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.675+1G>C; p.?; 22:29658265-29658265

c.1446+1G>T; p.?; 22:29674942-29674942

c.1446+1G>T; p.?; 22:29674942-29674942

c.454_455insTATGGTG; p.D152fs*3; 22:29654663-29654664

c.374A>G; p.Q125R; 22:29642212-29642212

c.572G>A; p.W191*; 22:29655649-29655649

c.675+1G>C; p.?; 22:29658265-29658265

c.114+1G>T; p.?; 22:29604113-29604113

c.1341-?_1446+?del; p.?; 22:29674836-29674941

c.332A>G; p.Q111R; 22:29639181-29639181

c.1446+3delGAGCCTGGGGGCCACCAGCTGGG; p.?; 22:29674944-29674966

c.1089delG; p.M363fs*12; 22:29671915-29671915

c.1340+1G>A; p.?; 22:29673487-29673487

c.332A>G; p.Q111R; 22:29639181-29639181

c.236A>G; p.K79R; 22:29636872-29636872

c.807delG; p.E270fs*26; 22:29661336-29661336

c.745_755del11; p.R249fs*8; 22:29661274-29661284

c.1340+1G>A; p.?; 22:29673487-29673487

c.1340+1G>A; p.?; 22:29673487-29673487

c.969_999del31; p.Q324fs*12; 22:29668416-29668446

c.815_822delCTATTAAA; p.I273fs*3; 22:29664994-29665001

c.1340+1G>A; p.?; 22:29673487-29673487

c.1341-?_1446+?del; p.?; 22:29674836-29674941

c.1340+1G>A; p.?; 22:29673487-29673487

c.1340+1G>A; p.?; 22:29673487-29673487

c.750delG; p.T251fs*45; 22:29661279-29661279

c.766delT; p.F256fs*40; 22:29661295-29661295

c.750delG; p.T251fs*45; 22:29661279-29661279

c.27_33delGAGCTTC; p.M9fs*14; 22:29604025-29604031

c.465_466delCA; p.S156fs*46; 22:29654674-29654675

c.740A>G; p.E247G; 22:29661269-29661269

c.1298C>T; p.A433V; 22:29673444-29673444

c.115-1G>T; p.?; 22:29636750-29636750

c.733_794>T; p.D245fs*31; 22:29661262-29661323

c.516+1G>C; p.?; 22:29654726-29654726

c.1013G>A; p.R338H; 22:29671839-29671839

c.241-2A>C; p.?; 22:29639088-29639088

c.468T>C; p.S156S; 22:29654677-29654677

c.1159A>G; p.K387E; 22:29673305-29673305

c.468T>C; p.S156S; 22:29654677-29654677

c.241-2A>C; p.?; 22:29639088-29639088

c.675+2delT; p.?; 22:29658266-29658266

c.1159A>G; p.K387E; 22:29673305-29673305

c.1377G>T; p.Q459H; 22:29674872-29674872

c.918A>G; p.L306L; 22:29668365-29668365

c.642_667del26; p.E215fs*4; 22:29658231-29658256

c.675+5G>A; p.?; 22:29658269-29658269

c.1052G>A; p.R351H; 22:29671878-29671878

c.918A>G; p.L306L; 22:29668365-29668365

c.396C>A; p.Y132*; 22:29642234-29642234

c.460G>T; p.D154Y; 22:29654669-29654669

c.1001_1004delTGGA; p.M334fs*11; 22:29671827-29671830

c.1638C>T; p.I546I; 22:29681502-29681502

c.1459delA; p.I487fs*28; 22:29678208-29678208

c.115_240del126; p.M39_K80del; 22:29636751-29636876

c.115_240del126; p.M39_K80del; 22:29636751-29636876

c.1001_1004delTGGA; p.M334fs*11; 22:29671827-29671830

c.1398A>G; p.R466R; 22:29674893-29674893

c.115_240del126; p.M39_K80del; 22:29636751-29636876

c.240+8T>G; p.?; 22:29636884-29636884

c.1000_1086del87; p.M334_Q362del; 22:29671826-29671912

c.1445delC; p.P482fs*3; 22:29674940-29674940

c.605A>C; p.E202A; 22:29658194-29658194

c.250_300del51; p.H84_F100del; 22:29639099-29639149

c.53_54insA; p.P19fs*30; 22:29604051-29604052

c.1579_1582delGAAT; p.E527fs*22; 22:29681443-29681446

c.906_907insG; p.N303fs*3; 22:29668353-29668354

c.1265_1265delA; p.E422fs*4; 22:29673411-29673411

c.1451_1452delTG; p.M484fs*10; 22:29678200-29678201

c.659_660delAC; p.N220fs*7; 22:29658248-29658249

c.632C>A; p.A211D; 22:29658221-29658221

c.780_781ins?; p.?fs; 22:29661309-29661310

c.1351G>A; p.A451T; 22:29674846-29674846

c.364-2delA; p.?; 22:29642200-29642200

c.153delC; p.R52fs*71; 22:29636789-29636789

c.632C>A; p.A211D; 22:29658221-29658221

c.41_42delTC; p.L14fs*34; 22:29604039-29604040

c.613_621del9; p.M205_Y207del; 22:29658202-29658210

c.1514_1515delTG; p.S506fs*7; 22:29678263-29678264

c.41_42delTC; p.L14fs*34; 22:29604039-29604040

c.129_169del41; p.K44fs*28; 22:29636765-29636805

c.233A>G; p.D78G; 22:29636869-29636869

c.472_473delCA; p.H158fs*44; 22:29654681-29654682

c.1408delC; p.Q470fs*15; 22:29674903-29674903

c.1777G>T; p.E593*; 22:29694791-29694791

c.1151T>A; p.L384*; 22:29673297-29673297

c.618_619delAT; p.Y207fs*20; 22:29658207-29658208

c.133_144del12; p.D45_D48del; 22:29636769-29636780

c.448_467del20; p.Y150fs*46; 22:29654657-29654676

c.1122+1G>A; p.?; 22:29671949-29671949

c.846C>T; p.V282V; 22:29665025-29665025

c.261A>G; p.S87S; 22:29639110-29639110

c.600-2insA; p.?; 22:29658187-29658188

c.385delG; p.E129fs*45; 22:29642223-29642223

c.364_447del84; p.V122_K149del; 22:29642202-29642285

c.573G>A; p.W191*; 22:29655650-29655650

c.364_447del84; p.V122_K149del; 22:29642202-29642285

c.364_447del84; p.V122_K149del; 22:29642202-29642285

c.364_447del84; p.V122_K149del; 22:29642202-29642285

c.364_447del84; p.V122_K149del; 22:29642202-29642285

c.427_436del10; p.Y144fs*27; 22:29642265-29642274

c.667delG; p.A223fs*28; 22:29658256-29658256

c.169C>T; p.R57*; 22:29636805-29636805

c.1198delC; p.Q400fs*26; 22:29673344-29673344

c.169C>T; p.R57*; 22:29636805-29636805

c.169C>T; p.R57*; 22:29636805-29636805

c.169C>T; p.R57*; 22:29636805-29636805

c.169C>T; p.R57*; 22:29636805-29636805

c.600-2A>G; p.?; 22:29658187-29658187

c.600-2A>G; p.?; 22:29658187-29658187

c.169C>T; p.R57*; 22:29636805-29636805

c.169C>T; p.R57*; 22:29636805-29636805

c.169C>T; p.R57*; 22:29636805-29636805

c.169C>T; p.R57*; 22:29636805-29636805

c.169C>T; p.R57*; 22:29636805-29636805

c.169C>T; p.R57*; 22:29636805-29636805

c.169C>T; p.R57*; 22:29636805-29636805

c.169C>T; p.R57*; 22:29636805-29636805

c.169C>T; p.R57*; 22:29636805-29636805

c.169C>T; p.R57*; 22:29636805-29636805

c.169C>T; p.R57*; 22:29636805-29636805

c.169C>T; p.R57*; 22:29636805-29636805

c.169C>T; p.R57*; 22:29636805-29636805

c.169C>T; p.R57*; 22:29636805-29636805

c.169C>T; p.R57*; 22:29636805-29636805

