KIT KIT proto-oncogene, receptor tyrosine kinase

Annotation transcript: NM_000222.3

1757 unique variant annotations were identified in 1792 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
4-55524185-A-G c.4A>G p.R2G Missense 1/21 - 1
4-55524185-A-C c.4A>C p.R2= Synonymous 1/21 - 16
4-55524187-A-G c.6A>G p.R2= Synonymous 1/21 - 16
4-55524190-C-A c.9C>A p.G3= Synonymous 1/21 - 1
4-55524190-C-G c.9C>G p.G3= Synonymous 1/21 - 1
4-55524190-C-T c.9C>T p.G3= Synonymous 1/21 - 1
4-55524195-GC-AA c.14_15delinsAA p.R5Q Missense 1/21 - 1
4-55524196-C-A c.15C>A p.R5= Synonymous 1/21 - 3
4-55524196-C-G c.15C>G p.R5= Synonymous 1/21 - 3
4-55524196-C-T c.15C>T p.R5= Synonymous 1/21 - 3
4-55524198-G-A c.17G>A p.G6D Missense 1/21 - 2
4-55524197-GGCGCCT-G c.18_23del p.A7_W8del InFrameDeletion 1/21 - 1
4-55524200-G-A c.19G>A p.A7T Missense 1/21 - 2
4-55524206-G-A c.25G>A p.D9N Missense 1/21 - 3
4-55524209-TT-AC c.28_29delinsAC p.F10T Missense 1/21 - 2
4-55524209-TT-GC c.28_29delinsGC p.F10A Missense 1/21 - 2
4-55524214-C-A c.33C>A p.L11= Synonymous 1/21 - 1
4-55524214-C-G c.33C>G p.L11= Synonymous 1/21 - 1
4-55524214-C-T c.33C>T p.L11= Synonymous 1/21 - 1
4-55524215-T-A c.34T>A p.C12S Missense 1/21 - 1
4-55524216-G-A c.35G>A p.C12Y Missense 1/21 - 2
4-55524216-G-C c.35G>C p.C12S Missense 1/21 - 2
4-55524216-G-T c.35G>T p.C12F Missense 1/21 - 1
4-55524216-TG-T c.35del p.C12Sfs*18 Frameshift 1/21 - 1
4-55524217-C-T c.36C>T p.C12= Synonymous 1/21 - 1
4-55524218-G-A c.37G>A p.V13I Missense 1/21 - 1
4-55524218-G-C c.37G>C p.V13L Missense 1/21 - 1
4-55524222-T-G c.41T>G p.L14R Missense 1/21 - 1
4-55524230-C-T c.49C>T p.L17= Synonymous 1/21 - 2
4-55524233-C-T c.52C>T p.L18F Missense 1/21 - 1
4-55524234-T-C c.53T>C p.L18P Missense 1/21 - 1
4-55524236-C-G c.55C>G p.R19G Missense 1/21 - 1
4-55524236-C-T c.55C>T p.R19C Missense 1/21 - 3
4-55524237-G-A c.56G>A p.R19H Missense 1/21 - 2
4-55524242-CAG-GAC c.61_63delinsGAC p.Q21D Missense 1/21 - 8
4-55524245-A-G c.64A>G p.T22A Missense 1/21 - 1
4-55524248-G-A c.67G>A p.G23S Missense 1/21 - 1
4-55524252-G-A c.67+4G>A - IntronicSNV - 1/20 1
4-55524304-T-C c.67+56T>C - IntronicSNV - 1/20 2
4-55525930-A-C c.67+1682A>C - IntronicSNV - 1/20 1
4-55526702-A-G c.67+2454A>G - IntronicSNV - 1/20 1
4-55526702-A-T c.67+2454A>T - IntronicSNV - 1/20 1
4-55537014-T-C c.67+12766T>C - IntronicSNV - 1/20 1
4-55537481-C-G c.67+13233C>G - IntronicSNV - 1/20 1
4-55537481-C-T c.67+13233C>T - IntronicSNV - 1/20 1
4-55541879-T-C c.67+17631T>C - IntronicSNV - 1/20 2
4-55548475-T-C c.68-13203T>C - IntronicSNV - 1/20 1
4-55552330-T-C c.68-9348T>C - IntronicSNV - 1/20 1
4-55554331-T-C c.68-7347T>C - IntronicSNV - 1/20 1
4-55561678-G-C c.68G>C p.G23A Missense 2/21 - 1
4-55561680-T-G c.70T>G p.S24A Missense 2/21 - 2
4-55561681-C-G c.71C>G p.S24C Missense 2/21 - 3
4-55561681-C-T c.71C>T p.S24F Missense 2/21 - 1
4-55561683-TC-GA c.73_74inv p.S25D Missense 2/21 - 1
4-55561683-T-G c.73T>G p.S25A Missense 2/21 - 1
4-55561689-CCA-AAC c.79_81delinsAAC p.P27N Missense 2/21 - 1
4-55561689-CCA-TGT c.79_81delinsTGT p.P27C Missense 2/21 - 1
4-55561692-T-G c.82T>G p.S28A Missense 2/21 - 1
4-55561693-C-G c.83C>G p.S28C Missense 2/21 - 2
4-55561693-C-CT c.84dup p.V29Cfs*27 Frameshift 2/21 - 1
4-55561698-AG-CT c.88_89inv p.S30L Missense 2/21 - 1
4-55561699-G-A c.89G>A p.S30N Missense 2/21 - 1
4-55561701-C-A c.91C>A p.P31T Missense 2/21 - 1
4-55561702-C-T c.92C>T p.P31L Missense 2/21 - 1
4-55561703-A-C c.93A>C p.P31= Synonymous 2/21 - 1
4-55561703-A-G c.93A>G p.P31= Synonymous 2/21 - 1
4-55561703-A-T c.93A>T p.P31= Synonymous 2/21 - 1
4-55561704-G-A c.94G>A p.G32R Missense 2/21 - 1
4-55561705-G-A c.95G>A p.G32E Missense 2/21 - 1
4-55561705-G-C c.95G>C p.G32A Missense 2/21 - 1
4-55561705-G-T c.95G>T p.G32V Missense 2/21 - 1
4-55561706-G-A c.96G>A p.G32= Synonymous 2/21 - 2
4-55561706-G-C c.96G>C p.G32= Synonymous 2/21 - 1
4-55561706-G-T c.96G>T p.G32= Synonymous 2/21 - 1
4-55561707-GAA-TTT c.97_99delinsTTT p.E33F Missense 2/21 - 2
4-55561709-A-C c.99A>C p.E33D Missense 2/21 - 1
4-55561709-A-T c.99A>T p.E33D Missense 2/21 - 1
4-55561711-C-T c.101C>T p.P34L Missense 2/21 - 2
4-55561716-C-A c.106C>A p.P36T Missense 2/21 - 1
4-55561717-C-A c.107C>A p.P36Q Missense 2/21 - 1
4-55561718-A-G c.108A>G p.P36= Synonymous 2/21 - 1
4-55561719-C-G c.109C>G p.P37A Missense 2/21 - 2
4-55561719-C-T c.109C>T p.P37S Missense 2/21 - 1
4-55561725-A-G c.115A>G p.I39V Missense 2/21 - 1
4-55561727-C-G c.117C>G p.I39M Missense 2/21 - 2
4-55561730-T-A c.120T>A p.H40Q Missense 2/21 - 1
4-55561730-T-G c.120T>G p.H40Q Missense 2/21 - 2
4-55561731-C-A c.121C>A p.P41T Missense 2/21 - 1
4-55561731-C-T c.121C>T p.P41S Missense 2/21 - 1
4-55561732-CCA-C c.122_123del p.P41Rfs*14 Frameshift 2/21 - 2
4-55561732-C-T c.122C>T p.P41L Missense 2/21 - 1
4-55561734-G-A c.124G>A p.G42R Missense 2/21 - 1
4-55561734-G-C c.124G>C p.G42R Missense 2/21 - 1
4-55561743-GA-CG c.133_134delinsCG p.D45R Missense 2/21 - 1
4-55561743-GACTT-G c.135_138del p.D45Efs*2 Frameshift 2/21 - 1
4-55561751-TAGTCCG-T c.141_146del p.R49_V50del InFrameDeletion 2/21 - 1
4-55561755-C-T c.145C>T p.R49C Missense 2/21 - 4
4-55561756-G-A c.146G>A p.R49H Missense 2/21 - 4
4-55561757-C-A c.147C>A p.R49= Synonymous 2/21 - 3
4-55561757-C-G c.147C>G p.R49= Synonymous 2/21 - 1
4-55561757-C-T c.147C>T p.R49= Synonymous 2/21 - 3
4-55561758-G-A c.148G>A p.V50M Missense 2/21 - 5
4-55561758-G-C c.148G>C p.V50L Missense 2/21 - 2
4-55561758-G-T c.148G>T p.V50L Missense 2/21 - 5
4-55561760-G-GTT c.150_151insTT p.G51Lfs*54 Frameshift 2/21 - 1
4-55561762-GC-AG c.152_153delinsAG p.G51E Missense 2/21 - 1
4-55561763-C-G c.153C>G p.G51= Synonymous 2/21 - 1
4-55561764-G-A c.154G>A p.D52N Missense 2/21 - 11
4-55561765-A-G c.155A>G p.D52G Missense 2/21 - 1
4-55561762-GCGA-G c.156_158del p.D52del InFrameDeletion 2/21 - 1
4-55561766-C-T c.156C>T p.D52= Synonymous 2/21 - 1
4-55561767-G-A c.157G>A p.E53K Missense 2/21 - 2
4-55561767-G-C c.157G>C p.E53Q Missense 2/21 - 1
4-55561768-A-C c.158A>C p.E53A Missense 2/21 - 1
4-55561768-A-G c.158A>G p.E53G Missense 2/21 - 1
4-55561774-G-A c.164G>A p.R55K Missense 2/21 - 1
4-55561777-T-A c.167T>A p.L56Q Missense 2/21 - 1
4-55561781-A-C c.171A>C p.L57F Missense 2/21 - 1
4-55561781-A-T c.171A>T p.L57F Missense 2/21 - 1
4-55561787-T-A c.177T>A p.T59= Synonymous 2/21 - 1
4-55561787-T-C c.177T>C p.T59= Synonymous 2/21 - 1
4-55561787-T-G c.177T>G p.T59= Synonymous 2/21 - 1
4-55561788-G-A c.178G>A p.D60N Missense 2/21 - 1
4-55561790-T-A c.180T>A p.D60E Missense 2/21 - 1
4-55561790-T-G c.180T>G p.D60E Missense 2/21 - 1
4-55561791-C-A c.181C>A p.P61T Missense 2/21 - 2
4-55561793-G-A c.183G>A p.P61= Synonymous 2/21 - 1
4-55561793-G-C c.183G>C p.P61= Synonymous 2/21 - 1
4-55561793-G-T c.183G>T p.P61= Synonymous 2/21 - 1
4-55561794-G-T c.184G>T p.G62C Missense 2/21 - 1
4-55561795-G-T c.185G>T p.G62V Missense 2/21 - 1
4-55561796-GCT-G c.186_187del p.F63Cfs*6 Frameshift 2/21 - 1
4-55561797-T-C c.187T>C p.F63L Missense 2/21 - 2
4-55561797-TT-GC c.187_188delinsGC p.F63A Missense 2/21 - 1
4-55561799-T-A c.189T>A p.F63L Missense 2/21 - 1
4-55561799-T-G c.189T>G p.F63L Missense 2/21 - 1
4-55561799-T-C c.189T>C p.F63= Synonymous 2/21 - 1
4-55561801-T-C c.191T>C p.V64A Missense 2/21 - 1
4-55561801-T-G c.191T>G p.V64G Missense 2/21 - 1
4-55561810-C-G c.200C>G p.T67S Missense 2/21 - 1
4-55561812-T-C c.202T>C p.F68L Missense 2/21 - 1
4-55561814-T-A c.204T>A p.F68L Missense 2/21 - 1
4-55561814-T-G c.204T>G p.F68L Missense 2/21 - 1
4-55561814-T-C c.204T>C p.F68= Synonymous 2/21 - 1
4-55561815-G-A c.205G>A p.E69K Missense 2/21 - 1
4-55561817-G-C c.207G>C p.E69D Missense 2/21 - 1
4-55561817-G-T c.207G>T p.E69D Missense 2/21 - 1
4-55561819-T-G c.209T>G p.I70S Missense 2/21 - 1
4-55561826-T-A c.216T>A p.D72E Missense 2/21 - 1
4-55561826-T-G c.216T>G p.D72E Missense 2/21 - 1
4-55561827-G-A c.217G>A p.E73K Missense 2/21 - 1
4-55561827-GA-AG c.217_218delinsAG p.E73R Missense 2/21 - 1
4-55561828-A-G c.218A>G p.E73G Missense 2/21 - 1
4-55561830-A-G c.220A>G p.T74A Missense 2/21 - 1
4-55561831-C-G c.221C>G p.T74R Missense 2/21 - 1
4-55561833-A-T c.223A>T p.N75Y Missense 2/21 - 1
4-55561832-G-GA c.224dup p.N75Kfs*2 Frameshift 2/21 - 1
4-55561836-G-A c.226G>A p.E76K Missense 2/21 - 2
4-55561836-G-C c.226G>C p.E76Q Missense 2/21 - 1
4-55561836-G-GA c.227dup p.N77Efs*2 Frameshift 2/21 - 1
4-55561838-G-C c.228G>C p.E76D Missense 2/21 - 1
4-55561838-G-T c.228G>T p.E76D Missense 2/21 - 1
4-55561839-A-C c.229A>C p.N77H Missense 2/21 - 1
4-55561840-A-G c.230A>G p.N77S Missense 2/21 - 1
4-55561840-A-T c.230A>T p.N77I Missense 2/21 - 1
4-55561842-TAA-T c.232_233del p.K78Afs*3 Frameshift 2/21 - 1
4-55561846-A-T c.236A>T p.Q79L Missense 2/21 - 1
4-55561850-T-A c.240T>A p.N80K Missense 2/21 - 1
4-55561851-G-T c.241G>T p.E81* Nonsense 2/21 - 1
4-55561856-G-T c.246G>T p.W82C Missense 2/21 - 1
4-55561857-A-C c.247A>C p.I83L Missense 2/21 - 1
4-55561854-TGGATCAC-T c.248_254del p.I83Kfs*19 Frameshift 2/21 - 1
4-55561859-C-G c.249C>G p.I83M Missense 2/21 - 1
4-55561860-A-G c.250A>G p.T84A Missense 2/21 - 1
4-55561861-C-T c.251C>T p.T84M Missense 2/21 - 5
4-55561862-G-A c.252G>A p.T84= Synonymous 2/21 - 1
4-55561862-G-C c.252G>C p.T84= Synonymous 2/21 - 1
4-55561862-G-T c.252G>T p.T84= Synonymous 2/21 - 1
4-55561869-GCA-TTT c.259_261delinsTTT p.A87F Missense 2/21 - 2
4-55561870-CA-AC c.260_261delinsAC p.A87D Missense 2/21 - 1
4-55561870-C-CA c.261dup p.E88Rfs*25 Frameshift 2/21 - 1
4-55561872-G-A c.262G>A p.E88K Missense 2/21 - 1
4-55561872-G-C c.262G>C p.E88Q Missense 2/21 - 1
4-55561872-G-T c.262G>T p.E88* Nonsense 2/21 - 1
4-55561875-GC-TT c.265_266delinsTT p.A89F Missense 2/21 - 1
4-55561878-AC-TG c.268_269delinsTG p.T90C Missense 2/21 - 1
4-55561878-A-G c.268A>G p.T90A Missense 2/21 - 1
4-55561879-CC-TG c.269_270delinsTG p.T90M Missense 2/21 - 3
4-55561879-C-T c.269C>T p.T90I Missense 2/21 - 1
4-55561887-GGC-TGG c.277_279delinsTGG p.G93W Missense 2/21 - 1
4-55561888-G-C c.278G>C p.G93A Missense 2/21 - 6
4-55561895-C-A c.285C>A p.Y95* Nonsense 2/21 - 1
4-55561895-C-T c.285C>T p.Y95= Synonymous 2/21 - 1
4-55561896-A-C c.286A>C p.T96P Missense 2/21 - 1
4-55561896-A-G c.286A>G p.T96A Missense 2/21 - 1
4-55561896-A-T c.286A>T p.T96S Missense 2/21 - 1
4-55561897-C-T c.287C>T p.T96M Missense 2/21 - 1
4-55561899-TG-GC c.289_290delinsGC p.C97A Missense 2/21 - 1
4-55561902-AC-CT c.292_293delinsCT p.T98L Missense 2/21 - 1
4-55561902-AC-GG c.292_293delinsGG p.T98G Missense 2/21 - 20
4-55561903-CC-TG c.293_294delinsTG p.T98M Missense 2/21 - 1
4-55561908-A-T c.298A>T p.K100* Nonsense 2/21 - 1
4-55561911-C-T c.301C>T p.H101Y Missense 2/21 - 1
4-55561914-G-A c.304G>A p.G102S Missense 2/21 - 3
4-55561921-G-T c.311G>T p.S104I Missense 2/21 - 3
4-55561927-C-T c.317C>T p.S106F Missense 2/21 - 1
4-55561935-G-A c.325G>A p.V109M Missense 2/21 - 1
4-55561935-GTG-TGT c.325_327delinsTGT p.V109C Missense 2/21 - 1
4-55561938-T-C c.328T>C p.F110L Missense 2/21 - 1
4-55561940-T-A c.330T>A p.F110L Missense 2/21 - 1
4-55561940-T-G c.330T>G p.F110L Missense 2/21 - 1
4-55561947-G-GATCCTGCCAAGCTTTTCCTTGTTGACCGCTCCTT c.337_337+1insATCCTGCCAAGCTTTTCCTTGTTGACCGCTCCTT p.Y125Sfs*8 SpliceDonorInsertion - - 1
4-55564453-C-A c.341C>A p.P114H Missense 3/21 - 1
4-55564453-C-T c.341C>T p.P114L Missense 3/21 - 1
4-55564455-GC-G c.345del p.K116Sfs*28 Frameshift 3/21 - 1
4-55564458-AA-TG c.346_347delinsTG p.K116W Missense 3/21 - 2
4-55564460-G-C c.348G>C p.K116N Missense 3/21 - 1
4-55564460-G-T c.348G>T p.K116N Missense 3/21 - 1
4-55564477-G-A c.365G>A p.R122H Missense 3/21 - 1
4-55564480-C-T c.368C>T p.S123F Missense 3/21 - 2
4-55564491-AAA-GAC c.379_381delinsGAC p.K127D Missense 3/21 - 1
4-55564494-G-A c.382G>A p.E128K Missense 3/21 - 1
4-55564496-A-C c.384A>C p.E128D Missense 3/21 - 1
4-55564496-A-T c.384A>T p.E128D Missense 3/21 - 1
4-55564500-A-G c.388A>G p.N130D Missense 3/21 - 1
4-55564501-A-G c.389A>G p.N130S Missense 3/21 - 1
4-55564503-G-A c.391G>A p.D131N Missense 3/21 - 1
4-55564507-C-T c.395C>T p.T132M Missense 3/21 - 1
4-55564515-C-G c.403C>G p.R135G Missense 3/21 - 1
4-55564516-G-A c.404G>A p.R135H Missense 3/21 - 1
4-55564524-CTC-ATG c.412_414delinsATG p.L138M Missense 3/21 - 1
4-55564525-T-C c.413T>C p.L138P Missense 3/21 - 1
4-55564533-C-G c.421C>G p.P141A Missense 3/21 - 1
4-55564531-AC-A c.422del p.P141Qfs*3 Frameshift 3/21 - 1
4-55564536-G-C c.424G>C p.E142Q Missense 3/21 - 1
4-55564537-A-C c.425A>C p.E142A Missense 3/21 - 1
4-55564538-A-C c.426A>C p.E142D Missense 3/21 - 1
4-55564538-A-T c.426A>T p.E142D Missense 3/21 - 1
4-55564539-G-A c.427G>A p.V143M Missense 3/21 - 1
4-55564552-C-A c.440C>A p.S147Y Missense 3/21 - 1
4-55564554-CT-GA c.442_443delinsGA p.L148D Missense 3/21 - 1
4-55564569-G-A c.457G>A p.G153R Missense 3/21 - 2
4-55564574-G-C c.462G>C p.K154N Missense 3/21 - 1
4-55564574-G-T c.462G>T p.K154N Missense 3/21 - 1
4-55564575-C-A c.463C>A p.P155T Missense 3/21 - 1
4-55564576-C-A c.464C>A p.P155H Missense 3/21 - 2
4-55564576-C-T c.464C>T p.P155L Missense 3/21 - 1
4-55564581-C-T c.469C>T p.P157S Missense 3/21 - 1
4-55564585-A-G c.473A>G p.K158R Missense 3/21 - 1
4-55564587-G-C c.475G>C p.D159H Missense 3/21 - 1
4-55564588-A-C c.476A>C p.D159A Missense 3/21 - 1
4-55564590-T-G c.478T>G p.L160V Missense 3/21 - 1
