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.11015C>T; p.S3672F; 11:62523402-62523402

c.14752G>T; p.A4918S; 11:62519665-62519665

c.9982G>T; p.D3328Y; 11:62524435-62524435

c.16293C>T; p.G5431G; 11:62518124-62518124

c.14752G>T; p.A4918S; 11:62519665-62519665

c.8029G>C; p.E2677Q; 11:62526388-62526388

c.12688G>T; p.D4230Y; 11:62521729-62521729

c.258G>A; p.L86L; 11:62535087-62535087

c.14475C>T; p.I4825I; 11:62519942-62519942

c.271G>A; p.D91N; 11:62535074-62535074

c.8038G>C; p.D2680H; 11:62526379-62526379

c.8675T>C; p.L2892P; 11:62525742-62525742

c.4436A>T; p.E1479V; 11:62529981-62529981

c.13535T>C; p.V4512A; 11:62520882-62520882

c.10252C>T; p.P3418S; 11:62524165-62524165

c.1000C>T; p.P334S; 11:62533417-62533417

c.8827G>C; p.E2943Q; 11:62525590-62525590

c.8827G>C; p.E2943Q; 11:62525590-62525590

c.1893G>T; p.M631I; 11:62532524-62532524

c.11002G>T; p.A3668S; 11:62523415-62523415

c.16969A>C; p.T5657P; 11:62517448-62517448

c.12488T>G; p.V4163G; 11:62521929-62521929

c.10664C>T; p.P3555L; 11:62523753-62523753

c.5240G>A; p.S1747N; 11:62529177-62529177

c.7832C>T; p.P2611L; 11:62526585-62526585

c.12439G>A; p.V4147M; 11:62521978-62521978

c.17044G>T; p.V5682F; 11:62517373-62517373

c.9409C>T; p.P3137S; 11:62525008-62525008

c.803G>T; p.G268V; 11:62533614-62533614

c.12852T>C; p.G4284G; 11:62521565-62521565

c.11486_11487CC>TT; p.P3829L; 11:62522930-62522931

c.4614C>T; p.D1538D; 11:62529803-62529803

c.7189A>T; p.S2397C; 11:62527228-62527228

c.16417G>A; p.G5473S; 11:62518000-62518000

c.17327C>T; p.P5776L; 11:62517090-62517090

c.13480G>A; p.D4494N; 11:62520937-62520937

c.8097G>T; p.E2699D; 11:62526320-62526320

c.5133A>G; p.K1711K; 11:62529284-62529284

c.12156T>A; p.H4052Q; 11:62522261-62522261

c.13192A>T; p.K4398*; 11:62521225-62521225

c.14448G>A; p.V4816V; 11:62519969-62519969

c.12825G>C; p.V4275V; 11:62521592-62521592

c.15352C>A; p.Q5118K; 11:62519065-62519065

c.5829G>T; p.S1943S; 11:62528588-62528588

c.2182G>T; p.G728C; 11:62532235-62532235

c.7568T>G; p.F2523C; 11:62526849-62526849

c.5471C>T; p.A1824V; 11:62528946-62528946

c.5829G>T; p.S1943S; 11:62528588-62528588

c.1077C>T; p.P359P; 11:62533340-62533340

c.8709C>T; p.S2903S; 11:62525708-62525708

c.1077C>T; p.P359P; 11:62533340-62533340

c.14487C>T; p.D4829D; 11:62519930-62519930

c.8709C>T; p.S2903S; 11:62525708-62525708

c.13477G>A; p.V4493I; 11:62520940-62520940

c.12067C>G; p.L4023V; 11:62522350-62522350

c.13486G>A; p.E4496K; 11:62520931-62520931

c.5458C>T; p.P1820S; 11:62528959-62528959

c.5756C>T; p.A1919V; 11:62528661-62528661

c.410A>G; p.D137G; 11:62534007-62534007

c.3979G>A; p.D1327N; 11:62530438-62530438

c.1300A>G; p.M434V; 11:62533117-62533117

c.7594G>A; p.V2532I; 11:62526823-62526823

c.8225A>G; p.D2742G; 11:62526192-62526192

c.15375T>C; p.S5125S; 11:62519042-62519042

c.1300A>G; p.M434V; 11:62533117-62533117

c.5633C>T; p.P1878L; 11:62528784-62528784

c.9145G>A; p.A3049T; 11:62525272-62525272

c.8665G>C; p.D2889H; 11:62525752-62525752

c.5633C>T; p.P1878L; 11:62528784-62528784

c.5557C>T; p.P1853S; 11:62528860-62528860

c.4405T>C; p.Y1469H; 11:62530012-62530012

c.13221G>A; p.L4407L; 11:62521196-62521196

c.16752T>G; p.G5584G; 11:62517665-62517665

c.2462C>T; p.P821L; 11:62531955-62531955

c.8665G>C; p.D2889H; 11:62525752-62525752

c.16120C>A; p.L5374M; 11:62518297-62518297

c.12142G>A; p.D4048N; 11:62522275-62522275

c.3317C>T; p.P1106L; 11:62531100-62531100

c.176C>T; p.T59I; 11:62535169-62535169

c.1783G>A; p.E595K; 11:62532634-62532634

c.8767G>T; p.V2923F; 11:62525650-62525650

c.10918G>A; p.V3640I; 11:62523499-62523499

c.2585A>T; p.D862V; 11:62531832-62531832

c.10570G>T; p.G3524*; 11:62523847-62523847

c.2619G>A; p.W873*; 11:62531798-62531798

c.8847C>A; p.P2949P; 11:62525570-62525570

c.13891G>T; p.D4631Y; 11:62520526-62520526

c.5007G>T; p.G1669G; 11:62529410-62529410

c.15428T>G; p.V5143G; 11:62518989-62518989

c.2619G>A; p.W873*; 11:62531798-62531798

c.3452C>G; p.P1151R; 11:62530965-62530965

c.10539G>A; p.E3513E; 11:62523878-62523878

c.14104G>A; p.A4702T; 11:62520313-62520313

c.11288T>A; p.V3763E; 11:62523129-62523129

c.10006G>A; p.V3336I; 11:62524411-62524411

c.559C>T; p.H187Y; 11:62533858-62533858

c.12224G>C; p.G4075A; 11:62522193-62522193

c.4949C>A; p.A1650D; 11:62529468-62529468

c.5776G>A; p.D1926N; 11:62528641-62528641

c.1206C>T; p.P402P; 11:62533211-62533211

c.12199A>T; p.K4067*; 11:62522218-62522218

c.5459C>T; p.P1820L; 11:62528958-62528958

c.445C>T; p.R149C; 11:62533972-62533972

c.5459C>T; p.P1820L; 11:62528958-62528958

c.11917C>G; p.P3973A; 11:62522500-62522500

c.9438G>A; p.W3146*; 11:62524979-62524979

c.5992C>T; p.L1998L; 11:62528425-62528425

