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.38554344C>A | CA352143710 | SCN5A | c.4745G>T (p.Arg1582Leu) c.4748G>T (p.Arg1583Leu) c.4694G>T (p.Arg1565Leu) c.4586G>T (p.Arg1529Leu) c.4714+31G>T (n.4714+31G>T) n.206G>T c.4619G>T (p.Arg1540Leu) c.4691G>T (p.Arg1564Leu) | |
| 3 | g.38554344C= | CA1358563163 | SCN5A | c.4745G= (p.Arg1582=) c.4748G= (p.Arg1583=) c.4694G= (p.Arg1565=) c.4586G= (p.Arg1529=) c.4714+31G= (n.4714+31G=) n.206G= c.4619G= (p.Arg1540=) c.4691G= (p.Arg1564=) | |
| 3 | g.38554344C>G | CA352143711 | SCN5A | c.4745G>C (p.Arg1582Pro) c.4748G>C (p.Arg1583Pro) c.4694G>C (p.Arg1565Pro) c.4586G>C (p.Arg1529Pro) c.4714+31G>C (n.4714+31G>C) n.206G>C c.4619G>C (p.Arg1540Pro) c.4691G>C (p.Arg1564Pro) | COSMIC COSMIC COSMIC |
| 3 | g.38554344C>T | CA018522 | SCN5A | c.4745G>A (p.Arg1582His) c.4748G>A (p.Arg1583His) c.4694G>A (p.Arg1565His) c.4586G>A (p.Arg1529His) c.4714+31G>A (n.4714+31G>A) n.206G>A c.4619G>A (p.Arg1540His) c.4691G>A (p.Arg1564His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38554345G>A | CA018516 | SCN5A | c.4744C>T (p.Arg1582Cys) c.4747C>T (p.Arg1583Cys) c.4693C>T (p.Arg1565Cys) c.4585C>T (p.Arg1529Cys) c.4714+30C>T (n.4714+30C>T) n.205C>T c.4618C>T (p.Arg1540Cys) c.4690C>T (p.Arg1564Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38554345G>C | CA352143712 | SCN5A | c.4744C>G (p.Arg1582Gly) c.4747C>G (p.Arg1583Gly) c.4693C>G (p.Arg1565Gly) c.4585C>G (p.Arg1529Gly) c.4714+30C>G (n.4714+30C>G) n.205C>G c.4618C>G (p.Arg1540Gly) c.4690C>G (p.Arg1564Gly) | |
| 3 | g.38554345G= | CA1358563169 | SCN5A | c.4744C= (p.Arg1582=) c.4747C= (p.Arg1583=) c.4693C= (p.Arg1565=) c.4585C= (p.Arg1529=) c.4714+30C= (n.4714+30C=) n.205C= c.4618C= (p.Arg1540=) c.4690C= (p.Arg1564=) | |
| 3 | g.38554345G>T | CA72942432 | SCN5A | c.4744C>A (p.Arg1582Ser) c.4747C>A (p.Arg1583Ser) c.4693C>A (p.Arg1565Ser) c.4585C>A (p.Arg1529Ser) c.4714+30C>A (n.4714+30C>A) n.205C>A c.4618C>A (p.Arg1540Ser) c.4690C>A (p.Arg1564Ser) | dbSNP |
| 3 | g.38554346C>A | CA433134550 | SCN5A | c.4743G>T (p.Leu1581=) c.4746G>T (p.Leu1582=) c.4692G>T (p.Leu1564=) c.4584G>T (p.Leu1528=) c.4714+29G>T (n.4714+29G>T) n.204G>T c.4617G>T (p.Leu1539=) c.4689G>T (p.Leu1563=) | |
| 3 | g.38554346C= | CA1358563173 | SCN5A | c.4743G= (p.Leu1581=) c.4746G= (p.Leu1582=) c.4692G= (p.Leu1564=) c.4584G= (p.Leu1528=) c.4714+29G= (n.4714+29G=) n.204G= c.4617G= (p.Leu1539=) c.4689G= (p.Leu1563=) | |
