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.51806970G>A | CA480061866 | SCN8A | c.5484G>A (p.Glu1828=) c.3548G>A c.5361G>A (p.Glu1787=) c.5517G>A (p.Glu1839=) | gnomAD v4 |
| 12 | g.51806970G>C | CA384886702 | SCN8A | c.5484G>C (p.Glu1828Asp) c.3548G>C c.5361G>C (p.Glu1787Asp) c.5517G>C (p.Glu1839Asp) | |
| 12 | g.51806970G>T | CA384886714 | SCN8A | c.5484G>T (p.Glu1828Asp) c.3548G>T c.5361G>T (p.Glu1787Asp) c.5517G>T (p.Glu1839Asp) | gnomAD v4 |
| 12 | g.51806971C>A | CA384886726 | SCN8A | c.5485C>A (p.Leu1829Ile) c.3549C>A c.5362C>A (p.Leu1788Ile) c.5518C>A (p.Leu1840Ile) | |
| 12 | g.51806971C= | CA2036194183 | SCN8A | c.5485C= (p.Leu1829=) c.3549C= c.5362C= (p.Leu1788=) c.5518C= (p.Leu1840=) | |
| 12 | g.51806971C>G | CA384886745 | SCN8A | c.5485C>G (p.Leu1829Val) c.3549C>G c.5362C>G (p.Leu1788Val) c.5518C>G (p.Leu1840Val) | |
| 12 | g.51806971C>T | CA6571923 | SCN8A | c.5485C>T (p.Leu1829Phe) c.3549C>T c.5362C>T (p.Leu1788Phe) c.5518C>T (p.Leu1840Phe) | dbSNP ExAC |
| 12 | g.51806972T>A | CA384886786 | SCN8A | c.5486T>A (p.Leu1829His) c.3550T>A c.5363T>A (p.Leu1788His) c.5519T>A (p.Leu1840His) | |
| 12 | g.51806972T>C | CA384886761 | SCN8A | c.5486T>C (p.Leu1829Pro) c.3550T>C c.5363T>C (p.Leu1788Pro) c.5519T>C (p.Leu1840Pro) | |
| 12 | g.51806972T>G | CA384886780 | SCN8A | c.5486T>G (p.Leu1829Arg) c.3550T>G c.5363T>G (p.Leu1788Arg) c.5519T>G (p.Leu1840Arg) | |
| 12 | g.51806973C>A | CA480061869 | SCN8A | c.5487C>A (p.Leu1829=) c.3551C>A c.5364C>A (p.Leu1788=) c.5520C>A (p.Leu1840=) | |
| 12 | g.51806973C= | CA2036194186 | SCN8A | c.5487C= (p.Leu1829=) c.3551C= c.5364C= (p.Leu1788=) c.5520C= (p.Leu1840=) | |
| 12 | g.51806973C>G | CA480061870 | SCN8A | c.5487C>G (p.Leu1829=) c.3551C>G c.5364C>G (p.Leu1788=) c.5520C>G (p.Leu1840=) | dbSNP |
| 12 | g.51806973C>T | CA480061873 | SCN8A | c.5487C>T (p.Leu1829=) c.3551C>T c.5364C>T (p.Leu1788=) c.5520C>T (p.Leu1840=) | dbSNP COSMIC COSMIC |
| 12 | g.51806974A>C | CA384886801 | SCN8A | c.5488A>C (p.Ile1830Leu) c.3552A>C c.5365A>C (p.Ile1789Leu) c.5521A>C (p.Ile1841Leu) | |
| 12 | g.51806974A>G | CA384886804 | SCN8A | c.5488A>G (p.Ile1830Val) c.3552A>G c.5365A>G (p.Ile1789Val) c.5521A>G (p.Ile1841Val) | |
| 12 | g.51806974A>T | CA384886815 | SCN8A | c.5488A>T (p.Ile1830Phe) c.3552A>T c.5365A>T (p.Ile1789Phe) c.5521A>T (p.Ile1841Phe) | gnomAD v4 |
