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.1172C>T; p.A391V; 4:186708656-186708656

c.13124C>T; p.S4375L; 4:186595703-186595703

c.12340C>T; p.Q4114*; 4:186597710-186597710

c.2367C>A; p.T789T; 4:186707461-186707461

c.1842C>G; p.F614L; 4:186707986-186707986

c.3127G>A; p.V1043M; 4:186706701-186706701

c.8650C>T; p.Q2884*; 4:186617936-186617936

c.4875A>C; p.L1625F; 4:186621711-186621711

c.412C>T; p.Q138*; 4:186709416-186709416

c.12847G>A; p.E4283K; 4:186596693-186596693

c.12215G>A; p.G4072E; 4:186598014-186598014

c.2498A>C; p.E833A; 4:186707330-186707330

c.10385T>C; p.L3462P; 4:186604540-186604540

c.6488C>A; p.A2163D; 4:186620098-186620098

c.6869delT; p.V2290fs*8; 4:186619717-186619717

c.8798A>C; p.Q2933P; 4:186617788-186617788

c.4586C>T; p.T1529I; 4:186628501-186628501

c.12980G>T; p.S4327I; 4:186596560-186596560

c.6876G>C; p.L2292L; 4:186619710-186619710

c.9406G>T; p.E3136*; 4:186613166-186613166

c.11614C>T; p.R3872*; 4:186601295-186601295

c.11465G>T; p.R3822M; 4:186602920-186602920

c.10363G>A; p.V3455M; 4:186604562-186604562

c.6700G>T; p.G2234*; 4:186619886-186619886

c.1966C>T; p.P656S; 4:186707862-186707862

c.6867G>T; p.A2289A; 4:186619719-186619719

c.9215T>C; p.L3072P; 4:186614205-186614205

c.4371T>A; p.S1457S; 4:186628716-186628716

c.5979C>T; p.T1993T; 4:186620607-186620607

c.11306T>C; p.F3769S; 4:186603220-186603220

c.3672delC; p.K1225fs*9; 4:186636885-186636885

c.13746C>T; p.S4582S; 4:186588613-186588613

c.9633T>G; p.T3211T; 4:186611606-186611606

c.12089C>T; p.P4030L; 4:186599912-186599912

c.3574A>T; p.K1192*; 4:186663305-186663305

c.679C>T; p.R227C; 4:186709149-186709149

c.679C>T; p.R227C; 4:186709149-186709149

c.11291C>A; p.T3764K; 4:186603235-186603235

c.10791C>A; p.G3597G; 4:186603735-186603735

c.11771G>A; p.R3924H; 4:186600230-186600230

c.4409C>T; p.A1470V; 4:186628678-186628678

c.9949G>A; p.D3317N; 4:186609920-186609920

c.679C>T; p.R227C; 4:186709149-186709149

c.9076-1G>C; p.?; 4:186614345-186614345

c.10906C>T; p.Q3636*; 4:186603620-186603620

c.9826_9827GG>TT; p.G3276>?; 4:186611412-186611413

c.11370C>T; p.V3790V; 4:186603015-186603015

c.6047T>G; p.I2016S; 4:186620539-186620539

c.9683delC; p.P3228fs*42; 4:186611556-186611556

c.11552T>C; p.L3851S; 4:186601357-186601357

c.7113C>T; p.S2371S; 4:186619473-186619473

c.773C>A; p.T258K; 4:186709055-186709055

c.3131A>G; p.K1044R; 4:186706697-186706697

c.8604G>T; p.W2868C; 4:186617982-186617982

c.8604G>T; p.W2868C; 4:186617982-186617982

c.3308C>T; p.S1103F; 4:186663571-186663571

c.13476T>A; p.N4492K; 4:186588883-186588883

c.10020C>A; p.Y3340*; 4:186609849-186609849

c.3455C>A; p.S1152Y; 4:186663424-186663424

c.7154A>T; p.D2385V; 4:186619432-186619432

c.3186C>T; p.D1062D; 4:186706642-186706642

c.4791_4792insTG; p.L1598fs*15; 4:186628172-186628173

c.10499C>T; p.S3500L; 4:186604426-186604426

c.3186C>T; p.D1062D; 4:186706642-186706642

c.3186C>T; p.D1062D; 4:186706642-186706642

c.4791_4792insTG; p.L1598fs*15; 4:186628172-186628173

c.2461G>A; p.E821K; 4:186707367-186707367

c.7035C>T; p.L2345L; 4:186619551-186619551

c.5757C>T; p.T1919T; 4:186620829-186620829

c.709A>T; p.I237F; 4:186709119-186709119

c.5757C>T; p.T1919T; 4:186620829-186620829

c.9358G>T; p.D3120Y; 4:186613214-186613214

c.5679C>A; p.Y1893*; 4:186620907-186620907

c.12544G>T; p.G4182*; 4:186596996-186596996

c.2461G>A; p.E821K; 4:186707367-186707367

c.2373T>C; p.N791N; 4:186707455-186707455

c.2720T>C; p.L907P; 4:186707108-186707108

c.11759_11767delGAAACTATG; p.G3920_Y3922delGNY; 4:186600234-186600242

c.9293G>C; p.R3098T; 4:186613279-186613279

c.765G>A; p.P255P; 4:186709063-186709063

c.6290G>A; p.G2097D; 4:186620296-186620296

c.5713G>T; p.D1905Y; 4:186620873-186620873

c.13545C>A; p.P4515P; 4:186588814-186588814

c.11611G>A; p.A3871T; 4:186601298-186601298

c.9501T>A; p.S3167S; 4:186611738-186611738

c.13577A>T; p.H4526L; 4:186588782-186588782

c.3503C>T; p.S1168L; 4:186663376-186663376

c.7102C>T; p.P2368S; 4:186619484-186619484

c.3503C>T; p.S1168L; 4:186663376-186663376

c.10993C>T; p.R3665*; 4:186603533-186603533

c.6498G>A; p.A2166A; 4:186620088-186620088

c.3503C>T; p.S1168L; 4:186663376-186663376

c.2153G>T; p.S718I; 4:186707675-186707675

c.4089_4090insT; p.T1364fs*8; 4:186636118-186636119

c.7790G>T; p.R2597L; 4:186618796-186618796

c.3820G>A; p.V1274I; 4:186636737-186636737

c.5383C>T; p.R1795*; 4:186621203-186621203

c.5383C>T; p.R1795*; 4:186621203-186621203

c.1378C>T; p.P460S; 4:186708450-186708450

c.3820G>A; p.V1274I; 4:186636737-186636737

c.8798_8799insC; p.Q2933fs*14; 4:186617787-186617788

c.8363A>C; p.E2788A; 4:186618223-186618223

c.4312A>G; p.I1438V; 4:186633695-186633695

c.10479G>T; p.P3493P; 4:186604446-186604446

c.6111G>A; p.T2037T; 4:186620475-186620475

c.6111G>A; p.T2037T; 4:186620475-186620475

c.5941C>T; p.Q1981*; 4:186620645-186620645

c.13120G>A; p.E4374K; 4:186595707-186595707

c.7359C>G; p.H2453Q; 4:186619227-186619227

c.13269C>A; p.D4423E; 4:186589090-186589090

c.6867G>A; p.A2289A; 4:186619719-186619719

c.6086C>A; p.S2029*; 4:186620500-186620500

c.4660G>A; p.D1554N; 4:186628304-186628304

c.316G>A; p.A106T; 4:186709512-186709512

c.10195G>A; p.D3399N; 4:186609194-186609194

