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.38551460G>A | CA063937 | SCN5A | c.4909C>T (p.Arg1637Ter) c.4912C>T (p.Arg1638Ter) c.4858C>T (p.Arg1620Ter) c.4750C>T (p.Arg1584Ter) c.4813C>T (p.Arg1605Ter) c.4783C>T (p.Arg1595Ter) c.4855C>T (p.Arg1619Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38551460G>C | CA352142978 | SCN5A | c.4909C>G (p.Arg1637Gly) c.4912C>G (p.Arg1638Gly) c.4858C>G (p.Arg1620Gly) c.4750C>G (p.Arg1584Gly) c.4813C>G (p.Arg1605Gly) c.4783C>G (p.Arg1595Gly) c.4855C>G (p.Arg1619Gly) | |
| 3 | g.38551460G= | CA1358558129 | SCN5A | c.4909C= (p.Arg1637=) c.4912C= (p.Arg1638=) c.4858C= (p.Arg1620=) c.4750C= (p.Arg1584=) c.4813C= (p.Arg1605=) c.4783C= (p.Arg1595=) c.4855C= (p.Arg1619=) | |
| 3 | g.38551460G>T | CA433134251 | SCN5A | c.4909C>A (p.Arg1637=) c.4912C>A (p.Arg1638=) c.4858C>A (p.Arg1620=) c.4750C>A (p.Arg1584=) c.4813C>A (p.Arg1605=) c.4783C>A (p.Arg1595=) c.4855C>A (p.Arg1619=) | COSMIC COSMIC COSMIC |
| 3 | g.38551461G>A | CA018741 | SCN5A | c.4908C>T (p.Ile1636=) c.4911C>T (p.Ile1637=) c.4857C>T (p.Ile1619=) c.4749C>T (p.Ile1583=) c.4812C>T (p.Ile1604=) c.4782C>T (p.Ile1594=) c.4854C>T (p.Ile1618=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551461G>C | CA352142979 | SCN5A | c.4908C>G (p.Ile1636Met) c.4911C>G (p.Ile1637Met) c.4857C>G (p.Ile1619Met) c.4749C>G (p.Ile1583Met) c.4812C>G (p.Ile1604Met) c.4782C>G (p.Ile1594Met) c.4854C>G (p.Ile1618Met) | |
| 3 | g.38551461G= | CA1358558133 | SCN5A | c.4908C= (p.Ile1636=) c.4911C= (p.Ile1637=) c.4857C= (p.Ile1619=) c.4749C= (p.Ile1583=) c.4812C= (p.Ile1604=) c.4782C= (p.Ile1594=) c.4854C= (p.Ile1618=) | |
| 3 | g.38551461G>T | CA433134252 | SCN5A | c.4908C>A (p.Ile1636=) c.4911C>A (p.Ile1637=) c.4857C>A (p.Ile1619=) c.4749C>A (p.Ile1583=) c.4812C>A (p.Ile1604=) c.4782C>A (p.Ile1594=) c.4854C>A (p.Ile1618=) | |
| 3 | g.38551462A>C | CA352142980 | SCN5A | c.4907T>G (p.Ile1636Ser) c.4910T>G (p.Ile1637Ser) c.4856T>G (p.Ile1619Ser) c.4748T>G (p.Ile1583Ser) c.4811T>G (p.Ile1604Ser) c.4781T>G (p.Ile1594Ser) c.4853T>G (p.Ile1618Ser) | |
| 3 | g.38551462A>G | CA352142981 | SCN5A | c.4907T>C (p.Ile1636Thr) c.4910T>C (p.Ile1637Thr) c.4856T>C (p.Ile1619Thr) c.4748T>C (p.Ile1583Thr) c.4811T>C (p.Ile1604Thr) c.4781T>C (p.Ile1594Thr) c.4853T>C (p.Ile1618Thr) | gnomAD v4 |