| 12 | g.51806975T>A | CA384886818 | SCN8A | c.5489T>A (p.Ile1830Asn) c.3553T>A c.5366T>A (p.Ile1789Asn) c.5522T>A (p.Ile1841Asn) | |
| 12 | g.51806975T>C | CA384886819 | SCN8A | c.5489T>C (p.Ile1830Thr) c.3553T>C c.5366T>C (p.Ile1789Thr) c.5522T>C (p.Ile1841Thr) | |
| 12 | g.51806975T>G | CA384886820 | SCN8A | c.5489T>G (p.Ile1830Ser) c.3553T>G c.5366T>G (p.Ile1789Ser) c.5522T>G (p.Ile1841Ser) | |
| 12 | g.51806976C>A | CA480061875 | SCN8A | c.5490C>A (p.Ile1830=) c.3554C>A c.5367C>A (p.Ile1789=) c.5523C>A (p.Ile1841=) | |
| 12 | g.51806976C= | CA2036194189 | SCN8A | c.5490C= (p.Ile1830=) c.3554C= c.5367C= (p.Ile1789=) c.5523C= (p.Ile1841=) | |
| 12 | g.51806976C>G | CA384886824 | SCN8A | c.5490C>G (p.Ile1830Met) c.3554C>G c.5367C>G (p.Ile1789Met) c.5523C>G (p.Ile1841Met) | |
| 12 | g.51806976C>T | CA6571924 | SCN8A | c.5490C>T (p.Ile1830=) c.3554C>T c.5367C>T (p.Ile1789=) c.5523C>T (p.Ile1841=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51806977G>A | CA6571925 | SCN8A | c.5491G>A (p.Ala1831Thr) c.3555G>A c.5368G>A (p.Ala1790Thr) c.5524G>A (p.Ala1842Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51806977G>C | CA384886847 | SCN8A | c.5491G>C (p.Ala1831Pro) c.3555G>C c.5368G>C (p.Ala1790Pro) c.5524G>C (p.Ala1842Pro) | |
| 12 | g.51806977G= | CA2036194203 | SCN8A | c.5491G= (p.Ala1831=) c.3555G= c.5368G= (p.Ala1790=) c.5524G= (p.Ala1842=) | |
| 12 | g.51806977G>T | CA384886850 | SCN8A | c.5491G>T (p.Ala1831Ser) c.3555G>T c.5368G>T (p.Ala1790Ser) c.5524G>T (p.Ala1842Ser) | |
| 12 | g.51806978C>A | CA384886852 | SCN8A | c.5492C>A (p.Ala1831Asp) c.3556C>A c.5369C>A (p.Ala1790Asp) c.5525C>A (p.Ala1842Asp) | |
| 12 | g.51806978C>G | CA384886860 | SCN8A | c.5492C>G (p.Ala1831Gly) c.3556C>G c.5369C>G (p.Ala1790Gly) c.5525C>G (p.Ala1842Gly) | gnomAD v4 |
| 12 | g.51806978C>T | CA384886856 | SCN8A | c.5492C>T (p.Ala1831Val) c.3556C>T c.5369C>T (p.Ala1790Val) c.5525C>T (p.Ala1842Val) | |
| 12 | g.51806979T>A | CA480061882 | SCN8A | c.5493T>A (p.Ala1831=) c.3557T>A c.5370T>A (p.Ala1790=) c.5526T>A (p.Ala1842=) | |
| 12 | g.51806979T>C | CA480061883 | SCN8A | c.5493T>C (p.Ala1831=) c.3557T>C c.5370T>C (p.Ala1790=) c.5526T>C (p.Ala1842=) | |
