| c.1_4509del |
na |
0 |
na |
| c.1_4511del |
na |
0 |
na |
| c.1-139C>T |
na |
1 |
1.47741E-05 |
| c.1091C>G |
p.Thr364Arg |
1 |
1.9668E-10 |
| c.1132C>T |
p.Gln378* |
1 |
4.18592E-77 |
| c.113G>C |
p.Trp38Ser |
1 |
0.020424712 |
| c.1145G>A |
p.Arg382Gln |
1 |
0.007622522 |
| c.1160G>T |
p.Gly387Val |
1 |
0.007624972 |
| c.117_118insC |
p.Met42Hisfs*59 |
1 |
0.003848199 |
| c.1171A>G |
p.Arg391Gly |
1 |
4.81245E-05 |
| c.1174A>G |
p.Lys392Glu |
1 |
0.020059473 |
| c.1175A>G |
p.Lys392Arg |
1 |
0.020060415 |
| c.1194C>G |
p.Ser398Arg |
1 |
0.003848199 |
| c.1199C>T |
p.Ser400Phe |
1 |
0.025326375 |
| c.1220G>A |
p.Gly407Asp |
0 |
na |
| c.1220G>T |
p.Gly407Val |
1 |
0.003848199 |
| c.1233T>G |
p.Asn411Lys |
1 |
0.003848199 |
| c.1255C>T |
p.Arg419Trp |
1 |
0.007705188 |
| c.1256G>A |
p.Arg419Gln |
1 |
4.44392E-05 |
| c.1258C>G |
p.Lys420Val |
1 |
0.023534912 |
| c.1284C>G |
p.Asn428Lys |
1 |
0.003848199 |
| c.1308G>A |
p.Trp436* |
1 |
5.65884E-08 |
| c.1318T>G |
p.Cys440Gly |
1 |
0.003848199 |
| c.1339_2415del |
na |
0 |
na |
| c.1355C>A |
p.Ala452Asp |
1 |
0.05462105 |
| c.1396A>T |
p.Asn466Tyr |
1 |
0.003848199 |
| c.1460G>A |
p.Arg487Gln |
1 |
0.003809677 |
| c.1465C>T |
p.Arg489Trp |
1 |
1.44798E-05 |
| c.1484T>A |
p.Leu495His |
1 |
3.96534E-16 |
| c.1498A>C |
p.Thr500Pro |
1 |
0.003848199 |
| c.1526C>G |
p.Ala509Gly |
1 |
0.019997784 |
| c.1552C>T |
p.Arg518* |
1 |
1.72657E-75 |
| c.1553G>A |
p.Arg518Gln |
1 |
6.25998E-126 |
| c.1563G>C |
p.Glu521Asp |
1 |
0.003848199 |
| c.1674delC |
p.Glu559Argfs*4 |
1 |
0.003848199 |
| c.1712_1713del |
p.Leu571Hisfs*28 |
1 |
1.47741E-05 |
| c.171A>G |
na |
1 |
0.003848199 |
| c.1741C>T |
p.Gln581* |
1 |
1.47741E-05 |
| c.175_179del |
na |
1 |
0.003848199 |
| c.1779+1G>A |
na |
1 |
0.003848199 |
| c.1779+1G>C |
na |
1 |
0.007689093 |
| c.1798C>T |
p.Arg600Cys |
1 |
1.3271E-06 |
| c.1799G>A |
p.Arg600His |
1 |
0.011454263 |
| c.1857_1858insC |
p.Ser620Leufs*121 |
1 |
0.003848199 |
| c.1857dupC |
p.Ser620Leufs*121 |
1 |
5.65884E-08 |
| c.1868_1943del |
na |
0 |
na |
| c.1868-5T>G |
na |
1 |
2.91446E-13 |
| c.1901C>T |
p.Ala634Val |
1 |
0.003848199 |
| c.1943+2T>C |
na |
1 |
0.003848199 |
| c.1961C>T |
p.Pro654Leu |
1 |
0.01163233 |
| c.196dupT |
p.Ser66Phefs*35 |
1 |
2.16239E-10 |
| c.1987G>A |
p.Gly663Ser |
1 |
4.52226E-05 |
| c.1987G>T |
p.Gly663Cys |
1 |
0.011631063 |
| c.1995delG |
p.Ala667Glnfs*21 |