4-55564590-TT-CC c.478_479delinsCC p.L160P Missense 3/21 - 1
4-55564592-G-C c.480G>C p.L160F Missense 3/21 - 1
4-55564605-G-A c.493G>A p.D165N Missense 3/21 - 1
4-55564606-A-G c.494A>G p.D165G Missense 3/21 - 1
4-55564609-C-A c.497C>A p.P166H Missense 3/21 - 1
4-55564612-A-T c.500A>T p.K167M Missense 3/21 - 1
4-55564615-C-G c.503C>G p.A168G Missense 3/21 - 1
4-55564624-T-C c.512T>C p.M171T Missense 3/21 - 1
4-55564628-C-G c.516C>G p.I172M Missense 3/21 - 1
4-55564632-AG-GC c.520_521delinsGC p.S174A Missense 3/21 - 1
4-55564639-A-G c.527A>G p.K176R Missense 3/21 - 1
4-55564640-A-C c.528A>C p.K176N Missense 3/21 - 1
4-55564640-A-G c.528A>G p.K176= Synonymous 3/21 - 1
4-55564640-A-T c.528A>T p.K176N Missense 3/21 - 1
4-55564641-C-T c.529C>T p.R177C Missense 3/21 - 3
4-55564642-G-A c.530G>A p.R177H Missense 3/21 - 1
4-55564642-GC-AA c.530_531delinsAA p.R177Q Missense 3/21 - 1
4-55564645-C-T c.533C>T p.A178V Missense 3/21 - 1
4-55564646-C-A c.534C>A p.A178= Synonymous 3/21 - 2
4-55564646-C-G c.534C>G p.A178= Synonymous 3/21 - 2
4-55564646-C-T c.534C>T p.A178= Synonymous 3/21 - 2
4-55564653-C-T c.541C>T p.R181W Missense 3/21 - 1
4-55564654-G-A c.542G>A p.R181Q Missense 3/21 - 1
4-55564656-C-T c.544C>T p.L182F Missense 3/21 - 1
4-55564659-T-A c.547T>A p.C183S Missense 3/21 - 1
4-55564660-G-C c.548G>C p.C183S Missense 3/21 - 1
4-55564662-C-T c.550C>T p.L184= Synonymous 3/21 - 1
4-55564664-G-A c.552G>A p.L184= Synonymous 3/21 - 1
4-55564664-G-C c.552G>C p.L184= Synonymous 3/21 - 1
4-55564664-G-T c.552G>T p.L184= Synonymous 3/21 - 1
4-55564679-C-T c.567C>T p.D189= Synonymous 3/21 - 1
4-55564682-G-C c.570G>C p.Q190H Missense 3/21 - 1
4-55564682-G-T c.570G>T p.Q190H Missense 3/21 - 1
4-55564693-C-A c.581C>A p.S194* Nonsense 3/21 - 1
4-55564695-G-A c.583G>A p.V195M Missense 3/21 - 1
4-55564696-T-C c.584T>C p.V195A Missense 3/21 - 2
4-55564697-G-A c.585G>A p.V195= Synonymous 3/21 - 1
4-55564697-G-C c.585G>C p.V195= Synonymous 3/21 - 1
4-55564697-G-T c.585G>T p.V195= Synonymous 3/21 - 1
4-55564700-G-A c.588G>A p.L196= Synonymous 3/21 - 1
4-55564702-C-A c.590C>A p.S197* Nonsense 3/21 - 1
4-55564702-C-T c.590C>T p.S197L Missense 3/21 - 2
4-55564704-G-A c.592G>A p.E198K Missense 3/21 - 2
4-55564704-G-T c.592G>T p.E198* Nonsense 3/21 - 1
4-55564711-TC-AA c.599_600delinsAA p.F200* Nonsense 3/21 - 3
4-55564717-T-C c.605T>C p.L202P Missense 3/21 - 1
4-55564722-AG-A c.610del p.V204* Frameshift 3/21 - 1
4-55564723-T-C c.611T>C p.V204A Missense 3/21 - 1
4-55564731-G-T c.619G>T p.A207S Missense 3/21 - 1
4-55564817-T-C c.619+86T>C - IntronicSNV - 3/20 1
4-55564818-A-T c.619+87A>T - IntronicSNV - 3/20 1
4-55565796-C-T c.620C>T p.A207V Missense 4/21 - 2
4-55565802-A-T c.626A>T p.K209I Missense 4/21 - 2
4-55565816-G-C c.640G>C p.V214L Missense 4/21 - 1
4-55565816-G-T c.640G>T p.V214L Missense 4/21 - 1
4-55565819-TC-AA c.643_644delinsAA p.S215N Missense 4/21 - 1
4-55565814-TTGTGTC-T c.645_650del p.V216_S217del InFrameDeletion 4/21 - 1
4-55565832-C-T c.656C>T p.A219V Missense 4/21 - 2
4-55565839-T-C c.663T>C p.Y221= Synonymous 4/21 - 1
4-55565843-C-A c.667C>A p.L223I Missense 4/21 - 1
4-55565843-CT-GC c.667_668delinsGC p.L223A Missense 4/21 - 1
4-55565849-G-A c.673G>A p.E225K Missense 4/21 - 1
4-55565852-G-C c.676G>C p.G226R Missense 4/21 - 1
4-55565852-G-T c.676G>T p.G226W Missense 4/21 - 1
4-55565853-G-C c.677G>C p.G226A Missense 4/21 - 2
4-55565858-G-A c.682G>A p.E228K Missense 4/21 - 3
4-55565862-T-TTGATGTCGCG c.686_687insTGATGTCGCG p.T230Dfs*14 Frameshift 4/21 - 1
4-55565871-C-T c.695C>T p.T232M Missense 4/21 - 1
4-55565874-G-C c.698G>C p.C233S Missense 4/21 - 1
4-55565882-A-T c.706A>T p.K236* Nonsense 4/21 - 1
4-55565888-G-C c.712G>C p.V238L Missense 4/21 - 1
4-55565888-G-T c.712G>T p.V238L Missense 4/21 - 1
4-55565891-T-C c.715T>C p.S239P Missense 4/21 - 1
4-55565891-TC-GA c.715_716inv p.S239D Missense 4/21 - 2
4-55565892-C-G c.716C>G p.S239C Missense 4/21 - 1
4-55565898-C-T c.722C>T p.S241F Missense 4/21 - 1
4-55565907-C-A c.731C>A p.S244* Nonsense 4/21 - 1
4-55565909-AC-GG c.733_734delinsGG p.T245G Missense 4/21 - 1
4-55565909-A-G c.733A>G p.T245A Missense 4/21 - 1
4-55565910-C-T c.734C>T p.T245M Missense 4/21 - 3
4-55565913-G-A c.737G>A p.W246* Nonsense 4/21 - 2
4-55565914-G-A c.738G>A p.W246* Nonsense 4/21 - 2
4-55565916-A-G c.740A>G p.K247R Missense 4/21 - 1
4-55565918-AGA-TGG c.742_744delinsTGG p.R248W Missense 4/21 - 1
4-55565918-AGA-TGT c.742_744delinsTGT p.R248C Missense 4/21 - 2
4-55565918-AG-CA c.742_743delinsCA p.R248Q Missense 4/21 - 2
4-55565921-G-T c.745G>T p.E249* Nonsense 4/21 - 1
4-55565926-C-A c.750C>A p.N250K Missense 4/21 - 1
4-55565926-C-G c.750C>G p.N250K Missense 4/21 - 1
4-55565927-A-T c.751A>T p.S251C Missense 4/21 - 2
4-55565928-G-T c.752G>T p.S251I Missense 4/21 - 1
4-55565931-A-G c.755A>G p.Q252R Missense 4/21 - 1
4-55565932-G-C c.756G>C p.Q252H Missense 4/21 - 17
4-55565932-G-T c.756G>T p.Q252H Missense 4/21 - 17
4-55569869-C-T c.757-21C>T - IntronicSNV - 4/20 1
4-55569881-A-G c.757-9A>G - IntronicSNV - 4/20 1
4-55569883-C-G c.757-7C>G - IntronicSNV - 4/20 1
4-55569890-AC-TT c.757_758delinsTT p.T253F Missense 5/21 - 1
4-55569897-T-A c.764T>A p.L255Q Missense 5/21 - 1
4-55569900-A-T c.767A>T p.Q256L Missense 5/21 - 1
4-55569902-G-C c.769G>C p.E257Q Missense 5/21 - 1
4-55569904-G-C c.771G>C p.E257D Missense 5/21 - 1
4-55569904-G-T c.771G>T p.E257D Missense 5/21 - 1
4-55569912-A-C c.779A>C p.N260T Missense 5/21 - 1
4-55569922-T-A c.789T>A p.H263Q Missense 5/21 - 1
4-55569922-T-G c.789T>G p.H263Q Missense 5/21 - 2
4-55569926-G-A c.793G>A p.G265S Missense 5/21 - 1
4-55569926-G-C c.793G>C p.G265R Missense 5/21 - 1
4-55569926-G-T c.793G>T p.G265C Missense 5/21 - 1
4-55569935-A-T c.802A>T p.N268Y Missense 5/21 - 1
4-55569939-A-G c.806A>G p.Y269C Missense 5/21 - 2
4-55569941-G-A c.808G>A p.E270K Missense 5/21 - 1
4-55569945-G-A c.812G>A p.R271H Missense 5/21 - 3
4-55569951-C-G c.818C>G p.A273G Missense 5/21 - 1
4-55569954-C-T c.821C>T p.T274M Missense 5/21 - 2
4-55569956-TT-CC c.823_824delinsCC p.L275P Missense 5/21 - 1
4-55569967-T-C c.834T>C p.S278= Synonymous 5/21 - 1
4-55569969-C-A c.836C>A p.S279* Nonsense 5/21 - 1
4-55569972-C-T c.839C>T p.A280V Missense 5/21 - 3
4-55569974-AG-CA c.841_842delinsCA p.R281Q Missense 5/21 - 2
4-55569976-A-C c.843A>C p.R281S Missense 5/21 - 1
4-55569983-G-C c.850G>C p.D284H Missense 5/21 - 1
4-55569989-G-A c.856G>A p.G286R Missense 5/21 - 1
4-55569989-G-C c.856G>C p.G286R Missense 5/21 - 1
4-55569992-G-A c.859G>A p.V287M Missense 5/21 - 2
4-55569992-G-T c.859G>T p.V287L Missense 5/21 - 1
4-55570006-T-C c.873T>C p.Y291= Synonymous 5/21 - 1
4-55570008-C-T c.875C>T p.A292V Missense 5/21 - 1
4-55570010-A-AGCT c.877_878insGCT p.N293delinsSY MultiAAMissense 5/21 - 1
4-55570011-A-G c.878A>G p.N293S Missense 5/21 - 4
4-55570013-A-T c.880A>T p.N294Y Missense 5/21 - 1
4-55570017-C-T c.884C>T p.T295I Missense 5/21 - 1
4-55570023-G-A c.890G>A p.G297E Missense 5/21 - 1
4-55570025-T-C c.892T>C p.S298P Missense 5/21 - 1
4-55570026-C-T c.893C>T p.S298L Missense 5/21 - 1
4-55570028-G-A c.895G>A p.A299T Missense 5/21 - 2
4-55570029-C-T c.896C>T p.A299V Missense 5/21 - 1
4-55570043-A-G c.910A>G p.T304A Missense 5/21 - 4
4-55570044-C-T c.911C>T p.T304I Missense 5/21 - 1
4-55570048-G-C c.915G>C p.L305F Missense 5/21 - 1
4-55570048-G-T c.915G>T p.L305F Missense 5/21 - 1
4-55570047-TGGAAGTA-T c.916_922del p.E306* Frameshift 5/21 - 1
4-55570055-G-T c.922G>T p.V308L Missense 5/21 - 1
4-55571441-C-G c.925+1383C>G - IntronicSNV - 5/20 2
4-55571441-C-T c.925+1383C>T - IntronicSNV - 5/20 2
4-55573264-A-T c.926A>T p.D309V Missense 6/21 - 1
4-55573266-A-G c.928A>G p.K310E Missense 6/21 - 1
4-55573283-C-G c.945C>G p.I315M Missense 6/21 - 2
4-55573295-A-G c.957A>G p.I319M Missense 6/21 - 1
4-55573296-A-C c.958A>C p.N320H Missense 6/21 - 1
4-55573305-G-A c.967G>A p.V323I Missense 6/21 - 1
4-55573314-A-G c.976A>G p.N326D Missense 6/21 - 2
4-55573315-A-G c.977A>G p.N326S Missense 6/21 - 1
4-55573316-C-G c.978C>G p.N326K Missense 6/21 - 2
4-55573317-G-A c.979G>A p.D327N Missense 6/21 - 2
4-55573321-G-C c.983G>C p.G328A Missense 6/21 - 1
4-55573323-G-A c.985G>A p.E329K Missense 6/21 - 1
4-55573326-A-C c.988A>C p.N330H Missense 6/21 - 1
4-55573326-A-G c.988A>G p.N330D Missense 6/21 - 1
4-55573327-A-G c.989A>G p.N330S Missense 6/21 - 1
4-55573339-TT-AG c.1001_1002delinsAG p.I334K Missense 6/21 - 1
4-55573350-G-A c.1012G>A p.E338K Missense 6/21 - 1
4-55573354-C-A c.1016C>A p.A339E Missense 6/21 - 1
4-55573360-C-T c.1022C>T p.P341L Missense 6/21 - 1
4-55573375-A-T c.1037A>T p.Q346L Missense 6/21 - 1
4-55573378-A-G c.1040A>G p.Q347R Missense 6/21 - 1
4-55573379-G-T c.1041G>T p.Q347H Missense 6/21 - 1
4-55573382-G-A c.1044G>A p.W348* Nonsense 6/21 - 2
4-55573389-AT-GA c.1051_1052delinsGA p.M351E Missense 6/21 - 1
4-55573389-AT-GC c.1051_1052delinsGC p.M351A Missense 6/21 - 1
4-55573390-T-A c.1052T>A p.M351K Missense 6/21 - 1
4-55573390-T-C c.1052T>C p.M351T Missense 6/21 - 17
4-55573390-T-TG c.1053dup p.N352Efs*6 Frameshift 6/21 - 1
4-55573391-G-A c.1053G>A p.M351I Missense 6/21 - 3
4-55573391-G-C c.1053G>C p.M351I Missense 6/21 - 1
4-55573391-G-T c.1053G>T p.M351I Missense 6/21 - 1
4-55573393-A-G c.1055A>G p.N352S Missense 6/21 - 1
4-55573398-AC-GG c.1060_1061delinsGG p.T354G Missense 6/21 - 1
4-55573401-T-C c.1063T>C p.F355L Missense 6/21 - 1
4-55573403-C-A c.1065C>A p.F355L Missense 6/21 - 1
4-55573403-C-G c.1065C>G p.F355L Missense 6/21 - 1
4-55573404-AC-GA c.1066_1067delinsGA p.T356D Missense 6/21 - 1
4-55573404-A-G c.1066A>G p.T356A Missense 6/21 - 1
4-55573413-T-A c.1075T>A p.W359R Missense 6/21 - 1
4-55573416-G-C c.1078G>C p.E360Q Missense 6/21 - 1
4-55573416-G-T c.1078G>T p.E360* Nonsense 6/21 - 1
4-55573419-G-A c.1081G>A p.D361N Missense 6/21 - 2
4-55573419-G-C c.1081G>C p.D361H Missense 6/21 - 1
4-55573421-T-A c.1083T>A p.D361E Missense 6/21 - 1
4-55573421-T-G c.1083T>G p.D361E Missense 6/21 - 1
4-55573423-A-G c.1085A>G p.Y362C Missense 6/21 - 1
4-55573423-A-T c.1085A>T p.Y362F Missense 6/21 - 1
4-55573424-T-A c.1086T>A p.Y362* Nonsense 6/21 - 1
4-55573425-C-T c.1087C>T p.P363S Missense 6/21 - 2
4-55573426-C-A c.1088C>A p.P363H Missense 6/21 - 1
4-55573431-T-A c.1093T>A p.S365T Missense 6/21 - 1
4-55573436-G-C c.1098G>C p.E366D Missense 6/21 - 1
4-55573436-G-T c.1098G>T p.E366D Missense 6/21 - 1
4-55573447-A-G c.1109A>G p.N370S Missense 6/21 - 2
4-55573693-G-A c.1115+240G>A - IntronicSNV - 6/20 1
4-55575592-A-G c.1118A>G p.Y373C Missense 7/21 - 4
4-55575594-G-A c.1120G>A p.V374I Missense 7/21 - 1
4-55575595-T-TA c.1123dup p.S375Kfs*2 Frameshift 7/21 - 1
4-55575603-C-A c.1129C>A p.L377I Missense 7/21 - 1
4-55575613-C-A c.1139C>A p.T380K Missense 7/21 - 1
4-55575615-AG-GC c.1141_1142delinsGC p.R381A Missense 7/21 - 1
4-55575625-G-A c.1151G>A p.G384D Missense 7/21 - 1
4-55575630-G-A c.1156G>A p.E386K Missense 7/21 - 2
4-55575636-G-C c.1162G>C p.G388R Missense 7/21 - 1
4-55575661-A-C c.1187A>C p.N396T Missense 7/21 - 1
4-55575664-C-T c.1190C>T p.S397F Missense 7/21 - 1
4-55575669-G-A c.1195G>A p.V399I Missense 7/21 - 4
4-55575669-G-C c.1195G>C p.V399L Missense 7/21 - 1
4-55575684-G-A c.1210G>A p.A404T Missense 7/21 - 1
4-55575702-A-T c.1228A>T p.N410Y Missense 7/21 - 1
4-55581266-A-C c.1231+5561A>C - IntronicSNV - 7/20 1
4-55589753-A-T c.1235A>T p.K412I Missense 8/21 - 1
4-55589754-A-G c.1236A>G p.K412= Synonymous 8/21 - 1
4-55589755-C-T c.1237C>T p.P413S Missense 8/21 - 2
4-55589758-G-T c.1240G>T p.E414* Nonsense 8/21 - 1
4-55589759-A-C c.1241A>C p.E414A Missense 8/21 - 1
4-55589766-GACTTACGAC-TTGG c.1248_1257delinsTTGG p.T417_D419delinsW MultiAAMissense 8/21 - 1
4-55589766-GACTTACGA-TTTCCG c.1248_1256delinsTTTCCG p.T417_D419delinsFR MultiAAMissense 8/21 - 1
4-55589766-TGACTTA-T c.1248_1253del p.T417_Y418del InFrameDeletion 8/21 - 1
4-55589767-AC-TA c.1249_1250delinsTA p.T417Y Missense 8/21 - 1
4-55589767-ACTTACGACA-GGATGGAACT c.1249_1258delinsGGATGGAACT p.T417_R420delinsGWNW MultiAAMissense 8/21 - 1
4-55589768-ACTTACG-A c.1250_1255del p.T417_D419delinsN MultiAAMissense 8/21 - 1
4-55589768-ACTTACGAC-A c.1250_1257del p.T417Kfs*28 Frameshift 8/21 - 1
4-55589768-C-T c.1250C>T p.T417I Missense 8/21 - 4
4-55589768-CTTACGACA-AACCTC c.1250_1258delinsAACCTC p.T417_D419delinsKP MultiAAMissense 8/21 - 1
4-55589768-CTTACGA-T c.1250_1256delinsT p.T417_D419delinsI MultiAAMissense 8/21 - 1
4-55589769-T-A c.1251T>A p.T417= Synonymous 8/21 - 1
4-55589769-T-C c.1251T>C p.T417= Synonymous 8/21 - 1
4-55589769-T-G c.1251T>G p.T417= Synonymous 8/21 - 1
4-55589769-TTACGAC-AACA c.1251_1257delinsAACA p.Y418_D419delinsT MultiAAMissense 8/21 - 1
4-55589769-TTACGACA-CTCCT c.1251_1258delinsCTCCT p.Y418_R420delinsSW MultiAAMissense 8/21 - 1
4-55589769-TTACGA-GGG c.1251_1256delinsGGG p.Y418_D419delinsG MultiAAMissense 8/21 - 1
4-55589770-T-A c.1252T>A p.Y418N Missense 8/21 - 1
4-55589770-TTACGAC-T c.1252_1257del p.Y418_D419del InFrameDeletion 8/21 - 1
4-55589770-TTAC-T c.1252_1254del p.Y418del InFrameDeletion 8/21 - 2
4-55589771-AC-TTTTTTGG c.1253_1254delinsTTTTTTGG p.Y418delinsFFW MultiAAMissense 8/21 - 1
4-55589771-A-C c.1253A>C p.Y418S Missense 8/21 - 1
4-55589771-ACGACA-CCG c.1253_1258delinsCCG p.Y418_R420delinsSG MultiAAMissense 8/21 - 1
4-55589771-A-G c.1253A>G p.Y418C Missense 8/21 - 1