c.3190A>G; p.R1064G; 4:186706638-186706638

c.4183+2T>C; p.?; 4:186636023-186636023

c.11787A>C; p.Q3929H; 4:186600214-186600214

c.8728G>A; p.D2910N; 4:186617858-186617858

c.10268C>T; p.T3423M; 4:186606152-186606152

c.5272G>C; p.E1758Q; 4:186621314-186621314

c.357A>G; p.I119M; 4:186709471-186709471

c.10120A>G; p.I3374V; 4:186609269-186609269

c.12622C>T; p.R4208W; 4:186596918-186596918

c.6952A>T; p.I2318F; 4:186619634-186619634

c.5196T>G; p.I1732M; 4:186621390-186621390

c.12608G>A; p.R4203H; 4:186596932-186596932

c.5004A>G; p.T1668T; 4:186621582-186621582

c.11202C>G; p.F3734L; 4:186603324-186603324

c.7845C>T; p.V2615V; 4:186618741-186618741

c.12992A>G; p.D4331G; 4:186596548-186596548

c.3487G>T; p.A1163S; 4:186663392-186663392

c.9536G>T; p.G3179V; 4:186611703-186611703

c.4803C>T; p.I1601I; 4:186628161-186628161

c.5455T>A; p.Y1819N; 4:186621131-186621131

c.3487G>T; p.A1163S; 4:186663392-186663392

c.5958G>A; p.A1986A; 4:186620628-186620628

c.10308C>T; p.N3436N; 4:186606112-186606112

c.10677_10678insT; p.S3560fs*17; 4:186603848-186603849

c.10308C>T; p.N3436N; 4:186606112-186606112

c.1068T>G; p.T356T; 4:186708760-186708760

c.11598G>T; p.A3866A; 4:186601311-186601311

c.11120C>G; p.S3707*; 4:186603406-186603406

c.7409delG; p.G2470fs*11; 4:186619177-186619177

c.13101T>C; p.S4367S; 4:186595726-186595726

c.9198T>G; p.G3066G; 4:186614222-186614222

c.9425C>T; p.T3142M; 4:186613147-186613147

c.9425C>T; p.T3142M; 4:186613147-186613147

c.2809C>T; p.R937*; 4:186707019-186707019

c.9464-10G>C; p.?; 4:186611785-186611785

c.4434C>A; p.I1478I; 4:186628653-186628653

c.1195A>G; p.R399G; 4:186708633-186708633

c.2809C>T; p.R937*; 4:186707019-186707019

c.6287T>G; p.V2096G; 4:186620299-186620299

c.13023C>A; p.P4341P; 4:186595804-186595804

c.5212C>T; p.Q1738*; 4:186621374-186621374

c.6808G>T; p.D2270Y; 4:186619778-186619778

c.3888G>T; p.E1296D; 4:186636669-186636669

c.3888G>T; p.E1296D; 4:186636669-186636669

c.1582G>T; p.E528*; 4:186708246-186708246

c.6079C>T; p.R2027C; 4:186620507-186620507

c.77G>A; p.R26Q; 4:186709751-186709751

c.3888G>T; p.E1296D; 4:186636669-186636669

c.504C>T; p.I168I; 4:186709324-186709324

c.748G>A; p.A250T; 4:186709080-186709080

c.428A>T; p.N143I; 4:186709400-186709400

c.3874G>T; p.E1292*; 4:186636683-186636683

c.2592C>T; p.D864D; 4:186707236-186707236

c.3562T>G; p.S1188A; 4:186663317-186663317

c.7414T>C; p.F2472L; 4:186619172-186619172

c.7650T>A; p.T2550T; 4:186618936-186618936

c.7086A>T; p.A2362A; 4:186619500-186619500

c.1845T>C; p.F615F; 4:186707983-186707983

c.6179C>T; p.S2060F; 4:186620407-186620407

c.7086A>T; p.A2362A; 4:186619500-186619500

c.6179C>T; p.S2060F; 4:186620407-186620407

c.7472C>A; p.A2491D; 4:186619114-186619114

c.2734G>A; p.V912I; 4:186707094-186707094

c.9958A>T; p.T3320S; 4:186609911-186609911

c.12915G>A; p.A4305A; 4:186596625-186596625

c.2780T>A; p.F927Y; 4:186707048-186707048

c.2734G>A; p.V912I; 4:186707094-186707094

c.2590G>A; p.D864N; 4:186707238-186707238

c.6743C>T; p.P2248L; 4:186619843-186619843

c.9557C>A; p.P3186H; 4:186611682-186611682

c.7382_7383insT; p.S2462fs*3; 4:186619203-186619204

c.152C>A; p.T51N; 4:186709676-186709676

c.6896G>A; p.G2299E; 4:186619690-186619690

c.2734G>A; p.V912I; 4:186707094-186707094

c.4078G>T; p.E1360*; 4:186636130-186636130

c.4057C>A; p.L1353M; 4:186636151-186636151

c.8554C>T; p.Q2852*; 4:186618032-186618032

c.12910G>A; p.V4304M; 4:186596630-186596630

c.12041C>T; p.T4014M; 4:186599960-186599960

c.12434C>T; p.T4145M; 4:186597106-186597106

c.7225G>A; p.V2409M; 4:186619361-186619361

c.4140A>G; p.I1380M; 4:186636068-186636068

c.10678_10679insT; p.S3560fs*17; 4:186603847-186603848

c.7873G>A; p.E2625K; 4:186618713-186618713

c.10326G>A; p.R3442R; 4:186606094-186606094

c.10678_10679insT; p.S3560fs*17; 4:186603847-186603848

c.5328A>G; p.E1776E; 4:186621258-186621258

c.2023G>T; p.E675*; 4:186707805-186707805

c.8678G>A; p.G2893D; 4:186617908-186617908

c.7502T>C; p.L2501P; 4:186619084-186619084

c.10484G>A; p.G3495E; 4:186604441-186604441

c.6923C>T; p.T2308I; 4:186619663-186619663

c.1594C>T; p.R532W; 4:186708234-186708234

c.544G>A; p.G182R; 4:186709284-186709284

c.3706C>T; p.L1236F; 4:186636851-186636851

c.7370T>C; p.L2457P; 4:186619216-186619216

c.544G>A; p.G182R; 4:186709284-186709284

c.4851C>T; p.G1617G; 4:186621735-186621735

c.12515C>A; p.S4172Y; 4:186597025-186597025

c.2278_2285delAATGAGGA; p.N760fs*1; 4:186707543-186707550

c.10187A>C; p.K3396T; 4:186609202-186609202

c.572G>A; p.R191Q; 4:186709256-186709256

c.9568G>T; p.E3190*; 4:186611671-186611671

c.10111C>T; p.H3371Y; 4:186609278-186609278

c.5355A>T; p.L1785L; 4:186621231-186621231

c.1559G>C; p.S520T; 4:186708269-186708269

c.7870G>T; p.D2624Y; 4:186618716-186618716

c.4985A>G; p.N1662S; 4:186621601-186621601

c.7815C>T; p.I2605I; 4:186618771-186618771

c.5355A>T; p.L1785L; 4:186621231-186621231

c.4985A>G; p.N1662S; 4:186621601-186621601

c.11556G>A; p.E3852E; 4:186601353-186601353

c.4985A>G; p.N1662S; 4:186621601-186621601

c.4985A>G; p.N1662S; 4:186621601-186621601

c.10284C>T; p.I3428I; 4:186606136-186606136

c.978C>T; p.D326D; 4:186708850-186708850

c.4985A>G; p.N1662S; 4:186621601-186621601

c.4985A>G; p.N1662S; 4:186621601-186621601