1 |
0.003848199 |
| c.1996G>T |
p.Gly666Arg |
1 |
0.003848199 |
| c.1999delG |
p.Ala667Glnfs*21 |
1 |
4.66314E-27 |
| c.2018T>C |
p.Leu673Pro |
1 |
2.02718E-06 |
| c.2093A>C |
p.Gln698Pro |
1 |
0.003848199 |
| c.2095G>A |
p.Glu699Lys |
1 |
0.054600101 |
| c.2153A>G |
p.Asp718Gly |
1 |
0.027660815 |
| c.2237_2238delTTinsGGTGCAGAGTTTG |
p.Ile746Argfs*10 |
1 |
0.003848199 |
| c.2247+1G>A |
na |
1 |
5.45452E-07 |
| c.2248-2_2248-1delAG |
na |
1 |
2.16239E-10 |
| c.2263G>A |
p.Gly755Arg |
1 |
2.16868E-06 |
| c.2264G>A |
p.Gly755Glu |
1 |
0.003848199 |
| c.2266G>A |
p.Gly756Ser |
0 |
0.002253878 |
| c.2278C>T |
p.Arg760Trp |
1 |
5.50369E-10 |
| c.2279G>A |
p.Arg760Gln |
1 |
1.47379E-05 |
| c.2293C>T |
p.Arg765Trp |
1 |
0.003826816 |
| c.2294G>A |
p.Arg765Gln |
1 |
4.43098E-09 |
| c.2304C>A |
p.Tyr768* |
1 |
5.65884E-08 |
| c.2307_2308insA |
p.Ala771Glyfs*8 |
1 |
0.003848199 |
| c.2329G>A |
p.Asp777Asn |
1 |
3.13532E-15 |
| c.2338delC |
p.Leu780Trpfs*31 |
1 |
0.003848199 |
| c.2342C>T |
p.Ala781Val |
1 |
0.020023416 |
| c.2359G>A |
p.Val787Ile |
1 |
0.010198425 |
| c.2379C>G |
p.Asn793Lys |
1 |
0.003848199 |
| c.2383G>T |
p.Val795Phe |
1 |
1.47741E-05 |
| c.2419C>T |
p.Arg807Trp |
1 |
9.70152E-15 |
| c.2420G>A |
p.Arg807Gln |
1 |
4.28502E-08 |
| c.2428G>A |
p.Val810Met |
1 |
0.013373444 |
| c.2458G>C |
p.Ala820Pro |
1 |
0.015149091 |
| c.2477T>C |
p.Leu826Pro |
1 |
0.003808657 |
| c.2504G>A |
p.Gly835Asp |
1 |
0.015147479 |
| c.2667_2787del |
na |
0 |
na |
| c.2678C>A |
p.Ser893* |
1 |
1.47741E-05 |
| c.2728_2746dup19 |
p.Trp918* |
1 |
0.003848199 |
| c.2728_2746dupTGGATGACCCTGACAGGGC |
p.Trp918* |
0 |
na |
| c.275G>A |
p.Trp92* |
1 |
0.003848199 |
| c.2787+1G>T |
na |
1 |
1.37355E-24 |
| c.2788_4208del |
na |
0 |
na |
| c.2831C>T |
p.Thr944Ile |
1 |
1.47741E-05 |
| c.2836_2860delinsTCTGCCTCT |
p.Leu946Serfs*18 |
1 |
0.003848199 |
| c.2836C>A |
p.Leu946Ile |
0 |
0.075771273 |
| c.2836dupC |
p.Leu946Profs*92 |
1 |
0.003848199 |
| c.2848G>A |
p.Ala950Thr |
1 |
0.057825092 |
| c.2861_2866del6 |
p.Phe954_Leu955del |
0 |
na |
| c.2890c>T |
p.Arg964Trp |
1 |
0.003848199 |
| c.2900G>A |
p.Trp967* |
1 |
0.003848199 |
| c.2912G>A |
p.Trp971* |
0 |
na |
| c.2974G>C |
p.Gly992Arg |
1 |
0.003848199 |
| c.2996_3506del |
na |
0 |
na |
| c.2996_4208del |
na |
0 |
na |
| c.3074T>C |
p.Leu1025Pro |
1 |
0.003848199 |
| c.3088C>T |
p.Arg1030* |
1 |
1.68941E-29 |
