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.3867G>T; p.K1289N; 11:108284347-108284347

c.7250T>C; p.L2417P; 11:108329181-108329181

c.7463G>T; p.C2488F; 11:108330369-108330369

c.7334T>C; p.L2445P; 11:108330240-108330240

c.1761T>C; p.G587G; 11:108251990-108251990

c.4143T>C; p.F1381F; 11:108289010-108289010

c.5823T>C; p.V1941V; 11:108310220-108310220

c.7250T>C; p.L2417P; 11:108329181-108329181

c.7250T>C; p.L2417P; 11:108329181-108329181

c.5823T>C; p.V1941V; 11:108310220-108310220

c.8138G>A; p.R2713K; 11:108335096-108335096

c.7250T>C; p.L2417P; 11:108329181-108329181

c.7778A>G; p.Q2593R; 11:108332027-108332027

c.7778A>G; p.Q2593R; 11:108332027-108332027

c.3153+2T>C; p.?; 11:108272609-108272609

c.1837G>T; p.V613L; 11:108252851-108252851

c.7778A>G; p.Q2593R; 11:108332027-108332027

c.3011G>A; p.S1004N; 11:108271340-108271340

c.3011G>A; p.S1004N; 11:108271340-108271340

c.3011G>A; p.S1004N; 11:108271340-108271340

c.8839A>G; p.T2947A; 11:108354863-108354863

c.72+2T>C; p.?; 11:108227698-108227698

c.1343A>G; p.H448R; 11:108250808-108250808

c.2576A>T; p.N859I; 11:108267280-108267280

c.2944C>T; p.R982C; 11:108271273-108271273

c.2944C>T; p.R982C; 11:108271273-108271273

c.472G>C; p.E158Q; 11:108235810-108235810

c.485A>G; p.Q162R; 11:108235823-108235823

c.7515+5G>A; p.?; 11:108330426-108330426

c.73delA; p.E26fs*8; 11:108227776-108227776

c.1898+2T>A; p.?; 11:108252914-108252914

c.3799G>A; p.E1267K; 11:108284279-108284279

c.7577G>A; p.R2526K; 11:108331505-108331505

c.1898+2T>A; p.?; 11:108252914-108252914

c.6096-1G>C; p.?; 11:108316010-108316010

c.1898+2T>A; p.?; 11:108252914-108252914

c.662+2T>C; p.?; 11:108244120-108244120

c.7578A>C; p.R2526S; 11:108331506-108331506

c.3804G>A; p.V1268V; 11:108284284-108284284

c.7188T>C; p.T2396T; 11:108329119-108329119

c.7188T>C; p.T2396T; 11:108329119-108329119

c.7188T>C; p.T2396T; 11:108329119-108329119

c.7188T>C; p.T2396T; 11:108329119-108329119

c.7188T>C; p.T2396T; 11:108329119-108329119

c.3153+2T>A; p.?; 11:108272609-108272609

c.7357C>T; p.R2453C; 11:108330263-108330263

c.7188T>C; p.T2396T; 11:108329119-108329119

c.2193delC; p.Y731fs*1; 11:108256283-108256283

c.2543A>G; p.E848G; 11:108267247-108267247

c.2583C>T; p.Y861Y; 11:108267287-108267287

c.3927A>G; p.A1309A; 11:108284407-108284407

c.6934C>T; p.L2312F; 11:108326184-108326184

c.7917delG; p.T2640fs*6; 11:108332890-108332890

c.1A>G; p.M1V; 11:108227625-108227625

c.1A>G; p.M1V; 11:108227625-108227625

c.2554C>T; p.Q852*; 11:108267258-108267258

c.1924G>A; p.E642K; 11:108253839-108253839

c.3906T>C; p.G1302G; 11:108284386-108284386

c.503_508delTCTCTG; p.F168_V170>L; 11:108243959-108243964

c.6100C>T; p.R2034*; 11:108316015-108316015

c.2444T>A; p.I815N; 11:108259053-108259053

c.3161C>G; p.P1054R; 11:108272729-108272729

c.6100C>T; p.R2034*; 11:108316015-108316015

c.8161G>A; p.D2721N; 11:108335854-108335854

c.3980T>G; p.L1327*; 11:108284460-108284460

c.7089G>T; p.K2363N; 11:108327758-108327758

c.6989_6995delTAAAACT; p.K2331fs*6; 11:108327658-108327664

c.8842A>T; p.I2948F; 11:108354866-108354866

c.9147C>T; p.F3049F; 11:108365484-108365484

c.9140G>A; p.R3047Q; 11:108365477-108365477

c.6188G>T; p.G2063V; 11:108316103-108316103

c.3258C>A; p.R1086R; 11:108272826-108272826

c.6976-3C>A; p.?; 11:108327642-108327642

c.1473C>T; p.T491T; 11:108250938-108250938

c.9140G>A; p.R3047Q; 11:108365477-108365477

c.73-1G>A; p.?; 11:108227775-108227775

c.6996_6997insA; p.T2333fs*40; 11:108327665-108327666

c.5558A>T; p.D1853V; 11:108304736-108304736

c.7332G>T; p.E2444D; 11:108330238-108330238

c.315C>T; p.I105I; 11:108229307-108229307

c.5558A>T; p.D1853V; 11:108304736-108304736

c.1810C>T; p.P604S; 11:108252824-108252824

c.1810C>T; p.P604S; 11:108252824-108252824

c.8786+1G>A; p.?; 11:108353881-108353881

c.1810C>T; p.P604S; 11:108252824-108252824

c.1810C>T; p.P604S; 11:108252824-108252824

c.5497-31A>G; p.?; 11:108304644-108304644

c.5966T>C; p.L1989S; 11:108312458-108312458

c.1179G>A; p.W393*; 11:108249046-108249046

c.5049C>G; p.F1683L; 11:108299757-108299757

c.620C>G; p.S207C; 11:108244076-108244076

c.8615A>T; p.H2872L; 11:108347309-108347309

c.7310A>C; p.Y2437S; 11:108330216-108330216

c.1236-19_1253del37; p.?; 11:108250682-108250718

c.7310A>C; p.Y2437S; 11:108330216-108330216

c.7458A>G; p.R2486R; 11:108330364-108330364

c.7792C>T; p.R2598*; 11:108332765-108332765

c.7792C>T; p.R2598*; 11:108332765-108332765

c.6878T>C; p.L2293P; 11:108326128-108326128

c.5476T>G; p.L1826V; 11:108303009-108303009

c.7213A>T; p.M2405L; 11:108329144-108329144

c.7182A>T; p.S2394S; 11:108329113-108329113

c.1235G>T; p.W412L; 11:108249102-108249102

c.8395_8404del10; p.F2799fs*4; 11:108343348-108343357

c.5177+2T>G; p.?; 11:108299887-108299887

c.3993G>A; p.Q1331Q; 11:108284473-108284473

c.2245G>A; p.A749T; 11:108256335-108256335

c.3732T>C; p.I1244I; 11:108282865-108282865

c.5815C>A; p.L1939I; 11:108310212-108310212

c.8318_8335>A; p.T2773fs*4; 11:108343271-108343288

c.8265T>A; p.Y2755*; 11:108335958-108335958

c.8412delA; p.M2805fs*1; 11:108343365-108343365

c.4436+1G>A; p.?; 11:108289802-108289802

c.2932T>C; p.S978P; 11:108271261-108271261

c.5249G>A; p.W1750*; 11:108301719-108301719

c.2087delG; p.G696fs*7; 11:108254002-108254002

c.496+4T>C; p.?; 11:108235838-108235838

c.9000G>C; p.Q3000H; 11:108365337-108365337

c.8959G>T; p.D2987Y; 11:108365190-108365190

c.8096C>G; p.P2699R; 11:108335054-108335054

c.4460C>A; p.S1487*; 11:108292642-108292642

c.6376G>T; p.E2126*; 11:108319982-108319982

c.5882A>G; p.Y1961C; 11:108310279-108310279

c.3993G>T; p.Q1331H; 11:108284473-108284473

c.4081C>T; p.Q1361*; 11:108287687-108287687

c.4424A>G; p.Y1475C; 11:108289789-108289789

c.4383G>T; p.W1461C; 11:108289748-108289748

c.5178-1G>T; p.?; 11:108301647-108301647

c.2932T>G; p.S978A; 11:108271261-108271261

c.5178-1G>T; p.?; 11:108301647-108301647

c.7898_7899insT; p.L2633fs*23; 11:108332871-108332872

c.6733G>C; p.E2245Q; 11:108325470-108325470

c.4665C>T; p.L1555L; 11:108293366-108293366

c.6795C>T; p.F2265F; 11:108325532-108325532

c.9022C>T; p.R3008C; 11:108365359-108365359

c.3616T>G; p.L1206V; 11:108282749-108282749

c.9022C>T; p.R3008C; 11:108365359-108365359

c.8249T>C; p.L2750S; 11:108335942-108335942

c.2078G>A; p.C693Y; 11:108253993-108253993

c.4852C>T; p.R1618*; 11:108295002-108295002

c.9022C>T; p.R3008C; 11:108365359-108365359

c.4852C>T; p.R1618*; 11:108295002-108295002

c.6975+5_6975+6insT; p.?; 11:108326230-108326231

c.8388C>T; p.F2796F; 11:108343341-108343341

c.9022C>T; p.R3008C; 11:108365359-108365359

c.5216A>C; p.N1739T; 11:108301686-108301686

c.5216A>C; p.N1739T; 11:108301686-108301686

c.9022C>T; p.R3008C; 11:108365359-108365359

c.4852C>T; p.R1618*; 11:108295002-108295002

c.5973A>C; p.E1991D; 11:108312465-108312465

c.5973A>C; p.E1991D; 11:108312465-108312465

c.9022C>T; p.R3008C; 11:108365359-108365359

c.5973A>C; p.E1991D; 11:108312465-108312465

c.1237C>A; p.L413I; 11:108250702-108250702

c.3701T>C; p.F1234S; 11:108282834-108282834

c.9022C>T; p.R3008C; 11:108365359-108365359

c.8457C>T; p.V2819V; 11:108345781-108345781

c.9022C>T; p.R3008C; 11:108365359-108365359

c.9022C>T; p.R3008C; 11:108365359-108365359

c.9022C>T; p.R3008C; 11:108365359-108365359

c.8284C>T; p.Q2762*; 11:108343237-108343237

c.9022C>T; p.R3008C; 11:108365359-108365359

c.829G>T; p.E277*; 11:108244954-108244954

c.8683G>A; p.E2895K; 11:108353777-108353777

