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.38551397T>A | CA352142858 | SCN5A | c.4972A>T (p.Asn1658Tyr) c.4975A>T (p.Asn1659Tyr) c.4921A>T (p.Asn1641Tyr) c.4813A>T (p.Asn1605Tyr) c.4876A>T (p.Asn1626Tyr) c.4846A>T (p.Asn1616Tyr) c.4918A>T (p.Asn1640Tyr) | |
| 3 | g.38551397T>C | CA72938241 | SCN5A | c.4972A>G (p.Asn1658Asp) c.4975A>G (p.Asn1659Asp) c.4921A>G (p.Asn1641Asp) c.4813A>G (p.Asn1605Asp) c.4876A>G (p.Asn1626Asp) c.4846A>G (p.Asn1616Asp) c.4918A>G (p.Asn1640Asp) | dbSNP |
| 3 | g.38551397T>G | CA352142859 | SCN5A | c.4972A>C (p.Asn1658His) c.4975A>C (p.Asn1659His) c.4921A>C (p.Asn1641His) c.4813A>C (p.Asn1605His) c.4876A>C (p.Asn1626His) c.4846A>C (p.Asn1616His) c.4918A>C (p.Asn1640His) | |
| 3 | g.38551397T= | CA1358557982 | SCN5A | c.4972A= (p.Asn1658=) c.4975A= (p.Asn1659=) c.4921A= (p.Asn1641=) c.4813A= (p.Asn1605=) c.4876A= (p.Asn1626=) c.4846A= (p.Asn1616=) c.4918A= (p.Asn1640=) | |
| 3 | g.38551398G>A | CA433332211 | SCN5A | c.4971C>T (p.Phe1657=) c.4974C>T (p.Phe1658=) c.4920C>T (p.Phe1640=) c.4812C>T (p.Phe1604=) c.4875C>T (p.Phe1625=) c.4845C>T (p.Phe1615=) c.4917C>T (p.Phe1639=) | ClinVar dbSNP |
| 3 | g.38551398G>C | CA352142860 | SCN5A | c.4971C>G (p.Phe1657Leu) c.4974C>G (p.Phe1658Leu) c.4920C>G (p.Phe1640Leu) c.4812C>G (p.Phe1604Leu) c.4875C>G (p.Phe1625Leu) c.4845C>G (p.Phe1615Leu) c.4917C>G (p.Phe1639Leu) | ClinVar |
| 3 | g.38551398G= | CA1358557984 | SCN5A | c.4971C= (p.Phe1657=) c.4974C= (p.Phe1658=) c.4920C= (p.Phe1640=) c.4812C= (p.Phe1604=) c.4875C= (p.Phe1625=) c.4845C= (p.Phe1615=) c.4917C= (p.Phe1639=) | |
| 3 | g.38551398G>T | CA352142861 | SCN5A | c.4971C>A (p.Phe1657Leu) c.4974C>A (p.Phe1658Leu) c.4920C>A (p.Phe1640Leu) c.4812C>A (p.Phe1604Leu) c.4875C>A (p.Phe1625Leu) c.4845C>A (p.Phe1615Leu) c.4917C>A (p.Phe1639Leu) | |
| 3 | g.38551399A>C | CA352142862 | SCN5A | c.4970T>G (p.Phe1657Cys) c.4973T>G (p.Phe1658Cys) c.4919T>G (p.Phe1640Cys) c.4811T>G (p.Phe1604Cys) c.4874T>G (p.Phe1625Cys) c.4844T>G (p.Phe1615Cys) c.4916T>G (p.Phe1639Cys) | |
| 3 | g.38551399A>G | CA352142863 | SCN5A | c.4970T>C (p.Phe1657Ser) c.4973T>C (p.Phe1658Ser) c.4919T>C (p.Phe1640Ser) c.4811T>C (p.Phe1604Ser) c.4874T>C (p.Phe1625Ser) c.4844T>C (p.Phe1615Ser) c.4916T>C (p.Phe1639Ser) | |