c.4070C>T; p.S1357L; 4:186636138-186636138

c.6939A>C; p.E2313D; 4:186619647-186619647

c.3684T>A; p.I1228I; 4:186636873-186636873

c.3832G>A; p.D1278N; 4:186636725-186636725

c.7179G>T; p.Q2393H; 4:186619407-186619407

c.13556A>C; p.Y4519S; 4:186588803-186588803

c.3054T>C; p.V1018V; 4:186706774-186706774

c.7137C>T; p.D2379D; 4:186619449-186619449

c.2426A>G; p.H809R; 4:186707402-186707402

c.1883G>A; p.R628Q; 4:186707945-186707945

c.7349C>G; p.S2450*; 4:186619237-186619237

c.13725G>C; p.V4575V; 4:186588634-186588634

c.5883C>T; p.G1961G; 4:186620703-186620703

c.229G>C; p.G77R; 4:186709599-186709599

c.2462A>T; p.E821V; 4:186707366-186707366

c.7349C>G; p.S2450*; 4:186619237-186619237

c.7349C>G; p.S2450*; 4:186619237-186619237

c.4221A>G; p.G1407G; 4:186633786-186633786

c.12938delC; p.P4313fs*36; 4:186596602-186596602

c.10614G>T; p.E3538D; 4:186603912-186603912

c.6407C>T; p.S2136L; 4:186620179-186620179

c.12938delC; p.P4313fs*36; 4:186596602-186596602

c.9289G>A; p.V3097I; 4:186613283-186613283

c.8438C>T; p.P2813L; 4:186618148-186618148

c.11428T>C; p.W3810R; 4:186602957-186602957

c.1330A>G; p.K444E; 4:186708498-186708498

c.1197G>A; p.R399R; 4:186708631-186708631

c.42C>G; p.L14L; 4:186709786-186709786

c.13336G>A; p.D4446N; 4:186589023-186589023

c.11111C>T; p.A3704V; 4:186603415-186603415

c.12652G>T; p.D4218Y; 4:186596888-186596888

c.13260C>T; p.I4420I; 4:186589099-186589099

c.12414C>T; p.H4138H; 4:186597126-186597126

c.545G>A; p.G182E; 4:186709283-186709283

c.6611T>C; p.V2204A; 4:186619975-186619975

c.3831C>T; p.T1277T; 4:186636726-186636726

c.2584G>C; p.V862L; 4:186707244-186707244

c.3831C>T; p.T1277T; 4:186636726-186636726

c.3831C>T; p.T1277T; 4:186636726-186636726

c.1526C>T; p.P509L; 4:186708302-186708302

c.8548C>G; p.Q2850E; 4:186618038-186618038

c.3115G>T; p.E1039*; 4:186706713-186706713

c.13000+2T>C; p.?; 4:186596538-186596538

c.7512C>T; p.N2504N; 4:186619074-186619074

c.3115G>T; p.E1039*; 4:186706713-186706713

c.9086C>G; p.S3029*; 4:186614334-186614334

c.11997C>T; p.I3999I; 4:186600004-186600004

c.7110G>T; p.L2370L; 4:186619476-186619476

c.6961C>T; p.Q2321*; 4:186619625-186619625

c.8242G>A; p.D2748N; 4:186618344-186618344

c.7390A>C; p.N2464H; 4:186619196-186619196

c.7390A>C; p.N2464H; 4:186619196-186619196

c.8242G>A; p.D2748N; 4:186618344-186618344

c.6193G>A; p.V2065I; 4:186620393-186620393

c.521C>T; p.T174M; 4:186709307-186709307

c.1120G>T; p.A374S; 4:186708708-186708708

c.4609C>T; p.Q1537*; 4:186628355-186628355

c.7851delA; p.V2618fs*25; 4:186618735-186618735

c.6258C>G; p.Y2086*; 4:186620328-186620328

c.4609C>T; p.Q1537*; 4:186628355-186628355

c.7104delC; p.T2369fs*2; 4:186619482-186619482

c.4348A>C; p.N1450H; 4:186628739-186628739

c.4600-3delT; p.?; 4:186628367-186628367

c.11109T>G; p.S3703R; 4:186603417-186603417

c.842G>T; p.C281F; 4:186708986-186708986

c.7237A>C; p.K2413Q; 4:186619349-186619349

c.7579G>T; p.V2527F; 4:186619007-186619007

c.13544C>T; p.P4515L; 4:186588815-186588815

c.10679C>G; p.S3560*; 4:186603847-186603847

c.8943G>T; p.K2981N; 4:186617137-186617137

c.7960G>A; p.V2654I; 4:186618626-186618626

c.567delA; p.D190fs*14; 4:186709261-186709261

c.740T>C; p.I247T; 4:186709088-186709088

c.1086C>T; p.A362A; 4:186708742-186708742

c.7632G>C; p.E2544D; 4:186618954-186618954

c.11860G>A; p.G3954S; 4:186600141-186600141

c.10207-1G>C; p.?; 4:186606214-186606214

c.5492_5493delCA; p.T1831fs*7; 4:186621093-186621094

c.7662T>G; p.L2554L; 4:186618924-186618924

c.6262G>A; p.A2088T; 4:186620324-186620324

c.2228A>T; p.D743V; 4:186707600-186707600

c.749C>T; p.A250V; 4:186709079-186709079

c.12497C>T; p.A4166V; 4:186597043-186597043

c.1095C>G; p.V365V; 4:186708733-186708733

c.5589G>A; p.A1863A; 4:186620997-186620997

c.6865G>A; p.A2289T; 4:186619721-186619721

c.7887C>T; p.A2629A; 4:186618699-186618699

c.5589G>A; p.A1863A; 4:186620997-186620997

c.2008G>C; p.V670L; 4:186707820-186707820

c.5589G>A; p.A1863A; 4:186620997-186620997

c.4052C>T; p.P1351L; 4:186636156-186636156

c.7372A>T; p.K2458*; 4:186619214-186619214

c.10074_10075insT; p.A3359fs*3; 4:186609314-186609315

c.3776delA; p.K1259fs*17; 4:186636781-186636781

c.8488C>T; p.Q2830*; 4:186618098-186618098

c.1675C>T; p.L559F; 4:186708153-186708153

c.10074_10075insT; p.A3359fs*3; 4:186609314-186609315

c.1985C>T; p.T662I; 4:186707843-186707843

c.3301T>G; p.S1101A; 4:186663578-186663578

c.8649C>G; p.Y2883*; 4:186617937-186617937

c.6512C>T; p.P2171L; 4:186620074-186620074

c.13350G>A; p.P4450P; 4:186589009-186589009

c.6512C>T; p.P2171L; 4:186620074-186620074

c.3596C>T; p.T1199M; 4:186639768-186639768

c.556T>G; p.Y186D; 4:186709272-186709272

c.1303G>T; p.E435*; 4:186708525-186708525

c.7295_7315del21; p.G2432_F2438delGNDHKHF; 4:186619271-186619291

c.9108C>T; p.V3036V; 4:186614312-186614312

c.1977C>G; p.I659M; 4:186707851-186707851

c.10822G>T; p.G3608W; 4:186603704-186603704

c.1667C>T; p.T556I; 4:186708161-186708161

c.8669C>T; p.S2890L; 4:186617917-186617917

c.13412C>T; p.A4471V; 4:186588947-186588947

c.9402G>T; p.V3134V; 4:186613170-186613170

c.12675G>A; p.T4225T; 4:186596865-186596865

c.6793G>A; p.A2265T; 4:186619793-186619793

c.7700G>A; p.R2567H; 4:186618886-186618886