c.2308G>T; p.E770*; 11:108257538-108257538

c.7390T>C; p.C2464R; 11:108330296-108330296

c.829G>T; p.E277*; 11:108244954-108244954

c.8084G>A; p.G2695D; 11:108335042-108335042

c.7466C>T; p.S2489F; 11:108330372-108330372

c.2308G>T; p.E770*; 11:108257538-108257538

c.8011-1G>T; p.?; 11:108334968-108334968

c.7466C>T; p.S2489F; 11:108330372-108330372

c.3_21del19; p.?; 11:108227627-108227645

c.5401A>G; p.N1801D; 11:108302934-108302934

c.8762C>T; p.T2921M; 11:108353856-108353856

c.8339T>G; p.L2780R; 11:108343292-108343292

c.5047_5051delTTCTC; p.F1683fs*7; 11:108299755-108299759

c.6154G>T; p.E2052*; 11:108316069-108316069

c.6154G>T; p.E2052*; 11:108316069-108316069

c.6154G>T; p.E2052*; 11:108316069-108316069

c.1709T>C; p.F570S; 11:108251938-108251938

c.1709T>C; p.F570S; 11:108251938-108251938

c.8965C>T; p.Q2989*; 11:108365196-108365196

c.7358G>A; p.R2453H; 11:108330264-108330264

c.1564_1565delGA; p.E522fs*43; 11:108251029-108251030

c.950A>G; p.D317G; 11:108247012-108247012

c.5714C>T; p.S1905L; 11:108307936-108307936

c.7358G>A; p.R2453H; 11:108330264-108330264

c.1709T>C; p.F570S; 11:108251938-108251938

c.7358G>A; p.R2453H; 11:108330264-108330264

c.5714C>T; p.S1905L; 11:108307936-108307936

c.6056A>G; p.Y2019C; 11:108315872-108315872

c.8402G>A; p.C2801Y; 11:108343355-108343355

c.7123A>G; p.S2375G; 11:108329054-108329054

c.8402G>A; p.C2801Y; 11:108343355-108343355

c.3250C>T; p.Q1084*; 11:108272818-108272818

c.6056A>G; p.Y2019C; 11:108315872-108315872

c.3250C>T; p.Q1084*; 11:108272818-108272818

c.821C>A; p.S274Y; 11:108244946-108244946

c.283C>T; p.Q95*; 11:108229275-108229275

c.52G>A; p.D18N; 11:108227676-108227676

c.2824C>A; p.L942I; 11:108268595-108268595

c.7307+2T>C; p.?; 11:108329240-108329240

c.2945G>T; p.R982L; 11:108271274-108271274

c.3242A>G; p.N1081S; 11:108272810-108272810

c.7123A>G; p.S2375G; 11:108329054-108329054

c.8415G>T; p.M2805I; 11:108343368-108343368

c.6791C>T; p.T2264I; 11:108325528-108325528

c.6418T>G; p.F2140V; 11:108320024-108320024

c.8194T>C; p.F2732L; 11:108335887-108335887

c.5932G>T; p.E1978*; 11:108312424-108312424

c.8786+1G>A; p.?; 11:108353881-108353881

c.7090-1G>T; p.?; 11:108329020-108329020

c.3238G>A; p.D1080N; 11:108272806-108272806

c.1134T>G; p.S378R; 11:108249001-108249001

c.1645A>G; p.S549G; 11:108251874-108251874

c.4988G>T; p.G1663V; 11:108297365-108297365

c.7270G>T; p.V2424L; 11:108329201-108329201

c.5216A>G; p.N1739S; 11:108301686-108301686

c.4416G>T; p.L1472F; 11:108289781-108289781

c.4834_4858>T; p.E1612_Q1620>*; 11:108294984-108295008

c.9043G>T; p.E3015*; 11:108365380-108365380

c.569T>A; p.I190K; 11:108244025-108244025

c.8839A>T; p.T2947S; 11:108354863-108354863

c.8839A>T; p.T2947S; 11:108354863-108354863

c.5216A>G; p.N1739S; 11:108301686-108301686

c.8419-1G>T; p.?; 11:108345742-108345742

c.9054A>G; p.K3018K; 11:108365391-108365391

c.428A>G; p.N143S; 11:108235766-108235766

c.1307_1309delTGA; p.M437delM; 11:108250772-108250774

c.1561_1562delAG; p.E522fs*43; 11:108251026-108251027

c.7251G>A; p.L2417L; 11:108329182-108329182

c.9054A>G; p.K3018K; 11:108365391-108365391

c.8977C>T; p.R2993*; 11:108365208-108365208

c.8977C>T; p.R2993*; 11:108365208-108365208

c.7181C>T; p.S2394L; 11:108329112-108329112

c.8977C>T; p.R2993*; 11:108365208-108365208

c.7251G>A; p.L2417L; 11:108329182-108329182

c.8977C>T; p.R2993*; 11:108365208-108365208

c.8467G>T; p.V2823F; 11:108345791-108345791

c.484C>T; p.Q162*; 11:108235822-108235822

c.8977C>T; p.R2993*; 11:108365208-108365208

c.3965T>C; p.L1322P; 11:108284445-108284445

c.3077G>C; p.W1026S; 11:108271406-108271406

c.7394A>G; p.K2465R; 11:108330300-108330300

c.7271T>G; p.V2424G; 11:108329202-108329202

c.7342G>A; p.D2448N; 11:108330248-108330248

c.5890A>G; p.K1964E; 11:108310287-108310287

c.672G>C; p.K224N; 11:108244797-108244797

c.7394A>G; p.K2465R; 11:108330300-108330300

c.2988T>C; p.H996H; 11:108271317-108271317

c.5019C>T; p.S1673S; 11:108299727-108299727

c.7342G>T; p.D2448Y; 11:108330248-108330248

c.7877C>T; p.A2626V; 11:108332850-108332850

c.2151G>T; p.R717R; 11:108256241-108256241

c.1051G>T; p.D351Y; 11:108247113-108247113

c.7877C>T; p.A2626V; 11:108332850-108332850

c.4987G>T; p.G1663C; 11:108297364-108297364

c.7269A>G; p.E2423E; 11:108329200-108329200

c.4777-2A>T; p.?; 11:108294925-108294925

c.875C>G; p.P292R; 11:108245000-108245000

c.2521G>T; p.D841Y; 11:108267225-108267225

c.5557G>A; p.D1853N; 11:108304735-108304735

c.4777-2A>T; p.?; 11:108294925-108294925

c.5557G>A; p.D1853N; 11:108304735-108304735

c.5557G>A; p.D1853N; 11:108304735-108304735

c.5557G>A; p.D1853N; 11:108304735-108304735

c.5557G>A; p.D1853N; 11:108304735-108304735

c.7435_7438delGAAC; p.E2479fs*24; 11:108330341-108330344

c.5557G>A; p.D1853N; 11:108304735-108304735

c.3078G>A; p.W1026*; 11:108272532-108272532

c.3351A>G; p.Q1117Q; 11:108279557-108279557

c.5309C>A; p.S1770*; 11:108301779-108301779

c.5557G>A; p.D1853N; 11:108304735-108304735

c.5557G>A; p.D1853N; 11:108304735-108304735

c.7269A>G; p.E2423E; 11:108329200-108329200

c.3873_3992del120; p.V1292_Q1331del40; 11:108284353-108284472

c.9032T>A; p.M3011K; 11:108365369-108365369

c.5557G>A; p.D1853N; 11:108304735-108304735

c.5557G>A; p.D1853N; 11:108304735-108304735

c.5557G>A; p.D1853N; 11:108304735-108304735

c.9032T>A; p.M3011K; 11:108365369-108365369

c.9032T>A; p.M3011K; 11:108365369-108365369

c.4777-2A>T; p.?; 11:108294925-108294925

c.8738A>G; p.D2913G; 11:108353832-108353832

c.4777-2A>T; p.?; 11:108294925-108294925

c.5557G>A; p.D1853N; 11:108304735-108304735

c.7269A>G; p.E2423E; 11:108329200-108329200

c.5948A>G; p.N1983S; 11:108312440-108312440

c.5948A>G; p.N1983S; 11:108312440-108312440

c.5948A>G; p.N1983S; 11:108312440-108312440

c.5948A>G; p.N1983S; 11:108312440-108312440

c.5948A>G; p.N1983S; 11:108312440-108312440

c.7210T>G; p.Y2404D; 11:108329141-108329141

c.5948A>G; p.N1983S; 11:108312440-108312440

c.6161_6162insA; p.I2055fs*33; 11:108316076-108316077

c.5948A>G; p.N1983S; 11:108312440-108312440

c.5948A>G; p.N1983S; 11:108312440-108312440

c.617delA; p.N206fs*24; 11:108244073-108244073

c.5948A>G; p.N1983S; 11:108312440-108312440

c.5948A>G; p.N1983S; 11:108312440-108312440

c.5948A>G; p.N1983S; 11:108312440-108312440

c.5948A>G; p.N1983S; 11:108312440-108312440

c.5948A>G; p.N1983S; 11:108312440-108312440

c.5948A>G; p.N1983S; 11:108312440-108312440

c.5948A>G; p.N1983S; 11:108312440-108312440

c.5948A>G; p.N1983S; 11:108312440-108312440

c.1431G>T; p.K477N; 11:108250896-108250896

c.5948A>G; p.N1983S; 11:108312440-108312440

c.7879T>C; p.Y2627H; 11:108332852-108332852

c.5948A>G; p.N1983S; 11:108312440-108312440

c.5948A>G; p.N1983S; 11:108312440-108312440

c.5948A>G; p.N1983S; 11:108312440-108312440

c.5948A>G; p.N1983S; 11:108312440-108312440

c.5948A>G; p.N1983S; 11:108312440-108312440

c.5948A>G; p.N1983S; 11:108312440-108312440

c.748C>T; p.R250*; 11:108244873-108244873

c.748C>T; p.R250*; 11:108244873-108244873

c.7184A>T; p.D2395V; 11:108329115-108329115

c.748C>T; p.R250*; 11:108244873-108244873

c.748C>T; p.R250*; 11:108244873-108244873

c.748C>T; p.R250*; 11:108244873-108244873

c.8266A>T; p.K2756*; 11:108335959-108335959

c.748C>T; p.R250*; 11:108244873-108244873

c.748C>T; p.R250*; 11:108244873-108244873

c.8174A>T; p.D2725V; 11:108335867-108335867

c.2T>C; p.M1T; 11:108227626-108227626

c.748C>T; p.R250*; 11:108244873-108244873

