PCGP germline mutation   [Top]

NF1_W571*; chr17; 29548939

NF1_R2214_E43splice; chr17; 29664899

PCGP somatic mutation   [Top]

NF1_T653fs; chr17; 29552226

NF1_N1721fs; chr17; 29653227

NF1_R461fs; chr17; 29533379

NF1_R461*; chr17; 29533378

NF1_R1513*; chr17; 29588751

NF1_A776_E19splice; chr17; 29554311

NF1_E318fs; chr17; 29527503

NF1_R1513*; chr17; 29588751

NF1_R1306*; chr17; 29562981

NF1_Q1017_M1022fs; chr17; 29557336

NF1_L1095fs; chr17; 29559176

NF1_L1095fs; chr17; 29559176

NF1_L828fs; chr17; 29556116

NF1_R1513*; chr17; 29588751

NF1_R1513*; chr17; 29588751

NF1_R815fs; chr17; 29556076

NF1_S745fs; chr17; 29553685

NF1_R1513*; chr17; 29588751

NF1_R1276*; chr17; 29562746

NF1_N1840fs; chr17; 29654829

NF1_P2456>RP; chr17; 29677309

NF1_Y2455*; chr17; 29677307

NF1_E470*; chr17; 29541484

NF1_T2600fs; chr17; 29684100

NF1_T2263_Y2264fs; chr17; 29665754

NF1_R1830R; chr17; 29654738

NF1_R1830R; chr17; 29654738

NF1_L1855I; chr17; 29657330

NF1_C1939_N1942fs; chr17; 29661921

NF1_W784C; chr17; 29554567

NF1_Q112_P115fs; chr17; 29490251

NF1_Y628fs; chr17; 29552150

COSMIC somatic mutation   [Top]

c.7781G>C; p.R2594P;

c.7781G>C; p.R2594P;

c.1381_1382insTT; p.R461fs*13;

c.1448A>G; p.D483G;

c.1700T>G; p.V567G;

c.1400C>T; p.T467I;

c.1658A>G; p.H553R; 17:26573010-26573010

c.5483G>A; p.R1828Q;

c.4330A>G; p.K1444E; 17:26609644-26609644

c.4330A>C; p.K1444Q; 17:26609644-26609644

c.4330A>G; p.K1444E; 17:26609644-26609644

c.543_546delGTAT; p.Y182fs*8; 17:26521098-26521101

c.3721C>T; p.R1241*; 17:26586767-26586767

c.4021C>T; p.Q1341*; 17:26600174-26600174

c.4084C>T; p.R1362*; 17:26600237-26600237

c.5089_5095delCTGACTG; p.L1697fs*11; 17:26677217-26677223

c.3189T>A; p.C1063*; 17:26582061-26582061

c.4086_4092delAAGTGTG; p.S1363fs*13; 17:26600239-26600245

c.396_403delTGAACTTC; p.L134fs*19; 17:26514437-26514444

c.3774G>A; p.W1258*; 17:26586820-26586820

c.655-1G>T; p.?; 17:26532853-26532853

c.3757_3764delCTCTACCA; p.L1253fs*8; 17:26586803-26586810

c.1105C>T; p.Q369*; 17:26552223-26552223

c.1153delC; p.R385fs*2; 17:26552271-26552271

c.246_247delTC; p.Q83fs*23; 17:26510195-26510196

c.7458G>A; p.?; 17:26703400-26703401

c.3330delT; p.F1110fs*2; 17:26583859-26583859

c.7501delG; p.E2501fs*22; 17:26703444-26703444

c.2050C>T; p.Q684*; 17:26577627-26577627

c.3871_3974del104; p.?;

c.4792delA; p.T1598fs*26; 17:26616440-26616440

c.1663_1666delTTAG; p.L555fs*12; 17:26573015-26573018

c.4760T>A; p.L1587*; 17:26616408-26616408

c.2851-2A>G; p.?; 17:26580977-26580977

c.1007_1008GG>AA; p.W336*; 17:26551684-26551685

c.2409+1G>A; p.?; 17:26578751-26578751

Intronic; p.?; 17:26578332-26578356

c.603_621del19; p.F201fs*4; 17:26532582-26532600

c.1185+1G>A; p.?; 17:26552304-26552304

c.359_375del17; p.F120fs*1; 17:26514400-26514416

c.4600C>T; p.R1534*; 17:26612877-26612877

c.1641+1G>A; p.?; 17:26570263-26570263

c.1528_1546del19; p.?; 17:26570135-26570167

c.3049C>T; p.Q1017*; 17:26581462-26581462

c.3916C>T; p.R1306*; 17:26587107-26587107

c.5268+1G>A; p.?; 17:26677397-26677397

c.5831_5834delTTTG; p.C1945fs*4; 17:26686000-26686003

c.1381C>T; p.R461*; 17:26557504-26557504

c.7300_7316del17; p.Q2434fs*8; 17:26700374-26700390

c.3303_3314del12; p.?; 17:26583322-26583333

c.4812_4813insT; p.I1605fs*17; 17:26616460-26616461

c.4818delT; p.Y1607fs*17; 17:26616466-26616466

c.2135A>G; p.H712R; 17:26577712-26577712

c.2446C>T; p.R816*; 17:26580205-26580205

c.2928_2940del13; p.E977fs*3; 17:26581056-26581068

c.2266C>T; p.Q756*; 17:26578376-26578376

c.1062+?A>G; p.?;

c.910C>T; p.R304*; 17:26551587-26551587

c.7348C>T; p.R2450*; 17:26701353-26701353

c.1888delG; p.V630fs*1; 17:26576281-26576281

c.2033delC; p.P678fs*10; 17:26577610-26577610

c.4437_4438delCC; p.L1480fs*1; 17:26611519-26611520

c.6450A>C; p.R2150S; 17:26688534-26688534

c.2088delG; p.W696fs*1; 17:26577665-26577665

c.2341_2358del18; p.H781_Q786del; 17:26578682-26578699

c.4082_4083insT; p.R1362fs*18; 17:26600235-26600236

c.1541_1542delAG; p.Q514fs*43; 17:26570162-26570163

c.1556A>C; p.Q519P; 17:26570177-26570177

c.2246C>G; p.S749*; 17:26577823-26577823

c.655-8delATTTAT; p.?; 17:26532846-26532851

c.6355_6385del31; p.R2119fs*21; 17:26687986-26688016

c.1260+1G>A; p.?; 17:26552630-26552630

c.4577+1G>C; p.?; 17:26611660-26611660

c.7870-2A>T; p.?; 17:26708411-26708411

c.2815delA; p.N939fs*15; 17:26580574-26580574

c.5837delT; p.L1946fs*4; 17:26686006-26686006

c.1205C>T; p.S402L;