c.1198delC; p.Q400fs*26; 22:29673344-29673344

c.811-2A>T; p.?; 22:29664988-29664988

c.169C>T; p.R57*; 22:29636805-29636805

c.169C>T; p.R57*; 22:29636805-29636805

c.88_109del22; p.D30fs*3; 22:29604086-29604107

c.600-2A>G; p.?; 22:29658187-29658187

c.169C>T; p.R57*; 22:29636805-29636805

c.169C>T; p.R57*; 22:29636805-29636805

c.169C>T; p.R57*; 22:29636805-29636805

c.744_754del11; p.R249fs*8; 22:29661273-29661283

c.31delT; p.F11fs*14; 22:29604029-29604029

c.169C>T; p.R57*; 22:29636805-29636805

c.600-2A>G; p.?; 22:29658187-29658187

c.169C>T; p.R57*; 22:29636805-29636805

c.169C>T; p.R57*; 22:29636805-29636805

c.169C>T; p.R57*; 22:29636805-29636805

c.955delC; p.Q319fs*3; 22:29668402-29668402

c.346_347delCA; p.H116fs*13; 22:29639195-29639196

c.1391C>T; p.A464V; 22:29674886-29674886

c.676-11delTG; p.?; 22:29661194-29661195

c.689C>T; p.T230I; 22:29661218-29661218

c.48_86del39; p.K17_M29del13; 22:29604046-29604084

c.610delG; p.E204fs*5; 22:29658199-29658199

c.785_786insG; p.N263fs*6; 22:29661314-29661315

c.430_431insA; p.Y144fs*1; 22:29642268-29642269

c.1254delC; p.T419fs*7; 22:29673400-29673400

c.1357delC; p.Q453fs*2; 22:29674852-29674852

c.430_431insA; p.Y144fs*1; 22:29642268-29642269

c.1357delC; p.Q453fs*2; 22:29674852-29674852

c.493_494insT; p.Q165fs*38; 22:29654702-29654703

c.430_431insA; p.Y144fs*1; 22:29642268-29642269

c.430_431insA; p.Y144fs*1; 22:29642268-29642269

c.430_431insA; p.Y144fs*1; 22:29642268-29642269

c.445_447+9delAAGGTAGGCTCA; p.?; 22:29642283-29642294

c.676_726del51; p.?; 22:29661195-29661255

c.355_359delTTCTT; p.F119fs*9; 22:29639204-29639208

c.563_564delTT; p.I188fs*14; 22:29655640-29655641

c.1123_1265del143; p.M375fs*20; 22:29673269-29673411

c.813delT; p.F271fs*25; 22:29664992-29664992

c.38_58del21; p.S13_K20>*; 22:29604036-29604056

c.675+1G>T; p.?; 22:29658265-29658265

c.363+1G>C; p.?; 22:29639213-29639213

c.224delT; p.L75fs*48; 22:29636860-29636860

c.732delT; p.Y244fs*1; 22:29661261-29661261

c.863C>G; p.S288*; 22:29665042-29665042

c.1574+2_1574+14del; p.?; 22:29678325-29678337

c.675+1G>T; p.?; 22:29658265-29658265

c.257delT; p.S87fs*36; 22:29639106-29639106

c.675+1G>T; p.?; 22:29658265-29658265

c.675+1G>T; p.?; 22:29658265-29658265

c.863C>G; p.S288*; 22:29665042-29665042

c.347delA; p.H116fs*7; 22:29639196-29639196

c.863C>G; p.S288*; 22:29665042-29665042

c.227_240del14; p.K76fs*5; 22:29636863-29636876

c.768delC; p.P257fs*39; 22:29661297-29661297

c.94G>T; p.E32*; 22:29604092-29604092

c.886_999del114; p.I296_Q333del; 22:29668333-29668446

c.905_912delGGAACCAT; p.N303fs*26; 22:29668352-29668359

c.1474_1478delCCTCC; p.P492fs*1; 22:29678223-29678227

c.517_519delGTA; p.?; 22:29655593-29655596

c.128_131delGGAA; p.K44fs*78; 22:29636764-29636767

c.265delG; p.E89fs*34; 22:29639114-29639114

c.128_131delGGAA; p.K44fs*78; 22:29636764-29636767

c.1474_1478delCCTCC; p.P492fs*1; 22:29678223-29678227

c.501A>T; p.E167D; 22:29654710-29654710

c.1342delG; p.A448fs*7; 22:29674837-29674837

c.810G>T; p.E270D; 22:29661339-29661339

c.1217_1218delAG; p.E406fs*36; 22:29673363-29673364

c.115-1G>A; p.?; 22:29636750-29636750

c.810G>T; p.E270D; 22:29661339-29661339

c.1217_1218delAG; p.E406fs*36; 22:29673363-29673364

c.115-1G>A; p.?; 22:29636750-29636750

c.481G>T; p.G161*; 22:29654690-29654690

c.1223_1236del14; p.M409fs*29; 22:29673369-29673382

c.1446G>A; p.P482P; 22:29674941-29674941

c.154_175del22; p.R52fs*64; 22:29636790-29636811

c.1228C>T; p.Q410*; 22:29673374-29673374

c.621T>C; p.Y207Y; 22:29658210-29658210

c.448-1G>T; p.?; 22:29654656-29654656

c.1228C>T; p.Q410*; 22:29673374-29673374

c.89_99del11; p.D30fs*15; 22:29604087-29604097

c.1228C>T; p.Q410*; 22:29673374-29673374

c.1228C>T; p.Q410*; 22:29673374-29673374

c.1228C>T; p.Q410*; 22:29673374-29673374

c.1228C>T; p.Q410*; 22:29673374-29673374

c.1228C>T; p.Q410*; 22:29673374-29673374

c.26T>C; p.M9T; 22:29604024-29604024

c.1228C>T; p.Q410*; 22:29673374-29673374

c.1228C>T; p.Q410*; 22:29673374-29673374

c.1228C>T; p.Q410*; 22:29673374-29673374

c.448-1G>T; p.?; 22:29654656-29654656

c.1378G>T; p.E460*; 22:29674873-29674873

c.89_99del11; p.D30fs*15; 22:29604087-29604097

c.493_512del20; p.Q165fs*31; 22:29654702-29654721

c.209delA; p.D70fs*53; 22:29636845-29636845

c.1270C>T; p.R424C; 22:29673416-29673416

c.653delG; p.G218fs*2; 22:29658242-29658242

c.675+1delGTG; p.?; 22:29658265-29658267

c.675+1delGTG; p.?; 22:29658265-29658267

c.241-15delTCTGCAATTCTGC; p.?; 22:29639075-29639087

c.1439_1445CGTACCC>20; p.Y481fs*18; 22:29674934-29674940

c.173delA; p.T59fs*64; 22:29636809-29636809

c.675+1delGTG; p.?; 22:29658265-29658267

c.675+1delGTG; p.?; 22:29658265-29658267

c.364-1G>A; p.?; 22:29642201-29642201

c.675+1delGTG; p.?; 22:29658265-29658267

c.173delA; p.T59fs*64; 22:29636809-29636809

c.675+1delGTG; p.?; 22:29658265-29658267

c.675+1delGTG; p.?; 22:29658265-29658267

c.600-3C>G; p.?; 22:29658186-29658186

c.841_841delG; p.D281fs*15; 22:29665020-29665020

c.756_757insC; p.K253fs*8; 22:29661285-29661286

c.1282C>T; p.Q428*; 22:29673428-29673428

c.1012C>T; p.R338C; 22:29671838-29671838

c.1282C>T; p.Q428*; 22:29673428-29673428

c.271delC; p.P91fs*32; 22:29639120-29639120

c.206_206delA; p.K69fs*54; 22:29636842-29636842

c.629_630insT; p.A211fs*17; 22:29658218-29658219

c.241-2A>G; p.?; 22:29639088-29639088

c.284delA; p.H95fs*28; 22:29639133-29639133

c.241-2A>G; p.?; 22:29639088-29639088

c.10G>A; p.A4T; 22:29604008-29604008

c.138_139delCT; p.F47fs*1; 22:29636774-29636775

c.69_70insT; p.V24fs*25; 22:29604067-29604068

c.1600delC; p.H534fs*16; 22:29681464-29681464

c.673_675delCGG; p.?; 22:29658262-29658275