| c.31_32insG |
p.Gln11Argfs*10 |
1 |
0.003848199 |
| c.3109G>A |
p.Glu1037Lys |
0 |
na |
| c.3124G>A |
p.Gly1042Ser |
0 |
na |
| c.3142_3144delTTC |
p.Phe1048del |
0 |
na |
| c.3188T>G |
p.Leu1063Arg |
1 |
3.98369E-16 |
| c.3307_3882del |
na |
0 |
na |
| c.3340C>T |
p.Arg1114Cys |
1 |
5.2798E-11 |
| c.3341G>A |
p.Arg1114His |
1 |
6.3315E-10 |
| c.3364delT |
p.Ser1122Leufs*33 |
1 |
2.16239E-10 |
| c.3380T>C |
p.Met1127Thr |
1 |
5.65884E-08 |
| c.3389C>T |
p.Thr1130Met |
1 |
2.21786E-07 |
| c.3398G>A |
p.Gly1133Asp |
1 |
0.003848199 |
| c.3412C>T |
p.Arg1138Trp |
1 |
8.76568E-26 |
| c.3413G>A |
p.Arg1138Gln |
1 |
8.75289E-23 |
| c.3421C>T |
p.Arg1141* |
1 |
0 |
| c.3437T>C |
p.Phe1146Ser |
1 |
1.47741E-05 |
| c.346-6G>A |
na |
0 |
2.01225E-07 |
| c.3490C>T |
p.Arg1164* |
1 |
1.46127E-22 |
| c.3491G>A |
p.Arg1164Gln |
1 |
0.000143969 |
| c.3506+2_3506+5delTAGG |
na |
1 |
0.003848199 |
| c.3506+2T>C |
na |
0 |
na |
| c.3507_3882del |
na |
0 |
na |
| c.3507-3C>A |
na |
1 |
0.003848199 |
| c.3507-3C>T |
na |
0 |
0.860068219 |
| c.3542G>A |
p.Gly1181Asp |
1 |
0.010070283 |
| c.3544dupC |
p.Leu1182Profs*96 |
1 |
0.003848199 |
| c.3563C>G |
p.Thr1188Arg |
1 |
0.003848199 |
| c.36+1dupG |
na |
0 |
na |
| c.36+1G>C |
na |
1 |
2.16239E-10 |
| c.3614_3615delCT |
p.Ser1205Cysfs*72 |
1 |
0.001315667 |
| c.3633+1G>A |
na |
1 |
0.003848199 |
| c.3661C>T |
p.Arg1221Cys |
1 |
3.74887E-07 |
| c.3662G>A |
p.Arg1221His |
1 |
0.000214911 |
| c.3669G>A |
p.Trp1223* |
1 |
1.47741E-05 |
| c.3673delG |
p.Asp1225Thrfs*2 |
1 |
0.003848199 |
| c.3677T>C |
p.Leu1226Pro |
0 |
4.33002E-05 |
| c.37_219del |
na |
0 |
na |
| c.37_2995del |
na |
0 |
na |
| c.37_4403del |
na |
0 |
na |
| c.37_474del |
na |
0 |
na |
| c.3700G>A |
p.Glu1234Lys |
1 |
0.003848199 |
| c.3709C>T |
p.Gln1237* |
1 |
8.28883E-05 |
| c.3712G>T |
p.Asp1238Tyr |
1 |
5.65884E-08 |
| c.3735G>A |
p.Glu1245= |
1 |
0.003848199 |
| c.3736_3882del |
na |
0 |
na |
| c.3736-1G>A |
na |
1 |
9.03607E-33 |
| c.373G>A |
p.Glu125Lys |
1 |
0.003848199 |
| c.3774_3775insC |
p.Trp1259Leufs*19 |
1 |
8.24366E-13 |
| c.3775delT |
p.Trp1259Glyfs*14 |
1 |
3.91614E-08 |
| c.3787G>A |
p.Gly1263Arg |
1 |
0.023338296 |
| c.3803G>A |
p.Arg1268Gln |
0 |
1.0254E-59 |
| c.3816_3828dup |
p.Glu1277Lysfs*5 |
1 |
0.003848199 |
| c.3823_3871del |
p.Arg1275_His1290del |
0 |
na |
| c.3823C>T |
p.Arg1275* |
1 |
0.006716035 |
| c.3871delG |
