PCGP germline mutation   [Top]

PCGP somatic mutation   [Top]

PTCH1_S861fs; chr9; 98224259

PTCH1_Q409fs; chr9; 98240457

PTCH1_L663>PARSTTL; chr9; 98231292

COSMIC somatic mutation   [Top]

c.3129_3130insGTGTGC; p.C1043_A1044insVC; 9:97260154-97260155

c.1361_1364delGTCT; p.C454fs*1; 9:97279789-97279792

c.3913G>T; p.D1305Y; 9:97249445-97249445

c.2635G>A; p.D879N;

c.1322G>A; p.R441H;

c.3944T>C; p.L1315P;

c.1703_1704CC>TT; p.P568L; 9:97278161-97278162

c.1615G>T; p.E539*; 9:97278250-97278250

c.1688C>T; p.A563V; 9:97278177-97278177

c.834G>A; p.W278*; 9:97282604-97282604

c.3153G>A; p.W1051*; 9:97260131-97260131

c.709G>A; p.E237K; 9:97284089-97284089

c.1511C>A; p.P504Q; 9:97278953-97278953

c.3708_3709GG>AA; p.E1237K; 9:97251267-97251268

c.1249C>T; p.Q417*; 9:97280256-97280256

c.4187G>A; p.G1396E; 9:97249172-97249172

c.2777_2778GG>AA; p.W926*; 9:97261812-97261813

c.549_550CC>TT; p.Q184*; 9:97287822-97287823

c.2446C>T; p.Q816*; 9:97269333-97269333

c.1481C>T; p.S494F; 9:97279672-97279672

c.?; p.?; 9:97258363-97258363

c.475A>T; p.I159L; 9:97287897-97287897

c.343_344GG>AA; p.G115K; 9:97308560-97308561

c.?; p.?; 9:97271882-97271882

c.3449+1G>A; p.?; 9:97255580-97255580

c.1848-1G>A; p.?; 9:97271257-97271257

c.1726C>T; p.Q576*; 9:97278139-97278139

c.445G>T; p.E149*; 9:97287927-97287927

c.3046C>T; p.L1016F; 9:97260238-97260238

c.1439C>G; p.S480*; 9:97279714-97279714

c.1847+3A>T; p.?; 9:97271913-97271913

c.3153G>A; p.W1051*; 9:97260131-97260131

c.286A>T; p.K96*; 9:97308618-97308618

c.1167_1168GG>AT; p.D390Y; 9:97281150-97281151

c.708_709GG>AA; p.W236_E237>*; 9:97284089-97284090

c.3054_3055GG>AA; p.W1018_E1019>*; 9:97260229-97260230

c.?; p.?; 9:97258345-97258345

c.2372T>C; p.I791T; 9:97269407-97269407

c.3499G>A; p.G1167R; 9:97251994-97251994

c.2446C>T; p.Q816*; 9:97269333-97269333

c.3306+1G>A; p.?; 9:97258378-97258378

c.3921_3921delC; p.R1308fs*64; 9:97249437-97249437

c.3138C>T; p.F1046F;