c.648_649ins73; p.E217fs*8; 17:26532627-26532628

c.655-1G>A; p.?; 17:26532853-26532853

c.748delT; p.F250fs*31; 17:26533669-26533669

c.2843delA; p.G949fs*5; 17:26580602-26580602

c.2534_2557del24; p.C845_Q853>*; 17:26580293-26580316

c.3047_3048delGT; p.C1016fs*4; 17:26581460-26581461

c.4600C>T; p.R1534*; 17:26612877-26612877

c.4806delG; p.N1603fs*21; 17:26616454-26616454

c.7783_7784delAA; p.K2595fs*5; 17:26708148-26708149

c.7172T>C; p.V2391A;

c.4643_4653del11; p.P1548fs*12; 17:26612920-26612930

c.5851delC; p.P1951fs*6; 17:26686020-26686020

c.1594delC; p.L532fs*24; 17:26570215-26570215

c.4332G>C; p.K1444N;

c.4332G>C; p.K1444N;

c.288+1G>T; p.?;

c.8428A>G; p.S2810G;

c.3667A>G; p.I1223V;

c.?; p.D1302Y;

c.(3114-50)delTG; p.?; 17:26581936-26581937

c.480-57C>T; p.?; 17:26520978-26520978

c.288+24G>A; p.?; 17:26510261-26510261

c.1392+52delTT; p.?; 17:26557567-26557568

c.1392+53delT; p.?; 17:26557568-26557568

c.61-4delT; p.?; 17:26507123-26507123

c.2252-31A>G; p.?; 17:26578331-26578331

c.2252-31A>T; p.?; 17:26578331-26578331

c.271G>A; p.E91K; 17:26510220-26510220

c.1178_1179delAC; p.H393fs*2; 17:26552296-26552297

c.910C>T; p.R304*; 17:26551587-26551587

c.532_558del27; p.E178_D186del; 17:26521087-26521113

c.1_8520del8520; p.0?; 17:26446455-26725300

c.1528_1641del114; p.N510_E547del; 17:26570149-26570262

c.1_8520del8520; p.0?; 17:26446455-26725300

c.1_8520del8520; p.0?; 17:26446455-26725300

c.1246C>T; p.R416*; 17:26552615-26552615

c.4769T>G; p.L1590*; 17:26616417-26616417

c.4564_4565delCT; p.L1522fs*7; 17:26611646-26611647

c.1_8520del8520; p.0?; 17:26446455-26725300

c.4082_4083insT; p.R1362fs*18; 17:26600235-26600236

c.4578-2A>G; p.?; 17:26612853-26612853

c.6006G>A; p.Q2002Q;

c.3298T>G; p.S1100A;

c.4638G>C; p.L1546L;

c.4084C>T; p.R1362*; 17:26600237-26600237

c.(731-5_741)del9; p.?;

c.1831_1831C>TT; p.L611fs*3; 17:26574697-26574697

c.3727_3728delCT; p.L1243fs*5; 17:26586773-26586774

c.2446C>T; p.R816*; 17:26580205-26580205

c.7190-44_7237del92; p.?; 17:26700220-26700311

c.4203_4204insT; p.I1402fs*22; 17:26609517-26609518

c.6855C>G; p.Y2285*; 17:26689883-26689883

c.6855C>A; p.Y2285*; 17:26689883-26689883

c.6280delC; p.D2095fs*16; 17:26687911-26687911

c.1541_1542delAG; p.Q514fs*43; 17:26570162-26570163

c.62T>G; p.L21R; 17:26507128-26507128

c.5270T>A; p.V1757D; 17:26678644-26678644

c.3826C>T; p.R1276*; 17:26586872-26586872

c.2677_2689del13; p.K893fs*5; 17:26580436-26580448

c.539T>A; p.L180*; 17:26521094-26521094

c.5902C>T; p.R1968*; 17:26686071-26686071

c.403delC; p.R135fs*30; 17:26514444-26514444

c.5608_5609CG>AGAGTTTACG; p.S1871fs*13; 17:26678982-26678983

c.3113+1G>C; p.?; 17:26581527-26581527

c.7790C>A; p.S2597*; 17:26708155-26708155

c.204+1G>A; p.?; 17:26507271-26507271

c.7663_7684del22; p.K2555fs*8; 17:26707651-26707672

c.1748A>G; p.K583R; 17:26574614-26574614

c.2027delC; p.P678fs*10; 17:26577604-26577604

c.821T>G; p.L274R; 17:26533742-26533742

c.6642+1G>C; p.?; 17:26688727-26688727

c.4084C>T; p.R1362*; 17:26600237-26600237

c.205-2A>G; p.?; 17:26510152-26510152

c.482T>G; p.L161*; 17:26521037-26521037

c.495_498delTGTT; p.C167fs*10; 17:26521050-26521053

c.5305C>T; p.R1769*; 17:26678679-26678679

c.3826C>T; p.R1276*; 17:26586872-26586872

c.1660C>G; p.Q554E; 17:26573012-26573012

c.7762C>T; p.Q2588*; 17:26708127-26708127

c.7765C>T; p.Q2589*; 17:26708130-26708130

c.67A>T; p.I23L; 17:26507133-26507133

c.586G>T; p.E196*; 17:26521141-26521141

c.4750_4754delTTCAA; p.F1584fs*36; 17:26616398-26616402

c.4754_4755insG; p.A1586fs*36; 17:26616402-26616403

c.4084C>T; p.R1362*; 17:26600237-26600237

c.3449C>T; p.S1150L; 17:26583978-26583978

c.3709-2A>G; p.?; 17:26586753-26586753

c.6511A>T; p.K2171*; 17:26688595-26688595

c.1641+2T>G; p.?; 17:26570264-26570264

c.7987_7987delT; p.S2663fs*16; 17:26709640-26709640

c.2410-3T>G; p.?; 17:26580166-26580166

c.5443C>T; p.Q1815*; 17:26678817-26678817

c.2041C>T; p.R681*; 17:26577618-26577618

c.1724_1727delCACA; p.S575fs*1; 17:26574590-26574593

c.6148_6148delG; p.V2050fs*8; 17:26687779-26687779

c.2088G>A; p.W696*; 17:26577665-26577665

c.889_889delA; p.K297fs*20; 17:26551566-26551566

c.2451_2452insG; p.S818fs*13; 17:26580210-26580211

c.1884_1885insA; p.G629fs*5; 17:26576277-26576278

c.5951A>C; p.N1984T; 17:26686120-26686120

c.7191_7191delG; p.Y2398fs*20; 17:26700265-26700265

c.3806_3807insC; p.S1270fs*14; 17:26586852-26586853

c.6541A>G; p.S2181G; 17:26688625-26688625

c.6922_6922delG; p.D2308fs*11; 17:26691649-26691649

c.3745_3764del20; p.S1249fs*8; 17:26586791-26586810

c.731_732delAA; p.E244fs*7; 17:26533652-26533653

c.2987_2988insAC; p.R997fs*16; 17:26581115-26581116

c.480_480delG; p.R160fs*5; 17:26521035-26521035

c.7190-3T>G; p.?; 17:26700261-26700261

c.3306_3307insA; p.F1103fs*3; 17:26583325-26583326

c.6427_6540del114; p.E2143_S2180del;

