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.38903990C>A | CA352164628 | SCN11A | c.1717G>T (p.Val573Leu) c.1537G>T (p.Val513Leu) c.1761G>T (n.1761G>T) c.1054G>T (p.Val352Leu) c.265G>T (p.Val89Leu) c.2092G>T (p.Val698Leu) c.1519G>T (p.Val507Leu) c.1444G>T (p.Val482Leu) c.121G>T (p.Val41Leu) | |
| 3 | g.38903990C= | CA1358721511 | SCN11A | c.1717G= (p.Val573=) c.1537G= (p.Val513=) c.1761G= (n.1761G=) c.1054G= (p.Val352=) c.265G= (p.Val89=) c.2092G= (p.Val698=) c.1519G= (p.Val507=) c.1444G= (p.Val482=) c.121G= (p.Val41=) | |
| 3 | g.38903990C>G | CA352164631 | SCN11A | c.1717G>C (p.Val573Leu) c.1537G>C (p.Val513Leu) c.1761G>C (n.1761G>C) c.1054G>C (p.Val352Leu) c.265G>C (p.Val89Leu) c.2092G>C (p.Val698Leu) c.1519G>C (p.Val507Leu) c.1444G>C (p.Val482Leu) c.121G>C (p.Val41Leu) | |
| 3 | g.38903990C>T | CA16617961 | SCN11A | c.1717G>A (p.Val573Met) c.1537G>A (p.Val513Met) c.1761G>A (n.1761G>A) c.1054G>A (p.Val352Met) c.265G>A (p.Val89Met) c.2092G>A (p.Val698Met) c.1519G>A (p.Val507Met) c.1444G>A (p.Val482Met) c.121G>A (p.Val41Met) | ClinVar dbSNP |
| 3 | g.38903991A>C | CA433336291 | SCN11A | c.1716T>G (p.Thr572=) c.1536T>G (p.Thr512=) c.1760T>G (n.1760T>G) c.1053T>G (p.Thr351=) c.264T>G (p.Thr88=) c.2091T>G (p.Thr697=) c.1518T>G (p.Thr506=) c.1443T>G (p.Thr481=) c.120T>G (p.Thr40=) | |
| 3 | g.38903991A>G | CA433336293 | SCN11A | c.1716T>C (p.Thr572=) c.1536T>C (p.Thr512=) c.1760T>C (n.1760T>C) c.1053T>C (p.Thr351=) c.264T>C (p.Thr88=) c.2091T>C (p.Thr697=) c.1518T>C (p.Thr506=) c.1443T>C (p.Thr481=) c.120T>C (p.Thr40=) | |
| 3 | g.38903991A>T | CA433336292 | SCN11A | c.1716T>A (p.Thr572=) c.1536T>A (p.Thr512=) c.1760T>A (n.1760T>A) c.1053T>A (p.Thr351=) c.264T>A (p.Thr88=) c.2091T>A (p.Thr697=) c.1518T>A (p.Thr506=) c.1443T>A (p.Thr481=) c.120T>A (p.Thr40=) | |
| 3 | g.38903992G>A | CA352164634 | SCN11A | c.1715C>T (p.Thr572Ile) c.1535C>T (p.Thr512Ile) c.1759C>T (n.1759C>T) c.1052C>T (p.Thr351Ile) c.263C>T (p.Thr88Ile) c.2090C>T (p.Thr697Ile) c.1517C>T (p.Thr506Ile) c.1442C>T (p.Thr481Ile) c.119C>T (p.Thr40Ile) | |
| 3 | g.38903992G>C | CA2322227 | SCN11A | c.1715C>G (p.Thr572Ser) c.1535C>G (p.Thr512Ser) c.1759C>G (n.1759C>G) c.1052C>G (p.Thr351Ser) c.263C>G (p.Thr88Ser) c.2090C>G (p.Thr697Ser) c.1517C>G (p.Thr506Ser) c.1442C>G (p.Thr481Ser) c.119C>G (p.Thr40Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38903992G= | CA1358721515 | SCN11A | c.1715C= (p.Thr572=) c.1535C= (p.Thr512=) c.1759C= (n.1759C=) c.1052C= (p.Thr351=) c.263C= (p.Thr88=) c.2090C= (p.Thr697=) c.1517C= (p.Thr506=) c.1442C= (p.Thr481=) c.119C= (p.Thr40=) | |