c.12805G>T; p.D4269Y; 4:186596735-186596735

c.742G>A; p.E248K; 4:186709086-186709086

c.12805G>T; p.D4269Y; 4:186596735-186596735

c.9402G>T; p.V3134V; 4:186613170-186613170

c.8591T>C; p.M2864T; 4:186617995-186617995

c.7544A>G; p.K2515R; 4:186619042-186619042

c.8749C>T; p.R2917*; 4:186617837-186617837

c.1444G>C; p.V482L; 4:186708384-186708384

c.8523C>A; p.N2841K; 4:186618063-186618063

c.12709C>T; p.L4237L; 4:186596831-186596831

c.12418G>T; p.A4140S; 4:186597122-186597122

c.7105A>C; p.T2369P; 4:186619481-186619481

c.10982G>T; p.R3661L; 4:186603544-186603544

c.1942A>G; p.T648A; 4:186707886-186707886

c.10518G>T; p.K3506N; 4:186604407-186604407

c.7105A>C; p.T2369P; 4:186619481-186619481

c.12829G>C; p.A4277P; 4:186596711-186596711

c.2574G>A; p.T858T; 4:186707254-186707254

c.9086C>T; p.S3029L; 4:186614334-186614334

c.270C>T; p.L90L; 4:186709558-186709558

c.10677C>G; p.Y3559*; 4:186603849-186603849

c.3191G>T; p.R1064I; 4:186706637-186706637

c.6302G>T; p.R2101L; 4:186620284-186620284

c.11279C>A; p.S3760*; 4:186603247-186603247

c.5471C>T; p.S1824F; 4:186621115-186621115

c.5618A>T; p.N1873I; 4:186620968-186620968

c.11894G>A; p.R3965K; 4:186600107-186600107

c.10981C>T; p.R3661C; 4:186603545-186603545

c.2590G>T; p.D864Y; 4:186707238-186707238

c.7442C>T; p.T2481I; 4:186619144-186619144

c.7358A>G; p.H2453R; 4:186619228-186619228

c.3810G>A; p.P1270P; 4:186636747-186636747

c.10209T>A; p.I3403I; 4:186606211-186606211

c.931G>T; p.G311W; 4:186708897-186708897

c.516C>T; p.S172S; 4:186709312-186709312

c.2684T>C; p.I895T; 4:186707144-186707144

c.2590G>T; p.D864Y; 4:186707238-186707238

c.2764G>A; p.D922N; 4:186707064-186707064

c.4810+2T>C; p.?; 4:186628152-186628152

c.7060C>T; p.R2354W; 4:186619526-186619526

c.2642G>A; p.R881H; 4:186707186-186707186

c.5844C>T; p.Y1948Y; 4:186620742-186620742

c.469T>C; p.S157P; 4:186709359-186709359

c.2642G>A; p.R881H; 4:186707186-186707186

c.4516C>T; p.R1506C; 4:186628571-186628571

c.7324A>T; p.S2442C; 4:186619262-186619262

c.4592C>T; p.T1531M; 4:186628495-186628495

c.7677G>A; p.P2559P; 4:186618909-186618909

c.4564C>T; p.H1522Y; 4:186628523-186628523

c.12435G>T; p.T4145T; 4:186597105-186597105

c.12042G>A; p.T4014T; 4:186599959-186599959

c.9763G>T; p.A3255S; 4:186611476-186611476

c.1654G>A; p.E552K; 4:186708174-186708174

c.8798A>T; p.Q2933L; 4:186617788-186617788

c.4516C>T; p.R1506C; 4:186628571-186628571

c.7677G>A; p.P2559P; 4:186618909-186618909

c.6638A>T; p.K2213I; 4:186619948-186619948

c.9610C>T; p.Q3204*; 4:186611629-186611629

c.13360G>A; p.E4454K; 4:186588999-186588999

c.8761G>A; p.E2921K; 4:186617825-186617825

c.2416C>T; p.R806C; 4:186707412-186707412

c.1594C>A; p.R532R; 4:186708234-186708234

c.5673A>G; p.P1891P; 4:186620913-186620913

c.9698G>C; p.R3233P; 4:186611541-186611541

c.1594C>A; p.R532R; 4:186708234-186708234

c.9610C>T; p.Q3204*; 4:186611629-186611629

c.8088G>A; p.P2696P; 4:186618498-186618498

c.13360G>A; p.E4454K; 4:186588999-186588999

c.10681G>T; p.G3561C; 4:186603845-186603845

c.6312T>C; p.T2104T; 4:186620274-186620274

c.13360G>A; p.E4454K; 4:186588999-186588999

c.13178C>A; p.P4393H; 4:186589181-186589181

c.6745G>A; p.A2249T; 4:186619841-186619841

c.13442G>A; p.R4481Q; 4:186588917-186588917

c.1536T>C; p.I512I; 4:186708292-186708292

c.10438A>G; p.I3480V; 4:186604487-186604487

c.7770T>G; p.N2590K; 4:186618816-186618816

c.7846G>A; p.V2616I; 4:186618740-186618740

c.2979G>T; p.K993N; 4:186706849-186706849

c.10208T>G; p.I3403S; 4:186606212-186606212

c.5424A>G; p.V1808V; 4:186621162-186621162

c.12867C>T; p.P4289P; 4:186596673-186596673

c.13129G>A; p.D4377N; 4:186595698-186595698

c.1212T>G; p.S404R; 4:186708616-186708616

c.1002C>G; p.L334L; 4:186708826-186708826

c.1212T>G; p.S404R; 4:186708616-186708616

c.9185T>C; p.L3062S; 4:186614235-186614235

c.5980G>A; p.E1994K; 4:186620606-186620606

c.13510A>G; p.K4504E; 4:186588849-186588849

c.7912G>A; p.D2638N; 4:186618674-186618674

c.4680G>A; p.P1560P; 4:186628284-186628284

c.12030C>T; p.F4010F; 4:186599971-186599971

c.1622C>G; p.S541*; 4:186708206-186708206

c.4680G>A; p.P1560P; 4:186628284-186628284

c.790C>A; p.P264T; 4:186709038-186709038

c.10747G>A; p.D3583N; 4:186603779-186603779

c.6558C>G; p.F2186L; 4:186620028-186620028

c.12334G>A; p.V4112I; 4:186597716-186597716

c.7979G>T; p.S2660I; 4:186618607-186618607

c.4945G>T; p.E1649*; 4:186621641-186621641

c.8995A>T; p.T2999S; 4:186617085-186617085

c.2860C>T; p.P954S; 4:186706968-186706968

c.4797C>G; p.Y1599*; 4:186628167-186628167

c.8995A>T; p.T2999S; 4:186617085-186617085

c.1644_1645insT; p.R549fs*13; 4:186708183-186708184

c.11244C>T; p.C3748C; 4:186603282-186603282

c.235_236delAG; p.S79fs*1; 4:186709592-186709593

c.10759G>T; p.D3587Y; 4:186603767-186603767

c.2780T>G; p.F927C; 4:186707048-186707048

c.4900G>T; p.D1634Y; 4:186621686-186621686

c.3125C>T; p.T1042I; 4:186706703-186706703

c.4412delC; p.P1471fs*19; 4:186628675-186628675

c.4706G>A; p.G1569E; 4:186628258-186628258

c.1905T>G; p.G635G; 4:186707923-186707923

c.7381T>C; p.Y2461H; 4:186619205-186619205

c.9557C>T; p.P3186L; 4:186611682-186611682

c.13409C>T; p.A4470V; 4:186588950-186588950

c.12128T>A; p.L4043*; 4:186598101-186598101