c.(1180_1182)insGG; p.?fs;

c.6852_6855delTTAC; p.Y2285fs*5; 17:26689880-26689883

c.(5134_5136)ins7; p.?fs;

c.6188_6189insAGGCTTT; p.S2064fs*16; 17:26687819-26687820

c.6473T>G; p.L2158*; 17:26688557-26688557

c.4489_4493delTCCTT; p.S1497fs*3; 17:26611571-26611575

c.1658A>G; p.H553R; 17:26573010-26573010

c.3871-1G>T; p.?; 17:26587061-26587061

c.586+3_586+85del83; p.?; 17:26521144-26521226

c.1318C>T; p.R440*; 17:26557441-26557441

c.288+1G>C; p.?; 17:26510238-26510238

c.5311A>T; p.K1771*; 17:26678685-26678685

c.4986G>A; p.W1662*; 17:26677114-26677114

c.1642-1G>T; p.?; 17:26572993-26572993

c.2425C>T; p.H809Y; 17:26580184-26580184

c.1260+2T>G; p.?; 17:26552631-26552631

c.4177_4178delGT; p.V1393fs*1; 17:26609491-26609492

c.1180_1181delTT; p.F394fs*1; 17:26552298-26552299

c.1177C>G; p.H393D; 17:26552295-26552295

c.1178A>T; p.H393L; 17:26552296-26552296

c.2953C>T; p.Q985*; 17:26581081-26581081

c.2446C>T; p.R816*; 17:26580205-26580205

c.1645_1646delCT; p.L549fs*8; 17:26572997-26572998

c.1179_1180delCT; p.F394fs*1; 17:26552297-26552298

c.2464G>T; p.G822*; 17:26580223-26580223

c.7348C>T; p.R2450*; 17:26701353-26701353

c.1062+1G>A; p.?; 17:26551740-26551740

c.2088delG; p.W696fs*1; 17:26577665-26577665

c.2339_2356del18; p.T780_Q786>K; 17:26578680-26578697

c.2382T>A; p.Y794*; 17:26578723-26578723

c.187_188insT; p.K63fs*4; 17:26507253-26507254

c.2445_2445delG; p.R815fs*6; 17:26580204-26580204

c.6684_6688delGTGGA; p.Q2228fs*12; 17:26689004-26689008

c.2033delC; p.P678fs*10; 17:26577610-26577610

c.4437_4438delCC; p.L1480fs*1; 17:26611519-26611520

c.1170_1170delC; p.N390fs*22; 17:26552288-26552288

c.6118_6119delTC; p.S2040fs*19; 17:26687588-26687589

c.1556A>C; p.Q519P; 17:26570177-26570177

c.574C>T; p.R192*; 17:26521129-26521129

c.5956_5957insAC; p.K1986fs*27; 17:26686125-26686126

c.5956_5957insCA; p.K1986fs*27; 17:26686125-26686126

c.5792_5792delT; p.S1932fs*10; 17:26681622-26681622

c.1885G>A; p.G629R; 17:26576278-26576278

c.5793_5793delT; p.S1932fs*10; 17:26681623-26681623

c.3124_3127GTAG>AT; p.V1042fs*17; 17:26581996-26581999

c.4875C>G; p.Y1625*; 17:26677003-26677003

c.5991G>A; p.W1997*; 17:26686160-26686160

c.4110+1G>C; p.?; 17:26600264-26600264

c.505_524del20; p.E169fs*1; 17:26521060-26521079

c.1417_1417delA; p.T473fs*25; 17:26565619-26565619

c.3721C>T; p.R1241*; 17:26586767-26586767

c.2990+1G>A; p.?; 17:26580610-26580610

c.528T>A; p.D176E; 17:26521083-26521083

c.1062+1G>A; p.?; 17:26551740-26551740

c.4408_4408delA; p.S1470fs*13; 17:26610251-26610251

c.6853_6869del17; p.Y2285fs*16; 17:26689881-26689897

c.2326G>A; p.A776T; 17:26578667-26578667

c.2326-1G>A; p.?; 17:26578666-26578666

c.1318C>T; p.R440*; 17:26557441-26557441

c.6472_6472delT; p.L2158fs*42; 17:26688556-26688556

c.6472_6473delTT; p.L2158fs*10; 17:26688556-26688557

c.4769T>G; p.L1590*; 17:26616417-26616417

c.7511_7511delT; p.A2505fs*18; 17:26703454-26703454

c.226_227insG; p.E76fs*31; 17:26510175-26510176

c.6472_6472delT; p.L2158fs*42; 17:26688556-26688556

c.4108C>T; p.Q1370*; 17:26600261-26600261

c.910C>T; p.R304*; 17:26551587-26551587

c.2855T>A; p.L952*; 17:26580983-26580983

c.3975_3975delG; p.R1325fs*2; 17:26600128-26600128

c.1888delG; p.V630fs*1; 17:26576281-26576281

c.3457_3460delCTCA; p.L1153fs*4; 17:26583986-26583989

c.4700C>G; p.S1567*; 17:26612977-26612977

c.7348C>T; p.R2450*; 17:26701353-26701353

c.988G>A; p.A330T; 17:26551665-26551665

c.3491_3491delC; p.I1165fs*1; 17:26584020-26584020

c.2990+1G>A; p.?; 17:26580610-26580610

c.4084C>T; p.R1362*; 17:26600237-26600237

c.1797G>A; p.W599*; 17:26574663-26574663

c.7512_7521del10; p.A2505fs*15; 17:26703455-26703464

c.3568_3647del80; p.G1190fs*1; 17:26584217-26584296

c.4451C>T; p.S1484F; 17:26611533-26611533

c.2990+1G>A; p.?; 17:26580610-26580610

c.3826C>T; p.R1276*; 17:26586872-26586872

c.1900_1907delATTCCTTC; p.I634fs*1; 17:26576293-26576300

c.3916C>T; p.R1306*; 17:26587107-26587107

c.1277G>A; p.W426*; 17:26557400-26557400

c.1732_1733insT; p.Y580fs*8; 17:26574598-26574599

c.5880C>A; p.C1960*; 17:26686049-26686049

c.7232_7232delG; p.R2411fs*7; 17:26700306-26700306

c.4803_4804insG; p.N1603fs*19; 17:26616451-26616452

c.1888delG; p.V630fs*1; 17:26576281-26576281

c.1_8520del8520; p.0?; 17:26446455-26725300

c.1_8520del8520; p.0?; 17:26446455-26725300

c.1_8520del8520; p.0?; 17:26446455-26725300

c.1062+1G>A; p.?; 17:26551740-26551740

c.3870+2T>A; p.?; 17:26586918-26586918

c.3975-2A>G; p.?; 17:26600126-26600126

c.5645G>T; p.C1882F; 17:26681475-26681475

