TSC2 TSC complex subunit 2

Annotation transcript: NM_000548.5

1573 unique variant annotations were identified in 797 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
16-2098339-C-G c.-29-249C>G - IntronicSNV - 1/41 1
16-2098628-A-C c.12A>C p.P4= Synonymous 2/42 - 1
16-2098628-A-G c.12A>G p.P4= Synonymous 2/42 - 1
16-2098628-A-T c.12A>T p.P4= Synonymous 2/42 - 1
16-2098642-C-A c.26C>A p.S9* Nonsense 2/42 - 1
16-2098653-GAG-TTT c.37_39delinsTTT p.E13F Missense 2/42 - 1
16-2098655-G-T c.39G>T p.E13D Missense 2/42 - 1
16-2098656-AAG-GAC c.40_42delinsGAC p.K14D Missense 2/42 - 1
16-2098656-A-T c.40A>T p.K14* Nonsense 2/42 - 1
16-2098658-G-T c.42G>T p.K14N Missense 2/42 - 1
16-2098664-G-T c.48G>T p.K16N Missense 2/42 - 1
16-2098665-AT-CC c.49_50delinsCC p.I17P Missense 2/42 - 1
16-2098666-T-A c.50T>A p.I17N Missense 2/42 - 1
16-2098674-G-A c.58G>A p.G20R Missense 2/42 - 1
16-2098675-G-A c.59G>A p.G20E Missense 2/42 - 1
16-2098677-C-CT c.62dup p.T23Nfs*12 Frameshift 2/42 - 1
16-2098680-G-A c.64G>A p.G22R Missense 2/42 - 1
16-2098680-G-T c.64G>T p.G22* Nonsense 2/42 - 1
16-2098681-G-A c.65G>A p.G22E Missense 2/42 - 1
16-2098683-A-G c.67A>G p.T23A Missense 2/42 - 2
16-2098686-CCG-TTT c.70_72delinsTTT p.P24F Missense 2/42 - 1
16-2098686-C-G c.70C>G p.P24A Missense 2/42 - 1
16-2098689-AGG-TGT c.73_75delinsTGT p.R25C Missense 2/42 - 1
16-2098692-C-T c.76C>T p.P26S Missense 2/42 - 1
16-2098698-CCC-ATG c.82_84delinsATG p.P28M Missense 2/42 - 1
16-2098698-C-T c.82C>T p.P28S Missense 2/42 - 1
16-2098707-G-A c.91G>A p.A31T Missense 2/42 - 1
16-2098707-G-C c.91G>C p.A31P Missense 2/42 - 1
16-2098707-GCA-TGT c.91_93delinsTGT p.A31C Missense 2/42 - 1
16-2098708-CA-AC c.92_93delinsAC p.A31D Missense 2/42 - 1
16-2098716-A-G c.100A>G p.K34E Missense 2/42 - 1
16-2098716-A-T c.100A>T p.K34* Nonsense 2/42 - 1
16-2098719-C-T c.103C>T p.Q35* Nonsense 2/42 - 1
16-2098720-A-G c.104A>G p.Q35R Missense 2/42 - 1
16-2098723-C-CG c.109dup p.E37Gfs*30 Frameshift 2/42 - 1
16-2098729-T-A c.113T>A p.F38Y Missense 2/42 - 1
16-2098732-TC-AG c.116_117delinsAG p.I39K Missense 2/42 - 2
16-2098737-A-G c.121A>G p.T41A Missense 2/42 - 1
16-2098741-C-T c.125C>T p.A42V Missense 2/42 - 1
16-2098747-TACTG-T c.133_136del p.L45Efs*3 Frameshift 2/42 - 1
16-2098749-C-T c.133C>T p.L45= Synonymous 2/42 - 1
16-2098755-G-A c.138+1G>A - IntronicSNV - 2/41 2
16-2098756-T-A c.138+2T>A - IntronicSNV - 2/41 1
16-2100401-G-T c.139G>T p.E47* Nonsense 3/42 - 1
16-2100410-A-G c.148A>G p.M50V Missense 3/42 - 2
16-2100416-TG-GA c.154_155delinsGA p.C52D Missense 3/42 - 1
16-2100419-G-T c.157G>T p.G53C Missense 3/42 - 1
16-2100421-C-A c.159C>A p.G53= Synonymous 3/42 - 1
16-2100429-A-G c.167A>G p.N56S Missense 3/42 - 2
16-2100431-C-T c.169C>T p.R57C Missense 3/42 - 2
16-2100431-TC-T c.169del p.R57Afs*4 Frameshift 3/42 - 1
16-2100432-G-A c.170G>A p.R57H Missense 3/42 - 2
16-2100440-AT-GA c.178_179delinsGA p.M60E Missense 3/42 - 1
16-2100447-G-A c.185G>A p.G62E Missense 3/42 - 1
16-2100449-C-G c.187C>G p.Q63E Missense 3/42 - 1
16-2100449-C-T c.187C>T p.Q63* Nonsense 3/42 - 2
16-2100449-C-CA c.188dup p.I64Dfs*3 Frameshift 3/42 - 1
16-2100450-A-T c.188A>T p.Q63L Missense 3/42 - 3
16-2100452-A-G c.190A>G p.I64V Missense 3/42 - 2
16-2100455-TGT-GAG c.193_195delinsGAG p.C65E Missense 3/42 - 1
16-2100458-G-A c.196G>A p.E66K Missense 3/42 - 1
16-2100461-G-A c.199G>A p.V67I Missense 3/42 - 1
16-2100461-G-T c.199G>T p.V67F Missense 3/42 - 2
16-2100464-G-A c.202G>A p.A68T Missense 3/42 - 2
16-2100464-G-T c.202G>T p.A68S Missense 3/42 - 1
16-2100465-C-T c.203C>T p.A68V Missense 3/42 - 1
16-2100468-A-G c.206A>G p.K69R Missense 3/42 - 1
16-2100471-CC-TG c.209_210delinsTG p.T70M Missense 3/42 - 1
16-2100476-AA-GC c.214_215delinsGC p.K72A Missense 3/42 - 1
16-2100478-AT-A c.219del p.F73Lfs*33 Frameshift 3/42 - 1
16-2100485-G-A c.223G>A p.E75K Missense 3/42 - 3
16-2100486-A-G c.224A>G p.E75G Missense 3/42 - 2
16-2100489-T-A c.225+2T>A - IntronicSNV - 3/41 1
16-2100489-T-C c.225+2T>C - IntronicSNV - 3/41 1
16-2101947-T-C c.226-1396T>C - IntronicSNV - 3/41 1
16-2103343-C-T c.226C>T p.H76Y Missense 4/42 - 1
16-2103344-A-G c.227A>G p.H76R Missense 4/42 - 2
16-2103345-C-T c.228C>T p.H76= Synonymous 4/42 - 2
16-2103346-G-T c.229G>T p.A77S Missense 4/42 - 1
16-2103347-CA-AC c.230_231delinsAC p.A77D Missense 4/42 - 1
16-2103349-GTG-TTT c.232_234delinsTTT p.V78F Missense 4/42 - 1
16-2103352-G-C c.235G>C p.E79Q Missense 4/42 - 1
16-2103353-A-C c.236A>C p.E79A Missense 4/42 - 1
16-2103355-G-A c.238G>A p.A80T Missense 4/42 - 1
16-2103357-A-C c.240A>C p.A80= Synonymous 4/42 - 1
16-2103357-A-G c.240A>G p.A80= Synonymous 4/42 - 1
16-2103357-A-T c.240A>T p.A80= Synonymous 4/42 - 1
16-2103359-T-C c.242T>C p.L81P Missense 4/42 - 1
16-2103362-G-A c.245G>A p.W82* Nonsense 4/42 - 1
16-2103363-G-A c.246G>A p.W82* Nonsense 4/42 - 1
16-2103365-A-G c.248A>G p.K83R Missense 4/42 - 1
16-2103367-G-A c.250G>A p.A84T Missense 4/42 - 1
16-2103368-C-T c.251C>T p.A84V Missense 4/42 - 5
16-2103370-G-A c.253G>A p.V85I Missense 4/42 - 1
16-2103373-G-A c.256G>A p.A86T Missense 4/42 - 1
16-2103373-GCG-TGT c.256_258delinsTGT p.A86C Missense 4/42 - 2
16-2103374-C-T c.257C>T p.A86V Missense 4/42 - 1
16-2103378-T-C c.261T>C p.D87= Synonymous 4/42 - 1
16-2103379-C-CT c.263dup p.L89Vfs*37 Frameshift 4/42 - 1
16-2103381-GT-G c.266del p.L89Cfs*17 Frameshift 4/42 - 1
16-2103385-C-T c.268C>T p.Q90* Nonsense 4/42 - 4
16-2103386-A-G c.269A>G p.Q90R Missense 4/42 - 1
16-2103389-C-T c.272C>T p.P91L Missense 4/42 - 4
16-2103391-G-T c.274G>T p.E92* Nonsense 4/42 - 1
16-2103392-A-T c.275A>T p.E92V Missense 4/42 - 4
16-2103394-C-G c.277C>G p.R93G Missense 4/42 - 1
16-2103394-C-T c.277C>T p.R93W Missense 4/42 - 3
16-2103395-G-A c.278G>A p.R93Q Missense 4/42 - 1
16-2103396-G-A c.279G>A p.R93= Synonymous 4/42 - 1
16-2103398-C-T c.281C>T p.P94L Missense 4/42 - 1
16-2103406-G-A c.289G>A p.A97T Missense 4/42 - 2
16-2103407-C-T c.290C>T p.A97V Missense 4/42 - 2
16-2103409-C-T c.292C>T p.R98W Missense 4/42 - 3
16-2103415-G-A c.298G>A p.A100T Missense 4/42 - 1
16-2103418-G-A c.301G>A p.V101M Missense 4/42 - 1
16-2103430-GCTGAAGGCCATCGTGCAGGGGCAGGTAAGGCCCAGGGCGACGCTGGGATGGGTGACGTC-G c.313_336+35del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 4/42 4/41 1
16-2103433-A-T c.316A>T p.K106* Nonsense 4/42 - 1
16-2103434-A-G c.317A>G p.K106R Missense 4/42 - 1
16-2103436-G-A c.319G>A p.A107T Missense 4/42 - 1
16-2103445-C-T c.328C>T p.Q110* Nonsense 4/42 - 1
16-2103448-G-T c.331G>T p.G111W Missense 4/42 - 1
16-2103451-C-T c.334C>T p.Q112* Nonsense 4/42 - 1
16-2103452-AG-A c.336+1del - Frameshift - 4/41 1
16-2103686-T-C c.336+233T>C - IntronicSNV - 4/41 1
16-2104297-G-A c.337G>A p.G113S Missense 5/42 - 1
16-2104297-G-C c.337G>C p.G113R Missense 5/42 - 1
16-2104300-G-A c.340G>A p.E114K Missense 5/42 - 2
16-2104300-G-T c.340G>T p.E114* Nonsense 5/42 - 1
16-2104304-G-A c.344G>A p.R115H Missense 5/42 - 1
16-2104306-T-G c.346T>G p.L116V Missense 5/42 - 1
16-2104318-A-G c.358A>G p.R120G Missense 5/42 - 5
16-2104324-CT-GG c.364_365delinsGG p.L122G Missense 5/42 - 1
16-2104336-G-T c.376G>T p.V126F Missense 5/42 - 1
16-2104340-T-C c.380T>C p.I127T Missense 5/42 - 1
16-2104342-A-C c.382A>C p.K128Q Missense 5/42 - 1
16-2104349-A-G c.389A>G p.Y130C Missense 5/42 - 1
16-2104349-TA-T c.389del p.Y130Sfs*52 Frameshift 5/42 - 1
16-2104350-C-A c.390C>A p.Y130* Nonsense 5/42 - 1
16-2104350-C-G c.390C>G p.Y130* Nonsense 5/42 - 1
16-2104355-C-G c.395C>G p.S132C Missense 5/42 - 3
16-2104358-A-T c.398A>T p.N133I Missense 5/42 - 2
16-2104360-G-A c.400G>A p.E134K Missense 5/42 - 1
16-2104360-G-T c.400G>T p.E134* Nonsense 5/42 - 1
16-2104370-A-G c.410A>G p.H137R Missense 5/42 - 1
16-2104372-G-T c.412G>T p.E138* Nonsense 5/42 - 1
16-2104375-AG-CT c.415_416inv p.R139L Missense 5/42 - 1
16-2104375-AGG-CAT c.415_417delinsCAT p.R139H Missense 5/42 - 1
16-2104381-G-T c.421G>T p.E141* Nonsense 5/42 - 1
16-2104384-G-A c.424G>A p.V142I Missense 5/42 - 1
16-2104387-T-C c.427T>C p.F143L Missense 5/42 - 3
16-2104389-C-A c.429C>A p.F143L Missense 5/42 - 3
16-2104389-C-G c.429C>G p.F143L Missense 5/42 - 3
16-2104389-C-CA c.431dup p.A145Gfs*18 Frameshift 5/42 - 1
16-2104393-G-A c.433G>A p.A145T Missense 5/42 - 2
16-2104393-G-T c.433G>T p.A145S Missense 5/42 - 1
16-2104397-T-G c.437T>G p.L146R Missense 5/42 - 2
16-2104400-C-A c.440C>A p.T147K Missense 5/42 - 1
16-2104402-GAC-G c.444_445del p.D148Efs*14 Frameshift 5/42 - 1
16-2104404-C-A c.444C>A p.D148E Missense 5/42 - 1
16-2104404-C-G c.444C>G p.D148E Missense 5/42 - 1
16-2104405-A-G c.445A>G p.N149D Missense 5/42 - 1
16-2104406-A-T c.446A>T p.N149I Missense 5/42 - 1
16-2104408-G-A c.448G>A p.G150R Missense 5/42 - 1
16-2104409-GG-AC c.449_450delinsAC p.G150D Missense 5/42 - 1
16-2104411-A-T c.451A>T p.R151* Nonsense 5/42 - 1
16-2104414-C-G c.454C>G p.H152D Missense 5/42 - 2
16-2104419-TC-T c.459del p.T154Pfs*28 Frameshift 5/42 - 1
16-2104421-C-T c.461C>T p.T154I Missense 5/42 - 1
16-2104426-T-C c.466T>C p.L156= Synonymous 5/42 - 1
16-2104430-A-G c.470A>G p.E157G Missense 5/42 - 1
16-2104434-A-C c.474A>C p.E158D Missense 5/42 - 1
16-2104434-A-T c.474A>T p.E158D Missense 5/42 - 1
16-2104435-G-T c.475G>T p.E159* Nonsense 5/42 - 2
16-2104438-C-G c.478C>G p.L160V Missense 5/42 - 1
16-2104441-G-A c.481G>A p.A161T Missense 5/42 - 1
16-2104442-G-A c.481+1G>A - IntronicSNV - 5/41 1
16-2104446-G-A c.481+5G>A - IntronicSNV - 5/41 1
16-2104446-G-T c.481+5G>T - IntronicSNV - 5/41 1
16-2105055-A-C c.482-348A>C - IntronicSNV - 5/41 7
16-2105055-A-G c.482-348A>G - IntronicSNV - 5/41 7
16-2105289-T-C c.482-114T>C - IntronicSNV - 5/41 1
16-2105335-C-G c.482-68C>G - IntronicSNV - 5/41 1
16-2105335-C-T c.482-68C>T - IntronicSNV - 5/41 1
16-2105387-G-A c.482-16G>A - IntronicSNV - 5/41 1
16-2105387-G-C c.482-16G>C - IntronicSNV - 5/41 1
16-2105387-G-T c.482-16G>T - IntronicSNV - 5/41 1
16-2105400-C-T c.482-3C>T - IntronicSNV - 5/41 2
16-2105403-C-T c.482C>T p.A161V Missense 6/42 - 1
16-2105405-G-A c.484G>A p.D162N Missense 6/42 - 2
16-2105409-T-C c.488T>C p.F163S Missense 6/42 - 1
16-2105417-C-T c.496C>T p.Q166* Nonsense 6/42 - 1
16-2105417-C-CA c.497dup p.W167Vfs*22 Frameshift 6/42 - 1
16-2105420-T-A c.499T>A p.W167R Missense 6/42 - 1
16-2105420-T-C c.499T>C p.W167R Missense 6/42 - 2
16-2105421-G-T c.500G>T p.W167L Missense 6/42 - 2
16-2105422-G-A c.501G>A p.W167* Nonsense 6/42 - 1
16-2105423-A-C c.502A>C p.M168L Missense 6/42 - 1
16-2105423-A-T c.502A>T p.M168L Missense 6/42 - 1
16-2105442-C-T c.521C>T p.S174L Missense 6/42 - 3
16-2105450-C-T c.529C>T p.L177F Missense 6/42 - 1
16-2105454-TG-AT c.533_534delinsAT p.L178H Missense 6/42 - 1
16-2105459-C-A c.538C>A p.L180M Missense 6/42 - 1
16-2105459-C-G c.538C>G p.L180V Missense 6/42 - 1
16-2105459-C-T c.538C>T p.L180= Synonymous 6/42 - 1
16-2105469-T-G c.548T>G p.L183W Missense 6/42 - 1
16-2105472-T-A c.551T>A p.V184D Missense 6/42 - 1
16-2105476-AT-A c.557del p.F186Sfs*16 Frameshift 6/42 - 1
