Mutation summary in protein domains

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Loss of Function mutations compare to missense mutations

The copy number variations for various cancers

The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

COSMIC somatic mutation [Top]

c.3639delA; p.E1214fs*4; 3:52576593-52576593

c.715-1G>A; p.?; 3:52648443-52648443

c.3947T>G; p.F1316C; 3:52563422-52563422

c.3692-1G>T; p.?; 3:52564234-52564234

c.715-1G>A; p.?; 3:52648443-52648443

c.530_534delCTTCT; p.P179fs*11; 3:52658310-52658314

c.4693T>A; p.L1565M; 3:52548119-52548119

c.1918A>T; p.K640*; 3:52615357-52615357

c.3639delA; p.E1214fs*4; 3:52576593-52576593

c.3100A>T; p.K1034*; 3:52587376-52587376

c.459G>A; p.Q153Q; 3:52662202-52662202

c.3100A>T; p.K1034*; 3:52587376-52587376

c.845_846delTG; p.M282fs*4; 3:52644757-52644758

c.3111C>T; p.V1037V; 3:52587365-52587365

c.755T>G; p.I252R; 3:52648402-52648402

c.1112C>G; p.S371*; 3:52634791-52634791

c.3830T>A; p.F1277Y; 3:52564095-52564095

c.3605C>A; p.T1202K; 3:52576627-52576627

c.1861A>T; p.K621*; 3:52615414-52615414

c.4120A>T; p.K1374*; 3:52561935-52561935

c.1868A>G; p.K623R; 3:52615407-52615407

c.3784A>G; p.N1262D; 3:52564141-52564141

c.2153A>G; p.Y718C; 3:52609727-52609727

c.810delC; p.F270fs*13; 3:52648347-52648347

c.3054_3056delTAA; p.F1018_K1019>L; 3:52587420-52587422

c.2111_2114delTGGA; p.M704fs*9; 3:52609766-52609769

c.(1915_1917)delC; p.(L639)fs*?; 3:52615360-52615360

c.824C>T; p.S275L; 3:52644779-52644779

c.1102G>T; p.E368*; 3:52634801-52634801

c.2211A>G; p.T737T; 3:52609669-52609669

c.2211A>G; p.T737T; 3:52609669-52609669

c.2211A>G; p.T737T; 3:52609669-52609669

c.1102G>T; p.E368*; 3:52634801-52634801

c.4032_4032delG; p.Q1344fs*40; 3:52563337-52563337

c.3751_3753delGAA; p.E1251delE; 3:52564172-52564174

c.3691G>A; p.G1231R; 3:52576541-52576541

c.3691G>A; p.G1231R; 3:52576541-52576541

c.651T>G; p.Y217*; 3:52651805-52651805

c.3271C>G; p.P1091A; 3:52586541-52586541

c.3028C>T; p.R1010*; 3:52587448-52587448

c.3491T>G; p.V1164G; 3:52579096-52579096

c.138+2delT; p.?; 3:52679572-52679572

c.3028C>T; p.R1010*; 3:52587448-52587448

c.726C>G; p.Y242*; 3:52648431-52648431

c.125delC; p.P42fs*3; 3:52679587-52679587

c.3028C>T; p.R1010*; 3:52587448-52587448

c.2656C>G; p.L886V; 3:52603644-52603644

c.2622_2624delAAT; p.K874_I875>N; 3:52603676-52603678

c.3028C>T; p.R1010*; 3:52587448-52587448

c.1369G>T; p.E457*; 3:52628968-52628968

c.646C>T; p.Q216*; 3:52651810-52651810

c.2335C>T; p.Q779*; 3:52609545-52609545

c.2335C>T; p.Q779*; 3:52609545-52609545

c.2105A>C; p.K702T; 3:52609775-52609775

c.1369G>T; p.E457*; 3:52628968-52628968

c.2296_2318del23; p.D766fs*22; 3:52609562-52609584

c.1369G>T; p.E457*; 3:52628968-52628968

c.3149delA; p.N1050fs*109; 3:52586663-52586663

c.2335C>T; p.Q779*; 3:52609545-52609545

c.2335C>T; p.Q779*; 3:52609545-52609545

c.364A>T; p.N122Y; 3:52668518-52668518

c.4289-1G>T; p.?; 3:52550818-52550818

c.3901C>T; p.P1301S; 3:52563468-52563468

c.2335C>T; p.Q779*; 3:52609545-52609545

c.3387+1G>A; p.?; 3:52586424-52586424

c.974_975insA; p.N325fs*4; 3:52643268-52643269

c.676G>C; p.E226Q; 3:52651780-52651780

c.4404T>A; p.Y1468*; 3:52550593-52550593

c.2966-1G>C; p.?; 3:52587511-52587511

c.4638G>A; p.L1546L; 3:52548174-52548174

c.3956T>A; p.L1319*; 3:52563413-52563413

c.2224_2235del12; p.E742_I745del; 3:52609645-52609656

c.3505_3505delC; p.H1169fs*49; 3:52579082-52579082

c.3394G>A; p.E1132K; 3:52579193-52579193

c.1855A>T; p.K619*; 3:52615420-52615420

c.1060G>T; p.E354*; 3:52641981-52641981

c.2587_2597del11; p.E863fs*8; 3:52603703-52603713

c.2126_2127insA; p.R710fs*13; 3:52609753-52609754

c.2126_2127insA; p.R710fs*13; 3:52609753-52609754

c.1060G>T; p.E354*; 3:52641981-52641981

c.1479C>T; p.I493I; 3:52627335-52627335

c.2684_2685insT; p.H897fs*4; 3:52603615-52603616

c.4387C>T; p.Q1463*; 3:52550610-52550610

c.1803T>G; p.N601K; 3:52617277-52617277

c.4387C>T; p.Q1463*; 3:52550610-52550610

c.2941G>T; p.E981*; 3:52589094-52589094

c.3083T>A; p.V1028D; 3:52587393-52587393

