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.38551493G>A | CA433134287 | SCN5A | c.4876C>T (p.Leu1626=) c.4879C>T (p.Leu1627=) c.4825C>T (p.Leu1609=) c.4717C>T (p.Leu1573=) c.4780C>T (p.Leu1594=) c.4750C>T (p.Leu1584=) c.4822C>T (p.Leu1608=) | |
| 3 | g.38551493G>C | CA352143038 | SCN5A | c.4876C>G (p.Leu1626Val) c.4879C>G (p.Leu1627Val) c.4825C>G (p.Leu1609Val) c.4717C>G (p.Leu1573Val) c.4780C>G (p.Leu1594Val) c.4750C>G (p.Leu1584Val) c.4822C>G (p.Leu1608Val) | gnomAD v4 |
| 3 | g.38551493G>T | CA352143039 | SCN5A | c.4876C>A (p.Leu1626Met) c.4879C>A (p.Leu1627Met) c.4825C>A (p.Leu1609Met) c.4717C>A (p.Leu1573Met) c.4780C>A (p.Leu1594Met) c.4750C>A (p.Leu1584Met) c.4822C>A (p.Leu1608Met) | |
| 3 | g.38551494del | CA2586965832 | SCN5A | c.4876del (p.Leu1626TrpfsTer4) c.4879del (p.Leu1627TrpfsTer4) c.4825del (p.Leu1609TrpfsTer4) c.4717del (p.Leu1573TrpfsTer4) c.4780del (p.Leu1594TrpfsTer4) c.4750del (p.Leu1584TrpfsTer4) c.4822del (p.Leu1608TrpfsTer4) | |
| 3 | g.38551494G>A | CA433134288 | SCN5A | c.4875C>T (p.Arg1625=) c.4878C>T (p.Arg1626=) c.4824C>T (p.Arg1608=) c.4716C>T (p.Arg1572=) c.4779C>T (p.Arg1593=) c.4749C>T (p.Arg1583=) c.4821C>T (p.Arg1607=) | |
| 3 | g.38551494G>C | CA433134290 | SCN5A | c.4875C>G (p.Arg1625=) c.4878C>G (p.Arg1626=) c.4824C>G (p.Arg1608=) c.4716C>G (p.Arg1572=) c.4779C>G (p.Arg1593=) c.4749C>G (p.Arg1583=) c.4821C>G (p.Arg1607=) | |
| 3 | g.38551494G>T | CA433134292 | SCN5A | c.4875C>A (p.Arg1625=) c.4878C>A (p.Arg1626=) c.4824C>A (p.Arg1608=) c.4716C>A (p.Arg1572=) c.4779C>A (p.Arg1593=) c.4749C>A (p.Arg1583=) c.4821C>A (p.Arg1607=) | |
| 3 | g.38551495C>A | CA352143040 | SCN5A | c.4874G>T (p.Arg1625Leu) c.4877G>T (p.Arg1626Leu) c.4823G>T (p.Arg1608Leu) c.4715G>T (p.Arg1572Leu) c.4778G>T (p.Arg1593Leu) c.4748G>T (p.Arg1583Leu) c.4820G>T (p.Arg1607Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551495C= | CA1358558220 | SCN5A | c.4874G= (p.Arg1625=) c.4877G= (p.Arg1626=) c.4823G= (p.Arg1608=) c.4715G= (p.Arg1572=) c.4778G= (p.Arg1593=) c.4748G= (p.Arg1583=) c.4820G= (p.Arg1607=) | |
| 3 | g.38551495C>G | CA018703 | SCN5A | c.4874G>C (p.Arg1625Pro) c.4877G>C (p.Arg1626Pro) c.4823G>C (p.Arg1608Pro) c.4715G>C (p.Arg1572Pro) c.4778G>C (p.Arg1593Pro) c.4748G>C (p.Arg1583Pro) c.4820G>C (p.Arg1607Pro) | ClinVar dbSNP |