c.249delT; p.H84fs*39; 22:29639098-29639098

c.743_743delA; p.N248fs*3; 22:29661272-29661272

c.241-9A>G; p.?; 22:29639081-29639081

c.578_579insA; p.E194fs*9; 22:29655655-29655656

c.551G>A; p.W184*; 22:29655628-29655628

c.1059_1060delGG; p.D354fs*1; 22:29671885-29671886

c.1174G>T; p.E392*; 22:29673320-29673320

c.241-9A>G; p.?; 22:29639081-29639081

c.743_743delA; p.N248fs*3; 22:29661272-29661272

c.41T>G; p.L14R; 22:29604039-29604039

c.1469delC; p.P490fs*25; 22:29678218-29678218

c.1408C>T; p.Q470*; 22:29674903-29674903

c.851_852insT; p.K284fs*3; 22:29665030-29665031

c.866A>G; p.K289R; 22:29665045-29665045

c.1469delC; p.P490fs*25; 22:29678218-29678218

c.1408C>T; p.Q470*; 22:29674903-29674903

c.457T>C; p.Y153H; 22:29654666-29654666

c.866A>G; p.K289R; 22:29665045-29665045

c.121T>C; p.W41R; 22:29636757-29636757

c.1023_1044del22; p.E342fs*15; 22:29671849-29671870

c.1408C>T; p.Q470*; 22:29674903-29674903

c.1396C>T; p.R466*; 22:29674891-29674891

c.1571_1574delAAAA; p.K525fs*24; 22:29678320-29678323

c.1396C>T; p.R466*; 22:29674891-29674891

c.1396C>T; p.R466*; 22:29674891-29674891

c.115-1G>C; p.?; 22:29636750-29636750

c.562_565delATTA; p.I188fs*20; 22:29655639-29655642

c.202_219del18; p.I68_A73delIKDTVA; 22:29636838-29636855

c.241-22delCTTTTGCTCT; p.?; 22:29639068-29639077

c.1396C>T; p.R466*; 22:29674891-29674891

c.424_431delGCTTCTTA; p.A142fs*8; 22:29642262-29642269

c.107A>G; p.N36S; 22:29604105-29604105

c.1396C>T; p.R466*; 22:29674891-29674891

c.1570delG; p.E524fs*26; 22:29678319-29678319

c.1332_1335delAGAG; p.E445fs*9; 22:29673478-29673481

c.1396C>T; p.R466*; 22:29674891-29674891

c.324delG; p.E108fs*15; 22:29639173-29639173

c.977_980delGGGA; p.E327fs*18; 22:29668424-29668427

c.1400G>A; p.R467K; 22:29674895-29674895

c.141delT; p.F47fs*76; 22:29636777-29636777

c.233_233A>?; p.?fs; 22:29636869-29636869

c.541delC; p.P181fs*28; 22:29655618-29655618

c.645G>C; p.E215D; 22:29658234-29658234

c.1614delG; p.Q538fs*12; 22:29681478-29681478

c.138C>A; p.L46L; 22:29636774-29636774

c.138C>A; p.L46L; 22:29636774-29636774

c.1614delG; p.Q538fs*12; 22:29681478-29681478

c.655G>A; p.V219M; 22:29658244-29658244

c.1347A>G; p.K449K; 22:29674842-29674842

c.655G>A; p.V219M; 22:29658244-29658244

c.531T>A; p.Y177*; 22:29655608-29655608

c.154delC; p.R52fs*71; 22:29636790-29636790

c.1327_1340del14; p.?; 22:29673473-29673488

c.655G>A; p.V219M; 22:29658244-29658244

c.655G>A; p.V219M; 22:29658244-29658244

c.892C>T; p.Q298*; 22:29668339-29668339

c.459delC; p.Y153fs*1; 22:29654668-29654668

c.234delC; p.D78fs*45; 22:29636870-29636870

c.773G>A; p.W258*; 22:29661302-29661302

c.122G>A; p.W41*; 22:29636758-29636758

c.459delC; p.Y153fs*1; 22:29654668-29654668

c.459delC; p.Y153fs*1; 22:29654668-29654668

c.122G>A; p.W41*; 22:29636758-29636758

c.773G>A; p.W258*; 22:29661302-29661302

c.430_431insGA; p.Y144fs*1; 22:29642268-29642269

c.993delA; p.K332fs*14; 22:29668440-29668440

c.723_724insA; p.H242fs*4; 22:29661252-29661253

c.260C>G; p.S87*; 22:29639109-29639109

c.1121_1122delTG; p.?; 22:29671947-29671953

c.865A>T; p.K289*; 22:29665044-29665044

c.377delT; p.L127fs*1; 22:29642215-29642215

c.279C>A; p.T93T; 22:29639128-29639128

c.1341-1G>A; p.?; 22:29674835-29674835

c.377delT; p.L127fs*1; 22:29642215-29642215

c.865A>T; p.K289*; 22:29665044-29665044

c.662A>G; p.Y221C; 22:29658251-29658251

c.303T>A; p.Y101*; 22:29639152-29639152

c.809delA; p.E270fs*26; 22:29661338-29661338

c.729_732delTTAT; p.I243fs*7; 22:29661258-29661261

c.303T>A; p.Y101*; 22:29639152-29639152

c.1390delG; p.A464fs*21; 22:29674885-29674885

c.335_339delAGATC; p.E112fs*16; 22:29639184-29639188

c.809delA; p.E270fs*26; 22:29661338-29661338

c.1165_1165delC; p.Q389fs*37; 22:29673311-29673311

c.175A>G; p.T59A; 22:29636811-29636811

c.1531_1563>AATAC; p.D511fs*30; 22:29678280-29678312

c.689delC; p.T230fs*21; 22:29661218-29661218

c.1578_1581delGGAA; p.E527fs*22; 22:29681442-29681445

c.1101_1102delAA; p.T368fs*10; 22:29671927-29671928

c.436G>A; p.V146I; 22:29642274-29642274

c.1191delT; p.L398fs*28; 22:29673337-29673337

c.436G>A; p.V146I; 22:29642274-29642274

c.1238delA; p.K413fs*13; 22:29673384-29673384

c.810G>A; p.E270E; 22:29661339-29661339

c.436G>A; p.V146I; 22:29642274-29642274

c.810G>A; p.E270E; 22:29661339-29661339

c.640delC; p.L214fs*6; 22:29658229-29658229

c.674G>A; p.R225Q; 22:29658263-29658263

c.968C>T; p.A323V; 22:29668415-29668415

c.1090_1108del19; p.K364fs*5; 22:29671916-29671934

c.1022_1023insCTCG; p.E342fs*10; 22:29671848-29671849

c.447delG; p.K149fs*25; 22:29642285-29642285

c.1050delA; p.E350fs*14; 22:29671876-29671876

c.808G>T; p.E270*; 22:29661337-29661337

c.432C>G; p.Y144*; 22:29642270-29642270

c.1264delG; p.E422fs*4; 22:29673410-29673410

c.304delC; p.P102fs*21; 22:29639153-29639153

c.220T>C; p.W74R; 22:29636856-29636856

c.971A>G; p.Q324R; 22:29668418-29668418

c.286_298del13; p.L97fs*22; 22:29639135-29639147

c.971A>G; p.Q324R; 22:29668418-29668418

c.971A>G; p.Q324R; 22:29668418-29668418

c.601delG; p.D201fs*8; 22:29658190-29658190

c.1198C>T; p.Q400*; 22:29673344-29673344

c.1198C>T; p.Q400*; 22:29673344-29673344

c.220T>C; p.W74R; 22:29636856-29636856

c.1198C>T; p.Q400*; 22:29673344-29673344

c.1198C>T; p.Q400*; 22:29673344-29673344

c.971A>G; p.Q324R; 22:29668418-29668418

c.1198C>T; p.Q400*; 22:29673344-29673344

c.866delA; p.K289fs*7; 22:29665045-29665045

c.1575-1G>C; p.?; 22:29681438-29681438

c.1616T>A; p.L539H; 22:29681480-29681480

c.1198C>T; p.Q400*; 22:29673344-29673344

c.1198C>T; p.Q400*; 22:29673344-29673344

c.363+5A>G; p.?; 22:29639217-29639217

c.810+1G>A; p.?; 22:29661340-29661340