c.2770G>T; p.E924*; 3:52603530-52603530

c.3398delA; p.D1133fs*26; 3:52579189-52579189

c.4387C>T; p.Q1463*; 3:52550610-52550610

c.3808A>C; p.K1270Q; 3:52564117-52564117

c.4275delA; p.A1426fs*6; 3:52561780-52561780

c.3838T>C; p.S1280P; 3:52564087-52564087

c.842_854del13; p.Y281fs*15; 3:52644749-52644761

c.3454delC; p.H1152fs*7; 3:52579133-52579133

c.4570C>T; p.L1524L; 3:52550427-52550427

c.712C>T; p.Q238*; 3:52651744-52651744

c.2999G>A; p.R1000Q; 3:52587477-52587477

c.3523delC; p.R1175fs*43; 3:52579064-52579064

c.608_609insC; p.I204fs*2; 3:52658235-52658236

c.3883delA; p.I1295fs*18; 3:52563486-52563486

c.2299G>C; p.E767Q; 3:52609581-52609581

c.2837_2837delC; p.T946fs*68; 3:52589198-52589198

c.2068delA; p.R690fs*9; 3:52609812-52609812

c.3222delA; p.K1074fs*85; 3:52586590-52586590

c.1814C>T; p.S605F; 3:52617266-52617266

c.3419delA; p.N1140fs*19; 3:52579168-52579168

c.2228C>T; p.S743F; 3:52609652-52609652

c.2376_2391del16; p.H792fs*8; 3:52609489-52609504

c.2354T>C; p.L785P; 3:52609526-52609526

c.423_424insG; p.D142fs*9; 3:52662237-52662238

c.4520T>A; p.I1507N; 3:52550477-52550477

c.4472delC; p.P1491fs*14; 3:52550525-52550525

c.2884G>T; p.D962Y; 3:52589151-52589151

c.4520T>A; p.I1507N; 3:52550477-52550477

c.1088-8_1089delCTTTCCAGCT; p.?; 3:52634814-52634823

c.4576+5_4576+6insGAG; p.?; 3:52550415-52550416

c.377_384+1delATTATAAGG; p.?; 3:52668497-52668505

c.2507_2528del22; p.R836fs*12; 3:52609352-52609373

c.3132delT; p.F1044fs*115; 3:52586680-52586680

c.765C>T; p.L255L; 3:52648392-52648392

c.3132delT; p.F1044fs*115; 3:52586680-52586680

c.1367T>C; p.F456S; 3:52628970-52628970

c.2068A>T; p.R690*; 3:52609812-52609812

c.3875+1G>A; p.?; 3:52564049-52564049

c.3553C>T; p.R1185*; 3:52576679-52576679

c.619delC; p.L207fs*17; 3:52658225-52658225

c.3553C>T; p.R1185*; 3:52576679-52576679

c.3553C>T; p.R1185*; 3:52576679-52576679

c.439delA; p.T147fs*27; 3:52662222-52662222

c.3553C>T; p.R1185*; 3:52576679-52576679

c.3553C>T; p.R1185*; 3:52576679-52576679

c.1942delT; p.S648fs*8; 3:52609938-52609938

c.1758G>A; p.M586I; 3:52617322-52617322

c.3553C>T; p.R1185*; 3:52576679-52576679

c.3553C>T; p.R1185*; 3:52576679-52576679

c.3553C>T; p.R1185*; 3:52576679-52576679

c.508C>T; p.Q170*; 3:52662153-52662153

c.508C>T; p.Q170*; 3:52662153-52662153

c.478G>T; p.E160*; 3:52662183-52662183

c.3235C>T; p.P1079S; 3:52586577-52586577

c.1453A>T; p.K485*; 3:52627361-52627361

c.2885A>T; p.D962V; 3:52589150-52589150

c.59A>G; p.D20G; 3:52679653-52679653

c.2973delA; p.K991fs*23; 3:52587503-52587503

c.2973delA; p.K991fs*23; 3:52587503-52587503

c.958C>T; p.L320F; 3:52643285-52643285

c.3263G>A; p.R1088Q; 3:52586549-52586549

c.1757T>A; p.M586K; 3:52617323-52617323

c.3249_3253delCAGGT; p.R1084fs*21; 3:52586559-52586563

c.3859G>A; p.E1287K; 3:52564066-52564066

c.3255_3255delT; p.F1085fs*74; 3:52586557-52586557

c.237-1G>A; p.?; 3:52668646-52668646

c.3859G>A; p.E1287K; 3:52564066-52564066

c.3155G>A; p.R1052Q; 3:52586657-52586657

c.2578G>A; p.E860K; 3:52603722-52603722

c.3710C>G; p.S1237*; 3:52564215-52564215

c.4123G>T; p.E1375*; 3:52561932-52561932

c.1168_1169insT; p.Y390fs*2; 3:52634734-52634735

c.439A>C; p.T147P; 3:52662222-52662222

c.4015_4015delC; p.P1339fs*45; 3:52563354-52563354

c.3869A>T; p.Y1290F; 3:52564056-52564056

c.1168_1169insT; p.Y390fs*2; 3:52634734-52634735

c.1168_1169insT; p.Y390fs*2; 3:52634734-52634735

c.1168_1169insT; p.Y390fs*2; 3:52634734-52634735

c.1168_1169insT; p.Y390fs*2; 3:52634734-52634735

c.1168_1169insT; p.Y390fs*2; 3:52634734-52634735

c.1168_1169insT; p.Y390fs*2; 3:52634734-52634735

c.2140A>T; p.M714L; 3:52609740-52609740

c.1007_1011CAGTA>T; p.A336fs*25; 3:52642030-52642034

c.1381C>T; p.R461C; 3:52628956-52628956

c.3759_3760insA; p.I1254fs*5; 3:52564165-52564166

c.412delT; p.C138fs*36; 3:52662249-52662249

c.3675_3675delC; p.M1226fs*1; 3:52576557-52576557

c.1381C>T; p.R461C; 3:52628956-52628956

c.3837C>G; p.L1279L; 3:52564088-52564088

c.2497C>T; p.R833C; 3:52609383-52609383

c.3049G>T; p.V1017F; 3:52587427-52587427

