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.5361C>T; p.L1787L; 9:136502295-136502295

c.7513C>A; p.P2505T; 9:136496226-136496226

c.7194G>A; p.Q2398Q; 9:136496545-136496545

c.221G>T; p.C74F; 9:136523899-136523899

c.1380G>A; p.P460P; 9:136517813-136517813

c.4548C>T; p.F1516F; 9:136505348-136505348

c.927C>G; p.G309G; 9:136518763-136518763

c.6867C>G; p.S2289R; 9:136496872-136496872

c.5767C>T; p.Q1923*; 9:136500719-136500719

c.2205C>T; p.N735N; 9:136514512-136514512

c.6012C>T; p.R2004R; 9:136499182-136499182

c.4729G>A; p.V1577M; 9:136504962-136504962

c.7369C>G; p.L2457V; 9:136496370-136496370

c.7369C>G; p.L2457V; 9:136496370-136496370

c.5785G>T; p.E1929*; 9:136500701-136500701

c.2740+1G>T; p.?; 9:136510652-136510652

c.1441G>A; p.G481S; 9:136517752-136517752

c.3206A>G; p.K1069R; 9:136508351-136508351

c.6133G>A; p.V2045I; 9:136498946-136498946

c.345C>T; p.G115G; 9:136523775-136523775

c.7326_7327insCC; p.V2443fs*35; 9:136496412-136496413

c.7292_7293ins50; p.S2432fs*20; 9:136496446-136496447

c.7292_7293ins50; p.S2432fs*20; 9:136496446-136496447

c.1590C>T; p.D530D; 9:136516060-136516060

c.847T>A; p.C283S; 9:136519461-136519461

c.5765A>G; p.N1922S; 9:136500721-136500721

c.1268G>A; p.C423Y; 9:136517925-136517925

c.7326_7327ins16; p.V2443fs*69; 9:136496412-136496413

c.7357_7358insCG; p.V2453fs*25; 9:136496381-136496382

c.1085C>T; p.P362L; 9:136518605-136518605

c.5161_5162ins42; p.A1720_V1721ins14; 9:136503187-136503188

c.1057C>T; p.R353C; 9:136518633-136518633

c.4778_4779insCCCCCT; p.L1593_R1594insPL; 9:136504912-136504913

c.2003delC; p.P668fs*104; 9:136515301-136515301

c.7318C>T; p.Q2440*; 9:136496421-136496421

c.2830G>T; p.E944*; 9:136509872-136509872

c.7318C>T; p.Q2440*; 9:136496421-136496421

c.7051_7052insC; p.H2351fs*3; 9:136496687-136496688

c.7318C>T; p.Q2440*; 9:136496421-136496421

c.7318C>T; p.Q2440*; 9:136496421-136496421

c.5126T>C; p.L1709P; 9:136503223-136503223

c.7003_7004insC; p.L2335fs*19; 9:136496735-136496736

c.5495C>G; p.P1832R; 9:136501891-136501891

c.7003_7004insC; p.L2335fs*19; 9:136496735-136496736

c.4971C>T; p.S1657S; 9:136504720-136504720

c.7318C>T; p.Q2440*; 9:136496421-136496421

c.7318C>T; p.Q2440*; 9:136496421-136496421

c.5126T>C; p.L1709P; 9:136503223-136503223

c.5126T>C; p.L1709P; 9:136503223-136503223

c.7318C>T; p.Q2440*; 9:136496421-136496421

c.7318C>T; p.Q2440*; 9:136496421-136496421

c.7318C>T; p.Q2440*; 9:136496421-136496421

c.5126T>C; p.L1709P; 9:136503223-136503223

c.7029_7031GCA>TCCA; p.Q2343fs*11; 9:136496708-136496710

c.4045G>T; p.A1349S; 9:136505851-136505851

c.7302_7303insGGGTG; p.S2435fs*2; 9:136496436-136496437

c.2083G>A; p.D695N; 9:136514634-136514634

c.7535C>T; p.P2512L; 9:136496204-136496204

c.1264C>T; p.P422S; 9:136517929-136517929

c.7543G>T; p.E2515*; 9:136496196-136496196

c.7535C>T; p.P2512L; 9:136496204-136496204

c.5362G>A; p.G1788S; 9:136502294-136502294

c.166C>T; p.R56*; 9:136523954-136523954

c.1264C>T; p.P422S; 9:136517929-136517929

c.4817_4818insGAGGTTTCT; p.F1606>LRFL; 9:136504873-136504874

c.4773_4774insTAC; p.H1591_F1592insY; 9:136504917-136504918

c.4031C>T; p.T1344M; 9:136505865-136505865

c.7513_7515CCT>21; p.P2505>CD*; 9:136496224-136496226

c.4754T>G; p.L1585R; 9:136504937-136504937

c.7220G>A; p.S2407N; 9:136496519-136496519

c.7359G>A; p.V2453V; 9:136496380-136496380

c.4754T>G; p.L1585R; 9:136504937-136504937

c.4366G>A; p.E1456K; 9:136505530-136505530

c.4985G>T; p.R1662L; 9:136504706-136504706

c.4775_4776insGGG; p.F1592>LG; 9:136504915-136504916

c.4768_4785>12; p.F1590_E1595>LLGG; 9:136504906-136504923

c.7201_7237del37; p.N2401fs*9; 9:136496502-136496538

c.3249C>T; p.C1083C; 9:136508308-136508308

c.3134G>A; p.C1045Y; 9:136508907-136508907

c.7220G>A; p.S2407N; 9:136496519-136496519

c.7399_7400insAGGTTACCC; p.S2467>*; 9:136496339-136496340

c.1270G>A; p.E424K; 9:136517923-136517923

c.3471G>A; p.G1157G; 9:136507994-136507994

c.5074T>C; p.C1692R; 9:136503275-136503275

c.3270C>T; p.T1090T; 9:136508287-136508287

c.7516G>T; p.E2506*; 9:136496223-136496223

c.6738C>G; p.H2246Q; 9:136497001-136497001

c.3250G>T; p.E1084*; 9:136508307-136508307

c.5074T>C; p.C1692R; 9:136503275-136503275

c.1270G>A; p.E424K; 9:136517923-136517923

c.6593C>T; p.S2198L; 9:136497146-136497146

c.6738C>G; p.H2246Q; 9:136497001-136497001

c.7516G>T; p.E2506*; 9:136496223-136496223

c.7258G>C; p.G2420R; 9:136496481-136496481

c.4413G>A; p.A1471A; 9:136505483-136505483

c.5153T>C; p.I1718T; 9:136503196-136503196

c.5513C>G; p.T1838R; 9:136501873-136501873

c.6970_6979del10; p.N2324fs*9; 9:136496760-136496769

c.7199C>A; p.A2400E; 9:136496540-136496540

c.2806G>T; p.G936C; 9:136509896-136509896

c.5153T>C; p.I1718T; 9:136503196-136503196

c.7515T>G; p.P2505P; 9:136496224-136496224

c.7515T>G; p.P2505P; 9:136496224-136496224

c.3458C>A; p.P1153H; 9:136508007-136508007

c.6921A>G; p.Q2307Q; 9:136496818-136496818

c.995G>A; p.C332Y; 9:136518695-136518695

c.995G>A; p.C332Y; 9:136518695-136518695

c.6979C>T; p.R2327W; 9:136496760-136496760

c.6979C>T; p.R2327W; 9:136496760-136496760

c.995G>A; p.C332Y; 9:136518695-136518695

c.6979C>T; p.R2327W; 9:136496760-136496760

c.6180+6C>T; p.?; 9:136498893-136498893

c.108_109delGT; p.C37fs*1; 9:136544055-136544056

c.6979C>T; p.R2327W; 9:136496760-136496760

c.7508A>G; p.Q2503R; 9:136496231-136496231

c.7281_7288CCACCTGG>17; p.L2429_G2430>CLVSR; 9:136496451-136496458

c.2364C>T; p.C788C; 9:136513124-136513124

c.6112G>T; p.V2038L; 9:136498967-136498967

c.775G>A; p.D259N; 9:136519533-136519533

c.6112G>T; p.V2038L; 9:136498967-136498967

c.82G>A; p.G28S; 9:136544082-136544082

c.775G>A; p.D259N; 9:136519533-136519533

c.7327_7328ins9; p.V2443>G*; 9:136496411-136496412

c.4361G>T; p.C1454F; 9:136505535-136505535

c.1374G>A; p.S458S; 9:136517819-136517819

c.1282A>T; p.K428*; 9:136517911-136517911

c.3841A>T; p.T1281S; 9:136506776-136506776

c.4774_4776TTC>CCA; p.F1592P; 9:136504915-136504917

c.4747_4748insCCC; p.E1583>AQ; 9:136504943-136504944

c.5022_5023insGGG; p.S1674_I1675insG; 9:136503326-136503327

c.4733T>A; p.V1578E; 9:136504958-136504958

c.6254C>T; p.A2085V; 9:136497485-136497485

c.7328_7329insGGGCATC; p.Q2444fs*65; 9:136496410-136496411

c.5810G>A; p.R1937H; 9:136500676-136500676

c.4271T>C; p.L1424S; 9:136505625-136505625

c.5358C>T; p.P1786P; 9:136502298-136502298

c.2969+9G>T; p.?; 9:136509724-136509724

c.4817_4818insGGACCC; p.F1606>LDP; 9:136504873-136504874

c.2969+9G>T; p.?; 9:136509724-136509724

c.5098G>C; p.A1700P; 9:136503251-136503251

c.4727T>A; p.V1576E; 9:136504964-136504964

c.328C>T; p.P110S; 9:136523792-136523792

c.1270G>C; p.E424Q; 9:136517923-136517923

c.4721_4722TG>CT; p.L1574P; 9:136504969-136504970

c.7519C>T; p.H2507Y; 9:136496220-136496220

c.7328_7329insCGACGAGT; p.Q2444fs*36; 9:136496410-136496411

c.7283delA; p.H2428fs*7; 9:136496456-136496456

c.2079C>A; p.C693*; 9:136514638-136514638

c.6042C>T; p.L2014L; 9:136499152-136499152

c.6423G>A; p.S2141S; 9:136497316-136497316

c.5806G>A; p.A1936T; 9:136500680-136500680

c.6180+9G>A; p.?; 9:136498890-136498890

c.4748_4749ins15; p.E1583_Q1584insYPP*; 9:136504942-136504943

c.5806G>A; p.A1936T; 9:136500680-136500680

c.3432C>A; p.D1144E; 9:136508033-136508033

c.5806G>A; p.A1936T; 9:136500680-136500680

c.674C>A; p.S225*; 9:136522918-136522918

c.7568C>A; p.S2523*; 9:136496171-136496171

c.7568C>A; p.S2523*; 9:136496171-136496171

c.4825_4899del75; p.D1609_R1633del25; 9:136504792-136504866

c.3902-3_3903delTAGGG; p.?; 9:136506638-136506642

c.7568C>A; p.S2523*; 9:136496171-136496171

c.5015G>A; p.R1672H; 9:136504676-136504676

