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 |
|---|---|---|---|---|---|
| 12 | g.51806346_51806349dup | CA2695216870 | SCN8A | c.4860_4863dup (p.Ala1622IlefsTer?) c.2924_2927dup c.4737_4740dup (p.Ala1581IlefsTer?) c.4893_4896dup (p.Ala1633IlefsTer?) | |
| 12 | g.51806348T>A | CA384880396 | SCN8A | c.4862T>A (p.Leu1621Ter) c.2926T>A c.4739T>A (p.Leu1580Ter) c.4895T>A (p.Leu1632Ter) | dbSNP |
| 12 | g.51806348T>C | CA384880395 | SCN8A | c.4862T>C (p.Leu1621Ser) c.2926T>C c.4739T>C (p.Leu1580Ser) c.4895T>C (p.Leu1632Ser) | |
| 12 | g.51806348T>G | CA10586297 | SCN8A | c.4862T>G (p.Leu1621Trp) c.2926T>G c.4739T>G (p.Leu1580Trp) c.4895T>G (p.Leu1632Trp) | ClinVar dbSNP |
| 12 | g.51806348T= | CA2036192806 | SCN8A | c.4862T= (p.Leu1621=) c.2926T= c.4739T= (p.Leu1580=) c.4895T= (p.Leu1632=) | |
| 12 | g.51806349G>A | CA479788057 | SCN8A | c.4863G>A (p.Leu1621=) c.2927G>A c.4740G>A (p.Leu1580=) c.4896G>A (p.Leu1632=) | |
| 12 | g.51806349G>C | CA384880397 | SCN8A | c.4863G>C (p.Leu1621Phe) c.2927G>C c.4740G>C (p.Leu1580Phe) c.4896G>C (p.Leu1632Phe) | |
| 12 | g.51806349G>T | CA384880398 | SCN8A | c.4863G>T (p.Leu1621Phe) c.2927G>T c.4740G>T (p.Leu1580Phe) c.4896G>T (p.Leu1632Phe) | gnomAD v4 |
| 12 | g.51806350G>A | CA384880399 | SCN8A | c.4864G>A (p.Ala1622Thr) c.2928G>A c.4741G>A (p.Ala1581Thr) c.4897G>A (p.Ala1633Thr) | |
| 12 | g.51806350G>C | CA384880400 | SCN8A | c.4864G>C (p.Ala1622Pro) c.2928G>C c.4741G>C (p.Ala1581Pro) c.4897G>C (p.Ala1633Pro) | |
| 12 | g.51806350G>T | CA384880401 | SCN8A | c.4864G>T (p.Ala1622Ser) c.2928G>T c.4741G>T (p.Ala1581Ser) c.4897G>T (p.Ala1633Ser) | |
| 12 | g.51806351C>A | CA384880402 | SCN8A | c.4865C>A (p.Ala1622Asp) c.2929C>A c.4742C>A (p.Ala1581Asp) c.4898C>A (p.Ala1633Asp) | ClinVar dbSNP gnomAD v4 |
| 12 | g.51806351C= | CA2036192815 | SCN8A | c.4865C= (p.Ala1622=) c.2929C= c.4742C= (p.Ala1581=) c.4898C= (p.Ala1633=) | |
| 12 | g.51806351C>G | CA384880403 | SCN8A | c.4865C>G (p.Ala1622Gly) c.2929C>G c.4742C>G (p.Ala1581Gly) c.4898C>G (p.Ala1633Gly) | |
| 12 | g.51806351C>T | CA384880404 | SCN8A | c.4865C>T (p.Ala1622Val) c.2929C>T c.4742C>T (p.Ala1581Val) c.4898C>T (p.Ala1633Val) | |
| 12 | g.51806352C>A | CA479788060 | SCN8A | c.4866C>A (p.Ala1622=) c.2930C>A c.4743C>A (p.Ala1581=) c.4899C>A (p.Ala1633=) | gnomAD v4 |