c.3335_3335delA; p.N1112fs*47; 3:52586477-52586477

c.237-3C>A; p.?; 3:52668648-52668648

c.2627G>T; p.R876L; 3:52603673-52603673

c.384G>A; p.K128K; 3:52668498-52668498

c.2149A>T; p.K717*; 3:52609731-52609731

c.4211delA; p.Y1404fs*28; 3:52561844-52561844

c.1442delA; p.Q481fs*19; 3:52628895-52628895

c.1034delT; p.T346fs*16; 3:52642007-52642007

c.3640_3641delGA; p.E1214fs*5; 3:52576591-52576592

c.344A>T; p.D115V; 3:52668538-52668538

c.1441C>T; p.Q481*; 3:52628896-52628896

c.4289-1G>C; p.?; 3:52550818-52550818

c.3601G>T; p.E1201*; 3:52576631-52576631

c.2242delG; p.D748fs*27; 3:52609638-52609638

c.97A>G; p.R33G; 3:52679615-52679615

c.610A>C; p.I204L; 3:52658234-52658234

c.2156A>G; p.Q719R; 3:52609724-52609724

c.2517_2519delATT; p.L839delL; 3:52609361-52609363

c.3236C>A; p.P1079H; 3:52586576-52586576

c.2569A>G; p.T857A; 3:52603731-52603731

c.2613T>G; p.F871L; 3:52603687-52603687

c.442A>T; p.R148*; 3:52662219-52662219

c.625delC; p.Q209fs*15; 3:52658219-52658219

c.3123+1G>A; p.?; 3:52587352-52587352

c.3123+1G>A; p.?; 3:52587352-52587352

c.1998T>G; p.Y666*; 3:52609882-52609882

c.3123+1G>A; p.?; 3:52587352-52587352

c.527G>C; p.G176A; 3:52662134-52662134

c.755T>C; p.I252T; 3:52648402-52648402

c.755T>C; p.I252T; 3:52648402-52648402

c.403A>G; p.K135E; 3:52662258-52662258

c.2965+1G>C; p.?; 3:52589069-52589069

c.1443+1G>T; p.?; 3:52628893-52628893

c.1432C>T; p.Q478*; 3:52628905-52628905

c.1443+1G>T; p.?; 3:52628893-52628893

c.1840C>G; p.L614V; 3:52615435-52615435

c.3008_3009insA; p.T1004fs*16; 3:52587467-52587468

c.4354C>T; p.Q1452*; 3:52550752-52550752

c.1727G>C; p.R576P; 3:52617353-52617353

c.2642_2643insTA; p.K881fs*35; 3:52603657-52603658

c.842A>T; p.Y281F; 3:52644761-52644761

c.4370_4371insTT; p.L1457fs*33; 3:52550626-52550627

c.1573delA; p.I525fs*44; 3:52617507-52617507

c.892C>T; p.R298*; 3:52644711-52644711

c.892C>T; p.R298*; 3:52644711-52644711

c.892C>T; p.R298*; 3:52644711-52644711

c.1690G>T; p.E564*; 3:52617390-52617390

c.3151T>G; p.F1051V; 3:52586661-52586661

c.1854C>T; p.L618L; 3:52615421-52615421

c.207T>A; p.C69*; 3:52678529-52678529

c.2090delA; p.Y697fs*2; 3:52609790-52609790

c.3040delG; p.E1014fs*19; 3:52587436-52587436

c.3107_3108delTG; p.V1036fs*9; 3:52587368-52587369

c.1922_1922delT; p.L641fs*15; 3:52615353-52615353

c.824C>A; p.S275*; 3:52644779-52644779

c.994delC; p.R332fs*30; 3:52643249-52643249

c.3347C>G; p.S1116*; 3:52586465-52586465

c.599C>A; p.S200*; 3:52658245-52658245

c.787_789delAAT; p.N263delN; 3:52648368-52648370

c.3861A>C; p.E1287D; 3:52564064-52564064

c.2216A>G; p.N739S; 3:52609664-52609664

c.3347C>G; p.S1116*; 3:52586465-52586465

c.2363C>A; p.S788*; 3:52609517-52609517

c.1505C>G; p.S502*; 3:52627309-52627309

c.1587_1587delT; p.V530fs*39; 3:52617493-52617493

c.1816C>T; p.Q606*; 3:52617264-52617264

c.640A>T; p.K214*; 3:52658204-52658204

c.1542-1G>A; p.?; 3:52617539-52617539

c.3977_3978insT; p.E1327fs*1; 3:52563391-52563392

c.172C>T; p.R58*; 3:52678564-52678564

c.1666C>T; p.P556S; 3:52617414-52617414

c.172C>T; p.R58*; 3:52678564-52678564

c.172C>T; p.R58*; 3:52678564-52678564

c.3848T>A; p.V1283E; 3:52564077-52564077

c.172C>T; p.R58*; 3:52678564-52678564

c.2716A>T; p.R906*; 3:52603584-52603584

c.172C>T; p.R58*; 3:52678564-52678564

c.172C>T; p.R58*; 3:52678564-52678564

c.1637_1638delTT; p.F546fs*3; 3:52617442-52617443

c.646-5T>G; p.?; 3:52651815-52651815

c.3388G>T; p.E1130*; 3:52579199-52579199

c.1182G>C; p.R394S; 3:52634721-52634721

c.646-5T>G; p.?; 3:52651815-52651815

c.3335A>G; p.N1112S; 3:52586477-52586477

c.2155C>T; p.Q719*; 3:52609725-52609725

c.4177_4181delATGAG; p.M1393fs*4; 3:52561874-52561878

c.3875+1G>T; p.?; 3:52564049-52564049

c.1760T>C; p.I587T; 3:52617320-52617320

c.2779+1G>A; p.?; 3:52603520-52603520

c.3030_3030delA; p.K1011fs*3; 3:52587446-52587446

c.469G>A; p.A157T; 3:52662192-52662192

c.2756_2761delTAAAAC; p.L919_K920del; 3:52603539-52603544

c.1744G>A; p.G582S; 3:52617336-52617336

c.39C>T; p.S13S; 3:52679673-52679673