c.2759delG; p.G920fs*259; 9:136509943-136509943

c.3902-3_3903delTAGGG; p.?; 9:136506638-136506642

c.3643G>T; p.G1215C; 9:136507305-136507305

c.5161_5162ins12; p.V1721>APGQL; 9:136503187-136503188

c.546T>G; p.C182W; 9:136523046-136523046

c.5032_5033delCT; p.L1678fs*3; 9:136503316-136503317

c.338A>G; p.N113S; 9:136523782-136523782

c.1664C>T; p.T555M; 9:136515986-136515986

c.5214_5215ins33; p.Y1738_V1739ins11; 9:136502441-136502442

c.6018C>T; p.A2006A; 9:136499176-136499176

c.546T>G; p.C182W; 9:136523046-136523046

c.546T>G; p.C182W; 9:136523046-136523046

c.4850_4851insTAAGAA; p.F1617_P1618insKN; 9:136504840-136504841

c.4741_4743delCCG; p.P1581del; 9:136504948-136504950

c.7342_7360del19; p.P2448fs*23; 9:136496379-136496397

c.7168_7169insGGCCC; p.L2390fs*34; 9:136496570-136496571

c.6940C>T; p.L2314L; 9:136496799-136496799

c.7531_7541del11; p.T2511fs*1; 9:136496198-136496208

c.4921C>T; p.P1641S; 9:136504770-136504770

c.4848delC; p.F1617fs*32; 9:136504843-136504843

c.4721T>C; p.L1574P; 9:136504970-136504970

c.4721T>C; p.L1574P; 9:136504970-136504970

c.1205C>A; p.S402*; 9:136518187-136518187

c.7328_7329insGG; p.Q2444fs*34; 9:136496410-136496411

c.5026G>A; p.V1676I; 9:136503323-136503323

c.4721T>C; p.L1574P; 9:136504970-136504970

c.7606G>A; p.V2536I; 9:136496133-136496133

c.5026G>A; p.V1676I; 9:136503323-136503323

c.4721T>C; p.L1574P; 9:136504970-136504970

c.7606G>A; p.V2536I; 9:136496133-136496133

c.1285T>A; p.C429S; 9:136517908-136517908

c.4721T>C; p.L1574P; 9:136504970-136504970

c.4721T>C; p.L1574P; 9:136504970-136504970

c.4796T>G; p.V1599G; 9:136504895-136504895

c.6684C>A; p.S2228S; 9:136497055-136497055

c.931A>C; p.T311P; 9:136518759-136518759

c.931A>C; p.T311P; 9:136518759-136518759

c.931A>C; p.T311P; 9:136518759-136518759

c.931A>C; p.T311P; 9:136518759-136518759

c.931A>C; p.T311P; 9:136518759-136518759

c.931A>C; p.T311P; 9:136518759-136518759

c.931A>C; p.T311P; 9:136518759-136518759

c.5853C>T; p.S1951S; 9:136500633-136500633

c.931A>C; p.T311P; 9:136518759-136518759

c.4639C>T; p.Q1547*; 9:136505052-136505052

c.4639C>T; p.Q1547*; 9:136505052-136505052

c.931A>C; p.T311P; 9:136518759-136518759

c.931A>C; p.T311P; 9:136518759-136518759

c.6732C>T; p.I2244I; 9:136497007-136497007

c.931A>C; p.T311P; 9:136518759-136518759

c.843C>T; p.C281C; 9:136519465-136519465

c.931A>C; p.T311P; 9:136518759-136518759

c.931A>C; p.T311P; 9:136518759-136518759

c.931A>C; p.T311P; 9:136518759-136518759

c.1649delA; p.Y550fs*81; 9:136516001-136516001

c.931A>C; p.T311P; 9:136518759-136518759

c.7509G>T; p.Q2503H; 9:136496230-136496230

c.3644-1G>T; p.?; 9:136506974-136506974

c.931A>C; p.T311P; 9:136518759-136518759

c.931A>C; p.T311P; 9:136518759-136518759

c.931A>C; p.T311P; 9:136518759-136518759

c.5026_5027insGAATCG; p.I1675_V1676insGI; 9:136503322-136503323

c.2080G>T; p.E694*; 9:136514637-136514637

c.931A>C; p.T311P; 9:136518759-136518759

c.931A>C; p.T311P; 9:136518759-136518759

c.931A>C; p.T311P; 9:136518759-136518759

c.6784G>A; p.G2262S; 9:136496955-136496955

c.2080G>T; p.E694*; 9:136514637-136514637

c.931A>C; p.T311P; 9:136518759-136518759

c.931A>C; p.T311P; 9:136518759-136518759

c.931A>C; p.T311P; 9:136518759-136518759

c.931A>C; p.T311P; 9:136518759-136518759

c.6836C>T; p.A2279V; 9:136496903-136496903

c.3887G>T; p.R1296L; 9:136506730-136506730

c.6501C>T; p.A2167A; 9:136497238-136497238

c.7020_7021insCCCC; p.S2341fs*14; 9:136496718-136496719

c.6679C>T; p.P2227S; 9:136497060-136497060

c.3407G>T; p.G1136V; 9:136508058-136508058

c.6875G>A; p.G2292E; 9:136496864-136496864

c.574G>T; p.G192*; 9:136523018-136523018

c.1247G>T; p.C416F; 9:136518145-136518145

c.666C>A; p.C222*; 9:136522926-136522926

c.5784C>T; p.G1928G; 9:136500702-136500702

c.574G>T; p.G192*; 9:136523018-136523018

c.4451A>T; p.N1484I; 9:136505445-136505445

c.7349G>A; p.S2450N; 9:136496390-136496390

c.5167+1G>A; p.?; 9:136503181-136503181

c.4618T>C; p.F1540L; 9:136505073-136505073

c.7216C>T; p.Q2406*; 9:136496523-136496523

c.4618T>C; p.F1540L; 9:136505073-136505073

c.5396A>C; p.N1799T; 9:136502077-136502077

c.4855_4857TAC>GCTGCG; p.Y1619>AA; 9:136504834-136504836

c.3859C>T; p.R1287C; 9:136506758-136506758

c.1014C>G; p.D338E; 9:136518676-136518676

c.4818_4819insGACCCTTCC; p.F1606_K1607insDPS; 9:136504872-136504873

c.3859C>T; p.R1287C; 9:136506758-136506758

c.3626G>T; p.C1209F; 9:136507322-136507322

c.5098G>A; p.A1700T; 9:136503251-136503251

c.6181-2A>T; p.?; 9:136497560-136497560

c.6648G>A; p.P2216P; 9:136497091-136497091

c.4775T>G; p.F1592C; 9:136504916-136504916

c.4817_4818insTGTCGC; p.F1606_K1607insVA; 9:136504873-136504874

c.1981G>A; p.G661S; 9:136515323-136515323

c.2428G>A; p.V810I; 9:136513060-136513060

c.1010A>T; p.D337V; 9:136518680-136518680

c.4787T>A; p.L1596H; 9:136504904-136504904

c.403G>T; p.G135W; 9:136523717-136523717

c.7212G>A; p.Q2404Q; 9:136496527-136496527

c.4787T>A; p.L1596H; 9:136504904-136504904

c.4787T>A; p.L1596H; 9:136504904-136504904

c.5025C>T; p.I1675I; 9:136503324-136503324

c.7313_7314insCT; p.S2439fs*1; 9:136496425-136496426

c.7130C>T; p.P2377L; 9:136496609-136496609

c.7587C>T; p.V2529V; 9:136496152-136496152

c.7130C>T; p.P2377L; 9:136496609-136496609

c.5025C>T; p.I1675I; 9:136503324-136503324

c.5025C>T; p.I1675I; 9:136503324-136503324

c.5025C>T; p.I1675I; 9:136503324-136503324

c.5025C>T; p.I1675I; 9:136503324-136503324

c.4793G>C; p.R1598P; 9:136504898-136504898

c.4793G>C; p.R1598P; 9:136504898-136504898

c.4793G>C; p.R1598P; 9:136504898-136504898

c.4793G>C; p.R1598P; 9:136504898-136504898

c.4793G>C; p.R1598P; 9:136504898-136504898

c.4793G>C; p.R1598P; 9:136504898-136504898

c.5162T>A; p.V1721E; 9:136503187-136503187

c.4793G>C; p.R1598P; 9:136504898-136504898

c.7295_7296insTGCCC; p.F2433fs*4; 9:136496443-136496444

c.4793G>C; p.R1598P; 9:136504898-136504898

c.4793G>C; p.R1598P; 9:136504898-136504898

c.7475_7476insCTAACC; p.S2492_P2493ins*; 9:136496263-136496264

c.1058G>A; p.R353H; 9:136518632-136518632

c.4793G>C; p.R1598P; 9:136504898-136504898

c.4793G>C; p.R1598P; 9:136504898-136504898

c.4738_4740delATG; p.M1580delM; 9:136504951-136504953

c.5162T>A; p.V1721E; 9:136503187-136503187

c.4793G>C; p.R1598P; 9:136504898-136504898

c.4793G>C; p.R1598P; 9:136504898-136504898

c.4793G>C; p.R1598P; 9:136504898-136504898

c.388C>T; p.P130S; 9:136523732-136523732

c.4126G>A; p.G1376S; 9:136505770-136505770

c.4793G>C; p.R1598P; 9:136504898-136504898

c.4793G>C; p.R1598P; 9:136504898-136504898

c.4793G>C; p.R1598P; 9:136504898-136504898

c.4793G>C; p.R1598P; 9:136504898-136504898

c.4793G>C; p.R1598P; 9:136504898-136504898

c.4793G>C; p.R1598P; 9:136504898-136504898

c.4793G>C; p.R1598P; 9:136504898-136504898

c.4549G>A; p.D1517N; 9:136505347-136505347

c.4793G>C; p.R1598P; 9:136504898-136504898

c.4793G>C; p.R1598P; 9:136504898-136504898

c.4738_4740delATG; p.M1580delM; 9:136504951-136504953

c.4549G>A; p.D1517N; 9:136505347-136505347

c.4793G>C; p.R1598P; 9:136504898-136504898

c.4793G>C; p.R1598P; 9:136504898-136504898

c.4793G>C; p.R1598P; 9:136504898-136504898

c.4731_4732insGCG; p.V1577_V1578insA; 9:136504959-136504960

c.5162T>A; p.V1721E; 9:136503187-136503187

c.4793G>C; p.R1598P; 9:136504898-136504898

c.4793G>C; p.R1598P; 9:136504898-136504898

c.4793G>C; p.R1598P; 9:136504898-136504898

c.4793G>C; p.R1598P; 9:136504898-136504898

c.4793G>C; p.R1598P; 9:136504898-136504898

c.4750_4751ins24; p.E1583_Q1584insPVELMPPE; 9:136504940-136504941

c.6284G>A; p.R2095H; 9:136497455-136497455

c.4819A>13; p.K1607>GPPLQ; 9:136504872-136504872

