SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4

Annotation transcript: NM_001387283.1

2554 unique variant annotations were identified in 675 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
19-11072610-G-A c.-32+760G>A - intron_variant - 1/34 7
19-11072610-G-C c.-32+760G>C - intron_variant - 1/34 7
19-11072610-G-T c.-32+760G>T - intron_variant - 1/34 7
19-11085543-T-C c.-31-9254T>C - IntronicSNV - 1/34 1
19-11071810-C-T c.-72C>T - IntronicSNV 1/35 - 1
19-11094839-A-T c.12A>T p.P4= Synonymous 2/35 - 1
19-11094839-A-G c.12A>G p.P4= Synonymous 2/35 - 1
19-11094839-A-C c.12A>C p.P4= Synonymous 2/35 - 1
19-11094840-G-T c.13G>T p.D5Y Missense 2/35 - 1
19-11094855-G-A c.28G>A p.G10R Missense 2/35 - 1
19-11094855-G-C c.28G>C p.G10R Missense 2/35 - 1
19-11094856-G-A c.29G>A p.G10E Missense 2/35 - 1
19-11094856-G-T c.29G>T p.G10V Missense 2/35 - 1
19-11094861-C-G c.34C>G p.P12A Missense 2/35 - 1
19-11094861-CC-TT c.34_35delinsTT p.P12F Missense 2/35 - 1
19-11094861-C-T c.34C>T p.P12S Missense 2/35 - 1
19-11094864-C-T c.37C>T p.R13W Missense 2/35 - 1
19-11094865-G-C c.38G>C p.R13P Missense 2/35 - 1
19-11094865-G-A c.38G>A p.R13Q Missense 2/35 - 1
19-11094867-C-G c.40C>G p.P14A Missense 2/35 - 1
19-11094873-C-T c.46C>T p.P16S Missense 2/35 - 1
19-11094874-C-T c.47C>T p.P16L Missense 2/35 - 1
19-11094875-T-G c.48T>G p.P16= Synonymous 2/35 - 1
19-11094875-T-A c.48T>A p.P16= Synonymous 2/35 - 1
19-11094875-T-C c.48T>C p.P16= Synonymous 2/35 - 1
19-11094876-TC-GA c.49_50inv p.S17D Missense 2/35 - 1
19-11094876-TC-AA c.49_50delinsAA p.S17N Missense 2/35 - 1
19-11094877-C-G c.50C>G p.S17C Missense 2/35 - 1
19-11094877-C-T c.50C>T p.S17F Missense 2/35 - 2
19-11094879-C-T c.52C>T p.P18S Missense 2/35 - 2
19-11094880-C-T c.53C>T p.P18L Missense 2/35 - 1
19-11094882-G-A c.55G>A p.G19S Missense 2/35 - 1
19-11094885-C-A c.58C>A p.P20T Missense 2/35 - 1
19-11094889-G-A c.62G>A p.G21D Missense 2/35 - 1
19-11094891-C-T c.64C>T p.P22S Missense 2/35 - 1
19-11094891-CC-TT c.64_65delinsTT p.P22F Missense 2/35 - 1
19-11094892-C-A c.65C>A p.P22H Missense 2/35 - 1
19-11094894-T-G c.67T>G p.S23A Missense 2/35 - 4
19-11094895-C-T c.68C>T p.S23F Missense 2/35 - 1
19-11094897-C-T c.70C>T p.P24S Missense 2/35 - 1
19-11094897-CC-TT c.70_71delinsTT p.P24F Missense 2/35 - 1
19-11094901-G-A c.74G>A p.G25E Missense 2/35 - 1
19-11094903-GCC-TGG c.76_78delinsTGG p.A26W Missense 2/35 - 1
19-11094908-G-C c.81G>C p.M27I Missense 2/35 - 1
19-11094908-G-A c.81G>A p.M27I Missense 2/35 - 1
19-11094908-G-T c.81G>T p.M27I Missense 2/35 - 1
19-11094910-T-C c.83T>C p.L28P Missense 2/35 - 1
19-11094915-C-T c.88C>T p.P30S Missense 2/35 - 1
19-11094918-AG-GC c.91_92delinsGC p.S31A Missense 2/35 - 1
19-11094922-C-T c.95C>T p.P32L Missense 2/35 - 1
19-11094927-C-T c.100C>T p.P34S Missense 2/35 - 2
19-11094928-C-T c.101C>T p.P34L Missense 2/35 - 2
19-11094931-C-T c.104C>T p.S35L Missense 2/35 - 1
19-11094933-C-A c.106C>A p.P36T Missense 2/35 - 1
19-11094933-C-T c.106C>T p.P36S Missense 2/35 - 1
19-11094936-G-A c.109G>A p.G37S Missense 2/35 - 1
19-11094937-G-A c.110G>A p.G37D Missense 2/35 - 1
19-11094939-T-G c.112T>G p.S38A Missense 2/35 - 1
19-11094940-C-T c.113C>T p.S38F Missense 2/35 - 1
19-11094943-C-T c.116C>T p.A39V Missense 2/35 - 1
19-11094945-CA-GC c.118_119delinsGC p.H40A Missense 2/35 - 1
19-11094945-C-T c.118C>T p.H40Y Missense 2/35 - 1
19-11094951-A-C c.124A>C p.M42L Missense 2/35 - 1
19-11094951-A-T c.124A>T p.M42L Missense 2/35 - 1
19-11094952-T-C c.125T>C p.M42T Missense 2/35 - 1
19-11094958-G-C c.131G>C p.G44A Missense 2/35 - 1
19-11094960-C-T c.133C>T p.P45S Missense 2/35 - 1
19-11094963-AG-TT c.136_137delinsTT p.S46F Missense 2/35 - 1
19-11094964-G-T c.137G>T p.S46I Missense 2/35 - 1
19-11094972-C-T c.145C>T p.P49S Missense 2/35 - 1
19-11094976-C-T c.149C>T p.P50L Missense 2/35 - 1
19-11094979-C-A c.152C>A p.S51* Nonsense 2/35 - 1
19-11094979-C-G c.152C>G p.S51* Nonsense 2/35 - 1
19-11094979-C-T c.152C>T p.S51L Missense 2/35 - 1
19-11094982-CA-AC c.155_156delinsAC p.A52D Missense 2/35 - 1
19-11094984-G-T c.157G>T p.G53* Nonsense 2/35 - 2
19-11094985-GA-AC c.158_159delinsAC p.G53D Missense 2/35 - 1
19-11094985-G-A c.158G>A p.G53E Missense 2/35 - 1
19-11094985-G-T c.158G>T p.G53V Missense 2/35 - 1
19-11094990-C-T c.163C>T p.P55S Missense 2/35 - 1
19-11094991-C-T c.164C>T p.P55L Missense 2/35 - 1
19-11094995-C-G c.168C>G p.I56M Missense 2/35 - 1
19-11094995-C-A c.168C>A p.I56= Synonymous 2/35 - 1
19-11094995-C-T c.168C>T p.I56= Synonymous 2/35 - 1
19-11094996-C-T c.169C>T p.P57S Missense 2/35 - 2
19-11094996-CC-TT c.169_170delinsTT p.P57F Missense 2/35 - 1
19-11094997-C-T c.170C>T p.P57L Missense 2/35 - 1
19-11094999-A-G c.172A>G p.T58A Missense 2/35 - 3
19-11095002-C-T c.175C>T p.Q59* Nonsense 2/35 - 3
19-11095005-G-A c.178G>A p.G60R Missense 2/35 - 1
19-11095005-G-C c.178G>C p.G60R Missense 2/35 - 1
19-11095006-G-A c.179G>A p.G60E Missense 2/35 - 1
19-11095014-G-T c.187G>T p.G63W Missense 2/35 - 1
19-11095014-G-A c.187G>A p.G63R Missense 2/35 - 1
19-11095014-G-C c.187G>C p.G63R Missense 2/35 - 1
19-11095015-G-A c.188G>A p.G63E Missense 2/35 - 1
19-11095017-T-A c.190T>A p.Y64N Missense 2/35 - 1
19-11095017-T-C c.190T>C p.Y64H Missense 2/35 - 1
19-11095020-C-T c.193C>T p.P65S Missense 2/35 - 1
19-11095021-C-T c.194C>T p.P65L Missense 2/35 - 1
19-11095023-C-T c.196C>T p.Q66* Nonsense 2/35 - 3
19-11095023-C-G c.196C>G p.Q66E Missense 2/35 - 1
19-11095026-G-A c.199G>A p.D67N Missense 2/35 - 1
19-11095034-G-C c.207G>C p.M69I Missense 2/35 - 1
19-11095034-G-A c.207G>A p.M69I Missense 2/35 - 1
19-11095034-G-T c.207G>T p.M69I Missense 2/35 - 1
19-11095038-C-T c.211C>T p.Q71* Nonsense 2/35 - 2
19-11095046-C-T c.219C>T p.H73= Synonymous 2/35 - 1
19-11095048-A-G c.221A>G p.K74R Missense 2/35 - 1
19-11095049-G-C c.222G>C p.K74N Missense 2/35 - 1
19-11095049-G-T c.222G>T p.K74N Missense 2/35 - 1
19-11095950-C-T c.224C>T p.P75L Missense 3/35 - 1
19-11095955-G-T c.229G>T p.E77* Nonsense 3/35 - 1
19-11095956-A-C c.230A>C p.E77A Missense 3/35 - 1
19-11095958-T-C c.232T>C p.S78P Missense 3/35 - 1
19-11095958-T-A c.232T>A p.S78T Missense 3/35 - 1
19-11095959-C-G c.233C>G p.S78C Missense 3/35 - 1
19-11095959-CCATG-ACC c.233_237delinsACC p.S78Yfs*3 Frameshift 3/35 - 1
19-11095959-C-T c.233C>T p.S78F Missense 3/35 - 1
19-11095961-A-G c.235A>G p.M79V Missense 3/35 - 1
19-11095961-A-C c.235A>C p.M79L Missense 3/35 - 1
19-11095961-A-T c.235A>T p.M79L Missense 3/35 - 1
19-11095967-G-T c.241G>T p.E81* Nonsense 3/35 - 1
19-11095967-G-A c.241G>A p.E81K Missense 3/35 - 1
19-11095969-G-C c.243G>C p.E81D Missense 3/35 - 1
19-11095969-G-T c.243G>T p.E81D Missense 3/35 - 1
19-11095973-G-A c.247G>A p.G83S Missense 3/35 - 1
19-11095976-A-C c.250A>C p.M84L Missense 3/35 - 1
19-11095977-T-C c.251T>C p.M84T Missense 3/35 - 1
19-11095980-C-T c.254C>T p.S85L Missense 3/35 - 1
19-11095985-G-A c.259G>A p.D87N Missense 3/35 - 1
19-11095986-A-C c.260A>C p.D87A Missense 3/35 - 1
19-11095989-C-T c.263C>T p.P88L Missense 3/35 - 1
19-11095991-C-T c.265C>T p.R89C Missense 3/35 - 1
19-11095992-GC-AA c.266_267delinsAA p.R89Q Missense 3/35 - 1
19-11095992-G-A c.266G>A p.R89H Missense 3/35 - 1
19-11095995-A-G c.269A>G p.Y90C Missense 3/35 - 1
19-11096002-G-C c.276G>C p.Q92H Missense 3/35 - 2
19-11096003-A-G c.277A>G p.M93V Missense 3/35 - 2
19-11096009-G-A c.283G>A p.G95R Missense 3/35 - 1
19-11096009-G-C c.283G>C p.G95R Missense 3/35 - 1
19-11096009-G-T c.283G>T p.G95* Nonsense 3/35 - 1
19-11096015-G-A c.289G>A p.G97R Missense 3/35 - 1
19-11096015-G-C c.289G>C p.G97R Missense 3/35 - 1
19-11096016-G-C c.290G>C p.G97A Missense 3/35 - 1
19-11096019-T-C c.293T>C p.M98T Missense 3/35 - 1
19-11096021-C-T c.295C>T p.R99W Missense 3/35 - 4
19-11096024-T-G c.298T>G p.S100A Missense 3/35 - 7
19-11096024-T-C c.298T>C p.S100P Missense 3/35 - 3
19-11096025-C-T c.299C>T p.S100L Missense 3/35 - 1
19-11096026-CAG-C c.300_301del p.G102Pfs*26 Frameshift 3/35 - 1
19-11096028-G-T c.302G>T p.G101V Missense 3/35 - 1
19-11096028-G-A c.302G>A p.G101E Missense 3/35 - 1
19-11096034-A-G c.308A>G p.H103R Missense 3/35 - 1
19-11096035-TG-GT c.309_310delinsGT p.H103_A104delinsQS MultiAAMissense 3/35 - 1
19-11096034-ATGC-A c.311_313del p.A104del InFrameDeletion 3/35 - 1
19-11096039-G-A c.313G>A p.G105R Missense 3/35 - 1
19-11096039-G-C c.313G>C p.G105R Missense 3/35 - 1
19-11096042-A-G c.316A>G p.M106V Missense 3/35 - 1
19-11096043-T-G c.317T>G p.M106R Missense 3/35 - 1
19-11096048-C-T c.322C>T p.P108S Missense 3/35 - 1
19-11096049-C-T c.323C>T p.P108L Missense 3/35 - 1
19-11096051-C-T c.325C>T p.P109S Missense 3/35 - 2
19-11096052-C-T c.326C>T p.P109L Missense 3/35 - 6
19-11096047-GC-G c.326del p.P109Rfs*194 Frameshift 3/35 - 1
19-11096054-C-G c.328C>G p.P110A Missense 3/35 - 2
19-11096058-G-A c.332G>A p.S111N Missense 3/35 - 1
19-11096061-C-T c.335C>T p.P112L Missense 3/35 - 1
19-11096064-T-C c.338T>C p.M113T Missense 3/35 - 1
19-11096065-G-T c.339G>T p.M113I Missense 3/35 - 1
19-11096072-C-T c.346C>T p.H116Y Missense 3/35 - 1
19-11096076-C-T c.350C>T p.S117F Missense 3/35 - 1
19-11096078-C-T c.352C>T p.Q118* Nonsense 3/35 - 2
19-11096865-G-A c.356G>A p.G119D Missense 4/35 - 1
19-11096865-G-T c.356G>T p.G119V Missense 4/35 - 1
19-11096869-C-A c.360C>A p.Y120* Nonsense 4/35 - 2
19-11096869-C-G c.360C>G p.Y120* Nonsense 4/35 - 2
19-11096870-C-T c.361C>T p.P121S Missense 4/35 - 1
19-11096874-C-T c.365C>T p.S122L Missense 4/35 - 1
19-11096877-C-T c.368C>T p.P123L Missense 4/35 - 2
19-11096882-G-A c.373G>A p.G125S Missense 4/35 - 1
19-11096882-G-T c.373G>T p.G125C Missense 4/35 - 1
19-11096883-G-T c.374G>T p.G125V Missense 4/35 - 1
19-11096889-TCTGAGCA-T c.380_386del p.S127Lfs*174 Frameshift 4/35 - 1
19-11096889-C-T c.380C>T p.S127F Missense 4/35 - 2
19-11096889-C-G c.380C>G p.S127C Missense 4/35 - 1
19-11096891-G-T c.382G>T p.E128* Nonsense 4/35 - 1
19-11096892-A-G c.383A>G p.E128G Missense 4/35 - 1
19-11096897-G-T c.388G>T p.A130S Missense 4/35 - 1
19-11096901-C-T c.392C>T p.S131F Missense 4/35 - 1
19-11096901-C-G c.392C>G p.S131C Missense 4/35 - 1
19-11096906-C-T c.397C>T p.P133S Missense 4/35 - 1
19-11096912-C-G c.403C>G p.P135A Missense 4/35 - 2
19-11096912-C-T c.403C>T p.P135S Missense 4/35 - 1
19-11096913-CCA-C c.404_405del p.P135Rfs*23 Frameshift 4/35 - 1
19-11096916-C-T c.407C>T p.A136V Missense 4/35 - 1
19-11096919-G-A c.410G>A p.S137N Missense 4/35 - 1
19-11096922-G-T c.413G>T p.G138V Missense 4/35 - 1
19-11096924-C-T c.415C>T p.P139S Missense 4/35 - 1
19-11096925-C-T c.416C>T p.P139L Missense 4/35 - 1
19-11096927-TC-CT c.418_419delinsCT p.S140L Missense 4/35 - 1
19-11096927-T-C c.418T>C p.S140P Missense 4/35 - 1
19-11096927-T-G c.418T>G p.S140A Missense 4/35 - 1
19-11096928-C-T c.419C>T p.S140F Missense 4/35 - 1
19-11096928-C-A c.419C>A p.S140Y Missense 4/35 - 1
19-11096931-C-T c.422C>T p.S141L Missense 4/35 - 1
19-11096931-C-A c.422C>A p.S141* Nonsense 4/35 - 1
19-11096933-G-A c.424G>A p.G142R Missense 4/35 - 1
19-11096933-G-C c.424G>C p.G142R Missense 4/35 - 1
19-11096936-C-G c.427C>G p.P143A Missense 4/35 - 2
19-11096936-CC-TT c.427_428delinsTT p.P143F Missense 4/35 - 1
19-11096939-C-T c.430C>T p.Q144* Nonsense 4/35 - 2
19-11096944-G-C c.435G>C p.M145I Missense 4/35 - 1
19-11096944-G-A c.435G>A p.M145I Missense 4/35 - 1
19-11096944-G-T c.435G>T p.M145I Missense 4/35 - 1
19-11096946-C-T c.437C>T p.S146F Missense 4/35 - 1
19-11096949-C-T c.440C>T p.S147F Missense 4/35 - 1
19-11096951-G-A c.442G>A p.G148R Missense 4/35 - 1
19-11096958-G-A c.449G>A p.G150E Missense 4/35 - 1
19-11096961-G-A c.452G>A p.G151D Missense 4/35 - 1
19-11096963-G-A c.454G>A p.A152T Missense 4/35 - 1
19-11096964-C-T c.455C>T p.A152V Missense 4/35 - 1
19-11096966-C-T c.457C>T p.P153S Missense 4/35 - 1
19-11096967-C-T c.458C>T p.P153L Missense 4/35 - 1
19-11096968-G-A c.459G>A p.P153= Synonymous 4/35 - 1
19-11096969-C-T c.460C>T p.L154= Synonymous 4/35 - 1
19-11096972-G-C c.463G>C p.D155H Missense 4/35 - 1
19-11096976-G-A c.467G>A p.G156D Missense 4/35 - 1
19-11096984-C-T c.475C>T p.P159S Missense 4/35 - 1
19-11096987-C-T c.478C>T p.Q160* Nonsense 4/35 - 1
19-11096988-A-G c.479A>G p.Q160R Missense 4/35 - 1
19-11096991-C-T c.482C>T p.A161V Missense 4/35 - 3
19-11096999-C-T c.490C>T p.Q164* Nonsense 4/35 - 1
19-11097004-G-A c.495G>A p.Q165= Synonymous 4/35 - 1
19-11097004-G-T c.495G>T p.Q165H Missense 4/35 - 1
19-11097004-G-C c.495G>C p.Q165H Missense 4/35 - 1
19-11097008-C-T c.499C>T p.R167W Missense 4/35 - 1
19-11097009-G-A c.500G>A p.R167Q Missense 4/35 - 2
19-11097009-G-T c.500G>T p.R167L Missense 4/35 - 1
19-11097012-G-A c.503G>A p.G168D Missense 4/35 - 2
19-11097012-G-T c.503G>T p.G168V Missense 4/35 - 1
19-11097013-C-T c.504C>T p.G168= Synonymous 4/35 - 1
19-11097013-C-G c.504C>G p.G168= Synonymous 4/35 - 1
19-11097013-C-A c.504C>A p.G168= Synonymous 4/35 - 1
19-11097014-C-T c.505C>T p.P169S Missense 4/35 - 1
19-11097015-C-T c.506C>T p.P169L Missense 4/35 - 1
19-11097018-C-T c.509C>T p.T170I Missense 4/35 - 1
19-11097020-C-T c.511C>T p.P171S Missense 4/35 - 1
19-11097020-C-G c.511C>G p.P171A Missense 4/35 - 1
19-11097021-C-T c.512C>T p.P171L Missense 4/35 - 4
19-11097021-C-A c.512C>A p.P171Q Missense 4/35 - 1
19-11097020-CCATTTAACCAGAA-C c.513_525del p.F172Sfs*127 Frameshift 4/35 - 1
19-11097023-T-C c.514T>C p.F172L Missense 4/35 - 1
19-11097025-T-A c.516T>A p.F172L Missense 4/35 - 1
19-11097025-T-G c.516T>G p.F172L Missense 4/35 - 1
19-11097044-C-T c.535C>T p.Q179* Nonsense 4/35 - 1
19-11097047-C-T c.538C>T p.L180F Missense 4/35 - 2
19-11097050-AGA-CAT c.541_543delinsCAT p.R181H Missense 4/35 - 1
19-11097056-C-T c.547C>T p.Q183* Nonsense 4/35 - 2
19-11097056-C-G c.547C>G p.Q183E Missense 4/35 - 1
19-11097059-A-T c.550A>T p.I184F Missense 4/35 - 1
19-11097060-T-C c.551T>C p.I184T Missense 4/35 - 3
19-11097066-C-T c.557C>T p.A186V Missense 4/35 - 1
19-11097070-C-G c.561C>G p.Y187* Nonsense 4/35 - 1
19-11097071-A-T c.562A>T p.K188* Nonsense 4/35 - 1
19-11097084-G-A c.575G>A p.R192K Missense 4/35 - 1
19-11097092-C-T c.583C>T p.P195S Missense 4/35 - 1
19-11097093-C-T c.584C>T p.P195L Missense 4/35 - 1
19-11097091-GC-G c.586del p.L196Sfs*107 Frameshift 4/35 - 1
19-11097098-C-T c.589C>T p.P197S Missense 4/35 - 4
19-11097099-C-T c.590C>T p.P197L Missense 4/35 - 1
19-11097100-C-T c.591C>T p.P197= Synonymous 4/35 - 1
19-11097101-G-A c.592G>A p.D198N Missense 4/35 - 1
19-11097104-C-T c.595C>T p.H199Y Missense 4/35 - 1
19-11097108-T-C c.599T>C p.L200P Missense 4/35 - 1
19-11097111-A-T c.602A>T p.Q201L Missense 4/35 - 6
19-11097111-CA-C c.602del p.Q201Rfs*102 Frameshift 4/35 - 1
19-11097116-G-A c.607G>A p.A203T Missense 4/35 - 1
19-11097117-C-T c.608C>T p.A203V Missense 4/35 - 1
19-11097122-GC-G c.613del p.Q205Rfs*98 Frameshift 4/35 - 1
19-11097122-C-T c.613C>T p.Q205* Nonsense 4/35 - 2
19-11097125-G-A c.616G>A p.G206S Missense 4/35 - 1
19-11097131-C-T c.622C>T p.R208W Missense 4/35 - 1
19-11097132-G-A c.623G>A p.R208Q Missense 4/35 - 1
19-11097134-C-T c.625C>T p.P209S Missense 4/35 - 2
19-11097135-C-T c.626C>T p.P209L Missense 4/35 - 1
19-11097141-C-T c.632C>T p.P211L Missense 4/35 - 1
19-11097143-G-A c.634G>A p.G212R Missense 4/35 - 1
19-11097143-G-C c.634G>C p.G212R Missense 4/35 - 1
19-11097143-G-T c.634G>T p.G212W Missense 4/35 - 1
19-11097144-G-A c.635G>A p.G212E Missense 4/35 - 1
19-11097152-C-T c.643C>T p.Q215* Nonsense 4/35 - 2
19-11097157-G-T c.648G>T p.Q216H Missense 4/35 - 1
19-11097157-G-C c.648G>C p.Q216H Missense 4/35 - 1
19-11097161-C-T c.652C>T p.P218S Missense 4/35 - 1
19-11097162-C-T c.653C>T p.P218L Missense 4/35 - 1
19-11097165-C-T c.656C>T p.T219M Missense 4/35 - 1
19-11097166-G-A c.657G>A p.T219= Synonymous 4/35 - 1
19-11097166-G-T c.657G>T p.T219= Synonymous 4/35 - 1
19-11097166-G-C c.657G>C p.T219= Synonymous 4/35 - 1
19-11097174-C-T c.665C>T p.P222L Missense 4/35 - 2
19-11097177-C-T c.668C>T p.P223L Missense 4/35 - 1
19-11097180-C-T c.671C>T p.S224L Missense 4/35 - 1
19-11097182-G-A c.673G>A p.V225M Missense 4/35 - 1
19-11097185-T-C c.676T>C p.S226P Missense 4/35 - 1
19-11097185-T-G c.676T>G p.S226A Missense 4/35 - 1
19-11097186-C-T c.677C>T p.S226F Missense 4/35 - 1
19-11097188-G-T c.679G>T p.A227S Missense 4/35 - 1
19-11097191-A-G c.682A>G p.T228A Missense 4/35 - 1
19-11097194-G-T c.685G>T p.G229* Nonsense 4/35 - 1
19-11097197-C-T c.688C>T p.P230S Missense 4/35 - 1
19-11097198-C-T c.689C>T p.P230L Missense 4/35 - 1
19-11097200-G-A c.691G>A p.G231S Missense 4/35 - 1
19-11097204-C-T c.695C>T p.P232L Missense 4/35 - 1
19-11097209-C-T c.700C>T p.P234S Missense 4/35 - 1
19-11097215-C-T c.706C>T p.P236S Missense 4/35 - 1
19-11097216-C-G c.707C>G p.P236R Missense 4/35 - 1
19-11097199-CGGCCCT-C c.708_713del p.G243_P244del InFrameDeletion 4/35 - 1
19-11097222-C-T c.713C>T p.P238L Missense 4/35 - 1
19-11097224-G-C c.715G>C p.G239R Missense 4/35 - 1
19-11097224-G-T c.715G>T p.G239C Missense 4/35 - 1
19-11097227-C-T c.718C>T p.P240S Missense 4/35 - 1
19-11097228-C-T c.719C>T p.P240L Missense 4/35 - 1
19-11097231-GGTCCCGGCCCGGCA-G c.722_735del p.G241Afs*41 Frameshift 4/35 - 3
19-11097220-CCCCGGCCCGGGT-C c.722_733del p.G241_P244del InFrameDeletion 4/35 - 2
19-11097233-C-T c.724C>T p.P242S Missense 4/35 - 1
19-11097234-C-T c.725C>T p.P242L Missense 4/35 - 1
19-11097235-C-CG c.728dup p.A245Gfs*42 Frameshift 4/35 - 1
19-11097239-C-T c.730C>T p.P244S Missense 4/35 - 1
19-11097239-CCCG-C c.730_732del p.P244del InFrameDeletion 4/35 - 1
