UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51751420T>A | CA384879829 | SCN8A | c.2197T>A (p.Trp733Arg) c.44T>A c.201T>A n.2325T>A c.2230T>A (p.Trp744Arg) | |
| 12 | g.51751420T>C | CA384879830 | SCN8A | c.2197T>C (p.Trp733Arg) c.44T>C c.201T>C n.2325T>C c.2230T>C (p.Trp744Arg) | gnomAD v4 |
| 12 | g.51751420T>G | CA384879831 | SCN8A | c.2197T>G (p.Trp733Gly) c.44T>G c.201T>G n.2325T>G c.2230T>G (p.Trp744Gly) | |
| 12 | g.51751421G>A | CA384879834 | SCN8A | c.2198G>A (p.Trp733Ter) c.45G>A c.202G>A n.2326G>A c.2231G>A (p.Trp744Ter) | |
| 12 | g.51751421G>C | CA384879833 | SCN8A | c.2198G>C (p.Trp733Ser) c.45G>C c.202G>C n.2326G>C c.2231G>C (p.Trp744Ser) | |
| 12 | g.51751421G>T | CA384879832 | SCN8A | c.2198G>T (p.Trp733Leu) c.45G>T c.202G>T n.2326G>T c.2231G>T (p.Trp744Leu) | |
| 12 | g.51751423del | CA2726346117 | SCN8A | c.2200del (p.Glu734SerfsTer7) c.47del c.204del n.2328del c.2233del (p.Glu745SerfsTer7) | dbSNP |
| 12 | g.51751422G>A | CA384879837 | SCN8A | c.2199G>A (p.Trp733Ter) c.46G>A c.203G>A n.2327G>A c.2232G>A (p.Trp744Ter) | dbSNP |
| 12 | g.51751422G>C | CA384879835 | SCN8A | c.2199G>C (p.Trp733Cys) c.46G>C c.203G>C n.2327G>C c.2232G>C (p.Trp744Cys) | |
| 12 | g.51751422G= | CA2036196202 | SCN8A | c.2199G= (p.Trp733=) c.46G= c.203G= n.2327G= c.2232G= (p.Trp744=) | |
| 12 | g.51751422G>T | CA384879836 | SCN8A | c.2199G>T (p.Trp733Cys) c.46G>T c.203G>T n.2327G>T c.2232G>T (p.Trp744Cys) | |
| 12 | g.51751423G>A | CA6571452 | SCN8A | c.2200G>A (p.Glu734Lys) c.47G>A c.204G>A n.2328G>A c.2233G>A (p.Glu745Lys) | dbSNP ExAC |
| 12 | g.51751423G>C | CA384879838 | SCN8A | c.2200G>C (p.Glu734Gln) c.47G>C c.204G>C n.2328G>C c.2233G>C (p.Glu745Gln) | |
| 12 | g.51751423G= | CA2036196205 | SCN8A | c.2200G= (p.Glu734=) c.47G= c.204G= n.2328G= c.2233G= (p.Glu745=) | |
| 12 | g.51751423G>T | CA384879839 | SCN8A | c.2200G>T (p.Glu734Ter) c.47G>T c.204G>T n.2328G>T c.2233G>T (p.Glu745Ter) | dbSNP |
| 12 | g.51751424A>C | CA384879840 | SCN8A | c.2201A>C (p.Glu734Ala) c.48A>C c.205A>C n.2329A>C c.2234A>C (p.Glu745Ala) | |
| 12 | g.51751424A>G | CA384879841 | SCN8A | c.2201A>G (p.Glu734Gly) c.48A>G c.205A>G n.2329A>G c.2234A>G (p.Glu745Gly) | |
| 12 | g.51751424A>T | CA384879842 | SCN8A | c.2201A>T (p.Glu734Val) c.48A>T c.205A>T n.2329A>T c.2234A>T (p.Glu745Val) | gnomAD v4 |
| 12 | g.51751425G>A | CA480061039 | SCN8A | c.2202G>A (p.Glu734=) c.49G>A c.206G>A n.2330G>A c.2235G>A (p.Glu745=) | gnomAD v4 |
| 12 | g.51751425G>C | CA384879843 | SCN8A | c.2202G>C (p.Glu734Asp) c.49G>C c.206G>C n.2330G>C c.2235G>C (p.Glu745Asp) | |
| 12 | g.51751425G>T | CA384879844 | SCN8A | c.2202G>T (p.Glu734Asp) c.49G>T c.206G>T n.2330G>T c.2235G>T (p.Glu745Asp) | gnomAD v4 |
| 12 | g.51751426T>A | CA384879845 | SCN8A | c.2203T>A (p.Cys735Ser) c.50T>A c.207T>A n.2331T>A c.2236T>A (p.Cys746Ser) | |
| 12 | g.51751426T>C | CA384879846 | SCN8A | c.2203T>C (p.Cys735Arg) c.50T>C c.207T>C n.2331T>C c.2236T>C (p.Cys746Arg) | COSMIC |
| 12 | g.51751426T>G | CA384879847 | SCN8A | c.2203T>G (p.Cys735Gly) c.50T>G c.207T>G n.2331T>G c.2236T>G (p.Cys746Gly) | |
| 12 | g.51751427G>A | CA384879850 | SCN8A | c.2204G>A (p.Cys735Tyr) c.51G>A c.208G>A n.2332G>A c.2237G>A (p.Cys746Tyr) | |