| 3 | g.38551462A>T | CA352142982 | SCN5A | c.4907T>A (p.Ile1636Asn) c.4910T>A (p.Ile1637Asn) c.4856T>A (p.Ile1619Asn) c.4748T>A (p.Ile1583Asn) c.4811T>A (p.Ile1604Asn) c.4781T>A (p.Ile1594Asn) c.4853T>A (p.Ile1618Asn) | |
| 3 | g.38551463T>A | CA352142985 | SCN5A | c.4906A>T (p.Ile1636Phe) c.4909A>T (p.Ile1637Phe) c.4855A>T (p.Ile1619Phe) c.4747A>T (p.Ile1583Phe) c.4810A>T (p.Ile1604Phe) c.4780A>T (p.Ile1594Phe) c.4852A>T (p.Ile1618Phe) | |
| 3 | g.38551463T>C | CA352142983 | SCN5A | c.4906A>G (p.Ile1636Val) c.4909A>G (p.Ile1637Val) c.4855A>G (p.Ile1619Val) c.4747A>G (p.Ile1583Val) c.4810A>G (p.Ile1604Val) c.4780A>G (p.Ile1594Val) c.4852A>G (p.Ile1618Val) | |
| 3 | g.38551463T>G | CA352142984 | SCN5A | c.4906A>C (p.Ile1636Leu) c.4909A>C (p.Ile1637Leu) c.4855A>C (p.Ile1619Leu) c.4747A>C (p.Ile1583Leu) c.4810A>C (p.Ile1604Leu) c.4780A>C (p.Ile1594Leu) c.4852A>C (p.Ile1618Leu) | |
| 3 | g.38551464C>A | CA433134253 | SCN5A | c.4905G>T (p.Leu1635=) c.4908G>T (p.Leu1636=) c.4854G>T (p.Leu1618=) c.4746G>T (p.Leu1582=) c.4809G>T (p.Leu1603=) c.4779G>T (p.Leu1593=) c.4851G>T (p.Leu1617=) | |
| 3 | g.38551464C>G | CA433134254 | SCN5A | c.4905G>C (p.Leu1635=) c.4908G>C (p.Leu1636=) c.4854G>C (p.Leu1618=) c.4746G>C (p.Leu1582=) c.4809G>C (p.Leu1603=) c.4779G>C (p.Leu1593=) c.4851G>C (p.Leu1617=) | |
| 3 | g.38551464C>T | CA433134255 | SCN5A | c.4905G>A (p.Leu1635=) c.4908G>A (p.Leu1636=) c.4854G>A (p.Leu1618=) c.4746G>A (p.Leu1582=) c.4809G>A (p.Leu1603=) c.4779G>A (p.Leu1593=) c.4851G>A (p.Leu1617=) | COSMIC COSMIC COSMIC |
| 3 | g.38551465A>C | CA352142986 | SCN5A | c.4904T>G (p.Leu1635Arg) c.4907T>G (p.Leu1636Arg) c.4853T>G (p.Leu1618Arg) c.4745T>G (p.Leu1582Arg) c.4808T>G (p.Leu1603Arg) c.4778T>G (p.Leu1593Arg) c.4850T>G (p.Leu1617Arg) | |
| 3 | g.38551465A>G | CA352142987 | SCN5A | c.4904T>C (p.Leu1635Pro) c.4907T>C (p.Leu1636Pro) c.4853T>C (p.Leu1618Pro) c.4745T>C (p.Leu1582Pro) c.4808T>C (p.Leu1603Pro) c.4778T>C (p.Leu1593Pro) c.4850T>C (p.Leu1617Pro) | |
| 3 | g.38551465A>T | CA352142988 | SCN5A | c.4904T>A (p.Leu1635Gln) c.4907T>A (p.Leu1636Gln) c.4853T>A (p.Leu1618Gln) c.4745T>A (p.Leu1582Gln) c.4808T>A (p.Leu1603Gln) c.4778T>A (p.Leu1593Gln) c.4850T>A (p.Leu1617Gln) | |