c.8829G>A; p.T2943T; 4:186617757-186617757

c.9326C>T; p.A3109V; 4:186613246-186613246

c.7103C>T; p.P2368L; 4:186619483-186619483

c.7069A>C; p.T2357P; 4:186619517-186619517

c.7675C>T; p.P2559S; 4:186618911-186618911

c.6263C>T; p.A2088V; 4:186620323-186620323

c.9187T>C; p.L3063L; 4:186614233-186614233

c.13255G>A; p.A4419T; 4:186589104-186589104

c.11875C>T; p.Q3959*; 4:186600126-186600126

c.2930A>G; p.D977G; 4:186706898-186706898

c.12846C>T; p.P4282P; 4:186596694-186596694

c.11591C>T; p.T3864M; 4:186601318-186601318

c.11591C>T; p.T3864M; 4:186601318-186601318

c.2011A>C; p.N671H; 4:186707817-186707817

c.6848_6853delTTGCTC; p.F2283_Q2285>*; 4:186619733-186619738

c.517G>A; p.A173T; 4:186709311-186709311

c.11394G>A; p.P3798P; 4:186602991-186602991

c.8760C>T; p.A2920A; 4:186617826-186617826

c.5845G>T; p.E1949*; 4:186620741-186620741

c.517G>A; p.A173T; 4:186709311-186709311

c.12838G>C; p.E4280Q; 4:186596702-186596702

c.5055C>T; p.F1685F; 4:186621531-186621531

c.12819C>A; p.F4273L; 4:186596721-186596721

c.5284G>A; p.A1762T; 4:186621302-186621302

c.7871A>G; p.D2624G; 4:186618715-186618715

c.2641C>T; p.R881C; 4:186707187-186707187

c.4694C>T; p.S1565F; 4:186628270-186628270

c.6699T>C; p.T2233T; 4:186619887-186619887

c.6839C>G; p.P2280R; 4:186619747-186619747

c.7207G>A; p.A2403T; 4:186619379-186619379

c.8860G>A; p.V2954I; 4:186617726-186617726

c.4529C>A; p.A1510E; 4:186628558-186628558

c.4529C>A; p.A1510E; 4:186628558-186628558

c.11318G>A; p.R3773H; 4:186603208-186603208

c.11318G>A; p.R3773H; 4:186603208-186603208

c.12879C>T; p.H4293H; 4:186596661-186596661

c.3502T>G; p.S1168A; 4:186663377-186663377

c.4679C>G; p.P1560R; 4:186628285-186628285

c.12042G>C; p.T4014T; 4:186599959-186599959

c.8736C>T; p.N2912N; 4:186617850-186617850

c.10841T>C; p.V3614A; 4:186603685-186603685

c.4440T>C; p.A1480A; 4:186628647-186628647

c.1009C>T; p.Q337*; 4:186708819-186708819

c.4511A>C; p.K1504T; 4:186628576-186628576

c.10709C>T; p.T3570I; 4:186603817-186603817

c.1425C>A; p.N475K; 4:186708403-186708403

c.7634G>A; p.R2545K; 4:186618952-186618952

c.4203C>T; p.H1401H; 4:186633804-186633804

c.13200C>T; p.F4400F; 4:186589159-186589159

c.9689T>C; p.F3230S; 4:186611550-186611550

c.9526G>A; p.E3176K; 4:186611713-186611713

c.13620C>T; p.Y4540Y; 4:186588739-186588739

c.8495G>C; p.R2832T; 4:186618091-186618091

c.7666C>T; p.R2556*; 4:186618920-186618920

c.713G>A; p.S238N; 4:186709115-186709115

c.6691T>G; p.F2231V; 4:186619895-186619895

c.9905A>T; p.Y3302F; 4:186609964-186609964

c.6691T>G; p.F2231V; 4:186619895-186619895

c.2090G>T; p.G697V; 4:186707738-186707738

c.10452T>G; p.N3484K; 4:186604473-186604473

c.4879C>T; p.R1627*; 4:186621707-186621707

c.46C>T; p.Q16*; 4:186709782-186709782

c.2833G>A; p.V945I; 4:186706995-186706995

c.12258G>C; p.R4086S; 4:186597792-186597792

c.5496A>G; p.V1832V; 4:186621090-186621090

c.2638G>A; p.A880T; 4:186707190-186707190

c.2865T>G; p.D955E; 4:186706963-186706963

c.10044C>T; p.A3348A; 4:186609825-186609825

c.11946G>C; p.L3982F; 4:186600055-186600055

c.9165C>T; p.N3055N; 4:186614255-186614255

c.13354C>A; p.P4452T; 4:186589005-186589005

c.9165C>T; p.N3055N; 4:186614255-186614255

c.5220_5223delTAAC; p.N1741fs*11; 4:186621363-186621366

c.8176C>T; p.R2726*; 4:186618410-186618410

c.13505A>G; p.Q4502R; 4:186588854-186588854

c.10720G>A; p.V3574M; 4:186603806-186603806

c.2188C>T; p.Q730*; 4:186707640-186707640

c.1701T>G; p.P567P; 4:186708127-186708127

c.11473C>T; p.Q3825*; 4:186602912-186602912

c.4616T>C; p.V1539A; 4:186628348-186628348

c.4723G>T; p.A1575S; 4:186628241-186628241

c.543C>T; p.N181N; 4:186709285-186709285

c.9370G>A; p.E3124K; 4:186613202-186613202

c.392C>T; p.A131V; 4:186709436-186709436

c.2506G>T; p.E836*; 4:186707322-186707322

c.4963A>G; p.I1655V; 4:186621623-186621623

c.6404T>A; p.I2135N; 4:186620182-186620182

c.5376G>A; p.L1792L; 4:186621210-186621210

c.13359C>A; p.P4453P; 4:186589000-186589000

c.2643C>T; p.R881R; 4:186707185-186707185

c.4782T>G; p.N1594K; 4:186628182-186628182

c.13177C>T; p.P4393S; 4:186589182-186589182

c.11742G>T; p.V3914V; 4:186600259-186600259

c.5011G>T; p.E1671*; 4:186621575-186621575

c.8911A>G; p.T2971A; 4:186617169-186617169

c.9769C>T; p.R3257W; 4:186611470-186611470

c.1523T>C; p.V508A; 4:186708305-186708305

c.4442T>C; p.V1481A; 4:186628645-186628645

c.5827C>T; p.Q1943*; 4:186620759-186620759

c.7105A>T; p.T2369S; 4:186619481-186619481

c.5827C>T; p.Q1943*; 4:186620759-186620759

c.9769C>T; p.R3257W; 4:186611470-186611470

c.3676T>C; p.S1226P; 4:186636881-186636881

c.4790_4791insTG; p.L1598fs*15; 4:186628173-186628174

c.13208A>G; p.Y4403C; 4:186589151-186589151

c.10750C>T; p.P3584S; 4:186603776-186603776

c.8208C>G; p.S2736R; 4:186618378-186618378

c.6445G>A; p.E2149K; 4:186620141-186620141

c.404T>C; p.V135A; 4:186709424-186709424

c.2955C>T; p.I985I; 4:186706873-186706873

c.13384A>G; p.I4462V; 4:186588975-186588975

c.2821C>T; p.P941S; 4:186707007-186707007

c.8879-1G>A; p.?; 4:186617202-186617202

c.5866G>A; p.D1956N; 4:186620720-186620720

c.2955C>T; p.I985I; 4:186706873-186706873

c.8209C>A; p.L2737M; 4:186618377-186618377

c.2955C>T; p.I985I; 4:186706873-186706873

c.10770C>A; p.F3590L; 4:186603756-186603756

