Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
1 | g.173903924del | CA2579753960 | SERPINC1 | c.1361del (p.Phe454SerfsTer5) c.746del (p.Phe249SerfsTer5) c.1217del (p.Phe406SerfsTer5) c.1484del (p.Phe495SerfsTer5) c.1442del (p.Phe481SerfsTer5) c.1340del (p.Phe447SerfsTer5) c.1304del (p.Phe435SerfsTer5) c.1145del (p.Phe382SerfsTer5) | |
1 | g.173903924A>C | CA343772139 | SERPINC1 | c.1360T>G (p.Phe454Val) c.745T>G (p.Phe249Val) c.1216T>G (p.Phe406Val) c.1483T>G (p.Phe495Val) c.1441T>G (p.Phe481Val) c.1339T>G (p.Phe447Val) c.1303T>G (p.Phe435Val) c.1144T>G (p.Phe382Val) | |
1 | g.173903924A>G | CA343772142 | SERPINC1 | c.1360T>C (p.Phe454Leu) c.745T>C (p.Phe249Leu) c.1216T>C (p.Phe406Leu) c.1483T>C (p.Phe495Leu) c.1441T>C (p.Phe481Leu) c.1339T>C (p.Phe447Leu) c.1303T>C (p.Phe435Leu) c.1144T>C (p.Phe382Leu) | |
1 | g.173903924A>T | CA343772140 | SERPINC1 | c.1360T>A (p.Phe454Ile) c.745T>A (p.Phe249Ile) c.1216T>A (p.Phe406Ile) c.1483T>A (p.Phe495Ile) c.1441T>A (p.Phe481Ile) c.1339T>A (p.Phe447Ile) c.1303T>A (p.Phe435Ile) c.1144T>A (p.Phe382Ile) | |
1 | g.173903925G>A | CA421821278 | SERPINC1 | c.1359C>T (p.Ile453=) c.744C>T (p.Ile248=) c.1215C>T (p.Ile405=) c.1482C>T (p.Ile494=) c.1440C>T (p.Ile480=) c.1338C>T (p.Ile446=) c.1302C>T (p.Ile434=) c.1143C>T (p.Ile381=) | |
1 | g.173903925G>C | CA343772144 | SERPINC1 | c.1359C>G (p.Ile453Met) c.744C>G (p.Ile248Met) c.1215C>G (p.Ile405Met) c.1482C>G (p.Ile494Met) c.1440C>G (p.Ile480Met) c.1338C>G (p.Ile446Met) c.1302C>G (p.Ile434Met) c.1143C>G (p.Ile381Met) | dbSNP |
1 | g.173903925G= | CA1207934366 | SERPINC1 | c.1359C= (p.Ile453=) c.744C= (p.Ile248=) c.1215C= (p.Ile405=) c.1482C= (p.Ile494=) c.1440C= (p.Ile480=) c.1338C= (p.Ile446=) c.1302C= (p.Ile434=) c.1143C= (p.Ile381=) | |
1 | g.173903925G>T | CA421821279 | SERPINC1 | c.1359C>A (p.Ile453=) c.744C>A (p.Ile248=) c.1215C>A (p.Ile405=) c.1482C>A (p.Ile494=) c.1440C>A (p.Ile480=) c.1338C>A (p.Ile446=) c.1302C>A (p.Ile434=) c.1143C>A (p.Ile381=) | |
1 | g.173903926A>C | CA343772146 | SERPINC1 | c.1358T>G (p.Ile453Ser) c.743T>G (p.Ile248Ser) c.1214T>G (p.Ile405Ser) c.1481T>G (p.Ile494Ser) c.1439T>G (p.Ile480Ser) c.1337T>G (p.Ile446Ser) c.1301T>G (p.Ile434Ser) c.1142T>G (p.Ile381Ser) | |
1 | g.173903926A>G | CA343772148 | SERPINC1 | c.1358T>C (p.Ile453Thr) c.743T>C (p.Ile248Thr) c.1214T>C (p.Ile405Thr) c.1481T>C (p.Ile494Thr) c.1439T>C (p.Ile480Thr) c.1337T>C (p.Ile446Thr) c.1301T>C (p.Ile434Thr) c.1142T>C (p.Ile381Thr) | ClinVar |