c.724C>T; p.Q242*; 9:97284074-97284074

c.1804C>T; p.R602*; 9:97271959-97271959

c.724C>T; p.Q242*; 9:97284074-97284074

c.1216-6C>T; p.?; 9:97280295-97280295

c.3168+5G>T; p.?; 9:97260111-97260111

c.2038G>T; p.E680*; 9:97271066-97271066

c.1703_1711delCCGCTCTGC; p.P568_L570delPAL; 9:97278154-97278162

c.747-1G>A; p.?; 9:97282692-97282692

c.2421_2422CC>TT; p.Q808*; 9:97269357-97269358

c.550C>T; p.Q184*; 9:97287822-97287822

c.2477delT; p.F826fs*4; 9:97269302-97269302

c.1324delG; p.V442fs*14; 9:97280181-97280181

c.2693A>G; p.D898G; 9:97263969-97263969

c.1347+1G>A; p.?; 9:97280157-97280157

c.2910delG; p.E970fs*25; 9:97260374-97260374

c.1347+1G>A; p.?; 9:97280157-97280157

c.3550-27C>T; p.?; 9:97251453-97251453

c.1481_1485delCCTTT; p.S494fs*1; 9:97279668-97279672

c.1216-4_1227del16; p.?; 9:97280278-97280293

c.1804C>T; p.R602*; 9:97271959-97271959

c.1634G>A; p.G545E; 9:97278231-97278231

c.478C>T; p.Q160*; 9:97287894-97287894

c.394+1delg; p.?; 9:97308509-97308509

c.2713C>T; p.Q905*; 9:97261877-97261877

c.2439delG; p.N814fs*16; 9:97269340-97269340

c.2910delG; p.E970fs*25; 9:97260374-97260374

c.2865C>A; p.Y955*; 9:97261725-97261725

c.2421C>T; p.T807T; 9:97269358-97269358

c.1603-1G>A; p.?; 9:97278263-97278263

c.387G>A; p.W129*; 9:97308517-97308517

c.3724G>A; p.E1242K; 9:97251252-97251252

c.2446C>T; p.Q816*; 9:97269333-97269333

c.1068-2_1068-1AG>CT; p.?; 9:97281251-97281252

c.4140C>T; p.A1380A; 9:97249219-97249219

c.1356T>G; p.Y452*; 9:97279797-97279797

c.493G>T; p.E165*; 9:97287879-97287879

c.833G>A; p.W278*; 9:97282605-97282605

c.2050G>T; p.E684*; 9:97271054-97271054

c.3449+1G>A; p.?; 9:97255580-97255580

c.809_818del10; p.K270fs*10; 9:97282620-97282629

c.3549+5G>A; p.?; 9:97251939-97251939

c.1067+1G>A; p.?; 9:97282071-97282071

c.3447_3448ins14; p.R1150fs*46; 9:97255582-97255583

c.3169_3306del138; p.V1057_L1102del46; 9:97258379-97258516

c.1350delC; p.A451fs*5; 9:97279803-97279803

c.2010_2011insC; p.H671fs*10; 9:97271093-97271094

c.2888_3167del280; p.I963fs*2; 9:97260117-97260396

c.1450G>A; p.G484R; 9:97279703-97279703

c.2066C>T; p.P689L; 9:97271038-97271038

c.1012C>T; p.Q338*; 9:97282127-97282127

c.403C>T; p.R135*; 9:97287969-97287969

c.3162_3163insG; p.I1055fs*90; 9:97260121-97260122

c.1374_1375ins12; p.L458_R459insLTML; 9:97279778-97279779

c.?; p.W844C;

c.?; p.W844C;

c.2887+1G>A; p.?; 9:97261702-97261702

c.264_265insAATA; p.K89fs*52; 9:97308639-97308640

c.955A>G; p.M319V; 9:97282184-97282184

c.1729-18delT; p.?; 9:97272052-97272052

c.1729-18delT; p.?; 9:97272052-97272052

c.2532G>C; p.W844C; 9:97269247-97269247

c.2885G>C; p.R962T; 9:97261705-97261705

c.239_240delGA; p.R80fs*9; 9:97308664-97308665

c.571_572insTA; p.Y191fs*30; 9:97287800-97287801

c.1341_1344delACTC; p.L448fs*7; 9:97280161-97280164

c.1350delC; p.A451fs*5; 9:97279803-97279803

c.2010_2011insC; p.H671fs*10; 9:97271093-97271094

c.3205_3215del11; p.G1069fs*72; 9:97258470-97258480

c.713G>A; p.G238E; 9:97284085-97284085

c.1930C>T; p.P644S; 9:97271174-97271174

c.2048C>T; p.S683F; 9:97271056-97271056

c.3592C>T; p.P1198S; 9:97251384-97251384

c.2561-1G>A; p.?; 9:97264102-97264102

c.277_278insA; p.Y93fs*1; 9:97308626-97308627

c.262_274del13; p.F88fs*25; 9:97308630-97308642

c.2066C>T; p.P689L; 9:97271038-97271038

c.1703C>T; p.P568L; 9:97278162-97278162

c.707G>A; p.W236*; 9:97284091-97284091

c.2588G>A; p.W863*; 9:97264074-97264074

c.2812C>T; p.Q938*; 9:97261778-97261778

c.2765_2766ins14; p.Y922fs*1; 9:97261824-97261825

c.1893_1894insC; p.D632fs*22; 9:97271210-97271211

c.3209T>G; p.M1070R; 9:97258476-97258476

c.1249_1250ins28; p.Q417fs*29; 9:97280255-97280256

c.2709_2710insAA; p.Q905fs*20; 9:97261880-97261881

c.1285delG; p.D429fs*3; 9:97280220-97280220

c.292_310del19; p.C98fs*13; 9:97308594-97308612

c.865delC; p.H289fs*35; 9:97282573-97282573

c.804_807delAAAG; p.K270fs*1; 9:97282631-97282634

c.1854C>A; p.C618*; 9:97271250-97271250

c.2446C>T; p.Q816*; 9:97269333-97269333

c.1062_1063insC; p.V355fs*82; 9:97282076-97282077

c.1361_1389del29; p.C454fs*1; 9:97279764-97279792

c.2793_2794ins22; p.V932fs*34; 9:97261796-97261797

c.1667delT; p.V556fs*9; 9:97278198-97278198

c.3169-1_3169GG>AA; p.?; 9:97258517-97258517

c.994A>T; p.R332*; 9:97282145-97282145

c.1585A>T; p.K529*; 9:97278879-97278879

c.1023G>C; p.L341F; 9:97282116-97282116

c.3974delT; p.S1326fs*46; 9:97249385-97249385

c.3922A>G; p.R1308G; 9:97249437-97249437

c.2045G>T; p.R682L; 9:97271059-97271059

c.307delG; p.V103fs*14; 9:97308597-97308597

c.2062C>A; p.Q688K; 9:97271042-97271042

c.403C>T; p.R135*; 9:97287969-97287969

c.3583A>T; p.T1195S; 9:97251393-97251393

c.?; p.P1315L;