| 3 | g.38551399A>T | CA352142864 | SCN5A | c.4970T>A (p.Phe1657Tyr) c.4973T>A (p.Phe1658Tyr) c.4919T>A (p.Phe1640Tyr) c.4811T>A (p.Phe1604Tyr) c.4874T>A (p.Phe1625Tyr) c.4844T>A (p.Phe1615Tyr) c.4916T>A (p.Phe1639Tyr) | COSMIC |
| 3 | g.38551400A>C | CA352142865 | SCN5A | c.4969T>G (p.Phe1657Val) c.4972T>G (p.Phe1658Val) c.4918T>G (p.Phe1640Val) c.4810T>G (p.Phe1604Val) c.4873T>G (p.Phe1625Val) c.4843T>G (p.Phe1615Val) c.4915T>G (p.Phe1639Val) | |
| 3 | g.38551400A>G | CA352142866 | SCN5A | c.4969T>C (p.Phe1657Leu) c.4972T>C (p.Phe1658Leu) c.4918T>C (p.Phe1640Leu) c.4810T>C (p.Phe1604Leu) c.4873T>C (p.Phe1625Leu) c.4843T>C (p.Phe1615Leu) c.4915T>C (p.Phe1639Leu) | |
| 3 | g.38551400A>T | CA352142867 | SCN5A | c.4969T>A (p.Phe1657Ile) c.4972T>A (p.Phe1658Ile) c.4918T>A (p.Phe1640Ile) c.4810T>A (p.Phe1604Ile) c.4873T>A (p.Phe1625Ile) c.4843T>A (p.Phe1615Ile) c.4915T>A (p.Phe1639Ile) | |
| 3 | g.38551401G>A | CA433332223 | SCN5A | c.4968C>T (p.Leu1656=) c.4971C>T (p.Leu1657=) c.4917C>T (p.Leu1639=) c.4809C>T (p.Leu1603=) c.4872C>T (p.Leu1624=) c.4842C>T (p.Leu1614=) c.4914C>T (p.Leu1638=) | ClinVar dbSNP |
| 3 | g.38551401G>C | CA433332224 | SCN5A | c.4968C>G (p.Leu1656=) c.4971C>G (p.Leu1657=) c.4917C>G (p.Leu1639=) c.4809C>G (p.Leu1603=) c.4872C>G (p.Leu1624=) c.4842C>G (p.Leu1614=) c.4914C>G (p.Leu1638=) | |
| 3 | g.38551401G= | CA1358557986 | SCN5A | c.4968C= (p.Leu1656=) c.4971C= (p.Leu1657=) c.4917C= (p.Leu1639=) c.4809C= (p.Leu1603=) c.4872C= (p.Leu1624=) c.4842C= (p.Leu1614=) c.4914C= (p.Leu1638=) | |
| 3 | g.38551401G>T | CA064033 | SCN5A | c.4968C>A (p.Leu1656=) c.4971C>A (p.Leu1657=) c.4917C>A (p.Leu1639=) c.4809C>A (p.Leu1603=) c.4872C>A (p.Leu1624=) c.4842C>A (p.Leu1614=) c.4914C>A (p.Leu1638=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38551402A>C | CA352142870 | SCN5A | c.4967T>G (p.Leu1656Arg) c.4970T>G (p.Leu1657Arg) c.4916T>G (p.Leu1639Arg) c.4808T>G (p.Leu1603Arg) c.4871T>G (p.Leu1624Arg) c.4841T>G (p.Leu1614Arg) c.4913T>G (p.Leu1638Arg) | |
| 3 | g.38551402A>G | CA352142868 | SCN5A | c.4967T>C (p.Leu1656Pro) c.4970T>C (p.Leu1657Pro) c.4916T>C (p.Leu1639Pro) c.4808T>C (p.Leu1603Pro) c.4871T>C (p.Leu1624Pro) c.4841T>C (p.Leu1614Pro) c.4913T>C (p.Leu1638Pro) | |