| 3 | g.38551495C>T | CA018698 | SCN5A | c.4874G>A (p.Arg1625His) c.4877G>A (p.Arg1626His) c.4823G>A (p.Arg1608His) c.4715G>A (p.Arg1572His) c.4778G>A (p.Arg1593His) c.4748G>A (p.Arg1583His) c.4820G>A (p.Arg1607His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551496G>A | CA16611263 | SCN5A | c.4873C>T (p.Arg1625Cys) c.4876C>T (p.Arg1626Cys) c.4822C>T (p.Arg1608Cys) c.4714C>T (p.Arg1572Cys) c.4777C>T (p.Arg1593Cys) c.4747C>T (p.Arg1583Cys) c.4819C>T (p.Arg1607Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38551496G>C | CA352143041 | SCN5A | c.4873C>G (p.Arg1625Gly) c.4876C>G (p.Arg1626Gly) c.4822C>G (p.Arg1608Gly) c.4714C>G (p.Arg1572Gly) c.4777C>G (p.Arg1593Gly) c.4747C>G (p.Arg1583Gly) c.4819C>G (p.Arg1607Gly) | |
| 3 | g.38551496G= | CA1358558229 | SCN5A | c.4873C= (p.Arg1625=) c.4876C= (p.Arg1626=) c.4822C= (p.Arg1608=) c.4714C= (p.Arg1572=) c.4777C= (p.Arg1593=) c.4747C= (p.Arg1583=) c.4819C= (p.Arg1607=) | |
| 3 | g.38551496G>T | CA352143042 | SCN5A | c.4873C>A (p.Arg1625Ser) c.4876C>A (p.Arg1626Ser) c.4822C>A (p.Arg1608Ser) c.4714C>A (p.Arg1572Ser) c.4777C>A (p.Arg1593Ser) c.4747C>A (p.Arg1583Ser) c.4819C>A (p.Arg1607Ser) | |
| 3 | g.38551497G>A | CA433134295 | SCN5A | c.4872C>T (p.Ile1624=) c.4875C>T (p.Ile1625=) c.4821C>T (p.Ile1607=) c.4713C>T (p.Ile1571=) c.4776C>T (p.Ile1592=) c.4746C>T (p.Ile1582=) c.4818C>T (p.Ile1606=) | |
| 3 | g.38551497G>C | CA352143043 | SCN5A | c.4872C>G (p.Ile1624Met) c.4875C>G (p.Ile1625Met) c.4821C>G (p.Ile1607Met) c.4713C>G (p.Ile1571Met) c.4776C>G (p.Ile1592Met) c.4746C>G (p.Ile1582Met) c.4818C>G (p.Ile1606Met) | |
| 3 | g.38551497G>T | CA433134297 | SCN5A | c.4872C>A (p.Ile1624=) c.4875C>A (p.Ile1625=) c.4821C>A (p.Ile1607=) c.4713C>A (p.Ile1571=) c.4776C>A (p.Ile1592=) c.4746C>A (p.Ile1582=) c.4818C>A (p.Ile1606=) | |
| 3 | g.38551498A>C | CA352143044 | SCN5A | c.4871T>G (p.Ile1624Ser) c.4874T>G (p.Ile1625Ser) c.4820T>G (p.Ile1607Ser) c.4712T>G (p.Ile1571Ser) c.4775T>G (p.Ile1592Ser) c.4745T>G (p.Ile1582Ser) c.4817T>G (p.Ile1606Ser) | |
| 3 | g.38551498A>G | CA352143045 | SCN5A | c.4871T>C (p.Ile1624Thr) c.4874T>C (p.Ile1625Thr) c.4820T>C (p.Ile1607Thr) c.4712T>C (p.Ile1571Thr) c.4775T>C (p.Ile1592Thr) c.4745T>C (p.Ile1582Thr) c.4817T>C (p.Ile1606Thr) | |
