PCGP germline mutation   [Top]

NOTCH1_G419_E8splice_region; chr9; 139412398

PCGP somatic mutation   [Top]

NOTCH1_A342fs; chr9; 139413117

NOTCH1_R1598P; chr9; 139399350

NOTCH1_L1593P; chr9; 139399365

NOTCH1_L1678P; chr9; 139397768

NOTCH1_Q2501*; chr9; 139390690

NOTCH1_I1675>TEGL; chr9; 139397777

NOTCH1_P2514fs; chr9; 139390649

NOTCH1_T2483fs; chr9; 139390743

NOTCH1_EinsR1598; chr9; 139399351

NOTCH1_Q2501*; chr9; 139390690

NOTCH1_L1600P; chr9; 139399344

NOTCH1_P2514fs; chr9; 139390649

NOTCH1_I1680N; chr9; 139397762

NOTCH1_C1692S; chr9; 139397727

NOTCH1_I1616>KGGL; chr9; 139399296

NOTCH1_L1600Q; chr9; 139399344

NOTCH1_I1718>IP; chr9; 139397647

NOTCH1_P2514fs; chr9; 139390649

NOTCH1_H1591>HQH; chr9; 139399370

NOTCH1_T2483M; chr9; 139390743

NOTCH1_Q2440*; chr9; 139390873

NOTCH1_S2492*; chr9; 139390716

NOTCH1_I1680T; chr9; 139397762

NOTCH1_L1600Q; chr9; 139399344

NOTCH1_L1678P; chr9; 139397768

NOTCH1_L1678P; chr9; 139397768

NOTCH1_L1600P; chr9; 139399344

NOTCH1_N2401_P2413fs; chr9; 139390954

NOTCH1_T2483M; chr9; 139390743

COSMIC somatic mutation   [Top]

c.1024G>A; p.A342T;

c.2134A>C; p.T712P;

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.5039T>A; p.I1680N; 9:138517583-138517583

c.7370_7371insATTCT; p.P2458fs*21; 9:138510641-138510642

c.7029_7031GCA>TCCA; p.Q2343fs*11; 9:138510981-138510983

c.4788_4789insGGA; p.L1596_S1597insG; 9:138519175-138519176

c.4732_4734delGTG; p.V1578delV; 9:138519230-138519232

c.4721T>C; p.L1574P; 9:138519243-138519243

c.4732_4734delGTG; p.V1578delV; 9:138519230-138519232

c.4754T>C; p.L1585P; 9:138519210-138519210

c.7263_7264insTG; p.S2422fs*1; 9:138510748-138510749

c.4754T>C; p.L1585P; 9:138519210-138519210

c.4754T>C; p.L1585P; 9:138519210-138519210

c.4768_4785>12; p.F1590_E1595>LLGG; 9:138519179-138519196

c.4775T>C; p.F1592S; 9:138519189-138519189

c.4778T>C; p.L1593P; 9:138519186-138519186

c.4793G>C; p.R1598P; 9:138519171-138519171

c.4792_4793insAAA; p.R1598>QS; 9:138519171-138519172

c.4799T>C; p.L1600P; 9:138519165-138519165

c.4817_4818insGGACCC; p.F1606>LDP; 9:138519146-138519147

c.4817_4818insGGGGAC; p.F1606>LGT; 9:138519146-138519147

c.4817_4818ins12; p.F1606>LNPLS; 9:138519146-138519147

c.4818C>13; p.F1606>LPPHP; 9:138519146-138519146

c.4826_4900del75; p.D1609_R1633del25; 9:138519064-138519138

c.5026_5027insGAATCG; p.I1675_V1676insGI; 9:138517595-138517596

c.6984_6985insG; p.S2329fs*25; 9:138511027-138511028

c.5033T>C; p.L1678P; 9:138517589-138517589

c.5033T>C; p.L1678P; 9:138517589-138517589

c.5033T>A; p.L1678Q; 9:138517589-138517589

c.6782_6783insG; p.G2262fs*6; 9:138511229-138511230

c.5039T>A; p.I1680N; 9:138517583-138517583

c.5101G>C; p.A1701P; 9:138517521-138517521

c.5219_5220ins54; p.A1740_A1741ins18; 9:138516709-138516710

c.5696A>T; p.N1899I; 9:138515063-138515063

c.6811C>T; p.P2271S; 9:138511201-138511201

c.7216C>T; p.Q2406*; 9:138510796-138510796

c.7261G>A; p.V2421M; 9:138510751-138510751

c.7268C>A; p.S2423*; 9:138510744-138510744

c.7475_7502>13; p.S2492_Q2501>FS*; 9:138510510-138510537

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.3407G>T; p.G1136V;

c.4673G>T; p.G1558V;

c.7313C>T; p.P2438L; 9:138510699-138510699

c.403G>T; p.G135W;

c.3348C>T; p.C1116C;

c.4721T>C; p.L1574P; 9:138519243-138519243

c.7513_7515CCT>21; p.P2505>CD*; 9:138510497-138510499

c.6454G>A; p.G2152S;

c.6476G>A; p.R2159H;

c.7470_7471insNN; p.S2491fs*>66; 9:138510541-138510542

c.5022_5023insNNN; p.S1674_I1675insX; 9:138517599-138517600

c.7327_7328insNNNNNNNN; p.V2443fs*37; 9:138510684-138510685

c.5022_5023insNNN; p.S1674_I1675insX; 9:138517599-138517600

c.7327_7328insNNNNNNNN; p.V2443fs*37; 9:138510684-138510685

c.4721_4722TG>CT; p.L1574P; 9:138519242-138519243

c.4754_4755TG>CT; p.L1585P; 9:138519209-138519210

c.7387delG; p.A2463fs*14; 9:138510625-138510625

c.4849_4851delTTC; p.F1617delF; 9:138519113-138519115

c.4787T>A; p.L1596H; 9:138519177-138519177

c.4778T>C; p.L1593P; 9:138519186-138519186

c.4773_4775CTT>NNN; p.H1591_F1592>XX; 9:138519189-138519191

c.4773_4775CTT>NNN; p.H1591_F1592>XX; 9:138519189-138519191

c.4777_4778CT>NNNNN; p.L1593>XX; 9:138519186-138519187

c.5087C>A; p.A1696D; 9:138517535-138517535

c.4776_4777insNNNNNN; p.F1592_L1593insXX; 9:138519187-138519188

c.4847T>A; p.I1616N; 9:138519117-138519117

c.7301_7302insNNNNN; p.S2435fs*44; 9:138510710-138510711

c.4778T>C; p.L1593P; 9:138519186-138519186

c.4849_4851delTTC; p.F1617delF; 9:138519113-138519115

c.4721T>C; p.L1574P; 9:138519243-138519243

c.4774_4780TTCCTGC>NNNNNNNNNN; p.F1592_R1594>XXXX; 9:138519184-138519190

c.4841_4850AGATGATCTT>NNNNNNN; p.Q1614_F1617>XXX; 9:138519114-138519123

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.4754T>C; p.L1585P; 9:138519210-138519210

c.4775_4776insAAG; p.F1592>LS; 9:138519188-138519189

c.7419_7420insTGGT; p.P2474fs*34; 9:138510592-138510593

c.7419_7420insTGGT; p.P2474fs*34; 9:138510592-138510593

c.5033T>C; p.L1678P; 9:138517589-138517589

c.7400C>A; p.S2467*; 9:138510612-138510612

c.5078T>C; p.F1693S; 9:138517544-138517544

c.7004_7005insT; p.S2336fs*18; 9:138511007-138511008

c.5033T>C; p.L1678P; 9:138517589-138517589

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.?; p.R1599P;

c.?; p.R1599P;

c.?_?del?; p.A2426fs;

c.?; p.L1586P;

c.?_?ins?; p.P2476fs;

c.?; p.L1594P;

c.?_?del?; p.Q2504fs;

c.?; p.L1601P;

c.?_?ins?; p.F1607_K1608insVRVTHTK;

c.?; p.L1575P;

c.?; p.T2484M;

c.5110G>T; p.G1704*;

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7246C>T; p.Q2416*; 9:138510766-138510766

c.7231_7233delCCA; p.P2415delP; 9:138510779-138510781

c.7318C>T; p.Q2440*; 9:138510694-138510694

c.5074T>C; p.C1692R; 9:138517548-138517548

c.7318C>T; p.Q2440*; 9:138510694-138510694

c.5074T>C; p.C1692R; 9:138517548-138517548

c.?; p.L1679P;

c.?_?ins?; p.S2528fs*80;

c.?; p.M1581_P1582insPRYEL;

c.?; p.L1586P;

c.?_?ins?; p.P2475fs*1;

c.?; p.Y2491*;

c.?; p.V1579del;

c.?; p.L1601P;

c.?; p.I1632V;

c.?; p.L1594P;

c.?_?ins?; p.S2440fs*4;

c.?; p.P1583del;

c.?; p.R1599P;

c.?; p.L1601P;

c.?; p.L1586P;

c.?; p.L1594P;

c.?; p.L1679P;

c.?; p.T2484M;

c.?; p.H1602_T1603insQ;

c.?_?ins?; p.V2444fs*34;

c.?; p.V1579del;

c.?; p.V1605E;

c.?; p.L1601P;

c.?; p.M1616_F1618>L;

c.?; p.V1605G;

c.?; p.I1676_V1677>MF;

c.?; p.Q2502*;

c.?; p.I1719T;

c.?; p.V1579E;

c.?; p.L1679Q;

c.?_?del?; p.P2515fs*4;

c.?; p.F1593S;

c.?_?ins?; p.E2516fs*1;

c.?; p.L1594P;

c.?_?ins?; p.L2469fs*10;

c.?_?del?; p.Q2460fs*18;

c.?; p.L1679P;

c.?; p.S2291S;

c.?; p.V1579del;

c.?_?ins?; p.L2469fs*10;

c.?; p.L1586Q;

c.?; p.L1575P;

c.?; p.L1601P;

c.?; p.F1607_K1608>RSE;

c.?; p.P1583del;

c.?; p.L1586P;

c.?; p.L1586P;

c.?; p.A2357_S2358>TN;

c.?; p.V1579del;

c.?; p.G1647S;

c.?; p.F1618_P1619del;