16-2105479-C-G c.558C>G p.F186L Missense 6/42 - 1
16-2105480-A-C c.559A>C p.N187H Missense 6/42 - 1
16-2105481-A-G c.560A>G p.N187S Missense 6/42 - 1
16-2105481-A-T c.560A>T p.N187I Missense 6/42 - 1
16-2105489-T-TA c.569dup p.Y190* Nonsense 6/42 - 1
16-2105503-AC-A c.582del p.Y194* Frameshift 6/42 - 1
16-2105507-G-A c.586G>A p.A196T Missense 6/42 - 4
16-2105514-T-C c.593T>C p.M198T Missense 6/42 - 1
16-2105523-A-G c.599+3A>G - IntronicSNV - 6/41 1
16-2106206-T-A c.609T>A p.C203* Nonsense 7/42 - 1
16-2106215-GC-G c.618del p.C206Wfs*10 Frameshift 7/42 - 1
16-2106220-G-A c.623G>A p.R208Q Missense 7/42 - 2
16-2106228-T-G c.631T>G p.S211A Missense 7/42 - 1
16-2106228-TC-T c.633del p.S212Lfs*4 Frameshift 7/42 - 1
16-2106230-C-T c.633C>T p.S211= Synonymous 7/42 - 1
16-2106231-T-G c.634T>G p.S212A Missense 7/42 - 1
16-2106235-T-C c.638T>C p.V213A Missense 7/42 - 1
16-2106240-A-C c.643A>C p.I215L Missense 7/42 - 1
16-2106240-A-T c.643A>T p.I215L Missense 7/42 - 1
16-2106645-GTC-ATG c.649_651delinsATG p.V217M Missense 8/42 - 1
16-2106646-T-TCA c.651_652insAC p.S218Tfs*43 Frameshift 8/42 - 1
16-2106648-T-G c.652T>G p.S218A Missense 8/42 - 1
16-2106649-C-G c.653C>G p.S218C Missense 8/42 - 1
16-2106648-T-TC c.655dup p.L219Pfs*16 Frameshift 8/42 - 1
16-2106652-T-C c.656T>C p.L219P Missense 8/42 - 1
16-2106659-G-A c.663G>A p.V221= Synonymous 8/42 - 1
16-2106661-T-C c.665T>C p.L222P Missense 8/42 - 1
16-2106663-G-A c.667G>A p.D223N Missense 8/42 - 1
16-2106663-G-GA c.668dup p.D223Efs*12 Frameshift 8/42 - 1
16-2106669-G-A c.673G>A p.V225M Missense 8/42 - 1
16-2106677-CTACAACTGCCTGCCGGCTGAGAGCCTCCCGCTGT-C c.683_716del p.Y228Sfs*21 Frameshift 8/42 - 1
16-2106682-ACTGC-A c.692_695del p.L231Rfs*28 Frameshift 8/42 - 1
16-2106690-C-T c.694C>T p.P232S Missense 8/42 - 1
16-2106694-C-CT c.699dup p.E234* Nonsense 8/42 - 1
16-2106696-G-A c.700G>A p.E234K Missense 8/42 - 2
16-2106697-A-G c.701A>G p.E234G Missense 8/42 - 1
16-2106698-G-GC c.702_703insC p.S235Qfs*103 Frameshift 8/42 - 1
16-2106699-AG-CC c.703_704delinsCC p.S235P Missense 8/42 - 1
16-2106712-TTCATC-T c.716_720del p.F239Cfs*97 Frameshift 8/42 - 1
16-2106720-A-T c.724A>T p.T242S Missense 8/42 - 1
16-2106721-C-G c.725C>G p.T242S Missense 8/42 - 1
16-2106722-CCTCTGTCG-C c.728_735del p.L243Hfs*92 Frameshift 8/42 - 2
16-2106725-TC-T c.729del p.C244Vfs*16 Frameshift 8/42 - 1
16-2106726-T-C c.730T>C p.C244R Missense 8/42 - 4
16-2106727-G-A c.731G>A p.C244Y Missense 8/42 - 2
16-2106727-G-T c.731G>T p.C244F Missense 8/42 - 1
16-2106732-A-G c.736A>G p.T246A Missense 8/42 - 2
16-2106735-A-G c.739A>G p.I247V Missense 8/42 - 1
16-2106735-CAT-C c.739_740del p.I247Qfs*90 Frameshift 8/42 - 1
16-2106744-AA-GC c.748_749delinsGC p.K250A Missense 8/42 - 1
16-2106747-G-T c.751G>T p.E251* Nonsense 8/42 - 1
16-2106755-C-A c.759C>A p.C253* Nonsense 8/42 - 1
16-2106755-C-T c.759C>T p.C253= Synonymous 8/42 - 1
16-2106756-G-A c.760G>A p.E254K Missense 8/42 - 2
16-2106759-C-T c.763C>T p.P255S Missense 8/42 - 1
16-2106766-G-A c.770G>A p.W257* Nonsense 8/42 - 1
16-2106767-G-A c.771G>A p.W257* Nonsense 8/42 - 1
16-2106770-G-A c.774G>A p.K258= Synonymous 8/42 - 1
16-2106770-G-C c.774G>C p.K258N Missense 8/42 - 1
16-2106771-G-A c.774+1G>A - IntronicSNV - 8/41 1
16-2106771-G-T c.774+1G>T - IntronicSNV - 8/41 1
16-2106775-G-A c.774+5G>A - IntronicSNV - 8/41 1
16-2107107-T-C c.776T>C p.L259P Missense 9/42 - 1
16-2107112-C-T c.781C>T p.R261W Missense 9/42 - 2
16-2107113-G-A c.782G>A p.R261Q Missense 9/42 - 1
16-2107113-G-C c.782G>C p.R261P Missense 9/42 - 1
16-2107115-A-G c.784A>G p.N262D Missense 9/42 - 1
16-2107118-C-T c.787C>T p.L263F Missense 9/42 - 1
16-2107119-T-TC c.790dup p.L264Pfs*74 Frameshift 9/42 - 1
16-2107121-CCT-C c.790_791del p.L264Wfs*73 Frameshift 9/42 - 1
16-2107122-T-C c.791T>C p.L264P Missense 9/42 - 1
16-2107145-G-A c.814G>A p.A272T Missense 9/42 - 4
16-2107151-T-A c.820T>A p.Y274N Missense 9/42 - 1
16-2107157-A-G c.826A>G p.M276V Missense 9/42 - 1
16-2107157-CA-C c.826del p.M276Cfs*17 Frameshift 9/42 - 1
16-2107157-CAT-C c.826_827del p.M276Vfs*61 Frameshift 9/42 - 1
16-2107164-A-C c.833A>C p.H278P Missense 9/42 - 1
16-2107165-C-T c.834C>T p.H278= Synonymous 9/42 - 1
16-2107169-A-G c.838A>G p.M280V Missense 9/42 - 1
16-2107170-T-A c.839T>A p.M280K Missense 9/42 - 1
16-2107170-T-C c.839T>C p.M280T Missense 9/42 - 1
16-2107171-G-T c.840G>T p.M280I Missense 9/42 - 1
16-2107174-G-C c.843G>C p.E281D Missense 9/42 - 1
16-2107174-G-T c.843G>T p.E281D Missense 9/42 - 1
16-2107180-G-A c.848+1G>A - IntronicSNV - 9/41 1
16-2107182-TG-T c.848+3del - IntronicDeletion - 9/41 1
16-2107186-G-T c.848+7G>T - IntronicSNV - 9/41 1
16-2107460-C-T c.848+281C>T - IntronicSNV - 9/41 2
16-2108755-A-G c.856A>G p.M286V Missense 10/42 - 7
16-2108756-T-C c.857T>C p.M286T Missense 10/42 - 1
16-2108765-C-T c.866C>T p.A289V Missense 10/42 - 2
16-2108768-C-G c.869C>G p.P290R Missense 10/42 - 1
16-2108774-T-C c.875T>C p.L292P Missense 10/42 - 2
16-2108779-G-A c.880G>A p.G294R Missense 10/42 - 1
16-2108779-G-C c.880G>C p.G294R Missense 10/42 - 1
16-2108780-G-A c.881G>A p.G294E Missense 10/42 - 5
16-2108780-G-T c.881G>T p.G294V Missense 10/42 - 2
16-2108783-C-T c.884C>T p.A295V Missense 10/42 - 1
16-2108785-G-A c.886G>A p.V296M Missense 10/42 - 1
16-2108788-T-G c.889T>G p.F297V Missense 10/42 - 1
16-2108787-G-GT c.894dup p.V299Cfs*39 Frameshift 10/42 - 3
16-2108787-GT-G c.894del p.F298Lfs*65 Frameshift 10/42 - 2
16-2108795-T-G c.896T>G p.V299G Missense 10/42 - 4
16-2108798-G-A c.899G>A p.G300D Missense 10/42 - 1
16-2108798-G-T c.899G>T p.G300V Missense 10/42 - 2
16-2108801-TGGCTCTCTGGGGAGCCCACC-T c.909_928del p.W304Ffs*27 Frameshift 10/42 - 1
16-2108809-CT-C c.910del p.W304Gfs*59 Frameshift 10/42 - 1
16-2108809-T-C c.910T>C p.W304R Missense 10/42 - 1
16-2108810-G-A c.911G>A p.W304* Nonsense 10/42 - 1
16-2108811-G-A c.912G>A p.W304* Nonsense 10/42 - 1
16-2108812-G-T c.913G>T p.G305* Nonsense 10/42 - 1
16-2108815-G-A c.916G>A p.A306T Missense 10/42 - 2
16-2108821-C-T c.922C>T p.R308W Missense 10/42 - 3
16-2108829-TTC-T c.935_936del p.L312Qfs*25 Frameshift 10/42 - 1
16-2108843-C-T c.944C>T p.S315L Missense 10/42 - 1
16-2108843-C-CG c.945dup p.P316Afs*22 Frameshift 10/42 - 1
16-2108847-G-A c.948G>A p.P316= Synonymous 10/42 - 1
16-2108851-T-G c.952T>G p.S318A Missense 10/42 - 6
16-2108859-G-C c.960G>C p.L320F Missense 10/42 - 1
16-2108859-G-T c.960G>T p.L320F Missense 10/42 - 1
16-2108871-C-A c.972C>A p.Y324* Nonsense 10/42 - 1
16-2108871-C-G c.972C>G p.Y324* Nonsense 10/42 - 2
16-2108872-C-T c.973C>T p.Q325* Nonsense 10/42 - 2
16-2108882-G-A c.975+8G>A - IntronicSNV - 10/41 1
16-2110571-C-G c.976-100C>G - IntronicSNV - 10/41 3
16-2110571-C-T c.976-100C>T - IntronicSNV - 10/41 3
16-2110672-GCCATGGCATGTCCGAACGAGGTGGTGTCCTATGAGATCGTCCTGTCCATCACCAGGCTC-G c.977_1035del p.A326Dfs*5 InFrameDeletion 11/42 - 1
16-2110676-G-T c.981G>T p.M327I Missense 11/42 - 1
16-2110677-G-C c.982G>C p.A328P Missense 11/42 - 2
16-2110684-C-T c.989C>T p.P330L Missense 11/42 - 2
16-2110685-G-GT c.990_991insT p.N331* Nonsense 11/42 - 1
16-2110691-G-C c.996G>C p.E332D Missense 11/42 - 1
16-2110693-TG-T c.1000del p.V334Cfs*29 Frameshift 11/42 - 1
16-2110696-T-G c.1001T>G p.V334G Missense 11/42 - 2
16-2110698-T-G c.1003T>G p.S335A Missense 11/42 - 1
16-2110703-T-G c.1008T>G p.Y336* Nonsense 11/42 - 2
16-2110704-G-A c.1009G>A p.E337K Missense 11/42 - 3
16-2110714-T-C c.1019T>C p.L340P Missense 11/42 - 2
16-2110716-T-A c.1021T>A p.S341T Missense 11/42 - 1
16-2110716-T-C c.1021T>C p.S341P Missense 11/42 - 1
16-2110716-T-G c.1021T>G p.S341A Missense 11/42 - 2
16-2110717-CC-GG c.1022_1023inv p.S341W Missense 11/42 - 1
16-2110717-C-T c.1022C>T p.S341F Missense 11/42 - 1
16-2110728-C-T c.1033C>T p.L345F Missense 11/42 - 2
16-2110729-T-G c.1034T>G p.L345R Missense 11/42 - 1
16-2110735-A-G c.1040A>G p.K347R Missense 11/42 - 2
16-2110742-T-A c.1047T>A p.Y349* Nonsense 11/42 - 1
16-2110742-T-G c.1047T>G p.Y349* Nonsense 11/42 - 1
16-2110755-C-T c.1060C>T p.Q354* Nonsense 11/42 - 1
16-2110756-A-G c.1061A>G p.Q354R Missense 11/42 - 1
16-2110765-C-A c.1070C>A p.A357E Missense 11/42 - 1
16-2110765-C-T c.1070C>T p.A357V Missense 11/42 - 4
16-2110768-G-A c.1073G>A p.W358* Nonsense 11/42 - 3
16-2110769-G-A c.1074G>A p.W358* Nonsense 11/42 - 3
16-2110772-C-A c.1077C>A p.D359E Missense 11/42 - 1
16-2110773-A-G c.1078A>G p.I360V Missense 11/42 - 1
16-2110773-A-AT c.1080dup p.L361Sfs*26 Frameshift 11/42 - 1
16-2110776-C-G c.1081C>G p.L361V Missense 11/42 - 2
16-2110777-T-C c.1082T>C p.L361P Missense 11/42 - 1
16-2110780-T-C c.1085T>C p.L362P Missense 11/42 - 1
16-2110787-C-G c.1092C>G p.I364M Missense 11/42 - 1
16-2110783-ACAT-A c.1093_1095del p.I365del InFrameDeletion 11/42 - 2
16-2110791-G-A c.1096G>A p.E366K Missense 11/42 - 1
16-2110795-G-A c.1100G>A p.R367Q Missense 11/42 - 8
16-2110795-G-C c.1100G>C p.R367P Missense 11/42 - 2
16-2110801-T-C c.1106T>C p.L369P Missense 11/42 - 1
16-2110803-C-A c.1108C>A p.Q370K Missense 11/42 - 1
16-2110803-C-T c.1108C>T p.Q370* Nonsense 11/42 - 3
16-2110805-G-A c.1110G>A p.Q370= Synonymous 11/42 - 1
16-2110807-A-C c.1112A>C p.Q371P Missense 11/42 - 1
16-2110812-C-T c.1117C>T p.Q373* Nonsense 11/42 - 2
16-2110813-A-C c.1118A>C p.Q373P Missense 11/42 - 2
16-2110814-G-A c.1119G>A p.Q373= Synonymous 11/42 - 1
16-2110815-G-A c.1119+1G>A - IntronicSNV - 11/41 1
16-2110815-G-C c.1119+1G>C - IntronicSNV - 11/41 1
16-2110816-T-G c.1119+2T>G - IntronicSNV - 11/41 1
16-2111230-A-G c.1119+416A>G - IntronicSNV - 11/41 2
16-2111779-T-C c.1120-93T>C - IntronicSNV - 11/41 2
16-2111868-GCAGACCTTGGA-G c.1120_1130del p.T374Pfs*9 SpliceAcceptorDeletion 12/42 - 1
16-2111872-A-G c.1120A>G p.T374A Missense 12/42 - 1
16-2111872-GACCTTGGACAGCCCGGAGCTCAGGACCATCGTCCATGACCTGTTGACCACGGTGGAGGA-G c.1120_1178del p.T374Afs*3 Unclassified 12/42 - 1
16-2111891-T-C c.1139T>C p.L380P Missense 12/42 - 1
16-2111894-G-A c.1142G>A p.R381K Missense 12/42 - 1
16-2111902-G-A c.1150G>A p.V384I Missense 12/42 - 2
16-2111902-GT-CC c.1150_1151delinsCC p.V384P Missense 12/42 - 1
16-2111912-T-C c.1160T>C p.L387P Missense 12/42 - 1
16-2111917-A-C c.1165A>C p.T389P Missense 12/42 - 2
16-2111917-ACC-GAG c.1165_1167delinsGAG p.T389E Missense 12/42 - 8
16-2111917-AC-GA c.1165_1166delinsGA p.T389D Missense 12/42 - 1
16-2111917-A-G c.1165A>G p.T389A Missense 12/42 - 5
16-2111923-G-A c.1171G>A p.V391M Missense 12/42 - 1
16-2111926-G-T c.1174G>T p.E392* Nonsense 12/42 - 1
16-2111928-G-A c.1176G>A p.E392= Synonymous 12/42 - 1
16-2111929-G-T c.1177G>T p.E393* Nonsense 12/42 - 1
16-2111941-C-T c.1189C>T p.Q397* Nonsense 12/42 - 1
16-2111939-ACCAGAACGAGTT-A c.1191_1202del p.Q397_F400del InFrameDeletion 12/42 - 1
16-2111947-G-T c.1195G>T p.E399* Nonsense 12/42 - 1
16-2111956-G-A c.1204G>A p.G402R Missense 12/42 - 1
16-2111956-G-C c.1204G>C p.G402R Missense 12/42 - 1
16-2111956-G-GCGACGCACCTCGGCGGCTCCAGCTGCTCCACCTGCAGCGCGC c.1204_1205insCGACGCACCTCGGCGGCTCCAGCTGCTCCACCTGCAGCGCGC p.G402delinsATHLGGSSCSTCSAR MultiAAMissense 12/42 - 1