| 3 | g.38551498A>T | CA352143046 | SCN5A | c.4871T>A (p.Ile1624Asn) c.4874T>A (p.Ile1625Asn) c.4820T>A (p.Ile1607Asn) c.4712T>A (p.Ile1571Asn) c.4775T>A (p.Ile1592Asn) c.4745T>A (p.Ile1582Asn) c.4817T>A (p.Ile1606Asn) | |
| 3 | g.38551499T>A | CA352143047 | SCN5A | c.4870A>T (p.Ile1624Phe) c.4873A>T (p.Ile1625Phe) c.4819A>T (p.Ile1607Phe) c.4711A>T (p.Ile1571Phe) c.4774A>T (p.Ile1592Phe) c.4744A>T (p.Ile1582Phe) c.4816A>T (p.Ile1606Phe) | |
| 3 | g.38551499T>C | CA352143048 | SCN5A | c.4870A>G (p.Ile1624Val) c.4873A>G (p.Ile1625Val) c.4819A>G (p.Ile1607Val) c.4711A>G (p.Ile1571Val) c.4774A>G (p.Ile1592Val) c.4744A>G (p.Ile1582Val) c.4816A>G (p.Ile1606Val) | |
| 3 | g.38551499T>G | CA352143049 | SCN5A | c.4870A>C (p.Ile1624Leu) c.4873A>C (p.Ile1625Leu) c.4819A>C (p.Ile1607Leu) c.4711A>C (p.Ile1571Leu) c.4774A>C (p.Ile1592Leu) c.4744A>C (p.Ile1582Leu) c.4816A>C (p.Ile1606Leu) | |
| 3 | g.38551500G>A | CA433134299 | SCN5A | c.4869C>T (p.Val1623=) c.4872C>T (p.Val1624=) c.4818C>T (p.Val1606=) c.4710C>T (p.Val1570=) c.4773C>T (p.Val1591=) c.4743C>T (p.Val1581=) c.4815C>T (p.Val1605=) | |
| 3 | g.38551500G>C | CA433134300 | SCN5A | c.4869C>G (p.Val1623=) c.4872C>G (p.Val1624=) c.4818C>G (p.Val1606=) c.4710C>G (p.Val1570=) c.4773C>G (p.Val1591=) c.4743C>G (p.Val1581=) c.4815C>G (p.Val1605=) | |
| 3 | g.38551500G>T | CA433134301 | SCN5A | c.4869C>A (p.Val1623=) c.4872C>A (p.Val1624=) c.4818C>A (p.Val1606=) c.4710C>A (p.Val1570=) c.4773C>A (p.Val1591=) c.4743C>A (p.Val1581=) c.4815C>A (p.Val1605=) | gnomAD v4 |
| 3 | g.38551501A>C | CA352143050 | SCN5A | c.4868T>G (p.Val1623Gly) c.4871T>G (p.Val1624Gly) c.4817T>G (p.Val1606Gly) c.4709T>G (p.Val1570Gly) c.4772T>G (p.Val1591Gly) c.4742T>G (p.Val1581Gly) c.4814T>G (p.Val1605Gly) | |
| 3 | g.38551501A>G | CA352143051 | SCN5A | c.4868T>C (p.Val1623Ala) c.4871T>C (p.Val1624Ala) c.4817T>C (p.Val1606Ala) c.4709T>C (p.Val1570Ala) c.4772T>C (p.Val1591Ala) c.4742T>C (p.Val1581Ala) c.4814T>C (p.Val1605Ala) | COSMIC COSMIC COSMIC |
| 3 | g.38551501A>T | CA352143052 | SCN5A | c.4868T>A (p.Val1623Asp) c.4871T>A (p.Val1624Asp) c.4817T>A (p.Val1606Asp) c.4709T>A (p.Val1570Asp) c.4772T>A (p.Val1591Asp) c.4742T>A (p.Val1581Asp) c.4814T>A (p.Val1605Asp) | ClinVar |
| 3 | g.38551502C>A | CA352143053 | SCN5A | c.4867G>T (p.Val1623Phe) c.4870G>T (p.Val1624Phe) c.4816G>T (p.Val1606Phe) c.4708G>T (p.Val1570Phe) c.4771G>T (p.Val1591Phe) c.4741G>T (p.Val1581Phe) c.4813G>T (p.Val1605Phe) | COSMIC COSMIC COSMIC |