c.?; p.P1315L;

c.?; p.Q628*;

c.1093C>T; p.Q365*; 9:97281225-97281225

c.451G>A; p.A151T;

c.3169-2A>G; p.?;

c.550C>T; p.Q184*; 9:97287822-97287822

c.3450-1G>A; p.?;

c.1603-1G>A; p.?; 9:97278263-97278263

c.250C>T; p.Q84*;

c.1161G>A; p.W387*; 9:97281157-97281157

c.707G>A; p.W236*; 9:97284091-97284091

c.709G>A; p.E237K; 9:97284089-97284089

c.2557C>T; p.Q853*;

c.1959_1969del11; p.E653fs*24;

c.1726C>T; p.Q576*; 9:97278139-97278139

c.2265C>T; p.F755F;

c.2265C>T; p.F755F;

c.812_815delTAAA; p.I271fs*11;

c.3253_3254insA; p.I1085fs*60;

c.394+3_394+20del; p.?;

c.3156_3163GGCCGGGA>19; p.A1053fs*2;

c.2709_2713delTAAAC; p.K904fs*10;

c.1359_1362delCTGT; p.C454fs*1;

c.1493_1494insTG; p.T499fs*44;

c.536T>C; p.L179P;

c.1164_1165insC; p.E389fs*48;

c.2638_2668del31; p.G880fs*13;

c.260_271>AA; p.L87fs*1;

c.3346G>C; p.V1116L;

c.1127_1143del17; p.F376fs*55;

c.202-3C>T; p.?;

c.1362_1375del14; p.C454fs*38;

c.1327_1327delG; p.A443fs*13;

c.1344_1347delCATG; p.M449fs*6;

c.407_408insT; p.S137fs*3;

c.3081_3082insG; p.L1028fs*117;

c.2430_2430delA; p.D811fs*19;

c.1063_1067+11del16; p.?;

c.2908G>T; p.E970*;

c.262_265delTTTA; p.F88fs*28;

c.1394_1396CCC>A; p.S465fs*1;

c.2080C>T; p.Q694*; 9:97271024-97271024

c.1687G>A; p.A563T;

c.1602+1G>A; p.?;

c.3194T>G; p.V1065G;

c.3054G>A; p.W1018*; 9:97260230-97260230

c.1249C>T; p.Q417*; 9:97280256-97280256

c.3634G>A; p.G1212S; 9:97251342-97251342

c.2873delA; p.T959fs*3;

c.290_291insT; p.C98fs*42; 9:97308613-97308614

c.992C>T; p.S331F; 9:97282147-97282147

c.1093C>T; p.Q365*; 9:97281225-97281225

c.1047delC; p.N349fs*18;

c.2146delT; p.S716fs*30;

c.3944T>C; p.L1315P;

c.1434_1437delACTG; p.L479fs*11;

c.2985G>T; p.R995S; 9:97260299-97260299

c.3054G>A; p.W1018*; 9:97260230-97260230

c.2560G>T; p.G854*; 9:97269219-97269219

c.2250+25T>C; p.?; 9:97270829-97270829

c.2250+1G>A; p.?; 9:97270853-97270853

c.3378_3379CC>TT; p.(=); 9:97255651-97255652

c.2287delG; p.V763fs*9;

c.2321G>A; p.G774E; 9:97269458-97269458

c.3634G>A; p.G1212S; 9:97251342-97251342

c.378delG; p.E127fs*10; 9:97308526-97308526

c.3590C>T; p.S1197F; 9:97251386-97251386

c.2778G>A; p.W926*; 9:97261812-97261812

c.2873delA; p.T959fs*3;

c.290_291insT; p.C98fs*42; 9:97308613-97308614

c.1863_1864delAG; p.R621fs*5;

c.2364T>A; p.Y788*; 9:97269415-97269415

c.758_776del19; p.L254fs*9;

c.528_529AC>CT; p.Q177*; 9:97287843-97287844

c.2778_2779GG>AA; p.W926_V927>*; 9:97261811-97261812

c.1804C>T; p.R602*; 9:97271959-97271959

c.864_871delTCATGGTT; p.Y291fs*25;

c.2891_2892ins17; p.A965fs*36;

c.3236G>T; p.S1079I; 9:97258449-97258449

c.1085C>A; p.T362N; 9:97281233-97281233

c.3417G>A; p.M1139I; 9:97255613-97255613

c.3490G>A; p.V1164I; 9:97252003-97252003

c.3470_3471delCG; p.A1157fs*26;

