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.?; p.?; 9:95469779-95469779

c.4311C>T; p.C1437C; 9:95446945-95446945

c.3562A>G; p.N1188D; 9:95449311-95449311

c.807G>T; p.K269N; 9:95480528-95480528

c.2049C>A; p.S683S; 9:95468952-95468952

c.708_709GG>AA; p.W236_E237>*; 9:95481986-95481987

c.3724G>A; p.E1242K; 9:95449149-95449149

c.3724G>A; p.E1242K; 9:95449149-95449149

c.2969_2982del14; p.A990fs*150; 9:95458199-95458212

c.1968T>A; p.I656I; 9:95469033-95469033

c.774C>T; p.N258N; 9:95480561-95480561

c.3922A>G; p.R1308G; 9:95447334-95447334

c.2064G>A; p.Q688Q; 9:95468937-95468937

c.3851A>G; p.Q1284R; 9:95447405-95447405

c.4096C>A; p.Q1366K; 9:95447160-95447160

c.1195T>C; p.W399R; 9:95479020-95479020

c.2174C>T; p.P725L; 9:95468827-95468827

c.2066C>T; p.P689L; 9:95468935-95468935

c.2066C>T; p.P689L; 9:95468935-95468935

c.1682T>G; p.M561R; 9:95476080-95476080

c.1682T>G; p.M561R; 9:95476080-95476080

c.1682T>G; p.M561R; 9:95476080-95476080

c.3317C>T; p.T1106M; 9:95453610-95453610

c.1682T>G; p.M561R; 9:95476080-95476080

c.1195T>C; p.W399R; 9:95479020-95479020

c.1558_1574del17; p.H520fs*4; 9:95476787-95476803

c.3974delT; p.S1326fs*46; 9:95447282-95447282

c.2355C>T; p.T785T; 9:95467321-95467321

c.2505A>G; p.E835E; 9:95467171-95467171

c.3945delC; p.Y1316fs*56; 9:95447311-95447311

c.536T>C; p.L179P; 9:95485733-95485733

c.4116G>T; p.T1372T; 9:95447140-95447140

c.2812C>T; p.Q938*; 9:95459675-95459675

c.2505A>G; p.E835E; 9:95467171-95467171

c.2566_2568CAG>T; p.Q856fs*1; 9:95461991-95461993

c.3945delC; p.Y1316fs*56; 9:95447311-95447311

c.2407_2408insTG; p.Y804fs*3; 9:95467268-95467269

c.2966A>G; p.E989G; 9:95458215-95458215

c.1321C>A; p.R441S; 9:95478081-95478081

c.1327_1327delG; p.A443fs*13; 9:95478075-95478075

c.1481_1485delCCTTT; p.S494fs*1; 9:95477565-95477569

c.2251-1G>A; p.?; 9:95467426-95467426

c.465T>C; p.P155P; 9:95485804-95485804

c.2910delG; p.E970fs*25; 9:95458271-95458271

c.4255C>T; p.R1419W; 9:95447001-95447001

c.465T>C; p.P155P; 9:95485804-95485804

c.1093C>T; p.Q365*; 9:95479122-95479122

c.1093C>T; p.Q365*; 9:95479122-95479122

c.2910delG; p.E970fs*25; 9:95458271-95458271

c.1093C>T; p.Q365*; 9:95479122-95479122

c.1093C>T; p.Q365*; 9:95479122-95479122

c.1093C>T; p.Q365*; 9:95479122-95479122

c.1251A>G; p.Q417Q; 9:95478151-95478151

c.1093C>T; p.Q365*; 9:95479122-95479122

c.2693A>G; p.D898G; 9:95461866-95461866

c.1998G>A; p.T666T; 9:95469003-95469003

c.465T>C; p.P155P; 9:95485804-95485804

c.1850C>T; p.P617L; 9:95469151-95469151

c.1915T>C; p.Y639H; 9:95469086-95469086

c.2113A>G; p.T705A; 9:95468888-95468888

c.3241G>A; p.V1081M; 9:95456341-95456341

c.2038G>T; p.E680*; 9:95468963-95468963

c.3605C>T; p.P1202L; 9:95449268-95449268

c.2665C>A; p.Q889K; 9:95461894-95461894

c.2665C>A; p.Q889K; 9:95461894-95461894

c.2315G>A; p.R772K; 9:95467361-95467361

c.3449+1G>A; p.?; 9:95453477-95453477

c.4324C>T; p.R1442W; 9:95446932-95446932

c.2015C>T; p.T672M; 9:95468986-95468986

c.1847G>T; p.S616I; 9:95469813-95469813

c.3391G>A; p.V1131M; 9:95453536-95453536

c.3162_3163insG; p.I1055fs*90; 9:95458018-95458019

c.2175C>T; p.P725P; 9:95468826-95468826

c.2703G>T; p.Q901H; 9:95461856-95461856

c.3162_3163insG; p.I1055fs*90; 9:95458018-95458019

c.2496C>A; p.V832V; 9:95467180-95467180

c.286A>T; p.K96*; 9:95506515-95506515

c.3391G>A; p.V1131M; 9:95453536-95453536

c.3391G>A; p.V1131M; 9:95453536-95453536

c.758C>T; p.P253L; 9:95480577-95480577

c.1848-1G>A; p.?; 9:95469154-95469154

c.681G>A; p.L227L; 9:95482014-95482014

c.1439C>G; p.S480*; 9:95477611-95477611

c.2635G>A; p.D879N; 9:95461924-95461924

c.3816C>T; p.P1272P; 9:95447440-95447440

c.768G>A; p.W256*; 9:95480567-95480567

c.1475_1483GAATTTCCT>17; p.F495fs*50; 9:95477567-95477575

c.1475_1483GAATTTCCT>17; p.F495fs*50; 9:95477567-95477575

c.1149A>G; p.S383S; 9:95479066-95479066

c.2663_2664insT; p.Q889fs*7; 9:95461895-95461896

c.2026T>C; p.Y676H; 9:95468975-95468975

c.1721_1722CC>TT; p.S574F; 9:95476040-95476041

c.394+1delG; p.?; 9:95506406-95506406

c.2044C>T; p.R682C; 9:95468957-95468957

c.2333C>T; p.T778M; 9:95467343-95467343

c.3687G>A; p.T1229T; 9:95449186-95449186

c.3168+5G>T; p.?; 9:95458008-95458008

c.1316T>C; p.V439A; 9:95478086-95478086

c.1404_1405insC; p.V469fs*28; 9:95477645-95477646

c.2333C>T; p.T778M; 9:95467343-95467343

c.637_638insG; p.T213fs*39; 9:95482150-95482151

c.292_310del19; p.C98fs*13; 9:95506491-95506509

c.2045G>T; p.R682L; 9:95468956-95468956

c.3456C>A; p.F1152L; 9:95449934-95449934

c.1238A>T; p.Q413L; 9:95478164-95478164

c.1420G>A; p.V474I; 9:95477630-95477630

c.1420G>A; p.V474I; 9:95477630-95477630

c.3124_3125ins?; p.?fs; 9:95458056-95458057

c.2045G>T; p.R682L; 9:95468956-95468956

c.2008C>T; p.P670S; 9:95468993-95468993

c.1063_1067+11del16; p.?; 9:95479969-95479973

c.3169_3306del138; p.V1057_L1102del46; 9:95456276-95456413