19-11097240-C-T c.731C>T p.P244L Missense 4/35 - 2
19-11097242-G-A c.733G>A p.A245T Missense 4/35 - 2
19-11097245-C-A c.736C>A p.P246T Missense 4/35 - 1
19-11097248-C-T c.739C>T p.P247S Missense 4/35 - 1
19-11097251-A-G c.742A>G p.N248D Missense 4/35 - 2
19-11097260-A-T c.751A>T p.R251W Missense 4/35 - 1
19-11097261-G-A c.752G>A p.R251K Missense 4/35 - 1
19-11097261-G-T c.752G>T p.R251M Missense 4/35 - 1
19-11097271-T-C c.760+2T>C - IntronicSNV - 4/34 1
19-11097581-G-A c.761G>A p.G254D Missense 5/35 - 1
19-11097584-T-C c.764T>C p.M255T Missense 5/35 - 2
19-11097585-G-C c.765G>C p.M255I Missense 5/35 - 1
19-11097585-G-A c.765G>A p.M255I Missense 5/35 - 1
19-11097585-G-T c.765G>T p.M255I Missense 5/35 - 1
19-11097586-G-T c.766G>T p.G256* Nonsense 5/35 - 2
19-11097586-G-A c.766G>A p.G256R Missense 5/35 - 1
19-11097586-G-C c.766G>C p.G256R Missense 5/35 - 1
19-11097589-G-T c.769G>T p.G257W Missense 5/35 - 1
19-11097590-G-T c.770G>T p.G257V Missense 5/35 - 1
19-11097598-A-C c.778A>C p.M260L Missense 5/35 - 1
19-11097598-A-T c.778A>T p.M260L Missense 5/35 - 1
19-11097598-A-AT c.779dup p.M260Ifs*27 Frameshift 5/35 - 1
19-11097599-T-A c.779T>A p.M260K Missense 5/35 - 1
19-11097600-G-C c.780G>C p.M260I Missense 5/35 - 1
19-11097600-G-A c.780G>A p.M260I Missense 5/35 - 1
19-11097600-G-T c.780G>T p.M260I Missense 5/35 - 1
19-11097604-C-T c.784C>T p.P262S Missense 5/35 - 1
19-11097604-C-G c.784C>G p.P262A Missense 5/35 - 1
19-11097604-C-A c.784C>A p.P262T Missense 5/35 - 1
19-11097605-C-T c.785C>T p.P262L Missense 5/35 - 2
19-11097607-C-T c.787C>T p.P263S Missense 5/35 - 1
19-11097608-C-T c.788C>T p.P263L Missense 5/35 - 1
19-11097610-G-A c.790G>A p.G264R Missense 5/35 - 1
19-11097610-G-C c.790G>C p.G264R Missense 5/35 - 1
19-11097610-G-T c.790G>T p.G264* Nonsense 5/35 - 1
19-11097613-C-T c.793C>T p.P265S Missense 5/35 - 1
19-11097614-C-G c.794C>G p.P265R Missense 5/35 - 1
19-11097614-C-T c.794C>T p.P265L Missense 5/35 - 1
19-11097617-C-T c.797C>T p.S266L Missense 5/35 - 3
19-11097619-G-A c.799G>A p.G267S Missense 5/35 - 1
19-11097625-CCC-GAG c.805_807delinsGAG p.P269E Missense 5/35 - 1
19-11097625-C-T c.805C>T p.P269S Missense 5/35 - 1
19-11097625-C-G c.805C>G p.P269A Missense 5/35 - 1
19-11097628-C-T c.808C>T p.P270S Missense 5/35 - 2
19-11097629-C-A c.809C>A p.P270H Missense 5/35 - 1
19-11097629-C-T c.809C>T p.P270L Missense 5/35 - 2
19-11097624-G-GC c.810dup p.G271Rfs*16 Frameshift 5/35 - 1
19-11097624-GC-G c.810del p.M272Cfs*31 Frameshift 5/35 - 1
19-11097631-G-A c.811G>A p.G271R Missense 5/35 - 1
19-11097631-G-C c.811G>C p.G271R Missense 5/35 - 1
19-11097632-G-A c.812G>A p.G271E Missense 5/35 - 1
19-11097643-C-A c.823C>A p.Q275K Missense 5/35 - 1
19-11097643-C-T c.823C>T p.Q275* Nonsense 5/35 - 1
19-11097645-G-T c.825G>T p.Q275H Missense 5/35 - 1
19-11097645-G-C c.825G>C p.Q275H Missense 5/35 - 1
19-11097646-C-A c.826C>A p.P276T Missense 5/35 - 1
19-11097649-C-T c.829C>T p.P277S Missense 5/35 - 2
19-11097650-C-T c.830C>T p.P277L Missense 5/35 - 2
19-11097652-G-T c.832G>T p.G278* Nonsense 5/35 - 1
19-11097653-G-T c.833G>T p.G278V Missense 5/35 - 1
19-11097659-C-T c.839C>T p.P280L Missense 5/35 - 1
19-11097661-CC-TT c.841_842delinsTT p.P281F Missense 5/35 - 1
19-11097661-C-T c.841C>T p.P281S Missense 5/35 - 1
19-11097662-C-T c.842C>T p.P281L Missense 5/35 - 1
19-11097663-C-T c.843C>T p.P281= Synonymous 5/35 - 1
19-11097663-C-G c.843C>G p.P281= Synonymous 5/35 - 1
19-11097663-C-A c.843C>A p.P281= Synonymous 5/35 - 1
19-11097664-A-T c.844A>T p.K282* Nonsense 5/35 - 1
19-11097671-G-A c.851G>A p.W284* Nonsense 5/35 - 1
19-11097672-G-A c.852G>A p.W284* Nonsense 5/35 - 1
19-11097672-G-T c.852G>T p.W284C Missense 5/35 - 1
19-11097672-G-C c.852G>C p.W284C Missense 5/35 - 1
19-11097676-G-T c.856G>T p.E286* Nonsense 5/35 - 1
19-11097679-G-T c.859G>T p.G287* Nonsense 5/35 - 1
19-11097686-T-A c.859+7T>A - IntronicSNV - 5/34 1
19-11098345-C-A c.863C>A p.P288H Missense 6/35 - 1
19-11098348-T-C c.866T>C p.M289T Missense 6/35 - 1
19-11098351-C-T c.869C>T p.A290V Missense 6/35 - 1
19-11098359-G-A c.877G>A p.A293T Missense 6/35 - 1
19-11098363-C-T c.881C>T p.A294V Missense 6/35 - 1
19-11098365-C-T c.883C>T p.P295S Missense 6/35 - 1
19-11098365-CC-TT c.883_884delinsTT p.P295F Missense 6/35 - 1
19-11098366-C-T c.884C>T p.P295L Missense 6/35 - 1
19-11098371-AG-TT c.889_890delinsTT p.S297F Missense 6/35 - 1
19-11098375-C-G c.893C>G p.T298S Missense 6/35 - 1
19-11098374-A-T c.892A>T p.T298S Missense 6/35 - 1
19-11098377-C-A c.895C>A p.P299T Missense 6/35 - 1
19-11098378-C-T c.896C>T p.P299L Missense 6/35 - 1
19-11098380-C-T c.898C>T p.Q300* Nonsense 6/35 - 4
19-11098380-C-G c.898C>G p.Q300E Missense 6/35 - 1
19-11098380-C-A c.898C>A p.Q300K Missense 6/35 - 1
19-11098390-T-C c.908T>C p.I303T Missense 6/35 - 1
19-11098392-C-T c.910C>T p.P304S Missense 6/35 - 1
19-11098392-C-A c.910C>A p.P304T Missense 6/35 - 1
19-11098393-C-T c.911C>T p.P304L Missense 6/35 - 3
19-11098395-C-T c.913C>T p.P305S Missense 6/35 - 1
19-11098396-C-T c.914C>T p.P305L Missense 6/35 - 1
19-11098397-G-A c.915G>A p.P305= Synonymous 6/35 - 1
19-11098397-G-T c.915G>T p.P305= Synonymous 6/35 - 1
19-11098398-C-T c.916C>T p.Q306* Nonsense 6/35 - 1
19-11098401-C-T c.919C>T p.P307S Missense 6/35 - 1
19-11098405-C-T c.923C>T p.T308M Missense 6/35 - 1
19-11098407-G-A c.925G>A p.G309S Missense 6/35 - 1
19-11098408-G-A c.926G>A p.G309D Missense 6/35 - 1
19-11098410-C-T c.928C>T p.R310C Missense 6/35 - 1
19-11098411-G-A c.929G>A p.R310H Missense 6/35 - 2
19-11098411-GC-AA c.929_930delinsAA p.R310Q Missense 6/35 - 1
19-11098413-C-T c.931C>T p.P311S Missense 6/35 - 1
19-11098413-CC-TT c.931_932delinsTT p.P311F Missense 6/35 - 1
19-11098414-C-G c.932C>G p.P311R Missense 6/35 - 1
19-11098414-C-T c.932C>T p.P311L Missense 6/35 - 1
19-11098417-C-A c.935C>A p.S312Y Missense 6/35 - 1
19-11098417-C-T c.935C>T p.S312F Missense 6/35 - 1
19-11098419-C-T c.937C>T p.P313S Missense 6/35 - 2
19-11098420-C-T c.938C>T p.P313L Missense 6/35 - 1
19-11098422-G-C c.940G>C p.A314P Missense 6/35 - 1
19-11098422-G-A c.940G>A p.A314T Missense 6/35 - 1
19-11098423-C-T c.941C>T p.A314V Missense 6/35 - 1
19-11098426-C-T c.944C>T p.P315L Missense 6/35 - 1
19-11098428-C-T c.946C>T p.P316S Missense 6/35 - 1
19-11098428-CC-TT c.946_947delinsTT p.P316F Missense 6/35 - 1
19-11098430-CT-C c.948del p.A317Pfs*9 Frameshift 6/35 - 1
19-11098432-C-T c.950C>T p.A317V Missense 6/35 - 1
19-11098434-G-A c.952G>A p.V318I Missense 6/35 - 1
19-11098437-C-T c.955C>T p.P319S Missense 6/35 - 1
19-11098438-C-T c.956C>T p.P319L Missense 6/35 - 1
19-11098441-C-T c.959C>T p.P320L Missense 6/35 - 1
19-11098443-G-A c.961G>A p.A321T Missense 6/35 - 3
19-11098443-G-C c.961G>C p.A321P Missense 6/35 - 1
19-11098443-G-T c.961G>T p.A321S Missense 6/35 - 1
19-11098446-G-T c.964G>T p.A322S Missense 6/35 - 2
19-11098446-G-A c.964G>A p.A322T Missense 6/35 - 1
19-11098449-TCG-GAC c.967_969delinsGAC p.S323D Missense 6/35 - 1
19-11098449-T-G c.967T>G p.S323A Missense 6/35 - 2
19-11098449-TC-GA c.967_968inv p.S323E Missense 6/35 - 1
19-11098450-C-T c.968C>T p.S323L Missense 6/35 - 1
19-11098450-C-G c.968C>G p.S323W Missense 6/35 - 1
19-11098452-C-T c.970C>T p.P324S Missense 6/35 - 1
19-11098453-C-T c.971C>T p.P324L Missense 6/35 - 1
19-11098456-T-C c.974T>C p.V325A Missense 6/35 - 1
19-11098460-G-C c.978G>C p.M326I Missense 6/35 - 1
19-11098460-G-A c.978G>A p.M326I Missense 6/35 - 1
19-11098460-G-T c.978G>T p.M326I Missense 6/35 - 1
19-11098461-C-T c.979C>T p.P327S Missense 6/35 - 1
19-11098463-A-T c.981A>T p.P327= Synonymous 6/35 - 1
19-11098463-A-G c.981A>G p.P327= Synonymous 6/35 - 1
19-11098463-A-C c.981A>C p.P327= Synonymous 6/35 - 1
19-11098465-C-T c.983C>T p.P328L Missense 6/35 - 2
19-11098468-A-G c.986A>G p.Q329R Missense 6/35 - 1
19-11098473-C-T c.991C>T p.Q331* Nonsense 6/35 - 3
19-11098477-C-G c.995C>G p.S332C Missense 6/35 - 1
19-11098477-C-T c.995C>T p.S332F Missense 6/35 - 1
19-11098479-C-T c.997C>T p.P333S Missense 6/35 - 1
19-11098480-C-T c.998C>T p.P333L Missense 6/35 - 1
19-11098482-G-GAA c.1000_1001insAA p.G334Efs*78 Frameshift 6/35 - 1
19-11098482-GGG-AGC c.1000_1002delinsAGC p.G334S Missense 6/35 - 1
19-11098482-GG-AA c.1000_1001delinsAA p.G334K Missense 6/35 - 1
19-11098482-G-A c.1000G>A p.G334R Missense 6/35 - 1
19-11098482-G-C c.1000G>C p.G334R Missense 6/35 - 1
19-11098483-G-A c.1001G>A p.G334E Missense 6/35 - 1
19-11098485-C-A c.1003C>A p.Q335K Missense 6/35 - 1
19-11098488-C-A c.1006C>A p.P336T Missense 6/35 - 1
19-11098489-C-T c.1007C>T p.P336L Missense 6/35 - 1
19-11098491-G-T c.1009G>T p.A337S Missense 6/35 - 1
19-11098494-C-T c.1012C>T p.Q338* Nonsense 6/35 - 1
19-11098497-CC-TT c.1015_1016delinsTT p.P339F Missense 6/35 - 1
19-11098498-C-T c.1016C>T p.P339L Missense 6/35 - 2
19-11098500-G-A c.1018G>A p.A340T Missense 6/35 - 3
19-11098500-G-T c.1018G>T p.A340S Missense 6/35 - 1
19-11098501-GC-G c.1019del p.A340Gfs*71 Frameshift 6/35 - 1
19-11098501-C-T c.1019C>T p.A340V Missense 6/35 - 1
19-11098504-C-A c.1022C>A p.P341H Missense 6/35 - 1
19-11098507-TG-T c.1027del p.V343Cfs*68 Frameshift 6/35 - 1
19-11098512-C-T c.1030C>T p.P344S Missense 6/35 - 1
19-11098512-C-A c.1030C>A p.P344T Missense 6/35 - 1
19-11098516-T-C c.1034T>C p.L345P Missense 6/35 - 1
19-11098521-C-T c.1039C>T p.Q347* Nonsense 6/35 - 2
19-11098522-A-G c.1040A>G p.Q347R Missense 6/35 - 1
19-11098527-C-T c.1045C>T p.Q349* Nonsense 6/35 - 1
19-11098531-G-A c.1049G>A p.S350N Missense 6/35 - 1
19-11098532-C-G c.1050C>G p.S350R Missense 6/35 - 1
19-11098534-G-T c.1052G>T p.R351L Missense 6/35 - 1
19-11098534-GC-AA c.1052_1053delinsAA p.R351Q Missense 6/35 - 1
19-11098534-G-A c.1052G>A p.R351H Missense 6/35 - 1
19-11098538-C-G c.1056C>G p.I352M Missense 6/35 - 1
19-11098540-C-T c.1058C>T p.T353I Missense 6/35 - 1
19-11098542-C-T c.1060C>T p.P354S Missense 6/35 - 1
19-11098547-C-G c.1065C>G p.I355M Missense 6/35 - 1
19-11098554-C-T c.1072C>T p.P358S Missense 6/35 - 1
19-11098555-C-A c.1073C>A p.P358Q Missense 6/35 - 1
19-11098555-C-T c.1073C>T p.P358L Missense 6/35 - 1
19-11098556-G-T c.1074G>T p.P358= Synonymous 6/35 - 1
19-11098556-G-A c.1074G>A p.P358= Synonymous 6/35 - 1
19-11098556-G-C c.1074G>C p.P358= Synonymous 6/35 - 1
19-11098557-C-T c.1075C>T p.R359W Missense 6/35 - 1
19-11098558-G-A c.1076G>A p.R359Q Missense 6/35 - 1
19-11098564-CT-C c.1082del p.L361Pfs*50 Frameshift 6/35 - 1
19-11098566-G-A c.1084G>A p.D362N Missense 6/35 - 1
19-11098569-C-T c.1087C>T p.P363S Missense 6/35 - 1
19-11098575-G-T c.1093G>T p.E365* Nonsense 6/35 - 1
19-11098579-T-C c.1097T>C p.I366T Missense 6/35 - 1
19-11098580-C-G c.1098C>G p.I366M Missense 6/35 - 1
19-11098586-G-T c.1104G>T p.Q368H Missense 6/35 - 1
19-11098586-G-C c.1104G>C p.Q368H Missense 6/35 - 1
19-11098587-G-T c.1105G>T p.E369* Nonsense 6/35 - 1
19-11098587-G-A c.1105G>A p.E369K Missense 6/35 - 1
19-11098590-C-T c.1108C>T p.R370C Missense 6/35 - 1
19-11098591-G-A c.1109G>A p.R370H Missense 6/35 - 3
19-11098592-C-T c.1110C>T p.R370= Synonymous 6/35 - 1
19-11098593-G-T c.1111G>T p.E371* Nonsense 6/35 - 3
19-11098593-G-A c.1111G>A p.E371K Missense 6/35 - 2
19-11098596-T-C c.1114T>C p.Y372H Missense 6/35 - 3
19-11099997-C-T c.1123C>T p.Q375* Nonsense 7/35 - 1
19-11099998-A-T c.1124A>T p.Q375L Missense 7/35 - 1
19-11100003-C-T c.1129C>T p.R377C Missense 7/35 - 3
19-11100004-G-A c.1130G>A p.R377H Missense 7/35 - 2
19-11100007-T-C c.1133T>C p.I378T Missense 7/35 - 1
19-11100009-G-A c.1135G>A p.A379T Missense 7/35 - 1
19-11100009-G-T c.1135G>T p.A379S Missense 7/35 - 1
19-11100014-C-A c.1140C>A p.H380Q Missense 7/35 - 1
19-11100014-C-G c.1140C>G p.H380Q Missense 7/35 - 1
19-11100015-C-T c.1141C>T p.R381* Nonsense 7/35 - 7
19-11100016-G-T c.1142G>T p.R381L Missense 7/35 - 2
19-11100016-G-A c.1142G>A p.R381Q Missense 7/35 - 4
19-11100021-C-T c.1147C>T p.Q383* Nonsense 7/35 - 1
19-11100024-G-T c.1150G>T p.E384* Nonsense 7/35 - 2
19-11100027-C-G c.1153C>G p.L385V Missense 7/35 - 1
19-11100028-T-C c.1154T>C p.L385P Missense 7/35 - 1
19-11100030-G-T c.1156G>T p.E386* Nonsense 7/35 - 1
19-11100030-TGA-T c.1156_1157del p.E386Kfs*17 Frameshift 7/35 - 1
19-11100033-A-C c.1159A>C p.N387H Missense 7/35 - 1
19-11100036-C-A c.1162C>A p.L388I Missense 7/35 - 1
19-11100036-C-T c.1162C>T p.L388F Missense 7/35 - 1
19-11100037-T-G c.1163T>G p.L388R Missense 7/35 - 1
19-11100039-C-T c.1165C>T p.P389S Missense 7/35 - 1
19-11100042-G-A c.1168G>A p.G390R Missense 7/35 - 1
19-11100045-GT-G c.1171del p.S391Pfs*20 Frameshift 7/35 - 1
19-11100046-C-A c.1172C>A p.S391Y Missense 7/35 - 1
19-11100046-C-T c.1172C>T p.S391F Missense 7/35 - 1
19-11100048-C-G c.1174C>G p.L392V Missense 7/35 - 2
19-11100049-T-C c.1175T>C p.L392P Missense 7/35 - 1
19-11100051-G-A c.1177G>A p.A393T Missense 7/35 - 1
19-11100052-GCCGGGGA-G c.1178_1184del p.A393Vfs*16 Frameshift 7/35 - 1
19-11100054-G-A c.1180G>A p.G394R Missense 7/35 - 1
19-11100054-G-C c.1180G>C p.G394R Missense 7/35 - 1
19-11100054-G-T c.1180G>T p.G394W Missense 7/35 - 1
19-11100063-C-T c.1189C>T p.R397* Nonsense 7/35 - 3
19-11100064-G-A c.1190G>A p.R397Q Missense 7/35 - 2
19-11100066-A-G c.1192A>G p.T398A Missense 7/35 - 1
19-11100073-C-T c.1199C>T p.A400V Missense 7/35 - 1
19-11100081-G-T c.1207G>T p.E403* Nonsense 7/35 - 1
19-11100085-T-A c.1211T>A p.L404H Missense 7/35 - 3
19-11100089-G-C c.1215G>C p.K405N Missense 7/35 - 1
19-11100089-G-T c.1215G>T p.K405N Missense 7/35 - 1
19-11100090-G-A c.1216G>A p.A406T Missense 7/35 - 1
19-11100093-C-T c.1219C>T p.L407F Missense 7/35 - 2
19-11100090-GC-G c.1219del p.L407Sfs*4 Frameshift 7/35 - 1
19-11100093-C-A c.1219C>A p.L407I Missense 7/35 - 1
19-11100097-G-T c.1223G>T p.R408M Missense 7/35 - 1
19-11100098-GCT-AG c.1224_1226delinsAG p.L409Gfs*2 Frameshift 7/35 - 1
19-11100111-C-T c.1237C>T p.Q413* Nonsense 7/35 - 3
19-11100109-TC-T c.1237del p.Q413Rfs*88 Frameshift 7/35 - 1
19-11100116-G-GC c.1243dup p.Q415Pfs*23 SpliceDonorInsertion 7/35 - 1
19-11100119-G-T c.1245G>T p.Q415H Missense 7/35 - 1
19-11100119-G-C c.1245G>C p.Q415H Missense 7/35 - 1
19-11101829-C-T c.1249C>T p.R417C Missense 8/35 - 2
19-11101830-G-A c.1250G>A p.R417H Missense 8/35 - 2
19-11101830-G-C c.1250G>C p.R417P Missense 8/35 - 1
19-11101832-C-T c.1252C>T p.Q418* Nonsense 8/35 - 1
19-11101833-A-C c.1253A>C p.Q418P Missense 8/35 - 1
19-11101834-G-T c.1254G>T p.Q418H Missense 8/35 - 1
19-11101834-G-C c.1254G>C p.Q418H Missense 8/35 - 1
19-11101835-G-A c.1255G>A p.E419K Missense 8/35 - 2
19-11101835-G-T c.1255G>T p.E419* Nonsense 8/35 - 1
19-11101835-G-C c.1255G>C p.E419Q Missense 8/35 - 1
19-11101836-A-T c.1256A>T p.E419V Missense 8/35 - 1
19-11101838-GTG-ATC c.1258_1260delinsATC p.V420I Missense 8/35 - 1
19-11101838-G-C c.1258G>C p.V420L Missense 8/35 - 1
19-11101838-G-T c.1258G>T p.V420L Missense 8/35 - 1
19-11101841-G-A c.1261G>A p.V421M Missense 8/35 - 1
19-11101842-T-C c.1262T>C p.V421A Missense 8/35 - 1
19-11101848-G-A c.1268G>A p.C423Y Missense 8/35 - 1
19-11101850-A-C c.1270A>C p.M424L Missense 8/35 - 1
19-11101850-A-T c.1270A>T p.M424L Missense 8/35 - 1
19-11101853-C-T c.1273C>T p.R425W Missense 8/35 - 3
19-11101854-G-A c.1274G>A p.R425Q Missense 8/35 - 1
19-11101854-GG-AT c.1274_1275delinsAT p.R425H Missense 8/35 - 1
19-11101859-G-T c.1279G>T p.D427Y Missense 8/35 - 1
19-11101865-G-A c.1285G>A p.A429T Missense 8/35 - 1
19-11101869-T-C c.1289T>C p.L430P Missense 8/35 - 1
19-11101871-G-T c.1291G>T p.E431* Nonsense 8/35 - 1
19-11101880-C-A c.1300C>A p.L434I Missense 8/35 - 1
19-11101887-C-A c.1307C>A p.A436D Missense 8/35 - 1
19-11101887-C-G c.1307C>G p.A436G Missense 8/35 - 1
19-11101895-T-C c.1315T>C p.Y439H Missense 8/35 - 1
19-11101897-C-A c.1317C>A p.Y439* Nonsense 8/35 - 2
19-11101897-C-G c.1317C>G p.Y439* Nonsense 8/35 - 2
19-11101898-A-T c.1318A>T p.K440* Nonsense 8/35 - 1
19-11101902-G-A c.1322G>A p.R441H Missense 8/35 - 1
19-11101902-G-T c.1322G>T p.R441L Missense 8/35 - 1
19-11101906-GC-G c.1326del p.S442Rfs*59 Frameshift 8/35 - 2
19-11101907-A-C c.1327A>C p.K443Q Missense 8/35 - 1
19-11101910-C-T c.1330C>T p.R444C Missense 8/35 - 1
19-11101911-G-A c.1331G>A p.R444H Missense 8/35 - 1
19-11101915-AG-A c.1335del p.Q445Hfs*56 Frameshift 8/35 - 1
19-11101917-C-T c.1337C>T p.S446F Missense 8/35 - 1
19-11101919-C-G c.1339C>G p.L447V Missense 8/35 - 1
19-11101922-C-T c.1342C>T p.R448C Missense 8/35 - 2
19-11101923-G-A c.1343G>A p.R448H Missense 8/35 - 2
19-11101925-G-A c.1345G>A p.E449K Missense 8/35 - 2
19-11101925-G-T c.1345G>T p.E449* Nonsense 8/35 - 1
19-11101929-C-A c.1349C>A p.A450D Missense 8/35 - 1
19-11101931-C-T c.1351C>T p.R451C Missense 8/35 - 2
19-11101932-G-T c.1352G>T p.R451L Missense 8/35 - 2
19-11101932-G-A c.1352G>A p.R451H Missense 8/35 - 2
19-11101940-G-A c.1360G>A p.E454K Missense 8/35 - 1
19-11101949-G-T c.1369G>T p.E457* Nonsense 8/35 - 1
19-11101951-G-C c.1371G>C p.E457D Missense 8/35 - 1
19-11101947-TGGAGAAGCAGCAGAAGATCGAGCA-T c.1372_1395del p.K458_E465del InFrameDeletion 8/35 - 1
19-11101952-GAAGCAGCAGAAGAT-G c.1372_1385del p.K458Rfs*16 Frameshift 8/35 - 1
19-11101956-A-C c.1376A>C p.Q459P Missense 8/35 - 1
19-11101957-G-T c.1377G>T p.Q459H Missense 8/35 - 1
19-11101957-G-C c.1377G>C p.Q459H Missense 8/35 - 1
19-11101958-C-T c.1378C>T p.Q460* Nonsense 8/35 - 1
19-11101959-CA-C c.1379del p.Q460Rfs*41 Frameshift 8/35 - 1
19-11101959-A-C c.1379A>C p.Q460P Missense 8/35 - 1
19-11101960-G-T c.1380G>T p.Q460H Missense 8/35 - 1
19-11101960-G-C c.1380G>C p.Q460H Missense 8/35 - 1