c.3292G>T; p.A1098S; 3:52586520-52586520

c.1953_1954AT>G; p.S652fs*4; 3:52609926-52609927

c.446delA; p.N149fs*25; 3:52662215-52662215

c.4045delC; p.L1349fs*35; 3:52563324-52563324

c.1747G>T; p.E583*; 3:52617333-52617333

c.4045delC; p.L1349fs*35; 3:52563324-52563324

c.3703delG; p.V1235fs*34; 3:52564222-52564222

c.3703delG; p.V1235fs*34; 3:52564222-52564222

c.2126T>C; p.I709T; 3:52609754-52609754

c.360delT; p.F120fs*54; 3:52668522-52668522

c.813+1G>A; p.?; 3:52648343-52648343

c.3920delA; p.K1307fs*6; 3:52563449-52563449

c.2226G>A; p.E742E; 3:52609654-52609654

c.1998T>A; p.Y666*; 3:52609882-52609882

c.3920delA; p.K1307fs*6; 3:52563449-52563449

c.3920delA; p.K1307fs*6; 3:52563449-52563449

c.2955G>A; p.E985E; 3:52589080-52589080

c.102_103delAA; p.R35fs*17; 3:52679609-52679610

c.682A>G; p.I228V; 3:52651774-52651774

c.3534-1G>T; p.?; 3:52576699-52576699

c.1302A>G; p.R434R; 3:52629035-52629035

c.1999_2000insTA; p.E667fs*4; 3:52609880-52609881

c.3245delC; p.S1082fs*1; 3:52586567-52586567

c.3745delA; p.I1249fs*20; 3:52564180-52564180

c.1279delC; p.I428fs*10; 3:52634624-52634624

c.3470G>A; p.W1157*; 3:52579117-52579117

c.1819-1G>A; p.?; 3:52615457-52615457

c.1739A>G; p.Y580C; 3:52617341-52617341

c.196A>G; p.R66G; 3:52678540-52678540

c.2411T>A; p.L804*; 3:52609469-52609469

c.224C>T; p.A75V; 3:52678512-52678512

c.898A>G; p.R300G; 3:52644705-52644705

c.529-2A>T; p.?; 3:52658317-52658317

c.1264C>T; p.Q422*; 3:52634639-52634639

c.2977_2980delTTGT; p.L993fs*20; 3:52587496-52587499

c.2822C>G; p.S941*; 3:52589213-52589213

c.814-1G>A; p.?; 3:52644790-52644790

c.996-4G>A; p.?; 3:52642049-52642049

c.3881_3882insC; p.I1295fs*21; 3:52563487-52563488

c.2822C>G; p.S941*; 3:52589213-52589213

c.2125_2125delA; p.I709fs*5; 3:52609755-52609755

c.996-4G>A; p.?; 3:52642049-52642049

c.1914delA; p.K638fs*4; 3:52615361-52615361

c.2822C>G; p.S941*; 3:52589213-52589213

c.2632G>T; p.E878*; 3:52603668-52603668

c.3480delT; p.G1161fs*57; 3:52579107-52579107

c.348C>T; p.F116F; 3:52668534-52668534

c.1170T>G; p.Y390*; 3:52634733-52634733

c.3639_3640insA; p.E1214fs*6; 3:52576592-52576593

c.3199delA; p.T1067fs*92; 3:52586613-52586613

c.3199delA; p.T1067fs*92; 3:52586613-52586613

c.3699T>G; p.C1233W; 3:52564226-52564226

c.2106G>A; p.K702K; 3:52609774-52609774

c.4196C>A; p.A1399D; 3:52561859-52561859

c.1162C>T; p.Q388*; 3:52634741-52634741

c.3534-2A>T; p.?; 3:52576700-52576700

c.4529_4536delTCAGTGCG; p.L1510fs*6; 3:52550461-52550468

c.1162C>T; p.Q388*; 3:52634741-52634741

c.3559G>A; p.G1187R; 3:52576673-52576673

c.9C>A; p.S3S; 3:52679703-52679703

c.3123+2delT; p.?; 3:52587351-52587351

c.3968_3977del10; p.D1323fs*58; 3:52563392-52563401

c.2254C>G; p.L752V; 3:52609626-52609626

c.613A>T; p.S205C; 3:52658231-52658231

c.3095_3096TA>AAA; p.L1032fs*14; 3:52587380-52587381

c.1642delG; p.V548fs*21; 3:52617438-52617438

c.682delA; p.I228fs*1; 3:52651774-52651774

c.3388-2A>C; p.?; 3:52579201-52579201

c.235A>T; p.R79*; 3:52678501-52678501

c.2344A>C; p.I782L; 3:52609536-52609536

c.2799delT; p.S934fs*80; 3:52589236-52589236

c.2773A>C; p.K925Q; 3:52603527-52603527

c.1843G>T; p.E615*; 3:52615432-52615432

c.4431_4437delTGTCATA; p.V1478fs*9; 3:52550560-52550566

c.1583A>G; p.N528S; 3:52617497-52617497

c.2540T>C; p.V847A; 3:52609340-52609340

c.3805A>T; p.K1269*; 3:52564120-52564120

c.2789delA; p.K930fs*84; 3:52589246-52589246

c.1994T>C; p.V665A; 3:52609886-52609886

c.182A>C; p.K61T; 3:52678554-52678554

c.1547delA; p.K516fs*3; 3:52617533-52617533

c.3638_3639insA; p.E1214fs*6; 3:52576593-52576594

c.2646_2647delTG; p.N882fs*18; 3:52603653-52603654

c.324delT; p.D108fs*5; 3:52668558-52668558

c.1983delA; p.K661fs*2; 3:52609897-52609897

c.519G>A; p.V173V; 3:52662142-52662142

c.552G>C; p.E184D; 3:52658292-52658292

c.4284T>G; p.Y1428*; 3:52561771-52561771

c.528+1G>C; p.?; 3:52662132-52662132

c.2998C>G; p.R1000G; 3:52587478-52587478

c.835delA; p.I279fs*4; 3:52644768-52644768

c.773A>T; p.N258I; 3:52648384-52648384

c.835delA; p.I279fs*4; 3:52644768-52644768

