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.1779G>A; p.K593K; 1:7664326-7664326

c.2115C>T; p.L705L; 1:7664662-7664662

c.1991C>T; p.T664M; 1:7664538-7664538

c.4308A>G; p.T1436T; 1:7744960-7744960

c.1991C>T; p.T664M; 1:7664538-7664538

c.959G>A; p.G320D; 1:7663506-7663506

c.1390C>T; p.L464L; 1:7663937-7663937

c.3117C>T; p.V1039V; 1:7736394-7736394

c.1466delT; p.N490fs*14; 1:7664013-7664013

c.2953C>T; p.Q985*; 1:7732486-7732486

c.999C>T; p.P333P; 1:7663546-7663546

c.4417A>G; p.S1473G; 1:7745891-7745891

c.3274G>A; p.A1092T; 1:7736941-7736941

c.4702delA; p.K1569fs*2; 1:7751211-7751211

c.2355G>A; p.G785G; 1:7664902-7664902

c.3000A>G; p.K1000K; 1:7732533-7732533

c.3000A>G; p.K1000K; 1:7732533-7732533

c.3329C>T; p.S1110F; 1:7736996-7736996

c.2432G>T; p.R811L; 1:7664979-7664979

c.264G>A; p.E88E; 1:7091333-7091333

c.1708C>T; p.P570S; 1:7664255-7664255

c.2331C>T; p.I777I; 1:7664878-7664878

c.928G>C; p.E310Q; 1:7663475-7663475

c.877C>T; p.R293W; 1:7663424-7663424

c.4725C>T; p.I1575I; 1:7751234-7751234

c.4725C>T; p.I1575I; 1:7751234-7751234

c.821T>C; p.V274A; 1:7663368-7663368

c.821T>C; p.V274A; 1:7663368-7663368

c.3463G>A; p.G1155S; 1:7737375-7737375

c.2826G>T; p.Q942H; 1:7677645-7677645

c.4909G>C; p.D1637H; 1:7752484-7752484

c.3582G>T; p.M1194I; 1:7737494-7737494

c.1454C>T; p.P485L; 1:7664001-7664001

c.603C>T; p.T201T; 1:7640492-7640492

c.4326T>G; p.S1442R; 1:7744978-7744978

c.3944C>A; p.S1315Y; 1:7738244-7738244

c.858C>A; p.I286I; 1:7663405-7663405

c.396G>A; p.T132T; 1:7249584-7249584

c.2429C>T; p.A810V; 1:7664976-7664976

c.3215C>A; p.A1072D; 1:7736492-7736492

c.2429C>T; p.A810V; 1:7664976-7664976

c.2430G>A; p.A810A; 1:7664977-7664977

c.2484G>C; p.Q828H; 1:7665031-7665031

c.2679C>T; p.G893G; 1:7670937-7670937

c.3054G>C; p.G1018G; 1:7732587-7732587

c.1882G>A; p.E628K; 1:7664429-7664429

c.1334C>T; p.P445L; 1:7663881-7663881

c.1881C>T; p.V627V; 1:7664428-7664428

c.927G>A; p.S309S; 1:7663474-7663474

c.927G>A; p.S309S; 1:7663474-7663474

c.1881C>T; p.V627V; 1:7664428-7664428

c.1881C>T; p.V627V; 1:7664428-7664428

c.1834C>T; p.P612S; 1:7664381-7664381

c.2765G>A; p.R922H; 1:7671023-7671023

c.1991C>G; p.T664R; 1:7664538-7664538

c.3401G>A; p.R1134H; 1:7737313-7737313

c.4965G>T; p.L1655L; 1:7755644-7755644

c.1409T>A; p.L470H; 1:7663956-7663956

c.1521G>T; p.M507I; 1:7664068-7664068

c.2490C>T; p.S830S; 1:7665037-7665037

c.2915-2A>G; p.?; 1:7732446-7732446

c.2304C>T; p.S768S; 1:7664851-7664851

c.2399G>A; p.S800N; 1:7664946-7664946

c.3401G>T; p.R1134L; 1:7737313-7737313

c.2253C>T; p.S751S; 1:7664800-7664800

c.2304C>T; p.S768S; 1:7664851-7664851

c.692A>C; p.N231T; 1:7661753-7661753

c.3501G>C; p.Q1167H; 1:7737413-7737413

c.1749G>T; p.Q583H; 1:7664296-7664296