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.?; p.T2484A;

c.?; p.P2416del;

c.?; p.P2414L;

c.?; p.P2416del;

c.?; p.A2425V;

c.?; p.V1579del;

c.?; p.V2444A;

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.4733T>G; p.V1578G; 9:138519231-138519231

c.4778T>C; p.L1593P; 9:138519186-138519186

c.4732_4734delGTG; p.V1578delV; 9:138519230-138519232

c.7560G>A; p.W2520*; 9:138510452-138510452

c.5024_5025insCCGCTTTCC; p.I1675_V1676insRFP; 9:138517597-138517598

c.7475C>A; p.S2492*; 9:138510537-138510537

c.4793G>C; p.R1598P; 9:138519171-138519171

c.?; p.F1593S;

c.4817_4818ins15; p.F1606>LPRNED; 9:138519146-138519147

c.4817_4818ins15; p.F1606>LPRNED; 9:138519146-138519147

c.4817_4818insTGTCGC; p.F1606_K1607insVA; 9:138519146-138519147

c.?_?ins26; p.?fs;

c.4738_4740delATG; p.M1580delM; 9:138519224-138519226

c.5033T>A; p.L1678Q; 9:138517589-138517589

c.7373_7374ins37; p.Q2459fs*60; 9:138510638-138510639

c.7548_7549ins13; p.P2517fs*6; 9:138510463-138510464

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.?; p.V1672I;

c.?; p.V1672I;

c.?; p.A2280V;

c.?; p.A2280V;

c.?; p.G2153R;

c.?; p.G2153R;

c.5033T>C; p.L1678P; 9:138517589-138517589

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7326delC; p.D2442fs*35; 9:138510686-138510686

c.7281_7288CCACCTGG>17; p.L2429_G2430>CLVSR; 9:138510724-138510731

c.7507C>T; p.Q2503*; 9:138510505-138510505

c.7213C>T; p.Q2405*; 9:138510799-138510799

c.4732_4734delGTG; p.V1578delV; 9:138519230-138519232

c.7375delC; p.Q2459fs*18; 9:138510637-138510637

c.5033T>C; p.L1678P; 9:138517589-138517589

c.7328_7330TGC>GGTTTTG; p.V2443fs*3; 9:138510682-138510684

c.4721T>C; p.L1574P; 9:138519243-138519243

c.7328_7331TGCA>GAAGTAGTG; p.V2443fs*36; 9:138510681-138510684

c.4743_4745delGCC; p.P1582delP; 9:138519219-138519221

c.7336_7337insGCCAC; p.L2446fs*33; 9:138510675-138510676

c.7261_7262insAG; p.V2421fs*2; 9:138510750-138510751

c.5161G>A; p.V1721M; 9:138517461-138517461

c.6993_6994insA; p.P2332fs*22; 9:138511018-138511019

c.4793G>C; p.R1598P; 9:138519171-138519171

c.6733G>A; p.G2245R; 9:138511279-138511279

c.4819A>13; p.K1607>GPPLQ; 9:138519145-138519145

c.7327_7328ins14; p.V2443fs*39; 9:138510684-138510685

c.4745_4746insTCC; p.P1582_E1583insP; 9:138519218-138519219

c.4775_4776insGGG; p.F1592>LG; 9:138519188-138519189

c.4775_4776insGGGAGC; p.F1592>LGA; 9:138519188-138519189

c.4778T>C; p.L1593P; 9:138519186-138519186

c.4793G>C; p.R1598P; 9:138519171-138519171

c.4850_4851insTGAACCCCC; p.F1617_P1618insEPP; 9:138519113-138519114

c.5162T>A; p.V1721E; 9:138517460-138517460

c.6810_6820del11; p.R2272fs*78; 9:138511192-138511202

c.6980_6981insA; p.S2329fs*25; 9:138511031-138511032

c.4828G>A; p.A1610T; 9:138519136-138519136

c.4827_4828insCCCCAACCT; p.D1609_A1610insPQP; 9:138519136-138519137

c.4898G>T; p.R1633L; 9:138519066-138519066

c.5094C>T; p.D1698D; 9:138517528-138517528

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.5094C>T; p.D1698D; 9:138517528-138517528

c.4966G>A; p.G1656S; 9:138518998-138518998

c.7233A>G; p.P2411P; 9:138510779-138510779

c.7507C>T; p.Q2503*; 9:138510505-138510505

c.5094C>T; p.D1698D; 9:138517528-138517528

c.4985G>T; p.R1662L; 9:138518979-138518979

c.7515T>G; p.P2505P; 9:138510497-138510497

c.5094C>T; p.D1698D; 9:138517528-138517528

c.5011G>A; p.V1671I; 9:138518953-138518953

c.4948G>A; p.A1650T; 9:138519016-138519016

c.7375C>T; p.Q2459*; 9:138510637-138510637

c.7392G>A; p.L2464L; 9:138510620-138510620

c.7518_7537>TCTCCTACC; p.E2506fs*6; 9:138510475-138510494

c.7515T>A; p.P2505P; 9:138510497-138510497

c.4893C>T; p.I1631I; 9:138519071-138519071

c.7531_7541del11; p.T2511fs*1; 9:138510471-138510481

c.7515T>G; p.P2505P; 9:138510497-138510497

c.5011G>A; p.V1671I; 9:138518953-138518953

c.5094C>T; p.D1698D; 9:138517528-138517528

c.4976G>A; p.G1659D; 9:138518988-138518988

c.5094C>T; p.D1698D; 9:138517528-138517528

c.5024_5026delTCG; p.V1676delV; 9:138517596-138517598

c.7322C>T; p.A2441V; 9:138510690-138510690

c.4900G>T; p.A1634S; 9:138519064-138519064

c.7530C>T; p.L2510L; 9:138510482-138510482

c.4776_4777ins36; p.L1593_R1594ins12; 9:138519187-138519188

c.4776_4777ins36; p.L1593_R1594ins12; 9:138519187-138519188

c.7313_7314insCT; p.S2439fs*1; 9:138510698-138510699

c.5094C>T; p.D1698D; 9:138517528-138517528

c.7606G>A; p.V2536I; 9:138510406-138510406

c.5094C>T; p.D1698D; 9:138517528-138517528

c.5094C>T; p.D1698D; 9:138517528-138517528

c.4732_4734delGTG; p.V1578delV; 9:138519230-138519232

c.5094C>T; p.D1698D; 9:138517528-138517528

c.4732_4734delGTG; p.V1578delV; 9:138519230-138519232

c.5094C>T; p.D1698D; 9:138517528-138517528

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.?; p.D1547G;

c.?; p.S2487*;

c.?; p.T1574_V1576del;

c.?; p.L1575P;

c.?; p.L1575P;

c.?; p.S2440fs*4;

c.?; p.L1575P;

c.?; p.V1578A;

c.?; p.V2444fs*37;

c.?; p.L1575P;

c.?; p.E2268fs*89;

c.?; p.V1577E;

c.?; p.V1577_V1578>FRP;

c.?; p.S2468fs*11;

c.?; p.V1579A;

c.?; p.V1579del;

c.?; p.V1579del;

c.?; p.M1581del;

c.?; p.P1582_E1584>Q;

c.?; p.M1581_P1582insLMHLAF;

c.?; p.Q1585del;

c.?; p.L1586P;

c.?; p.L1586P;

c.?; p.Q2392*;

c.?; p.L1586P;

c.?; p.P2518*;

c.?; p.L1586P;

c.?; p.L1586P;

c.?; p.L1586P;

c.?; p.R1587P;

c.?; p.S2493*;

c.?; p.F1593S;

c.?; p.F1593S;

c.?; p.F1593S;

c.?; p.F1593C;

c.?; p.F1593C;

c.?; p.F1593L;

c.?; p.F1593>LA;

c.?; p.F1593>LA;

c.?; p.F1593>LS;

c.?; p.F1593>LS;

c.?; p.F1593_L1594insGVN;

c.?; p.P2515fs*4;

c.?; p.F1593_L1594insC;

c.?; p.E2516fs*3;

c.?; p.L1594P;

c.?; p.L1594P;

c.?; p.L1594P;

c.?; p.L1594P;

c.?; p.L1594P;

c.?; p.L1594>NPM;

c.?; p.F1593_L1594insDLS;

c.?; p.S2440fs*4;

c.?; p.R1599P;

c.?; p.L1601P;

c.?; p.L1601P;

c.?; p.L1601P;

c.?; p.L1601P;

c.?; p.L1601P;

c.?; p.L1601P;

c.?; p.L1601P;

c.?; p.L1601P;

c.?; p.L1601P;

c.?; p.L1601_H1602insL;

c.?; p.S2433fs*5;

c.?; p.L1601_H1602insA;