c.1642-2A>T; p.?; 17:26572992-26572992

c.1721G>C; p.S574T; 17:26573073-26573073

c.3592G>T; p.E1198*; 17:26584241-26584241

c.2505G>C; p.Q835H; 17:26580264-26580264

c.2765G>T; p.G922V; 17:26580524-26580524

c.3375_3376delGC; p.Q1126fs*68; 17:26583904-26583905

c.487G>T; p.E163*; 17:26521042-26521042

c.2163_2164insT; p.G722fs*4; 17:26577740-26577741

c.5305C>T; p.R1769*; 17:26678679-26678679

c.5671C>T; p.Q1891*; 17:26681501-26681501

c.6819+1G>C; p.?; 17:26689284-26689284

c.6926_6927insAAAGA; p.P2310fs*11; 17:26691653-26691654

c.7549C>T; p.R2517*; 17:26703492-26703492

c.3125T>A; p.V1042E; 17:26581997-26581997

c.999C>G; p.Y333*; 17:26551676-26551676

c.1154G>C; p.R385P; 17:26552272-26552272

c.2534G>A; p.C845Y; 17:26580293-26580293

c.204+1G>C; p.?; 17:26507271-26507271

c.1846C>T; p.Q616*; 17:26576239-26576239

c.4711G>T; p.E1571*; 17:26612988-26612988

c.1260+1G>TGGGC; p.?; 17:26552630-26552630

c.2851G>T; p.V951F; 17:26580979-26580979

c.5608C>T; p.R1870W; 17:26678982-26678982

c.7962_7963insT; p.P2655fs*5; 17:26708505-26708506

c.7989_7990insT; p.K2664fs*1; 17:26709642-26709643

c.205-2A>G; p.?; 17:26510152-26510152

c.236T>A; p.L79*;

c.7288G>T; p.E2430*;

c.1549G>T; p.E517*; 17:26570170-26570170

c.3544G>T; p.V1182F; 17:26584193-26584193

c.7896_7897TG>GT; p.D2632E; 17:26708439-26708440

c.3198-1G>C; p.?; 17:26583216-26583216

c.2026_2027insC; p.I679fs*21; 17:26577603-26577604

c.403C>T; p.R135W; 17:26514444-26514444

c.?; p.S2701F;

c.8428A>G; p.S2810G;

c.7010T>G; p.L2337R; 17:26691737-26691737

c.7972C>T; p.H2658Y; 17:26709625-26709625

c.7790C>T; p.S2597L; 17:26708155-26708155

c.910C>T; p.R304*; 17:26551587-26551587

c.910C>T; p.R304*; 17:26551587-26551587

c.1105C>T; p.Q369*; 17:26552223-26552223

c.4006C>T; p.Q1336*; 17:26600159-26600159

c.?; p.Y628*;

c.?; p.Q514fs*43;

c.?; p.K1986fs*26;

c.?; p.Y998*;

c.1185+1G>A; p.?; 17:26552304-26552304

c.587_1062del476; p.?;

c.?; p.E1919*;

c.?; p.Q1360fs*20;

c.2990_2990delG; p.R997fs*15; 17:26581118-26581118

c.1884C>A; p.Y628*; 17:26576277-26576277

c.2027delC; p.P678fs*10; 17:26577604-26577604

c.4600C>T; p.R1534*; 17:26612877-26612877

c.911_911delG; p.R304fs*13; 17:26551588-26551588

c.2130_2131insCG; p.H712fs*37; 17:26577707-26577708

c.1381C>T; p.R461*; 17:26557504-26557504

c.7075_7076insT; p.F2360fs*26; 17:26691739-26691740

c.175A>C; p.T59P; 17:26507241-26507241

c.6667T>C; p.C2223R; 17:26688987-26688987

c.7370_7371delAT; p.H2457fs*8; 17:26701375-26701376

c.8261C>T; p.S2754F;

c.8261C>T; p.S2754F;

c.2695T>G; p.L899V;

c.2421delC; p.L808fs*13;

c.2461A>C; p.S821R;

c.1448A>G; p.D483G;

c.1700T>G; p.V567G;

c.2474C>G; p.S825C;

c.1400C>T; p.T467I;

c.1466A>G; p.Y489C; 17:26565668-26565668

c.1658A>G; p.H553R; 17:26573010-26573010

c.4669A>G; p.T1557A;

c.6094G>A; p.A2032T;

c.2695T>G; p.L899V;

c.2421delC; p.L808fs*13;

c.2461A>C; p.S821R;

c.1448A>G; p.D483G;

c.1700T>G; p.V567G;

c.2474C>G; p.S825C;

c.1400C>T; p.T467I;

c.910C>T; p.R304*; 17:26551587-26551587

c.1466A>G; p.Y489C; 17:26565668-26565668

c.1658A>G; p.H553R; 17:26573010-26573010

c.5083C>T; p.R1695W;

c.5572G>A; p.A1858T; 17:26678946-26678946

c.311T>C; p.L104S;

c.1246C>T; p.R416*; 17:26552615-26552615

c.2178G>C; p.V726V; 17:26577755-26577755

c.7171G>T; p.V2391F;

c.3406C>T; p.R1136W;

c.4643C>T; p.P1548L;

c.2633T>C; p.I878T;

c.5455G>A; p.A1819T;

c.3916C>T; p.R1306*; 17:26587107-26587107

c.2446C>T; p.R816*; 17:26580205-26580205

c.3610C>T; p.R1204W;

c.5305C>T; p.R1769*; 17:26678679-26678679

c.7348C>T; p.R2450*; 17:26701353-26701353

c.3870G>A; p.?; 17:26586916-26586916

c.6798G>C; p.Q2266H;

c.3607G>C; p.D1203H;

c.2324A>C; p.E775A;

c.8161-1G>T; p.?;

c.5905C>T; p.Q1969*;

c.751G>C; p.D251H;

c.4030G>A; p.E1344K;

c.7435C>G; p.H2479D;

c.3296A>T; p.K1099I;

c.7646C>G; p.S2549*; 17:26707634-26707634

c.7822_7823insT; p.E2608fs*5; 17:26708187-26708188

c.6852_6855delTTAC; p.Y2285fs*5; 17:26689880-26689883

c.6852_6855delTTAC; p.Y2285fs*5; 17:26689880-26689883

c.627G>T; p.Q209H;

c.629T>A; p.L210*;

c.5521C>T; p.Q1841*; 17:26678895-26678895

c.8057_8058delAG; p.S2687fs*5; 17:26709710-26709711

c.3419C>A; p.S1140*;

c.5488C>T; p.R1830C; 17:26678862-26678862

c.5440_5458del19; p.H1814fs*43; 17:26678814-26678832

c.5734_5737delAGTA; p.S1912fs*12; 17:26681564-26681567

c.6820-1G>C; p.?; 17:26691648-26691648

c.6852_6855delTTAC; p.Y2285fs*5; 17:26689880-26689883

c.6577_6578delGA; p.E2193fs*48; 17:26688661-26688662

c.654+2T>C; p.?; 17:26532635-26532635

c.1577T>G; p.I526S;

