 1
1-185970760-A-G c.4235A>G p.N1412S Missense 28/107 - 2
1-185970763-G-A c.4238G>A p.G1413E Missense 28/107 - 1
1-185970764-G-A c.4239G>A p.G1413= Synonymous 28/107 - 1
1-185970771-C-T c.4246C>T p.L1416= Synonymous 28/107 - 2
1-185970773-G-A c.4248G>A p.L1416= Synonymous 28/107 - 3
1-185970773-G-C c.4248G>C p.L1416= Synonymous 28/107 - 2
1-185970773-G-T c.4248G>T p.L1416= Synonymous 28/107 - 2
1-185970776-G-C c.4251G>C p.K1417N Missense 28/107 - 2
1-185970776-G-T c.4251G>T p.K1417N Missense 28/107 - 1
1-185970777-C-A c.4252C>A p.L1418I Missense 28/107 - 5
1-185970777-C-T c.4252C>T p.L1418F Missense 28/107 - 2
1-185970779-C-A c.4254C>A p.L1418= Synonymous 28/107 - 3
1-185970779-C-G c.4254C>G p.L1418= Synonymous 28/107 - 2
1-185970779-C-T c.4254C>T p.L1418= Synonymous 28/107 - 2
1-185970780-T-C c.4255T>C p.F1419L Missense 28/107 - 2
1-185970782-C-A c.4257C>A p.F1419L Missense 28/107 - 1
1-185970782-C-G c.4257C>G p.F1419L Missense 28/107 - 1
1-185970782-C-T c.4257C>T p.F1419= Synonymous 28/107 - 1
1-185970784-G-C c.4259G>C p.R1420T Missense 28/107 - 1
1-185970792-C-G c.4267C>G p.P1423A Missense 28/107 - 1
1-185970793-C-A c.4268C>A p.P1423Q Missense 28/107 - 1
1-185970793-C-G c.4268C>G p.P1423R Missense 28/107 - 1
1-185970802-C-G c.4277C>G p.A1426G Missense 28/107 - 1
1-185970802-C-T c.4277C>T p.A1426V Missense 28/107 - 1
1-185970804-GG-AC c.4279_4280delinsAC p.G1427T Missense 28/107 - 1
1-185970818-C-A c.4293C>A p.C1431* Nonsense 28/107 - 1
1-185970820-A-C c.4295A>C p.K1432T Missense 28/107 - 1
1-185970820-A-G c.4295A>G p.K1432R Missense 28/107 - 1
1-185970837-GG-AC c.4312_4313delinsAC p.G1438T Missense 28/107 - 1
1-185970838-G-C c.4313G>C p.G1438A Missense 28/107 - 2
1-185970839-C-T c.4314C>T p.G1438= Synonymous 28/107 - 1
1-185970840-AC-TG c.4315_4316delinsTG p.T1439C Missense 28/107 - 1
1-185970840-A-T c.4315A>T p.T1439S Missense 28/107 - 4
1-185970841-C-G c.4316C>G p.T1439S Missense 28/107 - 2
1-185970845-T-A c.4320T>A p.S1440= Synonymous 28/107 - 1
1-185970846-C-G c.4321C>G p.Q1441E Missense 28/107 - 1
1-185970846-C-T c.4321C>T p.Q1441* Nonsense 28/107 - 1
1-185970848-G-A c.4323G>A p.Q1441= Synonymous 28/107 - 1
1-185970853-A-C c.4328A>C p.Y1443S Missense 28/107 - 1
1-185970854-C-T c.4329C>T p.Y1443= Synonymous 28/107 - 2
1-185970857-T-C c.4332T>C p.F1444= Synonymous 28/107 - 1
1-185970860-C-T c.4335C>T p.N1445= Synonymous 28/107 - 2
1-185970862-T-A c.4337T>A p.I1446N Missense 28/107 - 3
1-185970869-G-A c.4344G>A p.V1448= Synonymous 28/107 - 3
1-185970869-G-C c.4344G>C p.V1448= Synonymous 28/107 - 3