| 12 | g.51806352C>G | CA479788061 | SCN8A | c.4866C>G (p.Ala1622=) c.2930C>G c.4743C>G (p.Ala1581=) c.4899C>G (p.Ala1633=) | |
| 12 | g.51806352C>T | CA479788062 | SCN8A | c.4866C>T (p.Ala1622=) c.2930C>T c.4743C>T (p.Ala1581=) c.4899C>T (p.Ala1633=) | |
| 12 | g.51806353C>A | CA384880405 | SCN8A | c.4867C>A (p.Arg1623Ser) c.2931C>A c.4744C>A (p.Arg1582Ser) c.4900C>A (p.Arg1634Ser) | |
| 12 | g.51806353C= | CA2036192818 | SCN8A | c.4867C= (p.Arg1623=) c.2931C= c.4744C= (p.Arg1582=) c.4900C= (p.Arg1634=) | |
| 12 | g.51806353C>G | CA384880406 | SCN8A | c.4867C>G (p.Arg1623Gly) c.2931C>G c.4744C>G (p.Arg1582Gly) c.4900C>G (p.Arg1634Gly) | |
| 12 | g.51806353C>T | CA236327337 | SCN8A | c.4867C>T (p.Arg1623Cys) c.2931C>T c.4744C>T (p.Arg1582Cys) c.4900C>T (p.Arg1634Cys) | ClinVar dbSNP |
| 12 | g.51806354G>A | CA384880409 | SCN8A | c.4868G>A (p.Arg1623His) c.2932G>A c.4745G>A (p.Arg1582His) c.4901G>A (p.Arg1634His) | |
| 12 | g.51806354G>C | CA384880408 | SCN8A | c.4868G>C (p.Arg1623Pro) c.2932G>C c.4745G>C (p.Arg1582Pro) c.4901G>C (p.Arg1634Pro) | |
| 12 | g.51806354G>T | CA384880407 | SCN8A | c.4868G>T (p.Arg1623Leu) c.2932G>T c.4745G>T (p.Arg1582Leu) c.4901G>T (p.Arg1634Leu) | |
| 12 | g.51806355T>A | CA479788066 | SCN8A | c.4869T>A (p.Arg1623=) c.2933T>A c.4746T>A (p.Arg1582=) c.4902T>A (p.Arg1634=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51806355T>C | CA479788064 | SCN8A | c.4869T>C (p.Arg1623=) c.2933T>C c.4746T>C (p.Arg1582=) c.4902T>C (p.Arg1634=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51806355T>G | CA479788063 | SCN8A | c.4869T>G (p.Arg1623=) c.2933T>G c.4746T>G (p.Arg1582=) c.4902T>G (p.Arg1634=) | |
| 12 | g.51806355T= | CA2036192822 | SCN8A | c.4869T= (p.Arg1623=) c.2933T= c.4746T= (p.Arg1582=) c.4902T= (p.Arg1634=) | |
| 12 | g.51806356A>C | CA384880410 | SCN8A | c.4870A>C (p.Ile1624Leu) c.2934A>C c.4747A>C (p.Ile1583Leu) c.4903A>C (p.Ile1635Leu) | |
| 12 | g.51806356A>G | CA384880411 | SCN8A | c.4870A>G (p.Ile1624Val) c.2934A>G c.4747A>G (p.Ile1583Val) c.4903A>G (p.Ile1635Val) | ClinVar dbSNP |
| 12 | g.51806356A>T | CA384880412 | SCN8A | c.4870A>T (p.Ile1624Phe) c.2934A>T c.4747A>T (p.Ile1583Phe) c.4903A>T (p.Ile1635Phe) | |
| 12 | g.51806357T>A | CA384880413 | SCN8A | c.4871T>A (p.Ile1624Asn) c.2935T>A c.4748T>A (p.Ile1583Asn) c.4904T>A (p.Ile1635Asn) | |