c.10468G>A; p.E3490K; 4:186604457-186604457

c.7429C>A; p.Q2477K; 4:186619157-186619157

c.5257G>T; p.V1753F; 4:186621329-186621329

c.8656A>T; p.K2886*; 4:186617930-186617930

c.12440G>A; p.G4147D; 4:186597100-186597100

c.3303G>A; p.S1101S; 4:186663576-186663576

c.6929C>T; p.S2310F; 4:186619657-186619657

c.5084C>T; p.S1695L; 4:186621502-186621502

c.5231G>A; p.G1744D; 4:186621355-186621355

c.10570C>T; p.Q3524*; 4:186603956-186603956

c.5630_5631insC; p.V1878fs*8; 4:186620955-186620956

c.1967C>T; p.P656L; 4:186707861-186707861

c.6024C>G; p.I2008M; 4:186620562-186620562

c.5155A>G; p.I1719V; 4:186621431-186621431

c.5630_5631insC; p.V1878fs*8; 4:186620955-186620956

c.5630_5631insC; p.V1878fs*8; 4:186620955-186620956

c.10689C>T; p.V3563V; 4:186603837-186603837

c.13136A>G; p.N4379S; 4:186595691-186595691

c.9907C>G; p.L3303V; 4:186609962-186609962

c.11833A>G; p.N3945D; 4:186600168-186600168

c.4193A>T; p.Y1398F; 4:186633814-186633814

c.1643_1644insA; p.R549fs*13; 4:186708184-186708185

c.1637C>G; p.P546R; 4:186708191-186708191

c.2129A>G; p.N710S; 4:186707699-186707699

c.3439G>T; p.E1147*; 4:186663440-186663440

c.3439G>T; p.E1147*; 4:186663440-186663440

c.10510A>T; p.K3504*; 4:186604415-186604415

c.13601G>T; p.S4534I; 4:186588758-186588758

c.3439G>T; p.E1147*; 4:186663440-186663440

c.6209T>A; p.I2070N; 4:186620377-186620377

c.4648G>A; p.V1550I; 4:186628316-186628316

c.7816G>A; p.G2606R; 4:186618770-186618770

c.1156G>T; p.V386L; 4:186708672-186708672

c.9002G>A; p.G3001D; 4:186617078-186617078

c.7549A>C; p.T2517P; 4:186619037-186619037

c.8050G>T; p.E2684*; 4:186618536-186618536

c.12031C>T; p.L4011L; 4:186599970-186599970

c.801G>T; p.L267L; 4:186709027-186709027

c.3849C>T; p.P1283P; 4:186636708-186636708

c.6302G>A; p.R2101H; 4:186620284-186620284

c.8573A>C; p.E2858A; 4:186618013-186618013

c.3756C>T; p.I1252I; 4:186636801-186636801

c.10937G>T; p.R3646L; 4:186603589-186603589

c.555C>A; p.Y185*; 4:186709273-186709273

c.2615G>A; p.S872N; 4:186707213-186707213

c.6302G>A; p.R2101H; 4:186620284-186620284

c.9288C>T; p.L3096L; 4:186613284-186613284

c.6607C>T; p.H2203Y; 4:186619979-186619979

c.9925G>A; p.D3309N; 4:186609944-186609944

c.8292G>C; p.K2764N; 4:186618294-186618294

c.3919G>T; p.G1307*; 4:186636638-186636638

c.3014_3036del23; p.D1005fs*7; 4:186706792-186706814

c.631_634delGATT; p.D211fs*2; 4:186709194-186709197

c.10737C>A; p.T3579T; 4:186603789-186603789

c.3626A>T; p.D1209V; 4:186639738-186639738

c.6087A>G; p.S2029S; 4:186620499-186620499

c.10207-1G>T; p.?; 4:186606214-186606214

c.11577C>T; p.L3859L; 4:186601332-186601332

c.9619C>G; p.P3207A; 4:186611620-186611620

c.3762_3763insACTC; p.P1255fs*3; 4:186636794-186636795

c.13560G>C; p.P4520P; 4:186588799-186588799

c.6722C>A; p.P2241H; 4:186619864-186619864

c.7803C>T; p.Y2601Y; 4:186618783-186618783

c.8087C>T; p.P2696L; 4:186618499-186618499

c.11902C>T; p.Q3968*; 4:186600099-186600099

c.13698C>T; p.S4566S; 4:186588661-186588661

c.5494G>A; p.V1832I; 4:186621092-186621092

c.11902C>T; p.Q3968*; 4:186600099-186600099

c.12307A>C; p.T4103P; 4:186597743-186597743

c.6450T>C; p.Y2150Y; 4:186620136-186620136

c.13698C>T; p.S4566S; 4:186588661-186588661

c.3296G>C; p.R1099P; 4:186663583-186663583

c.8756C>T; p.T2919M; 4:186617830-186617830

c.1882C>T; p.R628*; 4:186707946-186707946

c.12936C>T; p.P4312P; 4:186596604-186596604

c.6197T>C; p.V2066A; 4:186620389-186620389

c.13704C>T; p.D4568D; 4:186588655-186588655

c.2075A>C; p.K692T; 4:186707753-186707753

c.11914G>C; p.G3972R; 4:186600087-186600087

c.3946G>A; p.A1316T; 4:186636611-186636611

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c.12936C>T; p.P4312P; 4:186596604-186596604

c.1815G>T; p.Q605H; 4:186708013-186708013

c.10315G>A; p.V3439I; 4:186606105-186606105

c.973T>C; p.W325R; 4:186708855-186708855

c.9014C>G; p.S3005*; 4:186617066-186617066

c.9033G>A; p.V3011V; 4:186617047-186617047

c.9014C>G; p.S3005*; 4:186617066-186617066

c.9014C>G; p.S3005*; 4:186617066-186617066

c.11708G>C; p.S3903T; 4:186600293-186600293

c.1562C>T; p.T521M; 4:186708266-186708266

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c.4004A>C; p.K1335T; 4:186636204-186636204

c.10458G>C; p.E3486D; 4:186604467-186604467

c.11024G>T; p.R3675M; 4:186603502-186603502

c.8829G>T; p.T2943T; 4:186617757-186617757

c.10809A>C; p.K3603N; 4:186603717-186603717

c.13450T>C; p.F4484L; 4:186588909-186588909

c.733G>A; p.V245M; 4:186709095-186709095

c.3213C>T; p.Y1071Y; 4:186706615-186706615

c.11453G>A; p.C3818Y; 4:186602932-186602932

c.7534delA; p.M2512fs*3; 4:186619052-186619052

c.10355A>T; p.N3452I; 4:186604570-186604570

c.5723C>A; p.S1908*; 4:186620863-186620863

c.5975C>T; p.S1992F; 4:186620611-186620611

c.7833A>C; p.K2611N; 4:186618753-186618753

c.4357C>T; p.R1453C; 4:186628730-186628730

c.10889A>G; p.H3630R; 4:186603637-186603637

c.5723C>A; p.S1908*; 4:186620863-186620863

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c.8624T>C; p.L2875P; 4:186617962-186617962

c.4799C>G; p.S1600W; 4:186628165-186628165

c.10416C>T; p.N3472N; 4:186604509-186604509

c.7540G>A; p.V2514M; 4:186619046-186619046

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c.1539C>A; p.D513E; 4:186708289-186708289