c.775C>A; p.L259I; 11:108244900-108244900

c.6773T>C; p.L2258P; 11:108325510-108325510

c.1296G>T; p.L432L; 11:108250761-108250761

c.6922G>A; p.A2308T; 11:108326172-108326172

c.8174A>T; p.D2725V; 11:108335867-108335867

c.748C>T; p.R250*; 11:108244873-108244873

c.8558C>T; p.T2853M; 11:108345882-108345882

c.2240A>G; p.Q747R; 11:108256330-108256330

c.4722_4723delGC; p.R1575fs*10; 11:108293423-108293424

c.3967A>G; p.K1323E; 11:108284447-108284447

c.5497-1G>A; p.?; 11:108304674-108304674

c.4129A>T; p.N1377Y; 11:108288996-108288996

c.7516-1G>A; p.?; 11:108331443-108331443

c.8774G>A; p.G2925D; 11:108353868-108353868

c.698T>A; p.L233*; 11:108244823-108244823

c.4009A>G; p.I1337V; 11:108287615-108287615

c.7237A>C; p.K2413Q; 11:108329168-108329168

c.8443G>A; p.E2815K; 11:108345767-108345767

c.4833T>C; p.L1611L; 11:108294983-108294983

c.1461T>G; p.I487M; 11:108250926-108250926

c.7921C>T; p.Q2641*; 11:108332894-108332894

c.4332_4333insT; p.V1446fs*2; 11:108289697-108289698

c.8613_8615delACA; p.R2871_H2872>S; 11:108347307-108347309

c.1537C>T; p.Q513*; 11:108251002-108251002

c.1262C>A; p.S421*; 11:108250727-108250727

c.7365G>A; p.L2455L; 11:108330271-108330271

c.9024T>C; p.R3008R; 11:108365361-108365361

c.231A>T; p.I77I; 11:108229223-108229223

c.7629+1G>A; p.?; 11:108331558-108331558

c.6490G>T; p.E2164*; 11:108321338-108321338

c.8049A>G; p.I2683M; 11:108335007-108335007

c.8287C>T; p.R2763*; 11:108343240-108343240

c.5572T>C; p.W1858R; 11:108304750-108304750

c.8287C>T; p.R2763*; 11:108343240-108343240

c.2094A>C; p.S698S; 11:108254009-108254009

c.1416A>G; p.L472L; 11:108250881-108250881

c.4309A>T; p.R1437*; 11:108289674-108289674

c.1396C>T; p.Q466*; 11:108250861-108250861

c.4419_4436+10del28; p.?; 11:108289784-108289811

c.2075G>A; p.R692H; 11:108253990-108253990

c.8674_8675insT; p.A2893fs*3; 11:108353768-108353769

c.8338C>A; p.L2780I; 11:108343291-108343291

c.7308A>C; p.R2436S; 11:108330214-108330214

c.5044G>T; p.D1682Y; 11:108299752-108299752

c.6889C>T; p.Q2297*; 11:108326139-108326139

c.2077T>C; p.C693R; 11:108253992-108253992

c.5044G>T; p.D1682Y; 11:108299752-108299752

c.5807T>C; p.L1936S; 11:108310204-108310204

c.6055T>A; p.Y2019N; 11:108315871-108315871

c.5044G>T; p.D1682Y; 11:108299752-108299752

c.7997C>T; p.T2666I; 11:108333955-108333955

c.6889C>T; p.Q2297*; 11:108326139-108326139

c.2934T>C; p.S978S; 11:108271263-108271263

c.9156G>C; p.W3052C; 11:108365493-108365493

c.7997C>T; p.T2666I; 11:108333955-108333955

c.8084G>C; p.G2695A; 11:108335042-108335042

c.8084G>C; p.G2695A; 11:108335042-108335042

c.8631G>A; p.L2877L; 11:108347325-108347325

c.4737A>C; p.Q1579H; 11:108293438-108293438

c.9022C>A; p.R3008S; 11:108365359-108365359

c.6920T>G; p.L2307R; 11:108326170-108326170

c.9022C>A; p.R3008S; 11:108365359-108365359

c.7325A>G; p.Q2442R; 11:108330231-108330231

c.8084G>C; p.G2695A; 11:108335042-108335042

c.9022C>A; p.R3008S; 11:108365359-108365359

c.414A>G; p.G138G; 11:108235752-108235752

c.414A>G; p.G138G; 11:108235752-108235752

c.3663G>A; p.W1221*; 11:108282796-108282796

c.5834_5835delCT; p.Q1946fs*18; 11:108310231-108310232

c.8672G>A; p.G2891D; 11:108353766-108353766

c.8672G>A; p.G2891D; 11:108353766-108353766

c.414A>G; p.G138G; 11:108235752-108235752

c.634delT; p.S214fs*16; 11:108244090-108244090

c.2610C>T; p.N870N; 11:108267314-108267314

c.634delT; p.S214fs*16; 11:108244090-108244090

c.2610C>T; p.N870N; 11:108267314-108267314

c.7228T>C; p.F2410L; 11:108329159-108329159

c.6751C>A; p.L2251I; 11:108325488-108325488

c.634delT; p.S214fs*16; 11:108244090-108244090

c.5464G>T; p.E1822*; 11:108302997-108302997

c.414A>G; p.G138G; 11:108235752-108235752

c.8880G>T; p.W2960C; 11:108365111-108365111

c.8143C>T; p.L2715F; 11:108335101-108335101

c.1674A>G; p.G558G; 11:108251903-108251903

c.5918G>T; p.R1973I; 11:108310315-108310315

c.8810T>G; p.V2937G; 11:108354834-108354834

c.4109+5G>A; p.?; 11:108287720-108287720

c.4451T>G; p.M1484R; 11:108292633-108292633

c.8810T>G; p.V2937G; 11:108354834-108354834

c.8080G>C; p.G2694R; 11:108335038-108335038

c.1674A>G; p.G558G; 11:108251903-108251903

c.6491A>G; p.E2164G; 11:108321339-108321339

c.8517C>A; p.F2839L; 11:108345841-108345841

c.7355T>C; p.L2452P; 11:108330261-108330261

c.8315_8315delG; p.G2772fs*34; 11:108343268-108343268

c.6371A>G; p.Y2124C; 11:108319977-108319977

c.4222C>T; p.L1408F; 11:108289089-108289089

c.1026A>C; p.K342N; 11:108247088-108247088

c.7468C>T; p.L2490F; 11:108330374-108330374

c.3771A>T; p.P1257P; 11:108284251-108284251

c.6503C>T; p.S2168L; 11:108321351-108321351

c.7471T>A; p.W2491R; 11:108330377-108330377

c.1026A>C; p.K342N; 11:108247088-108247088

c.3649C>A; p.L1217M; 11:108282782-108282782

c.8735G>A; p.R2912K; 11:108353829-108353829

c.7848G>T; p.M2616I; 11:108332821-108332821

c.170G>T; p.W57L; 11:108227873-108227873

c.2387A>C; p.N796T; 11:108258996-108258996

c.2187C>A; p.Y729*; 11:108256277-108256277

c.504C>A; p.F168L; 11:108243960-108243960

c.3712_3716delTTATT; p.L1238fs*6; 11:108282845-108282849

c.1786C>T; p.P596S; 11:108252015-108252015

c.3712_3716delTTATT; p.L1238fs*6; 11:108282845-108282849

c.5188C>T; p.R1730*; 11:108301658-108301658

c.5225C>T; p.A1742V; 11:108301695-108301695

c.1992C>T; p.T664T; 11:108253907-108253907

c.5188C>T; p.R1730*; 11:108301658-108301658

c.5188C>T; p.R1730*; 11:108301658-108301658

c.5188C>T; p.R1730*; 11:108301658-108301658

c.1786C>T; p.P596S; 11:108252015-108252015

c.7307+1G>A; p.?; 11:108329239-108329239

c.5188C>T; p.R1730*; 11:108301658-108301658

c.7631T>C; p.L2544P; 11:108331880-108331880

c.8275C>T; p.P2759S; 11:108343228-108343228

c.5746A>G; p.M1916V; 11:108307968-108307968

c.6055T>C; p.Y2019H; 11:108315871-108315871

c.6453-1G>C; p.?; 11:108321300-108321300

c.5746A>G; p.M1916V; 11:108307968-108307968

c.5729T>A; p.L1910H; 11:108307951-108307951

c.1396C>A; p.Q466K; 11:108250861-108250861

c.7305C>G; p.N2435K; 11:108329236-108329236

c.9064G>T; p.E3022*; 11:108365401-108365401

c.5152C>G; p.L1718V; 11:108299860-108299860

c.1363G>A; p.V455M; 11:108250828-108250828

c.5152C>G; p.L1718V; 11:108299860-108299860

c.2751C>T; p.S917S; 11:108268522-108268522

c.6114C>T; p.H2038H; 11:108316029-108316029

c.5963G>T; p.S1988I; 11:108312455-108312455

c.5674G>T; p.E1892*; 11:108304852-108304852

c.5224G>C; p.A1742P; 11:108301694-108301694

c.6573-1G>A; p.?; 11:108325309-108325309

c.3536C>A; p.S1179Y; 11:108281128-108281128

c.3397G>A; p.E1133K; 11:108279603-108279603

c.6404delT; p.L2135fs*18; 11:108320010-108320010

c.1834C>A; p.L612I; 11:108252848-108252848

c.6031A>G; p.S2011G; 11:108315847-108315847

c.3847C>T; p.L1283L; 11:108284327-108284327

c.5224G>C; p.A1742P; 11:108301694-108301694

c.6318T>A; p.N2106K; 11:108317492-108317492

c.7330G>A; p.E2444K; 11:108330236-108330236

c.9016G>C; p.A3006P; 11:108365353-108365353

c.7253_7254insGAA; p.K2418_R2419insK; 11:108329184-108329185

c.3571A>T; p.K1191*; 11:108281163-108281163

c.6975+1G>C; p.?; 11:108326226-108326226

c.7330G>A; p.E2444K; 11:108330236-108330236

c.7280T>C; p.L2427P; 11:108329211-108329211

c.7280T>C; p.L2427P; 11:108329211-108329211

c.1004G>A; p.G335E; 11:108247066-108247066

c.9040C>T; p.Q3014*; 11:108365377-108365377

c.7280T>C; p.L2427P; 11:108329211-108329211

c.3070G>A; p.A1024T; 11:108271399-108271399

c.8123A>G; p.D2708G; 11:108335081-108335081

c.7280T>C; p.L2427P; 11:108329211-108329211

c.6417A>C; p.E2139D; 11:108320023-108320023