1-185970869-G-T c.4344G>T p.V1448= Synonymous 28/107 - 4
1-185970869-TG-T c.4344del p.L1449* Frameshift 28/107 - 1
1-185970870-C-T c.4345C>T p.L1449= Synonymous 28/107 - 1
1-185970870-C-CTAGTTCCACCCACCATAA c.4348_4348+1insTTCCACCCACCATAATAG p.V1450_I1455dup InFrameInsertion - - 1
1-185970893-A-T c.4348+20A>T - IntronicSNV - 28/106 2
1-185971255-G-A c.4348+382G>A - IntronicSNV - 28/106 1
1-185971926-C-A c.4349-924C>A - IntronicSNV - 28/106 1
1-185972852-C-G c.4351C>G p.P1451A Missense 29/107 - 2
1-185972852-C-T c.4351C>T p.P1451S Missense 29/107 - 1
1-185972856-C-T c.4355C>T p.P1452L Missense 29/107 - 2
1-185972865-T-C c.4364T>C p.I1455T Missense 29/107 - 1
1-185972866-A-C c.4365A>C p.I1455= Synonymous 29/107 - 2
1-185972866-A-T c.4365A>T p.I1455= Synonymous 29/107 - 2
1-185972867-G-A c.4366G>A p.G1456S Missense 29/107 - 1
1-185972870-A-G c.4369A>G p.T1457A Missense 29/107 - 3
1-185972871-C-A c.4370C>A p.T1457N Missense 29/107 - 1
1-185972872-C-T c.4371C>T p.T1457= Synonymous 29/107 - 1
1-185972874-A-G c.4373A>G p.N1458S Missense 29/107 - 2
1-185972878-C-T c.4377C>T p.F1459= Synonymous 29/107 - 1
1-185972882-A-C c.4381A>C p.N1461H Missense 29/107 - 1
1-185972883-A-G c.4382A>G p.N1461S Missense 29/107 - 2
1-185972885-G-T c.4384G>T p.E1462* Nonsense 29/107 - 1
1-185972889-T-A c.4388T>A p.V1463D Missense 29/107 - 1
1-185972895-T-G c.4394T>G p.V1465G Missense 29/107 - 3
1-185972896-T-C c.4395T>C p.V1465= Synonymous 29/107 - 1
1-185972897-G-C c.4396G>C p.V1466L Missense 29/107 - 1
1-185972900-C-A c.4399C>A p.L1467I Missense 29/107 - 1
1-185972904-A-G c.4403A>G p.N1468S Missense 29/107 - 1
1-185972906-C-G c.4405C>G p.R1469G Missense 29/107 - 1
1-185972906-C-T c.4405C>T p.R1469C Missense 29/107 - 2
1-185972907-G-A c.4406G>A p.R1469H Missense 29/107 - 1
1-185972909-G-A c.4408G>A p.D1470N Missense 29/107 - 1
1-185972911-C-A c.4410C>A p.D1470E Missense 29/107 - 1
1-185972911-C-T c.4410C>T p.D1470= Synonymous 29/107 - 2
1-185972912-G-A c.4411G>A p.V1471I Missense 29/107 - 2
1-185972915-G-A c.4414G>A p.A1472T Missense 29/107 - 4
1-185972920-T-A c.4419T>A p.L1473= Synonymous 29/107 - 1
1-185972920-T-C c.4419T>C p.L1473= Synonymous 29/107 - 1
1-185972920-T-G c.4419T>G p.L1473= Synonymous 29/107 - 1
1-185972921-G-C c.4420G>C p.E1474Q Missense 29/107 - 1
1-185972921-G-T c.4420G>T p.E1474* Nonsense 29/107 - 1
1-185972923-A-G c.4422A>G p.E1474= Synonymous 29/107 - 1
1-185972925-G-T c.4424G>T p.C1475F Missense 29/107 - 1
1-185972926-C-A c.4425C>A p.C1475* Nonsense 29/107 - 1
1-185972926-C-T c.4425C>T p.C1475= Synonymous 29/107 - 1
1-185972930-G-A c.4429G>A p.V1477I Missense 29/107 - 1
