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 |
|---|---|---|---|---|---|
| 3 | g.93884761_93884771del | CA2586972598 | PROS1 | c.1449_1459del (p.Tyr484PhefsTer11) c.1404_1414del (p.Tyr469PhefsTer11) n.1617_1627del c.1407_1417del (p.Tyr470PhefsTer11) c.1548_1558del (n.1548_1558del) c.204_214del (p.Tyr69PhefsTer11) c.1545_1555del (p.Tyr516PhefsTer11) c.1056_1066del (p.Tyr353PhefsTer11) | |
| 3 | g.93884769T>A | CA353667754 | PROS1 | c.1451A>T (p.Tyr484Phe) c.1406A>T (p.Tyr469Phe) n.1619A>T c.1409A>T (p.Tyr470Phe) c.1550A>T (n.1550A>T) c.206A>T (p.Tyr69Phe) c.1547A>T (p.Tyr516Phe) c.1058A>T (p.Tyr353Phe) | |
| 3 | g.93884769T>C | CA353667758 | PROS1 | c.1451A>G (p.Tyr484Cys) c.1406A>G (p.Tyr469Cys) n.1619A>G c.1409A>G (p.Tyr470Cys) c.1550A>G (n.1550A>G) c.206A>G (p.Tyr69Cys) c.1547A>G (p.Tyr516Cys) c.1058A>G (p.Tyr353Cys) | ClinVar dbSNP |
| 3 | g.93884769T>G | CA353667756 | PROS1 | c.1451A>C (p.Tyr484Ser) c.1406A>C (p.Tyr469Ser) n.1619A>C c.1409A>C (p.Tyr470Ser) c.1550A>C (n.1550A>C) c.206A>C (p.Tyr69Ser) c.1547A>C (p.Tyr516Ser) c.1058A>C (p.Tyr353Ser) | |
| 3 | g.93884769T= | CA1385033054 | PROS1 | c.1451A= (p.Tyr484=) c.1406A= (p.Tyr469=) n.1619A= c.1409A= (p.Tyr470=) c.1550A= (n.1550A=) c.206A= (p.Tyr69=) c.1547A= (p.Tyr516=) c.1058A= (p.Tyr353=) | |
| 3 | g.93884770A>C | CA353667760 | PROS1 | c.1450T>G (p.Tyr484Asp) c.1405T>G (p.Tyr469Asp) n.1618T>G c.1408T>G (p.Tyr470Asp) c.1549T>G (n.1549T>G) c.205T>G (p.Tyr69Asp) c.1546T>G (p.Tyr516Asp) c.1057T>G (p.Tyr353Asp) | |
| 3 | g.93884770A>G | CA353667761 | PROS1 | c.1450T>C (p.Tyr484His) c.1405T>C (p.Tyr469His) n.1618T>C c.1408T>C (p.Tyr470His) c.1549T>C (n.1549T>C) c.205T>C (p.Tyr69His) c.1546T>C (p.Tyr516His) c.1057T>C (p.Tyr353His) | |
| 3 | g.93884770A>T | CA353667763 | PROS1 | c.1450T>A (p.Tyr484Asn) c.1405T>A (p.Tyr469Asn) n.1618T>A c.1408T>A (p.Tyr470Asn) c.1549T>A (n.1549T>A) c.205T>A (p.Tyr69Asn) c.1546T>A (p.Tyr516Asn) c.1057T>A (p.Tyr353Asn) | |
| 3 | g.93884771G>A | CA434458911 | PROS1 | c.1449C>T (p.Ser483=) c.1404C>T (p.Ser468=) n.1617C>T c.1407C>T (p.Ser469=) c.1548C>T (n.1548C>T) c.204C>T (p.Ser68=) c.1545C>T (p.Ser515=) c.1056C>T (p.Ser352=) | |
| 3 | g.93884771G>C | CA434458912 | PROS1 | c.1449C>G (p.Ser483=) c.1404C>G (p.Ser468=) n.1617C>G c.1407C>G (p.Ser469=) c.1548C>G (n.1548C>G) c.204C>G (p.Ser68=) c.1545C>G (p.Ser515=) c.1056C>G (p.Ser352=) | |