16-2111956-GGG-AGC c.1204_1206delinsAGC p.G402S Missense 12/42 - 1
16-2111962-C-T c.1210C>T p.Q404* Nonsense 12/42 - 1
16-2111969-G-C c.1217G>C p.R406T Missense 12/42 - 1
16-2111971-T-G c.1219T>G p.Y407D Missense 12/42 - 1
16-2111963-AGGAGAGATACTTTGAACTGGT-A c.1220_1240del p.Y407_R413del InFrameDeletion 12/42 - 2
16-2111974-T-G c.1222T>G p.F408V Missense 12/42 - 2
16-2111975-TTGAAC-T c.1226_1230del p.E409Gfs*10 Frameshift 12/42 - 1
16-2111980-C-CG c.1228_1229insG p.L410Rfs*11 Frameshift 12/42 - 1
16-2111981-T-G c.1229T>G p.L410R Missense 12/42 - 2
16-2111983-GTG-ATC c.1231_1233delinsATC p.V411I Missense 12/42 - 1
16-2111986-G-A c.1234G>A p.E412K Missense 12/42 - 1
16-2111986-GA-TC c.1234_1235inv p.E412S Missense 12/42 - 2
16-2111987-A-T c.1235A>T p.E412V Missense 12/42 - 1
16-2111989-GAGA-G c.1237_1239del p.R413del InFrameDeletion 12/42 - 1
16-2111996-C-T c.1244C>T p.A415V Missense 12/42 - 4
16-2112001-C-T c.1249C>T p.Q417* Nonsense 12/42 - 2
16-2112004-AG-CC c.1252_1253delinsCC p.R418P Missense 12/42 - 1
16-2112006-G-C c.1254G>C p.R418S Missense 12/42 - 1
16-2112006-G-T c.1254G>T p.R418S Missense 12/42 - 1
16-2112007-C-T c.1255C>T p.P419S Missense 12/42 - 2
16-2112498-G-T c.1258G>T p.E420* Nonsense 13/42 - 1
16-2112504-CT-C c.1264del p.S422Pfs*3 Frameshift 13/42 - 1
16-2112504-T-C c.1264T>C p.S422P Missense 13/42 - 1
16-2112504-TCC-GAG c.1264_1266delinsGAG p.S422E Missense 13/42 - 1
16-2112504-TC-GA c.1264_1265inv p.S422D Missense 13/42 - 4
16-2112504-T-G c.1264T>G p.S422A Missense 13/42 - 3
16-2112505-C-T c.1265C>T p.S422F Missense 13/42 - 1
16-2112510-C-G c.1270C>G p.L424V Missense 13/42 - 1
16-2112510-C-T c.1270C>T p.L424= Synonymous 13/42 - 1
16-2112512-G-C c.1272G>C p.L424= Synonymous 13/42 - 1
16-2112521-C-G c.1281C>G p.I427M Missense 13/42 - 1
16-2112522-T-G c.1282T>G p.S428A Missense 13/42 - 1
16-2112520-TCTC-T c.1283_1285del p.S428del InFrameDeletion 13/42 - 2
16-2112526-A-AT c.1287dup p.R430* Nonsense 13/42 - 1
16-2112532-C-T c.1292C>T p.A431V Missense 13/42 - 5
16-2112534-C-T c.1294C>T p.Q432* Nonsense 13/42 - 1
16-2112546-C-G c.1306C>G p.P436A Missense 13/42 - 1
16-2112558-G-A c.1318G>A p.G440S Missense 13/42 - 4
16-2112562-G-A c.1322G>A p.W441* Nonsense 13/42 - 1
16-2112563-G-A c.1323G>A p.W441* Nonsense 13/42 - 1
16-2112567-C-T c.1327C>T p.Q443* Nonsense 13/42 - 1
16-2112574-T-TA c.1334_1335insA p.Q446Afs*36 Frameshift 13/42 - 1
16-2112576-C-T c.1336C>T p.Q446* Nonsense 13/42 - 1
16-2112582-C-G c.1342C>G p.L448V Missense 13/42 - 1
16-2112582-C-T c.1342C>T p.L448= Synonymous 13/42 - 1
16-2112583-T-C c.1343T>C p.L448P Missense 13/42 - 2
16-2112583-T-G c.1343T>G p.L448R Missense 13/42 - 2
16-2112585-A-C c.1345A>C p.M449L Missense 13/42 - 1
16-2112585-A-T c.1345A>T p.M449L Missense 13/42 - 2
16-2112588-G-T c.1348G>T p.E450* Nonsense 13/42 - 2
16-2112591-AGA-TGT c.1351_1353delinsTGT p.R451C Missense 13/42 - 9
16-2112973-G-C c.1362G>C p.R454S Missense 14/42 - 1
16-2112983-C-T c.1372C>T p.R458* Nonsense 14/42 - 8
16-2112984-G-A c.1373G>A p.R458Q Missense 14/42 - 1
16-2112989-G-A c.1378G>A p.A460T Missense 14/42 - 11
16-2112990-C-G c.1379C>G p.A460G Missense 14/42 - 1
16-2112995-C-G c.1384C>G p.R462G Missense 14/42 - 1
16-2112995-C-T c.1384C>T p.R462C Missense 14/42 - 2
16-2112996-G-A c.1385G>A p.R462H Missense 14/42 - 2
16-2112996-G-C c.1385G>C p.R462P Missense 14/42 - 1
16-2112998-A-G c.1387A>G p.I463V Missense 14/42 - 3
16-2113001-AA-GC c.1390_1391delinsGC p.K464A Missense 14/42 - 1
16-2113008-T-C c.1397T>C p.L466P Missense 14/42 - 1
16-2113008-T-G c.1397T>G p.L466R Missense 14/42 - 1
16-2113019-T-G c.1408T>G p.S470A Missense 14/42 - 1
16-2113025-G-A c.1414G>A p.V472M Missense 14/42 - 1
16-2113023-TTG-T c.1415_1416del p.V472Afs*9 Frameshift 14/42 - 1
16-2113041-G-A c.1430G>A p.R477K Missense 14/42 - 1
16-2113042-GCAGTT-G c.1433_1437del p.Q478Lfs*2 Frameshift 14/42 - 1
16-2113125-A-G c.1443+71A>G - IntronicSNV - 14/41 1
16-2113134-C-T c.1443+80C>T - IntronicSNV - 14/41 1
16-2113464-C-T c.1443+410C>T - IntronicSNV - 14/41 1
16-2114273-G-C c.1444G>C p.E482Q Missense 15/42 - 1
16-2114276-G-T c.1447G>T p.E483* Nonsense 15/42 - 1
16-2114280-CTG-C c.1451_1452del p.L484Hfs*2 Frameshift 15/42 - 1
16-2114282-A-C c.1453A>C p.I485L Missense 15/42 - 1
16-2114286-A-T c.1457A>T p.N486I Missense 15/42 - 1
16-2114288-T-G c.1459T>G p.S487A Missense 15/42 - 2
16-2114289-CA-GT c.1460_1461delinsGT p.S487C Missense 15/42 - 1
16-2114290-CAG-C c.1461_1462del p.V488Gfs*12 Frameshift 15/42 - 1
16-2114297-A-C c.1468A>C p.I490L Missense 15/42 - 2
16-2114302-G-A c.1473G>A p.S491= Synonymous 15/42 - 1
16-2114306-C-G c.1477C>G p.L493V Missense 15/42 - 3
16-2114307-T-C c.1478T>C p.L493P Missense 15/42 - 2
16-2114310-C-T c.1481C>T p.S494F Missense 15/42 - 1
16-2114316-TC-T c.1491del p.E498Rfs*37 Frameshift 15/42 - 1
16-2114331-AC-A c.1504del p.H502Tfs*33 Frameshift 15/42 - 1
16-2114336-C-T c.1507C>T p.Q503* Nonsense 15/42 - 1
16-2114340-T-A c.1511T>A p.V504D Missense 15/42 - 1
16-2114341-CC-TT c.1512_1513delinsTT p.R505* Missense 15/42 - 1
16-2114342-C-T c.1513C>T p.R505* Nonsense 15/42 - 15
16-2114343-G-A c.1514G>A p.R505Q Missense 15/42 - 2
16-2114360-T-G c.1531T>G p.L511V Missense 15/42 - 1
16-2114370-A-G c.1541A>G p.D514G Missense 15/42 - 1
16-2114372-C-G c.1543C>G p.L515V Missense 15/42 - 1
16-2114377-A-AT c.1548_1549insT p.E517* Nonsense 15/42 - 1
16-2114382-G-C c.1553G>C p.G518A Missense 15/42 - 1
16-2114385-G-A c.1556G>A p.C519Y Missense 15/42 - 1
16-2114385-GCCACACA-G c.1558_1564del p.H520Tfs*13 Frameshift 15/42 - 1
16-2114391-C-G c.1562C>G p.T521R Missense 15/42 - 1
16-2114393-CA-AC c.1564_1565delinsAC p.H522T Missense 15/42 - 4
16-2114403-A-G c.1574A>G p.N525S Missense 15/42 - 3
16-2114405-A-AG c.1577dup p.S526Rfs*63 Frameshift 15/42 - 1
16-2114406-G-A c.1577G>A p.S526N Missense 15/42 - 1
16-2114407-C-T c.1578C>T p.S526= Synonymous 15/42 - 2
16-2114416-C-A c.1587C>A p.D529E Missense 15/42 - 1
16-2114422-C-T c.1593C>T p.I531= Synonymous 15/42 - 2
16-2114423-G-A c.1594G>A p.E532K Missense 15/42 - 1
16-2114423-G-T c.1594G>T p.E532* Nonsense 15/42 - 1
16-2114424-A-G c.1595A>G p.E532G Missense 15/42 - 1
16-2114423-GAGA-G c.1597_1599del p.K533del InFrameDeletion 15/42 - 2
16-2114426-A-C c.1597A>C p.K533Q Missense 15/42 - 2
16-2114430-T-C c.1599+2T>C - IntronicSNV - 15/41 1
16-2114430-T-G c.1599+2T>G - IntronicSNV - 15/41 1
16-2114438-G-A c.1599+10G>A - IntronicSNV - 15/41 1
16-2114644-T-G c.1599+216T>G - IntronicSNV - 15/41 1
16-2115520-GTG-ATC c.1600_1602delinsATC p.V534I Missense 16/42 - 1
16-2115526-G-A c.1606G>A p.A536T Missense 16/42 - 1
16-2115527-C-A c.1607C>A p.A536D Missense 16/42 - 1
16-2115523-ATGGCCCGCTCCCTCTCCCCACCCCCGGAGCTGGAAGAAAGGGATG-A c.1609_1653del p.R537_A551del InFrameDeletion 16/42 - 1
16-2115529-C-T c.1609C>T p.R537C Missense 16/42 - 3
16-2115535-C-T c.1615C>T p.L539F Missense 16/42 - 1
16-2115538-TC-GA c.1618_1619inv p.S540D Missense 16/42 - 1
16-2115538-T-G c.1618T>G p.S540A Missense 16/42 - 1
16-2115545-C-G c.1625C>G p.P542R Missense 16/42 - 1
16-2115547-C-G c.1627C>G p.P543A Missense 16/42 - 1
16-2115548-C-T c.1628C>T p.P543L Missense 16/42 - 1
16-2115559-G-GA c.1642dup p.R548Kfs*41 Frameshift 16/42 - 1
16-2115563-G-T c.1643G>T p.R548M Missense 16/42 - 2
16-2115564-G-T c.1644G>T p.R548S Missense 16/42 - 1
16-2115568-GTG-ATC c.1648_1650delinsATC p.V550I Missense 16/42 - 1
16-2115574-G-A c.1654G>A p.A552T Missense 16/42 - 1
16-2115578-A-G c.1658A>G p.Y553C Missense 16/42 - 1
16-2115583-G-C c.1663G>C p.A555P Missense 16/42 - 1
16-2115587-C-T c.1667C>T p.S556F Missense 16/42 - 1
16-2115590-T-A c.1670T>A p.L557* Nonsense 16/42 - 1
16-2115596-A-T c.1676A>T p.D559V Missense 16/42 - 1
16-2115598-G-A c.1678G>A p.V560M Missense 16/42 - 1
16-2115599-T-G c.1679T>G p.V560G Missense 16/42 - 1
16-2115603-G-C c.1683G>C p.K561N Missense 16/42 - 1
16-2115603-G-T c.1683G>T p.K561N Missense 16/42 - 1
16-2115611-TC-T c.1693del p.L565Wfs*133 Frameshift 16/42 - 1
16-2115634-C-T c.1714C>T p.Q572* Nonsense 16/42 - 1
16-2115819-A-C c.1716+183A>C - IntronicSNV - 16/41 5
16-2115819-A-G c.1716+183A>G - IntronicSNV - 16/41 5
16-2119187-T-C c.1717-1270T>C - IntronicSNV - 16/41 1
16-2119771-G-A c.1717-686G>A - IntronicSNV - 16/41 2
16-2120402-T-C c.1717-55T>C - IntronicSNV - 16/41 3
16-2120464-T-C c.1724T>C p.L575P Missense 17/42 - 2
16-2120466-TA-GC c.1726_1727delinsGC p.Y576A Missense 17/42 - 1
16-2120487-G-A c.1747G>A p.A583T Missense 17/42 - 4
16-2120491-C-T c.1751C>T p.T584M Missense 17/42 - 2
16-2120493-C-T c.1753C>T p.R585C Missense 17/42 - 1
16-2120494-G-A c.1754G>A p.R585H Missense 17/42 - 1
16-2120493-CGT-C c.1758_1759del p.Y587* Frameshift 17/42 - 2
16-2120501-T-A c.1761T>A p.Y587* Nonsense 17/42 - 2
16-2120501-T-G c.1761T>G p.Y587* Nonsense 17/42 - 2
16-2120502-G-A c.1762G>A p.E588K Missense 17/42 - 1
16-2120509-T-G c.1769T>G p.L590R Missense 17/42 - 1
16-2120511-G-A c.1771G>A p.V591I Missense 17/42 - 1
16-2120518-A-G c.1778A>G p.H593R Missense 17/42 - 1
16-2120523-C-G c.1783C>G p.Q595E Missense 17/42 - 1
16-2120523-C-T c.1783C>T p.Q595* Nonsense 17/42 - 1
16-2120529-C-A c.1789C>A p.H597N Missense 17/42 - 1
16-2120529-C-T c.1789C>T p.H597Y Missense 17/42 - 3
16-2120530-A-C c.1790A>C p.H597P Missense 17/42 - 1
16-2120530-A-G c.1790A>G p.H597R Missense 17/42 - 3
16-2120530-A-T c.1790A>T p.H597L Missense 17/42 - 2
16-2120532-TA-CT c.1792_1793delinsCT p.Y598L Missense 17/42 - 1
16-2120532-T-C c.1792T>C p.Y598H Missense 17/42 - 5
16-2120533-A-C c.1793A>C p.Y598S Missense 17/42 - 1
16-2120533-A-G c.1793A>G p.Y598C Missense 17/42 - 1
16-2120534-C-G c.1794C>G p.Y598* Nonsense 17/42 - 1
16-2120536-A-T c.1796A>T p.K599M Missense 17/42 - 3
16-2120542-AGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGC-A c.1802_1839+21del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 17/42 17/41 1
16-2120543-C-G c.1803C>G p.S601R Missense 17/42 - 1
16-2120544-T-C c.1804T>C p.Y602H Missense 17/42 - 1
16-2120547-A-T c.1807A>T p.T603S Missense 17/42 - 1
16-2120548-C-G c.1808C>G p.T603S Missense 17/42 - 1
16-2120548-C-T c.1808C>T p.T603I Missense 17/42 - 1
16-2120550-CT-AC c.1810_1811delinsAC p.L604T Missense 17/42 - 1
16-2120552-G-T c.1812G>T p.L604= Synonymous 17/42 - 1
16-2120556-A-G c.1816A>G p.I606V Missense 17/42 - 2
16-2120559-G-A c.1819G>A p.A607T Missense 17/42 - 6
16-2120559-G-T c.1819G>T p.A607S Missense 17/42 - 1
16-2120560-C-A c.1820C>A p.A607E Missense 17/42 - 2
16-2120560-C-T c.1820C>T p.A607V Missense 17/42 - 2
16-2120562-AGC-GAG c.1822_1824delinsGAG p.S608E Missense 17/42 - 1
16-2120563-GCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGC-G c.1827_1839+46del - SpliceDonorDeletion 17/42 17/41 1
16-2120571-C-G c.1831C>G p.R611G Missense 17/42 - 1
16-2120571-C-T c.1831C>T p.R611W Missense 17/42 - 18
16-2120572-G-A c.1832G>A p.R611Q Missense 17/42 - 28
16-2120572-G-C c.1832G>C p.R611P Missense 17/42 - 1
16-2120785-C-T c.1839+206C>T - IntronicSNV - 17/41 1
16-2121512-C-A c.1841C>A p.A614D Missense 18/42 - 4