19-11101960-GA-G c.1382del p.K461Rfs*40 Frameshift 8/35 - 1
19-11101967-G-A c.1387G>A p.E463K Missense 8/35 - 1
19-11101967-G-T c.1387G>T p.E463* Nonsense 8/35 - 1
19-11101969-G-C c.1389G>C p.E463D Missense 8/35 - 1
19-11101969-G-T c.1389G>T p.E463D Missense 8/35 - 1
19-11101970-C-T c.1390C>T p.Q464* Nonsense 8/35 - 1
19-11101971-A-C c.1391A>C p.Q464P Missense 8/35 - 1
19-11101973-G-A c.1393G>A p.E465K Missense 8/35 - 1
19-11101973-G-T c.1393G>T p.E465* Nonsense 8/35 - 1
19-11101976-C-T c.1396C>T p.R466C Missense 8/35 - 2
19-11101977-G-A c.1397G>A p.R466H Missense 8/35 - 2
19-11101977-G-C c.1397G>C p.R466P Missense 8/35 - 1
19-11101979-A-G c.1399A>G p.K467E Missense 8/35 - 1
19-11101979-A-T c.1399A>T p.K467* Nonsense 8/35 - 1
19-11101982-C-T c.1402C>T p.R468C Missense 8/35 - 2
19-11101982-CGC-TGG c.1402_1404delinsTGG p.R468W Missense 8/35 - 1
19-11101983-G-T c.1403G>T p.R468L Missense 8/35 - 1
19-11101983-G-A c.1403G>A p.R468H Missense 8/35 - 1
19-11101985-C-T c.1405C>T p.R469W Missense 8/35 - 4
19-11101986-G-A c.1406G>A p.R469Q Missense 8/35 - 1
19-11101986-G-C c.1406G>C p.R469P Missense 8/35 - 1
19-11101988-C-T c.1408C>T p.Q470* Nonsense 8/35 - 2
19-11101989-A-C c.1409A>C p.Q470P Missense 8/35 - 1
19-11101997-C-T c.1417C>T p.Q473* Nonsense 8/35 - 1
19-11101998-A-G c.1418A>G p.Q473R Missense 8/35 - 1
19-11102001-T-C c.1419+2T>C - IntronicSNV - 8/34 1
19-11102004-G-A c.1419+5G>A - IntronicSNV - 8/34 1
19-11105504-G-T c.1420G>T p.E474* Nonsense 9/35 - 2
19-11105507-T-C c.1423T>C p.Y475H Missense 9/35 - 1
19-11105509-C-A c.1425C>A p.Y475* Nonsense 9/35 - 1
19-11105509-C-G c.1425C>G p.Y475* Nonsense 9/35 - 1
19-11105511-CT-C c.1427del p.L476Pfs*25 Frameshift 9/35 - 1
19-11105516-A-T c.1432A>T p.S478C Missense 9/35 - 1
19-11105516-AG-CC c.1432_1433delinsCC p.S478P Missense 9/35 - 1
19-11105517-G-T c.1433G>T p.S478I Missense 9/35 - 1
19-11105519-A-G c.1435A>G p.I479V Missense 9/35 - 1
19-11105522-C-A c.1438C>A p.L480I Missense 9/35 - 1
19-11105525-C-T c.1441C>T p.Q481* Nonsense 9/35 - 1
19-11105534-A-T c.1450A>T p.K484* Nonsense 9/35 - 2
19-11105536-G-C c.1452G>C p.K484N Missense 9/35 - 1
19-11105536-G-T c.1452G>T p.K484N Missense 9/35 - 1
19-11105535-AG-A c.1453del p.D485Ifs*16 Frameshift 9/35 - 1
19-11105540-T-C c.1456T>C p.F486L Missense 9/35 - 1
19-11105542-C-A c.1458C>A p.F486L Missense 9/35 - 1
19-11105542-C-G c.1458C>G p.F486L Missense 9/35 - 1
19-11105546-G-T c.1462G>T p.E488* Nonsense 9/35 - 1
19-11105547-A-G c.1463A>G p.E488G Missense 9/35 - 1
19-11105552-C-T c.1468C>T p.H490Y Missense 9/35 - 1
19-11105552-C-G c.1468C>G p.H490D Missense 9/35 - 1
19-11105556-G-T c.1472G>T p.R491I Missense 9/35 - 1
19-11105558-T-C c.1474T>C p.S492P Missense 9/35 - 1
19-11105557-ATCCG-A c.1476_1479del p.V493Qfs*7 Frameshift 9/35 - 1
19-11105561-G-A c.1477G>A p.V493I Missense 9/35 - 1
19-11105564-A-G c.1480A>G p.T494A Missense 9/35 - 1
19-11105564-A-T c.1480A>T p.T494S Missense 9/35 - 1
19-11105568-G-A c.1484G>A p.G495D Missense 9/35 - 1
19-11105576-C-T c.1492C>T p.Q498* Nonsense 9/35 - 1
19-11105590-G-C c.1506G>C p.K502N Missense 9/35 - 1
19-11105590-G-T c.1506G>T p.K502N Missense 9/35 - 1
19-11105592-GC-G c.1508del p.A503Efs*110 Frameshift 9/35 - 1
19-11105592-C-T c.1508C>T p.A503V Missense 9/35 - 1
19-11105592-C-A c.1508C>A p.A503E Missense 9/35 - 1
19-11105593-A-C c.1509A>C p.A503= Synonymous 9/35 - 1
19-11105595-T-C c.1511T>C p.V504A Missense 9/35 - 1
19-11105598-C-A c.1514C>A p.A505D Missense 9/35 - 1
19-11105598-C-T c.1514C>T p.A505V Missense 9/35 - 1
19-11105601-C-T c.1517C>T p.T506M Missense 9/35 - 1
19-11105603-T-C c.1519T>C p.Y507H Missense 9/35 - 2
19-11105605-C-T c.1521C>T p.Y507= Synonymous 9/35 - 1
19-11105605-C-A c.1521C>A p.Y507* Nonsense 9/35 - 1
19-11105607-A-G c.1523A>G p.H508R Missense 9/35 - 1
19-11105608-T-C c.1524T>C p.H508= Synonymous 9/35 - 6
19-11105609-G-T c.1525G>T p.A509S Missense 9/35 - 1
19-11105612-A-G c.1528A>G p.N510D Missense 9/35 - 1
19-11105618-G-T c.1534G>T p.E512* Nonsense 9/35 - 2
19-11105618-G-GA c.1535dup p.R513Afs*21 Frameshift 9/35 - 1
19-11105621-C-T c.1537C>T p.R513W Missense 9/35 - 1
19-11105622-G-A c.1538G>A p.R513Q Missense 9/35 - 1
19-11105622-G-C c.1538G>C p.R513P Missense 9/35 - 1
19-11105624-G-T c.1540G>T p.E514* Nonsense 9/35 - 2
19-11105624-G-C c.1540G>C p.E514Q Missense 9/35 - 1
19-11105627-C-T c.1543C>T p.Q515* Nonsense 9/35 - 2
19-11105629-G-T c.1545G>T p.Q515H Missense 9/35 - 1
19-11105629-G-C c.1545G>C p.Q515H Missense 9/35 - 1
19-11105630-A-C c.1546A>C p.K516Q Missense 9/35 - 1
19-11105630-A-T c.1546A>T p.K516* Nonsense 9/35 - 1
19-11105633-A-G c.1549A>G p.K517E Missense 9/35 - 2
19-11105634-A-G c.1550A>G p.K517R Missense 9/35 - 1
19-11105641-C-T c.1557C>T p.N519= Synonymous 9/35 - 1
19-11105642-G-T c.1558G>T p.E520* Nonsense 9/35 - 2
19-11105643-A-T c.1559A>T p.E520V Missense 9/35 - 1
19-11105645-C-G c.1561C>G p.R521G Missense 9/35 - 1
19-11105645-C-T c.1561C>T p.R521W Missense 9/35 - 1
19-11105646-G-A c.1562G>A p.R521Q Missense 9/35 - 1
19-11105646-G-T c.1562G>T p.R521L Missense 9/35 - 1
19-11105651-G-T c.1567G>T p.E523* Nonsense 9/35 - 1
19-11105651-G-C c.1567G>C p.E523Q Missense 9/35 - 1
19-11105651-G-A c.1567G>A p.E523K Missense 9/35 - 1
19-11105652-A-T c.1568A>T p.E523V Missense 9/35 - 1
19-11105653-G-C c.1569G>C p.E523D Missense 9/35 - 1
19-11105653-G-T c.1569G>T p.E523D Missense 9/35 - 1
19-11105654-A-T c.1570A>T p.K524* Nonsense 9/35 - 1
19-11105651-GAGA-G c.1570_1572del p.K524del InFrameDeletion 9/35 - 1
19-11105655-A-T c.1571A>T p.K524M Missense 9/35 - 1
19-11105660-C-G c.1576C>G p.R526G Missense 9/35 - 1
19-11105660-C-T c.1576C>T p.R526C Missense 9/35 - 1
19-11105661-G-A c.1577G>A p.R526H Missense 9/35 - 1
19-11105667-G-A c.1583G>A p.R528Q Missense 9/35 - 3
19-11105670-G-T c.1586G>T p.R529M Missense 9/35 - 1
19-11105673-T-C c.1589T>C p.L530P Missense 9/35 - 1
19-11105678-G-A c.1593+1G>A - IntronicSNV - 9/34 1
19-11106600-C-T c.1594-289C>T - IntronicSNV - 9/34 3
19-11106790-T-C c.1594-99T>C - IntronicSNV - 9/34 1
19-11106887-A-AG c.1594dup p.A532Gfs*2 SpliceAcceptorInsertion 10/35 - 1
19-11106890-GC-G c.1595del p.A532Vfs*81 Frameshift 10/35 - 1
19-11106890-C-T c.1595C>T p.A532V Missense 10/35 - 1
19-11106898-G-T c.1603G>T p.E535* Nonsense 10/35 - 1
19-11106898-G-A c.1603G>A p.E535K Missense 10/35 - 1
19-11106900-G-GT c.1605_1606insT p.E536* Nonsense 10/35 - 1
19-11106901-G-T c.1606G>T p.E536* Nonsense 10/35 - 1
19-11106897-TGAG-T c.1607_1609del p.E536del InFrameDeletion 10/35 - 1
19-11106907-T-C c.1612T>C p.Y538H Missense 10/35 - 1
19-11106909-C-A c.1614C>A p.Y538* Nonsense 10/35 - 1
19-11106909-C-G c.1614C>G p.Y538* Nonsense 10/35 - 1
19-11106910-C-T c.1615C>T p.R539C Missense 10/35 - 1
19-11106911-G-T c.1616G>T p.R539L Missense 10/35 - 1
19-11106913-A-G c.1618A>G p.K540E Missense 10/35 - 1
19-11106921-TC-T c.1626del p.I542Mfs*71 Frameshift 10/35 - 1
19-11106924-C-G c.1629C>G p.D543E Missense 10/35 - 1
19-11106924-C-A c.1629C>A p.D543E Missense 10/35 - 1
19-11106930-G-C c.1635G>C p.K545N Missense 10/35 - 1
19-11106930-G-T c.1635G>T p.K545N Missense 10/35 - 1
19-11106925-CAGA-C c.1636_1638del p.K546del InFrameDeletion 10/35 - 3
19-11106931-A-T c.1636A>T p.K546* Nonsense 10/35 - 1
19-11106933-G-C c.1638G>C p.K546N Missense 10/35 - 1
19-11106933-G-T c.1638G>T p.K546N Missense 10/35 - 1
19-11106934-G-A c.1639G>A p.D547N Missense 10/35 - 1
19-11106936-AC-A c.1641del p.D547Efs*66 Frameshift 10/35 - 1
19-11106940-C-T c.1645C>T p.R549C Missense 10/35 - 5
19-11106940-CGC-TGG c.1645_1647delinsTGG p.R549W Missense 10/35 - 1
19-11106941-G-A c.1646G>A p.R549H Missense 10/35 - 1
19-11106946-G-A c.1651G>A p.A551T Missense 10/35 - 1
19-11106952-C-T c.1657C>T p.L553F Missense 10/35 - 1
19-11106958-C-A c.1663C>A p.Q555K Missense 10/35 - 1
19-11106958-C-T c.1663C>T p.Q555* Nonsense 10/35 - 4
19-11106961-C-T c.1666C>T p.Q556* Nonsense 10/35 - 2
19-11106962-A-G c.1667A>G p.Q556R Missense 10/35 - 1
19-11106964-A-G c.1669A>G p.T557A Missense 10/35 - 1
19-11106965-C-G c.1670C>G p.T557R Missense 10/35 - 1
19-11106967-G-A c.1672G>A p.D558N Missense 10/35 - 1
19-11106970-G-A c.1675G>A p.E559K Missense 10/35 - 1
19-11106970-G-T c.1675G>T p.E559* Nonsense 10/35 - 1
19-11106976-G-C c.1681G>C p.V561L Missense 10/35 - 1
19-11106976-G-T c.1681G>T p.V561L Missense 10/35 - 1
19-11106977-T-C c.1682T>C p.V561A Missense 10/35 - 1
19-11106980-C-T c.1685C>T p.A562V Missense 10/35 - 1
19-11106982-A-T c.1687A>T p.N563Y Missense 10/35 - 1
19-11106983-A-G c.1688A>G p.N563S Missense 10/35 - 1
19-11106989-C-T c.1694C>T p.T565M Missense 10/35 - 1
19-11106990-G-A c.1695G>A p.T565= Synonymous 10/35 - 1
19-11106991-G-T c.1696G>T p.E566* Nonsense 10/35 - 1
19-11107000-C-T c.1705C>T p.R569W Missense 10/35 - 1
19-11107001-G-A c.1706G>A p.R569Q Missense 10/35 - 1
19-11107008-C-A c.1713C>A p.H571Q Missense 10/35 - 1
19-11107008-C-G c.1713C>G p.H571Q Missense 10/35 - 1
19-11107013-GC-G c.1718del p.A573Vfs*40 Frameshift 10/35 - 1
19-11107016-C-T c.1721C>T p.A574V Missense 10/35 - 1
19-11107024-G-A c.1729G>A p.A577T Missense 10/35 - 1
19-11107026-CA-C c.1733del p.K578Rfs*35 Frameshift 10/35 - 1
19-11107030-G-T c.1735G>T p.E579* Nonsense 10/35 - 1
19-11107030-G-A c.1735G>A p.E579K Missense 10/35 - 1
19-11107032-G-C c.1737G>C p.E579D Missense 10/35 - 1
19-11107032-G-T c.1737G>T p.E579D Missense 10/35 - 1
19-11107035-A-G c.1740A>G p.K580= Synonymous 10/35 - 1
19-11107043-A-C c.1748A>C p.K583T Missense 10/35 - 1
19-11107043-A-T c.1748A>T p.K583I Missense 10/35 - 1
19-11107047-G-C c.1752G>C p.K584N Missense 10/35 - 2
19-11107047-GAAAA-G c.1754_1757del p.K585Rfs*27 Frameshift 10/35 - 1
19-11107051-A-T c.1756A>T p.K586* Nonsense 10/35 - 1
19-11107049-AAAAG-A c.1757_1760del p.K586Rfs*26 SpliceDonorDeletion 10/35 - 2
19-11107056-G-T c.1761G>T p.K587N Missense 10/35 - 2
19-11107056-G-C c.1761G>C p.K587N Missense 10/35 - 1
19-11107058-T-A c.1761+2T>A - IntronicSNV - 10/34 1
19-11107167-CAGA-C c.1762_1764del p.K588del InFrameDeletion 11/35 - 1
19-11107173-G-A c.1765G>A p.A589T Missense 11/35 - 1
19-11107174-C-T c.1766C>T p.A589V Missense 11/35 - 1
19-11107182-G-T c.1774G>T p.A592S Missense 11/35 - 1
19-11107182-G-A c.1774G>A p.A592T Missense 11/35 - 1
19-11107183-C-T c.1775C>T p.A592V Missense 11/35 - 1
19-11107185-G-C c.1777G>C p.E593Q Missense 11/35 - 1
19-11107183-CAGA-C c.1778_1780del p.E593del InFrameDeletion 11/35 - 1
19-11107188-G-T c.1780G>T p.G594* Nonsense 11/35 - 1
19-11107191-C-T c.1783C>T p.Q595* Nonsense 11/35 - 1
19-11107194-A-G c.1786A>G p.T596A Missense 11/35 - 1
19-11107195-C-T c.1787C>T p.T596M Missense 11/35 - 1
19-11107204-T-C c.1796T>C p.I599T Missense 11/35 - 1
19-11107207-G-T c.1799G>T p.G600V Missense 11/35 - 1
19-11107210-C-T c.1802C>T p.P601L Missense 11/35 - 1
19-11107212-G-A c.1804G>A p.D602N Missense 11/35 - 1
19-11107215-G-C c.1807G>C p.G603R Missense 11/35 - 1
19-11107218-G-A c.1810G>A p.E604K Missense 11/35 - 1
19-11107218-G-T c.1810G>T p.E604* Nonsense 11/35 - 1
19-11107220-G-C c.1812G>C p.E604D Missense 11/35 - 1
19-11107220-G-T c.1812G>T p.E604D Missense 11/35 - 1
19-11107221-G-T c.1812+1G>T - IntronicSNV - 11/34 1
19-11113706-C-A c.1814C>A p.P605H Missense 12/35 - 1
19-11113708-C-A c.1816C>A p.L606M Missense 12/35 - 1
19-11113714-G-T c.1822G>T p.E608* Nonsense 12/35 - 1
19-11113718-C-G c.1826C>G p.T609S Missense 12/35 - 1
19-11113717-A-T c.1825A>T p.T609S Missense 12/35 - 1
19-11113718-C-T c.1826C>T p.T609I Missense 12/35 - 1
19-11113723-C-T c.1831C>T p.Q611* Nonsense 12/35 - 2
19-11113725-G-T c.1833G>T p.Q611H Missense 12/35 - 2
19-11113725-G-C c.1833G>C p.Q611H Missense 12/35 - 1
19-11113729-AG-GC c.1837_1838delinsGC p.S613A Missense 12/35 - 1
19-11113729-AGC-GAG c.1837_1839delinsGAG p.S613E Missense 12/35 - 1
19-11113732-G-A c.1840G>A p.D614N Missense 12/35 - 2
19-11113733-A-G c.1841A>G p.D614G Missense 12/35 - 3
19-11113735-C-T c.1843C>T p.L615F Missense 12/35 - 1
19-11113736-T-C c.1844T>C p.L615P Missense 12/35 - 1
19-11113741-G-T c.1849G>T p.V617L Missense 12/35 - 2
19-11113741-G-C c.1849G>C p.V617L Missense 12/35 - 1
19-11113753-C-T c.1861C>T p.H621Y Missense 12/35 - 1
19-11113756-G-A c.1864G>A p.V622M Missense 12/35 - 1
19-11113759-G-T c.1867G>T p.E623* Nonsense 12/35 - 1
19-11113762-AGT-TGA c.1870_1872delinsTGA p.S624* Nonsense 12/35 - 1
19-11113774-C-T c.1882C>T p.L628F Missense 12/35 - 1
19-11113780-G-T c.1888G>T p.G630C Missense 12/35 - 1
19-11113780-G-A c.1888G>A p.G630S Missense 12/35 - 1
19-11113786-G-T c.1894G>T p.D632Y Missense 12/35 - 1
19-11113787-A-C c.1895A>C p.D632A Missense 12/35 - 1
19-11113792-C-T c.1900C>T p.P634S Missense 12/35 - 1
19-11113792-C-A c.1900C>A p.P634T Missense 12/35 - 1
19-11113793-C-A c.1901C>A p.P634H Missense 12/35 - 1
19-11113798-G-A c.1906G>A p.A636T Missense 12/35 - 1
19-11113799-C-T c.1907C>T p.A636V Missense 12/35 - 1
19-11113801-G-A c.1909G>A p.G637R Missense 12/35 - 2
19-11113801-G-C c.1909G>C p.G637R Missense 12/35 - 2
19-11113802-G-A c.1910G>A p.G637E Missense 12/35 - 1
19-11113804-C-G c.1912C>G p.Q638E Missense 12/35 - 1
19-11113807-C-G c.1915C>G p.L639V Missense 12/35 - 1
19-11113810-G-T c.1918G>T p.E640* Nonsense 12/35 - 1
19-11113817-G-A c.1925G>A p.W642* Nonsense 12/35 - 1
19-11113818-G-A c.1926G>A p.W642* Nonsense 12/35 - 1
19-11113822-G-A c.1930G>A p.E644K Missense 12/35 - 1
19-11113822-G-T c.1930G>T p.E644* Nonsense 12/35 - 1
19-11113827-G-C c.1935G>C p.M645I Missense 12/35 - 1
19-11113829-A-G c.1937A>G p.N646S Missense 12/35 - 1
19-11113832-C-T c.1940C>T p.P647L Missense 12/35 - 1
19-11113834-G-A c.1942G>A p.G648R Missense 12/35 - 1
19-11113834-G-C c.1942G>C p.G648R Missense 12/35 - 1
19-11113836-G-T c.1943+1G>T - IntronicSNV - 12/34 1
19-11113902-G-A c.1943+67G>A - IntronicSNV - 12/34 1
19-11114020-G-T c.1948G>T p.E650* Nonsense 13/35 - 2
19-11114020-G-A c.1948G>A p.E650K Missense 13/35 - 1
19-11114023-G-A c.1951G>A p.V651I Missense 13/35 - 2
19-11114029-C-T c.1957C>T p.P653S Missense 13/35 - 1
19-11114030-C-T c.1958C>T p.P653L Missense 13/35 - 1
19-11114032-A-G c.1960A>G p.R654G Missense 13/35 - 1
19-11114032-AGG-TGT c.1960_1962delinsTGT p.R654C Missense 13/35 - 1
19-11114032-AG-CA c.1960_1961delinsCA p.R654Q Missense 13/35 - 1
19-11114036-C-T c.1964C>T p.S655F Missense 13/35 - 1
19-11114036-C-G c.1964C>G p.S655C Missense 13/35 - 1
19-11114037-T-G c.1965T>G p.S655= Synonymous 13/35 - 1
19-11114042-G-C c.1970G>C p.S657T Missense 13/35 - 1
19-11114044-G-A c.1972G>A p.E658K Missense 13/35 - 1
19-11114043-T-TG c.1972dup p.E658Gfs*40 Frameshift 13/35 - 1
19-11114047-G-T c.1975G>T p.E659* Nonsense 13/35 - 2
19-11114047-G-A c.1975G>A p.E659K Missense 13/35 - 1
19-11114053-G-A c.1981G>A p.G661S Missense 13/35 - 1
19-11114054-G-A c.1982G>A p.G661D Missense 13/35 - 1
19-11114057-C-A c.1985C>A p.S662* Nonsense 13/35 - 1
19-11114057-C-G c.1985C>G p.S662* Nonsense 13/35 - 1
19-11114059-G-T c.1987G>T p.E663* Nonsense 13/35 - 1
19-11114059-G-A c.1987G>A p.E663K Missense 13/35 - 1
19-11114062-G-A c.1990G>A p.E664K Missense 13/35 - 1
19-11114057-CAGA-C c.1992_1994del p.E672del InFrameDeletion 13/35 - 1
19-11114065-G-T c.1993G>T p.E665* Nonsense 13/35 - 1
19-11114065-G-A c.1993G>A p.E665K Missense 13/35 - 1
19-11114070-A-AT c.1998_1999insT p.E667* Nonsense 13/35 - 3
19-11114070-A-AG c.1999dup p.E667Gfs*31 SpliceDonorInsertion 13/35 - 3
19-11114071-G-A c.1999G>A p.E667K Missense 13/35 - 1
19-11114071-G-T c.1999G>T p.E667* Nonsense 13/35 - 1
19-11114072-AG-A c.2001+1del - Frameshift - 13/34 1
19-11114206-C-T c.2001+133C>T - IntronicSNV - 13/34 2
19-11114226-T-C c.2001+153T>C - IntronicSNV - 13/34 1
19-11114236-A-G c.2001+163A>G - IntronicSNV - 13/34 1
19-11114352-A-G c.2001+279A>G - IntronicSNV - 13/34 6
19-11117436-T-C c.2002-1142T>C - IntronicSNV - 13/34 1
19-11118578-G-T c.2002G>T p.E668* Nonsense 14/35 - 1
19-11118577-GGAGGAGGAGGAAGAGCAGCCGCAGGCAGCACAGCCTCCCACCCTGCCCGTGGAGGAGAA-G c.2004_2062del p.E670Dfs*8 InFrameDeletion 14/35 - 1
19-11118580-G-GTGCA c.2004_2005insTGCA p.E669Cfs*30 Frameshift 14/35 - 1
19-11118580-G-C c.2004G>C p.E668D Missense 14/35 - 1
19-11118580-G-T c.2004G>T p.E668D Missense 14/35 - 1
19-11118583-G-C c.2007G>C p.E669D Missense 14/35 - 1
19-11118583-G-T c.2007G>T p.E669D Missense 14/35 - 1
19-11118585-A-C c.2009A>C p.E670A Missense 14/35 - 1
19-11118590-G-T c.2014G>T p.E672* Nonsense 14/35 - 1
19-11118590-AGAG-A c.2014_2016del p.E672del InFrameDeletion 14/35 - 1
19-11118590-G-C c.2014G>C p.E672Q Missense 14/35 - 1
19-11118596-C-T c.2020C>T p.P674S Missense 14/35 - 1
19-11118599-C-T c.2023C>T p.Q675* Nonsense 14/35 - 2
19-11118602-G-T c.2026G>T p.A676S Missense 14/35 - 1
19-11118606-C-G c.2030C>G p.A677G Missense 14/35 - 4
19-11118608-C-T c.2032C>T p.Q678* Nonsense 14/35 - 1
19-11118610-G-T c.2034G>T p.Q678H Missense 14/35 - 1
19-11118610-G-C c.2034G>C p.Q678H Missense 14/35 - 1
19-11118614-C-T c.2038C>T p.P680S Missense 14/35 - 1
19-11118614-C-G c.2038C>G p.P680A Missense 14/35 - 1
19-11118615-C-T c.2039C>T p.P680L Missense 14/35 - 1
19-11118618-C-T c.2042C>T p.T681I Missense 14/35 - 1
19-11118621-T-C c.2045T>C p.L682P Missense 14/35 - 1
19-11118623-C-T c.2047C>T p.P683S Missense 14/35 - 1
19-11118626-G-C c.2050G>C p.V684L Missense 14/35 - 1
19-11118626-G-T c.2050G>T p.V684L Missense 14/35 - 1
19-11118626-G-A c.2050G>A p.V684M Missense 14/35 - 1
19-11118627-T-A c.2051T>A p.V684E Missense 14/35 - 1
19-11118629-G-A c.2053G>A p.E685K Missense 14/35 - 1
19-11118629-G-T c.2053G>T p.E685* Nonsense 14/35 - 1
19-11118631-G-A c.2055G>A p.E685= Synonymous 14/35 - 1