| 3 | g.38903992G>T | CA352164639 | SCN11A | c.1715C>A (p.Thr572Asn) c.1535C>A (p.Thr512Asn) c.1759C>A (n.1759C>A) c.1052C>A (p.Thr351Asn) c.263C>A (p.Thr88Asn) c.2090C>A (p.Thr697Asn) c.1517C>A (p.Thr506Asn) c.1442C>A (p.Thr481Asn) c.119C>A (p.Thr40Asn) | |
| 3 | g.38903993T>A | CA352164643 | SCN11A | c.1714A>T (p.Thr572Ser) c.1534A>T (p.Thr512Ser) c.1758A>T (n.1758A>T) c.1051A>T (p.Thr351Ser) c.262A>T (p.Thr88Ser) c.2089A>T (p.Thr697Ser) c.1516A>T (p.Thr506Ser) c.1441A>T (p.Thr481Ser) c.118A>T (p.Thr40Ser) | |
| 3 | g.38903993T>C | CA352164645 | SCN11A | c.1714A>G (p.Thr572Ala) c.1534A>G (p.Thr512Ala) c.1758A>G (n.1758A>G) c.1051A>G (p.Thr351Ala) c.262A>G (p.Thr88Ala) c.2089A>G (p.Thr697Ala) c.1516A>G (p.Thr506Ala) c.1441A>G (p.Thr481Ala) c.118A>G (p.Thr40Ala) | |
| 3 | g.38903993T>G | CA352164647 | SCN11A | c.1714A>C (p.Thr572Pro) c.1534A>C (p.Thr512Pro) c.1758A>C (n.1758A>C) c.1051A>C (p.Thr351Pro) c.262A>C (p.Thr88Pro) c.2089A>C (p.Thr697Pro) c.1516A>C (p.Thr506Pro) c.1441A>C (p.Thr481Pro) c.118A>C (p.Thr40Pro) | |
| 3 | g.38903994T>A | CA352164650 | SCN11A | c.1713A>T (p.Arg571Ser) c.1533A>T (p.Arg511Ser) c.1757A>T (n.1757A>T) c.1050A>T (p.Arg350Ser) c.261A>T (p.Arg87Ser) c.2088A>T (p.Arg696Ser) c.1515A>T (p.Arg505Ser) c.1440A>T (p.Arg480Ser) c.117A>T (p.Arg39Ser) | |
| 3 | g.38903994T>C | CA433336294 | SCN11A | c.1713A>G (p.Arg571=) c.1533A>G (p.Arg511=) c.1757A>G (n.1757A>G) c.1050A>G (p.Arg350=) c.261A>G (p.Arg87=) c.2088A>G (p.Arg696=) c.1515A>G (p.Arg505=) c.1440A>G (p.Arg480=) c.117A>G (p.Arg39=) | gnomAD v4 |
| 3 | g.38903994T>G | CA352164652 | SCN11A | c.1713A>C (p.Arg571Ser) c.1533A>C (p.Arg511Ser) c.1757A>C (n.1757A>C) c.1050A>C (p.Arg350Ser) c.261A>C (p.Arg87Ser) c.2088A>C (p.Arg696Ser) c.1515A>C (p.Arg505Ser) c.1440A>C (p.Arg480Ser) c.117A>C (p.Arg39Ser) | |
| 3 | g.38903995C>A | CA352164656 | SCN11A | c.1712G>T (p.Arg571Ile) c.1532G>T (p.Arg511Ile) c.1756G>T (n.1756G>T) c.1049G>T (p.Arg350Ile) c.260G>T (p.Arg87Ile) c.2087G>T (p.Arg696Ile) c.1514G>T (p.Arg505Ile) c.1439G>T (p.Arg480Ile) c.116G>T (p.Arg39Ile) | |
| 3 | g.38903995C= | CA1358721517 | SCN11A | c.1712G= (p.Arg571=) c.1532G= (p.Arg511=) c.1756G= (n.1756G=) c.1049G= (p.Arg350=) c.260G= (p.Arg87=) c.2087G= (p.Arg696=) c.1514G= (p.Arg505=) c.1439G= (p.Arg480=) c.116G= (p.Arg39=) | |
| 3 | g.38903995C>G | CA352164659 | SCN11A | c.1712G>C (p.Arg571Thr) c.1532G>C (p.Arg511Thr) c.1756G>C (n.1756G>C) c.1049G>C (p.Arg350Thr) c.260G>C (p.Arg87Thr) c.2087G>C (p.Arg696Thr) c.1514G>C (p.Arg505Thr) c.1439G>C (p.Arg480Thr) c.116G>C (p.Arg39Thr) | |