| 3 | g.93884771G>T | CA434458913 | PROS1 | c.1449C>A (p.Ser483=) c.1404C>A (p.Ser468=) n.1617C>A c.1407C>A (p.Ser469=) c.1548C>A (n.1548C>A) c.204C>A (p.Ser68=) c.1545C>A (p.Ser515=) c.1056C>A (p.Ser352=) | |
| 3 | g.93884772G>A | CA353667766 | PROS1 | c.1448C>T (p.Ser483Phe) c.1403C>T (p.Ser468Phe) n.1616C>T c.1406C>T (p.Ser469Phe) c.1547C>T (n.1547C>T) c.203C>T (p.Ser68Phe) c.1544C>T (p.Ser515Phe) c.1055C>T (p.Ser352Phe) | dbSNP |
| 3 | g.93884772G>C | CA353667768 | PROS1 | c.1448C>G (p.Ser483Cys) c.1403C>G (p.Ser468Cys) n.1616C>G c.1406C>G (p.Ser469Cys) c.1547C>G (n.1547C>G) c.203C>G (p.Ser68Cys) c.1544C>G (p.Ser515Cys) c.1055C>G (p.Ser352Cys) | |
| 3 | g.93884772G= | CA1385033055 | PROS1 | c.1448C= (p.Ser483=) c.1403C= (p.Ser468=) n.1616C= c.1406C= (p.Ser469=) c.1547C= (n.1547C=) c.203C= (p.Ser68=) c.1544C= (p.Ser515=) c.1055C= (p.Ser352=) | |
| 3 | g.93884772G>T | CA353667769 | PROS1 | c.1448C>A (p.Ser483Tyr) c.1403C>A (p.Ser468Tyr) n.1616C>A c.1406C>A (p.Ser469Tyr) c.1547C>A (n.1547C>A) c.203C>A (p.Ser68Tyr) c.1544C>A (p.Ser515Tyr) c.1055C>A (p.Ser352Tyr) | gnomAD v4 |
| 3 | g.93884773A>C | CA353667771 | PROS1 | c.1447T>G (p.Ser483Ala) c.1402T>G (p.Ser468Ala) n.1615T>G c.1405T>G (p.Ser469Ala) c.1546T>G (n.1546T>G) c.202T>G (p.Ser68Ala) c.1543T>G (p.Ser515Ala) c.1054T>G (p.Ser352Ala) | |
| 3 | g.93884773A>G | CA353667773 | PROS1 | c.1447T>C (p.Ser483Pro) c.1402T>C (p.Ser468Pro) n.1615T>C c.1405T>C (p.Ser469Pro) c.1546T>C (n.1546T>C) c.202T>C (p.Ser68Pro) c.1543T>C (p.Ser515Pro) c.1054T>C (p.Ser352Pro) | |
| 3 | g.93884773A>T | CA353667776 | PROS1 | c.1447T>A (p.Ser483Thr) c.1402T>A (p.Ser468Thr) n.1615T>A c.1405T>A (p.Ser469Thr) c.1546T>A (n.1546T>A) c.202T>A (p.Ser68Thr) c.1543T>A (p.Ser515Thr) c.1054T>A (p.Ser352Thr) | gnomAD v4 |
| 3 | g.93884774G>A | CA2503190 | PROS1 | c.1446C>T (p.Gly482=) c.1401C>T (p.Gly467=) n.1614C>T c.1404C>T (p.Gly468=) c.1545C>T (n.1545C>T) c.201C>T (p.Gly67=) c.1542C>T (p.Gly514=) c.1053C>T (p.Gly351=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.93884774G>C | CA434458914 | PROS1 | c.1446C>G (p.Gly482=) c.1401C>G (p.Gly467=) n.1614C>G c.1404C>G (p.Gly468=) c.1545C>G (n.1545C>G) c.201C>G (p.Gly67=) c.1542C>G (p.Gly514=) c.1053C>G (p.Gly351=) | |
