| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.173903900_173903911del | CA2586967697 | SERPINC1 | c.1373_1384del (p.Val458_Cys462delinsGly) c.758_769del (p.Val253_Cys257delinsGly) c.1229_1240del (p.Val410_Cys414delinsGly) c.1496_1507del (p.Val499_Cys503delinsGly) c.1454_1465del (p.Val485_Cys489delinsGly) c.1352_1363del (p.Val451_Cys455delinsGly) c.1316_1327del (p.Val439_Cys443delinsGly) c.1157_1168del (p.Val386_Cys390delinsGly) | |
| 1 | g.173903901_173903909del | CA2582342991 | SERPINC1 | c.1375_1383del (p.Ala459_Pro461del) c.760_768del (p.Ala254_Pro256del) c.1231_1239del (p.Ala411_Pro413del) c.1498_1506del (p.Ala500_Pro502del) c.1456_1464del (p.Ala486_Pro488del) c.1354_1362del (p.Ala452_Pro454del) c.1318_1326del (p.Ala440_Pro442del) c.1159_1167del (p.Ala387_Pro389del) | |
| 1 | g.173903903_173903911del | CA2499214317 | SERPINC1 | c.1373_1381del (p.Val458_Pro461delinsAla) c.758_766del (p.Val253_Pro256delinsAla) c.1229_1237del (p.Val410_Pro413delinsAla) c.1496_1504del (p.Val499_Pro502delinsAla) c.1454_1462del (p.Val485_Pro488delinsAla) c.1352_1360del (p.Val451_Pro454delinsAla) c.1316_1324del (p.Val439_Pro442delinsAla) c.1157_1165del (p.Val386_Pro389delinsAla) | ClinVar dbSNP |
| 1 | g.173903907G>A | CA421821208 | SERPINC1 | c.1377C>T (p.Ala459=) c.762C>T (p.Ala254=) c.1233C>T (p.Ala411=) c.1500C>T (p.Ala500=) c.1458C>T (p.Ala486=) c.1356C>T (p.Ala452=) c.1320C>T (p.Ala440=) c.1161C>T (p.Ala387=) | |
| 1 | g.173903907G>C | CA421821205 | SERPINC1 | c.1377C>G (p.Ala459=) c.762C>G (p.Ala254=) c.1233C>G (p.Ala411=) c.1500C>G (p.Ala500=) c.1458C>G (p.Ala486=) c.1356C>G (p.Ala452=) c.1320C>G (p.Ala440=) c.1161C>G (p.Ala387=) | |
| 1 | g.173903907G>T | CA421821204 | SERPINC1 | c.1377C>A (p.Ala459=) c.762C>A (p.Ala254=) c.1233C>A (p.Ala411=) c.1500C>A (p.Ala500=) c.1458C>A (p.Ala486=) c.1356C>A (p.Ala452=) c.1320C>A (p.Ala440=) c.1161C>A (p.Ala387=) | |
| 1 | g.173903908del | CA2580060415 | SERPINC1 | c.1377del (p.Asn460ThrfsTer20) c.762del (p.Asn255ThrfsTer20) c.1233del (p.Asn412ThrfsTer20) c.1500del (p.Asn501ThrfsTer20) c.1458del (p.Asn487ThrfsTer20) c.1356del (p.Asn453ThrfsTer20) c.1320del (p.Asn441ThrfsTer20) c.1161del (p.Asn388ThrfsTer20) | |
| 1 | g.173903908G>A | CA343772062 | SERPINC1 | c.1376C>T (p.Ala459Val) c.761C>T (p.Ala254Val) c.1232C>T (p.Ala411Val) c.1499C>T (p.Ala500Val) c.1457C>T (p.Ala486Val) c.1355C>T (p.Ala452Val) c.1319C>T (p.Ala440Val) c.1160C>T (p.Ala387Val) | gnomAD v4 |
| 1 | g.173903908G>C | CA343772064 | SERPINC1 | c.1376C>G (p.Ala459Gly) c.761C>G (p.Ala254Gly) c.1232C>G (p.Ala411Gly) c.1499C>G (p.Ala500Gly) c.1457C>G (p.Ala486Gly) c.1355C>G (p.Ala452Gly) c.1319C>G (p.Ala440Gly) c.1160C>G (p.Ala387Gly) | |