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c.11998G>A; p.E4000K; 4:186600003-186600003

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c.6485C>T; p.P2162L; 4:186620101-186620101

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c.7535T>C; p.M2512T; 4:186619051-186619051

c.2903A>G; p.D968G; 4:186706925-186706925

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c.7526C>T; p.T2509I; 4:186619060-186619060

c.9210C>T; p.F3070F; 4:186614210-186614210

c.8669C>G; p.S2890*; 4:186617917-186617917

c.12641C>A; p.A4214D; 4:186596899-186596899

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c.3621G>A; p.Q1207Q; 4:186639743-186639743

c.12816C>T; p.S4272S; 4:186596724-186596724

c.12791C>A; p.S4264*; 4:186596749-186596749

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c.13540G>T; p.E4514*; 4:186588819-186588819

c.10074G>A; p.M3358I; 4:186609315-186609315

c.1778C>A; p.A593D; 4:186708050-186708050

c.3808C>G; p.P1270A; 4:186636749-186636749

c.7866T>A; p.D2622E; 4:186618720-186618720

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c.12164C>T; p.P4055L; 4:186598065-186598065

c.10074G>A; p.M3358I; 4:186609315-186609315

c.13619A>T; p.Y4540F; 4:186588740-186588740

c.11467T>G; p.F3823V; 4:186602918-186602918

c.4723G>A; p.A1575T; 4:186628241-186628241

c.6866C>T; p.A2289V; 4:186619720-186619720

c.6866C>T; p.A2289V; 4:186619720-186619720

c.807G>T; p.R269S; 4:186709021-186709021

c.13233C>T; p.P4411P; 4:186589126-186589126

c.13233C>T; p.P4411P; 4:186589126-186589126

c.13233C>T; p.P4411P; 4:186589126-186589126

c.9400G>T; p.V3134L; 4:186613172-186613172

c.4258G>T; p.E1420*; 4:186633749-186633749

c.7366G>A; p.A2456T; 4:186619220-186619220

c.11567C>T; p.T3856I; 4:186601342-186601342

c.8421G>A; p.P2807P; 4:186618165-186618165

c.3785G>A; p.R1262Q; 4:186636772-186636772

c.9830A>C; p.K3277T; 4:186611409-186611409

c.7366G>A; p.A2456T; 4:186619220-186619220

c.7366G>A; p.A2456T; 4:186619220-186619220

c.5630C>A; p.P1877H; 4:186620956-186620956

c.11567C>T; p.T3856I; 4:186601342-186601342

c.3785G>A; p.R1262Q; 4:186636772-186636772

c.9574C>T; p.Q3192*; 4:186611665-186611665

c.10876G>A; p.D3626N; 4:186603650-186603650

c.7366G>A; p.A2456T; 4:186619220-186619220

c.13716C>T; p.F4572F; 4:186588643-186588643

c.12791C>G; p.S4264*; 4:186596749-186596749

c.3349G>T; p.V1117L; 4:186663530-186663530

c.5561C>G; p.T1854S; 4:186621025-186621025

c.2392G>T; p.G798W; 4:186707436-186707436

c.1485C>T; p.N495N; 4:186708343-186708343

c.3349G>T; p.V1117L; 4:186663530-186663530

c.1485C>T; p.N495N; 4:186708343-186708343

c.1485C>T; p.N495N; 4:186708343-186708343

c.9932G>A; p.G3311D; 4:186609937-186609937

c.9867C>T; p.I3289I; 4:186610002-186610002

c.7144G>A; p.D2382N; 4:186619442-186619442

c.1954A>C; p.N652H; 4:186707874-186707874

c.1220G>A; p.G407E; 4:186708608-186708608

c.12730G>C; p.D4244H; 4:186596810-186596810

c.9179A>G; p.Y3060C; 4:186614241-186614241

c.1130_1131insA; p.S377fs*2; 4:186708697-186708698

c.3013G>A; p.D1005N; 4:186706815-186706815

c.7144G>A; p.D2382N; 4:186619442-186619442

c.8727C>T; p.T2909T; 4:186617859-186617859

c.4620T>C; p.P1540P; 4:186628344-186628344

c.4880G>A; p.R1627Q; 4:186621706-186621706

c.4206C>T; p.F1402F; 4:186633801-186633801

c.4880G>A; p.R1627Q; 4:186621706-186621706

c.4206C>T; p.F1402F; 4:186633801-186633801

c.4880G>A; p.R1627Q; 4:186621706-186621706

c.6740A>G; p.H2247R; 4:186619846-186619846

c.10197_10198CC>TT; p.R3400*; 4:186609191-186609192

c.4206C>T; p.F1402F; 4:186633801-186633801

c.8727C>T; p.T2909T; 4:186617859-186617859

c.3938G>A; p.R1313K; 4:186636619-186636619

c.547G>A; p.E183K; 4:186709281-186709281

c.4116C>A; p.P1372P; 4:186636092-186636092

c.12046G>C; p.D4016H; 4:186599955-186599955

c.13139G>T; p.G4380V; 4:186589220-186589220

c.9137C>T; p.S3046F; 4:186614283-186614283

c.2439C>T; p.V813V; 4:186707389-186707389

c.10798A>G; p.I3600V; 4:186603728-186603728

c.2439C>T; p.V813V; 4:186707389-186707389

c.12325G>T; p.D4109Y; 4:186597725-186597725

c.2483T>G; p.F828C; 4:186707345-186707345

c.3443T>C; p.I1148T; 4:186663436-186663436

c.394C>T; p.R132*; 4:186709434-186709434

c.7349C>T; p.S2450L; 4:186619237-186619237

c.12288A>C; p.E4096D; 4:186597762-186597762

c.7850A>T; p.K2617I; 4:186618736-186618736

c.13408G>A; p.A4470T; 4:186588951-186588951

c.9658G>A; p.V3220I; 4:186611581-186611581

c.8350C>T; p.Q2784*; 4:186618236-186618236

c.4939_4940delAT; p.M1647fs*2; 4:186621646-186621647

c.9105C>T; p.D3035D; 4:186614315-186614315

c.7332A>C; p.T2444T; 4:186619254-186619254

c.4684T>G; p.F1562V; 4:186628280-186628280

c.10849A>G; p.T3617A; 4:186603677-186603677

c.6602T>C; p.V2201A; 4:186619984-186619984

c.4429C>T; p.Q1477*; 4:186628658-186628658

c.9358G>A; p.D3120N; 4:186613214-186613214

c.11043T>C; p.V3681V; 4:186603483-186603483

c.10162G>A; p.V3388I; 4:186609227-186609227

c.9358G>A; p.D3120N; 4:186613214-186613214

c.4381T>A; p.Y1461N; 4:186628706-186628706

c.9358G>A; p.D3120N; 4:186613214-186613214

c.10162G>A; p.V3388I; 4:186609227-186609227

c.10162G>A; p.V3388I; 4:186609227-186609227

c.9229+1G>C; p.?; 4:186614190-186614190

c.9229+1G>C; p.?; 4:186614190-186614190

c.9539T>G; p.I3180S; 4:186611700-186611700

c.8272G>A; p.G2758R; 4:186618314-186618314

c.1043C>A; p.S348Y; 4:186708785-186708785

c.2259C>T; p.V753V; 4:186707569-186707569