c.3501G>C; p.Q1167H; 1:7737413-7737413

c.3901T>C; p.S1301P; 1:7738201-7738201

c.1872C>A; p.P624P; 1:7664419-7664419

c.2424C>T; p.D808D; 1:7664971-7664971

c.3403C>T; p.R1135W; 1:7737315-7737315

c.3062C>T; p.A1021V; 1:7732595-7732595

c.489G>C; p.R163R; 1:7467880-7467880

c.1443G>A; p.M481I; 1:7663990-7663990

c.132C>T; p.S44S; 1:6825108-6825108

c.414G>A; p.M138I; 1:7249602-7249602

c.630G>A; p.T210T; 1:7640519-7640519

c.630G>A; p.T210T; 1:7640519-7640519

c.4066C>T; p.R1356W; 1:7738366-7738366

c.4049C>T; p.P1350L; 1:7738349-7738349

c.3379G>A; p.V1127I; 1:7737291-7737291

c.4551T>A; p.S1517S; 1:7746025-7746025

c.2093C>T; p.A698V; 1:7664640-7664640

c.4551T>A; p.S1517S; 1:7746025-7746025

c.2353G>T; p.G785W; 1:7664900-7664900

c.3976C>A; p.L1326I; 1:7738276-7738276

c.3446G>T; p.G1149V; 1:7737358-7737358

c.1514C>T; p.A505V; 1:7664061-7664061

c.270C>T; p.H90H; 1:7091339-7091339

c.1323G>C; p.K441N; 1:7663870-7663870

c.350A>G; p.Y117C; 1:7249538-7249538

c.2039A>G; p.N680S; 1:7664586-7664586

c.1784A>G; p.Y595C; 1:7664331-7664331

c.2545G>A; p.A849T; 1:7665092-7665092

c.1410C>G; p.L470L; 1:7663957-7663957

c.2382G>A; p.Q794Q; 1:7664929-7664929

c.4967T>C; p.V1656A; 1:7755646-7755646

c.70G>T; p.G24*; 1:6820205-6820205

c.1414G>A; p.G472S; 1:7663961-7663961

c.1518G>T; p.E506D; 1:7664065-7664065

c.791G>C; p.C264S; 1:7661852-7661852

c.2568G>A; p.S856S; 1:7665115-7665115

c.1494_1495insG; p.G501fs*137; 1:7664041-7664042

c.926C>T; p.S309L; 1:7663473-7663473

c.3899T>A; p.L1300H; 1:7738199-7738199

c.3531C>G; p.N1177K; 1:7737443-7737443

c.4447G>A; p.A1483T; 1:7745921-7745921

c.2999A>C; p.K1000T; 1:7732532-7732532

c.2609T>A; p.V870E; 1:7665156-7665156

c.2328G>C; p.L776L; 1:7664875-7664875

c.2874C>A; p.P958P; 1:7677693-7677693

c.3198G>C; p.M1066I; 1:7736475-7736475

c.4330C>T; p.L1444L; 1:7744982-7744982

c.2874C>A; p.P958P; 1:7677693-7677693

c.4452C>T; p.F1484F; 1:7745926-7745926

c.4052C>A; p.S1351*; 1:7738352-7738352

c.1848C>A; p.F616L; 1:7664395-7664395

c.2841G>T; p.S947S; 1:7677660-7677660

c.4369C>T; p.R1457*; 1:7745021-7745021

c.3404G>C; p.R1135P; 1:7737316-7737316

c.4225C>T; p.P1409S; 1:7744877-7744877

c.1072T>A; p.S358T; 1:7663619-7663619

c.1595T>A; p.I532N; 1:7664142-7664142

c.2561C>A; p.A854D; 1:7665108-7665108

c.4982A>G; p.Y1661C; 1:7755661-7755661

c.2514C>T; p.G838G; 1:7665061-7665061

c.3109C>T; p.R1037C; 1:7736386-7736386

c.2570C>T; p.A857V; 1:7665117-7665117

c.5003A>G; p.E1668G; 1:7766472-7766472

c.2570C>T; p.A857V; 1:7665117-7665117

c.3126C>T; p.C1042C; 1:7736403-7736403

c.806-1G>T; p.?; 1:7663352-7663352

c.3671C>T; p.P1224L; 1:7737971-7737971

c.1239C>T; p.S413S; 1:7663786-7663786

c.4124G>T; p.G1375V; 1:7738424-7738424

c.3707G>T; p.S1236I; 1:7738007-7738007

c.694G>A; p.G232R; 1:7661755-7661755