c.2446C>T; p.P816S; 11:62531971-62531971

c.9187C>G; p.P3063A; 11:62525230-62525230

c.2538G>A; p.E846E; 11:62531879-62531879

c.12616C>T; p.P4206S; 11:62521801-62521801

c.5542A>T; p.M1848L; 11:62528875-62528875

c.7459A>G; p.M2487V; 11:62526958-62526958

c.5879T>C; p.V1960A; 11:62528538-62528538

c.12616C>T; p.P4206S; 11:62521801-62521801

c.15243G>T; p.K5081N; 11:62519174-62519174

c.11649delA; p.G3884fs*4; 11:62522768-62522768

c.5818G>A; p.V1940M; 11:62528599-62528599

c.14876A>G; p.D4959G; 11:62519541-62519541

c.11884G>C; p.D3962H; 11:62522533-62522533

c.8602G>T; p.E2868*; 11:62525815-62525815

c.7111A>T; p.T2371S; 11:62527306-62527306

c.3723A>C; p.P1241P; 11:62530694-62530694

c.11163C>G; p.I3721M; 11:62523254-62523254

c.4137C>A; p.H1379Q; 11:62530280-62530280

c.9773C>T; p.P3258L; 11:62524644-62524644

c.9127G>A; p.D3043N; 11:62525290-62525290

c.15987C>G; p.L5329L; 11:62518430-62518430

c.16811C>T; p.S5604F; 11:62517606-62517606

c.2039T>G; p.L680R; 11:62532378-62532378

c.2039T>G; p.L680R; 11:62532378-62532378

c.7220A>G; p.D2407G; 11:62527197-62527197

c.11044G>T; p.G3682*; 11:62523373-62523373

c.15851G>A; p.G5284E; 11:62518566-62518566

c.2412delC; p.K805fs*7; 11:62532005-62532005

c.16150A>G; p.K5384E; 11:62518267-62518267

c.133C>A; p.R45S; 11:62535966-62535966

c.16150A>G; p.K5384E; 11:62518267-62518267

c.5279C>T; p.P1760L; 11:62529138-62529138

c.1828G>T; p.V610L; 11:62532589-62532589

c.16054G>T; p.A5352S; 11:62518363-62518363

c.3215T>C; p.V1072A; 11:62531202-62531202

c.12366G>A; p.L4122L; 11:62522051-62522051

c.10565C>T; p.P3522L; 11:62523852-62523852

c.14422G>A; p.D4808N; 11:62519995-62519995

c.3077A>C; p.N1026T; 11:62531340-62531340

c.9876G>T; p.K3292N; 11:62524541-62524541

c.3077A>C; p.N1026T; 11:62531340-62531340

c.15643G>A; p.V5215M; 11:62518774-62518774

c.6898T>C; p.F2300L; 11:62527519-62527519

c.13108G>T; p.G4370C; 11:62521309-62521309

c.9543C>G; p.V3181V; 11:62524874-62524874

c.6393C>G; p.V2131V; 11:62528024-62528024

c.14256C>T; p.G4752G; 11:62520161-62520161

c.13927G>A; p.V4643I; 11:62520490-62520490

c.4675G>A; p.E1559K; 11:62529742-62529742

c.6039G>T; p.K2013N; 11:62528378-62528378

c.4599C>G; p.N1533K; 11:62529818-62529818

c.11420T>G; p.V3807G; 11:62522997-62522997

c.11897C>T; p.P3966L; 11:62522520-62522520

c.14756C>T; p.P4919L; 11:62519661-62519661

c.13072G>T; p.D4358Y; 11:62521345-62521345

c.8333G>A; p.G2778D; 11:62526084-62526084

c.11383G>T; p.V3795F; 11:62523034-62523034

c.8333G>A; p.G2778D; 11:62526084-62526084

c.11547C>T; p.I3849I; 11:62522870-62522870

c.12364C>T; p.L4122L; 11:62522053-62522053

c.3702C>G; p.P1234P; 11:62530715-62530715

c.16294G>A; p.E5432K; 11:62518123-62518123

c.76G>T; p.A26S; 11:62536023-62536023

c.14505C>A; p.P4835P; 11:62519912-62519912

c.3361G>C; p.D1121H; 11:62531056-62531056

c.16294G>A; p.E5432K; 11:62518123-62518123

c.8049T>A; p.I2683I; 11:62526368-62526368

c.13349C>T; p.P4450L; 11:62521068-62521068

c.6722T>C; p.L2241P; 11:62527695-62527695

c.11907C>T; p.D3969D; 11:62522510-62522510

c.8811T>C; p.V2937V; 11:62525606-62525606

c.6993T>C; p.D2331D; 11:62527424-62527424

c.8131G>A; p.D2711N; 11:62526286-62526286

c.6349A>G; p.I2117V; 11:62528068-62528068

c.7731C>T; p.P2577P; 11:62526686-62526686

c.15636C>T; p.V5212V; 11:62518781-62518781

c.3945G>A; p.E1315E; 11:62530472-62530472

c.2167G>C; p.E723Q; 11:62532250-62532250

c.14632T>G; p.L4878V; 11:62519785-62519785

c.14748A>C; p.V4916V; 11:62519669-62519669

c.10933delG; p.V3645fs*1; 11:62523484-62523484

c.5036A>G; p.E1679G; 11:62529381-62529381

c.16434A>C; p.G5478G; 11:62517983-62517983

c.16228C>T; p.Q5410*; 11:62518189-62518189

c.12380C>T; p.P4127L; 11:62522037-62522037

c.14348T>G; p.V4783G; 11:62520069-62520069

c.16228C>T; p.Q5410*; 11:62518189-62518189

c.14379C>T; p.F4793F; 11:62520038-62520038

c.5359G>T; p.D1787Y; 11:62529058-62529058

c.5438C>T; p.P1813L; 11:62528979-62528979

c.437_438CC>TT; p.T146I; 11:62533979-62533980

c.15065A>C; p.K5022T; 11:62519352-62519352

c.4709C>T; p.P1570L; 11:62529708-62529708

c.10544C>T; p.P3515L; 11:62523873-62523873

c.6633T>G; p.G2211G; 11:62527784-62527784

c.8341G>T; p.G2781*; 11:62526076-62526076

c.4629A>T; p.G1543G; 11:62529788-62529788

c.1419G>A; p.E473E; 11:62532998-62532998

c.8098A>G; p.M2700V; 11:62526319-62526319

c.12218T>G; p.F4073C; 11:62522199-62522199

c.5819T>C; p.V1940A; 11:62528598-62528598

c.2050G>A; p.D684N; 11:62532367-62532367

c.16762T>G; p.L5588V; 11:62517655-62517655

c.2329G>A; p.D777N; 11:62532088-62532088

c.5272G>A; p.E1758K; 11:62529145-62529145

c.5819T>C; p.V1940A; 11:62528598-62528598

c.5819T>C; p.V1940A; 11:62528598-62528598

c.13977G>C; p.K4659N; 11:62520440-62520440