1 | g.173903926A>T | CA343772150 | SERPINC1 | c.1358T>A (p.Ile453Asn) c.743T>A (p.Ile248Asn) c.1214T>A (p.Ile405Asn) c.1481T>A (p.Ile494Asn) c.1439T>A (p.Ile480Asn) c.1337T>A (p.Ile446Asn) c.1301T>A (p.Ile434Asn) c.1142T>A (p.Ile381Asn) | |
1 | g.173903926delinsTTAT | CA2695199917 | SERPINC1 | c.1358delinsATAA (p.Ile453delinsAsnAsn) c.743delinsATAA (p.Ile248delinsAsnAsn) c.1214delinsATAA (p.Ile405delinsAsnAsn) c.1481delinsATAA (p.Ile494delinsAsnAsn) c.1439delinsATAA (p.Ile480delinsAsnAsn) c.1337delinsATAA (p.Ile446delinsAsnAsn) c.1301delinsATAA (p.Ile434delinsAsnAsn) c.1142delinsATAA (p.Ile381delinsAsnAsn) | ClinVar |
1 | g.173903927T>A | CA343772152 | SERPINC1 | c.1357A>T (p.Ile453Phe) c.742A>T (p.Ile248Phe) c.1213A>T (p.Ile405Phe) c.1480A>T (p.Ile494Phe) c.1438A>T (p.Ile480Phe) c.1336A>T (p.Ile446Phe) c.1300A>T (p.Ile434Phe) c.1141A>T (p.Ile381Phe) | |
1 | g.173903927T>C | CA343772153 | SERPINC1 | c.1357A>G (p.Ile453Val) c.742A>G (p.Ile248Val) c.1213A>G (p.Ile405Val) c.1480A>G (p.Ile494Val) c.1438A>G (p.Ile480Val) c.1336A>G (p.Ile446Val) c.1300A>G (p.Ile434Val) c.1141A>G (p.Ile381Val) | |
1 | g.173903927T>G | CA343772154 | SERPINC1 | c.1357A>C (p.Ile453Leu) c.742A>C (p.Ile248Leu) c.1213A>C (p.Ile405Leu) c.1480A>C (p.Ile494Leu) c.1438A>C (p.Ile480Leu) c.1336A>C (p.Ile446Leu) c.1300A>C (p.Ile434Leu) c.1141A>C (p.Ile381Leu) | |
1 | g.173903927T= | CA1207934367 | SERPINC1 | c.1357A= (p.Ile453=) c.742A= (p.Ile248=) c.1213A= (p.Ile405=) c.1480A= (p.Ile494=) c.1438A= (p.Ile480=) c.1336A= (p.Ile446=) c.1300A= (p.Ile434=) c.1141A= (p.Ile381=) | |
1 | g.173903927dup | CA2586967700 | SERPINC1 | c.1357dup (p.Ile453AsnfsTer12) c.742dup (p.Ile248AsnfsTer12) c.1213dup (p.Ile405AsnfsTer12) c.1480dup (p.Ile494AsnfsTer12) c.1438dup (p.Ile480AsnfsTer12) c.1336dup (p.Ile446AsnfsTer12) c.1300dup (p.Ile434AsnfsTer12) c.1141dup (p.Ile381AsnfsTer12) | |
1 | g.173903927_173903928insTAA | CA527601310 | SERPINC1 | c.1356_1357insTTA (p.Ile452_Ile453insLeu) c.741_742insTTA (p.Ile247_Ile248insLeu) c.1212_1213insTTA (p.Ile404_Ile405insLeu) c.1479_1480insTTA (p.Ile493_Ile494insLeu) c.1437_1438insTTA (p.Ile479_Ile480insLeu) c.1335_1336insTTA (p.Ile445_Ile446insLeu) c.1299_1300insTTA (p.Ile433_Ile434insLeu) c.1140_1141insTTA (p.Ile380_Ile381insLeu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.173903928A>C | CA343772156 | SERPINC1 | c.1356T>G (p.Ile452Met) c.741T>G (p.Ile247Met) c.1212T>G (p.Ile404Met) c.1479T>G (p.Ile493Met) c.1437T>G (p.Ile479Met) c.1335T>G (p.Ile445Met) c.1299T>G (p.Ile433Met) c.1140T>G (p.Ile380Met) | |