c.7516G>A; p.E2506K; 9:136496223-136496223

c.931_932insC; p.C312fs*19; 9:136518758-136518759

c.1171C>T; p.P391S; 9:136518221-136518221

c.6181-1G>A; p.?; 9:136497559-136497559

c.4732_4734delGTG; p.V1578delV; 9:136504957-136504959

c.4732_4734delGTG; p.V1578delV; 9:136504957-136504959

c.7399_7400insGG; p.S2467fs*11; 9:136496339-136496340

c.4732_4734delGTG; p.V1578delV; 9:136504957-136504959

c.4732_4734delGTG; p.V1578delV; 9:136504957-136504959

c.4732_4734delGTG; p.V1578delV; 9:136504957-136504959

c.4730T>A; p.V1577E; 9:136504964-136504964

c.4732_4734delGTG; p.V1578delV; 9:136504957-136504959

c.2631G>A; p.P877P; 9:136510762-136510762

c.4732_4734delGTG; p.V1578delV; 9:136504957-136504959

c.4732_4734delGTG; p.V1578delV; 9:136504957-136504959

c.4732_4734delGTG; p.V1578delV; 9:136504957-136504959

c.6392delG; p.G2131fs*117; 9:136497347-136497347

c.4730T>A; p.V1577E; 9:136504964-136504964

c.4732_4734delGTG; p.V1578delV; 9:136504957-136504959

c.7399_7400insGG; p.S2467fs*11; 9:136496339-136496340

c.4732_4734delGTG; p.V1578delV; 9:136504957-136504959

c.4732_4734delGTG; p.V1578delV; 9:136504957-136504959

c.4732_4734delGTG; p.V1578delV; 9:136504957-136504959

c.4732_4734delGTG; p.V1578delV; 9:136504957-136504959

c.4732_4734delGTG; p.V1578delV; 9:136504957-136504959

c.7356G>T; p.A2452A; 9:136496383-136496383

c.4732_4734delGTG; p.V1578delV; 9:136504957-136504959

c.5163G>T; p.V1721V; 9:136503186-136503186

c.7562C>T; p.S2521F; 9:136496177-136496177

c.7507C>T; p.Q2503*; 9:136496232-136496232

c.7507C>T; p.Q2503*; 9:136496232-136496232

c.7328_7330TGC>GGTTTTG; p.V2443fs*3; 9:136496409-136496411

c.7507C>T; p.Q2503*; 9:136496232-136496232

c.2862C>A; p.C954*; 9:136509840-136509840

c.7507C>T; p.Q2503*; 9:136496232-136496232

c.6605C>T; p.S2202F; 9:136497134-136497134

c.7507C>T; p.Q2503*; 9:136496232-136496232

c.2353G>A; p.G785S; 9:136513392-136513392

c.7507C>T; p.Q2503*; 9:136496232-136496232

c.1077C>T; p.C359C; 9:136518613-136518613

c.6733G>A; p.G2245R; 9:136497006-136497006

c.3939C>T; p.G1313G; 9:136506602-136506602

c.7313_7314insCCGCT; p.S2439fs*2; 9:136496425-136496426

c.5401delT; p.S1801fs*86; 9:136502072-136502072

c.4867G>T; p.E1623*; 9:136504824-136504824

c.7507C>T; p.Q2503*; 9:136496232-136496232

c.7169T>A; p.L2390*; 9:136496570-136496570

c.7507C>T; p.Q2503*; 9:136496232-136496232

c.580A>C; p.T194P; 9:136523012-136523012

c.580A>C; p.T194P; 9:136523012-136523012

c.580A>C; p.T194P; 9:136523012-136523012

c.2961C>A; p.C987*; 9:136509741-136509741

c.6209G>A; p.R2070Q; 9:136497530-136497530

c.130_136delGAGGCCT; p.E44fs*54; 9:136544028-136544034

c.580A>C; p.T194P; 9:136523012-136523012

c.580A>C; p.T194P; 9:136523012-136523012

c.7364_7365ins11; p.T2455fs; 9:136496374-136496375

c.580A>C; p.T194P; 9:136523012-136523012

c.580A>C; p.T194P; 9:136523012-136523012

c.5018+1G>A; p.?; 9:136504672-136504672

c.580A>C; p.T194P; 9:136523012-136523012

c.580A>C; p.T194P; 9:136523012-136523012

c.580A>C; p.T194P; 9:136523012-136523012

c.580A>C; p.T194P; 9:136523012-136523012

c.580A>C; p.T194P; 9:136523012-136523012

c.580A>C; p.T194P; 9:136523012-136523012

c.580A>C; p.T194P; 9:136523012-136523012

c.580A>C; p.T194P; 9:136523012-136523012

c.580A>C; p.T194P; 9:136523012-136523012

c.1363G>A; p.E455K; 9:136517830-136517830

c.5777G>A; p.R1926H; 9:136500709-136500709

c.580A>C; p.T194P; 9:136523012-136523012

c.5024_5025insCCGCTTTCC; p.I1675_V1676insRFP; 9:136503324-136503325

c.580A>C; p.T194P; 9:136523012-136523012

c.580A>C; p.T194P; 9:136523012-136523012

c.580A>C; p.T194P; 9:136523012-136523012

c.580A>C; p.T194P; 9:136523012-136523012

c.580A>C; p.T194P; 9:136523012-136523012

c.580A>C; p.T194P; 9:136523012-136523012

c.580A>C; p.T194P; 9:136523012-136523012

c.4587C>T; p.N1529N; 9:136505104-136505104

c.868C>T; p.Q290*; 9:136518822-136518822

c.3836G>A; p.R1279H; 9:136506781-136506781

c.1222G>A; p.A408T; 9:136518170-136518170

c.1027_1028insC; p.C344fs*9; 9:136518662-136518663

c.7375delC; p.Q2459fs*18; 9:136496364-136496364

c.4363C>T; p.Q1455*; 9:136505533-136505533

c.4649A>C; p.N1550T; 9:136505042-136505042

c.868C>T; p.Q290*; 9:136518822-136518822

c.1151_1174del24; p.G384_P391delGSNCDTNP; 9:136518218-136518241

c.7254delC; p.G2420fs*2; 9:136496485-136496485

c.1239G>A; p.V413V; 9:136518153-136518153

c.4817_4818ins15; p.F1606>LPRNED; 9:136504873-136504874

c.1373C>T; p.S458L; 9:136517820-136517820

c.4817_4818ins15; p.F1606>LPRNED; 9:136504873-136504874

c.1157A>C; p.N386T; 9:136518235-136518235

c.4900G>T; p.A1634S; 9:136504791-136504791

c.6645delG; p.P2216fs*32; 9:136497094-136497094

c.4727T>C; p.V1576A; 9:136504964-136504964

c.2045G>T; p.C682F; 9:136514672-136514672

c.4571C>T; p.A1524V; 9:136505325-136505325

c.326A>C; p.N109T; 9:136523794-136523794

c.1301G>A; p.G434D; 9:136517892-136517892

c.7399_7400ins5; p.S2467fs; 9:136496339-136496340

c.4720_4722delCTG; p.L1574del; 9:136504969-136504971

c.1169A>G; p.N390S; 9:136518223-136518223

c.3245G>A; p.R1082H; 9:136508312-136508312

c.4817_4818insAGGAGG; p.F1606>LGG; 9:136504873-136504874

c.1169A>G; p.N390S; 9:136518223-136518223

c.4817_4818ins12; p.F1606>LNPLS; 9:136504873-136504874

c.6431_6443del13; p.G2144fs*100; 9:136497296-136497308

c.3271G>A; p.G1091S; 9:136508286-136508286

c.4721T>C; p.L1574P; 9:136504970-136504970

c.4721T>C; p.L1574P; 9:136504970-136504970

c.7183C>T; p.Q2395*; 9:136496556-136496556

c.4721T>C; p.L1574P; 9:136504970-136504970

c.4721T>C; p.L1574P; 9:136504970-136504970

c.4721T>C; p.L1574P; 9:136504970-136504970

c.4721T>C; p.L1574P; 9:136504970-136504970

c.3271G>A; p.G1091S; 9:136508286-136508286

c.4721T>C; p.L1574P; 9:136504970-136504970

c.4721T>C; p.L1574P; 9:136504970-136504970

c.4721T>C; p.L1574P; 9:136504970-136504970

c.4721T>C; p.L1574P; 9:136504970-136504970

c.7183C>T; p.Q2395*; 9:136496556-136496556

c.7586_7587insT; p.S2530fs*>27; 9:136496152-136496153

c.4721T>C; p.L1574P; 9:136504970-136504970

c.4721T>C; p.L1574P; 9:136504970-136504970

c.4721T>C; p.L1574P; 9:136504970-136504970

c.6773T>A; p.L2258Q; 9:136496966-136496966

c.4721T>C; p.L1574P; 9:136504970-136504970

c.4966G>A; p.G1656S; 9:136504725-136504725

c.4721T>C; p.L1574P; 9:136504970-136504970

c.4721T>C; p.L1574P; 9:136504970-136504970

c.7455delC; p.S2486fs*>70; 9:136496284-136496284

c.6545A>G; p.K2182R; 9:136497194-136497194

c.4721T>C; p.L1574P; 9:136504970-136504970

c.5308_5309CC>TT; p.P1770F; 9:136502347-136502348

c.4721T>C; p.L1574P; 9:136504970-136504970

c.4721T>C; p.L1574P; 9:136504970-136504970

c.4721T>C; p.L1574P; 9:136504970-136504970

c.4721T>C; p.L1574P; 9:136504970-136504970

c.2631G>T; p.P877P; 9:136510762-136510762

c.4721T>C; p.L1574P; 9:136504970-136504970

c.6988_6992GTGGC>AGG; p.V2330fs*23; 9:136496747-136496751

c.4721T>C; p.L1574P; 9:136504970-136504970

c.4721T>C; p.L1574P; 9:136504970-136504970

c.4775_4776insTAAGGAGGA; p.F1592_L1593insKED; 9:136504915-136504916

c.4721T>C; p.L1574P; 9:136504970-136504970

c.4721T>C; p.L1574P; 9:136504970-136504970

c.7431delC; p.A2478fs*5; 9:136496308-136496308

c.4721T>C; p.L1574P; 9:136504970-136504970

c.4721T>C; p.L1574P; 9:136504970-136504970

c.4721T>C; p.L1574P; 9:136504970-136504970

c.2069G>T; p.G690V; 9:136514648-136514648

c.4770_4775CCACTT>TCC; p.H1591_F1592>P; 9:136504916-136504921

c.5445C>T; p.D1815D; 9:136502028-136502028

c.4754T>A; p.L1585Q; 9:136504937-136504937

c.4754T>A; p.L1585Q; 9:136504937-136504937

c.2468-1G>A; p.?; 9:136511272-136511272

c.5646C>T; p.F1882F; 9:136500840-136500840

c.398G>A; p.W133*; 9:136523722-136523722

c.2860T>C; p.C954R; 9:136509842-136509842