c.4379delC; p.P1460fs*29; 3:52550618-52550618

c.4066A>G; p.M1356V; 3:52563303-52563303

c.835delA; p.I279fs*4; 3:52644768-52644768

c.835delA; p.I279fs*4; 3:52644768-52644768

c.835delA; p.I279fs*4; 3:52644768-52644768

c.835delA; p.I279fs*4; 3:52644768-52644768

c.2929_2930delAT; p.I977fs*4; 3:52589105-52589106

c.4510_4512delCTG; p.L1504delL; 3:52550485-52550487

c.1444-1_1454delGGCAAAGAAGAA; p.?; 3:52627360-52627371

c.2335C>G; p.Q779E; 3:52609545-52609545

c.546G>C; p.L182F; 3:52658298-52658298

c.829A>T; p.K277*; 3:52644774-52644774

c.190C>T; p.Q64*; 3:52678546-52678546

c.210delG; p.E70fs*25; 3:52678526-52678526

c.3698_3704delGTGCTGT; p.A1234fs*33; 3:52564221-52564227

c.3188A>G; p.Y1063C; 3:52586624-52586624

c.3952G>A; p.E1318K; 3:52563417-52563417

c.3258C>T; p.V1086V; 3:52586554-52586554

c.774_775insA; p.A259fs*5; 3:52648382-52648383

c.2088C>G; p.Y696*; 3:52609792-52609792

c.1376C>G; p.A459G; 3:52628961-52628961

c.4310C>T; p.A1437V; 3:52550796-52550796

c.1167_1168insT; p.Y390fs*2; 3:52634735-52634736

c.255T>G; p.Y85*; 3:52668627-52668627

c.3188_3189delAT; p.Y1063fs*8; 3:52586623-52586624

c.1009delG; p.V337fs*25; 3:52642032-52642032

c.753_756delTATA; p.D251fs*31; 3:52648401-52648404

c.275_280TTGACT>TGA; p.I92_L94>MM; 3:52668602-52668607

c.2618_2625delTTAAAATT; p.I873fs*2; 3:52603675-52603682

c.3409G>T; p.E1137*; 3:52579178-52579178

c.899+1G>A; p.?; 3:52644703-52644703

c.529-16_532del20; p.?; 3:52658312-52658331

c.1300C>T; p.R434*; 3:52634603-52634603

c.2461A>G; p.T821A; 3:52609419-52609419

c.2784T>C; p.A928A; 3:52589251-52589251

c.995G>C; p.R332P; 3:52643248-52643248

c.1906T>C; p.S636P; 3:52615369-52615369

c.3415_3421delTCCAATG; p.S1139fs*18; 3:52579166-52579172

c.1248_1248delA; p.K416fs*22; 3:52634655-52634655

c.1242G>T; p.K414N; 3:52634661-52634661

c.114_120delTTCCAAT; p.S39fs*4; 3:52679592-52679598

c.3033delA; p.K1011fs*3; 3:52587443-52587443

c.3033delA; p.K1011fs*3; 3:52587443-52587443

c.2047delA; p.I683fs*3; 3:52609833-52609833

c.2047delA; p.I683fs*3; 3:52609833-52609833

c.3052_3054delTTT; p.F1018del; 3:52587422-52587424

c.3217delA; p.I1073fs*86; 3:52586595-52586595

c.3217delA; p.I1073fs*86; 3:52586595-52586595

c.2200A>G; p.N734D; 3:52609680-52609680

c.2627G>A; p.R876H; 3:52603673-52603673

c.3186G>A; p.R1062R; 3:52586626-52586626

c.2627G>A; p.R876H; 3:52603673-52603673

c.1279C>T; p.P427S; 3:52634624-52634624

c.2536G>T; p.E846*; 3:52609344-52609344

c.3839_3844delCTGCTA; p.S1280_K1282>*; 3:52564081-52564086

c.2536G>T; p.E846*; 3:52609344-52609344

c.3143C>T; p.P1048L; 3:52586669-52586669

c.2536G>T; p.E846*; 3:52609344-52609344

c.2536G>T; p.E846*; 3:52609344-52609344

c.2536G>T; p.E846*; 3:52609344-52609344

c.313G>T; p.E105*; 3:52668569-52668569

c.2536G>T; p.E846*; 3:52609344-52609344

c.1568T>G; p.M523R; 3:52617512-52617512

c.2536G>T; p.E846*; 3:52609344-52609344

c.2536G>T; p.E846*; 3:52609344-52609344

c.2040_2042CAG>TC; p.S681fs*5; 3:52609838-52609840

c.4157_4158insAC; p.Y1386fs*1; 3:52561897-52561898

c.2536G>T; p.E846*; 3:52609344-52609344

c.4066_4067ins?; p.M1356fs; 3:52563302-52563303

c.4135C>T; p.R1379W; 3:52561920-52561920

c.3810delA; p.K1270fs*5; 3:52564115-52564115

c.4162C>T; p.L1388L; 3:52561893-52561893

c.1134C>T; p.S378S; 3:52634769-52634769

c.1119_1122delAGAA; p.E374fs*29; 3:52634781-52634784

c.3630_3644del15; p.F1210_V1215>L; 3:52576588-52576602

c.139-2A>G; p.?; 3:52678599-52678599

c.1444-2A>T; p.?; 3:52627372-52627372

c.1411delA; p.K471fs*4; 3:52628926-52628926

c.851delA; p.K284fs*16; 3:52644752-52644752

c.2568-2A>C; p.?; 3:52603734-52603734

c.139-2A>G; p.?; 3:52678599-52678599

c.2568-2A>C; p.?; 3:52603734-52603734

c.4430delC; p.P1477fs*12; 3:52550567-52550567

c.3876-18_3876-2del17; p.?; 3:52563495-52563511

c.1612T>C; p.S538P; 3:52617468-52617468

c.4335A>G; p.P1445P; 3:52550771-52550771

c.4530C>T; p.L1510L; 3:52550467-52550467

c.4530C>T; p.L1510L; 3:52550467-52550467

c.1727G>A; p.R576H; 3:52617353-52617353

c.3120C>G; p.V1040V; 3:52587356-52587356

c.1528G>T; p.A510S; 3:52627286-52627286

