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.38551360T>A | CA352142760 | SCN5A | c.5009A>T (p.Tyr1670Phe) c.5012A>T (p.Tyr1671Phe) c.4958A>T (p.Tyr1653Phe) c.4850A>T (p.Tyr1617Phe) c.4913A>T (p.Tyr1638Phe) c.4883A>T (p.Tyr1628Phe) c.4955A>T (p.Tyr1652Phe) | |
| 3 | g.38551360T>C | CA352142763 | SCN5A | c.5009A>G (p.Tyr1670Cys) c.5012A>G (p.Tyr1671Cys) c.4958A>G (p.Tyr1653Cys) c.4850A>G (p.Tyr1617Cys) c.4913A>G (p.Tyr1638Cys) c.4883A>G (p.Tyr1628Cys) c.4955A>G (p.Tyr1652Cys) | |
| 3 | g.38551360T>G | CA352142761 | SCN5A | c.5009A>C (p.Tyr1670Ser) c.5012A>C (p.Tyr1671Ser) c.4958A>C (p.Tyr1653Ser) c.4850A>C (p.Tyr1617Ser) c.4913A>C (p.Tyr1638Ser) c.4883A>C (p.Tyr1628Ser) c.4955A>C (p.Tyr1652Ser) | |
| 3 | g.38551361A>C | CA352142765 | SCN5A | c.5008T>G (p.Tyr1670Asp) c.5011T>G (p.Tyr1671Asp) c.4957T>G (p.Tyr1653Asp) c.4849T>G (p.Tyr1617Asp) c.4912T>G (p.Tyr1638Asp) c.4882T>G (p.Tyr1628Asp) c.4954T>G (p.Tyr1652Asp) | |
| 3 | g.38551361A>G | CA352142767 | SCN5A | c.5008T>C (p.Tyr1670His) c.5011T>C (p.Tyr1671His) c.4957T>C (p.Tyr1653His) c.4849T>C (p.Tyr1617His) c.4912T>C (p.Tyr1638His) c.4882T>C (p.Tyr1628His) c.4954T>C (p.Tyr1652His) | |
| 3 | g.38551361A>T | CA352142768 | SCN5A | c.5008T>A (p.Tyr1670Asn) c.5011T>A (p.Tyr1671Asn) c.4957T>A (p.Tyr1653Asn) c.4849T>A (p.Tyr1617Asn) c.4912T>A (p.Tyr1638Asn) c.4882T>A (p.Tyr1628Asn) c.4954T>A (p.Tyr1652Asn) | |
| 3 | g.38551362G>A | CA433332129 | SCN5A | c.5007C>T (p.Ile1669=) c.5010C>T (p.Ile1670=) c.4956C>T (p.Ile1652=) c.4848C>T (p.Ile1616=) c.4911C>T (p.Ile1637=) c.4881C>T (p.Ile1627=) c.4953C>T (p.Ile1651=) | gnomAD v4 |
| 3 | g.38551362G>C | CA352142771 | SCN5A | c.5007C>G (p.Ile1669Met) c.5010C>G (p.Ile1670Met) c.4956C>G (p.Ile1652Met) c.4848C>G (p.Ile1616Met) c.4911C>G (p.Ile1637Met) c.4881C>G (p.Ile1627Met) c.4953C>G (p.Ile1651Met) | |
| 3 | g.38551362G>T | CA433332130 | SCN5A | c.5007C>A (p.Ile1669=) c.5010C>A (p.Ile1670=) c.4956C>A (p.Ile1652=) c.4848C>A (p.Ile1616=) c.4911C>A (p.Ile1637=) c.4881C>A (p.Ile1627=) c.4953C>A (p.Ile1651=) | |
| 3 | g.38551363A= | CA1358557916 | SCN5A | c.5006T= (p.Ile1669=) c.5009T= (p.Ile1670=) c.4955T= (p.Ile1652=) c.4847T= (p.Ile1616=) c.4910T= (p.Ile1637=) c.4880T= (p.Ile1627=) c.4952T= (p.Ile1651=) | |
