| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.173903900A>C | CA343772026 | SERPINC1 | c.1384T>G (p.Cys462Gly) c.769T>G (p.Cys257Gly) c.1240T>G (p.Cys414Gly) c.1507T>G (p.Cys503Gly) c.1465T>G (p.Cys489Gly) c.1363T>G (p.Cys455Gly) c.1327T>G (p.Cys443Gly) c.1168T>G (p.Cys390Gly) | |
| 1 | g.173903900A>G | CA343772027 | SERPINC1 | c.1384T>C (p.Cys462Arg) c.769T>C (p.Cys257Arg) c.1240T>C (p.Cys414Arg) c.1507T>C (p.Cys503Arg) c.1465T>C (p.Cys489Arg) c.1363T>C (p.Cys455Arg) c.1327T>C (p.Cys443Arg) c.1168T>C (p.Cys390Arg) | gnomAD v4 |
| 1 | g.173903900A>T | CA343772029 | SERPINC1 | c.1384T>A (p.Cys462Ser) c.769T>A (p.Cys257Ser) c.1240T>A (p.Cys414Ser) c.1507T>A (p.Cys503Ser) c.1465T>A (p.Cys489Ser) c.1363T>A (p.Cys455Ser) c.1327T>A (p.Cys443Ser) c.1168T>A (p.Cys390Ser) | |
| 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.173903901A= | CA1143974262 | SERPINC1 | c.1383T= (p.Pro461=) c.768T= (p.Pro256=) c.1239T= (p.Pro413=) c.1506T= (p.Pro502=) c.1464T= (p.Pro488=) c.1362T= (p.Pro454=) c.1326T= (p.Pro442=) c.1167T= (p.Pro389=) | |
| 1 | g.173903901A>C | CA421821176 | SERPINC1 | c.1383T>G (p.Pro461=) c.768T>G (p.Pro256=) c.1239T>G (p.Pro413=) c.1506T>G (p.Pro502=) c.1464T>G (p.Pro488=) c.1362T>G (p.Pro454=) c.1326T>G (p.Pro442=) c.1167T>G (p.Pro389=) | |
| 1 | g.173903901A>G | CA32777219 | SERPINC1 | c.1383T>C (p.Pro461=) c.768T>C (p.Pro256=) c.1239T>C (p.Pro413=) c.1506T>C (p.Pro502=) c.1464T>C (p.Pro488=) c.1362T>C (p.Pro454=) c.1326T>C (p.Pro442=) c.1167T>C (p.Pro389=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173903901A>T | CA421821179 | SERPINC1 | c.1383T>A (p.Pro461=) c.768T>A (p.Pro256=) c.1239T>A (p.Pro413=) c.1506T>A (p.Pro502=) c.1464T>A (p.Pro488=) c.1362T>A (p.Pro454=) c.1326T>A (p.Pro442=) c.1167T>A (p.Pro389=) | |
| 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.173903902G>A | CA210781 | SERPINC1 | c.1382C>T (p.Pro461Leu) c.767C>T (p.Pro256Leu) c.1238C>T (p.Pro413Leu) c.1505C>T (p.Pro502Leu) c.1463C>T (p.Pro488Leu) c.1361C>T (p.Pro454Leu) c.1325C>T (p.Pro442Leu) c.1166C>T (p.Pro389Leu) | ClinVar dbSNP gnomAD v4 |
| 1 | g.173903902G>C | CA343772036 | SERPINC1 | c.1382C>G (p.Pro461Arg) c.767C>G (p.Pro256Arg) c.1238C>G (p.Pro413Arg) c.1505C>G (p.Pro502Arg) c.1463C>G (p.Pro488Arg) c.1361C>G (p.Pro454Arg) c.1325C>G (p.Pro442Arg) c.1166C>G (p.Pro389Arg) | |
| 1 | g.173903902G= | CA1141581217 | SERPINC1 | c.1382C= (p.Pro461=) c.767C= (p.Pro256=) c.1238C= (p.Pro413=) c.1505C= (p.Pro502=) c.1463C= (p.Pro488=) c.1361C= (p.Pro454=) c.1325C= (p.Pro442=) c.1166C= (p.Pro389=) | |
| 1 | g.173903902G>T | CA343772033 | SERPINC1 | c.1382C>A (p.Pro461His) c.767C>A (p.Pro256His) c.1238C>A (p.Pro413His) c.1505C>A (p.Pro502His) c.1463C>A (p.Pro488His) c.1361C>A (p.Pro454His) c.1325C>A (p.Pro442His) c.1166C>A (p.Pro389His) | |