c.1577delT; p.L526fs*43; 3:52617503-52617503

c.4128C>A; p.G1376G; 3:52561927-52561927

c.3039_3039delA; p.E1014fs*19; 3:52587437-52587437

c.2392A>T; p.R798*; 3:52609488-52609488

c.3145G>A; p.E1049K; 3:52586667-52586667

c.2126T>A; p.I709N; 3:52609754-52609754

c.4590C>T; p.D1530D; 3:52548222-52548222

c.1281delC; p.I428fs*10; 3:52634622-52634622

c.4222G>T; p.E1408*; 3:52561833-52561833

c.2126T>A; p.I709N; 3:52609754-52609754

c.4376C>T; p.P1459L; 3:52550621-52550621

c.2217T>C; p.N739N; 3:52609663-52609663

c.674delA; p.K225fs*4; 3:52651782-52651782

c.3185G>A; p.R1062Q; 3:52586627-52586627

c.811_813delAAG; p.K271delK; 3:52648344-52648346

c.1243A>T; p.K415*; 3:52634660-52634660

c.4207_4208delGA; p.D1403fs*18; 3:52561847-52561848

c.1302-1G>T; p.?; 3:52629036-52629036

c.3445G>T; p.E1149*; 3:52579142-52579142

c.1804G>T; p.E602*; 3:52617276-52617276

c.1248_1249insA; p.Y417fs*3; 3:52634654-52634655

c.477C>T; p.D159D; 3:52662184-52662184

c.477C>T; p.D159D; 3:52662184-52662184

c.290_290delT; p.I97fs*5; 3:52668592-52668592

c.1994delT; p.V665fs*5; 3:52609886-52609886

c.3783C>A; p.Y1261*; 3:52564142-52564142

c.2192T>A; p.M731K; 3:52609688-52609688

c.329delA; p.N110fs*3; 3:52668553-52668553

c.125C>T; p.P42L; 3:52679587-52679587

c.3926T>C; p.I1309T; 3:52563443-52563443

c.2874C>G; p.Y958*; 3:52589161-52589161

c.184G>T; p.D62Y; 3:52678552-52678552

c.4566_4576del11; p.Q1522fs*59; 3:52550421-52550431

c.4747delT; p.*1583fs?; 3:52548065-52548065

c.3839_3840delCT; p.S1280fs*2; 3:52564085-52564086

c.4110delC; p.S1371fs*13; 3:52561945-52561945

c.2467G>C; p.D823H; 3:52609413-52609413

c.2466delT; p.F822fs*3; 3:52609414-52609414

c.4688G>C; p.R1563P; 3:52548124-52548124

c.4576+2T>A; p.?; 3:52550419-52550419

c.4045_4046insC; p.L1349fs*4; 3:52563323-52563324

c.1364_1371delTGTTTGAA; p.M455fs*6; 3:52628966-52628973

c.3698G>T; p.C1233F; 3:52564227-52564227

c.2887delT; p.Y963fs*51; 3:52589148-52589148

c.3394G>T; p.E1132*; 3:52579193-52579193

c.3279_3280insT; p.V1094fs*13; 3:52586532-52586533

c.3124-1G>A; p.?; 3:52586689-52586689

c.3394G>T; p.E1132*; 3:52579193-52579193

c.3394G>T; p.E1132*; 3:52579193-52579193

c.2934C>G; p.V978V; 3:52589101-52589101

c.4080C>T; p.P1360P; 3:52563289-52563289

c.2036G>T; p.R679L; 3:52609844-52609844

c.3948_3949insT; p.A1317fs*8; 3:52563420-52563421

c.3554G>C; p.R1185P; 3:52576678-52576678

c.3068_3069insA; p.Y1023fs*1; 3:52587407-52587408

c.1082T>A; p.L361*; 3:52641959-52641959

c.2568-1G>A; p.?; 3:52603733-52603733

c.2031_2036delTCGCCG; p.R678_R679delRR; 3:52609844-52609849

c.2609_2610insCA; p.Q870fs*46; 3:52603690-52603691

c.1583delA; p.N528fs*41; 3:52617497-52617497

c.1797delC; p.Y600fs*42; 3:52617283-52617283

c.1850_1851insT; p.L617fs*; 3:52615425-52615426

c.1757T>C; p.M586T; 3:52617323-52617323

c.998_999insA; p.N333fs*2; 3:52642042-52642043

c.3544delG; p.V1182fs*36; 3:52576688-52576688

c.2351_2354delATCT; p.N784fs*6; 3:52609526-52609529

c.3034T>G; p.F1012V; 3:52587442-52587442

c.4355_4356insAA; p.Q1453fs*37; 3:52550750-52550751

c.3898_3900delGAG; p.E1300delE; 3:52563469-52563471

c.4019_4022delCTTC; p.P1340fs*43; 3:52563347-52563350

c.4661_4680del20; p.M1555fs*23; 3:52548132-52548151

c.1069_1070insCA; p.E357fs*6; 3:52641971-52641972

c.3358C>T; p.R1120*; 3:52586454-52586454

c.937C>T; p.P313S; 3:52643306-52643306

c.2203_2212del10; p.A735fs*7; 3:52609668-52609677

c.1824_1825delTA; p.Y608fs*1; 3:52615450-52615451

c.2210_2211insG; p.Y738fs*3; 3:52609669-52609670

c.3597A>T; p.P1199P; 3:52576635-52576635

c.28T>A; p.S10T; 3:52679684-52679684

c.1877G>T; p.G626V; 3:52615398-52615398

c.2327delT; p.L776fs*2; 3:52609553-52609553

c.361A>T; p.N121Y; 3:52668521-52668521

c.4642_4642delA; p.S1548fs*18; 3:52548170-52548170

c.625C>T; p.Q209*; 3:52658219-52658219

c.4352_4352delG; p.G1451fs*38; 3:52550754-52550754

c.2639G>A; p.C880Y; 3:52603661-52603661

c.625C>T; p.Q209*; 3:52658219-52658219

c.1864A>G; p.R622G; 3:52615411-52615411

c.3154C>T; p.R1052*; 3:52586658-52586658

c.1600C>T; p.R534*; 3:52617480-52617480