| 3 | g.93884774G= | CA1385033056 | PROS1 | c.1446C= (p.Gly482=) c.1401C= (p.Gly467=) n.1614C= c.1404C= (p.Gly468=) c.1545C= (n.1545C=) c.201C= (p.Gly67=) c.1542C= (p.Gly514=) c.1053C= (p.Gly351=) | |
| 3 | g.93884774G>T | CA434458915 | PROS1 | c.1446C>A (p.Gly482=) c.1401C>A (p.Gly467=) n.1614C>A c.1404C>A (p.Gly468=) c.1545C>A (n.1545C>A) c.201C>A (p.Gly67=) c.1542C>A (p.Gly514=) c.1053C>A (p.Gly351=) | |
| 3 | g.93884775C>A | CA353667785 | PROS1 | c.1445G>T (p.Gly482Val) c.1400G>T (p.Gly467Val) n.1613G>T c.1403G>T (p.Gly468Val) c.1544G>T (n.1544G>T) c.200G>T (p.Gly67Val) c.1541G>T (p.Gly514Val) c.1052G>T (p.Gly351Val) | ClinVar |
| 3 | g.93884775C= | CA1385033057 | PROS1 | c.1445G= (p.Gly482=) c.1400G= (p.Gly467=) n.1613G= c.1403G= (p.Gly468=) c.1544G= (n.1544G=) c.200G= (p.Gly67=) c.1541G= (p.Gly514=) c.1052G= (p.Gly351=) | |
| 3 | g.93884775C>G | CA353667784 | PROS1 | c.1445G>C (p.Gly482Ala) c.1400G>C (p.Gly467Ala) n.1613G>C c.1403G>C (p.Gly468Ala) c.1544G>C (n.1544G>C) c.200G>C (p.Gly67Ala) c.1541G>C (p.Gly514Ala) c.1052G>C (p.Gly351Ala) | |
| 3 | g.93884775C>T | CA353667782 | PROS1 | c.1445G>A (p.Gly482Asp) c.1400G>A (p.Gly467Asp) n.1613G>A c.1403G>A (p.Gly468Asp) c.1544G>A (n.1544G>A) c.200G>A (p.Gly67Asp) c.1541G>A (p.Gly514Asp) c.1052G>A (p.Gly351Asp) | ClinVar dbSNP |
| 3 | g.93884776C>A | CA353667786 | PROS1 | c.1444G>T (p.Gly482Cys) c.1399G>T (p.Gly467Cys) n.1612G>T c.1402G>T (p.Gly468Cys) c.1543G>T (n.1543G>T) c.199G>T (p.Gly67Cys) c.1540G>T (p.Gly514Cys) c.1051G>T (p.Gly351Cys) | gnomAD v4 |
| 3 | g.93884776C= | CA1385033058 | PROS1 | c.1444G= (p.Gly482=) c.1399G= (p.Gly467=) n.1612G= c.1402G= (p.Gly468=) c.1543G= (n.1543G=) c.199G= (p.Gly67=) c.1540G= (p.Gly514=) c.1051G= (p.Gly351=) | |
| 3 | g.93884776C>G | CA353667787 | PROS1 | c.1444G>C (p.Gly482Arg) c.1399G>C (p.Gly467Arg) n.1612G>C c.1402G>C (p.Gly468Arg) c.1543G>C (n.1543G>C) c.199G>C (p.Gly67Arg) c.1540G>C (p.Gly514Arg) c.1051G>C (p.Gly351Arg) | |
| 3 | g.93884776C>T | CA2503191 | PROS1 | c.1444G>A (p.Gly482Ser) c.1399G>A (p.Gly467Ser) n.1612G>A c.1402G>A (p.Gly468Ser) c.1543G>A (n.1543G>A) c.199G>A (p.Gly67Ser) c.1540G>A (p.Gly514Ser) c.1051G>A (p.Gly351Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.93884777C>A | CA353667789 | PROS1 | c.1443G>T (p.Lys481Asn) c.1398G>T (p.Lys466Asn) n.1611G>T c.1401G>T (p.Lys467Asn) c.1542G>T (n.1542G>T) c.198G>T (p.Lys66Asn) c.1539G>T (p.Lys513Asn) c.1050G>T (p.Lys350Asn) | |