c.?; p.V1605_V1606del;

c.?; p.V1606_F1607insLVY;

c.?; p.F1607>LD;

c.?; p.F1607_K1608>LGLWRQ;

c.?; p.K1608N;

c.?; p.K1608_R1609insPAK;

c.?; p.I1617N;

c.?; p.I1617N;

c.?; p.I1617_R1623>G;

c.?; p.F1618_Y1620>WSP;

c.?; p.Q2394*;

c.?; p.V1677D;

c.?; p.L1679P;

c.?; p.L1679P;

c.?; p.L1679P;

c.?; p.L1679P;

c.?; p.L1679Q;

c.?; p.S2487fs*7;

c.?; p.I1681S;

c.?; p.D1682G;

c.?; p.V2286I;

c.?; p.A1697D;

c.?; p.L1710P;

c.?; p.V1722G;

c.?; p.V1722M;

c.?; p.Q2504fs*5;

c.?; p.V1722M;

c.?; p.S2440fs*4;

c.?; p.E2268fs*31;

c.?; p.A1742_A1743insGALHFMYVA;

c.?; p.A2340fs*15;

c.?; p.M2347fs*9;

c.?; p.A2426fs*15;

c.?; p.I2457fs*21;

c.?; p.A2464fs*14;

c.?; p.P2475fs*5;

c.?; p.F2482fs*5;

c.?; p.P2515fs*4;

c.?; p.V2286I;

c.?; p.V2286I;

c.?; p.K1783_R1784ins31;

c.?; p.K1783_R1784ins31;

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.6984_6985insG; p.S2329fs*25; 9:138511027-138511028

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.?; p.F1593S;

c.?; p.F1593>PEH;

c.6799_6800delGA; p.E2267fs*86; 9:138511212-138511213

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.?; p.L1575P;

c.?; p.L1575P;

c.?; p.L1575Q;

c.?; p.L1575P;

c.?; p.V1579E;

c.?; p.E1584G;

c.?; p.H1592Y;

c.?; p.S2330fs*7;

c.?; p.L1586P;

c.?; p.L1586P;

c.?; p.L1586P;

c.?; p.L1586P;

c.?; p.S2440G;

c.?; p.D2443fs*2;

c.?; p.L1586P;

c.?; p.G2334fs*21;

c.?; p.L1594P;

c.?; p.L1586P;

c.?; p.L1586P;

c.?; p.L1586Q;

c.?; p.R1587P;

c.?; p.F1593S;

c.?; p.F1593S;

c.?; p.L1594P;

c.?; p.L1594P;

c.?; p.L1594P;

c.?; p.L1594P;

c.?; p.S2514F;

c.?; p.L1594P;

c.?; p.L1594P;

c.?; p.S1598I;

c.?; p.N2402_I2403>GPSLNN;

c.?; p.L1601P;

c.?; p.L1601Q;

c.?; p.L1679P;

c.?; p.L1601Q;

c.7318C>T; p.Q2440*; 9:138510694-138510694

c.?; p.I1617N;

c.?; p.I1617N;

c.?; p.V1576_V1578del;

c.?; p.V1579del;

c.?; p.V1578_V1579insGV;

c.?; p.V2444fs*35;

c.?; p.P1583del;

c.?; p.T1603_N1604ins17;

c.?; p.V1605_R1609>LKGCD;

c.?; p.V1605_V1606insN;

c.?; p.F1607>LGM;

c.?; p.F1607_A1611>LVPSK;

c.?; p.V1606_F1607insLGR;

c.?; p.F1607_K1608insNPNVVLFK;

c.?; p.R1609_D1610ins12;

c.?; p.L2473fs*7;

c.?; p.S1675P;

c.?; p.S2342fs*13;

c.?; p.V1677H;

c.?; p.L1679P;

c.?; p.L1679P;

c.?; p.L1679P;

c.?; p.I1681N;

c.?; p.I1681S;

c.?; p.C1693R;

c.?; p.S2427fs*4;

c.?; p.A1702P;

c.?; p.A1702P;

c.?; p.I1719T;

c.?; p.V1722M;

c.?; p.I1676_V1677>MF;

c.?; p.Y1678>RAS;

c.?; p.V1677_Y1678insA;

c.?; p.Q1685_C1686insLEGQR;

c.?; p.N2296_F2297insWV;

c.?; p.M2347fs*16;

c.?; p.P2418L;

c.?; p.H2419fs*16;

c.?; p.V2444fs*35;

c.?; p.V2444fs*36;

c.?; p.S2450fs*28;

c.?; p.A2464fs*14;

c.?; p.A2464fs*14;

c.?; p.T2467fs*12;

c.?; p.P2513L;

c.?; p.P2513L;

c.?; p.Q2520*;

c.?; p.P2509fs*8;

c.?; p.P2518*;

c.7247_7248insCAC; p.Q2416>HT; 9:138510764-138510765

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7003_7004insC; p.L2335fs*19; 9:138511008-138511009

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.5340G>A; p.K1780K;

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.4730T>A; p.V1577E; 9:138519236-138519236

c.7419_7420insTGGTC; p.P2474fs*5; 9:138510592-138510593

c.4817_4818insGGA; p.F1606>LD; 9:138519146-138519147

c.4754_4755ins12; p.L1585_R1586insPGSR; 9:138519209-138519210

c.7330G>CCCCCTTCC; p.V2444fs*37;

c.7330_7331GT>14; p.V2444fs*3;

c.4744_4754CCGGAGCAGCT>ATAGAG; p.P1583_L1586>IEA;

c.4835_4853ACGGCCAGCAGATGATCTTCC>GGGGGA; p.H1612_P1619>RGT;

c.4799T>A; p.L1600Q; 9:138519165-138519165

c.6991G>A; p.A2331T; 9:138511021-138511021

c.5098G>C; p.A1700P; 9:138517524-138517524

c.4802A>C; p.H1601P; 9:138519162-138519162

c.7357_7358insCG; p.V2453fs*25; 9:138510654-138510655

c.7326_7327ins16; p.V2443fs*69; 9:138510685-138510686

c.7300delC; p.L2434fs*1; 9:138510712-138510712

c.4732_4734delGTG; p.V1578delV; 9:138519230-138519232

c.7330G>CCA; p.V2444fs*35;

c.7386delC; p.A2463fs*14; 9:138510626-138510626

c.7386_7387CG>T; p.A2463fs*14; 9:138510625-138510626

c.6223G>T; p.E2075*;

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.4924G>C; p.D1642H; 9:138519040-138519040

c.6979C>T; p.R2327W; 9:138511033-138511033

c.7330_7330G>TGT; p.V2444fs*35;

c.7330_7330G>TGT; p.V2444fs*35;

c.6821_6822insT; p.H2275fs*79; 9:138511190-138511191

c.7330_7330G>TGT; p.V2444fs*35;

c.7330_7330G>TGT; p.V2444fs*35;

c.7330_7330G>TGT; p.V2444fs*35;

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7412C>A; p.S2471*; 9:138510600-138510600

c.4754T>C; p.L1585P; 9:138519210-138519210

c.7589_7590insGCGG; p.D2531fs*>27; 9:138510422-138510423

c.4839_4859>NNNNNNNNN; p.Q1613_Y1620>XXXX; 9:138519105-138519125

c.4847T>A; p.I1616N; 9:138519117-138519117

c.4817_4818ins9; p.F1606>LGEN; 9:138519146-138519147

c.4846A>G; p.I1616V; 9:138519118-138519118

c.4849_4850TT>CC; p.F1617P; 9:138519114-138519115

c.7327_7328ins5; p.V2443fs; 9:138510684-138510685

c.7168_7169ins8; p.L2390fs; 9:138510843-138510844

c.4817_4818ins9; p.F1606>LGEN; 9:138519146-138519147

c.7586_7587insT; p.S2530fs*>27; 9:138510425-138510426

c.7403_7404TG>C; p.L2468fs*9; 9:138510608-138510609

c.5032_5033delCT; p.L1678fs*3; 9:138517589-138517590

c.7311_7312ins5; p.P2438fs; 9:138510700-138510701

c.7399_7400ins5; p.S2467fs; 9:138510612-138510613

c.4848delC; p.F1617fs*32; 9:138519116-138519116

c.4775T>C; p.F1592S; 9:138519189-138519189

c.7364_7365ins11; p.T2455fs; 9:138510647-138510648

c.4818_4842del25; p.F1606fs*2; 9:138519122-138519146

c.4744_4746delCCG; p.P1582delP; 9:138519218-138519220

c.4793G>C; p.R1598P; 9:138519171-138519171

c.4768_4775delTTCCACTT; p.F1590fs*17; 9:138519189-138519196

c.4799T>C; p.L1600P; 9:138519165-138519165

c.7323_7341del19; p.D2442fs*29; 9:138510671-138510689

c.4799T>C; p.L1600P; 9:138519165-138519165

c.4793G>C; p.R1598P; 9:138519171-138519171

c.7260_7261ins17; p.G2420fs; 9:138510751-138510752

c.4799T>C; p.L1600P; 9:138519165-138519165

c.4681T>C; p.C1561R; 9:138519283-138519283

c.4799T>C; p.L1600P; 9:138519165-138519165

c.7396_7397ins8; p.S2467fs; 9:138510615-138510616

c.4776_4777insTGG; p.F1592_L1593insW; 9:138519187-138519188

c.7399_7400insGG; p.S2467fs*11; 9:138510612-138510613

c.4848delC; p.F1617fs*32; 9:138519116-138519116

c.4787T>A; p.L1596H; 9:138519177-138519177

c.7367_7368insCT; p.L2457fs*21; 9:138510644-138510645

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c.4754T>C; p.L1585P; 9:138519210-138519210