c.4754T>A; p.L1585Q; 9:136504937-136504937

c.7386_7387CG>T; p.A2463fs*14; 9:136496352-136496353

c.5696A>T; p.N1899I; 9:136500790-136500790

c.3494G>A; p.G1165D; 9:136507971-136507971

c.7260_7261ins17; p.G2420fs; 9:136496478-136496479

c.4775_4776insGGGAGC; p.F1592>LGA; 9:136504915-136504916

c.7401_7402insGG; p.L2468fs*10; 9:136496337-136496338

c.62G>T; p.G21V; 9:136544102-136544102

c.7589_7590insGCGG; p.D2531fs*>27; 9:136496149-136496150

c.1315C>T; p.Q439*; 9:136517878-136517878

c.5639-2A>G; p.?; 9:136500849-136500849

c.5639-2A>G; p.?; 9:136500849-136500849

c.7398_7399insGG; p.S2467fs*11; 9:136496340-136496341

c.7330C>T; p.Q2444*; 9:136496409-136496409

c.7330C>T; p.Q2444*; 9:136496409-136496409

c.7330C>T; p.Q2444*; 9:136496409-136496409

c.4815_4818delCTTC; p.F1606fs*9; 9:136504873-136504876

c.1451G>T; p.G484V; 9:136517376-136517376

c.578G>C; p.G193A; 9:136523014-136523014

c.578G>C; p.G193A; 9:136523014-136523014

c.578G>C; p.G193A; 9:136523014-136523014

c.7448C>T; p.T2483M; 9:136496291-136496291

c.4102C>T; p.R1368C; 9:136505794-136505794

c.6476G>A; p.R2159H; 9:136497263-136497263

c.578G>C; p.G193A; 9:136523014-136523014

c.578G>C; p.G193A; 9:136523014-136523014

c.5819G>A; p.R1940H; 9:136500667-136500667

c.1451G>T; p.G484V; 9:136517376-136517376

c.578G>C; p.G193A; 9:136523014-136523014

c.578G>C; p.G193A; 9:136523014-136523014

c.7448C>T; p.T2483M; 9:136496291-136496291

c.578G>C; p.G193A; 9:136523014-136523014

c.4788C>G; p.L1596L; 9:136504903-136504903

c.1451G>T; p.G484V; 9:136517376-136517376

c.3777C>T; p.F1259F; 9:136506840-136506840

c.7530C>T; p.L2510L; 9:136496209-136496209

c.7448C>T; p.T2483M; 9:136496291-136496291

c.1510C>T; p.R504C; 9:136517317-136517317

c.2047G>A; p.A683T; 9:136514670-136514670

c.5373C>T; p.S1791S; 9:136502283-136502283

c.4527C>A; p.C1509*; 9:136505369-136505369

c.4849_4851delTTC; p.F1617delF; 9:136504840-136504842

c.423T>C; p.A141A; 9:136523169-136523169

c.4849_4851delTTC; p.F1617delF; 9:136504840-136504842

c.1266C>A; p.P422P; 9:136517927-136517927

c.4849_4851delTTC; p.F1617delF; 9:136504840-136504842

c.4179C>T; p.G1393G; 9:136505717-136505717

c.4775_4776insGGGCCA; p.F1592>LGH; 9:136504915-136504916

c.6055G>C; p.A2019P; 9:136499139-136499139

c.4008C>A; p.C1336*; 9:136506533-136506533

c.3374C>T; p.A1125V; 9:136508091-136508091

c.4962delT; p.G1655fs*143; 9:136504729-136504729

c.4730T>A; p.V1577E; 9:136504961-136504961

c.3295G>A; p.V1099M; 9:136508262-136508262

c.7568C>T; p.S2523L; 9:136496171-136496171

c.1762A>C; p.T588P; 9:136515624-136515624

c.1762A>C; p.T588P; 9:136515624-136515624

c.839A>G; p.N280S; 9:136519469-136519469

c.1762A>C; p.T588P; 9:136515624-136515624

c.4730T>A; p.V1577E; 9:136504961-136504961

c.1762A>C; p.T588P; 9:136515624-136515624

c.6943C>A; p.Q2315K; 9:136496796-136496796

c.975C>T; p.N325N; 9:136518715-136518715

c.4817_4818insGGGGAC; p.F1606>LGT; 9:136504873-136504874

c.5281C>T; p.R1761W; 9:136502375-136502375

c.1762A>C; p.T588P; 9:136515624-136515624

c.1762A>C; p.T588P; 9:136515624-136515624

c.3374C>T; p.A1125V; 9:136508091-136508091

c.4906_4924del19; p.E1636fs*7; 9:136504767-136504785

c.4978_5012del35; p.G1660fs*10; 9:136504679-136504713

c.4781_4782ins36; p.R1594_E1595ins12; 9:136504909-136504910

c.4988G>T; p.R1663L; 9:136504703-136504703

c.4781_4782ins36; p.R1594_E1595ins12; 9:136504909-136504910

c.7398_7399ins14; p.S2467fs*15; 9:136496340-136496341

c.7396A>G; p.T2466A; 9:136496343-136496343

c.203G>A; p.C68Y; 9:136523917-136523917

c.4901C>T; p.A1634V; 9:136504790-136504790

c.4817_4818ins9; p.F1606>LGEN; 9:136504873-136504874

c.6943C>T; p.Q2315*; 9:136496796-136496796

c.4792_4793insAAA; p.R1598>QS; 9:136504898-136504899

c.4781_4782ins36; p.R1594_E1595ins12; 9:136504909-136504910

c.6937C>G; p.R2313G; 9:136496802-136496802

c.2388G>A; p.A796A; 9:136513100-136513100

c.5185C>T; p.P1729S; 9:136502471-136502471

c.1130delT; p.I377fs*254; 9:136518262-136518262

c.5837G>A; p.R1946H; 9:136500649-136500649

c.5837G>A; p.R1946H; 9:136500649-136500649

c.5011G>A; p.V1671I; 9:136504680-136504680

c.7021_7022ins17; p.S2341fs*1; 9:136496717-136496718

c.368C>T; p.T123M; 9:136523752-136523752

c.7314G>A; p.P2438P; 9:136496425-136496425

c.976G>A; p.G326S; 9:136518714-136518714

c.5011G>A; p.V1671I; 9:136504680-136504680

c.5011G>A; p.V1671I; 9:136504680-136504680

c.5011G>A; p.V1671I; 9:136504680-136504680

c.4827_4828insCCCCAACCT; p.D1609_A1610insPQP; 9:136504863-136504864

c.2155G>T; p.E719*; 9:136514562-136514562

c.6271G>T; p.D2091Y; 9:136497468-136497468

c.2099delT; p.F700fs*72; 9:136514618-136514618

c.5195C>T; p.A1732V; 9:136502461-136502461

c.6541_6875del335; p.K2181fs*61; 9:136496864-136497198

c.7398delG; p.S2467fs*10; 9:136496341-136496341

c.4910G>T; p.G1637V; 9:136504781-136504781

c.7026G>T; p.L2342L; 9:136496713-136496713

c.7177C>T; p.Q2393*; 9:136496562-136496562

c.4850_4851insTGAACCCCC; p.F1617_P1618insEPP; 9:136504840-136504841

c.1433G>T; p.C478F; 9:136517760-136517760

c.1433G>T; p.C478F; 9:136517760-136517760

c.3348C>T; p.C1116C; 9:136508117-136508117

c.5884C>A; p.R1962S; 9:136500602-136500602

c.743-6C>T; p.?; 9:136519571-136519571

c.5035G>T; p.E1679*; 9:136503314-136503314

c.4781_4782ins36; p.R1594_E1595ins12; 9:136504909-136504910

c.5885G>A; p.R1962H; 9:136500601-136500601

c.7177C>T; p.Q2393*; 9:136496562-136496562

c.1433G>T; p.C478F; 9:136517760-136517760

c.5035G>T; p.E1679*; 9:136503314-136503314

c.1854C>G; p.C618W; 9:136515532-136515532

c.7519_7520insC; p.H2507fs*9; 9:136496219-136496220

c.6980_6981insA; p.S2329fs*25; 9:136496758-136496759

c.1255+1G>A; p.?; 9:136518136-136518136

c.4640A>G; p.Q1547R; 9:136505051-136505051

c.7413_7414insAA; p.L2472fs*6; 9:136496325-136496326

c.4788_4789insGGA; p.L1596_S1597insG; 9:136504902-136504903

c.6494G>T; p.G2165V; 9:136497245-136497245

c.4932G>A; p.L1644L; 9:136504759-136504759

c.4741_4746delCCGCCG; p.P1581_P1582delPP; 9:136504945-136504950

c.7375C>T; p.Q2459*; 9:136496364-136496364

c.7326_7327insTGCCCAGC; p.V2443fs*37; 9:136496412-136496413

c.7375C>T; p.Q2459*; 9:136496364-136496364

c.403+1G>A; p.?; 9:136523716-136523716

c.6022G>T; p.E2008*; 9:136499172-136499172

c.6022G>T; p.E2008*; 9:136499172-136499172

c.7375C>T; p.Q2459*; 9:136496364-136496364

c.730G>T; p.A244S; 9:136522862-136522862

c.7280G>A; p.G2427D; 9:136496459-136496459

c.7375C>T; p.Q2459*; 9:136496364-136496364

c.7375C>T; p.Q2459*; 9:136496364-136496364

c.7375C>T; p.Q2459*; 9:136496364-136496364

c.6976_6987>21; p.L2326_S2329>FPSA*; 9:136496752-136496763

c.7021_7022insC; p.L2342fs*12; 9:136496717-136496718

c.7375C>T; p.Q2459*; 9:136496364-136496364

c.7375C>T; p.Q2459*; 9:136496364-136496364

c.7375C>T; p.Q2459*; 9:136496364-136496364

c.7375C>T; p.Q2459*; 9:136496364-136496364

c.7323_7341del19; p.D2442fs*29; 9:136496398-136496416

c.5759T>C; p.L1920P; 9:136500727-136500727

c.5099C>T; p.A1700V; 9:136503250-136503250

c.1662C>A; p.C554*; 9:136515988-136515988

c.6273T>C; p.D2091D; 9:136497466-136497466

c.7244_7246delCAC; p.P2415delP; 9:136496493-136496495

c.4194C>A; p.Y1398*; 9:136505702-136505702

c.6632C>G; p.S2211*; 9:136497107-136497107

c.4194C>A; p.Y1398*; 9:136505702-136505702

c.1367G>A; p.C456Y; 9:136517826-136517826

c.1913G>T; p.C638F; 9:136515391-136515391

c.1441G>C; p.G481R; 9:136517752-136517752

c.334C>T; p.R112C; 9:136523786-136523786

c.7244_7246delCAC; p.P2415delP; 9:136496493-136496495

c.1039G>T; p.G347C; 9:136518651-136518651

c.4846A>G; p.I1616V; 9:136504845-136504845

c.4424A>G; p.D1475G; 9:136505472-136505472

c.4299G>T; p.G1433G; 9:136505597-136505597