| 3 | g.38551363A>C | CA352142773 | SCN5A | c.5006T>G (p.Ile1669Ser) c.5009T>G (p.Ile1670Ser) c.4955T>G (p.Ile1652Ser) c.4847T>G (p.Ile1616Ser) c.4910T>G (p.Ile1637Ser) c.4880T>G (p.Ile1627Ser) c.4952T>G (p.Ile1651Ser) | |
| 3 | g.38551363A>G | CA018843 | SCN5A | c.5006T>C (p.Ile1669Thr) c.5009T>C (p.Ile1670Thr) c.4955T>C (p.Ile1652Thr) c.4847T>C (p.Ile1616Thr) c.4910T>C (p.Ile1637Thr) c.4880T>C (p.Ile1627Thr) c.4952T>C (p.Ile1651Thr) | ClinVar dbSNP |
| 3 | g.38551363A>T | CA352142776 | SCN5A | c.5006T>A (p.Ile1669Asn) c.5009T>A (p.Ile1670Asn) c.4955T>A (p.Ile1652Asn) c.4847T>A (p.Ile1616Asn) c.4910T>A (p.Ile1637Asn) c.4880T>A (p.Ile1627Asn) c.4952T>A (p.Ile1651Asn) | |
| 3 | g.38551364T>A | CA352142777 | SCN5A | c.5005A>T (p.Ile1669Phe) c.5008A>T (p.Ile1670Phe) c.4954A>T (p.Ile1652Phe) c.4846A>T (p.Ile1616Phe) c.4909A>T (p.Ile1637Phe) c.4879A>T (p.Ile1627Phe) c.4951A>T (p.Ile1651Phe) | |
| 3 | g.38551364T>C | CA352142778 | SCN5A | c.5005A>G (p.Ile1669Val) c.5008A>G (p.Ile1670Val) c.4954A>G (p.Ile1652Val) c.4846A>G (p.Ile1616Val) c.4909A>G (p.Ile1637Val) c.4879A>G (p.Ile1627Val) c.4951A>G (p.Ile1651Val) | gnomAD v4 |
| 3 | g.38551364T>G | CA352142780 | SCN5A | c.5005A>C (p.Ile1669Leu) c.5008A>C (p.Ile1670Leu) c.4954A>C (p.Ile1652Leu) c.4846A>C (p.Ile1616Leu) c.4909A>C (p.Ile1637Leu) c.4879A>C (p.Ile1627Leu) c.4951A>C (p.Ile1651Leu) | |
| 3 | g.38551365G>A | CA433332134 | SCN5A | c.5004C>T (p.Phe1668=) c.5007C>T (p.Phe1669=) c.4953C>T (p.Phe1651=) c.4845C>T (p.Phe1615=) c.4908C>T (p.Phe1636=) c.4878C>T (p.Phe1626=) c.4950C>T (p.Phe1650=) | ClinVar |
| 3 | g.38551365G>C | CA352142782 | SCN5A | c.5004C>G (p.Phe1668Leu) c.5007C>G (p.Phe1669Leu) c.4953C>G (p.Phe1651Leu) c.4845C>G (p.Phe1615Leu) c.4908C>G (p.Phe1636Leu) c.4878C>G (p.Phe1626Leu) c.4950C>G (p.Phe1650Leu) | |
| 3 | g.38551365G= | CA1358557920 | SCN5A | c.5004C= (p.Phe1668=) c.5007C= (p.Phe1669=) c.4953C= (p.Phe1651=) c.4845C= (p.Phe1615=) c.4908C= (p.Phe1636=) c.4878C= (p.Phe1626=) c.4950C= (p.Phe1650=) | |
| 3 | g.38551365G>T | CA72938220 | SCN5A | c.5004C>A (p.Phe1668Leu) c.5007C>A (p.Phe1669Leu) c.4953C>A (p.Phe1651Leu) c.4845C>A (p.Phe1615Leu) c.4908C>A (p.Phe1636Leu) c.4878C>A (p.Phe1626Leu) c.4950C>A (p.Phe1650Leu) | ClinVar dbSNP |