c.239_240delGA; p.R80fs*9; 9:95506561-95506562

c.661G>A; p.E221K; 9:95482034-95482034

c.403C>T; p.R135*; 9:95485866-95485866

c.403C>T; p.R135*; 9:95485866-95485866

c.403C>T; p.R135*; 9:95485866-95485866

c.403C>T; p.R135*; 9:95485866-95485866

c.403C>T; p.R135*; 9:95485866-95485866

c.403C>T; p.R135*; 9:95485866-95485866

c.2010_2011insC; p.H671fs*10; 9:95468990-95468991

c.1473C>T; p.I491I; 9:95477577-95477577

c.2010_2011insC; p.H671fs*10; 9:95468990-95468991

c.154C>T; p.R52W; 9:95508208-95508208

c.832T>C; p.W278R; 9:95480503-95480503

c.2003A>G; p.Y668C; 9:95468998-95468998

c.2460C>T; p.Y820Y; 9:95467216-95467216

c.303C>A; p.F101L; 9:95506498-95506498

c.2460C>T; p.Y820Y; 9:95467216-95467216

c.343_344GG>AA; p.G115K; 9:95506457-95506458

c.1642G>A; p.V548M; 9:95476120-95476120

c.550C>A; p.Q184K; 9:95485719-95485719

c.550C>A; p.Q184K; 9:95485719-95485719

c.2231T>C; p.L744P; 9:95468770-95468770

c.3158_3159ins?; p.?fs; 9:95458022-95458023

c.550C>A; p.Q184K; 9:95485719-95485719

c.1820G>C; p.R607T; 9:95469840-95469840

c.445G>A; p.E149K; 9:95485824-95485824

c.2016G>A; p.T672T; 9:95468985-95468985

c.1137C>T; p.Y379Y; 9:95479078-95479078

c.2016G>A; p.T672T; 9:95468985-95468985

c.1137C>T; p.Y379Y; 9:95479078-95479078

c.2207C>T; p.A736V; 9:95468794-95468794

c.622G>T; p.E208*; 9:95482166-95482166

c.1325_1326insT; p.A443fs*54; 9:95478076-95478077

c.983delA; p.H328fs*14; 9:95480053-95480053

c.1137C>T; p.Y379Y; 9:95479078-95479078

c.3641C>T; p.T1214M; 9:95449232-95449232

c.3641C>T; p.T1214M; 9:95449232-95449232

c.706T>C; p.W236R; 9:95481989-95481989

c.3155C>T; p.T1052M; 9:95458026-95458026

c.386G>A; p.W129*; 9:95506415-95506415

c.1980C>T; p.S660S; 9:95469021-95469021

c.3839C>T; p.S1280L; 9:95447417-95447417

c.1362_1375del14; p.C454fs*38; 9:95477675-95477688

c.1855G>A; p.V619I; 9:95469146-95469146

c.528_529AC>CT; p.Q177*; 9:95485740-95485741

c.276T>A; p.C92*; 9:95506525-95506525

c.2704-2A>G; p.?; 9:95459785-95459785

c.1233C>T; p.V411V; 9:95478169-95478169

c.1991_1992ins18; p.P670_H671insRTEYDP; 9:95469009-95469010

c.3236G>T; p.S1079I; 9:95456346-95456346

c.464C>A; p.P155H; 9:95485805-95485805

c.3389C>T; p.A1130V; 9:95453538-95453538

c.1216-1G>A; p.?; 9:95478187-95478187

c.1356T>G; p.Y452*; 9:95477694-95477694

c.394+5G>T; p.?; 9:95506402-95506402

c.754C>T; p.P252S; 9:95480581-95480581

c.2081A>G; p.Q694R; 9:95468920-95468920

c.2888_3167del280; p.I963fs*2; 9:95458014-95458293

c.3590C>T; p.S1197F; 9:95449283-95449283

c.2419A>G; p.T807A; 9:95467257-95467257

c.864T>C; p.G288G; 9:95480471-95480471

c.864T>C; p.G288G; 9:95480471-95480471

c.2419A>G; p.T807A; 9:95467257-95467257

c.2419A>G; p.T807A; 9:95467257-95467257

c.2419A>G; p.T807A; 9:95467257-95467257

c.864T>C; p.G288G; 9:95480471-95480471

c.864T>C; p.G288G; 9:95480471-95480471

c.3492T>C; p.V1164V; 9:95449898-95449898

c.3492T>C; p.V1164V; 9:95449898-95449898

c.3417G>A; p.M1139I; 9:95453510-95453510

c.724_725delCA; p.Q242fs*9; 9:95481970-95481971

c.4204C>T; p.P1402S; 9:95447052-95447052

c.3492T>C; p.V1164V; 9:95449898-95449898

c.2847C>T; p.V949V; 9:95459640-95459640

c.3033C>T; p.N1011N; 9:95458148-95458148

c.2557C>T; p.Q853*; 9:95467119-95467119

c.3449+1G>A; p.?; 9:95453477-95453477

c.804_807delAAAG; p.K270fs*1; 9:95480528-95480531

c.549_550CC>TT; p.Q184*; 9:95485719-95485720

c.441_442TG>AT; p.G148*; 9:95485827-95485828

c.549_550CC>TT; p.Q184*; 9:95485719-95485720

c.1405_1406ins?; p.?fs; 9:95477644-95477645

c.475A>T; p.I159L; 9:95485794-95485794

c.3449+1G>A; p.?; 9:95453477-95453477

c.812_815delTAAA; p.I271fs*11; 9:95480520-95480523

c.296G>A; p.G99D; 9:95506505-95506505

c.1069G>T; p.A357S; 9:95479146-95479146

c.3944C>T; p.P1315L; 9:95447312-95447312

c.3944C>T; p.P1315L; 9:95447312-95447312

c.3944C>T; p.P1315L; 9:95447312-95447312

c.3944C>T; p.P1315L; 9:95447312-95447312

c.1202G>T; p.R401M; 9:95479013-95479013

c.378delG; p.E127fs*10; 9:95506423-95506423

c.3240C>T; p.A1080A; 9:95456342-95456342

c.2120C>T; p.S707F; 9:95468881-95468881

c.2778G>C; p.W926C; 9:95459709-95459709

c.260_271>AA; p.L87fs*1; 9:95506530-95506541

c.1893_1894insC; p.D632fs*22; 9:95469107-95469108

c.2104C>T; p.P702S; 9:95468897-95468897

c.2104C>T; p.P702S; 9:95468897-95468897

c.531A>C; p.Q177H; 9:95485738-95485738

c.1093C>G; p.Q365E; 9:95479122-95479122

c.2886A>G; p.R962R; 9:95459601-95459601

c.4181G>A; p.R1394Q; 9:95447075-95447075

c.1216-6C>T; p.?; 9:95478192-95478192

c.2965G>T; p.E989*; 9:95458216-95458216

c.4181G>A; p.R1394Q; 9:95447075-95447075

c.2886A>G; p.R962R; 9:95459601-95459601

c.981T>A; p.C327*; 9:95480055-95480055

c.3169_3171GTG>A; p.V1057fs*87; 9:95456411-95456413

c.992C>T; p.S331F; 9:95480044-95480044

c.2713C>T; p.Q905*; 9:95459774-95459774

c.2878A>T; p.R960W; 9:95459609-95459609

c.2878A>T; p.R960W; 9:95459609-95459609

c.2865C>A; p.Y955*; 9:95459622-95459622