c.7419_7420insTGGTC; p.P2474fs*5; 9:136496319-136496320

c.7312_7313insGGGTT; p.P2438fs*41; 9:136496426-136496427

c.4793_4794GC>CT; p.R1598P; 9:136504897-136504898

c.365T>G; p.L122R; 9:136523755-136523755

c.4833C>T; p.H1611H; 9:136504858-136504858

c.7247_7248insCAC; p.Q2416>HT; 9:136496491-136496492

c.4833C>T; p.H1611H; 9:136504858-136504858

c.3567C>T; p.S1189S; 9:136507381-136507381

c.5221_5222ins33; p.A1740_A1741ins11; 9:136502434-136502435

c.4776delC; p.L1593fs*23; 9:136504915-136504915

c.6088T>C; p.S2030P; 9:136498991-136498991

c.7327delG; p.V2443fs*34; 9:136496412-136496412

c.6000C>T; p.I2000I; 9:136499194-136499194

c.4718C>T; p.T1573M; 9:136504973-136504973

c.1348G>A; p.E450K; 9:136517845-136517845

c.1348G>A; p.E450K; 9:136517845-136517845

c.6549C>A; p.S2183S; 9:136497190-136497190

c.5124G>A; p.S1708S; 9:136503225-136503225

c.1348G>A; p.E450K; 9:136517845-136517845

c.1348G>A; p.E450K; 9:136517845-136517845

c.1748G>A; p.G583D; 9:136515638-136515638

c.1348G>A; p.E450K; 9:136517845-136517845

c.4811T>G; p.V1604G; 9:136504880-136504880

c.7479T>G; p.P2493P; 9:136496260-136496260

c.5608G>A; p.D1870N; 9:136501778-136501778

c.7341_7342ins50; p.P2448fs*4; 9:136496397-136496398

c.538A>G; p.N180D; 9:136523054-136523054

c.4611G>A; p.K1537K; 9:136505080-136505080

c.7371delG; p.Q2459fs*18; 9:136496368-136496368

c.4776C>GGAGGGA; p.F1592>LEG; 9:136504915-136504915

c.3564C>T; p.L1188L; 9:136507384-136507384

c.538A>G; p.N180D; 9:136523054-136523054

c.1203C>T; p.P401P; 9:136518189-136518189

c.4818_4819ins45; p.F1606_K1607ins15; 9:136504872-136504873

c.1333A>G; p.T445A; 9:136517860-136517860

c.2584C>T; p.Q862*; 9:136511155-136511155

c.4799T>C; p.L1600P; 9:136504892-136504892

c.5226C>T; p.A1742A; 9:136502430-136502430

c.3749G>A; p.G1250D; 9:136506868-136506868

c.4799T>C; p.L1600P; 9:136504892-136504892

c.7291_7292insCT; p.R2431fs*5; 9:136496447-136496448

c.1030_1031insC; p.C344fs*9; 9:136518659-136518660

c.4799T>C; p.L1600P; 9:136504892-136504892

c.4799T>C; p.L1600P; 9:136504892-136504892

c.4799T>C; p.L1600P; 9:136504892-136504892

c.4799T>C; p.L1600P; 9:136504892-136504892

c.5226C>T; p.A1742A; 9:136502430-136502430

c.4799T>C; p.L1600P; 9:136504892-136504892

c.4799T>C; p.L1600P; 9:136504892-136504892

c.4799T>C; p.L1600P; 9:136504892-136504892

c.4799T>C; p.L1600P; 9:136504892-136504892

c.4457C>T; p.P1486L; 9:136505439-136505439

c.3945C>T; p.P1315P; 9:136506596-136506596

c.5218_5219ins42; p.V1739_A1740ins14; 9:136502437-136502438

c.4768_4769insCCA; p.F1590>SI; 9:136504922-136504923

c.5720C>T; p.P1907L; 9:136500766-136500766

c.432C>T; p.C144C; 9:136523160-136523160

c.2744C>T; p.P915L; 9:136509958-136509958

c.2744C>T; p.P915L; 9:136509958-136509958

c.7475_7476ins12; p.P2493_V2494ins*; 9:136496263-136496264

c.6981G>A; p.R2327R; 9:136496758-136496758

c.2744C>T; p.P915L; 9:136509958-136509958

c.7192C>T; p.Q2398*; 9:136496547-136496547

c.6693C>G; p.L2231L; 9:136497046-136497046

c.7229_7230insCC; p.P2411fs*12; 9:136496509-136496510

c.4781G>A; p.R1594Q; 9:136504910-136504910

c.5554G>A; p.D1852N; 9:136501832-136501832

c.7373_7374ins37; p.Q2459fs*60; 9:136496365-136496366

c.3582C>T; p.N1194N; 9:136507366-136507366

c.1430T>C; p.I477T; 9:136517763-136517763

c.7055G>A; p.S2352N; 9:136496684-136496684

c.1555+3delG; p.?; 9:136517269-136517269

c.1800C>T; p.C600C; 9:136515586-136515586

c.3623C>T; p.S1208F; 9:136507325-136507325

c.3174_3175CC>TT; p.L1059F; 9:136508382-136508383

c.2134A>C; p.T712P; 9:136514583-136514583

c.7444delC; p.L2482fs*1; 9:136496295-136496295

c.7444delC; p.L2482fs*1; 9:136496295-136496295

c.7444delC; p.L2482fs*1; 9:136496295-136496295

c.7444delC; p.L2482fs*1; 9:136496295-136496295

c.6121G>T; p.V2041L; 9:136498958-136498958

c.4818_4819insGGTTCC; p.F1606_K1607insGS; 9:136504872-136504873

c.4751_4752ins24; p.Q1584>HRGADAAGA; 9:136504939-136504940

c.7518_7537>TCTCCTACC; p.E2506fs*6; 9:136496202-136496221

c.2207+2_2207+3insT; p.?; 9:136514507-136514508

c.4574A>G; p.E1525G; 9:136505322-136505322

c.4751_4752ins24; p.Q1584>HRGADAAGA; 9:136504939-136504940

c.2929G>T; p.G977W; 9:136509773-136509773

c.4818_4819CA>GGGGTCAC; p.F1606_K1607>LGSQ; 9:136504872-136504873

c.5351G>T; p.R1784L; 9:136502305-136502305

c.4373C>A; p.A1458E; 9:136505523-136505523

c.5105T>C; p.F1702S; 9:136503244-136503244

c.6944A>G; p.Q2315R; 9:136496795-136496795

c.7258_7259insCC; p.G2420fs*3; 9:136496480-136496481

c.7393_7394insAT; p.P2465fs*13; 9:136496345-136496346

c.7002_7004CCT>ATGGTCC; p.L2335fs*20; 9:136496735-136496737

c.5691G>A; p.T1897T; 9:136500795-136500795

c.607C>T; p.R203C; 9:136522985-136522985

c.7250C>T; p.P2417L; 9:136496489-136496489

c.5732C>T; p.S1911F; 9:136500754-136500754

c.6571C>T; p.L2191L; 9:136497168-136497168

c.4818C>ACCCCTG; p.F1606>LPL; 9:136504873-136504873

c.5105T>C; p.F1702S; 9:136503244-136503244

c.5973C>T; p.R1991R; 9:136499221-136499221

c.5421C>T; p.D1807D; 9:136502052-136502052

c.5161G>A; p.V1721M; 9:136503188-136503188

c.5161G>A; p.V1721M; 9:136503188-136503188

c.6475C>T; p.R2159C; 9:136497264-136497264

c.5161G>A; p.V1721M; 9:136503188-136503188

c.5161G>A; p.V1721M; 9:136503188-136503188

c.7410delC; p.S2471fs*6; 9:136496329-136496329

c.5161G>A; p.V1721M; 9:136503188-136503188

c.5161G>A; p.V1721M; 9:136503188-136503188

c.4745_4746ins9; p.P1582_E1583insPHT; 9:136504945-136504946

c.7459C>T; p.Q2487*; 9:136496280-136496280

c.7459C>T; p.Q2487*; 9:136496280-136496280

c.7470_7471insNN; p.S2491fs*>66; 9:136496268-136496269

c.5805C>G; p.A1935A; 9:136500681-136500681

c.4818_4842del25; p.F1606fs*2; 9:136504849-136504873

c.2507G>A; p.S836N; 9:136511232-136511232

c.4180G>C; p.G1394R; 9:136505716-136505716

c.6871G>A; p.G2291R; 9:136496868-136496868

c.3145C>T; p.Q1049*; 9:136508896-136508896

c.7477_7478ins11; p.P2493fs*>67; 9:136496261-136496262

c.7578T>A; p.H2526Q; 9:136496161-136496161

c.2588G>T; p.G863V; 9:136510805-136510805

c.2327T>G; p.V776G; 9:136513418-136513418

c.2868C>T; p.N956N; 9:136509834-136509834

c.7410_7411insGCCGG; p.S2471fs*8; 9:136496328-136496329

c.6821_6822insT; p.H2275fs*79; 9:136496917-136496918

c.4739_4740TG>CCCCATCCAGGTTCGTCCCC; p.M1580>TPSRFVP; 9:136504951-136504952

c.4802A>T; p.H1601L; 9:136504889-136504889

c.6556G>A; p.G2186S; 9:136497183-136497183

c.4849_4850TT>CC; p.F1617P; 9:136504841-136504842

c.7526T>C; p.F2509S; 9:136496213-136496213

c.7313_7314insAGG; p.P2438_S2439insG; 9:136496425-136496426

c.5272C>A; p.R1758S; 9:136502384-136502384

c.6636C>T; p.D2212D; 9:136497103-136497103

c.7417_7418insGG; p.V2473fs*5; 9:136496321-136496322

c.5934+2T>C; p.?; 9:136500550-136500550

c.4778T>C; p.L1593P; 9:136504913-136504913

c.4778T>C; p.L1593P; 9:136504913-136504913

c.4233C>T; p.F1411F; 9:136505663-136505663

c.4778T>C; p.L1593P; 9:136504913-136504913

c.4817_4818ins12; p.F1606>LSMPP; 9:136504873-136504874

c.4778T>C; p.L1593P; 9:136504913-136504913

c.4778T>C; p.L1593P; 9:136504913-136504913

c.7180C>A; p.Q2394K; 9:136496559-136496559

c.4778T>C; p.L1593P; 9:136504913-136504913

c.7460A>T; p.Q2487L; 9:136496279-136496279

c.4778T>C; p.L1593P; 9:136504913-136504913

c.4778T>C; p.L1593P; 9:136504913-136504913

c.4778T>C; p.L1593P; 9:136504913-136504913

c.4778T>C; p.L1593P; 9:136504913-136504913

c.4775T>C; p.F1592S; 9:136504916-136504916

c.4778T>C; p.L1593P; 9:136504913-136504913

c.4778T>C; p.L1593P; 9:136504913-136504913

c.1775G>A; p.R592H; 9:136515611-136515611

c.4778T>C; p.L1593P; 9:136504913-136504913

c.4778T>C; p.L1593P; 9:136504913-136504913

c.4775T>C; p.F1592S; 9:136504916-136504916

