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.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) | |
| 3 | g.38551507A>C | CA352143059 | SCN5A | c.4862T>G (p.Phe1621Cys) c.4865T>G (p.Phe1622Cys) c.4811T>G (p.Phe1604Cys) c.4703T>G (p.Phe1568Cys) c.4766T>G (p.Phe1589Cys) c.4736T>G (p.Phe1579Cys) c.4808T>G (p.Phe1603Cys) | |
| 3 | g.38551507A>G | CA352143060 | SCN5A | c.4862T>C (p.Phe1621Ser) c.4865T>C (p.Phe1622Ser) c.4811T>C (p.Phe1604Ser) c.4703T>C (p.Phe1568Ser) c.4766T>C (p.Phe1589Ser) c.4736T>C (p.Phe1579Ser) c.4808T>C (p.Phe1603Ser) | |
| 3 | g.38551507A>T | CA352143061 | SCN5A | c.4862T>A (p.Phe1621Tyr) c.4865T>A (p.Phe1622Tyr) c.4811T>A (p.Phe1604Tyr) c.4703T>A (p.Phe1568Tyr) c.4766T>A (p.Phe1589Tyr) c.4736T>A (p.Phe1579Tyr) c.4808T>A (p.Phe1603Tyr) | |
| 3 | g.38551508A>C | CA352143062 | SCN5A | c.4861T>G (p.Phe1621Val) c.4864T>G (p.Phe1622Val) c.4810T>G (p.Phe1604Val) c.4702T>G (p.Phe1568Val) c.4765T>G (p.Phe1589Val) c.4735T>G (p.Phe1579Val) c.4807T>G (p.Phe1603Val) | |
| 3 | g.38551508A>G | CA352143063 | SCN5A | c.4861T>C (p.Phe1621Leu) c.4864T>C (p.Phe1622Leu) c.4810T>C (p.Phe1604Leu) c.4702T>C (p.Phe1568Leu) c.4765T>C (p.Phe1589Leu) c.4735T>C (p.Phe1579Leu) c.4807T>C (p.Phe1603Leu) | |
| 3 | g.38551508A>T | CA352143064 | SCN5A | c.4861T>A (p.Phe1621Ile) c.4864T>A (p.Phe1622Ile) c.4810T>A (p.Phe1604Ile) c.4702T>A (p.Phe1568Ile) c.4765T>A (p.Phe1589Ile) c.4735T>A (p.Phe1579Ile) c.4807T>A (p.Phe1603Ile) | |
| 3 | g.38551509G>A | CA433134311 | SCN5A | c.4860C>T (p.Leu1620=) c.4863C>T (p.Leu1621=) c.4809C>T (p.Leu1603=) c.4701C>T (p.Leu1567=) c.4764C>T (p.Leu1588=) c.4734C>T (p.Leu1578=) c.4806C>T (p.Leu1602=) | COSMIC COSMIC COSMIC |
| 3 | g.38551509G>C | CA433134312 | SCN5A | c.4860C>G (p.Leu1620=) c.4863C>G (p.Leu1621=) c.4809C>G (p.Leu1603=) c.4701C>G (p.Leu1567=) c.4764C>G (p.Leu1588=) c.4734C>G (p.Leu1578=) c.4806C>G (p.Leu1602=) | |
| 3 | g.38551509G= | CA1358558261 | SCN5A | c.4860C= (p.Leu1620=) c.4863C= (p.Leu1621=) c.4809C= (p.Leu1603=) c.4701C= (p.Leu1567=) c.4764C= (p.Leu1588=) c.4734C= (p.Leu1578=) c.4806C= (p.Leu1602=) | |
| 3 | g.38551509G>T | CA433134313 | SCN5A | c.4860C>A (p.Leu1620=) c.4863C>A (p.Leu1621=) c.4809C>A (p.Leu1603=) c.4701C>A (p.Leu1567=) c.4764C>A (p.Leu1588=) c.4734C>A (p.Leu1578=) c.4806C>A (p.Leu1602=) | ClinVar dbSNP |
| 3 | g.38551510A>C | CA352143065 | SCN5A | c.4859T>G (p.Leu1620Arg) c.4862T>G (p.Leu1621Arg) c.4808T>G (p.Leu1603Arg) c.4700T>G (p.Leu1567Arg) c.4763T>G (p.Leu1588Arg) c.4733T>G (p.Leu1578Arg) c.4805T>G (p.Leu1602Arg) | |
| 3 | g.38551510A>G | CA352143067 | SCN5A | c.4859T>C (p.Leu1620Pro) c.4862T>C (p.Leu1621Pro) c.4808T>C (p.Leu1603Pro) c.4700T>C (p.Leu1567Pro) c.4763T>C (p.Leu1588Pro) c.4733T>C (p.Leu1578Pro) c.4805T>C (p.Leu1602Pro) | |
| 3 | g.38551510A>T | CA352143066 | SCN5A | c.4859T>A (p.Leu1620His) c.4862T>A (p.Leu1621His) c.4808T>A (p.Leu1603His) c.4700T>A (p.Leu1567His) c.4763T>A (p.Leu1588His) c.4733T>A (p.Leu1578His) c.4805T>A (p.Leu1602His) | |
| 3 | g.38551511G>A | CA352143068 | SCN5A | c.4858C>T (p.Leu1620Phe) c.4861C>T (p.Leu1621Phe) c.4807C>T (p.Leu1603Phe) c.4699C>T (p.Leu1567Phe) c.4762C>T (p.Leu1588Phe) c.4732C>T (p.Leu1578Phe) c.4804C>T (p.Leu1602Phe) | gnomAD v4 |
| 3 | g.38551511G>C | CA352143069 | SCN5A | c.4858C>G (p.Leu1620Val) c.4861C>G (p.Leu1621Val) c.4807C>G (p.Leu1603Val) c.4699C>G (p.Leu1567Val) c.4762C>G (p.Leu1588Val) c.4732C>G (p.Leu1578Val) c.4804C>G (p.Leu1602Val) | |
| 3 | g.38551511G>T | CA352143070 | SCN5A | c.4858C>A (p.Leu1620Ile) c.4861C>A (p.Leu1621Ile) c.4807C>A (p.Leu1603Ile) c.4699C>A (p.Leu1567Ile) c.4762C>A (p.Leu1588Ile) c.4732C>A (p.Leu1578Ile) c.4804C>A (p.Leu1602Ile) | |
| 3 | g.38551512C>A | CA433134314 | SCN5A | c.4857G>T (p.Thr1619=) c.4860G>T (p.Thr1620=) c.4806G>T (p.Thr1602=) c.4698G>T (p.Thr1566=) c.4761G>T (p.Thr1587=) c.4731G>T (p.Thr1577=) c.4803G>T (p.Thr1601=) | |
| 3 | g.38551512C= | CA1358558266 | SCN5A | c.4857G= (p.Thr1619=) c.4860G= (p.Thr1620=) c.4806G= (p.Thr1602=) c.4698G= (p.Thr1566=) c.4761G= (p.Thr1587=) c.4731G= (p.Thr1577=) c.4803G= (p.Thr1601=) |