c.810+1G>A; p.?; 22:29661340-29661340

c.466A>G; p.S156G; 22:29654675-29654675

c.1175A>G; p.E392G; 22:29673321-29673321

c.466A>G; p.S156G; 22:29654675-29654675

c.1520_1521insT; p.D508fs*6; 22:29678269-29678270

c.53_54AA>T; p.Q18fs*7; 22:29604051-29604052

c.1390_1391insC; p.E465fs*30; 22:29674885-29674886

c.810+1G>A; p.?; 22:29661340-29661340

c.810+1G>A; p.?; 22:29661340-29661340

c.126delA; p.K44fs*79; 22:29636762-29636762

c.1009C>T; p.Q337*; 22:29671835-29671835

c.1463C>T; p.P488L; 22:29678212-29678212

c.294_294delC; p.K99fs*24; 22:29639143-29639143

c.1009C>T; p.Q337*; 22:29671835-29671835

c.1009C>T; p.Q337*; 22:29671835-29671835

c.1009C>T; p.Q337*; 22:29671835-29671835

c.402T>C; p.P134P; 22:29642240-29642240

c.130A>T; p.K44*; 22:29636766-29636766

c.1009C>T; p.Q337*; 22:29671835-29671835

c.531T>C; p.Y177Y; 22:29655608-29655608

c.1001_1079del79; p.M334fs*4; 22:29671827-29671905

c.811_885del75; p.F271_L295del; 22:29664990-29665064

c.516+1G>A; p.?; 22:29654726-29654726

c.467G>A; p.S156N; 22:29654676-29654676

c.871C>T; p.R291C; 22:29665050-29665050

c.516+1G>A; p.?; 22:29654726-29654726

c.45delG; p.R16fs*9; 22:29604043-29604043

c.515delG; p.V173fs*1; 22:29654724-29654724

c.1122+2T>A; p.?; 22:29671950-29671950

c.823delC; p.P275fs*21; 22:29665002-29665002

c.531T>C; p.Y177Y; 22:29655608-29655608

c.516+1G>A; p.?; 22:29654726-29654726

c.516+1G>A; p.?; 22:29654726-29654726

c.531T>C; p.Y177Y; 22:29655608-29655608

c.823delC; p.P275fs*21; 22:29665002-29665002

c.239A>G; p.K80R; 22:29636875-29636875

c.694_771del78; p.L232_P257del; 22:29661223-29661300

c.785G>A; p.R262Q; 22:29661314-29661314

c.656T>C; p.V219A; 22:29658245-29658245

c.936delA; p.A313fs*9; 22:29668383-29668383

c.656T>C; p.V219A; 22:29658245-29658245

c.691G>T; p.E231*; 22:29661220-29661220

c.683delA; p.K228fs*23; 22:29661212-29661212

c.656T>C; p.V219A; 22:29658245-29658245

c.656T>C; p.V219A; 22:29658245-29658245

c.194A>G; p.Q65R; 22:29636830-29636830

c.401C>A; p.P134H; 22:29642239-29642239

c.785G>A; p.R262Q; 22:29661314-29661314

c.1636delA; p.I546fs*4; 22:29681500-29681500

c.592_593delCG; p.R198fs*4; 22:29655669-29655670

c.593G>A; p.R198Q; 22:29655670-29655670

c.1027delA; p.K343fs*3; 22:29671853-29671853

c.447G>T; p.K149N; 22:29642285-29642285

c.1099_1105delGCAACAA; p.A367fs*6; 22:29671925-29671931

c.240+2T>C; p.?; 22:29636878-29636878

c.366_386del21; p.K123_E129del; 22:29642204-29642224

c.240+2T>C; p.?; 22:29636878-29636878

c.40_41insT; p.K15fs*34; 22:29604038-29604039

c.730_731insT; p.Y244fs*2; 22:29661259-29661260

c.240+2T>C; p.?; 22:29636878-29636878

c.170G>A; p.R57Q; 22:29636806-29636806

c.556G>T; p.E186*; 22:29655633-29655633

c.1051C>T; p.R351C; 22:29671877-29671877

c.636_637delGG; p.D213fs*14; 22:29658225-29658226

c.1409A>T; p.Q470L; 22:29674904-29674904

c.316G>T; p.E106*; 22:29639165-29639165

c.1000-7C>G; p.?; 22:29671819-29671819

c.810+2T>C; p.?; 22:29661341-29661341

c.305delC; p.P102fs*21; 22:29639154-29639154

c.810+2T>C; p.?; 22:29661341-29661341

c.810+2T>C; p.?; 22:29661341-29661341

c.305delC; p.P102fs*21; 22:29639154-29639154

c.1341-2A>G; p.?; 22:29674834-29674834

c.439delC; p.Q147fs*27; 22:29642277-29642277

c.1443C>G; p.Y481*; 22:29674938-29674938

c.1443C>G; p.Y481*; 22:29674938-29674938

c.1341-2A>G; p.?; 22:29674834-29674834

c.115-3C>G; p.?; 22:29636748-29636748

c.115-3C>G; p.?; 22:29636748-29636748

c.115-3C>G; p.?; 22:29636748-29636748

c.810+2T>C; p.?; 22:29661341-29661341

c.331C>T; p.Q111*; 22:29639180-29639180

c.436_443delGTCCAGGC; p.V146fs*4; 22:29642274-29642281

c.465_474del10; p.V157fs*14; 22:29654674-29654683

c.1092_1095delAGAA; p.E365fs*9; 22:29671918-29671921

c.331C>T; p.Q111*; 22:29639180-29639180

c.259T>C; p.S87P; 22:29639108-29639108

c.240+22delA; p.?; 22:29636898-29636898

c.318A>G; p.E106E; 22:29639167-29639167

c.318A>G; p.E106E; 22:29639167-29639167

c.675+1G>A; p.?; 22:29658265-29658265

c.1574delA; p.V526fs*24; 22:29678323-29678323

c.318A>G; p.E106E; 22:29639167-29639167

c.675+1G>A; p.?; 22:29658265-29658265

c.675+8delG; p.?; 22:29658272-29658272

c.318A>G; p.E106E; 22:29639167-29639167

c.318A>G; p.E106E; 22:29639167-29639167

c.663C>G; p.Y221*; 22:29658252-29658252

c.1148_1182del35; p.L383fs*12; 22:29673294-29673328

c.1331C>G; p.S444*; 22:29673477-29673477

c.681_690del10; p.K228fs*20; 22:29661210-29661219

c.137T>G; p.L46R; 22:29636773-29636773

c.398G>A; p.C133Y; 22:29642236-29642236

c.137T>G; p.L46R; 22:29636773-29636773

c.1389_1408del20; p.A464fs*24; 22:29674884-29674903

c.932delG; p.A313fs*9; 22:29668379-29668379

c.885+1G>T; p.?; 22:29665065-29665065

c.813_816delTACT; p.F271fs*24; 22:29664992-29664995

c.885+1G>T; p.?; 22:29665065-29665065

c.1184C>T; p.A395V; 22:29673330-29673330

c.1185delA; p.K396fs*30; 22:29673331-29673331

c.600-2A>C; p.?; 22:29658187-29658187

c.288_290delCTT; p.F96del; 22:29639137-29639139

c.650_651insA; p.Y217fs*1; 22:29658239-29658240

c.600-2A>C; p.?; 22:29658187-29658187

c.309_315delGAATGCT; p.N104fs*17; 22:29639158-29639164

c.1185delA; p.K396fs*30; 22:29673331-29673331

c.288_290delCTT; p.F96del; 22:29639137-29639139

c.491delC; p.Q165fs*9; 22:29654700-29654700

c.1-31delGC; p.?; 22:29603968-29603969

c.1022_1031del10; p.E342fs*1; 22:29671848-29671857

c.496_497delGA; p.E166fs*36; 22:29654705-29654706

c.1357C>T; p.Q453*; 22:29674852-29674852

c.182_183delTC; p.F62fs*23; 22:29636818-29636819

c.1746G>A; p.L582L; 22:29694760-29694760

c.182_183delTC; p.F62fs*23; 22:29636818-29636819

c.1357C>T; p.Q453*; 22:29674852-29674852

c.1375C>T; p.Q459*; 22:29674870-29674870

c.1375C>T; p.Q459*; 22:29674870-29674870

c.1113C>T; p.N371N; 22:29671939-29671939