19-11118632-G-T c.2056G>T p.E686* Nonsense 14/35 - 2
19-11118632-G-A c.2056G>A p.E686K Missense 14/35 - 1
19-11118627-TGGA-T c.2056_2058del p.E686del InFrameDeletion 14/35 - 1
19-11118633-A-G c.2057A>G p.E686G Missense 14/35 - 1
19-11118635-A-G c.2059A>G p.K687E Missense 14/35 - 1
19-11118637-G-C c.2061G>C p.K687N Missense 14/35 - 1
19-11118637-G-T c.2061G>T p.K687N Missense 14/35 - 1
19-11118638-AA-GC c.2062_2063delinsGC p.K688A Missense 14/35 - 1
19-11118639-A-C c.2063A>C p.K688T Missense 14/35 - 1
19-11118640-G-A c.2064G>A p.K688= Synonymous 14/35 - 1
19-11118632-GAGA-G c.2066_2068del p.K689del InFrameDeletion 14/35 - 2
19-11118643-G-C c.2067G>C p.K689N Missense 14/35 - 1
19-11118643-G-T c.2067G>T p.K689N Missense 14/35 - 1
19-11118644-A-G c.2068A>G p.I690V Missense 14/35 - 1
19-11118647-C-T c.2071C>T p.P691S Missense 14/35 - 1
19-11118648-C-T c.2072C>T p.P691L Missense 14/35 - 1
19-11118650-G-A c.2074G>A p.D692N Missense 14/35 - 1
19-11118653-C-T c.2077C>T p.P693S Missense 14/35 - 1
19-11118654-C-T c.2078C>T p.P693L Missense 14/35 - 1
19-11118656-G-C c.2080G>C p.D694H Missense 14/35 - 1
19-11118658-C-G c.2082C>G p.D694E Missense 14/35 - 1
19-11118658-C-A c.2082C>A p.D694E Missense 14/35 - 1
19-11118659-AGC-TGA c.2083_2085delinsTGA p.S695* Nonsense 14/35 - 1
19-11118659-AG-GC c.2083_2084delinsGC p.S695A Missense 14/35 - 1
19-11118659-AGC-GAG c.2083_2085delinsGAG p.S695E Missense 14/35 - 1
19-11118660-G-A c.2084G>A p.S695N Missense 14/35 - 1
19-11118662-G-A c.2086G>A p.D696N Missense 14/35 - 1
19-11118662-G-T c.2086G>T p.D696Y Missense 14/35 - 1
19-11118665-G-C c.2089G>C p.D697H Missense 14/35 - 1
19-11118668-G-A c.2092G>A p.V698I Missense 14/35 - 1
19-11118672-C-T c.2096C>T p.S699F Missense 14/35 - 1
19-11118674-G-A c.2098G>A p.E700K Missense 14/35 - 1
19-11118674-G-T c.2098G>T p.E700* Nonsense 14/35 - 1
19-11118675-A-T c.2099A>T p.E700V Missense 14/35 - 1
19-11118677-G-A c.2101G>A p.V701M Missense 14/35 - 1
19-11118681-A-G c.2105A>G p.D702G Missense 14/35 - 1
19-11118684-C-T c.2108C>T p.A703V Missense 14/35 - 1
19-11118686-C-T c.2110C>T p.R704W Missense 14/35 - 2
19-11118694-C-G c.2118C>G p.I706M Missense 14/35 - 1
19-11118698-G-A c.2122G>A p.E708K Missense 14/35 - 1
19-11118700-G-A c.2123+1G>A - IntronicSNV - 14/34 1
19-11121061-G-A c.2128G>A p.A710T Missense 15/35 - 1
19-11121062-C-T c.2129C>T p.A710V Missense 15/35 - 1
19-11121061-GC-G c.2130del p.K711Sfs*63 Frameshift 15/35 - 1
19-11121066-G-C c.2133G>C p.K711N Missense 15/35 - 1
19-11121066-G-T c.2133G>T p.K711N Missense 15/35 - 1
19-11121067-C-T c.2134C>T p.Q712* Nonsense 15/35 - 1
19-11121069-A-T c.2136A>T p.Q712H Missense 15/35 - 1
19-11121069-A-C c.2136A>C p.Q712H Missense 15/35 - 1
19-11121070-G-A c.2137G>A p.D713N Missense 15/35 - 1
19-11121076-G-A c.2143G>A p.D715N Missense 15/35 - 2
19-11121076-G-T c.2143G>T p.D715Y Missense 15/35 - 1
19-11121080-A-G c.2147A>G p.D716G Missense 15/35 - 1
19-11121082-G-T c.2149G>T p.E717* Nonsense 15/35 - 2
19-11121091-G-A c.2158G>A p.V720M Missense 15/35 - 2
19-11121095-C-T c.2162C>T p.S721F Missense 15/35 - 1
19-11121100-G-A c.2167G>A p.A723T Missense 15/35 - 1
19-11121109-C-T c.2176C>T p.R726C Missense 15/35 - 1
19-11121110-G-A c.2177G>A p.R726H Missense 15/35 - 3
19-11121110-G-T c.2177G>T p.R726L Missense 15/35 - 1
19-11121110-GT-AA c.2177_2178delinsAA p.R726Q Missense 15/35 - 1
19-11121112-G-A c.2179G>A p.G727S Missense 15/35 - 1
19-11121113-G-T c.2180G>T p.G727V Missense 15/35 - 1
19-11121115-C-A c.2182C>A p.L728M Missense 15/35 - 1
19-11121117-TGCAGTCCTACTATGCCGTGGCCC-T c.2184_2206del p.Q729Cfs*4 Frameshift 15/35 - 3
19-11121118-C-T c.2185C>T p.Q729* Nonsense 15/35 - 2
19-11121121-T-G c.2188T>G p.S730A Missense 15/35 - 1
19-11121122-C-T c.2189C>T p.S730F Missense 15/35 - 1
19-11121126-C-A c.2193C>A p.Y731* Nonsense 15/35 - 1
19-11121126-C-G c.2193C>G p.Y731* Nonsense 15/35 - 1
19-11121131-C-T c.2198C>T p.A733V Missense 15/35 - 1
19-11121133-G-C c.2200G>C p.V734L Missense 15/35 - 1
19-11121133-G-T c.2200G>T p.V734L Missense 15/35 - 1
19-11121133-G-A c.2200G>A p.V734M Missense 15/35 - 1
19-11121137-CC-AG c.2204_2205delinsAG p.A735E Missense 15/35 - 1
19-11121139-C-T c.2206C>T p.H736Y Missense 15/35 - 1
19-11121140-A-G c.2207A>G p.H736R Missense 15/35 - 2
19-11121151-G-T c.2218G>T p.E740* Nonsense 15/35 - 1
19-11121151-G-C c.2218G>C p.E740Q Missense 15/35 - 1
19-11121154-AGA-TGT c.2221_2223delinsTGT p.R741C Missense 15/35 - 1
19-11121154-AGA-CAT c.2221_2223delinsCAT p.R741H Missense 15/35 - 1
19-11121162-C-G c.2229C>G p.D743E Missense 15/35 - 1
19-11121163-A-T c.2230A>T p.K744* Nonsense 15/35 - 1
19-11121169-T-G c.2236T>G p.S746A Missense 15/35 - 1
19-11121170-C-T c.2237C>T p.S746L Missense 15/35 - 1
19-11121173-C-T c.2240C>T p.A747V Missense 15/35 - 1
19-11121175-C-T c.2242C>T p.L748F Missense 15/35 - 1
19-11121175-CT-GC c.2242_2243delinsGC p.L748A Missense 15/35 - 1
19-11121176-T-C c.2243T>C p.L748P Missense 15/35 - 1
19-11121181-G-T c.2248G>T p.V750F Missense 15/35 - 1
19-11121188-G-C c.2255G>C p.G752A Missense 15/35 - 1
19-11121193-C-T c.2260C>T p.L754F Missense 15/35 - 1
19-11121197-A-G c.2264A>G p.K755R Missense 15/35 - 1
19-11121199-C-T c.2266C>T p.Q756* Nonsense 15/35 - 2
19-11121202-T-G c.2269T>G p.Y757D Missense 15/35 - 1
19-11121205-CCAG-C c.2272_2274del p.Q758del InFrameDeletion 15/35 - 1
19-11121206-A-G c.2273A>G p.Q758R Missense 15/35 - 1
19-11121206-A-T c.2273A>T p.Q758L Missense 15/35 - 1
19-11121207-G-T c.2274G>T p.Q758H Missense 15/35 - 1
19-11121207-G-C c.2274G>C p.Q758H Missense 15/35 - 1
19-11121209-T-G c.2274+2T>G - IntronicSNV - 15/34 1
19-11123622-C-A c.2275-3C>A - IntronicSNV - 15/34 1
19-11123622-C-T c.2275-3C>T - IntronicSNV - 15/34 1
19-11123627-C-G c.2277C>G p.I759M Missense 16/35 - 1
19-11123631-G-C c.2281G>C p.G761R Missense 16/35 - 1
19-11123631-G-A c.2281G>A p.G761S Missense 16/35 - 1
19-11123637-G-T c.2287G>T p.E763* Nonsense 16/35 - 2
19-11123639-G-C c.2289G>C p.E763D Missense 16/35 - 1
19-11123639-G-T c.2289G>T p.E763D Missense 16/35 - 1
19-11123640-T-C c.2290T>C p.W764R Missense 16/35 - 3
19-11123640-T-A c.2290T>A p.W764R Missense 16/35 - 4
19-11123641-G-A c.2291G>A p.W764* Nonsense 16/35 - 1
19-11123642-G-A c.2292G>A p.W764* Nonsense 16/35 - 1
19-11123641-G-T c.2291G>T p.W764L Missense 16/35 - 1
19-11123642-GCTGGTGTCCCTGTACAACAACAA-G c.2294_2316del p.L765Pfs*51 Frameshift 16/35 - 1
19-11123647-T-A c.2297T>A p.V766E Missense 16/35 - 1
19-11123649-T-C c.2299T>C p.S767P Missense 16/35 - 1
19-11123650-C-T c.2300C>T p.S767F Missense 16/35 - 2
19-11123652-C-A c.2302C>A p.L768M Missense 16/35 - 1
19-11123654-G-T c.2304G>T p.L768= Synonymous 16/35 - 1
19-11123654-G-A c.2304G>A p.L768= Synonymous 16/35 - 1
19-11123654-G-C c.2304G>C p.L768= Synonymous 16/35 - 1
19-11123652-C-T c.2302C>T p.L768= Synonymous 16/35 - 1
19-11123655-TACAACA-T c.2311_2316del p.N771_N772del InFrameDeletion 16/35 - 1
19-11123661-A-G c.2311A>G p.N771D Missense 16/35 - 1
19-11123664-A-C c.2314A>C p.N772H Missense 16/35 - 2
19-11123655-TACA-T c.2314_2316del p.N772del InFrameDeletion 16/35 - 1
19-11123671-A-T c.2321A>T p.N774I Missense 16/35 - 1
19-11123672-AC-A c.2322del p.N774Kfs*57 Frameshift 16/35 - 1
19-11123672-C-T c.2322C>T p.N774= Synonymous 16/35 - 1
19-11123673-G-A c.2323G>A p.G775S Missense 16/35 - 2
19-11123673-G-C c.2323G>C p.G775R Missense 16/35 - 1
19-11123674-G-T c.2324G>T p.G775V Missense 16/35 - 1
19-11123674-G-A c.2324G>A p.G775D Missense 16/35 - 2
19-11123685-G-A c.2335G>A p.D779N Missense 16/35 - 1
19-11123685-G-T c.2335G>T p.D779Y Missense 16/35 - 2
19-11123688-G-A c.2338G>A p.E780K Missense 16/35 - 2
19-11123688-G-T c.2338G>T p.E780* Nonsense 16/35 - 1
19-11123691-A-G c.2341A>G p.M781V Missense 16/35 - 1
19-11123693-G-C c.2343G>C p.M781I Missense 16/35 - 2
19-11123693-G-A c.2343G>A p.M781I Missense 16/35 - 1
19-11123693-G-T c.2343G>T p.M781I Missense 16/35 - 1
19-11123694-G-C c.2344G>C p.G782R Missense 16/35 - 1
19-11123694-G-A c.2344G>A p.G782S Missense 16/35 - 2
19-11123694-G-T c.2344G>T p.G782C Missense 16/35 - 1
19-11123695-G-A c.2345G>A p.G782D Missense 16/35 - 1
19-11123698-T-C c.2348T>C p.L783P Missense 16/35 - 2
19-11123698-T-G c.2348T>G p.L783R Missense 16/35 - 1
19-11123700-G-A c.2350G>A p.G784R Missense 16/35 - 2
19-11123700-G-T c.2350G>T p.G784W Missense 16/35 - 1
19-11123701-G-A c.2351G>A p.G784E Missense 16/35 - 3
19-11123701-G-C c.2351G>C p.G784A Missense 16/35 - 1
19-11123698-T-TG c.2352dup p.K785Efs*39 Frameshift 16/35 - 1
19-11123703-AA-GC c.2353_2354delinsGC p.K785A Missense 16/35 - 3
19-11123704-A-G c.2354A>G p.K785R Missense 16/35 - 20
19-11123705-G-C c.2355G>C p.K785N Missense 16/35 - 1
19-11123705-G-T c.2355G>T p.K785N Missense 16/35 - 1
19-11123706-A-G c.2356A>G p.T786A Missense 16/35 - 2
19-11123707-C-T c.2357C>T p.T786I Missense 16/35 - 4
19-11123707-C-A c.2357C>A p.T786N Missense 16/35 - 3
19-11123707-C-G c.2357C>G p.T786S Missense 16/35 - 1
19-11123706-A-T c.2356A>T p.T786S Missense 16/35 - 1
19-11123709-A-G c.2359A>G p.I787V Missense 16/35 - 1
19-11123710-T-G c.2360T>G p.I787S Missense 16/35 - 1
19-11123711-C-G c.2361C>G p.I787M Missense 16/35 - 1
19-11123712-C-T c.2362C>T p.Q788* Nonsense 16/35 - 3
19-11123716-C-T c.2366C>T p.T789I Missense 16/35 - 1
19-11123719-T-C c.2369T>C p.I790T Missense 16/35 - 1
19-11123721-G-A c.2371G>A p.A791T Missense 16/35 - 2
19-11123722-C-T c.2372C>T p.A791V Missense 16/35 - 2
19-11123730-A-G c.2380A>G p.T794A Missense 16/35 - 1
19-11123731-C-T c.2381C>T p.T794M Missense 16/35 - 3
19-11123731-C-G c.2381C>G p.T794R Missense 16/35 - 1
19-11123732-G-A c.2382G>A p.T794= Synonymous 16/35 - 1
19-11123733-T-C c.2383T>C p.Y795H Missense 16/35 - 1
19-11123736-C-G c.2386C>G p.L796V Missense 16/35 - 1
19-11123739-A-C c.2389A>C p.M797L Missense 16/35 - 2
19-11123739-A-T c.2389A>T p.M797L Missense 16/35 - 1
19-11123742-G-A c.2392G>A p.E798K Missense 16/35 - 1
19-11123744-AG-A c.2394del p.E798Dfs*33 Frameshift 16/35 - 1
19-11123748-A-T c.2398A>T p.K800* Nonsense 16/35 - 1
19-11123752-G-A c.2402G>A p.R801H Missense 16/35 - 5
19-11123756-C-G c.2406C>G p.I802M Missense 16/35 - 1
19-11123761-G-T c.2411G>T p.G804V Missense 16/35 - 1
19-11123764-C-T c.2414C>T p.P805L Missense 16/35 - 1
19-11123766-T-G c.2416T>G p.F806V Missense 16/35 - 1
19-11123768-C-T c.2418C>T p.F806= Synonymous 16/35 - 1
19-11123769-C-T c.2419C>T p.L807F Missense 16/35 - 1
19-11123766-TTCC-T c.2419_2421del p.L807del InFrameDeletion 16/35 - 1
19-11123772-A-G c.2422A>G p.I808V Missense 16/35 - 1
19-11123778-G-A c.2428G>A p.V810M Missense 16/35 - 1
19-11123782-C-G c.2432C>G p.P811R Missense 16/35 - 1
19-11123782-C-T c.2432C>T p.P811L Missense 16/35 - 1
19-11123784-C-T c.2434C>T p.L812F Missense 16/35 - 2
19-11123788-C-T c.2438C>T p.S813L Missense 16/35 - 5
19-11123789-G-A c.2438+1G>A - IntronicSNV - 16/34 3
19-11123789-G-T c.2438+1G>T - IntronicSNV - 16/34 1
19-11128596-A-G c.2439-1037A>G - IntronicSNV - 16/34 1
19-11129634-A-G c.2440A>G p.T814A Missense 17/35 - 1
19-11129635-C-G c.2441C>G p.T814R Missense 17/35 - 2
19-11129635-C-T c.2441C>T p.T814M Missense 17/35 - 2
19-11129636-G-T c.2442G>T p.T814= Synonymous 17/35 - 1
19-11129636-G-C c.2442G>C p.T814= Synonymous 17/35 - 1
19-11129636-G-A c.2442G>A p.T814= Synonymous 17/35 - 1
19-11129638-T-C c.2444T>C p.L815P Missense 17/35 - 3
19-11129644-A-G c.2450A>G p.N817S Missense 17/35 - 1
19-11129646-T-A c.2452T>A p.W818R Missense 17/35 - 1
19-11129649-G-A c.2455G>A p.A819T Missense 17/35 - 1
19-11129650-C-T c.2456C>T p.A819V Missense 17/35 - 1
19-11129652-T-A c.2458T>A p.Y820N Missense 17/35 - 1
19-11129652-T-G c.2458T>G p.Y820D Missense 17/35 - 1
19-11129654-C-G c.2460C>G p.Y820* Nonsense 17/35 - 2
19-11129654-C-A c.2460C>A p.Y820* Nonsense 17/35 - 1
19-11129655-G-A c.2461G>A p.E821K Missense 17/35 - 7
19-11129656-A-G c.2462A>G p.E821G Missense 17/35 - 1
19-11129663-C-G c.2469C>G p.D823E Missense 17/35 - 1
19-11129663-C-A c.2469C>A p.D823E Missense 17/35 - 1
19-11129665-A-G c.2471A>G p.K824R Missense 17/35 - 1
19-11129668-G-T c.2474G>T p.W825L Missense 17/35 - 1
19-11129670-G-A c.2476G>A p.A826T Missense 17/35 - 1
19-11129670-G-T c.2476G>T p.A826S Missense 17/35 - 1
19-11129671-C-T c.2477C>T p.A826V Missense 17/35 - 1
19-11129674-C-T c.2480C>T p.P827L Missense 17/35 - 3
19-11129677-C-T c.2483C>T p.S828F Missense 17/35 - 1
19-11129679-G-A c.2485G>A p.V829M Missense 17/35 - 2
19-11129678-CGTG-C c.2488_2490del p.V830del InFrameDeletion 17/35 - 1
19-11129688-G-C c.2494G>C p.V832L Missense 17/35 - 1
19-11129696-C-CT c.2502_2503insT p.K835* Nonsense 17/35 - 1
19-11129696-C-A c.2502C>A p.Y834* Nonsense 17/35 - 1
19-11129696-C-G c.2502C>G p.Y834* Nonsense 17/35 - 1
19-11129694-TACAAGGTAGGTC-T c.2504_2505+10del - SpliceDonorDeletion 17/35 17/34 1
19-11129700-G-A c.2505+1G>A - IntronicSNV - 17/34 1
19-11130267-G-T c.2506G>T p.G836* Nonsense 18/35 - 3
19-11130267-G-A c.2506G>A p.G836R Missense 18/35 - 2
19-11130268-G-A c.2507G>A p.G836E Missense 18/35 - 2
19-11130271-C-T c.2510C>T p.S837F Missense 18/35 - 1
19-11130273-C-T c.2512C>T p.P838S Missense 18/35 - 1
19-11130274-C-T c.2513C>T p.P838L Missense 18/35 - 1
19-11130279-G-A c.2518G>A p.A840T Missense 18/35 - 1
19-11130285-C-T c.2524C>T p.R842W Missense 18/35 - 3
19-11130286-G-A c.2525G>A p.R842Q Missense 18/35 - 3
19-11130289-C-T c.2528C>T p.A843V Missense 18/35 - 1
19-11130291-T-G c.2530T>G p.F844V Missense 18/35 - 1
19-11130291-T-C c.2530T>C p.F844L Missense 18/35 - 1
19-11130293-T-A c.2532T>A p.F844L Missense 18/35 - 1
19-11130293-T-G c.2532T>G p.F844L Missense 18/35 - 1
19-11130290-CTT-C c.2531_2532del p.F844Cfs*100 Frameshift 18/35 - 1
19-11130297-C-T c.2536C>T p.P846S Missense 18/35 - 1
19-11130298-C-T c.2537C>T p.P846L Missense 18/35 - 1
19-11130300-C-T c.2539C>T p.Q847* Nonsense 18/35 - 1
19-11130301-A-T c.2540A>T p.Q847L Missense 18/35 - 1
19-11130302-AG-A c.2541del p.Q847Hfs*11 Frameshift 18/35 - 1
19-11130306-C-T c.2545C>T p.R849W Missense 18/35 - 3
19-11130307-G-A c.2546G>A p.R849Q Missense 18/35 - 2
19-11130312-G-A c.2551G>A p.G851R Missense 18/35 - 1
19-11130312-G-C c.2551G>C p.G851R Missense 18/35 - 1
19-11130316-A-G c.2555A>G p.K852R Missense 18/35 - 1
19-11130318-T-C c.2557T>C p.F853L Missense 18/35 - 2
19-11130320-C-A c.2559C>A p.F853L Missense 18/35 - 1
19-11130320-C-G c.2559C>G p.F853L Missense 18/35 - 1
19-11130321-A-T c.2560A>T p.N854Y Missense 18/35 - 1
19-11130324-G-A c.2563G>A p.V855I Missense 18/35 - 1
19-11130331-T-C c.2570T>C p.L857P Missense 18/35 - 1
19-11130334-C-A c.2573C>A p.T858K Missense 18/35 - 1
19-11130334-C-T c.2573C>T p.T858M Missense 18/35 - 3
19-11130334-C-G c.2573C>G p.T858R Missense 18/35 - 1
19-11130337-C-T c.2576C>T p.T859M Missense 18/35 - 3
19-11130339-T-C c.2578T>C p.Y860H Missense 18/35 - 2
19-11130340-A-G c.2579A>G p.Y860C Missense 18/35 - 1
19-11130340-A-T c.2579A>T p.Y860F Missense 18/35 - 1
19-11130342-G-A c.2581G>A p.E861K Missense 18/35 - 3
19-11130345-T-C c.2584T>C p.Y862H Missense 18/35 - 1
19-11130346-A-G c.2585A>G p.Y862C Missense 18/35 - 1
19-11130347-C-A c.2586C>A p.Y862* Nonsense 18/35 - 1
19-11130347-C-G c.2586C>G p.Y862* Nonsense 18/35 - 1
19-11130348-A-G c.2587A>G p.I863V Missense 18/35 - 1
19-11130349-T-C c.2588T>C p.I863T Missense 18/35 - 1
19-11130354-A-G c.2593A>G p.K865E Missense 18/35 - 1
19-11130357-G-A c.2596G>A p.D866N Missense 18/35 - 1
19-11130360-A-T c.2599A>T p.K867* Nonsense 18/35 - 1
19-11130366-A-G c.2605A>G p.I869V Missense 18/35 - 1
19-11130369-C-A c.2608C>A p.L870I Missense 18/35 - 1
19-11130372-G-A c.2611G>A p.A871T Missense 18/35 - 1
19-11130372-G-T c.2611G>T p.A871S Missense 18/35 - 2
19-11130375-A-G c.2614A>G p.K872E Missense 18/35 - 1
19-11130377-G-C c.2616G>C p.K872N Missense 18/35 - 1
19-11130377-G-T c.2616G>T p.K872N Missense 18/35 - 1
19-11132080-G-A c.2617-321G>A - IntronicSNV - 18/34 6
19-11132291-G-A c.2617-110G>A - IntronicSNV - 18/34 1
19-11132404-C-T c.2620C>T p.R874C Missense 19/35 - 4
19-11132405-G-A c.2621G>A p.R874H Missense 19/35 - 2
19-11132408-G-A c.2624G>A p.W875* Nonsense 19/35 - 1
19-11132409-G-A c.2625G>A p.W875* Nonsense 19/35 - 1
19-11132409-G-GT c.2625_2626insT p.K876* Nonsense 19/35 - 1
19-11132414-A-C c.2630A>C p.Y877S Missense 19/35 - 1
19-11132425-G-A c.2641G>A p.D881N Missense 19/35 - 2
19-11132425-G-T c.2641G>T p.D881Y Missense 19/35 - 1
19-11132426-A-G c.2642A>G p.D881G Missense 19/35 - 1
19-11132427-C-G c.2643C>G p.D881E Missense 19/35 - 1
19-11132427-C-A c.2643C>A p.D881E Missense 19/35 - 1
19-11132428-G-A c.2644G>A p.E882K Missense 19/35 - 6
19-11132428-G-T c.2644G>T p.E882* Nonsense 19/35 - 1
19-11132428-G-C c.2644G>C p.E882Q Missense 19/35 - 1
19-11132429-A-G c.2645A>G p.E882G Missense 19/35 - 2
19-11132430-A-C c.2646A>C p.E882D Missense 19/35 - 3
19-11132430-A-T c.2646A>T p.E882D Missense 19/35 - 2
19-11132431-G-A c.2647G>A p.G883S Missense 19/35 - 1
19-11132431-G-T c.2647G>T p.G883C Missense 19/35 - 1
19-11132431-G-C c.2647G>C p.G883R Missense 19/35 - 1
19-11132430-AG-A c.2648del p.G883Vfs*4 Frameshift 19/35 - 1
19-11132432-G-A c.2648G>A p.G883D Missense 19/35 - 1
19-11132434-C-T c.2650C>T p.H884Y Missense 19/35 - 3
19-11132434-C-A c.2650C>A p.H884N Missense 19/35 - 1
19-11132434-C-G c.2650C>G p.H884D Missense 19/35 - 1
19-11132435-A-G c.2651A>G p.H884R Missense 19/35 - 2
19-11132435-A-T c.2651A>T p.H884L Missense 19/35 - 1
19-11132437-C-T c.2653C>T p.R885C Missense 19/35 - 8
19-11132437-C-A c.2653C>A p.R885S Missense 19/35 - 1
19-11132438-G-A c.2654G>A p.R885H Missense 19/35 - 7