| 3 | g.93884777C>G | CA353667792 | PROS1 | c.1443G>C (p.Lys481Asn) c.1398G>C (p.Lys466Asn) n.1611G>C c.1401G>C (p.Lys467Asn) c.1542G>C (n.1542G>C) c.198G>C (p.Lys66Asn) c.1539G>C (p.Lys513Asn) c.1050G>C (p.Lys350Asn) | |
| 3 | g.93884777C>T | CA434458916 | PROS1 | c.1443G>A (p.Lys481=) c.1398G>A (p.Lys466=) n.1611G>A c.1401G>A (p.Lys467=) c.1542G>A (n.1542G>A) c.198G>A (p.Lys66=) c.1539G>A (p.Lys513=) c.1050G>A (p.Lys350=) | gnomAD v4 |
| 3 | g.93884778T>A | CA353667795 | PROS1 | c.1442A>T (p.Lys481Met) c.1397A>T (p.Lys466Met) n.1610A>T c.1400A>T (p.Lys467Met) c.1541A>T (n.1541A>T) c.197A>T (p.Lys66Met) c.1538A>T (p.Lys513Met) c.1049A>T (p.Lys350Met) | |
| 3 | g.93884778T>C | CA353667798 | PROS1 | c.1442A>G (p.Lys481Arg) c.1397A>G (p.Lys466Arg) n.1610A>G c.1400A>G (p.Lys467Arg) c.1541A>G (n.1541A>G) c.197A>G (p.Lys66Arg) c.1538A>G (p.Lys513Arg) c.1049A>G (p.Lys350Arg) | gnomAD v4 |
| 3 | g.93884778T>G | CA353667800 | PROS1 | c.1442A>C (p.Lys481Thr) c.1397A>C (p.Lys466Thr) n.1610A>C c.1400A>C (p.Lys467Thr) c.1541A>C (n.1541A>C) c.197A>C (p.Lys66Thr) c.1538A>C (p.Lys513Thr) c.1049A>C (p.Lys350Thr) | |
| 3 | g.93884779T>A | CA353667803 | PROS1 | c.1441A>T (p.Lys481Ter) c.1396A>T (p.Lys466Ter) n.1609A>T c.1399A>T (p.Lys467Ter) c.1540A>T (n.1540A>T) c.196A>T (p.Lys66Ter) c.1537A>T (p.Lys513Ter) c.1048A>T (p.Lys350Ter) | |
| 3 | g.93884779T>C | CA353667804 | PROS1 | c.1441A>G (p.Lys481Glu) c.1396A>G (p.Lys466Glu) n.1609A>G c.1399A>G (p.Lys467Glu) c.1540A>G (n.1540A>G) c.196A>G (p.Lys66Glu) c.1537A>G (p.Lys513Glu) c.1048A>G (p.Lys350Glu) | |
| 3 | g.93884779T>G | CA353667806 | PROS1 | c.1441A>C (p.Lys481Gln) c.1396A>C (p.Lys466Gln) n.1609A>C c.1399A>C (p.Lys467Gln) c.1540A>C (n.1540A>C) c.196A>C (p.Lys66Gln) c.1537A>C (p.Lys513Gln) c.1048A>C (p.Lys350Gln) | |
| 3 | g.93884780C>A | CA353667808 | PROS1 | c.1440G>T (p.Glu480Asp) c.1395G>T (p.Glu465Asp) n.1608G>T c.1398G>T (p.Glu466Asp) c.1539G>T (n.1539G>T) c.195G>T (p.Glu65Asp) c.1536G>T (p.Glu512Asp) c.1047G>T (p.Glu349Asp) | |
| 3 | g.93884780C>G | CA353667809 | PROS1 | c.1440G>C (p.Glu480Asp) c.1395G>C (p.Glu465Asp) n.1608G>C c.1398G>C (p.Glu466Asp) c.1539G>C (n.1539G>C) c.195G>C (p.Glu65Asp) c.1536G>C (p.Glu512Asp) c.1047G>C (p.Glu349Asp) | |