| 3 | g.38551402A>T | CA352142869 | SCN5A | c.4967T>A (p.Leu1656His) c.4970T>A (p.Leu1657His) c.4916T>A (p.Leu1639His) c.4808T>A (p.Leu1603His) c.4871T>A (p.Leu1624His) c.4841T>A (p.Leu1614His) c.4913T>A (p.Leu1638His) | |
| 3 | g.38551403G>A | CA352142871 | SCN5A | c.4966C>T (p.Leu1656Phe) c.4969C>T (p.Leu1657Phe) c.4915C>T (p.Leu1639Phe) c.4807C>T (p.Leu1603Phe) c.4870C>T (p.Leu1624Phe) c.4840C>T (p.Leu1614Phe) c.4912C>T (p.Leu1638Phe) | |
| 3 | g.38551403G>C | CA352142872 | SCN5A | c.4966C>G (p.Leu1656Val) c.4969C>G (p.Leu1657Val) c.4915C>G (p.Leu1639Val) c.4807C>G (p.Leu1603Val) c.4870C>G (p.Leu1624Val) c.4840C>G (p.Leu1614Val) c.4912C>G (p.Leu1638Val) | |
| 3 | g.38551403G>T | CA352142873 | SCN5A | c.4966C>A (p.Leu1656Ile) c.4969C>A (p.Leu1657Ile) c.4915C>A (p.Leu1639Ile) c.4807C>A (p.Leu1603Ile) c.4870C>A (p.Leu1624Ile) c.4840C>A (p.Leu1614Ile) c.4912C>A (p.Leu1638Ile) | COSMIC COSMIC COSMIC |
| 3 | g.38551404G>A | CA433332234 | SCN5A | c.4965C>T (p.Ala1655=) c.4968C>T (p.Ala1656=) c.4914C>T (p.Ala1638=) c.4806C>T (p.Ala1602=) c.4869C>T (p.Ala1623=) c.4839C>T (p.Ala1613=) c.4911C>T (p.Ala1637=) | ClinVar gnomAD v4 |
| 3 | g.38551404G>C | CA433332236 | SCN5A | c.4965C>G (p.Ala1655=) c.4968C>G (p.Ala1656=) c.4914C>G (p.Ala1638=) c.4806C>G (p.Ala1602=) c.4869C>G (p.Ala1623=) c.4839C>G (p.Ala1613=) c.4911C>G (p.Ala1637=) | ClinVar |
| 3 | g.38551404G= | CA1358557990 | SCN5A | c.4965C= (p.Ala1655=) c.4968C= (p.Ala1656=) c.4914C= (p.Ala1638=) c.4806C= (p.Ala1602=) c.4869C= (p.Ala1623=) c.4839C= (p.Ala1613=) c.4911C= (p.Ala1637=) | |
| 3 | g.38551404G>T | CA064018 | SCN5A | c.4965C>A (p.Ala1655=) c.4968C>A (p.Ala1656=) c.4914C>A (p.Ala1638=) c.4806C>A (p.Ala1602=) c.4869C>A (p.Ala1623=) c.4839C>A (p.Ala1613=) c.4911C>A (p.Ala1637=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551405G>A | CA352142876 | SCN5A | c.4964C>T (p.Ala1655Val) c.4967C>T (p.Ala1656Val) c.4913C>T (p.Ala1638Val) c.4805C>T (p.Ala1602Val) c.4868C>T (p.Ala1623Val) c.4838C>T (p.Ala1613Val) c.4910C>T (p.Ala1637Val) | gnomAD v3 gnomAD v4 |
| 3 | g.38551405G>C | CA352142875 | SCN5A | c.4964C>G (p.Ala1655Gly) c.4967C>G (p.Ala1656Gly) c.4913C>G (p.Ala1638Gly) c.4805C>G (p.Ala1602Gly) c.4868C>G (p.Ala1623Gly) c.4838C>G (p.Ala1613Gly) c.4910C>G (p.Ala1637Gly) | |