c.1503+1G>A; p.?; 9:97279649-97279649

c.523C>T; p.L175F; 9:97287849-97287849

c.1081C>T; p.Q361*; 9:97281237-97281237

c.1137C>T; p.Y379Y; 9:97281181-97281181

c.2447A>T; p.Q816L; 9:97269332-97269332

c.1887delC; p.Y630fs*63; 9:97271217-97271217

c.3196G>T; p.E1066*; 9:97258489-97258489

c.3340A>T; p.R1114W; 9:97255690-97255690

c.518_522delAAGCG; p.E173fs*77; 9:97287850-97287854

c.3584C>T; p.T1195I; 9:97251392-97251392

c.3641C>T; p.T1214M; 9:97251335-97251335

c.1085C>T; p.T362I; 9:97281233-97281233

c.1316T>C; p.V439A; 9:97280189-97280189

c.754C>T; p.P252S; 9:97282684-97282684

c.1229G>A; p.S410N; 9:97280276-97280276

c.2072C>T; p.T691I; 9:97271032-97271032

c.1405_1406ins?; p.?fs; 9:97279747-97279748

c.1433C>T; p.A478V; 9:97279720-97279720

c.2033C>T; p.T678I; 9:97271071-97271071

c.3840G>T; p.S1280S;

c.3852G>T; p.Q1284H;

c.3906C>A; p.P1302P; 9:97249453-97249453

c.3852G>T; p.Q1284H;

c.3906C>A; p.P1302P; 9:97249453-97249453

c.3876C>T; p.S1292S; 9:97249483-97249483

c.634_635insG; p.E212fs*40; 9:97284256-97284257

c.637_638insG; p.T213fs*39; 9:97284253-97284254

c.3944T>C; p.L1315P;

c.1371delG; p.M457fs*34;

c.1371delG; p.M457fs*34;

c.3728C>G; p.A1243G; 9:97251248-97251248

c.1371delG; p.M457fs*34;

c.3641delC; p.T1214fs*41;

c.3660_3661insC; p.S1221fs*6;

c.1588_1589delAG; p.R530fs*4;

c.3128_3129insGTGTG; p.C1043fs*8;

c.3124_3125ins?; p.?fs; 9:97260159-97260160

c.2796_2797insCCCCGTC; p.A933fs*28;

c.746+2_746+3insCCC; p.?; 9:97284049-97284050

c.2173C>T; p.P725S; 9:97270931-97270931

c.1093C>T; p.Q365*; 9:97281225-97281225

c.3944T>C; p.L1315P;

c.3583A>T; p.T1195S; 9:97251393-97251393

c.1434_1437delACTG; p.L479fs*11;

c.2477_2478insGGGACCT; p.F826fs*5;

c.1804C>T; p.R602*; 9:97271959-97271959

c.463C>T; p.P155S; 9:97287909-97287909

c.584G>A; p.R195K; 9:97287788-97287788

c.1993C>G; p.R665G; 9:97271111-97271111

c.3586C>T; p.P1196S; 9:97251390-97251390

c.3856_3867del12; p.P1286_D1289del;

c.1092_1093CC>TT; p.Q365*;

c.857_861AGGTT>G; p.E286fs*37; 9:97282577-97282581

c.2791_2793CCC>T; p.P931fs*27; 9:97261797-97261799

c.2716_2729del14; p.L907fs*4;

c.2566_2568CAG>T; p.Q856fs*1; 9:97264094-97264096

c.441_442TG>AT; p.G148*; 9:97287930-97287931

c.2965G>T; p.E989*; 9:97260319-97260319

c.768G>A; p.W256*; 9:97282670-97282670

c.2251-1G>A; p.?; 9:97269529-97269529

c.1456_1461delGGCCTG; p.G486_L487del;

c.1404_1405insTGCC; p.V469fs*29;

c.3158_3159ins?; p.?fs; 9:97260125-97260126

c.2979delA; p.V994fs*1;

c.3124_3125ins?; p.?fs; 9:97260159-97260160

c.1511C>A; p.P504Q; 9:97278953-97278953

c.3499G>T; p.G1167W; 9:97251994-97251994

c.813_819delAAACTAT; p.N272fs*9;

c.2492_2493insAGTA; p.Y831*;

c.1396C>T; p.Q466*; 9:97279757-97279757

c.1673_1695del23; p.F559fs*60;

c.2866_2867delAT; p.M956fs*2;

c.2178_2179insC; p.C727fs*11;

c.1196G>A; p.W399*; 9:97281122-97281122

c.549_550CC>TT; p.Q184*; 9:97287822-97287823

c.879_880CC>TT; p.R294C;

c.3815_3816CC>TT; p.P1272L;

c.3249delG; p.V1084fs*3;

c.879_880CC>TT; p.R294C;

c.1082A>C; p.Q361P; 9:97281236-97281236

c.1986_1987CC>TT; p.Q663*;

c.2105C>T; p.P702L; 9:97270999-97270999

c.2008C>T; p.P670S; 9:97271096-97271096

c.2134_2144del11; p.S713fs*21;

c.2307_2308CC>TT; p.R770*;

c.2307_2308CC>TT; p.R770*;

c.3374_3375CC>TT; p.P1125L;

c.2307_2308CC>TT; p.R770*;

c.2747_2748CC>AT; p.P916H;

c.2778_2779GG>AA; p.W926_V927>*; 9:97261811-97261812

c.3320_3321CC>TT; p.A1107V;

c.3605C>T; p.P1202L; 9:97251371-97251371

c.2287G>A; p.V763I; 9:97269492-97269492

c.712_713insA; p.G238fs*14; 9:97284085-97284086

c.1106_1107CC>TT; p.P369L;