c.3721C>T; p.P1241S; 11:62530696-62530696

c.5819T>C; p.V1940A; 11:62528598-62528598

c.5819T>C; p.V1940A; 11:62528598-62528598

c.5819T>C; p.V1940A; 11:62528598-62528598

c.11839G>T; p.G3947*; 11:62522578-62522578

c.4105C>T; p.P1369S; 11:62530312-62530312

c.7881G>T; p.V2627V; 11:62526536-62526536

c.5819T>C; p.V1940A; 11:62528598-62528598

c.14323G>A; p.D4775N; 11:62520094-62520094

c.15372T>G; p.L5124L; 11:62519045-62519045

c.13620C>T; p.S4540S; 11:62520797-62520797

c.9265C>A; p.P3089T; 11:62525152-62525152

c.1969_1970insA; p.I657fs*25; 11:62532447-62532448

c.304C>T; p.R102C; 11:62535041-62535041

c.11017A>G; p.M3673V; 11:62523400-62523400

c.8793C>T; p.D2931D; 11:62525624-62525624

c.7225C>T; p.P2409S; 11:62527192-62527192

c.5569A>G; p.M1857V; 11:62528848-62528848

c.3943G>C; p.E1315Q; 11:62530474-62530474

c.3745G>A; p.D1249N; 11:62530672-62530672

c.17529T>A; p.D5843E; 11:62516888-62516888

c.16247C>T; p.P5416L; 11:62518170-62518170

c.3745G>A; p.D1249N; 11:62530672-62530672

c.11595G>A; p.E3865E; 11:62522822-62522822

c.9692C>T; p.P3231L; 11:62524725-62524725

c.11924T>C; p.V3975A; 11:62522493-62522493

c.9368C>A; p.P3123H; 11:62525049-62525049

c.4261G>A; p.E1421K; 11:62530156-62530156

c.3423C>T; p.G1141G; 11:62530994-62530994

c.13171G>A; p.D4391N; 11:62521246-62521246

c.8035C>T; p.P2679S; 11:62526382-62526382

c.7634A>G; p.K2545R; 11:62526783-62526783

c.7830C>T; p.G2610G; 11:62526587-62526587

c.1291G>A; p.V431M; 11:62533126-62533126

c.7799C>A; p.S2600Y; 11:62526618-62526618

c.4261G>A; p.E1421K; 11:62530156-62530156

c.4375C>T; p.H1459Y; 11:62530042-62530042

c.13189C>T; p.P4397S; 11:62521228-62521228

c.9007C>A; p.Q3003K; 11:62525410-62525410

c.9007C>A; p.Q3003K; 11:62525410-62525410

c.9007C>A; p.Q3003K; 11:62525410-62525410

c.9007C>A; p.Q3003K; 11:62525410-62525410

c.9007C>A; p.Q3003K; 11:62525410-62525410

c.9007C>A; p.Q3003K; 11:62525410-62525410

c.1897A>G; p.M633V; 11:62532520-62532520

c.9007C>A; p.Q3003K; 11:62525410-62525410

c.9007C>A; p.Q3003K; 11:62525410-62525410

c.9007C>A; p.Q3003K; 11:62525410-62525410

c.9007C>A; p.Q3003K; 11:62525410-62525410

c.9007C>A; p.Q3003K; 11:62525410-62525410

c.9007C>A; p.Q3003K; 11:62525410-62525410

c.9007C>A; p.Q3003K; 11:62525410-62525410

c.12273C>A; p.V4091V; 11:62522144-62522144

c.10879C>T; p.P3627S; 11:62523538-62523538

c.1302G>A; p.M434I; 11:62533115-62533115

c.9007C>A; p.Q3003K; 11:62525410-62525410

c.9007C>A; p.Q3003K; 11:62525410-62525410

c.9007C>A; p.Q3003K; 11:62525410-62525410

c.9007C>A; p.Q3003K; 11:62525410-62525410

c.12577delA; p.M4193fs*18; 11:62521840-62521840

c.8067G>A; p.K2689K; 11:62526350-62526350

c.9007C>A; p.Q3003K; 11:62525410-62525410

c.9007C>A; p.Q3003K; 11:62525410-62525410

c.9007C>A; p.Q3003K; 11:62525410-62525410

c.9007C>A; p.Q3003K; 11:62525410-62525410

c.9007C>A; p.Q3003K; 11:62525410-62525410

c.9007C>A; p.Q3003K; 11:62525410-62525410

c.9878T>C; p.I3293T; 11:62524539-62524539

c.13155C>A; p.I4385I; 11:62521262-62521262

c.6850C>T; p.P2284S; 11:62527567-62527567

c.611C>A; p.T204N; 11:62533806-62533806

c.16540C>T; p.P5514S; 11:62517877-62517877

c.9878T>C; p.I3293T; 11:62524539-62524539

c.8658G>A; p.Q2886Q; 11:62525759-62525759

c.17291C>T; p.P5764L; 11:62517126-62517126

c.11700T>G; p.G3900G; 11:62522717-62522717

c.2975C>T; p.P992L; 11:62531442-62531442

c.14676C>T; p.F4892F; 11:62519741-62519741

c.12414G>C; p.L4138L; 11:62522003-62522003

c.10272G>C; p.L3424F; 11:62524145-62524145

c.3038G>A; p.G1013E; 11:62531379-62531379

c.1658C>T; p.T553I; 11:62532759-62532759

c.11053A>G; p.M3685V; 11:62523364-62523364

c.4239C>T; p.V1413V; 11:62530178-62530178

c.14101G>T; p.D4701Y; 11:62520316-62520316

c.2658C>T; p.S886S; 11:62531759-62531759

c.8233G>T; p.G2745C; 11:62526184-62526184

c.8233G>T; p.G2745C; 11:62526184-62526184

c.6628G>C; p.E2210Q; 11:62527789-62527789

c.10989G>A; p.E3663E; 11:62523428-62523428

c.14488G>A; p.A4830T; 11:62519929-62519929

c.13759C>T; p.H4587Y; 11:62520658-62520658

c.11573G>A; p.G3858D; 11:62522844-62522844

c.7840G>A; p.D2614N; 11:62526577-62526577

c.14818G>A; p.G4940S; 11:62519599-62519599

c.9950A>G; p.K3317R; 11:62524467-62524467

c.4613A>G; p.D1538G; 11:62529804-62529804

c.5658C>T; p.G1886G; 11:62528759-62528759

c.3211G>A; p.D1071N; 11:62531206-62531206

c.17134A>G; p.I5712V; 11:62517283-62517283

c.6113A>C; p.D2038A; 11:62528304-62528304

c.15529G>T; p.G5177C; 11:62518888-62518888

c.15726C>T; p.G5242G; 11:62518691-62518691

c.4636G>A; p.V1546M; 11:62529781-62529781

c.16813G>T; p.A5605S; 11:62517604-62517604

c.2988G>A; p.L996L; 11:62531429-62531429

c.5757C>T; p.A1919A; 11:62528660-62528660

c.13451T>G; p.V4484G; 11:62520966-62520966

c.5033T>G; p.V1678G; 11:62529384-62529384