| 3 | g.38551502C= | CA1358558238 | SCN5A | c.4867G= (p.Val1623=) c.4870G= (p.Val1624=) c.4816G= (p.Val1606=) c.4708G= (p.Val1570=) c.4771G= (p.Val1591=) c.4741G= (p.Val1581=) c.4813G= (p.Val1605=) | |
| 3 | g.38551502C>G | CA352143054 | SCN5A | c.4867G>C (p.Val1623Leu) c.4870G>C (p.Val1624Leu) c.4816G>C (p.Val1606Leu) c.4708G>C (p.Val1570Leu) c.4771G>C (p.Val1591Leu) c.4741G>C (p.Val1581Leu) c.4813G>C (p.Val1605Leu) | |
| 3 | g.38551502C>T | CA018686 | SCN5A | c.4867G>A (p.Val1623Ile) c.4870G>A (p.Val1624Ile) c.4816G>A (p.Val1606Ile) c.4708G>A (p.Val1570Ile) c.4771G>A (p.Val1591Ile) c.4741G>A (p.Val1581Ile) c.4813G>A (p.Val1605Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551503T>A | CA433134302 | SCN5A | c.4866A>T (p.Arg1622=) c.4869A>T (p.Arg1623=) c.4815A>T (p.Arg1605=) c.4707A>T (p.Arg1569=) c.4770A>T (p.Arg1590=) c.4740A>T (p.Arg1580=) c.4812A>T (p.Arg1604=) | |
| 3 | g.38551503T>C | CA433134304 | SCN5A | c.4866A>G (p.Arg1622=) c.4869A>G (p.Arg1623=) c.4815A>G (p.Arg1605=) c.4707A>G (p.Arg1569=) c.4770A>G (p.Arg1590=) c.4740A>G (p.Arg1580=) c.4812A>G (p.Arg1604=) | |
| 3 | g.38551503T>G | CA433134303 | SCN5A | c.4866A>C (p.Arg1622=) c.4869A>C (p.Arg1623=) c.4815A>C (p.Arg1605=) c.4707A>C (p.Arg1569=) c.4770A>C (p.Arg1590=) c.4740A>C (p.Arg1580=) c.4812A>C (p.Arg1604=) | ClinVar |
| 3 | g.38551504C>A | CA018677 | SCN5A | c.4865G>T (p.Arg1622Leu) c.4868G>T (p.Arg1623Leu) c.4814G>T (p.Arg1605Leu) c.4706G>T (p.Arg1569Leu) c.4769G>T (p.Arg1590Leu) c.4739G>T (p.Arg1580Leu) c.4811G>T (p.Arg1604Leu) | ClinVar dbSNP |
| 3 | g.38551504C= | CA1358558244 | SCN5A | c.4865G= (p.Arg1622=) c.4868G= (p.Arg1623=) c.4814G= (p.Arg1605=) c.4706G= (p.Arg1569=) c.4769G= (p.Arg1590=) c.4739G= (p.Arg1580=) c.4811G= (p.Arg1604=) | |
| 3 | g.38551504C>G | CA352143055 | SCN5A | c.4865G>C (p.Arg1622Pro) c.4868G>C (p.Arg1623Pro) c.4814G>C (p.Arg1605Pro) c.4706G>C (p.Arg1569Pro) c.4769G>C (p.Arg1590Pro) c.4739G>C (p.Arg1580Pro) c.4811G>C (p.Arg1604Pro) | |
| 3 | g.38551504C>T | CA018670 | SCN5A | c.4865G>A (p.Arg1622Gln) c.4868G>A (p.Arg1623Gln) c.4814G>A (p.Arg1605Gln) c.4706G>A (p.Arg1569Gln) c.4769G>A (p.Arg1590Gln) c.4739G>A (p.Arg1580Gln) c.4811G>A (p.Arg1604Gln) | ClinVar dbSNP |