c.7280T>C; p.L2427P; 11:108329211-108329211

c.3058A>G; p.T1020A; 11:108271387-108271387

c.7280T>C; p.L2427P; 11:108329211-108329211

c.2987A>T; p.H996L; 11:108271316-108271316

c.5714C>A; p.S1905*; 11:108307936-108307936

c.8083G>A; p.G2695S; 11:108335041-108335041

c.5286C>A; p.A1762A; 11:108301756-108301756

c.8083G>A; p.G2695S; 11:108335041-108335041

c.2987A>T; p.H996L; 11:108271316-108271316

c.9016G>A; p.A3006T; 11:108365353-108365353

c.2987A>T; p.H996L; 11:108271316-108271316

c.9016G>A; p.A3006T; 11:108365353-108365353

c.4341_4341delT; p.L1448fs*3; 11:108289706-108289706

c.4405A>G; p.I1469V; 11:108289770-108289770

c.7358G>C; p.R2453P; 11:108330264-108330264

c.4437-1G>C; p.?; 11:108292618-108292618

c.8680T>G; p.F2894V; 11:108353774-108353774

c.2803A>G; p.T935A; 11:108268574-108268574

c.8662A>T; p.I2888L; 11:108347356-108347356

c.2803A>G; p.T935A; 11:108268574-108268574

c.6011T>C; p.L2004P; 11:108315827-108315827

c.6011T>C; p.L2004P; 11:108315827-108315827

c.8854C>T; p.L2952F; 11:108365085-108365085

c.5203_5210delACCTGTTT; p.T1735fs*11; 11:108301673-108301680

c.6011T>C; p.L2004P; 11:108315827-108315827

c.967A>G; p.I323V; 11:108247029-108247029

c.3636T>A; p.S1212S; 11:108282769-108282769

c.8837T>C; p.L2946S; 11:108354861-108354861

c.8624A>C; p.N2875T; 11:108347318-108347318

c.7777C>T; p.Q2593*; 11:108332026-108332026

c.4220T>G; p.I1407S; 11:108289087-108289087

c.1048G>A; p.A350T; 11:108247110-108247110

c.1177T>C; p.W393R; 11:108249044-108249044

c.1048G>A; p.A350T; 11:108247110-108247110

c.8624A>C; p.N2875T; 11:108347318-108347318

c.1810C>A; p.P604T; 11:108252824-108252824

c.8624A>C; p.N2875T; 11:108347318-108347318

c.2921C>T; p.S974F; 11:108271146-108271146

c.5044G>C; p.D1682H; 11:108299752-108299752

c.2987A>G; p.H996R; 11:108271316-108271316

c.8851G>T; p.V2951F; 11:108365082-108365082

c.2987A>G; p.H996R; 11:108271316-108271316

c.7996A>G; p.T2666A; 11:108333954-108333954

c.7996A>G; p.T2666A; 11:108333954-108333954

c.7996A>G; p.T2666A; 11:108333954-108333954

c.7996A>G; p.T2666A; 11:108333954-108333954

c.5044G>C; p.D1682H; 11:108299752-108299752

c.1619G>A; p.C540Y; 11:108251848-108251848

c.1619G>A; p.C540Y; 11:108251848-108251848

c.2987A>G; p.H996R; 11:108271316-108271316

c.7996A>G; p.T2666A; 11:108333954-108333954

c.5958T>G; p.I1986M; 11:108312450-108312450

c.5815C>G; p.L1939V; 11:108310212-108310212

c.1229T>C; p.V410A; 11:108249096-108249096

c.902-1G>T; p.?; 11:108246963-108246963

c.4388T>C; p.F1463S; 11:108289753-108289753

c.1229T>C; p.V410A; 11:108249096-108249096

c.2988T>G; p.H996Q; 11:108271317-108271317

c.8558C>G; p.T2853R; 11:108345882-108345882

c.7700A>G; p.N2567S; 11:108331949-108331949

c.1229T>C; p.V410A; 11:108249096-108249096

c.1229T>C; p.V410A; 11:108249096-108249096

c.4388T>C; p.F1463S; 11:108289753-108289753

c.6097C>G; p.L2033V; 11:108316012-108316012

c.6097C>G; p.L2033V; 11:108316012-108316012

c.2376G>A; p.K792K; 11:108257606-108257606

c.1229T>C; p.V410A; 11:108249096-108249096

c.3012_3014delCAA; p.N1005delN; 11:108271341-108271343

c.3012_3014delCAA; p.N1005delN; 11:108271341-108271343

c.6097C>G; p.L2033V; 11:108316012-108316012

c.680_680delC; p.S227fs*1; 11:108244805-108244805

c.6113A>G; p.H2038R; 11:108316028-108316028

c.8631G>C; p.L2877F; 11:108347325-108347325

c.2149C>T; p.R717W; 11:108256239-108256239

c.5310A>G; p.S1770S; 11:108301780-108301780

c.7327C>T; p.R2443*; 11:108330233-108330233

c.7223C>A; p.S2408*; 11:108329154-108329154

c.2476A>C; p.I826L; 11:108267180-108267180

c.1288T>A; p.C430S; 11:108250753-108250753

c.7327C>T; p.R2443*; 11:108330233-108330233

c.2149C>T; p.R717W; 11:108256239-108256239

c.5217C>T; p.N1739N; 11:108301687-108301687

c.5217C>T; p.N1739N; 11:108301687-108301687

c.5227A>G; p.T1743A; 11:108301697-108301697

c.5227A>G; p.T1743A; 11:108301697-108301697

c.9010A>G; p.K3004E; 11:108365347-108365347

c.1430A>G; p.K477R; 11:108250895-108250895

c.6709_6710delAA; p.K2237fs*11; 11:108325446-108325447

c.8312C>T; p.T2771I; 11:108343265-108343265

c.5227A>G; p.T1743A; 11:108301697-108301697

c.2464T>G; p.L822V; 11:108259073-108259073

c.8248T>C; p.L2750L; 11:108335941-108335941

c.5925T>A; p.L1975L; 11:108312417-108312417

c.6787A>T; p.R2263*; 11:108325524-108325524

c.185+8A>T; p.?; 11:108227896-108227896

c.639T>G; p.F213L; 11:108244095-108244095

c.385A>T; p.K129*; 11:108235723-108235723

c.5006-2A>G; p.?; 11:108299712-108299712

c.1637delT; p.L546fs*5; 11:108251866-108251866

c.6291A>T; p.E2097D; 11:108317465-108317465

c.2950C>G; p.Q984E; 11:108271279-108271279

c.3901G>T; p.E1301*; 11:108284381-108284381

c.6291A>T; p.E2097D; 11:108317465-108317465

c.1230G>T; p.V410V; 11:108249097-108249097

c.8850+1G>T; p.?; 11:108354875-108354875

c.299T>G; p.L100W; 11:108229291-108229291

c.5036G>C; p.G1679A; 11:108299744-108299744

c.1898delG; p.C633fs*16; 11:108252912-108252912

c.6776C>A; p.S2259Y; 11:108325513-108325513

c.7124G>T; p.S2375I; 11:108329055-108329055

c.478_482delTCTCA; p.S160fs*23; 11:108235816-108235820

c.5982A>G; p.K1994K; 11:108312474-108312474

c.3910_3916delAGAGACA; p.R1304fs*43; 11:108284390-108284396

c.5982A>G; p.K1994K; 11:108312474-108312474

c.6046G>T; p.D2016Y; 11:108315862-108315862

c.996T>C; p.Y332Y; 11:108247058-108247058

c.4220T>C; p.I1407T; 11:108289087-108289087

c.7463G>A; p.C2488Y; 11:108330369-108330369

c.279G>T; p.K93N; 11:108229271-108229271

c.7272A>G; p.V2424V; 11:108329203-108329203

c.1758G>T; p.E586D; 11:108251987-108251987

c.2376+2T>C; p.?; 11:108257608-108257608

c.1758G>T; p.E586D; 11:108251987-108251987

c.8173G>T; p.D2725Y; 11:108335866-108335866

c.8189A>G; p.Q2730R; 11:108335882-108335882

c.7669T>G; p.L2557V; 11:108331918-108331918

c.6188G>A; p.G2063E; 11:108316103-108316103

c.6628C>T; p.Q2210*; 11:108325365-108325365

c.868C>T; p.H290Y; 11:108244993-108244993

c.5831T>A; p.V1944E; 11:108310228-108310228

c.7325A>C; p.Q2442P; 11:108330231-108330231

c.7325A>C; p.Q2442P; 11:108330231-108330231

c.7325A>C; p.Q2442P; 11:108330231-108330231

c.7325A>C; p.Q2442P; 11:108330231-108330231

c.7325A>C; p.Q2442P; 11:108330231-108330231

c.8254A>T; p.I2752F; 11:108335947-108335947

c.3232C>G; p.L1078V; 11:108272800-108272800

c.5789A>T; p.D1930V; 11:108310186-108310186

c.5745C>A; p.Y1915*; 11:108307967-108307967

c.6638delA; p.K2213fs*22; 11:108325375-108325375

c.2863C>T; p.P955S; 11:108271088-108271088

c.3883_3885delCTT; p.L1295del; 11:108284363-108284365

c.9002G>A; p.S3001N; 11:108365339-108365339

c.7325A>C; p.Q2442P; 11:108330231-108330231

c.2720_2723delGTGT; p.C907fs*1; 11:108268491-108268494

c.7636_7644delTCTAGAATT; p.R2547_S2549delRIS; 11:108331885-108331893

c.392C>A; p.S131*; 11:108235730-108235730

c.5713T>C; p.S1905P; 11:108307935-108307935

c.3449G>T; p.R1150I; 11:108281041-108281041

c.1672G>T; p.G558*; 11:108251901-108251901

c.1672G>T; p.G558*; 11:108251901-108251901

c.8194T>G; p.F2732V; 11:108335887-108335887

c.5693G>A; p.R1898Q; 11:108307915-108307915

c.3628A>G; p.M1210V; 11:108282761-108282761

c.1444A>C; p.K482Q; 11:108250909-108250909

c.3628A>G; p.M1210V; 11:108282761-108282761

c.1065+1G>C; p.?; 11:108247128-108247128

c.4845G>T; p.K1615N; 11:108294995-108294995

c.1710T>C; p.F570F; 11:108251939-108251939

c.2201T>C; p.V734A; 11:108256291-108256291

c.378T>A; p.D126E; 11:108235716-108235716

c.7247T>C; p.L2416P; 11:108329178-108329178

c.7247T>C; p.L2416P; 11:108329178-108329178