4-55589771-A-ACT c.1254_1255insTC p.D419Sfs*5 Frameshift 8/21 - 1
4-55589771-A-ACTTCCT c.1254_1255insTTCCTC p.Y418_D419insFL InFrameInsertion 8/21 - 1
4-55589772-C-A c.1254C>A p.Y418* Nonsense 8/21 - 1
4-55589772-C-CT c.1254_1255insT p.D419* Nonsense 8/21 - 1
4-55589772-C-CTTTCTT c.1254_1255insTTTCTT p.Y418_D419insFL InFrameInsertion 8/21 - 1
4-55589772-C-T c.1254C>T p.Y418= Synonymous 8/21 - 1
4-55589770-TACG-T c.1255_1257del p.D419del InFrameDeletion 8/21 - 22
4-55589773-CGACAGG-C c.1255_1260del p.D419_R420del InFrameDeletion 8/21 - 1
4-55589773-G-A c.1255G>A p.D419N Missense 8/21 - 1
4-55589773-GAC-AGGGGT c.1255_1257delinsAGGGGT p.D419delinsRG MultiAAMissense 8/21 - 1
4-55589773-GA-TT c.1255_1256delinsTT p.D419F Missense 8/21 - 1
4-55589773-G-C c.1255G>C p.D419H Missense 8/21 - 4
4-55589773-G-T c.1255G>T p.D419Y Missense 8/21 - 3
4-55589774-AC-CAGGT c.1256_1257delinsCAGGT p.D419delinsAG MultiAAMissense 8/21 - 1
4-55589774-A-C c.1256A>C p.D419A Missense 8/21 - 3
4-55589774-AC-GTCTA c.1256_1257delinsGTCTA p.D419delinsGL MultiAAMissense 8/21 - 1
4-55589774-A-G c.1256A>G p.D419G Missense 8/21 - 2
4-55589774-A-T c.1256A>T p.D419V Missense 8/21 - 2
4-55589776-AG-CA c.1258_1259delinsCA p.R420Q Missense 8/21 - 1
4-55589776-AG-GA c.1258_1259delinsGA p.R420E Missense 8/21 - 1
4-55589776-A-GGTT c.1258delinsGGTT p.R420delinsGW MultiAAMissense 8/21 - 1
4-55589776-AG-TGGAGCAA c.1258_1259delinsTGGAGCAA p.R420delinsWSK MultiAAMissense 8/21 - 1
4-55589776-CAGG-C c.1258_1260del p.R420del InFrameDeletion 8/21 - 1
4-55589778-G-C c.1260G>C p.R420S Missense 8/21 - 1
4-55589779-CTC-ACAAGGGTATAT c.1261_1263delinsACAAGGGTATAT p.L421delinsTRVY MultiAAMissense 8/21 - 1
4-55589779-GCTC-G c.1261_1263del p.L421del InFrameDeletion 8/21 - 1
4-55589782-G-A c.1264G>A p.V422M Missense 8/21 - 3
4-55589782-GTG-AGCAGGATCCTT c.1264_1266delinsAGCAGGATCCTT p.V422delinsSRIL MultiAAMissense 8/21 - 1
4-55589788-GG-AC c.1270_1271delinsAC p.G424T Missense 8/21 - 1
4-55589791-AT-GC c.1273_1274delinsGC p.M425A Missense 8/21 - 1
4-55589792-T-A c.1274T>A p.M425K Missense 8/21 - 1
4-55589793-G-A c.1275G>A p.M425I Missense 8/21 - 1
4-55589797-C-T c.1279C>T p.Q427* Nonsense 8/21 - 1
4-55589806-G-A c.1288G>A p.A430T Missense 8/21 - 2
4-55589810-C-A c.1292C>A p.A431E Missense 8/21 - 1
4-55589810-C-T c.1292C>T p.A431V Missense 8/21 - 1
4-55589813-G-A c.1295G>A p.G432E Missense 8/21 - 2
4-55589818-C-T c.1300C>T p.P434S Missense 8/21 - 1
4-55589819-C-G c.1301C>G p.P434R Missense 8/21 - 1
4-55589821-G-A c.1303G>A p.E435K Missense 8/21 - 1
4-55589827-A-G c.1309A>G p.T437A Missense 8/21 - 1
4-55589830-A-C c.1312A>C p.I438L Missense 8/21 - 2
4-55589830-A-G c.1312A>G p.I438V Missense 8/21 - 1
4-55589830-A-T c.1312A>T p.I438L Missense 8/21 - 2
4-55589833-G-C c.1315G>C p.D439H Missense 8/21 - 2
4-55589836-T-G c.1318T>G p.W440G Missense 8/21 - 1
4-55589837-G-A c.1319G>A p.W440* Nonsense 8/21 - 1
4-55589838-G-A c.1320G>A p.W440* Nonsense 8/21 - 3
4-55589842-TT-GC c.1324_1325delinsGC p.F442A Missense 8/21 - 3
4-55589846-G-A c.1328G>A p.C443Y Missense 8/21 - 5
4-55589848-C-T c.1330C>T p.P444S Missense 8/21 - 1
4-55589852-G-A c.1334G>A p.G445E Missense 8/21 - 2
4-55589857-G-A c.1339G>A p.E447K Missense 8/21 - 1
4-55589861-A-G c.1343A>G p.Q448R Missense 8/21 - 1
4-55589864-G-GATGCTCTGCTTCTGTACTGCCA c.1346_1346+1insATGCTCTGCTTCTGTACTGCCA p.V457Mfs*32 SpliceDonorInsertion - - 1
4-55592024-TG-GC c.1348_1349delinsGC p.C450A Missense 9/21 - 1
4-55592028-C-G c.1352C>G p.S451C Missense 9/21 - 7
4-55592039-C-A c.1363C>A p.L455M Missense 9/21 - 1
4-55592039-CT-AA c.1363_1364delinsAA p.L455K Missense 9/21 - 1
4-55592039-CT-AC c.1363_1364delinsAC p.L455T Missense 9/21 - 1
4-55592039-CTG-ATC c.1363_1365delinsATC p.L455I Missense 9/21 - 1
4-55592039-CTG-GAC c.1363_1365delinsGAC p.L455D Missense 9/21 - 1
4-55592039-CT-TC c.1363_1364delinsTC p.L455S Missense 9/21 - 1
4-55592039-CT-TG c.1363_1364delinsTG p.L455W Missense 9/21 - 1
4-55592042-C-T c.1366C>T p.P456S Missense 9/21 - 1
4-55592043-C-A c.1367C>A p.P456Q Missense 9/21 - 1
4-55592048-G-A c.1372G>A p.D458N Missense 9/21 - 2
4-55592059-A-G c.1383A>G p.T461= Synonymous 9/21 - 1
4-55592064-A-G c.1388A>G p.N463S Missense 9/21 - 4
4-55592065-C-T c.1389C>T p.N463= Synonymous 9/21 - 1
4-55592067-C-T c.1391C>T p.S464L Missense 9/21 - 3
4-55592072-G-A c.1396G>A p.G466R Missense 9/21 - 1
4-55592072-G-C c.1396G>C p.G466R Missense 9/21 - 1
4-55592073-G-C c.1397G>C p.G466A Missense 9/21 - 1
4-55592075-C-G c.1399C>G p.P467A Missense 9/21 - 1
4-55592075-C-T c.1399C>T p.P467S Missense 9/21 - 2
4-55592076-C-A c.1400C>A p.P467Q Missense 9/21 - 2
4-55592079-C-T c.1403C>T p.P468L Missense 9/21 - 2
4-55592081-T-C c.1405T>C p.F469L Missense 9/21 - 3
4-55592081-TT-GC c.1405_1406delinsGC p.F469A Missense 9/21 - 1
4-55592083-T-A c.1407T>A p.F469L Missense 9/21 - 3
4-55592083-T-G c.1407T>G p.F469L Missense 9/21 - 3
4-55592082-T-C c.1406T>C p.F469S Missense 9/21 - 2
4-55592093-G-A c.1417G>A p.V473M Missense 9/21 - 1
4-55592096-G-A c.1420G>A p.V474I Missense 9/21 - 1
4-55592097-T-C c.1421T>C p.V474A Missense 9/21 - 1
4-55592102-A-G c.1426A>G p.S476G Missense 9/21 - 1
4-55592102-A-T c.1426A>T p.S476C Missense 9/21 - 1
4-55592103-G-A c.1427G>A p.S476N Missense 9/21 - 1
4-55592103-G-T c.1427G>T p.S476I Missense 9/21 - 15
4-55592115-C-T c.1439C>T p.S480F Missense 9/21 - 1
4-55592120-G-A c.1444G>A p.A482T Missense 9/21 - 2
4-55592127-A-G c.1451A>G p.K484R Missense 9/21 - 1
4-55592132-A-G c.1456A>G p.N486D Missense 9/21 - 2
4-55592133-A-C c.1457A>C p.N486T Missense 9/21 - 2
4-55592133-A-T c.1457A>T p.N486I Missense 9/21 - 1
4-55592136-G-A c.1460G>A p.G487D Missense 9/21 - 2
4-55592139-C-T c.1463C>T p.T488M Missense 9/21 - 1
4-55592142-T-C c.1466T>C p.V489A Missense 9/21 - 1
4-55592141-GTTGAATGTAAGGCTTACAACGATGTGGGCAAGACTTCTGCCTATT-G c.1468_1512del p.E490_F504del InFrameDeletion 9/21 - 1
4-55592144-G-A c.1468G>A p.E490K Missense 9/21 - 2
4-55592144-GA-TC c.1468_1469inv p.E490S Missense 9/21 - 1
4-55592144-G-C c.1468G>C p.E490Q Missense 9/21 - 1
4-55592144-G-T c.1468G>T p.E490* Nonsense 9/21 - 1
4-55592146-A-C c.1470A>C p.E490D Missense 9/21 - 2
4-55592146-A-T c.1470A>T p.E490D Missense 9/21 - 3
4-55592148-G-T c.1472G>T p.C491F Missense 9/21 - 1
4-55592151-A-G c.1475A>G p.K492R Missense 9/21 - 1
4-55592153-G-A c.1477G>A p.A493T Missense 9/21 - 1
4-55592154-C-A c.1478C>A p.A493D Missense 9/21 - 1
4-55592157-A-G c.1481A>G p.Y494C Missense 9/21 - 2
4-55592159-A-G c.1483A>G p.N495D Missense 9/21 - 1
4-55592160-A-G c.1484A>G p.N495S Missense 9/21 - 1
4-55592161-C-A c.1485C>A p.N495K Missense 9/21 - 1
4-55592161-C-G c.1485C>G p.N495K Missense 9/21 - 1
4-55592162-G-A c.1486G>A p.D496N Missense 9/21 - 4
4-55592163-A-T c.1487A>T p.D496V Missense 9/21 - 1
4-55592168-G-A c.1492G>A p.G498S Missense 9/21 - 1
4-55592169-G-A c.1493G>A p.G498D Missense 9/21 - 2
4-55592169-G-T c.1493G>T p.G498V Missense 9/21 - 1
4-55592172-A-G c.1496A>G p.K499R Missense 9/21 - 1
4-55592174-AC-GA c.1498_1499delinsGA p.T500D Missense 9/21 - 1
4-55592174-ACT-TGG c.1498_1500delinsTGG p.T500W Missense 9/21 - 1
4-55592174-A-T c.1498A>T p.T500S Missense 9/21 - 2
4-55592175-C-G c.1499C>G p.T500S Missense 9/21 - 1
4-55592175-C-T c.1499C>T p.T500I Missense 9/21 - 1
4-55592175-CT-AG c.1499_1500inv p.T500K Missense 9/21 - 1
4-55592176-T-A c.1500T>A p.T500= Synonymous 9/21 - 1
4-55592176-T-C c.1500T>C p.T500= Synonymous 9/21 - 1
4-55592176-T-G c.1500T>G p.T500= Synonymous 9/21 - 1
4-55592176-T-TAGCGCA c.1500_1501insAGCGCA p.S501_A502dup InFrameInsertion 9/21 - 1
4-55592178-C-T c.1502C>T p.S501F Missense 9/21 - 1
4-55592180-G-A c.1504G>A p.A502T Missense 9/21 - 1
4-55592182-C-A c.1506C>A p.A502= Synonymous 9/21 - 1
4-55592182-C-CAGCGCA c.1506_1507insAGCGCA p.S501_A502dup InFrameInsertion 9/21 - 1
4-55592182-C-CCTTGCA c.1506_1507insCTTGCA p.A502_Y503insLA InFrameInsertion 9/21 - 1
4-55592182-C-G c.1506C>G p.A502= Synonymous 9/21 - 1
4-55592182-C-T c.1506C>T p.A502= Synonymous 9/21 - 1
4-55592178-C-CTGCCTT c.1507_1508insTTGCCT p.A502_Y503insFA InFrameInsertion 9/21 - 2
4-55592182-C-CTTTGCA c.1507_1508insTTGCAT p.A502_Y503insFA InFrameInsertion 9/21 - 1
4-55592183-TA-GC c.1507_1508delinsGC p.Y503A Missense 9/21 - 1
4-55592183-T-C c.1507T>C p.Y503H Missense 9/21 - 1
4-55592182-CTAT-C c.1508_1510del p.Y503del InFrameDeletion 9/21 - 2
4-55592182-C-CTATACA c.1509_1510insACATAT p.Y503_F504insTY InFrameInsertion 9/21 - 1
4-55592182-C-CTATGCA c.1509_1510insGCATAT p.A502_Y503dup InFrameInsertion 9/21 - 6
4-55592185-T-TTATGCA c.1510_1511insATGCAT p.Y503_F504insYA InFrameInsertion 9/21 - 1
4-55592186-T-A c.1510T>A p.F504I Missense 9/21 - 1
4-55592186-T-C c.1510T>C p.F504L Missense 9/21 - 1
4-55592186-TT-GC c.1510_1511delinsGC p.F504A Missense 9/21 - 1
4-55592188-T-A c.1512T>A p.F504L Missense 9/21 - 1
4-55592188-T-G c.1512T>G p.F504L Missense 9/21 - 1
4-55592189-AAC-CTTAAGTTTAAGACA c.1513_1515delinsCTTAAGTTTAAGACA p.N505delinsLKFKT MultiAAMissense 9/21 - 1
4-55592189-AA-GT c.1513_1514delinsGT p.N505V Missense 9/21 - 1
4-55592189-A-C c.1513A>C p.N505H Missense 9/21 - 1
4-55592189-A-G c.1513A>G p.N505D Missense 9/21 - 2
4-55592189-TAAC-T c.1513_1515del p.N505del InFrameDeletion 9/21 - 1
4-55592190-AC-GG c.1514_1515delinsGG p.N505R Missense 9/21 - 1
4-55592190-A-T c.1514A>T p.N505I Missense 9/21 - 6
4-55592192-T-C c.1516T>C p.F506L Missense 9/21 - 3
4-55592194-T-A c.1518T>A p.F506L Missense 9/21 - 2
4-55592194-T-G c.1518T>G p.F506L Missense 9/21 - 2
4-55592193-T-C c.1517T>C p.F506S Missense 9/21 - 1
4-55592195-G-C c.1519G>C p.A507P Missense 9/21 - 2
4-55592197-A-T c.1521A>T p.A507= Synonymous 9/21 - 1
4-55592198-ATTT-A c.1522_1524del p.F508del InFrameDeletion 9/21 - 2
4-55592200-T-C c.1524T>C p.F508= Synonymous 9/21 - 1
4-55592202-A-G c.1526A>G p.K509R Missense 9/21 - 2
4-55592202-A-T c.1526A>T p.K509I Missense 9/21 - 50
4-55592205-G-C c.1529G>C p.G510A Missense 9/21 - 1
4-55592208-A-G c.1532A>G p.N511S Missense 9/21 - 1
4-55592210-A-G c.1534A>G p.N512D Missense 9/21 - 2
4-55592211-A-G c.1535A>G p.N512S Missense 9/21 - 1
4-55592213-AA-GC c.1537_1538delinsGC p.K513A Missense 9/21 - 1
4-55592216-G-T c.1540G>T p.E514* Nonsense 9/21 - 1
4-55593392-C-T c.1549C>T p.H517Y Missense 10/21 - 2
4-55593407-T-C c.1564T>C p.F522L Missense 10/21 - 1
4-55593409-C-A c.1566C>A p.F522L Missense 10/21 - 1
4-55593409-C-G c.1566C>G p.F522L Missense 10/21 - 1
4-55593408-T-G c.1565T>G p.F522C Missense 10/21 - 54
4-55593411-C-A c.1568C>A p.T523N Missense 10/21 - 1
4-55593413-C-G c.1570C>G p.P524A Missense 10/21 - 1
4-55593422-A-T c.1579A>T p.I527F Missense 10/21 - 1
4-55593431-G-A c.1588G>A p.V530I Missense 10/21 - 25
4-55593434-A-G c.1591A>G p.I531V Missense 10/21 - 1
4-55593436-TC-T c.1593del p.I531Mfs*2 Frameshift 10/21 - 1
4-55593437-G-A c.1594G>A p.V532I Missense 10/21 - 5
4-55593441-C-A c.1598C>A p.A533D Missense 10/21 - 18
4-55593443-G-T c.1600G>T p.G534C Missense 10/21 - 2
4-55593444-G-T c.1601G>T p.G534V Missense 10/21 - 1
4-55593447-T-C c.1604T>C p.M535T Missense 10/21 - 1
4-55593448-G-A c.1605G>A p.M535I Missense 10/21 - 1
4-55593448-G-C c.1605G>C p.M535I Missense 10/21 - 1
4-55593448-G-T c.1605G>T p.M535I Missense 10/21 - 1
4-55593449-A-C c.1606A>C p.M536L Missense 10/21 - 1
4-55593449-A-T c.1606A>T p.M536L Missense 10/21 - 1
4-55593451-G-A c.1608G>A p.M536I Missense 10/21 - 2
4-55593451-G-C c.1608G>C p.M536I Missense 10/21 - 2
4-55593451-G-T c.1608G>T p.M536I Missense 10/21 - 2
4-55593455-A-G c.1612A>G p.I538V Missense 10/21 - 1
4-55593461-G-C c.1618G>C p.V540L Missense 10/21 - 3
4-55593461-G-T c.1618G>T p.V540L Missense 10/21 - 2
4-55593463-G-A c.1620G>A p.V540= Synonymous 10/21 - 1
4-55593463-G-C c.1620G>C p.V540= Synonymous 10/21 - 1
4-55593463-G-T c.1620G>T p.V540= Synonymous 10/21 - 1
4-55593464-A-C c.1621A>C p.M541L Missense 10/21 - 127
4-55593464-A-G c.1621A>G p.M541V Missense 10/21 - 6
4-55593464-A-T c.1621A>T p.M541L Missense 10/21 - 52
4-55593465-T-C c.1622T>C p.M541T Missense 10/21 - 1
4-55593466-G-A c.1623G>A p.M541I Missense 10/21 - 1
4-55593466-G-C c.1623G>C p.M541I Missense 10/21 - 1
4-55593466-G-T c.1623G>T p.M541I Missense 10/21 - 1
4-55593467-A-T c.1624A>T p.I542F Missense 10/21 - 1
4-55593476-T-C c.1633T>C p.Y545H Missense 10/21 - 1
4-55593477-A-G c.1634A>G p.Y545C Missense 10/21 - 1
4-55593477-A-T c.1634A>T p.Y545F Missense 10/21 - 1
4-55593478-C-A c.1635C>A p.Y545* Nonsense 10/21 - 1
4-55593479-A-G c.1636A>G p.K546E Missense 10/21 - 1
4-55593481-A-G c.1638A>G p.K546= Synonymous 10/21 - 15
4-55593483-A-G c.1640A>G p.Y547C Missense 10/21 - 1
4-55593486-TA-GG c.1643_1644delinsGG p.L548W Missense 10/21 - 1
4-55593487-A-C c.1644A>C p.L548F Missense 10/21 - 1
4-55593487-A-T c.1644A>T p.L548F Missense 10/21 - 1
4-55593516-A-G c.1647+26A>G - IntronicSNV - 10/20 1
4-55593525-T-C c.1647+35T>C - IntronicSNV - 10/20 1
4-55593577-CACAGAAACCCATGTATGAAGT-C c.1648_1668del p.K550_Q556del InFrameDeletion 11/21 - 1
4-55593579-CAGAAACCCATGTATGAAGTACAGTGGA-C c.1648_1674del p.K550_K558del InFrameDeletion 11/21 - 10
4-55593580-AGAAACCCAT-A c.1648_1656del p.K550_M552del InFrameDeletion 11/21 - 2
4-55593582-AAACCCATGTATGAAG-T c.1648_1663delinsT p.K550_V555delinsL SpliceAcceptorBlockSubstitution 11/21 - 1
4-55593582-AAACCCATGTATGAAGTACAGT-CAAC c.1648_1669delinsCAAC p.K550_W557delinsQR SpliceAcceptorBlockSubstitution 11/21 - 1