c.1113C>T; p.N371N; 22:29671939-29671939

c.123_124insA; p.G43fs*6; 22:29636759-29636760

c.531T>G; p.Y177*; 22:29655608-29655608

c.1375C>T; p.Q459*; 22:29674870-29674870

c.1040delA; p.E347fs*17; 22:29671866-29671866

c.1352delC; p.A451fs*4; 22:29674847-29674847

c.784C>T; p.R262*; 22:29661313-29661313

c.784C>T; p.R262*; 22:29661313-29661313

c.165delG; p.L56fs*67; 22:29636801-29636801

c.784C>T; p.R262*; 22:29661313-29661313

c.784C>T; p.R262*; 22:29661313-29661313

c.784C>T; p.R262*; 22:29661313-29661313

c.295_307del13; p.K99fs*20; 22:29639144-29639156

c.784C>T; p.R262*; 22:29661313-29661313

c.784C>T; p.R262*; 22:29661313-29661313

c.784C>T; p.R262*; 22:29661313-29661313

c.784C>T; p.R262*; 22:29661313-29661313

c.784C>T; p.R262*; 22:29661313-29661313

c.1575-1G>C; p.?; 22:29681438-29681438

c.784C>T; p.R262*; 22:29661313-29661313

c.784C>T; p.R262*; 22:29661313-29661313

c.1519_1528del10; p.F507fs*5; 22:29678268-29678277

c.123G>C; p.W41C; 22:29636759-29636759

c.784C>T; p.R262*; 22:29661313-29661313

c.784C>T; p.R262*; 22:29661313-29661313

c.1065_1066delGT; p.E355fs*23; 22:29671891-29671892

c.488_489insT; p.L163fs*40; 22:29654697-29654698

c.168_207del40; p.R57fs*53; 22:29636804-29636843

c.676-1G>C; p.?; 22:29661204-29661204

c.840_841>A; p.D281fs*15; 22:29665019-29665020

c.956A>G; p.Q319R; 22:29668403-29668403

c.1199delA; p.Q400fs*26; 22:29673345-29673345

c.634C>T; p.Q212*; 22:29658223-29658223

c.634C>T; p.Q212*; 22:29658223-29658223

c.634C>T; p.Q212*; 22:29658223-29658223

c.289delT; p.L97fs*26; 22:29639138-29639138

c.634C>T; p.Q212*; 22:29658223-29658223

c.634C>T; p.Q212*; 22:29658223-29658223

c.634C>T; p.Q212*; 22:29658223-29658223

c.634C>T; p.Q212*; 22:29658223-29658223

c.487_488ins19; p.L163fs*46; 22:29654696-29654697

c.634C>T; p.Q212*; 22:29658223-29658223

c.634C>T; p.Q212*; 22:29658223-29658223

c.634C>T; p.Q212*; 22:29658223-29658223

c.1091A>T; p.K364I; 22:29671917-29671917

c.510delA; p.R172fs*2; 22:29654719-29654719

c.1124delT; p.M375fs*51; 22:29673270-29673270

c.364-8_408del53; p.?; 22:29642202-29642246

c.510delA; p.R172fs*2; 22:29654719-29654719

c.510delA; p.R172fs*2; 22:29654719-29654719

c.739G>A; p.E247K; 22:29661268-29661268

c.942delT; p.S315fs*7; 22:29668389-29668389

c.309G>C; p.E103D; 22:29639158-29639158

c.792_796delCTCGT; p.S265fs*2; 22:29661321-29661325

c.232_233insG; p.D78fs*8; 22:29636868-29636869

c.589G>T; p.G197C; 22:29655666-29655666

c.1438delA; p.T480fs*5; 22:29674933-29674933

c.1207G>A; p.A403T; 22:29673353-29673353

c.849delC; p.F283fs*13; 22:29665028-29665028

c.1258G>T; p.E420*; 22:29673404-29673404

c.1445C>T; p.P482L; 22:29674940-29674940

c.1058delG; p.D354fs*10; 22:29671884-29671884

c.620A>G; p.Y207C; 22:29658209-29658209

c.963_964insA; p.A323fs*9; 22:29668410-29668411

c.1088delT; p.M363fs*12; 22:29671914-29671914

c.661delT; p.Y221fs*30; 22:29658250-29658250

c.620A>G; p.Y207C; 22:29658209-29658209

c.1188_1191delACTT; p.K396fs*29; 22:29673334-29673337

c.1575-26_1525-5del22; p.?; 22:29681413-29681434

c.958C>T; p.Q320*; 22:29668405-29668405

c.153_165del13; p.R52fs*67; 22:29636789-29636801

c.737C>T; p.P246L; 22:29661266-29661266

c.1230_1243del14; p.Q410fs*28; 22:29673376-29673389

c.447+2T>G; p.?; 22:29642287-29642287

c.971A>T; p.Q324L; 22:29668418-29668418

c.363+2T>G; p.?; 22:29639214-29639214

c.576C>G; p.Y192*; 22:29655653-29655653

c.1575_1582delAGTGGAAT; p.?; 22:29681413-29681446

c.493delC; p.Q165fs*9; 22:29654702-29654702

c.576C>G; p.Y192*; 22:29655653-29655653

c.703G>T; p.G235*; 22:29661232-29661232

c.493delC; p.Q165fs*9; 22:29654702-29654702

c.493delC; p.Q165fs*9; 22:29654702-29654702

c.493delC; p.Q165fs*9; 22:29654702-29654702

c.576C>G; p.Y192*; 22:29655653-29655653

c.264delG; p.E89fs*34; 22:29639113-29639113

c.981_999del19; p.?; 22:29668428-29668463

c.302_304delATC; p.Y101_P102>S; 22:29639151-29639153

c.596_597ins13; p.R200fs*7; 22:29655673-29655674

c.1322delC; p.A441fs*14; 22:29673468-29673468

c.618_669del52; p.Y207fs*27; 22:29658207-29658258

c.1160A>G; p.K387R; 22:29673306-29673306

c.599+1G>C; p.?; 22:29655677-29655677

c.794C>A; p.S265*; 22:29661323-29661323

c.1149_1150delGT; p.L384fs*2; 22:29673295-29673296

c.1219C>T; p.Q407*; 22:29673365-29673365

c.676-22delGCTGTTCTTATTGG; p.?; 22:29661183-29661196

c.1219C>T; p.Q407*; 22:29673365-29673365

c.429_432delTTAC; p.Y144fs*29; 22:29642267-29642270

c.817A>T; p.I273F; 22:29664996-29664996

c.1219C>T; p.Q407*; 22:29673365-29673365

c.1219C>T; p.Q407*; 22:29673365-29673365

c.1112A>G; p.N371S; 22:29671938-29671938

c.892delC; p.Q298fs*11; 22:29668339-29668339

c.1252C>T; p.R418C; 22:29673398-29673398

c.1114G>A; p.E372K; 22:29671940-29671940

c.193C>T; p.Q65*; 22:29636829-29636829

c.1252C>T; p.R418C; 22:29673398-29673398

c.500_501delAA; p.E167fs*35; 22:29654709-29654710

c.587G>A; p.R196Q; 22:29655664-29655664

c.1637delT; p.I546fs*4; 22:29681501-29681501

c.99delG; p.E34fs*6; 22:29604097-29604097

c.838_842delATTGA; p.I280fs*5; 22:29665017-29665021

c.57C>G; p.P19P; 22:29604055-29604055

c.616delG; p.E206fs*3; 22:29658205-29658205

c.1277delT; p.M426fs*13; 22:29673423-29673423

c.616delG; p.E206fs*3; 22:29658205-29658205

c.634_657>A; p.Q212fs*8; 22:29658223-29658246

c.282_283delTC; p.F94fs*9; 22:29639131-29639132

c.189A>G; p.G63G; 22:29636825-29636825

c.516+1delG; p.?; 22:29654726-29654726

c.189A>G; p.G63G; 22:29636825-29636825

c.1165C>T; p.Q389*; 22:29673311-29673311

c.349T>A; p.L117I; 22:29639198-29639198

c.893A>G; p.Q298R; 22:29668340-29668340

c.241_242delGT; p.V81fs*4; 22:29639090-29639091

c.893A>G; p.Q298R; 22:29668340-29668340