19-11132438-G-T c.2654G>T p.R885L Missense 19/35 - 1
19-11132434-CACCGCATGAAGA-C c.2654_2665del p.R885_N888del InFrameDeletion 19/35 - 1
19-11132440-A-G c.2656A>G p.M886V Missense 19/35 - 2
19-11132441-T-C c.2657T>C p.M886T Missense 19/35 - 1
19-11132442-G-C c.2658G>C p.M886I Missense 19/35 - 1
19-11132442-G-A c.2658G>A p.M886I Missense 19/35 - 1
19-11132442-G-T c.2658G>T p.M886I Missense 19/35 - 1
19-11132445-G-A c.2661G>A p.K887= Synonymous 19/35 - 1
19-11132456-G-A c.2672G>A p.C891Y Missense 19/35 - 1
19-11132458-A-T c.2674A>T p.K892* Nonsense 19/35 - 1
19-11132459-AGCT-A c.2677_2679del p.L893del InFrameDeletion 19/35 - 1
19-11132462-T-G c.2678T>G p.L893R Missense 19/35 - 2
19-11132462-T-C c.2678T>C p.L893P Missense 19/35 - 1
19-11132465-C-T c.2681C>T p.T894M Missense 19/35 - 5
19-11132467-C-T c.2683C>T p.Q895* Nonsense 19/35 - 1
19-11132469-G-T c.2685G>T p.Q895H Missense 19/35 - 1
19-11132469-G-C c.2685G>C p.Q895H Missense 19/35 - 1
19-11132473-C-T c.2689C>T p.L897F Missense 19/35 - 1
19-11132474-T-C c.2690T>C p.L897P Missense 19/35 - 1
19-11132476-A-C c.2692A>C p.N898H Missense 19/35 - 1
19-11132480-C-T c.2696C>T p.T899M Missense 19/35 - 1
19-11132486-A-G c.2702A>G p.Y901C Missense 19/35 - 1
19-11132493-A-G c.2709A>G p.A903= Synonymous 19/35 - 1
19-11132497-C-T c.2713C>T p.R905C Missense 19/35 - 3
19-11132497-C-A c.2713C>A p.R905S Missense 19/35 - 1
19-11132498-G-A c.2714G>A p.R905H Missense 19/35 - 1
19-11132500-C-T c.2716C>T p.R906C Missense 19/35 - 2
19-11132501-G-T c.2717G>T p.R906L Missense 19/35 - 1
19-11132501-G-A c.2717G>A p.R906H Missense 19/35 - 2
19-11132510-T-C c.2726T>C p.L909P Missense 19/35 - 1
19-11132513-C-T c.2729C>T p.T910M Missense 19/35 - 36
19-11132515-G-A c.2731G>A p.G911S Missense 19/35 - 2
19-11132515-G-T c.2731G>T p.G911C Missense 19/35 - 1
19-11132516-G-A c.2732G>A p.G911D Missense 19/35 - 1
19-11132516-G-T c.2732G>T p.G911V Missense 19/35 - 1
19-11132518-A-T c.2734A>T p.T912S Missense 19/35 - 1
19-11132519-C-T c.2735C>T p.T912I Missense 19/35 - 1
19-11132521-C-T c.2737C>T p.P913S Missense 19/35 - 2
19-11132522-C-T c.2738C>T p.P913L Missense 19/35 - 6
19-11132529-G-T c.2745G>T p.Q915H Missense 19/35 - 2
19-11132529-G-C c.2745G>C p.Q915H Missense 19/35 - 2
19-11132531-A-G c.2747A>G p.N916S Missense 19/35 - 3
19-11132533-A-T c.2749A>T p.K917* Nonsense 19/35 - 1
19-11132539-C-T c.2755C>T p.P919S Missense 19/35 - 1
19-11132540-C-T c.2756C>T p.P919L Missense 19/35 - 1
19-11132542-G-A c.2758G>A p.E920K Missense 19/35 - 6
19-11132542-G-T c.2758G>T p.E920* Nonsense 19/35 - 1
19-11132545-C-T c.2761C>T p.L921F Missense 19/35 - 4
19-11132546-T-G c.2762T>G p.L921R Missense 19/35 - 1
19-11132549-G-A c.2765G>A p.W922* Nonsense 19/35 - 2
19-11132550-G-A c.2766G>A p.W922* Nonsense 19/35 - 3
19-11132549-G-T c.2765G>T p.W922L Missense 19/35 - 1
19-11132550-G-T c.2766G>T p.W922C Missense 19/35 - 1
19-11132550-G-C c.2766G>C p.W922C Missense 19/35 - 1
19-11132552-C-T c.2768C>T p.A923V Missense 19/35 - 3
19-11132555-T-A c.2771T>A p.L924Q Missense 19/35 - 1
19-11132557-C-T c.2773C>T p.L925F Missense 19/35 - 1
19-11132562-C-G c.2778C>G p.N926K Missense 19/35 - 1
19-11132562-C-A c.2778C>A p.N926K Missense 19/35 - 1
19-11132563-T-G c.2779T>G p.F927V Missense 19/35 - 1
19-11132567-T-C c.2783T>C p.L928P Missense 19/35 - 1
19-11132572-C-T c.2788C>T p.P930S Missense 19/35 - 1
19-11132573-C-T c.2789C>T p.P930L Missense 19/35 - 1
19-11132575-A-G c.2791A>G p.T931A Missense 19/35 - 1
19-11132576-C-T c.2792C>T p.T931I Missense 19/35 - 1
19-11132581-T-C c.2797T>C p.F933L Missense 19/35 - 1
19-11132583-C-A c.2799C>A p.F933L Missense 19/35 - 1
19-11132583-C-G c.2799C>G p.F933L Missense 19/35 - 1
19-11132586-G-C c.2802G>C p.K934N Missense 19/35 - 1
19-11132586-G-T c.2802G>T p.K934N Missense 19/35 - 1
19-11132587-A-T c.2803A>T p.S935C Missense 19/35 - 1
19-11132590-T-A c.2806T>A p.C936S Missense 19/35 - 1
19-11132594-G-A c.2810G>A p.S937N Missense 19/35 - 1
19-11132597-C-T c.2813C>T p.T938I Missense 19/35 - 1
19-11132599-T-C c.2815T>C p.F939L Missense 19/35 - 1
19-11132601-C-A c.2817C>A p.F939L Missense 19/35 - 1
19-11132601-C-G c.2817C>G p.F939L Missense 19/35 - 1
19-11132602-G-T c.2818G>T p.E940* Nonsense 19/35 - 1
19-11132604-G-C c.2820G>C p.E940D Missense 19/35 - 1
19-11132604-G-T c.2820G>T p.E940D Missense 19/35 - 1
19-11132605-C-T c.2821C>T p.Q941* Nonsense 19/35 - 2
19-11132608-T-C c.2824T>C p.W942R Missense 19/35 - 1
19-11132609-G-A c.2825G>A p.W942* Nonsense 19/35 - 1
19-11132610-G-A c.2826G>A p.W942* Nonsense 19/35 - 1
19-11132612-T-C c.2828T>C p.F943S Missense 19/35 - 1
19-11132612-T-G c.2828T>G p.F943C Missense 19/35 - 1
19-11132617-G-A c.2833G>A p.A945T Missense 19/35 - 2
19-11132620-C-T c.2836C>T p.P946S Missense 19/35 - 1
19-11132621-C-T c.2837C>T p.P946L Missense 19/35 - 1
19-11132622-CT-C c.2841del p.F947Lfs*3 Frameshift 19/35 - 1
19-11132626-G-C c.2842G>C p.A948P Missense 19/35 - 1
19-11132626-G-A c.2842G>A p.A948T Missense 19/35 - 1
19-11132627-C-T c.2843C>T p.A948V Missense 19/35 - 1
19-11132630-T-C c.2846T>C p.M949T Missense 19/35 - 1
19-11132633-C-T c.2849C>T p.T950I Missense 19/35 - 1
19-11132635-G-A c.2851G>A p.G951R Missense 19/35 - 1
19-11132636-G-T c.2852G>T p.G951V Missense 19/35 - 1
19-11132637-G-GT c.2853_2854insT p.E952* Nonsense 19/35 - 3
19-11132638-G-T c.2854G>T p.E952* Nonsense 19/35 - 1
19-11132641-A-G c.2857A>G p.K953E Missense 19/35 - 1
19-11132643-G-C c.2859G>C p.K953N Missense 19/35 - 1
19-11132643-G-T c.2859G>T p.K953N Missense 19/35 - 1
19-11132644-G-C c.2859+1G>C - IntronicSNV - 19/34 3
19-11132644-G-A c.2859+1G>A - IntronicSNV - 19/34 2
19-11134090-A-G c.2860-104A>G - IntronicSNV - 19/34 1
19-11134207-A-G c.2873A>G p.E958G Missense 20/35 - 1
19-11134207-A-C c.2873A>C p.E958A Missense 20/35 - 1
19-11134209-G-T c.2875G>T p.E959* Nonsense 20/35 - 1
19-11134216-C-T c.2882C>T p.T961I Missense 20/35 - 1
19-11134219-T-C c.2885T>C p.I962T Missense 20/35 - 1
19-11134219-T-A c.2885T>A p.I962N Missense 20/35 - 1
19-11134221-C-G c.2887C>G p.L963V Missense 20/35 - 1
19-11134221-CTCA-C c.2893_2895del p.I965del InFrameDeletion 20/35 - 1
19-11134230-C-T c.2896C>T p.R966W Missense 20/35 - 2
19-11134231-G-T c.2897G>T p.R966L Missense 20/35 - 1
19-11134233-C-T c.2899C>T p.R967C Missense 20/35 - 1
19-11134234-G-A c.2900G>A p.R967H Missense 20/35 - 2
19-11134236-C-T c.2902C>T p.L968F Missense 20/35 - 2
19-11134237-T-G c.2903T>G p.L968R Missense 20/35 - 1
19-11134239-C-T c.2905C>T p.H969Y Missense 20/35 - 2
19-11134239-C-A c.2905C>A p.H969N Missense 20/35 - 1
19-11134240-A-T c.2906A>T p.H969L Missense 20/35 - 1
19-11134240-A-G c.2906A>G p.H969R Missense 20/35 - 1
19-11134246-T-G c.2912T>G p.V971G Missense 20/35 - 1
19-11134249-T-C c.2915T>C p.L972P Missense 20/35 - 1
19-11134251-C-T c.2917C>T p.R973W Missense 20/35 - 4
19-11134251-C-G c.2917C>G p.R973G Missense 20/35 - 1
19-11134251-CG-AC c.2917_2918delinsAC p.R973T Missense 20/35 - 1
19-11134252-G-A c.2918G>A p.R973Q Missense 20/35 - 2
19-11134252-G-T c.2918G>T p.R973L Missense 20/35 - 1
19-11134252-G-C c.2918G>C p.R973P Missense 20/35 - 1
19-11134254-C-T c.2920C>T p.P974S Missense 20/35 - 1
19-11134254-CC-TT c.2920_2921delinsTT p.P974F Missense 20/35 - 1
19-11134255-C-T c.2921C>T p.P974L Missense 20/35 - 1
19-11134253-GC-G c.2922del p.F975Sfs*44 Frameshift 20/35 - 1
19-11134257-T-C c.2923T>C p.F975L Missense 20/35 - 1
19-11134259-C-A c.2925C>A p.F975L Missense 20/35 - 1
19-11134259-C-G c.2925C>G p.F975L Missense 20/35 - 1
19-11134261-T-G c.2927T>G p.L976W Missense 20/35 - 1
19-11134262-G-T c.2928G>T p.L976F Missense 20/35 - 1
19-11134262-G-C c.2928G>C p.L976F Missense 20/35 - 1
19-11134266-C-T c.2932C>T p.R978* Nonsense 20/35 - 5
19-11134266-C-G c.2932C>G p.R978G Missense 20/35 - 3
19-11134267-G-A c.2933G>A p.R978Q Missense 20/35 - 10
19-11134267-G-T c.2933G>T p.R978L Missense 20/35 - 1
19-11134269-C-T c.2935C>T p.R979* Nonsense 20/35 - 11
19-11134270-G-A c.2936G>A p.R979Q Missense 20/35 - 5
19-11134270-G-C c.2936G>C p.R979P Missense 20/35 - 1
19-11134270-G-T c.2936G>T p.R979L Missense 20/35 - 2
19-11134275-A-G c.2941A>G p.K981E Missense 20/35 - 1
19-11134276-A-C c.2942A>C p.K981T Missense 20/35 - 1
19-11134276-A-T c.2942A>T p.K981M Missense 20/35 - 1
19-11134277-G-A c.2943G>A p.K981= Synonymous 20/35 - 1
19-11134277-G-T c.2943G>T p.K981N Missense 20/35 - 2
19-11134277-G-C c.2943G>C p.K981N Missense 20/35 - 1
19-11134281-G-T c.2947G>T p.E983* Nonsense 20/35 - 1
19-11134286-C-A c.2952C>A p.V984= Synonymous 20/35 - 1
19-11134286-C-G c.2952C>G p.V984= Synonymous 20/35 - 1
19-11134286-C-T c.2952C>T p.V984= Synonymous 20/35 - 1
19-11134287-G-A c.2953G>A p.E985K Missense 20/35 - 2
19-11134289-G-C c.2955G>C p.E985D Missense 20/35 - 1
19-11134289-G-T c.2955G>T p.E985D Missense 20/35 - 1
19-11134293-C-T c.2959C>T p.Q987* Nonsense 20/35 - 1
19-11134294-CAGTTGCCCGAAAAGGT-C c.2960_2973+2del - SpliceDonorDeletion 20/35 20/34 1
19-11134295-G-T c.2961G>T p.Q987H Missense 20/35 - 1
19-11134295-G-C c.2961G>C p.Q987H Missense 20/35 - 1
19-11134302-G-A c.2968G>A p.E990K Missense 20/35 - 1
19-11134302-G-T c.2968G>T p.E990* Nonsense 20/35 - 1
19-11134306-AG-TC c.2972_2973delinsTC p.K991I Missense 20/35 - 1
19-11134308-G-A c.2973+1G>A - IntronicSNV - 20/34 1
19-11135008-T-C c.2975T>C p.V992A Missense 21/35 - 1
19-11135010-G-C c.2977G>C p.E993Q Missense 21/35 - 1
19-11135016-G-A c.2983G>A p.V995I Missense 21/35 - 1
19-11135016-G-T c.2983G>T p.V995F Missense 21/35 - 1
19-11135016-G-C c.2983G>C p.V995L Missense 21/35 - 1
19-11135020-T-C c.2987T>C p.I996T Missense 21/35 - 1
19-11135021-C-G c.2988C>G p.I996M Missense 21/35 - 1
19-11135026-G-A c.2993G>A p.C998Y Missense 21/35 - 2
19-11135026-G-T c.2993G>T p.C998F Missense 21/35 - 1
19-11135027-C-T c.2994C>T p.C998= Synonymous 21/35 - 1
19-11135028-G-A c.2995G>A p.D999N Missense 21/35 - 1
19-11135031-A-G c.2998A>G p.M1000V Missense 21/35 - 1
19-11135038-C-T c.3005C>T p.A1002V Missense 21/35 - 1
19-11135043-C-T c.3010C>T p.Q1004* Nonsense 21/35 - 2
19-11135044-A-T c.3011A>T p.Q1004L Missense 21/35 - 1
19-11135046-C-T c.3013C>T p.R1005* Nonsense 21/35 - 4
19-11135047-G-A c.3014G>A p.R1005Q Missense 21/35 - 2
19-11135050-T-G c.3017T>G p.V1006G Missense 21/35 - 1
19-11135052-C-T c.3019C>T p.L1007F Missense 21/35 - 1
19-11135056-A-T c.3023A>T p.Y1008F Missense 21/35 - 1
19-11135058-C-T c.3025C>T p.R1009C Missense 21/35 - 1
19-11135059-G-A c.3026G>A p.R1009H Missense 21/35 - 1
19-11135061-C-G c.3028C>G p.H1010D Missense 21/35 - 1
19-11135058-CGCCACATGCAG-C c.3030_3040del p.H1010Qfs*7 Frameshift 21/35 - 1
19-11135064-CA-C c.3031del p.M1011Cfs*8 Frameshift 21/35 - 1
19-11135064-A-G c.3031A>G p.M1011V Missense 21/35 - 1
19-11135065-T-C c.3032T>C p.M1011T Missense 21/35 - 1
19-11135067-C-T c.3034C>T p.Q1012* Nonsense 21/35 - 1
19-11135073-A-T c.3040A>T p.K1014* Nonsense 21/35 - 1
19-11135076-GG-TT c.3043_3044delinsTT p.G1015F Missense 21/35 - 1
19-11135079-G-A c.3046G>A p.V1016M Missense 21/35 - 1
19-11135081-G-A c.3048G>A p.V1016= Synonymous 21/35 - 1
19-11135081-G-C c.3048G>C p.V1016= Synonymous 21/35 - 1
19-11135081-G-T c.3048G>T p.V1016= Synonymous 21/35 - 1
19-11135091-G-T c.3058G>T p.D1020Y Missense 21/35 - 2
19-11135091-G-C c.3058G>C p.D1020H Missense 21/35 - 1
19-11135091-G-A c.3058G>A p.D1020N Missense 21/35 - 1
19-11135094-G-A c.3061G>A p.G1021S Missense 21/35 - 1
19-11135095-G-A c.3062G>A p.G1021D Missense 21/35 - 1
19-11135098-C-T c.3065C>T p.S1022F Missense 21/35 - 2
19-11135098-C-G c.3065C>G p.S1022C Missense 21/35 - 1
19-11135100-G-T c.3067G>T p.E1023* Nonsense 21/35 - 3
19-11135100-G-A c.3067G>A p.E1023K Missense 21/35 - 2
19-11135102-G-GT c.3069_3070insT p.K1024* Nonsense 21/35 - 1
19-11135103-A-G c.3070A>G p.K1024E Missense 21/35 - 1
19-11135103-A-T c.3070A>T p.K1024* Nonsense 21/35 - 1
19-11135106-G-A c.3073G>A p.D1025N Missense 21/35 - 1
19-11135106-G-T c.3073G>T p.D1025Y Missense 21/35 - 1
19-11135107-A-T c.3074A>T p.D1025V Missense 21/35 - 1
19-11135110-A-C c.3077A>C p.K1026T Missense 21/35 - 1
19-11135111-G-C c.3078G>C p.K1026N Missense 21/35 - 1
19-11135111-G-T c.3078G>T p.K1026N Missense 21/35 - 1
19-11135111-GA-G c.3080del p.K1027Rfs*9 Frameshift 21/35 - 1
19-11135115-G-T c.3081+1G>T - IntronicSNV - 21/34 1
19-11136098-G-T c.3082G>T p.G1028C Missense 22/35 - 1
19-11136099-G-A c.3083G>A p.G1028D Missense 22/35 - 1
19-11136099-G-T c.3083G>T p.G1028V Missense 22/35 - 1
19-11136102-A-G c.3086A>G p.K1029R Missense 22/35 - 2
19-11136104-G-A c.3088G>A p.G1030S Missense 22/35 - 1
19-11136108-G-A c.3092G>A p.G1031D Missense 22/35 - 1
19-11136114-A-G c.3098A>G p.K1033R Missense 22/35 - 1
19-11136115-G-C c.3099G>C p.K1033N Missense 22/35 - 1
19-11136115-G-T c.3099G>T p.K1033N Missense 22/35 - 1
19-11136117-C-T c.3101C>T p.T1034I Missense 22/35 - 1
19-11136118-C-A c.3102C>A p.T1034= Synonymous 22/35 - 1
19-11136118-C-G c.3102C>G p.T1034= Synonymous 22/35 - 1
19-11136118-C-T c.3102C>T p.T1034= Synonymous 22/35 - 1
19-11136120-T-C c.3104T>C p.L1035P Missense 22/35 - 1
19-11136124-G-T c.3108G>T p.M1036I Missense 22/35 - 1
19-11136126-A-G c.3110A>G p.N1037S Missense 22/35 - 1
19-11136131-A-T c.3115A>T p.I1039F Missense 22/35 - 1
19-11136135-T-G c.3119T>G p.M1040R Missense 22/35 - 1
19-11136138-A-T c.3122A>T p.Q1041L Missense 22/35 - 1
19-11136142-G-T c.3126G>T p.L1042= Synonymous 22/35 - 1
19-11136142-G-A c.3126G>A p.L1042= Synonymous 22/35 - 1
19-11136142-G-C c.3126G>C p.L1042= Synonymous 22/35 - 1
19-11136140-C-T c.3124C>T p.L1042= Synonymous 22/35 - 1
19-11136143-C-T c.3127C>T p.R1043W Missense 22/35 - 4
19-11136144-G-T c.3128G>T p.R1043L Missense 22/35 - 2
19-11136151-C-A c.3135C>A p.I1045= Synonymous 22/35 - 1
19-11136151-C-T c.3135C>T p.I1045= Synonymous 22/35 - 1
19-11136152-T-C c.3136T>C p.C1046R Missense 22/35 - 2
19-11136156-A-G c.3140A>G p.N1047S Missense 22/35 - 1
19-11136157-C-G c.3141C>G p.N1047K Missense 22/35 - 1
19-11136157-C-A c.3141C>A p.N1047K Missense 22/35 - 1
19-11136158-C-T c.3142C>T p.H1048Y Missense 22/35 - 1
19-11136161-C-A c.3145C>A p.P1049T Missense 22/35 - 1
19-11136161-C-T c.3145C>T p.P1049S Missense 22/35 - 1
19-11136162-C-T c.3146C>T p.P1049L Missense 22/35 - 3
19-11136163-C-T c.3147C>T p.P1049= Synonymous 22/35 - 1
19-11136163-C-G c.3147C>G p.P1049= Synonymous 22/35 - 1
19-11136163-C-A c.3147C>A p.P1049= Synonymous 22/35 - 1
19-11136165-A-T c.3149A>T p.Y1050F Missense 22/35 - 1
19-11136166-AC-A c.3150del p.Y1050* Frameshift 22/35 - 1
19-11136166-C-A c.3150C>A p.Y1050* Nonsense 22/35 - 1
19-11136166-C-G c.3150C>G p.Y1050* Nonsense 22/35 - 1
19-11136173-C-T c.3157C>T p.Q1053* Nonsense 22/35 - 3
19-11136175-AG-A c.3159del p.Q1053Hfs*53 Frameshift 22/35 - 1
19-11136182-G-T c.3166G>T p.E1056* Nonsense 22/35 - 5
19-11136182-G-A c.3166G>A p.E1056K Missense 22/35 - 1
19-11136183-A-T c.3167A>T p.E1056V Missense 22/35 - 1
19-11136184-G-C c.3168G>C p.E1056D Missense 22/35 - 1
19-11136184-G-T c.3168G>T p.E1056D Missense 22/35 - 1
19-11136185-G-A c.3168+1G>A - IntronicSNV - 22/34 5
19-11136185-G-C c.3168+1G>C - IntronicSNV - 22/34 1
19-11136186-T-C c.3168+2T>C - IntronicSNV - 22/34 2
19-11136215-C-G c.3168+31C>G - IntronicSNV - 22/34 1
19-11136315-C-T c.3168+131C>T - IntronicSNV - 22/34 1
19-11136857-C-T c.3169-119C>T - IntronicSNV - 22/34 1
19-11136976-G-A c.3169G>A p.E1057K Missense 23/35 - 1
19-11136976-G-T c.3169G>T p.E1057* Nonsense 23/35 - 1
19-11136980-C-T c.3173C>T p.S1058F Missense 23/35 - 1
19-11136986-C-T c.3179C>T p.S1060F Missense 23/35 - 1
19-11136988-G-T c.3181G>T p.E1061* Nonsense 23/35 - 1
19-11136992-A-G c.3185A>G p.H1062R Missense 23/35 - 1
19-11136994-T-G c.3187T>G p.L1063V Missense 23/35 - 1
19-11136993-C-CT c.3188dup p.L1063Ffs*19 Frameshift 23/35 - 1
19-11136998-G-T c.3191G>T p.G1064V Missense 23/35 - 1
19-11136995-T-TG c.3192dup p.F1065Vfs*17 Frameshift 23/35 - 1
19-11137000-T-C c.3193T>C p.F1065L Missense 23/35 - 1
19-11137002-C-A c.3195C>A p.F1065L Missense 23/35 - 1
19-11137002-C-G c.3195C>G p.F1065L Missense 23/35 - 1
19-11137009-G-A c.3202G>A p.G1068S Missense 23/35 - 1
19-11137010-G-T c.3203G>T p.G1068V Missense 23/35 - 1
19-11137018-C-T c.3211C>T p.Q1071* Nonsense 23/35 - 1
19-11137021-G-A c.3214G>A p.G1072R Missense 23/35 - 1
19-11137021-G-C c.3214G>C p.G1072R Missense 23/35 - 1
19-11137021-G-T c.3214G>T p.G1072W Missense 23/35 - 1
19-11137023-G-T c.3215+1G>T - IntronicSNV - 23/34 1
19-11138462-T-A c.3218T>A p.L1073Q Missense 24/35 - 1
19-11138467-C-T c.3223C>T p.L1075= Synonymous 24/35 - 2
19-11138473-C-T c.3229C>T p.R1077* Nonsense 24/35 - 6
19-11138474-G-T c.3230G>T p.R1077L Missense 24/35 - 1
19-11138480-C-T c.3236C>T p.S1079L Missense 24/35 - 5
19-11138480-C-A c.3236C>A p.S1079* Nonsense 24/35 - 1
19-11138482-G-A c.3238G>A p.G1080S Missense 24/35 - 1
19-11138482-G-T c.3238G>T p.G1080C Missense 24/35 - 1
19-11138482-G-C c.3238G>C p.G1080R Missense 24/35 - 1
19-11138483-G-A c.3239G>A p.G1080D Missense 24/35 - 5
19-11138483-G-T c.3239G>T p.G1080V Missense 24/35 - 1
19-11138485-A-G c.3241A>G p.K1081E Missense 24/35 - 2
19-11138485-A-C c.3241A>C p.K1081Q Missense 24/35 - 1
19-11138486-A-T c.3242A>T p.K1081I Missense 24/35 - 1
19-11138487-A-C c.3243A>C p.K1081N Missense 24/35 - 1
19-11138487-A-T c.3243A>T p.K1081N Missense 24/35 - 1
19-11138488-T-A c.3244T>A p.F1082I Missense 24/35 - 1
19-11138487-AT-A c.3246del p.F1082Lfs*24 Frameshift 24/35 - 1
19-11138491-G-T c.3247G>T p.E1083* Nonsense 24/35 - 2
19-11138491-G-A c.3247G>A p.E1083K Missense 24/35 - 2