c.863G>A; p.G288D; 9:97282575-97282575

c.1977G>A; p.Q659Q; 9:97271127-97271127

c.550C>T; p.Q184*; 9:97287822-97287822

c.2120C>T; p.S707F; 9:97270984-97270984

c.2207C>T; p.A736V; 9:97270897-97270897

c.2011C>T; p.H671Y; 9:97271093-97271093

c.1922C>T; p.P641L; 9:97271182-97271182

c.290_291insA; p.N97fs*43; 9:97308613-97308614

c.3944T>C; p.L1315P;

c.2969_2982del14; p.A990fs*150; 9:97260302-97260315

c.2986_2992delACCATCT; p.T996fs*51; 9:97260292-97260298

c.3169_3171GTG>A; p.V1057fs*87; 9:97258514-97258516

c.3306+83insG; p.?; 9:97258320-97258321

c.1726C>T; p.Q576*; 9:97278139-97278139

c.3240C>T; p.A1080A; 9:97258445-97258445

c.2334G>A; p.T778T; 9:97269445-97269445

c.3724G>A; p.E1242K; 9:97251252-97251252

c.584G>T; p.R195M; 9:97287788-97287788

c.1992C>T; p.L664L; 9:97271112-97271112

c.1093C>T; p.Q365*; 9:97281225-97281225

c.1847G>A; p.S616N; 9:97271916-97271916

c.709G>A; p.E237K; 9:97284089-97284089

c.3196G>T; p.E1066*; 9:97258489-97258489

c.2004C>T; p.Y668Y; 9:97271100-97271100

c.1249C>T; p.Q417*; 9:97280256-97280256

c.2308C>T; p.R770*; 9:97269471-97269471

c.2062C>T; p.Q688*; 9:97271042-97271042

c.1292T>A; p.L431Q; 9:97280213-97280213

c.1161G>A; p.W387*; 9:97281157-97281157

c.707G>A; p.W236*; 9:97284091-97284091

c.3487G>A; p.G1163S; 9:97252006-97252006

c.1393_1394insC; p.Q466fs*31;

c.3054G>A; p.W1018*; 9:97260230-97260230

c.1729-1G>T; p.?; 9:97272035-97272035

c.1504-8T>C; p.?; 9:97278968-97278968

c.2708_2709insAT; p.K904fs*21; 9:97261881-97261882

c.2385_2399del15; p.K796_F800del;

c.4080C>T; p.S1360S;

c.2975A>G; p.E992G; 9:97260309-97260309

c.2863T>C; p.Y955H; 9:97261727-97261727

c.2000A>C; p.E667A; 9:97271104-97271104

c.2485G>A; p.V829M; 9:97269294-97269294

c.584_584+1GG>AA; p.?; 9:97287787-97287788

c.4255C>T; p.R1419W;

c.3803C>G; p.T1268S;

c.1120G>A; p.E374K;

c.3792C>T; p.F1264F;

c.2878A>T; p.R960W;

c.2831A>G; p.H944R;

c.1968T>A; p.I656I;

c.1474_1475insGAATTTCC; p.F495fs*50;

c.1475_1483GAATTTCCT>17; p.F495fs*50;

c.1475_1483GAATTTCCT>17; p.F495fs*50;

c.1120G>T; p.E374*;

c.2453_2454insA; p.L819fs*10;

c.2454_2455AC>AAC; p.L819fs*10;

c.2454_2455AC>AAC; p.L819fs*10;

c.2888_4344del1457; p.?;

c.3192G>A; p.T1064T;

c.731G>T; p.G244V;

c.1682T>G; p.M561R; 9:97278183-97278183

c.983delA; p.H328fs*14; 9:97282156-97282156

c.1325_1326insT; p.A443fs*54; 9:97280179-97280180

c.2635delG; p.D879fs*24; 9:97264027-97264027

c.1558_1574del17; p.H520fs*4; 9:97278890-97278906

c.1247C>G; p.T416S; 9:97280258-97280258

c.403C>T; p.R135*; 9:97287969-97287969

c.3162_3163insG; p.I1055fs*90; 9:97260121-97260122

c.1712G>A; p.R571Q;

c.1682T>G; p.M561R; 9:97278183-97278183

c.394+5G>T; p.?;

c.3249_3250GG>TT; p.V1084F;

c.1687G>T; p.A563S;

c.1176G>T; p.A392A;

c.545C>T; p.A182V;

c.2064G>A; p.Q688Q;

c.1238A>T; p.Q413L;

c.1501C>T; p.Q501*;

c.958delG; p.A320fs*4;

c.3289_3290insNNNNNNNN; p.T1097fs*12; 9:97258395-97258396

c.2940_2941insNN; p.L981fs*15; 9:97260343-97260344

c.3302_3303ins16; p.L1102fs*48; 9:97258382-97258383

c.726delG; p.Q242fs*8; 9:97284072-97284072

c.707G>A; p.W236*; 9:97284091-97284091

c.2710_2711insTTC; p.K904>IQ;