| 3 | g.38903995C>T | CA72961682 | SCN11A | c.1712G>A (p.Arg571Lys) c.1532G>A (p.Arg511Lys) c.1756G>A (n.1756G>A) c.1049G>A (p.Arg350Lys) c.260G>A (p.Arg87Lys) c.2087G>A (p.Arg696Lys) c.1514G>A (p.Arg505Lys) c.1439G>A (p.Arg480Lys) c.116G>A (p.Arg39Lys) | dbSNP COSMIC |
| 3 | g.38903996T>A | CA352164665 | SCN11A | c.1711A>T (p.Arg571Ter) c.1531A>T (p.Arg511Ter) c.1755A>T (n.1755A>T) c.1048A>T (p.Arg350Ter) c.259A>T (p.Arg87Ter) c.2086A>T (p.Arg696Ter) c.1513A>T (p.Arg505Ter) c.1438A>T (p.Arg480Ter) c.115A>T (p.Arg39Ter) | dbSNP |
| 3 | g.38903996T>C | CA352164667 | SCN11A | c.1711A>G (p.Arg571Gly) c.1531A>G (p.Arg511Gly) c.1755A>G (n.1755A>G) c.1048A>G (p.Arg350Gly) c.259A>G (p.Arg87Gly) c.2086A>G (p.Arg696Gly) c.1513A>G (p.Arg505Gly) c.1438A>G (p.Arg480Gly) c.115A>G (p.Arg39Gly) | |
| 3 | g.38903996T>G | CA433336295 | SCN11A | c.1711A>C (p.Arg571=) c.1531A>C (p.Arg511=) c.1755A>C (n.1755A>C) c.1048A>C (p.Arg350=) c.259A>C (p.Arg87=) c.2086A>C (p.Arg696=) c.1513A>C (p.Arg505=) c.1438A>C (p.Arg480=) c.115A>C (p.Arg39=) | |
| 3 | g.38903996T= | CA1358721520 | SCN11A | c.1711A= (p.Arg571=) c.1531A= (p.Arg511=) c.1755A= (n.1755A=) c.1048A= (p.Arg350=) c.259A= (p.Arg87=) c.2086A= (p.Arg696=) c.1513A= (p.Arg505=) c.1438A= (p.Arg480=) c.115A= (p.Arg39=) | |
| 3 | g.38903996_38903997delinsTC | CA1358721521 | SCN11A | c.1710_1711delinsGA (p.Leu570=) c.1530_1531delinsGA (p.Leu510=) c.1754_1755delinsGA (n.1754_1755delinsGA) c.1047_1048delinsGA (p.Leu349=) c.258_259delinsGA (p.Leu86=) c.2085_2086delinsGA (p.Leu695=) c.1512_1513delinsGA (p.Leu504=) c.1437_1438delinsGA (p.Leu479=) c.114_115delinsGA (p.Leu38=) | |
| 3 | g.38903997del | CA1358721524 | SCN11A | c.1710del (p.Arg571GlufsTer3) c.1530del (p.Arg511GlufsTer3) c.1754del (n.1754del) c.1047del (p.Arg350GlufsTer3) c.258del (p.Arg87GlufsTer3) c.2085del (p.Arg696GlufsTer3) c.1512del (p.Arg505GlufsTer3) c.1437del (p.Arg480GlufsTer3) c.114del (p.Arg39GlufsTer3) | ClinVar dbSNP |
| 3 | g.38903997C>A | CA433336296 | SCN11A | c.1710G>T (p.Leu570=) c.1530G>T (p.Leu510=) c.1754G>T (n.1754G>T) c.1047G>T (p.Leu349=) c.258G>T (p.Leu86=) c.2085G>T (p.Leu695=) c.1512G>T (p.Leu504=) c.1437G>T (p.Leu479=) c.114G>T (p.Leu38=) | |
| 3 | g.38903997C>G | CA433336297 | SCN11A | c.1710G>C (p.Leu570=) c.1530G>C (p.Leu510=) c.1754G>C (n.1754G>C) c.1047G>C (p.Leu349=) c.258G>C (p.Leu86=) c.2085G>C (p.Leu695=) c.1512G>C (p.Leu504=) c.1437G>C (p.Leu479=) c.114G>C (p.Leu38=) | |
| 3 | g.38903997C>T | CA433336298 | SCN11A | c.1710G>A (p.Leu570=) c.1530G>A (p.Leu510=) c.1754G>A (n.1754G>A) c.1047G>A (p.Leu349=) c.258G>A (p.Leu86=) c.2085G>A (p.Leu695=) c.1512G>A (p.Leu504=) c.1437G>A (p.Leu479=) c.114G>A (p.Leu38=) | |