| 3 | g.38551366A>C | CA352142789 | SCN5A | c.5003T>G (p.Phe1668Cys) c.5006T>G (p.Phe1669Cys) c.4952T>G (p.Phe1651Cys) c.4844T>G (p.Phe1615Cys) c.4907T>G (p.Phe1636Cys) c.4877T>G (p.Phe1626Cys) c.4949T>G (p.Phe1650Cys) | |
| 3 | g.38551366A>G | CA352142787 | SCN5A | c.5003T>C (p.Phe1668Ser) c.5006T>C (p.Phe1669Ser) c.4952T>C (p.Phe1651Ser) c.4844T>C (p.Phe1615Ser) c.4907T>C (p.Phe1636Ser) c.4877T>C (p.Phe1626Ser) c.4949T>C (p.Phe1650Ser) | |
| 3 | g.38551366A>T | CA352142785 | SCN5A | c.5003T>A (p.Phe1668Tyr) c.5006T>A (p.Phe1669Tyr) c.4952T>A (p.Phe1651Tyr) c.4844T>A (p.Phe1615Tyr) c.4907T>A (p.Phe1636Tyr) c.4877T>A (p.Phe1626Tyr) c.4949T>A (p.Phe1650Tyr) | |
| 3 | g.38551367A>C | CA352142791 | SCN5A | c.5002T>G (p.Phe1668Val) c.5005T>G (p.Phe1669Val) c.4951T>G (p.Phe1651Val) c.4843T>G (p.Phe1615Val) c.4906T>G (p.Phe1636Val) c.4876T>G (p.Phe1626Val) c.4948T>G (p.Phe1650Val) | |
| 3 | g.38551367A>G | CA352142793 | SCN5A | c.5002T>C (p.Phe1668Leu) c.5005T>C (p.Phe1669Leu) c.4951T>C (p.Phe1651Leu) c.4843T>C (p.Phe1615Leu) c.4906T>C (p.Phe1636Leu) c.4876T>C (p.Phe1626Leu) c.4948T>C (p.Phe1650Leu) | |
| 3 | g.38551367A>T | CA352142795 | SCN5A | c.5002T>A (p.Phe1668Ile) c.5005T>A (p.Phe1669Ile) c.4951T>A (p.Phe1651Ile) c.4843T>A (p.Phe1615Ile) c.4906T>A (p.Phe1636Ile) c.4876T>A (p.Phe1626Ile) c.4948T>A (p.Phe1650Ile) | |
| 3 | g.38551368C>A | CA352142797 | SCN5A | c.5001G>T (p.Met1667Ile) c.5004G>T (p.Met1668Ile) c.4950G>T (p.Met1650Ile) c.4842G>T (p.Met1614Ile) c.4905G>T (p.Met1635Ile) c.4875G>T (p.Met1625Ile) c.4947G>T (p.Met1649Ile) | |
| 3 | g.38551368C>G | CA352142799 | SCN5A | c.5001G>C (p.Met1667Ile) c.5004G>C (p.Met1668Ile) c.4950G>C (p.Met1650Ile) c.4842G>C (p.Met1614Ile) c.4905G>C (p.Met1635Ile) c.4875G>C (p.Met1625Ile) c.4947G>C (p.Met1649Ile) | |
| 3 | g.38551368C>T | CA352142801 | SCN5A | c.5001G>A (p.Met1667Ile) c.5004G>A (p.Met1668Ile) c.4950G>A (p.Met1650Ile) c.4842G>A (p.Met1614Ile) c.4905G>A (p.Met1635Ile) c.4875G>A (p.Met1625Ile) c.4947G>A (p.Met1649Ile) | |
| 3 | g.38551369A= | CA1358557925 | SCN5A | c.5000T= (p.Met1667=) c.5003T= (p.Met1668=) c.4949T= (p.Met1650=) c.4841T= (p.Met1614=) c.4904T= (p.Met1635=) c.4874T= (p.Met1625=) c.4946T= (p.Met1649=) | |