4-55593582-AAACCCATGTATGAAGTACAGTG-TTTCT c.1648_1670delinsTTTCT p.K550_W557delinsFL SpliceAcceptorBlockSubstitution 11/21 - 1
4-55593582-AAACCCATGTATGAAGT-C c.1648_1664delinsC p.K550Hfs*9 SpliceAcceptorBlockSubstitution 11/21 - 1
4-55593582-AA-CT c.1648_1649delinsCT p.K550L Missense 11/21 - 2
4-55593582-A-T c.1648A>T p.K550* Nonsense 11/21 - 1
4-55593582-GAAACCCATGTATGAA-G c.1648_1662del p.K550_E554del InFrameDeletion 11/21 - 2
4-55593582-GAAACCCATGTATGAAGTACAGTGGAAGGTTGTTGAGGAGATAAATGGAAACAATTATGT-G c.1648_1706del p.K550Lfs*10 InFrameDeletion 11/21 - 1
4-55593582-GAAACCCATGTATGAAGTA-G c.1648_1665del p.K550_V555del InFrameDeletion 11/21 - 4
4-55593581-GAAACCCATGTATGAAGTACAGTGGA-G c.1649_1673del p.K550Rfs*6 SpliceAcceptorDeletion 11/21 - 2
4-55593581-GAAACCC-G c.1649_1654del p.K550_P551del SpliceAcceptorDeletion 11/21 - 1
4-55593583-AAACCCAT-A c.1649_1655del p.K550Sfs*12 SpliceAcceptorDeletion 11/21 - 1
4-55593583-AAACCCATGTATGAAG-A c.1649_1663del p.K550_V555delinsI SpliceAcceptorDeletion 11/21 - 3
4-55593583-AAACCCATGTATGAAGTACAGT-A c.1649_1669del p.K550_W557delinsR SpliceAcceptorDeletion 11/21 - 1
4-55593583-AAACCCATGTATGAAGTACAGTGGAAGG-A c.1649_1675del p.K550_V559delinsI SpliceAcceptorDeletion 11/21 - 1
4-55593583-A-G c.1649A>G p.K550R Missense 11/21 - 1
4-55593583-A-T c.1649A>T p.K550I Missense 11/21 - 3
4-55593580-AGAAACCCATGTATGAAGTACAGTG-A c.1650_1673del p.P551_K558del InFrameDeletion 11/21 - 1
4-55593581-GA-G c.1650del p.K550Nfs*14 Frameshift 11/21 - 1
4-55593582-AAACCCATGTATGAAGTAC-A c.1650_1667del p.P551_Q556del InFrameDeletion 11/21 - 2
4-55593584-A-C c.1650A>C p.K550N Missense 11/21 - 5
4-55593584-ACCCATGTATGAAGTACAGTGGAA-CCTTCG c.1650_1673delinsCCTTCG p.K550_K558delinsNLR MultiAAMissense 11/21 - 1
4-55593584-ACCCATGTATGAAGTACAGTGG-CCACTGTACT c.1650_1671delinsCCACTGTACT p.K550_W557delinsNHCT MultiAAMissense 11/21 - 1
4-55593584-A-T c.1650A>T p.K550N Missense 11/21 - 5
4-55593582-AAACCCATGTATG-A c.1651_1662del p.P551_E554del InFrameDeletion 11/21 - 4
4-55593585-ACCC-A c.1651_1653del p.P551del InFrameDeletion 11/21 - 1
4-55593585-ACCCATG-A c.1651_1656del p.P551_M552del InFrameDeletion 11/21 - 1
4-55593585-ACCCATGTAT-A c.1651_1659del p.P551_Y553del InFrameDeletion 11/21 - 1
4-55593585-ACCCATGTATGAAG-A c.1651_1663del p.P551Yfs*9 Frameshift 11/21 - 1
4-55593585-ACCCATGTATGAAGTACAG-A c.1651_1668del p.P551_Q556del InFrameDeletion 11/21 - 1
4-55593585-ACCCATGTATGAAGTACAGTGG-A c.1651_1671del p.P551_W557del InFrameDeletion 11/21 - 1
4-55593585-ACCCATGTATGAAGTACAGTGGAAGGTTGTTG-A c.1651_1681del p.P551Rfs*3 Frameshift 11/21 - 1
4-55593585-C-T c.1651C>T p.P551S Missense 11/21 - 1
4-55593583-AACCCATGTATGAAGT-A c.1652_1666del p.P551_V555del InFrameDeletion 11/21 - 3
4-55593586-C-A c.1652C>A p.P551H Missense 11/21 - 1
4-55593586-CCATGTATGAAGTACAGT-ATG c.1652_1669delinsATG p.P551_W557delinsHG MultiAAMissense 11/21 - 1
4-55593586-CCATGTATGAAGT-GGCA c.1652_1664delinsGGCA p.P551_V555delinsRQ MultiAAMissense 11/21 - 1
4-55593586-CCCA-C c.1652_1654del p.P551_M552delinsL MultiAAMissense 11/21 - 2
4-55593586-CCCATGTATGAAG-C c.1652_1663del p.P551_V555delinsL MultiAAMissense 11/21 - 2
4-55593586-CCCATGTATGAAGTACAGT-C c.1652_1669del p.P551_W557delinsR MultiAAMissense 11/21 - 1
4-55593586-CCCATGTATGAAGTACAGTGGA-C c.1652_1672del p.P551_K558delinsQ MultiAAMissense 11/21 - 2
4-55593586-CCCATGT-C c.1652_1657del p.P551_Y553delinsH MultiAAMissense 11/21 - 2
4-55593586-C-T c.1652C>T p.P551L Missense 11/21 - 3
4-55593587-CATGTATG-AA c.1653_1660delinsAA p.M552_E554delinsK MultiAAMissense 11/21 - 1
4-55593587-CATGTATGAAGTACAGTGGA-GG c.1653_1672delinsGG p.M552_K558delinsE MultiAAMissense 11/21 - 1
4-55593587-CCATGTA-C c.1653_1658del p.M552_Y553del InFrameDeletion 11/21 - 1
4-55593587-CCATGTATGAAGTACAGTG-C c.1653_1670del p.M552_W557del InFrameDeletion 11/21 - 4
4-55593587-CCATGTATGAAGT-C c.1653_1664del p.M552_V555del InFrameDeletion 11/21 - 3
4-55593587-CCATGTATGA-C c.1653_1661del p.M552_E554del InFrameDeletion 11/21 - 1
4-55593588-A-C c.1654A>C p.M552L Missense 11/21 - 8
4-55593588-A-T c.1654A>T p.M552L Missense 11/21 - 8
4-55593588-CATG-C c.1654_1656del p.M552del InFrameDeletion 11/21 - 4
4-55593588-CATGTAT-C c.1654_1659del p.M552_Y553del InFrameDeletion 11/21 - 5
4-55593588-CATGTATGAA-C c.1654_1662del p.M552_E554del InFrameDeletion 11/21 - 2
4-55593588-CATGTATGAAGTA-C c.1654_1665del p.M552_V555del InFrameDeletion 11/21 - 2
4-55593588-CATGTATGAAGTACAG-C c.1654_1668del p.M552_Q556del InFrameDeletion 11/21 - 3
4-55593588-CATGTATGAAGTACAGTGGAAG-C c.1654_1674del p.M552_K558del InFrameDeletion 11/21 - 2
4-55593588-CATGTATGAAGTACAGTGGAAGGTT-C c.1654_1677del p.M552_V559del InFrameDeletion 11/21 - 1
4-55593588-CATGTATGAAGTACAGTGGAAGGTTGTT-C c.1654_1680del p.M552_V560del InFrameDeletion 11/21 - 1
4-55593588-CATGTATGAAGTACAGTGGAAGGTTGTTGAG-C c.1654_1683del p.M552_E561del InFrameDeletion 11/21 - 1
4-55593587-CATGTATGAAGTACAGTGG-C c.1655_1672del p.M552_W557del InFrameDeletion 11/21 - 5
4-55593589-ATGTATG-A c.1655_1660del p.M552_E554delinsK MultiAAMissense 11/21 - 6
4-55593589-ATGTATGAAGTAC-A c.1655_1666del p.M552_Q556delinsK MultiAAMissense 11/21 - 4
4-55593589-T-A c.1655T>A p.M552K Missense 11/21 - 1
4-55593589-T-C c.1655T>C p.M552T Missense 11/21 - 3
4-55593588-ATGTATGAAG-A c.1656_1664del p.M552_V555delinsI MultiAAMissense 11/21 - 2
4-55593588-ATGTATGAAGTACAGTGGAAGG-A c.1656_1676del p.M552_V559delinsI MultiAAMissense 11/21 - 1
4-55593588-ATGTATGAAGTACAGTGGAAGGTTG-A c.1656_1679del p.M552_V560delinsI MultiAAMissense 11/21 - 1
4-55593590-G-A c.1656G>A p.M552I Missense 11/21 - 1
4-55593590-G-C c.1656G>C p.M552I Missense 11/21 - 1
4-55593590-G-T c.1656G>T p.M552I Missense 11/21 - 1
4-55593590-GTATGAAGTACAGTGGAAGGT-AC c.1656_1676delinsAC p.M552Ifs*6 Frameshift 11/21 - 1
4-55593590-TGTATGA-T c.1656_1661del p.M552_E554delinsI MultiAAMissense 11/21 - 1
4-55593588-ATGTATGAAGTACAG-A c.1657_1670del p.Y553Efs*4 Frameshift 11/21 - 1
4-55593589-TGTATGAAGTACAGTGGAAGGTTGTTGA-T c.1657_1683del p.Y553_E561del InFrameDeletion 11/21 - 1
4-55593589-TGTATGAAGTACAGTGGAA-T c.1657_1674del p.Y553_K558del InFrameDeletion 11/21 - 8
4-55593589-TGTATGAAGTACAGTG-T c.1657_1671del p.Y553_W557del InFrameDeletion 11/21 - 3
4-55593591-GTAT-G c.1657_1659del p.Y553del InFrameDeletion 11/21 - 1
4-55593591-GTATGAA-G c.1657_1662del p.Y553_E554del InFrameDeletion 11/21 - 2
4-55593591-GTATGAAGTA-G c.1657_1665del p.Y553_V555del InFrameDeletion 11/21 - 1
4-55593591-T-A c.1657T>A p.Y553N Missense 11/21 - 13
4-55593591-TA-CT c.1657_1658delinsCT p.Y553L Missense 11/21 - 1
4-55593591-TAT-AAG c.1657_1659delinsAAG p.Y553K Missense 11/21 - 1
4-55593591-TATGAAGTACAGTGGAAGGTTGTT-GTTGTA c.1657_1680delinsGTTGTA p.Y553_K558del InFrameDeletion 11/21 - 1
4-55593591-T-G c.1657T>G p.Y553D Missense 11/21 - 1
4-55593589-TGTATGAAGTACA-T c.1658_1669del p.Y553_Q556del InFrameDeletion 11/21 - 4
4-55593592-A-C c.1658A>C p.Y553S Missense 11/21 - 1
4-55593592-A-G c.1658A>G p.Y553C Missense 11/21 - 6
4-55593592-AT-GG c.1658_1659delinsGG p.Y553W Missense 11/21 - 1
4-55593592-TATGAAGTACAGTGGAAGG-T c.1658_1675del p.Y553_V559delinsF MultiAAMissense 11/21 - 1
4-55593592-TATGAAGTACAGTGGAAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACA-T c.1658_1711del p.Y553_I571delinsL MultiAAMissense 11/21 - 1
4-55593592-TATGAAGTACAGTGGAAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGAC-T c.1658_1716del p.Y553Sfs*7 MultiAAMissense 11/21 - 1
4-55593593-ATGAAGTACAGTG-A c.1659_1670del p.Y553_W557delins* MultiAAMissense 11/21 - 1
4-55593593-ATGAAGTACAGTGGAAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACAT-A c.1659_1712del p.Y553_I571delins* MultiAAMissense 11/21 - 1
4-55593594-G-A c.1660G>A p.E554K Missense 11/21 - 5
4-55593594-TGAAGTACAGTGGAAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGAC-T c.1660_1716del p.E554_D572del InFrameDeletion 11/21 - 2
4-55593594-TGAAGTACAGTGG-T c.1660_1671del p.E554_W557del InFrameDeletion 11/21 - 1
4-55593590-GTATGAAGTACAGTGGAAGGTTGTTGAGGAGATAAATGGAAACAAT-G c.1661_1705del p.E554_Y568del InFrameDeletion 11/21 - 1
4-55593592-ATGAAGTACAGTGGAAGGT-A c.1661_1678del p.E554_V559del InFrameDeletion 11/21 - 3
4-55593593-TGAAGTACAGTGGAAG-T c.1661_1675del p.E554_K558del InFrameDeletion 11/21 - 7
4-55593593-TGAA-T c.1661_1663del p.E554del InFrameDeletion 11/21 - 5
4-55593593-TGAAGTACAGTGGAAGGTTGTTGAG-T c.1662_1685del p.V555_E562del InFrameDeletion 11/21 - 3
4-55593594-GAAGTAC-G c.1662_1667del p.V555_Q556del InFrameDeletion 11/21 - 1
4-55593596-A-C c.1662A>C p.E554D Missense 11/21 - 1
4-55593596-AGTACAGTGGAAG-GGAAGAA c.1662_1674delinsGGAAGAA p.V555_K558delinsEE MultiAAMissense 11/21 - 1
4-55593596-A-T c.1662A>T p.E554D Missense 11/21 - 1
4-55593595-AAGT-A c.1663_1665del p.V555del InFrameDeletion 11/21 - 9
4-55593595-AAGTACAGTGGAAGGTTGTTGAGGAGAT-A c.1663_1689del p.V555_I563del InFrameDeletion 11/21 - 2
4-55593595-AAGTACAGTGGAAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCC-A c.1663_1719del p.V555_P573del InFrameDeletion 11/21 - 1
4-55593597-AGTACAG-A c.1663_1668del p.V555_Q556del InFrameDeletion 11/21 - 5
4-55593597-AGTACAGTGG-A c.1663_1671del p.V555_W557del InFrameDeletion 11/21 - 1
4-55593597-AGTACAGTGGAAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTAC-A c.1663_1710del p.V555_Y570del InFrameDeletion 11/21 - 1
4-55593597-AGTACAGTGGAAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGAC-A c.1663_1716del p.V555_D572del InFrameDeletion 11/21 - 1
4-55593597-G-A c.1663G>A p.V555I Missense 11/21 - 2
4-55593597-G-C c.1663G>C p.V555L Missense 11/21 - 1
4-55593597-G-T c.1663G>T p.V555L Missense 11/21 - 1
4-55593597-GTA-ATG c.1663_1665delinsATG p.V555M Missense 11/21 - 1
4-55593597-GT-AGGCA c.1663_1664delinsAGGCA p.V555delinsRQ MultiAAMissense 11/21 - 1
4-55593595-AAGTACAGTGGAAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACAT-A c.1664_1714del p.V555_I571del InFrameDeletion 11/21 - 2
4-55593596-AGTACAGTGGAAGGTTGTT-A c.1664_1681del p.V555_V560del InFrameDeletion 11/21 - 2
4-55593598-GTACAGT-G c.1664_1669del p.V555_W557delinsG MultiAAMissense 11/21 - 1
4-55593598-GTACAGTGGAAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGA-G c.1664_1715del p.V555Afs*18 Frameshift 11/21 - 1
4-55593598-T-G c.1664T>G p.V555G Missense 11/21 - 1
4-55593596-AGTACAGTGGAAG-A c.1665_1676del p.Q556_V559del InFrameDeletion 11/21 - 2
4-55593596-AGTACAGTGGAAGGTT-A c.1665_1679del p.Q556_V560del InFrameDeletion 11/21 - 5
4-55593599-ACAGTGGA-CC c.1665_1672delinsCC p.W557_K558del InFrameDeletion 11/21 - 1
4-55593599-TACAGTGGAA-T c.1665_1673del p.Q556_K558del InFrameDeletion 11/21 - 1
4-55593597-GTACAGTGGAAGGTTGTTGAGGAGA-G c.1666_1689del p.Q556_I563del InFrameDeletion 11/21 - 2
4-55593597-GTACAGTGGAAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACA-G c.1666_1713del p.Q556_I571del InFrameDeletion 11/21 - 1
4-55593598-TACAGTGGAAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCC-T c.1666_1719del p.Q556_P573del InFrameDeletion 11/21 - 1
4-55593600-ACAG-A c.1666_1668del p.Q556del InFrameDeletion 11/21 - 10
4-55593600-ACAGTGG-A c.1666_1671del p.Q556_W557del InFrameDeletion 11/21 - 4
4-55593600-ACAGTGGAAG-A c.1666_1674del p.Q556_K558del InFrameDeletion 11/21 - 3
4-55593600-ACAGTGGAAGGTT-A c.1666_1677del p.Q556_V559del InFrameDeletion 11/21 - 1
4-55593600-ACAGTGGAAGGTTGTT-A c.1666_1680del p.Q556_V560del InFrameDeletion 11/21 - 5
4-55593600-C-A c.1666C>A p.Q556K Missense 11/21 - 1
4-55593600-CA-GT c.1666_1667delinsGT p.Q556V Missense 11/21 - 1
4-55593600-C-G c.1666C>G p.Q556E Missense 11/21 - 2
4-55593599-ACAGTGGAAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGAC-A c.1667_1717del p.Q556_D572del InFrameDeletion 11/21 - 1
4-55593601-AGTGGAAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCA-CT c.1667_1719delinsCT p.Q556_D572del InFrameDeletion 11/21 - 1
4-55593601-A-T c.1667A>T p.Q556L Missense 11/21 - 1
4-55593601-CA-C c.1667del p.Q556Rfs*8 Frameshift 11/21 - 1
4-55593601-CAGT-C c.1667_1669del p.Q556_W557delinsR MultiAAMissense 11/21 - 2
4-55593601-CAGTGGAAG-C c.1667_1674del p.Q556Rfs*3 Frameshift 11/21 - 1
4-55593601-CAGTGGAAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAACACAA-C c.1667_1725del p.Q556Pfs*4 InFrameDeletion 11/21 - 1
4-55593600-CAGTGGAAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAG-C c.1668_1715del p.Q556_D572delinsH MultiAAMissense 11/21 - 1
4-55593600-CAGTGGAAGGTTGTTGAGGAGATAA-C c.1668_1691del p.Q556_N564delinsH MultiAAMissense 11/21 - 2
4-55593602-AGTGGAAGGT-A c.1668_1676del p.Q556_V559delinsH MultiAAMissense 11/21 - 4
4-55593602-AGTGGAAGGTTGT-A c.1668_1679del p.Q556_V560delinsH MultiAAMissense 11/21 - 5
4-55593602-AGTGGAAGGTTGTTGAGGAG-A c.1668_1686del p.W557* Frameshift 11/21 - 2
4-55593602-G-C c.1668G>C p.Q556H Missense 11/21 - 3
4-55593602-G-T c.1668G>T p.Q556H Missense 11/21 - 3
4-55593602-GTGG-A c.1668_1671delinsA p.W557del InFrameDeletion 11/21 - 3
4-55593602-GTGGAAGGTTG-AAACC c.1668_1678delinsAAACC p.W557_V560delinsNL MultiAAMissense 11/21 - 1
4-55593602-GTGGAAGGTTGTT-C c.1668_1680delinsC p.Q556_V560delinsH MultiAAMissense 11/21 - 1
4-55593602-GTGGAAGGTTGTTGAG-ACAA c.1668_1683delinsACAA p.W557_E561delinsQ MultiAAMissense 11/21 - 1
4-55593602-GTGGAAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACC-ACCTT c.1668_1717delinsACCTT p.W557_P573delinsPS MultiAAMissense 11/21 - 2