| 3 | g.38551405G>T | CA352142874 | SCN5A | c.4964C>A (p.Ala1655Asp) c.4967C>A (p.Ala1656Asp) c.4913C>A (p.Ala1638Asp) c.4805C>A (p.Ala1602Asp) c.4868C>A (p.Ala1623Asp) c.4838C>A (p.Ala1613Asp) c.4910C>A (p.Ala1637Asp) | |
| 3 | g.38551406C>A | CA352142877 | SCN5A | c.4963G>T (p.Ala1655Ser) c.4966G>T (p.Ala1656Ser) c.4912G>T (p.Ala1638Ser) c.4804G>T (p.Ala1602Ser) c.4867G>T (p.Ala1623Ser) c.4837G>T (p.Ala1613Ser) c.4909G>T (p.Ala1637Ser) | |
| 3 | g.38551406C>G | CA352142878 | SCN5A | c.4963G>C (p.Ala1655Pro) c.4966G>C (p.Ala1656Pro) c.4912G>C (p.Ala1638Pro) c.4804G>C (p.Ala1602Pro) c.4867G>C (p.Ala1623Pro) c.4837G>C (p.Ala1613Pro) c.4909G>C (p.Ala1637Pro) | |
| 3 | g.38551406C>T | CA352142879 | SCN5A | c.4963G>A (p.Ala1655Thr) c.4966G>A (p.Ala1656Thr) c.4912G>A (p.Ala1638Thr) c.4804G>A (p.Ala1602Thr) c.4867G>A (p.Ala1623Thr) c.4837G>A (p.Ala1613Thr) c.4909G>A (p.Ala1637Thr) | |
| 3 | g.38551407A>C | CA433332252 | SCN5A | c.4962T>G (p.Pro1654=) c.4965T>G (p.Pro1655=) c.4911T>G (p.Pro1637=) c.4803T>G (p.Pro1601=) c.4866T>G (p.Pro1622=) c.4836T>G (p.Pro1612=) c.4908T>G (p.Pro1636=) | |
| 3 | g.38551407A>G | CA433332250 | SCN5A | c.4962T>C (p.Pro1654=) c.4965T>C (p.Pro1655=) c.4911T>C (p.Pro1637=) c.4803T>C (p.Pro1601=) c.4866T>C (p.Pro1622=) c.4836T>C (p.Pro1612=) c.4908T>C (p.Pro1636=) | ClinVar dbSNP |
| 3 | g.38551407A>T | CA433332248 | SCN5A | c.4962T>A (p.Pro1654=) c.4965T>A (p.Pro1655=) c.4911T>A (p.Pro1637=) c.4803T>A (p.Pro1601=) c.4866T>A (p.Pro1622=) c.4836T>A (p.Pro1612=) c.4908T>A (p.Pro1636=) | |
| 3 | g.38551408G>A | CA352142880 | SCN5A | c.4961C>T (p.Pro1654Leu) c.4964C>T (p.Pro1655Leu) c.4910C>T (p.Pro1637Leu) c.4802C>T (p.Pro1601Leu) c.4865C>T (p.Pro1622Leu) c.4835C>T (p.Pro1612Leu) c.4907C>T (p.Pro1636Leu) | |
| 3 | g.38551408G>C | CA352142881 | SCN5A | c.4961C>G (p.Pro1654Arg) c.4964C>G (p.Pro1655Arg) c.4910C>G (p.Pro1637Arg) c.4802C>G (p.Pro1601Arg) c.4865C>G (p.Pro1622Arg) c.4835C>G (p.Pro1612Arg) c.4907C>G (p.Pro1636Arg) | |
| 3 | g.38551408G>T | CA352142882 | SCN5A | c.4961C>A (p.Pro1654His) c.4964C>A (p.Pro1655His) c.4910C>A (p.Pro1637His) c.4802C>A (p.Pro1601His) c.4865C>A (p.Pro1622His) c.4835C>A (p.Pro1612His) c.4907C>A (p.Pro1636His) | |
