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.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.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=) | |
1 | g.173903919C>G | CA343772111 | SERPINC1 | c.1365G>C (p.Met455Ile) c.750G>C (p.Met250Ile) c.1221G>C (p.Met407Ile) c.1488G>C (p.Met496Ile) c.1446G>C (p.Met482Ile) c.1344G>C (p.Met448Ile) c.1308G>C (p.Met436Ile) c.1149G>C (p.Met383Ile) | |
1 | g.173903919C>T | CA343772112 | SERPINC1 | c.1365G>A (p.Met455Ile) c.750G>A (p.Met250Ile) c.1221G>A (p.Met407Ile) c.1488G>A (p.Met496Ile) c.1446G>A (p.Met482Ile) c.1344G>A (p.Met448Ile) c.1308G>A (p.Met436Ile) c.1149G>A (p.Met383Ile) | dbSNP |
1 | g.173903920A>C | CA343772119 | SERPINC1 | c.1364T>G (p.Met455Arg) c.749T>G (p.Met250Arg) c.1220T>G (p.Met407Arg) c.1487T>G (p.Met496Arg) c.1445T>G (p.Met482Arg) c.1343T>G (p.Met448Arg) c.1307T>G (p.Met436Arg) c.1148T>G (p.Met383Arg) | |
1 | g.173903920A>G | CA343772115 | SERPINC1 | c.1364T>C (p.Met455Thr) c.749T>C (p.Met250Thr) c.1220T>C (p.Met407Thr) c.1487T>C (p.Met496Thr) c.1445T>C (p.Met482Thr) c.1343T>C (p.Met448Thr) c.1307T>C (p.Met436Thr) c.1148T>C (p.Met383Thr) | |
1 | g.173903920A>T | CA343772117 | SERPINC1 | c.1364T>A (p.Met455Lys) c.749T>A (p.Met250Lys) c.1220T>A (p.Met407Lys) c.1487T>A (p.Met496Lys) c.1445T>A (p.Met482Lys) c.1343T>A (p.Met448Lys) c.1307T>A (p.Met436Lys) c.1148T>A (p.Met383Lys) | |
1 | g.173903921T>A | CA343772122 | SERPINC1 | c.1363A>T (p.Met455Leu) c.748A>T (p.Met250Leu) c.1219A>T (p.Met407Leu) c.1486A>T (p.Met496Leu) c.1444A>T (p.Met482Leu) c.1342A>T (p.Met448Leu) c.1306A>T (p.Met436Leu) c.1147A>T (p.Met383Leu) | |
1 | g.173903921T>C | CA343772124 | SERPINC1 | c.1363A>G (p.Met455Val) c.748A>G (p.Met250Val) c.1219A>G (p.Met407Val) c.1486A>G (p.Met496Val) c.1444A>G (p.Met482Val) c.1342A>G (p.Met448Val) c.1306A>G (p.Met436Val) c.1147A>G (p.Met383Val) | |
1 | g.173903921T>G | CA343772126 | SERPINC1 | c.1363A>C (p.Met455Leu) c.748A>C (p.Met250Leu) c.1219A>C (p.Met407Leu) c.1486A>C (p.Met496Leu) c.1444A>C (p.Met482Leu) c.1342A>C (p.Met448Leu) c.1306A>C (p.Met436Leu) c.1147A>C (p.Met383Leu) | |
1 | g.173903922G>A | CA421821273 | SERPINC1 | c.1362C>T (p.Phe454=) c.747C>T (p.Phe249=) c.1218C>T (p.Phe406=) c.1485C>T (p.Phe495=) c.1443C>T (p.Phe481=) c.1341C>T (p.Phe447=) c.1305C>T (p.Phe435=) c.1146C>T (p.Phe382=) | |
1 | g.173903922G>C | CA343772128 | SERPINC1 | c.1362C>G (p.Phe454Leu) c.747C>G (p.Phe249Leu) c.1218C>G (p.Phe406Leu) c.1485C>G (p.Phe495Leu) c.1443C>G (p.Phe481Leu) c.1341C>G (p.Phe447Leu) c.1305C>G (p.Phe435Leu) c.1146C>G (p.Phe382Leu) | |
1 | g.173903922G>T | CA343772129 | SERPINC1 | c.1362C>A (p.Phe454Leu) c.747C>A (p.Phe249Leu) c.1218C>A (p.Phe406Leu) c.1485C>A (p.Phe495Leu) c.1443C>A (p.Phe481Leu) c.1341C>A (p.Phe447Leu) c.1305C>A (p.Phe435Leu) c.1146C>A (p.Phe382Leu) | |
1 | g.173903923A= | CA1207934365 | SERPINC1 | c.1361T= (p.Phe454=) c.746T= (p.Phe249=) c.1217T= (p.Phe406=) c.1484T= (p.Phe495=) c.1442T= (p.Phe481=) c.1340T= (p.Phe447=) c.1304T= (p.Phe435=) c.1145T= (p.Phe382=) | |
1 | g.173903923A>C | CA343772133 | SERPINC1 | c.1361T>G (p.Phe454Cys) c.746T>G (p.Phe249Cys) c.1217T>G (p.Phe406Cys) c.1484T>G (p.Phe495Cys) c.1442T>G (p.Phe481Cys) c.1340T>G (p.Phe447Cys) c.1304T>G (p.Phe435Cys) c.1145T>G (p.Phe382Cys) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.173903923A>G | CA343772136 | SERPINC1 | c.1361T>C (p.Phe454Ser) c.746T>C (p.Phe249Ser) c.1217T>C (p.Phe406Ser) c.1484T>C (p.Phe495Ser) c.1442T>C (p.Phe481Ser) c.1340T>C (p.Phe447Ser) c.1304T>C (p.Phe435Ser) c.1145T>C (p.Phe382Ser) | |
1 | g.173903923A>T | CA343772134 | SERPINC1 | c.1361T>A (p.Phe454Tyr) c.746T>A (p.Phe249Tyr) c.1217T>A (p.Phe406Tyr) c.1484T>A (p.Phe495Tyr) c.1442T>A (p.Phe481Tyr) c.1340T>A (p.Phe447Tyr) c.1304T>A (p.Phe435Tyr) c.1145T>A (p.Phe382Tyr) |