c.3556G>A; p.E1186K; 11:108281148-108281148

c.1710T>C; p.F570F; 11:108251939-108251939

c.4466G>A; p.R1489H; 11:108292648-108292648

c.2815A>G; p.T939A; 11:108268586-108268586

c.9050T>C; p.L3017P; 11:108365387-108365387

c.7250T>A; p.L2417Q; 11:108329181-108329181

c.4095_4109+4del19; p.?; 11:108287701-108287715

c.6374_6375insT; p.E2126fs*1; 11:108319980-108319981

c.9016G>T; p.A3006S; 11:108365353-108365353

c.9017C>T; p.A3006V; 11:108365354-108365354

c.5643C>T; p.S1881S; 11:108304821-108304821

c.1055T>A; p.I352N; 11:108247117-108247117

c.1010G>C; p.R337P; 11:108247072-108247072

c.8164C>A; p.L2722M; 11:108335857-108335857

c.9017C>T; p.A3006V; 11:108365354-108365354

c.7575T>C; p.A2525A; 11:108331503-108331503

c.8164C>A; p.L2722M; 11:108335857-108335857

c.7340T>G; p.L2447W; 11:108330246-108330246

c.1229T>A; p.V410E; 11:108249096-108249096

c.3574A>G; p.K1192E; 11:108281166-108281166

c.3137T>G; p.L1046R; 11:108272591-108272591

c.7255A>G; p.R2419G; 11:108329186-108329186

c.8307G>A; p.W2769*; 11:108343260-108343260

c.69A>G; p.R23R; 11:108227693-108227693

c.3375G>A; p.L1125L; 11:108279581-108279581

c.8450A>T; p.Y2817F; 11:108345774-108345774

c.5025G>T; p.L1675F; 11:108299733-108299733

c.8158G>C; p.D2720H; 11:108335851-108335851

c.3077+10G>T; p.?; 11:108271416-108271416

c.7570G>A; p.A2524T; 11:108331498-108331498

c.7867C>T; p.L2623F; 11:108332840-108332840

c.2150G>T; p.R717L; 11:108256240-108256240

c.8668C>T; p.L2890L; 11:108347362-108347362

c.3077+10G>T; p.?; 11:108271416-108271416

c.5546delT; p.L1850fs*67; 11:108304724-108304724

c.8981A>G; p.N2994S; 11:108365212-108365212

c.2150G>T; p.R717L; 11:108256240-108256240

c.6490G>C; p.E2164Q; 11:108321338-108321338

c.1216G>A; p.D406N; 11:108249083-108249083

c.6490G>C; p.E2164Q; 11:108321338-108321338

c.5039C>T; p.P1680L; 11:108299747-108299747

c.487C>T; p.Q163*; 11:108235825-108235825

c.7180T>C; p.S2394P; 11:108329111-108329111

c.6374A>G; p.H2125R; 11:108319980-108319980

c.7180T>C; p.S2394P; 11:108329111-108329111

c.179delT; p.F61fs*15; 11:108227882-108227882

c.707T>G; p.L236R; 11:108244832-108244832

c.179delT; p.F61fs*15; 11:108227882-108227882

c.8054C>A; p.S2685*; 11:108335012-108335012

c.7777C>A; p.Q2593K; 11:108332026-108332026

c.7180T>C; p.S2394P; 11:108329111-108329111

c.5047T>G; p.F1683V; 11:108299755-108299755

c.179delT; p.F61fs*15; 11:108227882-108227882

c.6374A>G; p.H2125R; 11:108319980-108319980

c.5881T>A; p.Y1961N; 11:108310278-108310278

c.7258G>C; p.A2420P; 11:108329189-108329189

c.6374A>G; p.H2125R; 11:108319980-108319980

c.6374A>G; p.H2125R; 11:108319980-108319980

c.4361A>G; p.K1454R; 11:108289726-108289726

c.1593C>T; p.A531A; 11:108251058-108251058

c.9023G>A; p.R3008H; 11:108365360-108365360

c.8775T>C; p.G2925G; 11:108353869-108353869

c.610G>T; p.G204*; 11:108244066-108244066

c.7125T>C; p.S2375S; 11:108329056-108329056

c.8775T>C; p.G2925G; 11:108353869-108353869

c.9023G>A; p.R3008H; 11:108365360-108365360

c.9023G>A; p.R3008H; 11:108365360-108365360

c.9023G>A; p.R3008H; 11:108365360-108365360

c.9023G>A; p.R3008H; 11:108365360-108365360

c.9023G>A; p.R3008H; 11:108365360-108365360

c.8775T>C; p.G2925G; 11:108353869-108353869

c.9023G>A; p.R3008H; 11:108365360-108365360

c.9023G>A; p.R3008H; 11:108365360-108365360

c.9023G>A; p.R3008H; 11:108365360-108365360

c.7125T>C; p.S2375S; 11:108329056-108329056

c.9023G>A; p.R3008H; 11:108365360-108365360

c.9023G>A; p.R3008H; 11:108365360-108365360

c.4834G>A; p.E1612K; 11:108294984-108294984

c.9023G>A; p.R3008H; 11:108365360-108365360

c.9023G>A; p.R3008H; 11:108365360-108365360

c.9023G>A; p.R3008H; 11:108365360-108365360

c.9023G>A; p.R3008H; 11:108365360-108365360

c.6453-1G>A; p.?; 11:108321300-108321300

c.1688T>C; p.M563T; 11:108251917-108251917

c.9023G>A; p.R3008H; 11:108365360-108365360

c.8496T>C; p.R2832R; 11:108345820-108345820

c.2119_2123delTCTGA; p.S707fs*29; 11:108254034-108254038

c.6490G>A; p.E2164K; 11:108321338-108321338

c.6247G>T; p.G2083*; 11:108317421-108317421

c.6490G>A; p.E2164K; 11:108321338-108321338

c.8736A>G; p.R2912R; 11:108353830-108353830

c.8736A>G; p.R2912R; 11:108353830-108353830

c.6820G>A; p.A2274T; 11:108326070-108326070

c.140C>A; p.S47*; 11:108227843-108227843

c.5509delT; p.C1838fs*8; 11:108304687-108304687

c.8736A>G; p.R2912R; 11:108353830-108353830

c.5486delC; p.P1829fs*5; 11:108303019-108303019

c.1385T>C; p.V462A; 11:108250850-108250850

c.2921+5G>C; p.?; 11:108271151-108271151

c.6490G>A; p.E2164K; 11:108321338-108321338

c.7343A>T; p.D2448V; 11:108330249-108330249

c.5639_5640insG; p.S1881fs*23; 11:108304817-108304818

c.5972A>G; p.E1991G; 11:108312464-108312464

c.5639_5640insG; p.S1881fs*23; 11:108304817-108304818

c.5972A>G; p.E1991G; 11:108312464-108312464

c.7242A>G; p.Q2414Q; 11:108329173-108329173

c.8614C>T; p.H2872Y; 11:108347308-108347308

c.2835T>C; p.H945H; 11:108268606-108268606

c.5972A>G; p.E1991G; 11:108312464-108312464

c.3625_3626delTT; p.F1209fs*19; 11:108282758-108282759

c.2611G>A; p.E871K; 11:108267315-108267315

c.7326G>T; p.Q2442H; 11:108330232-108330232

c.923G>A; p.W308*; 11:108246985-108246985

c.2413C>T; p.R805*; 11:108259022-108259022

c.1010G>A; p.R337H; 11:108247072-108247072

c.1010G>A; p.R337H; 11:108247072-108247072

c.1010G>A; p.R337H; 11:108247072-108247072

c.1010G>A; p.R337H; 11:108247072-108247072

c.2413C>T; p.R805*; 11:108259022-108259022

c.1010G>A; p.R337H; 11:108247072-108247072

c.6689delT; p.L2231fs*4; 11:108325426-108325426

c.1010G>A; p.R337H; 11:108247072-108247072

c.7536A>G; p.P2512P; 11:108331464-108331464

c.1010G>A; p.R337H; 11:108247072-108247072

c.7738A>T; p.R2580*; 11:108331987-108331987

c.1010G>A; p.R337H; 11:108247072-108247072

c.7993_7994CC>AA; p.P2665N; 11:108333951-108333952

c.2241G>C; p.Q747H; 11:108256331-108256331

c.7193A>G; p.Y2398C; 11:108329124-108329124

c.1010G>A; p.R337H; 11:108247072-108247072

c.923G>A; p.W308*; 11:108246985-108246985

c.7474C>T; p.L2492F; 11:108330380-108330380

c.1010G>A; p.R337H; 11:108247072-108247072

c.1010G>A; p.R337H; 11:108247072-108247072

c.8615A>G; p.H2872R; 11:108347309-108347309

c.1010G>A; p.R337H; 11:108247072-108247072

c.3101_3102insA; p.Y1034fs*1; 11:108272555-108272556

c.6902_6903insA; p.E2304fs*69; 11:108326152-108326153

c.3814G>C; p.A1272P; 11:108284294-108284294

c.6095+2T>A; p.?; 11:108315913-108315913

c.412G>A; p.G138R; 11:108235750-108235750

c.3814G>C; p.A1272P; 11:108284294-108284294

c.6902_6903insA; p.E2304fs*69; 11:108326152-108326153

c.412G>A; p.G138R; 11:108235750-108235750

c.2702_2703insT; p.K902fs*18; 11:108268473-108268474

c.359T>G; p.L120R; 11:108235697-108235697

c.5320-2A>T; p.?; 11:108302851-108302851

c.810G>A; p.R270R; 11:108244935-108244935

c.2921+5G>A; p.?; 11:108271151-108271151

c.2156C>A; p.S719*; 11:108256246-108256246

c.6936C>A; p.L2312L; 11:108326186-108326186

c.6936C>A; p.L2312L; 11:108326186-108326186

c.8356G>A; p.G2786S; 11:108343309-108343309

c.4436+7A>C; p.?; 11:108289808-108289808

c.4436+7A>C; p.?; 11:108289808-108289808

c.8426delA; p.K2811fs*46; 11:108345750-108345750

c.7686C>A; p.A2562A; 11:108331935-108331935

c.8095C>A; p.P2699T; 11:108335053-108335053

c.2448A>C; p.A816A; 11:108259057-108259057

c.6228T>C; p.I2076I; 11:108317402-108317402

c.1009C>T; p.R337C; 11:108247071-108247071

c.1009C>T; p.R337C; 11:108247071-108247071

c.1009C>T; p.R337C; 11:108247071-108247071