| 3 | g.38551505G>A | CA018662 | SCN5A | c.4864C>T (p.Arg1622Ter) c.4867C>T (p.Arg1623Ter) c.4813C>T (p.Arg1605Ter) c.4705C>T (p.Arg1569Ter) c.4768C>T (p.Arg1590Ter) c.4738C>T (p.Arg1580Ter) c.4810C>T (p.Arg1604Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551505G>C | CA352143056 | SCN5A | c.4864C>G (p.Arg1622Gly) c.4867C>G (p.Arg1623Gly) c.4813C>G (p.Arg1605Gly) c.4705C>G (p.Arg1569Gly) c.4768C>G (p.Arg1590Gly) c.4738C>G (p.Arg1580Gly) c.4810C>G (p.Arg1604Gly) | |
| 3 | g.38551505G= | CA1358558252 | SCN5A | c.4864C= (p.Arg1622=) c.4867C= (p.Arg1623=) c.4813C= (p.Arg1605=) c.4705C= (p.Arg1569=) c.4768C= (p.Arg1590=) c.4738C= (p.Arg1580=) c.4810C= (p.Arg1604=) | |
| 3 | g.38551505G>T | CA063889 | SCN5A | c.4864C>A (p.Arg1622=) c.4867C>A (p.Arg1623=) c.4813C>A (p.Arg1605=) c.4705C>A (p.Arg1569=) c.4768C>A (p.Arg1590=) c.4738C>A (p.Arg1580=) c.4810C>A (p.Arg1604=) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 3 | g.38551506del | CA2586965837 | SCN5A | c.4864del (p.Arg1622GlufsTer8) c.4867del (p.Arg1623GlufsTer8) c.4813del (p.Arg1605GlufsTer8) c.4705del (p.Arg1569GlufsTer8) c.4768del (p.Arg1590GlufsTer8) c.4738del (p.Arg1580GlufsTer8) c.4810del (p.Arg1604GlufsTer8) | |
| 3 | g.38551505_38551506insTCATGTTCATCTACTCCATCTTT | CA916873435 | SCN5A | c.4863_4864insAAAGATGGAGTAGATGAACATGA (p.Arg1622LysfsTer16) c.4866_4867insAAAGATGGAGTAGATGAACATGA (p.Arg1623LysfsTer16) c.4812_4813insAAAGATGGAGTAGATGAACATGA (p.Arg1605LysfsTer16) c.4704_4705insAAAGATGGAGTAGATGAACATGA (p.Arg1569LysfsTer16) c.4767_4768insAAAGATGGAGTAGATGAACATGA (p.Arg1590LysfsTer16) c.4737_4738insAAAGATGGAGTAGATGAACATGA (p.Arg1580LysfsTer16) c.4809_4810insAAAGATGGAGTAGATGAACATGA (p.Arg1604LysfsTer16) | dbSNP |
| 3 | g.38551506G>A | CA433134308 | SCN5A | c.4863C>T (p.Phe1621=) c.4866C>T (p.Phe1622=) c.4812C>T (p.Phe1604=) c.4704C>T (p.Phe1568=) c.4767C>T (p.Phe1589=) c.4737C>T (p.Phe1579=) c.4809C>T (p.Phe1603=) | |
| 3 | g.38551506G>C | CA352143058 | SCN5A | c.4863C>G (p.Phe1621Leu) c.4866C>G (p.Phe1622Leu) c.4812C>G (p.Phe1604Leu) c.4704C>G (p.Phe1568Leu) c.4767C>G (p.Phe1589Leu) c.4737C>G (p.Phe1579Leu) c.4809C>G (p.Phe1603Leu) | gnomAD v4 |
| 3 | g.38551506G>T | CA352143057 | SCN5A | c.4863C>A (p.Phe1621Leu) c.4866C>A (p.Phe1622Leu) c.4812C>A (p.Phe1604Leu) c.4704C>A (p.Phe1568Leu) c.4767C>A (p.Phe1589Leu) c.4737C>A (p.Phe1579Leu) c.4809C>A (p.Phe1603Leu) |