16-2121515-T-C c.1844T>C p.F615S Missense 18/42 - 3
16-2121527-TGCTGCTGCGGGCCGACTCACTGCACCGCCTGGGCCTGCCCAACAA-T c.1858_1902del p.L620_K634del InFrameDeletion 18/42 - 1
16-2121532-C-T c.1861C>T p.L621= Synonymous 18/42 - 1
16-2121535-C-T c.1864C>T p.R622W Missense 18/42 - 7
16-2121536-G-A c.1865G>A p.R622Q Missense 18/42 - 4
16-2121536-G-C c.1865G>C p.R622P Missense 18/42 - 1
16-2121538-G-T c.1867G>T p.A623S Missense 18/42 - 2
16-2121545-C-CA c.1875dup p.L626Tfs*31 Frameshift 18/42 - 1
16-2121553-C-G c.1882C>G p.R628G Missense 18/42 - 1
16-2121554-G-A c.1883G>A p.R628H Missense 18/42 - 1
16-2121556-CT-GC c.1885_1886delinsGC p.L629A Missense 18/42 - 1
16-2121563-T-C c.1892T>C p.L631P Missense 18/42 - 2
16-2121576-T-A c.1905T>A p.D635E Missense 18/42 - 1
16-2121576-T-G c.1905T>G p.D635E Missense 18/42 - 1
16-2121577-GGAGTC-G c.1908_1912del p.V637Afs*18 Frameshift 18/42 - 1
16-2121582-C-A c.1911C>A p.V637= Synonymous 18/42 - 1
16-2121582-C-G c.1911C>G p.V637= Synonymous 18/42 - 1
16-2121582-C-T c.1911C>T p.V637= Synonymous 18/42 - 1
16-2121583-G-A c.1912G>A p.V638M Missense 18/42 - 2
16-2121586-C-T c.1915C>T p.R639W Missense 18/42 - 1
16-2121591-C-A c.1920C>A p.F640L Missense 18/42 - 1
16-2121593-G-T c.1922G>T p.S641I Missense 18/42 - 1
16-2121595-C-T c.1924C>T p.P642S Missense 18/42 - 2
16-2121602-G-A c.1931G>A p.C644Y Missense 18/42 - 1
16-2121602-G-T c.1931G>T p.C644F Missense 18/42 - 1
16-2121604-G-C c.1933G>C p.V645L Missense 18/42 - 1
16-2121610-G-A c.1939G>A p.D647N Missense 18/42 - 7
16-2121615-C-A c.1944C>A p.Y648* Nonsense 18/42 - 1
16-2121615-C-G c.1944C>G p.Y648* Nonsense 18/42 - 1
16-2121616-A-C c.1945A>C p.M649L Missense 18/42 - 3
16-2121616-A-G c.1945A>G p.M649V Missense 18/42 - 2
16-2121616-A-T c.1945A>T p.M649L Missense 18/42 - 4
16-2121617-T-C c.1946T>C p.M649T Missense 18/42 - 2
16-2121665-C-T c.1946+48C>T - IntronicSNV - 18/41 1
16-2121785-G-T c.1947G>T p.M649I Missense 19/42 - 1
16-2121786-G-T c.1948G>T p.E650* Nonsense 19/42 - 1
16-2121790-C-T c.1952C>T p.P651L Missense 19/42 - 1
16-2121794-G-GT c.1956_1957insT p.R653* Nonsense 19/42 - 1
16-2121790-CAG-C c.1959_1960del p.G654Lfs*2 Frameshift 19/42 - 1
16-2121804-G-T c.1966G>T p.E656* Nonsense 19/42 - 1
16-2121811-A-C c.1973A>C p.K658T Missense 19/42 - 1
16-2121814-C-CA c.1976_1977insA p.S660Qfs*43 Frameshift 19/42 - 1
16-2121814-C-T c.1976C>T p.T659I Missense 19/42 - 1
16-2121816-A-T c.1978A>T p.S660C Missense 19/42 - 1
16-2121819-G-A c.1981G>A p.G661S Missense 19/42 - 1
16-2121820-G-A c.1982G>A p.G661D Missense 19/42 - 1
16-2121823-C-T c.1985C>T p.P662L Missense 19/42 - 1
16-2121827-T-A c.1989T>A p.L663= Synonymous 19/42 - 1
16-2121828-T-G c.1990T>G p.S664A Missense 19/42 - 1
16-2121844-C-T c.2006C>T p.P669L Missense 19/42 - 1
16-2121846-C-T c.2008C>T p.P670S Missense 19/42 - 1
16-2121849-G-T c.2011G>T p.G671C Missense 19/42 - 1
16-2121861-G-A c.2023G>A p.A675T Missense 19/42 - 1
16-2121869-C-T c.2031C>T p.P677= Synonymous 19/42 - 1
16-2121870-G-A c.2032G>A p.A678T Missense 19/42 - 7
16-2121872-C-T c.2034C>T p.A678= Synonymous 19/42 - 1
16-2121877-G-A c.2039G>A p.R680Q Missense 19/42 - 3
16-2121882-G-C c.2044G>C p.G682R Missense 19/42 - 1
16-2121880-T-TG c.2046dup p.S683Vfs*20 Frameshift 19/42 - 1
16-2121888-G-A c.2050G>A p.V684M Missense 19/42 - 1
16-2121889-T-A c.2051T>A p.V684E Missense 19/42 - 2
16-2121897-T-G c.2059T>G p.S687A Missense 19/42 - 1
16-2121898-C-T c.2060C>T p.S687F Missense 19/42 - 1
16-2121897-TCCCTGCTCTTCCG-T c.2061_2073del p.L688Sfs*6 Frameshift 19/42 - 1
16-2121899-CCTGCTCTTCCGCGTCCTG-C c.2066_2083del p.L689_L694del InFrameDeletion 19/42 - 1
16-2121907-TC-T c.2071del p.R691Afs*7 Frameshift 19/42 - 1
16-2121910-G-A c.2072G>A p.R691H Missense 19/42 - 3
16-2121910-GC-AA c.2072_2073delinsAA p.R691Q Missense 19/42 - 1
16-2121921-C-T c.2083C>T p.Q695* Nonsense 19/42 - 1
16-2121924-T-C c.2086T>C p.C696R Missense 19/42 - 2
16-2121925-G-A c.2087G>A p.C696Y Missense 19/42 - 6
16-2121930-A-T c.2092A>T p.K698* Nonsense 19/42 - 4
16-2122241-G-A c.2098-1G>A - IntronicSNV - 19/41 1
16-2122242-G-C c.2098G>C p.E700Q Missense 20/42 - 1
16-2122242-G-T c.2098G>T p.E700* Nonsense 20/42 - 1
16-2122243-A-G c.2099A>G p.E700G Missense 20/42 - 1
16-2122247-T-A c.2103T>A p.S701= Synonymous 20/42 - 1
16-2122247-T-C c.2103T>C p.S701= Synonymous 20/42 - 1
16-2122247-T-G c.2103T>G p.S701= Synonymous 20/42 - 1
16-2122252-G-A c.2108G>A p.W703* Nonsense 20/42 - 1
16-2122253-G-A c.2109G>A p.W703* Nonsense 20/42 - 1
16-2122257-G-A c.2113G>A p.V705M Missense 20/42 - 1
16-2122258-T-A c.2114T>A p.V705E Missense 20/42 - 1
16-2122269-G-T c.2125G>T p.V709F Missense 20/42 - 1
16-2122282-T-C c.2138T>C p.L713P Missense 20/42 - 1
16-2122284-C-T c.2140C>T p.P714S Missense 20/42 - 2
16-2122285-C-G c.2141C>G p.P714R Missense 20/42 - 1
16-2122291-C-T c.2147C>T p.S716F Missense 20/42 - 1
16-2122292-C-T c.2148C>T p.S716= Synonymous 20/42 - 1
16-2122296-CGC-GAG c.2152_2154delinsGAG p.R718E Missense 20/42 - 1
16-2122296-C-T c.2152C>T p.R718C Missense 20/42 - 1
16-2122297-G-C c.2153G>C p.R718P Missense 20/42 - 1
16-2122299-T-C c.2155T>C p.Y719H Missense 20/42 - 2
16-2122300-A-T c.2156A>T p.Y719F Missense 20/42 - 2
16-2122311-A-G c.2167A>G p.I723V Missense 20/42 - 1
16-2122311-CAT-C c.2167_2168del p.I723Lfs*38 Frameshift 20/42 - 1
16-2122313-C-CT c.2172dup p.T725Yfs*37 Frameshift 20/42 - 1
16-2122318-CT-C c.2176del p.S726Pfs*45 Frameshift 20/42 - 1
16-2122320-T-A c.2176T>A p.S726T Missense 20/42 - 2
16-2122321-C-T c.2177C>T p.S726F Missense 20/42 - 1
16-2122326-T-G c.2182T>G p.C728G Missense 20/42 - 1
16-2122327-G-T c.2183G>T p.C728F Missense 20/42 - 1
16-2122329-AG-GC c.2185_2186delinsGC p.S729A Missense 20/42 - 1
16-2122338-C-T c.2194C>T p.Q732* Nonsense 20/42 - 2
16-2122341-C-G c.2197C>G p.L733V Missense 20/42 - 2
16-2122350-G-A c.2206G>A p.A736T Missense 20/42 - 1
16-2122354-T-C c.2210T>C p.L737P Missense 20/42 - 2
16-2122355-C-T c.2211C>T p.L737= Synonymous 20/42 - 1
16-2122359-T-G c.2215T>G p.S739A Missense 20/42 - 1
16-2122360-C-A c.2216C>A p.S739Y Missense 20/42 - 1
16-2122363-T-C c.2219T>C p.M740T Missense 20/42 - 1
16-2122359-TCCATGGTA-T c.2220+2_2220+9del - IntronicDeletion - 20/41 1
16-2122854-C-T c.2225C>T p.S742L Missense 21/42 - 1
16-2122856-G-A c.2227G>A p.G743S Missense 21/42 - 1
16-2122864-AGACACTGGAGCGGCT-A c.2235_2249del p.K745_L750delinsN MultiAAMissense 21/42 - 1
16-2122865-GACACTGGAGCGGCTC-G c.2236_2250del p.T746_L750del InFrameDeletion 21/42 - 1
16-2122868-CT-TC c.2239_2240delinsTC p.L747S Missense 21/42 - 1
16-2122874-C-T c.2245C>T p.R749W Missense 21/42 - 1
16-2122877-C-T c.2248C>T p.L750F Missense 21/42 - 1
16-2122878-TC-T c.2251del p.R751Efs*20 Frameshift 21/42 - 1
16-2122880-C-T c.2251C>T p.R751* Nonsense 21/42 - 20
16-2122886-G-A c.2257G>A p.A753T Missense 21/42 - 2
16-2122923-C-T c.2294C>T p.A765V Missense 21/42 - 1
16-2122922-GC-G c.2295del p.V766Wfs*5 Frameshift 21/42 - 1
16-2122930-TCCAGTGCTGACAGCATTAATCTCTTA-T c.2305_2330del p.V769* Frameshift 21/42 - 1
16-2122935-T-A c.2306T>A p.V769E Missense 21/42 - 2
16-2122935-TGCTGACA-T c.2309_2315del p.L770Hfs*2 Frameshift 21/42 - 1
16-2122943-G-A c.2314G>A p.A772T Missense 21/42 - 1
16-2122943-G-T c.2314G>T p.A772S Missense 21/42 - 1
16-2122948-A-C c.2319A>C p.L773F Missense 21/42 - 1
16-2122947-TA-T c.2320del p.I774Sfs*55 Frameshift 21/42 - 2
16-2122969-G-T c.2340G>T p.L780= Synonymous 21/42 - 1
16-2122977-C-G c.2348C>G p.T783S Missense 21/42 - 1
16-2122981-A-T c.2352A>T p.K784N Missense 21/42 - 1
16-2122982-C-T c.2353C>T p.Q785* Nonsense 21/42 - 1
16-2122985-G-C c.2355+1G>C - IntronicSNV - 21/41 1
16-2122985-G-T c.2355+1G>T - IntronicSNV - 21/41 1
16-2122982-CAGGT-C c.2355+2_2355+5del - SpliceDonorDeletion - 21/41 1
16-2122986-T-A c.2355+2T>A - IntronicSNV - 21/41 1
16-2122986-T-C c.2355+2T>C - IntronicSNV - 21/41 1
16-2124199-A-C c.2356-2A>C - IntronicSNV - 21/41 1
16-2124201-C-T c.2356C>T p.R786C Missense 22/42 - 1
16-2124201-GCGCGAGA-G c.2356_2362del p.R786Wfs*41 SpliceAcceptorDeletion 22/42 - 1
16-2124207-A-G c.2362A>G p.M788V Missense 22/42 - 1
16-2124210-G-A c.2365G>A p.V789I Missense 22/42 - 1
16-2124219-C-T c.2374C>T p.L792= Synonymous 22/42 - 1
16-2124220-T-G c.2375T>G p.L792R Missense 22/42 - 1
16-2124225-C-T c.2380C>T p.Q794* Nonsense 22/42 - 5
16-2124226-A-G c.2381A>G p.Q794R Missense 22/42 - 1
16-2124226-A-AG c.2384dup p.L796Pfs*22 Frameshift 22/42 - 1
16-2124231-C-T c.2386C>T p.L796F Missense 22/42 - 1
16-2124237-C-T c.2392C>T p.H798Y Missense 22/42 - 1
16-2124248-C-CA c.2404dup p.S802Kfs*16 Frameshift 22/42 - 1
16-2124252-C-T c.2407C>T p.Q803* Nonsense 22/42 - 1
16-2124261-G-A c.2416G>A p.V806M Missense 22/42 - 1
16-2124270-T-C c.2425T>C p.S809P Missense 22/42 - 1
16-2124290-G-T c.2445G>T p.M815I Missense 22/42 - 1
16-2124292-C-T c.2447C>T p.P816L Missense 22/42 - 1
16-2124292-C-CT c.2448dup p.D817* Nonsense 22/42 - 1
16-2124295-ACAT-A c.2459_2461del p.I820del InFrameDeletion 22/42 - 2
16-2124305-C-T c.2460C>T p.I820= Synonymous 22/42 - 1
16-2124306-A-T c.2461A>T p.K821* Nonsense 22/42 - 1
16-2124310-C-T c.2465C>T p.A822V Missense 22/42 - 1
16-2124313-T-C c.2468T>C p.L823P Missense 22/42 - 1
16-2124321-C-A c.2476C>A p.L826M Missense 22/42 - 4
16-2124322-T-C c.2477T>C p.L826P Missense 22/42 - 2
16-2124334-T-G c.2489T>G p.L830R Missense 22/42 - 1
16-2124337-C-T c.2492C>T p.T831M Missense 22/42 - 2
16-2124341-C-A c.2496C>A p.H832Q Missense 22/42 - 1
16-2124355-C-G c.2510C>G p.A837G Missense 22/42 - 1
16-2124370-C-A c.2525C>A p.P842Q Missense 22/42 - 1
16-2124370-C-T c.2525C>T p.P842L Missense 22/42 - 1
16-2124376-T-G c.2531T>G p.L844R Missense 22/42 - 1
16-2124382-TC-T c.2539del p.L847Cfs*47 Frameshift 22/42 - 1
16-2124384-C-A c.2539C>A p.L847M Missense 22/42 - 1
16-2124385-T-C c.2540T>C p.L847P Missense 22/42 - 1
16-2124385-T-G c.2540T>G p.L847R Missense 22/42 - 1
16-2124387-TC-GA c.2542_2543inv p.S848D Missense 22/42 - 1
16-2124390-A-G c.2545A>G p.T849A Missense 22/42 - 1
16-2124435-T-A c.2545+45T>A - IntronicSNV - 22/41 1
16-2124775-G-C c.2545+385G>C - IntronicSNV - 22/41 1
16-2124981-C-G c.2545+591C>G - IntronicSNV - 22/41 1
16-2125795-C-G c.2546-5C>G - IntronicSNV - 22/41 1
16-2125795-C-T c.2546-5C>T - IntronicSNV - 22/41 1
16-2125805-GC-G c.2553del p.R852Gfs*42 Frameshift 23/42 - 2
16-2125808-A-AG c.2556dup p.L853Afs*30 Frameshift 23/42 - 1
16-2125814-C-T c.2560C>T p.P854S Missense 23/42 - 1
16-2125815-C-T c.2561C>T p.P854L Missense 23/42 - 1
16-2125817-GCACCTC-G c.2563_2568del p.H855_L856del InFrameDeletion 23/42 - 1
16-2125820-CTCTACAGGAACT-C c.2568_2579del p.Y857_F860del InFrameDeletion 23/42 - 1
16-2125825-AC-A c.2571del p.Y857* Frameshift 23/42 - 1
16-2125834-T-C c.2580T>C p.F860= Synonymous 23/42 - 6
16-2125834-T-G c.2580T>G p.F860L Missense 23/42 - 4
16-2125845-A-G c.2591A>G p.Q864R Missense 23/42 - 2
16-2125856-TG-T c.2602del p.V868Cfs*26 Frameshift 23/42 - 1
16-2125858-G-A c.2604G>A p.V868= Synonymous 23/42 - 1