c.523C>A; p.L175I; 9:95485746-95485746

c.2503G>T; p.E835*; 9:95467173-95467173

c.992C>T; p.S331F; 9:95480044-95480044

c.2865C>A; p.Y955*; 9:95459622-95459622

c.2421C>T; p.T807T; 9:95467255-95467255

c.1023G>C; p.L341F; 9:95480013-95480013

c.571_572insTA; p.Y191fs*30; 9:95485697-95485698

c.3584C>T; p.T1195I; 9:95449289-95449289

c.670delT; p.Y224fs*4; 9:95482025-95482025

c.2793_2794ins22; p.V932fs*34; 9:95459693-95459694

c.3906C>T; p.P1302P; 9:95447350-95447350

c.1603-1G>A; p.?; 9:95476160-95476160

c.1603-1G>A; p.?; 9:95476160-95476160

c.767G>A; p.W256*; 9:95480568-95480568

c.1012C>T; p.Q338*; 9:95480024-95480024

c.3584C>T; p.T1195I; 9:95449289-95449289

c.3193G>T; p.V1065F; 9:95456389-95456389

c.2839G>C; p.E947Q; 9:95459648-95459648

c.3918C>T; p.P1306P; 9:95447338-95447338

c.3138C>T; p.F1046F; 9:95458043-95458043

c.2752G>A; p.A918T; 9:95459735-95459735

c.2839G>C; p.E947Q; 9:95459648-95459648

c.3138C>T; p.F1046F; 9:95458043-95458043

c.757C>T; p.P253S; 9:95480578-95480578

c.2839G>C; p.E947Q; 9:95459648-95459648

c.1396C>G; p.Q466E; 9:95477654-95477654

c.2039A>G; p.E680G; 9:95468962-95468962

c.2793C>T; p.P931P; 9:95459694-95459694

c.3169-2A>G; p.?; 9:95456415-95456415

c.2039A>G; p.E680G; 9:95468962-95468962

c.1869_1870TC>A; p.Q624fs*69; 9:95469131-95469132

c.1274C>T; p.T425M; 9:95478128-95478128

c.1716G>A; p.A572A; 9:95476046-95476046

c.1350delC; p.A451fs*5; 9:95477700-95477700

c.687T>C; p.I229I; 9:95482008-95482008

c.3844C>T; p.P1282S; 9:95447412-95447412

c.1350delC; p.A451fs*5; 9:95477700-95477700

c.2788G>A; p.D930N; 9:95459699-95459699

c.1615G>T; p.E539*; 9:95476147-95476147

c.2050G>T; p.E684*; 9:95468951-95468951

c.2050G>T; p.E684*; 9:95468951-95468951

c.3261C>T; p.I1087I; 9:95456321-95456321

c.1703C>T; p.P568L; 9:95476059-95476059

c.2004C>T; p.Y668Y; 9:95468997-95468997

c.2004C>T; p.Y668Y; 9:95468997-95468997

c.3261C>T; p.I1087I; 9:95456321-95456321

c.1120G>T; p.E374*; 9:95479095-95479095

c.3913G>T; p.D1305Y; 9:95447342-95447342

c.654+3A>G; p.?; 9:95482131-95482131

c.3067G>T; p.G1023C; 9:95458114-95458114

c.3346G>C; p.V1116L; 9:95453581-95453581

c.2004C>T; p.Y668Y; 9:95468997-95468997

c.4046C>G; p.P1349R; 9:95447210-95447210

c.595T>C; p.L199L; 9:95482193-95482193

c.1197G>A; p.W399*; 9:95479018-95479018

c.522G>A; p.A174A; 9:95485747-95485747

c.2408_2411TGTA>TGTGTA; p.Y804fs*3; 9:95467265-95467268

c.2408_2411TGTA>TGTGTA; p.Y804fs*3; 9:95467265-95467268

c.2072C>T; p.T691I; 9:95468929-95468929

c.4236C>T; p.P1412P; 9:95447020-95447020

c.3196G>A; p.E1066K; 9:95456386-95456386

c.3918C>A; p.P1306P; 9:95447338-95447338

c.264_265insAATA; p.K89fs*52; 9:95506536-95506537

c.2072C>T; p.T691I; 9:95468929-95468929

c.584G>T; p.R195M; 9:95485685-95485685

c.250C>T; p.Q84*; 9:95506551-95506551

c.2421_2422CC>TT; p.Q808*; 9:95467254-95467255

c.250C>T; p.Q84*; 9:95506551-95506551

c.3223G>A; p.G1075R; 9:95456359-95456359

c.3959G>A; p.R1320K; 9:95447297-95447297

c.250C>T; p.Q84*; 9:95506551-95506551

c.1322G>A; p.R441H; 9:95478080-95478080

c.202-3C>T; p.?; 9:95506602-95506602

c.407_408insT; p.S137fs*3; 9:95485861-95485862

c.2265C>T; p.F755F; 9:95467411-95467411

c.2588G>T; p.W863L; 9:95461971-95461971

c.2010C>T; p.P670P; 9:95468991-95468991

c.1729-1G>T; p.?; 9:95469932-95469932

c.1809C>T; p.R603R; 9:95469851-95469851

c.463C>T; p.P155S; 9:95485806-95485806

c.1847G>C; p.S616T; 9:95469813-95469813

c.1396C>T; p.Q466*; 9:95477654-95477654

c.2265C>T; p.F755F; 9:95467411-95467411

c.1722C>T; p.S574S; 9:95476040-95476040

c.2887+1G>A; p.?; 9:95459599-95459599

c.447A>G; p.E149E; 9:95485822-95485822

c.447A>G; p.E149E; 9:95485822-95485822

c.447A>G; p.E149E; 9:95485822-95485822

c.2549A>G; p.D850G; 9:95467127-95467127

c.2549A>G; p.D850G; 9:95467127-95467127

c.3728C>G; p.A1243G; 9:95449145-95449145

c.3209T>G; p.M1070R; 9:95456373-95456373

c.1734G>A; p.A578A; 9:95469926-95469926

c.1652C>T; p.T551M; 9:95476110-95476110

c.2938G>T; p.G980C; 9:95458243-95458243

c.290_291insT; p.C98fs*42; 9:95506510-95506511

c.290_291insT; p.C98fs*42; 9:95506510-95506511

c.3725A>G; p.E1242G; 9:95449148-95449148

c.1084A>G; p.T362A; 9:95479131-95479131

c.1450G>A; p.G484R; 9:95477600-95477600

c.1450G>A; p.G484R; 9:95477600-95477600

c.1084A>G; p.T362A; 9:95479131-95479131

c.3543delT; p.P1182fs*9; 9:95449847-95449847

c.1084A>G; p.T362A; 9:95479131-95479131

c.1085C>T; p.T362I; 9:95479130-95479130

c.977G>C; p.G326A; 9:95480059-95480059

c.1474_1475insGAATTTCC; p.F495fs*50; 9:95477575-95477576

c.1314_1315insCAGT; p.V439fs*59; 9:95478087-95478088

c.634_635insG; p.E212fs*40; 9:95482153-95482154

c.801G>A; p.E267E; 9:95480534-95480534

c.438G>C; p.K146N; 9:95485831-95485831

c.801G>A; p.E267E; 9:95480534-95480534

c.1595C>T; p.P532L; 9:95476766-95476766

c.1667delT; p.V556fs*9; 9:95476095-95476095

c.2885G>C; p.R962T; 9:95459602-95459602