19-11138492-A-G c.3248A>G p.E1083G Missense 24/35 - 7
19-11138497-C-T c.3253C>T p.L1085F Missense 24/35 - 1
19-11138498-T-C c.3254T>C p.L1085P Missense 24/35 - 1
19-11138498-T-G c.3254T>G p.L1085R Missense 24/35 - 1
19-11138500-G-T c.3256G>T p.D1086Y Missense 24/35 - 1
19-11138500-G-A c.3256G>A p.D1086N Missense 24/35 - 1
19-11138500-G-C c.3256G>C p.D1086H Missense 24/35 - 1
19-11138504-G-T c.3260G>T p.R1087I Missense 24/35 - 1
19-11138504-G-A c.3260G>A p.R1087K Missense 24/35 - 1
19-11138509-C-T c.3265C>T p.L1089F Missense 24/35 - 1
19-11138512-C-T c.3268C>T p.P1090S Missense 24/35 - 1
19-11138515-A-T c.3271A>T p.K1091* Nonsense 24/35 - 1
19-11138515-A-G c.3271A>G p.K1091E Missense 24/35 - 1
19-11138517-ACTC-A c.3275_3277del p.L1092del InFrameDeletion 24/35 - 1
19-11138521-C-T c.3277C>T p.R1093* Nonsense 24/35 - 11
19-11138522-G-T c.3278G>T p.R1093L Missense 24/35 - 1
19-11138522-G-A c.3278G>A p.R1093Q Missense 24/35 - 2
19-11138533-C-T c.3289C>T p.H1097Y Missense 24/35 - 1
19-11138535-C-A c.3291C>A p.H1097Q Missense 24/35 - 1
19-11138535-C-G c.3291C>G p.H1097Q Missense 24/35 - 1
19-11138543-T-C c.3299T>C p.L1100P Missense 24/35 - 1
19-11138543-T-G c.3299T>G p.L1100R Missense 24/35 - 1
19-11138548-T-C c.3304T>C p.F1102L Missense 24/35 - 3
19-11138550-C-A c.3306C>A p.F1102L Missense 24/35 - 2
19-11138549-T-C c.3305T>C p.F1102S Missense 24/35 - 1
19-11138550-C-G c.3306C>G p.F1102L Missense 24/35 - 4
19-11138553-C-G c.3309C>G p.C1103W Missense 24/35 - 1
19-11138554-C-G c.3310C>G p.Q1104E Missense 24/35 - 1
19-11138554-C-A c.3310C>A p.Q1104K Missense 24/35 - 1
19-11138554-C-T c.3310C>T p.Q1104* Nonsense 24/35 - 1
19-11138555-A-T c.3311A>T p.Q1104L Missense 24/35 - 1
19-11138558-T-A c.3314T>A p.M1105K Missense 24/35 - 1
19-11138564-C-A c.3320C>A p.S1107Y Missense 24/35 - 1
19-11138566-C-G c.3322C>G p.L1108V Missense 24/35 - 1
19-11138567-T-C c.3323T>C p.L1108P Missense 24/35 - 2
19-11138569-A-G c.3325A>G p.M1109V Missense 24/35 - 2
19-11138571-G-C c.3327G>C p.M1109I Missense 24/35 - 1
19-11138571-G-A c.3327G>A p.M1109I Missense 24/35 - 1
19-11138571-G-T c.3327G>T p.M1109I Missense 24/35 - 1
19-11138576-T-C c.3332T>C p.I1111T Missense 24/35 - 1
19-11138580-G-C c.3336G>C p.M1112I Missense 24/35 - 1
19-11138580-G-A c.3336G>A p.M1112I Missense 24/35 - 1
19-11138580-G-T c.3336G>T p.M1112I Missense 24/35 - 1
19-11138581-G-A c.3337G>A p.E1113K Missense 24/35 - 2
19-11138581-G-T c.3337G>T p.E1113* Nonsense 24/35 - 1
19-11138593-G-T c.3349G>T p.A1117S Missense 24/35 - 1
19-11138598-T-A c.3354T>A p.Y1118* Nonsense 24/35 - 1
19-11138598-T-G c.3354T>G p.Y1118* Nonsense 24/35 - 1
19-11138599-CG-GC c.3355_3356delinsGC p.R1119A Missense 24/35 - 1
19-11138599-C-T c.3355C>T p.R1119C Missense 24/35 - 1
19-11138600-G-A c.3356G>A p.R1119H Missense 24/35 - 1
19-11138608-A-T c.3364A>T p.K1122* Nonsense 24/35 - 1
19-11138615-T-A c.3371T>A p.L1124H Missense 24/35 - 1
19-11138615-T-C c.3371T>C p.L1124P Missense 24/35 - 1
19-11138617-A-G c.3373A>G p.R1125G Missense 24/35 - 1
19-11138620-C-G c.3376C>G p.L1126V Missense 24/35 - 1
19-11138621-T-C c.3377T>C p.L1126P Missense 24/35 - 1
19-11138623-G-C c.3379G>C p.D1127H Missense 24/35 - 1
19-11138623-G-T c.3379G>T p.D1127Y Missense 24/35 - 1
19-11138623-G-A c.3379G>A p.D1127N Missense 24/35 - 1
19-11138624-A-G c.3380A>G p.D1127G Missense 24/35 - 2
19-11138624-A-T c.3380A>T p.D1127V Missense 24/35 - 1
19-11138626-G-A c.3382G>A p.G1128R Missense 24/35 - 1
19-11138626-G-C c.3382G>C p.G1128R Missense 24/35 - 1
19-11138626-G-T c.3382G>T p.G1128* Nonsense 24/35 - 1
19-11138628-T-G c.3382+2T>G - IntronicSNV - 24/34 1
19-11140703-T-C c.3383-703T>C - IntronicSNV - 24/34 2
19-11141406-G-T c.3383G>T p.G1128V Missense 25/35 - 1
19-11141406-G-C c.3383G>C p.G1128A Missense 25/35 - 1
19-11141411-A-T c.3388A>T p.T1130S Missense 25/35 - 1
19-11141414-A-G c.3391A>G p.K1131E Missense 25/35 - 1
19-11141417-G-A c.3394G>A p.A1132T Missense 25/35 - 1
19-11141418-C-T c.3395C>T p.A1132V Missense 25/35 - 1
19-11141420-G-T c.3397G>T p.E1133* Nonsense 25/35 - 1
19-11141426-C-T c.3403C>T p.R1135W Missense 25/35 - 4
19-11141426-C-G c.3403C>G p.R1135G Missense 25/35 - 2
19-11141427-G-A c.3404G>A p.R1135Q Missense 25/35 - 4
19-11141427-G-T c.3404G>T p.R1135L Missense 25/35 - 2
19-11141427-G-C c.3404G>C p.R1135P Missense 25/35 - 1
19-11141429-G-T c.3406G>T p.G1136C Missense 25/35 - 1
19-11141426-CG-C c.3407del p.G1136Afs*4 Frameshift 25/35 - 1
19-11141430-G-A c.3407G>A p.G1136D Missense 25/35 - 1
19-11141431-C-CA c.3409dup p.M1137Nfs*12 Frameshift 25/35 - 1
19-11141435-CT-A c.3412_3413delinsA p.L1138Sfs*2 Frameshift 25/35 - 1
19-11141441-A-T c.3418A>T p.K1140* Nonsense 25/35 - 1
19-11141444-A-C c.3421A>C p.T1141P Missense 25/35 - 1
19-11141445-C-T c.3422C>T p.T1141I Missense 25/35 - 2
19-11141447-T-C c.3424T>C p.F1142L Missense 25/35 - 1
19-11141449-C-A c.3426C>A p.F1142L Missense 25/35 - 1
19-11141449-C-G c.3426C>G p.F1142L Missense 25/35 - 2
19-11141447-TT-AA c.3424_3425inv p.F1142N Missense 25/35 - 1
19-11141448-T-C c.3425T>C p.F1142S Missense 25/35 - 1
19-11141453-G-T c.3430G>T p.E1144* Nonsense 25/35 - 1
19-11141456-C-T c.3433C>T p.P1145S Missense 25/35 - 1
19-11141457-C-T c.3434C>T p.P1145L Missense 25/35 - 1
19-11141459-G-A c.3436G>A p.G1146S Missense 25/35 - 1
19-11141460-G-A c.3437G>A p.G1146D Missense 25/35 - 1
19-11141460-G-T c.3437G>T p.G1146V Missense 25/35 - 1
19-11141463-C-A c.3440C>A p.S1147Y Missense 25/35 - 1
19-11141465-G-C c.3442G>C p.E1148Q Missense 25/35 - 1
19-11141466-A-C c.3443A>C p.E1148A Missense 25/35 - 2
19-11141467-G-C c.3444G>C p.E1148D Missense 25/35 - 1
19-11141467-G-T c.3444G>T p.E1148D Missense 25/35 - 1
19-11141470-CT-C c.3449del p.F1150Sfs*14 Frameshift 25/35 - 1
19-11141473-TC-T c.3450del p.F1150Lfs*14 Frameshift 25/35 - 1
19-11141477-T-G c.3454T>G p.F1152V Missense 25/35 - 1
19-11141487-G-T c.3464G>T p.S1155I Missense 25/35 - 1
19-11141487-G-A c.3464G>A p.S1155N Missense 25/35 - 1
19-11141490-C-A c.3467C>A p.T1156N Missense 25/35 - 1
19-11141490-C-G c.3467C>G p.T1156S Missense 25/35 - 1
19-11141489-A-T c.3466A>T p.T1156S Missense 25/35 - 1
19-11141492-C-G c.3469C>G p.R1157G Missense 25/35 - 2
19-11141492-C-T c.3469C>T p.R1157W Missense 25/35 - 5
19-11141493-G-A c.3470G>A p.R1157Q Missense 25/35 - 5
19-11141493-G-T c.3470G>T p.R1157L Missense 25/35 - 1
19-11141495-G-C c.3472G>C p.A1158P Missense 25/35 - 1
19-11141496-C-T c.3473C>T p.A1158V Missense 25/35 - 1
19-11141498-G-T c.3475G>T p.G1159W Missense 25/35 - 3
19-11141498-G-A c.3475G>A p.G1159R Missense 25/35 - 1
19-11141498-G-C c.3475G>C p.G1159R Missense 25/35 - 1
19-11141498-GG-CT c.3475_3476delinsCT p.G1159L Missense 25/35 - 1
19-11141499-G-T c.3476G>T p.G1159V Missense 25/35 - 2
19-11141499-G-A c.3476G>A p.G1159E Missense 25/35 - 1
19-11141501-G-T c.3478G>T p.G1160W Missense 25/35 - 3
19-11141502-G-T c.3479G>T p.G1160V Missense 25/35 - 2
19-11141502-G-A c.3479G>A p.G1160E Missense 25/35 - 1
19-11141497-TG-T c.3480del p.L1161Sfs*3 Frameshift 25/35 - 1
19-11141504-GC-G c.3481del p.L1161Sfs*3 Frameshift 25/35 - 1
19-11141504-C-T c.3481C>T p.L1161F Missense 25/35 - 1
19-11141507-G-A c.3484G>A p.G1162S Missense 25/35 - 6
19-11141507-G-C c.3484G>C p.G1162R Missense 25/35 - 1
19-11141507-G-T c.3484G>T p.G1162C Missense 25/35 - 1
19-11141508-G-A c.3485G>A p.G1162D Missense 25/35 - 1
19-11141508-G-T c.3485G>T p.G1162V Missense 25/35 - 1
19-11141511-T-A c.3488T>A p.L1163Q Missense 25/35 - 1
19-11141511-T-C c.3488T>C p.L1163P Missense 25/35 - 1
19-11141511-T-G c.3488T>G p.L1163R Missense 25/35 - 1
19-11141513-A-T c.3490A>T p.N1164Y Missense 25/35 - 1
19-11141514-A-G c.3491A>G p.N1164S Missense 25/35 - 1
19-11141514-A-C c.3491A>C p.N1164T Missense 25/35 - 1
19-11141514-A-T c.3491A>T p.N1164I Missense 25/35 - 1
19-11141516-C-T c.3493C>T p.L1165F Missense 25/35 - 1
19-11141517-T-G c.3494T>G p.L1165R Missense 25/35 - 1
19-11141519-C-T c.3496C>T p.Q1166* Nonsense 25/35 - 4
19-11141520-A-T c.3497A>T p.Q1166L Missense 25/35 - 1
19-11141520-A-G c.3497A>G p.Q1166R Missense 25/35 - 1
19-11141521-G-C c.3498G>C p.Q1166H Missense 25/35 - 1
19-11141523-C-T c.3500C>T p.S1167L Missense 25/35 - 1
19-11141525-G-A c.3502G>A p.A1168T Missense 25/35 - 2
19-11141528-G-A c.3505G>A p.D1169N Missense 25/35 - 1
19-11141528-G-T c.3505G>T p.D1169Y Missense 25/35 - 1
19-11141529-A-G c.3506A>G p.D1169G Missense 25/35 - 2
19-11141531-A-G c.3508A>G p.T1170A Missense 25/35 - 1
19-11141534-G-A c.3511G>A p.V1171M Missense 25/35 - 1
19-11141532-CTG-C c.3512_3513del p.V1171Dfs*4 Frameshift 25/35 - 1
19-11141535-T-C c.3512T>C p.V1171A Missense 25/35 - 1
19-11141535-T-A c.3512T>A p.V1171E Missense 25/35 - 1
19-11141540-A-G c.3517A>G p.I1173V Missense 25/35 - 1
19-11141541-T-A c.3518T>A p.I1173N Missense 25/35 - 1
19-11141543-T-G c.3520T>G p.F1174V Missense 25/35 - 1
19-11141546-G-C c.3523G>C p.D1175H Missense 25/35 - 1
19-11141546-G-A c.3523G>A p.D1175N Missense 25/35 - 1
19-11141546-G-T c.3523G>T p.D1175Y Missense 25/35 - 1
19-11141547-A-T c.3524A>T p.D1175V Missense 25/35 - 1
19-11141552-G-A c.3529G>A p.D1177N Missense 25/35 - 5
19-11141552-G-T c.3529G>T p.D1177Y Missense 25/35 - 1
19-11141554-AC-A c.3531del p.W1178Gfs*38 Frameshift 25/35 - 1
19-11141555-T-A c.3532T>A p.W1178R Missense 25/35 - 1
19-11141555-T-C c.3532T>C p.W1178R Missense 25/35 - 1
19-11141556-G-A c.3533G>A p.W1178* Nonsense 25/35 - 2
19-11141557-G-A c.3534G>A p.W1178* Nonsense 25/35 - 1
19-11141557-G-T c.3534G>T p.W1178C Missense 25/35 - 1
19-11141557-G-C c.3534G>C p.W1178C Missense 25/35 - 1
19-11141558-A-T c.3535A>T p.N1179Y Missense 25/35 - 1
19-11141558-A-C c.3535A>C p.N1179H Missense 25/35 - 1
19-11141561-C-T c.3538C>T p.P1180S Missense 25/35 - 2
19-11141560-TC-T c.3539del p.P1180Lfs*36 Frameshift 25/35 - 1
19-11141562-C-T c.3539C>T p.P1180L Missense 25/35 - 2
19-11141562-C-A c.3539C>A p.P1180H Missense 25/35 - 1
19-11141564-C-T c.3541C>T p.H1181Y Missense 25/35 - 1
19-11141565-A-C c.3542A>C p.H1181P Missense 25/35 - 1
19-11141567-C-T c.3544C>T p.Q1182* Nonsense 25/35 - 1
19-11141568-A-G c.3545A>G p.Q1182R Missense 25/35 - 1
19-11141568-A-T c.3545A>T p.Q1182L Missense 25/35 - 1
19-11141570-G-A c.3546+1G>A - IntronicSNV - 25/34 1
19-11141570-G-T c.3546+1G>T - IntronicSNV - 25/34 1
19-11141572-A-T c.3546+3A>T - IntronicSNV - 25/34 1
19-11143966-G-A c.3547G>A p.D1183N Missense 26/35 - 3
19-11143966-G-C c.3547G>C p.D1183H Missense 26/35 - 1
19-11143966-G-T c.3547G>T p.D1183Y Missense 26/35 - 2
19-11143967-A-T c.3548A>T p.D1183V Missense 26/35 - 1
19-11143970-T-G c.3551T>G p.L1184R Missense 26/35 - 1
19-11143972-C-T c.3553C>T p.Q1185* Nonsense 26/35 - 2
19-11143973-A-C c.3554A>C p.Q1185P Missense 26/35 - 1
19-11143974-A-T c.3555A>T p.Q1185H Missense 26/35 - 1
19-11143975-G-A c.3556G>A p.A1186T Missense 26/35 - 3
19-11143975-G-C c.3556G>C p.A1186P Missense 26/35 - 1
19-11143976-C-T c.3557C>T p.A1186V Missense 26/35 - 3
19-11143976-C-G c.3557C>G p.A1186G Missense 26/35 - 2
19-11143976-C-A c.3557C>A p.A1186E Missense 26/35 - 1
19-11143976-CGCA-C c.3559_3561del p.Q1187del InFrameDeletion 26/35 - 1
19-11143980-G-T c.3561G>T p.Q1187H Missense 26/35 - 1
19-11143980-G-C c.3561G>C p.Q1187H Missense 26/35 - 1
19-11143981-G-T c.3562G>T p.D1188Y Missense 26/35 - 1
19-11143981-GGAC-G c.3562_3564del p.D1188del InFrameDeletion 26/35 - 1
19-11143981-GA-TT c.3562_3563delinsTT p.D1188F Missense 26/35 - 1
19-11143981-G-C c.3562G>C p.D1188H Missense 26/35 - 1
19-11143982-A-T c.3563A>T p.D1188V Missense 26/35 - 2
19-11143983-C-G c.3564C>G p.D1188E Missense 26/35 - 1
19-11143983-C-A c.3564C>A p.D1188E Missense 26/35 - 1
19-11143984-C-T c.3565C>T p.R1189* Nonsense 26/35 - 7
19-11143984-C-G c.3565C>G p.R1189G Missense 26/35 - 2
19-11143985-G-A c.3566G>A p.R1189Q Missense 26/35 - 12
19-11143985-G-T c.3566G>T p.R1189L Missense 26/35 - 2
19-11143988-C-T c.3569C>T p.A1190V Missense 26/35 - 3
19-11143988-C-G c.3569C>G p.A1190G Missense 26/35 - 1
19-11143991-A-G c.3572A>G p.H1191R Missense 26/35 - 1
19-11143992-C-A c.3573C>A p.H1191Q Missense 26/35 - 1
19-11143992-C-G c.3573C>G p.H1191Q Missense 26/35 - 1
19-11143993-C-T c.3574C>T p.R1192C Missense 26/35 - 12
19-11143993-C-A c.3574C>A p.R1192S Missense 26/35 - 1
19-11143994-G-A c.3575G>A p.R1192H Missense 26/35 - 5
19-11143994-G-T c.3575G>T p.R1192L Missense 26/35 - 2
19-11143997-T-A c.3578T>A p.I1193N Missense 26/35 - 1
19-11143997-T-C c.3578T>C p.I1193T Missense 26/35 - 1
19-11143999-G-A c.3580G>A p.G1194R Missense 26/35 - 2
19-11143999-G-C c.3580G>C p.G1194R Missense 26/35 - 2
19-11143999-G-T c.3580G>T p.G1194W Missense 26/35 - 1
19-11144000-G-T c.3581G>T p.G1194V Missense 26/35 - 2
19-11144000-G-A c.3581G>A p.G1194E Missense 26/35 - 1
19-11144001-G-C c.3582G>C p.G1194= Synonymous 26/35 - 1
19-11144001-G-A c.3582G>A p.G1194= Synonymous 26/35 - 1
19-11144001-G-T c.3582G>T p.G1194= Synonymous 26/35 - 1
19-11144002-C-T c.3583C>T p.Q1195* Nonsense 26/35 - 2
19-11144003-A-T c.3584A>T p.Q1195L Missense 26/35 - 1
19-11144003-A-C c.3584A>C p.Q1195P Missense 26/35 - 1
19-11144004-G-T c.3585G>T p.Q1195H Missense 26/35 - 1
19-11144004-G-C c.3585G>C p.Q1195H Missense 26/35 - 1
19-11144005-C-T c.3586C>T p.Q1196* Nonsense 26/35 - 2
19-11144007-G-T c.3588G>T p.Q1196H Missense 26/35 - 2
19-11144007-G-C c.3588G>C p.Q1196H Missense 26/35 - 1
19-11144008-A-G c.3589A>G p.N1197D Missense 26/35 - 1
19-11144011-G-T c.3592G>T p.E1198* Nonsense 26/35 - 1
19-11144011-G-A c.3592G>A p.E1198K Missense 26/35 - 1
19-11144011-G-C c.3592G>C p.E1198Q Missense 26/35 - 1
19-11144013-G-C c.3594G>C p.E1198D Missense 26/35 - 1
19-11144013-G-T c.3594G>T p.E1198D Missense 26/35 - 1
19-11144014-G-A c.3595G>A p.V1199M Missense 26/35 - 2
19-11144014-G-C c.3595G>C p.V1199L Missense 26/35 - 1
19-11144014-G-T c.3595G>T p.V1199L Missense 26/35 - 1
19-11144015-T-C c.3596T>C p.V1199A Missense 26/35 - 1
19-11144017-C-T c.3598C>T p.R1200C Missense 26/35 - 2
19-11144017-GCGT-G c.3598_3600del p.R1200del InFrameDeletion 26/35 - 1
19-11144018-G-A c.3599G>A p.R1200H Missense 26/35 - 1
19-11144018-G-C c.3599G>C p.R1200P Missense 26/35 - 1
19-11144023-C-T c.3604C>T p.L1202F Missense 26/35 - 1
19-11144026-C-T c.3607C>T p.R1203C Missense 26/35 - 6
19-11144027-G-A c.3608G>A p.R1203H Missense 26/35 - 2
19-11144027-G-T c.3608G>T p.R1203L Missense 26/35 - 1
19-11144033-G-A c.3614G>A p.C1205Y Missense 26/35 - 1
19-11144034-C-A c.3615C>A p.C1205* Nonsense 26/35 - 1
19-11144036-C-T c.3617C>T p.T1206I Missense 26/35 - 1
19-11144038-G-A c.3619G>A p.V1207I Missense 26/35 - 1
19-11144042-A-T c.3623A>T p.N1208I Missense 26/35 - 1
19-11144042-A-G c.3623A>G p.N1208S Missense 26/35 - 1
19-11144045-G-A c.3626G>A p.S1209N Missense 26/35 - 1
19-11144047-G-A c.3628G>A p.V1210M Missense 26/35 - 1
19-11144047-G-C c.3628G>C p.V1210L Missense 26/35 - 1
19-11144047-G-T c.3628G>T p.V1210L Missense 26/35 - 1
19-11144050-G-T c.3631G>T p.E1211* Nonsense 26/35 - 2
19-11144051-A-T c.3632A>T p.E1211V Missense 26/35 - 2
19-11144053-G-A c.3634G>A p.E1212K Missense 26/35 - 1
19-11144053-G-T c.3634G>T p.E1212* Nonsense 26/35 - 1
19-11144048-TGGA-T c.3634_3636del p.E1212del InFrameDeletion 26/35 - 2
19-11144056-A-T c.3637A>T p.K1213* Nonsense 26/35 - 1
19-11144055-GA-G c.3638del p.K1213Rfs*3 Frameshift 26/35 - 1
19-11144053-GAGA-G c.3638_3640del p.K1213del InFrameDeletion 26/35 - 1
19-11144059-A-C c.3640A>C p.I1214L Missense 26/35 - 1
19-11144060-T-C c.3641T>C p.I1214T Missense 26/35 - 1
19-11144062-C-A c.3643C>A p.L1215I Missense 26/35 - 1
19-11144063-T-C c.3644T>C p.L1215P Missense 26/35 - 1
19-11144068-G-C c.3649G>C p.A1217P Missense 26/35 - 1
19-11144068-G-A c.3649G>A p.A1217T Missense 26/35 - 1
19-11144072-C-T c.3653C>T p.A1218V Missense 26/35 - 1
19-11144074-A-T c.3655A>T p.K1219* Nonsense 26/35 - 2
19-11144077-TA-GC c.3658_3659delinsGC p.Y1220A Missense 26/35 - 1
19-11144078-A-G c.3659A>G p.Y1220C Missense 26/35 - 1
19-11144080-A-G c.3661A>G p.K1221E Missense 26/35 - 1
19-11144081-A-T c.3662A>T p.K1221M Missense 26/35 - 1
19-11144082-G-C c.3663G>C p.K1221N Missense 26/35 - 2
19-11144082-G-T c.3663G>T p.K1221N Missense 26/35 - 1
19-11144084-T-C c.3665T>C p.L1222P Missense 26/35 - 1
19-11144086-A-C c.3667A>C p.N1223H Missense 26/35 - 1
19-11144089-G-C c.3670G>C p.V1224L Missense 26/35 - 1
19-11144089-G-T c.3670G>T p.V1224L Missense 26/35 - 1
19-11144090-T-C c.3671T>C p.V1224A Missense 26/35 - 1
19-11144095-C-T c.3676C>T p.Q1226* Nonsense 26/35 - 1
19-11144096-A-G c.3677A>G p.Q1226R Missense 26/35 - 1
19-11144096-A-C c.3677A>C p.Q1226P Missense 26/35 - 1
19-11144095-CAGA-C c.3679_3681del p.K1227del InFrameDeletion 26/35 - 1
19-11144098-A-T c.3679A>T p.K1227* Nonsense 26/35 - 1
19-11144100-G-C c.3681G>C p.K1227N Missense 26/35 - 1
19-11144100-G-T c.3681G>T p.K1227N Missense 26/35 - 1
19-11144104-A-T c.3685A>T p.I1229F Missense 26/35 - 1
19-11144106-C-G c.3687C>G p.I1229M Missense 26/35 - 1
19-11144109-G-T c.3690G>T p.Q1230H Missense 26/35 - 1
19-11144109-G-C c.3690G>C p.Q1230H Missense 26/35 - 1
19-11144110-G-A c.3691G>A p.A1231T Missense 26/35 - 1
19-11144110-G-C c.3691G>C p.A1231P Missense 26/35 - 1
19-11144111-C-T c.3692C>T p.A1231V Missense 26/35 - 1
19-11144111-C-A c.3692C>A p.A1231D Missense 26/35 - 2
19-11144113-G-A c.3694G>A p.G1232S Missense 26/35 - 11
19-11144113-G-C c.3694G>C p.G1232R Missense 26/35 - 1
19-11144113-G-T c.3694G>T p.G1232C Missense 26/35 - 1
19-11144113-GG-AT c.3694_3695delinsAT p.G1232I Missense 26/35 - 1
19-11144114-G-A c.3695G>A p.G1232D Missense 26/35 - 5