| 3 | g.38551466G>A | CA433134256 | SCN5A | c.4903C>T (p.Leu1635=) c.4906C>T (p.Leu1636=) c.4852C>T (p.Leu1618=) c.4744C>T (p.Leu1582=) c.4807C>T (p.Leu1603=) c.4777C>T (p.Leu1593=) c.4849C>T (p.Leu1617=) | |
| 3 | g.38551466G>C | CA352142989 | SCN5A | c.4903C>G (p.Leu1635Val) c.4906C>G (p.Leu1636Val) c.4852C>G (p.Leu1618Val) c.4744C>G (p.Leu1582Val) c.4807C>G (p.Leu1603Val) c.4777C>G (p.Leu1593Val) c.4849C>G (p.Leu1617Val) | |
| 3 | g.38551466G>T | CA352142990 | SCN5A | c.4903C>A (p.Leu1635Met) c.4906C>A (p.Leu1636Met) c.4852C>A (p.Leu1618Met) c.4744C>A (p.Leu1582Met) c.4807C>A (p.Leu1603Met) c.4777C>A (p.Leu1593Met) c.4849C>A (p.Leu1617Met) | ClinVar dbSNP |
| 3 | g.38551467T>A | CA352142991 | SCN5A | c.4902A>T (p.Arg1634Ser) c.4905A>T (p.Arg1635Ser) c.4851A>T (p.Arg1617Ser) c.4743A>T (p.Arg1581Ser) c.4806A>T (p.Arg1602Ser) c.4776A>T (p.Arg1592Ser) c.4848A>T (p.Arg1616Ser) | |
| 3 | g.38551467T>C | CA433134257 | SCN5A | c.4902A>G (p.Arg1634=) c.4905A>G (p.Arg1635=) c.4851A>G (p.Arg1617=) c.4743A>G (p.Arg1581=) c.4806A>G (p.Arg1602=) c.4776A>G (p.Arg1592=) c.4848A>G (p.Arg1616=) | ClinVar |
| 3 | g.38551467T>G | CA352142992 | SCN5A | c.4902A>C (p.Arg1634Ser) c.4905A>C (p.Arg1635Ser) c.4851A>C (p.Arg1617Ser) c.4743A>C (p.Arg1581Ser) c.4806A>C (p.Arg1602Ser) c.4776A>C (p.Arg1592Ser) c.4848A>C (p.Arg1616Ser) | |
| 3 | g.38551468C>A | CA352142993 | SCN5A | c.4901G>T (p.Arg1634Ile) c.4904G>T (p.Arg1635Ile) c.4850G>T (p.Arg1617Ile) c.4742G>T (p.Arg1581Ile) c.4805G>T (p.Arg1602Ile) c.4775G>T (p.Arg1592Ile) c.4847G>T (p.Arg1616Ile) | |
| 3 | g.38551468C>G | CA352142994 | SCN5A | c.4901G>C (p.Arg1634Thr) c.4904G>C (p.Arg1635Thr) c.4850G>C (p.Arg1617Thr) c.4742G>C (p.Arg1581Thr) c.4805G>C (p.Arg1602Thr) c.4775G>C (p.Arg1592Thr) c.4847G>C (p.Arg1616Thr) | |
| 3 | g.38551468C>T | CA352142995 | SCN5A | c.4901G>A (p.Arg1634Lys) c.4904G>A (p.Arg1635Lys) c.4850G>A (p.Arg1617Lys) c.4742G>A (p.Arg1581Lys) c.4805G>A (p.Arg1602Lys) c.4775G>A (p.Arg1592Lys) c.4847G>A (p.Arg1616Lys) | COSMIC COSMIC COSMIC |
| 3 | g.38551469T>A | CA352142996 | SCN5A | c.4900A>T (p.Arg1634Ter) c.4903A>T (p.Arg1635Ter) c.4849A>T (p.Arg1617Ter) c.4741A>T (p.Arg1581Ter) c.4804A>T (p.Arg1602Ter) c.4774A>T (p.Arg1592Ter) c.4846A>T (p.Arg1616Ter) | |