c.7430_7431insTT; p.A2478fs*6; 9:138510581-138510582

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.4721T>C; p.L1574P; 9:138519243-138519243

c.4778T>C; p.L1593P; 9:138519186-138519186

c.7183C>T; p.Q2395*; 9:138510829-138510829

c.4754T>C; p.L1585P; 9:138519210-138519210

c.7327delG; p.V2443fs*34; 9:138510685-138510685

c.(4724_4726)>?; p.?; 9:138519241-138519243

c.4799T>A; p.L1600Q; 9:138519165-138519165

c.4820_4821ins?; p.?; 9:138519146-138519147

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c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7410_7411insGCCGG; p.S2471fs*8; 9:138510601-138510602

c.4721T>C; p.L1574P; 9:138519243-138519243

c.4775_4776insGGA; p.F1592>LD; 9:138519188-138519189

c.7026G>T; p.L2342L; 9:138510986-138510986

c.7038G>T; p.M2346I; 9:138510974-138510974

c.5011G>A; p.V1671I; 9:138518953-138518953

c.4732_4734delGTG; p.V1578delV; 9:138519230-138519232

c.4732_4734delGTG; p.V1578delV; 9:138519230-138519232

c.?; p.L1575P;

c.?; p.E2438*;

c.?; p.L1575P;

c.?; p.L1601H;

c.?; p.L1586P;

c.?; p.L1586P;

c.?; p.L1586P;

c.?; p.L1586P;

c.?; p.L1586P;

c.?; p.R1599P;

c.?; p.S1598T;

c.?; p.F1607_K1608>PAKE;

c.?; p.M1581_P1582insRP;

c.?; p.L1679P;

c.?; p.L1679P;

c.?; p.L1679P;

c.?; p.L1679P;

c.?; p.L1679P;

c.?; p.I1681M;

c.?; p.I1681M;

c.?; p.I1676T;

c.?; p.I1676T;

c.?; p.S2206R;

c.?; p.V2286I;

c.?; p.Q2392fs*2;

c.?; p.L2469fs*11;

c.?; p.Q2460*;

c.4721T>C; p.L1574P; 9:138519243-138519243

c.7413_7414insGA; p.L2472fs*6; 9:138510598-138510599

c.7459C>T; p.Q2487*;

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.4818_4819insGACCCTTCC; p.F1606_K1607insDPS; 9:138519145-138519146

c.5033T>C; p.L1678P; 9:138517589-138517589

c.4826_4900del75; p.D1609_R1633del25; 9:138519064-138519138

c.4799T>C; p.L1600P; 9:138519165-138519165

c.5033T>C; p.L1678P; 9:138517589-138517589

c.4793G>C; p.R1598P; 9:138519171-138519171

c.5137A>C; p.N1713H; 9:138517485-138517485

c.7443delC; p.L2482fs*1; 9:138510569-138510569

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7341_7342ins50; p.P2448fs*4; 9:138510670-138510671

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7318C>T; p.Q2440*; 9:138510694-138510694

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7507C>T; p.Q2503*; 9:138510505-138510505

c.7507C>T; p.Q2503*; 9:138510505-138510505

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.4867G>A; p.E1623K;

c.4649A>C; p.N1550T; 9:138519315-138519315

c.4918_4939del22; p.A1640fs*2; 9:138519025-138519046

c.7254delC; p.G2420fs*2; 9:138510758-138510758

c.7258G>C; p.G2420R; 9:138510754-138510754

c.5025C>T; p.I1675I; 9:138517597-138517597

c.5033T>C; p.L1678P; 9:138517589-138517589

c.5025C>T; p.I1675I; 9:138517597-138517597

c.7648A>G; p.I2550V; 9:138510364-138510364

c.7177_7178insAG; p.Q2394fs*29; 9:138510834-138510835

c.6870C>T; p.S2290S; 9:138511142-138511142

c.5033T>C; p.L1678P; 9:138517589-138517589

c.5025C>T; p.I1675I; 9:138517597-138517597

c.4901C>T; p.A1634V; 9:138519063-138519063

c.4921C>T; p.P1641S; 9:138519043-138519043

c.4939C>T; p.Q1647*; 9:138519025-138519025

c.4968C>T; p.G1656G; 9:138518996-138518996

c.4987C>T; p.R1663W; 9:138518977-138518977

c.4996C>T; p.L1666L; 9:138518968-138518968

c.5033T>C; p.L1678P; 9:138517589-138517589

c.5025C>T; p.I1675I; 9:138517597-138517597

c.4729G>A; p.V1577M; 9:138519235-138519235

c.7230G>T; p.P2410P; 9:138510782-138510782

c.5025C>T; p.I1675I; 9:138517597-138517597

c.4811T>G; p.V1604G; 9:138519153-138519153

c.4833C>T; p.H1611H; 9:138519131-138519131

c.4833C>T; p.H1611H; 9:138519131-138519131

c.5028_5030delCTA; p.Y1677delY; 9:138517592-138517594

c.4754T>A; p.L1585Q; 9:138519210-138519210

c.7328_7329insGG; p.Q2444fs*34; 9:138510683-138510684

c.4793G>C; p.R1598P; 9:138519171-138519171

c.4905C>T; p.A1635A; 9:138519059-138519059

c.4927G>A; p.A1643T; 9:138519037-138519037

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7311_7313GCC>AT; p.P2438fs*1; 9:138510699-138510701

c.4799T>C; p.L1600P; 9:138519165-138519165

c.7413_7414insAA; p.L2472fs*6; 9:138510598-138510599

c.4721T>C; p.L1574P; 9:138519243-138519243

c.4987_4989delCGG; p.R1664delR; 9:138518975-138518977

c.4906_4941del36; p.E1636_Q1647del12; 9:138519023-138519058

c.4971C>T; p.S1657S; 9:138518993-138518993

c.7648A>G; p.I2550V; 9:138510364-138510364

c.4918G>A; p.A1640T; 9:138519046-138519046

c.6921A>G; p.Q2307Q; 9:138511091-138511091

c.4948G>A; p.A1650T; 9:138519016-138519016

c.4897C>T; p.R1633C; 9:138519067-138519067

c.4915G>A; p.A1639T; 9:138519049-138519049

c.4956G>A; p.L1652L; 9:138519008-138519008

c.4754T>C; p.L1585P; 9:138519210-138519210

c.4905C>T; p.A1635A; 9:138519059-138519059

c.4956G>A; p.L1652L; 9:138519008-138519008

c.4984C>T; p.R1662W; 9:138518980-138518980

c.4903G>A; p.A1635T; 9:138519061-138519061

c.4903G>A; p.A1635T; 9:138519061-138519061

c.4953G>A; p.S1651S; 9:138519011-138519011

c.7028A>T; p.Q2343L; 9:138510984-138510984

c.4775T>C; p.F1592S; 9:138519189-138519189

c.4939C>T; p.Q1647*; 9:138519025-138519025

c.4976G>A; p.G1659D; 9:138518988-138518988

c.4818_4819CA>GGGGTCAC; p.F1606_K1607>LGSQ; 9:138519145-138519146

c.4906G>A; p.E1636K; 9:138519058-138519058

c.4933C>T; p.L1645L; 9:138519031-138519031

c.4903G>A; p.A1635T; 9:138519061-138519061

c.4979G>A; p.G1660E; 9:138518985-138518985

c.4915G>A; p.A1639T; 9:138519049-138519049

c.4932G>A; p.L1644L; 9:138519032-138519032

c.4866C>T; p.R1622R; 9:138519098-138519098

c.4873_4911del39; p.E1625_G1637del13; 9:138519053-138519091

c.7479T>G; p.P2493P; 9:138510533-138510533

c.4790G>T; p.S1597I; 9:138519174-138519174

c.5015G>A; p.R1672H; 9:138518949-138518949

c.4918_4939del22; p.A1640fs*2; 9:138519025-138519046

c.4899T>C; p.R1633R; 9:138519065-138519065

c.4721T>C; p.L1574P; 9:138519243-138519243

c.4793G>C; p.R1598P; 9:138519171-138519171

c.4813_4817GTCTT>14; p.V1605_F1606>LYPKP; 9:138519147-138519151

c.4793G>C; p.R1598P; 9:138519171-138519171

c.4741_4746delCCGCCG; p.P1581_P1582delPP; 9:138519218-138519223

c.7344_7345ins14; p.S2449fs*33; 9:138510667-138510668

c.4754T>C; p.L1585P; 9:138519210-138519210

c.4776C>GGAGGGA; p.F1592>LEG; 9:138519188-138519188

c.4774_4776TTC>CCA; p.F1592P; 9:138519188-138519190

c.4776_4777insCATCCC; p.F1592_L1593insHP; 9:138519187-138519188

c.4796T>G; p.V1599G; 9:138519168-138519168

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.4799T>C; p.L1600P; 9:138519165-138519165