c.4778T>C; p.L1593P; 9:136504913-136504913

c.4778T>C; p.L1593P; 9:136504913-136504913

c.4778T>C; p.L1593P; 9:136504913-136504913

c.4778T>C; p.L1593P; 9:136504913-136504913

c.4775T>C; p.F1592S; 9:136504916-136504916

c.4778T>C; p.L1593P; 9:136504913-136504913

c.4778T>C; p.L1593P; 9:136504913-136504913

c.4733T>G; p.V1578G; 9:136504958-136504958

c.4778T>C; p.L1593P; 9:136504913-136504913

c.4775T>C; p.F1592S; 9:136504916-136504916

c.4778T>C; p.L1593P; 9:136504913-136504913

c.4775T>C; p.F1592S; 9:136504916-136504916

c.4778T>C; p.L1593P; 9:136504913-136504913

c.4778T>C; p.L1593P; 9:136504913-136504913

c.4778T>C; p.L1593P; 9:136504913-136504913

c.4778T>C; p.L1593P; 9:136504913-136504913

c.7081C>T; p.Q2361*; 9:136496658-136496658

c.4778T>C; p.L1593P; 9:136504913-136504913

c.1775G>A; p.R592H; 9:136515611-136515611

c.4778T>C; p.L1593P; 9:136504913-136504913

c.4775T>C; p.F1592S; 9:136504916-136504916

c.4775T>C; p.F1592S; 9:136504916-136504916

c.4733T>G; p.V1578G; 9:136504958-136504958

c.4778T>C; p.L1593P; 9:136504913-136504913

c.4778T>C; p.L1593P; 9:136504913-136504913

c.5214C>T; p.Y1738Y; 9:136502442-136502442

c.1452T>A; p.G484G; 9:136517375-136517375

c.1295C>T; p.T432M; 9:136517898-136517898

c.4473G>A; p.T1491T; 9:136505423-136505423

c.5257G>T; p.G1753W; 9:136502399-136502399

c.7328_7331TGCA>GAAGTAGTG; p.V2443fs*36; 9:136496408-136496411

c.7548_7549ins13; p.P2517fs*6; 9:136496190-136496191

c.6066C>T; p.N2022N; 9:136499128-136499128

c.7344_7345ins14; p.S2449fs*33; 9:136496394-136496395

c.7261G>A; p.V2421M; 9:136496478-136496478

c.6322G>A; p.D2108N; 9:136497417-136497417

c.6322G>A; p.D2108N; 9:136497417-136497417

c.2718C>T; p.T906T; 9:136510675-136510675

c.711C>T; p.G237G; 9:136522881-136522881

c.4739T>C; p.M1580T; 9:136504952-136504952

c.2528A>G; p.E843G; 9:136511211-136511211

c.4044C>T; p.D1348D; 9:136505852-136505852

c.4818C>GGCTTTG; p.F1606>LAL; 9:136504873-136504873

c.7067C>T; p.A2356V; 9:136496672-136496672

c.7412C>A; p.S2471*; 9:136496327-136496327

c.3320G>A; p.R1107Q; 9:136508237-136508237

c.7412C>A; p.S2471*; 9:136496327-136496327

c.3320G>A; p.R1107Q; 9:136508237-136508237

c.5561G>A; p.R1854H; 9:136501825-136501825

c.2467+1G>A; p.?; 9:136513020-136513020

c.5561G>A; p.R1854H; 9:136501825-136501825

c.5859T>C; p.D1953D; 9:136500627-136500627

c.7418_7419insGG; p.P2474fs*4; 9:136496320-136496321

c.5218G>C; p.A1740P; 9:136502438-136502438

c.5352G>T; p.R1784R; 9:136502304-136502304

c.7321G>A; p.A2441T; 9:136496418-136496418

c.5039T>C; p.I1680T; 9:136503310-136503310

c.4915G>A; p.A1639T; 9:136504776-136504776

c.4915G>A; p.A1639T; 9:136504776-136504776

c.5580C>T; p.P1860P; 9:136501806-136501806

c.5551G>T; p.A1851S; 9:136501835-136501835

c.5567C>T; p.S1856F; 9:136501819-136501819

c.5039T>C; p.I1680T; 9:136503310-136503310

c.963C>T; p.C321C; 9:136518727-136518727

c.5951G>A; p.R1984Q; 9:136499243-136499243

c.5852G>A; p.S1951N; 9:136500634-136500634

c.1236C>T; p.D412D; 9:136518156-136518156

c.5087C>A; p.A1696D; 9:136503262-136503262

c.1237G>A; p.V413M; 9:136518155-136518155

c.5087C>A; p.A1696D; 9:136503262-136503262

c.7350_7356delCCTGGCG; p.S2450fs*25; 9:136496383-136496389

c.7475_7502>13; p.S2492_Q2501>FS*; 9:136496237-136496264

c.4673G>T; p.G1558V; 9:136505018-136505018

c.7311_7313GCC>AT; p.P2438fs*1; 9:136496426-136496428

c.5257G>A; p.G1753R; 9:136502399-136502399

c.1070_1072delTCT; p.F357delF; 9:136518618-136518620

c.1451G>A; p.G484D; 9:136517376-136517376

c.1070_1072delTCT; p.F357delF; 9:136518618-136518620

c.4777C>A; p.L1593M; 9:136504914-136504914

c.7397C>G; p.T2466R; 9:136496342-136496342

c.5218_5219ins45; p.A1740_A1741ins15; 9:136502437-136502438

c.1442G>T; p.G481V; 9:136517385-136517385

c.6034G>T; p.E2012*; 9:136499160-136499160

c.5257G>A; p.G1753R; 9:136502399-136502399

c.2660C>T; p.T887I; 9:136510733-136510733

c.5327C>G; p.S1776C; 9:136502329-136502329

c.5110G>T; p.G1704*; 9:136503239-136503239

c.5137A>C; p.N1713H; 9:136503212-136503212

c.4848_4848C>GGAA; p.I1616>ME; 9:136504843-136504843

c.1070_1072delTCT; p.F357delF; 9:136518618-136518620

c.4822C>A; p.R1608S; 9:136504869-136504869

c.6984_6985insG; p.S2329fs*25; 9:136496754-136496755

c.6984_6985insG; p.S2329fs*25; 9:136496754-136496755

c.6984_6985insG; p.S2329fs*25; 9:136496754-136496755

c.4768_4775delTTCCACTT; p.F1590fs*17; 9:136504916-136504923

c.4867G>A; p.E1623K; 9:136504824-136504824

c.7177_7178insAG; p.Q2394fs*29; 9:136496561-136496562

c.7260_7261insC; p.V2421fs*86; 9:136496478-136496479

c.4776_4777insTGG; p.F1592_L1593insW; 9:136504914-136504915

c.415C>T; p.Q139*; 9:136523177-136523177

c.6327C>T; p.I2109I; 9:136497412-136497412

c.5308C>T; p.P1770S; 9:136502348-136502348

c.4848delC; p.F1617fs*32; 9:136504843-136504843

c.5308C>T; p.P1770S; 9:136502348-136502348

c.1170C>G; p.N390K; 9:136518222-136518222

c.6321C>T; p.H2107H; 9:136497418-136497418

c.7538_7539insGAGCGTC; p.P2514fs*4; 9:136496200-136496201

c.4893C>T; p.I1631I; 9:136504798-136504798

c.1319G>C; p.C440S; 9:136517874-136517874

c.2583G>T; p.W861C; 9:136511156-136511156

c.7284C>G; p.H2428Q; 9:136496455-136496455

c.4948G>A; p.A1650T; 9:136504743-136504743

c.5697C>T; p.N1899N; 9:136500789-136500789

c.936C>A; p.C312*; 9:136518754-136518754

c.7327_7328ins14; p.V2443fs*39; 9:136496411-136496412

c.7231_7233delCCA; p.P2415delP; 9:136496506-136496508

c.4721T>A; p.L1574Q; 9:136504970-136504970

c.3880G>T; p.E1294*; 9:136506737-136506737

c.3587G>A; p.G1196D; 9:136507361-136507361

c.7231_7233delCCA; p.P2415delP; 9:136496506-136496508

c.4948G>A; p.A1650T; 9:136504743-136504743

c.2568C>G; p.V856V; 9:136511171-136511171

c.4728G>A; p.V1576V; 9:136504963-136504963

c.5242T>C; p.F1748L; 9:136502414-136502414

c.2459C>T; p.P820L; 9:136513029-136513029

c.7231_7233delCCA; p.P2415delP; 9:136496506-136496508

c.2377_2379delAAC; p.N793delN; 9:136513109-136513111

c.1300G>T; p.G434C; 9:136517893-136517893

c.5039T>A; p.I1680N; 9:136503310-136503310

c.5039T>A; p.I1680N; 9:136503310-136503310

c.4976G>A; p.G1659D; 9:136504715-136504715

c.5039T>A; p.I1680N; 9:136503310-136503310

c.2101A>C; p.T701P; 9:136514616-136514616

c.7475_7476insGAGGGAAG; p.P2493fs*>66; 9:136496263-136496264

c.5039T>A; p.I1680N; 9:136503310-136503310

c.2101A>C; p.T701P; 9:136514616-136514616

c.5039T>A; p.I1680N; 9:136503310-136503310

c.4757G>C; p.R1586P; 9:136504934-136504934

c.7519C>A; p.H2507N; 9:136496220-136496220

c.4976G>A; p.G1659D; 9:136504715-136504715

c.4757G>C; p.R1586P; 9:136504934-136504934

c.5039T>A; p.I1680N; 9:136503310-136503310

c.4839_4859>NNNNNNNNN; p.Q1613_Y1620>XXXX; 9:136504832-136504852

c.5115G>A; p.A1705A; 9:136503234-136503234

c.6993A>G; p.A2331A; 9:136496746-136496746

c.4775_4776insAAG; p.F1592>LS; 9:136504915-136504916

c.5078T>C; p.F1693S; 9:136503271-136503271

c.6420C>T; p.C2140C; 9:136497319-136497319

c.4802A>C; p.H1601P; 9:136504889-136504889

c.3813C>G; p.C1271W; 9:136506804-136506804

c.1461C>T; p.C487C; 9:136517366-136517366

c.1369G>A; p.V457I; 9:136517824-136517824

c.4775_4776insGGGTGC; p.F1592>LGA; 9:136504915-136504916

c.7555delC; p.Q2519fs*>37; 9:136496184-136496184

c.1455G>A; p.V485V; 9:136517372-136517372

c.162C>T; p.G54G; 9:136523958-136523958

c.4820_4821insG; p.R1608fs*2; 9:136504870-136504871

c.3813C>G; p.C1271W; 9:136506804-136506804

c.5939T>C; p.L1980P; 9:136499255-136499255

c.4897C>T; p.R1633C; 9:136504794-136504794

c.5752G>A; p.A1918T; 9:136500734-136500734

c.7138G>A; p.V2380M; 9:136496601-136496601

c.1400G>T; p.C467F; 9:136517793-136517793

c.4775_4776insGAGCCC; p.F1592>LSP; 9:136504915-136504916