| 3 | g.38554346C>G | CA433134551 | SCN5A | c.4743G>C (p.Leu1581=) c.4746G>C (p.Leu1582=) c.4692G>C (p.Leu1564=) c.4584G>C (p.Leu1528=) c.4714+29G>C (n.4714+29G>C) n.204G>C c.4617G>C (p.Leu1539=) c.4689G>C (p.Leu1563=) | ClinVar dbSNP |
| 3 | g.38554346C>T | CA433134552 | SCN5A | c.4743G>A (p.Leu1581=) c.4746G>A (p.Leu1582=) c.4692G>A (p.Leu1564=) c.4584G>A (p.Leu1528=) c.4714+29G>A (n.4714+29G>A) n.204G>A c.4617G>A (p.Leu1539=) c.4689G>A (p.Leu1563=) | gnomAD v4 |
| 3 | g.38554347A= | CA1358563181 | SCN5A | c.4742T= (p.Leu1581=) c.4745T= (p.Leu1582=) c.4691T= (p.Leu1564=) c.4583T= (p.Leu1528=) c.4714+28T= (n.4714+28T=) n.203T= c.4616T= (p.Leu1539=) c.4688T= (p.Leu1563=) | |
| 3 | g.38554347A>C | CA352143713 | SCN5A | c.4742T>G (p.Leu1581Arg) c.4745T>G (p.Leu1582Arg) c.4691T>G (p.Leu1564Arg) c.4583T>G (p.Leu1528Arg) c.4714+28T>G (n.4714+28T>G) n.203T>G c.4616T>G (p.Leu1539Arg) c.4688T>G (p.Leu1563Arg) | |
| 3 | g.38554347A>G | CA018511 | SCN5A | c.4742T>C (p.Leu1581Pro) c.4745T>C (p.Leu1582Pro) c.4691T>C (p.Leu1564Pro) c.4583T>C (p.Leu1528Pro) c.4714+28T>C (n.4714+28T>C) n.203T>C c.4616T>C (p.Leu1539Pro) c.4688T>C (p.Leu1563Pro) | ClinVar dbSNP |
| 3 | g.38554347A>T | CA352143714 | SCN5A | c.4742T>A (p.Leu1581Gln) c.4745T>A (p.Leu1582Gln) c.4691T>A (p.Leu1564Gln) c.4583T>A (p.Leu1528Gln) c.4714+28T>A (n.4714+28T>A) n.203T>A c.4616T>A (p.Leu1539Gln) c.4688T>A (p.Leu1563Gln) | |
| 3 | g.38554348G>A | CA433134554 | SCN5A | c.4741C>T (p.Leu1581=) c.4744C>T (p.Leu1582=) c.4690C>T (p.Leu1564=) c.4582C>T (p.Leu1528=) c.4714+27C>T (n.4714+27C>T) n.202C>T c.4615C>T (p.Leu1539=) c.4687C>T (p.Leu1563=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38554348G>C | CA352143716 | SCN5A | c.4741C>G (p.Leu1581Val) c.4744C>G (p.Leu1582Val) c.4690C>G (p.Leu1564Val) c.4582C>G (p.Leu1528Val) c.4714+27C>G (n.4714+27C>G) n.202C>G c.4615C>G (p.Leu1539Val) c.4687C>G (p.Leu1563Val) | |
| 3 | g.38554348G= | CA1358563186 | SCN5A | c.4741C= (p.Leu1581=) c.4744C= (p.Leu1582=) c.4690C= (p.Leu1564=) c.4582C= (p.Leu1528=) c.4714+27C= (n.4714+27C=) n.202C= c.4615C= (p.Leu1539=) c.4687C= (p.Leu1563=) | |
| 3 | g.38554348G>T | CA352143715 | SCN5A | c.4741C>A (p.Leu1581Met) c.4744C>A (p.Leu1582Met) c.4690C>A (p.Leu1564Met) c.4582C>A (p.Leu1528Met) c.4714+27C>A (n.4714+27C>A) n.202C>A c.4615C>A (p.Leu1539Met) c.4687C>A (p.Leu1563Met) | |