1 | g.173903928A>G | CA421821281 | SERPINC1 | c.1356T>C (p.Ile452=) c.741T>C (p.Ile247=) c.1212T>C (p.Ile404=) c.1479T>C (p.Ile493=) c.1437T>C (p.Ile479=) c.1335T>C (p.Ile445=) c.1299T>C (p.Ile433=) c.1140T>C (p.Ile380=) | |
1 | g.173903928A>T | CA421821280 | SERPINC1 | c.1356T>A (p.Ile452=) c.741T>A (p.Ile247=) c.1212T>A (p.Ile404=) c.1479T>A (p.Ile493=) c.1437T>A (p.Ile479=) c.1335T>A (p.Ile445=) c.1299T>A (p.Ile433=) c.1140T>A (p.Ile380=) | |
1 | g.173903929A= | CA1207934368 | SERPINC1 | c.1355T= (p.Ile452=) c.740T= (p.Ile247=) c.1211T= (p.Ile404=) c.1478T= (p.Ile493=) c.1436T= (p.Ile479=) c.1334T= (p.Ile445=) c.1298T= (p.Ile433=) c.1139T= (p.Ile380=) | |
1 | g.173903929A>C | CA343772159 | SERPINC1 | c.1355T>G (p.Ile452Ser) c.740T>G (p.Ile247Ser) c.1211T>G (p.Ile404Ser) c.1478T>G (p.Ile493Ser) c.1436T>G (p.Ile479Ser) c.1334T>G (p.Ile445Ser) c.1298T>G (p.Ile433Ser) c.1139T>G (p.Ile380Ser) | |
1 | g.173903929A>G | CA1251214 | SERPINC1 | c.1355T>C (p.Ile452Thr) c.740T>C (p.Ile247Thr) c.1211T>C (p.Ile404Thr) c.1478T>C (p.Ile493Thr) c.1436T>C (p.Ile479Thr) c.1334T>C (p.Ile445Thr) c.1298T>C (p.Ile433Thr) c.1139T>C (p.Ile380Thr) | ClinVar dbSNP ExAC gnomAD v2 |
1 | g.173903929A>T | CA343772162 | SERPINC1 | c.1355T>A (p.Ile452Asn) c.740T>A (p.Ile247Asn) c.1211T>A (p.Ile404Asn) c.1478T>A (p.Ile493Asn) c.1436T>A (p.Ile479Asn) c.1334T>A (p.Ile445Asn) c.1298T>A (p.Ile433Asn) c.1139T>A (p.Ile380Asn) | |
1 | g.173903930T>A | CA343772169 | SERPINC1 | c.1354A>T (p.Ile452Phe) c.739A>T (p.Ile247Phe) c.1210A>T (p.Ile404Phe) c.1477A>T (p.Ile493Phe) c.1435A>T (p.Ile479Phe) c.1333A>T (p.Ile445Phe) c.1297A>T (p.Ile433Phe) c.1138A>T (p.Ile380Phe) | |
1 | g.173903930T>C | CA343772167 | SERPINC1 | c.1354A>G (p.Ile452Val) c.739A>G (p.Ile247Val) c.1210A>G (p.Ile404Val) c.1477A>G (p.Ile493Val) c.1435A>G (p.Ile479Val) c.1333A>G (p.Ile445Val) c.1297A>G (p.Ile433Val) c.1138A>G (p.Ile380Val) | gnomAD v4 COSMIC |
1 | g.173903930T>G | CA343772166 | SERPINC1 | c.1354A>C (p.Ile452Leu) c.739A>C (p.Ile247Leu) c.1210A>C (p.Ile404Leu) c.1477A>C (p.Ile493Leu) c.1435A>C (p.Ile479Leu) c.1333A>C (p.Ile445Leu) c.1297A>C (p.Ile433Leu) c.1138A>C (p.Ile380Leu) | |
1 | g.173903931A>C | CA421821282 | SERPINC1 | c.1353T>G (p.Thr451=) c.738T>G (p.Thr246=) c.1209T>G (p.Thr403=) c.1476T>G (p.Thr492=) c.1434T>G (p.Thr478=) c.1332T>G (p.Thr444=) c.1296T>G (p.Thr432=) c.1137T>G (p.Thr379=) | |
1 | g.173903931A>G | CA421821283 | SERPINC1 | c.1353T>C (p.Thr451=) c.738T>C (p.Thr246=) c.1209T>C (p.Thr403=) c.1476T>C (p.Thr492=) c.1434T>C (p.Thr478=) c.1332T>C (p.Thr444=) c.1296T>C (p.Thr432=) c.1137T>C (p.Thr379=) | |
