WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.173903890del | CA2573951909 | SERPINC1 | c.*2del (n.*2del) | |
| 1 | g.173903892_173903895dup | CA2649174129 | SERPINC1 | c.1392_1395dup (n.1392_1395dup) c.777_780dup (n.777_780dup) c.1248_1251dup (n.1248_1251dup) c.1515_1518dup (n.1515_1518dup) c.1473_1476dup (n.1473_1476dup) c.1371_1374dup (n.1371_1374dup) c.1335_1338dup (n.1335_1338dup) c.1176_1179dup (n.1176_1179dup) | gnomAD v4 |
| 1 | g.173903892_173903895del | CA2586967694 | SERPINC1 | c.1392_1395del (p.Ter465MetextTer14) c.777_780del (p.Ter260MetextTer14) c.1248_1251del (p.Ter417MetextTer14) c.1515_1518del (p.Ter506MetextTer14) c.1473_1476del (p.Ter492MetextTer14) c.1371_1374del (p.Ter458MetextTer14) c.1335_1338del (p.Ter446MetextTer14) c.1176_1179del (p.Ter393MetextTer14) | |
| 1 | g.173903890T>A | CA343771976 | SERPINC1 | c.1394A>T (p.Ter465Leu) c.779A>T (p.Ter260Leu) c.1250A>T (p.Ter417Leu) c.1517A>T (p.Ter506Leu) c.1475A>T (p.Ter492Leu) c.1373A>T (p.Ter458Leu) c.1337A>T (p.Ter446Leu) c.1178A>T (p.Ter393Leu) | |
| 1 | g.173903890T>C | CA421821132 | SERPINC1 | c.1394A>G (p.Ter465=) c.779A>G (p.Ter260=) c.1250A>G (p.Ter417=) c.1517A>G (p.Ter506=) c.1475A>G (p.Ter492=) c.1373A>G (p.Ter458=) c.1337A>G (p.Ter446=) c.1178A>G (p.Ter393=) | |
| 1 | g.173903890T>G | CA343771979 | SERPINC1 | c.1394A>C (p.Ter465Ser) c.779A>C (p.Ter260Ser) c.1250A>C (p.Ter417Ser) c.1517A>C (p.Ter506Ser) c.1475A>C (p.Ter492Ser) c.1373A>C (p.Ter458Ser) c.1337A>C (p.Ter446Ser) c.1178A>C (p.Ter393Ser) | |
| 1 | g.173903891A= | CA1207934358 | SERPINC1 | c.1393T= (p.Ter465=) c.778T= (p.Ter260=) c.1249T= (p.Ter417=) c.1516T= (p.Ter506=) c.1474T= (p.Ter492=) c.1372T= (p.Ter458=) c.1336T= (p.Ter446=) c.1177T= (p.Ter393=) | |
| 1 | g.173903891A>C | CA343771983 | SERPINC1 | c.1393T>G (p.Ter465Glu) c.778T>G (p.Ter260Glu) c.1249T>G (p.Ter417Glu) c.1516T>G (p.Ter506Glu) c.1474T>G (p.Ter492Glu) c.1372T>G (p.Ter458Glu) c.1336T>G (p.Ter446Glu) c.1177T>G (p.Ter393Glu) | |
| 1 | g.173903891A>G | CA343771985 | SERPINC1 | c.1393T>C (p.Ter465Gln) c.778T>C (p.Ter260Gln) c.1249T>C (p.Ter417Gln) c.1516T>C (p.Ter506Gln) c.1474T>C (p.Ter492Gln) c.1372T>C (p.Ter458Gln) c.1336T>C (p.Ter446Gln) c.1177T>C (p.Ter393Gln) | ClinVar dbSNP |
| 1 | g.173903891A>T | CA343771987 | SERPINC1 | c.1393T>A (p.Ter465Lys) c.778T>A (p.Ter260Lys) c.1249T>A (p.Ter417Lys) c.1516T>A (p.Ter506Lys) c.1474T>A (p.Ter492Lys) c.1372T>A (p.Ter458Lys) c.1336T>A (p.Ter446Lys) c.1177T>A (p.Ter393Lys) | |