| 1 | g.173903903G>A | CA343772038 | SERPINC1 | c.1381C>T (p.Pro461Ser) c.766C>T (p.Pro256Ser) c.1237C>T (p.Pro413Ser) c.1504C>T (p.Pro502Ser) c.1462C>T (p.Pro488Ser) c.1360C>T (p.Pro454Ser) c.1324C>T (p.Pro442Ser) c.1165C>T (p.Pro389Ser) | COSMIC |
| 1 | g.173903903G>C | CA343772040 | SERPINC1 | c.1381C>G (p.Pro461Ala) c.766C>G (p.Pro256Ala) c.1237C>G (p.Pro413Ala) c.1504C>G (p.Pro502Ala) c.1462C>G (p.Pro488Ala) c.1360C>G (p.Pro454Ala) c.1324C>G (p.Pro442Ala) c.1165C>G (p.Pro389Ala) | |
| 1 | g.173903903G>T | CA343772042 | SERPINC1 | c.1381C>A (p.Pro461Thr) c.766C>A (p.Pro256Thr) c.1237C>A (p.Pro413Thr) c.1504C>A (p.Pro502Thr) c.1462C>A (p.Pro488Thr) c.1360C>A (p.Pro454Thr) c.1324C>A (p.Pro442Thr) c.1165C>A (p.Pro389Thr) | gnomAD v4 |
| 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.173903904G>A | CA421821191 | SERPINC1 | c.1380C>T (p.Asn460=) c.765C>T (p.Asn255=) c.1236C>T (p.Asn412=) c.1503C>T (p.Asn501=) c.1461C>T (p.Asn487=) c.1359C>T (p.Asn453=) c.1323C>T (p.Asn441=) c.1164C>T (p.Asn388=) | |
| 1 | g.173903904G>C | CA343772045 | SERPINC1 | c.1380C>G (p.Asn460Lys) c.765C>G (p.Asn255Lys) c.1236C>G (p.Asn412Lys) c.1503C>G (p.Asn501Lys) c.1461C>G (p.Asn487Lys) c.1359C>G (p.Asn453Lys) c.1323C>G (p.Asn441Lys) c.1164C>G (p.Asn388Lys) | |
| 1 | g.173903904G>T | CA343772047 | SERPINC1 | c.1380C>A (p.Asn460Lys) c.765C>A (p.Asn255Lys) c.1236C>A (p.Asn412Lys) c.1503C>A (p.Asn501Lys) c.1461C>A (p.Asn487Lys) c.1359C>A (p.Asn453Lys) c.1323C>A (p.Asn441Lys) c.1164C>A (p.Asn388Lys) | gnomAD v4 |
| 1 | g.173903905T>A | CA343772053 | SERPINC1 | c.1379A>T (p.Asn460Ile) c.764A>T (p.Asn255Ile) c.1235A>T (p.Asn412Ile) c.1502A>T (p.Asn501Ile) c.1460A>T (p.Asn487Ile) c.1358A>T (p.Asn453Ile) c.1322A>T (p.Asn441Ile) c.1163A>T (p.Asn388Ile) | |
| 1 | g.173903905T>C | CA343772050 | SERPINC1 | c.1379A>G (p.Asn460Ser) c.764A>G (p.Asn255Ser) c.1235A>G (p.Asn412Ser) c.1502A>G (p.Asn501Ser) c.1460A>G (p.Asn487Ser) c.1358A>G (p.Asn453Ser) c.1322A>G (p.Asn441Ser) c.1163A>G (p.Asn388Ser) | |
| 1 | g.173903905T>G | CA343772051 | SERPINC1 | c.1379A>C (p.Asn460Thr) c.764A>C (p.Asn255Thr) c.1235A>C (p.Asn412Thr) c.1502A>C (p.Asn501Thr) c.1460A>C (p.Asn487Thr) c.1358A>C (p.Asn453Thr) c.1322A>C (p.Asn441Thr) c.1163A>C (p.Asn388Thr) | |
| 1 | g.173903906T>A | CA343772056 | SERPINC1 | c.1378A>T (p.Asn460Tyr) c.763A>T (p.Asn255Tyr) c.1234A>T (p.Asn412Tyr) c.1501A>T (p.Asn501Tyr) c.1459A>T (p.Asn487Tyr) c.1357A>T (p.Asn453Tyr) c.1321A>T (p.Asn441Tyr) c.1162A>T (p.Asn388Tyr) | |
| 1 | g.173903906T>C | CA343772058 | SERPINC1 | c.1378A>G (p.Asn460Asp) c.763A>G (p.Asn255Asp) c.1234A>G (p.Asn412Asp) c.1501A>G (p.Asn501Asp) c.1459A>G (p.Asn487Asp) c.1357A>G (p.Asn453Asp) c.1321A>G (p.Asn441Asp) c.1162A>G (p.Asn388Asp) | |
| 1 | g.173903906T>G | CA343772060 | SERPINC1 | c.1378A>C (p.Asn460His) c.763A>C (p.Asn255His) c.1234A>C (p.Asn412His) c.1501A>C (p.Asn501His) c.1459A>C (p.Asn487His) c.1357A>C (p.Asn453His) c.1321A>C (p.Asn441His) c.1162A>C (p.Asn388His) | |
| 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) |