c.3277G>T; p.G1093*;

c.563delT; p.V188fs*32;

c.1862_1863delGA; p.R621fs*5;

c.1348-1delg; p.?;

c.3158_3159insCGGC; p.I1055fs*91;

c.2768T>C; p.L923P;

c.1755delT; p.F585fs*38;

c.981T>A; p.C327*;

c.2227_2228insA; p.F743fs*47;

c.3101T>A; p.V1034E;

c.3100G>T; p.V1034L;

c.3119_3120insT; p.L1041fs*104;

c.1738_1739ins35; p.V581fs*11;

c.2778G>C; p.W926C;

c.707G>A; p.W236*; 9:97284091-97284091

c.2677_2678insC; p.R893fs*3;

c.1404_1405insC; p.V469fs*28;

c.2178_2179insC; p.C727fs*11;

c.3156_3157ins21; p.T1052_A1053insIRVLLGP;

c.689C>T; p.T230I;

c.3025_3026insA; p.Y1009fs*1;

c.3026_3027AC>AAC; p.Y1009fs*1;

c.3026_3027AC>AAC; p.Y1009fs*1;

c.2313_2314delGA; p.D773fs*16;

c.2313_2319GAGAGAC>GAGAC; p.D773fs*16;

c.2313_2319GAGAGAC>GAGAC; p.D773fs*16;

c.1222C>A; p.H408N;

c.3472_3473insTCC; p.L1159_T1160insL;

c.3473_3478TCCTCA>TCCTCCTCA; p.L1159_T1160insL;

c.3473_3478TCCTCA>TCCTCCTCA; p.L1159_T1160insL;

c.2407_2408insTG; p.Y804fs*3;

c.2408_2411TGTA>TGTGTA; p.Y804fs*3;

c.2408_2411TGTA>TGTGTA; p.Y804fs*3;

c.1216-1G>A; p.?;

c.3162delG; p.I1055fs*3;

c.3450-4_3470del25; p.?;

c.1744_1746delGTG; p.V582delV;

c.724_725delCA; p.Q242fs*9;

c.2663_2664insT; p.Q889fs*7;

c.1314_1315insCAGT; p.V439fs*59;

c.3389C>T; p.A1130V;

c.1721_1722CC>TT; p.S574F;

c.3687G>A; p.T1229T;

c.1869_1870TC>A; p.Q624fs*69; 9:97271234-97271235

c.2503G>T; p.E835*; 9:97269276-97269276

c.899C>A; p.A300D;

c.1247C>G; p.T416S; 9:97280258-97280258

c.1682T>G; p.M561R; 9:97278183-97278183

c.2553G>A; p.W851*;

c.2665C>A; p.Q889K;

c.299A>C; p.K100T;

c.1137C>T; p.Y379Y; 9:97281181-97281181

c.3183G>A; p.A1061A;

c.1766_1767insC; p.L590fs*37;

c.2560+1G>A; p.?;

c.1847G>C; p.S616T;

c.3855G>T; p.Q1285H;

c.3944C>T; p.P1315L;

c.3944T>C; p.L1315P;

c.3917C>T; p.P1306L; 9:97249442-97249442

c.2042C>T; p.P681L; 9:97271062-97271062

c.1062_1063insT; p.V355fs*82; 9:97282076-97282077

c.1093C>T; p.Q365*; 9:97281225-97281225

c.1068-2A>T; p.?; 9:97281252-97281252

c.1796_1799delATTT; p.L600fs*22; 9:97271964-97271967

c.1160G>A; p.W387*; 9:97281158-97281158

c.3152_3153GG>AA; p.W1051*;

c.2320G>A; p.G774R;

c.1725C>T; p.L575L; 9:97278140-97278140

c.2581_2582insT; p.S861fs*2;

c.1226_1227delAG; p.S410fs*26;

c.272G>A; p.G91D;

c.271G>A; p.G91S;

c.3375C>T; p.P1125P;

c.2793C>T; p.P931P;

c.2044C>T; p.R682C;

c.666T>A; p.Y222*; 9:97284132-97284132

c.3279A>G; p.G1093G; 9:97258406-97258406

c.4180C>T; p.R1394*; 9:97249179-97249179

c.2229C>A; p.F743L; 9:97270875-97270875

c.1396C>G; p.Q466E;

c.1420G>A; p.V474I; 9:97279733-97279733

c.2963T>A; p.V988E; 9:97260321-97260321

c.1847G>T; p.S616I;

c.3424G>A; p.G1142R;

c.4096C>A; p.Q1366K;

c.3301G>T; p.A1101S; 9:97258384-97258384

c.4321C>T; p.P1441S;

c.1820G>C; p.R607T;

c.3193G>T; p.V1065F;

c.758C>T; p.P253L;

c.1123C>T; p.H375Y;

c.2936A>G; p.N979S;

c.661G>A; p.E221K;

c.768G>C; p.W256C;

c.438G>C; p.K146N;

c.4306G>T; p.E1436*;

c.3067G>T; p.G1023C;

c.2947G>A; p.D983N;

c.595T>C; p.L199L;