| 12 | g.51806979T>G | CA480061884 | SCN8A | c.5493T>G (p.Ala1831=) c.3557T>G c.5370T>G (p.Ala1790=) c.5526T>G (p.Ala1842=) | |
| 12 | g.51806980A>C | CA384886865 | SCN8A | c.5494A>C (p.Met1832Leu) c.3558A>C c.5371A>C (p.Met1791Leu) c.5527A>C (p.Met1843Leu) | |
| 12 | g.51806980A>G | CA384886876 | SCN8A | c.5494A>G (p.Met1832Val) c.3558A>G c.5371A>G (p.Met1791Val) c.5527A>G (p.Met1843Val) | |
| 12 | g.51806980A>T | CA384886873 | SCN8A | c.5494A>T (p.Met1832Leu) c.3558A>T c.5371A>T (p.Met1791Leu) c.5527A>T (p.Met1843Leu) | |
| 12 | g.51806981T>A | CA384886877 | SCN8A | c.5495T>A (p.Met1832Lys) c.3559T>A c.5372T>A (p.Met1791Lys) c.5528T>A (p.Met1843Lys) | |
| 12 | g.51806981T>C | CA384886880 | SCN8A | c.5495T>C (p.Met1832Thr) c.3559T>C c.5372T>C (p.Met1791Thr) c.5528T>C (p.Met1843Thr) | |
| 12 | g.51806981T>G | CA384886882 | SCN8A | c.5495T>G (p.Met1832Arg) c.3559T>G c.5372T>G (p.Met1791Arg) c.5528T>G (p.Met1843Arg) | |
| 12 | g.51806982G>A | CA384886885 | SCN8A | c.5496G>A (p.Met1832Ile) c.3560G>A c.5373G>A (p.Met1791Ile) c.5529G>A (p.Met1843Ile) | COSMIC COSMIC |
| 12 | g.51806982G>C | CA384886887 | SCN8A | c.5496G>C (p.Met1832Ile) c.3560G>C c.5373G>C (p.Met1791Ile) c.5529G>C (p.Met1843Ile) | |
| 12 | g.51806982G>T | CA384886890 | SCN8A | c.5496G>T (p.Met1832Ile) c.3560G>T c.5373G>T (p.Met1791Ile) c.5529G>T (p.Met1843Ile) | |
| 12 | g.51806983G>A | CA384886910 | SCN8A | c.5497G>A (p.Asp1833Asn) c.3561G>A c.5374G>A (p.Asp1792Asn) c.5530G>A (p.Asp1844Asn) | |
| 12 | g.51806983G>C | CA384886914 | SCN8A | c.5497G>C (p.Asp1833His) c.3561G>C c.5374G>C (p.Asp1792His) c.5530G>C (p.Asp1844His) | |
| 12 | g.51806983G>T | CA384886918 | SCN8A | c.5497G>T (p.Asp1833Tyr) c.3561G>T c.5374G>T (p.Asp1792Tyr) c.5530G>T (p.Asp1844Tyr) | |
| 12 | g.51806984A>C | CA384886921 | SCN8A | c.5498A>C (p.Asp1833Ala) c.3562A>C c.5375A>C (p.Asp1792Ala) c.5531A>C (p.Asp1844Ala) | |
| 12 | g.51806984A>G | CA384886922 | SCN8A | c.5498A>G (p.Asp1833Gly) c.3562A>G c.5375A>G (p.Asp1792Gly) c.5531A>G (p.Asp1844Gly) | ClinVar |
| 12 | g.51806984A>T | CA384886923 | SCN8A | c.5498A>T (p.Asp1833Val) c.3562A>T c.5375A>T (p.Asp1792Val) c.5531A>T (p.Asp1844Val) | |
| 12 | g.51806985T>A | CA384886937 | SCN8A | c.5499T>A (p.Asp1833Glu) c.3563T>A c.5376T>A (p.Asp1792Glu) c.5532T>A (p.Asp1844Glu) | ClinVar dbSNP |