| 3 | g.38551369A>C | CA352142802 | SCN5A | c.5000T>G (p.Met1667Arg) c.5003T>G (p.Met1668Arg) c.4949T>G (p.Met1650Arg) c.4841T>G (p.Met1614Arg) c.4904T>G (p.Met1635Arg) c.4874T>G (p.Met1625Arg) c.4946T>G (p.Met1649Arg) | |
| 3 | g.38551369A>G | CA064059 | SCN5A | c.5000T>C (p.Met1667Thr) c.5003T>C (p.Met1668Thr) c.4949T>C (p.Met1650Thr) c.4841T>C (p.Met1614Thr) c.4904T>C (p.Met1635Thr) c.4874T>C (p.Met1625Thr) c.4946T>C (p.Met1649Thr) | ClinVar dbSNP ExAC |
| 3 | g.38551369A>T | CA352142803 | SCN5A | c.5000T>A (p.Met1667Lys) c.5003T>A (p.Met1668Lys) c.4949T>A (p.Met1650Lys) c.4841T>A (p.Met1614Lys) c.4904T>A (p.Met1635Lys) c.4874T>A (p.Met1625Lys) c.4946T>A (p.Met1649Lys) | |
| 3 | g.38551370T>A | CA352142804 | SCN5A | c.4999A>T (p.Met1667Leu) c.5002A>T (p.Met1668Leu) c.4948A>T (p.Met1650Leu) c.4840A>T (p.Met1614Leu) c.4903A>T (p.Met1635Leu) c.4873A>T (p.Met1625Leu) c.4945A>T (p.Met1649Leu) | gnomAD v4 |
| 3 | g.38551370T>C | CA352142805 | SCN5A | c.4999A>G (p.Met1667Val) c.5002A>G (p.Met1668Val) c.4948A>G (p.Met1650Val) c.4840A>G (p.Met1614Val) c.4903A>G (p.Met1635Val) c.4873A>G (p.Met1625Val) c.4945A>G (p.Met1649Val) | dbSNP gnomAD v4 |
| 3 | g.38551370T>G | CA352142806 | SCN5A | c.4999A>C (p.Met1667Leu) c.5002A>C (p.Met1668Leu) c.4948A>C (p.Met1650Leu) c.4840A>C (p.Met1614Leu) c.4903A>C (p.Met1635Leu) c.4873A>C (p.Met1625Leu) c.4945A>C (p.Met1649Leu) | |
| 3 | g.38551370T= | CA1358557930 | SCN5A | c.4999A= (p.Met1667=) c.5002A= (p.Met1668=) c.4948A= (p.Met1650=) c.4840A= (p.Met1614=) c.4903A= (p.Met1635=) c.4873A= (p.Met1625=) c.4945A= (p.Met1649=) | |
| 3 | g.38551371G>A | CA433332140 | SCN5A | c.4998C>T (p.Val1666=) c.5001C>T (p.Val1667=) c.4947C>T (p.Val1649=) c.4839C>T (p.Val1613=) c.4902C>T (p.Val1634=) c.4872C>T (p.Val1624=) c.4944C>T (p.Val1648=) | |
| 3 | g.38551371G>C | CA433332142 | SCN5A | c.4998C>G (p.Val1666=) c.5001C>G (p.Val1667=) c.4947C>G (p.Val1649=) c.4839C>G (p.Val1613=) c.4902C>G (p.Val1634=) c.4872C>G (p.Val1624=) c.4944C>G (p.Val1648=) | |
| 3 | g.38551371G>T | CA433332141 | SCN5A | c.4998C>A (p.Val1666=) c.5001C>A (p.Val1667=) c.4947C>A (p.Val1649=) c.4839C>A (p.Val1613=) c.4902C>A (p.Val1634=) c.4872C>A (p.Val1624=) c.4944C>A (p.Val1648=) | |