| 3 | g.93884780C>T | CA434458917 | PROS1 | c.1440G>A (p.Glu480=) c.1395G>A (p.Glu465=) n.1608G>A c.1398G>A (p.Glu466=) c.1539G>A (n.1539G>A) c.195G>A (p.Glu65=) c.1536G>A (p.Glu512=) c.1047G>A (p.Glu349=) | |
| 3 | g.93884781T>A | CA353667813 | PROS1 | c.1439A>T (p.Glu480Val) c.1394A>T (p.Glu465Val) n.1607A>T c.1397A>T (p.Glu466Val) c.1538A>T (n.1538A>T) c.194A>T (p.Glu65Val) c.1535A>T (p.Glu512Val) c.1046A>T (p.Glu349Val) | |
| 3 | g.93884781T>C | CA353667810 | PROS1 | c.1439A>G (p.Glu480Gly) c.1394A>G (p.Glu465Gly) n.1607A>G c.1397A>G (p.Glu466Gly) c.1538A>G (n.1538A>G) c.194A>G (p.Glu65Gly) c.1535A>G (p.Glu512Gly) c.1046A>G (p.Glu349Gly) | |
| 3 | g.93884781T>G | CA353667811 | PROS1 | c.1439A>C (p.Glu480Ala) c.1394A>C (p.Glu465Ala) n.1607A>C c.1397A>C (p.Glu466Ala) c.1538A>C (n.1538A>C) c.194A>C (p.Glu65Ala) c.1535A>C (p.Glu512Ala) c.1046A>C (p.Glu349Ala) | |
| 3 | g.93884781_93884783delinsTCC | CA1385033059 | PROS1 | c.1437_1439delinsGGA (p.Val479=) c.1392_1394delinsGGA (p.Val464=) n.1605_1607delinsGGA c.1395_1397delinsGGA (p.Val465=) c.1536_1538delinsGGA (n.1536_1538delinsGGA) c.192_194delinsGGA (p.Val64=) c.1533_1535delinsGGA (p.Val511=) c.1044_1046delinsGGA (p.Val348=) | |
| 3 | g.93884782C>A | CA353667819 | PROS1 | c.1438G>T (p.Glu480Ter) c.1393G>T (p.Glu465Ter) n.1606G>T c.1396G>T (p.Glu466Ter) c.1537G>T (n.1537G>T) c.193G>T (p.Glu65Ter) c.1534G>T (p.Glu512Ter) c.1045G>T (p.Glu349Ter) | |
| 3 | g.93884782C>G | CA353667821 | PROS1 | c.1438G>C (p.Glu480Gln) c.1393G>C (p.Glu465Gln) n.1606G>C c.1396G>C (p.Glu466Gln) c.1537G>C (n.1537G>C) c.193G>C (p.Glu65Gln) c.1534G>C (p.Glu512Gln) c.1045G>C (p.Glu349Gln) | COSMIC |
| 3 | g.93884782C>T | CA353667823 | PROS1 | c.1438G>A (p.Glu480Lys) c.1393G>A (p.Glu465Lys) n.1606G>A c.1396G>A (p.Glu466Lys) c.1537G>A (n.1537G>A) c.193G>A (p.Glu65Lys) c.1534G>A (p.Glu512Lys) c.1045G>A (p.Glu349Lys) | gnomAD v4 |
| 3 | g.93884782_93884783del | CA78477894 | PROS1 | c.1437_1438del (p.Lys481GlyfsTer17) c.1392_1393del (p.Lys466GlyfsTer17) n.1605_1606del c.1395_1396del (p.Lys467GlyfsTer17) c.1536_1537del (n.1536_1537del) c.192_193del (p.Lys66GlyfsTer17) c.1533_1534del (p.Lys513GlyfsTer17) c.1044_1045del (p.Lys350GlyfsTer17) | dbSNP |