19-11144114-G-T c.3695G>T p.G1232V Missense 26/35 - 2
19-11144116-A-C c.3697A>C p.M1233L Missense 26/35 - 1
19-11144116-A-T c.3697A>T p.M1233L Missense 26/35 - 1
19-11144116-A-G c.3697A>G p.M1233V Missense 26/35 - 1
19-11144117-T-C c.3698T>C p.M1233T Missense 26/35 - 1
19-11144117-T-G c.3698T>G p.M1233R Missense 26/35 - 1
19-11144118-G-C c.3699G>C p.M1233I Missense 26/35 - 1
19-11144118-G-A c.3699G>A p.M1233I Missense 26/35 - 1
19-11144118-G-T c.3699G>T p.M1233I Missense 26/35 - 1
19-11144119-T-C c.3700T>C p.F1234L Missense 26/35 - 2
19-11144121-C-A c.3702C>A p.F1234L Missense 26/35 - 2
19-11144117-TGTTCGACCAGAA-T c.3701_3712del p.F1234_K1237del InFrameDeletion 26/35 - 1
19-11144121-C-G c.3702C>G p.F1234L Missense 26/35 - 3
19-11144122-G-T c.3703G>T p.D1235Y Missense 26/35 - 2
19-11144122-G-A c.3703G>A p.D1235N Missense 26/35 - 1
19-11144124-C-G c.3705C>G p.D1235E Missense 26/35 - 1
19-11144124-C-A c.3705C>A p.D1235E Missense 26/35 - 1
19-11144125-C-A c.3706C>A p.Q1236K Missense 26/35 - 2
19-11144125-C-G c.3706C>G p.Q1236E Missense 26/35 - 1
19-11144127-G-T c.3708G>T p.Q1236H Missense 26/35 - 1
19-11144127-G-C c.3708G>C p.Q1236H Missense 26/35 - 1
19-11144132-C-A c.3713C>A p.S1238Y Missense 26/35 - 1
19-11144132-C-T c.3713C>T p.S1238F Missense 26/35 - 1
19-11144134-T-C c.3715T>C p.S1239P Missense 26/35 - 1
19-11144135-C-T c.3716C>T p.S1239F Missense 26/35 - 1
19-11144135-C-G c.3716C>G p.S1239C Missense 26/35 - 1
19-11144135-C-A c.3716C>A p.S1239Y Missense 26/35 - 1
19-11144143-G-A c.3724G>A p.E1242K Missense 26/35 - 1
19-11144143-G-T c.3724G>T p.E1242* Nonsense 26/35 - 1
19-11144146-C-T c.3727C>T p.R1243W Missense 26/35 - 8
19-11144147-G-A c.3728G>A p.R1243Q Missense 26/35 - 2
19-11144147-G-T c.3728G>T p.R1243L Missense 26/35 - 3
19-11144147-G-C c.3728G>C p.R1243P Missense 26/35 - 1
19-11144149-C-T c.3730C>T p.R1244C Missense 26/35 - 1
19-11144150-G-C c.3731G>C p.R1244P Missense 26/35 - 1
19-11144152-G-C c.3733G>C p.A1245P Missense 26/35 - 1
19-11144152-G-A c.3733G>A p.A1245T Missense 26/35 - 2
19-11144152-G-T c.3733G>T p.A1245S Missense 26/35 - 1
19-11144155-T-C c.3736T>C p.F1246L Missense 26/35 - 1
19-11144157-C-A c.3738C>A p.F1246L Missense 26/35 - 1
19-11144157-C-G c.3738C>G p.F1246L Missense 26/35 - 1
19-11144165-C-T c.3746C>T p.A1249V Missense 26/35 - 2
19-11144167-A-G c.3748A>G p.I1250V Missense 26/35 - 2
19-11144167-A-T c.3748A>T p.I1250F Missense 26/35 - 1
19-11144170-CCTG-C c.3751_3753del p.L1251del InFrameDeletion 26/35 - 1
19-11144172-G-T c.3753G>T p.L1251= Synonymous 26/35 - 1
19-11144172-G-A c.3753G>A p.L1251= Synonymous 26/35 - 1
19-11144172-G-C c.3753G>C p.L1251= Synonymous 26/35 - 1
19-11144170-C-T c.3751C>T p.L1251= Synonymous 26/35 - 1
19-11144173-G-T c.3754G>T p.E1252* Nonsense 26/35 - 1
19-11144179-G-T c.3760G>T p.E1254* Nonsense 26/35 - 4
19-11144179-G-A c.3760G>A p.E1254K Missense 26/35 - 1
19-11144180-A-G c.3761A>G p.E1254G Missense 26/35 - 1
19-11144182-G-T c.3763G>T p.E1255* Nonsense 26/35 - 2
19-11144185-C-A c.3766C>A p.Q1256K Missense 26/35 - 1
19-11144185-C-T c.3766C>T p.Q1256* Nonsense 26/35 - 1
19-11144188-G-A c.3769G>A p.D1257N Missense 26/35 - 1
19-11144191-G-T c.3772G>T p.E1258* Nonsense 26/35 - 1
19-11144444-G-A c.3776G>A p.S1259N Missense 27/35 - 1
19-11144448-A-C c.3780A>C p.R1260S Missense 27/35 - 1
19-11144448-A-T c.3780A>T p.R1260S Missense 27/35 - 1
19-11144449-C-T c.3781C>T p.H1261Y Missense 27/35 - 1
19-11144457-C-T c.3789C>T p.S1263= Synonymous 27/35 - 1
19-11144459-C-T c.3791C>T p.T1264M Missense 27/35 - 1
19-11144461-G-A c.3793G>A p.G1265S Missense 27/35 - 1
19-11144462-G-A c.3794G>A p.G1265D Missense 27/35 - 1
19-11144468-G-A c.3800G>A p.G1267D Missense 27/35 - 1
19-11144477-G-A c.3809G>A p.S1270N Missense 27/35 - 1
19-11144477-G-T c.3809G>T p.S1270I Missense 27/35 - 1
19-11144481-C-T c.3813C>T p.F1271= Synonymous 27/35 - 1
19-11144482-G-A c.3814G>A p.A1272T Missense 27/35 - 1
19-11144486-A-T c.3818A>T p.H1273L Missense 27/35 - 1
19-11144494-C-T c.3826C>T p.P1276S Missense 27/35 - 1
19-11144495-C-A c.3827C>A p.P1276H Missense 27/35 - 1
19-11144497-C-T c.3829C>T p.P1277S Missense 27/35 - 1
19-11144498-C-T c.3830C>T p.P1277L Missense 27/35 - 3
19-11144498-C-A c.3830C>A p.P1277Q Missense 27/35 - 1
19-11144501-C-T c.3833C>T p.P1278L Missense 27/35 - 1
19-11144506-G-A c.3838G>A p.G1280S Missense 27/35 - 1
19-11144509-G-A c.3841G>A p.V1281I Missense 27/35 - 1
19-11144516-C-T c.3848C>T p.P1283L Missense 27/35 - 1
19-11144518-G-A c.3850G>A p.D1284N Missense 27/35 - 1
19-11144522-T-C c.3854T>C p.L1285S Missense 27/35 - 1
19-11144527-G-A c.3859G>A p.E1287K Missense 27/35 - 1
19-11144534-C-T c.3866C>T p.P1289L Missense 27/35 - 2
19-11144759-G-A c.3874-40G>A - IntronicSNV - 27/34 1
19-11144799-G-C c.3874G>C p.E1292Q Missense 28/35 - 1
19-11144800-GA-G c.3875del p.E1292Gfs*14 Frameshift 28/35 - 1
19-11144802-G-A c.3877G>A p.E1293K Missense 28/35 - 1
19-11144805-G-A c.3880G>A p.D1294N Missense 28/35 - 1
19-11144807-AC-A c.3882del p.D1294Efs*12 Frameshift 28/35 - 1
19-11144808-G-A c.3883G>A p.E1295K Missense 28/35 - 2
19-11144808-G-T c.3883G>T p.E1295* Nonsense 28/35 - 1
19-11144814-C-T c.3889C>T p.P1297S Missense 28/35 - 1
19-11144815-C-G c.3890C>G p.P1297R Missense 28/35 - 1
19-11144816-C-T c.3891C>T p.P1297= Synonymous 28/35 - 2
19-11144816-C-G c.3891C>G p.P1297= Synonymous 28/35 - 1
19-11144816-C-A c.3891C>A p.P1297= Synonymous 28/35 - 1
19-11144817-G-A c.3892G>A p.D1298N Missense 28/35 - 1
19-11144819-C-CT c.3894_3895insT p.D1299* Nonsense 28/35 - 1
19-11144820-G-A c.3895G>A p.D1299N Missense 28/35 - 1
19-11144820-GACGAGACCGTCA-G c.3898_3909del p.E1300_N1303del InFrameDeletion 28/35 - 1
19-11144823-G-A c.3898G>A p.E1300K Missense 28/35 - 1
19-11144827-C-T c.3902C>T p.T1301I Missense 28/35 - 1
19-11144828-C-T c.3903C>T p.T1301= Synonymous 28/35 - 1
19-11144832-A-G c.3907A>G p.N1303D Missense 28/35 - 1
19-11144834-C-A c.3909C>A p.N1303K Missense 28/35 - 2
19-11144834-C-G c.3909C>G p.N1303K Missense 28/35 - 1
19-11144835-C-T c.3910C>T p.Q1304* Nonsense 28/35 - 1
19-11144835-C-G c.3910C>G p.Q1304E Missense 28/35 - 1
19-11144842-TCG-ATC c.3917_3919delinsATC p.I1306_A1307delinsNP MultiAAMissense 28/35 - 1
19-11144842-T-A c.3917T>A p.I1306N Missense 28/35 - 1
19-11144844-G-A c.3919G>A p.A1307T Missense 28/35 - 1
19-11144844-G-C c.3919G>C p.A1307P Missense 28/35 - 1
19-11144845-C-G c.3920C>G p.A1307G Missense 28/35 - 1
19-11144847-C-T c.3922C>T p.R1308W Missense 28/35 - 1
19-11144848-G-T c.3923G>T p.R1308L Missense 28/35 - 1
19-11144853-G-T c.3928G>T p.E1310* Nonsense 28/35 - 2
19-11144853-G-C c.3928G>C p.E1310Q Missense 28/35 - 1
19-11144856-G-A c.3931G>A p.E1311K Missense 28/35 - 1
19-11144856-G-T c.3931G>T p.E1311* Nonsense 28/35 - 1
19-11144859-G-C c.3934G>C p.E1312Q Missense 28/35 - 1
19-11144859-G-A c.3934G>A p.E1312K Missense 28/35 - 1
19-11144852-CGAG-C c.3934_3936del p.E1312del InFrameDeletion 28/35 - 1
19-11144859-G-T c.3934G>T p.E1312* Nonsense 28/35 - 2
19-11144865-G-A c.3940G>A p.D1314N Missense 28/35 - 1
19-11144871-T-C c.3946T>C p.F1316L Missense 28/35 - 1
19-11144873-C-A c.3948C>A p.F1316L Missense 28/35 - 1
19-11144873-C-G c.3948C>G p.F1316L Missense 28/35 - 1
19-11144874-A-G c.3949A>G p.M1317V Missense 28/35 - 1
19-11145590-C-A c.3952C>A p.R1318S Missense 29/35 - 1
19-11145591-G-A c.3953G>A p.R1318H Missense 29/35 - 1
19-11145593-A-C c.3955A>C p.M1319L Missense 29/35 - 1
19-11145593-A-T c.3955A>T p.M1319L Missense 29/35 - 1
19-11145596-G-A c.3958G>A p.D1320N Missense 29/35 - 1
19-11145597-A-T c.3959A>T p.D1320V Missense 29/35 - 1
19-11145605-C-T c.3967C>T p.R1323C Missense 29/35 - 2
19-11145611-C-T c.3973C>T p.R1325C Missense 29/35 - 1
19-11145612-G-A c.3974G>A p.R1325H Missense 29/35 - 1
19-11145614-G-T c.3976G>T p.E1326* Nonsense 29/35 - 2
19-11145614-G-A c.3976G>A p.E1326K Missense 29/35 - 1
19-11145617-G-A c.3979G>A p.E1327K Missense 29/35 - 1
19-11145617-G-T c.3979G>T p.E1327* Nonsense 29/35 - 1
19-11145620-G-T c.3982G>T p.A1328S Missense 29/35 - 2
19-11145623-C-CA c.3985_3986insA p.R1329Qfs*32 Frameshift 29/35 - 1
19-11145620-G-GC c.3985dup p.R1329Pfs*32 Frameshift 29/35 - 1
19-11145624-G-A c.3986G>A p.R1329H Missense 29/35 - 1
19-11145630-C-T c.3992C>T p.P1331L Missense 29/35 - 1
19-11145633-A-G c.3995A>G p.K1332R Missense 29/35 - 1
19-11145636-G-A c.3998G>A p.R1333Q Missense 29/35 - 1
19-11145637-G-GT c.3999_4000insT p.K1334* Nonsense 29/35 - 1
19-11145640-G-C c.4002G>C p.K1334N Missense 29/35 - 1
19-11145640-G-T c.4002G>T p.K1334N Missense 29/35 - 1
19-11145642-C-T c.4004C>T p.P1335L Missense 29/35 - 1
19-11145644-C-T c.4006C>T p.R1336C Missense 29/35 - 3
19-11145645-G-A c.4007G>A p.R1336H Missense 29/35 - 1
19-11145653-G-A c.4015G>A p.E1339K Missense 29/35 - 1
19-11145655-G-C c.4017G>C p.E1339D Missense 29/35 - 1
19-11145655-G-T c.4017G>T p.E1339D Missense 29/35 - 1
19-11145656-G-A c.4018G>A p.E1340K Missense 29/35 - 2
19-11145656-G-T c.4018G>T p.E1340* Nonsense 29/35 - 1
19-11145657-A-T c.4019A>T p.E1340V Missense 29/35 - 1
19-11145659-G-A c.4021G>A p.D1341N Missense 29/35 - 1
19-11145662-G-T c.4024G>T p.E1342* Nonsense 29/35 - 2
19-11145662-G-A c.4024G>A p.E1342K Missense 29/35 - 1
19-11145663-A-G c.4025A>G p.E1342G Missense 29/35 - 1
19-11145666-T-A c.4028T>A p.L1343H Missense 29/35 - 1
19-11145668-C-T c.4030C>T p.P1344S Missense 29/35 - 2
19-11145668-CC-TT c.4030_4031delinsTT p.P1344F Missense 29/35 - 1
19-11145669-C-T c.4031C>T p.P1344L Missense 29/35 - 1
19-11145672-C-T c.4034C>T p.S1345L Missense 29/35 - 1
19-11145672-C-A c.4034C>A p.S1345* Nonsense 29/35 - 1
19-11145674-T-A c.4036T>A p.W1346R Missense 29/35 - 1
19-11145674-T-C c.4036T>C p.W1346R Missense 29/35 - 1
19-11145675-G-A c.4037G>A p.W1346* Nonsense 29/35 - 1
19-11145676-G-A c.4038G>A p.W1346* Nonsense 29/35 - 1
19-11145675-G-T c.4037G>T p.W1346L Missense 29/35 - 1
19-11145676-G-T c.4038G>T p.W1346C Missense 29/35 - 1
19-11145676-G-C c.4038G>C p.W1346C Missense 29/35 - 1
19-11145675-GGATCATCAAGGACGACGCGGAGGTGGAGCGGCTGACCT-G c.4039_4076del p.I1347* Frameshift 29/35 - 1
19-11145682-C-G c.4044C>G p.I1348M Missense 29/35 - 1
19-11145689-G-A c.4051G>A p.D1351N Missense 29/35 - 2
19-11145691-C-T c.4053C>T p.D1351= Synonymous 29/35 - 2
19-11145693-CG-AC c.4055_4056delinsAC p.A1352D Missense 29/35 - 1
19-11145693-C-T c.4055C>T p.A1352V Missense 29/35 - 1
19-11145695-G-A c.4057G>A p.E1353K Missense 29/35 - 1
19-11145695-G-T c.4057G>T p.E1353* Nonsense 29/35 - 1
19-11145701-G-T c.4063G>T p.E1355* Nonsense 29/35 - 1
19-11145701-G-C c.4063G>C p.E1355Q Missense 29/35 - 1
19-11145704-CGG-TGT c.4066_4068delinsTGT p.R1356C Missense 29/35 - 1
19-11145705-G-A c.4067G>A p.R1356Q Missense 29/35 - 1
19-11145707-C-A c.4069C>A p.L1357M Missense 29/35 - 1
19-11145710-A-G c.4072A>G p.T1358A Missense 29/35 - 1
19-11145714-G-T c.4076G>T p.C1359F Missense 29/35 - 1
19-11145715-T-G c.4077T>G p.C1359W Missense 29/35 - 1
19-11145716-G-T c.4078G>T p.E1360* Nonsense 29/35 - 1
19-11145718-G-C c.4080G>C p.E1360D Missense 29/35 - 1
19-11145718-G-T c.4080G>T p.E1360D Missense 29/35 - 1
19-11145719-G-A c.4081G>A p.E1361K Missense 29/35 - 2
19-11145719-G-T c.4081G>T p.E1361* Nonsense 29/35 - 1
19-11145722-G-C c.4084G>C p.E1362Q Missense 29/35 - 1
19-11145724-G-C c.4086G>C p.E1362D Missense 29/35 - 1
19-11145724-G-T c.4086G>T p.E1362D Missense 29/35 - 1
19-11145725-G-A c.4087G>A p.E1363K Missense 29/35 - 1
19-11145715-TGAG-T c.4090_4092del p.E1364del InFrameDeletion 29/35 - 1
19-11145728-G-A c.4090G>A p.E1364K Missense 29/35 - 1
19-11145728-G-T c.4090G>T p.E1364* Nonsense 29/35 - 1
19-11145731-A-G c.4093A>G p.K1365E Missense 29/35 - 1
19-11145728-GAGA-G c.4094_4096del p.K1365del InFrameDeletion 29/35 - 1
19-11145737-T-C c.4099T>C p.F1367L Missense 29/35 - 1
19-11145739-C-A c.4101C>A p.F1367L Missense 29/35 - 1
19-11145739-C-G c.4101C>G p.F1367L Missense 29/35 - 1
19-11145740-G-A c.4102G>A p.G1368S Missense 29/35 - 1
19-11145741-G-A c.4103G>A p.G1368D Missense 29/35 - 1
19-11145743-C-T c.4105C>T p.R1369C Missense 29/35 - 3
19-11145744-G-A c.4106G>A p.R1369H Missense 29/35 - 2
19-11145744-G-C c.4106G>C p.R1369P Missense 29/35 - 1
19-11145747-G-T c.4109G>T p.G1370V Missense 29/35 - 1
19-11145750-C-T c.4112C>T p.S1371F Missense 29/35 - 1
19-11145752-C-A c.4114C>A p.R1372S Missense 29/35 - 1
19-11145752-C-T c.4114C>T p.R1372C Missense 29/35 - 1
19-11145753-G-A c.4115G>A p.R1372H Missense 29/35 - 2
19-11145753-G-T c.4115G>T p.R1372L Missense 29/35 - 1
19-11145756-A-T c.4118A>T p.H1373L Missense 29/35 - 1
19-11145757-C-A c.4119C>A p.H1373Q Missense 29/35 - 1
19-11145757-C-G c.4119C>G p.H1373Q Missense 29/35 - 1
19-11145758-C-T c.4120C>T p.R1374C Missense 29/35 - 1
19-11145761-A-T c.4123A>T p.K1375* Nonsense 29/35 - 1
19-11145764-G-A c.4126G>A p.E1376K Missense 29/35 - 1
19-11145764-G-T c.4126G>T p.E1376* Nonsense 29/35 - 1
19-11145776-AG-GC c.4138_4139delinsGC p.S1380A Missense 29/35 - 1
19-11145776-AGC-GAG c.4138_4140delinsGAG p.S1380E Missense 29/35 - 1
19-11145774-ACAG-A c.4138_4140del p.S1380del InFrameDeletion 29/35 - 1
19-11145780-A-G c.4142A>G p.D1381G Missense 29/35 - 1
19-11145782-TC-GA c.4144_4145inv p.S1382E Missense 29/35 - 1
19-11145782-T-G c.4144T>G p.S1382A Missense 29/35 - 1
19-11145783-C-T c.4145C>T p.S1382L Missense 29/35 - 1
19-11145789-C-T c.4151C>T p.T1384M Missense 29/35 - 1
19-11145791-G-T c.4153G>T p.E1385* Nonsense 29/35 - 2
19-11145794-A-T c.4156A>T p.K1386* Nonsense 29/35 - 1
19-11145801-G-A c.4163G>A p.W1388* Nonsense 29/35 - 1
19-11145802-G-A c.4164G>A p.W1388* Nonsense 29/35 - 1
19-11145808-G-C c.4170G>C p.K1390N Missense 29/35 - 2
19-11145808-G-T c.4170G>T p.K1390N Missense 29/35 - 2
19-11145809-G-A c.4170+1G>A - IntronicSNV - 29/34 1
19-11145821-G-A c.4170+13G>A - IntronicSNV - 29/34 1
19-11146499-T-C c.4170+691T>C - IntronicSNV - 29/34 2
19-11147526-T-C c.4170+1718T>C - IntronicSNV - 29/34 1
19-11150116-T-C c.4171-1867T>C - IntronicSNV - 29/34 1
19-11151983-G-A c.4171G>A p.A1391T Missense 30/35 - 1
19-11151989-G-T c.4177G>T p.E1393* Nonsense 30/35 - 1
19-11151989-G-A c.4177G>A p.E1393K Missense 30/35 - 1
19-11151992-G-T c.4180G>T p.E1394* Nonsense 30/35 - 1
19-11151999-C-T c.4187C>T p.T1396M Missense 30/35 - 1
19-11152002-T-C c.4190T>C p.L1397P Missense 30/35 - 1
19-11152004-G-T c.4192G>T p.E1398* Nonsense 30/35 - 1
19-11152006-G-C c.4194G>C p.E1398D Missense 30/35 - 1
19-11152006-G-T c.4194G>T p.E1398D Missense 30/35 - 1
19-11152007-G-T c.4195G>T p.E1399* Nonsense 30/35 - 1
19-11152005-AGGAGATCGAAGAG-A c.4195_4207del p.E1399Rfs*60 Frameshift 30/35 - 1
19-11152009-G-T c.4197G>T p.E1399D Missense 30/35 - 2
19-11152009-G-C c.4197G>C p.E1399D Missense 30/35 - 1
19-11152013-G-A c.4201G>A p.E1401K Missense 30/35 - 1
19-11152014-A-G c.4202A>G p.E1401G Missense 30/35 - 1
19-11152016-G-T c.4204G>T p.E1402* Nonsense 30/35 - 2
19-11152016-G-A c.4204G>A p.E1402K Missense 30/35 - 1
19-11152019-G-T c.4207G>T p.E1403* Nonsense 30/35 - 1
19-11152022-G-T c.4210G>T p.V1404F Missense 30/35 - 1
19-11152023-T-G c.4211T>G p.V1404G Missense 30/35 - 1
19-11152023-T-A c.4211T>A p.V1404D Missense 30/35 - 1
19-11152025-C-T c.4213C>T p.R1405W Missense 30/35 - 1
19-11152026-G-A c.4214G>A p.R1405Q Missense 30/35 - 1
19-11152028-C-T c.4216C>T p.Q1406* Nonsense 30/35 - 1
19-11152029-A-G c.4217A>G p.Q1406R Missense 30/35 - 1
19-11152033-G-C c.4221G>C p.K1407N Missense 30/35 - 1
19-11152033-G-T c.4221G>T p.K1407N Missense 30/35 - 1
19-11152038-C-T c.4226C>T p.S1409L Missense 30/35 - 1
19-11152038-C-A c.4226C>A p.S1409* Nonsense 30/35 - 1
19-11152038-C-G c.4226C>G p.S1409* Nonsense 30/35 - 1
19-11152041-C-A c.4229C>A p.S1410* Nonsense 30/35 - 2
19-11152041-C-T c.4229C>T p.S1410L Missense 30/35 - 1
19-11152043-C-T c.4231C>T p.R1411W Missense 30/35 - 2
19-11152044-G-A c.4232G>A p.R1411Q Missense 30/35 - 1
19-11152049-C-T c.4237C>T p.R1413C Missense 30/35 - 1
19-11152047-AGC-A c.4238_4239del p.R1413Qfs*41 Frameshift 30/35 - 1
19-11152050-G-A c.4238G>A p.R1413H Missense 30/35 - 1
19-11152050-G-C c.4238G>C p.R1413P Missense 30/35 - 1
19-11152052-A-T c.4240A>T p.K1414* Nonsense 30/35 - 1
19-11152055-C-T c.4243C>T p.R1415* Nonsense 30/35 - 1
19-11152056-G-A c.4244G>A p.R1415Q Missense 30/35 - 1
19-11152059-A-G c.4247A>G p.D1416G Missense 30/35 - 1
19-11152061-AG-GA c.4249_4250delinsGA p.S1417D Missense 30/35 - 1
19-11152061-AG-GC c.4249_4250delinsGC p.S1417A Missense 30/35 - 1
19-11152062-G-T c.4250G>T p.S1417I Missense 30/35 - 1
19-11152064-G-A c.4252G>A p.D1418N Missense 30/35 - 1
19-11152065-A-G c.4253A>G p.D1418G Missense 30/35 - 1
19-11152073-T-C c.4261T>C p.S1421P Missense 30/35 - 1
19-11152074-C-A c.4262C>A p.S1421Y Missense 30/35 - 1
19-11152074-C-T c.4262C>T p.S1421F Missense 30/35 - 1
19-11152075-C-T c.4263C>T p.S1421= Synonymous 30/35 - 1
19-11152075-C-G c.4263C>G p.S1421= Synonymous 30/35 - 1
19-11152075-C-A c.4263C>A p.S1421= Synonymous 30/35 - 1
19-11152077-C-T c.4265C>T p.S1422F Missense 30/35 - 1
19-11152080-C-T c.4268C>T p.T1423I Missense 30/35 - 1
19-11152082-C-T c.4270C>T p.P1424S Missense 30/35 - 1
19-11152083-C-T c.4271C>T p.P1424L Missense 30/35 - 1
19-11152083-C-G c.4271C>G p.P1424R Missense 30/35 - 1
19-11152088-A-G c.4276A>G p.T1426A Missense 30/35 - 1
19-11152089-C-T c.4277C>T p.T1426I Missense 30/35 - 1
19-11152093-C-T c.4281C>T p.S1427= Synonymous 30/35 - 1
19-11152097-C-T c.4285C>T p.R1429C Missense 30/35 - 2
19-11152098-G-A c.4286G>A p.R1429H Missense 30/35 - 1
19-11152102-C-T c.4290C>T p.S1430= Synonymous 30/35 - 1
19-11152103-C-T c.4291C>T p.R1431C Missense 30/35 - 1