| 12 | g.51806357T>C | CA384880414 | SCN8A | c.4871T>C (p.Ile1624Thr) c.2935T>C c.4748T>C (p.Ile1583Thr) c.4904T>C (p.Ile1635Thr) | |
| 12 | g.51806357T>G | CA384880415 | SCN8A | c.4871T>G (p.Ile1624Ser) c.2935T>G c.4748T>G (p.Ile1583Ser) c.4904T>G (p.Ile1635Ser) | ClinVar |
| 12 | g.51806358T>A | CA479788071 | SCN8A | c.4872T>A (p.Ile1624=) c.2936T>A c.4749T>A (p.Ile1583=) c.4905T>A (p.Ile1635=) | |
| 12 | g.51806358T>C | CA479788073 | SCN8A | c.4872T>C (p.Ile1624=) c.2936T>C c.4749T>C (p.Ile1583=) c.4905T>C (p.Ile1635=) | |
| 12 | g.51806358T>G | CA384880416 | SCN8A | c.4872T>G (p.Ile1624Met) c.2936T>G c.4749T>G (p.Ile1583Met) c.4905T>G (p.Ile1635Met) | |
| 12 | g.51806359G>A | CA10586298 | SCN8A | c.4873G>A (p.Gly1625Arg) c.2937G>A c.4750G>A (p.Gly1584Arg) c.4906G>A (p.Gly1636Arg) | ClinVar dbSNP |
| 12 | g.51806359G>C | CA384880417 | SCN8A | c.4873G>C (p.Gly1625Arg) c.2937G>C c.4750G>C (p.Gly1584Arg) c.4906G>C (p.Gly1636Arg) | |
| 12 | g.51806359G= | CA2036192835 | SCN8A | c.4873G= (p.Gly1625=) c.2937G= c.4750G= (p.Gly1584=) c.4906G= (p.Gly1636=) | |
| 12 | g.51806359G>T | CA16606656 | SCN8A | c.4873G>T (p.Gly1625Trp) c.2937G>T c.4750G>T (p.Gly1584Trp) c.4906G>T (p.Gly1636Trp) | ClinVar dbSNP |
| 12 | g.51806359_51806367dup | CA2695216871 | SCN8A | c.4873_4881dup (p.Ile1627_Leu1628insGlyArgIle) c.2937_2945dup c.4750_4758dup (p.Ile1586_Leu1587insGlyArgIle) c.4906_4914dup (p.Ile1638_Leu1639insGlyArgIle) | |
| 12 | g.51806360G>A | CA384880418 | SCN8A | c.4874G>A (p.Gly1625Glu) c.2938G>A c.4751G>A (p.Gly1584Glu) c.4907G>A (p.Gly1636Glu) | |
| 12 | g.51806360G>C | CA384880419 | SCN8A | c.4874G>C (p.Gly1625Ala) c.2938G>C c.4751G>C (p.Gly1584Ala) c.4907G>C (p.Gly1636Ala) | |
| 12 | g.51806360G>T | CA384880420 | SCN8A | c.4874G>T (p.Gly1625Val) c.2938G>T c.4751G>T (p.Gly1584Val) c.4907G>T (p.Gly1636Val) | |
| 12 | g.51806361G>A | CA6571875 | SCN8A | c.4875G>A (p.Gly1625=) c.2939G>A c.4752G>A (p.Gly1584=) c.4908G>A (p.Gly1636=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51806361G>C | CA479788080 | SCN8A | c.4875G>C (p.Gly1625=) c.2939G>C c.4752G>C (p.Gly1584=) c.4908G>C (p.Gly1636=) | |
| 12 | g.51806361G= | CA2036192843 | SCN8A | c.4875G= (p.Gly1625=) c.2939G= c.4752G= (p.Gly1584=) c.4908G= (p.Gly1636=) | |
| 12 | g.51806361G>T | CA479788082 | SCN8A | c.4875G>T (p.Gly1625=) c.2939G>T c.4752G>T (p.Gly1584=) c.4908G>T (p.Gly1636=) |