| 3 | g.38551469T>C | CA352142997 | SCN5A | c.4900A>G (p.Arg1634Gly) c.4903A>G (p.Arg1635Gly) c.4849A>G (p.Arg1617Gly) c.4741A>G (p.Arg1581Gly) c.4804A>G (p.Arg1602Gly) c.4774A>G (p.Arg1592Gly) c.4846A>G (p.Arg1616Gly) | COSMIC COSMIC COSMIC |
| 3 | g.38551469T>G | CA433134258 | SCN5A | c.4900A>C (p.Arg1634=) c.4903A>C (p.Arg1635=) c.4849A>C (p.Arg1617=) c.4741A>C (p.Arg1581=) c.4804A>C (p.Arg1602=) c.4774A>C (p.Arg1592=) c.4846A>C (p.Arg1616=) | |
| 3 | g.38551470G>A | CA433134259 | SCN5A | c.4899C>T (p.Leu1633=) c.4902C>T (p.Leu1634=) c.4848C>T (p.Leu1616=) c.4740C>T (p.Leu1580=) c.4803C>T (p.Leu1601=) c.4773C>T (p.Leu1591=) c.4845C>T (p.Leu1615=) | gnomAD v4 |
| 3 | g.38551470G>C | CA433134260 | SCN5A | c.4899C>G (p.Leu1633=) c.4902C>G (p.Leu1634=) c.4848C>G (p.Leu1616=) c.4740C>G (p.Leu1580=) c.4803C>G (p.Leu1601=) c.4773C>G (p.Leu1591=) c.4845C>G (p.Leu1615=) | |
| 3 | g.38551470G>T | CA433134261 | SCN5A | c.4899C>A (p.Leu1633=) c.4902C>A (p.Leu1634=) c.4848C>A (p.Leu1616=) c.4740C>A (p.Leu1580=) c.4803C>A (p.Leu1601=) c.4773C>A (p.Leu1591=) c.4845C>A (p.Leu1615=) | |
| 3 | g.38551471A>C | CA352143000 | SCN5A | c.4898T>G (p.Leu1633Arg) c.4901T>G (p.Leu1634Arg) c.4847T>G (p.Leu1616Arg) c.4739T>G (p.Leu1580Arg) c.4802T>G (p.Leu1601Arg) c.4772T>G (p.Leu1591Arg) c.4844T>G (p.Leu1615Arg) | |
| 3 | g.38551471A>G | CA352142999 | SCN5A | c.4898T>C (p.Leu1633Pro) c.4901T>C (p.Leu1634Pro) c.4847T>C (p.Leu1616Pro) c.4739T>C (p.Leu1580Pro) c.4802T>C (p.Leu1601Pro) c.4772T>C (p.Leu1591Pro) c.4844T>C (p.Leu1615Pro) | |
| 3 | g.38551471A>T | CA352142998 | SCN5A | c.4898T>A (p.Leu1633His) c.4901T>A (p.Leu1634His) c.4847T>A (p.Leu1616His) c.4739T>A (p.Leu1580His) c.4802T>A (p.Leu1601His) c.4772T>A (p.Leu1591His) c.4844T>A (p.Leu1615His) | |
| 3 | g.38551472G>A | CA352143001 | SCN5A | c.4897C>T (p.Leu1633Phe) c.4900C>T (p.Leu1634Phe) c.4846C>T (p.Leu1616Phe) c.4738C>T (p.Leu1580Phe) c.4801C>T (p.Leu1601Phe) c.4771C>T (p.Leu1591Phe) c.4843C>T (p.Leu1615Phe) | |
| 3 | g.38551472G>C | CA352143003 | SCN5A | c.4897C>G (p.Leu1633Val) c.4900C>G (p.Leu1634Val) c.4846C>G (p.Leu1616Val) c.4738C>G (p.Leu1580Val) c.4801C>G (p.Leu1601Val) c.4771C>G (p.Leu1591Val) c.4843C>G (p.Leu1615Val) | |