c.115-1G>C; p.?; 22:29636750-29636750

c.70_84del15; p.V24_T28del; 22:29604068-29604082

c.908delA; p.N303fs*6; 22:29668355-29668355

c.1084C>T; p.Q362*; 22:29671910-29671910

c.453_465del13; p.D152fs*18; 22:29654662-29654674

c.453_465del13; p.D152fs*18; 22:29654662-29654674

c.1084C>T; p.Q362*; 22:29671910-29671910

c.171_216del46; p.E58fs*50; 22:29636807-29636852

c.68_69delCC; p.T23fs*25; 22:29604066-29604067

c.1223_1227delAAATG; p.E408fs*33; 22:29673369-29673373

c.1084C>T; p.Q362*; 22:29671910-29671910

c.1084C>T; p.Q362*; 22:29671910-29671910

c.643_656del14; p.M216fs*7; 22:29658232-29658245

c.1366C>T; p.Q456*; 22:29674861-29674861

c.501A>G; p.E167E; 22:29654710-29654710

c.1003_1012del10; p.E335fs*8; 22:29671829-29671838

c.459C>G; p.Y153*; 22:29654668-29654668

c.501A>G; p.E167E; 22:29654710-29654710

c.459C>G; p.Y153*; 22:29654668-29654668

c.459C>G; p.Y153*; 22:29654668-29654668

c.235A>G; p.K79E; 22:29636871-29636871

c.1366C>T; p.Q456*; 22:29674861-29674861

c.713delC; p.L239fs*12; 22:29661242-29661242

c.1366C>T; p.Q456*; 22:29674861-29674861

c.235A>G; p.K79E; 22:29636871-29636871

c.174_197del24; p.E58_Y66>D; 22:29636810-29636833

c.241-9delATTCTGCA; p.?; 22:29639081-29639088

c.428_438del11; p.Y144fs*5; 22:29642266-29642276

c.1575_1737del163; p.K525fs*18; 22:29681439-29681601

c.386A>G; p.E129G; 22:29642224-29642224

c.488delT; p.L163fs*11; 22:29654697-29654697

c.260C>A; p.S87*; 22:29639109-29639109

c.610_626del17; p.E204fs*18; 22:29658199-29658215

c.62delC; p.T21fs*4; 22:29604060-29604060

c.949G>T; p.E317*; 22:29668396-29668396

c.447+1G>A; p.?; 22:29642286-29642286

c.478delC; p.R160fs*14; 22:29654687-29654687

c.447+1G>A; p.?; 22:29642286-29642286

c.1470G>A; p.P490P; 22:29678219-29678219

c.1376_1409>CG; p.Q459fs*25; 22:29674871-29674904

c.1625T>A; p.L542H; 22:29681489-29681489

c.600-1G>T; p.?; 22:29658188-29658188

c.245_251delTGGATCA; p.D83fs*38; 22:29639094-29639100

c.1069G>T; p.E357*; 22:29671895-29671895

c.933delG; p.A313fs*9; 22:29668380-29668380

c.1069G>T; p.E357*; 22:29671895-29671895

c.37_88del52; p.S13fs*10; 22:29604035-29604086

c.600-1G>A; p.?; 22:29658188-29658188

c.114+1G>A; p.?; 22:29604113-29604113

c.600-1G>A; p.?; 22:29658188-29658188

c.296A>C; p.K99T; 22:29639145-29639145

c.1039_1042delGAGG; p.E347fs*16; 22:29671865-29671868

c.600-1G>A; p.?; 22:29658188-29658188

c.1167G>T; p.Q389H; 22:29673313-29673313

c.621T>G; p.Y207*; 22:29658210-29658210

c.816T>A; p.T272T; 22:29664995-29664995

c.401_401delC; p.P134fs*40; 22:29642239-29642239

c.1459A>G; p.I487V; 22:29678208-29678208

c.663C>T; p.Y221Y; 22:29658252-29658252

c.459C>A; p.Y153*; 22:29654668-29654668

c.616G>T; p.E206*; 22:29658205-29658205

c.212delC; p.T71fs*52; 22:29636848-29636848

c.517-1G>A; p.?; 22:29655593-29655593

c.591C>T; p.G197G; 22:29655668-29655668

c.1592_1592delA; p.K531fs*19; 22:29681456-29681456

c.1345A>T; p.K449*; 22:29674840-29674840

c.517-1G>A; p.?; 22:29655593-29655593

c.1275G>C; p.L425L; 22:29673421-29673421

c.1373delT; p.L458fs*27; 22:29674868-29674868

c.1574+1G>A; p.?; 22:29678324-29678324

c.839T>C; p.I280T; 22:29665018-29665018

c.676_810del135; p.N226_E270del; 22:29661205-29661339

c.333delG; p.E112fs*11; 22:29639182-29639182

c.600-1G>C; p.?; 22:29658188-29658188

c.241-6_-2CTGCA>G; p.?; 22:29639084-29639088

c.1397G>A; p.R466Q; 22:29674892-29674892

c.1373delT; p.L458fs*27; 22:29674868-29674868

c.602_603delAT; p.D201fs*3; 22:29658191-29658192

c.1334_1337delAGAG; p.E445fs*9; 22:29673480-29673483

c.95_96delAG; p.E32fs*16; 22:29604093-29604094

c.1051delC; p.R351fs*13; 22:29671877-29671877

c.1568_1574+7del14; p.?; 22:29678317-29678323

c.602_603delAT; p.D201fs*3; 22:29658191-29658192

c.623_674del52; p.L208fs*26; 22:29658212-29658263

c.1413delG; p.K471fs*14; 22:29674908-29674908

c.605delA; p.A203fs*6; 22:29658194-29658194

c.584A>C; p.H195P; 22:29655661-29655661

c.298delT; p.Y101fs*22; 22:29639147-29639147

c.447+1G>C; p.?; 22:29642286-29642286

c.421_424delCTGG; p.A142fs*31; 22:29642259-29642262

c.490_496delGCCCAAG; p.A164fs*8; 22:29654699-29654705

c.447+2T>C; p.?; 22:29642287-29642287

c.1397delG; p.R466fs*19; 22:29674892-29674892

c.447+2T>C; p.?; 22:29642287-29642287

c.379_402del24; p.L127_P134del; 22:29642217-29642240

c.447+2T>C; p.?; 22:29642287-29642287

c.447+2T>C; p.?; 22:29642287-29642287

c.1480G>A; p.D494N; 22:29678229-29678229

c.1021C>T; p.R341*; 22:29671847-29671847

c.599+1G>A; p.?; 22:29655677-29655677

c.1021C>T; p.R341*; 22:29671847-29671847

c.599+1G>A; p.?; 22:29655677-29655677

c.1264G>T; p.E422*; 22:29673410-29673410

c.1021C>T; p.R341*; 22:29671847-29671847

c.1021C>T; p.R341*; 22:29671847-29671847

c.1021C>T; p.R341*; 22:29671847-29671847

c.1021C>T; p.R341*; 22:29671847-29671847

c.814A>T; p.T272S; 22:29664993-29664993

c.1021C>T; p.R341*; 22:29671847-29671847

c.1021C>T; p.R341*; 22:29671847-29671847

c.1021C>T; p.R341*; 22:29671847-29671847

c.1021C>T; p.R341*; 22:29671847-29671847

c.364-6_372del15; p.?; 22:29642196-29642210

c.1021C>T; p.R341*; 22:29671847-29671847

c.676-10G>A; p.?; 22:29661195-29661195

c.1021C>T; p.R341*; 22:29671847-29671847

c.599+1G>A; p.?; 22:29655677-29655677

c.1021C>T; p.R341*; 22:29671847-29671847

c.1021C>T; p.R341*; 22:29671847-29671847

c.1021C>T; p.R341*; 22:29671847-29671847

c.1021C>T; p.R341*; 22:29671847-29671847

c.1439_1446+19del27; p.?; 22:29674934-29674941

c.1021C>T; p.R341*; 22:29671847-29671847

c.1021C>T; p.R341*; 22:29671847-29671847

c.364-1G>C; p.?; 22:29642201-29642201

c.1021C>T; p.R341*; 22:29671847-29671847

c.1021C>T; p.R341*; 22:29671847-29671847

c.1021C>T; p.R341*; 22:29671847-29671847