| 3 | g.38551372A= | CA1358557932 | SCN5A | c.4997T= (p.Val1666=) c.5000T= (p.Val1667=) c.4946T= (p.Val1649=) c.4838T= (p.Val1613=) c.4901T= (p.Val1634=) c.4871T= (p.Val1624=) c.4943T= (p.Val1648=) | |
| 3 | g.38551372A>C | CA352142808 | SCN5A | c.4997T>G (p.Val1666Gly) c.5000T>G (p.Val1667Gly) c.4946T>G (p.Val1649Gly) c.4838T>G (p.Val1613Gly) c.4901T>G (p.Val1634Gly) c.4871T>G (p.Val1624Gly) c.4943T>G (p.Val1648Gly) | |
| 3 | g.38551372A>G | CA72938222 | SCN5A | c.4997T>C (p.Val1666Ala) c.5000T>C (p.Val1667Ala) c.4946T>C (p.Val1649Ala) c.4838T>C (p.Val1613Ala) c.4901T>C (p.Val1634Ala) c.4871T>C (p.Val1624Ala) c.4943T>C (p.Val1648Ala) | dbSNP gnomAD v4 |
| 3 | g.38551372A>T | CA352142807 | SCN5A | c.4997T>A (p.Val1666Asp) c.5000T>A (p.Val1667Asp) c.4946T>A (p.Val1649Asp) c.4838T>A (p.Val1613Asp) c.4901T>A (p.Val1634Asp) c.4871T>A (p.Val1624Asp) c.4943T>A (p.Val1648Asp) | |
| 3 | g.38551373C>A | CA352142809 | SCN5A | c.4996G>T (p.Val1666Phe) c.4999G>T (p.Val1667Phe) c.4945G>T (p.Val1649Phe) c.4837G>T (p.Val1613Phe) c.4900G>T (p.Val1634Phe) c.4870G>T (p.Val1624Phe) c.4942G>T (p.Val1648Phe) | |
| 3 | g.38551373C= | CA1358557938 | SCN5A | c.4996G= (p.Val1666=) c.4999G= (p.Val1667=) c.4945G= (p.Val1649=) c.4837G= (p.Val1613=) c.4900G= (p.Val1634=) c.4870G= (p.Val1624=) c.4942G= (p.Val1648=) | |
| 3 | g.38551373C>G | CA018830 | SCN5A | c.4996G>C (p.Val1666Leu) c.4999G>C (p.Val1667Leu) c.4945G>C (p.Val1649Leu) c.4837G>C (p.Val1613Leu) c.4900G>C (p.Val1634Leu) c.4870G>C (p.Val1624Leu) c.4942G>C (p.Val1648Leu) | ClinVar dbSNP |
| 3 | g.38551373C>T | CA018825 | SCN5A | c.4996G>A (p.Val1666Ile) c.4999G>A (p.Val1667Ile) c.4945G>A (p.Val1649Ile) c.4837G>A (p.Val1613Ile) c.4900G>A (p.Val1634Ile) c.4870G>A (p.Val1624Ile) c.4942G>A (p.Val1648Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38551374G>A | CA064050 | SCN5A | c.4995C>T (p.Leu1665=) c.4998C>T (p.Leu1666=) c.4944C>T (p.Leu1648=) c.4836C>T (p.Leu1612=) c.4899C>T (p.Leu1633=) c.4869C>T (p.Leu1623=) c.4941C>T (p.Leu1647=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38551374G>C | CA433332147 | SCN5A | c.4995C>G (p.Leu1665=) c.4998C>G (p.Leu1666=) c.4944C>G (p.Leu1648=) c.4836C>G (p.Leu1612=) c.4899C>G (p.Leu1633=) c.4869C>G (p.Leu1623=) c.4941C>G (p.Leu1647=) |