c.7386delC; p.A2463fs*14; 9:138510626-138510626

c.4818C>GGCTTTG; p.F1606>LAL; 9:138519146-138519146

c.4855_4857TAC>GCTGCG; p.Y1619>AA; 9:138519107-138519109

c.7448C>T; p.T2483M; 9:138510564-138510564

c.4988G>T; p.R1663L; 9:138518976-138518976

c.5033T>C; p.L1678P; 9:138517589-138517589

c.7535C>T; p.P2512L; 9:138510477-138510477

c.5033T>C; p.L1678P; 9:138517589-138517589

c.5039T>A; p.I1680N; 9:138517583-138517583

c.7475C>A; p.S2492*; 9:138510537-138510537

c.6984_6985insG; p.S2329fs*25; 9:138511027-138511028

c.7051_7052insC; p.H2351fs*3; 9:138510960-138510961

c.7313_7314insCCGCT; p.S2439fs*2; 9:138510698-138510699

c.7393_7394insAT; p.P2465fs*13; 9:138510618-138510619

c.7398_7399insGG; p.S2467fs*11; 9:138510613-138510614

c.7507C>T; p.Q2503*; 9:138510505-138510505

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.4730T>A; p.V1577E; 9:138519234-138519234

c.4730T>A; p.V1577E; 9:138519234-138519234

c.4778T>C; p.L1593P; 9:138519186-138519186

c.?; p.P2515fs*4;

c.?; p.P2515fs*4;

c.?; p.P2515fs*4;

c.?; p.P2515fs*4;

c.?; p.P2515fs*4;

c.?; p.P2515fs*4;

c.?; p.P2515fs*4;

c.?; p.P2515fs*4;

c.?; p.Q2445*;

c.?; p.Q2395*;

c.5033T>C; p.L1678P; 9:138517589-138517589

c.4775_4776insGGGCCA; p.F1592>LGH; 9:138519188-138519189

c.7171C>T; p.Q2391*; 9:138510841-138510841

c.6959C>T; p.P2320L; 9:138511053-138511053

c.7168_7169insGGCCC; p.L2390fs*34; 9:138510843-138510844

c.4721T>C; p.L1574P; 9:138519243-138519243

c.4819_4821AAG>GACCCC; p.K1607>DP; 9:138519143-138519145

c.4778_4779insCCCCCT; p.L1593_R1594insPL; 9:138519185-138519186

c.4793G>C; p.R1598P; 9:138519171-138519171

c.4754T>C; p.L1585P; 9:138519210-138519210

c.4785_4790GCTCAG>TCAGGC; p.E1595_S1597>DQA; 9:138519174-138519179

c.6985_6988AGTG>GGT; p.S2329fs*7; 9:138511024-138511027

c.4715_4717GCA>TTCCTCCTG; p.G1572_T1573>VPPA; 9:138519247-138519249

c.5126T>C; p.L1709P; 9:138517496-138517496

c.6970_6979del10; p.N2324fs*9; 9:138511033-138511042

c.4799T>C; p.L1600P; 9:138519165-138519165

c.4793_4794GC>CT; p.R1598P; 9:138519170-138519171

c.7213C>T; p.Q2405*; 9:138510799-138510799

c.?; p.C1692Y;

c.?; p.T1573A;

c.4788C>G; p.L1596L;

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7444delC; p.L2482fs*1; 9:138510568-138510568

c.7444delC; p.L2482fs*1; 9:138510568-138510568

c.7444delC; p.L2482fs*1; 9:138510568-138510568

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7606G>A; p.V2536I; 9:138510406-138510406

c.?; p.Q513*;

c.?; p.G1215fs*228;

c.666C>A; p.C222*;

c.1237G>A; p.V413M;

c.936C>A; p.C312*;

c.5308_5309CC>TT; p.P1770F;

c.7318C>T; p.Q2440*; 9:138510694-138510694

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.2584C>T; p.Q862*;

c.?; p.L1601P;

c.7246C>T; p.Q2416*; 9:138510766-138510766

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7284C>G; p.H2428Q;

c.7285C>G; p.L2429V;

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.5950C>T; p.R1984*;

c.7390delC; p.L2464fs*13; 9:138510622-138510622

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7431delC; p.A2478fs*5; 9:138510581-138510581

c.7292_7293ins50; p.S2432fs*20;

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.1451G>T; p.G484V;

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.5161G>A; p.V1721M; 9:138517461-138517461

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7443delC; p.L2482fs*1; 9:138510569-138510569

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.4574A>G; p.E1525G;

c.5281C>T; p.R1761W;

c.2507G>A; p.S836N;

c.3134G>A; p.C1045Y;

c.1393G>A; p.A465T;

c.1046C>T; p.T349I;

c.2961C>A; p.C987*;

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.6541_6875del335; p.K2181fs*61; 9:138511137-138511471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.868C>T; p.Q290*;

c.7244_7271del28; p.P2415fs*11; 9:138510741-138510768

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.6482_6844del363; p.S2163_S2283del121; 9:138511168-138511530

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.1405G>T; p.D469Y;

c.7408_7426del19; p.S2470fs*1; 9:138510586-138510604

c.7020_7021insCCCC; p.S2341fs*14; 9:138510991-138510992

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.1555+3delg; p.?;

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.1664C>T; p.T555M;

c.4721T>C; p.L1574P; 9:138519243-138519243

c.7418_7419insGG; p.P2474fs*4; 9:138510593-138510594

c.4778T>C; p.L1593P; 9:138519186-138519186

c.7369C>G; p.L2457V; 9:138510643-138510643

c.7417_7418insGG; p.V2473fs*5; 9:138510594-138510595

c.4778T>C; p.L1593P; 9:138519186-138519186

c.2909C>T; p.T970I; 9:138524066-138524066

c.1405G>A; p.D469N;

c.3808G>A; p.E1270K;

c.4799T>C; p.L1600P; 9:138519165-138519165

c.4799T>C; p.L1600P; 9:138519165-138519165

c.5226C>T; p.A1742A;

c.2079C>A; p.C693*;

c.7342_7360del19; p.P2448fs*23;

c.5124G>T; p.S1708S; 9:138517498-138517498

c.3146A>T; p.Q1049L; 9:138523168-138523168

c.931_932insC; p.C312fs*19;

c.7234C>A; p.P2412T; 9:138510778-138510778

c.4780_4781ins36; p.L1593_R1594ins12; 9:138519183-138519184

c.?; p.P2413S;

c.4781_4782ins36; p.R1594_E1595ins12; 9:138519182-138519183

c.?_?ins?; p.L1594_R1595ins12;

c.6736C>T; p.H2246Y;

c.3326-3C>T; p.?;

c.7234C>A; p.P2412T; 9:138510778-138510778

c.7220G>A; p.S2407N; 9:138510792-138510792

c.4781_4782ins36; p.R1594_E1595ins12; 9:138519182-138519183

c.4781_4782ins36; p.R1594_E1595ins12; 9:138519182-138519183

c.7234C>A; p.P2412T; 9:138510778-138510778

c.7220G>A; p.S2407N; 9:138510792-138510792

c.4781_4782ins36; p.R1594_E1595ins12; 9:138519182-138519183

c.2686C>T; p.Q896*;

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7225C>T; p.Q2409*; 9:138510787-138510787

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7410delC; p.S2471fs*6; 9:138510602-138510602

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7375C>T; p.Q2459*; 9:138510637-138510637

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7330C>T; p.Q2444*; 9:138510682-138510682

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7444delC; p.L2482fs*1; 9:138510568-138510568

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7507C>T; p.Q2503*; 9:138510505-138510505

c.7371delG; p.Q2459fs*18; 9:138510641-138510641

c.6431_6443del13; p.G2144fs*100; 9:138511569-138511581

c.7568C>A; p.S2523*; 9:138510444-138510444

c.7568C>A; p.S2523*; 9:138510444-138510444

c.4675C>T; p.L1559L;

c.129G>A; p.T43T;

c.?; p.Q2460*;

c.?; p.P2506fs*6;

c.4778T>C; p.L1593P; 9:138519186-138519186

c.4778T>C; p.L1593P; 9:138519186-138519186

c.4826A>T; p.D1609V; 9:138519138-138519138

c.4826A>T; p.D1609V; 9:138519138-138519138

c.7330_7330G>TGT; p.V2444fs*35;

c.7330_7330G>TGT; p.V2444fs*35;

c.4778T>C; p.L1593P; 9:138519186-138519186

c.4778T>C; p.L1593P; 9:138519186-138519186

c.4826A>T; p.D1609V; 9:138519138-138519138

c.?; p.L1594P;

c.?_?ins?; p.D2443fs;

c.5884C>A; p.R1962S;

c.843C>T; p.C281C;

c.5161G>A; p.V1721M; 9:138517461-138517461

c.5347C>T; p.R1783W;

c.6209G>A; p.R2070Q;

c.5806G>A; p.A1936T;

c.4662C>T; p.C1554C;

c.6012C>T; p.R2004R;

c.6034G>T; p.E2012*;

c.1749C>T; p.G583G;

c.6536G>A; p.R2179Q;

c.5639-2A>G; p.?;

c.1451G>A; p.G484D;

c.365T>G; p.L122R;

c.3902-3_3903deltagGG; p.?;

c.2862C>A; p.C954*;

c.3250G>T; p.E1084*;

c.108_109delGT; p.C37fs*1;

c.1151_1174del24; p.G384_P391delGSNCDTNP;

c.1193G>T; p.C398F;

c.4906_4924del19; p.E1636fs*7;

c.1255+1G>A; p.?;

c.1039G>T; p.G347C;

c.5639-2A>G; p.?;

c.3902-3_3903deltagGG; p.?;

c.?; p.L1586P;

c.976G>A; p.G326S;

c.4721T>C; p.L1574P; 9:138519243-138519243

c.7329_7329C>12; p.D2443fs*39;

c.580A>C; p.T194P;