4-55593602-GTGGAAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCA-T c.1668_1719delinsT p.Q556_P573delinsH MultiAAMissense 11/21 - 1
4-55593602-GTGGAAG-T c.1668_1674delinsT p.Q556_K558delinsH MultiAAMissense 11/21 - 1
4-55593602-GTGGAAG-TTCT c.1668_1674delinsTTCT p.Q556_K558delinsHS MultiAAMissense 11/21 - 1
4-55593600-CAGTGGAAGGTTGTTG-C c.1669_1683del p.W557_E561del InFrameDeletion 11/21 - 9
4-55593600-CAGTGGA-C c.1669_1674del p.W557_K558del InFrameDeletion 11/21 - 33
4-55593601-AGTG-A c.1669_1671del p.W557del InFrameDeletion 11/21 - 5
4-55593602-G-GT c.1669dup p.W557Lfs*5 Frameshift 11/21 - 2
4-55593603-GT-G c.1669del p.W557Gfs*7 Frameshift 11/21 - 1
4-55593603-GTGGAA-G c.1669_1673del p.W557Gfs*3 Frameshift 11/21 - 3
4-55593603-GTGGAAGGTT-G c.1669_1677del p.W557_V559del InFrameDeletion 11/21 - 3
4-55593603-GTGGAAGGTTGTT-G c.1669_1680del p.W557_V560del InFrameDeletion 11/21 - 3
4-55593603-GTGGAAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAACACAA-G c.1669_1725del p.W557_Q575del InFrameDeletion 11/21 - 1
4-55593603-GTGGAAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTAC-G c.1669_1710del p.W557_Y570del InFrameDeletion 11/21 - 1
4-55593603-GTGGA-G c.1669_1672del p.W557Rfs*6 Frameshift 11/21 - 3
4-55593603-T-A c.1669T>A p.W557R Missense 11/21 - 93
4-55593603-T-C c.1669T>C p.W557R Missense 11/21 - 92
4-55593603-T-CAAA c.1669delinsCAAA p.W557delinsQR MultiAAMissense 11/21 - 1
4-55593603-T-G c.1669T>G p.W557G Missense 11/21 - 39
4-55593603-TG-AC c.1669_1670delinsAC p.W557T Missense 11/21 - 1
4-55593603-TG-AT c.1669_1670delinsAT p.W557M Missense 11/21 - 1
4-55593603-TGG-AACCATTGTACA c.1669_1671delinsAACCATTGTACA p.W557delinsNHCT MultiAAMissense 11/21 - 1
4-55593603-TGGA-G c.1669_1672delinsG p.W557_K558delinsE MultiAAMissense 11/21 - 1
4-55593603-TGG-CATGGT c.1669_1671delinsCATGGT p.W557delinsHG MultiAAMissense 11/21 - 1
4-55593604-GG-TTCTT c.1670_1671delinsTTCTT p.W557delinsFL MultiAAMissense 11/21 - 1
4-55593604-G-A c.1670G>A p.W557* Nonsense 11/21 - 3
4-55593604-G-C c.1670G>C p.W557S Missense 11/21 - 7
4-55593604-GGAAGG-TCC c.1670_1675delinsTCC p.W557_V559delinsFL MultiAAMissense 11/21 - 1
4-55593604-GG-TT c.1670_1671delinsTT p.W557F Missense 11/21 - 2
4-55593604-G-T c.1670G>T p.W557L Missense 11/21 - 2
4-55593604-TGGAAGG-T c.1670_1675del p.W557_V559delinsF MultiAAMissense 11/21 - 21
4-55593604-TGGAAGGTTG-T c.1670_1678del p.W557_V560delinsF MultiAAMissense 11/21 - 4
4-55593604-TGGAAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACC-T c.1670_1717del p.W557_P573delinsS MultiAAMissense 11/21 - 1
4-55593604-TGGAAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAG-T c.1670_1714del p.W557_D572delinsY MultiAAMissense 11/21 - 1
4-55593604-TGGAAGGTTGTTGAGGAGATAA-T c.1670_1690del p.W557_N564delinsY MultiAAMissense 11/21 - 1
4-55593605-G-A c.1671G>A p.W557* Nonsense 11/21 - 2
4-55593605-G-C c.1671G>C p.W557C Missense 11/21 - 7
4-55593605-GGAAGGT-G c.1671_1676del p.W557_V559delinsC MultiAAMissense 11/21 - 8
4-55593605-GGAAGGTTGT-G c.1671_1679del p.W557_V560delinsC MultiAAMissense 11/21 - 4
4-55593605-GGAAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGA-G c.1671_1715del p.W557_D572delinsC MultiAAMissense 11/21 - 1
4-55593605-G-T c.1671G>T p.W557C Missense 11/21 - 8
4-55593603-TGGAA-T c.1672_1675del p.K558Lfs*5 Frameshift 11/21 - 1
4-55593604-GGAA-G c.1672_1674del p.K558del InFrameDeletion 11/21 - 34
4-55593606-AAG-CATAGC c.1672_1674delinsCATAGC p.K558delinsHS MultiAAMissense 11/21 - 1
4-55593606-AA-GG c.1672_1673delinsGG p.K558G Missense 11/21 - 1
4-55593606-AAGGTTGTTG-C c.1672_1681delinsC p.K558_E561delinsQ MultiAAMissense 11/21 - 1
4-55593606-A-C c.1672A>C p.K558Q Missense 11/21 - 4
4-55593606-A-G c.1672A>G p.K558E Missense 11/21 - 6
4-55593606-A-TGTG c.1672delinsTGTG p.K558delinsCE MultiAAMissense 11/21 - 1
4-55593606-GAAGGTT-G c.1672_1677del p.K558_V559del InFrameDeletion 11/21 - 5
4-55593606-GAAGGTTGTT-G c.1672_1680del p.K558_V560del InFrameDeletion 11/21 - 5
4-55593606-GAAGGTTGTTGAGGAGATAAAT-G c.1672_1692del p.K558_N564del InFrameDeletion 11/21 - 2
4-55593606-GAAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATA-G c.1672_1713del p.K558_I571del InFrameDeletion 11/21 - 1
4-55593604-GGAAGGTTGTTGAGGA-G c.1673_1687del p.K558_E562del InFrameDeletion 11/21 - 9
4-55593605-GAAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTAC-G c.1673_1711del p.K558_Y570del InFrameDeletion 11/21 - 1
4-55593607-AAGGTTG-A c.1673_1678del p.K558_V560delinsI MultiAAMissense 11/21 - 3
4-55593607-AAGGTTGTTGAGGAGATAAATG-A c.1673_1693del p.K558_G565delinsR MultiAAMissense 11/21 - 4
4-55593607-AAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACC-A c.1673_1717del p.K558_P573delinsT MultiAAMissense 11/21 - 1
4-55593607-AAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAACACAACTTC-A c.1673_1729del p.K558_P577delinsT MultiAAMissense 11/21 - 1
4-55593607-A-ATCC c.1673_1674insTCC p.K558delinsNP MultiAAMissense 11/21 - 3
4-55593607-A-G c.1673A>G p.K558R Missense 11/21 - 5
4-55593607-AG-GC c.1673_1674delinsGC p.K558S Missense 11/21 - 1
4-55593607-AGGT-G c.1673_1676delinsG p.K558_V559delinsS MultiAAMissense 11/21 - 1
4-55593607-AG-TC c.1673_1674delinsTC p.K558I Missense 11/21 - 3
4-55593605-GAAGGTTGTTGAGGAGATAAATGGA-G c.1674_1697del p.K558_G565del InFrameDeletion 11/21 - 1
4-55593605-GAAGGTTGTTGAGGAGATA-G c.1674_1691del p.K558_I563del InFrameDeletion 11/21 - 1
4-55593606-AAGGTTGTTGAGGAGATAAATGG-A c.1674_1695del p.V559Tfs*6 Frameshift 11/21 - 2
4-55593606-AAGGTTGTTGAGGAGATAAATGGAAAC-A c.1674_1699del p.V559Lfs*12 Frameshift 11/21 - 1
4-55593606-AAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAG-A c.1674_1715del p.K558_D572delinsN MultiAAMissense 11/21 - 3
4-55593608-AGGT-A c.1674_1676del p.K558_V559delinsN MultiAAMissense 11/21 - 6
4-55593608-AGGTTGT-A c.1674_1679del p.K558_V560delinsN MultiAAMissense 11/21 - 4
4-55593608-G-A c.1674G>A p.K558= Synonymous 11/21 - 2
4-55593608-G-C c.1674G>C p.K558N Missense 11/21 - 5
4-55593608-G-GAGC c.1674_1675insAGC p.K558_V559insS InFrameInsertion 11/21 - 2
4-55593608-G-T c.1674G>T p.K558N Missense 11/21 - 4
4-55593606-AAGGTTGTTGAGG-A c.1675_1686del p.V559_E562del InFrameDeletion 11/21 - 1
4-55593609-G-A c.1675G>A p.V559I Missense 11/21 - 18
4-55593609-G-C c.1675G>C p.V559L Missense 11/21 - 1
4-55593609-GGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAACACAACTT-G c.1675_1728del p.V559_L576del InFrameDeletion 11/21 - 1
4-55593609-GGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAACA-G c.1675_1722del p.V559_T574del InFrameDeletion 11/21 - 2
4-55593609-GGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCA-G c.1675_1719del p.V559_P573del InFrameDeletion 11/21 - 1
4-55593609-GGTTGTTGAGGAGATAAATGGA-G c.1675_1695del p.V559_G565del InFrameDeletion 11/21 - 3
4-55593609-G-T c.1675G>T p.V559F Missense 11/21 - 2
4-55593609-GT-CC c.1675_1676delinsCC p.V559P Missense 11/21 - 1
4-55593609-GT-CG c.1675_1676delinsCG p.V559R Missense 11/21 - 1
4-55593609-GT-TG c.1675_1676delinsTG p.V559C Missense 11/21 - 4
4-55593609-GTT-TAA c.1675_1677delinsTAA p.V559* Nonsense 11/21 - 2
4-55593609-G-TTTC c.1675delinsTTTC p.V559delinsFL MultiAAMissense 11/21 - 1
4-55593610-TT-GTGAGAAC c.1676_1677delinsGTGAGAAC p.V559delinsGEN MultiAAMissense 11/21 - 1
4-55593606-AAGGTTGTTG-A c.1676_1684del p.V559_E561del InFrameDeletion 11/21 - 6
4-55593608-GGTTGTT-G c.1676_1681del p.V559_V560del InFrameDeletion 11/21 - 6
4-55593608-GGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATA-G c.1676_1714del p.V559_I571del InFrameDeletion 11/21 - 1
4-55593610-GTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAA-G c.1676_1720del p.V559_T574delinsA MultiAAMissense 11/21 - 1
4-55593610-GTTGTTGAGGAGATAAATGGAA-G c.1676_1696del p.V559_N566delinsD MultiAAMissense 11/21 - 1
4-55593610-T-A c.1676T>A p.V559D Missense 11/21 - 150
4-55593610-T-C c.1676T>C p.V559A Missense 11/21 - 90
4-55593610-T-G c.1676T>G p.V559G Missense 11/21 - 44
4-55593610-T-TC c.1676_1677insC p.V560Cfs*2 Frameshift 11/21 - 1
4-55593610-TTGT-G c.1676_1679delinsG p.V559_V560delinsG MultiAAMissense 11/21 - 1
4-55593610-TTGTTGAGGAGATAAATGG-A c.1676_1694delinsA p.V559_G565delinsE MultiAAMissense 11/21 - 1
4-55593610-TTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCC-A c.1676_1718delinsA p.V559_P573delinsE MultiAAMissense 11/21 - 1
4-55593609-GTTGTTGAGGAGA-G c.1677_1688del p.V560_I563del InFrameDeletion 11/21 - 1
4-55593611-TTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCC-T c.1677_1718del p.V560_P573del InFrameDeletion 11/21 - 1
4-55593609-GTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAACACAAC-G c.1678_1728del p.V560_L576del InFrameDeletion 11/21 - 8
4-55593612-G-A c.1678G>A p.V560I Missense 11/21 - 2
4-55593612-G-AACC c.1678delinsAACC p.V560delinsNL MultiAAMissense 11/21 - 1
4-55593612-G-T c.1678G>T p.V560F Missense 11/21 - 1
4-55593612-GTT-TAA c.1678_1680delinsTAA p.V560* Nonsense 11/21 - 1
4-55593608-GGTT-G c.1679_1681del p.V560del InFrameDeletion 11/21 - 54
4-55593610-TTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAACACAACTTCCTTA-T c.1679_1735del p.V560_Y578del InFrameDeletion 11/21 - 6
4-55593613-GTT-G c.1679_1680del p.V560Gfs*19 Frameshift 11/21 - 1
4-55593613-T-A c.1679T>A p.V560D Missense 11/21 - 146
4-55593613-T-C c.1679T>C p.V560A Missense 11/21 - 7
4-55593613-T-G c.1679T>G p.V560G Missense 11/21 - 144
4-55593613-TT-AG c.1679_1680delinsAG p.V560E Missense 11/21 - 17
4-55593614-T-G c.1680T>G p.V560= Synonymous 11/21 - 1
4-55593615-G-A c.1681G>A p.E561K Missense 11/21 - 11
4-55593615-GA-CC c.1681_1682delinsCC p.E561P Missense 11/21 - 1
4-55593615-GAG-CTTCAA c.1681_1683delinsCTTCAA p.E561delinsLQ MultiAAMissense 11/21 - 1
4-55593616-A-G c.1682A>G p.E561G Missense 11/21 - 1
4-55593617-G-A c.1683G>A p.E561= Synonymous 11/21 - 1
4-55593614-TGAG-T c.1684_1686del p.E562del InFrameDeletion 11/21 - 13
4-55593618-G-A c.1684G>A p.E562K Missense 11/21 - 2
4-55593618-GGAGATAAATGGAAACAATTATGTTTACATAGACCCAACACAACTT-G c.1684_1728del p.E562_L576del InFrameDeletion 11/21 - 1
4-55593618-GGAGATAAATGGAAACAATTATGTTTACATAGACCCA-G c.1684_1719del p.E562_P573del InFrameDeletion 11/21 - 1
4-55593618-G-T c.1684G>T p.E562* Nonsense 11/21 - 1
4-55593619-A-T c.1685A>T p.E562V Missense 11/21 - 2
4-55593620-GATAAATGGAAACAATTATGTTTACATAGACCCAACA-T c.1686_1722delinsT p.E562_T574delinsD MultiAAMissense 11/21 - 1
4-55593620-G-C c.1686G>C p.E562D Missense 11/21 - 2
4-55593620-G-T c.1686G>T p.E562D Missense 11/21 - 2
4-55593621-A-C c.1687A>C p.I563L Missense 11/21 - 1
4-55593621-A-T c.1687A>T p.I563L Missense 11/21 - 1
4-55593621-GATAAATGGAAACAATTATGTTTACATAGACCCAACACAACTT-G c.1687_1728del p.I563_L576del InFrameDeletion 11/21 - 2
4-55593621-GATAAATGGAAACAATTATGTTTACATAGACCCAACACAA-G c.1687_1725del p.I563_Q575del InFrameDeletion 11/21 - 1
4-55593620-GATAAATGGAAACAATTATGTTTACATAGACCCA-G c.1688_1720del p.I563_P573del InFrameDeletion 11/21 - 2
4-55593620-GATA-G c.1688_1690del p.I563del InFrameDeletion 11/21 - 3
4-55593622-T-A c.1688T>A p.I563K Missense 11/21 - 4
4-55593620-GATAA-G c.1689_1692del p.I563Mfs*8 Frameshift 11/21 - 1
4-55593623-A-G c.1689A>G p.I563M Missense 11/21 - 1
4-55593624-AAAT-A c.1690_1692del p.N564del InFrameDeletion 11/21 - 1
4-55593624-AAATGGAAACAATTATGTTTACATAGACCCAACACAACTT-A c.1690_1728del p.N564_L576del InFrameDeletion 11/21 - 2
4-55593624-AAATGGAAACAATTATGTTTACATAGACCCAACACAACTTCCTTAT-A c.1690_1734del p.N564_Y578del InFrameDeletion 11/21 - 2
4-55593624-AATGGAAACAATTATGTTTACATAGACCCA-CATGGGAAAC c.1690_1719delinsCATGGGAAAC p.N564Hfs*9 Frameshift 11/21 - 1
4-55593624-A-G c.1690A>G p.N564D Missense 11/21 - 1
4-55593624-A-T c.1690A>T p.N564Y Missense 11/21 - 1
4-55593625-A-G c.1691A>G p.N564S Missense 11/21 - 2
4-55593625-A-T c.1691A>T p.N564I Missense 11/21 - 1
4-55593626-T-A c.1692T>A p.N564K Missense 11/21 - 1
4-55593626-T-G c.1692T>G p.N564K Missense 11/21 - 1
4-55593625-ATGGAAACAATTATGTTTACATAGACCCAACACAACT-A c.1693_1728del p.G565_L576del InFrameDeletion 11/21 - 2
4-55593627-G-A c.1693G>A p.G565R Missense 11/21 - 3
4-55593627-G-C c.1693G>C p.G565R Missense 11/21 - 1
4-55593627-GG-AC c.1693_1694delinsAC p.G565T Missense 11/21 - 1
4-55593627-GG-AGGGAGAGGAC c.1693_1694delinsAGGGAGAGGAC p.G565delinsRERT MultiAAMissense 11/21 - 1
4-55593627-GG-CC c.1693_1694inv p.G565P Missense 11/21 - 1
4-55593627-G-T c.1693G>T p.G565* Nonsense 11/21 - 1
4-55593627-TGGAAACAATTATGTTTACATAGACCCA-T c.1693_1719del p.G565_P573del InFrameDeletion 11/21 - 1
4-55593627-TGGA-T c.1693_1695del p.G565del InFrameDeletion 11/21 - 6
4-55593626-TGGAAACAATTATGTTTACATA-T c.1694_1714del p.G565_I571del InFrameDeletion 11/21 - 1
4-55593628-G-T c.1694G>T p.G565V Missense 11/21 - 7
4-55593628-GAAACAATTATGTTTACATAGACCCAAC-G c.1696_1722del p.N566_T574del InFrameDeletion 11/21 - 1
4-55593630-A-G c.1696A>G p.N566D Missense 11/21 - 8
4-55593630-A-T c.1696A>T p.N566Y Missense 11/21 - 1
4-55593628-GAAACAATTATGTTTACATAGACCC-G c.1697_1720del p.N566_P573del InFrameDeletion 11/21 - 2
4-55593631-A-C c.1697A>C p.N566T Missense 11/21 - 1
4-55593631-A-G c.1697A>G p.N566S Missense 11/21 - 1
4-55593629-AAAC-A c.1698_1700del p.N567del InFrameDeletion 11/21 - 1
4-55593632-C-T c.1698C>T p.N566= Synonymous 11/21 - 1
4-55593633-CAATTATGTTTACATAGACCCAACA-C c.1699_1722del p.N567_T574del InFrameDeletion 11/21 - 1
4-55593629-AAACAATTATGTTTACATAGACCC-A c.1700_1722del p.N567Tfs*5 Frameshift 11/21 - 2
4-55593632-CAATTATGTTTACATAGACCCA-C c.1700_1720del p.N567_P573del InFrameDeletion 11/21 - 1
4-55593634-AATTATGTTTACATAGACCCAACACAAC-A c.1700_1726del p.N567_L576delinsI MultiAAMissense 11/21 - 1
4-55593634-A-G c.1700A>G p.N567S Missense 11/21 - 1
4-55593634-A-T c.1700A>T p.N567I Missense 11/21 - 1
4-55593635-T-A c.1701T>A p.N567K Missense 11/21 - 1
4-55593635-TTATGTTTACATAGACCCAACACAACTT-GGAA c.1701_1728delinsGGAA p.N567_L576delinsKE MultiAAMissense 11/21 - 1
4-55593636-T-G c.1702T>G p.Y568D Missense 11/21 - 8
4-55593636-TTATGTTTACATAGACCCAACA-T c.1702_1722del p.Y568_T574del InFrameDeletion 11/21 - 1
4-55593637-A-C c.1703A>C p.Y568S Missense 11/21 - 3
4-55593637-A-G c.1703A>G p.Y568C Missense 11/21 - 1
4-55593637-A-T c.1703A>T p.Y568F Missense 11/21 - 3
4-55593637-ATGTTTACATAGACCCAACACAACT-A c.1705_1728del p.V569_L576del InFrameDeletion 11/21 - 3
4-55593639-G-A c.1705G>A p.V569I Missense 11/21 - 2
4-55593639-G-C c.1705G>C p.V569L Missense 11/21 - 1
4-55593639-TGTTTACATAGACCCAACACAA-T c.1705_1725del p.V569_Q575del InFrameDeletion 11/21 - 1
4-55593639-TGTTTACATAGAC-T c.1705_1716del p.V569_D572del InFrameDeletion 11/21 - 1
4-55593634-ATTATGTTTACATAGACCCAACACAACTTCC-A c.1706_1735del p.V569_Y578del InFrameDeletion 11/21 - 1
4-55593640-T-C c.1706T>C p.V569A Missense 11/21 - 3
4-55593640-T-G c.1706T>G p.V569G Missense 11/21 - 5
4-55593640-TT-AG c.1706_1707delinsAG p.V569E Missense 11/21 - 1
4-55593639-GT-G c.1708del p.Y570Tfs*2 Frameshift 11/21 - 1
4-55593639-GTTTACATAGACCCAACACAAC-G c.1708_1728del p.Y570_L576del InFrameDeletion 11/21 - 11
4-55593642-T-C c.1708T>C p.Y570H Missense 11/21 - 3
4-55593642-TTAC-T c.1708_1710del p.Y570del InFrameDeletion 11/21 - 1
4-55593643-A-T c.1709A>T p.Y570F Missense 11/21 - 2
4-55593644-C-A c.1710C>A p.Y570* Nonsense 11/21 - 2
4-55593644-C-G c.1710C>G p.Y570* Nonsense 11/21 - 1
4-55593645-A-C c.1711A>C p.I571L Missense 11/21 - 3
4-55593645-A-G c.1711A>G p.I571V Missense 11/21 - 1
4-55593645-A-T c.1711A>T p.I571L Missense 11/21 - 3
4-55593645-AT-GC c.1711_1712delinsGC p.I571A Missense 11/21 - 1
4-55593645-CATA-C c.1711_1713del p.I571del InFrameDeletion 11/21 - 2
4-55593645-CATAGACCCAACACAACTT-C c.1711_1728del p.I571_L576del InFrameDeletion 11/21 - 1
4-55593646-T-A c.1712T>A p.I571K Missense 11/21 - 1
4-55593646-T-C c.1712T>C p.I571T Missense 11/21 - 1
4-55593648-AGAC-A c.1714_1716del p.D572del InFrameDeletion 11/21 - 1
4-55593648-G-A c.1714G>A p.D572N Missense 11/21 - 3
4-55593649-A-C c.1715A>C p.D572A Missense 11/21 - 6
4-55593649-A-G c.1715A>G p.D572G Missense 11/21 - 6
4-55593650-C-A c.1716C>A p.D572E Missense 11/21 - 1
4-55593650-C-G c.1716C>G p.D572E Missense 11/21 - 1
4-55593651-CCCA-C c.1717_1719del p.P573del InFrameDeletion 11/21 - 2
4-55593651-C-T c.1717C>T p.P573S Missense 11/21 - 1
4-55593652-CA-ATGGTAAC c.1718_1719delinsATGGTAAC p.P573delinsHGN MultiAAMissense 11/21 - 1
4-55593652-C-A c.1718C>A p.P573Q Missense 11/21 - 2
4-55593652-C-G c.1718C>G p.P573R Missense 11/21 - 1
4-55593652-C-T c.1718C>T p.P573L Missense 11/21 - 5
4-55593653-CAACACAACTTCCTTATGATCA-C c.1719_1739del p.T574_H580del InFrameDeletion 11/21 - 1
4-55593651-CCAA-C c.1720_1722del p.T574del InFrameDeletion 11/21 - 5
4-55593654-A-G c.1720A>G p.T574A Missense 11/21 - 3
4-55593653-AACACAACTTCCTTATGATCAC-A c.1721_1741del p.T574_H580del InFrameDeletion 11/21 - 1
4-55593655-C-T c.1721C>T p.T574I Missense 11/21 - 2
4-55593647-A-AGACCCAACATAT c.1722_1723insTATGACCCAACA p.T574_Q575insYDPT InFrameInsertion 11/21 - 1
4-55593654-ACACAACTTC-A c.1722_1730del p.Q575_P577del InFrameDeletion 11/21 - 1
4-55593656-A-AAAG c.1722_1723insAAG p.T574_Q575insK InFrameInsertion 11/21 - 1
4-55593657-C-G c.1723C>G p.Q575E Missense 11/21 - 1
4-55593655-CACA-C c.1724_1726del p.Q575del InFrameDeletion 11/21 - 4
4-55593656-ACAACTT-A c.1724_1729del p.Q575_L576del InFrameDeletion 11/21 - 1
4-55593658-A-T c.1724A>T p.Q575L Missense 11/21 - 1
4-55593657-CAACTTCCTT-C c.1725_1733del p.Q575_Y578delinsH MultiAAMissense 11/21 - 4
4-55593659-A-C c.1725A>C p.Q575H Missense 11/21 - 1
4-55593659-A-T c.1725A>T p.Q575H Missense 11/21 - 1
4-55593659-A-AC c.1726dup p.L576Pfs*4 Frameshift 11/21 - 1
4-55593660-C-G c.1726C>G p.L576V Missense 11/21 - 2
4-55593660-C-T c.1726C>T p.L576F Missense 11/21 - 2
4-55593660-CT-AA c.1726_1727delinsAA p.L576N Missense 11/21 - 1
4-55593660-CTT-AAGGAG c.1726_1728delinsAAGGAG p.L576delinsKE MultiAAMissense 11/21 - 1
4-55593660-CT-TG c.1726_1727delinsTG p.L576C Missense 11/21 - 1
4-55593660-CTT-TGTGTA c.1726_1728delinsTGTGTA p.L576delinsCV MultiAAMissense 11/21 - 1
4-55593659-ACTT-A c.1727_1729del p.L576del InFrameDeletion 11/21 - 23
4-55593661-T-A c.1727T>A p.L576H Missense 11/21 - 1
4-55593661-T-C c.1727T>C p.L576P Missense 11/21 - 258
4-55593661-TTCC-T c.1729_1731del p.P577del InFrameDeletion 11/21 - 7
4-55593661-TTCCTTA-T c.1729_1734del p.P577_Y578del InFrameDeletion 11/21 - 1
4-55593663-C-T c.1729C>T p.P577S Missense 11/21 - 3
4-55593661-TTCCTTATGA-T c.1730_1738del p.P577_D579del InFrameDeletion 11/21 - 2
4-55593664-C-T c.1730C>T p.P577L Missense 11/21 - 2
4-55593664-CTTA-C c.1732_1734del p.Y578del InFrameDeletion 11/21 - 5
4-55593666-TA-CC c.1732_1733delinsCC p.Y578P Missense 11/21 - 1
4-55593666-TA-GG c.1732_1733delinsGG p.Y578G Missense 11/21 - 1
4-55593665-TTA-T c.1733_1734del p.Y578* Frameshift 11/21 - 1
4-55593667-A-G c.1733A>G p.Y578C Missense 11/21 - 5
4-55593667-A-T c.1733A>T p.Y578F Missense 11/21 - 1
4-55593666-TATG-T c.1735_1737del p.D579del InFrameDeletion 11/21 - 41
4-55593654-A-ACACAACTTCCTTATGATTTACCCC c.1737_1738insTTACCCCCACAACTTCCTTATGAT p.D579_H580insLPPQLPYD InFrameInsertion 11/21 - 1
4-55593671-T-C c.1737T>C p.D579= Synonymous 11/21 - 1
4-55593672-C-G c.1738C>G p.H580D Missense 11/21 - 1
4-55593672-C-T c.1738C>T p.H580Y Missense 11/21 - 2
4-55593672-TCACAAATGGGAGTTTCCC-T c.1738_1755del p.H580_P585del InFrameDeletion 11/21 - 1
4-55593672-TCAC-T c.1738_1740del p.H580del InFrameDeletion 11/21 - 1
4-55593649-A-ACCCAACACAACTTCCTTATGATCAACC c.1739_1740insACCCCCAACACAACTTCCTTATGATCA p.D579_H580insQPPTQLPYD InFrameInsertion 11/21 - 1
4-55593651-C-CCAACACAACTTCCTTATGATCATGGAACAA c.1739_1740insTGGAACAACAACACAACTTCCTTATGATCA p.H580_K581insGTTTQLPYDH InFrameInsertion 11/21 - 1
4-55593671-T-TCAACAACTTCCTTATGAC c.1739_1740insACAACTTCCTTATGACCA p.D579_H580insQQLPYD InFrameInsertion 11/21 - 1
4-55593673-ACAA-C c.1739_1742delinsC p.H580_K581delinsP MultiAAMissense 11/21 - 1
4-55593673-A-T c.1739A>T p.H580L Missense 11/21 - 1
4-55593674-C-T c.1740C>T p.H580= Synonymous 11/21 - 1
4-55593678-ATGG-A c.1744_1746del p.W582del InFrameDeletion 11/21 - 1
4-55593678-TG-CA c.1744_1745inv p.W582Q Missense 11/21 - 1
4-55593678-TGG-CAT c.1744_1746delinsCAT p.W582H Missense 11/21 - 1
4-55593679-G-A c.1745G>A p.W582* Nonsense 11/21 - 3
4-55593679-G-C c.1745G>C p.W582S Missense 11/21 - 1
4-55593679-GG-AT c.1745_1746delinsAT p.W582Y Missense 11/21 - 1
4-55593679-G-T c.1745G>T p.W582L Missense 11/21 - 1
4-55593680-G-A c.1746G>A p.W582* Nonsense 11/21 - 2
4-55593681-G-A c.1747G>A p.E583K Missense 11/21 - 3
4-55593683-G-C c.1749G>C p.E583D Missense 11/21 - 1
4-55593683-G-T c.1749G>T p.E583D Missense 11/21 - 1
4-55593684-T-C c.1750T>C p.F584L Missense 11/21 - 5
4-55593684-TT-AA c.1750_1751inv p.F584N Missense 11/21 - 1
4-55593686-T-A c.1752T>A p.F584L Missense 11/21 - 5
4-55593686-T-G c.1752T>G p.F584L Missense 11/21 - 5
4-55593685-T-C c.1751T>C p.F584S Missense 11/21 - 7
4-55593687-C-T c.1753C>T p.P585S Missense 11/21 - 1
4-55593649-A-ACCCAACACAACTTCCTTATGATCACAAATGGGAGTTTCCTGT c.1754_1755insTGTCCCAACACAACTTCCTTATGATCACAAATGGGAGTTTCC p.P585_R586insVPTQLPYDHKWEFP InFrameInsertion 11/21 - 1
4-55593688-C-T c.1754C>T p.P585L Missense 11/21 - 2
4-55593689-C-A c.1755C>A p.P585= Synonymous 11/21 - 8
4-55593689-CCAGAA-C c.1755_1759del p.R586Qfs*18 Frameshift 11/21 - 1
4-55593689-C-G c.1755C>G p.P585= Synonymous 11/21 - 8
4-55593689-C-T c.1755C>T p.P585= Synonymous 11/21 - 11
4-55593691-G-A c.1757G>A p.R586K Missense 11/21 - 1
4-55593696-AGG-TAT c.1762_1764delinsTAT p.R588Y Missense 11/21 - 1
4-55593696-AGG-TTT c.1762_1764delinsTTT p.R588F Missense 11/21 - 1
4-55593697-G-A c.1763G>A p.R588K Missense 11/21 - 1
4-55593697-G-T c.1763G>T p.R588M Missense 11/21 - 1
4-55593699-C-A c.1765C>A p.L589M Missense 11/21 - 1
4-55593700-T-C c.1766T>C p.L589P Missense 11/21 - 1
4-55593703-G-A c.1769G>A p.S590N Missense 11/21 - 1
4-55593703-G-C c.1769G>C p.S590T Missense 11/21 - 1
4-55593703-G-T c.1769G>T p.S590I Missense 11/21 - 1
4-55593704-T-C c.1770T>C p.S590= Synonymous 11/21 - 1
4-55593705-T-C c.1771T>C p.F591L Missense 11/21 - 2
4-55593707-T-A c.1773T>A p.F591L Missense 11/21 - 2
4-55593707-T-G c.1773T>G p.F591L Missense 11/21 - 2
4-55593706-T-C c.1772T>C p.F591S Missense 11/21 - 1
4-55593720-A-G c.1774+12A>G - IntronicSNV - 11/20 1
4-55593728-T-C c.1774+20T>C - IntronicSNV - 11/20 1
4-55593738-A-G c.1774+30A>G - IntronicSNV - 11/20 1
4-55593750-A-G c.1774+42A>G - IntronicSNV - 11/20 1
4-55593752-A-G c.1774+44A>G - IntronicSNV - 11/20 1
4-55593754-A-G c.1774+46A>G - IntronicSNV - 11/20 1
4-55593858-G-C c.1775-131G>C - IntronicSNV - 11/20 1
4-55593995-C-T c.1781C>T p.T594I Missense 12/21 - 1
4-55594000-G-C c.1786G>C p.G596R Missense 12/21 - 2
4-55594007-G-A c.1793G>A p.G598E Missense 12/21 - 1
4-55594009-G-T c.1795G>T p.A599S Missense 12/21 - 1
4-55594013-T-A c.1799T>A p.F600Y Missense 12/21 - 2
4-55594014-C-T c.1800C>T p.F600= Synonymous 12/21 - 1
4-55594015-G-A c.1801G>A p.G601R Missense 12/21 - 2
4-55594015-G-C c.1801G>C p.G601R Missense 12/21 - 1
4-55594021-G-C c.1807G>C p.V603L Missense 12/21 - 1
4-55594022-T-A c.1808T>A p.V603D Missense 12/21 - 3
4-55594030-G-A c.1816G>A p.A606T Missense 12/21 - 1
4-55594034-C-T c.1820C>T p.T607I Missense 12/21 - 3
4-55594037-C-A c.1823C>A p.A608D Missense 12/21 - 2
4-55594043-G-A c.1829G>A p.G610D Missense 12/21 - 4
4-55594046-T-C c.1832T>C p.L611S Missense 12/21 - 1
4-55594049-T-C c.1835T>C p.I612T Missense 12/21 - 1
4-55594051-A-G c.1837A>G p.K613E Missense 12/21 - 1
4-55594055-C-G c.1841C>G p.S614* Nonsense 12/21 - 1
4-55594061-C-A c.1847C>A p.A616E Missense 12/21 - 1
4-55594063-G-A c.1849G>A p.A617T Missense 12/21 - 1
4-55594063-G-T c.1849G>T p.A617S Missense 12/21 - 2
4-55594064-C-T c.1850C>T p.A617V Missense 12/21 - 2
4-55594066-A-G c.1852A>G p.M618V Missense 12/21 - 1
4-55594068-G-A c.1854G>A p.M618I Missense 12/21 - 4
4-55594068-G-C c.1854G>C p.M618I Missense 12/21 - 2
4-55594068-G-T c.1854G>T p.M618I Missense 12/21 - 2
4-55594069-A-G c.1855A>G p.T619A Missense 12/21 - 1
4-55594075-G-A c.1861G>A p.A621T Missense 12/21 - 2
4-55594075-G-T c.1861G>T p.A621S Missense 12/21 - 1
4-55594076-C-A c.1862C>A p.A621D Missense 12/21 - 1
4-55594081-AA-GC c.1867_1868delinsGC p.K623A Missense 12/21 - 2
4-55594081-A-C c.1867A>C p.K623Q Missense 12/21 - 1
4-55594082-A-T c.1868A>T p.K623M Missense 12/21 - 2
4-55594093-C-A c.1879C>A p.P627T Missense 12/21 - 1
4-55594177-C-T c.1880C>T p.P627L Missense 13/21 - 3
4-55594178-G-A c.1881G>A p.P627= Synonymous 13/21 - 2
4-55594178-G-C c.1881G>C p.P627= Synonymous 13/21 - 2
4-55594178-G-T c.1881G>T p.P627= Synonymous 13/21 - 2
4-55594180-G-A c.1883G>A p.S628N Missense 13/21 - 3
4-55594183-C-G c.1886C>G p.A629G Missense 13/21 - 1
4-55594185-C-G c.1888C>G p.H630D Missense 13/21 - 1
4-55594185-C-T c.1888C>T p.H630Y Missense 13/21 - 1
4-55594190-G-C c.1893G>C p.L631F Missense 13/21 - 1
4-55594190-G-T c.1893G>T p.L631F Missense 13/21 - 1
4-55594192-C-T c.1895C>T p.T632I Missense 13/21 - 1
4-55594194-G-A c.1897G>A p.E633K Missense 13/21 - 1
4-55594196-A-G c.1899A>G p.E633= Synonymous 13/21 - 1
4-55594197-C-T c.1900C>T p.R634W Missense 13/21 - 16
4-55594198-G-A c.1901G>A p.R634Q Missense 13/21 - 5
4-55594199-G-GA c.1902_1903insA p.E635Rfs*6 Frameshift 13/21 - 1
4-55594200-G-A c.1903G>A p.E635K Missense 13/21 - 1
4-55594203-G-T c.1906G>T p.A636S Missense 13/21 - 1
4-55594204-C-T c.1907C>T p.A636V Missense 13/21 - 5
4-55594205-C-A c.1908C>A p.A636= Synonymous 13/21 - 1
4-55594205-C-G c.1908C>G p.A636= Synonymous 13/21 - 1
4-55594205-C-T c.1908C>T p.A636= Synonymous 13/21 - 1
4-55594206-C-T c.1909C>T p.L637F Missense 13/21 - 1
4-55594207-CT-C c.1910del p.L637Pfs*8 Frameshift 13/21 - 1
4-55594207-T-A c.1910T>A p.L637H Missense 13/21 - 2
4-55594208-C-G c.1911C>G p.L637= Synonymous 13/21 - 1
4-55594209-A-G c.1912A>G p.M638V Missense 13/21 - 1
4-55594211-G-A c.1914G>A p.M638I Missense 13/21 - 1
4-55594211-G-C c.1914G>C p.M638I Missense 13/21 - 2
4-55594211-G-T c.1914G>T p.M638I Missense 13/21 - 1
4-55594212-T-A c.1915T>A p.S639T Missense 13/21 - 1
4-55594212-T-C c.1915T>C p.S639P Missense 13/21 - 2
4-55594213-C-G c.1916C>G p.S639C Missense 13/21 - 1
4-55594214-T-C c.1917T>C p.S639= Synonymous 13/21 - 1
4-55594215-G-A c.1918G>A p.E640K Missense 13/21 - 1
4-55594217-A-T c.1920A>T p.E640D Missense 13/21 - 3
4-55594218-C-A c.1921C>A p.L641I Missense 13/21 - 1
4-55594219-T-A c.1922T>A p.L641H Missense 13/21 - 1
4-55594221-A-C c.1924A>C p.K642Q Missense 13/21 - 1
4-55594221-A-G c.1924A>G p.K642E Missense 13/21 - 235
4-55594222-A-C c.1925A>C p.K642T Missense 13/21 - 5
4-55594222-A-G c.1925A>G p.K642R Missense 13/21 - 2
4-55594220-C-CA c.1926dup p.V643Sfs*7 Frameshift 13/21 - 1