| 1 | g.173903892C>A | CA343771989 | SERPINC1 | c.1392G>T (p.Lys464Asn) c.777G>T (p.Lys259Asn) c.1248G>T (p.Lys416Asn) c.1515G>T (p.Lys505Asn) c.1473G>T (p.Lys491Asn) c.1371G>T (p.Lys457Asn) c.1335G>T (p.Lys445Asn) c.1176G>T (p.Lys392Asn) | |
| 1 | g.173903892C>G | CA343771991 | SERPINC1 | c.1392G>C (p.Lys464Asn) c.777G>C (p.Lys259Asn) c.1248G>C (p.Lys416Asn) c.1515G>C (p.Lys505Asn) c.1473G>C (p.Lys491Asn) c.1371G>C (p.Lys457Asn) c.1335G>C (p.Lys445Asn) c.1176G>C (p.Lys392Asn) | |
| 1 | g.173903892C>T | CA421821142 | SERPINC1 | c.1392G>A (p.Lys464=) c.777G>A (p.Lys259=) c.1248G>A (p.Lys416=) c.1515G>A (p.Lys505=) c.1473G>A (p.Lys491=) c.1371G>A (p.Lys457=) c.1335G>A (p.Lys445=) c.1176G>A (p.Lys392=) | |
| 1 | g.173903892_173903897del | CA2572092707 | SERPINC1 | c.1387_1392del (p.Val463_Lys464del) c.772_777del (p.Val258_Lys259del) c.1243_1248del (p.Val415_Lys416del) c.1510_1515del (p.Val504_Lys505del) c.1468_1473del (p.Val490_Lys491del) c.1366_1371del (p.Val456_Lys457del) c.1330_1335del (p.Val444_Lys445del) c.1171_1176del (p.Val391_Lys392del) | |
| 1 | g.173903893T>A | CA343771993 | SERPINC1 | c.1391A>T (p.Lys464Met) c.776A>T (p.Lys259Met) c.1247A>T (p.Lys416Met) c.1514A>T (p.Lys505Met) c.1472A>T (p.Lys491Met) c.1370A>T (p.Lys457Met) c.1334A>T (p.Lys445Met) c.1175A>T (p.Lys392Met) | |
| 1 | g.173903893T>C | CA343771994 | SERPINC1 | c.1391A>G (p.Lys464Arg) c.776A>G (p.Lys259Arg) c.1247A>G (p.Lys416Arg) c.1514A>G (p.Lys505Arg) c.1472A>G (p.Lys491Arg) c.1370A>G (p.Lys457Arg) c.1334A>G (p.Lys445Arg) c.1175A>G (p.Lys392Arg) | |
| 1 | g.173903893T>G | CA343771995 | SERPINC1 | c.1391A>C (p.Lys464Thr) c.776A>C (p.Lys259Thr) c.1247A>C (p.Lys416Thr) c.1514A>C (p.Lys505Thr) c.1472A>C (p.Lys491Thr) c.1370A>C (p.Lys457Thr) c.1334A>C (p.Lys445Thr) c.1175A>C (p.Lys392Thr) | |
| 1 | g.173903894dup | CA2586967696 | SERPINC1 | c.1391dup (p.Ter465ValextTer19) c.776dup (p.Ter260ValextTer19) c.1247dup (p.Ter417ValextTer19) c.1514dup (p.Ter506ValextTer19) c.1472dup (p.Ter492ValextTer19) c.1370dup (p.Ter458ValextTer19) c.1334dup (p.Ter446ValextTer19) c.1175dup (p.Ter393ValextTer19) | |
| 1 | g.173903893_173903894dup | CA2586967695 | SERPINC1 | c.1390_1391dup (p.Ter465SerextTer16) c.775_776dup (p.Ter260SerextTer16) c.1246_1247dup (p.Ter417SerextTer16) c.1513_1514dup (p.Ter506SerextTer16) c.1471_1472dup (p.Ter492SerextTer16) c.1369_1370dup (p.Ter458SerextTer16) c.1333_1334dup (p.Ter446SerextTer16) c.1174_1175dup (p.Ter393SerextTer16) | |