| 3 | g.38551472G>T | CA352143002 | SCN5A | c.4897C>A (p.Leu1633Ile) c.4900C>A (p.Leu1634Ile) c.4846C>A (p.Leu1616Ile) c.4738C>A (p.Leu1580Ile) c.4801C>A (p.Leu1601Ile) c.4771C>A (p.Leu1591Ile) c.4843C>A (p.Leu1615Ile) | |
| 3 | g.38551473G>A | CA72938328 | SCN5A | c.4896C>T (p.Ile1632=) c.4899C>T (p.Ile1633=) c.4845C>T (p.Ile1615=) c.4737C>T (p.Ile1579=) c.4800C>T (p.Ile1600=) c.4770C>T (p.Ile1590=) c.4842C>T (p.Ile1614=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551473G>C | CA352143004 | SCN5A | c.4896C>G (p.Ile1632Met) c.4899C>G (p.Ile1633Met) c.4845C>G (p.Ile1615Met) c.4737C>G (p.Ile1579Met) c.4800C>G (p.Ile1600Met) c.4770C>G (p.Ile1590Met) c.4842C>G (p.Ile1614Met) | |
| 3 | g.38551473G= | CA1358558144 | SCN5A | c.4896C= (p.Ile1632=) c.4899C= (p.Ile1633=) c.4845C= (p.Ile1615=) c.4737C= (p.Ile1579=) c.4800C= (p.Ile1600=) c.4770C= (p.Ile1590=) c.4842C= (p.Ile1614=) | |
| 3 | g.38551473G>T | CA433134262 | SCN5A | c.4896C>A (p.Ile1632=) c.4899C>A (p.Ile1633=) c.4845C>A (p.Ile1615=) c.4737C>A (p.Ile1579=) c.4800C>A (p.Ile1600=) c.4770C>A (p.Ile1590=) c.4842C>A (p.Ile1614=) | ClinVar dbSNP |
| 3 | g.38551474A>C | CA352143005 | SCN5A | c.4895T>G (p.Ile1632Ser) c.4898T>G (p.Ile1633Ser) c.4844T>G (p.Ile1615Ser) c.4736T>G (p.Ile1579Ser) c.4799T>G (p.Ile1600Ser) c.4769T>G (p.Ile1590Ser) c.4841T>G (p.Ile1614Ser) | |
| 3 | g.38551474A>G | CA352143006 | SCN5A | c.4895T>C (p.Ile1632Thr) c.4898T>C (p.Ile1633Thr) c.4844T>C (p.Ile1615Thr) c.4736T>C (p.Ile1579Thr) c.4799T>C (p.Ile1600Thr) c.4769T>C (p.Ile1590Thr) c.4841T>C (p.Ile1614Thr) | |
| 3 | g.38551474A>T | CA352143007 | SCN5A | c.4895T>A (p.Ile1632Asn) c.4898T>A (p.Ile1633Asn) c.4844T>A (p.Ile1615Asn) c.4736T>A (p.Ile1579Asn) c.4799T>A (p.Ile1600Asn) c.4769T>A (p.Ile1590Asn) c.4841T>A (p.Ile1614Asn) | |
| 3 | g.38551475T>A | CA352143008 | SCN5A | c.4894A>T (p.Ile1632Phe) c.4897A>T (p.Ile1633Phe) c.4843A>T (p.Ile1615Phe) c.4735A>T (p.Ile1579Phe) c.4798A>T (p.Ile1600Phe) c.4768A>T (p.Ile1590Phe) c.4840A>T (p.Ile1614Phe) | |
| 3 | g.38551475T>C | CA352143009 | SCN5A | c.4894A>G (p.Ile1632Val) c.4897A>G (p.Ile1633Val) c.4843A>G (p.Ile1615Val) c.4735A>G (p.Ile1579Val) c.4798A>G (p.Ile1600Val) c.4768A>G (p.Ile1590Val) c.4840A>G (p.Ile1614Val) | ClinVar dbSNP |