c.1264G>T; p.E422*; 22:29673410-29673410

c.1021C>T; p.R341*; 22:29671847-29671847

c.885+19delTTTCATTACTGATAAT; p.?; 22:29665083-29665098

c.448_455delTATGGTGA; p.?; 22:29654654-29654664

c.363+1G>A; p.?; 22:29639213-29639213

c.885+19delTTTCATTACTGATAAT; p.?; 22:29665083-29665098

c.1341_1351del11; p.?; 22:29674831-29674846

c.482G>T; p.G161V; 22:29654691-29654691

c.1334_1335insG; p.R446fs*49; 22:29673480-29673481

c.592C>T; p.R198*; 22:29655669-29655669

c.592C>T; p.R198*; 22:29655669-29655669

c.592C>T; p.R198*; 22:29655669-29655669

c.592C>T; p.R198*; 22:29655669-29655669

c.592C>T; p.R198*; 22:29655669-29655669

c.291_337del47; p.L97fs*17; 22:29639140-29639186

c.1555_1556delAT; p.M519fs*22; 22:29678304-29678305

c.1474C>T; p.P492S; 22:29678223-29678223

c.659_665delACTACTT; p.N220fs*29; 22:29658248-29658254

c.346delC; p.H116fs*7; 22:29639195-29639195

c.272C>T; p.P91L; 22:29639121-29639121

c.70delG; p.V24fs*1; 22:29604068-29604068

c.448-1G>A; p.?; 22:29654656-29654656

c.739delG; p.E247fs*4; 22:29661268-29661268

c.713C>T; p.A238V; 22:29661242-29661242

c.1075_1076insT; p.R359fs*20; 22:29671901-29671902

c.675+1G>A; p.?; 22:29658265-29658265

c.448-1G>A; p.?; 22:29654656-29654656

c.448-1G>A; p.?; 22:29654656-29654656

c.675+1G>A; p.?; 22:29658265-29658265

c.70delG; p.V24fs*1; 22:29604068-29604068

c.314_327del14; p.A105fs*20; 22:29639163-29639176

c.1058_1064delGGGATGA; p.R353fs*9; 22:29671884-29671890

c.448-1G>A; p.?; 22:29654656-29654656

c.527_528insT; p.Y177fs*26; 22:29655604-29655605

c.448-1G>A; p.?; 22:29654656-29654656

c.1058_1064delGGGATGA; p.R353fs*9; 22:29671884-29671890

c.482delG; p.G161fs*13; 22:29654691-29654691

c.1286delA; p.K429fs*10; 22:29673432-29673432

c.193_197delCAGTA; p.Q65fs*19; 22:29636829-29636833

c.495_496insCG; p.E166fs*9; 22:29654704-29654705

c.1362_1390del29; p.K455fs*30; 22:29674857-29674885

c.1015C>T; p.L339F; 22:29671841-29671841

c.757_795del39; p.K253_S265del; 22:29661286-29661324

c.679delA; p.K228fs*23; 22:29661208-29661208

c.1621delG; p.E541fs*9; 22:29681485-29681485

c.441delG; p.A148fs*26; 22:29642279-29642279

c.1569_1570delAG; p.E524fs*17; 22:29678318-29678319

c.115-1G>C; p.?; 22:29636750-29636750

c.276_282delCACCTTT; p.F94fs*27; 22:29639125-29639131

c.479delG; p.G161fs*13; 22:29654688-29654688

c.353_363del11; p.?; 22:29639202-29639231

c.172G>T; p.E58*; 22:29636808-29636808

c.563_576del14; p.I188fs*10; 22:29655640-29655653

c.105delC; p.F35fs*5; 22:29604103-29604103

c.280_280delT; p.H95fs*28; 22:29639129-29639129

c.1075_1084del10; p.L360fs*1; 22:29671901-29671910

c.1583A>G; p.Y528C; 22:29681447-29681447

c.855_855delT; p.F285fs*11; 22:29665034-29665034

c.422T>G; p.L141R; 22:29642260-29642260

c.621delT; p.L208fs*1; 22:29658210-29658210

c.257_331del75; p.V86_Q111>E; 22:29639106-29639180

c.153_157delCCGGA; p.R52fs*32; 22:29636789-29636793

c.628_629insT; p.A211fs*17; 22:29658217-29658218

c.378_388>CT; p.L127fs*1; 22:29642216-29642226

c.1340+8G>T; p.?; 22:29673494-29673494

c.394_394delT; p.Y132fs*42; 22:29642232-29642232

c.650delA; p.Y217fs*3; 22:29658239-29658239

c.524A>G; p.N175S; 22:29655601-29655601

c.1546C>T; p.R516W; 22:29678295-29678295

c.1513_1516delCTGT; p.F507fs*7; 22:29678262-29678265

c.511A>T; p.K171*; 22:29654720-29654720

c.301delT; p.Y101fs*22; 22:29639150-29639150

c.431_432insAA; p.Y144fs*1; 22:29642269-29642270

c.399delC; p.P134fs*40; 22:29642237-29642237

c.1038G>T; p.R346S; 22:29671864-29671864

c.112G>T; p.E38*; 22:29604110-29604110

c.148delG; p.V50fs*73; 22:29636784-29636784

c.303T>C; p.Y101Y; 22:29639152-29639152

c.303T>C; p.Y101Y; 22:29639152-29639152

c.225_226insA; p.M77fs*9; 22:29636861-29636862

c.225_226insA; p.M77fs*9; 22:29636861-29636862

c.1163delC; p.Q389fs*37; 22:29673309-29673309

c.586C>T; p.R196*; 22:29655663-29655663

c.586C>T; p.R196*; 22:29655663-29655663

c.586C>T; p.R196*; 22:29655663-29655663

c.586C>T; p.R196*; 22:29655663-29655663

c.586C>T; p.R196*; 22:29655663-29655663

c.1446+1G>A; p.?; 22:29674942-29674942

c.586C>T; p.R196*; 22:29655663-29655663

c.586C>T; p.R196*; 22:29655663-29655663

c.999+1G>T; p.?; 22:29668447-29668447

c.1332_1333delAG; p.R446fs*48; 22:29673478-29673479

c.586C>T; p.R196*; 22:29655663-29655663

c.586C>T; p.R196*; 22:29655663-29655663

c.364-2A>G; p.?; 22:29642200-29642200

c.586C>T; p.R196*; 22:29655663-29655663

c.1266_1267delGA; p.K423fs*19; 22:29673412-29673413

c.586C>T; p.R196*; 22:29655663-29655663

c.364-2A>G; p.?; 22:29642200-29642200

c.364-2A>G; p.?; 22:29642200-29642200

c.552G>A; p.W184*; 22:29655629-29655629

c.364-2A>G; p.?; 22:29642200-29642200

c.552G>A; p.W184*; 22:29655629-29655629

c.552G>A; p.W184*; 22:29655629-29655629

c.586C>T; p.R196*; 22:29655663-29655663

c.999+1G>T; p.?; 22:29668447-29668447

c.1519_1520delTT; p.F507fs*6; 22:29678268-29678269

c.745delA; p.R249fs*2; 22:29661274-29661274

c.1393delG; p.E465fs*20; 22:29674888-29674888

c.497delA; p.E166fs*8; 22:29654706-29654706

c.548T>C; p.M183T; 22:29655625-29655625

c.644A>G; p.E215G; 22:29658233-29658233

c.737delC; p.P246fs*5; 22:29661266-29661266

c.739G>T; p.E247*; 22:29661268-29661268

c.737delC; p.P246fs*5; 22:29661266-29661266

c.1540A>G; p.M514V; 22:29678289-29678289

c.389delA; p.K130fs*44; 22:29642227-29642227

c.282_357del76; p.H95fs*3; 22:29639131-29639206

c.1000-1G>T; p.?; 22:29671825-29671825

c.468T>A; p.S156R; 22:29654677-29654677

c.1407_1417del11; p.K469fs*22; 22:29674902-29674912

c.1384delC; p.R462fs*23; 22:29674879-29674879

c.1435delC; p.T480fs*5; 22:29674930-29674930

c.61_85del25; p.T21fs*11; 22:29604059-29604083

c.414_414delT; p.V139fs*35; 22:29642252-29642252