c.1069G>T; p.A357S;

c.3129C>T; p.C1043C;

c.3668C>T; p.S1223L;

c.531A>C; p.Q177H;

c.550C>A; p.Q184K;

c.465T>C; p.P155P;

c.992C>T; p.S331F; 9:97282147-97282147

c.1195T>C; p.W399R;

c.707G>A; p.W236*; 9:97284091-97284091

c.832T>C; p.W278R;

c.710A>G; p.E237G;

c.386G>A; p.W129*;

c.1094A>G; p.Q365R;

c.1136A>G; p.Y379C;

c.2426A>C; p.K809T;

c.1233C>T; p.V411V;

c.2421C>A; p.T807T;

c.3033C>T; p.N1011N;

c.1652C>T; p.T551M;

c.2333C>T; p.T778M;

c.3239C>A; p.A1080D;

c.524T>C; p.L175P;

c.1084A>G; p.T362A;

c.2505A>G; p.E835E;

c.2570A>G; p.D857G;

c.1321C>T; p.R441C;

c.2042C>T; p.P681L; 9:97271062-97271062

c.2419A>G; p.T807A;

c.3241G>A; p.V1081M;

c.2016G>A; p.T672T;

c.2781C>T; p.V927V;

c.1195T>C; p.W399R;

c.1093C>G; p.Q365E;

c.403C>G; p.R135G;

c.2496C>A; p.V832V;

c.1962G>A; p.T654T;

c.721T>A; p.L241I;

c.3606delC; p.S1203fs*52;

c.2460C>T; p.Y820Y;

c.1727A>C; p.Q576P;

c.2938G>A; p.G980S;

c.2460C>T; p.Y820Y;

c.3945delC; p.Y1316fs*56;

c.3492T>C; p.V1164V;

c.2865C>A; p.Y955*; 9:97261725-97261725

c.524T>C; p.L175P;

c.494A>G; p.E165G;

c.524T>C; p.L175P;

c.2419A>G; p.T807A;

c.3725A>G; p.E1242G;

c.2320G>A; p.G774R;

c.1809C>T; p.R603R;

c.2016G>A; p.T672T;

c.524T>C; p.L175P;

c.2104C>T; p.P702S;

c.1711C>T; p.R571W;

c.687T>C; p.I229I;

c.2628A>T; p.G876G;

c.1005G>A; p.M335I;

c.1420G>A; p.V474I; 9:97279733-97279733

c.2692G>A; p.D898N;

c.3765C>T; p.I1255I;

c.2679C>T; p.R893R;

c.2026T>C; p.Y676H;

c.774C>T; p.N258N;

c.3324C>T; p.I1108I;

c.325T>G; p.F109V;

c.864T>C; p.G288G;

c.1450G>A; p.G484R; 9:97279703-97279703

c.3945delC; p.Y1316fs*56;

c.1083G>T; p.Q361H;

c.2198C>A; p.S733*;

c.4275G>A; p.S1425S;

c.3456C>A; p.F1152L;

c.2907C>T; p.I969I;

c.4311C>T; p.C1437C;

c.2362T>C; p.Y788H;

c.1846A>G; p.S616G;

c.834G>A; p.W278*; 9:97282604-97282604

c.3292G>A; p.V1098I;

c.1169A>G; p.D390G;

c.2066C>A; p.P689H;

c.2063A>G; p.Q688R;

c.2073C>A; p.T691T;

c.1093C>T; p.Q365*; 9:97281225-97281225

c.2570A>G; p.D857G;

c.2034C>T; p.T678T;

c.1805G>A; p.R602Q;

c.1421T>C; p.V474A;

c.1251A>G; p.Q417Q;

c.405A>G; p.R135R;

c.447A>G; p.E149E;

c.2227T>C; p.F743L;

c.2106A>G; p.P702P;

c.447A>G; p.E149E;

c.3261C>T; p.I1087I;

c.1589G>T; p.R530I;

c.807G>T; p.K269N;

c.3435C>T; p.F1145F;

c.2938G>T; p.G980C;

c.1804C>T; p.R602*; 9:97271959-97271959

c.4275G>A; p.S1425S;

c.303C>A; p.F101L;

c.3391G>A; p.V1131M;

c.3223G>A; p.G1075R;

c.1276A>G; p.T426A;

c.622G>T; p.E208*;

c.1810G>C; p.E604Q;

c.3839C>T; p.S1280L;

c.864T>C; p.G288G;

c.1600G>C; p.E534Q;

c.465T>C; p.P155P;

c.2174C>T; p.P725L;

c.1421T>C; p.V474A;

c.2692G>A; p.D898N;

c.2886A>G; p.R962R;

c.2050G>A; p.E684K;

c.2039A>G; p.E680G;

c.2227T>C; p.F743L;

c.447A>G; p.E149E;

c.956T>C; p.M319T;

c.3386G>A; p.G1129D;

c.479A>G; p.Q160R;

c.1452A>G; p.G484G;

c.3876C>T; p.S1292S; 9:97249483-97249483

c.2105C>T; p.P702L; 9:97270999-97270999

c.2050G>T; p.E684*; 9:97271054-97271054

c.864T>C; p.G288G;