| 3 | g.38903998A>C | CA352164674 | SCN11A | c.1709T>G (p.Leu570Arg) c.1529T>G (p.Leu510Arg) c.1753T>G (n.1753T>G) c.1046T>G (p.Leu349Arg) c.257T>G (p.Leu86Arg) c.2084T>G (p.Leu695Arg) c.1511T>G (p.Leu504Arg) c.1436T>G (p.Leu479Arg) c.113T>G (p.Leu38Arg) | |
| 3 | g.38903998A>G | CA352164672 | SCN11A | c.1709T>C (p.Leu570Pro) c.1529T>C (p.Leu510Pro) c.1753T>C (n.1753T>C) c.1046T>C (p.Leu349Pro) c.257T>C (p.Leu86Pro) c.2084T>C (p.Leu695Pro) c.1511T>C (p.Leu504Pro) c.1436T>C (p.Leu479Pro) c.113T>C (p.Leu38Pro) | |
| 3 | g.38903998A>T | CA352164670 | SCN11A | c.1709T>A (p.Leu570Gln) c.1529T>A (p.Leu510Gln) c.1753T>A (n.1753T>A) c.1046T>A (p.Leu349Gln) c.257T>A (p.Leu86Gln) c.2084T>A (p.Leu695Gln) c.1511T>A (p.Leu504Gln) c.1436T>A (p.Leu479Gln) c.113T>A (p.Leu38Gln) | |
| 3 | g.38903999G>A | CA433336299 | SCN11A | c.1708C>T (p.Leu570=) c.1528C>T (p.Leu510=) c.1752C>T (n.1752C>T) c.1045C>T (p.Leu349=) c.256C>T (p.Leu86=) c.2083C>T (p.Leu695=) c.1510C>T (p.Leu504=) c.1435C>T (p.Leu479=) c.112C>T (p.Leu38=) | |
| 3 | g.38903999G>C | CA352164677 | SCN11A | c.1708C>G (p.Leu570Val) c.1528C>G (p.Leu510Val) c.1752C>G (n.1752C>G) c.1045C>G (p.Leu349Val) c.256C>G (p.Leu86Val) c.2083C>G (p.Leu695Val) c.1510C>G (p.Leu504Val) c.1435C>G (p.Leu479Val) c.112C>G (p.Leu38Val) | gnomAD v4 |
| 3 | g.38903999G>T | CA352164679 | SCN11A | c.1708C>A (p.Leu570Met) c.1528C>A (p.Leu510Met) c.1752C>A (n.1752C>A) c.1045C>A (p.Leu349Met) c.256C>A (p.Leu86Met) c.2083C>A (p.Leu695Met) c.1510C>A (p.Leu504Met) c.1435C>A (p.Leu479Met) c.112C>A (p.Leu38Met) | |
| 3 | g.38904000G>A | CA433336300 | SCN11A | c.1707C>T (p.Val569=) c.1527C>T (p.Val509=) c.1751C>T (n.1751C>T) c.1044C>T (p.Val348=) c.255C>T (p.Val85=) c.2082C>T (p.Val694=) c.1509C>T (p.Val503=) c.1434C>T (p.Val478=) c.111C>T (p.Val37=) | dbSNP gnomAD v4 |
| 3 | g.38904000G>C | CA433336301 | SCN11A | c.1707C>G (p.Val569=) c.1527C>G (p.Val509=) c.1751C>G (n.1751C>G) c.1044C>G (p.Val348=) c.255C>G (p.Val85=) c.2082C>G (p.Val694=) c.1509C>G (p.Val503=) c.1434C>G (p.Val478=) c.111C>G (p.Val37=) | |
| 3 | g.38904000G= | CA1358721526 | SCN11A | c.1707C= (p.Val569=) c.1527C= (p.Val509=) c.1751C= (n.1751C=) c.1044C= (p.Val348=) c.255C= (p.Val85=) c.2082C= (p.Val694=) c.1509C= (p.Val503=) c.1434C= (p.Val478=) c.111C= (p.Val37=) | |
| 3 | g.38904000G>T | CA433336302 | SCN11A | c.1707C>A (p.Val569=) c.1527C>A (p.Val509=) c.1751C>A (n.1751C>A) c.1044C>A (p.Val348=) c.255C>A (p.Val85=) c.2082C>A (p.Val694=) c.1509C>A (p.Val503=) c.1434C>A (p.Val478=) c.111C>A (p.Val37=) | |
