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.51807017G>A | CA384887242 | SCN8A | c.5531G>A (p.Cys1844Tyr) c.5408G>A (p.Cys1803Tyr) c.5564G>A (p.Cys1855Tyr) | |
| 12 | g.51807017G>C | CA384887245 | SCN8A | c.5531G>C (p.Cys1844Ser) c.5408G>C (p.Cys1803Ser) c.5564G>C (p.Cys1855Ser) | ClinVar |
| 12 | g.51807017G>T | CA384887246 | SCN8A | c.5531G>T (p.Cys1844Phe) c.5408G>T (p.Cys1803Phe) c.5564G>T (p.Cys1855Phe) | |
| 12 | g.51807018C>A | CA384887253 | SCN8A | c.5532C>A (p.Cys1844Ter) c.5409C>A (p.Cys1803Ter) c.5565C>A (p.Cys1855Ter) | dbSNP |
| 12 | g.51807018C= | CA2036194264 | SCN8A | c.5532C= (p.Cys1844=) c.5409C= (p.Cys1803=) c.5565C= (p.Cys1855=) | |
| 12 | g.51807018C>G | CA384887258 | SCN8A | c.5532C>G (p.Cys1844Trp) c.5409C>G (p.Cys1803Trp) c.5565C>G (p.Cys1855Trp) | |
| 12 | g.51807018C>T | CA480061938 | SCN8A | c.5532C>T (p.Cys1844=) c.5409C>T (p.Cys1803=) c.5565C>T (p.Cys1855=) | |
| 12 | g.51807019T>A | CA384887264 | SCN8A | c.5533T>A (p.Leu1845Met) c.5410T>A (p.Leu1804Met) c.5566T>A (p.Leu1856Met) | |
| 12 | g.51807019T>C | CA480061939 | SCN8A | c.5533T>C (p.Leu1845=) c.5410T>C (p.Leu1804=) c.5566T>C (p.Leu1856=) | |
| 12 | g.51807019T>G | CA384887267 | SCN8A | c.5533T>G (p.Leu1845Val) c.5410T>G (p.Leu1804Val) c.5566T>G (p.Leu1856Val) | |
| 12 | g.51807020T>A | CA384887272 | SCN8A | c.5534T>A (p.Leu1845Ter) c.5411T>A (p.Leu1804Ter) c.5567T>A (p.Leu1856Ter) | dbSNP |
| 12 | g.51807020T>C | CA384887278 | SCN8A | c.5534T>C (p.Leu1845Ser) c.5411T>C (p.Leu1804Ser) c.5567T>C (p.Leu1856Ser) | ClinVar dbSNP |
| 12 | g.51807020T>G | CA384887281 | SCN8A | c.5534T>G (p.Leu1845Trp) c.5411T>G (p.Leu1804Trp) c.5567T>G (p.Leu1856Trp) | |
| 12 | g.51807020T= | CA2036194268 | SCN8A | c.5534T= (p.Leu1845=) c.5411T= (p.Leu1804=) c.5567T= (p.Leu1856=) | |
| 12 | g.51807021G>A | CA480061940 | SCN8A | c.5535G>A (p.Leu1845=) c.5412G>A (p.Leu1804=) c.5568G>A (p.Leu1856=) | COSMIC |
| 12 | g.51807021G>C | CA384887284 | SCN8A | c.5535G>C (p.Leu1845Phe) c.5412G>C (p.Leu1804Phe) c.5568G>C (p.Leu1856Phe) | |
| 12 | g.51807021G>T | CA384887289 | SCN8A | c.5535G>T (p.Leu1845Phe) c.5412G>T (p.Leu1804Phe) c.5568G>T (p.Leu1856Phe) | |
| 12 | g.51807022G>A | CA384887294 | SCN8A | c.5536G>A (p.Asp1846Asn) c.5413G>A (p.Asp1805Asn) c.5569G>A (p.Asp1857Asn) | |
| 12 | g.51807022G>C | CA384887298 | SCN8A | c.5536G>C (p.Asp1846His) c.5413G>C (p.Asp1805His) c.5569G>C (p.Asp1857His) | |
| 12 | g.51807022G>T | CA384887301 | SCN8A | c.5536G>T (p.Asp1846Tyr) c.5413G>T (p.Asp1805Tyr) c.5569G>T (p.Asp1857Tyr) | |
| 12 | g.51807023A>C | CA384887302 | SCN8A | c.5537A>C (p.Asp1846Ala) c.5414A>C (p.Asp1805Ala) c.5570A>C (p.Asp1857Ala) | |
| 12 | g.51807023A>G | CA384887303 | SCN8A | c.5537A>G (p.Asp1846Gly) c.5414A>G (p.Asp1805Gly) c.5570A>G (p.Asp1857Gly) | |
| 12 | g.51807023A>T | CA384887308 | SCN8A | c.5537A>T (p.Asp1846Val) c.5414A>T (p.Asp1805Val) c.5570A>T (p.Asp1857Val) | |
| 12 | g.51807024C>A | CA384887325 | SCN8A | c.5538C>A (p.Asp1846Glu) c.5415C>A (p.Asp1805Glu) c.5571C>A (p.Asp1857Glu) | ClinVar dbSNP |
| 12 | g.51807024C= | CA2036194269 | SCN8A | c.5538C= (p.Asp1846=) c.5415C= (p.Asp1805=) c.5571C= (p.Asp1857=) | |