1-185972932-C-G c.4431C>G p.V1477= Synonymous 29/107 - 1
1-185972937-G-A c.4436G>A p.G1479D Missense 29/107 - 1
1-185972937-G-T c.4436G>T p.G1479V Missense 29/107 - 4
1-185972940-C-T c.4439C>T p.T1480I Missense 29/107 - 1
1-185972944-C-T c.4443C>T p.P1481= Synonymous 29/107 - 1
1-185972948-C-T c.4447C>T p.P1483S Missense 29/107 - 5
1-185972949-C-T c.4448C>T p.P1483L Missense 29/107 - 2
1-185972953-T-A c.4452T>A p.D1484E Missense 29/107 - 1
1-185972953-T-G c.4452T>G p.D1484E Missense 29/107 - 1
1-185972958-A-G c.4457A>G p.H1486R Missense 29/107 - 1
1-185972959-T-C c.4458T>C p.H1486= Synonymous 29/107 - 1
1-185972961-G-T c.4460G>T p.W1487L Missense 29/107 - 1
1-185972962-G-A c.4461G>A p.W1487* Nonsense 29/107 - 1
1-185972962-G-C c.4461G>C p.W1487C Missense 29/107 - 3
1-185972962-G-T c.4461G>T p.W1487C Missense 29/107 - 2
1-185972969-G-A c.4468G>A p.D1490N Missense 29/107 - 5
1-185972969-G-T c.4468G>T p.D1490Y Missense 29/107 - 1
1-185972972-G-A c.4471G>A p.G1491S Missense 29/107 - 1
1-185972973-G-A c.4472G>A p.G1491D Missense 29/107 - 2
1-185972975-A-T c.4474A>T p.K1492* Nonsense 29/107 - 4
1-185972976-A-G c.4475A>G p.K1492R Missense 29/107 - 2
1-185972977-G-T c.4475+1G>T - IntronicSNV - 29/106 1
1-185972985-C-A c.4475+9C>A - IntronicSNV - 29/106 1
1-185973038-C-T c.4475+62C>T - IntronicSNV - 29/106 1
1-185976244-G-A c.4476-16G>A - IntronicSNV - 29/106 1
1-185976244-G-C c.4476-16G>C - IntronicSNV - 29/106 1
1-185976261-C-T c.4477C>T p.P1493S Missense 30/107 - 1
1-185976265-T-C c.4481T>C p.L1494S Missense 30/107 - 1
1-185976270-T-C c.4486T>C p.L1496= Synonymous 30/107 - 3
1-185976272-G-A c.4488G>A p.L1496= Synonymous 30/107 - 3
1-185976272-G-C c.4488G>C p.L1496F Missense 30/107 - 1
1-185976272-G-T c.4488G>T p.L1496F Missense 30/107 - 1
1-185976275-C-A c.4491C>A p.G1497= Synonymous 30/107 - 2
1-185976275-C-G c.4491C>G p.G1497= Synonymous 30/107 - 2
1-185976275-C-T c.4491C>T p.G1497= Synonymous 30/107 - 6
1-185976276-G-A c.4492G>A p.D1498N Missense 30/107 - 3
1-185976279-C-T c.4495C>T p.P1499S Missense 30/107 - 1
1-185976283-A-G c.4499A>G p.N1500S Missense 30/107 - 1
1-185976288-G-A c.4504G>A p.E1502K Missense 30/107 - 1
1-185976290-A-G c.4506A>G p.E1502= Synonymous 30/107 - 3
1-185976293-T-C c.4509T>C p.L1503= Synonymous 30/107 - 1
1-185976295-T-C c.4511T>C p.L1504P Missense 30/107 - 1
1-185976297-G-C c.4513G>C p.D1505H Missense 30/107 - 2
1-185976299-C-G c.4515C>G p.D1505E Missense 30/107 - 4
1-185976300-AGA-TGG c.4516_4518delinsTGG p.R1506W Missense 30/107 - 1
1-185976303-G-A c.4519G>A p.G1507R Missense 30/107 - 1