16-2125858-G-C c.2604G>C p.V868= Synonymous 23/42 - 1
16-2125858-G-T c.2604G>T p.V868= Synonymous 23/42 - 1
16-2125862-G-A c.2608G>A p.A870T Missense 23/42 - 2
16-2125875-C-T c.2621C>T p.P874L Missense 23/42 - 2
16-2125878-A-G c.2624A>G p.Y875C Missense 23/42 - 1
16-2125880-ACCAACCC-A c.2628_2634del p.N877Pfs*15 Frameshift 23/42 - 1
16-2125886-C-T c.2632C>T p.P878S Missense 23/42 - 1
16-2125894-G-C c.2639+1G>C - IntronicSNV - 23/41 1
16-2125937-C-G c.2639+44C>G - IntronicSNV - 23/41 1
16-2126069-GT-G c.2643del p.F881Lfs*13 Frameshift 24/42 - 1
16-2126076-C-T c.2647C>T p.Q883* Nonsense 24/42 - 2
16-2126077-A-G c.2648A>G p.Q883R Missense 24/42 - 1
16-2126081-C-A c.2652C>A p.Y884* Nonsense 24/42 - 1
16-2126081-C-T c.2652C>T p.Y884= Synonymous 24/42 - 1
16-2126085-G-C c.2656G>C p.V886L Missense 24/42 - 1
16-2126085-G-T c.2656G>T p.V886L Missense 24/42 - 2
16-2126094-G-C c.2665G>C p.A889P Missense 24/42 - 2
16-2126103-G-A c.2674G>A p.V892I Missense 24/42 - 1
16-2126107-T-C c.2678T>C p.I893T Missense 24/42 - 1
16-2126115-T-TA c.2686_2687insA p.W896* Nonsense 24/42 - 1
16-2126114-GTGGTTCATCAGGTGCCGCCTGCCCT-G c.2687_2711del p.W896Sfs*44 Frameshift 24/42 - 1
16-2126117-G-A c.2688G>A p.W896* Nonsense 24/42 - 1
16-2126117-GT-G c.2690del p.F897Sfs*51 Frameshift 24/42 - 1
16-2126119-T-C c.2690T>C p.F897S Missense 24/42 - 1
16-2126129-C-A c.2700C>A p.C900* Nonsense 24/42 - 1
16-2126130-C-T c.2701C>T p.R901C Missense 24/42 - 1
16-2126131-G-A c.2702G>A p.R901H Missense 24/42 - 2
16-2126137-C-T c.2708C>T p.P903L Missense 24/42 - 2
16-2126139-TT-GC c.2710_2711delinsGC p.F904A Missense 24/42 - 1
16-2126142-C-G c.2713C>G p.R905G Missense 24/42 - 3
16-2126142-C-T c.2713C>T p.R905W Missense 24/42 - 13
16-2126143-G-A c.2714G>A p.R905Q Missense 24/42 - 16
16-2126164-TCA-T c.2737_2738del p.T913* Frameshift 24/42 - 1
16-2126167-C-CT c.2739dup p.K914* Nonsense 24/42 - 1
16-2126172-G-A c.2742+1G>A - IntronicSNV - 24/41 1
16-2126490-A-C c.2743-2A>C - IntronicSNV - 24/41 1
16-2126490-A-G c.2743-2A>G - IntronicSNV - 24/41 1
16-2126496-T-C c.2747T>C p.L916P Missense 25/42 - 2
16-2126496-T-G c.2747T>G p.L916R Missense 25/42 - 2
16-2126517-CTT-C c.2771_2772del p.F924* Frameshift 25/42 - 1
16-2126522-G-C c.2773G>C p.D925H Missense 25/42 - 1
16-2126528-A-AC c.2784dup p.E929Rfs*11 Frameshift 25/42 - 1
16-2126533-CG-TT c.2784_2785delinsTT p.E929* Missense 25/42 - 1
16-2126534-G-A c.2785G>A p.E929K Missense 25/42 - 1
16-2126534-G-T c.2785G>T p.E929* Nonsense 25/42 - 1
16-2126540-G-T c.2791G>T p.D931Y Missense 25/42 - 1
16-2126541-A-C c.2792A>C p.D931A Missense 25/42 - 1
16-2126556-G-T c.2807G>T p.R936L Missense 25/42 - 1
16-2126564-AG-GC c.2815_2816delinsGC p.S939A Missense 25/42 - 12
16-2126564-AGT-GAG c.2815_2817delinsGAG p.S939E Missense 25/42 - 1
16-2126564-A-T c.2815A>T p.S939C Missense 25/42 - 1
16-2126573-G-T c.2824G>T p.E942* Nonsense 25/42 - 1
16-2126580-C-CT c.2831_2832insT p.K945Qfs*15 Frameshift 25/42 - 1
16-2126582-AAG-GAC c.2833_2835delinsGAC p.K945D Missense 25/42 - 1
16-2126583-A-G c.2834A>G p.K945R Missense 25/42 - 1
16-2126588-GTACGGC-G c.2837+2_2837+7del - IntronicDeletion - 25/41 1
16-2126588-T-C c.2837+2T>C - IntronicSNV - 25/41 1
16-2127595-A-C c.2838-4A>C - IntronicSNV - 25/41 1
16-2127595-A-G c.2838-4A>G - IntronicSNV - 25/41 1
16-2127609-G-A c.2848G>A p.A950T Missense 26/42 - 1
16-2127610-C-T c.2849C>T p.A950V Missense 26/42 - 1
16-2127614-A-C c.2853A>C p.R951S Missense 26/42 - 1
16-2127614-A-T c.2853A>T p.R951S Missense 26/42 - 1
16-2127616-C-T c.2855C>T p.P952L Missense 26/42 - 1
16-2127617-C-A c.2856C>A p.P952= Synonymous 26/42 - 1
16-2127617-C-G c.2856C>G p.P952= Synonymous 26/42 - 1
16-2127617-C-T c.2856C>T p.P952= Synonymous 26/42 - 1
16-2127619-C-A c.2858C>A p.P953H Missense 26/42 - 1
16-2127614-A-AC c.2859dup p.K954Qfs*6 Frameshift 26/42 - 1
16-2127622-A-G c.2861A>G p.K954R Missense 26/42 - 3
16-2127626-A-T c.2865A>T p.Q955H Missense 26/42 - 1
16-2127634-A-G c.2873A>G p.N958S Missense 26/42 - 2
16-2127640-C-T c.2879C>T p.S960F Missense 26/42 - 2
16-2127642-C-A c.2881C>A p.P961T Missense 26/42 - 1
16-2127648-G-A c.2887G>A p.V963M Missense 26/42 - 1
16-2127652-AAG-A c.2893_2894del p.E965Ifs*19 Frameshift 26/42 - 1
16-2127676-C-T c.2915C>T p.A972V Missense 26/42 - 1
16-2127681-G-A c.2920G>A p.A974T Missense 26/42 - 1
16-2127682-C-A c.2921C>A p.A974D Missense 26/42 - 1
16-2127688-GG-AT c.2927_2928delinsAT p.R976H Missense 26/42 - 1
16-2127694-G-A c.2933G>A p.R978H Missense 26/42 - 2
16-2127702-AG-CC c.2941_2942delinsCC p.S981P Missense 26/42 - 1
16-2127702-AG-GC c.2941_2942delinsGC p.S981A Missense 26/42 - 2
16-2127708-T-C c.2947T>C p.S983P Missense 26/42 - 1
16-2127711-G-C c.2950G>C p.E984Q Missense 26/42 - 3
16-2127723-C-T c.2962C>T p.R988C Missense 26/42 - 6
16-2127724-G-A c.2963G>A p.R988H Missense 26/42 - 1
16-2127724-G-C c.2963G>C p.R988P Missense 26/42 - 2
16-2127726-A-G c.2965A>G p.S989G Missense 26/42 - 1
16-2127728-G-A c.2966+1G>A - IntronicSNV - 26/41 2
16-2129040-C-T c.2974C>T p.Q992* Nonsense 27/42 - 2
16-2129044-C-A c.2978C>A p.T993K Missense 27/42 - 1
16-2129044-C-T c.2978C>T p.T993M Missense 27/42 - 4
16-2129052-A-C c.2986A>C p.T996P Missense 27/42 - 1
16-2129053-C-T c.2987C>T p.T996I Missense 27/42 - 1
16-2129052-AC-A c.2988del p.S997Vfs*19 Frameshift 27/42 - 1
16-2129068-G-A c.3002G>A p.G1001E Missense 27/42 - 1
16-2129065-TG-T c.3003del p.S1002Lfs*14 Frameshift 27/42 - 1
16-2129071-C-T c.3005C>T p.S1002F Missense 27/42 - 1
16-2129094-C-T c.3028C>T p.Q1010* Nonsense 27/42 - 5
16-2129104-GA-G c.3038del p.D1013Vfs*3 Frameshift 27/42 - 1
16-2129111-GA-G c.3050del p.N1017Tfs*13 Frameshift 27/42 - 1
16-2129118-CT-GC c.3052_3053delinsGC p.L1018A Missense 27/42 - 1
16-2129139-A-G c.3073A>G p.T1025A Missense 27/42 - 1
16-2129141-C-CT c.3076dup p.C1026Lfs*142 Frameshift 27/42 - 1
16-2129145-C-A c.3079C>A p.L1027M Missense 27/42 - 1
16-2129146-T-C c.3080T>C p.L1027P Missense 27/42 - 1
16-2129146-TG-T c.3082del p.D1028Tfs*2 Frameshift 27/42 - 2
16-2129158-C-G c.3092C>G p.A1031G Missense 27/42 - 1
16-2129160-C-T c.3094C>T p.R1032* Nonsense 27/42 - 9
16-2129161-G-C c.3095G>C p.R1032P Missense 27/42 - 2
16-2129163-T-TA c.3098dup p.Y1033* Nonsense 27/42 - 1
16-2129165-C-G c.3099C>G p.Y1033* Nonsense 27/42 - 3
16-2129166-G-A c.3100G>A p.V1034I Missense 27/42 - 2
16-2129172-T-C c.3106T>C p.S1036P Missense 27/42 - 1
16-2129173-C-T c.3107C>T p.S1036F Missense 27/42 - 1
16-2129188-TC-T c.3125del p.P1042Rfs*11 Frameshift 27/42 - 1
16-2129192-G-T c.3126G>T p.P1042= Synonymous 27/42 - 1
16-2129197-G-A c.3131G>A p.R1044K Missense 27/42 - 1
16-2129197-G-C c.3131G>C p.R1044T Missense 27/42 - 1
16-2129197-G-T c.3131G>T p.R1044M Missense 27/42 - 1
16-2129205-C-T c.3131+8C>T - IntronicSNV - 27/41 1
16-2129279-C-T c.3134C>T p.S1045F Missense 28/42 - 2
16-2129285-T-C c.3140T>C p.V1047A Missense 28/42 - 2
16-2129287-G-T c.3142G>T p.G1048C Missense 28/42 - 1
16-2129301-A-G c.3156A>G p.L1052= Synonymous 28/42 - 1
16-2129312-G-C c.3167G>C p.R1056T Missense 28/42 - 1
16-2129311-AG-A c.3168del p.T1057Pfs*13 Frameshift 28/42 - 1
16-2129316-C-CA c.3175dup p.T1059Nfs*109 Frameshift 28/42 - 1
16-2129324-G-C c.3179G>C p.W1060S Missense 28/42 - 1
16-2129325-G-A c.3180G>A p.W1060* Nonsense 28/42 - 1
16-2129325-G-T c.3180G>T p.W1060C Missense 28/42 - 1
16-2129326-CTGGT-C c.3185_3188del p.V1062Gfs*7 Frameshift 28/42 - 1
16-2129334-G-GA c.3191dup p.N1064Kfs*104 Frameshift 28/42 - 1
16-2129340-G-T c.3195G>T p.K1065N Missense 28/42 - 1
16-2129348-C-T c.3203C>T p.T1068I Missense 28/42 - 1
16-2129351-T-A c.3206T>A p.V1069E Missense 28/42 - 1
16-2129351-T-C c.3206T>C p.V1069A Missense 28/42 - 1
16-2129353-ACG-TGT c.3208_3210delinsTGT p.T1070C Missense 28/42 - 1
16-2129357-C-G c.3212C>G p.T1071R Missense 28/42 - 1
16-2129368-A-T c.3223A>T p.T1075S Missense 28/42 - 1
16-2129369-C-G c.3224C>G p.T1075S Missense 28/42 - 1
16-2129369-C-T c.3224C>T p.T1075I Missense 28/42 - 1
16-2129370-C-A c.3225C>A p.T1075= Synonymous 28/42 - 1
16-2129370-C-G c.3225C>G p.T1075= Synonymous 28/42 - 1
16-2129370-C-T c.3225C>T p.T1075= Synonymous 28/42 - 1
16-2129374-AC-A c.3232del p.R1078Gfs*4 Frameshift 28/42 - 1
16-2129386-C-T c.3241C>T p.L1081= Synonymous 28/42 - 1
16-2129388-A-C c.3243A>C p.L1081= Synonymous 28/42 - 1
16-2129388-A-G c.3243A>G p.L1081= Synonymous 28/42 - 1
16-2129388-A-T c.3243A>T p.L1081= Synonymous 28/42 - 1
16-2129396-A-G c.3251A>G p.D1084G Missense 28/42 - 1
16-2129396-A-T c.3251A>T p.D1084V Missense 28/42 - 1
16-2129397-C-G c.3252C>G p.D1084E Missense 28/42 - 2
16-2129399-C-A c.3254C>A p.S1085* Nonsense 28/42 - 1
16-2129399-C-T c.3254C>T p.S1085L Missense 28/42 - 1
16-2129404-G-T c.3259G>T p.E1087* Nonsense 28/42 - 1
16-2129416-G-A c.3271G>A p.G1091S Missense 28/42 - 1
16-2129420-C-T c.3275C>T p.P1092L Missense 28/42 - 2
16-2129421-G-A c.3276G>A p.P1092= Synonymous 28/42 - 1
16-2129420-C-CG c.3277dup p.E1093Gfs*75 Frameshift 28/42 - 1
16-2129422-G-T c.3277G>T p.E1093* Nonsense 28/42 - 1
16-2129426-C-A c.3281C>A p.S1094* Nonsense 28/42 - 1
16-2129430-G-A c.3284+1G>A - IntronicSNV - 28/41 1
16-2129471-A-T c.3284+42A>T - IntronicSNV - 28/41 1
16-2129560-C-G c.3287C>G p.S1096C Missense 29/42 - 1
16-2129563-AG-A c.3290del p.S1097Tfs*6 Frameshift 29/42 - 1
16-2129566-C-T c.3293C>T p.P1098L Missense 29/42 - 2
16-2129571-G-A c.3298G>A p.V1100M Missense 29/42 - 1
16-2129583-C-T c.3310C>T p.Q1104* Nonsense 29/42 - 1
16-2129593-AGGCGCCGGCCAAGCTGGAGTCCCAGGCT-A c.3323_3350del p.A1108Gfs*74 Frameshift 29/42 - 1
16-2129596-C-T c.3323C>T p.A1108V Missense 29/42 - 1
16-2129601-G-A c.3328G>A p.A1110T Missense 29/42 - 1
16-2129610-G-T c.3337G>T p.E1113* Nonsense 29/42 - 1
16-2129621-TG-T c.3351del p.Q1118Sfs*73 Frameshift 29/42 - 1
16-2129625-CA-TC c.3352_3353delinsTC p.Q1118S Missense 29/42 - 1
16-2129629-CA-C c.3356del p.Q1119Rfs*72 Frameshift 29/42 - 1
16-2129631-G-C c.3358G>C p.V1120L Missense 29/42 - 1
16-2129631-G-T c.3358G>T p.V1120L Missense 29/42 - 1
16-2129634-TC-T c.3364del p.R1122Vfs*69 Frameshift 29/42 - 1
16-2129637-C-T c.3364C>T p.R1122C Missense 29/42 - 1
16-2129638-G-A c.3365G>A p.R1122H Missense 29/42 - 1
16-2129639-TGGGGCCCGGGATC-T c.3370_3382del p.A1124Sfs*63 Frameshift 29/42 - 1
16-2129643-G-A c.3370G>A p.A1124T Missense 29/42 - 2
16-2129641-GGGCCCGGGATC-G c.3371_3381del p.A1124Gfs*40 Frameshift 29/42 - 1
16-2129652-C-T c.3379C>T p.R1127W Missense 29/42 - 1
16-2129653-G-A c.3380G>A p.R1127Q Missense 29/42 - 1
16-2129659-G-A c.3386G>A p.R1129H Missense 29/42 - 1
16-2129661-T-G c.3388T>G p.S1130A Missense 29/42 - 2
16-2129662-C-G c.3389C>G p.S1130C Missense 29/42 - 1
16-2129661-TC-T c.3390del p.M1131Cfs*60 Frameshift 29/42 - 1
16-2129667-T-G c.3394T>G p.S1132A Missense 29/42 - 1
16-2130180-C-T c.3412C>T p.R1138* Nonsense 30/42 - 16
16-2130183-AG-A c.3415del p.V1139Lfs*52 Frameshift 30/42 - 1
16-2130189-G-A c.3421G>A p.A1141T Missense 30/42 - 5
16-2130190-C-T c.3422C>T p.A1141V Missense 30/42 - 4
16-2130196-A-G c.3428A>G p.D1143G Missense 30/42 - 1