c.11576C>A; p.P3859H; 11:62522841-62522841

c.3199A>G; p.M1067V; 11:62531218-62531218

c.3199A>G; p.M1067V; 11:62531218-62531218

c.275G>A; p.R92H; 11:62535070-62535070

c.5090A>T; p.D1697V; 11:62529327-62529327

c.13144G>A; p.A4382T; 11:62521273-62521273

c.11576C>A; p.P3859H; 11:62522841-62522841

c.710A>T; p.Q237L; 11:62533707-62533707

c.16536delA; p.K5512fs*16; 11:62517881-62517881

c.5090A>T; p.D1697V; 11:62529327-62529327

c.4646A>G; p.D1549G; 11:62529771-62529771

c.7031C>A; p.P2344Q; 11:62527386-62527386

c.14915T>C; p.I4972T; 11:62519502-62519502

c.12676A>G; p.I4226V; 11:62521741-62521741

c.3786T>C; p.F1262F; 11:62530631-62530631

c.7461G>A; p.M2487I; 11:62526956-62526956

c.8511G>A; p.M2837I; 11:62525906-62525906

c.14905G>C; p.D4969H; 11:62519512-62519512

c.16575T>G; p.G5525G; 11:62517842-62517842

c.6903G>T; p.K2301N; 11:62527514-62527514

c.14878A>T; p.S4960C; 11:62519539-62519539

c.12700G>A; p.E4234K; 11:62521717-62521717

c.14515A>G; p.M4839V; 11:62519902-62519902

c.5562G>A; p.K1854K; 11:62528855-62528855

c.55G>T; p.G19C; 11:62536044-62536044

c.6793_6794GT>AG; p.V2265R; 11:62527623-62527624

c.66G>T; p.G22G; 11:62536033-62536033

c.10831A>G; p.S3611G; 11:62523586-62523586

c.9636G>A; p.M3212I; 11:62524781-62524781

c.15413C>T; p.A5138V; 11:62519004-62519004

c.16619A>G; p.D5540G; 11:62517798-62517798

c.3190_3191GC>TT; p.A1064F; 11:62531226-62531227

c.14848G>C; p.E4950Q; 11:62519569-62519569

c.5539G>C; p.E1847Q; 11:62528878-62528878

c.17304C>A; p.F5768L; 11:62517113-62517113

c.7941C>T; p.S2647S; 11:62526476-62526476

c.6340G>A; p.A2114T; 11:62528077-62528077

c.9511G>C; p.D3171H; 11:62524906-62524906

c.1113G>T; p.K371N; 11:62533304-62533304

c.7941C>T; p.S2647S; 11:62526476-62526476

c.14031C>A; p.P4677P; 11:62520386-62520386

c.4242A>G; p.S1414S; 11:62530175-62530175

c.9033G>T; p.V3011V; 11:62525384-62525384

c.8435A>G; p.E2812G; 11:62525982-62525982

c.733C>T; p.Q245*; 11:62533684-62533684

c.7692G>T; p.G2564G; 11:62526725-62526725

c.5828C>T; p.S1943L; 11:62528589-62528589

c.3025C>T; p.P1009S; 11:62531392-62531392

c.8123C>T; p.S2708F; 11:62526294-62526294

c.4050T>G; p.G1350G; 11:62530367-62530367

c.17029G>A; p.E5677K; 11:62517388-62517388

c.8937C>T; p.G2979G; 11:62525480-62525480

c.10691C>A; p.S3564Y; 11:62523726-62523726

c.437C>T; p.T146I; 11:62533980-62533980

c.355G>T; p.E119*; 11:62534062-62534062

c.13560C>T; p.S4520S; 11:62520857-62520857

c.14154C>T; p.A4718A; 11:62520263-62520263

c.13573G>C; p.D4525H; 11:62520844-62520844

c.2615A>G; p.D872G; 11:62531802-62531802

c.15085C>A; p.H5029N; 11:62519332-62519332

c.13915C>A; p.P4639T; 11:62520502-62520502

c.12325G>T; p.E4109*; 11:62522092-62522092

c.1986C>T; p.P662P; 11:62532431-62532431

c.12449C>T; p.S4150F; 11:62521968-62521968

c.7704G>T; p.K2568N; 11:62526713-62526713

c.10588A>T; p.K3530*; 11:62523829-62523829

c.5934G>A; p.K1978K; 11:62528483-62528483

c.14474T>G; p.I4825S; 11:62519943-62519943

c.12972C>T; p.F4324F; 11:62521445-62521445

c.12449C>T; p.S4150F; 11:62521968-62521968

c.12593T>C; p.M4198T; 11:62521824-62521824

c.1593C>T; p.G531G; 11:62532824-62532824

c.1884G>A; p.M628I; 11:62532533-62532533

c.12906C>T; p.A4302A; 11:62521511-62521511

c.2510A>G; p.D837G; 11:62531907-62531907

c.8592G>C; p.L2864L; 11:62525825-62525825

c.3736C>G; p.Q1246E; 11:62530681-62530681

c.5562G>T; p.K1854N; 11:62528855-62528855

c.12036C>A; p.G4012G; 11:62522381-62522381

c.1287G>A; p.L429L; 11:62533130-62533130

c.8361C>T; p.D2787D; 11:62526056-62526056

c.8104A>T; p.I2702F; 11:62526313-62526313

c.3169A>G; p.M1057V; 11:62531248-62531248

c.9354T>G; p.G3118G; 11:62525063-62525063

c.14422G>C; p.D4808H; 11:62519995-62519995

c.3898G>A; p.E1300K; 11:62530519-62530519

c.3123G>C; p.L1041L; 11:62531294-62531294

c.6703C>A; p.H2235N; 11:62527714-62527714

c.9859C>T; p.H3287Y; 11:62524558-62524558

c.12580C>T; p.P4194S; 11:62521837-62521837

c.14372C>T; p.P4791L; 11:62520045-62520045

c.17393C>T; p.T5798M; 11:62517024-62517024

c.2919G>T; p.G973G; 11:62531498-62531498

c.15893C>G; p.S5298C; 11:62518524-62518524

c.3236C>T; p.P1079L; 11:62531181-62531181

c.12917A>G; p.D4306G; 11:62521500-62521500

c.12917A>G; p.D4306G; 11:62521500-62521500

c.1610A>G; p.K537R; 11:62532807-62532807

c.1610A>G; p.K537R; 11:62532807-62532807

c.12321T>C; p.G4107G; 11:62522096-62522096

c.13906A>C; p.I4636L; 11:62520511-62520511

c.16930G>T; p.G5644W; 11:62517487-62517487

c.13298T>A; p.V4433D; 11:62521119-62521119

c.2395G>A; p.G799R; 11:62532022-62532022

c.3941C>T; p.P1314L; 11:62530476-62530476

c.3213T>C; p.D1071D; 11:62531204-62531204

c.5116C>A; p.P1706T; 11:62529301-62529301

c.14486A>G; p.D4829G; 11:62519931-62519931