c.4938C>T; p.T1646T; 17:26677066-26677066

c.5902C>T; p.R1968*; 17:26686071-26686071

c.1466A>G; p.Y489C; 17:26565668-26565668

c.403C>T; p.R135W; 17:26514444-26514444

c.403C>T; p.R135W; 17:26514444-26514444

c.403C>T; p.R135W; 17:26514444-26514444

c.4594G>A; p.G1532R;

c.846G>A; p.Q282Q;

c.5852C>T; p.P1951L; 17:26686021-26686021

c.7646C>G; p.S2549*; 17:26707634-26707634

c.1933A>G; p.M645V;

c.1933A>G; p.M645V;

c.1933A>G; p.M645V;

c.1933A>G; p.M645V;

c.5694A>G; p.L1898L;

c.7415C>A; p.P2472H; 17:26701420-26701420

c.7415C>A; p.P2472H; 17:26701420-26701420

c.2703A>C; p.L901F;

c.2702_2703insGTCG; p.M902fs*5;

c.4958G>A; p.R1653H;

c.2134C>T; p.H712Y;

c.3065T>C; p.M1022T;

c.2325G>C; p.E775D;

c.1219C>G; p.H407D;

c.410C>T; p.S137F;

c.416C>T; p.S139F;

c.3407G>A; p.R1136Q;

c.3317A>G; p.Y1106C;

c.3497-5A>G; p.?;

c.6377T>C; p.V2126A;

c.1162C>A; p.P388T;

c.2033delC; p.P678fs*10; 17:26577610-26577610

c.2032_2033insC; p.I679fs*21; 17:26577609-26577610

c.221C>A; p.A74D; 17:26510170-26510170

c.7429C>T; p.P2477S; 17:26701434-26701434

c.221C>A; p.A74D; 17:26510170-26510170

c.7429C>T; p.P2477S; 17:26701434-26701434

c.8499T>G; p.N2833K; 17:26725278-26725278

c.3790G>A; p.E1264K; 17:26586836-26586836

c.6927G>A; p.S2309S;

c.1954C>T; p.R652C;

c.5062G>T; p.E1688*;

c.4945G>A; p.G1649R;

c.7062+6C>A; p.?;

c.7417A>G; p.M2473V;

c.3916C>T; p.R1306*; 17:26587107-26587107

c.8233G>A; p.G2745R; 17:26711703-26711703

c.8233G>A; p.G2745R; 17:26711703-26711703

c.4977_4980delCTCT; p.S1660fs*37; 17:26677105-26677108

c.8035A>G; p.N2679D;

c.6229G>A; p.D2077N;

c.2614G>A; p.E872K;

c.3548T>C; p.L1183P;

c.3975-2A>G; p.?; 17:26600126-26600126

c.5025C>A; p.S1675S;

c.2833T>C; p.F945L;

c.4082T>G; p.L1361R;

c.6758G>A; p.G2253E;

c.4048A>G; p.I1350V;

c.3520C>T; p.Q1174*;

c.528T>A; p.D176E; 17:26521083-26521083

c.2543G>T; p.G848V;

c.8044C>T; p.H2682Y;

c.5088G>T; p.L1696L;

c.8414C>A; p.T2805N;

c.800G>A; p.W267*;

c.4110+1G>A; p.?;

c.8511G>T; p.K2837N;

c.7851G>T; p.A2617A;

c.160G>T; p.V54F;

c.3870+1G>T; p.?;

c.6121G>T; p.G2041*;

c.678T>C; p.N226N;

c.4879G>T; p.V1627F;

c.2041C>T; p.R681*; 17:26577618-26577618

c.2990G>T; p.R997M;

c.3586_3587insT; p.A1197fs*7;

c.864G>T; p.V288V;

c.4490delC; p.F1498fs*2;

c.6330A>T; p.L2110F;

c.4558C>T; p.Q1520*; 17:26611640-26611640

c.1947A>G; p.E649E;

c.5905C>T; p.Q1969*;

c.5483G>A; p.R1828Q;

c.4332G>C; p.K1444N;

c.3709-2A>T; p.?;

c.1393-2_1400delagAGTCTTAC; p.?;

c.2061A>G; p.L687L;

c.4560G>T; p.Q1520H;

c.3280_3283delGAAT; p.E1094fs*1;

c.1989G>T; p.G663G;

c.3827G>A; p.R1276Q; 17:26586873-26586873

c.4818delT; p.Y1607fs*17; 17:26616466-26616466

c.8147G>A; p.G2716E;

c.6050C>T; p.T2017I;

c.4486C>T; p.L1496F;

c.8405C>T; p.S2802F;

c.7484C>T; p.S2495F;

c.8265C>T; p.L2755L;

c.3936_3939delTGAT; p.D1313fs*13;

c.7181delT; p.L2395fs*1;

c.6576T>A; p.Y2192*;

c.6019C>T; p.L2007F;

c.6351C>T; p.S2117S;

c.1866T>A; p.C622*; 17:26576259-26576259

c.4061C>T; p.S1354F;

c.1318C>T; p.R440*; 17:26557441-26557441

c.7805A>T; p.N2602I;

c.8000delC; p.L2668fs*11;

c.5545G>T; p.D1849Y;

c.3968C>T; p.P1323L;

c.1603C>T; p.Q535*; 17:26570224-26570224

c.5123T>G; p.F1708C;

c.7451C>T; p.S2484F; 17:26701456-26701456

c.3559C>A; p.L1187I; 17:26584208-26584208

c.7501G>T; p.E2501*;

c.6691G>T; p.E2231*;

c.410C>T; p.S137F;

c.416C>T; p.S139F;

c.3818_3819delCT; p.F1275fs*8;

c.7468G>A; p.E2490K;

c.6468C>A; p.F2156L; 17:26688552-26688552

c.7971-1G>T; p.?;

c.3933_3934delCT; p.S1312fs*1;

c.7123G>C; p.D2375H;

c.4600C>T; p.R1534*; 17:26612877-26612877

c.2970_2970delA; p.M991fs*1; 17:26581098-26581098

c.1866T>A; p.C622*; 17:26576259-26576259

c.4529_4529delT; p.L1510fs*64; 17:26611611-26611611

c.1318C>T; p.R440*; 17:26557441-26557441

c.5902C>T; p.R1968*; 17:26686071-26686071

c.1381C>T; p.R461*; 17:26557504-26557504

c.7909C>T; p.R2637*; 17:26708452-26708452

c.2659G>A; p.A887T; 17:26580418-26580418

c.4638_4638delG; p.G1547fs*27; 17:26612915-26612915

c.6850_6853delACTT; p.Y2285fs*5; 17:26689878-26689881

c.4942A>T; p.T1648S; 17:26677070-26677070

c.1641+1G>T; p.?; 17:26570263-26570263

c.6850_6853delACTT; p.Y2285fs*5; 17:26689878-26689881

c.6746_6748delTTG; p.V2250del; 17:26689210-26689212

c.3735_3744del10; p.F1247fs*16; 17:26586781-26586790

c.4958G>T; p.R1653L;