16-2130198-G-A c.3430G>A p.V1144M Missense 30/42 - 2
16-2130210-C-T c.3442C>T p.Q1148* Nonsense 30/42 - 2
16-2130219-G-A c.3451G>A p.G1151S Missense 30/42 - 1
16-2130220-G-T c.3452G>T p.G1151V Missense 30/42 - 1
16-2130240-C-T c.3472C>T p.P1158S Missense 30/42 - 1
16-2130243-C-A c.3475C>A p.R1159= Synonymous 30/42 - 1
16-2130243-C-G c.3475C>G p.R1159G Missense 30/42 - 1
16-2130243-C-T c.3475C>T p.R1159W Missense 30/42 - 5
16-2130245-G-A c.3477G>A p.R1159= Synonymous 30/42 - 1
16-2130245-G-C c.3477G>C p.R1159= Synonymous 30/42 - 1
16-2130245-G-T c.3477G>T p.R1159= Synonymous 30/42 - 1
16-2130253-C-T c.3485C>T p.P1162L Missense 30/42 - 1
16-2130259-C-T c.3491C>T p.A1164V Missense 30/42 - 3
16-2130265-C-CT c.3498dup p.E1167* Nonsense 30/42 - 2
16-2130267-G-C c.3499G>C p.E1167Q Missense 30/42 - 1
16-2130294-C-CT c.3526_3527insT p.P1176Lfs*58 Frameshift 30/42 - 1
16-2130300-C-T c.3532C>T p.Q1178* Nonsense 30/42 - 6
16-2130303-G-T c.3535G>T p.E1179* Nonsense 30/42 - 1
16-2130306-A-T c.3538A>T p.K1180* Nonsense 30/42 - 1
16-2130310-C-T c.3542C>T p.T1181M Missense 30/42 - 1
16-2130319-C-T c.3551C>T p.A1184V Missense 30/42 - 2
16-2130325-A-G c.3557A>G p.Y1186C Missense 30/42 - 2
16-2130330-C-T c.3562C>T p.P1188S Missense 30/42 - 1
16-2130342-C-T c.3574C>T p.Q1192* Nonsense 30/42 - 1
16-2130346-G-A c.3578G>A p.G1193D Missense 30/42 - 1
16-2130349-G-A c.3581G>A p.W1194* Nonsense 30/42 - 1
16-2130350-G-A c.3582G>A p.W1194* Nonsense 30/42 - 1
16-2130351-G-C c.3583G>C p.A1195P Missense 30/42 - 1
16-2130352-C-T c.3584C>T p.A1195V Missense 30/42 - 1
16-2130357-A-T c.3589A>T p.I1197F Missense 30/42 - 1
16-2130364-T-G c.3596T>G p.V1199G Missense 30/42 - 1
16-2130366-C-T c.3598C>T p.R1200W Missense 30/42 - 6
16-2130367-G-A c.3599G>A p.R1200Q Missense 30/42 - 1
16-2130367-G-C c.3599G>C p.R1200P Missense 30/42 - 6
16-2130373-C-A c.3605C>A p.P1202H Missense 30/42 - 1
16-2130375-A-C c.3607A>C p.T1203P Missense 30/42 - 1
16-2130375-A-G c.3607A>G p.T1203A Missense 30/42 - 1
16-2130376-C-A c.3608C>A p.T1203K Missense 30/42 - 2
16-2130376-C-G c.3608C>G p.T1203R Missense 30/42 - 1
16-2130378-G-A c.3610G>A p.G1204R Missense 30/42 - 2
16-2130378-G-C c.3610G>C p.G1204R Missense 30/42 - 1
16-2130379-G-A c.3610+1G>A - IntronicSNV - 30/41 3
16-2130379-G-T c.3610+1G>T - IntronicSNV - 30/41 1
16-2130697-G-A c.3610+319G>A - IntronicSNV - 30/41 1
16-2131596-G-A c.3611G>A p.G1204E Missense 31/42 - 2
16-2131596-G-T c.3611G>T p.G1204V Missense 31/42 - 1
16-2131609-G-A c.3624G>A p.W1208* Nonsense 31/42 - 2
16-2131615-G-A c.3630G>A p.M1210I Missense 31/42 - 1
16-2131629-C-T c.3644C>T p.P1215L Missense 31/42 - 1
16-2131631-C-A c.3646C>A p.L1216I Missense 31/42 - 1
16-2131654-CAACA-C c.3671_3674del p.N1224Tfs*100 Frameshift 31/42 - 1
16-2131653-TCAA-T c.3674_3676del p.N1225del InFrameDeletion 31/42 - 1
16-2131661-A-G c.3676A>G p.M1226V Missense 31/42 - 1
16-2131663-G-GC c.3682dup p.L1228Pfs*6 Frameshift 31/42 - 1
16-2131670-C-T c.3685C>T p.Q1229* Nonsense 31/42 - 3
16-2131673-G-A c.3688G>A p.E1230K Missense 31/42 - 1
16-2131675-G-T c.3690G>T p.E1230D Missense 31/42 - 1
16-2131676-GCTGTCTAACGCCCTCAT-G c.3691_3707del p.L1231Gfs*3 Frameshift 31/42 - 2
16-2131675-GCTGT-G c.3693_3696del p.S1232Tfs*92 Frameshift 31/42 - 2
16-2131680-C-CT c.3696dup p.N1233* Nonsense 31/42 - 1
16-2131685-G-A c.3700G>A p.A1234T Missense 31/42 - 1
16-2131692-T-C c.3707T>C p.M1236T Missense 31/42 - 1
16-2131695-C-T c.3710C>T p.A1237V Missense 31/42 - 4
16-2131695-CGGCT-C c.3712_3715del p.A1238Sfs*86 Frameshift 31/42 - 1
16-2131697-G-A c.3712G>A p.A1238T Missense 31/42 - 1
16-2131700-G-A c.3715G>A p.E1239K Missense 31/42 - 1
16-2131700-G-C c.3715G>C p.E1239Q Missense 31/42 - 1
16-2131708-C-CA c.3725dup p.E1243Gfs*79 Frameshift 31/42 - 1
16-2131718-C-T c.3733C>T p.R1245W Missense 31/42 - 1
16-2131721-G-A c.3736G>A p.D1246N Missense 31/42 - 3
16-2131721-G-C c.3736G>C p.D1246H Missense 31/42 - 1
16-2131729-C-A c.3744C>A p.A1248= Synonymous 31/42 - 1
16-2131734-A-G c.3749A>G p.Y1250C Missense 31/42 - 1
16-2131735-C-G c.3750C>G p.Y1250* Nonsense 31/42 - 2
16-2131736-A-T c.3751A>T p.K1251* Nonsense 31/42 - 1
16-2131737-A-G c.3752A>G p.K1251R Missense 31/42 - 1
16-2131740-C-T c.3755C>T p.S1252L Missense 31/42 - 1
16-2131744-TGTCGGTGCCGGCAG-T c.3759_3772del p.S1254Qfs*63 Frameshift 31/42 - 1
16-2131745-T-G c.3760T>G p.S1254A Missense 31/42 - 1
16-2131746-C-A c.3761C>A p.S1254* Nonsense 31/42 - 1
16-2131746-C-T c.3761C>T p.S1254L Missense 31/42 - 1
16-2131753-GGCAGCCA-G c.3772_3778del p.A1258Rfs*65 Frameshift 31/42 - 1
16-2131757-GC-CG c.3772_3773delinsCG p.A1258R Missense 31/42 - 1
16-2131760-A-G c.3775A>G p.S1259G Missense 31/42 - 1
16-2131764-C-T c.3779C>T p.T1260M Missense 31/42 - 1
16-2131766-G-A c.3781G>A p.A1261T Missense 31/42 - 2
16-2131772-C-T c.3787C>T p.P1263S Missense 31/42 - 1
16-2131787-C-G c.3802C>G p.R1268G Missense 31/42 - 1
16-2131787-C-T c.3802C>T p.R1268C Missense 31/42 - 3
16-2131788-G-A c.3803G>A p.R1268H Missense 31/42 - 1
16-2131800-G-C c.3814+1G>C - IntronicSNV - 31/41 1
16-2131816-G-GC c.3814+19dup - IntronicInsertion - 31/41 1
16-2132416-G-A c.3815-21G>A - IntronicSNV - 31/41 1
16-2132416-G-T c.3815-21G>T - IntronicSNV - 31/41 1
16-2132437-T-C c.3815T>C p.V1272A Missense 32/42 - 2
16-2132437-T-G c.3815T>G p.V1272G Missense 32/42 - 1
16-2132440-CCT-C c.3821_3822del p.S1274Ffs*47 Frameshift 32/42 - 1
16-2132449-C-T c.3827C>T p.S1276F Missense 32/42 - 4
16-2132459-C-G c.3837C>G p.Y1279* Nonsense 32/42 - 1
16-2132460-C-T c.3838C>T p.Q1280* Nonsense 32/42 - 1
16-2132464-CCAG-C c.3844_3846del p.S1282del InFrameDeletion 32/42 - 1
16-2132466-A-G c.3844A>G p.S1282G Missense 32/42 - 1
16-2132466-AGCTGCCAAG-A c.3846_3854del p.S1282_G1285delinsR MultiAAMissense 32/42 - 1
16-2132468-CTGCCAAGGA-G c.3846_3855delinsG p.S1282_G1285delinsR MultiAAMissense 32/42 - 1
16-2132470-GCCAAGGA-G c.3850_3856del p.Q1284Sfs*39 Frameshift 32/42 - 2
16-2132493-G-A c.3871G>A p.V1291I Missense 32/42 - 1
16-2132497-C-T c.3875C>T p.S1292F Missense 32/42 - 1
16-2132500-G-A c.3878G>A p.W1293* Nonsense 32/42 - 1
16-2132501-G-A c.3879G>A p.W1293* Nonsense 32/42 - 1
16-2132511-G-A c.3883+6G>A - IntronicSNV - 32/41 1
16-2132731-G-A c.3883+226G>A - IntronicSNV - 32/41 1
16-2133699-C-T c.3887C>T p.S1296F Missense 33/42 - 1
16-2133701-G-A c.3889G>A p.A1297T Missense 33/42 - 3
16-2133725-C-T c.3913C>T p.P1305S Missense 33/42 - 1
16-2133726-C-T c.3914C>T p.P1305L Missense 33/42 - 4
16-2133755-C-G c.3943C>G p.P1315A Missense 33/42 - 1
16-2133755-C-T c.3943C>T p.P1315S Missense 33/42 - 1
16-2133758-GGG-TGT c.3946_3948delinsTGT p.G1316C Missense 33/42 - 2
16-2133759-G-C c.3947G>C p.G1316A Missense 33/42 - 1
16-2133759-GGTTGGAGGAC-G c.3952_3961del p.E1318Rfs*4 Frameshift 33/42 - 1
16-2133765-A-G c.3953A>G p.E1318G Missense 33/42 - 1
16-2133780-C-T c.3968C>T p.A1323V Missense 33/42 - 3
16-2133786-G-A c.3974G>A p.G1325D Missense 33/42 - 2
16-2133786-G-T c.3974G>T p.G1325V Missense 33/42 - 1
16-2133798-G-A c.3986G>A p.R1329H Missense 33/42 - 4
16-2133801-C-T c.3989C>T p.T1330M Missense 33/42 - 1
16-2133810-A-G c.3998A>G p.Y1333C Missense 33/42 - 1
16-2133811-C-A c.3999C>A p.Y1333* Nonsense 33/42 - 1
16-2133813-G-GGCA c.4001_4002insGCA p.S1334delinsRH MultiAAMissense 33/42 - 1
16-2133901-C-T c.4005+84C>T - IntronicSNV - 33/41 4
16-2134230-C-G c.4007C>G p.S1336W Missense 34/42 - 1
16-2134230-C-T c.4007C>T p.S1336L Missense 34/42 - 2
16-2134235-T-G c.4012T>G p.S1338A Missense 34/42 - 1
16-2134236-C-G c.4013C>G p.S1338* Nonsense 34/42 - 1
16-2134236-TCA-T c.4013_4014del p.S1338Cfs*75 Frameshift 34/42 - 1
16-2134256-GAA-G c.4033_4034del p.K1345Vfs*68 Frameshift 34/42 - 1
16-2134260-C-T c.4037C>T p.S1346L Missense 34/42 - 1
16-2134263-TC-T c.4042del p.H1348Tfs*35 Frameshift 34/42 - 1
16-2134268-G-A c.4045G>A p.A1349T Missense 34/42 - 2
16-2134266-ACG-A c.4046_4047del p.A1349Gfs*64 Frameshift 34/42 - 1
16-2134269-C-T c.4046C>T p.A1349V Missense 34/42 - 2
16-2134270-G-A c.4047G>A p.A1349= Synonymous 34/42 - 1
16-2134274-G-A c.4051G>A p.E1351K Missense 34/42 - 2
16-2134274-G-C c.4051G>C p.E1351Q Missense 34/42 - 1
16-2134274-G-T c.4051G>T p.E1351* Nonsense 34/42 - 2
16-2134289-G-A c.4066G>A p.G1356S Missense 34/42 - 1
16-2134290-G-T c.4067G>T p.G1356V Missense 34/42 - 1
16-2134293-T-A c.4070T>A p.I1357N Missense 34/42 - 3
16-2134303-G-C c.4080G>C p.E1360D Missense 34/42 - 1
16-2134303-G-T c.4080G>T p.E1360D Missense 34/42 - 1
16-2134304-C-T c.4081C>T p.R1361* Nonsense 34/42 - 2
16-2134303-GCGAGT-G c.4083_4087del p.V1362Lfs*50 Frameshift 34/42 - 1
16-2134313-TCC-GAG c.4090_4092delinsGAG p.S1364E Missense 34/42 - 2
16-2134313-T-G c.4090T>G p.S1364A Missense 34/42 - 2
16-2134316-TC-GA c.4093_4094inv p.S1365E Missense 34/42 - 4
16-2134316-T-G c.4093T>G p.S1365A Missense 34/42 - 4
16-2134317-C-T c.4094C>T p.S1365L Missense 34/42 - 5
16-2134320-A-C c.4097A>C p.E1366A Missense 34/42 - 1
16-2134322-G-A c.4099G>A p.G1367S Missense 34/42 - 1
16-2134326-G-A c.4103G>A p.G1368D Missense 34/42 - 1
16-2134328-C-A c.4105C>A p.R1369= Synonymous 34/42 - 1
16-2134328-C-T c.4105C>T p.R1369W Missense 34/42 - 3
16-2134329-G-A c.4106G>A p.R1369Q Missense 34/42 - 1
16-2134338-TG-T c.4117del p.D1373Tfs*10 Frameshift 34/42 - 2
16-2134340-GA-AC c.4117_4118delinsAC p.D1373T Missense 34/42 - 1
16-2134352-C-T c.4129C>T p.Q1377* Nonsense 34/42 - 2
16-2134359-C-T c.4136C>T p.S1379L Missense 34/42 - 1
16-2134361-C-A c.4138C>A p.Q1380K Missense 34/42 - 1
16-2134363-G-GC c.4144dup p.L1382Pfs*32 Frameshift 34/42 - 1
16-2134368-T-TC c.4145_4146insC p.S1383Efs*31 Frameshift 34/42 - 1
16-2134380-G-A c.4157G>A p.S1386N Missense 34/42 - 1
16-2134382-T-G c.4159T>G p.S1387A Missense 34/42 - 1
16-2134391-G-A c.4168G>A p.E1390K Missense 34/42 - 1
16-2134397-C-T c.4174C>T p.Q1392* Nonsense 34/42 - 2
16-2134397-CAG-C c.4176_4177del p.Q1392Hfs*21 Frameshift 34/42 - 1
16-2134400-ACT-A c.4180_4181del p.L1394Afs*19 Frameshift 34/42 - 2
16-2134406-C-T c.4183C>T p.Q1395* Nonsense 34/42 - 1
16-2134409-G-A c.4186G>A p.D1396N Missense 34/42 - 1
16-2134418-G-A c.4195G>A p.G1399R Missense 34/42 - 1
16-2134418-G-C c.4195G>C p.G1399R Missense 34/42 - 1
16-2134418-G-T c.4195G>T p.G1399W Missense 34/42 - 1
16-2134426-TG-T c.4207del p.D1403Tfs*8 Frameshift 34/42 - 2
16-2134430-GA-AC c.4207_4208delinsAC p.D1403T Missense 34/42 - 1
16-2134430-G-C c.4207G>C p.D1403H Missense 34/42 - 1
16-2134442-G-A c.4219G>A p.V1407M Missense 34/42 - 1
16-2134448-C-A c.4225C>A p.R1409= Synonymous 34/42 - 1
16-2134448-C-G c.4225C>G p.R1409G Missense 34/42 - 1
16-2134450-G-A c.4227G>A p.R1409= Synonymous 34/42 - 1
16-2134450-G-C c.4227G>C p.R1409= Synonymous 34/42 - 1
16-2134450-G-T c.4227G>T p.R1409= Synonymous 34/42 - 1
16-2134449-G-A c.4226G>A p.R1409Q Missense 34/42 - 1
16-2134458-CCT-C c.4235_4236del p.P1412Rfs*3 Frameshift 34/42 - 1
16-2134475-T-G c.4252T>G p.S1418A Missense 34/42 - 1
16-2134478-C-T c.4255C>T p.Q1419* Nonsense 34/42 - 1
16-2134477-ACAGT-A c.4258_4261del p.S1420Gfs*55 Frameshift 34/42 - 1