c.1082_1106del25; p.L361fs*6; 22:29671908-29671932

c.209_210delAC; p.T71fs*14; 22:29636845-29636846

c.1435delC; p.T480fs*5; 22:29674930-29674930

c.867G>A; p.K289K; 22:29665046-29665046

c.606delA; p.A203fs*6; 22:29658195-29658195

c.941_948delATTCTTTG; p.D314fs*15; 22:29668388-29668395

c.787_788delAA; p.N263fs*5; 22:29661316-29661317

c.1192_1193delCT; p.L398fs*8; 22:29673338-29673339

c.134delA; p.D45fs*78; 22:29636770-29636770

c.578_579insAG; p.H195fs*15; 22:29655655-29655656

c.319G>T; p.E107*; 22:29639168-29639168

c.619_620delTA; p.Y207fs*20; 22:29658208-29658209

c.1122+1_1122+2delGT; p.?; 22:29671949-29671950

c.1075A>T; p.R359W; 22:29671901-29671901

c.403delC; p.P135fs*39; 22:29642241-29642241

c.392_393ins?; p.?fs; 22:29642230-29642231

c.1443delC; p.P482fs*3; 22:29674938-29674938

c.132_147del16; p.D45fs*73; 22:29636768-29636783

c.516G>A; p.R172R; 22:29654725-29654725

c.1379_1379delA; p.A461fs*24; 22:29674874-29674874

c.1166A>T; p.Q389L; 22:29673312-29673312

c.357_359delCTT; p.F119del; 22:29639206-29639208

c.774G>A; p.W258*; 22:29661303-29661303

c.357_359delCTT; p.F119del; 22:29639206-29639208

c.1571_1572delAA; p.K525fs*16; 22:29678320-29678321

c.357_359delCTT; p.F119del; 22:29639206-29639208

c.373C>T; p.Q125*; 22:29642211-29642211

c.970C>T; p.Q324*; 22:29668417-29668417

c.844delG; p.V282fs*14; 22:29665023-29665023

c.1132delG; p.E378fs*48; 22:29673278-29673278

c.186_186delT; p.F62fs*61; 22:29636822-29636822

c.1132delG; p.E378fs*48; 22:29673278-29673278

c.357_359delCTT; p.F119del; 22:29639206-29639208

c.115-3delC; p.?; 22:29636748-29636748

c.1189_1195delCTTCTGG; p.L397fs*27; 22:29673335-29673341

c.1347_1387del41; p.E450fs*31; 22:29674842-29674882

c.1122+0insA; p.?; 22:29671948-29671949

c.1356delT; p.Q453fs*2; 22:29674851-29674851

c.1161delG; p.A388fs*38; 22:29673307-29673307

c.1698C>T; p.S566S; 22:29681562-29681562

c.1178_1185AGGAGGCA>C; p.E393fs*31; 22:29673324-29673331

c.1107delG; p.A370fs*5; 22:29671933-29671933

c.1080delG; p.L361fs*3; 22:29671906-29671906

c.692_693delAG; p.E231fs*14; 22:29661221-29661222

c.1387G>A; p.E463K; 22:29674882-29674882

c.594A>G; p.R198R; 22:29655671-29655671

c.1333_1336delGAGA; p.E445fs*9; 22:29673479-29673482

c.1092delA; p.E365fs*10; 22:29671918-29671918

c.1387G>A; p.E463K; 22:29674882-29674882

c.70_71insT; p.R25fs*24; 22:29604068-29604069

c.620delA; p.Y207fs*2; 22:29658209-29658209

c.1566_1568GAA>TAG; p.E522_K523>DR; 22:29678315-29678317

c.594A>G; p.R198R; 22:29655671-29655671

c.70_71insT; p.R25fs*24; 22:29604068-29604069

c.599+2T>C; p.?; 22:29655678-29655678

c.799_800insGT; p.D268fs*29; 22:29661328-29661329

c.447G>A; p.K149K; 22:29642285-29642285

c.506delT; p.P170fs*4; 22:29654715-29654715

c.600-28delATGACAGTGTCTTCCGTTCTCCCC; p.?; 22:29658161-29658184

c.676delA; p.N226fs*25; 22:29661205-29661205

c.571T>A; p.W191R; 22:29655648-29655648

c.1055C>T; p.T352M; 22:29671881-29671881

c.914_935del22; p.D305fs*10; 22:29668361-29668382

c.1781A>G; p.E594G; 22:29694795-29694795

c.735delC; p.P246fs*5; 22:29661264-29661264

c.264_265insG; p.E89fs*15; 22:29639113-29639114

c.439C>T; p.Q147*; 22:29642277-29642277

c.1446+1G>C; p.?; 22:29674942-29674942

c.369G>T; p.K123N; 22:29642207-29642207

c.339delC; p.T114fs*9; 22:29639188-29639188

c.199A>G; p.T67A; 22:29636835-29636835

c.1494delC; p.F498fs*17; 22:29678243-29678243

c.439C>T; p.Q147*; 22:29642277-29642277

c.1446+1G>C; p.?; 22:29674942-29674942

c.995delA; p.K332fs*14; 22:29668442-29668442

c.770_771insGT; p.W258fs*39; 22:29661299-29661300

c.1534A>T; p.T512S; 22:29678283-29678283

c.54_55insC; p.K20fs*29; 22:29604052-29604053

c.288C>A; p.F96L; 22:29639137-29639137

c.147delG; p.V50fs*73; 22:29636783-29636783

c.955C>T; p.Q319*; 22:29668402-29668402

c.432C>A; p.Y144*; 22:29642270-29642270

c.1366C>A; p.Q456K; 22:29674861-29674861

c.955C>T; p.Q319*; 22:29668402-29668402

c.999+1G>A; p.?; 22:29668447-29668447

c.999+1G>A; p.?; 22:29668447-29668447

c.352_354delTTC; p.F118del; 22:29639201-29639203

c.355delT; p.F119fs*4; 22:29639204-29639204

c.432C>A; p.Y144*; 22:29642270-29642270

c.352_354delTTC; p.F118del; 22:29639201-29639203

c.432C>A; p.Y144*; 22:29642270-29642270

c.352_354delTTC; p.F118del; 22:29639201-29639203

c.955C>T; p.Q319*; 22:29668402-29668402

c.999+1G>A; p.?; 22:29668447-29668447

c.432C>A; p.Y144*; 22:29642270-29642270

c.36_37delCT; p.L14fs*34; 22:29604034-29604035

c.203_204insA; p.K69fs*17; 22:29636839-29636840

c.573_581GTACGCAGA>T; p.W191fs*9; 22:29655650-29655658

c.1672C>G; p.L558V; 22:29681536-29681536

c.36_37delCT; p.L14fs*34; 22:29604034-29604035

c.36_37delCT; p.L14fs*34; 22:29604034-29604035

c.1184delC; p.A395fs*31; 22:29673330-29673330

c.341_342ins?; p.?fs; 22:29639190-29639191

c.203_204insA; p.K69fs*17; 22:29636839-29636840

c.810+6delA; p.?; 22:29661345-29661345

c.595_599delGCCAG; p.?; 22:29655672-29655679

c.205_211delAAGGACA; p.K69fs*52; 22:29636841-29636847

c.911_921del11; p.D305fs*23; 22:29668358-29668368

c.448-2A>G; p.?; 22:29654655-29654655

c.992_999delGAAAGCAG; p.?; 22:29668439-29668447

c.365_447del83; p.K123fs*2; 22:29642203-29642285

c.448-2A>G; p.?; 22:29654655-29654655

c.448-2A>G; p.?; 22:29654655-29654655

c.1447_1571del125; p.P483fs*17; 22:29678196-29678320

c.448-2A>G; p.?; 22:29654655-29654655

c.76delA; p.I26fs*14; 22:29604074-29604074

c.1584delC; p.Y528fs*1; 22:29681448-29681448

c.1_27del27; p.?; 22:29603966-29604025

c.76delA; p.I26fs*14; 22:29604074-29604074

c.250C>T; p.H84Y; 22:29639099-29639099

c.458A>G; p.Y153C; 22:29654667-29654667

c.283C>T; p.H95Y; 22:29639132-29639132

c.1022G>A; p.R341Q; 22:29671848-29671848

c.458A>G; p.Y153C; 22:29654667-29654667