c.892G>A; p.G298R; 1:7663439-7663439

c.4002G>T; p.Q1334H; 1:7738302-7738302

c.4002G>T; p.Q1334H; 1:7738302-7738302

c.694G>A; p.G232R; 1:7661755-7661755

c.1590G>T; p.K530N; 1:7664137-7664137

c.1320C>T; p.H440H; 1:7663867-7663867

c.3421G>A; p.D1141N; 1:7737333-7737333

c.1361C>T; p.S454F; 1:7663908-7663908

c.525C>T; p.V175V; 1:7640414-7640414

c.3049G>T; p.G1017*; 1:7732582-7732582

c.476C>T; p.P159L; 1:7467867-7467867

c.2502C>T; p.S834S; 1:7665049-7665049

c.806-8C>A; p.?; 1:7663345-7663345

c.3276G>A; p.A1092A; 1:7736943-7736943

c.3835T>A; p.S1279T; 1:7738135-7738135

c.3414G>A; p.S1138S; 1:7737326-7737326

c.4324A>G; p.S1442G; 1:7744976-7744976

c.4489G>C; p.E1497Q; 1:7745963-7745963

c.1788G>T; p.T596T; 1:7664335-7664335

c.1687A>G; p.T563A; 1:7664234-7664234

c.4581T>G; p.A1527A; 1:7746055-7746055

c.1350G>A; p.S450S; 1:7663897-7663897

c.1447T>G; p.F483V; 1:7663994-7663994

c.2779G>T; p.A927S; 1:7671037-7671037

c.4311G>C; p.M1437I; 1:7744963-7744963

c.1154C>T; p.A385V; 1:7663701-7663701

c.4736G>A; p.S1579N; 1:7751245-7751245

c.1464C>T; p.F488F; 1:7664011-7664011

c.1154C>T; p.A385V; 1:7663701-7663701

c.3028G>A; p.G1010S; 1:7732561-7732561

c.4689+1G>A; p.?; 1:7747782-7747782

c.1483G>A; p.G495S; 1:7664030-7664030

c.2193C>T; p.G731G; 1:7664740-7664740

c.3898C>T; p.L1300F; 1:7738198-7738198

c.2816T>A; p.F939Y; 1:7677635-7677635

c.4316G>T; p.W1439L; 1:7744968-7744968

c.772C>T; p.R258W; 1:7661833-7661833

c.4016C>T; p.P1339L; 1:7738316-7738316

c.3419C>A; p.P1140H; 1:7737331-7737331

c.620C>T; p.A207V; 1:7640509-7640509

c.465C>T; p.S155S; 1:7467856-7467856

c.4760delA; p.K1589fs*33; 1:7751269-7751269

c.4760delA; p.K1589fs*33; 1:7751269-7751269

c.4760delA; p.K1589fs*33; 1:7751269-7751269

c.4760delA; p.K1589fs*33; 1:7751269-7751269

c.556G>A; p.E186K; 1:7640445-7640445

c.4135G>A; p.D1379N; 1:7738435-7738435

c.556G>A; p.E186K; 1:7640445-7640445

c.2335G>A; p.D779N; 1:7664882-7664882

c.4951C>T; p.R1651C; 1:7752526-7752526

c.333C>T; p.N111N; 1:7249521-7249521

c.1314T>C; p.D438D; 1:7663861-7663861

c.333C>T; p.N111N; 1:7249521-7249521

c.1676C>T; p.S559F; 1:7664223-7664223

c.1787C>T; p.T596M; 1:7664334-7664334

c.2208C>G; p.L736L; 1:7664755-7664755

c.2635G>C; p.E879Q; 1:7665182-7665182

c.2218G>A; p.V740M; 1:7664765-7664765

c.2558C>T; p.S853L; 1:7665105-7665105

c.1230C>T; p.Y410Y; 1:7663777-7663777

c.2218G>A; p.V740M; 1:7664765-7664765

c.3556G>A; p.E1186K; 1:7737468-7737468

c.1430C>T; p.P477L; 1:7663977-7663977

c.621G>A; p.A207A; 1:7640510-7640510

c.4317G>C; p.W1439C; 1:7744969-7744969

c.1617C>T; p.F539F; 1:7664164-7664164

c.621G>A; p.A207A; 1:7640510-7640510

c.504C>T; p.L168L; 1:7467895-7467895

c.1926C>T; p.F642F; 1:7664473-7664473

c.613G>A; p.E205K; 1:7640502-7640502