| 1 | g.173903894T>A | CA343771998 | SERPINC1 | c.1390A>T (p.Lys464Ter) c.775A>T (p.Lys259Ter) c.1246A>T (p.Lys416Ter) c.1513A>T (p.Lys505Ter) c.1471A>T (p.Lys491Ter) c.1369A>T (p.Lys457Ter) c.1333A>T (p.Lys445Ter) c.1174A>T (p.Lys392Ter) | |
| 1 | g.173903894T>C | CA343772000 | SERPINC1 | c.1390A>G (p.Lys464Glu) c.775A>G (p.Lys259Glu) c.1246A>G (p.Lys416Glu) c.1513A>G (p.Lys505Glu) c.1471A>G (p.Lys491Glu) c.1369A>G (p.Lys457Glu) c.1333A>G (p.Lys445Glu) c.1174A>G (p.Lys392Glu) | |
| 1 | g.173903894T>G | CA343772001 | SERPINC1 | c.1390A>C (p.Lys464Gln) c.775A>C (p.Lys259Gln) c.1246A>C (p.Lys416Gln) c.1513A>C (p.Lys505Gln) c.1471A>C (p.Lys491Gln) c.1369A>C (p.Lys457Gln) c.1333A>C (p.Lys445Gln) c.1174A>C (p.Lys392Gln) | |
| 1 | g.173903894T= | CA1207934359 | SERPINC1 | c.1390A= (p.Lys464=) c.775A= (p.Lys259=) c.1246A= (p.Lys416=) c.1513A= (p.Lys505=) c.1471A= (p.Lys491=) c.1369A= (p.Lys457=) c.1333A= (p.Lys445=) c.1174A= (p.Lys392=) | |
| 1 | g.173903895A>C | CA421821152 | SERPINC1 | c.1389T>G (p.Val463=) c.774T>G (p.Val258=) c.1245T>G (p.Val415=) c.1512T>G (p.Val504=) c.1470T>G (p.Val490=) c.1368T>G (p.Val456=) c.1332T>G (p.Val444=) c.1173T>G (p.Val391=) | |
| 1 | g.173903895A>G | CA421821154 | SERPINC1 | c.1389T>C (p.Val463=) c.774T>C (p.Val258=) c.1245T>C (p.Val415=) c.1512T>C (p.Val504=) c.1470T>C (p.Val490=) c.1368T>C (p.Val456=) c.1332T>C (p.Val444=) c.1173T>C (p.Val391=) | COSMIC |
| 1 | g.173903895A>T | CA421821156 | SERPINC1 | c.1389T>A (p.Val463=) c.774T>A (p.Val258=) c.1245T>A (p.Val415=) c.1512T>A (p.Val504=) c.1470T>A (p.Val490=) c.1368T>A (p.Val456=) c.1332T>A (p.Val444=) c.1173T>A (p.Val391=) | |
| 1 | g.173903895_173903898dup | CA527601309 | SERPINC1 | c.1386_1389dup (p.Lys464CysfsTer2) c.771_774dup (p.Lys259CysfsTer2) c.1242_1245dup (p.Lys416CysfsTer2) c.1509_1512dup (p.Lys505CysfsTer2) c.1467_1470dup (p.Lys491CysfsTer2) c.1365_1368dup (p.Lys457CysfsTer2) c.1329_1332dup (p.Lys445CysfsTer2) c.1170_1173dup (p.Lys392CysfsTer2) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173903896A>C | CA343772006 | SERPINC1 | c.1388T>G (p.Val463Gly) c.773T>G (p.Val258Gly) c.1244T>G (p.Val415Gly) c.1511T>G (p.Val504Gly) c.1469T>G (p.Val490Gly) c.1367T>G (p.Val456Gly) c.1331T>G (p.Val444Gly) c.1172T>G (p.Val391Gly) | |
| 1 | g.173903896A>G | CA343772007 | SERPINC1 | c.1388T>C (p.Val463Ala) c.773T>C (p.Val258Ala) c.1244T>C (p.Val415Ala) c.1511T>C (p.Val504Ala) c.1469T>C (p.Val490Ala) c.1367T>C (p.Val456Ala) c.1331T>C (p.Val444Ala) c.1172T>C (p.Val391Ala) | ClinVar gnomAD v4 |