16-2134490-C-T c.4267C>T p.L1423= Synonymous 34/42 - 1
16-2134492-G-A c.4269G>A p.L1423= Synonymous 34/42 - 1
16-2134492-G-C c.4269G>C p.L1423= Synonymous 34/42 - 2
16-2134492-G-T c.4269G>T p.L1423= Synonymous 34/42 - 1
16-2134496-G-A c.4273G>A p.G1425R Missense 34/42 - 3
16-2134496-G-C c.4273G>C p.G1425R Missense 34/42 - 1
16-2134501-A-C c.4278A>C p.E1426D Missense 34/42 - 1
16-2134499-GA-G c.4279del p.S1427Vfs*49 Frameshift 34/42 - 1
16-2134508-G-T c.4285G>T p.A1429S Missense 34/42 - 6
16-2134509-C-T c.4286C>T p.A1429V Missense 34/42 - 2
16-2134515-C-T c.4292C>T p.S1431L Missense 34/42 - 2
16-2134521-C-T c.4298C>T p.S1433L Missense 34/42 - 5
16-2134536-G-A c.4313G>A p.R1438Q Missense 34/42 - 1
16-2134538-G-C c.4315G>C p.G1439R Missense 34/42 - 1
16-2134538-GGCCAGCCCGAG-CT c.4315_4326delinsCT p.G1439Lfs*34 Frameshift 34/42 - 1
16-2134539-G-A c.4316G>A p.G1439D Missense 34/42 - 4
16-2134541-C-T c.4318C>T p.Q1440* Nonsense 34/42 - 3
16-2134547-G-A c.4324G>A p.E1442K Missense 34/42 - 1
16-2134548-GAGGGTCCCTTGCCTTCCAGCTCCCCCCGCTCGCCCAGTGGC-G c.4325_4365del p.E1442Afs*68 Frameshift 34/42 - 1
16-2134559-C-G c.4336C>G p.P1446A Missense 34/42 - 1
16-2134560-C-T c.4337C>T p.P1446L Missense 34/42 - 1
16-2134565-A-C c.4342A>C p.S1448R Missense 34/42 - 1
16-2134567-C-A c.4344C>A p.S1448R Missense 34/42 - 1
16-2134567-C-G c.4344C>G p.S1448R Missense 34/42 - 1
16-2134569-C-T c.4346C>T p.S1449F Missense 34/42 - 1
16-2134572-C-G c.4349C>G p.P1450R Missense 34/42 - 4
16-2134572-C-T c.4349C>T p.P1450L Missense 34/42 - 1
16-2134574-C-A c.4351C>A p.R1451S Missense 34/42 - 1
16-2134578-C-T c.4355C>T p.S1452L Missense 34/42 - 1
16-2134588-CCTCCGGCCCCGAGGTTACA-C c.4367_4385del p.L1456Pfs*14 Frameshift 34/42 - 1
16-2134592-CG-GC c.4369_4370delinsGC p.R1457A Missense 34/42 - 1
16-2134596-C-T c.4373C>T p.P1458L Missense 34/42 - 2
16-2134598-CG-GC c.4375_4376delinsGC p.R1459A Missense 34/42 - 1
16-2134598-C-T c.4375C>T p.R1459* Nonsense 34/42 - 12
16-2134601-G-T c.4378G>T p.G1460C Missense 34/42 - 1
16-2134603-GTT-G c.4380_4381del p.Y1461Hfs*62 Frameshift 34/42 - 1
16-2134607-A-C c.4384A>C p.T1462P Missense 34/42 - 1
16-2134607-A-G c.4384A>G p.T1462A Missense 34/42 - 7
16-2134608-C-T c.4385C>T p.T1462I Missense 34/42 - 1
16-2134620-C-T c.4397C>T p.S1466L Missense 34/42 - 1
16-2134631-CGC-TGG c.4408_4410delinsTGG p.R1470W Missense 34/42 - 1
16-2134637-G-A c.4414G>A p.G1472S Missense 34/42 - 2
16-2134634-A-AG c.4415dup p.K1473Qfs*51 Frameshift 34/42 - 1
16-2134634-AG-A c.4415del p.G1472Afs*4 Frameshift 34/42 - 1
16-2134642-G-A c.4419G>A p.K1473= Synonymous 34/42 - 1
16-2134640-AAG-A c.4422_4423del p.R1474Sfs*49 Frameshift 34/42 - 1
16-2134649-G-C c.4426G>C p.E1476Q Missense 34/42 - 1
16-2134652-A-G c.4429A>G p.R1477G Missense 34/42 - 1
16-2134652-A-T c.4429A>T p.R1477W Missense 34/42 - 2
16-2134658-G-A c.4435G>A p.A1479T Missense 34/42 - 1
16-2134660-C-A c.4437C>A p.A1479= Synonymous 34/42 - 1
16-2134660-C-G c.4437C>G p.A1479= Synonymous 34/42 - 1
16-2134660-C-T c.4437C>T p.A1479= Synonymous 34/42 - 1
16-2134662-T-TA c.4442dup p.S1482Efs*42 Frameshift 34/42 - 1
16-2134676-ACAG-A c.4455_4457del p.A1486del InFrameDeletion 34/42 - 1
16-2134683-C-G c.4460C>G p.S1487C Missense 34/42 - 1
16-2134684-C-T c.4461C>T p.S1487= Synonymous 34/42 - 1
16-2134691-G-A c.4468G>A p.E1490K Missense 34/42 - 1
16-2134692-A-G c.4469A>G p.E1490G Missense 34/42 - 5
16-2134693-GA-TT c.4470_4471delinsTT p.E1490_K1491delinsD* MultiAAMissense 34/42 - 1
16-2134693-G-C c.4470G>C p.E1490D Missense 34/42 - 1
16-2134694-A-G c.4471A>G p.K1491E Missense 34/42 - 1
16-2134712-C-A c.4489C>A p.P1497T Missense 34/42 - 1
16-2134712-C-T c.4489C>T p.P1497S Missense 34/42 - 1
16-2134713-C-G c.4490C>G p.P1497R Missense 34/42 - 2
16-2134713-C-T c.4490C>T p.P1497L Missense 34/42 - 3
16-2134715-A-C c.4492A>C p.S1498R Missense 34/42 - 1
16-2134716-G-A c.4493G>A p.S1498N Missense 34/42 - 2
16-2134717-G-A c.4493+1G>A - IntronicSNV - 34/41 2
16-2134734-G-A c.4493+18G>A - IntronicSNV - 34/41 1
16-2134951-G-GT c.4496dup p.V1500Rfs*24 Frameshift - - 1
16-2134956-G-A c.4498G>A p.V1500M Missense 35/42 - 1
16-2134960-T-C c.4502T>C p.F1501S Missense 35/42 - 1
16-2134965-C-A c.4507C>A p.Q1503K Missense 35/42 - 1
16-2134966-A-C c.4508A>C p.Q1503P Missense 35/42 - 1
16-2134969-T-C c.4511T>C p.L1504P Missense 35/42 - 2
16-2134977-T-C c.4519T>C p.S1507P Missense 35/42 - 1
16-2134981-CCTT-C c.4527_4529del p.F1510del InFrameDeletion 35/42 - 5
16-2134986-CTTT-C c.4528_4530del p.F1510del InFrameDeletion 35/42 - 2
16-2134988-TTGGCGACG-T c.4530_4537del p.F1510Lfs*11 Frameshift 35/42 - 1
16-2134992-G-A c.4534G>A p.D1512N Missense 35/42 - 1
16-2134991-CGACGA-C c.4535_4539del p.D1512Vfs*10 Frameshift 35/42 - 1
16-2134993-A-C c.4535A>C p.D1512A Missense 35/42 - 1
16-2134995-G-A c.4537G>A p.E1513K Missense 35/42 - 1
16-2134995-G-T c.4537G>T p.E1513* Nonsense 35/42 - 1
16-2134999-C-A c.4541C>A p.S1514* Nonsense 35/42 - 2
16-2134999-C-G c.4541C>G p.S1514* Nonsense 35/42 - 4
16-2134998-TCAAA-T c.4544_4547del p.N1515Sfs*60 Frameshift 35/42 - 2
16-2135006-G-T c.4548G>T p.K1516N Missense 35/42 - 1
16-2135005-AGCCAATCCTGCTGCCCAATGAGGTAGGCGTG-A c.4551_4569+12del - SpliceDonorDeletion 35/42 35/41 1
16-2135018-TG-T c.4560del p.N1522Mfs*54 Frameshift 35/42 - 1
16-2135023-AAT-A c.4565_4566del p.N1522Rfs*6 Frameshift 35/42 - 1
16-2135023-A-G c.4565A>G p.N1522S Missense 35/42 - 1
16-2135023-A-T c.4565A>T p.N1522I Missense 35/42 - 1
16-2135025-G-A c.4567G>A p.E1523K Missense 35/42 - 1
16-2135230-G-GT c.4570dup p.S1524Ffs*5 SpliceAcceptorInsertion 36/42 - 1
16-2135231-TCA-T c.4573_4574del p.Q1525Vfs*3 Frameshift 36/42 - 1
16-2135234-C-T c.4573C>T p.Q1525* Nonsense 36/42 - 2
16-2135239-CT-C c.4581del p.F1527Lfs*49 Frameshift 36/42 - 1
16-2135243-G-C c.4582G>C p.E1528Q Missense 36/42 - 1
16-2135246-CG-GC c.4585_4586delinsGC p.R1529A Missense 36/42 - 1
16-2135247-G-A c.4586G>A p.R1529Q Missense 36/42 - 1
16-2135250-C-T c.4589C>T p.S1530L Missense 36/42 - 1
16-2135252-G-A c.4591G>A p.V1531M Missense 36/42 - 1
16-2135255-C-T c.4594C>T p.Q1532* Nonsense 36/42 - 1
16-2135258-CT-GC c.4597_4598delinsGC p.L1533A Missense 36/42 - 1
16-2135263-C-T c.4602C>T p.L1534= Synonymous 36/42 - 1
16-2135262-TCGA-T c.4603_4605del p.D1535del InFrameDeletion 36/42 - 1
16-2135264-G-A c.4603G>A p.D1535N Missense 36/42 - 2
16-2135264-G-T c.4603G>T p.D1535Y Missense 36/42 - 2
16-2135265-A-C c.4604A>C p.D1535A Missense 36/42 - 2
16-2135265-A-T c.4604A>T p.D1535V Missense 36/42 - 2
16-2135273-C-T c.4612C>T p.P1538S Missense 36/42 - 2
16-2135274-C-T c.4613C>T p.P1538L Missense 36/42 - 1
16-2135281-C-A c.4620C>A p.Y1540* Nonsense 36/42 - 2
16-2135281-C-G c.4620C>G p.Y1540* Nonsense 36/42 - 2
16-2135281-C-T c.4620C>T p.Y1540= Synonymous 36/42 - 1
16-2135282-G-A c.4621G>A p.D1541N Missense 36/42 - 1
16-2135289-A-G c.4628A>G p.H1543R Missense 36/42 - 2
16-2135299-C-A c.4638C>A p.A1546= Synonymous 36/42 - 1
16-2135297-GCCGT-G c.4639_4642del p.V1547Cfs*28 Frameshift 36/42 - 1
16-2135300-G-A c.4639G>A p.V1547I Missense 36/42 - 8
16-2135302-C-T c.4641C>T p.V1547= Synonymous 36/42 - 1
16-2135303-C-A c.4642C>A p.L1548M Missense 36/42 - 1
16-2135306-T-A c.4645T>A p.Y1549N Missense 36/42 - 2
16-2135306-T-C c.4645T>C p.Y1549H Missense 36/42 - 1
16-2135307-A-G c.4646A>G p.Y1549C Missense 36/42 - 4
16-2135311-TTGGA-T c.4650_4653del p.G1551Kfs*24 Frameshift 36/42 - 1
16-2135312-G-T c.4651G>T p.G1551* Nonsense 36/42 - 2
16-2135321-C-T c.4660C>T p.Q1554* Nonsense 36/42 - 2
16-2135323-G-C c.4662G>C p.Q1554H Missense 36/42 - 2
16-2135323-G-T c.4662G>T p.Q1554H Missense 36/42 - 2
16-2135324-G-A c.4662+1G>A - IntronicSNV - 36/41 1
16-2136201-G-A c.4670G>A p.S1557N Missense 37/42 - 1
16-2136203-G-A c.4672G>A p.E1558K Missense 37/42 - 4
16-2136209-G-GC c.4680dup p.I1561Hfs*5 Frameshift 37/42 - 1
16-2136216-T-C c.4685T>C p.L1562P Missense 37/42 - 2
16-2136222-A-G c.4691A>G p.N1564S Missense 37/42 - 1
16-2136230-G-C c.4699G>C p.G1567R Missense 37/42 - 1
16-2136231-G-A c.4700G>A p.G1567D Missense 37/42 - 1
16-2136231-G-T c.4700G>T p.G1567V Missense 37/42 - 1
16-2136232-C-T c.4701C>T p.G1567= Synonymous 37/42 - 1
16-2136238-C-A c.4707C>A p.Y1569* Nonsense 37/42 - 1
16-2136239-A-T c.4708A>T p.R1570W Missense 37/42 - 2
16-2136235-CTACAGG-C c.4709_4714del p.R1570_Y1571del InFrameDeletion 37/42 - 1
16-2136240-G-T c.4709G>T p.R1570M Missense 37/42 - 1
16-2136242-T-A c.4711T>A p.Y1571N Missense 37/42 - 1
16-2136243-A-G c.4712A>G p.Y1571C Missense 37/42 - 1
16-2136244-C-A c.4713C>A p.Y1571* Nonsense 37/42 - 1
16-2136244-C-G c.4713C>G p.Y1571* Nonsense 37/42 - 1
16-2136246-CG-C c.4717del p.E1573Sfs*3 Frameshift 37/42 - 1
16-2136260-G-A c.4729G>A p.G1577S Missense 37/42 - 1
16-2136258-CG-C c.4730del p.G1577Afs*8 Frameshift 37/42 - 2
16-2136266-G-A c.4735G>A p.G1579S Missense 37/42 - 1
16-2136266-GGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGA-G c.4735_4793del p.G1579Rfs*4 Frameshift 37/42 - 1
16-2136267-G-A c.4736G>A p.G1579D Missense 37/42 - 1
16-2136268-C-T c.4737C>T p.G1579= Synonymous 37/42 - 1
16-2136269-C-T c.4738C>T p.R1580W Missense 37/42 - 5
16-2136272-CTCA-C c.4744_4746del p.I1582del InFrameDeletion 37/42 - 1
16-2136278-G-A c.4747G>A p.E1583K Missense 37/42 - 1
16-2136278-G-T c.4747G>T p.E1583* Nonsense 37/42 - 1
16-2136281-GC-G c.4750del p.L1584* Frameshift 37/42 - 1
16-2136282-T-G c.4751T>G p.L1584R Missense 37/42 - 1
16-2136284-GAAGGACTGCCA-G c.4753_4763del p.K1585Afs*14 Frameshift 37/42 - 1
16-2136293-C-T c.4762C>T p.Q1588* Nonsense 37/42 - 2
16-2136296-C-T c.4765C>T p.P1589S Missense 37/42 - 1
16-2136295-GC-G c.4766del p.P1589Rfs*36 Frameshift 37/42 - 1
16-2136297-C-T c.4766C>T p.P1589L Missense 37/42 - 1
16-2136298-G-A c.4767G>A p.P1589= Synonymous 37/42 - 1
16-2136298-G-C c.4767G>C p.P1589= Synonymous 37/42 - 1
16-2136298-G-T c.4767G>T p.P1589= Synonymous 37/42 - 1
16-2136301-C-T c.4770C>T p.D1590= Synonymous 37/42 - 1
16-2136301-CA-C c.4772del p.K1591Rfs*34 Frameshift 37/42 - 1
16-2136311-C-T c.4780C>T p.L1594= Synonymous 37/42 - 1
16-2136314-G-A c.4783G>A p.G1595R Missense 37/42 - 1
16-2136317-GG-AA c.4786_4787delinsAA p.G1596N Missense 37/42 - 1
16-2136318-G-A c.4787G>A p.G1596D Missense 37/42 - 1
16-2136318-G-T c.4787G>T p.G1596V Missense 37/42 - 2
16-2136319-CCTGGA-C c.4790_4794del p.L1597Rfs*4 Frameshift 37/42 - 1
16-2136326-G-A c.4795G>A p.V1599M Missense 37/42 - 1
16-2136325-CGT-C c.4800_4801del p.C1600Wfs*2 Frameshift 37/42 - 1
16-2136341-G-A c.4810G>A p.G1604S Missense 37/42 - 1
16-2136341-G-T c.4810G>T p.G1604C Missense 37/42 - 1
16-2136344-C-T c.4813C>T p.Q1605* Nonsense 37/42 - 2
16-2136359-T-G c.4828T>G p.W1610G Missense 37/42 - 1
16-2136360-G-A c.4829G>A p.W1610* Nonsense 37/42 - 1
16-2136361-G-A c.4830G>A p.W1610* Nonsense 37/42 - 5
16-2136365-G-A c.4834G>A p.D1612N Missense 37/42 - 1
16-2136368-G-A c.4837G>A p.D1613N Missense 37/42 - 1
16-2136371-CA-C c.4840del p.I1614Sfs*11 Frameshift 37/42 - 1
16-2136377-C-T c.4846C>T p.Q1616* Nonsense 37/42 - 1