c.4231G>A; p.V1411I; 11:62530186-62530186

c.2944G>A; p.V982I; 11:62531473-62531473

c.654A>C; p.T218T; 11:62533763-62533763

c.3666T>G; p.G1222G; 11:62530751-62530751

c.11608G>A; p.A3870T; 11:62522809-62522809

c.11628T>C; p.P3876P; 11:62522789-62522789

c.8934G>A; p.K2978K; 11:62525483-62525483

c.15148G>T; p.E5050*; 11:62519269-62519269

c.6376T>A; p.L2126M; 11:62528041-62528041

c.6721C>A; p.L2241M; 11:62527696-62527696

c.12835C>T; p.L4279F; 11:62521582-62521582

c.12654C>T; p.D4218D; 11:62521763-62521763

c.8502G>T; p.K2834N; 11:62525915-62525915

c.796G>C; p.D266H; 11:62533621-62533621

c.1777A>G; p.R593G; 11:62532640-62532640

c.2603T>C; p.V868A; 11:62531814-62531814

c.6721C>A; p.L2241M; 11:62527696-62527696

c.7033G>T; p.E2345*; 11:62527384-62527384

c.15733G>T; p.G5245C; 11:62518684-62518684

c.5994G>A; p.L1998L; 11:62528423-62528423

c.7290G>T; p.E2430D; 11:62527127-62527127

c.6301A>G; p.K2101E; 11:62528116-62528116

c.4979T>A; p.L1660*; 11:62529438-62529438

c.8773G>T; p.V2925F; 11:62525644-62525644

c.13932A>G; p.Q4644Q; 11:62520485-62520485

c.5390G>T; p.G1797V; 11:62529027-62529027

c.7289A>C; p.E2430A; 11:62527128-62527128

c.4214A>G; p.K1405R; 11:62530203-62530203

c.6485G>A; p.C2162Y; 11:62527932-62527932

c.4214A>G; p.K1405R; 11:62530203-62530203

c.10310G>C; p.G3437A; 11:62524107-62524107

c.10576T>C; p.L3526L; 11:62523841-62523841

c.16441C>T; p.P5481S; 11:62517976-62517976

c.6188C>G; p.A2063G; 11:62528229-62528229

c.10051C>T; p.R3351C; 11:62524366-62524366

c.8106C>G; p.I2702M; 11:62526311-62526311

c.3771G>T; p.M1257I; 11:62530646-62530646

c.11619C>G; p.I3873M; 11:62522798-62522798

c.16199G>A; p.S5400N; 11:62518218-62518218

c.15985C>T; p.L5329F; 11:62518432-62518432

c.6129C>G; p.D2043E; 11:62528288-62528288

c.3606A>G; p.L1202L; 11:62530811-62530811

c.13022C>T; p.P4341L; 11:62521395-62521395

c.537A>T; p.E179D; 11:62533880-62533880

c.3603delC; p.L1202fs*3; 11:62530814-62530814

c.3809A>G; p.E1270G; 11:62530608-62530608

c.13477G>T; p.V4493L; 11:62520940-62520940

c.13750C>T; p.P4584S; 11:62520667-62520667

c.13104C>G; p.L4368L; 11:62521313-62521313

c.7960G>A; p.E2654K; 11:62526457-62526457

c.2942A>G; p.D981G; 11:62531475-62531475

c.14301T>A; p.P4767P; 11:62520116-62520116

c.3943G>A; p.E1315K; 11:62530474-62530474

c.13215C>T; p.V4405V; 11:62521202-62521202

c.16246_16247CC>GT; p.P5416V; 11:62518170-62518171

c.8100G>T; p.M2700I; 11:62526317-62526317

c.3943G>A; p.E1315K; 11:62530474-62530474

c.13215C>T; p.V4405V; 11:62521202-62521202

c.15173C>T; p.P5058L; 11:62519244-62519244

c.15169G>T; p.A5057S; 11:62519248-62519248

c.14330A>T; p.H4777L; 11:62520087-62520087

c.11536G>A; p.D3846N; 11:62522881-62522881

c.1770A>T; p.T590T; 11:62532647-62532647

c.14623G>A; p.E4875K; 11:62519794-62519794

c.9830A>G; p.K3277R; 11:62524587-62524587

c.3623A>G; p.K1208R; 11:62530794-62530794

c.1901C>T; p.P634L; 11:62532516-62532516

c.15376T>G; p.L5126V; 11:62519041-62519041

c.6544C>T; p.P2182S; 11:62527873-62527873

c.368G>A; p.R123H; 11:62534049-62534049

c.13181T>C; p.L4394S; 11:62521236-62521236

c.9205G>A; p.G3069S; 11:62525212-62525212

c.6372A>G; p.L2124L; 11:62528045-62528045

c.7219G>C; p.D2407H; 11:62527198-62527198

c.4897G>A; p.E1633K; 11:62529520-62529520

c.11886C>T; p.D3962D; 11:62522531-62522531

c.1692C>T; p.T564T; 11:62532725-62532725

c.10358C>T; p.A3453V; 11:62524059-62524059

c.14662C>T; p.P4888S; 11:62519755-62519755

c.11886C>T; p.D3962D; 11:62522531-62522531

c.3308T>C; p.I1103T; 11:62531109-62531109

c.9121G>C; p.D3041H; 11:62525296-62525296

c.7711G>C; p.E2571Q; 11:62526706-62526706

c.16158C>A; p.S5386S; 11:62518259-62518259

c.1644A>T; p.L548L; 11:62532773-62532773

c.4612G>T; p.D1538Y; 11:62529805-62529805

c.5370G>C; p.L1790F; 11:62529047-62529047

c.901C>T; p.H301Y; 11:62533516-62533516

c.10536T>C; p.I3512I; 11:62523881-62523881

c.9615T>C; p.P3205P; 11:62524802-62524802

c.8311A>G; p.M2771V; 11:62526106-62526106

c.1644A>T; p.L548L; 11:62532773-62532773

c.4722A>G; p.I1574M; 11:62529695-62529695

c.12187G>A; p.V4063M; 11:62522230-62522230

c.9599C>T; p.A3200V; 11:62524818-62524818

c.4327G>T; p.E1443*; 11:62530090-62530090

c.7967C>T; p.P2656L; 11:62526450-62526450

c.1357G>T; p.V453L; 11:62533060-62533060

c.612C>T; p.T204T; 11:62533805-62533805

c.268G>T; p.G90W; 11:62535077-62535077

c.9321T>G; p.G3107G; 11:62525096-62525096

c.16168C>A; p.P5390T; 11:62518249-62518249

c.12667A>G; p.K4223E; 11:62521750-62521750

c.7967C>T; p.P2656L; 11:62526450-62526450

c.4585G>T; p.E1529*; 11:62529832-62529832

c.13652C>T; p.P4551L; 11:62520765-62520765

c.13652C>T; p.P4551L; 11:62520765-62520765

c.11352C>A; p.P3784P; 11:62523065-62523065

c.4898A>G; p.E1633G; 11:62529519-62529519