| 3 | g.38904001A>C | CA352164683 | SCN11A | c.1706T>G (p.Val569Gly) c.1526T>G (p.Val509Gly) c.1750T>G (n.1750T>G) c.1043T>G (p.Val348Gly) c.254T>G (p.Val85Gly) c.2081T>G (p.Val694Gly) c.1508T>G (p.Val503Gly) c.1433T>G (p.Val478Gly) c.110T>G (p.Val37Gly) | |
| 3 | g.38904001A>G | CA352164686 | SCN11A | c.1706T>C (p.Val569Ala) c.1526T>C (p.Val509Ala) c.1750T>C (n.1750T>C) c.1043T>C (p.Val348Ala) c.254T>C (p.Val85Ala) c.2081T>C (p.Val694Ala) c.1508T>C (p.Val503Ala) c.1433T>C (p.Val478Ala) c.110T>C (p.Val37Ala) | gnomAD v4 |
| 3 | g.38904001A>T | CA352164689 | SCN11A | c.1706T>A (p.Val569Asp) c.1526T>A (p.Val509Asp) c.1750T>A (n.1750T>A) c.1043T>A (p.Val348Asp) c.254T>A (p.Val85Asp) c.2081T>A (p.Val694Asp) c.1508T>A (p.Val503Asp) c.1433T>A (p.Val478Asp) c.110T>A (p.Val37Asp) | |
| 3 | g.38904002C>A | CA352164692 | SCN11A | c.1705G>T (p.Val569Phe) c.1525G>T (p.Val509Phe) c.1749G>T (n.1749G>T) c.1042G>T (p.Val348Phe) c.253G>T (p.Val85Phe) c.2080G>T (p.Val694Phe) c.1507G>T (p.Val503Phe) c.1432G>T (p.Val478Phe) c.109G>T (p.Val37Phe) | dbSNP gnomAD v2 |
| 3 | g.38904002C= | CA1358721528 | SCN11A | c.1705G= (p.Val569=) c.1525G= (p.Val509=) c.1749G= (n.1749G=) c.1042G= (p.Val348=) c.253G= (p.Val85=) c.2080G= (p.Val694=) c.1507G= (p.Val503=) c.1432G= (p.Val478=) c.109G= (p.Val37=) | |
| 3 | g.38904002C>G | CA352164694 | SCN11A | c.1705G>C (p.Val569Leu) c.1525G>C (p.Val509Leu) c.1749G>C (n.1749G>C) c.1042G>C (p.Val348Leu) c.253G>C (p.Val85Leu) c.2080G>C (p.Val694Leu) c.1507G>C (p.Val503Leu) c.1432G>C (p.Val478Leu) c.109G>C (p.Val37Leu) | |
| 3 | g.38904002C>T | CA352164697 | SCN11A | c.1705G>A (p.Val569Ile) c.1525G>A (p.Val509Ile) c.1749G>A (n.1749G>A) c.1042G>A (p.Val348Ile) c.253G>A (p.Val85Ile) c.2080G>A (p.Val694Ile) c.1507G>A (p.Val503Ile) c.1432G>A (p.Val478Ile) c.109G>A (p.Val37Ile) | |
| 3 | g.38904003C>A | CA352164699 | SCN11A | c.1704G>T (p.Lys568Asn) c.1524G>T (p.Lys508Asn) c.1748G>T (n.1748G>T) c.1041G>T (p.Lys347Asn) c.252G>T (p.Lys84Asn) c.2079G>T (p.Lys693Asn) c.1506G>T (p.Lys502Asn) c.1431G>T (p.Lys477Asn) c.108G>T (p.Lys36Asn) | |
| 3 | g.38904003C>G | CA352164701 | SCN11A | c.1704G>C (p.Lys568Asn) c.1524G>C (p.Lys508Asn) c.1748G>C (n.1748G>C) c.1041G>C (p.Lys347Asn) c.252G>C (p.Lys84Asn) c.2079G>C (p.Lys693Asn) c.1506G>C (p.Lys502Asn) c.1431G>C (p.Lys477Asn) c.108G>C (p.Lys36Asn) | |
| 3 | g.38904003C>T | CA433336303 | SCN11A | c.1704G>A (p.Lys568=) c.1524G>A (p.Lys508=) c.1748G>A (n.1748G>A) c.1041G>A (p.Lys347=) c.252G>A (p.Lys84=) c.2079G>A (p.Lys693=) c.1506G>A (p.Lys502=) c.1431G>A (p.Lys477=) c.108G>A (p.Lys36=) | gnomAD v4 |