c.834G>A; p.W278*; 9:95480501-95480501

c.834G>A; p.W278*; 9:95480501-95480501

c.2453_2454insA; p.L819fs*10; 9:95467222-95467223

c.1634G>A; p.G545E; 9:95476128-95476128

c.493G>T; p.E165*; 9:95485776-95485776

c.3289_3290insNNNNNNNN; p.T1097fs*12; 9:95456292-95456293

c.535C>A; p.L179M; 9:95485734-95485734

c.2778G>A; p.W926*; 9:95459709-95459709

c.2430_2430delA; p.D811fs*19; 9:95467246-95467246

c.991T>C; p.S331P; 9:95480045-95480045

c.2426A>C; p.K809T; 9:95467250-95467250

c.3124_3125ins?; p.?fs; 9:95458056-95458057

c.1755delT; p.F585fs*38; 9:95469905-95469905

c.955A>G; p.M319V; 9:95480081-95480081

c.2908G>T; p.E970*; 9:95458273-95458273

c.2963T>C; p.V988A; 9:95458218-95458218

c.1167_1168GG>AT; p.D390Y; 9:95479047-95479048

c.3047T>C; p.L1016P; 9:95458134-95458134

c.2864A>G; p.Y955C; 9:95459623-95459623

c.3047T>C; p.L1016P; 9:95458134-95458134

c.584_584+1GG>AA; p.?; 9:95485684-95485685

c.2864A>G; p.Y955C; 9:95459623-95459623

c.403C>G; p.R135G; 9:95485866-95485866

c.4054C>A; p.P1352T; 9:95447202-95447202

c.1085C>A; p.T362N; 9:95479130-95479130

c.1520C>T; p.A507V; 9:95476841-95476841

c.1085C>A; p.T362N; 9:95479130-95479130

c.3487G>A; p.G1163S; 9:95449903-95449903

c.290_291insA; p.N97fs*43; 9:95506510-95506511

c.3042C>T; p.P1014P; 9:95458139-95458139

c.1959_1969del11; p.E653fs*24; 9:95469032-95469042

c.1348-1G>A; p.?; 9:95477703-95477703

c.2570A>G; p.D857G; 9:95461989-95461989

c.2570A>G; p.D857G; 9:95461989-95461989

c.290_291insA; p.N97fs*43; 9:95506510-95506511

c.1993C>T; p.R665C; 9:95469008-95469008

c.3301G>T; p.A1101S; 9:95456281-95456281

c.3921delC; p.R1308fs*64; 9:95447335-95447335

c.3921delC; p.R1308fs*64; 9:95447335-95447335

c.3921delC; p.R1308fs*64; 9:95447335-95447335

c.2986_2992delACCATCT; p.T996fs*51; 9:95458189-95458195

c.3921delC; p.R1308fs*64; 9:95447335-95447335

c.3921delC; p.R1308fs*64; 9:95447335-95447335

c.1768C>T; p.L590F; 9:95469892-95469892

c.3921delC; p.R1308fs*64; 9:95447335-95447335

c.4180C>T; p.R1394*; 9:95447076-95447076

c.3424G>A; p.G1142R; 9:95453503-95453503

c.4180C>T; p.R1394*; 9:95447076-95447076

c.3470C>T; p.A1157V; 9:95449920-95449920

c.3386G>A; p.G1129D; 9:95453541-95453541

c.3883C>T; p.P1295S; 9:95447373-95447373

c.4180C>T; p.R1394*; 9:95447076-95447076

c.3447_3448ins14; p.R1150fs*46; 9:95453479-95453480

c.3156_3157ins21; p.T1052_A1053insIRVLLGP; 9:95458024-95458025

c.2777_2778GG>AA; p.W926*; 9:95459709-95459710

c.1307A>G; p.D436G; 9:95478095-95478095

c.3158_3158delC; p.I1055fs*3; 9:95458023-95458023

c.608G>A; p.C203Y; 9:95482180-95482180

c.1068-2A>T; p.?; 9:95479149-95479149

c.237G>A; p.L79L; 9:95506564-95506564

c.2446C>T; p.Q816*; 9:95467230-95467230

c.2446C>T; p.Q816*; 9:95467230-95467230

c.2446C>T; p.Q816*; 9:95467230-95467230

c.2446C>T; p.Q816*; 9:95467230-95467230

c.3402G>A; p.L1134L; 9:95453525-95453525

c.3550-27C>T; p.?; 9:95449350-95449350

c.4153C>T; p.P1385S; 9:95447103-95447103

c.3549+5G>T; p.?; 9:95449836-95449836

c.2227_2228insA; p.F743fs*47; 9:95468773-95468774

c.601C>T; p.H201Y; 9:95482187-95482187

c.2692G>A; p.D898N; 9:95461867-95461867

c.2692G>A; p.D898N; 9:95461867-95461867

c.1249C>T; p.Q417*; 9:95478153-95478153

c.1249C>T; p.Q417*; 9:95478153-95478153

c.2692G>A; p.D898N; 9:95461867-95461867

c.584G>A; p.R195K; 9:95485685-95485685

c.2421C>A; p.T807T; 9:95467255-95467255

c.1249C>T; p.Q417*; 9:95478153-95478153

c.4303G>A; p.V1435M; 9:95446953-95446953

c.3450-4_3470del25; p.?; 9:95449920-95449944

c.479A>G; p.Q160R; 9:95485790-95485790

c.2963T>A; p.V988E; 9:95458218-95458218

c.479A>G; p.Q160R; 9:95485790-95485790

c.3917C>T; p.P1306L; 9:95447339-95447339

c.1847+3A>T; p.?; 9:95469810-95469810

c.2638_2668del31; p.G880fs*13; 9:95461891-95461921

c.2708_2709insAT; p.K904fs*21; 9:95459778-95459779

c.3741G>A; p.A1247A; 9:95449132-95449132

c.2313_2319GAGAGAC>GAGAC; p.D773fs*16; 9:95467357-95467363

c.2313_2319GAGAGAC>GAGAC; p.D773fs*16; 9:95467357-95467363

c.3277G>T; p.G1093*; 9:95456305-95456305

c.2679C>T; p.R893R; 9:95461880-95461880

c.2635delG; p.D879fs*24; 9:95461924-95461924

c.3249_3250GG>TT; p.V1084F; 9:95456332-95456333

c.1353delC; p.Y452fs*4; 9:95477697-95477697

c.563delT; p.V188fs*32; 9:95485706-95485706

c.2173C>T; p.P725S; 9:95468828-95468828

c.1560C>T; p.H520H; 9:95476801-95476801

c.4140C>T; p.A1380A; 9:95447116-95447116

c.2582_2583insT; p.D862fs*1; 9:95461976-95461977

c.2787C>T; p.N929N; 9:95459700-95459700

c.3054G>A; p.W1018*; 9:95458127-95458127

c.3204C>T; p.F1068F; 9:95456378-95456378

c.4328G>T; p.G1443V; 9:95446928-95446928

c.3499G>A; p.G1167R; 9:95449891-95449891

c.3054G>A; p.W1018*; 9:95458127-95458127

c.3054G>A; p.W1018*; 9:95458127-95458127

c.3054G>A; p.W1018*; 9:95458127-95458127

c.2062C>A; p.Q688K; 9:95468939-95468939

c.2250+1G>A; p.?; 9:95468750-95468750

c.3026_3027AC>AAC; p.Y1009fs*1; 9:95458154-95458155