| 3 | g.38554349G>A | CA433134555 | SCN5A | c.4740C>T (p.Ala1580=) c.4743C>T (p.Ala1581=) c.4689C>T (p.Ala1563=) c.4581C>T (p.Ala1527=) c.4714+26C>T (n.4714+26C>T) n.201C>T c.4614C>T (p.Ala1538=) c.4686C>T (p.Ala1562=) | |
| 3 | g.38554349G>C | CA433134556 | SCN5A | c.4740C>G (p.Ala1580=) c.4743C>G (p.Ala1581=) c.4689C>G (p.Ala1563=) c.4581C>G (p.Ala1527=) c.4714+26C>G (n.4714+26C>G) n.201C>G c.4614C>G (p.Ala1538=) c.4686C>G (p.Ala1562=) | |
| 3 | g.38554349G>T | CA433134558 | SCN5A | c.4740C>A (p.Ala1580=) c.4743C>A (p.Ala1581=) c.4689C>A (p.Ala1563=) c.4581C>A (p.Ala1527=) c.4714+26C>A (n.4714+26C>A) n.201C>A c.4614C>A (p.Ala1538=) c.4686C>A (p.Ala1562=) | |
| 3 | g.38554350G>A | CA352143717 | SCN5A | c.4739C>T (p.Ala1580Val) c.4742C>T (p.Ala1581Val) c.4688C>T (p.Ala1563Val) c.4580C>T (p.Ala1527Val) c.4714+25C>T (n.4714+25C>T) n.200C>T c.4613C>T (p.Ala1538Val) c.4685C>T (p.Ala1562Val) | |
| 3 | g.38554350G>C | CA352143719 | SCN5A | c.4739C>G (p.Ala1580Gly) c.4742C>G (p.Ala1581Gly) c.4688C>G (p.Ala1563Gly) c.4580C>G (p.Ala1527Gly) c.4714+25C>G (n.4714+25C>G) n.200C>G c.4613C>G (p.Ala1538Gly) c.4685C>G (p.Ala1562Gly) | |
| 3 | g.38554350G>T | CA352143718 | SCN5A | c.4739C>A (p.Ala1580Asp) c.4742C>A (p.Ala1581Asp) c.4688C>A (p.Ala1563Asp) c.4580C>A (p.Ala1527Asp) c.4714+25C>A (n.4714+25C>A) n.200C>A c.4613C>A (p.Ala1538Asp) c.4685C>A (p.Ala1562Asp) | COSMIC COSMIC COSMIC |
| 3 | g.38554351C>A | CA352143720 | SCN5A | c.4738G>T (p.Ala1580Ser) c.4741G>T (p.Ala1581Ser) c.4687G>T (p.Ala1563Ser) c.4579G>T (p.Ala1527Ser) c.4714+24G>T (n.4714+24G>T) n.199G>T c.4612G>T (p.Ala1538Ser) c.4684G>T (p.Ala1562Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38554351C= | CA1358563189 | SCN5A | c.4738G= (p.Ala1580=) c.4741G= (p.Ala1581=) c.4687G= (p.Ala1563=) c.4579G= (p.Ala1527=) c.4714+24G= (n.4714+24G=) n.199G= c.4612G= (p.Ala1538=) c.4684G= (p.Ala1562=) | |
| 3 | g.38554351C>G | CA352143721 | SCN5A | c.4738G>C (p.Ala1580Pro) c.4741G>C (p.Ala1581Pro) c.4687G>C (p.Ala1563Pro) c.4579G>C (p.Ala1527Pro) c.4714+24G>C (n.4714+24G>C) n.199G>C c.4612G>C (p.Ala1538Pro) c.4684G>C (p.Ala1562Pro) | |
| 3 | g.38554351C>T | CA72942439 | SCN5A | c.4738G>A (p.Ala1580Thr) c.4741G>A (p.Ala1581Thr) c.4687G>A (p.Ala1563Thr) c.4579G>A (p.Ala1527Thr) c.4714+24G>A (n.4714+24G>A) n.199G>A c.4612G>A (p.Ala1538Thr) c.4684G>A (p.Ala1562Thr) | dbSNP gnomAD v4 |