16-2136379-AGGTACGGCCT-A c.4849+2_4849+11del - IntronicDeletion - 37/41 1
16-2136624-T-C c.4850-109T>C - IntronicSNV - 37/41 3
16-2136624-T-G c.4850-109T>G - IntronicSNV - 37/41 3
16-2136734-C-T c.4851C>T p.A1617= Synonymous 38/42 - 1
16-2136739-T-C c.4856T>C p.F1619S Missense 38/42 - 1
16-2136741-C-A c.4858C>A p.H1620N Missense 38/42 - 1
16-2136741-C-T c.4858C>T p.H1620Y Missense 38/42 - 3
16-2136742-A-G c.4859A>G p.H1620R Missense 38/42 - 3
16-2136744-A-T c.4861A>T p.I1621F Missense 38/42 - 1
16-2136747-G-A c.4864G>A p.A1622T Missense 38/42 - 2
16-2136751-C-T c.4868C>T p.T1623I Missense 38/42 - 2
16-2136754-T-C c.4871T>C p.L1624P Missense 38/42 - 3
16-2136756-A-G c.4873A>G p.M1625V Missense 38/42 - 1
16-2136771-G-A c.4888G>A p.V1630M Missense 38/42 - 1
16-2136772-TG-T c.4891del p.D1631Tfs*41 Frameshift 38/42 - 1
16-2136784-G-A c.4901G>A p.R1634H Missense 38/42 - 1
16-2136788-C-A c.4905C>A p.C1635* Nonsense 38/42 - 1
16-2136789-G-A c.4906G>A p.D1636N Missense 38/42 - 1
16-2136792-CAA-C c.4909_4910del p.K1637Efs*15 Frameshift 38/42 - 1
16-2136791-CAAG-C c.4912_4914del p.K1638del InFrameDeletion 38/42 - 3
16-2136795-A-G c.4912A>G p.K1638E Missense 38/42 - 1
16-2136797-G-C c.4914G>C p.K1638N Missense 38/42 - 1
16-2136797-G-T c.4914G>T p.K1638N Missense 38/42 - 1
16-2136798-C-T c.4915C>T p.R1639C Missense 38/42 - 1
16-2136801-C-T c.4918C>T p.H1640Y Missense 38/42 - 2
16-2136808-G-A c.4925G>A p.G1642D Missense 38/42 - 6
16-2136810-A-C c.4927A>C p.N1643H Missense 38/42 - 1
16-2136811-A-G c.4928A>G p.N1643S Missense 38/42 - 2
16-2136811-A-T c.4928A>T p.N1643I Missense 38/42 - 2
16-2136812-C-A c.4929C>A p.N1643K Missense 38/42 - 6
16-2136812-C-G c.4929C>G p.N1643K Missense 38/42 - 6
16-2136813-G-A c.4930G>A p.D1644N Missense 38/42 - 2
16-2136815-C-CT c.4935dup p.V1646Cfs*7 Frameshift 38/42 - 1
16-2136819-G-A c.4936G>A p.V1646M Missense 38/42 - 1
16-2136819-G-C c.4936G>C p.V1646L Missense 38/42 - 1
16-2136819-G-T c.4936G>T p.V1646L Missense 38/42 - 1
16-2136820-T-G c.4937T>G p.V1646G Missense 38/42 - 2
16-2136825-A-T c.4942A>T p.I1648F Missense 38/42 - 1
16-2136826-T-C c.4943T>C p.I1648T Missense 38/42 - 1
16-2136828-G-C c.4945G>C p.V1649L Missense 38/42 - 1
16-2136830-TC-T c.4947del p.Y1650Tfs*22 Frameshift 38/42 - 1
16-2136831-T-A c.4948T>A p.Y1650N Missense 38/42 - 1
16-2136831-T-C c.4948T>C p.Y1650H Missense 38/42 - 1
16-2136832-A-C c.4949A>C p.Y1650S Missense 38/42 - 1
16-2136832-A-G c.4949A>G p.Y1650C Missense 38/42 - 2
16-2136834-A-C c.4951A>C p.N1651H Missense 38/42 - 1
16-2136834-A-G c.4951A>G p.N1651D Missense 38/42 - 1
16-2136835-A-G c.4952A>G p.N1651S Missense 38/42 - 6
16-2136840-T-C c.4957T>C p.S1653P Missense 38/42 - 1
16-2136841-C-T c.4958C>T p.S1653F Missense 38/42 - 2
16-2136843-G-A c.4960G>A p.G1654S Missense 38/42 - 1
16-2136849-G-A c.4966G>A p.D1656N Missense 38/42 - 1
16-2136849-G-T c.4966G>T p.D1656Y Missense 38/42 - 1
16-2136851-C-T c.4968C>T p.D1656= Synonymous 38/42 - 1
16-2136861-G-C c.4978G>C p.G1660R Missense 38/42 - 1
16-2136869-C-G c.4986C>G p.I1662M Missense 38/42 - 1
16-2136872-GGTGA-G c.4989+6_4989+9del - SpliceDonorDeletion - 38/41 1
16-2136892-T-A c.4989+20T>A - IntronicSNV - 38/41 1
16-2137858-G-A c.4990-6G>A - IntronicSNV - 38/41 1
16-2137858-G-T c.4990-6G>T - IntronicSNV - 38/41 1
16-2137864-G-A c.4990G>A p.G1664S Missense 39/42 - 1
16-2137867-C-A c.4993C>A p.Q1665K Missense 39/42 - 1
16-2137870-GTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCT-G c.4996_5054del p.F1666Afs*20 Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 39/42 - 1
16-2137891-G-C c.5017G>C p.V1673L Missense 39/42 - 1
16-2137891-G-T c.5017G>T p.V1673F Missense 39/42 - 1
16-2137892-T-A c.5018T>A p.V1673D Missense 39/42 - 1
16-2137898-C-A c.5024C>A p.P1675Q Missense 39/42 - 2
16-2137898-C-G c.5024C>G p.P1675R Missense 39/42 - 2
16-2137898-C-T c.5024C>T p.P1675L Missense 39/42 - 6
16-2137899-CG-C c.5025del p.L1676Wfs*150 Frameshift 39/42 - 1
16-2137904-GA-G c.5030del p.D1677Afs*149 Frameshift 39/42 - 1
16-2137905-C-CT c.5032dup p.Y1678Lfs*28 Frameshift 39/42 - 1
16-2137908-C-G c.5034C>G p.Y1678* Nonsense 39/42 - 1
16-2137909-G-A c.5035G>A p.E1679K Missense 39/42 - 2
16-2137919-T-C c.5045T>C p.L1682P Missense 39/42 - 1
16-2137919-TG-T c.5047del p.V1683Cfs*143 Frameshift 39/42 - 2
16-2137921-G-C c.5047G>C p.V1683L Missense 39/42 - 1
16-2137922-T-TGG c.5049_5050insGG p.S1684Gfs*143 Frameshift 39/42 - 1
16-2137925-TCCCTGCAGTGCAGGAAAG-T c.5051_5068del p.S1684_D1690delinsY SpliceDonorDeletion 39/42 - 2
16-2137927-C-A c.5053C>A p.L1685M Missense 39/42 - 1
16-2137932-G-C c.5058G>C p.Q1686H Missense 39/42 - 1
16-2137932-G-GT c.5059dup p.C1687Lfs*19 Frameshift 39/42 - 1
16-2137944-T-C c.5068+2T>C - IntronicSNV - 39/41 1
16-2137924-TCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGG-T c.5068+27_5069-47del - SpliceDonorDeletion - 39/41 1
16-2138038-A-G c.5069-11A>G - IntronicSNV - 39/41 1
16-2138058-G-A c.5078G>A p.G1693D Missense 40/42 - 1
16-2138065-G-GT c.5085_5086insT p.D1696* Nonsense 40/42 - 1
16-2138072-A-G c.5092A>G p.S1698G Missense 40/42 - 1
16-2138072-A-C c.5092A>C p.S1698R Missense 40/42 - 1
16-2138074-C-A c.5094C>A p.S1698R Missense 40/42 - 3
16-2138074-C-G c.5094C>G p.S1698R Missense 40/42 - 1
16-2138078-G-T c.5098G>T p.A1700S Missense 40/42 - 1
16-2138086-C-CCACA c.5106_5107insCACA p.V1703Hfs*4 Frameshift 40/42 - 1
16-2138086-C-T c.5106C>T p.I1702= Synonymous 40/42 - 1
16-2138087-G-GT c.5108dup p.S1704Vfs*2 Frameshift 40/42 - 1
16-2138090-GT-G c.5110del p.S1704Lfs*122 Frameshift 40/42 - 1
16-2138090-T-A c.5110T>A p.S1704T Missense 40/42 - 1
16-2138096-C-T c.5116C>T p.R1706C Missense 40/42 - 1
16-2138097-G-A c.5117G>A p.R1706H Missense 40/42 - 3
16-2138102-C-A c.5122C>A p.L1708M Missense 40/42 - 1
16-2138106-C-G c.5126C>G p.P1709R Missense 40/42 - 1
16-2138106-C-T c.5126C>T p.P1709L Missense 40/42 - 4
16-2138104-GC-G c.5127del p.F1710Sfs*116 Frameshift 40/42 - 1
16-2138111-G-A c.5131G>A p.V1711M Missense 40/42 - 4
16-2138115-C-T c.5135C>T p.A1712V Missense 40/42 - 1
16-2138118-G-A c.5138G>A p.R1713H Missense 40/42 - 7
16-2138118-G-C c.5138G>C p.R1713P Missense 40/42 - 1
16-2138126-GGCC-G c.5146_5148del p.A1716del InFrameDeletion 40/42 - 1
16-2138129-C-A c.5149C>A p.L1717M Missense 40/42 - 1
16-2138130-T-C c.5150T>C p.L1717P Missense 40/42 - 1
16-2138135-G-A c.5155G>A p.A1719T Missense 40/42 - 1
16-2138135-G-C c.5155G>C p.A1719P Missense 40/42 - 1
16-2138141-G-A c.5160+1G>A - IntronicSNV - 40/41 1
16-2138142-GT-G c.5160+2del - IntronicDeletion - 40/41 1
16-2138143-G-C c.5160+3G>C - IntronicSNV - 40/41 1
16-2138144-A-G c.5160+4A>G - IntronicSNV - 40/41 1
16-2138145-G-T c.5160+5G>T - IntronicSNV - 40/41 2
16-2138228-GA-G c.5161del p.M1721Wfs*105 Frameshift 41/42 - 1
16-2138235-C-A c.5168C>A p.S1723* Nonsense 41/42 - 1
16-2138235-C-CA c.5169dup p.Q1724Tfs*5 Frameshift 41/42 - 1
16-2138237-C-G c.5170C>G p.Q1724E Missense 41/42 - 1
16-2138238-A-G c.5171A>G p.Q1724R Missense 41/42 - 1
16-2138242-TGC-T c.5175_5176del p.H1726Sfs*2 Frameshift 41/42 - 1
16-2138243-CA-AG c.5176_5177delinsAG p.H1726S Missense 41/42 - 1
16-2138246-CAT-C c.5181_5182del p.H1727Qfs*47 Frameshift 41/42 - 1
16-2138252-C-T c.5185C>T p.R1729C Missense 41/42 - 2
16-2138258-A-G c.5191A>G p.N1731D Missense 41/42 - 1
16-2138261-C-G c.5194C>G p.P1732A Missense 41/42 - 1
16-2138264-A-AC c.5199dup p.D1734Rfs*41 Frameshift 41/42 - 1
16-2138267-G-A c.5200G>A p.D1734N Missense 41/42 - 1
16-2138269-T-A c.5202T>A p.D1734E Missense 41/42 - 3
16-2138269-T-C c.5202T>C p.D1734= Synonymous 41/42 - 6
16-2138269-T-G c.5202T>G p.D1734E Missense 41/42 - 3
16-2138276-C-A c.5209C>A p.P1737T Missense 41/42 - 3
16-2138279-CT-C c.5212del p.S1738Pfs*88 Frameshift 41/42 - 1
16-2138286-G-A c.5219G>A p.W1740* Nonsense 41/42 - 1
16-2138287-G-A c.5220G>A p.W1740* Nonsense 41/42 - 1
16-2138294-C-G c.5227C>G p.R1743G Missense 41/42 - 2
16-2138294-C-T c.5227C>T p.R1743W Missense 41/42 - 8
16-2138295-G-A c.5228G>A p.R1743Q Missense 41/42 - 13
16-2138295-G-C c.5228G>C p.R1743P Missense 41/42 - 2
16-2138295-GG-AT c.5228_5229delinsAT p.R1743H Missense 41/42 - 1
16-2138295-G-T c.5228G>T p.R1743L Missense 41/42 - 2
16-2138300-C-T c.5233C>T p.R1745C Missense 41/42 - 2
16-2138301-G-A c.5234G>A p.R1745H Missense 41/42 - 1
16-2138293-CCGGCTCCGCCACATCAAG-C c.5238_5255del p.H1746_R1751del InFrameDeletion 41/42 - 12
16-2138304-A-AC c.5238dup p.I1747Hfs*28 Frameshift 41/42 - 1
16-2138305-AC-A c.5238del p.H1746Qfs*80 Frameshift 41/42 - 1
16-2138305-C-T c.5238C>T p.H1746= Synonymous 41/42 - 1
16-2138309-A-T c.5242A>T p.K1748* Nonsense 41/42 - 1
16-2138312-CG-GC c.5245_5246delinsGC p.R1749A Missense 41/42 - 1
16-2138313-G-A c.5246G>A p.R1749Q Missense 41/42 - 1
16-2138318-C-T c.5251C>T p.R1751C Missense 41/42 - 5
16-2138312-CGGCTCCGCCAGCGGGTAGGGAATATGG-C c.5252_5259+19del - SpliceDonorDeletion 41/42 41/41 2
16-2138316-TCCG-T c.5252_5254del p.R1751del InFrameDeletion 41/42 - 6
16-2138321-C-T c.5254C>T p.Q1752* Nonsense 41/42 - 1
16-2138324-C-T c.5257C>T p.R1753W Missense 41/42 - 1
16-2138327-G-A c.5259+1G>A - IntronicSNV - 41/41 1
16-2138447-A-G c.5260A>G p.I1754V Missense 42/42 - 1
16-2138449-C-G c.5262C>G p.I1754M Missense 42/42 - 1
16-2138455-G-A c.5268G>A p.E1756= Synonymous 42/42 - 1
16-2138462-G-A c.5275G>A p.A1759T Missense 42/42 - 1
16-2138478-G-A c.5291G>A p.S1764N Missense 42/42 - 1
16-2138483-C-T c.5296C>T p.P1766S Missense 42/42 - 1
16-2138493-A-G c.5306A>G p.H1769R Missense 42/42 - 1
16-2138495-C-T c.5308C>T p.P1770S Missense 42/42 - 1
16-2138499-C-T c.5312C>T p.P1771L Missense 42/42 - 1
16-2138500-G-C c.5313G>C p.P1771= Synonymous 42/42 - 1
16-2138505-A-G c.5318A>G p.H1773R Missense 42/42 - 1
16-2138507-A-G c.5320A>G p.S1774G Missense 42/42 - 2
16-2138508-G-C c.5321G>C p.S1774T Missense 42/42 - 2
16-2138516-C-T c.5329C>T p.P1777S Missense 42/42 - 1
16-2138536-GC-G c.5352del p.T1785Hfs*41 Frameshift 42/42 - 2
16-2138543-C-T c.5356C>T p.P1786S Missense 42/42 - 1
16-2138544-C-G c.5357C>G p.P1786R Missense 42/42 - 2
16-2138546-G-A c.5359G>A p.G1787S Missense 42/42 - 3
16-2138550-A-G c.5363A>G p.Y1788C Missense 42/42 - 1
16-2138554-G-A c.5367G>A p.E1789= Synonymous 42/42 - 1
16-2138564-CGG-TGT c.5377_5379delinsTGT p.R1793C Missense 42/42 - 1
16-2138564-C-T c.5377C>T p.R1793W Missense 42/42 - 2
16-2138565-G-A c.5378G>A p.R1793Q Missense 42/42 - 2
16-2138570-C-T c.5383C>T p.R1795C Missense 42/42 - 3
16-2138571-G-T c.5384G>T p.R1795L Missense 42/42 - 1
16-2138579-T-C c.5392T>C p.S1798P Missense 42/42 - 1
16-2138579-T-G c.5392T>G p.S1798A Missense 42/42 - 4
16-2138577-TCTC-T c.5394_5396del p.S1799del InFrameDeletion 42/42 - 1
16-2138582-CTCG-C c.5395_5397del p.S1799del InFrameDeletion 42/42 - 1
16-2138584-G-A c.5397G>A p.S1799= Synonymous 42/42 - 5
16-2138584-G-C c.5397G>C p.S1799= Synonymous 42/42 - 5
16-2138584-G-T c.5397G>T p.S1799= Synonymous 42/42 - 5
16-2138605-T-G c.5418T>G p.F1806L Missense 42/42 - 1
16-2139127-A-T c.*516A>T - IntergenicSNV 42/42 - 6