1-185976303-G-C c.4519G>C p.G1507R Missense 30/107 - 1
1-185976309-G-A c.4525G>A p.V1509I Missense 30/107 - 1
1-185976323-G-A c.4539G>A p.K1513= Synonymous 30/107 - 2
1-185976328-C-G c.4544C>G p.A1515G Missense 30/107 - 1
1-185976331-G-A c.4547G>A p.R1516Q Missense 30/107 - 3
1-185976332-G-A c.4548G>A p.R1516= Synonymous 30/107 - 2
1-185976334-G-T c.4550G>T p.R1517I Missense 30/107 - 7
1-185976346-G-T c.4562G>T p.G1521V Missense 30/107 - 2
1-185976347-G-A c.4563G>A p.G1521= Synonymous 30/107 - 3
1-185976347-G-C c.4563G>C p.G1521= Synonymous 30/107 - 1
1-185976347-G-T c.4563G>T p.G1521= Synonymous 30/107 - 1
1-185976348-C-T c.4564C>T p.R1522C Missense 30/107 - 5
1-185976349-G-A c.4565G>A p.R1522H Missense 30/107 - 4
1-185976350-C-A c.4566C>A p.R1522= Synonymous 30/107 - 1
1-185976350-C-G c.4566C>G p.R1522= Synonymous 30/107 - 1
1-185976350-C-T c.4566C>T p.R1522= Synonymous 30/107 - 2
1-185976353-C-T c.4569C>T p.Y1523= Synonymous 30/107 - 1
1-185976355-A-G c.4571A>G p.Q1524R Missense 30/107 - 1
1-185976361-C-T c.4577C>T p.T1526I Missense 30/107 - 1
1-185976363-G-C c.4579G>C p.V1527L Missense 30/107 - 1
1-185976363-G-T c.4579G>T p.V1527L Missense 30/107 - 1
1-185976366-T-C c.4582T>C p.S1528P Missense 30/107 - 1
1-185976369-A-G c.4585A>G p.N1529D Missense 30/107 - 1
1-185976370-A-G c.4586A>G p.N1529S Missense 30/107 - 13
1-185976370-A-T c.4586A>T p.N1529I Missense 30/107 - 1
1-185976375-G-C c.4591G>C p.A1531P Missense 30/107 - 1
1-185976378-G-A c.4594G>A p.G1532S Missense 30/107 - 1
1-185976384-C-A c.4600C>A p.Q1534K Missense 30/107 - 1
1-185976385-A-C c.4601A>C p.Q1534P Missense 30/107 - 1
1-185976387-G-T c.4603G>T p.A1535S Missense 30/107 - 1
1-185976393-G-A c.4609G>A p.D1537N Missense 30/107 - 1
1-185976395-T-A c.4611T>A p.D1537E Missense 30/107 - 1
1-185976396-ATA-TTT c.4612_4614delinsTTT p.I1538F Missense 30/107 - 1
1-185976402-C-A c.4618C>A p.L1540M Missense 30/107 - 1
1-185976402-C-T c.4618C>T p.L1540= Synonymous 30/107 - 1
1-185976404-G-A c.4620G>A p.L1540= Synonymous 30/107 - 1
1-185976404-G-C c.4620G>C p.L1540= Synonymous 30/107 - 1
1-185976404-G-T c.4620G>T p.L1540= Synonymous 30/107 - 1
1-185976412-A-G c.4628A>G p.Y1543C Missense 30/107 - 1
1-185976412-A-ATATTCCACC c.4630_4630+1insTTCCACCTA p.I1544_P1546dup SpliceDonorInsertion - - 1
1-185976422-C-T c.4630+8C>T - IntronicSNV - 30/106 1
1-185984302-A-G c.4642A>G p.I1548V Missense 31/107 - 1
1-185984306-A-G c.4646A>G p.K1549R Missense 31/107 - 1
1-185984309-G-C c.4649G>C p.G1550A Missense 31/107 - 1
1-185984312-G-A c.4652G>A p.G1551E Missense 31/107 - 4