| 3 | g.38554352A>C | CA433134562 | SCN5A | c.4737T>G (p.Ala1579=) c.4740T>G (p.Ala1580=) c.4686T>G (p.Ala1562=) c.4578T>G (p.Ala1526=) c.4714+23T>G (n.4714+23T>G) n.198T>G c.4611T>G (p.Ala1537=) c.4683T>G (p.Ala1561=) | |
| 3 | g.38554352A>G | CA433134563 | SCN5A | c.4737T>C (p.Ala1579=) c.4740T>C (p.Ala1580=) c.4686T>C (p.Ala1562=) c.4578T>C (p.Ala1526=) c.4714+23T>C (n.4714+23T>C) n.198T>C c.4611T>C (p.Ala1537=) c.4683T>C (p.Ala1561=) | |
| 3 | g.38554352A>T | CA433134564 | SCN5A | c.4737T>A (p.Ala1579=) c.4740T>A (p.Ala1580=) c.4686T>A (p.Ala1562=) c.4578T>A (p.Ala1526=) c.4714+23T>A (n.4714+23T>A) n.198T>A c.4611T>A (p.Ala1537=) c.4683T>A (p.Ala1561=) | |
| 3 | g.38554353G>A | CA352143722 | SCN5A | c.4736C>T (p.Ala1579Val) c.4739C>T (p.Ala1580Val) c.4685C>T (p.Ala1562Val) c.4577C>T (p.Ala1526Val) c.4714+22C>T (n.4714+22C>T) n.197C>T c.4610C>T (p.Ala1537Val) c.4682C>T (p.Ala1561Val) | |
| 3 | g.38554353G>C | CA352143724 | SCN5A | c.4736C>G (p.Ala1579Gly) c.4739C>G (p.Ala1580Gly) c.4685C>G (p.Ala1562Gly) c.4577C>G (p.Ala1526Gly) c.4714+22C>G (n.4714+22C>G) n.197C>G c.4610C>G (p.Ala1537Gly) c.4682C>G (p.Ala1561Gly) | |
| 3 | g.38554353G>T | CA352143723 | SCN5A | c.4736C>A (p.Ala1579Asp) c.4739C>A (p.Ala1580Asp) c.4685C>A (p.Ala1562Asp) c.4577C>A (p.Ala1526Asp) c.4714+22C>A (n.4714+22C>A) n.197C>A c.4610C>A (p.Ala1537Asp) c.4682C>A (p.Ala1561Asp) | |
| 3 | g.38554354C>A | CA352143725 | SCN5A | c.4735G>T (p.Ala1579Ser) c.4738G>T (p.Ala1580Ser) c.4684G>T (p.Ala1562Ser) c.4576G>T (p.Ala1526Ser) c.4714+21G>T (n.4714+21G>T) n.196G>T c.4609G>T (p.Ala1537Ser) c.4681G>T (p.Ala1561Ser) | ClinVar dbSNP |
| 3 | g.38554354C>G | CA352143727 | SCN5A | c.4735G>C (p.Ala1579Pro) c.4738G>C (p.Ala1580Pro) c.4684G>C (p.Ala1562Pro) c.4576G>C (p.Ala1526Pro) c.4714+21G>C (n.4714+21G>C) n.196G>C c.4609G>C (p.Ala1537Pro) c.4681G>C (p.Ala1561Pro) | |
| 3 | g.38554354C>T | CA352143726 | SCN5A | c.4735G>A (p.Ala1579Thr) c.4738G>A (p.Ala1580Thr) c.4684G>A (p.Ala1562Thr) c.4576G>A (p.Ala1526Thr) c.4714+21G>A (n.4714+21G>A) n.196G>A c.4609G>A (p.Ala1537Thr) c.4681G>A (p.Ala1561Thr) | |
| 3 | g.38554355C>A | CA433134568 | SCN5A | c.4734G>T (p.Leu1578=) c.4737G>T (p.Leu1579=) c.4683G>T (p.Leu1561=) c.4575G>T (p.Leu1525=) c.4714+20G>T (n.4714+20G>T) n.195G>T c.4608G>T (p.Leu1536=) c.4680G>T (p.Leu1560=) | COSMIC COSMIC COSMIC |