c.2830C>T; p.P944S; 11:62531587-62531587

c.6930delC; p.K2311fs*11; 11:62527487-62527487

c.8433C>G; p.I2811M; 11:62525984-62525984

c.5832G>T; p.V1944V; 11:62528585-62528585

c.3492C>T; p.I1164I; 11:62530925-62530925

c.2325G>A; p.K775K; 11:62532092-62532092

c.474G>A; p.T158T; 11:62533943-62533943

c.11941G>C; p.D3981H; 11:62522476-62522476

c.8433C>A; p.I2811I; 11:62525984-62525984

c.14946T>C; p.F4982F; 11:62519471-62519471

c.3817G>A; p.E1273K; 11:62530600-62530600

c.12541G>A; p.G4181S; 11:62521876-62521876

c.9743delT; p.L3248fs*1; 11:62524674-62524674

c.1400G>T; p.G467V; 11:62533017-62533017

c.11848C>T; p.P3950S; 11:62522569-62522569

c.13219C>G; p.L4407V; 11:62521198-62521198

c.11984A>G; p.N3995S; 11:62522433-62522433

c.3973A>G; p.M1325V; 11:62530444-62530444

c.2493C>T; p.N831N; 11:62531924-62531924

c.13525A>C; p.M4509L; 11:62520892-62520892

c.15196G>T; p.G5066W; 11:62519221-62519221

c.2033delG; p.G678fs*13; 11:62532384-62532384

c.10642A>G; p.I3548V; 11:62523775-62523775

c.13269C>T; p.G4423G; 11:62521148-62521148

c.1954C>T; p.L652L; 11:62532463-62532463

c.11114T>G; p.V3705G; 11:62523303-62523303

c.5642A>G; p.E1881G; 11:62528775-62528775

c.4882G>C; p.D1628H; 11:62529535-62529535

c.3697G>T; p.G1233*; 11:62530720-62530720

c.7962G>T; p.E2654D; 11:62526455-62526455

c.122C>T; p.S41F; 11:62535977-62535977

c.3118G>T; p.D1040Y; 11:62531299-62531299

c.11467G>T; p.D3823Y; 11:62522950-62522950

c.1350G>T; p.G450G; 11:62533067-62533067

c.5439G>A; p.P1813P; 11:62528978-62528978

c.3416T>A; p.L1139H; 11:62531001-62531001

c.5439G>A; p.P1813P; 11:62528978-62528978

c.15374C>G; p.S5125C; 11:62519043-62519043

c.3463G>A; p.V1155I; 11:62530954-62530954

c.17210C>A; p.S5737Y; 11:62517207-62517207

c.10030G>A; p.E3344K; 11:62524387-62524387

c.13067C>T; p.A4356V; 11:62521350-62521350

c.16764G>A; p.L5588L; 11:62517653-62517653

c.15393C>T; p.V5131V; 11:62519024-62519024

c.6939C>T; p.S2313S; 11:62527478-62527478

c.2247G>A; p.M749I; 11:62532170-62532170

c.7799C>T; p.S2600F; 11:62526618-62526618

c.3888T>A; p.D1296E; 11:62530529-62530529

c.13436T>G; p.V4479G; 11:62520981-62520981

c.6118C>T; p.H2040Y; 11:62528299-62528299

c.5565C>T; p.I1855I; 11:62528852-62528852

c.3526G>T; p.G1176W; 11:62530891-62530891

c.17454G>C; p.G5818G; 11:62516963-62516963

c.10247C>T; p.S3416F; 11:62524170-62524170

c.17470A>G; p.T5824A; 11:62516947-62516947

c.8714C>A; p.P2905H; 11:62525703-62525703

c.14998G>C; p.V5000L; 11:62519419-62519419

c.2004C>T; p.A668A; 11:62532413-62532413

c.8148G>A; p.L2716L; 11:62526269-62526269

c.92G>A; p.G31D; 11:62536007-62536007

c.14061A>G; p.K4687K; 11:62520356-62520356

c.92G>A; p.G31D; 11:62536007-62536007

c.14581C>T; p.P4861S; 11:62519836-62519836

c.7053C>A; p.P2351P; 11:62527364-62527364

c.10439C>T; p.P3480L; 11:62523978-62523978

c.14020G>T; p.V4674L; 11:62520397-62520397

c.8125A>G; p.M2709V; 11:62526292-62526292

c.8148G>A; p.L2716L; 11:62526269-62526269

c.6991G>C; p.D2331H; 11:62527426-62527426

c.2580C>T; p.D860D; 11:62531837-62531837

c.10189A>G; p.K3397E; 11:62524228-62524228

c.12438C>T; p.D4146D; 11:62521979-62521979

c.17136C>T; p.I5712I; 11:62517281-62517281

c.16779C>A; p.S5593S; 11:62517638-62517638

c.8188C>T; p.P2730S; 11:62526229-62526229

c.8901C>A; p.D2967E; 11:62525516-62525516

c.2048C>A; p.P683H; 11:62532369-62532369

c.16128C>T; p.V5376V; 11:62518289-62518289

c.12152T>C; p.V4051A; 11:62522265-62522265

c.13973C>T; p.P4658L; 11:62520444-62520444

c.213C>T; p.T71T; 11:62535132-62535132

c.10063C>T; p.P3355S; 11:62524354-62524354

c.8168G>T; p.G2723V; 11:62526249-62526249

c.12372C>T; p.L4124L; 11:62522045-62522045

c.6505G>A; p.G2169R; 11:62527912-62527912

c.9562G>A; p.V3188I; 11:62524855-62524855

c.15613G>A; p.G5205R; 11:62518804-62518804

c.9835C>T; p.P3279S; 11:62524582-62524582

c.5567C>G; p.S1856C; 11:62528850-62528850

c.11433G>A; p.K3811K; 11:62522984-62522984

c.17250G>C; p.L5750L; 11:62517167-62517167

c.9459A>T; p.I3153I; 11:62524958-62524958

c.4018G>C; p.D1340H; 11:62530399-62530399

c.10129G>C; p.D3377H; 11:62524288-62524288

c.16315G>T; p.D5439Y; 11:62518102-62518102

c.1005A>C; p.E335D; 11:62533412-62533412

c.16333C>T; p.P5445S; 11:62518084-62518084

c.16333C>T; p.P5445S; 11:62518084-62518084

c.16333C>T; p.P5445S; 11:62518084-62518084

c.16333C>T; p.P5445S; 11:62518084-62518084

c.16333C>T; p.P5445S; 11:62518084-62518084

c.3153A>G; p.K1051K; 11:62531264-62531264

c.16333C>T; p.P5445S; 11:62518084-62518084

c.11282G>C; p.G3761A; 11:62523135-62523135

c.16333C>T; p.P5445S; 11:62518084-62518084

c.16333C>T; p.P5445S; 11:62518084-62518084

c.4852C>T; p.P1618S; 11:62529565-62529565

c.1328G>A; p.G443D; 11:62533089-62533089