| 12 | g.51751427G>C | CA384879848 | SCN8A | c.2204G>C (p.Cys735Ser) c.51G>C c.208G>C n.2332G>C c.2237G>C (p.Cys746Ser) | |
| 12 | g.51751427G>T | CA384879849 | SCN8A | c.2204G>T (p.Cys735Phe) c.51G>T c.208G>T n.2332G>T c.2237G>T (p.Cys746Phe) | |
| 12 | g.51751428C>A | CA384879851 | SCN8A | c.2205C>A (p.Cys735Ter) c.52C>A c.209C>A n.2333C>A c.2238C>A (p.Cys746Ter) | dbSNP |
| 12 | g.51751428C= | CA2036196209 | SCN8A | c.2205C= (p.Cys735=) c.52C= c.209C= n.2333C= c.2238C= (p.Cys746=) | |
| 12 | g.51751428C>G | CA384879852 | SCN8A | c.2205C>G (p.Cys735Trp) c.52C>G c.209C>G n.2333C>G c.2238C>G (p.Cys746Trp) | |
| 12 | g.51751428C>T | CA480061047 | SCN8A | c.2205C>T (p.Cys735=) c.52C>T c.209C>T n.2333C>T c.2238C>T (p.Cys746=) | |
| 12 | g.51751429C>A | CA384879853 | SCN8A | c.2206C>A (p.His736Asn) c.53C>A c.210C>A n.2334C>A c.2239C>A (p.His747Asn) | |
| 12 | g.51751429C= | CA2036196212 | SCN8A | c.2206C= (p.His736=) c.53C= c.210C= n.2334C= c.2239C= (p.His747=) | |
| 12 | g.51751429C>G | CA384879854 | SCN8A | c.2206C>G (p.His736Asp) c.53C>G c.210C>G n.2334C>G c.2239C>G (p.His747Asp) | |
| 12 | g.51751429C>T | CA384879855 | SCN8A | c.2206C>T (p.His736Tyr) c.53C>T c.210C>T n.2334C>T c.2239C>T (p.His747Tyr) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 12 | g.51751430A>C | CA384879856 | SCN8A | c.2207A>C (p.His736Pro) c.54A>C c.211A>C n.2335A>C c.2240A>C (p.His747Pro) | |
| 12 | g.51751430A>G | CA384879857 | SCN8A | c.2207A>G (p.His736Arg) c.54A>G c.211A>G n.2335A>G c.2240A>G (p.His747Arg) | gnomAD v4 |
| 12 | g.51751430A>T | CA384879858 | SCN8A | c.2207A>T (p.His736Leu) c.54A>T c.211A>T n.2335A>T c.2240A>T (p.His747Leu) | gnomAD v4 |
| 12 | g.51751431C>A | CA384879859 | SCN8A | c.2208C>A (p.His736Gln) c.55C>A c.212C>A n.2336C>A c.2241C>A (p.His747Gln) | |
| 12 | g.51751431C>G | CA384879860 | SCN8A | c.2208C>G (p.His736Gln) c.55C>G c.212C>G n.2336C>G c.2241C>G (p.His747Gln) | gnomAD v4 |
| 12 | g.51751431C>T | CA480061052 | SCN8A | c.2208C>T (p.His736=) c.55C>T c.212C>T n.2336C>T c.2241C>T (p.His747=) | |
| 12 | g.51751432C>A | CA384879861 | SCN8A | c.2209C>A (p.Pro737Thr) c.56C>A c.213C>A n.2337C>A c.2242C>A (p.Pro748Thr) | gnomAD v4 |
| 12 | g.51751432C>G | CA384879862 | SCN8A | c.2209C>G (p.Pro737Ala) c.56C>G c.213C>G n.2337C>G c.2242C>G (p.Pro748Ala) | gnomAD v4 |
| 12 | g.51751432C>T | CA384879863 | SCN8A | c.2209C>T (p.Pro737Ser) c.56C>T c.213C>T n.2337C>T c.2242C>T (p.Pro748Ser) | |
| 12 | g.51751433C>A | CA384879865 | SCN8A | c.2210C>A (p.Pro737His) c.57C>A c.214C>A n.2338C>A c.2243C>A (p.Pro748His) | |
| 12 | g.51751433C>G | CA384879866 | SCN8A | c.2210C>G (p.Pro737Arg) c.57C>G c.214C>G n.2338C>G c.2243C>G (p.Pro748Arg) | |
| 12 | g.51751433C>T | CA384879864 | SCN8A | c.2210C>T (p.Pro737Leu) c.57C>T c.214C>T n.2338C>T c.2243C>T (p.Pro748Leu) | |
| 12 | g.51751434C>A | CA480061056 | SCN8A | c.2211C>A (p.Pro737=) c.58C>A c.215C>A n.2339C>A c.2244C>A (p.Pro748=) | |
| 12 | g.51751434C= | CA2036196214 | SCN8A | c.2211C= (p.Pro737=) c.58C= c.215C= n.2339C= c.2244C= (p.Pro748=) | |
| 12 | g.51751434C>G | CA480061057 | SCN8A | c.2211C>G (p.Pro737=) c.58C>G c.215C>G n.2339C>G c.2244C>G (p.Pro748=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |