KCNQ1 potassium voltage-gated channel subfamily Q member 1

Annotation transcript: NM_000218.3

1607 unique variant annotations were identified in 1477 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
11-2466289-G-A c.-40G>A - 5-UTRSNV 1/16 - 1
11-2466329-A-G c.1A>G p.M1? Missense 1/16 - 1
11-2466347-C-T c.19C>T p.P7S Missense 1/16 - 2
11-2466351-C-T c.23C>T p.P8L Missense 1/16 - 1
11-2466358-C-A c.30C>A p.A10= Synonymous 1/16 - 1
11-2466358-C-G c.30C>G p.A10= Synonymous 1/16 - 1
11-2466358-C-T c.30C>T p.A10= Synonymous 1/16 - 1
11-2466359-G-A c.31G>A p.E11K Missense 1/16 - 1
11-2466362-AG-GC c.34_35delinsGC p.R12A Missense 1/16 - 1
11-2466365-AA-GC c.37_38delinsGC p.K13A Missense 1/16 - 3
11-2466366-A-G c.38A>G p.K13R Missense 1/16 - 1
11-2466368-CG-GC c.40_41delinsGC p.R14A Missense 1/16 - 1
11-2466368-C-T c.40C>T p.R14C Missense 1/16 - 14
11-2466368-GCGC-G c.40_42del p.R14del InFrameDeletion 1/16 - 3
11-2466372-G-A c.44G>A p.W15* Nonsense 1/16 - 1
11-2466372-GG-AT c.44_45delinsAT p.W15Y Missense 1/16 - 1
11-2466373-G-A c.45G>A p.W15* Nonsense 1/16 - 1
11-2466374-G-C c.46G>C p.G16R Missense 1/16 - 4
11-2466383-C-T c.55C>T p.R19C Missense 1/16 - 3
11-2466390-C-G c.62C>G p.P21R Missense 1/16 - 1
11-2466393-G-C c.65G>C p.G22A Missense 1/16 - 1
11-2466396-C-A c.68C>A p.A23D Missense 1/16 - 1
11-2466402-G-A c.74G>A p.R25Q Missense 1/16 - 1
11-2466405-G-A c.77G>A p.G26D Missense 1/16 - 1
11-2466407-AGC-GAG c.79_81delinsGAG p.S27E Missense 1/16 - 1
11-2466407-AG-GA c.79_80delinsGA p.S27D Missense 1/16 - 11
11-2466407-AG-GC c.79_80delinsGC p.S27A Missense 1/16 - 2
11-2466408-GC-AG c.80_81delinsAG p.S27K Missense 1/16 - 1
11-2466407-A-C c.79A>C p.S27R Missense 1/16 - 1
11-2466409-C-A c.81C>A p.S27R Missense 1/16 - 1
11-2466409-C-G c.81C>G p.S27R Missense 1/16 - 1
11-2466411-C-T c.83C>T p.A28V Missense 1/16 - 1
11-2466419-G-A c.91G>A p.A31T Missense 1/16 - 1
11-2466419-GC-TT c.91_92delinsTT p.A31F Missense 1/16 - 1
11-2466430-C-A c.102C>A p.C34* Nonsense 1/16 - 1
11-2466431-CC-GG c.103_104inv p.P35G Missense 1/16 - 2
11-2466434-T-G c.106T>G p.F36V Missense 1/16 - 1
11-2466433-CT-C c.107del p.F36Sfs*50 Frameshift 1/16 - 1
11-2466436-C-T c.108C>T p.F36= Synonymous 1/16 - 1
11-2466438-CG-GT c.110_111delinsGT p.S37C Missense 1/16 - 1
11-2466443-G-T c.115G>T p.E39* Nonsense 1/16 - 1
11-2466445-G-C c.117G>C p.E39D Missense 1/16 - 1
11-2466445-G-T c.117G>T p.E39D Missense 1/16 - 1
11-2466446-CTG-ATC c.118_120delinsATC p.L40I Missense 1/16 - 1
11-2466449-G-A c.121G>A p.A41T Missense 1/16 - 1
11-2466449-GCG-TTT c.121_123delinsTTT p.A41F Missense 1/16 - 2
11-2466464-G-A c.136G>A p.A46T Missense 1/16 - 6
11-2466468-G-A c.140G>A p.G47D Missense 1/16 - 1
11-2466468-G-T c.140G>T p.G47V Missense 1/16 - 1
11-2466474-C-G c.146C>G p.A49G Missense 1/16 - 1
11-2466474-CG-AC c.146_147delinsAC p.A49D Missense 1/16 - 1
11-2466478-C-CT c.151dup p.Y51Lfs*234 Frameshift 1/16 - 1
11-2466480-A-G c.152A>G p.Y51C Missense 1/16 - 1
11-2466481-C-A c.153C>A p.Y51* Nonsense 1/16 - 1
11-2466481-C-G c.153C>G p.Y51* Nonsense 1/16 - 2
11-2466486-C-G c.158C>G p.P53R Missense 1/16 - 1
11-2466488-A-AATCGCGCCC c.160_161insATCGCGCCC p.I54delinsNRAL MultiAAMissense 1/16 - 1
11-2466498-G-T c.170G>T p.G57V Missense 1/16 - 2
11-2466500-G-C c.172G>C p.A58P Missense 1/16 - 1
11-2466506-G-C c.178G>C p.G60R Missense 1/16 - 1
11-2466506-GGT-TGG c.178_180delinsTGG p.G60W Missense 1/16 - 1
11-2466512-G-A c.184G>A p.A62T Missense 1/16 - 1
11-2466516-C-A c.188C>A p.P63H Missense 1/16 - 1
11-2466514-GC-G c.191del p.P64Lfs*22 Frameshift 1/16 - 1
11-2466519-C-A c.191C>A p.P64H Missense 1/16 - 1
11-2466519-C-G c.191C>G p.P64R Missense 1/16 - 1
11-2466533-GCG-TGT c.205_207delinsTGT p.A69C Missense 1/16 - 1
11-2466533-G-T c.205G>T p.A69S Missense 1/16 - 1
11-2466536-C-A c.208C>A p.P70T Missense 1/16 - 1
11-2466540-CC-AG c.212_213delinsAG p.A71E Missense 1/16 - 1
11-2466541-C-A c.213C>A p.A71= Synonymous 1/16 - 1
11-2466541-C-G c.213C>G p.A71= Synonymous 1/16 - 1
11-2466541-C-T c.213C>T p.A71= Synonymous 1/16 - 1
11-2466544-G-A c.216G>A p.A72= Synonymous 1/16 - 1
11-2466545-C-A c.217C>A p.P73T Missense 1/16 - 6
11-2466546-C-T c.218C>T p.P73L Missense 1/16 - 1
11-2466549-C-T c.221C>T p.P74L Missense 1/16 - 1
11-2466551-G-A c.223G>A p.V75I Missense 1/16 - 1
11-2466551-G-C c.223G>C p.V75L Missense 1/16 - 1
11-2466559-C-G c.231C>G p.S77= Synonymous 1/16 - 1
11-2466560-G-A c.232G>A p.D78N Missense 1/16 - 1
11-2466566-G-A c.238G>A p.G80S Missense 1/16 - 1
11-2466572-C-T c.244C>T p.R82W Missense 1/16 - 1
11-2466581-G-A c.253G>A p.V85M Missense 1/16 - 1
11-2466587-C-T c.259C>T p.L87= Synonymous 1/16 - 1
11-2466590-G-A c.262G>A p.D88N Missense 1/16 - 1
11-2466598-GC-G c.270del p.V91Sfs*146 Frameshift 1/16 - 1
11-2466599-G-A c.271G>A p.V91I Missense 1/16 - 1
11-2466602-TC-GA c.274_275inv p.S92D Missense 1/16 - 1
11-2466602-T-G c.274T>G p.S92A Missense 1/16 - 1
11-2466605-CATCTACAGCACGCG-C c.277_290del p.I93Pfs*187 Frameshift 1/16 - 1
11-2466615-C-G c.287C>G p.T96R Missense 1/16 - 3
11-2466620-CGC-TGG c.292_294delinsTGG p.R98W Missense 1/16 - 1
11-2466620-CG-GC c.292_293delinsGC p.R98A Missense 1/16 - 1
11-2466624-C-G c.296C>G p.P99R Missense 1/16 - 1
11-2466624-C-T c.296C>T p.P99L Missense 1/16 - 1
11-2466625-G-A c.297G>A p.P99= Synonymous 1/16 - 1
11-2466625-G-C c.297G>C p.P99= Synonymous 1/16 - 1
11-2466625-G-T c.297G>T p.P99= Synonymous 1/16 - 1
11-2466626-GTG-ATC c.298_300delinsATC p.V100I Missense 1/16 - 2
11-2466632-G-T c.304G>T p.A102S Missense 1/16 - 2
11-2466633-C-T c.305C>T p.A102V Missense 1/16 - 1
11-2466638-A-T c.310A>T p.T104S Missense 1/16 - 1
11-2466639-C-G c.311C>G p.T104S Missense 1/16 - 1
11-2466639-C-T c.311C>T p.T104I Missense 1/16 - 4
11-2466641-C-A c.313C>A p.H105N Missense 1/16 - 2
11-2466641-C-T c.313C>T p.H105Y Missense 1/16 - 1
11-2466642-A-T c.314A>T p.H105L Missense 1/16 - 6
11-2466644-G-A c.316G>A p.V106I Missense 1/16 - 1
11-2466644-GTC-TGG c.316_318delinsTGG p.V106W Missense 1/16 - 1
11-2466647-C-T c.319C>T p.Q107* Nonsense 1/16 - 1
11-2466649-G-C c.321G>C p.Q107H Missense 1/16 - 4
11-2466649-G-T c.321G>T p.Q107H Missense 1/16 - 4
11-2466650-G-T c.322G>T p.G108C Missense 1/16 - 1
11-2466654-G-T c.326G>T p.R109L Missense 1/16 - 5
11-2466656-G-A c.328G>A p.V110I Missense 1/16 - 7
11-2466656-G-C c.328G>C p.V110L Missense 1/16 - 1
11-2466659-TA-GC c.331_332delinsGC p.Y111A Missense 1/16 - 1
11-2466660-A-G c.332A>G p.Y111C Missense 1/16 - 29
11-2466668-CT-TG c.340_341delinsTG p.L114C Missense 1/16 - 1
11-2466669-T-C c.341T>C p.L114P Missense 1/16 - 12
11-2466671-G-A c.343G>A p.E115K Missense 1/16 - 1
11-2466672-A-G c.344A>G p.E115G Missense 1/16 - 6
11-2466675-G-T c.347G>T p.R116L Missense 1/16 - 2
11-2466677-CC-TG c.349_350delinsTG p.P117C Missense 1/16 - 1
11-2466678-C-T c.350C>T p.P117L Missense 1/16 - 12
11-2466680-A-T c.352A>T p.T118S Missense 1/16 - 2
11-2466681-C-G c.353C>G p.T118S Missense 1/16 - 2
11-2466683-G-C c.355G>C p.G119R Missense 1/16 - 2
11-2466684-G-A c.356G>A p.G119D Missense 1/16 - 2
11-2466685-C-A c.357C>A p.G119= Synonymous 1/16 - 1
11-2466686-TG-GC c.358_359delinsGC p.W120A Missense 1/16 - 1
11-2466688-G-C c.360G>C p.W120C Missense 1/16 - 2
11-2466688-G-T c.360G>T p.W120C Missense 1/16 - 2
11-2466689-AAA-TGT c.361_363delinsTGT p.K121C Missense 1/16 - 1
11-2466689-A-C c.361A>C p.K121Q Missense 1/16 - 3
11-2466691-A-AT c.364dup p.C122Lfs*163 Frameshift 1/16 - 2
11-2466692-T-A c.364T>A p.C122S Missense 1/16 - 3
11-2466693-G-C c.365G>C p.C122S Missense 1/16 - 3
11-2466693-G-A c.365G>A p.C122Y Missense 1/16 - 5
11-2466695-TT-GC c.367_368delinsGC p.F123A Missense 1/16 - 1
11-2466696-T-G c.368T>G p.F123C Missense 1/16 - 2
11-2466698-G-A c.370G>A p.V124I Missense 1/16 - 1
11-2466701-T-G c.373T>G p.Y125D Missense 1/16 - 4
11-2466704-CA-GC c.376_377delinsGC p.H126A Missense 1/16 - 1
11-2466704-CA-TG c.376_377inv p.H126C Missense 1/16 - 1
11-2466705-A-T c.377A>T p.H126L Missense 1/16 - 5
11-2466707-T-C c.379T>C p.F127L Missense 1/16 - 7
11-2466707-T-G c.379T>G p.F127V Missense 1/16 - 1
11-2466707-TT-GC c.379_380delinsGC p.F127A Missense 1/16 - 1
11-2466709-C-A c.381C>A p.F127L Missense 1/16 - 7
11-2466709-C-G c.381C>G p.F127L Missense 1/16 - 7
11-2466710-G-A c.382G>A p.A128T Missense 1/16 - 1
11-2466713-G-A c.385G>A p.V129I Missense 1/16 - 6
11-2466713-GT-TG c.385_386delinsTG p.V129C Missense 1/16 - 1
11-2466714-T-C c.386T>C p.V129A Missense 1/16 - 1
11-2466715-G-C c.386+1G>C - IntronicSNV - 1/15 1
11-2466715-G-T c.386+1G>T - IntronicSNV - 1/15 1
11-2470750-C-T c.386+4036C>T - IntronicSNV - 1/15 1
11-2471542-A-G c.386+4828A>G - IntronicSNV - 1/15 2
11-2473131-G-A c.386+6417G>A - IntronicSNV - 1/15 2
11-2473311-T-C c.386+6597T>C - IntronicSNV - 1/15 1
11-2473456-G-A c.386+6742G>A - IntronicSNV - 1/15 2
11-2473980-G-A c.386+7266G>A - IntronicSNV - 1/15 1
11-2475150-A-G c.386+8436A>G - IntronicSNV - 1/15 1
11-2478519-G-A c.386+11805G>A - IntronicSNV - 1/15 1
11-2479195-C-T c.386+12481C>T - IntronicSNV - 1/15 4
11-2480701-C-A c.386+13987C>A - IntronicSNV - 1/15 1
11-2480701-C-G c.386+13987C>G - IntronicSNV - 1/15 1
11-2480701-C-T c.386+13987C>T - IntronicSNV - 1/15 1
11-2481140-T-C c.386+14426T>C - IntronicSNV - 1/15 1
11-2482092-C-T c.386+15378C>T - IntronicSNV - 1/15 2
11-2482918-C-T c.386+16204C>T - IntronicSNV - 1/15 1
11-2484803-T-A c.386+18089T>A - IntronicSNV - 1/15 23
11-2484803-T-C c.386+18089T>C - IntronicSNV - 1/15 23
11-2486120-T-G c.386+19406T>G - IntronicSNV - 1/15 2
11-2486550-C-T c.386+19836C>T - IntronicSNV - 1/15 5
11-2489342-C-T c.386+22628C>T - IntronicSNV - 1/15 17
11-2490560-C-A c.386+23846C>A - IntronicSNV - 1/15 1
11-2490560-C-T c.386+23846C>T - IntronicSNV - 1/15 1
11-2497501-C-T c.386+30787C>T - IntronicSNV - 1/15 2
11-2499178-G-A c.386+32464G>A - IntronicSNV - 1/15 5
11-2502319-C-T c.386+35605C>T - IntronicSNV - 1/15 13
11-2502326-G-A c.386+35612G>A - IntronicSNV - 1/15 1
11-2525395-G-A c.387-23763G>A - IntronicSNV - 1/15 2
11-2527306-G-C c.387-21852G>C - IntronicSNV - 1/15 1
11-2528003-C-T c.387-21155C>T - IntronicSNV - 1/15 1
11-2528733-C-G c.387-20425C>G - IntronicSNV - 1/15 1
11-2528733-C-T c.387-20425C>T - IntronicSNV - 1/15 1
11-2529035-G-A c.387-20123G>A - IntronicSNV - 1/15 1
11-2533209-G-A c.387-15949G>A - IntronicSNV - 1/15 1
11-2533291-C-T c.387-15867C>T - IntronicSNV - 1/15 1
11-2534262-C-T c.387-14896C>T - IntronicSNV - 1/15 1
11-2536525-G-A c.387-12633G>A - IntronicSNV - 1/15 1
11-2537748-G-A c.387-11410G>A - IntronicSNV - 1/15 1
11-2542553-G-A c.387-6605G>A - IntronicSNV - 1/15 1
11-2543017-C-T c.387-6141C>T - IntronicSNV - 1/15 1
11-2548175-C-T c.387-983C>T - IntronicSNV - 1/15 1
11-2549061-G-C c.387-97G>C - IntronicSNV - 1/15 1
11-2549153-T-A c.387-5T>A - IntronicSNV - 1/15 1
11-2549159-TT-GC c.388_389delinsGC p.F130A Missense 2/16 - 1
11-2549160-T-G c.389T>G p.F130C Missense 2/16 - 3
11-2549163-T-C c.392T>C p.L131P Missense 2/16 - 5
11-2549165-A-C c.394A>C p.I132L Missense 2/16 - 3
11-2549166-TC-GG c.395_396delinsGG p.I132R Missense 2/16 - 1
11-2549168-G-A c.397G>A p.V133I Missense 2/16 - 4
11-2549172-T-C c.401T>C p.L134P Missense 2/16 - 5
11-2549174-G-A c.403G>A p.V135I Missense 2/16 - 1
11-2549175-T-C c.404T>C p.V135A Missense 2/16 - 1
11-2549177-T-A c.406T>A p.C136S Missense 2/16 - 1
11-2549177-TG-GC c.406_407delinsGC p.C136A Missense 2/16 - 2
11-2549177-TG-GT c.406_407delinsGT p.C136V Missense 2/16 - 1
11-2549178-G-C c.407G>C p.C136S Missense 2/16 - 1
11-2549178-G-T c.407G>T p.C136F Missense 2/16 - 4
11-2549180-C-T c.409C>T p.L137F Missense 2/16 - 2
11-2549181-T-C c.410T>C p.L137P Missense 2/16 - 1
11-2549187-T-C c.416T>C p.F139S Missense 2/16 - 1
11-2549189-A-G c.418A>G p.S140G Missense 2/16 - 75
11-2549189-AG-CC c.418_419delinsCC p.S140P Missense 2/16 - 2
11-2549189-AGC-TGG c.418_420delinsTGG p.S140W Missense 2/16 - 1
11-2549189-AG-GA c.418_419delinsGA p.S140D Missense 2/16 - 1
11-2549189-AG-GC c.418_419delinsGC p.S140A Missense 2/16 - 1
11-2549189-A-T c.418A>T p.S140C Missense 2/16 - 3
11-2549189-A-C c.418A>C p.S140R Missense 2/16 - 2
11-2549191-C-A c.420C>A p.S140R Missense 2/16 - 2
11-2549191-C-G c.420C>G p.S140R Missense 2/16 - 2
11-2549192-G-A c.421G>A p.V141M Missense 2/16 - 47
11-2549192-G-C c.421G>C p.V141L Missense 2/16 - 1
11-2549192-G-T c.421G>T p.V141L Missense 2/16 - 1
11-2549192-GT-AC c.421_422inv p.V141T Missense 2/16 - 1
11-2549192-GTG-TGT c.421_423delinsTGT p.V141C Missense 2/16 - 5
11-2549192-GT-TG c.421_422delinsTG p.V141W Missense 2/16 - 1
11-2549193-T-C c.422T>C p.V141A Missense 2/16 - 1
11-2549193-T-G c.422T>G p.V141G Missense 2/16 - 1
11-2549193-TG-AC c.422_423delinsAC p.V141D Missense 2/16 - 1
11-2549195-CTG-TGT c.424_426delinsTGT p.L142C Missense 2/16 - 3
11-2549198-T-A c.427T>A p.S143T Missense 2/16 - 1
11-2549198-TC-CT c.427_428delinsCT p.S143L Missense 2/16 - 1
11-2549199-C-A c.428C>A p.S143Y Missense 2/16 - 1
11-2549199-C-G c.428C>G p.S143C Missense 2/16 - 3
11-2549199-C-T c.428C>T p.S143F Missense 2/16 - 1
11-2549201-AC-TG c.430_431delinsTG p.T144C Missense 2/16 - 5
11-2549201-A-G c.430A>G p.T144A Missense 2/16 - 5
11-2549204-AT-TG c.433_434delinsTG p.I145C Missense 2/16 - 8
11-2549206-C-A c.435C>A p.I145= Synonymous 2/16 - 1
11-2549206-C-T c.435C>T p.I145= Synonymous 2/16 - 3
11-2549207-G-A c.436G>A p.E146K Missense 2/16 - 10
11-2549207-GAG-TGT c.436_438delinsTGT p.E146C Missense 2/16 - 1
11-2549207-G-C c.436G>C p.E146Q Missense 2/16 - 1
11-2549208-A-G c.437A>G p.E146G Missense 2/16 - 3
11-2549209-G-C c.438G>C p.E146D Missense 2/16 - 1
11-2549209-G-T c.438G>T p.E146D Missense 2/16 - 1
11-2549210-CAG-TGT c.439_441delinsTGT p.Q147C Missense 2/16 - 6
11-2549211-A-G c.440A>G p.Q147R Missense 2/16 - 15
11-2549214-A-G c.443A>G p.Y148C Missense 2/16 - 1
11-2549214-TA-T c.443del p.Y148Lfs*89 Frameshift 2/16 - 1
11-2549215-T-A c.444T>A p.Y148* Nonsense 2/16 - 3
11-2549215-T-G c.444T>G p.Y148* Nonsense 2/16 - 3
11-2549216-GC-TG c.445_446delinsTG p.A149C Missense 2/16 - 1
11-2549217-C-T c.446C>T p.A149V Missense 2/16 - 2
11-2549219-G-A c.448G>A p.A150T Missense 2/16 - 3
11-2549219-GCC-AAG c.448_450delinsAAG p.A150K Missense 2/16 - 1
11-2549220-C-G c.449C>G p.A150G Missense 2/16 - 4
11-2549220-C-T c.449C>T p.A150V Missense 2/16 - 1
11-2549222-CTG-TGT c.451_453delinsTGT p.L151C Missense 2/16 - 1
11-2549229-C-T c.458C>T p.T153M Missense 2/16 - 3
11-2549234-AC-TG c.463_464delinsTG p.T155C Missense 2/16 - 1
11-2549237-CT-GG c.466_467delinsGG p.L156G Missense 2/16 - 1
11-2549241-T-A c.470T>A p.F157Y Missense 2/16 - 1
11-2549241-T-G c.470T>G p.F157C Missense 2/16 - 3
11-2549249-G-A c.477+1G>A - IntronicSNV - 2/15 5
11-2549253-G-A c.477+5G>A - IntronicSNV - 2/15 3
11-2549253-G-C c.477+5G>C - IntronicSNV - 2/15 1
11-2551363-G-A c.477+2115G>A - IntronicSNV - 2/15 1
11-2552769-G-A c.477+3521G>A - IntronicSNV - 2/15 2
11-2553553-G-A c.477+4305G>A - IntronicSNV - 2/15 1
11-2553560-T-C c.477+4312T>C - IntronicSNV - 2/15 1
11-2553601-C-A c.477+4353C>A - IntronicSNV - 2/15 1
11-2553703-G-A c.477+4455G>A - IntronicSNV - 2/15 2
11-2554149-A-G c.477+4901A>G - IntronicSNV - 2/15 2
11-2556255-T-C c.477+7007T>C - IntronicSNV - 2/15 1
11-2566118-A-G c.477+16870A>G - IntronicSNV - 2/15 1
11-2580063-G-A c.478-11795G>A - IntronicSNV - 2/15 1
11-2580212-A-G c.478-11646A>G - IntronicSNV - 2/15 1
11-2580299-T-A c.478-11559T>A - IntronicSNV - 2/15 1
11-2580299-T-C c.478-11559T>C - IntronicSNV - 2/15 1
11-2588006-A-G c.478-3852A>G - IntronicSNV - 2/15 1
11-2591839-T-TCAAGG c.478-18_478-17insAAGGC - IntronicInsertion - 2/15 1
11-2591858-G-A c.478G>A p.E160K Missense 3/16 - 12
11-2591858-GA-AG c.478_479delinsAG p.E160R Missense 3/16 - 15
11-2591858-GAG-TGT c.478_480delinsTGT p.E160C Missense 3/16 - 2
11-2591858-G-C c.478G>C p.E160Q Missense 3/16 - 3
11-2591859-A-C c.479A>C p.E160A Missense 3/16 - 4
11-2591859-A-T c.479A>T p.E160V Missense 3/16 - 2
11-2591864-G-A c.484G>A p.V162M Missense 3/16 - 3
11-2591868-CT-C c.488del p.L163Rfs*74 Frameshift 3/16 - 3
11-2591870-GTG-TGT c.490_492delinsTGT p.V164C Missense 3/16 - 1
11-2591873-GTG-TGT c.493_495delinsTGT p.V165C Missense 3/16 - 2
11-2591876-TTC-ATG c.496_498delinsATG p.F166M Missense 3/16 - 1
11-2591876-TT-GC c.496_497delinsGC p.F166A Missense 3/16 - 1
11-2591877-T-G c.497T>G p.F166C Missense 3/16 - 1
11-2591875-GTTC-G c.499_501del p.F167del InFrameDeletion 3/16 - 1
11-2591879-TT-CG c.499_500delinsCG p.F167R Missense 3/16 - 2
11-2591882-G-A c.502G>A p.G168R Missense 3/16 - 18
11-2591882-G-C c.502G>C p.G168R Missense 3/16 - 15
11-2591886-C-G c.506C>G p.T169R Missense 3/16 - 2
11-2591886-C-T c.506C>T p.T169M Missense 3/16 - 3
11-2591888-GA-AG c.508_509delinsAG p.E170R Missense 3/16 - 1
11-2591889-A-G c.509A>G p.E170G Missense 3/16 - 2
11-2591893-C-A c.513C>A p.Y171* Nonsense 3/16 - 9
11-2591893-C-G c.513C>G p.Y171* Nonsense 3/16 - 8
11-2591894-G-A c.514G>A p.V172M Missense 3/16 - 5
11-2591898-T-A c.518T>A p.V173D Missense 3/16 - 3
11-2591900-C-T c.520C>T p.R174C Missense 3/16 - 8
11-2591901-G-A c.521G>A p.R174H Missense 3/16 - 6
11-2591901-G-T c.521G>T p.R174L Missense 3/16 - 2
11-2591903-CT-GC c.523_524delinsGC p.L175A Missense 3/16 - 1
11-2591894-GTGGTCCGCCTC-G c.524_534del p.L175Rfs*106 Frameshift 3/16 - 1
11-2591906-T-A c.526T>A p.W176R Missense 3/16 - 5
11-2591906-T-C c.526T>C p.W176R Missense 3/16 - 5
11-2591907-G-A c.527G>A p.W176* Nonsense 3/16 - 1
11-2591908-G-A c.528G>A p.W176* Nonsense 3/16 - 1
11-2591912-G-A c.532G>A p.A178T Missense 3/16 - 5
11-2591912-G-C c.532G>C p.A178P Missense 3/16 - 1
11-2591915-G-A c.535G>A p.G179S Missense 3/16 - 12
11-2591915-G-T c.535G>T p.G179C Missense 3/16 - 1
11-2591916-G-C c.536G>C p.G179A Missense 3/16 - 1
11-2591918-T-A c.538T>A p.C180S Missense 3/16 - 2
11-2591918-TG-GC c.538_539delinsGC p.C180A Missense 3/16 - 1
11-2591919-G-C c.539G>C p.C180S Missense 3/16 - 2
11-2591921-CGC-GAG c.541_543delinsGAG p.R181E Missense 3/16 - 1
11-2591921-CG-GC c.541_542delinsGC p.R181A Missense 3/16 - 1
11-2591921-C-T c.541C>T p.R181C Missense 3/16 - 1
11-2591922-GC-AA c.542_543delinsAA p.R181Q Missense 3/16 - 2
11-2591924-AG-GA c.544_545delinsGA p.S182D Missense 3/16 - 1
11-2591924-AG-GC c.544_545delinsGC p.S182A Missense 3/16 - 1
11-2591925-GC-AG c.545_546delinsAG p.S182K Missense 3/16 - 1
11-2591927-AA-GC c.547_548delinsGC p.K183A Missense 3/16 - 1
11-2591927-AAG-TGT c.547_549delinsTGT p.K183C Missense 3/16 - 1
11-2591927-A-C c.547A>C p.K183Q Missense 3/16 - 1
11-2591927-A-G c.547A>G p.K183E Missense 3/16 - 1
11-2591928-A-G c.548A>G p.K183R Missense 3/16 - 2
11-2591928-A-T c.548A>T p.K183M Missense 3/16 - 3
11-2591929-G-C c.549G>C p.K183N Missense 3/16 - 2
11-2591929-G-T c.549G>T p.K183N Missense 3/16 - 2
11-2591930-TA-GC c.550_551delinsGC p.Y184A Missense 3/16 - 1
11-2591930-T-C c.550T>C p.Y184H Missense 3/16 - 1
11-2591931-A-C c.551A>C p.Y184S Missense 3/16 - 8
11-2591931-AC-GG c.551_552delinsGG p.Y184W Missense 3/16 - 1
11-2591931-A-G c.551A>G p.Y184C Missense 3/16 - 1
11-2591933-G-A c.553G>A p.V185M Missense 3/16 - 1
11-2591933-GT-AG c.553_554delinsAG p.V185R Missense 3/16 - 1
11-2591933-GT-TG c.553_554delinsTG p.V185W Missense 3/16 - 1
11-2591936-G-C c.556G>C p.G186R Missense 3/16 - 1
11-2591936-GGC-TGG c.556_558delinsTGG p.G186W Missense 3/16 - 1
11-2591936-G-T c.556G>T p.G186C Missense 3/16 - 2
11-2591939-C-A c.559C>A p.L187I Missense 3/16 - 1
11-2591939-CTC-TGG c.559_561delinsTGG p.L187W Missense 3/16 - 1
11-2591940-T-C c.560T>C p.L187P Missense 3/16 - 2
11-2591942-T-A c.562T>A p.W188R Missense 3/16 - 1
11-2591942-T-C c.562T>C p.W188R Missense 3/16 - 1
11-2591945-G-A c.565G>A p.G189R Missense 3/16 - 8
11-2591945-G-C c.565G>C p.G189R Missense 3/16 - 8
11-2591946-G-A c.566G>A p.G189E Missense 3/16 - 4
11-2591946-G-C c.566G>C p.G189A Missense 3/16 - 4
11-2591942-T-TG c.567dup p.R190Afs*95 Frameshift 3/16 - 1
11-2591948-CG-GC c.568_569delinsGC p.R190A Missense 3/16 - 1
11-2591948-CGG-TGT c.568_570delinsTGT p.R190C Missense 3/16 - 1
11-2591948-C-T c.568C>T p.R190W Missense 3/16 - 13
11-2591949-G-A c.569G>A p.R190Q Missense 3/16 - 69
11-2591949-G-C c.569G>C p.R190P Missense 3/16 - 3
11-2591949-G-T c.569G>T p.R190L Missense 3/16 - 5
11-2591952-T-C c.572T>C p.L191P Missense 3/16 - 4
11-2591949-GGCTGC-G c.573_577del p.R192Cfs*91 Frameshift 3/16 - 9
11-2591954-C-A c.574C>A p.R192S Missense 3/16 - 2
11-2591954-C-T c.574C>T p.R192C Missense 3/16 - 4
11-2591955-G-A c.575G>A p.R192H Missense 3/16 - 5
11-2591955-G-C c.575G>C p.R192P Missense 3/16 - 2
11-2591955-GC-AA c.575_576delinsAA p.R192Q Missense 3/16 - 1
11-2591957-T-C c.577T>C p.F193L Missense 3/16 - 3
11-2591959-T-A c.579T>A p.F193L Missense 3/16 - 3
11-2591959-T-G c.579T>G p.F193L Missense 3/16 - 3
11-2591960-GC-TG c.580_581delinsTG p.A194C Missense 3/16 - 1
11-2591963-CGG-TGT c.583_585delinsTGT p.R195C Missense 3/16 - 1
11-2591963-C-T c.583C>T p.R195W Missense 3/16 - 4
11-2591964-G-A c.584G>A p.R195Q Missense 3/16 - 5
11-2591964-G-C c.584G>C p.R195P Missense 3/16 - 5
11-2591963-CG-C c.585del p.K196Sfs*41 Frameshift 3/16 - 1
11-2591966-AAG-TGT c.586_588delinsTGT p.K196C Missense 3/16 - 1
11-2591966-A-G c.586A>G p.K196E Missense 3/16 - 1
11-2591967-A-C c.587A>C p.K196T Missense 3/16 - 2
11-2591968-G-C c.588G>C p.K196N Missense 3/16 - 1
11-2591968-G-T c.588G>T p.K196N Missense 3/16 - 1
11-2591969-C-T c.589C>T p.P197S Missense 3/16 - 3
11-2591970-C-T c.590C>T p.P197L Missense 3/16 - 5
11-2591972-A-G c.592A>G p.I198V Missense 3/16 - 5
11-2591975-T-G c.595T>G p.S199A Missense 3/16 - 1
11-2591979-T-A c.599T>A p.I200N Missense 3/16 - 1
11-2591976-C-CCAT c.601_603dup p.I201dup SpliceDonorInsertion 3/16 - 1
11-2591981-AT-TG c.601_602delinsTG p.I201C Missense 3/16 - 1
11-2591984-G-A c.604G>A p.D202N Missense 3/16 - 8
11-2591984-G-C c.604G>C p.D202H Missense 3/16 - 8
11-2591985-G-A c.604+1G>A - IntronicSNV - 3/15 2
11-2591991-C-T c.604+7C>T - IntronicSNV - 3/15 1
11-2591993-T-C c.604+9T>C - IntronicSNV - 3/15 1
11-2591996-C-T c.604+12C>T - IntronicSNV - 3/15 1
11-2592000-C-G c.604+16C>G - IntronicSNV - 3/15 1
11-2592000-C-T c.604+16C>T - IntronicSNV - 3/15 1
11-2592001-C-T c.604+17C>T - IntronicSNV - 3/15 1
11-2592003-G-A c.604+19G>A - IntronicSNV - 3/15 1
11-2592006-G-A c.604+22G>A - IntronicSNV - 3/15 1
11-2592008-G-T c.604+24G>T - IntronicSNV - 3/15 1
11-2592012-A-C c.604+28A>C - IntronicSNV - 3/15 1
11-2592013-C-T c.604+29C>T - IntronicSNV - 3/15 1
11-2592014-G-A c.604+30G>A - IntronicSNV - 3/15 1
11-2592017-C-G c.604+33C>G - IntronicSNV - 3/15 1
11-2592024-C-G c.604+40C>G - IntronicSNV - 3/15 1
11-2592025-C-T c.604+41C>T - IntronicSNV - 3/15 1
11-2592026-A-T c.604+42A>T - IntronicSNV - 3/15 1
11-2592027-G-A c.604+43G>A - IntronicSNV - 3/15 1
11-2592033-G-A c.604+49G>A - IntronicSNV - 3/15 1
11-2592033-G-T c.604+49G>T - IntronicSNV - 3/15 1
11-2592046-C-A c.604+62C>A - IntronicSNV - 3/15 1
11-2592056-C-G c.604+72C>G - IntronicSNV - 3/15 1
11-2592490-A-G c.605-65A>G - IntronicSNV - 3/15 1
11-2592503-G-T c.605-52G>T - IntronicSNV - 3/15 1
11-2592507-C-A c.605-48C>A - IntronicSNV - 3/15 1
11-2592509-T-G c.605-46T>G - IntronicSNV - 3/15 1
11-2592514-G-A c.605-41G>A - IntronicSNV - 3/15 1
11-2592517-G-A c.605-38G>A - IntronicSNV - 3/15 1
11-2592518-C-T c.605-37C>T - IntronicSNV - 3/15 1
11-2592519-G-A c.605-36G>A - IntronicSNV - 3/15 1
11-2592519-G-C c.605-36G>C - IntronicSNV - 3/15 1
11-2592522-C-A c.605-33C>A - IntronicSNV - 3/15 1
11-2592522-C-G c.605-33C>G - IntronicSNV - 3/15 1
11-2592524-C-T c.605-31C>T - IntronicSNV - 3/15 1
11-2592525-G-A c.605-30G>A - IntronicSNV - 3/15 1
11-2592527-A-G c.605-28A>G - IntronicSNV - 3/15 1
11-2592531-C-T c.605-24C>T - IntronicSNV - 3/15 1
11-2592532-T-TC c.605-18dup - IntronicInsertion - 3/15 1
11-2592537-C-A c.605-18C>A - IntronicSNV - 3/15 1
11-2592537-C-G c.605-18C>G - IntronicSNV - 3/15 1
11-2592537-C-T c.605-18C>T - IntronicSNV - 3/15 1
11-2592539-C-T c.605-16C>T - IntronicSNV - 3/15 1
11-2592544-G-A c.605-11G>A - IntronicSNV - 3/15 1
11-2592545-C-T c.605-10C>T - IntronicSNV - 3/15 1
11-2592555-A-C c.605A>C p.D202A Missense 4/16 - 1
11-2592555-A-G c.605A>G p.D202G Missense 4/16 - 3
11-2592556-C-A c.606C>A p.D202E Missense 4/16 - 1
11-2592556-C-G c.606C>G p.D202E Missense 4/16 - 1
11-2592558-T-C c.608T>C p.L203P Missense 4/16 - 3
11-2592560-A-T c.610A>T p.I204F Missense 4/16 - 6
11-2592560-AT-GC c.610_611delinsGC p.I204A Missense 4/16 - 1
11-2592561-T-A c.611T>A p.I204N Missense 4/16 - 1
11-2592562-C-G c.612C>G p.I204M Missense 4/16 - 5
11-2592562-C-T c.612C>T p.I204= Synonymous 4/16 - 1
11-2592563-G-A c.613G>A p.V205M Missense 4/16 - 16
11-2592563-G-C c.613G>C p.V205L Missense 4/16 - 1
11-2592563-G-T c.613G>T p.V205L Missense 4/16 - 1
11-2592564-T-C c.614T>C p.V205A Missense 4/16 - 1
11-2592566-G-C c.616G>C p.V206L Missense 4/16 - 1
11-2592566-GT-TG c.616_617delinsTG p.V206C Missense 4/16 - 1
11-2592568-C-T c.618C>T p.V206= Synonymous 4/16 - 1
11-2592569-G-A c.619G>A p.V207M Missense 4/16 - 7
11-2592569-G-C c.619G>C p.V207L Missense 4/16 - 2
11-2592569-G-T c.619G>T p.V207L Missense 4/16 - 2
11-2592569-GTG-TGT c.619_621delinsTGT p.V207C Missense 4/16 - 1
11-2592573-C-T c.623C>T p.A208V Missense 4/16 - 1
11-2592575-T-A c.625T>A p.S209T Missense 4/16 - 1
11-2592575-T-C c.625T>C p.S209P Missense 4/16 - 13
11-2592575-TCC-ATG c.625_627delinsATG p.S209M Missense 4/16 - 1
11-2592575-TC-CT c.625_626delinsCT p.S209L Missense 4/16 - 1
11-2592576-C-T c.626C>T p.S209F Missense 4/16 - 11
11-2592575-TC-T c.627del p.M210Wfs*27 Frameshift 4/16 - 1
11-2592577-C-T c.627C>T p.S209= Synonymous 4/16 - 1
11-2592579-T-C c.629T>C p.M210T Missense 4/16 - 1
11-2592580-G-A c.630G>A p.M210I Missense 4/16 - 2
11-2592580-G-C c.630G>C p.M210I Missense 4/16 - 1
11-2592580-G-T c.630G>T p.M210I Missense 4/16 - 1
11-2592586-C-G c.636C>G p.V212= Synonymous 4/16 - 1
11-2592590-T-A c.640T>A p.C214S Missense 4/16 - 2
11-2592590-TG-GC c.640_641delinsGC p.C214A Missense 4/16 - 18
11-2592591-G-C c.641G>C p.C214S Missense 4/16 - 2
11-2592591-G-A c.641G>A p.C214Y Missense 4/16 - 1
11-2592592-C-A c.642C>A p.C214* Nonsense 4/16 - 2
11-2592592-C-T c.642C>T p.C214= Synonymous 4/16 - 1
11-2592593-G-A c.643G>A p.V215M Missense 4/16 - 6
11-2592593-G-C c.643G>C p.V215L Missense 4/16 - 1
11-2592593-G-T c.643G>T p.V215L Missense 4/16 - 2
11-2592593-GT-CC c.643_644delinsCC p.V215P Missense 4/16 - 1
11-2592593-GTG-TGT c.643_645delinsTGT p.V215C Missense 4/16 - 1
11-2592594-T-C c.644T>C p.V215A Missense 4/16 - 1
11-2592594-T-G c.644T>G p.V215G Missense 4/16 - 3
11-2592595-G-A c.645G>A p.V215= Synonymous 4/16 - 1
11-2592597-G-A c.647G>A p.G216D Missense 4/16 - 1
11-2592598-C-A c.648C>A p.G216= Synonymous 4/16 - 1
11-2592598-C-T c.648C>T p.G216= Synonymous 4/16 - 1
11-2592599-T-G c.649T>G p.S217A Missense 4/16 - 1
11-2592600-C-G c.650C>G p.S217C Missense 4/16 - 1
11-2592600-C-T c.650C>T p.S217F Missense 4/16 - 1
11-2592602-AA-GC c.652_653delinsGC p.K218A Missense 4/16 - 2
11-2592602-AAG-TGT c.652_654delinsTGT p.K218C Missense 4/16 - 4
11-2592602-A-G c.652A>G p.K218E Missense 4/16 - 5
11-2592605-GGG-TGT c.655_657delinsTGT p.G219C Missense 4/16 - 16
11-2592606-G-A c.656G>A p.G219E Missense 4/16 - 3
11-2592607-G-A c.657G>A p.G219= Synonymous 4/16 - 1
11-2592608-C-A c.658C>A p.Q220K Missense 4/16 - 2
11-2592608-CAG-TGT c.658_660delinsTGT p.Q220C Missense 4/16 - 2
11-2592611-GTG-TGT c.661_663delinsTGT p.V221C Missense 4/16 - 3
11-2592611-GT-TG c.661_662delinsTG p.V221W Missense 4/16 - 1
11-2592613-G-A c.663G>A p.V221= Synonymous 4/16 - 1
11-2592614-GTTTGCCACGTCGGCCATC-G c.664_681del p.F222_I227del InFrameDeletion 4/16 - 1
11-2592615-T-G c.665T>G p.F222C Missense 4/16 - 4
11-2592617-GCC-TGG c.667_669delinsTGG p.A223W Missense 4/16 - 1
11-2592617-GC-TG c.667_668delinsTG p.A223C Missense 4/16 - 4
11-2592619-C-T c.669C>T p.A223= Synonymous 4/16 - 1
11-2592620-ACG-TGT c.670_672delinsTGT p.T224C Missense 4/16 - 7
11-2592621-C-T c.671C>T p.T224M Missense 4/16 - 4
11-2592622-G-A c.672G>A p.T224= Synonymous 4/16 - 1
11-2592624-C-G c.674C>G p.S225W Missense 4/16 - 2
11-2592624-CG-GT c.674_675delinsGT p.S225C Missense 4/16 - 2
11-2592624-C-T c.674C>T p.S225L Missense 4/16 - 15
11-2592625-G-A c.675G>A p.S225= Synonymous 4/16 - 1
11-2592625-G-C c.675G>C p.S225= Synonymous 4/16 - 1
11-2592626-GCC-TGG c.676_678delinsTGG p.A226W Missense 4/16 - 2
11-2592626-GC-TG c.676_677delinsTG p.A226C Missense 4/16 - 10
11-2592626-G-T c.676G>T p.A226S Missense 4/16 - 1
11-2592627-C-T c.677C>T p.A226V Missense 4/16 - 3
11-2592629-A-C c.679A>C p.I227L Missense 4/16 - 6
11-2592629-ATC-TGG c.679_681delinsTGG p.I227W Missense 4/16 - 1
11-2592629-AT-TG c.679_680delinsTG p.I227C Missense 4/16 - 3
11-2592632-AG-CA c.682_683delinsCA p.R228Q Missense 4/16 - 5
11-2592632-AG-GA c.682_683delinsGA p.R228E Missense 4/16 - 3
11-2592632-AG-GC c.682_683delinsGC p.R228A Missense 4/16 - 4
11-2592632-A-T c.682A>T p.R228W Missense 4/16 - 1
11-2592634-G-A c.683+1G>A - IntronicSNV - 4/15 1
11-2592635-T-G c.683+2T>G - IntronicSNV - 4/15 1
11-2592638-G-A c.683+5G>A - IntronicSNV - 4/15 2
11-2593244-G-A c.685G>A p.G229S Missense 5/16 - 1
11-2593244-GGC-TGG c.685_687delinsTGG p.G229W Missense 5/16 - 1
11-2593244-G-T c.685G>T p.G229C Missense 5/16 - 5
11-2593245-G-A c.686G>A p.G229D Missense 5/16 - 13
11-2593247-A-C c.688A>C p.I230L Missense 5/16 - 1
11-2593247-A-G c.688A>G p.I230V Missense 5/16 - 1
11-2593247-ATC-TGG c.688_690delinsTGG p.I230W Missense 5/16 - 1
11-2593247-AT-TG c.688_689delinsTG p.I230C Missense 5/16 - 5
11-2593250-C-A c.691C>A p.R231S Missense 5/16 - 1
11-2593250-CG-AC c.691_692delinsAC p.R231T Missense 5/16 - 1
11-2593250-CGC-AAG c.691_693delinsAAG p.R231K Missense 5/16 - 1
11-2593250-CGC-ATG c.691_693delinsATG p.R231M Missense 5/16 - 1
11-2593250-CGC-GAG c.691_693delinsGAG p.R231E Missense 5/16 - 2
11-2593250-CGC-TGG c.691_693delinsTGG p.R231W Missense 5/16 - 4
11-2593250-CG-GC c.691_692delinsGC p.R231A Missense 5/16 - 14
11-2593250-CG-GT c.691_692delinsGT p.R231V Missense 5/16 - 1
11-2593250-CG-TA c.691_692delinsTA p.R231Y Missense 5/16 - 1
11-2593250-CG-TT c.691_692delinsTT p.R231F Missense 5/16 - 1
11-2593250-C-T c.691C>T p.R231C Missense 5/16 - 28
11-2593251-G-A c.692G>A p.R231H Missense 5/16 - 14
11-2593251-GC-AA c.692_693delinsAA p.R231Q Missense 5/16 - 2
11-2593251-G-T c.692G>T p.R231L Missense 5/16 - 2
11-2593252-C-T c.693C>T p.R231= Synonymous 5/16 - 1
11-2593253-TT-GC c.694_695delinsGC p.F232A Missense 5/16 - 5
11-2593254-T-G c.695T>G p.F232C Missense 5/16 - 5
11-2593256-C-A c.697C>A p.L233M Missense 5/16 - 1
11-2593256-CTG-TGT c.697_699delinsTGT p.L233C Missense 5/16 - 1
11-2593256-CT-TG c.697_698delinsTG p.L233W Missense 5/16 - 3
11-2593259-CAG-TGT c.700_702delinsTGT p.Q234C Missense 5/16 - 1
11-2593259-CA-TG c.700_701inv p.Q234W Missense 5/16 - 1
11-2593259-C-G c.700C>G p.Q234E Missense 5/16 - 1
11-2593260-A-C c.701A>C p.Q234P Missense 5/16 - 3
11-2593260-A-G c.701A>G p.Q234R Missense 5/16 - 4
11-2593262-ATC-TGG c.703_705delinsTGG p.I235W Missense 5/16 - 2
11-2593262-AT-GC c.703_704delinsGC p.I235A Missense 5/16 - 1
11-2593263-T-A c.704T>A p.I235N Missense 5/16 - 6
11-2593265-CT-GC c.706_707delinsGC p.L236A Missense 5/16 - 1
11-2593265-CTG-TGT c.706_708delinsTGT p.L236C Missense 5/16 - 1
11-2593265-CT-TG c.706_707delinsTG p.L236W Missense 5/16 - 1
11-2593266-T-C c.707T>C p.L236P Missense 5/16 - 5
11-2593266-T-G c.707T>G p.L236R Missense 5/16 - 5
11-2593268-AG-CC c.709_710delinsCC p.R237P Missense 5/16 - 1
11-2593268-AG-GA c.709_710delinsGA p.R237E Missense 5/16 - 3
11-2593268-AG-GC c.709_710delinsGC p.R237A Missense 5/16 - 7
11-2593268-A-T c.709A>T p.R237W Missense 5/16 - 2
11-2593271-AT-GC c.712_713delinsGC p.M238A Missense 5/16 - 1
11-2593271-ATG-TGT c.712_714delinsTGT p.M238C Missense 5/16 - 1
11-2593271-AT-TG c.712_713delinsTG p.M238W Missense 5/16 - 3
11-2593274-C-G c.715C>G p.L239V Missense 5/16 - 1
11-2593274-CTA-TGG c.715_717delinsTGG p.L239W Missense 5/16 - 3
11-2593274-CT-GC c.715_716delinsGC p.L239A Missense 5/16 - 1
11-2593275-T-C c.716T>C p.L239P Missense 5/16 - 3
11-2593277-CAC-GAG c.718_720delinsGAG p.H240E Missense 5/16 - 1
11-2593277-CAC-TGG c.718_720delinsTGG p.H240W Missense 5/16 - 1
11-2593277-CA-GC c.718_719delinsGC p.H240A Missense 5/16 - 1
11-2593278-A-G c.719A>G p.H240R Missense 5/16 - 5
11-2593280-G-A c.721G>A p.V241I Missense 5/16 - 1
11-2593280-G-T c.721G>T p.V241F Missense 5/16 - 10
11-2593280-GTC-ATG c.721_723delinsATG p.V241M Missense 5/16 - 1
11-2593280-GTC-TGG c.721_723delinsTGG p.V241W Missense 5/16 - 2
11-2593281-T-C c.722T>C p.V241A Missense 5/16 - 2
11-2593281-T-G c.722T>G p.V241G Missense 5/16 - 1
11-2593283-G-A c.724G>A p.D242N Missense 5/16 - 8
11-2593283-GAC-TGG c.724_726delinsTGG p.D242W Missense 5/16 - 4
11-2593283-G-T c.724G>T p.D242Y Missense 5/16 - 1
11-2593284-A-C c.725A>C p.D242A Missense 5/16 - 3
11-2593286-CGC-TGG c.727_729delinsTGG p.R243W Missense 5/16 - 5
11-2593286-CG-GC c.727_728delinsGC p.R243A Missense 5/16 - 6
11-2593286-C-T c.727C>T p.R243C Missense 5/16 - 24
11-2593287-G-A c.728G>A p.R243H Missense 5/16 - 14
11-2593287-G-C c.728G>C p.R243P Missense 5/16 - 2
11-2593287-GC-AA c.728_729delinsAA p.R243Q Missense 5/16 - 4
11-2593289-CAG-TGT c.730_732delinsTGT p.Q244C Missense 5/16 - 1
11-2593289-CA-TG c.730_731inv p.Q244W Missense 5/16 - 3
11-2593290-A-G c.731A>G p.Q244R Missense 5/16 - 2
11-2593290-AGG-A c.733_734del p.G245Rfs*39 Frameshift 5/16 - 2
11-2593292-G-A c.733G>A p.G245R Missense 5/16 - 1
11-2593292-G-C c.733G>C p.G245R Missense 5/16 - 1
11-2593293-G-C c.734G>C p.G245A Missense 5/16 - 1
11-2593293-G-T c.734G>T p.G245V Missense 5/16 - 2
11-2593296-G-C c.737G>C p.G246A Missense 5/16 - 1
11-2593298-A-G c.739A>G p.T247A Missense 5/16 - 4
11-2593299-CC-TG c.740_741delinsTG p.T247M Missense 5/16 - 1
11-2593301-T-A c.742T>A p.W248R Missense 5/16 - 7
11-2593301-T-C c.742T>C p.W248R Missense 5/16 - 7
11-2593301-TG-GC c.742_743delinsGC p.W248A Missense 5/16 - 3
11-2593302-GG-TC c.743_744delinsTC p.W248F Missense 5/16 - 1
11-2593302-GG-TT c.743_744delinsTT p.W248F Missense 5/16 - 4
11-2593303-G-C c.744G>C p.W248C Missense 5/16 - 2
11-2593303-G-T c.744G>T p.W248C Missense 5/16 - 2
11-2593304-AG-CA c.745_746delinsCA p.R249Q Missense 5/16 - 3
11-2593304-AG-GA c.745_746delinsGA p.R249E Missense 5/16 - 2
11-2593304-AG-GC c.745_746delinsGC p.R249A Missense 5/16 - 4
11-2593304-AGG-TGT c.745_747delinsTGT p.R249C Missense 5/16 - 1
11-2593307-CTC-AAG c.748_750delinsAAG p.L250K Missense 5/16 - 1
11-2593307-CT-GC c.748_749delinsGC p.L250A Missense 5/16 - 3
11-2593308-T-A c.749T>A p.L250H Missense 5/16 - 3
11-2593310-CT-GC c.751_752delinsGC p.L251A Missense 5/16 - 7
11-2593311-T-A c.752T>A p.L251Q Missense 5/16 - 1
11-2593311-T-C c.752T>C p.L251P Missense 5/16 - 3
11-2593313-GGC-TGG c.754_756delinsTGG p.G252W Missense 5/16 - 1
11-2593314-G-A c.755G>A p.G252D Missense 5/16 - 1
11-2593314-G-C c.755G>C p.G252A Missense 5/16 - 2
11-2593316-TC-AA c.757_758delinsAA p.S253N Missense 5/16 - 1
11-2593316-T-G c.757T>G p.S253A Missense 5/16 - 2
11-2593317-CC-GG c.758_759inv p.S253W Missense 5/16 - 1
11-2593317-C-G c.758C>G p.S253C Missense 5/16 - 1
11-2593319-G-A c.760G>A p.V254M Missense 5/16 - 25
11-2593319-G-C c.760G>C p.V254L Missense 5/16 - 8
11-2593319-G-T c.760G>T p.V254L Missense 5/16 - 8
11-2593319-GT-AA c.760_761delinsAA p.V254K Missense 5/16 - 1
11-2593319-GTG-TGT c.760_762delinsTGT p.V254C Missense 5/16 - 1
11-2593319-GT-TG c.760_761delinsTG p.V254W Missense 5/16 - 1
11-2593320-T-A c.761T>A p.V254E Missense 5/16 - 1
11-2593320-T-C c.761T>C p.V254A Missense 5/16 - 7
11-2593322-GTC-TGG c.763_765delinsTGG p.V255W Missense 5/16 - 3
11-2593323-T-C c.764T>C p.V255A Missense 5/16 - 2
11-2593325-TT-GC c.766_767delinsGC p.F256A Missense 5/16 - 2
11-2593326-T-A c.767T>A p.F256Y Missense 5/16 - 1
11-2593328-AT-GC c.769_770delinsGC p.I257A Missense 5/16 - 3
11-2593328-AT-TG c.769_770delinsTG p.I257C Missense 5/16 - 1
11-2593331-C-A c.772C>A p.H258N Missense 5/16 - 2
11-2593331-CAC-AAG c.772_774delinsAAG p.H258K Missense 5/16 - 1
11-2593331-CAC-TGG c.772_774delinsTGG p.H258W Missense 5/16 - 1
11-2593331-CA-GC c.772_773delinsGC p.H258A Missense 5/16 - 4
11-2593332-A-C c.773A>C p.H258P Missense 5/16 - 2
11-2593332-A-G c.773A>G p.H258R Missense 5/16 - 4
11-2593334-C-G c.775C>G p.R259G Missense 5/16 - 1
11-2593334-CG-GC c.775_776delinsGC p.R259A Missense 5/16 - 5
11-2593334-C-T c.775C>T p.R259C Missense 5/16 - 8
11-2593335-G-A c.776G>A p.R259H Missense 5/16 - 16
11-2593335-GC-AA c.776_777delinsAA p.R259Q Missense 5/16 - 1
11-2593335-G-T c.776G>T p.R259L Missense 5/16 - 7
11-2593337-CA-GC c.778_779delinsGC p.Q260A Missense 5/16 - 2
11-2593416-A-G c.780+77A>G - IntronicSNV - 5/15 2
11-2594076-G-A c.781G>A p.E261K Missense 6/16 - 5
11-2594076-G-C c.781G>C p.E261Q Missense 6/16 - 1
11-2594076-G-T c.781G>T p.E261* Nonsense 6/16 - 1
11-2594077-A-C c.782A>C p.E261A Missense 6/16 - 4
11-2594077-A-G c.782A>G p.E261G Missense 6/16 - 1
11-2594077-A-T c.782A>T p.E261V Missense 6/16 - 2
11-2594078-G-C c.783G>C p.E261D Missense 6/16 - 4
11-2594078-G-T c.783G>T p.E261D Missense 6/16 - 4
11-2594079-C-G c.784C>G p.L262V Missense 6/16 - 1
11-2594079-CT-GC c.784_785delinsGC p.L262A Missense 6/16 - 2
11-2594079-CTG-TTT c.784_786delinsTTT p.L262F Missense 6/16 - 1
11-2594080-T-C c.785T>C p.L262P Missense 6/16 - 1
11-2594082-AT-GC c.787_788delinsGC p.I263A Missense 6/16 - 1
11-2594085-A-G c.790A>G p.T264A Missense 6/16 - 1
11-2594088-A-G c.793A>G p.T265A Missense 6/16 - 2
11-2594089-C-T c.794C>T p.T265I Missense 6/16 - 3
11-2594088-AC-A c.796del p.L266Cfs*23 Frameshift 6/16 - 2
11-2594091-C-G c.796C>G p.L266V Missense 6/16 - 1
11-2594091-CT-GC c.796_797delinsGC p.L266A Missense 6/16 - 1
11-2594091-CT-TG c.796_797delinsTG p.L266W Missense 6/16 - 3
11-2594092-T-C c.797T>C p.L266P Missense 6/16 - 7
11-2594094-TA-GC c.799_800delinsGC p.Y267A Missense 6/16 - 2
11-2594095-A-T c.800A>T p.Y267F Missense 6/16 - 1
11-2594097-AT-GC c.802_803delinsGC p.I268A Missense 6/16 - 6
11-2594098-T-G c.803T>G p.I268S Missense 6/16 - 1
11-2594100-G-A c.805G>A p.G269S Missense 6/16 - 30
11-2594101-G-A c.806G>A p.G269D Missense 6/16 - 7
11-2594101-G-C c.806G>C p.G269A Missense 6/16 - 1
11-2594103-TT-GC c.808_809delinsGC p.F270A Missense 6/16 - 3
11-2594106-CT-GC c.811_812delinsGC p.L271A Missense 6/16 - 3
11-2594109-G-A c.814G>A p.G272S Missense 6/16 - 1
11-2594109-G-T c.814G>T p.G272C Missense 6/16 - 2
11-2594110-G-A c.815G>A p.G272D Missense 6/16 - 3
11-2594110-G-C c.815G>C p.G272A Missense 6/16 - 3
11-2594110-G-T c.815G>T p.G272V Missense 6/16 - 2
11-2594112-C-A c.817C>A p.L273I Missense 6/16 - 1
11-2594112-C-G c.817C>G p.L273V Missense 6/16 - 1
11-2594112-C-T c.817C>T p.L273F Missense 6/16 - 21
11-2594112-CTC-TGG c.817_819delinsTGG p.L273W Missense 6/16 - 1
11-2594112-CT-GC c.817_818delinsGC p.L273A Missense 6/16 - 3
11-2594113-TC-AA c.818_819delinsAA p.L273Q Missense 6/16 - 2
11-2594113-T-G c.818T>G p.L273R Missense 6/16 - 2
11-2594115-A-G c.820A>G p.I274V Missense 6/16 - 13
11-2594115-AT-GC c.820_821delinsGC p.I274A Missense 6/16 - 3
11-2594115-AT-TG c.820_821delinsTG p.I274C Missense 6/16 - 2
11-2594118-TTC-CAA c.823_825delinsCAA p.F275Q Missense 6/16 - 1
11-2594118-TT-GC c.823_824delinsGC p.F275A Missense 6/16 - 5
11-2594115-ATCT-A c.824_826del p.F275del InFrameDeletion 6/16 - 1
11-2594119-T-C c.824T>C p.F275S Missense 6/16 - 7
11-2594121-CT-C c.826del p.S276Pfs*13 Frameshift 6/16 - 1
11-2594121-T-G c.826T>G p.S276A Missense 6/16 - 1
11-2594119-TCTC-T c.828_830del p.S277del InFrameDeletion 6/16 - 4
11-2594124-T-C c.829T>C p.S277P Missense 6/16 - 2
11-2594124-T-G c.829T>G p.S277A Missense 6/16 - 1
11-2594125-C-G c.830C>G p.S277W Missense 6/16 - 5
11-2594125-C-T c.830C>T p.S277L Missense 6/16 - 10
11-2594127-TA-GC c.832_833delinsGC p.Y278A Missense 6/16 - 1
11-2594127-T-C c.832T>C p.Y278H Missense 6/16 - 3
11-2594128-A-T c.833A>T p.Y278F Missense 6/16 - 1
11-2594129-C-T c.834C>T p.Y278= Synonymous 6/16 - 1
11-2594130-T-A c.835T>A p.F279I Missense 6/16 - 13
11-2594130-TT-GC c.835_836delinsGC p.F279A Missense 6/16 - 5
11-2594131-T-G c.836T>G p.F279C Missense 6/16 - 1
11-2594134-T-A c.839T>A p.V280E Missense 6/16 - 3
11-2594134-T-C c.839T>C p.V280A Missense 6/16 - 2
11-2594136-TA-GC c.841_842delinsGC p.Y281A Missense 6/16 - 1
11-2594137-A-G c.842A>G p.Y281C Missense 6/16 - 5
11-2594139-CT-GC c.844_845delinsGC p.L282A Missense 6/16 - 1
11-2594140-T-C c.845T>C p.L282P Missense 6/16 - 1
11-2594142-G-A c.847G>A p.A283T Missense 6/16 - 3
11-2594142-GC-TG c.847_848delinsTG p.A283C Missense 6/16 - 1
11-2594145-G-A c.850G>A p.E284K Missense 6/16 - 2
11-2594145-GAG-TGT c.850_852delinsTGT p.E284C Missense 6/16 - 3
11-2594146-A-C c.851A>C p.E284A Missense 6/16 - 1
11-2594148-AA-GC c.853_854delinsGC p.K285A Missense 6/16 - 1
11-2594151-G-A c.856G>A p.D286N Missense 6/16 - 1
11-2594151-GA-TG c.856_857delinsTG p.D286C Missense 6/16 - 3
11-2594152-A-C c.857A>C p.D286A Missense 6/16 - 1
11-2594154-G-A c.859G>A p.A287T Missense 6/16 - 3
11-2594154-GC-AA c.859_860delinsAA p.A287K Missense 6/16 - 1
11-2594154-GC-CA c.859_860delinsCA p.A287Q Missense 6/16 - 1
11-2594154-GCG-TGT c.859_861delinsTGT p.A287C Missense 6/16 - 1
11-2594154-G-T c.859G>T p.A287S Missense 6/16 - 1
11-2594155-C-A c.860C>A p.A287E Missense 6/16 - 3
11-2594155-CG-AC c.860_861delinsAC p.A287D Missense 6/16 - 1
11-2594155-C-T c.860C>T p.A287V Missense 6/16 - 1
11-2594157-G-T c.862G>T p.V288L Missense 6/16 - 1
11-2594158-T-C c.863T>C p.V288A Missense 6/16 - 1
11-2594160-AAC-GAG c.865_867delinsGAG p.N289E Missense 6/16 - 1
11-2594160-AA-GC c.865_866delinsGC p.N289A Missense 6/16 - 1
11-2594163-G-A c.868G>A p.E290K Missense 6/16 - 2
11-2594163-GA-AG c.868_869delinsAG p.E290R Missense 6/16 - 1
11-2594163-GAG-TGT c.868_870delinsTGT p.E290C Missense 6/16 - 3
11-2594164-A-C c.869A>C p.E290A Missense 6/16 - 3
11-2594165-G-C c.870G>C p.E290D Missense 6/16 - 1
11-2594165-G-T c.870G>T p.E290D Missense 6/16 - 1
11-2594166-T-G c.871T>G p.S291A Missense 6/16 - 1
11-2594168-A-C c.873A>C p.S291= Synonymous 6/16 - 1
11-2594168-A-G c.873A>G p.S291= Synonymous 6/16 - 1
11-2594168-A-T c.873A>T p.S291= Synonymous 6/16 - 1
11-2594169-G-T c.874G>T p.G292C Missense 6/16 - 1
11-2594170-G-A c.875G>A p.G292D Missense 6/16 - 4
11-2594170-G-C c.875G>C p.G292A Missense 6/16 - 1
11-2594172-CG-GC c.877_878delinsGC p.R293A Missense 6/16 - 1
11-2594172-C-T c.877C>T p.R293C Missense 6/16 - 8
11-2594173-GC-AA c.878_879delinsAA p.R293Q Missense 6/16 - 1
11-2594176-T-C c.881T>C p.V294A Missense 6/16 - 1
11-2594178-GAG-TGT c.883_885delinsTGT p.E295C Missense 6/16 - 3
11-2594179-A-C c.884A>C p.E295A Missense 6/16 - 2
11-2594181-TT-GC c.886_887delinsGC p.F296A Missense 6/16 - 1
11-2594182-T-C c.887T>C p.F296S Missense 6/16 - 3
11-2594184-G-A c.889G>A p.G297S Missense 6/16 - 2
11-2594184-G-T c.889G>T p.G297C Missense 6/16 - 1
11-2594185-G-C c.890G>C p.G297A Missense 6/16 - 1
11-2594187-AG-GC c.892_893delinsGC p.S298A Missense 6/16 - 1
11-2594187-A-T c.892A>T p.S298C Missense 6/16 - 1
11-2594190-TA-GC c.895_896delinsGC p.Y299A Missense 6/16 - 1
11-2594191-A-G c.896A>G p.Y299C Missense 6/16 - 1
11-2594193-G-A c.898G>A p.A300T Missense 6/16 - 14
11-2594193-GCA-TGT c.898_900delinsTGT p.A300C Missense 6/16 - 1
11-2594193-G-T c.898G>T p.A300S Missense 6/16 - 1
11-2594194-C-A c.899C>A p.A300E Missense 6/16 - 1
11-2594196-GA-TG c.901_902delinsTG p.D301C Missense 6/16 - 2
11-2594197-A-C c.902A>C p.D301A Missense 6/16 - 1
11-2594199-G-A c.904G>A p.A302T Missense 6/16 - 3
11-2594200-C-T c.905C>T p.A302V Missense 6/16 - 10
11-2594202-CT-GC c.907_908delinsGC p.L303A Missense 6/16 - 1
11-2594203-T-C c.908T>C p.L303P Missense 6/16 - 2
11-2594205-T-A c.910T>A p.W304R Missense 6/16 - 2
11-2594205-T-C c.910T>C p.W304R Missense 6/16 - 2
11-2594205-TG-GC c.910_911delinsGC p.W304A Missense 6/16 - 1
11-2594208-T-A c.913T>A p.W305R Missense 6/16 - 1
11-2594208-T-C c.913T>C p.W305R Missense 6/16 - 1
11-2594208-TG-GC c.913_914delinsGC p.W305A Missense 6/16 - 1
11-2594209-G-A c.914G>A p.W305* Nonsense 6/16 - 6
11-2594209-G-C c.914G>C p.W305S Missense 6/16 - 6
11-2594209-G-T c.914G>T p.W305L Missense 6/16 - 2
11-2594210-G-A c.915G>A p.W305* Nonsense 6/16 - 5
11-2594211-G-A c.916G>A p.G306R Missense 6/16 - 8
11-2594211-G-C c.916G>C p.G306R Missense 6/16 - 8
11-2594211-G-T c.916G>T p.G306W Missense 6/16 - 1
11-2594212-G-C c.917G>C p.G306A Missense 6/16 - 1
11-2594212-G-T c.917G>T p.G306V Missense 6/16 - 4
11-2594208-TGG-T c.918_919del p.V307Gfs*155 Frameshift 6/16 - 1
11-2594214-G-C c.919G>C p.V307L Missense 6/16 - 27
11-2594214-G-T c.919G>T p.V307L Missense 6/16 - 24
11-2594214-GTG-ATC c.919_921delinsATC p.V307I Missense 6/16 - 1
11-2594214-GTG-TGT c.919_921delinsTGT p.V307C Missense 6/16 - 1
11-2594214-GT-TC c.919_920delinsTC p.V307S Missense 6/16 - 1
11-2594215-T-C c.920T>C p.V307A Missense 6/16 - 2
11-2594216-G-A c.921G>A p.V307= Synonymous 6/16 - 1
11-2595287-A-G c.921+1071A>G - IntronicSNV - 6/15 1
11-2597325-A-G c.921+3109A>G - IntronicSNV - 6/15 1
11-2598864-G-A c.921+4648G>A - IntronicSNV - 6/15 1
11-2604666-T-A c.923T>A p.V308D Missense 7/16 - 1
11-2604666-T-C c.923T>C p.V308A Missense 7/16 - 1
11-2604668-A-G c.925A>G p.T309A Missense 7/16 - 1
11-2604668-A-T c.925A>T p.T309S Missense 7/16 - 1
11-2604669-C-G c.926C>G p.T309R Missense 7/16 - 1
11-2604669-C-T c.926C>T p.T309I Missense 7/16 - 3
11-2604670-A-T c.927A>T p.T309= Synonymous 7/16 - 1
11-2604671-G-A c.928G>A p.V310I Missense 7/16 - 5
11-2604671-G-C c.928G>C p.V310L Missense 7/16 - 1
11-2604672-T-C c.929T>C p.V310A Missense 7/16 - 4
11-2604672-T-G c.929T>G p.V310G Missense 7/16 - 3
11-2604674-A-G c.931A>G p.T311A Missense 7/16 - 4
11-2604674-A-T c.931A>T p.T311S Missense 7/16 - 1
11-2604675-C-G c.932C>G p.T311S Missense 7/16 - 1
11-2604675-C-T c.932C>T p.T311I Missense 7/16 - 10
11-2604677-A-G c.934A>G p.T312A Missense 7/16 - 1
11-2604672-TCAC-T c.935_937del p.T312del InFrameDeletion 7/16 - 1
11-2604677-A-T c.934A>T p.T312S Missense 7/16 - 2
11-2604678-C-G c.935C>G p.T312S Missense 7/16 - 2
11-2604678-C-T c.935C>T p.T312I Missense 7/16 - 7
11-2604680-A-G c.937A>G p.I313V Missense 7/16 - 1
11-2604680-AT-GC c.937_938delinsGC p.I313A Missense 7/16 - 1
11-2604682-C-G c.939C>G p.I313M Missense 7/16 - 1
11-2604683-G-A c.940G>A p.G314S Missense 7/16 - 22
11-2604683-G-C c.940G>C p.G314R Missense 7/16 - 2
11-2604683-GG-TT c.940_941delinsTT p.G314F Missense 7/16 - 1
11-2604683-G-T c.940G>T p.G314C Missense 7/16 - 4
11-2604684-G-A c.941G>A p.G314D Missense 7/16 - 6
11-2604684-G-C c.941G>C p.G314A Missense 7/16 - 3
11-2604686-T-A c.943T>A p.Y315N Missense 7/16 - 2
11-2604686-TA-GC c.943_944delinsGC p.Y315A Missense 7/16 - 1
11-2604686-T-C c.943T>C p.Y315H Missense 7/16 - 2
11-2604687-A-C c.944A>C p.Y315S Missense 7/16 - 22
11-2604687-A-G c.944A>G p.Y315C Missense 7/16 - 13
11-2604687-A-T c.944A>T p.Y315F Missense 7/16 - 2
11-2604689-G-A c.946G>A p.G316R Missense 7/16 - 1
11-2604689-G-C c.946G>C p.G316R Missense 7/16 - 1
11-2604690-G-A c.947G>A p.G316E Missense 7/16 - 4
11-2604690-G-C c.947G>C p.G316A Missense 7/16 - 1
11-2604690-G-T c.947G>T p.G316V Missense 7/16 - 1
11-2604692-G-A c.949G>A p.D317N Missense 7/16 - 7
11-2604692-G-T c.949G>T p.D317Y Missense 7/16 - 1
11-2604693-A-C c.950A>C p.D317A Missense 7/16 - 2
11-2604693-A-G c.950A>G p.D317G Missense 7/16 - 2
11-2604695-AA-GC c.952_953delinsGC p.K318A Missense 7/16 - 1
11-2604696-AG-TC c.953_954delinsTC p.K318I Missense 7/16 - 2
11-2604697-G-C c.954G>C p.K318N Missense 7/16 - 2
11-2604697-G-T c.954G>T p.K318N Missense 7/16 - 2
11-2604698-G-A c.955G>A p.V319M Missense 7/16 - 1
11-2604698-G-C c.955G>C p.V319L Missense 7/16 - 1
11-2604698-G-T c.955G>T p.V319L Missense 7/16 - 1
11-2604698-GT-AC c.955_956inv p.V319T Missense 7/16 - 1
11-2604698-GTG-TAT c.955_957delinsTAT p.V319Y Missense 7/16 - 4
11-2604698-GTG-TGT c.955_957delinsTGT p.V319C Missense 7/16 - 2
11-2604699-T-C c.956T>C p.V319A Missense 7/16 - 1
11-2604701-C-G c.958C>G p.P320A Missense 7/16 - 5
11-2604701-C-T c.958C>T p.P320S Missense 7/16 - 2
11-2604702-C-A c.959C>A p.P320H Missense 7/16 - 5
11-2604704-CA-GC c.961_962delinsGC p.Q321A Missense 7/16 - 1
11-2604707-A-G c.964A>G p.T322A Missense 7/16 - 9
11-2604708-C-A c.965C>A p.T322K Missense 7/16 - 1
11-2604708-C-T c.965C>T p.T322M Missense 7/16 - 13
11-2604710-TG-GC c.967_968delinsGC p.W323A Missense 7/16 - 2
11-2604711-G-A c.968G>A p.W323* Nonsense 7/16 - 1
11-2604711-GG-TT c.968_969delinsTT p.W323F Missense 7/16 - 1
11-2604711-G-T c.968G>T p.W323L Missense 7/16 - 1
11-2604712-G-A c.969G>A p.W323* Nonsense 7/16 - 2
11-2604712-G-C c.969G>C p.W323C Missense 7/16 - 1
11-2604712-G-T c.969G>T p.W323C Missense 7/16 - 1
11-2604713-G-C c.970G>C p.V324L Missense 7/16 - 2
11-2604713-GT-TG c.970_971delinsTG p.V324C Missense 7/16 - 3
11-2604714-T-C c.971T>C p.V324A Missense 7/16 - 2
11-2604716-G-A c.973G>A p.G325R Missense 7/16 - 11
11-2604716-G-C c.973G>C p.G325R Missense 7/16 - 4
11-2604716-G-T c.973G>T p.G325W Missense 7/16 - 2
11-2604717-G-A c.974G>A p.G325E Missense 7/16 - 1
11-2604717-G-C c.974G>C p.G325A Missense 7/16 - 1
11-2604719-AA-GC c.976_977delinsGC p.K326A Missense 7/16 - 1
11-2604719-AAG-TGT c.976_978delinsTGT p.K326C Missense 7/16 - 1
11-2604719-A-C c.976A>C p.K326Q Missense 7/16 - 2
11-2604719-A-G c.976A>G p.K326E Missense 7/16 - 1
11-2604720-A-G c.977A>G p.K326R Missense 7/16 - 2
11-2604722-AC-GT c.979_980inv p.T327V Missense 7/16 - 2
11-2604722-A-G c.979A>G p.T327A Missense 7/16 - 1
11-2604725-A-C c.982A>C p.I328L Missense 7/16 - 1
11-2604725-AT-GC c.982_983delinsGC p.I328A Missense 7/16 - 1
11-2604731-T-G c.988T>G p.S330A Missense 7/16 - 1
11-2604728-GCCT-G c.989_991del p.S330del InFrameDeletion 7/16 - 1
11-2604734-T-A c.991T>A p.C331S Missense 7/16 - 2
11-2604734-TG-GC c.991_992delinsGC p.C331A Missense 7/16 - 20
11-2604735-G-C c.992G>C p.C331S Missense 7/16 - 2
11-2604737-TT-GC c.994_995delinsGC p.F332A Missense 7/16 - 7
11-2604740-T-G c.997T>G p.S333A Missense 7/16 - 1
11-2604743-G-A c.1000G>A p.V334I Missense 7/16 - 2
11-2604744-T-C c.1001T>C p.V334A Missense 7/16 - 2
11-2604746-T-C c.1003T>C p.F335L Missense 7/16 - 1
11-2604746-TT-GC c.1003_1004delinsGC p.F335A Missense 7/16 - 4
11-2604748-T-A c.1005T>A p.F335L Missense 7/16 - 1
11-2604748-T-G c.1005T>G p.F335L Missense 7/16 - 1
11-2604745-CTT-C c.1004_1005del p.F335Cfs*127 Frameshift 7/16 - 1
11-2604749-GC-TG c.1006_1007delinsTG p.A336C Missense 7/16 - 2
11-2604749-GC-G c.1008del p.I337Sfs*17 Frameshift 7/16 - 1
11-2604751-C-A c.1008C>A p.A336= Synonymous 7/16 - 1
11-2604751-C-G c.1008C>G p.A336= Synonymous 7/16 - 1
11-2604751-C-T c.1008C>T p.A336= Synonymous 7/16 - 1
11-2604752-A-G c.1009A>G p.I337V Missense 7/16 - 3
11-2604752-AT-GC c.1009_1010delinsGC p.I337A Missense 7/16 - 3
11-2604755-T-A c.1012T>A p.S338T Missense 7/16 - 1
11-2604755-T-G c.1012T>G p.S338A Missense 7/16 - 4
11-2604756-CC-GG c.1013_1014inv p.S338W Missense 7/16 - 4
11-2604756-C-G c.1013C>G p.S338C Missense 7/16 - 3
11-2604756-C-T c.1013C>T p.S338F Missense 7/16 - 9
11-2604758-T-G c.1015T>G p.F339V Missense 7/16 - 1
11-2604758-TT-GC c.1015_1016delinsGC p.F339A Missense 7/16 - 4
11-2604759-T-A c.1016T>A p.F339Y Missense 7/16 - 1
11-2604759-T-C c.1016T>C p.F339S Missense 7/16 - 9
11-2604759-TC-GG c.1016_1017delinsGG p.F339W Missense 7/16 - 1
11-2604759-T-G c.1016T>G p.F339C Missense 7/16 - 2
11-2604756-CCTT-C c.1017_1019del p.F340del InFrameDeletion 7/16 - 2
11-2604761-CTTT-C c.1018_1020del p.F340del InFrameDeletion 7/16 - 1
11-2604761-T-C c.1018T>C p.F340L Missense 7/16 - 4
11-2604761-T-G c.1018T>G p.F340V Missense 7/16 - 3
11-2604761-TT-GC c.1018_1019delinsGC p.F340A Missense 7/16 - 5
11-2604761-TTT-CAA c.1018_1020delinsCAA p.F340Q Missense 7/16 - 1
11-2604763-T-A c.1020T>A p.F340L Missense 7/16 - 2
11-2604763-T-G c.1020T>G p.F340L Missense 7/16 - 2
11-2604762-T-G c.1019T>G p.F340C Missense 7/16 - 4
11-2604762-TT-GG c.1019_1020delinsGG p.F340W Missense 7/16 - 7
11-2604764-GCG-TGT c.1021_1023delinsTGT p.A341C Missense 7/16 - 3
11-2604765-C-A c.1022C>A p.A341E Missense 7/16 - 16
11-2604765-C-G c.1022C>G p.A341G Missense 7/16 - 3
11-2604765-C-T c.1022C>T p.A341V Missense 7/16 - 80
11-2604767-C-T c.1024C>T p.L342F Missense 7/16 - 6
11-2604767-CT-GC c.1024_1025delinsGC p.L342A Missense 7/16 - 3
11-2604770-C-G c.1027C>G p.P343A Missense 7/16 - 3
11-2604770-C-T c.1027C>T p.P343S Missense 7/16 - 2
11-2604771-C-G c.1028C>G p.P343R Missense 7/16 - 2
11-2604771-C-T c.1028C>T p.P343L Missense 7/16 - 2
11-2604773-GC-CA c.1030_1031delinsCA p.A344Q Missense 7/16 - 1
11-2604773-GCG-TGT c.1030_1032delinsTGT p.A344C Missense 7/16 - 2
11-2604773-G-T c.1030G>T p.A344S Missense 7/16 - 1
11-2604774-C-A c.1031C>A p.A344E Missense 7/16 - 4
11-2604774-C-T c.1031C>T p.A344V Missense 7/16 - 15
11-2604775-G-A c.1032G>A p.A344= Synonymous 7/16 - 17
11-2604775-G-C c.1032G>C p.A344= Synonymous 7/16 - 10
11-2604775-G-T c.1032G>T p.A344= Synonymous 7/16 - 10
11-2604776-G-A c.1032+1G>A - IntronicSNV - 7/15 3
11-2604778-A-G c.1032+3A>G - IntronicSNV - 7/15 1
11-2606442-G-A c.1033G>A p.G345R Missense 8/16 - 2
11-2606442-G-C c.1033G>C p.G345R Missense 8/16 - 2
11-2606443-G-A c.1034G>A p.G345E Missense 8/16 - 9
11-2606443-G-C c.1034G>C p.G345A Missense 8/16 - 3
11-2606445-AT-GC c.1036_1037delinsGC p.I346A Missense 8/16 - 3
11-2606448-C-T c.1039C>T p.L347F Missense 8/16 - 1
11-2606448-CT-GC c.1039_1040delinsGC p.L347A Missense 8/16 - 2
11-2606449-T-C c.1040T>C p.L347P Missense 8/16 - 2
11-2606449-T-G c.1040T>G p.L347R Missense 8/16 - 1
11-2606451-GGC-TGG c.1042_1044delinsTGG p.G348W Missense 8/16 - 2
11-2606452-G-A c.1043G>A p.G348D Missense 8/16 - 2
11-2606452-G-C c.1043G>C p.G348A Missense 8/16 - 3
11-2606454-T-C c.1045T>C p.S349P Missense 8/16 - 2
11-2606454-T-G c.1045T>G p.S349A Missense 8/16 - 5
11-2606455-C-G c.1046C>G p.S349W Missense 8/16 - 10
11-2606457-G-A c.1048G>A p.G350R Missense 8/16 - 3
11-2606457-G-C c.1048G>C p.G350R Missense 8/16 - 2
11-2606457-G-T c.1048G>T p.G350W Missense 8/16 - 1
11-2606458-G-C c.1049G>C p.G350A Missense 8/16 - 3
11-2606458-G-T c.1049G>T p.G350V Missense 8/16 - 1
11-2606460-T-C c.1051T>C p.F351L Missense 8/16 - 3
11-2606460-TT-GC c.1051_1052delinsGC p.F351A Missense 8/16 - 19
11-2606462-T-A c.1053T>A p.F351L Missense 8/16 - 3
11-2606462-T-G c.1053T>G p.F351L Missense 8/16 - 3
11-2606461-T-C c.1052T>C p.F351S Missense 8/16 - 3
11-2606463-GCC-TGG c.1054_1056delinsTGG p.A352W Missense 8/16 - 2
11-2606466-CT-AA c.1057_1058delinsAA p.L353K Missense 8/16 - 8
11-2606466-CT-GA c.1057_1058delinsGA p.L353E Missense 8/16 - 3
11-2606466-CT-GC c.1057_1058delinsGC p.L353A Missense 8/16 - 8
11-2606466-CTG-TGT c.1057_1059delinsTGT p.L353C Missense 8/16 - 1
11-2606466-CT-TG c.1057_1058delinsTG p.L353W Missense 8/16 - 2
11-2606467-T-C c.1058T>C p.L353P Missense 8/16 - 4
11-2606466-C-T c.1057C>T p.L353= Synonymous 8/16 - 2
11-2606468-G-A c.1059G>A p.L353= Synonymous 8/16 - 3
11-2606468-G-C c.1059G>C p.L353= Synonymous 8/16 - 2
11-2606468-G-T c.1059G>T p.L353= Synonymous 8/16 - 2
11-2606469-AA-GC c.1060_1061delinsGC p.K354A Missense 8/16 - 5
11-2606469-AAG-TGT c.1060_1062delinsTGT p.K354C Missense 8/16 - 1
11-2606469-A-G c.1060A>G p.K354E Missense 8/16 - 1
11-2606470-A-G c.1061A>G p.K354R Missense 8/16 - 2
11-2606471-G-C c.1062G>C p.K354N Missense 8/16 - 1
11-2606471-G-T c.1062G>T p.K354N Missense 8/16 - 1
11-2606472-GT-TG c.1063_1064delinsTG p.V355W Missense 8/16 - 2
11-2606473-T-C c.1064T>C p.V355A Missense 8/16 - 2
11-2606473-TGCAGCA-T c.1066_1071del p.Q356_Q357del InFrameDeletion 8/16 - 2
11-2606475-CA-GC c.1066_1067delinsGC p.Q356A Missense 8/16 - 1
11-2606475-C-T c.1066C>T p.Q356* Nonsense 8/16 - 4
11-2606478-CA-GC c.1069_1070delinsGC p.Q357A Missense 8/16 - 1
11-2606478-CA-TG c.1069_1070inv p.Q357W Missense 8/16 - 1
11-2606479-A-G c.1070A>G p.Q357R Missense 8/16 - 15
11-2606480-G-C c.1071G>C p.Q357H Missense 8/16 - 1
11-2606480-G-T c.1071G>T p.Q357H Missense 8/16 - 1
11-2606481-AA-GC c.1072_1073delinsGC p.K358A Missense 8/16 - 6
11-2606481-AAG-TGT c.1072_1074delinsTGT p.K358C Missense 8/16 - 1
11-2606481-A-G c.1072A>G p.K358E Missense 8/16 - 2
11-2606483-G-C c.1074G>C p.K358N Missense 8/16 - 2
11-2606483-G-T c.1074G>T p.K358N Missense 8/16 - 2
11-2606484-CA-GC c.1075_1076delinsGC p.Q359A Missense 8/16 - 1
11-2606484-C-T c.1075C>T p.Q359* Nonsense 8/16 - 3
11-2606476-AGCAGAAGCAGAG-A c.1077_1088del p.Q359_K362del InFrameDeletion 8/16 - 1
11-2606487-A-G c.1078A>G p.R360G Missense 8/16 - 6
11-2606487-AG-CA c.1078_1079delinsCA p.R360Q Missense 8/16 - 1
11-2606487-AG-GA c.1078_1079delinsGA p.R360E Missense 8/16 - 3
11-2606487-AG-GC c.1078_1079delinsGC p.R360A Missense 8/16 - 7
11-2606487-AGG-TGT c.1078_1080delinsTGT p.R360C Missense 8/16 - 1
11-2606488-G-C c.1079G>C p.R360T Missense 8/16 - 4
11-2606488-G-T c.1079G>T p.R360M Missense 8/16 - 3
11-2606490-CA-GC c.1081_1082delinsGC p.Q361A Missense 8/16 - 1
11-2606486-G-GAGGCAAAAGCAA c.1082_1083insAAAGCAAAGGCA p.Q359_K362dup InFrameInsertion 8/16 - 1
11-2606493-AA-GC c.1084_1085delinsGC p.K362A Missense 8/16 - 6
11-2606493-AAG-TGT c.1084_1086delinsTGT p.K362C Missense 8/16 - 1
11-2606493-A-G c.1084A>G p.K362E Missense 8/16 - 2
11-2606494-A-G c.1085A>G p.K362R Missense 8/16 - 11
11-2606495-G-C c.1086G>C p.K362N Missense 8/16 - 1
11-2606495-G-T c.1086G>T p.K362N Missense 8/16 - 1
11-2606496-C-A c.1087C>A p.H363N Missense 8/16 - 5
11-2606496-CA-TG c.1087_1088inv p.H363C Missense 8/16 - 3
11-2606502-AA-GC c.1093_1094delinsGC p.N365A Missense 8/16 - 1
11-2606502-A-C c.1093A>C p.N365H Missense 8/16 - 1
11-2606505-C-A c.1096C>A p.R366= Synonymous 8/16 - 1
11-2606505-CG-GA c.1096_1097delinsGA p.R366E Missense 8/16 - 1
11-2606505-CG-TA c.1096_1097delinsTA p.R366* Nonsense 8/16 - 1
11-2606505-C-T c.1096C>T p.R366W Missense 8/16 - 9
11-2606506-G-A c.1097G>A p.R366Q Missense 8/16 - 9
11-2606506-G-C c.1097G>C p.R366P Missense 8/16 - 1
11-2606510-G-C c.1101G>C p.Q367H Missense 8/16 - 2
11-2606510-G-T c.1101G>T p.Q367H Missense 8/16 - 2
11-2606511-A-AT c.1103dup p.A370Gfs*93 Frameshift 8/16 - 1
11-2606512-T-G c.1103T>G p.I368S Missense 8/16 - 1
11-2606514-CCG-TGT c.1105_1107delinsTGT p.P369C Missense 8/16 - 2
11-2606514-C-G c.1105C>G p.P369A Missense 8/16 - 1
11-2606514-C-T c.1105C>T p.P369S Missense 8/16 - 1
11-2606515-C-G c.1106C>G p.P369R Missense 8/16 - 1
11-2606515-C-T c.1106C>T p.P369L Missense 8/16 - 3
11-2606517-GCG-TGT c.1108_1110delinsTGT p.A370C Missense 8/16 - 1
11-2606517-GC-TG c.1108_1109delinsTG p.A370W Missense 8/16 - 1
11-2606518-C-T c.1109C>T p.A370V Missense 8/16 - 4
11-2606519-G-A c.1110G>A p.A370= Synonymous 8/16 - 2
11-2606519-G-C c.1110G>C p.A370= Synonymous 8/16 - 1
11-2606519-G-T c.1110G>T p.A370= Synonymous 8/16 - 1
11-2606520-G-A c.1111G>A p.A371T Missense 8/16 - 6
11-2606524-C-A c.1115C>A p.A372D Missense 8/16 - 4
11-2606526-T-C c.1117T>C p.S373P Missense 8/16 - 10
11-2606530-T-A c.1121T>A p.L374H Missense 8/16 - 1
11-2606537-G-A c.1128G>A p.Q376= Synonymous 8/16 - 1
11-2606538-G-T c.1128+1G>T - IntronicSNV - 8/15 1
11-2606540-G-A c.1128+3G>A - IntronicSNV - 8/15 1
11-2606542-G-A c.1128+5G>A - IntronicSNV - 8/15 2
11-2608806-T-A c.1135T>A p.W379R Missense 9/16 - 2
11-2608806-T-C c.1135T>C p.W379R Missense 9/16 - 2
11-2608806-T-G c.1135T>G p.W379G Missense 9/16 - 1
11-2608807-G-C c.1136G>C p.W379S Missense 9/16 - 4
11-2608808-G-A c.1137G>A p.W379* Nonsense 9/16 - 1
11-2608809-A-G c.1138A>G p.R380G Missense 9/16 - 2
11-2608811-G-C c.1140G>C p.R380S Missense 9/16 - 5
11-2608811-G-T c.1140G>T p.R380S Missense 9/16 - 6
11-2608812-T-A c.1141T>A p.C381S Missense 9/16 - 1
11-2608813-G-C c.1142G>C p.C381S Missense 9/16 - 1
11-2608824-G-A c.1153G>A p.E385K Missense 9/16 - 1
11-2608836-T-C c.1165T>C p.S389P Missense 9/16 - 2
11-2608837-C-A c.1166C>A p.S389Y Missense 9/16 - 2
11-2608843-C-T c.1172C>T p.T391I Missense 9/16 - 6
11-2608845-T-A c.1174T>A p.W392R Missense 9/16 - 8
11-2608845-T-C c.1174T>C p.W392R Missense 9/16 - 8
11-2608849-A-T c.1178A>T p.K393M Missense 9/16 - 2
11-2608850-G-C c.1179G>C p.K393N Missense 9/16 - 8
11-2608850-G-T c.1179G>T p.K393N Missense 9/16 - 11
11-2608855-A-C c.1184A>C p.Y395S Missense 9/16 - 1
11-2608859-C-A c.1188C>A p.I396= Synonymous 9/16 - 1
11-2608859-C-T c.1188C>T p.I396= Synonymous 9/16 - 1
11-2608860-CGG-AAC c.1189_1191delinsAAC p.R397N Missense 9/16 - 1
11-2608860-C-T c.1189C>T p.R397W Missense 9/16 - 13
11-2608861-G-A c.1190G>A p.R397Q Missense 9/16 - 4
11-2608864-A-G c.1193A>G p.K398R Missense 9/16 - 1
11-2608866-G-T c.1195G>T p.A399S Missense 9/16 - 2
11-2608866-G-GC c.1201dup p.R401Pfs*62 Frameshift 9/16 - 4
11-2608872-CGG-AAC c.1201_1203delinsAAC p.R401N Missense 9/16 - 1
11-2608872-CG-TA c.1201_1202delinsTA p.R401* Nonsense 9/16 - 1
11-2608872-C-T c.1201C>T p.R401W Missense 9/16 - 1
11-2608873-G-GC c.1202_1203insC p.S402Efs*61 Frameshift 9/16 - 1
11-2608878-C-T c.1207C>T p.H403Y Missense 9/16 - 1
11-2608887-C-T c.1216C>T p.L406= Synonymous 9/16 - 1
11-2608890-TCA-GAC c.1219_1221delinsGAC p.S407D Missense 9/16 - 1
11-2608890-T-G c.1219T>G p.S407A Missense 9/16 - 1
11-2608893-C-G c.1222C>G p.P408A Missense 9/16 - 4
11-2608896-AG-GA c.1225_1226delinsGA p.S409D Missense 9/16 - 1
11-2608896-AG-GC c.1225_1226delinsGC p.S409A Missense 9/16 - 1
11-2608897-G-A c.1226G>A p.S409N Missense 9/16 - 1
11-2608899-C-G c.1228C>G p.P410A Missense 9/16 - 1
11-2608903-A-G c.1232A>G p.K411R Missense 9/16 - 1
11-2608905-C-T c.1234C>T p.P412S Missense 9/16 - 2
11-2608907-C-T c.1236C>T p.P412= Synonymous 9/16 - 1
11-2608920-G-A c.1249G>A p.V417M Missense 9/16 - 2
11-2608923-G-A c.1251+1G>A - IntronicSNV - 9/15 1
11-2608924-T-C c.1251+2T>C - IntronicSNV - 9/15 1
11-2608926-A-G c.1251+4A>G - IntronicSNV - 9/15 1
11-2609948-G-C c.1257G>C p.K419N Missense 10/16 - 1
11-2609948-G-T c.1257G>T p.K419N Missense 10/16 - 1
11-2609952-A-G c.1261A>G p.K421E Missense 10/16 - 1
11-2609953-AAAAAGTT-A c.1262_1268del p.K421Tfs*9 Frameshift 10/16 - 1
11-2609948-GA-G c.1265del p.K422Sfs*10 Frameshift 10/16 - 1
11-2609956-A-C c.1265A>C p.K422T Missense 10/16 - 2
11-2609961-A-C c.1270A>C p.K424Q Missense 10/16 - 1
11-2609968-A-G c.1277A>G p.D426G Missense 10/16 - 1
11-2609973-G-A c.1282G>A p.D428N Missense 10/16 - 1
11-2609974-A-G c.1283A>G p.D428G Missense 10/16 - 1
11-2609979-GGG-TTT c.1288_1290delinsTTT p.G430F Missense 10/16 - 1
11-2609985-A-T c.1294A>T p.T432S Missense 10/16 - 1
11-2609986-C-G c.1295C>G p.T432S Missense 10/16 - 1
11-2609990-T-A c.1299T>A p.P433= Synonymous 10/16 - 1
11-2610000-A-G c.1309A>G p.M437V Missense 10/16 - 4
11-2610003-C-CT c.1313dup p.T439Hfs*24 Frameshift 10/16 - 1
11-2610006-AC-GT c.1315_1316inv p.T439V Missense 10/16 - 2
11-2610006-A-T c.1315A>T p.T439S Missense 10/16 - 1
11-2610010-GT-G c.1319del p.V440Afs*26 Frameshift 10/16 - 1
11-2610012-C-T c.1321C>T p.P441S Missense 10/16 - 2
11-2610022-C-T c.1331C>T p.T444M Missense 10/16 - 1
11-2610024-T-A c.1333T>A p.C445S Missense 10/16 - 1
11-2610024-TGC-AA c.1333_1335delinsAA p.C445Kfs*21 Frameshift 10/16 - 1
11-2610025-G-C c.1334G>C p.C445S Missense 10/16 - 1
11-2610027-G-A c.1336G>A p.D446N Missense 10/16 - 1
11-2610029-C-A c.1338C>A p.D446E Missense 10/16 - 2
11-2610029-C-G c.1338C>G p.D446E Missense 10/16 - 2
11-2610028-A-AC c.1343dup p.E449Rfs*14 Frameshift 10/16 - 4
11-2610034-C-A c.1343C>A p.P448Q Missense 10/16 - 1
11-2610034-C-G c.1343C>G p.P448R Missense 10/16 - 22
11-2610034-C-T c.1343C>T p.P448L Missense 10/16 - 3
11-2610042-C-T c.1351C>T p.R451W Missense 10/16 - 1
11-2610043-G-A c.1352G>A p.R451Q Missense 10/16 - 4
11-2610045-CGG-TGT c.1354_1356delinsTGT p.R452C Missense 10/16 - 1
11-2610045-C-T c.1354C>T p.R452W Missense 10/16 - 5
11-2610046-G-A c.1355G>A p.R452Q Missense 10/16 - 1
11-2610054-C-T c.1363C>T p.H455Y Missense 10/16 - 4
11-2610060-TC-GA c.1369_1370inv p.S457D Missense 10/16 - 1
11-2610060-T-G c.1369T>G p.S457A Missense 10/16 - 1
11-2610061-C-T c.1370C>T p.S457F Missense 10/16 - 1
11-2610067-A-C c.1376A>C p.D459A Missense 10/16 - 1
11-2610069-G-A c.1378G>A p.G460S Missense 10/16 - 8
11-2610069-G-T c.1378G>T p.G460C Missense 10/16 - 1
11-2610074-T-A c.1383T>A p.Y461* Nonsense 10/16 - 2
11-2610074-T-G c.1383T>G p.Y461* Nonsense 10/16 - 2
11-2610075-G-A c.1384G>A p.D462N Missense 10/16 - 1
11-2610081-T-A c.1390T>A p.S464T Missense 10/16 - 1
11-2610085-G-A c.1393+1G>A - IntronicSNV - 10/15 1
11-2611449-C-A c.1393+1365C>A - IntronicSNV - 10/15 1
11-2611449-C-T c.1393+1365C>T - IntronicSNV - 10/15 1
11-2618110-G-A c.1393+8026G>A - IntronicSNV - 10/15 1
11-2619630-A-G c.1393+9546A>G - IntronicSNV - 10/15 2
11-2619630-A-T c.1393+9546A>T - IntronicSNV - 10/15 2
11-2632430-C-G c.1393+22346C>G - IntronicSNV - 10/15 1
11-2632553-C-A c.1393+22469C>A - IntronicSNV - 10/15 1
11-2632553-C-G c.1393+22469C>G - IntronicSNV - 10/15 1
11-2633152-A-G c.1393+23068A>G - IntronicSNV - 10/15 1
11-2633715-G-A c.1393+23631G>A - IntronicSNV - 10/15 1
11-2633715-G-C c.1393+23631G>C - IntronicSNV - 10/15 1
11-2634177-G-T c.1393+24093G>T - IntronicSNV - 10/15 1
11-2638081-T-C c.1393+27997T>C - IntronicSNV - 10/15 2
11-2639712-G-A c.1393+29628G>A - IntronicSNV - 10/15 1
11-2640824-G-A c.1393+30740G>A - IntronicSNV - 10/15 3
11-2642037-A-G c.1393+31953A>G - IntronicSNV - 10/15 2
11-2644544-G-A c.1393+34460G>A - IntronicSNV - 10/15 1
11-2644544-G-C c.1393+34460G>C - IntronicSNV - 10/15 1
11-2652657-T-G c.1394-30534T>G - IntronicSNV - 10/15 1
11-2654673-G-A c.1394-28518G>A - IntronicSNV - 10/15 1
11-2663891-G-A c.1394-19300G>A - IntronicSNV - 10/15 1
11-2663891-G-T c.1394-19300G>T - IntronicSNV - 10/15 1
11-2672821-C-T c.1394-10370C>T - IntronicSNV - 10/15 1
11-2673575-G-A c.1394-9616G>A - IntronicSNV - 10/15 2
11-2673681-C-T c.1394-9510C>T - IntronicSNV - 10/15 2
11-2680315-G-A c.1394-2876G>A - IntronicSNV - 10/15 1
11-2680815-C-T c.1394-2376C>T - IntronicSNV - 10/15 1
11-2681118-T-G c.1394-2073T>G - IntronicSNV - 10/15 2
11-2681632-A-C c.1394-1559A>C - IntronicSNV - 10/15 1
11-2683152-T-C c.1394-39T>C - IntronicSNV - 10/15 2
11-2683152-T-G c.1394-39T>G - IntronicSNV - 10/15 2
11-2683177-C-T c.1394-14C>T - IntronicSNV - 10/15 1
11-2683190-G-T c.1394-1G>T - IntronicSNV - 10/15 2
11-2683199-AG-GA c.1402_1403delinsGA p.S468D Missense 11/16 - 2
11-2683199-AG-GC c.1402_1403delinsGC p.S468A Missense 11/16 - 2
11-2683205-ACA-GAC c.1408_1410delinsGAC p.T470D Missense 11/16 - 1
11-2683205-A-G c.1408A>G p.T470A Missense 11/16 - 2
11-2683217-GTG-TGT c.1420_1422delinsTGT p.V474C Missense 11/16 - 1
11-2683220-AGCAT-A c.1426_1429del p.M476Pfs*4 Frameshift 11/16 - 1
11-2683227-C-T c.1430C>T p.P477L Missense 11/16 - 1
11-2683232-T-C c.1435T>C p.F479L Missense 11/16 - 1
11-2683234-C-A c.1437C>A p.F479L Missense 11/16 - 1
11-2683234-C-G c.1437C>G p.F479L Missense 11/16 - 1
11-2683239-G-A c.1442G>A p.R481K Missense 11/16 - 1
11-2683241-AC-GA c.1444_1445delinsGA p.T482D Missense 11/16 - 1
11-2683241-A-G c.1444A>G p.T482A Missense 11/16 - 1
11-2683247-AG-GA c.1450_1451delinsGA p.S484D Missense 11/16 - 2
11-2683247-AG-GC c.1450_1451delinsGC p.S484A Missense 11/16 - 2
11-2683252-C-T c.1455C>T p.F485= Synonymous 11/16 - 1
11-2683259-G-A c.1462G>A p.D488N Missense 11/16 - 1
11-2683265-G-A c.1468G>A p.D490N Missense 11/16 - 1
11-2683273-A-AG c.1480dup p.E494Gfs*22 Frameshift 11/16 - 1
11-2683280-ACT-A c.1486_1487del p.L496Afs*19 Frameshift 11/16 - 2
11-2683286-C-T c.1489C>T p.L497= Synonymous 11/16 - 1
11-2683289-A-G c.1492A>G p.T498A Missense 11/16 - 1
11-2683303-AC-A c.1506del p.H502Qfs*91 Frameshift 11/16 - 1
11-2683303-C-G c.1506C>G p.H502Q Missense 11/16 - 1
11-2683309-A-C c.1512A>C p.S504= Synonymous 11/16 - 1
11-2683309-A-G c.1512A>G p.S504= Synonymous 11/16 - 1
11-2683309-A-T c.1512A>T p.S504= Synonymous 11/16 - 1
11-2683329-C-T c.1514+18C>T - IntronicSNV - 11/15 2
11-2683357-A-G c.1514+46A>G - IntronicSNV - 11/15 8
11-2685864-T-C c.1514+2553T>C - IntronicSNV - 11/15 1
11-2688526-G-A c.1514+5215G>A - IntronicSNV - 11/15 3
11-2690293-A-C c.1514+6982A>C - IntronicSNV - 11/15 1
11-2690293-A-G c.1514+6982A>G - IntronicSNV - 11/15 1
11-2690531-T-C c.1514+7220T>C - IntronicSNV - 11/15 2
11-2691471-A-G c.1514+8160A>G - IntronicSNV - 11/15 108
11-2691500-G-A c.1514+8189G>A - IntronicSNV - 11/15 24
11-2692249-C-G c.1514+8938C>G - IntronicSNV - 11/15 2
11-2692249-C-T c.1514+8938C>T - IntronicSNV - 11/15 2
11-2694606-C-A c.1514+11295C>A - IntronicSNV - 11/15 8
11-2695042-C-T c.1514+11731C>T - IntronicSNV - 11/15 1
11-2696744-A-G c.1514+13433A>G - IntronicSNV - 11/15 4
11-2700161-A-G c.1514+16850A>G - IntronicSNV - 11/15 2
11-2702513-C-T c.1514+19202C>T - IntronicSNV - 11/15 1
11-2705175-A-G c.1514+21864A>G - IntronicSNV - 11/15 7
11-2705175-A-T c.1514+21864A>T - IntronicSNV - 11/15 7
11-2705343-A-G c.1514+22032A>G - IntronicSNV - 11/15 12
11-2705343-A-T c.1514+22032A>T - IntronicSNV - 11/15 12
11-2706327-G-C c.1514+23016G>C - IntronicSNV - 11/15 1
11-2706351-T-C c.1514+23040T>C - IntronicSNV - 11/15 5
11-2709019-A-G c.1514+25708A>G - IntronicSNV - 11/15 3
11-2709733-T-A c.1514+26422T>A - IntronicSNV - 11/15 1
11-2709733-T-C c.1514+26422T>C - IntronicSNV - 11/15 1
11-2710822-T-C c.1514+27511T>C - IntronicSNV - 11/15 4
11-2710822-T-G c.1514+27511T>G - IntronicSNV - 11/15 4
11-2712286-A-G c.1514+28975A>G - IntronicSNV - 11/15 2
11-2713649-C-A c.1514+30338C>A - IntronicSNV - 11/15 1
11-2715455-G-A c.1514+32144G>A - IntronicSNV - 11/15 1
11-2715532-T-G c.1514+32221T>G - IntronicSNV - 11/15 1
11-2717051-A-T c.1514+33740A>T - IntronicSNV - 11/15 1
11-2717293-T-C c.1514+33982T>C - IntronicSNV - 11/15 4
11-2717680-C-T c.1514+34369C>T - IntronicSNV - 11/15 3
11-2720542-G-A c.1514+37231G>A - IntronicSNV - 11/15 1
11-2721157-G-A c.1514+37846G>A - IntronicSNV - 11/15 1
11-2721394-C-A c.1514+38083C>A - IntronicSNV - 11/15 1
11-2721394-C-G c.1514+38083C>G - IntronicSNV - 11/15 1
11-2721406-A-C c.1514+38095A>C - IntronicSNV - 11/15 1
11-2721406-A-G c.1514+38095A>G - IntronicSNV - 11/15 1
11-2721568-T-C c.1514+38257T>C - IntronicSNV - 11/15 5
11-2722085-G-A c.1514+38774G>A - IntronicSNV - 11/15 1
11-2723604-G-T c.1514+40293G>T - IntronicSNV - 11/15 4
11-2724130-C-T c.1514+40819C>T - IntronicSNV - 11/15 1
11-2725752-C-A c.1514+42441C>A - IntronicSNV - 11/15 1
11-2725779-G-C c.1514+42468G>C - IntronicSNV - 11/15 2
11-2725779-G-T c.1514+42468G>T - IntronicSNV - 11/15 2
11-2727185-C-G c.1514+43874C>G - IntronicSNV - 11/15 1
11-2727185-C-T c.1514+43874C>T - IntronicSNV - 11/15 1
11-2727517-T-C c.1514+44206T>C - IntronicSNV - 11/15 1
11-2729327-A-C c.1514+46016A>C - IntronicSNV - 11/15 1
11-2729340-C-T c.1514+46029C>T - IntronicSNV - 11/15 2
11-2731185-C-A c.1514+47874C>A - IntronicSNV - 11/15 2
11-2731185-C-T c.1514+47874C>T - IntronicSNV - 11/15 2
11-2736026-C-A c.1514+52715C>A - IntronicSNV - 11/15 1
11-2736183-A-C c.1514+52872A>C - IntronicSNV - 11/15 1
11-2736183-A-G c.1514+52872A>G - IntronicSNV - 11/15 1
11-2737905-A-G c.1515-52169A>G - IntronicSNV - 11/15 4
11-2743859-G-A c.1515-46215G>A - IntronicSNV - 11/15 1
11-2747905-C-G c.1515-42169C>G - IntronicSNV - 11/15 1
11-2748477-A-C c.1515-41597A>C - IntronicSNV - 11/15 1
11-2748477-A-G c.1515-41597A>G - IntronicSNV - 11/15 1
11-2751660-A-G c.1515-38414A>G - IntronicSNV - 11/15 1
11-2751979-G-T c.1515-38095G>T - IntronicSNV - 11/15 1
11-2752130-A-T c.1515-37944A>T - IntronicSNV - 11/15 1
11-2752183-C-A c.1515-37891C>A - IntronicSNV - 11/15 1
11-2752609-G-A c.1515-37465G>A - IntronicSNV - 11/15 1
11-2755334-A-G c.1515-34740A>G - IntronicSNV - 11/15 1
11-2755548-A-G c.1515-34526A>G - IntronicSNV - 11/15 4
11-2755548-A-T c.1515-34526A>T - IntronicSNV - 11/15 4
11-2755601-T-C c.1515-34473T>C - IntronicSNV - 11/15 7
11-2757985-C-A c.1515-32089C>A - IntronicSNV - 11/15 1
11-2757985-C-T c.1515-32089C>T - IntronicSNV - 11/15 1
11-2758192-A-C c.1515-31882A>C - IntronicSNV - 11/15 1
11-2759090-C-T c.1515-30984C>T - IntronicSNV - 11/15 1
11-2763228-T-C c.1515-26846T>C - IntronicSNV - 11/15 1
11-2764118-A-G c.1515-25956A>G - IntronicSNV - 11/15 1
11-2766234-G-A c.1515-23840G>A - IntronicSNV - 11/15 1
11-2767262-G-A c.1515-22812G>A - IntronicSNV - 11/15 1
11-2772878-C-G c.1515-17196C>G - IntronicSNV - 11/15 1
11-2772878-C-T c.1515-17196C>T - IntronicSNV - 11/15 1
11-2773405-T-C c.1515-16669T>C - IntronicSNV - 11/15 1
11-2773471-C-A c.1515-16603C>A - IntronicSNV - 11/15 1
11-2774374-A-G c.1515-15700A>G - IntronicSNV - 11/15 2
11-2781519-G-A c.1515-8555G>A - IntronicSNV - 11/15 5
11-2781670-T-C c.1515-8404T>C - IntronicSNV - 11/15 1
11-2781824-G-A c.1515-8250G>A - IntronicSNV - 11/15 1
11-2782581-T-C c.1515-7493T>C - IntronicSNV - 11/15 1
11-2782581-T-G c.1515-7493T>G - IntronicSNV - 11/15 1
11-2785623-A-G c.1515-4451A>G - IntronicSNV - 11/15 1
11-2786302-G-A c.1515-3772G>A - IntronicSNV - 11/15 2
11-2786302-G-T c.1515-3772G>T - IntronicSNV - 11/15 2
11-2787804-A-G c.1515-2270A>G - IntronicSNV - 11/15 1
11-2789062-A-G c.1515-1012A>G - IntronicSNV - 11/15 1
11-2789062-A-T c.1515-1012A>T - IntronicSNV - 11/15 1
11-2789856-A-G c.1515-218A>G - IntronicSNV - 11/15 1
11-2789955-A-G c.1515-119A>G - IntronicSNV - 11/15 5
11-2790019-G-A c.1515-55G>A - IntronicSNV - 11/15 5
11-2790019-G-T c.1515-55G>T - IntronicSNV - 11/15 5
11-2790090-C-T c.1531C>T p.R511W Missense 12/16 - 1
11-2790096-A-T c.1537A>T p.T513S Missense 12/16 - 1
11-2790097-C-G c.1538C>G p.T513S Missense 12/16 - 1
11-2790100-T-C c.1541T>C p.I514T Missense 12/16 - 1
11-2790106-T-A c.1547T>A p.V516D Missense 12/16 - 1
11-2790106-T-C c.1547T>C p.V516A Missense 12/16 - 1
11-2790109-T-C c.1550T>C p.I517T Missense 12/16 - 3
11-2790111-C-G c.1552C>G p.R518G Missense 12/16 - 2
11-2790111-C-T c.1552C>T p.R518* Nonsense 12/16 - 39
11-2790112-G-A c.1553G>A p.R518Q Missense 12/16 - 2
11-2790112-G-C c.1553G>C p.R518P Missense 12/16 - 1
11-2790114-C-T c.1555C>T p.R519C Missense 12/16 - 2
11-2790115-G-A c.1556G>A p.R519H Missense 12/16 - 1
11-2790118-T-G c.1559T>G p.M520R Missense 12/16 - 5
11-2790123-TA-GC c.1564_1565delinsGC p.Y522A Missense 12/16 - 1
11-2790124-A-C c.1565A>C p.Y522S Missense 12/16 - 2
11-2790124-A-G c.1565A>G p.Y522C Missense 12/16 - 1
11-2790125-C-A c.1566C>A p.Y522* Nonsense 12/16 - 1
11-2790125-C-G c.1566C>G p.Y522* Nonsense 12/16 - 1
11-2790129-G-A c.1570G>A p.V524M Missense 12/16 - 1
11-2790130-T-G c.1571T>G p.V524G Missense 12/16 - 6
11-2790132-G-A c.1573G>A p.A525T Missense 12/16 - 7
11-2790133-C-T c.1574C>T p.A525V Missense 12/16 - 1
11-2790135-A-G c.1576A>G p.K526E Missense 12/16 - 4
11-2790137-G-C c.1578G>C p.K526N Missense 12/16 - 4
11-2790137-G-T c.1578G>T p.K526N Missense 12/16 - 4
11-2790140-G-C c.1581G>C p.K527N Missense 12/16 - 2
11-2790140-G-T c.1581G>T p.K527N Missense 12/16 - 2
11-2790140-GA-G c.1584del p.K528Nfs*65 Frameshift 12/16 - 1
11-2790143-A-C c.1584A>C p.K528N Missense 12/16 - 2
11-2790143-A-T c.1584A>T p.K528N Missense 12/16 - 2
11-2790147-C-T c.1588C>T p.Q530* Nonsense 12/16 - 23
11-2790148-A-C c.1589A>C p.Q530P Missense 12/16 - 1
11-2790150-G-A c.1590+1G>A - IntronicSNV - 12/15 3
11-2790163-T-C c.1590+14T>C - IntronicSNV - 12/15 1
11-2790180-A-T c.1590+31A>T - IntronicSNV - 12/15 1
11-2790736-C-A c.1590+587C>A - IntronicSNV - 12/15 1
11-2790736-C-G c.1590+587C>G - IntronicSNV - 12/15 1
11-2794392-G-A c.1591-2798G>A - IntronicSNV - 12/15 1
11-2794998-A-G c.1591-2192A>G - IntronicSNV - 12/15 1
11-2797190-C-T c.1591C>T p.Q531* Nonsense 13/16 - 1
11-2797196-C-T c.1597C>T p.R533W Missense 13/16 - 8
11-2797197-G-A c.1598G>A p.R533Q Missense 13/16 - 1
11-2797202-C-A c.1603C>A p.P535T Missense 13/16 - 3
11-2797202-C-G c.1603C>G p.P535A Missense 13/16 - 1
11-2797208-G-A c.1609G>A p.D537N Missense 13/16 - 1
11-2797214-C-A c.1615C>A p.R539= Synonymous 13/16 - 1
11-2797214-CGG-TTT c.1615_1617delinsTTT p.R539F Missense 13/16 - 1
11-2797214-C-T c.1615C>T p.R539W Missense 13/16 - 19
11-2797216-G-A c.1617G>A p.R539= Synonymous 13/16 - 1
11-2797216-G-C c.1617G>C p.R539= Synonymous 13/16 - 1
11-2797216-G-T c.1617G>T p.R539= Synonymous 13/16 - 1
11-2797217-GAC-AAG c.1618_1620delinsAAG p.D540K Missense 13/16 - 2
11-2797217-GA-TG c.1618_1619delinsTG p.D540C Missense 13/16 - 2
11-2797226-G-A c.1627G>A p.E543K Missense 13/16 - 2
11-2797229-C-T c.1630C>T p.Q544* Nonsense 13/16 - 1
11-2797236-C-T c.1637C>T p.S546L Missense 13/16 - 5
11-2797237-G-A c.1638G>A p.S546= Synonymous 13/16 - 19
11-2797239-A-G c.1640A>G p.Q547R Missense 13/16 - 1
11-2797241-G-A c.1642G>A p.G548S Missense 13/16 - 1
11-2797242-G-A c.1643G>A p.G548D Missense 13/16 - 1
11-2797253-CT-AG c.1654_1655inv p.L552S Missense 13/16 - 2
11-2797260-T-C c.1661T>C p.V554A Missense 13/16 - 1
11-2797262-C-A c.1663C>A p.R555S Missense 13/16 - 1
11-2797262-C-T c.1663C>T p.R555C Missense 13/16 - 27
11-2797263-G-A c.1664G>A p.R555H Missense 13/16 - 12
11-2797268-A-G c.1669A>G p.K557E Missense 13/16 - 9
11-2797269-A-C c.1670A>C p.K557T Missense 13/16 - 1
11-2797275-TG-AT c.1676_1677delinsAT p.L559H Missense 13/16 - 1
11-2797277-CA-GC c.1678_1679delinsGC p.Q560A Missense 13/16 - 1
11-2797280-A-G c.1681A>G p.R561G Missense 13/16 - 2
11-2797284-G-T c.1685G>T p.R562M Missense 13/16 - 4
11-2797286-T-C c.1685+2T>C - IntronicSNV - 13/15 1
11-2797305-G-A c.1685+21G>A - IntronicSNV - 13/15 1
11-2797320-A-G c.1685+36A>G - IntronicSNV - 13/15 7
11-2797320-A-T c.1685+36A>T - IntronicSNV - 13/15 7
11-2797430-G-C c.1685+146G>C - IntronicSNV - 13/15 2
11-2798216-G-C c.1686G>C p.R562S Missense 14/16 - 1
11-2798216-G-T c.1686G>T p.R562S Missense 14/16 - 1
11-2798218-T-C c.1688T>C p.L563P Missense 14/16 - 1
11-2798221-A-G c.1691A>G p.D564G Missense 14/16 - 1
11-2798226-T-C c.1696T>C p.S566P Missense 14/16 - 1
11-2798227-C-A c.1697C>A p.S566Y Missense 14/16 - 4
11-2798227-C-T c.1697C>T p.S566F Missense 14/16 - 5
11-2798229-A-T c.1699A>T p.I567F Missense 14/16 - 1
11-2798230-T-C c.1700T>C p.I567T Missense 14/16 - 2
11-2798230-T-G c.1700T>G p.I567S Missense 14/16 - 3
11-2798232-G-A c.1702G>A p.G568R Missense 14/16 - 3
11-2798232-G-C c.1702G>C p.G568R Missense 14/16 - 1
11-2798233-G-C c.1703G>C p.G568A Missense 14/16 - 4
11-2798239-C-T c.1709C>T p.P570L Missense 14/16 - 1
11-2798247-T-C c.1717T>C p.F573L Missense 14/16 - 1
11-2798249-C-A c.1719C>A p.F573L Missense 14/16 - 1
11-2798249-C-G c.1719C>G p.F573L Missense 14/16 - 1
11-2798256-G-A c.1726G>A p.V576I Missense 14/16 - 2
11-2798305-T-C c.1732+43T>C - IntronicSNV - 14/15 6
11-2798448-A-G c.1732+186A>G - IntronicSNV - 14/15 1
11-2798804-A-C c.1733-402A>C - IntronicSNV - 14/15 3
11-2798843-GAG-GGGA c.1733-362_1733-361delinsGGA - IntronicBlockSubstitution - 14/15 1
11-2798849-C-T c.1733-357C>T - IntronicSNV - 14/15 1
11-2799207-AAAG-A c.1736_1738del p.K579del InFrameDeletion 15/16 - 1
11-2799214-A-T c.1741A>T p.K581* Nonsense 15/16 - 1
11-2799220-C-G c.1747C>G p.R583G Missense 15/16 - 1
11-2799220-CG-GC c.1747_1748delinsGC p.R583A Missense 15/16 - 1
11-2799220-C-T c.1747C>T p.R583C Missense 15/16 - 5
11-2799221-G-A c.1748G>A p.R583H Missense 15/16 - 3
11-2799221-GC-AA c.1748_1749delinsAA p.R583Q Missense 15/16 - 1
11-2799223-G-A c.1750G>A p.G584S Missense 15/16 - 1
11-2799229-A-G c.1756A>G p.N586D Missense 15/16 - 3
11-2799230-A-G c.1757A>G p.N586S Missense 15/16 - 1
11-2799233-C-G c.1760C>G p.T587R Missense 15/16 - 1
11-2799233-C-T c.1760C>T p.T587M Missense 15/16 - 22
11-2799238-G-A c.1765G>A p.G589S Missense 15/16 - 1
11-2799239-G-A c.1766G>A p.G589D Missense 15/16 - 61
11-2799241-G-A c.1768G>A p.A590T Missense 15/16 - 10
11-2799241-GCC-TAA c.1768_1770delinsTAA p.A590* Nonsense 15/16 - 1
11-2799241-GCC-TGG c.1768_1770delinsTGG p.A590W Missense 15/16 - 2
11-2799244-C-T c.1771C>T p.R591C Missense 15/16 - 4
11-2799245-G-A c.1772G>A p.R591H Missense 15/16 - 15
11-2799245-G-T c.1772G>T p.R591L Missense 15/16 - 3
11-2799247-CT-GG c.1774_1775delinsGG p.L592G Missense 15/16 - 1
11-2799252-C-A c.1779C>A p.N593K Missense 15/16 - 1
11-2799252-C-G c.1779C>G p.N593K Missense 15/16 - 1
11-2799253-CGA-TGT c.1780_1782delinsTGT p.R594C Missense 15/16 - 1
11-2799253-C-T c.1780C>T p.R594* Nonsense 15/16 - 4
11-2799254-G-A c.1781G>A p.R594Q Missense 15/16 - 35
11-2799254-G-C c.1781G>C p.R594P Missense 15/16 - 2
11-2799259-G-A c.1786G>A p.E596K Missense 15/16 - 1
11-2799265-AAG-GAC c.1792_1794delinsGAC p.K598D Missense 15/16 - 1
11-2799266-A-G c.1793A>G p.K598R Missense 15/16 - 2
11-2799267-G-A c.1794G>A p.K598= Synonymous 15/16 - 1
11-2799299-G-T c.1794+32G>T - IntronicSNV - 15/15 1
11-2799679-T-C c.1794+412T>C - IntronicSNV - 15/15 2
11-2799679-T-G c.1794+412T>G - IntronicSNV - 15/15 2
11-2799687-G-A c.1794+420G>A - IntronicSNV - 15/15 2
11-2799687-G-C c.1794+420G>C - IntronicSNV - 15/15 2
11-2799869-T-TG c.1794+605dup - IntronicInsertion - 15/15 2
11-2800669-C-T c.1794+1402C>T - IntronicSNV - 15/15 2
11-2802090-G-C c.1794+2823G>C - IntronicSNV - 15/15 4
11-2806329-T-C c.1794+7062T>C - IntronicSNV - 15/15 1
11-2806329-T-G c.1794+7062T>G - IntronicSNV - 15/15 1
11-2810731-C-T c.1794+11464C>T - IntronicSNV - 15/15 5
11-2813084-G-A c.1794+13817G>A - IntronicSNV - 15/15 1
11-2813084-G-C c.1794+13817G>C - IntronicSNV - 15/15 1
11-2813322-C-T c.1794+14055C>T - IntronicSNV - 15/15 4
11-2814960-C-G c.1794+15693C>G - IntronicSNV - 15/15 5
11-2816336-G-A c.1794+17069G>A - IntronicSNV - 15/15 1
11-2816336-G-C c.1794+17069G>C - IntronicSNV - 15/15 1
11-2816701-C-G c.1794+17434C>G - IntronicSNV - 15/15 1
11-2817795-C-T c.1794+18528C>T - IntronicSNV - 15/15 1
11-2819168-C-T c.1794+19901C>T - IntronicSNV - 15/15 1
11-2819172-G-A c.1794+19905G>A - IntronicSNV - 15/15 1
11-2819193-C-T c.1794+19926C>T - IntronicSNV - 15/15 1
11-2819194-G-A c.1794+19927G>A - IntronicSNV - 15/15 1
11-2819208-C-T c.1794+19941C>T - IntronicSNV - 15/15 1
11-2819227-G-C c.1794+19960G>C - IntronicSNV - 15/15 1
11-2819259-T-C c.1794+19992T>C - IntronicSNV - 15/15 1
11-2819259-T-G c.1794+19992T>G - IntronicSNV - 15/15 1
11-2819282-T-A c.1794+20015T>A - IntronicSNV - 15/15 1
11-2819282-T-G c.1794+20015T>G - IntronicSNV - 15/15 1
11-2819295-G-T c.1794+20028G>T - IntronicSNV - 15/15 1
11-2821065-T-C c.1794+21798T>C - IntronicSNV - 15/15 10
11-2821427-C-T c.1794+22160C>T - IntronicSNV - 15/15 2
11-2821615-A-C c.1794+22348A>C - IntronicSNV - 15/15 32
11-2821968-T-C c.1794+22701T>C - IntronicSNV - 15/15 1
11-2824573-C-G c.1794+25306C>G - IntronicSNV - 15/15 3
11-2824573-C-T c.1794+25306C>T - IntronicSNV - 15/15 3
11-2824800-G-T c.1794+25533G>T - IntronicSNV - 15/15 19
11-2825279-C-T c.1794+26012C>T - IntronicSNV - 15/15 1
11-2825871-C-T c.1794+26604C>T - IntronicSNV - 15/15 1
11-2826603-A-G c.1794+27336A>G - IntronicSNV - 15/15 4
11-2826617-A-G c.1794+27350A>G - IntronicSNV - 15/15 1
11-2830565-C-G c.1794+31298C>G - IntronicSNV - 15/15 1
11-2830565-C-T c.1794+31298C>T - IntronicSNV - 15/15 1
11-2831541-T-C c.1794+32274T>C - IntronicSNV - 15/15 7
11-2832905-C-T c.1794+33638C>T - IntronicSNV - 15/15 1
11-2833427-C-A c.1794+34160C>A - IntronicSNV - 15/15 1
11-2835780-A-G c.1795-33217A>G - IntronicSNV - 15/15 1
11-2836085-A-G c.1795-32912A>G - IntronicSNV - 15/15 1
11-2836213-G-A c.1795-32784G>A - IntronicSNV - 15/15 1
11-2836213-G-C c.1795-32784G>C - IntronicSNV - 15/15 1
11-2838413-T-C c.1795-30584T>C - IntronicSNV - 15/15 10
11-2839751-C-T c.1795-29246C>T - IntronicSNV - 15/15 233
11-2840424-C-A c.1795-28573C>A - IntronicSNV - 15/15 2
11-2840424-C-T c.1795-28573C>T - IntronicSNV - 15/15 2
11-2844216-G-A c.1795-24781G>A - IntronicSNV - 15/15 15
11-2844216-G-C c.1795-24781G>C - IntronicSNV - 15/15 15
11-2844441-T-C c.1795-24556T>C - IntronicSNV - 15/15 1
11-2845082-T-C c.1795-23915T>C - IntronicSNV - 15/15 2
11-2845700-C-G c.1795-23297C>G - IntronicSNV - 15/15 1
11-2845700-C-T c.1795-23297C>T - IntronicSNV - 15/15 1
11-2846410-A-ACTGGGG c.1795-22579_1795-22574dup - IntronicInsertion - 15/15 1
11-2846427-G-A c.1795-22570G>A - IntronicSNV - 15/15 1
11-2847069-T-G c.1795-21928T>G - IntronicSNV - 15/15 65
11-2849530-A-C c.1795-19467A>C - IntronicSNV - 15/15 52
11-2850828-G-A c.1795-18169G>A - IntronicSNV - 15/15 2
11-2852529-T-C c.1795-16468T>C - IntronicSNV - 15/15 4
11-2852568-A-T c.1795-16429A>T - IntronicSNV - 15/15 1
11-2854043-G-A c.1795-14954G>A - IntronicSNV - 15/15 1
11-2856658-C-G c.1795-12339C>G - IntronicSNV - 15/15 2
11-2856658-C-T c.1795-12339C>T - IntronicSNV - 15/15 2
11-2857194-A-C c.1795-11803A>C - IntronicSNV - 15/15 137
11-2857194-A-T c.1795-11803A>T - IntronicSNV - 15/15 137
11-2857233-G-A c.1795-11764G>A - IntronicSNV - 15/15 7
11-2857297-G-A c.1795-11700G>A - IntronicSNV - 15/15 4
11-2857897-G-A c.1795-11100G>A - IntronicSNV - 15/15 2
11-2857897-G-T c.1795-11100G>T - IntronicSNV - 15/15 2
11-2858295-C-T c.1795-10702C>T - IntronicSNV - 15/15 14
11-2858440-G-A c.1795-10557G>A - IntronicSNV - 15/15 17
11-2858440-G-T c.1795-10557G>T - IntronicSNV - 15/15 17
11-2858546-C-T c.1795-10451C>T - IntronicSNV - 15/15 88
11-2858636-C-T c.1795-10361C>T - IntronicSNV - 15/15 5
11-2858800-G-A c.1795-10197G>A - IntronicSNV - 15/15 4
11-2858800-G-C c.1795-10197G>C - IntronicSNV - 15/15 4
11-2858800-G-T c.1795-10197G>T - IntronicSNV - 15/15 4
11-2861149-A-G c.1795-7848A>G - IntronicSNV - 15/15 1
11-2861578-G-C c.1795-7419G>C - IntronicSNV - 15/15 2
11-2861578-G-T c.1795-7419G>T - IntronicSNV - 15/15 2
11-2868998-T-A c.1796T>A p.V599E Missense 16/16 - 1
11-2869001-C-T c.1799C>T p.T600M Missense 16/16 - 7
11-2869003-C-T c.1801C>T p.Q601* Nonsense 16/16 - 1
11-2869006-C-A c.1804C>A p.L602M Missense 16/16 - 1
11-2869006-CT-GC c.1804_1805delinsGC p.L602A Missense 16/16 - 1
11-2869007-T-C c.1805T>C p.L602P Missense 16/16 - 1
11-2869015-AG-GA c.1813_1814delinsGA p.R605E Missense 16/16 - 1
11-2869018-CTG-TTT c.1816_1818delinsTTT p.L606F Missense 16/16 - 1
11-2869028-T-A c.1826T>A p.I609N Missense 16/16 - 1
11-2869033-G-A c.1831G>A p.D611N Missense 16/16 - 5
11-2869033-GA-AC c.1831_1832delinsAC p.D611T Missense 16/16 - 1
11-2869033-G-T c.1831G>T p.D611Y Missense 16/16 - 5
11-2869039-C-T c.1837C>T p.L613F Missense 16/16 - 1
11-2869041-TCAC-T c.1842_1844del p.H614del InFrameDeletion 16/16 - 1
11-2869057-T-A c.1855T>A p.L619M Missense 16/16 - 6
11-2869060-CA-GC c.1858_1859delinsGC p.H620A Missense 16/16 - 1
11-2869062-C-T c.1860C>T p.H620= Synonymous 16/16 - 2
11-2869063-G-A c.1861G>A p.G621S Missense 16/16 - 3
11-2869072-ACCCCCGGCAGCGGCGGCC-A c.1876_1893del p.G626_P631del InFrameDeletion 16/16 - 1
11-2869078-G-A c.1876G>A p.G626S Missense 16/16 - 5
11-2869079-G-A c.1877G>A p.G626D Missense 16/16 - 1
11-2869079-G-C c.1877G>C p.G626A Missense 16/16 - 1
11-2869079-G-T c.1877G>T p.G626V Missense 16/16 - 1
11-2869084-G-A c.1882G>A p.G628S Missense 16/16 - 1
11-2869084-G-C c.1882G>C p.G628R Missense 16/16 - 1
11-2869084-G-T c.1882G>T p.G628C Missense 16/16 - 3
11-2869085-G-A c.1883G>A p.G628D Missense 16/16 - 1
11-2869085-G-C c.1883G>C p.G628A Missense 16/16 - 1
11-2869085-G-T c.1883G>T p.G628V Missense 16/16 - 1
11-2869087-G-A c.1885G>A p.G629S Missense 16/16 - 2
11-2869088-GCCC-G c.1891_1893del p.P631del InFrameDeletion 16/16 - 1
11-2869093-CC-TT c.1891_1892delinsTT p.P631F Missense 16/16 - 1
11-2869088-G-GC c.1893dup p.R632Qfs*20 Frameshift 16/16 - 3
11-2869098-A-C c.1896A>C p.R632S Missense 16/16 - 1
11-2869115-T-C c.1913T>C p.I638T Missense 16/16 - 1
11-2869126-TG-GC c.1924_1925delinsGC p.C642A Missense 16/16 - 1
11-2869129-G-A c.1927G>A p.G643S Missense 16/16 - 26
11-2869130-G-C c.1928G>C p.G643A Missense 16/16 - 1
11-2869137-C-A c.1935C>A p.G645= Synonymous 16/16 - 1
11-2869137-C-G c.1935C>G p.G645= Synonymous 16/16 - 1
11-2869137-C-T c.1935C>T p.G645= Synonymous 16/16 - 1
11-2869144-G-A c.1942G>A p.V648I Missense 16/16 - 7
11-2869147-G-A c.1945G>A p.D649N Missense 16/16 - 1
11-2869186-TA-GC c.1984_1985delinsGC p.Y662A Missense 16/16 - 1
11-2869188-C-A c.1986C>A p.Y662* Nonsense 16/16 - 3
11-2869188-C-G c.1986C>G p.Y662* Nonsense 16/16 - 3
11-2869188-C-T c.1986C>T p.Y662= Synonymous 16/16 - 2
11-2869197-G-C c.1995G>C p.L665= Synonymous 16/16 - 1
11-2869211-G-A c.2009G>A p.R670K Missense 16/16 - 3
11-2869220-A-G c.2018A>G p.D673G Missense 16/16 - 1
11-2869222-G-A c.2020G>A p.E674K Missense 16/16 - 1