| 3 | g.38551409G>A | CA352142883 | SCN5A | c.4960C>T (p.Pro1654Ser) c.4963C>T (p.Pro1655Ser) c.4909C>T (p.Pro1637Ser) c.4801C>T (p.Pro1601Ser) c.4864C>T (p.Pro1622Ser) c.4834C>T (p.Pro1612Ser) c.4906C>T (p.Pro1636Ser) | |
| 3 | g.38551409G>C | CA352142885 | SCN5A | c.4960C>G (p.Pro1654Ala) c.4963C>G (p.Pro1655Ala) c.4909C>G (p.Pro1637Ala) c.4801C>G (p.Pro1601Ala) c.4864C>G (p.Pro1622Ala) c.4834C>G (p.Pro1612Ala) c.4906C>G (p.Pro1636Ala) | |
| 3 | g.38551409G>T | CA352142884 | SCN5A | c.4960C>A (p.Pro1654Thr) c.4963C>A (p.Pro1655Thr) c.4909C>A (p.Pro1637Thr) c.4801C>A (p.Pro1601Thr) c.4864C>A (p.Pro1622Thr) c.4834C>A (p.Pro1612Thr) c.4906C>A (p.Pro1636Thr) | |
| 3 | g.38551410C>A | CA433332260 | SCN5A | c.4959G>T (p.Leu1653=) c.4962G>T (p.Leu1654=) c.4908G>T (p.Leu1636=) c.4800G>T (p.Leu1600=) c.4863G>T (p.Leu1621=) c.4833G>T (p.Leu1611=) c.4905G>T (p.Leu1635=) | |
| 3 | g.38551410C>G | CA433332258 | SCN5A | c.4959G>C (p.Leu1653=) c.4962G>C (p.Leu1654=) c.4908G>C (p.Leu1636=) c.4800G>C (p.Leu1600=) c.4863G>C (p.Leu1621=) c.4833G>C (p.Leu1611=) c.4905G>C (p.Leu1635=) | |
| 3 | g.38551410C>T | CA433332257 | SCN5A | c.4959G>A (p.Leu1653=) c.4962G>A (p.Leu1654=) c.4908G>A (p.Leu1636=) c.4800G>A (p.Leu1600=) c.4863G>A (p.Leu1621=) c.4833G>A (p.Leu1611=) c.4905G>A (p.Leu1635=) | |
| 3 | g.38551411A>C | CA352142886 | SCN5A | c.4958T>G (p.Leu1653Arg) c.4961T>G (p.Leu1654Arg) c.4907T>G (p.Leu1636Arg) c.4799T>G (p.Leu1600Arg) c.4862T>G (p.Leu1621Arg) c.4832T>G (p.Leu1611Arg) c.4904T>G (p.Leu1635Arg) | |
| 3 | g.38551411A>G | CA352142887 | SCN5A | c.4958T>C (p.Leu1653Pro) c.4961T>C (p.Leu1654Pro) c.4907T>C (p.Leu1636Pro) c.4799T>C (p.Leu1600Pro) c.4862T>C (p.Leu1621Pro) c.4832T>C (p.Leu1611Pro) c.4904T>C (p.Leu1635Pro) | |
| 3 | g.38551411A>T | CA352142888 | SCN5A | c.4958T>A (p.Leu1653Gln) c.4961T>A (p.Leu1654Gln) c.4907T>A (p.Leu1636Gln) c.4799T>A (p.Leu1600Gln) c.4862T>A (p.Leu1621Gln) c.4832T>A (p.Leu1611Gln) c.4904T>A (p.Leu1635Gln) | |
| 3 | g.38551412G>A | CA433332265 | SCN5A | c.4957C>T (p.Leu1653=) c.4960C>T (p.Leu1654=) c.4906C>T (p.Leu1636=) c.4798C>T (p.Leu1600=) c.4861C>T (p.Leu1621=) c.4831C>T (p.Leu1611=) c.4903C>T (p.Leu1635=) | gnomAD v4 |