c.3154C>T; p.R1052*; 3:52586658-52586658

c.1858G>C; p.E620Q; 3:52615417-52615417

c.3154C>T; p.R1052*; 3:52586658-52586658

c.3154C>T; p.R1052*; 3:52586658-52586658

c.3143C>G; p.P1048R; 3:52586669-52586669

c.4408G>T; p.G1470C; 3:52550589-52550589

c.3143C>G; p.P1048R; 3:52586669-52586669

c.1069G>A; p.E357K; 3:52641972-52641972

c.2890G>A; p.V964I; 3:52589145-52589145

c.1863A>T; p.K621N; 3:52615412-52615412

c.1337A>G; p.D446G; 3:52629000-52629000

c.2669C>A; p.A890E; 3:52603631-52603631

c.2719A>T; p.K907*; 3:52603581-52603581

c.3761_3762insT; p.L1255fs*4; 3:52564163-52564164

c.4357C>T; p.Q1453*; 3:52550749-52550749

c.1635A>T; p.L545L; 3:52617445-52617445

c.724T>C; p.Y242H; 3:52648433-52648433

c.766G>C; p.A256P; 3:52648391-52648391

c.2605C>T; p.Q869*; 3:52603695-52603695

c.4232G>TT; p.R1411fs*11; 3:52561823-52561823

c.2761C>T; p.R921*; 3:52603539-52603539

c.4488G>A; p.R1496R; 3:52550509-52550509

c.1782C>T; p.F594F; 3:52617298-52617298

c.286A>T; p.K96*; 3:52668596-52668596

c.2761C>T; p.R921*; 3:52603539-52603539

c.2761C>T; p.R921*; 3:52603539-52603539

c.4488G>A; p.R1496R; 3:52550509-52550509

c.1541+1G>T; p.?; 3:52627272-52627272

c.3309_3310insG; p.A1104fs*3; 3:52586502-52586503

c.2945G>A; p.R982K; 3:52589090-52589090

c.2761C>T; p.R921*; 3:52603539-52603539

c.2761C>T; p.R921*; 3:52603539-52603539

c.3189T>A; p.Y1063*; 3:52586623-52586623

c.2354T>G; p.L785R; 3:52609526-52609526

c.1577T>A; p.L526*; 3:52617503-52617503

c.2354T>G; p.L785R; 3:52609526-52609526

c.773_774insA; p.N258fs*6; 3:52648383-52648384

c.2354T>G; p.L785R; 3:52609526-52609526

c.3046G>T; p.E1016*; 3:52587430-52587430

c.2214_2222delCAATGAGCC; p.Y738_P741>*; 3:52609658-52609666

c.2354T>G; p.L785R; 3:52609526-52609526

c.835_836insAA; p.I279fs*5; 3:52644767-52644768

c.3110T>G; p.V1037G; 3:52587366-52587366

c.2966-1G>A; p.?; 3:52587511-52587511

c.2890G>C; p.V964L; 3:52589145-52589145

c.3182C>A; p.S1061*; 3:52586630-52586630

c.1550A>G; p.N517S; 3:52617530-52617530

c.362_363insA; p.N121fs*8; 3:52668519-52668520

c.3996delA; p.D1333fs*51; 3:52563373-52563373

c.397G>A; p.E133K; 3:52662264-52662264

c.4349_4350delAT; p.Y1450fs*58; 3:52550756-52550757

c.1318C>T; p.Q440*; 3:52629019-52629019

c.236G>T; p.R79I; 3:52678500-52678500

c.1318C>T; p.Q440*; 3:52629019-52629019

c.1318C>T; p.Q440*; 3:52629019-52629019

c.1727G>T; p.R576L; 3:52617353-52617353

c.1586_1587insT; p.V530fs*3; 3:52617493-52617494

c.236G>T; p.R79I; 3:52678500-52678500

c.3530G>T; p.G1177V; 3:52579057-52579057

c.528+1G>T; p.?; 3:52662132-52662132

c.2217_2218insC; p.E740fs*19; 3:52609662-52609663

c.3767_3771delTTTGT; p.L1256fs*6; 3:52564154-52564158

c.169A>G; p.I57V; 3:52678567-52678567

c.3058_3059delAG; p.S1020fs*1; 3:52587417-52587418

c.3687delT; p.L1230fs*39; 3:52576545-52576545

c.884C>A; p.S295*; 3:52644719-52644719

c.238A>T; p.N80Y; 3:52668644-52668644

c.1713_1714insTT; p.E572fs*16; 3:52617366-52617367

c.4511T>C; p.L1504P; 3:52550486-52550486

c.4231C>T; p.R1411C; 3:52561824-52561824

c.4448_4449insC; p.T1484fs*25; 3:52550548-52550549

c.(3745_3747)delA; p.(P1249)fs*?; 3:52564178-52564178

c.3534-1G>C; p.?; 3:52576699-52576699

c.1658delA; p.K553fs*16; 3:52617422-52617422

c.2886T>C; p.D962D; 3:52589149-52589149

c.2779+1G>T; p.?; 3:52603520-52603520

c.1316_1316delA; p.N439fs*7; 3:52629021-52629021

c.1747G>A; p.E583K; 3:52617333-52617333

c.2889C>G; p.Y963*; 3:52589146-52589146

c.773delA; p.N258fs*25; 3:52648384-52648384

c.2513_2517delATTTA; p.D838fs*7; 3:52609363-52609367

c.268C>T; p.Q90*; 3:52668614-52668614

c.4377_4378delTC; p.P1460fs*48; 3:52550619-52550620

c.727A>T; p.K243*; 3:52648430-52648430

c.3040G>C; p.E1014Q; 3:52587436-52587436

c.307delA; p.M103fs*10; 3:52668575-52668575

c.235_235delA; p.R79fs*16; 3:52678501-52678501

c.996-11_996-1>AA; p.?; 3:52642046-52642056

c.307delA; p.M103fs*10; 3:52668575-52668575

c.1305delA; p.K436fs*2; 3:52629032-52629032

c.1305delA; p.K436fs*2; 3:52629032-52629032

c.3732C>A; p.C1244*; 3:52564193-52564193

c.3161A>T; p.E1054V; 3:52586651-52586651