c.3875A>G; p.Y1292C;

c.4237T>G; p.F1413V;

c.103A>G; p.S35G;

c.109G>A; p.E37K;

c.1496T>C; p.L499P; 17:26565698-26565698

c.8132_8133insT; p.L2711fs*19;

c.6852delT; p.Y2285fs*6;

c.6852_6855delTTAC; p.Y2285fs*5; 17:26689880-26689883

c.5104G>T; p.G1702C;

c.?; p.Y1635*;

c.3826C>T; p.R1276*; 17:26586872-26586872

c.7348C>T; p.R2450*; 17:26701353-26701353

c.1722-28_1732del39; p.?; 17:26574560-26574598

c.7006G>A; p.A2336T; 17:26691733-26691733

c.8325C>T; p.N2775N; 17:26711795-26711795

c.6951G>A; p.W2317*; 17:26691678-26691678

c.2990G>A; p.R997K; 17:26581118-26581118

c.6428-1G>A; p.?; 17:26688511-26688511

c.4333-1G>A; p.?; 17:26610175-26610175

c.5305C>T; p.R1769*; 17:26678679-26678679

c.2545G>T; p.G849*; 17:26580304-26580304

c.6009delT; p.T2004fs*8; 17:26687479-26687479

c.7012delC; p.L2338fs*8; 17:26691739-26691739

c.4977_4980delCTCT; p.S1660fs*37; 17:26677105-26677108

c.4236A>T; p.R1412S; 17:26609550-26609550

c.4986G>A; p.W1662*; 17:26677114-26677114

c.4330A>G; p.K1444E; 17:26609644-26609644

c.334C>T; p.Q112*; 17:26514375-26514375

c.6264G>C; p.L2088L;

c.7069G>T; p.E2357*;

c.6519T>G; p.A2173A;

c.5959C>T; p.Q1987*; 17:26686128-26686128

c.6995C>A; p.S2332*; 17:26691722-26691722

c.387G>A; p.Q129Q; 17:26514428-26514428

c.2033_2034insC; p.I679fs*21; 17:26577610-26577611

c.6906delG; p.Q2302fs*17; 17:26689934-26689934

c.4339C>A; p.Q1447K; 17:26610182-26610182

c.4600C>T; p.R1534*; 17:26612877-26612877

c.5609+1G>A; p.?; 17:26678984-26678984

c.5755G>A; p.E1919K; 17:26681585-26681585

c.1897delG; p.D633fs*55; 17:26576290-26576290

c.5545G>A; p.D1849N; 17:26678919-26678919

c.574C>T; p.R192*; 17:26521129-26521129

c.237_238insT; p.Y80fs*27;

c.4747G>T; p.E1583*;

c.1649T>C; p.L550P; 17:26573001-26573001

c.910C>T; p.R304*; 17:26551587-26551587

c.581T>C; p.L194P; 17:26521136-26521136

c.174C>T; p.L58L;

c.7895A>T; p.D2632V;

c.543G>T; p.Q181H;

c.1032A>G; p.L344L;

c.5941A>G; p.M1981V;

c.2712T>A; p.C904*;

c.245C>G; p.S82C;

c.7063-2A>G; p.?;

c.5588G>C; p.G1863A; 17:26678962-26678962

c.5330_5333delTCTT; p.F1778fs*1;

c.7246C>G; p.L2416V; 17:26700320-26700320

c.731-1G>T; p.?; 17:26533651-26533651

c.5572G>A; p.A1858T; 17:26678946-26678946

c.252_270del19; p.I85fs*12; 17:26510201-26510219

c.5845_5863del19; p.M1949fs*2; 17:26686014-26686032

c.6284_6285insT; p.V2096fs*24; 17:26687915-26687916

c.3474_3486del13; p.S1159fs*3;

c.4333_4337delATACT; p.I1445fs*20;

c.1831_1832ins10; p.N614fs*3;

c.1766_1783del18; p.M590_E595delMLSSTE;

c.1398_1399insA; p.T467fs*3;

c.5357C>A; p.S1786*;

c.6691G>T; p.E2231*;

c.8003T>A; p.L2668Q;

c.8001C>A; p.T2667T;

c.1696C>G; p.P566A;

c.7063-1G>T; p.?;

c.6772C>T; p.R2258*;

c.3624G>T; p.L1208F;

c.5444A>T; p.Q1815L;

c.5201A>T; p.E1734V;

c.5003G>T; p.G1668V;

c.7013T>A; p.L2338H;

c.5812+2T>A; p.?;

c.2991G>T; p.R997S;

c.1657C>T; p.H553Y;

c.1558G>C; p.G520R;

c.376G>T; p.E126*;

c.1481T>A; p.L494*;

c.241C>G; p.L81V;

c.7815G>T; p.L2605F;

c.2251G>T; p.G751*;

c.5839G>T; p.E1947*;

c.6820-1G>C; p.?; 17:26691648-26691648

c.2375T>A; p.L792H;

c.2767C>G; p.L923V;

c.5645G>A; p.C1882Y;

c.6675G>A; p.W2225*;

c.7146C>G; p.F2382L;

c.7444G>A; p.D2482N;

c.3478G>T; p.G1160C;

c.6640G>T; p.E2214*; 17:26688724-26688724

c.4441G>C; p.D1481H;

c.7474C>T; p.Q2492*;

c.8466G>C; p.Q2822H;

c.744G>C; p.K248N;

c.5188A>C; p.T1730P;

c.4431-25_4434del29; p.?;

c.4107C>A; p.Y1369*;

c.1186-2A>G; p.?;

c.7317A>T; p.L2439F;

c.1444A>G; p.T482A;

c.7116G>T; p.K2372N;

c.1007G>A; p.W336*;

c.6007-1G>T; p.?;

c.7003A>C; p.T2335P;

c.6070G>T; p.G2024*;

c.2741G>T; p.R914L;

c.6101C>T; p.T2034I;

c.5609+1G>T; p.?;

c.2004T>C; p.D668D;

c.6855C>A; p.Y2285*; 17:26689883-26689883

c.935G>C; p.G312A;

c.1182T>C; p.F394F;

c.5018A>G; p.N1673S;

c.3845G>T; p.S1282I;

c.6550G>A; p.D2184N;

c.3126A>G; p.V1042V;

c.1713G>A; p.W571*;

c.1570G>C; p.E524Q;

c.3144G>A; p.W1048*;

c.6354_6355insC; p.R2119fs*10;

c.5177T>G; p.L1726R;

c.3228A>G; p.V1076V;

c.4560G>A; p.Q1520Q;

c.6853T>C; p.Y2285H;

c.272A>G; p.E91G;

c.2026_2027insC; p.I679fs*21; 17:26577603-26577604

c.6512A>G; p.K2171R;

c.2448A>G; p.R816R;

c.4560G>C; p.Q1520H;

c.3050A>G; p.Q1017R;

c.3772T>C; p.W1258R;