c.3722C>T; p.P1241L; 1:7738022-7738022

c.540G>A; p.L180L; 1:7640429-7640429

c.1805C>T; p.T602M; 1:7664352-7664352

c.613G>A; p.E205K; 1:7640502-7640502

c.3722C>T; p.P1241L; 1:7738022-7738022

c.1525A>G; p.S509G; 1:7664072-7664072

c.613G>A; p.E205K; 1:7640502-7640502

c.3759C>G; p.F1253L; 1:7738059-7738059

c.202C>T; p.P68S; 1:6825178-6825178

c.1101C>G; p.N367K; 1:7663648-7663648

c.3343-1G>A; p.?; 1:7737254-7737254

c.523G>A; p.V175I; 1:7640412-7640412

c.1023C>T; p.T341T; 1:7663570-7663570

c.3572A>G; p.E1191G; 1:7737484-7737484

c.2478C>T; p.P826P; 1:7665025-7665025

c.3682C>A; p.P1228T; 1:7737982-7737982

c.559G>A; p.D187N; 1:7640448-7640448

c.2559G>T; p.S853S; 1:7665106-7665106

c.4438A>G; p.S1480G; 1:7745912-7745912

c.1647C>T; p.S549S; 1:7664194-7664194

c.2067G>T; p.E689D; 1:7664614-7664614

c.3705G>A; p.E1235E; 1:7738005-7738005

c.1574C>T; p.T525I; 1:7664121-7664121

c.2345C>T; p.S782F; 1:7664892-7664892

c.4712C>T; p.T1571I; 1:7751221-7751221

c.4712C>T; p.T1571I; 1:7751221-7751221

c.1329C>T; p.A443A; 1:7663876-7663876

c.2405C>T; p.A802V; 1:7664952-7664952

c.3661C>A; p.L1221M; 1:7737961-7737961

c.2817C>T; p.F939F; 1:7677636-7677636

c.893G>A; p.G298E; 1:7663440-7663440

c.1495G>T; p.G499W; 1:7664042-7664042

c.1349C>T; p.S450L; 1:7663896-7663896

c.1329C>T; p.A443A; 1:7663876-7663876

c.2405C>T; p.A802V; 1:7664952-7664952

c.1588A>T; p.K530*; 1:7664135-7664135

c.1326C>T; p.F442F; 1:7663873-7663873

c.1326C>T; p.F442F; 1:7663873-7663873

c.1326C>T; p.F442F; 1:7663873-7663873

c.1326C>T; p.F442F; 1:7663873-7663873

c.858C>T; p.I286I; 1:7663405-7663405

c.505C>A; p.L169I; 1:7467896-7467896

c.2976G>C; p.E992D; 1:7732509-7732509

c.958G>T; p.G320C; 1:7663505-7663505

c.4906C>T; p.Q1636*; 1:7752481-7752481

c.629C>T; p.T210M; 1:7640518-7640518

c.716C>T; p.S239L; 1:7661777-7661777

c.4631G>A; p.R1544Q; 1:7747723-7747723

c.4383C>G; p.N1461K; 1:7745857-7745857

c.1035C>T; p.S345S; 1:7663582-7663582

c.4631G>A; p.R1544Q; 1:7747723-7747723

c.4358C>T; p.A1453V; 1:7745010-7745010

c.2062G>A; p.G688R; 1:7664609-7664609

c.2379C>A; p.H793Q; 1:7664926-7664926

c.1980T>C; p.G660G; 1:7664527-7664527

c.1095G>A; p.G365G; 1:7663642-7663642

c.4567G>T; p.E1523*; 1:7746041-7746041

c.153C>G; p.I51M; 1:6825129-6825129

c.930G>T; p.E310D; 1:7663477-7663477

c.240T>C; p.I80I; 1:7091309-7091309

c.1652C>T; p.S551F; 1:7664199-7664199

c.716C>A; p.S239*; 1:7661777-7661777

c.1839C>T; p.S613S; 1:7664386-7664386

c.3015C>T; p.G1005G; 1:7732548-7732548

c.4469C>T; p.P1490L; 1:7745943-7745943

c.1113C>A; p.D371E; 1:7663660-7663660

c.1636G>A; p.E546K; 1:7664183-7664183

c.2385G>A; p.L795L; 1:7664932-7664932

c.4242G>T; p.Q1414H; 1:7744894-7744894

c.2385G>A; p.L795L; 1:7664932-7664932

c.2734C>A; p.P912T; 1:7670992-7670992