p.Ala1291Glnfs*68 |
1 |
1.47741E-05 |
| c.3880_3882delAAG |
p.Lys1294del |
1 |
1.09739E-06 |
| c.3883-6G>A |
na |
1 |
0.000551597 |
| c.3887G>A |
p.Gly1296Asp |
1 |
0.027747092 |
| c.3902C>T |
p.Thr1301Ile |
1 |
2.16239E-10 |
| c.3904G>A |
p.Gly1302Arg |
1 |
7.29117E-11 |
| c.3907G>C |
p.Ala1303Pro |
1 |
4.50322E-20 |
| c.3940C>T |
p.Arg1314Trp |
1 |
3.01003E-13 |
| c.3941G>A |
p.Arg1314Gln |
1 |
1.07391E-14 |
| c.3979G>A |
p.Gly1327Arg |
1 |
0.104957344 |
| c.3980G>A |
p.Gly1327Glu |
1 |
0.037230353 |
| c.3989T>C |
p.Ile1330Thr |
1 |
0.017972879 |
| c.4004T>C |
p.Leu1335Pro |
0 |
na |
| c.4015C>T |
p.Arg1339Cys |
1 |
1.68848E-08 |
| c.4016G>A |
p.Arg1339His |
1 |
0.054831427 |
| c.4036C>T |
p.Pro1346Ser |
1 |
0.003848199 |
| c.4041G>A |
p.(=) |
1 |
0.011669843 |
| c.4042-2A>G |
na |
0 |
na |
| c.4060G>C |
p.Gly1354Arg |
1 |
0.003848199 |
| c.4070G>C |
p.Arg1357Pro |
1 |
0.003848199 |
| c.4081G>A |
p.Asp1361Asn |
1 |
0.010208638 |
| c.4104delC |
p.Asp1368Glufs*35 |
1 |
3.85299E-15 |
| c.4153G>C |
p.Ala1385Pro |
1 |
0.003848199 |
| c.4171_4172insCTGCCCGGCCAGC |
p.Leu1391Profs*11 |
1 |
1.47741E-05 |
| c.4182delG |
p.Lys1394Asnfs*9 |
1 |
3.87097E-11 |
| c.4192C>T |
p.Arg1398* |
1 |
4.46743E-05 |
| c.4198G>A |
p.Glu1400Lys |
1 |
5.31608E-31 |
| c.4208+1G>A |
na |
1 |
0.003848199 |
| c.4209_4403del |
na |
0 |
na |
| c.4209_4509del |
na |
0 |
na |
| c.4209C>A |
p.Ser1403Arg |
1 |
0.003848199 |
| c.4213G>A |
p.Gly1405Ser |
1 |
0.003848199 |
| c.4318delA |
p.Met1440Cysfs*24 |
1 |
1.47741E-05 |
| c.4361T>C |
p.Leu1454Pro |
1 |
0.003848199 |
| c.4376G>A |
p.Arg1459His |
1 |
0.006816384 |
| c.4403G>A |
p.Arg1468Gln |
1 |
0.006888521 |
| c.4448C>T |
p.Pro1483Leu |
1 |
0.022860957 |
| c.46C>T |
p.Gln16* |
1 |
0.003848199 |
| c.557delT |
p.Leu186Argfs*46 |
1 |
5.73788E-05 |
| c.600+1G>A |
na |
1 |
0.000175334 |
| c.613G>T |
p.Glu205* |
1 |
1.47741E-05 |
| c.663_794del |
na |
0 |
na |
| c.793A>G |
p.Arg265Gly |
0 |
6.40733E-11 |
| c.794+1G>A |
na |
1 |
1.47741E-05 |
| c.913C>T |
p.Gln305* |
1 |
4.35808E-05 |
| c.940G>A |
p.Gly314Arg |
1 |
5.65884E-08 |
| c.951C>A |
p.Ser317Arg |
1 |
4.40261E-11 |
| c.956T>A |
p.Ile319Asn |
1 |
0.003848199 |
| c.960delC |
p.Ser321Valfs*35 |
1 |
0.003848199 |
| c.989delA |
p.Lys330Serfs*26 |
1 |
1.47741E-05 |
| c.998+2_998+3delTG |
na |
1 |
0.007643672 |
| c.999_1176del |
na |
0 |
na |
| c.999_1338del |
na |
0 |
na |