c.3722G>T; p.R1241L;

c.5546A>G; p.D1849G;

c.4341G>T; p.Q1447H;

c.2051A>G; p.Q684R;

c.3975-2A>T; p.?;

c.3376C>T; p.Q1126*;

c.2556C>T; p.L852L;

c.4054A>G; p.S1352G;

c.7877_7904del28; p.V2627fs*8;

c.654+1_654+2insT; p.?;

c.4333-1G>T; p.?;

c.1570G>T; p.E524*;

c.7348C>T; p.R2450*; 17:26701353-26701353

c.1246C>A; p.R416R;

c.4339C>A; p.Q1447K; 17:26610182-26610182

c.8235A>G; p.G2745G;

c.5521C>A; p.Q1841K;

c.4937C>T; p.T1646I;

c.5951A>G; p.N1984S;

c.7416T>A; p.P2472P;

c.2448A>G; p.R816R;

c.3545T>C; p.V1182A;

c.3721C>A; p.R1241R;

c.7349G>A; p.R2450Q;

c.7452C>A; p.S2484S;

c.7647A>G; p.S2549S;

c.2850+1G>A; p.?;

c.7431C>A; p.P2477P;

c.3827G>A; p.R1276Q; 17:26586873-26586873

c.7630T>G; p.F2544V;

c.4136A>C; p.K1379T;

c.8514C>T; p.I2838I;

c.7211C>T; p.A2404V;

c.3827G>A; p.R1276Q; 17:26586873-26586873

c.3916C>T; p.R1306*; 17:26587107-26587107

c.2147A>T; p.E716V;

c.5490C>A; p.R1830R;

c.4578-2A>G; p.?; 17:26612853-26612853

c.5973T>C; p.S1991S;

c.7416T>A; p.P2472P;

c.5644T>C; p.C1882R;

c.1246C>T; p.R416*; 17:26552615-26552615

c.7430C>A; p.P2477H;

c.6450A>G; p.R2150R;

c.2889A>C; p.Q963H;

c.4589C>A; p.A1530D;

c.4821T>G; p.Y1607*;

c.1318_1319CG>TA; p.R440>?;

c.5357C>T; p.S1786L;

c.3917G>T; p.R1306L;

c.4502A>G; p.D1501G;

c.527_529delATA; p.D176_I177>V;

c.534_535delAT; p.E178fs*22;

c.7053C>G; p.F2351L;

c.3748C>T; p.R1250W;

c.1381C>T; p.R461*; 17:26557504-26557504

c.6216T>C; p.H2072H;

c.7079T>G; p.F2360C;

c.1519T>G; p.L507V;

c.6469T>C; p.S2157P;

c.8203C>A; p.L2735I;

c.1382G>A; p.R461Q;

c.7348C>T; p.R2450*; 17:26701353-26701353

c.467G>A; p.R156H;

c.647T>C; p.L216P;

c.3576A>C; p.E1192D;

c.4206C>T; p.I1402I;

c.7239A>G; p.L2413L;

c.4341G>C; p.Q1447H;

c.4578-2A>T; p.?;

c.4936A>T; p.T1646S;

c.5488C>T; p.R1830C; 17:26678862-26678862

c.7789T>C; p.S2597P;

c.7348C>T; p.R2450*; 17:26701353-26701353

c.4525C>T; p.R1509C;

c.4747G>T; p.E1583*;

c.1860T>G; p.S620R;

c.3325T>C; p.L1109L;

c.3574G>T; p.E1192*;

c.4171T>C; p.S1391P;

c.7388T>G; p.L2463R;

c.4766C>T; p.T1589M;

c.5609G>A; p.R1870Q;

c.7305C>T; p.S2435S;

c.483A>T; p.L161F;

c.821T>C; p.L274P;

c.1557A>G; p.Q519Q;

c.273A>G; p.E91E;

c.2026_2027insC; p.I679fs*21; 17:26577603-26577604

c.1876_1877insT; p.Y628fs*6;

c.5852C>T; p.P1951L; 17:26686021-26686021

c.7006G>A; p.A2336T; 17:26691733-26691733

c.7789T>C; p.S2597P;

c.7085C>T; p.A2362V;

c.8265C>A; p.L2755L;

c.7909C>T; p.R2637*; 17:26708452-26708452

c.3916C>T; p.R1306*; 17:26587107-26587107

c.5852C>T; p.P1951L; 17:26686021-26686021

c.2246C>A; p.S749*;

c.5546A>G; p.D1849G;

c.7646C>T; p.S2549L;

c.1556A>G; p.Q519R;

c.6950G>T; p.W2317L;

c.5852C>T; p.P1951L; 17:26686021-26686021

c.2990G>T; p.R997M;

c.335A>G; p.Q112R;

c.7791A>G; p.S2597S;

c.1557A>G; p.Q519Q;

c.4331A>G; p.K1444R;

c.911G>T; p.R304L;

c.3560T>C; p.L1187P;

c.7645T>C; p.S2549P;

c.2567G>A; p.S856N;

c.8233G>T; p.G2745*;

c.1318C>T; p.R440*; 17:26557441-26557441

c.7348C>T; p.R2450*; 17:26701353-26701353

c.2972T>A; p.M991K;

c.5643T>G; p.T1881T;

c.2515A>G; p.N839D;

c.5872C>T; p.R1958C;

c.2294G>T; p.R765L;

c.4851A>C; p.Q1617H;

c.5680G>C; p.E1894Q;

c.5664C>T; p.I1888I;

c.158T>A; p.L53*;

c.1392+1G>T; p.?;

c.8036A>G; p.N2679S;

c.3737_3740delTGTT; p.F1247fs*18;

c.2695T>G; p.L899V;

c.204+1G>A; p.?; 17:26507271-26507271

c.5365G>A; p.E1789K;

c.7783A>G; p.K2595E;

c.4022A>C; p.Q1341P;

c.961G>T; p.A321S;

c.3039G>A; p.T1013T;

c.4998T>C; p.F1666F;

c.169G>A; p.G57S;

c.6563C>T; p.S2188F;

c.5665G>A; p.E1889K;

c.2266C>T; p.Q756*; 17:26578376-26578376

c.4333-1G>T; p.?;

c.7008A>G; p.A2336A;

c.481T>C; p.L161L;

c.5756A>G; p.E1919G;

c.5557A>G; p.T1853A;

c.7647A>G; p.S2549S;

c.3917G>T; p.R1306L;

c.4768T>C; p.L1590L;

c.4053C>G; p.I1351M;

c.501T>C; p.C167C;

c.5488C>T; p.R1830C; 17:26678862-26678862

c.1550A>G; p.E517G;

c.4384C>T; p.R1462W;

c.3714A>G; p.E1238E;

c.2504A>G; p.Q835R;

c.3773G>A; p.W1258*;

c.4022A>T; p.Q1341L;

c.5523A>G; p.Q1841Q;

c.4985G>T; p.W1662L;