| 1 | g.173903896A>T | CA343772004 | SERPINC1 | c.1388T>A (p.Val463Asp) c.773T>A (p.Val258Asp) c.1244T>A (p.Val415Asp) c.1511T>A (p.Val504Asp) c.1469T>A (p.Val490Asp) c.1367T>A (p.Val456Asp) c.1331T>A (p.Val444Asp) c.1172T>A (p.Val391Asp) | |
| 1 | g.173903897C>A | CA343772010 | SERPINC1 | c.1387G>T (p.Val463Phe) c.772G>T (p.Val258Phe) c.1243G>T (p.Val415Phe) c.1510G>T (p.Val504Phe) c.1468G>T (p.Val490Phe) c.1366G>T (p.Val456Phe) c.1330G>T (p.Val444Phe) c.1171G>T (p.Val391Phe) | |
| 1 | g.173903897C>G | CA343772012 | SERPINC1 | c.1387G>C (p.Val463Leu) c.772G>C (p.Val258Leu) c.1243G>C (p.Val415Leu) c.1510G>C (p.Val504Leu) c.1468G>C (p.Val490Leu) c.1366G>C (p.Val456Leu) c.1330G>C (p.Val444Leu) c.1171G>C (p.Val391Leu) | |
| 1 | g.173903897C>T | CA343772014 | SERPINC1 | c.1387G>A (p.Val463Ile) c.772G>A (p.Val258Ile) c.1243G>A (p.Val415Ile) c.1510G>A (p.Val504Ile) c.1468G>A (p.Val490Ile) c.1366G>A (p.Val456Ile) c.1330G>A (p.Val444Ile) c.1171G>A (p.Val391Ile) | |
| 1 | g.173903898A>C | CA343772015 | SERPINC1 | c.1386T>G (p.Cys462Trp) c.771T>G (p.Cys257Trp) c.1242T>G (p.Cys414Trp) c.1509T>G (p.Cys503Trp) c.1467T>G (p.Cys489Trp) c.1365T>G (p.Cys455Trp) c.1329T>G (p.Cys443Trp) c.1170T>G (p.Cys390Trp) | |
| 1 | g.173903898A>G | CA421821167 | SERPINC1 | c.1386T>C (p.Cys462=) c.771T>C (p.Cys257=) c.1242T>C (p.Cys414=) c.1509T>C (p.Cys503=) c.1467T>C (p.Cys489=) c.1365T>C (p.Cys455=) c.1329T>C (p.Cys443=) c.1170T>C (p.Cys390=) | |
| 1 | g.173903898A>T | CA343772017 | SERPINC1 | c.1386T>A (p.Cys462Ter) c.771T>A (p.Cys257Ter) c.1242T>A (p.Cys414Ter) c.1509T>A (p.Cys503Ter) c.1467T>A (p.Cys489Ter) c.1365T>A (p.Cys455Ter) c.1329T>A (p.Cys443Ter) c.1170T>A (p.Cys390Ter) | |
| 1 | g.173903899C>A | CA343772020 | SERPINC1 | c.1385G>T (p.Cys462Phe) c.770G>T (p.Cys257Phe) c.1241G>T (p.Cys414Phe) c.1508G>T (p.Cys503Phe) c.1466G>T (p.Cys489Phe) c.1364G>T (p.Cys455Phe) c.1328G>T (p.Cys443Phe) c.1169G>T (p.Cys390Phe) | |
| 1 | g.173903899C>G | CA343772021 | SERPINC1 | c.1385G>C (p.Cys462Ser) c.770G>C (p.Cys257Ser) c.1241G>C (p.Cys414Ser) c.1508G>C (p.Cys503Ser) c.1466G>C (p.Cys489Ser) c.1364G>C (p.Cys455Ser) c.1328G>C (p.Cys443Ser) c.1169G>C (p.Cys390Ser) | |
| 1 | g.173903899C>T | CA343772023 | SERPINC1 | c.1385G>A (p.Cys462Tyr) c.770G>A (p.Cys257Tyr) c.1241G>A (p.Cys414Tyr) c.1508G>A (p.Cys503Tyr) c.1466G>A (p.Cys489Tyr) c.1364G>A (p.Cys455Tyr) c.1328G>A (p.Cys443Tyr) c.1169G>A (p.Cys390Tyr) | |
| 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) |