1-185984313-A-C c.4653A>C p.G1551= Synonymous 31/107 - 3
1-185984313-A-G c.4653A>G p.G1551= Synonymous 31/107 - 3
1-185984313-A-T c.4653A>T p.G1551= Synonymous 31/107 - 4
1-185984320-A-G c.4660A>G p.T1554A Missense 31/107 - 1
1-185984321-C-A c.4661C>A p.T1554N Missense 31/107 - 3
1-185984323-A-G c.4663A>G p.T1555A Missense 31/107 - 2
1-185984335-GTA-ATG c.4675_4677delinsATG p.V1559M Missense 31/107 - 1
1-185984346-C-T c.4686C>T p.N1562= Synonymous 31/107 - 1
1-185984347-A-T c.4687A>T p.S1563C Missense 31/107 - 1
1-185984348-G-C c.4688G>C p.S1563T Missense 31/107 - 4
1-185984355-T-G c.4695T>G p.I1565M Missense 31/107 - 1
1-185984361-G-T c.4701G>T p.L1567= Synonymous 31/107 - 1
1-185984362-G-A c.4702G>A p.E1568K Missense 31/107 - 3
1-185984364-A-C c.4704A>C p.E1568D Missense 31/107 - 3
1-185984364-A-T c.4704A>T p.E1568D Missense 31/107 - 4
1-185984365-TG-AC c.4705_4706delinsAC p.C1569T Missense 31/107 - 1
1-185984368-G-A c.4708G>A p.E1570K Missense 31/107 - 3
1-185984368-G-T c.4708G>T p.E1570* Nonsense 31/107 - 1
1-185984369-A-T c.4709A>T p.E1570V Missense 31/107 - 1
1-185984370-A-C c.4710A>C p.E1570D Missense 31/107 - 1
1-185984375-G-A c.4715G>A p.R1572Q Missense 31/107 - 2
1-185984378-G-A c.4718G>A p.G1573E Missense 31/107 - 3
1-185984383-C-A c.4723C>A p.P1575T Missense 31/107 - 1
1-185984393-C-A c.4733C>A p.A1578D Missense 31/107 - 2
1-185984393-C-T c.4733C>T p.A1578V Missense 31/107 - 1
1-185984398-A-G c.4738A>G p.T1580A Missense 31/107 - 1
1-185984399-C-A c.4739C>A p.T1580N Missense 31/107 - 1
1-185984399-C-T c.4739C>T p.T1580I Missense 31/107 - 3
1-185984402-G-A c.4742G>A p.W1581* Nonsense 31/107 - 1
1-185984402-G-T c.4742G>T p.W1581L Missense 31/107 - 1
1-185984409-G-A c.4749G>A p.K1583= Synonymous 31/107 - 1
1-185984413-G-A c.4753G>A p.G1585R Missense 31/107 - 2
1-185984413-G-C c.4753G>C p.G1585R Missense 31/107 - 1
1-185984414-G-C c.4754G>C p.G1585A Missense 31/107 - 1
1-185984414-G-T c.4754G>T p.G1585V Missense 31/107 - 1
1-185984415-G-A c.4755G>A p.G1585= Synonymous 31/107 - 1
1-185984415-G-C c.4755G>C p.G1585= Synonymous 31/107 - 1
1-185984415-G-T c.4755G>T p.G1585= Synonymous 31/107 - 1
1-185984416-C-A c.4756C>A p.Q1586K Missense 31/107 - 3
1-185984416-C-T c.4756C>T p.Q1586* Nonsense 31/107 - 1
1-185984418-G-C c.4758G>C p.Q1586H Missense 31/107 - 4
1-185984418-G-T c.4758G>T p.Q1586H Missense 31/107 - 3
1-185984419-C-T c.4759C>T p.P1587S Missense 31/107 - 1
1-185984422-A-G c.4762A>G p.I1588V Missense 31/107 - 1
1-185984424-C-A c.4764C>A p.I1588= Synonymous 31/107 - 1
1-185984424-C-T c.4764C>T p.I1588= Synonymous 31/107 - 1