c.3026_3027AC>AAC; p.Y1009fs*1; 9:95458154-95458155

c.1800A>T; p.L600F; 9:95469860-95469860

c.3906C>A; p.P1302P; 9:95447350-95447350

c.3906C>A; p.P1302P; 9:95447350-95447350

c.1962G>A; p.T654T; 9:95469039-95469039

c.2321G>A; p.G774E; 9:95467355-95467355

c.2209G>T; p.E737*; 9:95468792-95468792

c.3855G>T; p.Q1285H; 9:95447401-95447401

c.2012A>T; p.H671L; 9:95468989-95468989

c.3855G>T; p.Q1285H; 9:95447401-95447401

c.2309G>A; p.R770Q; 9:95467367-95467367

c.3876C>T; p.S1292S; 9:95447380-95447380

c.3450-1G>A; p.?; 9:95449941-95449941

c.3876C>T; p.S1292S; 9:95447380-95447380

c.2781C>T; p.V927V; 9:95459706-95459706

c.550C>T; p.Q184*; 9:95485719-95485719

c.2710_2711insTTC; p.K904>IQ; 9:95459776-95459777

c.2209G>A; p.E737K; 9:95468792-95468792

c.550C>T; p.Q184*; 9:95485719-95485719

c.2485G>A; p.V829M; 9:95467191-95467191

c.2485G>A; p.V829M; 9:95467191-95467191

c.550C>T; p.Q184*; 9:95485719-95485719

c.2454_2455AC>AAC; p.L819fs*10; 9:95467221-95467222

c.1686C>T; p.A562A; 9:95476076-95476076

c.3499G>T; p.G1167W; 9:95449891-95449891

c.1081C>T; p.Q361*; 9:95479134-95479134

c.2454_2455AC>AAC; p.L819fs*10; 9:95467221-95467222

c.1686C>T; p.A562A; 9:95476076-95476076

c.1164_1165insC; p.E389fs*48; 9:95479050-95479051

c.1081C>T; p.Q361*; 9:95479134-95479134

c.2794G>A; p.V932I; 9:95459693-95459693

c.1703_1704CC>TT; p.P568L; 9:95476058-95476059

c.551A>G; p.Q184R; 9:95485718-95485718

c.2628A>T; p.G876G; 9:95461931-95461931

c.1285delG; p.D429fs*3; 9:95478117-95478117

c.1355A>G; p.Y452C; 9:95477695-95477695

c.1503+1G>A; p.?; 9:95477546-95477546

c.1324delG; p.V442fs*14; 9:95478078-95478078

c.1226_1227delAG; p.S410fs*26; 9:95478175-95478176

c.2487G>T; p.V829V; 9:95467189-95467189

c.1094A>G; p.Q365R; 9:95479121-95479121

c.1094A>G; p.Q365R; 9:95479121-95479121

c.1005G>A; p.M335I; 9:95480031-95480031

c.4249C>T; p.H1417Y; 9:95447007-95447007

c.1687G>A; p.A563T; 9:95476075-95476075

c.1687G>A; p.A563T; 9:95476075-95476075

c.1068-2_1068-1AG>CT; p.?; 9:95479148-95479149

c.2227T>C; p.F743L; 9:95468774-95468774

c.2227T>C; p.F743L; 9:95468774-95468774

c.303C>T; p.F101F; 9:95506498-95506498

c.3162delG; p.I1055fs*3; 9:95458019-95458019

c.271G>A; p.G91S; 9:95506530-95506530

c.2227T>C; p.F743L; 9:95468774-95468774

c.1602+1G>A; p.?; 9:95476758-95476758

c.1176G>T; p.A392A; 9:95479039-95479039

c.2000A>C; p.E667A; 9:95469001-95469001

c.3205_3215del11; p.G1069fs*72; 9:95456367-95456377

c.3100G>T; p.V1034L; 9:95458081-95458081

c.277_278insA; p.Y93fs*1; 9:95506523-95506524

c.4014_4034del21; p.W1339_R1345delWGPRGAR; 9:95447222-95447242

c.1777_1778CC>TT; p.P593F; 9:95469882-95469883

c.405A>G; p.R135R; 9:95485864-95485864

c.2258T>C; p.V753A; 9:95467418-95467418

c.2023T>C; p.Y675H; 9:95468978-95468978

c.3634G>A; p.G1212S; 9:95449239-95449239

c.405A>G; p.R135R; 9:95485864-95485864

c.3634G>A; p.G1212S; 9:95449239-95449239

c.1082A>G; p.Q361R; 9:95479133-95479133

c.1348-1delG; p.?; 9:95477703-95477703

c.1603G>T; p.D535Y; 9:95476159-95476159

c.1314T>A; p.S438R; 9:95478088-95478088

c.2907C>T; p.I969I; 9:95458274-95458274

c.857_861AGGTT>G; p.E286fs*37; 9:95480474-95480478

c.3156_3163GGCCGGGA>19; p.A1053fs*2; 9:95458018-95458025

c.1344_1347delCATG; p.M449fs*6; 9:95478055-95478058

c.2178_2179insC; p.C727fs*11; 9:95468822-95468823

c.3191C>T; p.T1064M; 9:95456391-95456391

c.2178_2179insC; p.C727fs*11; 9:95468822-95468823

c.809_818del10; p.K270fs*10; 9:95480517-95480526

c.2048C>T; p.S683F; 9:95468953-95468953

c.1062_1063insT; p.V355fs*82; 9:95479973-95479974

c.3549+5G>A; p.?; 9:95449836-95449836

c.1512A>G; p.P504P; 9:95476849-95476849

c.3239C>A; p.A1080D; 9:95456343-95456343

c.1512A>G; p.P504P; 9:95476849-95476849

c.1068-2A>G; p.?; 9:95479149-95479149

c.2936A>G; p.N979S; 9:95458245-95458245

c.2334G>A; p.T778T; 9:95467342-95467342

c.3306+1G>A; p.?; 9:95456275-95456275

c.3005C>T; p.T1002M; 9:95458176-95458176

c.2560G>A; p.G854R; 9:95467116-95467116

c.2447A>T; p.Q816L; 9:95467229-95467229

c.2439delG; p.N814fs*16; 9:95467237-95467237

c.1250A>C; p.Q417P; 9:95478152-95478152

c.746+2_746+3insCCC; p.?; 9:95481946-95481947

c.1977G>A; p.Q659Q; 9:95469024-95469024

c.?; p.?; 9:95456260-95456260

c.2975A>G; p.E992G; 9:95458206-95458206

c.887G>T; p.C296F; 9:95480448-95480448

c.3054_3055GG>AA; p.W1018_E1019>*; 9:95458126-95458127

c.1504-8T>C; p.?; 9:95476865-95476865

c.1501C>T; p.Q501*; 9:95477549-95477549

c.3490G>C; p.V1164L; 9:95449900-95449900

c.2362T>C; p.Y788H; 9:95467314-95467314

c.1922C>T; p.P641L; 9:95469079-95469079

c.1703_1711delCCGCTCTGC; p.P568_L570delPAL; 9:95476051-95476059

c.3591C>T; p.S1197S; 9:95449282-95449282

c.1504-8T>C; p.?; 9:95476865-95476865

c.726delG; p.Q242fs*8; 9:95481969-95481969

c.1541A>G; p.D514G; 9:95476820-95476820

c.1922C>A; p.P641H; 9:95469079-95469079

c.494A>G; p.E165G; 9:95485775-95485775