1 | g.173903931A>T | CA421821284 | SERPINC1 | c.1353T>A (p.Thr451=) c.738T>A (p.Thr246=) c.1209T>A (p.Thr403=) c.1476T>A (p.Thr492=) c.1434T>A (p.Thr478=) c.1332T>A (p.Thr444=) c.1296T>A (p.Thr432=) c.1137T>A (p.Thr379=) | |
1 | g.173903932G>A | CA343772172 | SERPINC1 | c.1352C>T (p.Thr451Ile) c.737C>T (p.Thr246Ile) c.1208C>T (p.Thr403Ile) c.1475C>T (p.Thr492Ile) c.1433C>T (p.Thr478Ile) c.1331C>T (p.Thr444Ile) c.1295C>T (p.Thr432Ile) c.1136C>T (p.Thr379Ile) | |
1 | g.173903932G>C | CA343772173 | SERPINC1 | c.1352C>G (p.Thr451Ser) c.737C>G (p.Thr246Ser) c.1208C>G (p.Thr403Ser) c.1475C>G (p.Thr492Ser) c.1433C>G (p.Thr478Ser) c.1331C>G (p.Thr444Ser) c.1295C>G (p.Thr432Ser) c.1136C>G (p.Thr379Ser) | |
1 | g.173903932G>T | CA343772174 | SERPINC1 | c.1352C>A (p.Thr451Asn) c.737C>A (p.Thr246Asn) c.1208C>A (p.Thr403Asn) c.1475C>A (p.Thr492Asn) c.1433C>A (p.Thr478Asn) c.1331C>A (p.Thr444Asn) c.1295C>A (p.Thr432Asn) c.1136C>A (p.Thr379Asn) | |
1 | g.173903933T>A | CA343772177 | SERPINC1 | c.1351A>T (p.Thr451Ser) c.736A>T (p.Thr246Ser) c.1207A>T (p.Thr403Ser) c.1474A>T (p.Thr492Ser) c.1432A>T (p.Thr478Ser) c.1330A>T (p.Thr444Ser) c.1294A>T (p.Thr432Ser) c.1135A>T (p.Thr379Ser) | |
1 | g.173903933T>C | CA343772179 | SERPINC1 | c.1351A>G (p.Thr451Ala) c.736A>G (p.Thr246Ala) c.1207A>G (p.Thr403Ala) c.1474A>G (p.Thr492Ala) c.1432A>G (p.Thr478Ala) c.1330A>G (p.Thr444Ala) c.1294A>G (p.Thr432Ala) c.1135A>G (p.Thr379Ala) | gnomAD v4 |
1 | g.173903933T>G | CA343772180 | SERPINC1 | c.1351A>C (p.Thr451Pro) c.736A>C (p.Thr246Pro) c.1207A>C (p.Thr403Pro) c.1474A>C (p.Thr492Pro) c.1432A>C (p.Thr478Pro) c.1330A>C (p.Thr444Pro) c.1294A>C (p.Thr432Pro) c.1135A>C (p.Thr379Pro) | |
1 | g.173903934G>A | CA1251215 | SERPINC1 | c.1350C>T (p.Asn450=) c.735C>T (p.Asn245=) c.1206C>T (p.Asn402=) c.1473C>T (p.Asn491=) c.1431C>T (p.Asn477=) c.1329C>T (p.Asn443=) c.1293C>T (p.Asn431=) c.1134C>T (p.Asn378=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173903934G>C | CA343772184 | SERPINC1 | c.1350C>G (p.Asn450Lys) c.735C>G (p.Asn245Lys) c.1206C>G (p.Asn402Lys) c.1473C>G (p.Asn491Lys) c.1431C>G (p.Asn477Lys) c.1329C>G (p.Asn443Lys) c.1293C>G (p.Asn431Lys) c.1134C>G (p.Asn378Lys) | |
1 | g.173903934G= | CA1139773039 | SERPINC1 | c.1350C= (p.Asn450=) c.735C= (p.Asn245=) c.1206C= (p.Asn402=) c.1473C= (p.Asn491=) c.1431C= (p.Asn477=) c.1329C= (p.Asn443=) c.1293C= (p.Asn431=) c.1134C= (p.Asn378=) |