4-55594223-A-C c.1926A>C p.K642N Missense 13/21 - 2
4-55594223-A-G c.1926A>G p.K642= Synonymous 13/21 - 1
4-55594223-A-T c.1926A>T p.K642N Missense 13/21 - 2
4-55594225-T-C c.1928T>C p.V643A Missense 13/21 - 2
4-55594232-T-C c.1935T>C p.S645= Synonymous 13/21 - 1
4-55594233-T-C c.1936T>C p.Y646H Missense 13/21 - 2
4-55594233-T-G c.1936T>G p.Y646D Missense 13/21 - 1
4-55594234-A-G c.1937A>G p.Y646C Missense 13/21 - 1
4-55594236-C-T c.1939C>T p.L647F Missense 13/21 - 2
4-55594237-T-A c.1940T>A p.L647H Missense 13/21 - 1
4-55594239-G-T c.1942G>T p.G648C Missense 13/21 - 1
4-55594240-GT-AG c.1943_1944delinsAG p.G648E Missense 13/21 - 1
4-55594242-A-G c.1945A>G p.N649D Missense 13/21 - 1
4-55594243-A-G c.1946A>G p.N649S Missense 13/21 - 1
4-55594245-C-A c.1948C>A p.H650N Missense 13/21 - 1
4-55594245-C-T c.1948C>T p.H650Y Missense 13/21 - 1
4-55594247-C-T c.1950C>T p.H650= Synonymous 13/21 - 1
4-55594248-A-C c.1951A>C p.M651L Missense 13/21 - 1
4-55594248-A-G c.1951A>G p.M651V Missense 13/21 - 1
4-55594248-A-T c.1951A>T p.M651L Missense 13/21 - 2
4-55594248-AT-GG c.1951_1952delinsGG p.M651G Missense 13/21 - 1
4-55594250-G-A c.1953G>A p.M651I Missense 13/21 - 2
4-55594250-G-C c.1953G>C p.M651I Missense 13/21 - 1
4-55594250-G-T c.1953G>T p.M651I Missense 13/21 - 1
4-55594255-T-C c.1958T>C p.I653T Missense 13/21 - 1
4-55594257-G-A c.1960G>A p.V654M Missense 13/21 - 1
4-55594258-T-A c.1961T>A p.V654E Missense 13/21 - 1
4-55594258-T-C c.1961T>C p.V654A Missense 13/21 - 149
4-55594260-A-C c.1963A>C p.N655H Missense 13/21 - 1
4-55594261-A-C c.1964A>C p.N655T Missense 13/21 - 4
4-55594261-A-G c.1964A>G p.N655S Missense 13/21 - 3
4-55594262-T-A c.1965T>A p.N655K Missense 13/21 - 12
4-55594262-T-G c.1965T>G p.N655K Missense 13/21 - 15
4-55594266-C-T c.1969C>T p.L657F Missense 13/21 - 1
4-55594270-G-A c.1973G>A p.G658E Missense 13/21 - 1
4-55594274-C-A c.1977C>A p.A659= Synonymous 13/21 - 1
4-55594274-C-T c.1977C>T p.A659= Synonymous 13/21 - 1
4-55594276-TG-T c.1979del p.C660Sfs*20 Frameshift 13/21 - 1
4-55594277-C-T c.1980C>T p.C660= Synonymous 13/21 - 1
4-55594281-A-AC c.1984_1985insC p.I662Tfs*16 Frameshift 13/21 - 1
4-55594284-G-A c.1987G>A p.G663R Missense 13/21 - 1
4-55594284-G-C c.1987G>C p.G663R Missense 13/21 - 1
4-55594287-G-A c.1990G>A p.G664R Missense 13/21 - 4
4-55594287-G-C c.1990G>C p.G664R Missense 13/21 - 4
4-55595503-C-T c.1993C>T p.P665S Missense 14/21 - 1
4-55595506-AC-CT c.1996_1997delinsCT p.T666L Missense 14/21 - 1
4-55595507-C-T c.1997C>T p.T666I Missense 14/21 - 1
4-55595508-C-A c.1998C>A p.T666= Synonymous 14/21 - 1
4-55595510-T-G c.2000T>G p.L667R Missense 14/21 - 1
4-55595513-T-C c.2003T>C p.V668A Missense 14/21 - 1
4-55595518-A-C c.2008A>C p.T670P Missense 14/21 - 1
4-55595518-AC-GA c.2008_2009delinsGA p.T670E Missense 14/21 - 9
4-55595518-AC-GT c.2008_2009inv p.T670V Missense 14/21 - 1
4-55595518-AC-TA c.2008_2009delinsTA p.T670* Nonsense 14/21 - 1
4-55595518-A-G c.2008A>G p.T670A Missense 14/21 - 2
4-55595518-A-T c.2008A>T p.T670S Missense 14/21 - 1
4-55595519-CA-TGATC c.2009_2010delinsTGATC p.T670delinsMI MultiAAMissense 14/21 - 1
4-55595519-C-A c.2009C>A p.T670K Missense 14/21 - 2
4-55595519-C-G c.2009C>G p.T670R Missense 14/21 - 1
4-55595519-C-T c.2009C>T p.T670I Missense 14/21 - 135
4-55595525-A-C c.2015A>C p.Y672S Missense 14/21 - 1
4-55595525-A-G c.2015A>G p.Y672C Missense 14/21 - 1
4-55595527-T-C c.2017T>C p.C673R Missense 14/21 - 1
4-55595531-G-A c.2021G>A p.C674Y Missense 14/21 - 1
4-55595534-A-C c.2024A>C p.Y675S Missense 14/21 - 1
4-55595534-A-G c.2024A>G p.Y675C Missense 14/21 - 1
4-55595535-T-A c.2025T>A p.Y675* Nonsense 14/21 - 1
4-55595535-T-G c.2025T>G p.Y675* Nonsense 14/21 - 1
4-55595539-G-A c.2029G>A p.D677N Missense 14/21 - 1
4-55595547-G-C c.2037G>C p.L679F Missense 14/21 - 2
4-55595550-T-A c.2040T>A p.N680K Missense 14/21 - 1
4-55595550-T-G c.2040T>G p.N680K Missense 14/21 - 3
4-55595551-T-A c.2041T>A p.F681I Missense 14/21 - 2
4-55595551-T-C c.2041T>C p.F681L Missense 14/21 - 1
4-55595553-T-A c.2043T>A p.F681L Missense 14/21 - 1
4-55595553-T-G c.2043T>G p.F681L Missense 14/21 - 1
4-55595556-G-C c.2046G>C p.L682F Missense 14/21 - 1
4-55595557-A-G c.2047A>G p.R683G Missense 14/21 - 1
4-55595559-A-C c.2049A>C p.R683S Missense 14/21 - 1
4-55595559-A-T c.2049A>T p.R683S Missense 14/21 - 1
4-55595564-A-G c.2054A>G p.K685R Missense 14/21 - 1
4-55595565-A-G c.2055A>G p.K685= Synonymous 14/21 - 1
4-55595566-C-CA c.2056_2057insA p.R686Qfs*2 Frameshift 14/21 - 1
4-55595566-C-T c.2056C>T p.R686C Missense 14/21 - 1
4-55595567-G-A c.2057G>A p.R686H Missense 14/21 - 1
4-55595573-C-T c.2063C>T p.S688L Missense 14/21 - 1
4-55595582-G-A c.2072G>A p.C691Y Missense 14/21 - 2
4-55595585-C-T c.2075C>T p.S692L Missense 14/21 - 2
4-55595587-A-G c.2077A>G p.K693E Missense 14/21 - 1
4-55595593-G-A c.2083G>A p.E695K Missense 14/21 - 1
4-55595593-G-T c.2083G>T p.E695* Nonsense 14/21 - 1
4-55595594-A-G c.2084A>G p.E695G Missense 14/21 - 1
4-55595596-G-A c.2086G>A p.D696N Missense 14/21 - 2
4-55595596-GA-CG c.2086_2087delinsCG p.D696R Missense 14/21 - 1
4-55595597-A-G c.2087A>G p.D696G Missense 14/21 - 1
4-55595599-C-A c.2089C>A p.H697N Missense 14/21 - 1
4-55595599-C-G c.2089C>G p.H697D Missense 14/21 - 2
4-55595599-C-T c.2089C>T p.H697Y Missense 14/21 - 10
4-55595600-A-G c.2090A>G p.H697R Missense 14/21 - 1
4-55595615-T-A c.2105T>A p.L702H Missense 14/21 - 3
4-55595618-A-T c.2108A>T p.Y703F Missense 14/21 - 1
4-55595621-A-C c.2111A>C p.K704T Missense 14/21 - 1
4-55595622-G-A c.2112G>A p.K704= Synonymous 14/21 - 1
4-55595622-G-T c.2112G>T p.K704N Missense 14/21 - 1
4-55595623-GAAT-G c.2113_2115del p.N705del InFrameDeletion 14/21 - 1
4-55595626-C-T c.2116C>T p.L706F Missense 14/21 - 1
4-55595627-T-C c.2117T>C p.L706P Missense 14/21 - 1
4-55595632-C-A c.2122C>A p.H708N Missense 14/21 - 1
4-55595633-A-T c.2123A>T p.H708L Missense 14/21 - 1
4-55595635-T-G c.2125T>G p.S709A Missense 14/21 - 1
4-55595636-CA-TT c.2126_2127delinsTT p.S709F Missense 14/21 - 4
4-55595640-G-C c.2130G>C p.K710N Missense 14/21 - 1
4-55595640-G-T c.2130G>T p.K710N Missense 14/21 - 1
4-55595641-G-T c.2131G>T p.E711* Nonsense 14/21 - 1
4-55595648-C-T c.2138C>T p.S713F Missense 14/21 - 1
4-55597451-A-G c.2142-43A>G - IntronicSNV - 14/20 1
4-55597458-A-G c.2142-36A>G - IntronicSNV - 14/20 1
4-55597490-CCAG-C c.2143_2145del p.S715del InFrameDeletion 15/21 - 2
4-55597495-A-G c.2143A>G p.S715G Missense 15/21 - 1
4-55597495-AG-TT c.2143_2144delinsTT p.S715F Missense 15/21 - 1
4-55597496-G-A c.2144G>A p.S715N Missense 15/21 - 1
4-55597498-G-A c.2146G>A p.D716N Missense 15/21 - 2
4-55597499-A-G c.2147A>G p.D716G Missense 15/21 - 1
4-55597501-A-G c.2149A>G p.S717G Missense 15/21 - 1
4-55597505-C-G c.2153C>G p.T718S Missense 15/21 - 1
4-55597506-T-C c.2154T>C p.T718= Synonymous 15/21 - 1
4-55597510-G-A c.2158G>A p.E720K Missense 15/21 - 1
4-55597510-G-T c.2158G>T p.E720* Nonsense 15/21 - 1
4-55597513-T-C c.2161T>C p.Y721H Missense 15/21 - 1
4-55597514-A-G c.2162A>G p.Y721C Missense 15/21 - 2
4-55597516-A-G c.2164A>G p.M722V Missense 15/21 - 2
4-55597517-T-C c.2165T>C p.M722T Missense 15/21 - 1
4-55597518-G-A c.2166G>A p.M722I Missense 15/21 - 1
4-55597518-G-C c.2166G>C p.M722I Missense 15/21 - 1
4-55597518-G-T c.2166G>T p.M722I Missense 15/21 - 1
4-55597522-A-G c.2170A>G p.M724V Missense 15/21 - 1
4-55597524-G-A c.2172G>A p.M724I Missense 15/21 - 1
4-55597524-G-C c.2172G>C p.M724I Missense 15/21 - 1
4-55597524-G-T c.2172G>T p.M724I Missense 15/21 - 1
4-55597527-A-G c.2175A>G p.K725= Synonymous 15/21 - 1
4-55597532-G-T c.2180G>T p.G727V Missense 15/21 - 1
4-55597544-T-A c.2192T>A p.V731D Missense 15/21 - 1
4-55597544-T-G c.2192T>G p.V731G Missense 15/21 - 1
4-55597547-T-C c.2195T>C p.V732A Missense 15/21 - 1
4-55597552-A-G c.2200A>G p.T734A Missense 15/21 - 1
4-55597558-G-A c.2206G>A p.A736T Missense 15/21 - 1
4-55597559-C-T c.2207C>T p.A736V Missense 15/21 - 1
4-55597561-G-A c.2209G>A p.D737N Missense 15/21 - 3
4-55597568-G-A c.2216G>A p.R739K Missense 15/21 - 2
4-55597571-G-A c.2219G>A p.R740K Missense 15/21 - 1
4-55598037-G-C c.2234G>C p.G745A Missense 16/21 - 1
4-55598038-C-A c.2235C>A p.G745= Synonymous 16/21 - 1
4-55598038-C-G c.2235C>G p.G745= Synonymous 16/21 - 1
4-55598038-C-T c.2235C>T p.G745= Synonymous 16/21 - 2
4-55598045-A-G c.2242A>G p.I748V Missense 16/21 - 1
4-55598046-T-C c.2243T>C p.I748T Missense 16/21 - 3
4-55598046-TAGA-T c.2245_2247del p.E749del InFrameDeletion 16/21 - 1
4-55598048-G-C c.2245G>C p.E749Q Missense 16/21 - 1
4-55598052-G-C c.2249G>C p.R750T Missense 16/21 - 1
4-55598054-G-A c.2251G>A p.D751N Missense 16/21 - 1
4-55598054-G-T c.2251G>T p.D751Y Missense 16/21 - 2
4-55598056-T-A c.2253T>A p.D751E Missense 16/21 - 1
4-55598061-C-A c.2258C>A p.T753N Missense 16/21 - 1
4-55598063-C-T c.2260C>T p.P754S Missense 16/21 - 1
4-55598066-G-A c.2263G>A p.A755T Missense 16/21 - 7
4-55598072-A-G c.2269A>G p.M757V Missense 16/21 - 1
4-55598081-G-A c.2278G>A p.D760N Missense 16/21 - 1
4-55598082-A-T c.2279A>T p.D760V Missense 16/21 - 1
4-55598084-G-A c.2281G>A p.E761K Missense 16/21 - 3
4-55598086-G-C c.2283G>C p.E761D Missense 16/21 - 1
4-55598086-G-T c.2283G>T p.E761D Missense 16/21 - 1
4-55598097-A-G c.2294A>G p.D765G Missense 16/21 - 1
4-55598100-T-C c.2297T>C p.L766S Missense 16/21 - 1
4-55598102-G-A c.2299G>A p.E767K Missense 16/21 - 1
4-55598102-G-T c.2299G>T p.E767* Nonsense 16/21 - 1
4-55598105-G-A c.2302G>A p.D768N Missense 16/21 - 1
4-55598117-T-G c.2314T>G p.F772V Missense 16/21 - 1
4-55598125-C-T c.2322C>T p.Y774= Synonymous 16/21 - 1
4-55598126-C-A c.2323C>A p.Q775K Missense 16/21 - 1
4-55598129-G-A c.2326G>A p.V776M Missense 16/21 - 1
4-55598132-G-A c.2329G>A p.A777T Missense 16/21 - 1
4-55598136-A-G c.2333A>G p.K778R Missense 16/21 - 1
4-55598137-G-C c.2334G>C p.K778N Missense 16/21 - 1
4-55598137-G-T c.2334G>T p.K778N Missense 16/21 - 1
4-55598143-G-A c.2340G>A p.M780I Missense 16/21 - 1
4-55598144-G-A c.2341G>A p.A781T Missense 16/21 - 1
4-55598145-C-T c.2342C>T p.A781V Missense 16/21 - 2
4-55598148-T-C c.2345T>C p.F782S Missense 16/21 - 1
4-55598150-C-A c.2347C>A p.L783I Missense 16/21 - 1
4-55598150-C-G c.2347C>G p.L783V Missense 16/21 - 2
4-55598153-G-A c.2350G>A p.A784T Missense 16/21 - 1
4-55598158-C-A c.2355C>A p.S785= Synonymous 16/21 - 1
4-55598158-C-G c.2355C>G p.S785= Synonymous 16/21 - 1
4-55598158-C-T c.2355C>T p.S785= Synonymous 16/21 - 1
4-55598161-G-C c.2358G>C p.K786N Missense 16/21 - 2
4-55598161-G-T c.2358G>T p.K786N Missense 16/21 - 2
4-55598162-A-G c.2359A>G p.N787D Missense 16/21 - 1
4-55598197-G-A c.2361+33G>A - IntronicSNV - 16/20 1
4-55598197-G-T c.2361+33G>T - IntronicSNV - 16/20 1
4-55598202-G-T c.2361+38G>T - IntronicSNV - 16/20 1
4-55598210-G-GTTTTTTTTTT c.2361+46_2361+47insTTTTTTTTTT - IntronicInsertion - 16/20 1
4-55598210-G-GTTTTTTTTTTTTT c.2361+46_2361+47insTTTTTTTTTTTTT - IntronicInsertion - 16/20 1
4-55598210-G-GTTTTTTTTTTTTTT c.2361+46_2361+47insTTTTTTTTTTTTTT - IntronicInsertion - 16/20 1
4-55598210-G-T c.2361+46G>T - IntronicSNV - 16/20 1
4-55599159-G-A c.2362-77G>A - IntronicSNV - 16/20 1
4-55599237-G-A c.2363G>A p.C788Y Missense 17/21 - 2
4-55599238-T-C c.2364T>C p.C788= Synonymous 17/21 - 1
4-55599239-A-T c.2365A>T p.I789F Missense 17/21 - 1
4-55599241-T-A c.2367T>A p.I789= Synonymous 17/21 - 1
4-55599241-T-C c.2367T>C p.I789= Synonymous 17/21 - 1
4-55599242-C-T c.2368C>T p.H790Y Missense 17/21 - 1
4-55599243-A-G c.2369A>G p.H790R Missense 17/21 - 1
4-55599245-A-G c.2371A>G p.R791G Missense 17/21 - 4
4-55599250-C-A c.2376C>A p.D792E Missense 17/21 - 2
4-55599250-C-G c.2376C>G p.D792E Missense 17/21 - 2
4-55599252-T-C c.2378T>C p.L793S Missense 17/21 - 1
4-55599254-G-A c.2380G>A p.A794T Missense 17/21 - 2
4-55599260-A-G c.2386A>G p.R796G Missense 17/21 - 6
4-55599260-A-T c.2386A>T p.R796* Nonsense 17/21 - 2
4-55599261-G-A c.2387G>A p.R796K Missense 17/21 - 3
4-55599262-A-C c.2388A>C p.R796S Missense 17/21 - 1
4-55599262-A-T c.2388A>T p.R796S Missense 17/21 - 1
4-55599263-A-G c.2389A>G p.N797D Missense 17/21 - 1
4-55599266-A-T c.2392A>T p.I798F Missense 17/21 - 1
4-55599268-C-A c.2394C>A p.I798= Synonymous 17/21 - 8
4-55599268-C-T c.2394C>T p.I798= Synonymous 17/21 - 13
4-55599269-C-T c.2395C>T p.L799F Missense 17/21 - 1
4-55599276-C-T c.2402C>T p.T801I Missense 17/21 - 2
4-55599278-C-T c.2404C>T p.H802Y Missense 17/21 - 1
4-55599281-G-T c.2407G>T p.G803C Missense 17/21 - 1
4-55599284-C-G c.2410C>G p.R804G Missense 17/21 - 1
4-55599284-C-T c.2410C>T p.R804W Missense 17/21 - 3
4-55599285-G-A c.2411G>A p.R804Q Missense 17/21 - 5
4-55599287-A-G c.2413A>G p.I805V Missense 17/21 - 1
4-55599288-T-C c.2414T>C p.I805T Missense 17/21 - 1
4-55599291-C-A c.2417C>A p.T806K Missense 17/21 - 2
4-55599299-T-A c.2425T>A p.C809S Missense 17/21 - 1
4-55599299-T-C c.2425T>C p.C809R Missense 17/21 - 1
4-55599299-T-G c.2425T>G p.C809G Missense 17/21 - 8
4-55599300-G-C c.2426G>C p.C809S Missense 17/21 - 1
4-55599301-T-A c.2427T>A p.C809* Nonsense 17/21 - 1
4-55599301-T-C c.2427T>C p.C809= Synonymous 17/21 - 1
4-55599301-T-G c.2427T>G p.C809W Missense 17/21 - 1
4-55599302-G-C c.2428G>C p.D810H Missense 17/21 - 1
4-55599305-T-A c.2431T>A p.F811I Missense 17/21 - 1
4-55599305-T-G c.2431T>G p.F811V Missense 17/21 - 2