c.4742C>A; p.P1581Q; 9:136504949-136504949

c.7210C>T; p.Q2404*; 9:136496529-136496529

c.4817_4818insGGA; p.F1606>LD; 9:136504873-136504874

c.7405C>T; p.P2469S; 9:136496334-136496334

c.7430_7431insTT; p.A2478fs*6; 9:136496308-136496309

c.7311_7312ins5; p.P2438fs; 9:136496427-136496428

c.453C>T; p.N151N; 9:136523139-136523139

c.7457C>A; p.S2486*; 9:136496282-136496282

c.3225G>A; p.W1075*; 9:136508332-136508332

c.7327_7328GT>AGGATAG; p.V2443fs*36; 9:136496411-136496412

c.5690C>T; p.T1897M; 9:136500796-136500796

c.6627C>T; p.Y2209Y; 9:136497112-136497112

c.7425delC; p.V2476fs*1; 9:136496314-136496314

c.4986G>A; p.R1662R; 9:136504705-136504705

c.6782_6783insG; p.G2262fs*6; 9:136496956-136496957

c.7658C>A; p.A2553D; 9:136496081-136496081

c.3873C>G; p.F1291L; 9:136506744-136506744

c.5529G>A; p.W1843*; 9:136501857-136501857

c.5529G>A; p.W1843*; 9:136501857-136501857

c.2014+1G>C; p.?; 9:136515289-136515289

c.890A>G; p.D297G; 9:136518800-136518800

c.4880G>A; p.R1627H; 9:136504811-136504811

c.4818_4818C>AATT; p.F1606>LI; 9:136504873-136504873

c.404-1C>T; p.?; 9:136523189-136523189

c.4744_4746delCCG; p.P1582delP; 9:136504945-136504947

c.1392C>T; p.D464D; 9:136517801-136517801

c.4820_4821ins?; p.?; 9:136504873-136504874

c.4754_4755TG>CT; p.L1585P; 9:136504936-136504937

c.6191C>T; p.P2064L; 9:136497548-136497548

c.1915G>A; p.E639K; 9:136515389-136515389

c.1120G>T; p.D374Y; 9:136518272-136518272

c.7651C>G; p.P2551A; 9:136496088-136496088

c.7336_7337insGCCAC; p.L2446fs*33; 9:136496402-136496403

c.5347C>T; p.R1783W; 9:136502309-136502309

c.778G>T; p.D260Y; 9:136519530-136519530

c.2524G>T; p.G842W; 9:136511215-136511215

c.5158_5162GCCGT>TATGG; p.A1720_V1721>YG; 9:136503187-136503191

c.7651C>G; p.P2551A; 9:136496088-136496088

c.5224_5225ins45; p.A1742>ESYPRRGSCTSGRCWP; 9:136502431-136502432

c.1405G>T; p.D469Y; 9:136517788-136517788

c.7246C>T; p.Q2416*; 9:136496493-136496493

c.7112C>G; p.T2371S; 9:136496627-136496627

c.4819_4821AAG>GACCCC; p.K1607>DP; 9:136504870-136504872

c.7246C>T; p.Q2416*; 9:136496493-136496493

c.475G>A; p.E159K; 9:136523117-136523117

c.1405G>A; p.D469N; 9:136517788-136517788

c.1763C>T; p.T588I; 9:136515623-136515623

c.7246C>T; p.Q2416*; 9:136496493-136496493

c.5033T>C; p.L1678P; 9:136503316-136503316

c.5033T>C; p.L1678P; 9:136503316-136503316

c.5033T>C; p.L1678P; 9:136503316-136503316

c.5033T>C; p.L1678P; 9:136503316-136503316

c.5033T>C; p.L1678P; 9:136503316-136503316

c.5033T>C; p.L1678P; 9:136503316-136503316

c.5033T>C; p.L1678P; 9:136503316-136503316

c.5033T>C; p.L1678P; 9:136503316-136503316

c.5033T>C; p.L1678P; 9:136503316-136503316

c.5033T>C; p.L1678P; 9:136503316-136503316

c.5033T>C; p.L1678P; 9:136503316-136503316

c.5539C>T; p.H1847Y; 9:136501847-136501847

c.5033T>C; p.L1678P; 9:136503316-136503316

c.7386delC; p.A2463fs*14; 9:136496353-136496353

c.7386delC; p.A2463fs*14; 9:136496353-136496353

c.5033T>C; p.L1678P; 9:136503316-136503316

c.5033T>C; p.L1678P; 9:136503316-136503316

c.5033T>C; p.L1678P; 9:136503316-136503316

c.5033T>C; p.L1678P; 9:136503316-136503316

c.4903G>A; p.A1635T; 9:136504788-136504788

c.5033T>C; p.L1678P; 9:136503316-136503316

c.5033T>C; p.L1678P; 9:136503316-136503316

c.7386delC; p.A2463fs*14; 9:136496353-136496353

c.6482_6844del363; p.S2163_S2283del121; 9:136496895-136497257

c.5033T>C; p.L1678P; 9:136503316-136503316

c.5033T>C; p.L1678P; 9:136503316-136503316

c.5033T>C; p.L1678P; 9:136503316-136503316

c.7058G>A; p.S2353N; 9:136496681-136496681

c.5033T>C; p.L1678P; 9:136503316-136503316

c.5033T>C; p.L1678P; 9:136503316-136503316

c.5033T>C; p.L1678P; 9:136503316-136503316

c.5033T>C; p.L1678P; 9:136503316-136503316

c.5033T>C; p.L1678P; 9:136503316-136503316

c.5033T>C; p.L1678P; 9:136503316-136503316

c.5033T>C; p.L1678P; 9:136503316-136503316

c.7386delC; p.A2463fs*14; 9:136496353-136496353

c.5033T>C; p.L1678P; 9:136503316-136503316

c.5033T>C; p.L1678P; 9:136503316-136503316

c.4984C>T; p.R1662W; 9:136504707-136504707

c.4903G>A; p.A1635T; 9:136504788-136504788

c.5033T>C; p.L1678P; 9:136503316-136503316

c.5033T>C; p.L1678P; 9:136503316-136503316

c.4781_4786delGGGAGC; p.R1594_E1595delRE; 9:136504905-136504910

c.7386delC; p.A2463fs*14; 9:136496353-136496353

c.5033T>C; p.L1678P; 9:136503316-136503316

c.4903G>A; p.A1635T; 9:136504788-136504788

c.4841_4850AGATGATCTT>NNNNNNN; p.Q1614_F1617>XXX; 9:136504841-136504850

c.3635G>A; p.G1212D; 9:136507313-136507313

c.7412_7413ins23; p.L2472fs*1; 9:136496326-136496327

c.2793C>T; p.C931C; 9:136509909-136509909

c.977G>T; p.G326V; 9:136518713-136518713

c.6993_6994insA; p.P2332fs*22; 9:136496745-136496746

c.7230G>T; p.P2410P; 9:136496509-136496509

c.668G>T; p.S223I; 9:136522924-136522924

c.7327_7327G>TAAACCCTT; p.V2443fs*1; 9:136496412-136496412

c.1024G>A; p.A342T; 9:136518666-136518666

c.6414G>A; p.P2138P; 9:136497325-136497325

c.6058G>C; p.D2020H; 9:136499136-136499136

c.4675C>T; p.L1559L; 9:136505016-136505016

c.7300delC; p.L2434fs*1; 9:136496439-136496439

c.2842G>T; p.E948*; 9:136509860-136509860

c.7535_7536insC; p.S2513fs*3; 9:136496203-136496204

c.7535_7536insC; p.S2513fs*3; 9:136496203-136496204

c.5220_5221ins51; p.A1740_A1741ins17; 9:136502435-136502436

c.164C>T; p.P55L; 9:136523956-136523956

c.5987C>T; p.T1996M; 9:136499207-136499207

c.6910T>G; p.L2304V; 9:136496829-136496829

c.5987C>T; p.T1996M; 9:136499207-136499207

c.6536G>A; p.R2179Q; 9:136497203-136497203

c.4785_4790GCTCAG>TCAGGC; p.E1595_S1597>DQA; 9:136504901-136504906

c.5045A>C; p.N1682T; 9:136503304-136503304

c.1990T>C; p.C664R; 9:136515314-136515314

c.4840C>A; p.Q1614K; 9:136504851-136504851

c.4715_4717GCA>TTCCTCCTG; p.G1572_T1573>VPPA; 9:136504974-136504976

c.1286G>T; p.C429F; 9:136517907-136517907

c.3490C>T; p.L1164L; 9:136507975-136507975

c.7285C>G; p.L2429V; 9:136496454-136496454

c.2734C>T; p.R912W; 9:136510659-136510659

c.2734C>T; p.R912W; 9:136510659-136510659

c.7313C>T; p.P2438L; 9:136496426-136496426

c.3345G>A; p.L1115L; 9:136508120-136508120

c.2734C>T; p.R912W; 9:136510659-136510659

c.2734C>T; p.R912W; 9:136510659-136510659

c.7263_7264insTG; p.S2422fs*1; 9:136496475-136496476

c.4818C>13; p.F1606>LPPHP; 9:136504873-136504873

c.4905C>T; p.A1635A; 9:136504786-136504786

c.4790G>T; p.S1597I; 9:136504901-136504901

c.4841_4851>CCCAGTCT; p.Q1614_F1617>PQS; 9:136504840-136504850

c.5054G>T; p.C1685F; 9:136503295-136503295

c.4939C>T; p.Q1647*; 9:136504752-136504752

c.4905C>T; p.A1635A; 9:136504786-136504786

c.4939C>T; p.Q1647*; 9:136504752-136504752

c.2171C>T; p.P724L; 9:136514546-136514546

c.7617T>A; p.P2539P; 9:136496122-136496122

c.7535delC; p.P2512fs*>44; 9:136496204-136496204

c.7225C>T; p.Q2409*; 9:136496514-136496514

c.3901G>A; p.G1301R; 9:136506716-136506716

c.7397C>T; p.T2466M; 9:136496342-136496342

c.7225C>T; p.Q2409*; 9:136496514-136496514

c.1746C>T; p.D582D; 9:136515640-136515640

c.7396_7397ins8; p.S2467fs; 9:136496342-136496343

c.5472+1G>A; p.?; 9:136502000-136502000

c.2644G>A; p.A882T; 9:136510749-136510749

c.7403_7404ins?; p.S2468fs*1; 9:136496338-136496339

c.4451A>G; p.N1484S; 9:136505445-136505445

c.413G>A; p.C138Y; 9:136523179-136523179

c.312T>C; p.N104N; 9:136523808-136523808

c.312T>C; p.N104N; 9:136523808-136523808

c.5221_5222ins108; p.A1740_A1741ins36; 9:136502434-136502435

c.2348T>C; p.F783S; 9:136513397-136513397

c.5028_5030delCTA; p.Y1677delY; 9:136503319-136503321

c.7047G>T; p.P2349P; 9:136496692-136496692

c.1378C>T; p.P460S; 9:136517815-136517815

c.6108C>T; p.A2036A; 9:136498971-136498971

c.2577G>T; p.T859T; 9:136511162-136511162