c.1193C>T; p.T398M; 1:7663740-7663740

c.2817C>A; p.F939L; 1:7677636-7677636

c.4775A>G; p.Q1592R; 1:7751284-7751284

c.3413C>T; p.S1138L; 1:7737325-7737325

c.2346C>T; p.S782S; 1:7664893-7664893

c.3685T>G; p.S1229A; 1:7737985-7737985

c.2346C>T; p.S782S; 1:7664893-7664893

c.274G>A; p.E92K; 1:7091343-7091343

c.487C>T; p.R163W; 1:7467878-7467878

c.3350C>T; p.A1117V; 1:7737262-7737262

c.3350C>T; p.A1117V; 1:7737262-7737262

c.3350C>T; p.A1117V; 1:7737262-7737262

c.3350C>T; p.A1117V; 1:7737262-7737262

c.4578G>T; p.E1526D; 1:7746052-7746052

c.4546C>G; p.L1516V; 1:7746020-7746020

c.403G>C; p.E135Q; 1:7249591-7249591

c.148A>C; p.K50Q; 1:6825124-6825124

c.3671C>A; p.P1224H; 1:7737971-7737971

c.5006A>G; p.K1669R; 1:7766475-7766475

c.3233C>T; p.A1078V; 1:7736510-7736510

c.1730C>T; p.P577L; 1:7664277-7664277

c.4158C>T; p.C1386C; 1:7738458-7738458

c.4158C>T; p.C1386C; 1:7738458-7738458

c.4158C>T; p.C1386C; 1:7738458-7738458

c.1406C>A; p.T469N; 1:7663953-7663953

c.2824C>A; p.Q942K; 1:7677643-7677643

c.2041T>G; p.F681V; 1:7664588-7664588

c.2239G>A; p.V747M; 1:7664786-7664786

c.586C>A; p.L196I; 1:7640475-7640475

c.2696G>T; p.S899I; 1:7670954-7670954

c.153C>A; p.I51I; 1:6825129-6825129

c.1369C>T; p.P457S; 1:7663916-7663916

c.269A>G; p.H90R; 1:7091338-7091338

c.2445C>T; p.T815T; 1:7664992-7664992

c.2841G>A; p.S947S; 1:7677660-7677660

c.2841G>A; p.S947S; 1:7677660-7677660

c.90T>C; p.V30V; 1:6820225-6820225

c.1366C>T; p.L456L; 1:7663913-7663913

c.819C>T; p.S273S; 1:7663366-7663366

c.3452C>T; p.A1151V; 1:7737364-7737364

c.2786A>C; p.D929A; 1:7677605-7677605

c.604G>A; p.D202N; 1:7640493-7640493

c.1938G>A; p.T646T; 1:7664485-7664485

c.76A>G; p.S26G; 1:6820211-6820211

c.3836C>A; p.S1279Y; 1:7738136-7738136

c.1496G>A; p.G499E; 1:7664043-7664043

c.2403G>A; p.T801T; 1:7664950-7664950

c.3899T>C; p.L1300P; 1:7738199-7738199

c.1860C>T; p.D620D; 1:7664407-7664407

c.162_163insA; p.L57fs*3; 1:6825138-6825139

c.2432G>A; p.R811Q; 1:7664979-7664979

c.2404G>A; p.A802T; 1:7664951-7664951

c.2330T>C; p.I777T; 1:7664877-7664877

c.1762G>A; p.A588T; 1:7664309-7664309

c.4086G>C; p.L1362L; 1:7738386-7738386

c.860C>G; p.S287W; 1:7663407-7663407

c.4989+2T>C; p.?; 1:7755670-7755670

c.3948G>T; p.Q1316H; 1:7738248-7738248

c.3948G>T; p.Q1316H; 1:7738248-7738248

c.3948G>T; p.Q1316H; 1:7738248-7738248

c.1721G>A; p.G574D; 1:7664268-7664268

c.3240A>G; p.L1080L; 1:7736517-7736517

c.2996A>T; p.H999L; 1:7732529-7732529

c.883delG; p.Y297fs*93; 1:7663430-7663430

c.883delG; p.Y297fs*93; 1:7663430-7663430

c.4691A>G; p.Y1564C; 1:7751200-7751200

c.938A>G; p.H313R; 1:7663485-7663485

c.3045G>T; p.G1015G; 1:7732578-7732578

c.599A>G; p.N200S; 1:7640488-7640488

c.820G>A; p.V274M; 1:7663367-7663367

c.860C>T; p.S287L; 1:7663407-7663407