c.1009C>T; p.R337C; 11:108247071-108247071

c.1009C>T; p.R337C; 11:108247071-108247071

c.2465T>G; p.L822*; 11:108259074-108259074

c.2467G>A; p.A823T; 11:108267171-108267171

c.7328G>A; p.R2443Q; 11:108330234-108330234

c.6228T>C; p.I2076I; 11:108317402-108317402

c.1009C>T; p.R337C; 11:108247071-108247071

c.8426delA; p.K2811fs*46; 11:108345750-108345750

c.7328G>A; p.R2443Q; 11:108330234-108330234

c.7328G>A; p.R2443Q; 11:108330234-108330234

c.1009C>T; p.R337C; 11:108247071-108247071

c.1009C>T; p.R337C; 11:108247071-108247071

c.7328G>A; p.R2443Q; 11:108330234-108330234

c.7328G>A; p.R2443Q; 11:108330234-108330234

c.7328G>A; p.R2443Q; 11:108330234-108330234

c.1009C>T; p.R337C; 11:108247071-108247071

c.8095C>A; p.P2699T; 11:108335053-108335053

c.4387T>C; p.F1463L; 11:108289752-108289752

c.7328G>A; p.R2443Q; 11:108330234-108330234

c.8426delA; p.K2811fs*46; 11:108345750-108345750

c.1009C>T; p.R337C; 11:108247071-108247071

c.8095C>A; p.P2699T; 11:108335053-108335053

c.7328G>A; p.R2443Q; 11:108330234-108330234

c.4387T>C; p.F1463L; 11:108289752-108289752

c.1009C>T; p.R337C; 11:108247071-108247071

c.1009C>T; p.R337C; 11:108247071-108247071

c.1009C>T; p.R337C; 11:108247071-108247071

c.1009C>T; p.R337C; 11:108247071-108247071

c.1009C>T; p.R337C; 11:108247071-108247071

c.1009C>T; p.R337C; 11:108247071-108247071

c.1009C>T; p.R337C; 11:108247071-108247071

c.1009C>T; p.R337C; 11:108247071-108247071

c.4315C>A; p.L1439I; 11:108289680-108289680

c.1882C>T; p.Q628*; 11:108252896-108252896

c.4835A>G; p.E1612G; 11:108294985-108294985

c.872A>G; p.H291R; 11:108244997-108244997

c.4315C>A; p.L1439I; 11:108289680-108289680

c.4315C>A; p.L1439I; 11:108289680-108289680

c.3072_3073insT; p.W1026fs*22; 11:108271401-108271402

c.7222T>C; p.S2408P; 11:108329153-108329153

c.5875G>A; p.E1959K; 11:108310272-108310272

c.5044G>A; p.D1682N; 11:108299752-108299752

c.8450A>G; p.Y2817C; 11:108345774-108345774

c.6007-2A>G; p.?; 11:108315821-108315821

c.2119T>C; p.S707P; 11:108254034-108254034

c.4824delG; p.T1609fs*6; 11:108294974-108294974

c.3324delG; p.A1110fs*4; 11:108279530-108279530

c.4329C>T; p.H1443H; 11:108289694-108289694

c.3925G>A; p.A1309T; 11:108284405-108284405

c.4996G>T; p.E1666*; 11:108297373-108297373

c.3964C>A; p.L1322I; 11:108284444-108284444

c.3925G>A; p.A1309T; 11:108284405-108284405

c.8161G>T; p.D2721Y; 11:108335854-108335854

c.883G>C; p.A295P; 11:108245008-108245008

c.3324delG; p.A1110fs*4; 11:108279530-108279530

c.8161G>T; p.D2721Y; 11:108335854-108335854

c.8608G>A; p.D2870N; 11:108347302-108347302

c.2119T>C; p.S707P; 11:108254034-108254034

c.1055T>C; p.I352T; 11:108247117-108247117

c.4389T>C; p.F1463F; 11:108289754-108289754

c.8450A>G; p.Y2817C; 11:108345774-108345774

c.4389T>C; p.F1463F; 11:108289754-108289754

c.6009T>A; p.D2003E; 11:108315825-108315825

c.743G>A; p.R248Q; 11:108244868-108244868

c.2928_2929ins9; p.V976_C977ins3; 11:108271257-108271258

c.6815delA; p.R2273fs*37; 11:108326065-108326065

c.743G>A; p.R248Q; 11:108244868-108244868

c.2928_2929ins9; p.V976_C977ins3; 11:108271257-108271258

c.7255A>T; p.R2419*; 11:108329186-108329186

c.9007A>C; p.N3003H; 11:108365344-108365344

c.6572+5G>A; p.?; 11:108321425-108321425

c.3661T>C; p.W1221R; 11:108282794-108282794

c.6572+5G>A; p.?; 11:108321425-108321425

c.743G>A; p.R248Q; 11:108244868-108244868

c.8264A>C; p.Y2755S; 11:108335957-108335957

c.7240C>T; p.Q2414*; 11:108329171-108329171

c.8608G>T; p.D2870Y; 11:108347302-108347302

c.8535G>T; p.W2845C; 11:108345859-108345859

c.8787-1G>T; p.?; 11:108354810-108354810

c.6067G>A; p.G2023R; 11:108315883-108315883

c.3119T>C; p.M1040T; 11:108272573-108272573

c.407delT; p.Y137fs*16; 11:108235745-108235745

c.5077G>A; p.D1693N; 11:108299785-108299785

c.7736G>C; p.R2579T; 11:108331985-108331985

c.3119T>C; p.M1040T; 11:108272573-108272573

c.3314_3314delC; p.R1106fs*3; 11:108279520-108279520

c.6067G>A; p.G2023R; 11:108315883-108315883

c.8026G>T; p.E2676*; 11:108334984-108334984

c.5204C>A; p.T1735N; 11:108301674-108301674

c.3119T>C; p.M1040T; 11:108272573-108272573

c.8535G>T; p.W2845C; 11:108345859-108345859

c.8083G>T; p.G2695C; 11:108335041-108335041

c.1618T>C; p.C540R; 11:108251847-108251847

c.8862T>C; p.Y2954Y; 11:108365093-108365093

c.8083G>T; p.G2695C; 11:108335041-108335041

c.7639A>T; p.R2547*; 11:108331888-108331888

c.6940C>T; p.Q2314*; 11:108326190-108326190

c.5061_5115del55; p.I1688fs*8; 11:108299769-108299823

c.7047C>G; p.C2349W; 11:108327716-108327716

c.4703A>T; p.H1568L; 11:108293404-108293404

c.1153A>G; p.K385E; 11:108249020-108249020

c.7890_7891insTATTA; p.A2631fs*2; 11:108332863-108332864

c.1153A>G; p.K385E; 11:108249020-108249020

c.8911C>T; p.Q2971*; 11:108365142-108365142

c.638T>C; p.F213S; 11:108244094-108244094

c.1668A>G; p.K556K; 11:108251897-108251897

c.5415G>A; p.W1805*; 11:108302948-108302948

c.3506delA; p.K1170fs*11; 11:108281098-108281098

c.5935G>T; p.E1979*; 11:108312427-108312427

c.8732_8734delCCA; p.T2911delT; 11:108353826-108353828

c.6559G>T; p.E2187*; 11:108321407-108321407

c.8095C>T; p.P2699S; 11:108335053-108335053

c.4397G>A; p.R1466Q; 11:108289762-108289762

c.6394C>G; p.L2132V; 11:108320000-108320000

c.4397G>A; p.R1466Q; 11:108289762-108289762

c.2150G>A; p.R717Q; 11:108256240-108256240

c.8095C>T; p.P2699S; 11:108335053-108335053

c.3802_3802delG; p.V1268fs*1; 11:108284282-108284282

c.7879_7880insT; p.Y2627fs*29; 11:108332852-108332853

c.3706_3709delTTTA; p.I1237fs*2; 11:108282839-108282842

c.7196delA; p.R2400fs*6; 11:108329127-108329127

c.7349_7350insT; p.L2450fs*11; 11:108330255-108330256

c.9064_9065insG; p.E3022fs*37; 11:108365401-108365402

c.5033T>G; p.V1678G; 11:108299741-108299741

c.9151G>A; p.G3051R; 11:108365488-108365488

c.1120C>T; p.Q374*; 11:108248987-108248987

c.5401A>T; p.N1801Y; 11:108302934-108302934

c.3741C>A; p.F1247L; 11:108282874-108282874

c.3741C>A; p.F1247L; 11:108282874-108282874

c.7215G>A; p.M2405I; 11:108329146-108329146

c.6106T>A; p.Y2036N; 11:108316021-108316021

c.5634G>A; p.S1878S; 11:108304812-108304812

c.2815A>T; p.T939S; 11:108268586-108268586

c.7327C>G; p.R2443G; 11:108330233-108330233

c.4420C>G; p.H1474D; 11:108289785-108289785

c.5133C>T; p.T1711T; 11:108299841-108299841

c.8494C>A; p.R2832S; 11:108345818-108345818

c.2268A>T; p.A756A; 11:108257498-108257498

c.6101G>C; p.R2034P; 11:108316016-108316016

c.3646T>C; p.Y1216H; 11:108282779-108282779

c.1270C>T; p.P424S; 11:108250735-108250735

c.734T>C; p.V245A; 11:108244859-108244859

c.734T>C; p.V245A; 11:108244859-108244859

c.5619T>C; p.C1873C; 11:108304797-108304797

c.6494C>T; p.S2165F; 11:108321342-108321342

c.5228C>T; p.T1743I; 11:108301698-108301698

c.6439C>A; p.L2147I; 11:108320045-108320045

c.3623A>G; p.D1208G; 11:108282756-108282756

c.3623A>G; p.D1208G; 11:108282756-108282756

c.5496+2T>C; p.?; 11:108303031-108303031

c.2466+4A>C; p.?; 11:108259079-108259079

c.5918G>C; p.R1973T; 11:108310315-108310315

c.8071C>T; p.R2691C; 11:108335029-108335029

c.8071C>T; p.R2691C; 11:108335029-108335029

c.9152G>T; p.G3051V; 11:108365489-108365489

c.6573-3C>A; p.?; 11:108325307-108325307

c.1161G>C; p.K387N; 11:108249028-108249028

c.8071C>T; p.R2691C; 11:108335029-108335029

c.8071C>T; p.R2691C; 11:108335029-108335029

c.7480A>T; p.N2494Y; 11:108330386-108330386

c.4724G>T; p.R1575L; 11:108293425-108293425

c.7281T>A; p.L2427L; 11:108329212-108329212

c.685C>T; p.L229L; 11:108244810-108244810