| 1 | g.173903908G= | CA1207934360 | SERPINC1 | c.1376C= (p.Ala459=) c.761C= (p.Ala254=) c.1232C= (p.Ala411=) c.1499C= (p.Ala500=) c.1457C= (p.Ala486=) c.1355C= (p.Ala452=) c.1319C= (p.Ala440=) c.1160C= (p.Ala387=) | |
| 1 | g.173903908G>T | CA343772066 | SERPINC1 | c.1376C>A (p.Ala459Asp) c.761C>A (p.Ala254Asp) c.1232C>A (p.Ala411Asp) c.1499C>A (p.Ala500Asp) c.1457C>A (p.Ala486Asp) c.1355C>A (p.Ala452Asp) c.1319C>A (p.Ala440Asp) c.1160C>A (p.Ala387Asp) | ClinVar dbSNP |
| 1 | g.173903909C>A | CA343772070 | SERPINC1 | c.1375G>T (p.Ala459Ser) c.760G>T (p.Ala254Ser) c.1231G>T (p.Ala411Ser) c.1498G>T (p.Ala500Ser) c.1456G>T (p.Ala486Ser) c.1354G>T (p.Ala452Ser) c.1318G>T (p.Ala440Ser) c.1159G>T (p.Ala387Ser) | |
| 1 | g.173903909C>G | CA343772072 | SERPINC1 | c.1375G>C (p.Ala459Pro) c.760G>C (p.Ala254Pro) c.1231G>C (p.Ala411Pro) c.1498G>C (p.Ala500Pro) c.1456G>C (p.Ala486Pro) c.1354G>C (p.Ala452Pro) c.1318G>C (p.Ala440Pro) c.1159G>C (p.Ala387Pro) | |
| 1 | g.173903909C>T | CA343772068 | SERPINC1 | c.1375G>A (p.Ala459Thr) c.760G>A (p.Ala254Thr) c.1231G>A (p.Ala411Thr) c.1498G>A (p.Ala500Thr) c.1456G>A (p.Ala486Thr) c.1354G>A (p.Ala452Thr) c.1318G>A (p.Ala440Thr) c.1159G>A (p.Ala387Thr) | |
| 1 | g.173903910T>A | CA421821219 | SERPINC1 | c.1374A>T (p.Val458=) c.759A>T (p.Val253=) c.1230A>T (p.Val410=) c.1497A>T (p.Val499=) c.1455A>T (p.Val485=) c.1353A>T (p.Val451=) c.1317A>T (p.Val439=) c.1158A>T (p.Val386=) | |
| 1 | g.173903910T>C | CA421821220 | SERPINC1 | c.1374A>G (p.Val458=) c.759A>G (p.Val253=) c.1230A>G (p.Val410=) c.1497A>G (p.Val499=) c.1455A>G (p.Val485=) c.1353A>G (p.Val451=) c.1317A>G (p.Val439=) c.1158A>G (p.Val386=) | gnomAD v4 |
| 1 | g.173903910T>G | CA421821224 | SERPINC1 | c.1374A>C (p.Val458=) c.759A>C (p.Val253=) c.1230A>C (p.Val410=) c.1497A>C (p.Val499=) c.1455A>C (p.Val485=) c.1353A>C (p.Val451=) c.1317A>C (p.Val439=) c.1158A>C (p.Val386=) | |
| 1 | g.173903911A= | CA1207934361 | SERPINC1 | c.1373T= (p.Val458=) c.758T= (p.Val253=) c.1229T= (p.Val410=) c.1496T= (p.Val499=) c.1454T= (p.Val485=) c.1352T= (p.Val451=) c.1316T= (p.Val439=) c.1157T= (p.Val386=) | |
| 1 | g.173903911A>C | CA343772074 | SERPINC1 | c.1373T>G (p.Val458Gly) c.758T>G (p.Val253Gly) c.1229T>G (p.Val410Gly) c.1496T>G (p.Val499Gly) c.1454T>G (p.Val485Gly) c.1352T>G (p.Val451Gly) c.1316T>G (p.Val439Gly) c.1157T>G (p.Val386Gly) | |