c.7415C>A; p.P2472H; 17:26701420-26701420

c.1556A>G; p.Q519R;

c.5960A>G; p.Q1987R;

c.3916C>T; p.R1306*; 17:26587107-26587107

c.3827G>T; p.R1276L;

c.3917G>A; p.R1306Q;

c.4985G>T; p.W1662L;

c.2990G>T; p.R997M;

c.2545G>T; p.G849*; 17:26580304-26580304

c.8235A>T; p.G2745G;

c.7415C>A; p.P2472H; 17:26701420-26701420

c.222T>C; p.A74A;

c.2617C>T; p.R873C;

c.5951A>G; p.N1984S;

c.540A>G; p.L180L;

c.3723A>G; p.R1241R;

c.7533C>T; p.V2511V;

c.3772T>C; p.W1258R;

c.205-2A>G; p.?; 17:26510152-26510152

c.4331A>G; p.K1444R;

c.7789T>C; p.S2597P;

c.7458-1G>A; p.?;

c.1641+1G>A; p.?; 17:26570262-26570262

c.2829_2830insT; p.D946fs*1;

c.4768T>C; p.L1590L;

c.4768T>C; p.L1590L;

c.6626T>C; p.L2209S;

c.34G>A; p.A12T;

c.5367A>G; p.E1789E;

c.4084C>T; p.R1362*; 17:26600237-26600237

c.1381C>T; p.R461*; 17:26557504-26557504

c.6471A>G; p.S2157S;

c.2233A>G; p.S745G;

c.2741G>T; p.R914L;

c.7850C>T; p.A2617V;

c.217G>T; p.E73*;

c.1721+7G>A; p.?;

c.5509G>A; p.D1837N;

c.5626C>A; p.L1876I;

c.1603C>A; p.Q535K;

c.6467T>C; p.F2156S;

c.1659T>C; p.H553H;

c.1247G>A; p.R416Q;

c.5755G>A; p.E1919K; 17:26681585-26681585

c.8323A>G; p.N2775D;

c.7006G>A; p.A2336T; 17:26691733-26691733

c.6854A>G; p.Y2285C;

c.5489G>A; p.R1830H;

c.581T>C; p.L194P; 17:26521136-26521136

c.5950A>G; p.N1984D;

c.6466T>C; p.F2156L;

c.1039C>T; p.Q347*;

c.7184_7189+1delTAAAAGg; p.?;

c.7791A>G; p.S2597S;

c.1641G>A; p.E547E;

c.822T>C; p.L274L;

c.2851-2A>T; p.?;

c.655-1G>T; p.?; 17:26532853-26532853

c.4022A>G; p.Q1341R;

c.272A>G; p.E91G;

c.4084C>T; p.R1362*; 17:26600237-26600237

c.3545T>C; p.V1182A;

c.5961G>T; p.Q1987H;

c.7431C>A; p.P2477P;

c.7645T>C; p.S2549P;

c.3560T>C; p.L1187P;

c.3050A>T; p.Q1017L;

c.4602A>G; p.R1534R;

c.6474A>G; p.L2158L;

c.6327C>T; p.F2109F;

c.3645G>A; p.M1215I;

c.2573C>A; p.S858Y;

c.2373C>G; p.I791M;

c.2193C>T; p.L731L;

c.1198C>T; p.Q400*;

c.4984T>C; p.W1662R;

c.4722_4724+1delTAGg; p.?;

c.951_952delAG; p.E318fs*11;

c.6450A>G; p.R2150R;

c.1007G>T; p.W336L;

c.6854A>G; p.Y2285C;

c.3772T>C; p.W1258R;

c.1243C>T; p.H415Y;

c.5444A>G; p.Q1815R;

c.3773G>T; p.W1258L;

c.1625C>A; p.A542D;

c.3916C>T; p.R1306*; 17:26587107-26587107

c.6950G>T; p.W2317L;

c.1720A>G; p.S574G;

c.3375G>A; p.A1125A;

c.538T>C; p.L180L;

c.2766T>C; p.G922G;

c.222T>C; p.A74A;

c.7762C>T; p.Q2588*; 17:26708127-26708127

c.8474G>C; p.R2825T;

c.1997C>G; p.S666C;

c.5546A>G; p.D1849G;

c.1649T>C; p.L550P; 17:26573001-26573001

c.3546T>C; p.V1182V;

c.5756A>G; p.E1919G;

c.6450A>G; p.R2150R;

c.1642-2A>G; p.?;

c.3709-2A>G; p.?; 17:26586753-26586753

c.6450A>G; p.R2150R;

c.4340A>G; p.Q1447R;

c.7415C>A; p.P2472H; 17:26701420-26701420

c.5305C>T; p.R1769*; 17:26678679-26678679

c.7870-2A>G; p.?;

c.7458-1G>T; p.?;

c.7647A>G; p.S2549S;

c.574C>T; p.R192*; 17:26521129-26521129

c.681T>C; p.Y227Y;

c.4760T>C; p.L1587S;

c.1381C>A; p.R461R;

c.1611C>T; p.H537H;

c.1661A>G; p.Q554R;

c.7615+1G>A; p.?;

c.3855G>T; p.M1285I;

c.7415C>A; p.P2472H; 17:26701420-26701420

c.1339C>T; p.L447F;

c.3158C>G; p.S1053*;

c.5640A>G; p.L1880L;

c.5640A>G; p.L1880L;

c.5640A>G; p.L1880L;

c.4535G>T; p.W1512L;

c.5640A>G; p.L1880L;

c.6264G>A; p.L2088L;

c.6317T>C; p.V2106A;

c.5640A>G; p.L1880L;

c.4526G>A; p.R1509H;

c.6921G>A; p.?; 17:26689949-26689949

c.?; p.E196fs*?;

c.801G>A; p.W267*;

c.801G>A; p.W267*;

c.784C>T; p.R262C;

c.2351G>A; p.W784*;

c.5142A>T; p.K1714N;

c.7487C>T; p.S2496F;

c.3975-2A>T; p.?;

c.4392C>G; p.F1464L;

c.7655_7659delAGGCT; p.K2552fs*2;

c.586+2T>C; p.?;

c.2187T>A; p.H729Q;

c.6074C>T; p.S2025L;

c.8210C>T; p.A2737V;

c.1246C>T; p.R416*; 17:26552615-26552615

c.3610C>T; p.R1204W;

c.3250C>T; p.P1084S;

c.3721C>T; p.R1241*; 17:26586767-26586767

c.6278C>T; p.S2093F;

c.2915T>C; p.L972P;

c.682C>T; p.P228S;

c.7300C>T; p.Q2434*;

c.6323_6326delCTTT; p.F2109fs*1;

c.2079_2087delGTTTCTGTG; p.F694_W696delFLW;

c.1186-1G>A; p.?;

c.5276C>T; p.S1759F;

c.4617G>T; p.M1539I;

c.590C>A; p.T197K;

c.5670C>A; p.G1890G;

c.6643-8delt; p.?;

c.6818A>C; p.K2273T;