c.3620_3621insA; p.M1209fs*11; 3:52576611-52576612

c.2495delA; p.N832fs*23; 3:52609385-52609385

c.4249T>G; p.W1417G; 3:52561806-52561806

c.2927delA; p.H976fs*38; 3:52589108-52589108

c.2567+1G>A; p.?; 3:52609312-52609312

c.2785G>T; p.E929*; 3:52589250-52589250

c.2419delA; p.I807fs*18; 3:52609461-52609461

c.529-1G>T; p.?; 3:52658316-52658316

c.215_219delTCATT; p.F72fs*1; 3:52678517-52678521

c.2419delA; p.I807fs*18; 3:52609461-52609461

c.3179A>G; p.E1060G; 3:52586633-52586633

c.2091_2101del11; p.Y697fs*1; 3:52609779-52609789

c.3533+1G>A; p.?; 3:52579053-52579053

c.3032A>G; p.K1011R; 3:52587444-52587444

c.2364A>T; p.S788S; 3:52609516-52609516

c.3393delA; p.E1132fs*27; 3:52579194-52579194

c.2506C>T; p.R836W; 3:52609374-52609374

c.3103T>C; p.C1035R; 3:52587373-52587373

c.2506C>T; p.R836W; 3:52609374-52609374

c.3393delA; p.E1132fs*27; 3:52579194-52579194

c.3393delA; p.E1132fs*27; 3:52579194-52579194

c.1583A>T; p.N528I; 3:52617497-52617497

c.(1750_1752delG; p.(E584)fs*?; 3:52617330-52617330

c.4296G>A; p.M1432I; 3:52550810-52550810

c.1953_1954insA; p.S652fs*13; 3:52609926-52609927

c.580_581delGT; p.V194fs*11; 3:52658263-52658264

c.2899G>T; p.E967*; 3:52589136-52589136

c.3743A>G; p.E1248G; 3:52564182-52564182

c.3869_3875+9del16; p.?; 3:52564041-52564056

c.1743_1747delTGGTG; p.G582fs*18; 3:52617333-52617337

c.489delT; p.D163fs*11; 3:52662172-52662172

c.3762_3763insT; p.L1255fs*4; 3:52564162-52564163

c.3973G>A; p.D1325N; 3:52563396-52563396

c.3892C>T; p.Q1298*; 3:52563477-52563477

c.562C>T; p.Q188*; 3:52658282-52658282

c.3892C>T; p.Q1298*; 3:52563477-52563477

c.4359+1G>T; p.?; 3:52550746-52550746

c.1393C>T; p.P465S; 3:52628944-52628944

c.3691G>T; p.G1231*; 3:52576541-52576541

c.3892C>T; p.Q1298*; 3:52563477-52563477

c.715-1G>C; p.?; 3:52648443-52648443

c.3640G>T; p.E1214*; 3:52576592-52576592

c.3892C>T; p.Q1298*; 3:52563477-52563477

c.2548C>T; p.R850*; 3:52609332-52609332

c.1565G>T; p.R522L; 3:52617515-52617515

c.2548C>T; p.R850*; 3:52609332-52609332

c.1962C>G; p.Y654*; 3:52609918-52609918

c.2548C>T; p.R850*; 3:52609332-52609332

c.145G>C; p.V49L; 3:52678591-52678591

c.1955C>A; p.S652*; 3:52609925-52609925

c.1677T>A; p.Y559*; 3:52617403-52617403

c.3303delT; p.F1101fs*58; 3:52586509-52586509

c.4693_4705del13; p.L1565fs*11; 3:52548107-52548119

c.2944_2951delAGACTGTG; p.R982fs*6; 3:52589084-52589091

c.4339G>C; p.G1447R; 3:52550767-52550767

c.733A>T; p.I245F; 3:52648424-52648424

c.1953delA; p.K651fs*5; 3:52609927-52609927

c.842delA; p.Y281fs*2; 3:52644761-52644761

c.3548G>A; p.W1183*; 3:52576684-52576684

c.4242delG; p.T1415fs*17; 3:52561813-52561813

c.3091delA; p.I1031fs*2; 3:52587385-52587385

c.2965+1G>T; p.?; 3:52589069-52589069

c.2238_2253del16; p.K747fs*23; 3:52609627-52609642

c.435delT; p.R146fs*28; 3:52662226-52662226

c.435delT; p.R146fs*28; 3:52662226-52662226

c.435delT; p.R146fs*28; 3:52662226-52662226

c.3625_3626insA; p.M1209fs*11; 3:52576606-52576607

c.1819-3T>G; p.?; 3:52615459-52615459

c.435delT; p.R146fs*28; 3:52662226-52662226

c.435delT; p.R146fs*28; 3:52662226-52662226

c.1853T>A; p.L618H; 3:52615422-52615422

c.435delT; p.R146fs*28; 3:52662226-52662226

c.435delT; p.R146fs*28; 3:52662226-52662226

c.3625_3626insA; p.M1209fs*11; 3:52576606-52576607

c.2576C>A; p.S859*; 3:52603724-52603724

c.3818G>C; p.G1273A; 3:52564107-52564107

c.2864delA; p.N955fs*59; 3:52589171-52589171

c.2864delA; p.N955fs*59; 3:52589171-52589171

c.2128C>T; p.R710*; 3:52609752-52609752

c.2128C>T; p.R710*; 3:52609752-52609752

c.2128C>T; p.R710*; 3:52609752-52609752

c.438delA; p.T147fs*27; 3:52662223-52662223

c.2128C>T; p.R710*; 3:52609752-52609752

c.1819-2A>T; p.?; 3:52615458-52615458

c.2041_2043delAGT; p.S681delS; 3:52609837-52609839

c.2128C>T; p.R710*; 3:52609752-52609752

c.2128C>T; p.R710*; 3:52609752-52609752

c.2128C>T; p.R710*; 3:52609752-52609752

c.1700A>T; p.D567V; 3:52617380-52617380

c.1514C>T; p.S505F; 3:52627300-52627300

c.2638_2639insA; p.C880fs*1; 3:52603661-52603662

c.3897G>A; p.K1299K; 3:52563472-52563472