c.4698T>A; p.L1566L; 1:7751207-7751207

c.2323G>A; p.D775N; 1:7664870-7664870

c.1553G>A; p.G518E; 1:7664100-7664100

c.860C>T; p.S287L; 1:7663407-7663407

c.1920C>T; p.G640G; 1:7664467-7664467

c.1549C>T; p.P517S; 1:7664096-7664096

c.2323G>A; p.D775N; 1:7664870-7664870

c.860C>T; p.S287L; 1:7663407-7663407

c.508C>G; p.Q170E; 1:7467899-7467899

c.839G>A; p.S280N; 1:7663386-7663386

c.508C>G; p.Q170E; 1:7467899-7467899

c.701G>A; p.S234N; 1:7661762-7661762

c.1183C>A; p.Q395K; 1:7663730-7663730

c.4324A>T; p.S1442C; 1:7744976-7744976

c.3170T>C; p.L1057S; 1:7736447-7736447

c.2906C>T; p.S969L; 1:7677725-7677725

c.4465C>A; p.L1489I; 1:7745939-7745939

c.565G>T; p.G189C; 1:7640454-7640454

c.1686G>A; p.L562L; 1:7664233-7664233

c.4060C>T; p.R1354C; 1:7738360-7738360

c.3030C>T; p.G1010G; 1:7732563-7732563

c.4434C>A; p.P1478P; 1:7745908-7745908

c.1846T>G; p.F616V; 1:7664393-7664393

c.3087C>T; p.A1029A; 1:7736364-7736364

c.571C>T; p.P191S; 1:7640460-7640460

c.4613A>G; p.Y1538C; 1:7746087-7746087

c.4768T>A; p.F1590I; 1:7751277-7751277

c.4475C>T; p.A1492V; 1:7745949-7745949

c.2031C>T; p.F677F; 1:7664578-7664578

c.514_515CC>TT; p.P172F; 1:7640403-7640404

c.514_515CC>TT; p.P172F; 1:7640403-7640404

c.2815T>C; p.F939L; 1:7677634-7677634

c.484C>T; p.H162Y; 1:7467875-7467875

c.130A>G; p.S44G; 1:6825106-6825106

c.130A>G; p.S44G; 1:6825106-6825106

c.1357C>T; p.L453L; 1:7663904-7663904

c.605A>C; p.D202A; 1:7640494-7640494

c.1475C>T; p.P492L; 1:7664022-7664022

c.130A>G; p.S44G; 1:6825106-6825106

c.3199A>C; p.T1067P; 1:7736476-7736476

c.3623C>T; p.P1208L; 1:7737535-7737535

c.4759_4760insA; p.F1590fs*19; 1:7751268-7751269

c.1910A>G; p.D637G; 1:7664457-7664457

c.3307C>T; p.P1103S; 1:7736974-7736974

c.2712C>T; p.C904C; 1:7670970-7670970

c.185C>G; p.P62R; 1:6825161-6825161

c.940G>T; p.E314*; 1:7663487-7663487

c.2223G>A; p.V741V; 1:7664770-7664770

c.2914+6A>G; p.?; 1:7677739-7677739

c.811G>A; p.G271S; 1:7663358-7663358

c.770C>T; p.P257L; 1:7661831-7661831

c.2900G>A; p.W967*; 1:7677719-7677719

c.878G>A; p.R293Q; 1:7663425-7663425

c.480C>T; p.T160T; 1:7467871-7467871

c.4190T>A; p.M1397K; 1:7744842-7744842

c.4190T>A; p.M1397K; 1:7744842-7744842

c.510G>T; p.Q170H; 1:7467901-7467901

c.384A>T; p.K128N; 1:7249572-7249572

c.4787C>T; p.A1596V; 1:7751296-7751296

c.2567C>T; p.S856L; 1:7665114-7665114

c.1579G>A; p.V527I; 1:7664126-7664126

c.522C>T; p.I174I; 1:7640411-7640411

c.3652A>G; p.N1218D; 1:7737564-7737564

c.213G>A; p.R71R; 1:6825189-6825189

c.939C>T; p.H313H; 1:7663486-7663486

c.627G>A; p.W209*; 1:7640516-7640516

c.1104C>T; p.S368S; 1:7663651-7663651

c.3281G>T; p.S1094I; 1:7736948-7736948

c.3971A>G; p.K1324R; 1:7738271-7738271

c.1303G>A; p.V435M; 1:7663850-7663850

c.860C>A; p.S287*; 1:7663407-7663407