c.2417T>G; p.L806W; 11:108259026-108259026

c.5536A>C; p.I1846L; 11:108304714-108304714

c.8670A>G; p.L2890L; 11:108347364-108347364

c.1339C>T; p.R447*; 11:108250804-108250804

c.1780delG; p.E594fs*20; 11:108252009-108252009

c.8670A>G; p.L2890L; 11:108347364-108347364

c.8670A>G; p.L2890L; 11:108347364-108347364

c.875C>T; p.P292L; 11:108245000-108245000

c.3994_4109+3del; p.I1332fs*7; 11:108287600-108287715

c.6200C>A; p.A2067D; 11:108317374-108317374

c.1339C>T; p.R447*; 11:108250804-108250804

c.9089G>T; p.G3030V; 11:108365426-108365426

c.5734G>A; p.V1912I; 11:108307956-108307956

c.5309C>G; p.S1770*; 11:108301779-108301779

c.446_449delTTCT; p.S151fs*1; 11:108235784-108235787

c.7472G>T; p.W2491L; 11:108330378-108330378

c.2838+9C>T; p.?; 11:108268618-108268618

c.8697C>T; p.I2899I; 11:108353791-108353791

c.40C>T; p.Q14*; 11:108227664-108227664

c.4801_4802insA; p.S1601fs*4; 11:108294951-108294952

c.8933_8933delC; p.T2978fs*7; 11:108365164-108365164

c.8080G>A; p.G2694R; 11:108335038-108335038

c.8152G>C; p.G2718R; 11:108335845-108335845

c.5980A>G; p.K1994E; 11:108312472-108312472

c.1748A>G; p.Y583C; 11:108251977-108251977

c.319T>C; p.C107R; 11:108229311-108229311

c.5783T>G; p.F1928C; 11:108310180-108310180

c.8787-2A>G; p.?; 11:108354809-108354809

c.731C>T; p.A244V; 11:108244856-108244856

c.7865C>T; p.A2622V; 11:108332838-108332838

c.968T>G; p.I323R; 11:108247030-108247030

c.7519G>A; p.D2507N; 11:108331447-108331447

c.968T>G; p.I323R; 11:108247030-108247030

c.8852T>A; p.V2951D; 11:108365083-108365083

c.5170G>C; p.E1724Q; 11:108299878-108299878

c.7566A>T; p.Q2522H; 11:108331494-108331494

c.3677A>G; p.D1226G; 11:108282810-108282810

c.1006_1020del15; p.F336_A340delFRNIA; 11:108247068-108247082

c.9054A>C; p.K3018N; 11:108365391-108365391

c.8852T>A; p.V2951D; 11:108365083-108365083

c.2309A>G; p.E770G; 11:108257539-108257539

c.3283A>G; p.R1095G; 11:108272851-108272851

c.6683C>T; p.T2228I; 11:108325420-108325420

c.2872G>T; p.E958*; 11:108271097-108271097

c.1045A>G; p.M349V; 11:108247107-108247107

c.7057C>A; p.P2353T; 11:108327726-108327726

c.3570_3571insA; p.V1193fs*7; 11:108281162-108281163

c.2654T>A; p.L885*; 11:108268425-108268425

c.3182T>C; p.L1061P; 11:108272750-108272750

c.2864C>T; p.P955L; 11:108271089-108271089

c.1045A>G; p.M349V; 11:108247107-108247107

c.5319+2T>C; p.?; 11:108301791-108301791

c.2639-10T>G; p.?; 11:108268400-108268400

c.8430_8432delAAA; p.K2811delK; 11:108345754-108345756

c.8056T>C; p.F2686L; 11:108335014-108335014

c.8575T>C; p.S2859P; 11:108345899-108345899

c.5347G>T; p.E1783*; 11:108302880-108302880

c.8430_8432delAAA; p.K2811delK; 11:108345754-108345756

c.388G>T; p.D130Y; 11:108235726-108235726

c.8596C>A; p.L2866I; 11:108347290-108347290

c.2921+1G>A; p.?; 11:108271147-108271147

c.7241A>G; p.Q2414R; 11:108329172-108329172

c.5859A>G; p.T1953T; 11:108310256-108310256

c.5859A>G; p.T1953T; 11:108310256-108310256

c.8079_8081delAGG; p.G2695delG; 11:108335037-108335039

c.5859A>G; p.T1953T; 11:108310256-108310256

c.7241A>G; p.Q2414R; 11:108329172-108329172

c.8079_8081delAGG; p.G2695delG; 11:108335037-108335039

c.8525C>T; p.P2842L; 11:108345849-108345849

c.2921+1G>A; p.?; 11:108271147-108271147

c.2921+1G>A; p.?; 11:108271147-108271147

c.3162T>C; p.P1054P; 11:108272730-108272730

c.8525C>T; p.P2842L; 11:108345849-108345849

c.68G>A; p.R23Q; 11:108227692-108227692

c.7280T>G; p.L2427R; 11:108329211-108329211

c.5042T>C; p.I1681T; 11:108299750-108299750

c.2146G>C; p.V716L; 11:108256236-108256236

c.4407T>G; p.I1469M; 11:108289772-108289772

c.4407T>G; p.I1469M; 11:108289772-108289772

c.68G>A; p.R23Q; 11:108227692-108227692

c.68G>A; p.R23Q; 11:108227692-108227692

c.68G>A; p.R23Q; 11:108227692-108227692

c.5748_5750delGAG; p.M1916_R1917>I; 11:108307970-108307972

c.5042T>C; p.I1681T; 11:108299750-108299750

c.8530A>G; p.I2844V; 11:108345854-108345854

c.7280T>G; p.L2427R; 11:108329211-108329211

c.632A>G; p.D211G; 11:108244088-108244088

c.8530A>G; p.I2844V; 11:108345854-108345854

c.5910delA; p.E1971fs*19; 11:108310307-108310307

c.8861A>G; p.Y2954C; 11:108365092-108365092

c.8457C>A; p.V2819V; 11:108345781-108345781

c.7310A>G; p.Y2437C; 11:108330216-108330216

c.8377C>A; p.P2793T; 11:108343330-108343330

c.4316T>C; p.L1439P; 11:108289681-108289681

c.8861A>G; p.Y2954C; 11:108365092-108365092

c.4316T>C; p.L1439P; 11:108289681-108289681

c.8861A>G; p.Y2954C; 11:108365092-108365092

c.7464T>A; p.C2488*; 11:108330370-108330370

c.8861A>G; p.Y2954C; 11:108365092-108365092

c.8861A>G; p.Y2954C; 11:108365092-108365092

c.3707T>A; p.F1236Y; 11:108282840-108282840

c.6679C>T; p.R2227C; 11:108325416-108325416

c.1009C>A; p.R337S; 11:108247071-108247071

c.4610A>T; p.Q1537L; 11:108292792-108292792

c.6057T>C; p.Y2019Y; 11:108315873-108315873

c.4040T>G; p.L1347*; 11:108287646-108287646

c.6679C>T; p.R2227C; 11:108325416-108325416

c.4476C>T; p.S1492S; 11:108292658-108292658

c.8875G>C; p.D2959H; 11:108365106-108365106

c.8228C>T; p.T2743M; 11:108335921-108335921

c.5600A>C; p.Q1867P; 11:108304778-108304778

c.4993_4996delAAAG; p.E1666fs*2; 11:108297370-108297373

c.1009C>A; p.R337S; 11:108247071-108247071

c.1564G>T; p.E522*; 11:108251029-108251029

c.1564G>T; p.E522*; 11:108251029-108251029

c.7289A>G; p.H2430R; 11:108329220-108329220

c.1671_1672GG>C; p.M557fs*3; 11:108251900-108251901

c.8144T>G; p.L2715R; 11:108335102-108335102

c.5762+1G>T; p.?; 11:108307985-108307985

c.3077+2T>C; p.?; 11:108271408-108271408

c.6805C>T; p.Q2269*; 11:108325542-108325542

c.835_836delAT; p.I279fs*2; 11:108244960-108244961

c.8017C>T; p.H2673Y; 11:108334975-108334975

c.4362A>C; p.K1454N; 11:108289727-108289727

c.6041A>G; p.E2014G; 11:108315857-108315857

c.7878_7882delTTATA; p.I2629fs*25; 11:108332851-108332855

c.6419T>G; p.F2140C; 11:108320025-108320025

c.4222C>A; p.L1408I; 11:108289089-108289089

c.4222C>A; p.L1408I; 11:108289089-108289089

c.775C>T; p.L259F; 11:108244900-108244900

c.6041A>G; p.E2014G; 11:108315857-108315857

c.8017C>T; p.H2673Y; 11:108334975-108334975

c.4222C>A; p.L1408I; 11:108289089-108289089

c.8987+2T>G; p.?; 11:108365220-108365220

c.5421G>A; p.K1807K; 11:108302954-108302954

c.3994-1G>T; p.?; 11:108287599-108287599

c.5015G>T; p.G1672V; 11:108299723-108299723

c.6128G>T; p.G2043V; 11:108316043-108316043

c.8545C>T; p.R2849*; 11:108345869-108345869

c.8534_8535GG>AA; p.W2845*; 11:108345858-108345859

c.7183G>A; p.D2395N; 11:108329114-108329114

c.7187C>G; p.T2396S; 11:108329118-108329118

c.8171A>G; p.Q2724R; 11:108335864-108335864

c.6789A>G; p.R2263R; 11:108325526-108325526

c.6215G>A; p.G2072E; 11:108317389-108317389

c.7620C>T; p.V2540V; 11:108331548-108331548

c.2320G>T; p.G774C; 11:108257550-108257550

c.8285A>G; p.Q2762R; 11:108343238-108343238

c.8285A>G; p.Q2762R; 11:108343238-108343238

c.8486C>T; p.P2829L; 11:108345810-108345810

c.4755A>C; p.R1585S; 11:108293456-108293456

c.7515delG; p.R2506fs*4; 11:108330421-108330421

c.103C>T; p.R35*; 11:108227806-108227806

c.5130G>A; p.W1710*; 11:108299838-108299838

c.4367G>A; p.G1456D; 11:108289732-108289732

c.2122G>T; p.E708*; 11:108254037-108254037

c.73_76delAAAG; p.E26fs*7; 11:108227776-108227779

c.8160T>A; p.D2720E; 11:108335853-108335853

c.9008A>G; p.N3003S; 11:108365345-108365345

c.742C>T; p.R248*; 11:108244867-108244867

c.1562_1563delGA; p.E522fs*43; 11:108251027-108251028

c.217_218delGA; p.E73fs*26; 11:108229209-108229210