c.3644G>A; p.G1215D; 9:138521246-138521246

c.3644G>A; p.G1215D; 9:138521246-138521246

c.1858G>T; p.D620Y; 9:138529801-138529801

c.2080G>T; p.E694*;

c.1775G>A; p.R592H;

c.3813C>G; p.C1271W;

c.3583G>A; p.G1195R;

c.2744C>T; p.P915L;

c.1348G>A; p.E450K;

c.2434_2452del19; p.G812fs*58;

c.2434G>T; p.G812W;

c.1205C>A; p.S402*;

c.1933_1934delTG; p.A646fs*21;

c.4016G>C; p.G1339A;

c.928G>A; p.G310R;

c.1366T>C; p.C456R;

c.5529G>A; p.W1843*;

c.2842G>T; p.E948*;

c.1662C>A; p.C554*;

c.6029T>G; p.M2010R;

c.1058G>A; p.R353H;

c.6811C>T; p.P2271S; 9:138511201-138511201

c.4910G>T; p.G1637V;

c.1171C>T; p.P391S;

c.5869C>T; p.Q1957*;

c.4662delC; p.C1554fs*26;

c.1093C>T; p.R365C;

c.3835C>T; p.R1279C;

c.1093C>T; p.R365C;

c.1130delT; p.I377fs*254;

c.3873C>G; p.F1291L;

c.6113T>A; p.V2038E;

c.6112G>T; p.V2038L;

c.2014+1G>C; p.?;

c.1070_1072delTCT; p.F357delF;

c.4549G>A; p.D1517N;

c.1270G>A; p.E424K;

c.3640C>T; p.Q1214*;

c.4233C>T; p.F1411F;

c.1441G>A; p.G481S;

c.1264C>T; p.P422S;

c.5167+1G>A; p.?;

c.2155G>T; p.E719*;

c.4721T>C; p.L1574P; 9:138519243-138519243

c.7329_7329C>12; p.D2443fs*39;

c.2101A>C; p.T701P;

c.2101A>C; p.T701P;

c.1195A>C; p.T399P;

c.1359_1361delCAA; p.N454delN;

c.3494G>A; p.G1165D;

c.4799T>C; p.L1600P; 9:138519165-138519165

c.1070_1072delTCT; p.F357delF;

c.?; p.R1628Q;

c.4880G>A; p.R1627H; 9:138519084-138519084

c.2171C>T; p.P724L;

c.5220_5221ins51; p.A1740_A1741ins17; 9:138516708-138516709

c.977G>T; p.G326V;

c.5608G>A; p.D1870N;

c.?; p.A1702P;

c.?; p.N2402fs*21;

c.?; p.Y1717F;

c.?; p.L1597H;

c.5126T>C; p.L1709P; 9:138517496-138517496

c.5126T>C; p.L1709P; 9:138517496-138517496

c.6133G>A; p.V2045I;

c.5691G>A; p.T1897T;

c.5554G>A; p.D1852N;

c.5026G>A; p.V1676I;

c.1222G>A; p.A408T;

c.1100-9C>T; p.?;

c.743-6C>T; p.?;

c.7375C>T; p.Q2459*; 9:138510637-138510637

c.4799T>C; p.L1600P; 9:138519165-138519165

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7375C>T; p.Q2459*; 9:138510637-138510637

c.4799T>C; p.L1600P; 9:138519165-138519165

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.2428G>A; p.V810I;

c.2427C>G; p.D809E;

c.6055G>C; p.A2019P;

c.1087delC; p.H363fs*268;

c.829A>T; p.N277Y;

c.7244_7246delCAC; p.P2415delP;

c.6532G>T; p.A2178S;

c.6121G>T; p.V2041L;

c.4299G>T; p.G1433G;

c.1866C>T; p.D622D;

c.6937C>G; p.R2313G;

c.6273T>C; p.D2091D;

c.5192C>T; p.P1731L;

c.5185C>T; p.P1729S;

c.5511G>C; p.Q1837H;

c.7535delC; p.P2512fs*>44; 9:138510477-138510477

c.?; p.P2513L;

c.6867delC; p.S2289fs*6; 9:138511145-138511145

c.7555delC; p.Q2519fs*>37; 9:138510457-138510457

c.?; p.Q2520*;

c.7403_7404ins?; p.S2468fs*1; 9:138510611-138510612

c.?; p.L2469fs*11;

c.4825_4899del75; p.D1609_R1633del25; 9:138519065-138519139

c.7251G>?; p.Q2417*;

c.?; p.Q2417*;

c.?; p.V2444fs*27;

c.?; p.L1586P;

c.?; p.H1612_G1613>QIVVFKRDAHG;

c.?; p.P2515fs*4;

c.?; p.Q1615_M1616>L;

c.7378G>T; p.E2460*; 9:138510634-138510634

c.3262G>A; p.G1088S;

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.6322G>A; p.D2108N;

c.7519_7520insC; p.H2507fs*9;

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.775G>A; p.D259N;

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7291_7292insCT; p.R2431fs*5;

c.2744C>G; p.P915R;

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.?; p.L2458V;

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.6619C>T; p.H2207Y;

c.5033T>C; p.L1678P; 9:138517589-138517589

c.7568C>A; p.S2523*; 9:138510444-138510444

c.4799T>C; p.L1600P; 9:138519165-138519165

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.4799T>C; p.L1600P; 9:138519165-138519165

c.4799T>C; p.L1600P; 9:138519165-138519165

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.4799T>C; p.L1600P; 9:138519165-138519165

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.5561G>A; p.R1854H;

c.1286G>T; p.C429F;

c.?; p.L1601P;

c.?_?del?; p.P2515fs;

c.6566G>A; p.C2189Y;

c.5987C>T; p.T1996M; 9:138513480-138513480

c.1335G>T; p.T445T; 9:138532131-138532131

c.2003delC; p.P668fs*104;

c.1070_1072delTCT; p.F357delF;

c.4457C>T; p.P1486L;

c.5162_5163ins42; p.V1721_Q1722ins14; 9:138517459-138517460

c.?_?ins?; p.L1707_A1708ins14;

c.5161_5162ins42; p.A1720_V1721ins14; 9:138517460-138517461

c.1147G>A; p.E383K;

c.6131C>T; p.A2044V;

c.4799T>C; p.L1600P; 9:138519165-138519165

c.7469_7470insAA; p.Y2490fs*1; 9:138510542-138510543

c.4754T>C; p.L1585P; 9:138519210-138519210

c.7328_7329insGGGCATC; p.Q2444fs*65; 9:138510683-138510684

c.7250C>T; p.P2417L; 9:138510762-138510762

c.5033T>A; p.L1678Q; 9:138517589-138517589

c.4778T>C; p.L1593P; 9:138519186-138519186

c.7330C>T; p.Q2444*; 9:138510682-138510682

c.4778T>C; p.L1593P; 9:138519186-138519186

c.4748_4749ins15; p.E1583_Q1584insYPP*; 9:138519215-138519216

c.5161_5162ins12; p.V1721>APGQL; 9:138517460-138517461

c.4799T>C; p.L1600P; 9:138519165-138519165

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.4754T>C; p.L1585P; 9:138519210-138519210

c.4773_4775CTT>GAC; p.H1591_F1592>QT; 9:138519189-138519191

c.7475_7476ins12; p.P2493_V2494ins*; 9:138510536-138510537

c.4849_4851delTTC; p.F1617delF; 9:138519113-138519115

c.4787T>A; p.L1596H; 9:138519177-138519177

c.5022_5023insGGG; p.S1674_I1675insG; 9:138517599-138517600

c.7327_7328insAGGAAAAG; p.V2443fs*37; 9:138510684-138510685

c.4721T>C; p.L1574P; 9:138519243-138519243

c.4754T>C; p.L1585P; 9:138519210-138519210

c.7387delG; p.A2463fs*14; 9:138510625-138510625

c.4847T>A; p.I1616N; 9:138519117-138519117

c.7302_7303insGGGTG; p.S2435fs*2; 9:138510709-138510710

c.4768_4769insCCA; p.F1590>SI; 9:138519195-138519196

c.7535C>T; p.P2512L; 9:138510477-138510477

c.1649delA; p.Y550fs*81;

c.5105T>C; p.F1702S;

c.2583G>T; p.W861C;

c.4799T>C; p.L1600P; 9:138519165-138519165

c.4721T>C; p.L1574P; 9:138519243-138519243

c.7476_7477ins11; p.P2493fs*>67; 9:138510535-138510536

c.4721T>C; p.L1574P; 9:138519243-138519243

c.7477_7478ins11; p.P2493fs*>67; 9:138510534-138510535

c.7397C>T; p.T2466M; 9:138510615-138510615

c.5558T>C; p.L1853P;

c.4548C>T; p.F1516F;

c.4750_4751ins24; p.E1583_Q1584insPVELMPPE; 9:138519213-138519214

c.4751_4752ins24; p.Q1584>HRGADAAGA; 9:138519212-138519213

c.4751_4752ins24; p.Q1584>HRGADAAGA; 9:138519212-138519213

c.1590C>T; p.D530D;

c.1915G>A; p.E639K;

c.1093C>T; p.R365C;

c.2740+1G>T; p.?;

c.2759delG; p.G920fs*259;

c.7398delG; p.S2467fs*10;

c.?; p.S137L;

c.?; p.N1810H;

c.?; p.Q1688*;

c.?; p.R353C;

c.?; p.D1518N;

c.?; p.E415D;

c.?; p.C409F;