c.9325G>A; p.A3109T; 4:186613247-186613247

c.3888G>A; p.E1296E; 4:186636669-186636669

c.10351G>A; p.E3451K; 4:186604574-186604574

c.12215G>T; p.G4072V; 4:186598014-186598014

c.7508A>T; p.E2503V; 4:186619078-186619078

c.3869G>T; p.S1290I; 4:186636688-186636688

c.9484T>C; p.Y3162H; 4:186611755-186611755

c.6722C>T; p.P2241L; 4:186619864-186619864

c.6822C>G; p.D2274E; 4:186619764-186619764

c.1643G>A; p.R548H; 4:186708185-186708185

c.6822C>G; p.D2274E; 4:186619764-186619764

c.2468T>A; p.L823*; 4:186707360-186707360

c.10314C>T; p.P3438P; 4:186606106-186606106

c.9731T>A; p.L3244H; 4:186611508-186611508

c.12877C>T; p.H4293Y; 4:186596663-186596663

c.9731T>A; p.L3244H; 4:186611508-186611508

c.8134G>C; p.V2712L; 4:186618452-186618452

c.9752A>C; p.Q3251P; 4:186611487-186611487

c.10478C>T; p.P3493L; 4:186604447-186604447

c.6628G>T; p.E2210*; 4:186619958-186619958

c.9752A>C; p.Q3251P; 4:186611487-186611487

c.13321G>T; p.D4441Y; 4:186589038-186589038

c.3625delG; p.D1209fs*5; 4:186639739-186639739

c.5743A>T; p.I1915F; 4:186620843-186620843

c.9752A>C; p.Q3251P; 4:186611487-186611487

c.9183G>A; p.T3061T; 4:186614237-186614237

c.11120C>A; p.S3707*; 4:186603406-186603406

c.9341C>T; p.T3114M; 4:186613231-186613231

c.10001T>C; p.V3334A; 4:186609868-186609868

c.11640_11640+1GG>AA; p.?; 4:186601268-186601269

c.1582G>A; p.E528K; 4:186708246-186708246

c.10001T>C; p.V3334A; 4:186609868-186609868

c.10001T>C; p.V3334A; 4:186609868-186609868

c.10001T>C; p.V3334A; 4:186609868-186609868

c.7959C>T; p.G2653G; 4:186618627-186618627

c.6640G>C; p.V2214L; 4:186619946-186619946

c.12126C>A; p.A4042A; 4:186598103-186598103

c.13717G>A; p.E4573K; 4:186588642-186588642

c.6912A>C; p.Q2304H; 4:186619674-186619674

c.7062G>A; p.R2354R; 4:186619524-186619524

c.12037G>A; p.A4013T; 4:186599964-186599964

c.3743A>G; p.K1248R; 4:186636814-186636814

c.8788G>T; p.D2930Y; 4:186617798-186617798

c.7476C>T; p.F2492F; 4:186619110-186619110

c.11105G>A; p.G3702D; 4:186603421-186603421

c.12021A>G; p.P4007P; 4:186599980-186599980

c.12037G>A; p.A4013T; 4:186599964-186599964

c.7439T>C; p.V2480A; 4:186619147-186619147

c.8611A>C; p.T2871P; 4:186617975-186617975

c.6147G>T; p.V2049V; 4:186620439-186620439

c.4892C>T; p.A1631V; 4:186621694-186621694

c.11641-1G>C; p.?; 4:186600361-186600361

c.461A>G; p.Y154C; 4:186709367-186709367

c.2804A>G; p.K935R; 4:186707024-186707024

c.11489C>A; p.S3830*; 4:186601420-186601420

c.11489C>A; p.S3830*; 4:186601420-186601420

c.4892C>T; p.A1631V; 4:186621694-186621694

c.1471G>A; p.D491N; 4:186708357-186708357

c.5515G>T; p.E1839*; 4:186621071-186621071

c.1471G>A; p.D491N; 4:186708357-186708357

c.12819C>T; p.F4273F; 4:186596721-186596721

c.363delA; p.A122fs*24; 4:186709465-186709465

c.11003G>A; p.R3668Q; 4:186603523-186603523

c.5865C>T; p.S1955S; 4:186620721-186620721

c.9351T>C; p.D3117D; 4:186613221-186613221

c.10067C>T; p.T3356M; 4:186609802-186609802

c.4961G>A; p.R1654H; 4:186621625-186621625

c.966C>T; p.G322G; 4:186708862-186708862

c.10067C>T; p.T3356M; 4:186609802-186609802

c.3234C>T; p.G1078G; 4:186706594-186706594

c.11738C>T; p.A3913V; 4:186600263-186600263

c.12774G>A; p.P4258P; 4:186596766-186596766

c.11738C>T; p.A3913V; 4:186600263-186600263

c.142G>A; p.A48T; 4:186709686-186709686

c.13039C>T; p.P4347S; 4:186595788-186595788

c.6766G>A; p.A2256T; 4:186619820-186619820

c.11028C>T; p.N3676N; 4:186603498-186603498

c.6828C>G; p.I2276M; 4:186619758-186619758

c.1373G>A; p.S458N; 4:186708455-186708455

c.9003C>T; p.G3001G; 4:186617077-186617077

c.734T>C; p.V245A; 4:186709094-186709094

c.6766G>A; p.A2256T; 4:186619820-186619820

c.12103G>A; p.G4035S; 4:186599898-186599898

c.9957C>T; p.A3319A; 4:186609912-186609912

c.8050G>A; p.E2684K; 4:186618536-186618536

c.12868G>A; p.E4290K; 4:186596672-186596672

c.430G>T; p.D144Y; 4:186709398-186709398

c.1973_1974insT; p.I659fs*17; 4:186707854-186707855

c.2616C>T; p.S872S; 4:186707212-186707212

c.6188C>T; p.A2063V; 4:186620398-186620398

c.10050T>C; p.L3350L; 4:186609819-186609819

c.2517T>C; p.S839S; 4:186707311-186707311

c.7174C>A; p.Q2392K; 4:186619412-186619412

c.2616C>T; p.S872S; 4:186707212-186707212

c.10696A>C; p.K3566Q; 4:186603830-186603830

c.9249C>T; p.T3083T; 4:186613323-186613323

c.8799delA; p.G2934fs*3; 4:186617787-186617787

c.8799delA; p.G2934fs*3; 4:186617787-186617787

c.6394T>G; p.L2132V; 4:186620192-186620192

c.11534C>T; p.T3845M; 4:186601375-186601375

c.11791C>T; p.H3931Y; 4:186600210-186600210

c.6154G>T; p.E2052*; 4:186620432-186620432

c.10143C>G; p.S3381R; 4:186609246-186609246

c.11534C>T; p.T3845M; 4:186601375-186601375

c.6154G>T; p.E2052*; 4:186620432-186620432

c.10314C>A; p.P3438P; 4:186606106-186606106

c.5530C>T; p.H1844Y; 4:186621056-186621056

c.12255G>C; p.Q4085H; 4:186597974-186597974

c.10658C>A; p.T3553N; 4:186603868-186603868

c.11534C>T; p.T3845M; 4:186601375-186601375

c.11534C>T; p.T3845M; 4:186601375-186601375

c.13596C>T; p.V4532V; 4:186588763-186588763

c.12361G>T; p.G4121*; 4:186597689-186597689

c.8764A>G; p.I2922V; 4:186617822-186617822

c.1015A>T; p.K339*; 4:186708813-186708813

c.13659C>T; p.C4553C; 4:186588700-186588700

c.10790delG; p.G3597fs*3; 4:186603736-186603736

c.3929C>T; p.S1310L; 4:186636628-186636628

c.4337T>A; p.V1446E; 4:186628750-186628750

c.844G>A; p.D282N; 4:186708984-186708984

c.1015A>T; p.K339*; 4:186708813-186708813