c.551A>G; p.Q184R;

c.1196G>A; p.W399*; 9:97281122-97281122

c.2049C>A; p.S683S;

c.2012A>G; p.H671R;

c.1932C>A; p.P644P;

c.711A>G; p.E237E;

c.552G>T; p.Q184H;

c.550C>A; p.Q184K;

c.2045G>T; p.R682L; 9:97271059-97271059

c.2794G>T; p.V932F;

c.3921delC; p.R1308fs*64;

c.2486T>C; p.V829A;

c.2073C>A; p.T691T;

c.2227T>C; p.F743L;

c.1512A>G; p.P504P;

c.864T>C; p.G288G;

c.1082A>G; p.Q361R;

c.1084A>G; p.T362A;

c.403C>T; p.R135*; 9:97287969-97287969

c.2703G>T; p.Q901H;

c.881G>A; p.R294H;

c.2004C>T; p.Y668Y; 9:97271100-97271100

c.4054C>A; p.P1352T;

c.2794G>A; p.V932I;

c.3191C>T; p.T1064M;

c.445G>A; p.E149K;

c.2206G>A; p.A736T;

c.550C>A; p.Q184K;

c.666T>C; p.Y222Y;

c.479A>G; p.Q160R;

c.2175C>T; p.P725P;

c.2692G>A; p.D898N;

c.2063A>G; p.Q688R;

c.2012A>T; p.H671L;

c.2104C>T; p.P702S;

c.1846A>G; p.S616G;

c.3449+1G>A; p.?; 9:97255580-97255580

c.2419A>G; p.T807A;

c.706T>C; p.W236R;

c.2813A>T; p.Q938L;

c.464C>A; p.P155H;

c.403C>T; p.R135*; 9:97287969-97287969

c.3054G>A; p.W1018*; 9:97260230-97260230

c.2208T>C; p.A736A;

c.446A>T; p.E149V;

c.2864A>G; p.Y955C;

c.2063A>G; p.Q688R;

c.991T>C; p.S331P;

c.4181G>A; p.R1394Q;

c.3641C>T; p.T1214M; 9:97251335-97251335

c.2963T>C; p.V988A;

c.290_291insA; p.N97fs*43; 9:97308613-97308614

c.3492T>C; p.V1164V;

c.405A>G; p.R135R;

c.2966A>G; p.E989G;

c.494A>G; p.E165G;

c.1433C>T; p.A478V; 9:97279720-97279720

c.2886A>G; p.R962R;

c.2505A>G; p.E835E;

c.2772G>T; p.T924T;

c.3491T>C; p.V1164A;

c.3047T>C; p.L1016P;

c.523C>A; p.L175I;

c.3918C>A; p.P1306P;

c.2372T>C; p.I791T; 9:97269407-97269407

c.525C>A; p.L175L;

c.2082G>A; p.Q694Q;

c.1871A>G; p.Q624R;

c.1081C>T; p.Q361*; 9:97281237-97281237

c.3047T>C; p.L1016P;

c.1512A>G; p.P504P;

c.3583A>T; p.T1195S; 9:97251393-97251393

c.524T>C; p.L175P;

c.287A>G; p.K96R;

c.2309G>A; p.R770Q;

c.977G>C; p.G326A;

c.3492T>C; p.V1164V;

c.2208T>C; p.A736A;

c.1922C>A; p.P641H;

c.2447A>G; p.Q816R;

c.2839G>C; p.E947Q;

c.465T>C; p.P155P;

c.1450G>T; p.G484*;

c.403C>T; p.R135*; 9:97287969-97287969

c.2067C>A; p.P689P;

c.1776delT; p.P593fs*30;

c.2308C>T; p.R770*; 9:97269471-97269471

c.2315G>A; p.R772K;

c.3855G>T; p.Q1285H;

c.2081A>G; p.Q694R;

c.2015C>T; p.T672M;

c.1094A>G; p.Q365R;

c.405A>T; p.R135R;

c.1084A>G; p.T362A;

c.2864A>G; p.Y955C;

c.862G>T; p.G288C;

c.2039A>G; p.E680G;

c.2983A>G; p.R995G;

c.1068-2A>G; p.?;

c.1094A>T; p.Q365L;

c.3317C>T; p.T1106M;

c.2588G>T; p.W863L;

c.2010C>T; p.P670P;

c.477A>G; p.I159M;

c.475A>G; p.I159V;

c.2419A>G; p.T807A;

c.1108_1111delAAGC; p.K370fs*61;

c.3509_3538>GGA; p.L1170_P1180>WT; 9:97251955-97251984

c.1682T>G; p.M561R; 9:97278183-97278183

c.1645G>A; p.A549T;

c.3391G>A; p.V1131M;

c.2147_2148CC>TT; p.S716F;

c.3401T>A; p.L1134Q;

c.4249C>T; p.H1417Y;

c.1993C>T; p.R665C;

c.2209G>A; p.E737K;

c.4324C>T; p.R1442W;