c.?; p.D469G;

c.4793G>C; p.R1598P; 9:138519171-138519171

c.7375C>T; p.Q2459*; 9:138510637-138510637

c.4775_4776insGGGTGC; p.F1592>LGA; 9:138519188-138519189

c.7282_7283insGC; p.H2428fs*8; 9:138510729-138510730

c.5212_5213ins102; p.M1737_Y1738ins34; 9:138516716-138516717

c.5221_5222ins108; p.A1740_A1741ins36; 9:138516707-138516708

c.5214_5215ins33; p.Y1738_V1739ins11; 9:138516714-138516715

c.5209_5210ins39; p.F1736_M1737ins13; 9:138516719-138516720

c.5221_5222ins33; p.A1740_A1741ins11; 9:138516707-138516708

c.5218_5219ins42; p.V1739_A1740ins14; 9:138516710-138516711

c.5218_5219ins45; p.A1740_A1741ins15; 9:138516710-138516711

c.5033T>C; p.L1678P; 9:138517589-138517589

c.7396_7397AC>G; p.T2466fs*11; 9:138510615-138510616

c.4818_4819ins45; p.F1606_K1607ins15; 9:138519145-138519146

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.4773_4774insTAC; p.H1591_F1592insY; 9:138519190-138519191

c.4818_4820CAA>12; p.F1606_K1607>LCPEM; 9:138519144-138519146

c.4775_4776insGAGCCC; p.F1592>LSP; 9:138519188-138519189

c.4793G>C; p.R1598P; 9:138519171-138519171

c.4727T>C; p.V1576A; 9:138519237-138519237

c.4817_4818insGAGGTTTCT; p.F1606>LRFL; 9:138519146-138519147

c.7168_7173TTACAG>20; p.L2390fs*5; 9:138510839-138510844

c.5027T>A; p.V1676D; 9:138517595-138517595

c.7003_7004insC; p.L2335fs*19; 9:138511008-138511009

c.4731_4732insGCG; p.V1577_V1578insA; 9:138519232-138519233

c.4775T>C; p.F1592S; 9:138519189-138519189

c.5033T>C; p.L1678P; 9:138517589-138517589

c.5054G>T; p.C1685F; 9:138517568-138517568

c.7457C>A; p.S2486*; 9:138510555-138510555

c.4847T>A; p.I1616N; 9:138519117-138519117

c.5033T>C; p.L1678P; 9:138517589-138517589

c.4721T>C; p.L1574P; 9:138519243-138519243

c.4721T>C; p.L1574P; 9:138519243-138519243

c.7375C>T; p.Q2459*; 9:138510637-138510637

c.4741_4746delATGCCG; p.M1581_P1582del;

c.4721T>C; p.L1574P; 9:138519243-138519243

c.6943C>T; p.Q2315*; 9:138511069-138511069

c.?; p.F1607>W

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7327_7328ins28; p.V2443fs*73; 9:138510684-138510685

c.4775T>C; p.F1592S; 9:138519189-138519189

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.4799T>C; p.L1600P; 9:138519165-138519165

c.4840C>A; p.Q1614K; 9:138519124-138519124

c.5154_5155ins72; p.I1718_E1719ins24; 9:138517467-138517468

c.4721T>A; p.L1574Q; 9:138519243-138519243

c.5033T>C; p.L1678P; 9:138517589-138517589

c.4793G>C; p.R1598P; 9:138519171-138519171

c.4754T>C; p.L1585P; 9:138519210-138519210

c.6976_6987>21; p.L2326_S2329>FPSA*; 9:138511025-138511036

c.4855T>A; p.Y1619N; 9:138519109-138519109

c.7475_7476insCTAACC; p.S2492_P2493ins*; 9:138510536-138510537

c.4754T>C; p.L1585P; 9:138519210-138519210

c.4799T>C; p.L1600P; 9:138519165-138519165

c.4721T>C; p.L1574P; 9:138519243-138519243

c.4754T>C; p.L1585P; 9:138519210-138519210

c.4776C>GGGGCCG; p.F1592>LGP; 9:138519188-138519188

c.7171C>T; p.Q2391*; 9:138510841-138510841

c.4799T>C; p.L1600P; 9:138519165-138519165

c.6988_6992GTGGC>AGG; p.V2330fs*23; 9:138511020-138511024

c.4754T>G; p.L1585R; 9:138519210-138519210

c.4818_4819insGGTTCC; p.F1606_K1607insGS; 9:138519145-138519146

c.4730T>A; p.V1577E; 9:138519236-138519236

c.4793G>C; p.R1598P; 9:138519171-138519171

c.7412_7413ins23; p.L2472fs*1; 9:138510599-138510600

c.5033T>C; p.L1678P; 9:138517589-138517589

c.4721T>C; p.L1574P; 9:138519243-138519243

c.4754T>C; p.L1585P; 9:138519210-138519210

c.4799T>A; p.L1600Q; 9:138519165-138519165

c.7326_7327insTGCCCAGC; p.V2443fs*37; 9:138510685-138510686

c.4799T>A; p.L1600Q; 9:138519165-138519165

c.?; p.F1607_K1608insLVGCGQ;

c.7421delC; p.P2474fs*3; 9:138510591-138510591

c.4830_4904del75; p.H1611_A1635del25; 9:138519060-138519134

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.4818C>ACCCCTG; p.F1606>LPL; 9:138519146-138519146

c.4781_4786delGGGAGC; p.R1594_E1595delRE; 9:138519178-138519183

c.7501C>T; p.Q2501*; 9:138510511-138510511

c.4799T>C; p.L1600P; 9:138519165-138519165

c.4778T>C; p.L1593P; 9:138519186-138519186

c.7225C>T; p.Q2409*; 9:138510787-138510787

c.4721T>C; p.L1574P; 9:138519243-138519243

c.4721T>C; p.L1574P; 9:138519243-138519243

c.4778T>C; p.L1593P; 9:138519186-138519186

c.7507C>T; p.Q2503*; 9:138510505-138510505

c.7399_7400insGG; p.S2467fs*11; 9:138510612-138510613

c.4799T>C; p.L1600P; 9:138519165-138519165

c.4793G>C; p.R1598P; 9:138519171-138519171

c.4850_4851insTAAGAA; p.F1617_P1618insKN; 9:138519113-138519114

c.4757G>C; p.R1586P; 9:138519207-138519207

c.7326_7327insCC; p.V2443fs*35; 9:138510685-138510686

c.7398_7399ins14; p.S2467fs*15; 9:138510613-138510614

c.4721T>C; p.L1574P; 9:138519243-138519243

c.4793G>C; p.R1598P; 9:138519171-138519171

c.5099C>T; p.A1700V; 9:138517523-138517523

c.4721T>C; p.L1574P; 9:138519243-138519243

c.4793G>C; p.R1598P; 9:138519171-138519171

c.4775T>G; p.F1592C; 9:138519189-138519189

c.5158_5162GCCGT>TATGG; p.A1720_V1721>YG; 9:138517460-138517464

c.4793G>C; p.R1598P; 9:138519171-138519171

c.4799T>C; p.L1600P; 9:138519165-138519165

c.5033T>C; p.L1678P; 9:138517589-138517589

c.4721T>C; p.L1574P; 9:138519243-138519243

c.7375C>T; p.Q2459*; 9:138510637-138510637

c.7021_7022insC; p.L2342fs*12; 9:138510990-138510991

c.4754T>C; p.L1585P; 9:138519210-138519210

c.7002_7004CCT>ATGGTCC; p.L2335fs*20; 9:138511008-138511010

c.4732_4734delGTG; p.V1578delV; 9:138519230-138519232

c.4799T>C; p.L1600P; 9:138519165-138519165

c.5027T>A; p.V1676D; 9:138517595-138517595

c.7295_7296insTGCCC; p.F2433fs*4; 9:138510716-138510717

c.4812_4814delGGT; p.V1605delV; 9:138519150-138519152

c.4721T>C; p.L1574P; 9:138519243-138519243

c.4754T>C; p.L1585P; 9:138519210-138519210

c.4732_4734delGTG; p.V1578delV; 9:138519230-138519232

c.7192C>T; p.Q2398*; 9:138510820-138510820

c.4799T>C; p.L1600P; 9:138519165-138519165

c.7318C>T; p.Q2440*; 9:138510694-138510694

c.7375C>T; p.Q2459*; 9:138510637-138510637

c.4858_4863TACTAC>CCTGGGGGA; p.Y1620_Y1621>PGG;

c.5033T>C; p.L1678P; 9:138517589-138517589

c.4778T>C; p.L1593P; 9:138519186-138519186

c.7180C>T; p.Q2394*; 9:138510832-138510832

c.7177C>T; p.Q2393*; 9:138510835-138510835

c.5039T>A; p.I1680N; 9:138517583-138517583

c.5101G>C; p.A1701P; 9:138517521-138517521

c.4778T>C; p.L1593P; 9:138519186-138519186

c.4747_4748insCCC; p.E1583>AQ; 9:138519216-138519217

c.4732_4734delGTG; p.V1578delV; 9:138519230-138519232

c.4732_4734delGTG; p.V1578delV; 9:138519230-138519232

c.7331_7331T>15; p.A2444fs*39;

c.4821_4825CAAGC>GG; p.F1607_R1609>LG;