c.16333C>T; p.P5445S; 11:62518084-62518084

c.16333C>T; p.P5445S; 11:62518084-62518084

c.6354C>T; p.S2118S; 11:62528063-62528063

c.16333C>T; p.P5445S; 11:62518084-62518084

c.16333C>T; p.P5445S; 11:62518084-62518084

c.16848C>T; p.G5616G; 11:62517569-62517569

c.5998G>T; p.G2000C; 11:62528419-62528419

c.11164G>A; p.E3722K; 11:62523253-62523253

c.17581C>T; p.R5861*; 11:62516836-62516836

c.8682G>T; p.M2894I; 11:62525735-62525735

c.5059G>A; p.V1687I; 11:62529358-62529358

c.7182C>A; p.H2394Q; 11:62527235-62527235

c.3134G>A; p.G1045E; 11:62531283-62531283

c.11616G>T; p.K3872N; 11:62522801-62522801

c.9585T>C; p.I3195I; 11:62524832-62524832

c.8015C>T; p.P2672L; 11:62526402-62526402

c.4566C>T; p.G1522G; 11:62529851-62529851

c.503A>G; p.E168G; 11:62533914-62533914

c.2034A>G; p.G678G; 11:62532383-62532383

c.3261C>A; p.I1087I; 11:62531156-62531156

c.11817G>A; p.K3939K; 11:62522600-62522600

c.8579T>G; p.V2860G; 11:62525838-62525838

c.10221C>T; p.F3407F; 11:62524196-62524196

c.8486A>T; p.H2829L; 11:62525931-62525931

c.5386A>T; p.K1796*; 11:62529031-62529031

c.2491A>G; p.N831D; 11:62531926-62531926

c.3268C>T; p.P1090S; 11:62531149-62531149

c.17135T>C; p.I5712T; 11:62517282-62517282

c.13379C>G; p.S4460C; 11:62521038-62521038

c.10894G>A; p.D3632N; 11:62523523-62523523

c.14550C>T; p.S4850S; 11:62519867-62519867

c.15153T>C; p.I5051I; 11:62519264-62519264

c.13809A>C; p.K4603N; 11:62520608-62520608

c.13622T>C; p.V4541A; 11:62520795-62520795

c.5457T>C; p.G1819G; 11:62528960-62528960

c.2360T>G; p.V787G; 11:62532057-62532057

c.6075C>T; p.I2025I; 11:62528342-62528342

c.15429C>A; p.V5143V; 11:62518988-62518988

c.3912A>G; p.G1304G; 11:62530505-62530505

c.6367G>A; p.D2123N; 11:62528050-62528050

c.11557G>A; p.E3853K; 11:62522860-62522860

c.9014A>G; p.D3005G; 11:62525403-62525403

c.15584C>T; p.S5195F; 11:62518833-62518833

c.14957G>T; p.S4986I; 11:62519460-62519460

c.6367G>A; p.D2123N; 11:62528050-62528050

c.2679G>A; p.E893E; 11:62531738-62531738

c.12655G>A; p.V4219I; 11:62521762-62521762

c.15723C>A; p.I5241I; 11:62518694-62518694

c.8691G>A; p.M2897I; 11:62525726-62525726

c.4704G>T; p.K1568N; 11:62529713-62529713

c.6773G>C; p.G2258A; 11:62527644-62527644

c.9541G>A; p.V3181I; 11:62524876-62524876

c.11430C>T; p.P3810P; 11:62522987-62522987

c.9541G>A; p.V3181I; 11:62524876-62524876

c.9541G>A; p.V3181I; 11:62524876-62524876

c.17335C>T; p.R5779C; 11:62517082-62517082

c.9339G>T; p.L3113L; 11:62525078-62525078

c.16829C>G; p.T5610R; 11:62517588-62517588

c.9581A>G; p.N3194S; 11:62524836-62524836

c.7348G>T; p.A2450S; 11:62527069-62527069

c.13749G>T; p.M4583I; 11:62520668-62520668

c.13412C>A; p.P4471H; 11:62521005-62521005

c.14517G>A; p.M4839I; 11:62519900-62519900

c.15216A>G; p.K5072K; 11:62519201-62519201

c.14098C>G; p.P4700A; 11:62520319-62520319

c.1047C>T; p.I349I; 11:62533370-62533370

c.1047C>T; p.I349I; 11:62533370-62533370

c.7818T>G; p.G2606G; 11:62526599-62526599

c.15216A>G; p.K5072K; 11:62519201-62519201

c.2293G>C; p.E765Q; 11:62532124-62532124

c.6977T>C; p.I2326T; 11:62527440-62527440

c.330T>C; p.S110S; 11:62535015-62535015

c.16272C>A; p.A5424A; 11:62518145-62518145

c.11770C>T; p.R3924*; 11:62522647-62522647

c.4986G>A; p.L1662L; 11:62529431-62529431

c.3672G>A; p.M1224I; 11:62530745-62530745

c.8009C>T; p.S2670L; 11:62526408-62526408

c.6168C>T; p.F2056F; 11:62528249-62528249

c.13497A>G; p.E4499E; 11:62520920-62520920

c.9170_9176delAGGTGGA; p.K3057fs*7; 11:62525241-62525247

c.13362C>T; p.I4454I; 11:62521055-62521055

c.11770C>T; p.R3924*; 11:62522647-62522647

c.14219A>C; p.D4740A; 11:62520198-62520198

c.9227G>T; p.G3076V; 11:62525190-62525190

c.15826C>G; p.P5276A; 11:62518591-62518591

c.2133G>A; p.V711V; 11:62532284-62532284

c.9678C>T; p.L3226L; 11:62524739-62524739

c.8105T>C; p.I2702T; 11:62526312-62526312

c.320C>T; p.S107F; 11:62535025-62535025

c.15826C>G; p.P5276A; 11:62518591-62518591

c.2372A>G; p.D791G; 11:62532045-62532045

c.3550A>G; p.K1184E; 11:62530867-62530867

c.8105T>C; p.I2702T; 11:62526312-62526312

c.11741T>G; p.V3914G; 11:62522676-62522676

c.10910A>G; p.N3637S; 11:62523507-62523507

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c.8105T>C; p.I2702T; 11:62526312-62526312

c.6524C>T; p.P2175L; 11:62527893-62527893

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c.9983A>T; p.D3328V; 11:62524434-62524434

c.1901C>A; p.P634H; 11:62532516-62532516

c.11815A>T; p.K3939*; 11:62522602-62522602

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c.4724A>C; p.Q1575P; 11:62529693-62529693

c.13141A>T; p.K4381*; 11:62521276-62521276

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c.16382T>C; p.V5461A; 11:62518035-62518035