4-55599307-T-C c.2433T>C p.F811= Synonymous 17/21 - 2
4-55599309-G-A c.2435G>A p.G812D Missense 17/21 - 1
4-55599309-G-T c.2435G>T p.G812V Missense 17/21 - 4
4-55599311-C-A c.2437C>A p.L813I Missense 17/21 - 1
4-55599312-T-C c.2438T>C p.L813P Missense 17/21 - 1
4-55599312-T-G c.2438T>G p.L813R Missense 17/21 - 1
4-55599314-G-A c.2440G>A p.A814T Missense 17/21 - 1
4-55599314-GC-TG c.2440_2441delinsTG p.A814C Missense 17/21 - 1
4-55599314-G-T c.2440G>T p.A814S Missense 17/21 - 6
4-55599315-C-T c.2441C>T p.A814V Missense 17/21 - 3
4-55599316-C-A c.2442C>A p.A814= Synonymous 17/21 - 1
4-55599316-C-G c.2442C>G p.A814= Synonymous 17/21 - 1
4-55599316-C-T c.2442C>T p.A814= Synonymous 17/21 - 1
4-55599317-AGA-TGG c.2443_2445delinsTGG p.R815W Missense 17/21 - 1
4-55599318-G-A c.2444G>A p.R815K Missense 17/21 - 5
4-55599318-G-T c.2444G>T p.R815I Missense 17/21 - 1
4-55599319-A-C c.2445A>C p.R815S Missense 17/21 - 1
4-55599319-AGACA-GTTAC c.2445_2449delinsGTTAC p.D816_I817delinsLL MultiAAMissense 17/21 - 1
4-55599319-A-T c.2445A>T p.R815S Missense 17/21 - 1
4-55599320-AGAC-A c.2446_2448del p.D816del InFrameDeletion 17/21 - 1
4-55599320-G-A c.2446G>A p.D816N Missense 17/21 - 9
4-55599320-GA-AC c.2446_2447delinsAC p.D816T Missense 17/21 - 1
4-55599320-GA-AT c.2446_2447delinsAT p.D816I Missense 17/21 - 14
4-55599320-GAC-ATG c.2446_2448delinsATG p.D816M Missense 17/21 - 1
4-55599320-GA-CG c.2446_2447delinsCG p.D816R Missense 17/21 - 1
4-55599320-GA-CT c.2446_2447delinsCT p.D816L Missense 17/21 - 2
4-55599320-GAC-TAA c.2446_2448delinsTAA p.D816* Nonsense 17/21 - 3
4-55599320-GA-TT c.2446_2447delinsTT p.D816F Missense 17/21 - 29
4-55599320-G-C c.2446G>C p.D816H Missense 17/21 - 166
4-55599320-G-T c.2446G>T p.D816Y Missense 17/21 - 115
4-55599321-A-C c.2447A>C p.D816A Missense 17/21 - 18
4-55599321-A-G c.2447A>G p.D816G Missense 17/21 - 23
4-55599321-A-T c.2447A>T p.D816V Missense 17/21 - 917
4-55599322-C-A c.2448C>A p.D816E Missense 17/21 - 17
4-55599322-C-G c.2448C>G p.D816E Missense 17/21 - 18
4-55599323-A-C c.2449A>C p.I817L Missense 17/21 - 3
4-55599323-A-G c.2449A>G p.I817V Missense 17/21 - 4
4-55599323-A-T c.2449A>T p.I817F Missense 17/21 - 2
4-55599324-T-C c.2450T>C p.I817T Missense 17/21 - 1
4-55599325-C-G c.2451C>G p.I817M Missense 17/21 - 1
4-55599326-A-G c.2452A>G p.K818E Missense 17/21 - 2
4-55599326-A-T c.2452A>T p.K818* Nonsense 17/21 - 1
4-55599327-A-G c.2453A>G p.K818R Missense 17/21 - 7
4-55599326-AAGAATG-A c.2454_2459del p.K818_D820delinsN MultiAAMissense 17/21 - 1
4-55599330-A-G c.2456A>G p.N819S Missense 17/21 - 1
4-55599332-G-A c.2458G>A p.D820N Missense 17/21 - 3
4-55599332-GAT-AAG c.2458_2460delinsAAG p.D820K Missense 17/21 - 1
4-55599332-G-C c.2458G>C p.D820H Missense 17/21 - 4
4-55599332-G-T c.2458G>T p.D820Y Missense 17/21 - 89
4-55599333-A-C c.2459A>C p.D820A Missense 17/21 - 59
4-55599333-A-G c.2459A>G p.D820G Missense 17/21 - 61
4-55599333-A-T c.2459A>T p.D820V Missense 17/21 - 13
4-55599334-T-A c.2460T>A p.D820E Missense 17/21 - 30
4-55599334-T-G c.2460T>G p.D820E Missense 17/21 - 19
4-55599336-C-A c.2462C>A p.S821Y Missense 17/21 - 1
4-55599336-C-T c.2462C>T p.S821F Missense 17/21 - 5
4-55599338-AA-CT c.2464_2465delinsCT p.N822L Missense 17/21 - 1
4-55599338-AA-GT c.2464_2465delinsGT p.N822V Missense 17/21 - 1
4-55599338-A-C c.2464A>C p.N822H Missense 17/21 - 12
4-55599338-A-G c.2464A>G p.N822D Missense 17/21 - 2
4-55599338-A-T c.2464A>T p.N822Y Missense 17/21 - 30
4-55599338-A-TTTT c.2464delinsTTTT p.N822delinsFY MultiAAMissense 17/21 - 1
4-55599339-A-C c.2465A>C p.N822T Missense 17/21 - 2
4-55599339-A-G c.2465A>G p.N822S Missense 17/21 - 1
4-55599339-A-T c.2465A>T p.N822I Missense 17/21 - 19
4-55599339-AT-GG c.2465_2466delinsGG p.N822R Missense 17/21 - 1
4-55599340-T-A c.2466T>A p.N822K Missense 17/21 - 171
4-55599340-T-G c.2466T>G p.N822K Missense 17/21 - 163
4-55599341-T-A c.2467T>A p.Y823N Missense 17/21 - 4
4-55599341-TA-GC c.2467_2468delinsGC p.Y823A Missense 17/21 - 1
4-55599341-T-C c.2467T>C p.Y823H Missense 17/21 - 1
4-55599341-T-G c.2467T>G p.Y823D Missense 17/21 - 66
4-55599342-A-C c.2468A>C p.Y823S Missense 17/21 - 1
4-55599342-A-G c.2468A>G p.Y823C Missense 17/21 - 5
4-55599342-A-T c.2468A>T p.Y823F Missense 17/21 - 5
4-55599344-G-C c.2470G>C p.V824L Missense 17/21 - 1
4-55599345-T-G c.2471T>G p.V824G Missense 17/21 - 1
4-55599346-G-A c.2472G>A p.V824= Synonymous 17/21 - 8
4-55599346-G-C c.2472G>C p.V824= Synonymous 17/21 - 8
4-55599346-G-T c.2472G>T p.V824= Synonymous 17/21 - 8
4-55599347-G-A c.2473G>A p.V825I Missense 17/21 - 4
4-55599347-G-C c.2473G>C p.V825L Missense 17/21 - 1
4-55599348-T-C c.2474T>C p.V825A Missense 17/21 - 17
4-55599348-T-G c.2474T>G p.V825G Missense 17/21 - 1
4-55599351-A-G c.2477A>G p.K826R Missense 17/21 - 1
4-55599352-A-C c.2478A>C p.K826N Missense 17/21 - 1
4-55599352-A-T c.2478A>T p.K826N Missense 17/21 - 1
4-55599353-G-T c.2479G>T p.G827* Nonsense 17/21 - 1
4-55599357-A-G c.2483A>G p.N828S Missense 17/21 - 1
4-55599358-C-A c.2484C>A p.N828K Missense 17/21 - 1
4-55599358-C-G c.2484C>G p.N828K Missense 17/21 - 1
4-55599358-C-T c.2484C>T p.N828= Synonymous 17/21 - 3
4-55599359-G-A c.2484+1G>A - IntronicSNV - 17/20 1
4-55599363-G-T c.2484+5G>T - IntronicSNV - 17/20 1
4-55599436-T-C c.2484+78T>C - IntronicSNV - 17/20 4
4-55602664-G-A c.2485G>A p.A829T Missense 18/21 - 2
4-55602664-G-C c.2485G>C p.A829P Missense 18/21 - 50
4-55602664-G-T c.2485G>T p.A829S Missense 18/21 - 1
4-55602665-C-G c.2486C>G p.A829G Missense 18/21 - 1
4-55602666-T-A c.2487T>A p.A829= Synonymous 18/21 - 1
4-55602667-C-T c.2488C>T p.R830* Nonsense 18/21 - 2
4-55602668-G-A c.2489G>A p.R830Q Missense 18/21 - 1
4-55602671-T-C c.2492T>C p.L831P Missense 18/21 - 1
4-55602673-C-T c.2494C>T p.P832S Missense 18/21 - 3
4-55602674-C-T c.2495C>T p.P832L Missense 18/21 - 1
4-55602676-G-A c.2497G>A p.V833M Missense 18/21 - 1
4-55602680-A-T c.2501A>T p.K834M Missense 18/21 - 1
4-55602686-T-C c.2507T>C p.M836T Missense 18/21 - 1
4-55602688-G-A c.2509G>A p.A837T Missense 18/21 - 1
4-55602689-C-T c.2510C>T p.A837V Missense 18/21 - 1
4-55602691-C-T c.2512C>T p.P838S Missense 18/21 - 2
4-55602692-C-T c.2513C>T p.P838L Missense 18/21 - 2
4-55602694-G-A c.2515G>A p.E839K Missense 18/21 - 25
4-55602698-G-A c.2519G>A p.S840N Missense 18/21 - 3
4-55602700-A-G c.2521A>G p.I841V Missense 18/21 - 2
4-55602701-T-C c.2522T>C p.I841T Missense 18/21 - 1
4-55602702-T-C c.2523T>C p.I841= Synonymous 18/21 - 1
4-55602701-TTTTCAACTG-T c.2524_2532del p.F842_C844del InFrameDeletion 18/21 - 1
4-55602710-G-A c.2531G>A p.C844Y Missense 18/21 - 2
4-55602711-T-C c.2532T>C p.C844= Synonymous 18/21 - 1
4-55602713-TATACACGTT-C c.2534_2543delinsC p.V845_F848delinsA MultiAAMissense 18/21 - 1
4-55602719-C-T c.2540C>T p.T847M Missense 18/21 - 5
4-55602720-CGTTTGAAAGTGACGTCTGGTCCTATGGGATTTTTCTTTGGG-C c.2541_2581del p.F848Afs*17 Frameshift 18/21 - 1
4-55602720-G-T c.2541G>T p.T847= Synonymous 18/21 - 1
4-55602728-G-T c.2549G>T p.S850I Missense 18/21 - 1
4-55602730-G-T c.2551G>T p.D851Y Missense 18/21 - 1
4-55602733-G-A c.2554G>A p.V852I Missense 18/21 - 4
4-55602734-T-C c.2555T>C p.V852A Missense 18/21 - 1
4-55602734-T-G c.2555T>G p.V852G Missense 18/21 - 1
4-55602737-G-A c.2558G>A p.W853* Nonsense 18/21 - 2
4-55602740-C-T c.2561C>T p.S854F Missense 18/21 - 2
4-55602741-C-A c.2562C>A p.S854= Synonymous 18/21 - 1
4-55602741-C-G c.2562C>G p.S854= Synonymous 18/21 - 1
4-55602741-C-T c.2562C>T p.S854= Synonymous 18/21 - 1
4-55602749-T-G c.2570T>G p.I857S Missense 18/21 - 1
4-55602751-T-C c.2572T>C p.F858L Missense 18/21 - 2
4-55602753-T-A c.2574T>A p.F858L Missense 18/21 - 2
4-55602753-T-G c.2574T>G p.F858L Missense 18/21 - 2
4-55602752-T-C c.2573T>C p.F858S Missense 18/21 - 2
4-55602755-T-C c.2576T>C p.L859P Missense 18/21 - 1
4-55602761-A-G c.2582A>G p.E861G Missense 18/21 - 1
4-55602763-C-G c.2584C>G p.L862V Missense 18/21 - 1
4-55602764-T-C c.2585T>C p.L862P Missense 18/21 - 1
4-55602763-C-T c.2584C>T p.L862= Synonymous 18/21 - 6
4-55602765-G-A c.2586G>A p.L862= Synonymous 18/21 - 6
4-55602765-G-C c.2586G>C p.L862= Synonymous 18/21 - 18
4-55602765-G-T c.2586G>T p.L862= Synonymous 18/21 - 6
4-55602766-T-C c.2587T>C p.F863L Missense 18/21 - 1
4-55602770-CT-C c.2594del p.L865* Frameshift 18/21 - 1
4-55602774-A-G c.2595A>G p.L865= Synonymous 18/21 - 1
4-55602776-G-A c.2596+1G>A - IntronicSNV - 18/20 1
4-55602777-T-C c.2596+2T>C - IntronicSNV - 18/20 1
4-55602795-A-G c.2596+20A>G - IntronicSNV - 18/20 1
4-55602799-A-G c.2596+24A>G - IntronicSNV - 18/20 1
4-55602887-G-A c.2597G>A p.G866E Missense 19/21 - 2
4-55602887-G-C c.2597G>C p.G866A Missense 19/21 - 1
4-55602890-G-A c.2600G>A p.S867N Missense 19/21 - 1
4-55602891-C-T c.2601C>T p.S867= Synonymous 19/21 - 1
4-55602896-C-T c.2606C>T p.P869L Missense 19/21 - 2
4-55602902-C-G c.2612C>G p.P871R Missense 19/21 - 1
4-55602910-C-T c.2620C>T p.P874S Missense 19/21 - 1
4-55602911-C-T c.2621C>T p.P874L Missense 19/21 - 1
4-55602925-T-C c.2635T>C p.F879L Missense 19/21 - 1
4-55602927-C-A c.2637C>A p.F879L Missense 19/21 - 1
4-55602927-C-G c.2637C>G p.F879L Missense 19/21 - 1
4-55602936-G-A c.2646G>A p.M882I Missense 19/21 - 3
4-55602936-G-C c.2646G>C p.M882I Missense 19/21 - 3
4-55602936-G-T c.2646G>T p.M882I Missense 19/21 - 3
4-55602938-T-C c.2648T>C p.I883T Missense 19/21 - 1
4-55602940-A-G c.2650A>G p.K884E Missense 19/21 - 1
4-55602946-G-T c.2656G>T p.G886C Missense 19/21 - 1
4-55602951-C-T c.2661C>T p.F887= Synonymous 19/21 - 1
4-55602952-C-T c.2662C>T p.R888W Missense 19/21 - 3
4-55602953-G-A c.2663G>A p.R888Q Missense 19/21 - 3
4-55602960-C-A c.2670C>A p.L890= Synonymous 19/21 - 1
4-55602960-C-G c.2670C>G p.L890= Synonymous 19/21 - 1
4-55602960-C-T c.2670C>T p.L890= Synonymous 19/21 - 1
4-55602961-AG-GC c.2671_2672delinsGC p.S891A Missense 19/21 - 2
4-55602972-C-T c.2682C>T p.H894= Synonymous 19/21 - 2
4-55602973-G-A c.2683G>A p.A895T Missense 19/21 - 2
4-55602982-G-A c.2692G>A p.E898K Missense 19/21 - 1
4-55603044-G-A c.2696+58G>A - IntronicSNV - 19/20 1
4-55603341-G-A c.2697G>A p.M899I Missense 20/21 - 2
4-55603354-A-G c.2710A>G p.K904E Missense 20/21 - 1
4-55603360-T-C c.2716T>C p.C906R Missense 20/21 - 1
4-55603366-G-A c.2722G>A p.D908N Missense 20/21 - 1
4-55603372-G-C c.2728G>C p.D910H Missense 20/21 - 1
4-55603372-G-T c.2728G>T p.D910Y Missense 20/21 - 1
4-55603373-A-C c.2729A>C p.D910A Missense 20/21 - 4
4-55603373-A-G c.2729A>G p.D910G Missense 20/21 - 1
4-55603376-C-T c.2732C>T p.P911L Missense 20/21 - 1
4-55603384-A-C c.2740A>C p.R914= Synonymous 20/21 - 1
4-55603386-A-G c.2742A>G p.R914= Synonymous 20/21 - 1
4-55603388-C-A c.2744C>A p.P915Q Missense 20/21 - 1
4-55603390-A-G c.2746A>G p.T916A Missense 20/21 - 1
4-55603411-C-G c.2767C>G p.L923V Missense 20/21 - 1
4-55603412-T-C c.2768T>C p.L923P Missense 20/21 - 1
4-55603414-A-G c.2770A>G p.I924V Missense 20/21 - 1
4-55603415-T-C c.2771T>C p.I924T Missense 20/21 - 1
4-55603434-G-C c.2790G>C p.E930D Missense 20/21 - 1
4-55603434-G-T c.2790G>T p.E930D Missense 20/21 - 1
4-55603440-C-CT c.2796_2797insT p.N933* Nonsense 20/21 - 1
4-55603449-G-A c.2802+3G>A - IntronicSNV - 20/20 1
4-55604614-A-G c.2822A>G p.N941S Missense 21/21 - 1
4-55604620-G-T c.2828G>T p.S943I Missense 21/21 - 1
4-55604621-C-T c.2829C>T p.S943= Synonymous 21/21 - 1
4-55604622-C-A c.2830C>A p.P944T Missense 21/21 - 1
4-55604623-C-T c.2831C>T p.P944L Missense 21/21 - 3
4-55604627-C-G c.2835C>G p.N945K Missense 21/21 - 1
4-55604627-C-T c.2835C>T p.N945= Synonymous 21/21 - 1
4-55604628-C-T c.2836C>T p.R946* Nonsense 21/21 - 6
4-55604629-G-A c.2837G>A p.R946Q Missense 21/21 - 3
4-55604629-G-C c.2837G>C p.R946P Missense 21/21 - 1
4-55604631-C-T c.2839C>T p.Q947* Nonsense 21/21 - 1
4-55604631-CAG-C c.2841_2842del p.K948Afs*100 Frameshift 21/21 - 1
4-55604635-A-C c.2843A>C p.K948T Missense 21/21 - 1
4-55604638-C-T c.2846C>T p.P949L Missense 21/21 - 2
4-55604640-G-A c.2848G>A p.V950M Missense 21/21 - 2
4-55604641-T-A c.2849T>A p.V950E Missense 21/21 - 1
4-55604643-G-A c.2851G>A p.V951I Missense 21/21 - 1
4-55604644-T-C c.2852T>C p.V951A Missense 21/21 - 1
4-55604658-C-T c.2866C>T p.R956W Missense 21/21 - 5
4-55604659-G-A c.2867G>A p.R956Q Missense 21/21 - 5
4-55604659-G-T c.2867G>T p.R956L Missense 21/21 - 1
4-55604662-T-C c.2870T>C p.I957T Missense 21/21 - 1
4-55604668-C-T c.2876C>T p.S959F Missense 21/21 - 2
4-55604673-G-A c.2881G>A p.G961S Missense 21/21 - 4
4-55604676-AG-TA c.2884_2885delinsTA p.S962Y Missense 21/21 - 1
4-55604677-G-A c.2885G>A p.S962N Missense 21/21 - 1
4-55604682-G-A c.2890G>A p.A964T Missense 21/21 - 5
4-55604686-C-T c.2894C>T p.S965F Missense 21/21 - 1
4-55604689-C-A c.2897C>A p.S966Y Missense 21/21 - 1
4-55604692-C-A c.2900C>A p.S967Y Missense 21/21 - 1
4-55604692-C-T c.2900C>T p.S967F Missense 21/21 - 1
4-55604697-C-T c.2905C>T p.P969S Missense 21/21 - 1
4-55604698-C-T c.2906C>T p.P969L Missense 21/21 - 2
4-55604706-G-A c.2914G>A p.V972M Missense 21/21 - 1
4-55604709-C-A c.2917C>A p.H973N Missense 21/21 - 1
4-55604710-A-G c.2918A>G p.H973R Missense 21/21 - 1
4-55604712-G-A c.2920G>A p.D974N Missense 21/21 - 1
4-55604714-C-T c.2922C>T p.D974= Synonymous 21/21 - 1
4-55604715-G-A c.2923G>A p.D975N Missense 21/21 - 1
4-55604940-G-A c.*217G>A - 3-UTRSNV 21/21 - 15
4-55606247-A-G c.*1524A>G - 3-UTRSNV 21/21 - 1