c.5101G>C; p.A1701P; 9:138517521-138517521

c.6836C>T; p.A2279V; 9:138511176-138511176

c.4775T>C; p.F1592S; 9:138519189-138519189

c.7538_7539insGAGCGTC; p.P2514fs*4; 9:138510473-138510474

c.7229_7230insCC; p.P2411fs*12; 9:138510782-138510783

c.7425delC; p.V2476fs*1; 9:138510587-138510587

c.7258_7259insCC; p.G2420fs*3; 9:138510753-138510754

c.5033T>C; p.L1678P; 9:138517589-138517589

c.7326_7327ins14; p.V2443fs*39; 9:138510685-138510686

c.4799T>C; p.L1600P; 9:138519165-138519165

c.7386delC; p.A2463fs*14; 9:138510626-138510626

c.7519C>T; p.H2507Y; 9:138510493-138510493

c.7529_7538TCCTCACCCC>GA; p.F2510fs*1;

c.4799T>C; p.L1600P; 9:138519165-138519165

c.7545_7554del10; p.E2515fs*>38; 9:138510458-138510467

c.4825_4833CGTGACGCA>ACG; p.R1609_A1611>T;

c.5033T>C; p.L1678P; 9:138517589-138517589

c.4778T>C; p.L1593P; 9:138519186-138519186

c.7021_7022ins17; p.S2341fs*1; 9:138510990-138510991

c.4778T>C; p.L1593P; 9:138519186-138519186

c.4775_4776insAGC; p.F1592>LA; 9:138519188-138519189

c.4799T>C; p.L1600P; 9:138519165-138519165

c.7535_7536insC; p.S2513fs*3; 9:138510476-138510477

c.7535_7536insC; p.S2513fs*3; 9:138510476-138510477

c.4775_4776insTAAGGAGGA; p.F1592_L1593insKED; 9:138519188-138519189

c.7401_7402insGG; p.L2468fs*10; 9:138510610-138510611

c.4793G>C; p.R1598P; 9:138519171-138519171

c.7207C>T; p.Q2403*; 9:138510805-138510805

c.7480_7485CCTGTG>GGGC; p.P2494fs*13;

c.4793G>C; p.R1598P; 9:138519171-138519171

c.4618T>C; p.F1540L; 9:138519346-138519346

c.4799T>C; p.L1600P; 9:138519165-138519165

c.7183C>T; p.Q2395*; 9:138510829-138510829

c.7658C>A; p.A2553D; 9:138510354-138510354

c.4822C>A; p.R1608S; 9:138519142-138519142

c.4721T>C; p.L1574P; 9:138519243-138519243

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.5033T>C; p.L1678P; 9:138517589-138517589

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.4799T>C; p.L1600P; 9:138519165-138519165

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.7312_7313insGGGTT; p.P2438fs*41; 9:138510699-138510700

c.4817_4818ins12; p.F1606>LSMPP; 9:138519146-138519147

c.4793G>C; p.R1598P; 9:138519171-138519171

c.4793G>C; p.R1598P; 9:138519171-138519171

c.4793G>C; p.R1598P; 9:138519171-138519171

c.7313_7314insAGAAC; p.S2439fs*40; 9:138510698-138510699

c.7475C>A; p.S2492*; 9:138510537-138510537

c.4732_4734delGTG; p.V1578delV; 9:138519230-138519232

c.7516G>T; p.E2506*; 9:138510496-138510496

c.7541_7542delCT; p.P2514fs*4; 9:138510470-138510471

c.4777_4780TTCC>ACTGCG; p.F1593_F1594>TA;

c.4721T>C; p.L1574P; 9:138519243-138519243

c.7400C>A; p.S2467*; 9:138510612-138510612

c.3776T>C; p.F1259S;

c.1067_1069delCCT; p.S356delS; 9:138532894-138532896

c.7354G>A; p.A2452T; 9:138510658-138510658

c.1455G>A; p.V485V;

c.7249C>G; p.P2417A;

c.2929G>T; p.G977W;

c.2930G>A; p.G977E;

c.6112G>T; p.V2038L;

c.2631G>T; p.P877P;

c.1282A>T; p.K428*;

c.1169A>G; p.N390S;

c.1648T>A; p.Y550N;

c.7405C>T; p.P2469S;

c.7412C>A; p.S2471*; 9:138510600-138510600

c.5351G>T; p.R1784L;

c.5421C>T; p.D1807D;

c.3643G>T; p.G1215C;

c.3643+1G>T; p.?;

c.5785G>T; p.E1929*;

c.6058G>C; p.D2020H;

c.766G>C; p.E256Q;

c.2045G>T; p.C682F;

c.775G>A; p.D259N;

c.?; p.I1441T;

c.4274G>T; p.C1425F;

c.2588G>T; p.G863V;

c.890A>G; p.D297G;

c.7081C>T; p.Q2361*;

c.5154C>T; p.I1718I;

c.6979C>T; p.R2327W; 9:138511033-138511033

c.6632C>G; p.S2211*;

c.5163G>T; p.V1721V;

c.?; p.R353C;

c.?; p.C429S;

c.1057C>T; p.R353C;

c.1285T>A; p.C429S;

c.3225G>A; p.W1075*;

c.5094C>T; p.D1698D; 9:138517528-138517528

c.2459C>T; p.P820L;

c.4045G>T; p.A1349S;

c.5327C>G; p.S1776C;

c.5513C>G; p.T1838R;

c.7034G>T; p.G2345V;

c.6108C>T; p.A2036A;

c.3887G>T; p.R1296L;

c.2014G>T; p.G672W;

c.5585C>T; p.P1862L;

c.5352G>T; p.R1784R;

c.7047G>T; p.P2349P;

c.975C>T; p.N325N;

c.7559G>A; p.W2520*;

c.6423G>A; p.S2141S;

c.6979C>T; p.R2327W; 9:138511033-138511033

c.1800C>T; p.C600C;

c.4986G>A; p.R1662R;

c.6993A>G; p.A2331A;

c.4949C>A; p.A1650D;

c.5806G>A; p.A1936T;

c.6684C>A; p.S2228S;

c.5862C>T; p.A1954A;

c.5098G>A; p.A1700T;

c.7516G>T; p.E2506*; 9:138510496-138510496

c.7067C>T; p.A2356V;

c.3642G>T; p.Q1214H;

c.2300C>T; p.T767I;

c.1728C>T; p.H576H;

c.657C>T; p.Y219Y;

c.62G>T; p.G21V;

c.5806G>A; p.A1936T;

c.5852G>A; p.S1951N;

c.7321G>A; p.A2441T;

c.4825G>T; p.D1609Y;

c.6943C>A; p.Q2315K;

c.1333A>G; p.T445A;

c.4618T>C; p.F1540L; 9:138519346-138519346

c.7356G>T; p.A2452A;

c.3644-1G>T; p.?;

c.7359G>A; p.V2453V;

c.6944A>G; p.Q2315R;

c.4728G>A; p.V1576V;

c.1461C>T; p.C487C;

c.3631C>T; p.R1211W;

c.7458G>A; p.S2486S;

c.1864G>A; p.D622N;

c.5759T>C; p.L1920P;

c.4794C>T; p.R1598R;

c.7460A>T; p.Q2487L;

c.4252G>A; p.A1418T;

c.5752G>A; p.A1918T;

c.5646C>T; p.F1882F;

c.432C>T; p.C144C;

c.778G>T; p.D260Y;

c.6693C>G; p.L2231L;

c.4802A>T; p.H1601L;

c.6981G>A; p.R2327R;

c.7513C>A; p.P2505T;

c.7456T>C; p.S2486P;

c.7180C>A; p.Q2394K;

c.5093A>G; p.D1698G;

c.3945C>T; p.P1315P;

c.5445C>T; p.D1815D;

c.6284G>A; p.R2095H;

c.4733T>C; p.V1578A;

c.5272C>A; p.R1758S;

c.5242T>C; p.F1748L;

c.5124G>A; p.S1708S;

c.4473G>A; p.T1491T;

c.5195C>T; p.A1732V;

c.3471G>A; p.G1157G;

c.5154C>T; p.I1718I;

c.453C>T; p.N151N;

c.7314G>A; p.P2438P;

c.4774T>C; p.F1592L; 9:138519190-138519190

c.3490C>T; p.L1164L;

c.6979C>T; p.R2327W; 9:138511033-138511033

c.4788C>T; p.L1596L;

c.7516G>A; p.E2506K;

c.7508A>G; p.Q2503R;

c.5819G>A; p.R1940H;

c.7509G>T; p.Q2503H;

c.192C>T; p.L64L;

c.5028C>T; p.V1676V;

c.6107C>T; p.A2036V;

c.5697C>T; p.N1899N;

c.3635G>A; p.G1212D;

c.7321_7322insGAGCCAGG; p.A2441fs*39;

c.7313_7314insAGG; p.P2438_S2439insG;

c.5837G>A; p.R1946H;

c.2644G>A; p.A882T;

c.475G>A; p.E159K;

c.4828G>A; p.A1610T; 9:138519136-138519136

c.7396A>G; p.T2466A;

c.1746C>T; p.D582D;

c.7562C>T; p.S2521F;

c.5094C>T; p.D1698D; 9:138517528-138517528

c.7519C>A; p.H2507N;

c.5094C>T; p.D1698D; 9:138517528-138517528

c.7194G>A; p.Q2398Q;

c.5011G>A; p.V1671I; 9:138518953-138518953

c.2860T>C; p.C954R;

c.5784C>T; p.G1928G;

c.3901G>A; p.G1301R;

c.1392C>T; p.D464D;

c.1077C>T; p.C359C;

c.4451A>T; p.N1484I;