c.7722C>A; p.I2574I; 11:62526695-62526695

c.15765C>T; p.V5255V; 11:62518652-62518652

c.14452G>A; p.V4818I; 11:62519965-62519965

c.11318A>G; p.D3773G; 11:62523099-62523099

c.17446delA; p.K5816fs*5; 11:62516971-62516971

c.6421A>G; p.K2141E; 11:62527996-62527996

c.5119G>T; p.D1707Y; 11:62529298-62529298

c.3588C>T; p.S1196S; 11:62530829-62530829

c.5380A>T; p.K1794*; 11:62529037-62529037

c.6952G>A; p.D2318N; 11:62527465-62527465

c.934C>T; p.P312S; 11:62533483-62533483

c.14669T>A; p.L4890Q; 11:62519748-62519748

c.9196A>G; p.N3066D; 11:62525221-62525221

c.16702G>A; p.G5568R; 11:62517715-62517715

c.682G>A; p.A228T; 11:62533735-62533735

c.820C>G; p.Q274E; 11:62533597-62533597

c.16315G>A; p.D5439N; 11:62518102-62518102

c.3557C>T; p.P1186L; 11:62530860-62530860

c.15574C>T; p.P5192S; 11:62518843-62518843

c.6059T>A; p.V2020E; 11:62528358-62528358

c.820C>G; p.Q274E; 11:62533597-62533597

c.11163C>T; p.I3721I; 11:62523254-62523254

c.4078A>G; p.K1360E; 11:62530339-62530339

c.16131T>C; p.S5377S; 11:62518286-62518286

c.13976A>T; p.K4659M; 11:62520441-62520441

c.6427G>A; p.E2143K; 11:62527990-62527990

c.8260G>A; p.D2754N; 11:62526157-62526157

c.7133A>T; p.D2378V; 11:62527284-62527284

c.6626T>G; p.V2209G; 11:62527791-62527791

c.13976A>T; p.K4659M; 11:62520441-62520441

c.9990G>T; p.K3330N; 11:62524427-62524427

c.7709C>T; p.P2570L; 11:62526708-62526708

c.2633C>T; p.P878L; 11:62531784-62531784

c.2549C>T; p.P850L; 11:62531868-62531868

c.5726A>C; p.K1909T; 11:62528691-62528691

c.13724A>C; p.K4575T; 11:62520693-62520693

c.10079C>T; p.S3360L; 11:62524338-62524338

c.4088A>G; p.K1363R; 11:62530329-62530329

c.7403A>G; p.K2468R; 11:62527014-62527014

c.5726A>C; p.K1909T; 11:62528691-62528691

c.4416A>G; p.T1472T; 11:62530001-62530001

c.14358C>G; p.P4786P; 11:62520059-62520059

c.9641T>G; p.I3214S; 11:62524776-62524776

c.6313C>T; p.L2105F; 11:62528104-62528104

c.9911G>A; p.G3304D; 11:62524506-62524506

c.1170G>A; p.K390K; 11:62533247-62533247

c.4350G>T; p.K1450N; 11:62530067-62530067

c.1459A>G; p.K487E; 11:62532958-62532958

c.6313C>T; p.L2105F; 11:62528104-62528104

c.6543C>G; p.T2181T; 11:62527874-62527874

c.9092G>C; p.S3031T; 11:62525325-62525325

c.7582C>T; p.P2528S; 11:62526835-62526835

c.3493G>A; p.E1165K; 11:62530924-62530924

c.15769G>A; p.A5257T; 11:62518648-62518648

c.2190A>C; p.K730N; 11:62532227-62532227

c.7701A>C; p.L2567F; 11:62526716-62526716

c.11119A>C; p.I3707L; 11:62523298-62523298

c.7304A>C; p.K2435T; 11:62527113-62527113

c.476C>T; p.A159V; 11:62533941-62533941

c.3578C>T; p.P1193L; 11:62530839-62530839

c.3493G>A; p.E1165K; 11:62530924-62530924

c.3493G>A; p.E1165K; 11:62530924-62530924

c.8353G>C; p.D2785H; 11:62526064-62526064

c.17588C>T; p.S5863F; 11:62516829-62516829

c.1170G>C; p.K390N; 11:62533247-62533247

c.8826A>G; p.P2942P; 11:62525591-62525591

c.13083C>T; p.I4361I; 11:62521334-62521334

c.5157G>T; p.K1719N; 11:62529260-62529260

c.727A>T; p.K243*; 11:62533690-62533690

c.15348A>G; p.E5116E; 11:62519069-62519069

c.11684T>C; p.L3895P; 11:62522733-62522733

c.13529C>T; p.P4510L; 11:62520888-62520888

c.3610T>A; p.L1204M; 11:62530807-62530807

c.2037A>G; p.K679K; 11:62532380-62532380

c.8826A>G; p.P2942P; 11:62525591-62525591

c.17345C>T; p.S5782L; 11:62517072-62517072

c.4670C>G; p.A1557G; 11:62529747-62529747

c.16312G>T; p.V5438L; 11:62518105-62518105

c.14563G>T; p.D4855Y; 11:62519854-62519854

c.16576G>A; p.G5526S; 11:62517841-62517841

c.17281G>A; p.A5761T; 11:62517136-62517136

c.10446C>G; p.F3482L; 11:62523971-62523971

c.17281G>A; p.A5761T; 11:62517136-62517136

c.8022_8023GG>AA; p.D2675N; 11:62526394-62526395

c.1827A>C; p.K609N; 11:62532590-62532590

c.16698C>T; p.I5566I; 11:62517719-62517719

c.12085G>T; p.D4029Y; 11:62522332-62522332

c.12750G>T; p.M4250I; 11:62521667-62521667

c.2022G>A; p.E674E; 11:62532395-62532395

c.746C>T; p.P249L; 11:62533671-62533671

c.10873A>G; p.T3625A; 11:62523544-62523544

c.8554G>T; p.D2852Y; 11:62525863-62525863

c.2792G>A; p.G931D; 11:62531625-62531625

c.4201G>A; p.E1401K; 11:62530216-62530216

c.7666G>C; p.E2556Q; 11:62526751-62526751

c.1893G>A; p.M631I; 11:62532524-62532524

c.6175C>T; p.P2059S; 11:62528242-62528242

c.15962G>A; p.S5321N; 11:62518455-62518455

c.79C>T; p.Q27*; 11:62536020-62536020

c.8256A>T; p.A2752A; 11:62526161-62526161

c.10291G>A; p.G3431R; 11:62524126-62524126

c.6764G>T; p.G2255V; 11:62527653-62527653

c.15820G>A; p.E5274K; 11:62518597-62518597

c.13827C>T; p.G4609G; 11:62520590-62520590

c.15962G>A; p.S5321N; 11:62518455-62518455

c.16_17insGAG; p.T6>RA; 11:62536082-62536083

c.13101_13102AC>TT; p.K4367_L4368>NF; 11:62521315-62521316

c.13337A>C; p.K4446T; 11:62521080-62521080

c.606G>C; p.G202G; 11:62533811-62533811

c.15184G>A; p.V5062I; 11:62519233-62519233

c.2185C>T; p.P729S; 11:62532232-62532232

c.8632A>T; p.I2878F; 11:62525785-62525785

c.16_17insGAG; p.T6>RA; 11:62536082-62536083

c.7_8insAGG; p.E5_T6insE; 11:62536091-62536092

c.2609G>T; p.G870V; 11:62531808-62531808

c.7_8insAGG; p.E5_T6insE; 11:62536091-62536092

c.7_8insAGG; p.E5_T6insE; 11:62536091-62536092

c.17647C>T; p.L5883L; 11:62516770-62516770

c.8184C>T; p.S2728S; 11:62526233-62526233

c.7_8insAGG; p.E5_T6insE; 11:62536091-62536092