| 12 | g.51807024C>G | CA384887312 | SCN8A | c.5538C>G (p.Asp1846Glu) c.5415C>G (p.Asp1805Glu) c.5571C>G (p.Asp1857Glu) | |
| 12 | g.51807024C>T | CA480061943 | SCN8A | c.5538C>T (p.Asp1846=) c.5415C>T (p.Asp1805=) c.5571C>T (p.Asp1857=) | dbSNP |
| 12 | g.51807025A>C | CA384887332 | SCN8A | c.5539A>C (p.Ile1847Leu) c.5416A>C (p.Ile1806Leu) c.5572A>C (p.Ile1858Leu) | |
| 12 | g.51807025A>G | CA384887336 | SCN8A | c.5539A>G (p.Ile1847Val) c.5416A>G (p.Ile1806Val) c.5572A>G (p.Ile1858Val) | |
| 12 | g.51807025A>T | CA384887340 | SCN8A | c.5539A>T (p.Ile1847Phe) c.5416A>T (p.Ile1806Phe) c.5572A>T (p.Ile1858Phe) | |
| 12 | g.51807026T>A | CA384887345 | SCN8A | c.5540T>A (p.Ile1847Asn) c.5417T>A (p.Ile1806Asn) c.5573T>A (p.Ile1858Asn) | |
| 12 | g.51807026T>C | CA384887349 | SCN8A | c.5540T>C (p.Ile1847Thr) c.5417T>C (p.Ile1806Thr) c.5573T>C (p.Ile1858Thr) | |
| 12 | g.51807026T>G | CA384887354 | SCN8A | c.5540T>G (p.Ile1847Ser) c.5417T>G (p.Ile1806Ser) c.5573T>G (p.Ile1858Ser) | |
| 12 | g.51807027C>A | CA480061947 | SCN8A | c.5541C>A (p.Ile1847=) c.5418C>A (p.Ile1806=) c.5574C>A (p.Ile1858=) | |
| 12 | g.51807027C>G | CA384887357 | SCN8A | c.5541C>G (p.Ile1847Met) c.5418C>G (p.Ile1806Met) c.5574C>G (p.Ile1858Met) | |
| 12 | g.51807027C>T | CA480061949 | SCN8A | c.5541C>T (p.Ile1847=) c.5418C>T (p.Ile1806=) c.5574C>T (p.Ile1858=) | |
| 12 | g.51807028C>A | CA384887361 | SCN8A | c.5542C>A (p.Leu1848Ile) c.5419C>A (p.Leu1807Ile) c.5575C>A (p.Leu1859Ile) | |
| 12 | g.51807028C>G | CA384887362 | SCN8A | c.5542C>G (p.Leu1848Val) c.5419C>G (p.Leu1807Val) c.5575C>G (p.Leu1859Val) | |
| 12 | g.51807028C>T | CA384887363 | SCN8A | c.5542C>T (p.Leu1848Phe) c.5419C>T (p.Leu1807Phe) c.5575C>T (p.Leu1859Phe) | |
| 12 | g.51807029T>A | CA384887369 | SCN8A | c.5543T>A (p.Leu1848His) c.5420T>A (p.Leu1807His) c.5576T>A (p.Leu1859His) | |
| 12 | g.51807029T>C | CA384887372 | SCN8A | c.5543T>C (p.Leu1848Pro) c.5420T>C (p.Leu1807Pro) c.5576T>C (p.Leu1859Pro) | |
| 12 | g.51807029T>G | CA384887376 | SCN8A | c.5543T>G (p.Leu1848Arg) c.5420T>G (p.Leu1807Arg) c.5576T>G (p.Leu1859Arg) | |
| 12 | g.51807030T>A | CA480061953 | SCN8A | c.5544T>A (p.Leu1848=) c.5421T>A (p.Leu1807=) c.5577T>A (p.Leu1859=) | |
| 12 | g.51807030T>C | CA236327674 | SCN8A | c.5544T>C (p.Leu1848=) c.5421T>C (p.Leu1807=) c.5577T>C (p.Leu1859=) | dbSNP gnomAD v4 |
| 12 | g.51807030T>G | CA480061952 | SCN8A | c.5544T>G (p.Leu1848=) c.5421T>G (p.Leu1807=) c.5577T>G (p.Leu1859=) | |
| 12 | g.51807030T= | CA2036194272 | SCN8A | c.5544T= (p.Leu1848=) c.5421T= (p.Leu1807=) c.5577T= (p.Leu1859=) | |
| 12 | g.51807031T>A | CA384887385 | SCN8A | c.5545T>A (p.Phe1849Ile) c.5422T>A (p.Phe1808Ile) c.5578T>A (p.Phe1860Ile) | |
| 12 | g.51807031T>C | CA384887389 | SCN8A | c.5545T>C (p.Phe1849Leu) c.5422T>C (p.Phe1808Leu) c.5578T>C (p.Phe1860Leu) | |
| 12 | g.51807031T>G | CA384887382 | SCN8A | c.5545T>G (p.Phe1849Val) c.5422T>G (p.Phe1808Val) c.5578T>G (p.Phe1860Val) | |
| 12 | g.51807032T>A | CA384887398 | SCN8A | c.5546T>A (p.Phe1849Tyr) c.5423T>A (p.Phe1808Tyr) c.5579T>A (p.Phe1860Tyr) |