| 3 | g.38554355C>G | CA433134569 | SCN5A | c.4734G>C (p.Leu1578=) c.4737G>C (p.Leu1579=) c.4683G>C (p.Leu1561=) c.4575G>C (p.Leu1525=) c.4714+20G>C (n.4714+20G>C) n.195G>C c.4608G>C (p.Leu1536=) c.4680G>C (p.Leu1560=) | |
| 3 | g.38554355C>T | CA433134570 | SCN5A | c.4734G>A (p.Leu1578=) c.4737G>A (p.Leu1579=) c.4683G>A (p.Leu1561=) c.4575G>A (p.Leu1525=) c.4714+20G>A (n.4714+20G>A) n.195G>A c.4608G>A (p.Leu1536=) c.4680G>A (p.Leu1560=) | |
| 3 | g.38554356A>C | CA352143728 | SCN5A | c.4733T>G (p.Leu1578Arg) c.4736T>G (p.Leu1579Arg) c.4682T>G (p.Leu1561Arg) c.4574T>G (p.Leu1525Arg) c.4714+19T>G (n.4714+19T>G) n.194T>G c.4607T>G (p.Leu1536Arg) c.4679T>G (p.Leu1560Arg) | |
| 3 | g.38554356A>G | CA352143730 | SCN5A | c.4733T>C (p.Leu1578Pro) c.4736T>C (p.Leu1579Pro) c.4682T>C (p.Leu1561Pro) c.4574T>C (p.Leu1525Pro) c.4714+19T>C (n.4714+19T>C) n.194T>C c.4607T>C (p.Leu1536Pro) c.4679T>C (p.Leu1560Pro) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38554356A>T | CA352143729 | SCN5A | c.4733T>A (p.Leu1578Gln) c.4736T>A (p.Leu1579Gln) c.4682T>A (p.Leu1561Gln) c.4574T>A (p.Leu1525Gln) c.4714+19T>A (n.4714+19T>A) n.194T>A c.4607T>A (p.Leu1536Gln) c.4679T>A (p.Leu1560Gln) | |
| 3 | g.38554357G>A | CA433134571 | SCN5A | c.4732C>T (p.Leu1578=) c.4735C>T (p.Leu1579=) c.4681C>T (p.Leu1561=) c.4573C>T (p.Leu1525=) c.4714+18C>T (n.4714+18C>T) n.193C>T c.4606C>T (p.Leu1536=) c.4678C>T (p.Leu1560=) | |
| 3 | g.38554357G>C | CA352143731 | SCN5A | c.4732C>G (p.Leu1578Val) c.4735C>G (p.Leu1579Val) c.4681C>G (p.Leu1561Val) c.4573C>G (p.Leu1525Val) c.4714+18C>G (n.4714+18C>G) n.193C>G c.4606C>G (p.Leu1536Val) c.4678C>G (p.Leu1560Val) | |
| 3 | g.38554357G>T | CA352143732 | SCN5A | c.4732C>A (p.Leu1578Met) c.4735C>A (p.Leu1579Met) c.4681C>A (p.Leu1561Met) c.4573C>A (p.Leu1525Met) c.4714+18C>A (n.4714+18C>A) n.193C>A c.4606C>A (p.Leu1536Met) c.4678C>A (p.Leu1560Met) | |
| 3 | g.38554358C>A | CA352143733 | SCN5A | c.4731G>T (p.Lys1577Asn) c.4734G>T (p.Lys1578Asn) c.4680G>T (p.Lys1560Asn) c.4572G>T (p.Lys1524Asn) c.4714+17G>T (n.4714+17G>T) n.192G>T c.4605G>T (p.Lys1535Asn) c.4677G>T (p.Lys1559Asn) | |
| 3 | g.38554358C>G | CA352143734 | SCN5A | c.4731G>C (p.Lys1577Asn) c.4734G>C (p.Lys1578Asn) c.4680G>C (p.Lys1560Asn) c.4572G>C (p.Lys1524Asn) c.4714+17G>C (n.4714+17G>C) n.192G>C c.4605G>C (p.Lys1535Asn) c.4677G>C (p.Lys1559Asn) | gnomAD v4 |