c.1100G>C; p.G367A; 9:136518292-136518292

c.2443T>C; p.C815R; 9:136513045-136513045

c.1100G>C; p.G367A; 9:136518292-136518292

c.2629C>T; p.P877S; 9:136510764-136510764

c.1378_1379CC>TT; p.P460L; 9:136517814-136517815

c.4906_4941del36; p.E1636_Q1647del12; 9:136504750-136504785

c.5558T>C; p.L1853P; 9:136501828-136501828

c.1378_1379CC>TT; p.P460L; 9:136517814-136517815

c.4325C>T; p.P1442L; 9:136505571-136505571

c.1549C>T; p.P517S; 9:136517278-136517278

c.5631C>T; p.R1877R; 9:136501755-136501755

c.1866C>T; p.D622D; 9:136515520-136515520

c.344delG; p.G115fs*8; 9:136523776-136523776

c.5162_5163ins42; p.V1721_Q1722ins14; 9:136503186-136503187

c.7396_7397AC>G; p.T2466fs*11; 9:136496342-136496343

c.7559G>A; p.W2520*; 9:136496180-136496180

c.4152G>T; p.Q1384H; 9:136505744-136505744

c.681C>A; p.C227*; 9:136522911-136522911

c.4775_4776insAGC; p.F1592>LA; 9:136504915-136504916

c.4743_4745delGCC; p.P1582delP; 9:136504946-136504948

c.6920A>G; p.Q2307R; 9:136496819-136496819

c.4745_4745C>GAA; p.P1582fs*35; 9:136504946-136504946

c.1340C>T; p.P447L; 9:136517853-136517853

c.6863_6864CC>TT; p.S2288F; 9:136496875-136496876

c.4733T>C; p.V1578A; 9:136504958-136504958

c.5991G>A; p.T1997T; 9:136499203-136499203

c.7242delA; p.P2415fs*7; 9:136496497-136496497

c.7387delG; p.A2463fs*14; 9:136496352-136496352

c.7268C>A; p.S2423*; 9:136496471-136496471

c.7387delG; p.A2463fs*14; 9:136496352-136496352

c.7268C>A; p.S2423*; 9:136496471-136496471

c.6131C>T; p.A2044V; 9:136498948-136498948

c.7367_7368insCT; p.L2457fs*21; 9:136496371-136496372

c.7370_7371insATTCT; p.P2458fs*21; 9:136496368-136496369

c.1441+1G>A; p.?; 9:136517751-136517751

c.7408_7426del19; p.S2470fs*1; 9:136496313-136496331

c.4899T>C; p.R1633R; 9:136504792-136504792

c.5154_5155insCCC; p.I1718_E1719insP; 9:136503194-136503195

c.1193G>T; p.C398F; 9:136518199-136518199

c.2300C>T; p.T767I; 9:136513445-136513445

c.7410C>T; p.S2470S; 9:136496329-136496329

c.2003C>T; p.P668L; 9:136515301-136515301

c.1039G>A; p.G347S; 9:136518651-136518651

c.7233A>G; p.P2411P; 9:136496506-136496506

c.1873T>G; p.Y625D; 9:136515513-136515513

c.7233A>G; p.P2411P; 9:136496506-136496506

c.2003C>T; p.P668L; 9:136515301-136515301

c.1712A>C; p.D571A; 9:136515674-136515674

c.1712A>C; p.D571A; 9:136515674-136515674

c.1366T>C; p.C456R; 9:136517827-136517827

c.4562G>A; p.C1521Y; 9:136505334-136505334

c.766G>C; p.E256Q; 9:136519542-136519542

c.1712A>C; p.D571A; 9:136515674-136515674

c.1712A>C; p.D571A; 9:136515674-136515674

c.1712A>C; p.D571A; 9:136515674-136515674

c.4562G>A; p.C1521Y; 9:136505334-136505334

c.1712A>C; p.D571A; 9:136515674-136515674

c.4776_4777insCATCCC; p.F1592_L1593insHP; 9:136504914-136504915

c.6384G>A; p.P2128P; 9:136497355-136497355

c.1712A>C; p.D571A; 9:136515674-136515674

c.1712A>C; p.D571A; 9:136515674-136515674

c.7023C>T; p.S2341S; 9:136496716-136496716

c.4818_4818C>TAAAGAATCGGAA; p.K1607_R1608insESEK; 9:136504873-136504873

c.4817_4818ins9; p.F1606>LGEN; 9:136504873-136504874

c.1712A>C; p.D571A; 9:136515674-136515674

c.1712A>C; p.D571A; 9:136515674-136515674

c.5094C>T; p.D1698D; 9:136503255-136503255

c.6967T>G; p.Y2323D; 9:136496772-136496772

c.6811C>T; p.P2271S; 9:136496928-136496928

c.5094C>T; p.D1698D; 9:136503255-136503255

c.5094C>T; p.D1698D; 9:136503255-136503255

c.129G>A; p.T43T; 9:136544035-136544035

c.5094C>T; p.D1698D; 9:136503255-136503255

c.5094C>T; p.D1698D; 9:136503255-136503255

c.5094C>T; p.D1698D; 9:136503255-136503255

c.5094C>T; p.D1698D; 9:136503255-136503255

c.5094C>T; p.D1698D; 9:136503255-136503255

c.5094C>T; p.D1698D; 9:136503255-136503255

c.5094C>T; p.D1698D; 9:136503255-136503255

c.7168_7169ins8; p.L2390fs; 9:136496570-136496571

c.5094C>T; p.D1698D; 9:136503255-136503255

c.5094C>T; p.D1698D; 9:136503255-136503255

c.5094C>T; p.D1698D; 9:136503255-136503255

c.5094C>T; p.D1698D; 9:136503255-136503255

c.5094C>T; p.D1698D; 9:136503255-136503255

c.4681T>C; p.C1561R; 9:136505010-136505010

c.5094C>T; p.D1698D; 9:136503255-136503255

c.5094C>T; p.D1698D; 9:136503255-136503255

c.5094C>T; p.D1698D; 9:136503255-136503255

c.5094C>T; p.D1698D; 9:136503255-136503255

c.5094C>T; p.D1698D; 9:136503255-136503255

c.7327_7328ins5; p.V2443fs; 9:136496411-136496412

c.7520A>G; p.H2507R; 9:136496219-136496219

c.5094C>T; p.D1698D; 9:136503255-136503255

c.6811C>T; p.P2271S; 9:136496928-136496928

c.7403_7404TG>C; p.L2468fs*9; 9:136496335-136496336

c.1648T>A; p.Y550N; 9:136516002-136516002

c.7475C>A; p.S2492*; 9:136496264-136496264

c.7475C>A; p.S2492*; 9:136496264-136496264

c.7475C>A; p.S2492*; 9:136496264-136496264

c.7574C>T; p.P2525L; 9:136496165-136496165

c.4776_4777insNNNNNN; p.F1592_L1593insXX; 9:136504914-136504915

c.6208C>T; p.R2070W; 9:136497531-136497531

c.7475C>A; p.S2492*; 9:136496264-136496264

c.1100-9C>T; p.?; 9:136518301-136518301

c.5124G>T; p.S1708S; 9:136503225-136503225

c.7475C>A; p.S2492*; 9:136496264-136496264

c.7574C>T; p.P2525L; 9:136496165-136496165

c.5154C>T; p.I1718I; 9:136503195-136503195

c.1026C>T; p.A342A; 9:136518664-136518664

c.7575G>A; p.P2525P; 9:136496164-136496164

c.1026C>T; p.A342A; 9:136518664-136518664

c.5154C>T; p.I1718I; 9:136503195-136503195

c.5154C>T; p.I1718I; 9:136503195-136503195

c.2930G>A; p.G977E; 9:136509772-136509772

c.7419_7420insGG; p.P2474fs*4; 9:136496319-136496320

c.6223G>T; p.E2075*; 9:136497516-136497516

c.5219_5220ins54; p.A1740_A1741ins18; 9:136502436-136502437

c.4773_4775CTT>NNN; p.H1591_F1592>XX; 9:136504916-136504918

c.4348G>A; p.E1450K; 9:136505548-136505548

c.4773_4775CTT>NNN; p.H1591_F1592>XX; 9:136504916-136504918

c.7180C>T; p.Q2394*; 9:136496559-136496559

c.4918_4939del22; p.A1640fs*2; 9:136504752-136504773

c.7401delG; p.L2468fs*9; 9:136496338-136496338

c.928G>A; p.G310R; 9:136518762-136518762

c.4826A>T; p.D1609V; 9:136504865-136504865

c.7419_7420insTGGT; p.P2474fs*34; 9:136496319-136496320

c.6886_6887insCC; p.F2296fs*10; 9:136496852-136496853

c.4811T>A; p.V1604E; 9:136504880-136504880

c.404-1G>A; p.?; 9:136523189-136523189

c.4826A>T; p.D1609V; 9:136504865-136504865

c.7327_7328insAGGAAAAG; p.V2443fs*37; 9:136496411-136496412

c.4918_4939del22; p.A1640fs*2; 9:136504752-136504773

c.4826A>T; p.D1609V; 9:136504865-136504865

c.4203G>C; p.G1401G; 9:136505693-136505693

c.928G>A; p.G310R; 9:136518762-136518762

c.6870C>T; p.S2290S; 9:136496869-136496869

c.4813_4817GTCTT>14; p.V1605_F1606>LYPKP; 9:136504874-136504878

c.1256-9C>T; p.?; 9:136517946-136517946

c.3835C>T; p.R1279C; 9:136506782-136506782

c.4826A>T; p.D1609V; 9:136504865-136504865

c.928G>A; p.G310R; 9:136518762-136518762

c.7419_7420insTGGT; p.P2474fs*34; 9:136496319-136496320

c.6619C>T; p.H2207Y; 9:136497120-136497120

c.1393G>A; p.A465T; 9:136517800-136517800

c.1393G>A; p.A465T; 9:136517800-136517800

c.1393G>A; p.A465T; 9:136517800-136517800

c.7456T>C; p.S2486P; 9:136496283-136496283

c.1393G>A; p.A465T; 9:136517800-136517800

c.4825G>T; p.D1609Y; 9:136504866-136504866

c.5024_5026delTCG; p.V1676delV; 9:136503323-136503325

c.5212_5213ins102; p.M1737_Y1738ins34; 9:136502443-136502444

c.1749C>T; p.G583G; 9:136515637-136515637

c.7282_7283insGC; p.H2428fs*8; 9:136496456-136496457

c.1393G>A; p.A465T; 9:136517800-136517800

c.2705G>A; p.R902H; 9:136510688-136510688

c.1393G>A; p.A465T; 9:136517800-136517800

c.4873_4911del39; p.E1625_G1637del13; 9:136504780-136504818

c.5876A>C; p.N1959T; 9:136500610-136500610

c.3146A>T; p.Q1049L; 9:136508895-136508895

c.5585C>T; p.P1862L; 9:136501801-136501801

c.4847T>A; p.I1616N; 9:136504844-136504844

c.1718A>C; p.D573A; 9:136515668-136515668