c.1249_1250ins28; p.Q417fs*29; 9:95478152-95478153

c.2067C>A; p.P689P; 9:95468934-95468934

c.881G>C; p.R294P; 9:95480454-95480454

c.445G>T; p.E149*; 9:95485824-95485824

c.881G>C; p.R294P; 9:95480454-95480454

c.494A>G; p.E165G; 9:95485775-95485775

c.2206G>A; p.A736T; 9:95468795-95468795

c.3473_3478TCCTCA>TCCTCCTCA; p.L1159_T1160insL; 9:95449912-95449917

c.3473_3478TCCTCA>TCCTCCTCA; p.L1159_T1160insL; 9:95449912-95449917

c.1862_1863delGA; p.R621fs*5; 9:95469138-95469139

c.881G>C; p.R294P; 9:95480454-95480454

c.881G>C; p.R294P; 9:95480454-95480454

c.1998G>C; p.T666T; 9:95469003-95469003

c.2738T>C; p.I913T; 9:95459749-95459749

c.4080C>T; p.S1360S; 9:95447176-95447176

c.1854C>A; p.C618*; 9:95469147-95469147

c.1094A>T; p.Q365L; 9:95479121-95479121

c.1854C>A; p.C618*; 9:95469147-95469147

c.881G>A; p.R294H; 9:95480454-95480454

c.713G>A; p.G238E; 9:95481982-95481982

c.307delG; p.V103fs*14; 9:95506494-95506494

c.1361_1389del29; p.C454fs*1; 9:95477661-95477689

c.1341_1344delACTC; p.L448fs*7; 9:95478058-95478061

c.2560G>T; p.G854*; 9:95467116-95467116

c.1127_1143del17; p.F376fs*55; 9:95479072-95479088

c.525C>A; p.L175L; 9:95485744-95485744

c.3401T>A; p.L1134Q; 9:95453526-95453526

c.3071T>C; p.L1024P; 9:95458110-95458110

c.833G>A; p.W278*; 9:95480502-95480502

c.747-1G>A; p.?; 9:95480589-95480589

c.1062_1063insC; p.V355fs*82; 9:95479973-95479974

c.3964G>A; p.A1322T; 9:95447292-95447292

c.2307_2308CC>TT; p.R770*; 9:95467368-95467369

c.2588G>A; p.W863*; 9:95461971-95461971

c.724C>T; p.Q242*; 9:95481971-95481971

c.1359_1362delCTGT; p.C454fs*1; 9:95477688-95477691

c.1247C>G; p.T416S; 9:95478155-95478155

c.724C>T; p.Q242*; 9:95481971-95481971

c.2307_2308CC>TT; p.R770*; 9:95467368-95467369

c.2307_2308CC>TT; p.R770*; 9:95467368-95467369

c.1600G>C; p.E534Q; 9:95476761-95476761

c.721T>A; p.L241I; 9:95481974-95481974

c.2034C>T; p.T678T; 9:95468967-95468967

c.1247C>G; p.T416S; 9:95478155-95478155

c.2588G>A; p.W863*; 9:95461971-95461971

c.2307_2308CC>TT; p.R770*; 9:95467368-95467369

c.1433C>T; p.A478V; 9:95477617-95477617

c.1481C>T; p.S494F; 9:95477569-95477569

c.1433C>T; p.A478V; 9:95477617-95477617

c.1292T>A; p.L431Q; 9:95478110-95478110

c.451G>A; p.A151T; 9:95485818-95485818

c.1711C>T; p.R571W; 9:95476051-95476051

c.325T>G; p.F109V; 9:95506476-95506476

c.1688C>T; p.A563V; 9:95476074-95476074

c.4204C>A; p.P1402T; 9:95447052-95447052

c.1175C>T; p.A392V; 9:95479040-95479040

c.?; p.?; 9:95456242-95456242

c.2581_2582insT; p.S861fs*2; 9:95461977-95461978

c.3588C>A; p.P1196P; 9:95449285-95449285

c.4294C>T; p.L1432L; 9:95446962-95446962

c.4058C>T; p.A1353V; 9:95447198-95447198

c.1161G>A; p.W387*; 9:95479054-95479054

c.1160G>A; p.W387*; 9:95479055-95479055

c.1161G>A; p.W387*; 9:95479054-95479054

c.1198C>T; p.Q400*; 9:95479017-95479017

c.3435C>T; p.F1145F; 9:95453492-95453492

c.2147_2148CC>TT; p.S716F; 9:95468853-95468854

c.3490G>A; p.V1164I; 9:95449900-95449900

c.1993C>G; p.R665G; 9:95469008-95469008

c.2447A>G; p.Q816R; 9:95467229-95467229

c.1932C>A; p.P644P; 9:95469069-95469069

c.2677_2678insC; p.R893fs*3; 9:95461881-95461882

c.1082A>C; p.Q361P; 9:95479133-95479133

c.379G>C; p.E127Q; 9:95506422-95506422

c.4275G>A; p.S1425S; 9:95446981-95446981

c.4275G>A; p.S1425S; 9:95446981-95446981

c.4275G>A; p.S1425S; 9:95446981-95446981

c.682A>C; p.I228L; 9:95482013-95482013

c.2178delC; p.C727fs*19; 9:95468823-95468823

c.379G>C; p.E127Q; 9:95506422-95506422

c.387G>A; p.W129*; 9:95506414-95506414

c.1589G>T; p.R530I; 9:95476772-95476772

c.2198C>A; p.S733*; 9:95468803-95468803

c.862G>T; p.G288C; 9:95480473-95480473

c.2634C>T; p.D878D; 9:95461925-95461925

c.1361G>A; p.C454Y; 9:95477689-95477689

c.545C>T; p.A182V; 9:95485724-95485724

c.2012A>G; p.H671R; 9:95468989-95468989

c.956T>C; p.M319T; 9:95480080-95480080

c.2578G>C; p.D860H; 9:95461981-95461981

c.523C>T; p.L175F; 9:95485746-95485746

c.1948T>G; p.F650V; 9:95469053-95469053

c.4274C>T; p.S1425L; 9:95446982-95446982

c.477A>G; p.I159M; 9:95485792-95485792

c.3378_3379CC>TT; p.(=); 9:95453548-95453549

c.446A>T; p.E149V; 9:95485823-95485823

c.2077A>G; p.T693A; 9:95468924-95468924

c.3324C>T; p.I1108I; 9:95453603-95453603

c.2772G>T; p.T924T; 9:95459715-95459715

c.2794G>T; p.V932F; 9:95459693-95459693

c.3183G>A; p.A1061A; 9:95456399-95456399

c.1727A>C; p.Q576P; 9:95476035-95476035

c.2062C>T; p.Q688*; 9:95468939-95468939

c.4235C>T; p.P1412L; 9:95447021-95447021

c.2560+1G>A; p.?; 9:95467115-95467115

c.2778_2779GG>AA; p.W926_V927>*; 9:95459708-95459709

c.4299G>A; p.Q1433Q; 9:95446957-95446957

c.4306G>T; p.E1436*; 9:95446950-95446950

c.2778_2779GG>AA; p.W926_V927>*; 9:95459708-95459709

c.1148C>T; p.S383L; 9:95479067-95479067

c.4299G>A; p.Q1433Q; 9:95446957-95446957

c.3792C>T; p.F1264F; 9:95449081-95449081

c.3606delC; p.S1203fs*52; 9:95449267-95449267

c.394+3_394+20del; p.?; 9:95506387-95506404