c.217_218delGA; p.E73fs*26; 11:108229209-108229210

c.1346G>T; p.G449V; 11:108250811-108250811

c.7354C>G; p.L2452V; 11:108330260-108330260

c.728T>C; p.L243S; 11:108244853-108244853

c.8158G>A; p.D2720N; 11:108335851-108335851

c.12A>G; p.V4V; 11:108227636-108227636

c.2823C>T; p.S941S; 11:108268594-108268594

c.2572T>C; p.F858L; 11:108267276-108267276

c.566G>A; p.R189K; 11:108244022-108244022

c.2572T>C; p.F858L; 11:108267276-108267276

c.2572T>C; p.F858L; 11:108267276-108267276

c.1280T>A; p.L427*; 11:108250745-108250745

c.2572T>C; p.F858L; 11:108267276-108267276

c.2572T>C; p.F858L; 11:108267276-108267276

c.2572T>C; p.F858L; 11:108267276-108267276

c.2572T>C; p.F858L; 11:108267276-108267276

c.2572T>C; p.F858L; 11:108267276-108267276

c.2378A>G; p.K793R; 11:108258987-108258987

c.2572T>C; p.F858L; 11:108267276-108267276

c.3993+2T>C; p.?; 11:108284475-108284475

c.171G>A; p.W57*; 11:108227874-108227874

c.6957G>A; p.L2319L; 11:108326207-108326207

c.2501_2502insA; p.V835fs*7; 11:108267205-108267206

c.3993+2T>C; p.?; 11:108284475-108284475

c.2684delT; p.L895fs*4; 11:108268455-108268455

c.7314A>G; p.T2438T; 11:108330220-108330220

c.1477C>T; p.R493C; 11:108250942-108250942

c.1634C>A; p.A545E; 11:108251863-108251863

c.486A>G; p.Q162Q; 11:108235824-108235824

c.8948C>G; p.T2983S; 11:108365179-108365179

c.171G>A; p.W57*; 11:108227874-108227874

c.1435G>T; p.D479Y; 11:108250900-108250900

c.8851-8C>G; p.?; 11:108365074-108365074

c.7249C>A; p.L2417M; 11:108329180-108329180

c.6115G>A; p.E2039K; 11:108316030-108316030

c.2251-4A>G; p.?; 11:108257477-108257477

c.8851-8C>G; p.?; 11:108365074-108365074

c.1435G>T; p.D479Y; 11:108250900-108250900

c.2020C>T; p.H674Y; 11:108253935-108253935

c.7249C>A; p.L2417M; 11:108329180-108329180

c.7267G>A; p.E2423K; 11:108329198-108329198

c.1435G>T; p.D479Y; 11:108250900-108250900

c.3886C>T; p.P1296S; 11:108284366-108284366

c.1569C>T; p.F523F; 11:108251034-108251034

c.6115G>A; p.E2039K; 11:108316030-108316030

c.1050A>G; p.A350A; 11:108247112-108247112

c.8851-8C>G; p.?; 11:108365074-108365074

c.8625T>A; p.N2875K; 11:108347319-108347319

c.1058_1059delGT; p.C353fs*5; 11:108247120-108247121

c.7066A>T; p.I2356F; 11:108327735-108327735

c.7066A>T; p.I2356F; 11:108327735-108327735

c.6146_6146delA; p.Y2049fs*33; 11:108316061-108316061

c.7066A>T; p.I2356F; 11:108327735-108327735

c.528G>C; p.L176L; 11:108243984-108243984

c.780_781insA; p.T261fs*10; 11:108244905-108244906

c.6011T>G; p.L2004R; 11:108315827-108315827

c.5749_5762+7del21; p.?; 11:108307971-108307991

c.5623C>T; p.R1875*; 11:108304801-108304801

c.1841G>A; p.S614N; 11:108252855-108252855

c.6463G>A; p.V2155M; 11:108321311-108321311

c.5623C>T; p.R1875*; 11:108304801-108304801

c.3966T>A; p.L1322L; 11:108284446-108284446

c.1058_1059delGT; p.C353fs*5; 11:108247120-108247121

c.6975+2T>C; p.?; 11:108326227-108326227

c.8317_8318insCTGT; p.P2775fs*5; 11:108343270-108343271

c.9027_9029delCTT; p.L3010delL; 11:108365364-108365366

c.5558A>G; p.D1853G; 11:108304736-108304736

c.6280G>A; p.E2094K; 11:108317454-108317454

c.4415T>C; p.L1472S; 11:108289780-108289780

c.2077_2098>G; p.C693_Q700>E; 11:108253992-108254013

c.7438C>T; p.H2480Y; 11:108330344-108330344

c.7681C>A; p.L2561M; 11:108331930-108331930

c.8122G>A; p.D2708N; 11:108335080-108335080

c.5558A>G; p.D1853G; 11:108304736-108304736

c.5558A>G; p.D1853G; 11:108304736-108304736

c.8057T>G; p.F2686C; 11:108335015-108335015

c.6031_6032delAG; p.S2011fs*6; 11:108315847-108315848

c.9108A>T; p.I3036I; 11:108365445-108365445

c.6821C>T; p.A2274V; 11:108326071-108326071

c.7638_7646delTAGAATTTC; p.R2547_S2549delRIS; 11:108331887-108331895

c.3350A>C; p.Q1117P; 11:108279556-108279556

c.6789A>C; p.R2263S; 11:108325526-108325526

c.5995A>G; p.I1999V; 11:108312487-108312487

c.8178T>A; p.A2726A; 11:108335871-108335871

c.6126G>A; p.W2042*; 11:108316041-108316041

c.71A>C; p.K24T; 11:108227695-108227695

c.8860T>A; p.Y2954N; 11:108365091-108365091

c.4883T>A; p.M1628K; 11:108295033-108295033

c.8094A>T; p.L2698F; 11:108335052-108335052

c.2929T>A; p.C977S; 11:108271258-108271258

c.9096G>A; p.V3032V; 11:108365433-108365433

c.8174A>G; p.D2725G; 11:108335867-108335867

c.8174A>G; p.D2725G; 11:108335867-108335867

c.6109G>T; p.E2037*; 11:108316024-108316024

c.1230G>A; p.V410V; 11:108249097-108249097

c.8174A>G; p.D2725G; 11:108335867-108335867

c.1875delT; p.F627fs*22; 11:108252889-108252889

c.6109G>T; p.E2037*; 11:108316024-108316024

c.6096-1G>A; p.?; 11:108316010-108316010

c.7515+1_7515+2delGC; p.?; 11:108330422-108330423

c.6109G>T; p.E2037*; 11:108316024-108316024

c.8668C>G; p.L2890V; 11:108347362-108347362

c.8668C>G; p.L2890V; 11:108347362-108347362

c.7375C>T; p.R2459C; 11:108330281-108330281

c.8668C>G; p.L2890V; 11:108347362-108347362

c.6185C>T; p.A2062V; 11:108316100-108316100

c.1A>T; p.M1L; 11:108227625-108227625

c.8668C>G; p.L2890V; 11:108347362-108347362

c.3720_3736del17; p.N1240fs*4; 11:108282853-108282869

c.9153A>G; p.G3051G; 11:108365490-108365490

c.4498C>T; p.Q1500*; 11:108292680-108292680

c.6185C>T; p.A2062V; 11:108316100-108316100

c.8668C>G; p.L2890V; 11:108347362-108347362

c.8668C>G; p.L2890V; 11:108347362-108347362

c.8050C>T; p.Q2684*; 11:108335008-108335008

c.7576A>G; p.R2526G; 11:108331504-108331504

c.8668C>G; p.L2890V; 11:108347362-108347362

c.7162C>T; p.L2388F; 11:108329093-108329093

c.8525C>G; p.P2842R; 11:108345849-108345849

c.8525C>G; p.P2842R; 11:108345849-108345849

c.8663T>C; p.I2888T; 11:108347357-108347357

c.1817T>A; p.L606H; 11:108252831-108252831

c.3077+1G>C; p.?; 11:108271407-108271407

c.488A>G; p.Q163R; 11:108235826-108235826

c.7246C>G; p.L2416V; 11:108329177-108329177

c.8663T>C; p.I2888T; 11:108347357-108347357

c.8663T>C; p.I2888T; 11:108347357-108347357

c.8663T>C; p.I2888T; 11:108347357-108347357

c.6040G>A; p.E2014K; 11:108315856-108315856

c.9139C>T; p.R3047*; 11:108365476-108365476

c.649A>G; p.I217V; 11:108244105-108244105

c.8339T>A; p.L2780H; 11:108343292-108343292

c.7295T>G; p.I2432S; 11:108329226-108329226

c.8624A>G; p.N2875S; 11:108347318-108347318

c.9139C>T; p.R3047*; 11:108365476-108365476

c.2705_2706insA; p.F903fs*17; 11:108268476-108268477

c.9139C>T; p.R3047*; 11:108365476-108365476

c.9139C>T; p.R3047*; 11:108365476-108365476

c.3383A>G; p.Q1128R; 11:108279589-108279589

c.9139C>T; p.R3047*; 11:108365476-108365476

c.649A>G; p.I217V; 11:108244105-108244105

c.3383A>G; p.Q1128R; 11:108279589-108279589

c.9139C>T; p.R3047*; 11:108365476-108365476

c.7343A>C; p.D2448A; 11:108330249-108330249

c.8624A>G; p.N2875S; 11:108347318-108347318

c.8624A>G; p.N2875S; 11:108347318-108347318

c.9139C>T; p.R3047*; 11:108365476-108365476

c.7343A>C; p.D2448A; 11:108330249-108330249

c.829_830delGA; p.E277fs*4; 11:108244954-108244955

c.7182A>G; p.S2394S; 11:108329113-108329113

c.8671G>C; p.G2891R; 11:108347365-108347365

c.105A>G; p.R35R; 11:108227808-108227808

c.8860T>C; p.Y2954H; 11:108365091-108365091

c.3075T>G; p.F1025L; 11:108271404-108271404

c.5858C>G; p.T1953R; 11:108310255-108310255

c.7182A>G; p.S2394S; 11:108329113-108329113

c.7182A>G; p.S2394S; 11:108329113-108329113

c.7182A>G; p.S2394S; 11:108329113-108329113

c.8577T>C; p.S2859S; 11:108345901-108345901

c.9007A>G; p.N3003D; 11:108365344-108365344

c.5380C>T; p.L1794L; 11:108302913-108302913

c.5380C>T; p.L1794L; 11:108302913-108302913

c.5380C>T; p.L1794L; 11:108302913-108302913