| 1 | g.173903911A>G | CA1251211 | SERPINC1 | c.1373T>C (p.Val458Ala) c.758T>C (p.Val253Ala) c.1229T>C (p.Val410Ala) c.1496T>C (p.Val499Ala) c.1454T>C (p.Val485Ala) c.1352T>C (p.Val451Ala) c.1316T>C (p.Val439Ala) c.1157T>C (p.Val386Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173903911A>T | CA343772075 | SERPINC1 | c.1373T>A (p.Val458Glu) c.758T>A (p.Val253Glu) c.1229T>A (p.Val410Glu) c.1496T>A (p.Val499Glu) c.1454T>A (p.Val485Glu) c.1352T>A (p.Val451Glu) c.1316T>A (p.Val439Glu) c.1157T>A (p.Val386Glu) | |
| 1 | g.173903912C>A | CA343772077 | SERPINC1 | c.1372G>T (p.Val458Leu) c.757G>T (p.Val253Leu) c.1228G>T (p.Val410Leu) c.1495G>T (p.Val499Leu) c.1453G>T (p.Val485Leu) c.1351G>T (p.Val451Leu) c.1315G>T (p.Val439Leu) c.1156G>T (p.Val386Leu) | |
| 1 | g.173903912C>G | CA343772081 | SERPINC1 | c.1372G>C (p.Val458Leu) c.757G>C (p.Val253Leu) c.1228G>C (p.Val410Leu) c.1495G>C (p.Val499Leu) c.1453G>C (p.Val485Leu) c.1351G>C (p.Val451Leu) c.1315G>C (p.Val439Leu) c.1156G>C (p.Val386Leu) | |
| 1 | g.173903912C>T | CA343772083 | SERPINC1 | c.1372G>A (p.Val458Ile) c.757G>A (p.Val253Ile) c.1228G>A (p.Val410Ile) c.1495G>A (p.Val499Ile) c.1453G>A (p.Val485Ile) c.1351G>A (p.Val451Ile) c.1315G>A (p.Val439Ile) c.1156G>A (p.Val386Ile) | |
| 1 | g.173903913T>A | CA343772088 | SERPINC1 | c.1371A>T (p.Arg457Ser) c.756A>T (p.Arg252Ser) c.1227A>T (p.Arg409Ser) c.1494A>T (p.Arg498Ser) c.1452A>T (p.Arg484Ser) c.1350A>T (p.Arg450Ser) c.1314A>T (p.Arg438Ser) c.1155A>T (p.Arg385Ser) | |
| 1 | g.173903913T>C | CA1251212 | SERPINC1 | c.1371A>G (p.Arg457=) c.756A>G (p.Arg252=) c.1227A>G (p.Arg409=) c.1494A>G (p.Arg498=) c.1452A>G (p.Arg484=) c.1350A>G (p.Arg450=) c.1314A>G (p.Arg438=) c.1155A>G (p.Arg385=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173903913T>G | CA343772086 | SERPINC1 | c.1371A>C (p.Arg457Ser) c.756A>C (p.Arg252Ser) c.1227A>C (p.Arg409Ser) c.1494A>C (p.Arg498Ser) c.1452A>C (p.Arg484Ser) c.1350A>C (p.Arg450Ser) c.1314A>C (p.Arg438Ser) c.1155A>C (p.Arg385Ser) | |
| 1 | g.173903913T= | CA1207934362 | SERPINC1 | c.1371A= (p.Arg457=) c.756A= (p.Arg252=) c.1227A= (p.Arg409=) c.1494A= (p.Arg498=) c.1452A= (p.Arg484=) c.1350A= (p.Arg450=) c.1314A= (p.Arg438=) c.1155A= (p.Arg385=) | |
| 1 | g.173903914C>A | CA343772090 | SERPINC1 | c.1370G>T (p.Arg457Ile) c.755G>T (p.Arg252Ile) c.1226G>T (p.Arg409Ile) c.1493G>T (p.Arg498Ile) c.1451G>T (p.Arg484Ile) c.1349G>T (p.Arg450Ile) c.1313G>T (p.Arg438Ile) c.1154G>T (p.Arg385Ile) | |
| 1 | g.173903914C= | CA1148869223 | SERPINC1 | c.1370G= (p.Arg457=) c.755G= (p.Arg252=) c.1226G= (p.Arg409=) c.1493G= (p.Arg498=) c.1451G= (p.Arg484=) c.1349G= (p.Arg450=) c.1313G= (p.Arg438=) c.1154G= (p.Arg385=) | |