1-185984428-T-C c.4768T>C p.S1590P Missense 31/107 - 1
1-185984439-A-G c.4779A>G p.Q1593= Synonymous 31/107 - 1
1-185984440-G-A c.4780G>A p.A1594T Missense 31/107 - 1
1-185984441-C-G c.4781C>G p.A1594G Missense 31/107 - 1
1-185984452-G-A c.4792G>A p.D1598N Missense 31/107 - 2
1-185984458-G-A c.4798G>A p.G1600R Missense 31/107 - 1
1-185984459-G-A c.4799G>A p.G1600E Missense 31/107 - 2
1-185984461-C-T c.4801C>T p.Q1601* Nonsense 31/107 - 1
1-185984463-A-G c.4803A>G p.Q1601= Synonymous 31/107 - 1
1-185984465-A-T c.4805A>T p.Y1602F Missense 31/107 - 1
1-185984467-C-A c.4807C>A p.L1603I Missense 31/107 - 2
1-185984470-C-T c.4810C>T p.H1604Y Missense 31/107 - 1
1-185984476-C-A c.4816C>A p.P1606T Missense 31/107 - 1
1-185984477-C-T c.4817C>T p.P1606L Missense 31/107 - 1
1-185984479-C-G c.4819C>G p.R1607G Missense 31/107 - 3
1-185984479-C-T c.4819C>T p.R1607* Nonsense 31/107 - 3
1-185984480-G-A c.4820G>A p.R1607Q Missense 31/107 - 3
1-185984480-G-C c.4820G>C p.R1607P Missense 31/107 - 1
1-185984488-G-A c.4828G>A p.V1610I Missense 31/107 - 1
1-185984490-C-A c.4830C>A p.V1610= Synonymous 31/107 - 1
1-185984490-C-G c.4830C>G p.V1610= Synonymous 31/107 - 1
1-185984490-C-T c.4830C>T p.V1610= Synonymous 31/107 - 2
1-185984492-C-T c.4832C>T p.S1611F Missense 31/107 - 1
1-185984498-C-T c.4838C>T p.S1613L Missense 31/107 - 1
1-185984500-G-C c.4840G>C p.A1614P Missense 31/107 - 5
1-185984506-T-C c.4846T>C p.Y1616H Missense 31/107 - 1
1-185984507-A-G c.4847A>G p.Y1616C Missense 31/107 - 3
1-185984509-A-T c.4849A>T p.T1617S Missense 31/107 - 1
1-185984510-C-G c.4850C>G p.T1617R Missense 31/107 - 1
1-185984510-C-T c.4850C>T p.T1617M Missense 31/107 - 3
1-185984511-G-A c.4851G>A p.T1617= Synonymous 31/107 - 2
1-185984511-G-C c.4851G>C p.T1617= Synonymous 31/107 - 1
1-185984511-G-T c.4851G>T p.T1617= Synonymous 31/107 - 1
1-185984512-TG-AC c.4852_4853delinsAC p.C1618T Missense 31/107 - 1
1-185984514-T-G c.4854T>G p.C1618W Missense 31/107 - 1
1-185984515-C-T c.4855C>T p.H1619Y Missense 31/107 - 1
1-185984516-A-T c.4856A>T p.H1619L Missense 31/107 - 1
1-185984517-T-C c.4857T>C p.H1619= Synonymous 31/107 - 21
1-185984521-G-T c.4861G>T p.A1621S Missense 31/107 - 1
1-185984522-C-T c.4862C>T p.A1621V Missense 31/107 - 2
1-185984525-A-C c.4865A>C p.N1622T Missense 31/107 - 1
1-185984525-A-G c.4865A>G p.N1622S Missense 31/107 - 4
1-185984526-T-A c.4866T>A p.N1622K Missense 31/107 - 3
1-185984530-G-A c.4870G>A p.A1624T Missense 31/107 - 5
1-185984530-G-T c.4870G>T p.A1624S Missense 31/107 - 1
1-185984531-C-G c.4871C>G p.A1624G Missense 31/107 - 1
1-185984531-C-T c.4871C>T p.A1624V Missense 31/107 - 1