c.3606delC; p.S1203fs*52; 9:95449267-95449267

c.3606delC; p.S1203fs*52; 9:95449267-95449267

c.2439G>A; p.P813P; 9:95467237-95467237

c.3606delC; p.S1203fs*52; 9:95449267-95449267

c.2073C>A; p.T691T; 9:95468928-95468928

c.1466C>T; p.S489L; 9:95477584-95477584

c.1361_1364delGTCT; p.C454fs*1; 9:95477686-95477689

c.2073C>A; p.T691T; 9:95468928-95468928

c.2983A>G; p.R995G; 9:95458198-95458198

c.478C>T; p.Q160*; 9:95485791-95485791

c.3606delC; p.S1203fs*52; 9:95449267-95449267

c.826G>T; p.D276Y; 9:95480509-95480509

c.3606delC; p.S1203fs*52; 9:95449267-95449267

c.3606delC; p.S1203fs*52; 9:95449267-95449267

c.3606delC; p.S1203fs*52; 9:95449267-95449267

c.4172G>A; p.R1391Q; 9:95447084-95447084

c.3375C>T; p.P1125P; 9:95453552-95453552

c.1255G>A; p.V419M; 9:95478147-95478147

c.2384T>C; p.F795S; 9:95467292-95467292

c.2553G>A; p.W851*; 9:95467123-95467123

c.3129C>T; p.C1043C; 9:95458052-95458052

c.1887delC; p.Y630fs*63; 9:95469114-95469114

c.3196G>T; p.E1066*; 9:95456386-95456386

c.3196G>T; p.E1066*; 9:95456386-95456386

c.2250+25T>C; p.?; 9:95468726-95468726

c.1120G>A; p.E374K; 9:95479095-95479095

c.1374_1375ins12; p.L458_R459insLTML; 9:95477675-95477676

c.1726C>T; p.Q576*; 9:95476036-95476036

c.2063A>G; p.Q688R; 9:95468938-95468938

c.1726C>T; p.Q576*; 9:95476036-95476036

c.709G>A; p.E237K; 9:95481986-95481986

c.2063A>G; p.Q688R; 9:95468938-95468938

c.709G>A; p.E237K; 9:95481986-95481986

c.2063A>G; p.Q688R; 9:95468938-95468938

c.1726C>T; p.Q576*; 9:95476036-95476036

c.709G>A; p.E237K; 9:95481986-95481986

c.2050G>A; p.E684K; 9:95468951-95468951

c.2938G>A; p.G980S; 9:95458243-95458243

c.3592C>T; p.P1198S; 9:95449281-95449281

c.3462T>C; p.A1154A; 9:95449928-95449928

c.3705C>T; p.S1235S; 9:95449168-95449168

c.3223G>T; p.G1075*; 9:95456359-95456359

c.1804C>T; p.R602*; 9:95469856-95469856

c.1804C>T; p.R602*; 9:95469856-95469856

c.1804C>T; p.R602*; 9:95469856-95469856

c.1804C>T; p.R602*; 9:95469856-95469856

c.1766_1767insC; p.L590fs*37; 9:95469893-95469894

c.1804C>T; p.R602*; 9:95469856-95469856

c.1804C>T; p.R602*; 9:95469856-95469856

c.1804C>T; p.R602*; 9:95469856-95469856

c.272G>A; p.G91D; 9:95506529-95506529

c.4171C>T; p.R1391W; 9:95447085-95447085

c.2308C>T; p.R770*; 9:95467368-95467368

c.1216-4_1227del16; p.?; 9:95478175-95478190

c.2308C>T; p.R770*; 9:95467368-95467368

c.2561-1G>A; p.?; 9:95461999-95461999

c.1804C>T; p.R602*; 9:95469856-95469856

c.2042C>T; p.P681L; 9:95468959-95468959

c.994A>T; p.R332*; 9:95480042-95480042

c.2042C>T; p.P681L; 9:95468959-95468959

c.1641C>T; p.S547S; 9:95476121-95476121

c.2042C>T; p.P681L; 9:95468959-95468959

c.712_713insA; p.G238fs*14; 9:95481982-95481983

c.1493_1494insTG; p.T499fs*44; 9:95477556-95477557

c.1452A>G; p.G484G; 9:95477598-95477598

c.2208T>C; p.A736A; 9:95468793-95468793

c.2208T>C; p.A736A; 9:95468793-95468793

c.1776delT; p.P593fs*30; 9:95469884-95469884

c.689C>T; p.T230I; 9:95482006-95482006

c.1452A>G; p.G484G; 9:95477598-95477598

c.2831A>G; p.H944R; 9:95459656-95459656

c.2813A>T; p.Q938L; 9:95459674-95459674

c.405A>T; p.R135R; 9:95485864-95485864

c.3765C>T; p.I1255I; 9:95449108-95449108

c.1930C>T; p.P644S; 9:95469071-95469071

c.262_274del13; p.F88fs*25; 9:95506527-95506539

c.1229G>A; p.S410N; 9:95478173-95478173

c.899C>A; p.A300D; 9:95480436-95480436

c.3081_3082insG; p.L1028fs*117; 9:95458099-95458100

c.287A>G; p.K96R; 9:95506514-95506514

c.3120C>T; p.F1040F; 9:95458061-95458061

c.3129_3130insGTGTGC; p.C1043_A1044insVC; 9:95458051-95458052

c.3192G>A; p.T1064T; 9:95456390-95456390

c.3803C>G; p.T1268S; 9:95449070-95449070

c.710A>G; p.E237G; 9:95481985-95481985

c.4220G>A; p.G1407D; 9:95447036-95447036

c.4280T>G; p.V1427G; 9:95446976-95446976

c.3970G>A; p.E1324K; 9:95447286-95447286

c.2477delT; p.F826fs*4; 9:95467199-95467199

c.2678G>A; p.R893H; 9:95461881-95461881

c.2106A>G; p.P702P; 9:95468895-95468895

c.3349C>T; p.L1117F; 9:95453578-95453578

c.2985G>T; p.R995S; 9:95458196-95458196

c.4321C>T; p.P1441S; 9:95446935-95446935

c.1992C>T; p.L664L; 9:95469009-95469009

c.430_431ins11; p.R144fs*19; 9:95485838-95485839

c.958delG; p.A320fs*4; 9:95480078-95480078

c.552G>T; p.Q184H; 9:95485717-95485717

c.4028G>A; p.G1343E; 9:95447228-95447228

c.2791_2793CCC>T; p.P931fs*27; 9:95459694-95459696

c.430_431ins11; p.R144fs*19; 9:95485838-95485839

c.1585A>T; p.K529*; 9:95476776-95476776

c.430_431ins11; p.R144fs*19; 9:95485838-95485839

c.2486T>C; p.V829A; 9:95467190-95467190

c.1196G>A; p.W399*; 9:95479019-95479019

c.2287G>A; p.V763I; 9:95467389-95467389

c.865delC; p.H289fs*35; 9:95480470-95480470

c.1871A>G; p.Q624R; 9:95469130-95469130

c.1196G>A; p.W399*; 9:95479019-95479019

c.3472_3473insTCC; p.L1159_T1160insL; 9:95449917-95449918

c.2320G>A; p.G774R; 9:95467356-95467356

c.262_265delTTTA; p.F88fs*28; 9:95506536-95506539

c.1684G>A; p.A562T; 9:95476078-95476078