| 1 | g.173903914C>G | CA343772092 | SERPINC1 | c.1370G>C (p.Arg457Thr) c.755G>C (p.Arg252Thr) c.1226G>C (p.Arg409Thr) c.1493G>C (p.Arg498Thr) c.1451G>C (p.Arg484Thr) c.1349G>C (p.Arg450Thr) c.1313G>C (p.Arg438Thr) c.1154G>C (p.Arg385Thr) | |
| 1 | g.173903914C>T | CA1251213 | SERPINC1 | c.1370G>A (p.Arg457Lys) c.755G>A (p.Arg252Lys) c.1226G>A (p.Arg409Lys) c.1493G>A (p.Arg498Lys) c.1451G>A (p.Arg484Lys) c.1349G>A (p.Arg450Lys) c.1313G>A (p.Arg438Lys) c.1154G>A (p.Arg385Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.173903915T>A | CA343772093 | SERPINC1 | c.1369A>T (p.Arg457Ter) c.754A>T (p.Arg252Ter) c.1225A>T (p.Arg409Ter) c.1492A>T (p.Arg498Ter) c.1450A>T (p.Arg484Ter) c.1348A>T (p.Arg450Ter) c.1312A>T (p.Arg438Ter) c.1153A>T (p.Arg385Ter) | |
| 1 | g.173903915T>C | CA343772094 | SERPINC1 | c.1369A>G (p.Arg457Gly) c.754A>G (p.Arg252Gly) c.1225A>G (p.Arg409Gly) c.1492A>G (p.Arg498Gly) c.1450A>G (p.Arg484Gly) c.1348A>G (p.Arg450Gly) c.1312A>G (p.Arg438Gly) c.1153A>G (p.Arg385Gly) | |
| 1 | g.173903915T>G | CA421821245 | SERPINC1 | c.1369A>C (p.Arg457=) c.754A>C (p.Arg252=) c.1225A>C (p.Arg409=) c.1492A>C (p.Arg498=) c.1450A>C (p.Arg484=) c.1348A>C (p.Arg450=) c.1312A>C (p.Arg438=) c.1153A>C (p.Arg385=) | |
| 1 | g.173903916G>A | CA421821247 | SERPINC1 | c.1368C>T (p.Gly456=) c.753C>T (p.Gly251=) c.1224C>T (p.Gly408=) c.1491C>T (p.Gly497=) c.1449C>T (p.Gly483=) c.1347C>T (p.Gly449=) c.1311C>T (p.Gly437=) c.1152C>T (p.Gly384=) | |
| 1 | g.173903916G>C | CA421821248 | SERPINC1 | c.1368C>G (p.Gly456=) c.753C>G (p.Gly251=) c.1224C>G (p.Gly408=) c.1491C>G (p.Gly497=) c.1449C>G (p.Gly483=) c.1347C>G (p.Gly449=) c.1311C>G (p.Gly437=) c.1152C>G (p.Gly384=) | |
| 1 | g.173903916G>T | CA421821251 | SERPINC1 | c.1368C>A (p.Gly456=) c.753C>A (p.Gly251=) c.1224C>A (p.Gly408=) c.1491C>A (p.Gly497=) c.1449C>A (p.Gly483=) c.1347C>A (p.Gly449=) c.1311C>A (p.Gly437=) c.1152C>A (p.Gly384=) | |
| 1 | g.173903916_173903917delinsTGTAG | CA2586967698 | SERPINC1 | c.1367_1368delinsCTACA (p.Gly456delinsAlaThr) c.752_753delinsCTACA (p.Gly251delinsAlaThr) c.1223_1224delinsCTACA (p.Gly408delinsAlaThr) c.1490_1491delinsCTACA (p.Gly497delinsAlaThr) c.1448_1449delinsCTACA (p.Gly483delinsAlaThr) c.1346_1347delinsCTACA (p.Gly449delinsAlaThr) c.1310_1311delinsCTACA (p.Gly437delinsAlaThr) c.1151_1152delinsCTACA (p.Gly384delinsAlaThr) | |
| 1 | g.173903917C>A | CA343772100 | SERPINC1 | c.1367G>T (p.Gly456Val) c.752G>T (p.Gly251Val) c.1223G>T (p.Gly408Val) c.1490G>T (p.Gly497Val) c.1448G>T (p.Gly483Val) c.1346G>T (p.Gly449Val) c.1310G>T (p.Gly437Val) c.1151G>T (p.Gly384Val) | |