1-185984539-G-T c.4879G>T p.A1627S Missense 31/107 - 1
1-185984540-C-CT c.4881dup p.E1628* Nonsense 31/107 - 1
1-185984542-G-A c.4882G>A p.E1628K Missense 31/107 - 4
1-185984542-G-T c.4882G>T p.E1628* Nonsense 31/107 - 1
1-185984549-C-T c.4889C>T p.S1630L Missense 31/107 - 1
1-185984554-C-T c.4894C>T p.H1632Y Missense 31/107 - 1
1-185984556-T-C c.4896T>C p.H1632= Synonymous 31/107 - 1
1-185984562-T-A c.4902T>A p.D1634E Missense 31/107 - 2
1-185984562-T-G c.4902T>G p.D1634E Missense 31/107 - 3
1-185984563-G-A c.4903G>A p.V1635I Missense 31/107 - 1
1-185984569-G-C c.4909G>C p.V1637L Missense 31/107 - 8
1-185984570-G-T c.4909+1G>T - IntronicSNV - 31/106 1
1-185985092-C-T c.4912C>T p.P1638S Missense 32/107 - 1
1-185985093-C-T c.4913C>T p.P1638L Missense 32/107 - 1
1-185985095-C-G c.4915C>G p.P1639A Missense 32/107 - 4
1-185985096-C-T c.4916C>T p.P1639L Missense 32/107 - 3
1-185985098-A-G c.4918A>G p.M1640V Missense 32/107 - 3
1-185985100-G-A c.4920G>A p.M1640I Missense 32/107 - 1
1-185985107-G-C c.4927G>C p.G1643R Missense 32/107 - 1
1-185985107-G-T c.4927G>T p.G1643C Missense 32/107 - 6
1-185985108-G-A c.4928G>A p.G1643D Missense 32/107 - 2
1-185985108-G-C c.4928G>C p.G1643A Missense 32/107 - 1
1-185985113-T-C c.4933T>C p.L1645= Synonymous 32/107 - 4
1-185985114-T-G c.4934T>G p.L1645W Missense 32/107 - 1
1-185985116-G-A c.4936G>A p.A1646T Missense 32/107 - 2
1-185985117-C-T c.4937C>T p.A1646V Missense 32/107 - 3
1-185985120-CG-TC c.4940_4941delinsTC p.T1647I Missense 32/107 - 1
1-185985120-C-T c.4940C>T p.T1647M Missense 32/107 - 6
1-185985121-G-A c.4941G>A p.T1647= Synonymous 32/107 - 1
1-185985121-G-C c.4941G>C p.T1647= Synonymous 32/107 - 1
1-185985121-G-T c.4941G>T p.T1647= Synonymous 32/107 - 1
1-185985122-C-T c.4942C>T p.P1648S Missense 32/107 - 1
1-185985127-G-A c.4947G>A p.L1649= Synonymous 32/107 - 1
1-185985135-A-G c.4955A>G p.Q1652R Missense 32/107 - 1
1-185985137-G-A c.4957G>A p.V1653I Missense 32/107 - 1
1-185985140-G-A c.4960G>A p.V1654I Missense 32/107 - 2
1-185985141-T-A c.4961T>A p.V1654D Missense 32/107 - 1
1-185985146-G-C c.4966G>C p.A1656P Missense 32/107 - 2
1-185985147-C-T c.4967C>T p.A1656V Missense 32/107 - 1
1-185985148-T-A c.4968T>A p.A1656= Synonymous 32/107 - 1
1-185985148-T-C c.4968T>C p.A1656= Synonymous 32/107 - 1
1-185985148-T-G c.4968T>G p.A1656= Synonymous 32/107 - 1
1-185985155-C-T c.4975C>T p.L1659= Synonymous 32/107 - 1
1-185985157-G-A c.4977G>A p.L1659= Synonymous 32/107 - 1
1-185985157-G-C c.4977G>C p.L1659= Synonymous 32/107 - 1
1-185985157-G-T c.4977G>T p.L1659= Synonymous