19-11152104-G-A c.4292G>A p.R1431H Missense 30/35 - 1
19-11152106-G-A c.4294G>A p.D1432N Missense 30/35 - 1
19-11152109-A-T c.4297A>T p.K1433* Nonsense 30/35 - 1
19-11152113-A-G c.4301A>G p.D1434G Missense 30/35 - 2
19-11152115-G-A c.4303G>A p.D1435N Missense 30/35 - 1
19-11152115-G-T c.4303G>T p.D1435Y Missense 30/35 - 1
19-11152111-GGAC-G c.4305_4307del p.D1435del InFrameDeletion 30/35 - 1
19-11152118-G-A c.4306G>A p.E1436K Missense 30/35 - 1
19-11152118-G-T c.4306G>T p.E1436* Nonsense 30/35 - 1
19-11152120-G-C c.4308G>C p.E1436D Missense 30/35 - 1
19-11152120-G-T c.4308G>T p.E1436D Missense 30/35 - 1
19-11152126-G-C c.4314G>C p.K1438N Missense 30/35 - 1
19-11152126-G-T c.4314G>T p.K1438N Missense 30/35 - 1
19-11152127-A-G c.4315A>G p.K1439E Missense 30/35 - 1
19-11152128-A-G c.4316A>G p.K1439R Missense 30/35 - 1
19-11152130-C-T c.4318C>T p.Q1440* Nonsense 30/35 - 1
19-11152136-A-C c.4324A>C p.K1442Q Missense 30/35 - 1
19-11152140-G-A c.4328G>A p.R1443H Missense 30/35 - 1
19-11152140-G-T c.4328G>T p.R1443L Missense 30/35 - 1
19-11152142-G-A c.4330G>A p.G1444R Missense 30/35 - 1
19-11152142-G-C c.4330G>C p.G1444R Missense 30/35 - 1
19-11152143-G-T c.4331G>T p.G1444V Missense 30/35 - 1
19-11152145-C-T c.4333C>T p.R1445W Missense 30/35 - 3
19-11152146-GG-AT c.4334_4335delinsAT p.R1445H Missense 30/35 - 1
19-11152146-G-A c.4334G>A p.R1445Q Missense 30/35 - 1
19-11152151-C-T c.4339C>T p.P1447S Missense 30/35 - 1
19-11152152-C-T c.4340C>T p.P1447L Missense 30/35 - 1
19-11152155-C-T c.4343C>T p.A1448V Missense 30/35 - 1
19-11152157-G-T c.4345G>T p.E1449* Nonsense 30/35 - 2
19-11152157-G-A c.4345G>A p.E1449K Missense 30/35 - 1
19-11152163-C-T c.4351C>T p.L1451F Missense 30/35 - 1
19-11152167-C-T c.4355C>T p.S1452F Missense 30/35 - 1
19-11152169-C-G c.4357C>G p.P1453A Missense 30/35 - 1
19-11152175-C-T c.4363C>T p.P1455S Missense 30/35 - 1
19-11152179-C-T c.4367C>T p.P1456L Missense 30/35 - 1
19-11152182-A-C c.4370A>C p.N1457T Missense 30/35 - 1
19-11152184-C-T c.4372C>T p.L1458F Missense 30/35 - 1
19-11152188-C-T c.4376C>T p.T1459I Missense 30/35 - 1
19-11152188-C-A c.4376C>A p.T1459N Missense 30/35 - 1
19-11152190-A-G c.4378A>G p.K1460E Missense 30/35 - 1
19-11152193-A-T c.4381A>T p.K1461* Nonsense 30/35 - 1
19-11152195-G-C c.4383G>C p.K1461N Missense 30/35 - 1
19-11152195-G-T c.4383G>T p.K1461N Missense 30/35 - 1
19-11152211-G-A c.4399G>A p.D1467N Missense 30/35 - 1
19-11152215-C-T c.4403C>T p.A1468V Missense 30/35 - 1
19-11152222-C-G c.4410C>G p.I1470M Missense 30/35 - 1
19-11152228-C-A c.4416C>A p.Y1472* Nonsense 30/35 - 1
19-11152228-C-G c.4416C>G p.Y1472* Nonsense 30/35 - 1
19-11152650-C-T c.4424+414C>T - IntronicSNV - 30/34 5
19-11159525-G-A c.4424+7289G>A - IntronicSNV - 30/34 4
19-11159525-G-T c.4424+7289G>T - IntronicSNV - 30/34 4
19-11163562-C-T c.4425-5369C>T - IntronicSNV - 30/34 17
19-11163601-G-T c.4425-5330G>T - IntronicSNV - 30/34 89
19-11164781-A-G c.4425-4150A>G - IntronicSNV - 30/34 1
19-11166163-C-T c.4425-2768C>T - IntronicSNV - 30/34 1
19-11166827-G-A c.4425-2104G>A - IntronicSNV - 30/34 3
19-11168029-T-C c.4425-902T>C - IntronicSNV - 30/34 1
19-11168896-A-G c.4425-35A>G - IntronicSNV - 30/34 1
19-11168936-G-A c.4430G>A p.S1477N Missense 31/35 - 1
19-11168938-G-T c.4432G>T p.G1478* Nonsense 31/35 - 1
19-11168941-C-T c.4435C>T p.R1479C Missense 31/35 - 1
19-11168944-C-T c.4438C>T p.Q1480* Nonsense 31/35 - 1
19-11168947-C-T c.4441C>T p.L1481F Missense 31/35 - 1
19-11168950-A-T c.4444A>T p.S1482C Missense 31/35 - 1
19-11168953-G-T c.4447G>T p.E1483* Nonsense 31/35 - 2
19-11168955-G-C c.4449G>C p.E1483D Missense 31/35 - 1
19-11168955-G-T c.4449G>T p.E1483D Missense 31/35 - 1
19-11168969-T-C c.4463T>C p.L1488P Missense 31/35 - 1
19-11168971-C-T c.4465C>T p.P1489S Missense 31/35 - 1
19-11168970-GCC-G c.4466_4467del p.P1489Lfs*59 Frameshift 31/35 - 1
19-11168974-T-C c.4468T>C p.S1490P Missense 31/35 - 1
19-11168975-C-T c.4469C>T p.S1490L Missense 31/35 - 1
19-11168977-C-T c.4471C>T p.R1491* Nonsense 31/35 - 2
19-11168978-G-A c.4472G>A p.R1491Q Missense 31/35 - 2
19-11168983-G-T c.4477G>T p.E1493* Nonsense 31/35 - 1
19-11168987-T-G c.4481T>G p.L1494R Missense 31/35 - 1
19-11168990-C-T c.4484C>T p.P1495L Missense 31/35 - 1
19-11168992-G-T c.4486G>T p.E1496* Nonsense 31/35 - 1
19-11168992-G-A c.4486G>A p.E1496K Missense 31/35 - 1
19-11168996-A-T c.4490A>T p.Y1497F Missense 31/35 - 1
19-11169000-C-A c.4494C>A p.Y1498* Nonsense 31/35 - 1
19-11169000-C-G c.4494C>G p.Y1498* Nonsense 31/35 - 1
19-11169001-G-T c.4495G>T p.E1499* Nonsense 31/35 - 2
19-11169001-G-A c.4495G>A p.E1499K Missense 31/35 - 1
19-11169011-G-A c.4505G>A p.R1502H Missense 31/35 - 2
19-11169015-G-C c.4509G>C p.K1503N Missense 31/35 - 1
19-11169015-G-T c.4509G>T p.K1503N Missense 31/35 - 1
19-11169016-C-T c.4510C>T p.P1504S Missense 31/35 - 1
19-11169017-C-T c.4511C>T p.P1504L Missense 31/35 - 1
19-11169019-G-T c.4513G>T p.V1505L Missense 31/35 - 1
19-11169019-G-A c.4513G>A p.V1505M Missense 31/35 - 1
19-11169022-G-T c.4516G>T p.D1506Y Missense 31/35 - 1
19-11169025-T-C c.4519T>C p.F1507L Missense 31/35 - 1
19-11169027-C-A c.4521C>A p.F1507L Missense 31/35 - 1
19-11169027-C-G c.4521C>G p.F1507L Missense 31/35 - 1
19-11169028-A-T c.4522A>T p.K1508* Nonsense 31/35 - 1
19-11169028-AAG-GAC c.4522_4524delinsGAC p.K1508D Missense 31/35 - 1
19-11169027-CAAG-C c.4526_4528del p.K1509del InFrameDeletion 31/35 - 1
19-11169033-G-C c.4527G>C p.K1509N Missense 31/35 - 1
19-11169033-G-T c.4527G>T p.K1509N Missense 31/35 - 1
19-11169035-T-A c.4529T>A p.I1510K Missense 31/35 - 1
19-11169036-A-G c.4530A>G p.I1510M Missense 31/35 - 1
19-11169039-G-GATCTATGAAGACTCCATC c.4533_4533+1insATCTATGAAGACTCCATC p.K1511_E1512insIYEDSI SpliceDonorInsertion - - 2
19-11169464-G-A c.4534G>A p.E1512K Missense 32/35 - 1
19-11169466-G-GATCTATGAAGACTCCATC c.4536_4537insATCTATGAAGACTCCATC p.E1512_R1513insIYEDSI InFrameInsertion 32/35 - 2
19-11169466-G-C c.4536G>C p.E1512D Missense 32/35 - 1
19-11169466-G-T c.4536G>T p.E1512D Missense 32/35 - 1
19-11169467-C-T c.4537C>T p.R1513C Missense 32/35 - 2
19-11169468-G-A c.4538G>A p.R1513H Missense 32/35 - 1
19-11169468-G-T c.4538G>T p.R1513L Missense 32/35 - 1
19-11169472-T-TATCTATGAAGACTCCATC c.4542_4543insATCTATGAAGACTCCATC p.I1514_R1515insIYEDSI InFrameInsertion 32/35 - 2
19-11169474-G-A c.4544G>A p.R1515H Missense 32/35 - 3
19-11169474-G-T c.4544G>T p.R1515L Missense 32/35 - 1
19-11169474-G-GCATCTATGAAGACTCCAT c.4546_4547insTCTATGAAGACTCCATCA p.R1515_N1516insIYEDSI InFrameInsertion 32/35 - 2
19-11169476-CAACCACAA-C c.4546_4553del p.N1516Vfs*30 Frameshift 32/35 - 1
19-11169482-A-T c.4552A>T p.K1518* Nonsense 32/35 - 1
19-11169482-AA-GC c.4552_4553delinsGC p.K1518A Missense 32/35 - 1
19-11169487-C-A c.4557C>A p.Y1519* Nonsense 32/35 - 1
19-11169487-C-G c.4557C>G p.Y1519* Nonsense 32/35 - 1
19-11169488-C-T c.4558C>T p.R1520C Missense 32/35 - 1
19-11169489-G-A c.4559G>A p.R1520H Missense 32/35 - 4
19-11169503-C-A c.4573C>A p.L1525I Missense 32/35 - 1
19-11169503-C-G c.4573C>G p.L1525V Missense 32/35 - 1
19-11169504-T-C c.4574T>C p.L1525P Missense 32/35 - 1
19-11169506-G-C c.4576G>C p.E1526Q Missense 32/35 - 2
19-11169506-G-A c.4576G>A p.E1526K Missense 32/35 - 1
19-11169506-G-T c.4576G>T p.E1526* Nonsense 32/35 - 1
19-11169508-G-C c.4578G>C p.E1526D Missense 32/35 - 1
19-11169508-G-T c.4578G>T p.E1526D Missense 32/35 - 1
19-11169509-A-T c.4579A>T p.K1527* Nonsense 32/35 - 1
19-11169511-G-C c.4581G>C p.K1527N Missense 32/35 - 1
19-11169511-G-T c.4581G>T p.K1527N Missense 32/35 - 1
19-11169514-C-T c.4584C>T p.D1528= Synonymous 32/35 - 1
19-11169514-C-G c.4584C>G p.D1528E Missense 32/35 - 1
19-11169514-C-A c.4584C>A p.D1528E Missense 32/35 - 1
19-11169516-T-A c.4586T>A p.V1529D Missense 32/35 - 1
19-11169527-T-A c.4597T>A p.C1533S Missense 32/35 - 1
19-11169528-G-C c.4598G>C p.C1533S Missense 32/35 - 1
19-11169530-C-T c.4600C>T p.Q1534* Nonsense 32/35 - 1
19-11169536-G-T c.4606G>T p.A1536S Missense 32/35 - 2
19-11169536-G-A c.4606G>A p.A1536T Missense 32/35 - 1
19-11169536-G-C c.4606G>C p.A1536P Missense 32/35 - 1
19-11169545-T-C c.4615T>C p.F1539L Missense 32/35 - 2
19-11169547-C-A c.4617C>A p.F1539L Missense 32/35 - 2
19-11169547-C-G c.4617C>G p.F1539L Missense 32/35 - 2
19-11169548-AAC-TGG c.4618_4620delinsTGG p.N1540W Missense 32/35 - 1
19-11169548-AA-GC c.4618_4619delinsGC p.N1540A Missense 32/35 - 2
19-11169554-G-T c.4624G>T p.E1542* Nonsense 32/35 - 2
19-11169554-G-A c.4624G>A p.E1542K Missense 32/35 - 2
19-11169557-G-A c.4627G>A p.G1543S Missense 32/35 - 1
19-11169560-T-C c.4630T>C p.S1544P Missense 32/35 - 1
19-11169561-C-T c.4631C>T p.S1544F Missense 32/35 - 1
19-11169565-G-GATCTATGAAGACTCCATC c.4635_4635+1insATCTATGAAGACTCCATC p.I1546_I1551dup SpliceDonorInsertion - - 2
19-11170429-A-G c.4636A>G p.I1546V Missense 33/35 - 1
19-11170435-G-T c.4642G>T p.E1548* Nonsense 33/35 - 1
19-11170438-G-C c.4645G>C p.D1549H Missense 33/35 - 1
19-11170438-G-A c.4645G>A p.D1549N Missense 33/35 - 1
19-11170442-C-A c.4649C>A p.S1550Y Missense 33/35 - 1
19-11170442-C-T c.4649C>T p.S1550F Missense 33/35 - 1
19-11170442-C-G c.4649C>G p.S1550C Missense 33/35 - 1
19-11170443-C-T c.4650C>T p.S1550= Synonymous 33/35 - 2
19-11170443-C-G c.4650C>G p.S1550= Synonymous 33/35 - 2
19-11170443-C-A c.4650C>A p.S1550= Synonymous 33/35 - 2
19-11170447-G-A c.4654G>A p.V1552I Missense 33/35 - 1
19-11170453-C-T c.4660C>T p.Q1554* Nonsense 33/35 - 1
19-11170457-CG-TT c.4664_4665delinsTT p.S1555F Missense 33/35 - 1
19-11170457-C-T c.4664C>T p.S1555L Missense 33/35 - 1
19-11170466-C-T c.4673C>T p.T1558I Missense 33/35 - 1
19-11170467-C-CT c.4674_4675insT p.S1559* Nonsense 33/35 - 1
19-11170474-C-T c.4681C>T p.R1561W Missense 33/35 - 1
19-11170475-G-A c.4682G>A p.R1561Q Missense 33/35 - 1
19-11170478-A-C c.4685A>C p.Q1562P Missense 33/35 - 1
19-11170480-A-G c.4687A>G p.K1563E Missense 33/35 - 1
19-11170480-A-T c.4687A>T p.K1563* Nonsense 33/35 - 1
19-11170479-GA-G c.4690del p.I1564Sfs*32 Frameshift 33/35 - 1
19-11170486-G-A c.4693G>A p.E1565K Missense 33/35 - 1
19-11170486-G-T c.4693G>T p.E1565* Nonsense 33/35 - 1
19-11170489-A-G c.4696A>G p.K1566E Missense 33/35 - 1
19-11170492-G-A c.4699G>A p.E1567K Missense 33/35 - 1
19-11170492-G-T c.4699G>T p.E1567* Nonsense 33/35 - 1
19-11170495-G-C c.4702G>C p.D1568H Missense 33/35 - 1
19-11170501-AGT-GAG c.4708_4710delinsGAG p.S1570E Missense 33/35 - 1
19-11170501-AG-GC c.4708_4709delinsGC p.S1570A Missense 33/35 - 1
19-11170503-T-G c.4710T>G p.S1570R Missense 33/35 - 1
19-11170503-T-A c.4710T>A p.S1570R Missense 33/35 - 1
19-11170501-A-C c.4708A>C p.S1570R Missense 33/35 - 1
19-11170504-G-A c.4711G>A p.E1571K Missense 33/35 - 1
19-11170504-G-C c.4711G>C p.E1571Q Missense 33/35 - 1
19-11170507-G-T c.4714G>T p.G1572C Missense 33/35 - 1
19-11170508-G-T c.4715G>T p.G1572V Missense 33/35 - 1
19-11170510-G-T c.4717G>T p.E1573* Nonsense 33/35 - 1
19-11170510-G-A c.4717G>A p.E1573K Missense 33/35 - 1
19-11170516-AGT-GAG c.4723_4725delinsGAG p.S1575E Missense 33/35 - 1
19-11170516-AG-GC c.4723_4724delinsGC p.S1575A Missense 33/35 - 1
19-11170517-G-A c.4724G>A p.S1575N Missense 33/35 - 1
19-11170519-G-T c.4726G>T p.E1576* Nonsense 33/35 - 1
19-11170521-G-C c.4728G>C p.E1576D Missense 33/35 - 1
19-11170521-G-T c.4728G>T p.E1576D Missense 33/35 - 1
19-11170522-G-A c.4729G>A p.E1577K Missense 33/35 - 1
19-11170522-G-T c.4729G>T p.E1577* Nonsense 33/35 - 1
19-11170522-G-C c.4729G>C p.E1577Q Missense 33/35 - 1
19-11170524-G-GATCTATGAAGACTCCATC c.4731_4732insATCTATGAAGACTCCATC p.E1577_E1578insIYEDSI InFrameInsertion 33/35 - 2
19-11170525-G-T c.4732G>T p.E1578* Nonsense 33/35 - 1
19-11170527-G-T c.4734G>T p.E1578D Missense 33/35 - 1
19-11170528-G-T c.4735G>T p.E1579* Nonsense 33/35 - 3
19-11170531-G-C c.4738G>C p.E1580Q Missense 33/35 - 2
19-11170535-G-T c.4742G>T p.G1581V Missense 33/35 - 1
19-11170537-G-T c.4744G>T p.E1582* Nonsense 33/35 - 1
19-11170537-G-A c.4744G>A p.E1582K Missense 33/35 - 1
19-11170540-G-T c.4747G>T p.E1583* Nonsense 33/35 - 1
19-11170540-G-A c.4747G>A p.E1583K Missense 33/35 - 1
19-11170542-G-C c.4749G>C p.E1583D Missense 33/35 - 1
19-11170542-G-T c.4749G>T p.E1583D Missense 33/35 - 1
19-11170543-G-T c.4750G>T p.E1584* Nonsense 33/35 - 1
19-11170544-A-T c.4751A>T p.E1584V Missense 33/35 - 1
19-11170547-G-A c.4754G>A p.G1585D Missense 33/35 - 1
19-11170549-TCC-GAG c.4756_4758delinsGAG p.S1586E Missense 33/35 - 1
19-11170549-T-G c.4756T>G p.S1586A Missense 33/35 - 1
19-11170550-C-T c.4757C>T p.S1586F Missense 33/35 - 1
19-11170552-G-A c.4759G>A p.E1587K Missense 33/35 - 1
19-11170552-G-C c.4759G>C p.E1587Q Missense 33/35 - 1
19-11170552-G-T c.4759G>T p.E1587* Nonsense 33/35 - 1
19-11170556-C-T c.4763C>T p.S1588F Missense 33/35 - 2
19-11170556-C-A c.4763C>A p.S1588Y Missense 33/35 - 1
19-11170558-G-A c.4765G>A p.E1589K Missense 33/35 - 1
19-11170577-G-T c.4768+16G>T - IntronicSNV - 33/34 1
19-11170577-G-A c.4768+16G>A - IntronicSNV - 33/34 1
19-11170723-CG-TA c.4771_4772delinsTA p.R1591* Nonsense 34/35 - 1
19-11170723-C-T c.4771C>T p.R1591W Missense 34/35 - 1
19-11170724-G-A c.4772G>A p.R1591Q Missense 34/35 - 1
19-11170724-G-T c.4772G>T p.R1591L Missense 34/35 - 1
19-11170727-C-T c.4775C>T p.S1592F Missense 34/35 - 2
19-11170732-A-T c.4780A>T p.K1594* Nonsense 34/35 - 1
19-11170740-G-C c.4788G>C p.K1596N Missense 34/35 - 1
19-11170740-G-T c.4788G>T p.K1596N Missense 34/35 - 1
19-11170743-C-G c.4791C>G p.I1597M Missense 34/35 - 1
19-11170751-G-A c.4799G>A p.G1600D Missense 34/35 - 1
19-11170753-C-T c.4801C>T p.R1601W Missense 34/35 - 2
19-11170754-G-A c.4802G>A p.R1601Q Missense 34/35 - 1
19-11170756-A-T c.4804A>T p.K1602* Nonsense 34/35 - 1
19-11170755-GA-G c.4805del p.K1602Rfs*8 Frameshift 34/35 - 1
19-11170757-A-G c.4805A>G p.K1602R Missense 34/35 - 1
19-11170761-G-C c.4809G>C p.E1603D Missense 34/35 - 1
19-11170761-G-T c.4809G>T p.E1603D Missense 34/35 - 1
19-11170764-G-C c.4812G>C p.K1604N Missense 34/35 - 1
19-11170764-G-T c.4812G>T p.K1604N Missense 34/35 - 1
19-11170770-G-A c.4818G>A p.Q1606= Synonymous 34/35 - 1
19-11170770-G-T c.4818G>T p.Q1606H Missense 34/35 - 1
19-11170770-G-C c.4818G>C p.Q1606H Missense 34/35 - 1
19-11170771-G-A c.4819G>A p.D1607N Missense 34/35 - 2
19-11170774-C-T c.4822C>T p.R1608W Missense 34/35 - 2
19-11170775-GG-AT c.4823_4824delinsAT p.R1608H Missense 34/35 - 1
19-11170775-G-A c.4823G>A p.R1608Q Missense 34/35 - 2
19-11170781-A-C c.4829A>C p.K1610T Missense 34/35 - 1
19-11170782-G-C c.4830G>C p.K1610N Missense 34/35 - 1
19-11170782-G-T c.4830G>T p.K1610N Missense 34/35 - 1
19-11170789-C-T c.4837C>T p.R1613W Missense 34/35 - 1
19-11170792-C-T c.4840C>T p.R1614W Missense 34/35 - 1
19-11170793-G-A c.4841G>A p.R1614Q Missense 34/35 - 1
19-11170793-G-T c.4841G>T p.R1614L Missense 34/35 - 1
19-11170795-C-T c.4843C>T p.R1615W Missense 34/35 - 1
19-11170796-G-A c.4844G>A p.R1615Q Missense 34/35 - 3
19-11170796-G-T c.4844G>T p.R1615L Missense 34/35 - 1
19-11170804-C-T c.4852C>T p.R1618* Nonsense 34/35 - 1
19-11170805-G-A c.4853G>A p.R1618Q Missense 34/35 - 2
19-11170807-G-A c.4855G>A p.G1619R Missense 34/35 - 1
19-11170807-G-C c.4855G>C p.G1619R Missense 34/35 - 1
19-11170811-C-T c.4859C>T p.S1620F Missense 34/35 - 1
19-11170811-C-A c.4859C>A p.S1620Y Missense 34/35 - 1
19-11170813-C-T c.4861C>T p.R1621* Nonsense 34/35 - 3
19-11170814-G-A c.4862G>A p.R1621Q Missense 34/35 - 1
19-11170817-C-G c.4865C>G p.A1622G Missense 34/35 - 1
19-11170817-C-T c.4865C>T p.A1622V Missense 34/35 - 1
19-11170822-C-T c.4870C>T p.P1624S Missense 34/35 - 1
19-11170825-G-T c.4873G>T p.V1625F Missense 34/35 - 1
19-11170826-T-G c.4874T>G p.V1625G Missense 34/35 - 1
19-11170828-G-A c.4876G>A p.V1626M Missense 34/35 - 3
19-11170828-G-C c.4876G>C p.V1626L Missense 34/35 - 1
19-11170828-G-T c.4876G>T p.V1626L Missense 34/35 - 1
19-11170831-AG-GC c.4879_4880delinsGC p.S1627A Missense 34/35 - 1
19-11170831-AGT-GAG c.4879_4881delinsGAG p.S1627E Missense 34/35 - 1
19-11170832-G-T c.4880G>T p.S1627I Missense 34/35 - 1
19-11170836-C-T c.4884C>T p.D1628= Synonymous 34/35 - 1
19-11170837-G-A c.4885G>A p.D1629N Missense 34/35 - 1
19-11170839-T-C c.4887T>C p.D1629= Synonymous 34/35 - 5
19-11170840-G-A c.4888G>A p.D1630N Missense 34/35 - 1
19-11170846-G-T c.4894G>T p.E1632* Nonsense 34/35 - 1
19-11170848-G-A c.4896G>A p.E1632= Synonymous 34/35 - 1
19-11170849-G-T c.4897G>T p.E1633* Nonsense 34/35 - 1
19-11170851-G-C c.4899G>C p.E1633D Missense 34/35 - 1
19-11170851-G-T c.4899G>T p.E1633D Missense 34/35 - 1
19-11170854-A-C c.4902A>C p.E1634D Missense 34/35 - 1
19-11170855-C-T c.4903C>T p.Q1635* Nonsense 34/35 - 1
19-11170858-G-A c.4906G>A p.E1636K Missense 34/35 - 1
19-11170860-G-C c.4908G>C p.E1636D Missense 34/35 - 1
19-11170860-G-T c.4908G>T p.E1636D Missense 34/35 - 1
19-11170861-G-C c.4909G>C p.E1637Q Missense 34/35 - 1
19-11170863-G-C c.4911G>C p.E1637D Missense 34/35 - 1
19-11170863-G-T c.4911G>T p.E1637D Missense 34/35 - 1
19-11171600-T-C c.4911+737T>C - IntronicSNV - 34/34 1
19-11171865-A-T c.4912-595A>T - IntronicSNV - 34/34 1
19-11172430-G-A c.4912-30G>A - IntronicSNV - 34/34 1
19-11172460-G-T c.4912G>T p.D1638Y Missense 35/35 - 1
19-11172461-A-C c.4913A>C p.D1638A Missense 35/35 - 1
19-11172464-G-A c.4916G>A p.R1639H Missense 35/35 - 1
19-11172479-G-T c.4931G>T p.S1644I Missense 35/35 - 1
19-11172481-G-A c.4933G>A p.E1645K Missense 35/35 - 1
19-11172480-CGAA-C c.4938_4940del p.E1646del InFrameDeletion 35/35 - 1