| 1 | g.173903917C= | CA1207934363 | SERPINC1 | c.1367G= (p.Gly456=) c.752G= (p.Gly251=) c.1223G= (p.Gly408=) c.1490G= (p.Gly497=) c.1448G= (p.Gly483=) c.1346G= (p.Gly449=) c.1310G= (p.Gly437=) c.1151G= (p.Gly384=) | |
| 1 | g.173903917C>G | CA343772096 | SERPINC1 | c.1367G>C (p.Gly456Ala) c.752G>C (p.Gly251Ala) c.1223G>C (p.Gly408Ala) c.1490G>C (p.Gly497Ala) c.1448G>C (p.Gly483Ala) c.1346G>C (p.Gly449Ala) c.1310G>C (p.Gly437Ala) c.1151G>C (p.Gly384Ala) | |
| 1 | g.173903917C>T | CA343772097 | SERPINC1 | c.1367G>A (p.Gly456Asp) c.752G>A (p.Gly251Asp) c.1223G>A (p.Gly408Asp) c.1490G>A (p.Gly497Asp) c.1448G>A (p.Gly483Asp) c.1346G>A (p.Gly449Asp) c.1310G>A (p.Gly437Asp) c.1151G>A (p.Gly384Asp) | dbSNP |
| 1 | g.173903919dup | CA2582342985 | SERPINC1 | c.1367dup (p.Arg457GlnfsTer8) c.752dup (p.Arg252GlnfsTer8) c.1223dup (p.Arg409GlnfsTer8) c.1490dup (p.Arg498GlnfsTer8) c.1448dup (p.Arg484GlnfsTer8) c.1346dup (p.Arg450GlnfsTer8) c.1310dup (p.Arg438GlnfsTer8) c.1151dup (p.Arg385GlnfsTer8) | |
| 1 | g.173903919del | CA2586967699 | SERPINC1 | c.1367del (p.Gly456AlafsTer3) c.752del (p.Gly251AlafsTer3) c.1223del (p.Gly408AlafsTer3) c.1490del (p.Gly497AlafsTer3) c.1448del (p.Gly483AlafsTer3) c.1346del (p.Gly449AlafsTer3) c.1310del (p.Gly437AlafsTer3) c.1151del (p.Gly384AlafsTer3) | |
| 1 | g.173903918C>A | CA343772102 | SERPINC1 | c.1366G>T (p.Gly456Cys) c.751G>T (p.Gly251Cys) c.1222G>T (p.Gly408Cys) c.1489G>T (p.Gly497Cys) c.1447G>T (p.Gly483Cys) c.1345G>T (p.Gly449Cys) c.1309G>T (p.Gly437Cys) c.1150G>T (p.Gly384Cys) | |
| 1 | g.173903918C>G | CA343772104 | SERPINC1 | c.1366G>C (p.Gly456Arg) c.751G>C (p.Gly251Arg) c.1222G>C (p.Gly408Arg) c.1489G>C (p.Gly497Arg) c.1447G>C (p.Gly483Arg) c.1345G>C (p.Gly449Arg) c.1309G>C (p.Gly437Arg) c.1150G>C (p.Gly384Arg) | ClinVar |
| 1 | g.173903918C>T | CA343772106 | SERPINC1 | c.1366G>A (p.Gly456Ser) c.751G>A (p.Gly251Ser) c.1222G>A (p.Gly408Ser) c.1489G>A (p.Gly497Ser) c.1447G>A (p.Gly483Ser) c.1345G>A (p.Gly449Ser) c.1309G>A (p.Gly437Ser) c.1150G>A (p.Gly384Ser) | |
| 1 | g.173903919C>A | CA343772109 | SERPINC1 | c.1365G>T (p.Met455Ile) c.750G>T (p.Met250Ile) c.1221G>T (p.Met407Ile) c.1488G>T (p.Met496Ile) c.1446G>T (p.Met482Ile) c.1344G>T (p.Met448Ile) c.1308G>T (p.Met436Ile) c.1149G>T (p.Met383Ile) | |
| 1 | g.173903919C= | CA1207934364 | SERPINC1 | c.1365G= (p.Met455=) c.750G= (p.Met250=) c.1221G= (p.Met407=) c.1488G= (p.Met496=) c.1446G= (p.Met482=) c.1344G= (p.Met448=) c.1308G= (p.Met436=) c.1149G= (p.Met383=) |