c.1222C>A; p.H408N; 9:95478180-95478180

c.2320G>A; p.G774R; 9:95467356-95467356

c.2709_2713delTAAAC; p.K904fs*10; 9:95459774-95459778

c.1136A>G; p.Y379C; 9:95479079-95479079

c.3340A>T; p.R1114W; 9:95453587-95453587

c.114_115insG; p.L39fs*51; 9:95508247-95508248

c.3302_3303ins16; p.L1102fs*48; 9:95456279-95456280

c.1810G>C; p.E604Q; 9:95469850-95469850

c.3130G>A; p.A1044T; 9:95458051-95458051

c.1846A>G; p.S616G; 9:95469814-95469814

c.1083G>T; p.Q361H; 9:95479132-95479132

c.114_115insG; p.L39fs*51; 9:95508247-95508248

c.1846A>G; p.S616G; 9:95469814-95469814

c.524T>C; p.L175P; 9:95485745-95485745

c.524T>C; p.L175P; 9:95485745-95485745

c.2011C>T; p.H671Y; 9:95468990-95468990

c.524T>C; p.L175P; 9:95485745-95485745

c.2105C>T; p.P702L; 9:95468896-95468896

c.524T>C; p.L175P; 9:95485745-95485745

c.1847G>A; p.S616N; 9:95469813-95469813

c.2105C>T; p.P702L; 9:95468896-95468896

c.524T>C; p.L175P; 9:95485745-95485745

c.1421T>C; p.V474A; 9:95477629-95477629

c.1511C>A; p.P504Q; 9:95476850-95476850

c.2768T>C; p.L923P; 9:95459719-95459719

c.1421T>C; p.V474A; 9:95477629-95477629

c.1511C>A; p.P504Q; 9:95476850-95476850

c.1725C>T; p.L575L; 9:95476037-95476037

c.3509_3538>GGA; p.L1170_P1180>WT; 9:95449852-95449881

c.1854C>T; p.C618C; 9:95469147-95469147

c.3158_3159insCGGC; p.I1055fs*91; 9:95458022-95458023

c.2765_2766ins14; p.Y922fs*1; 9:95459721-95459722

c.2184G>A; p.T728T; 9:95468817-95468817

c.2066C>A; p.P689H; 9:95468935-95468935

c.3153G>A; p.W1051*; 9:95458028-95458028

c.521C>T; p.A174V; 9:95485748-95485748

c.2066C>A; p.P689H; 9:95468935-95468935

c.4187G>A; p.G1396E; 9:95447069-95447069

c.299A>C; p.K100T; 9:95506502-95506502

c.2066C>A; p.P689H; 9:95468935-95468935

c.3153G>A; p.W1051*; 9:95458028-95458028

c.1394_1396CCC>A; p.S465fs*1; 9:95477654-95477656

c.707G>A; p.W236*; 9:95481988-95481988

c.707G>A; p.W236*; 9:95481988-95481988

c.707G>A; p.W236*; 9:95481988-95481988

c.707G>A; p.W236*; 9:95481988-95481988

c.1738_1739ins35; p.V581fs*11; 9:95469921-95469922

c.1169A>G; p.D390G; 9:95479046-95479046

c.707G>A; p.W236*; 9:95481988-95481988

c.1712G>A; p.R571Q; 9:95476050-95476050

c.707G>A; p.W236*; 9:95481988-95481988

c.768G>C; p.W256C; 9:95480567-95480567

c.3708_3709GG>AA; p.E1237K; 9:95449164-95449165

c.3119_3120insT; p.L1041fs*104; 9:95458061-95458062

c.3583A>T; p.T1195S; 9:95449290-95449290

c.3583A>T; p.T1195S; 9:95449290-95449290

c.3583A>T; p.T1195S; 9:95449290-95449290

c.666T>C; p.Y222Y; 9:95482029-95482029

c.3583A>T; p.T1195S; 9:95449290-95449290

c.4179C>T; p.P1393P; 9:95447077-95447077

c.3921_3921delC; p.R1308fs*64; 9:95447334-95447334

c.1321C>T; p.R441C; 9:95478081-95478081

c.2033C>T; p.T678I; 9:95468968-95468968

c.1347+1G>A; p.?; 9:95478054-95478054

c.2082G>A; p.Q694Q; 9:95468919-95468919

c.3046C>T; p.L1016F; 9:95458135-95458135

c.2709_2710insAA; p.Q905fs*20; 9:95459777-95459778

c.3292G>A; p.V1098I; 9:95456290-95456290

c.1276A>G; p.T426A; 9:95478126-95478126

c.3292G>A; p.V1098I; 9:95456290-95456290

c.1251A>C; p.Q417H; 9:95478151-95478151

c.1347+1G>A; p.?; 9:95478054-95478054

c.1645G>A; p.A549T; 9:95476117-95476117

c.1796_1799delATTT; p.L600fs*22; 9:95469861-95469864

c.863G>A; p.G288D; 9:95480472-95480472

c.863G>A; p.G288D; 9:95480472-95480472

c.3025_3026insA; p.Y1009fs*1; 9:95458155-95458156

c.2947G>A; p.D983N; 9:95458234-95458234

c.1067+1G>A; p.?; 9:95479968-95479968

c.3586C>T; p.P1196S; 9:95449287-95449287

c.2863T>C; p.Y955H; 9:95459624-95459624

c.1450G>T; p.G484*; 9:95477600-95477600

c.3194T>G; p.V1065G; 9:95456388-95456388

c.518_522delAAGCG; p.E173fs*77; 9:95485747-95485751

c.3491T>C; p.V1164A; 9:95449899-95449899

c.3306+83insG; p.?; 9:95456217-95456218

c.731G>T; p.G244V; 9:95481964-95481964

c.1729-18delT; p.?; 9:95469949-95469949

c.475A>G; p.I159V; 9:95485794-95485794

c.3716G>T; p.R1239L; 9:95449157-95449157

c.1729-18delT; p.?; 9:95469949-95469949

c.1744_1746delGTG; p.V582delV; 9:95469914-95469916

c.2372T>C; p.I791T; 9:95467304-95467304

c.711A>G; p.E237E; 9:95481984-95481984

c.2372T>C; p.I791T; 9:95467304-95467304

c.3169-1_3169GG>AA; p.?; 9:95456414-95456414

c.936T>A; p.N312K; 9:95480399-95480399

c.3141T>G; p.L1047L; 9:95458040-95458040

c.2532G>C; p.W844C; 9:95467144-95467144

c.3253_3254insA; p.I1085fs*60; 9:95456328-95456329

c.1347G>A; p.M449I; 9:95478055-95478055

c.2323C>T; p.L775L; 9:95467353-95467353

c.2940_2941insNN; p.L981fs*15; 9:95458240-95458241

c.3101T>A; p.V1034E; 9:95458080-95458080

c.3668C>T; p.S1223L; 9:95449205-95449205

c.1123C>T; p.H375Y; 9:95479092-95479092

c.1687G>T; p.A563S; 9:95476075-95476075

c.2080C>T; p.Q694*; 9:95468921-95468921

c.1805G>A; p.R602Q; 9:95469855-95469855

c.2313_2314delGA; p.D773fs*16; 9:95467362-95467363

c.2080C>T; p.Q694*; 9:95468921-95468921

c.2364T>A; p.Y788*; 9:95467312-95467312

c.666T>A; p.Y222*; 9:95482029-95482029