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 |
|---|---|---|---|---|---|
| MT | m.5774_14768del | CA2580610836 | |||
| MT | m.5780_14107del | CA2580610932 | |||
| MT | m.5782_13922del | CA250413 | ClinVar | ||
| MT | m.5788_13923del | CA2580618295 | |||
| MT | m.5794_14876del | CA250414 | ClinVar | ||
| MT | m.6005_11222del | CA645373331 | ClinVar | ||
| MT | m.6470_15588del | CA645373332 | ClinVar | ||
| MT | m.7129_13991del | CA645373333 | ClinVar | ||
| MT | m.7731_11256del | CA645373334 | ClinVar | ||
| MT | m.8290_13040del | CA645373335 | ClinVar | ||
| MT | m.8350_13450del | CA915952048 | ClinVar | ||
| MT | m.8483_13459del | CA645373336 | ClinVar | ||
| MT | m.8480_13440del | CA915952050 | ClinVar | ||
| MT | m.8587_12967del | CA645373337 | ClinVar | ||
| MT | m.8815_13722del | CA645373338 | ClinVar | ||
| MT | m.8839_14895del | CA645373339 | ClinVar | ||
| MT | m.9062_16052del | CA2580618296 | |||
| MT | m.10106_15067del | CA645373340 | ClinVar | ||
| MT | m.10775_14941del | CA2740090229 | ClinVar | ||
| MT | m.10942_10953del | CA2573105204 | MT-ND4 | c.183_194del (p.Thr62_Leu65del) | |
| MT | m.10952_10953insCCCCCCCCCCCC | CA2573105214 | MT-ND4 | c.193_194insCCCCCCCCCCCC (p.Pro64_Leu65insProProProPro) | |
| MT | m.10952dup | CA913165332 | MT-ND4 | c.193dup (p.Leu65ProfsTer23) | dbSNP |
| MT | m.10952del | CA2573105215 | MT-ND4 | c.193del (p.Leu65SerfsTer2) | |
| MT | m.10950_15540del | CA2580102079 | ClinVar | ||
| MT | m.10950C>A | CA414807665 | MT-ND4 | c.191C>A (p.Pro64His) | |
| MT | m.10950C= | CA2573327053 | MT-ND4 | c.191C= (p.Pro64=) | |
| MT | m.10950C>G | CA414807662 | MT-ND4 | c.191C>G (p.Pro64Arg) | |
| MT | m.10950C>T | CA414807663 | MT-ND4 | c.191C>T (p.Pro64Leu) | |
| MT | m.10951C>A | CA913165349 | MT-ND4 | c.192C>A (p.Pro64=) | |
| MT | m.10951C= | CA2499567073 | MT-ND4 | c.192C= (p.Pro64=) | |
| MT | m.10951C>G | CA913165353 | MT-ND4 | c.192C>G (p.Pro64=) | |
| MT | m.10951C>T | CA913165351 | MT-ND4 | c.192C>T (p.Pro64=) | dbSNP |
| MT | m.10952C>A | CA414807667 | MT-ND4 | c.193C>A (p.Leu65Ile) | |
| MT | m.10952C= | CA2573327057 | MT-ND4 | c.193C= (p.Leu65=) | |
| MT | m.10952C>G | CA414807668 | MT-ND4 | c.193C>G (p.Leu65Val) | |
| MT | m.10952C>T | CA414807669 | MT-ND4 | c.193C>T (p.Leu65Phe) | |
| MT | m.10953T>A | CA414807670 | MT-ND4 | c.194T>A (p.Leu65His) | |
| MT | m.10953T>C | CA414807672 | MT-ND4 | c.194T>C (p.Leu65Pro) | |
| MT | m.10953T>G | CA414807675 | MT-ND4 | c.194T>G (p.Leu65Arg) | |
| MT | m.10953T= | CA2573327058 | MT-ND4 | c.194T= (p.Leu65=) | |
| MT | m.10954C>A | CA913165370 | MT-ND4 | c.195C>A (p.Leu65=) | |
| MT | m.10954C= | CA2499567074 | MT-ND4 | c.195C= (p.Leu65=) | |
| MT | m.10954C>G | CA913165372 | MT-ND4 | c.195C>G (p.Leu65=) | |
| MT | m.10954C>T | CA337099055 | MT-ND4 | c.195C>T (p.Leu65=) | dbSNP |
| MT | m.10955C>A | CA414807678 | MT-ND4 | c.196C>A (p.Leu66Ile) | |
| MT | m.10955C= | CA2573327061 | MT-ND4 | c.196C= (p.Leu66=) | |
| MT | m.10955C>G | CA414807680 | MT-ND4 | c.196C>G (p.Leu66Val) | |
| MT | m.10955C>T | CA913165374 | MT-ND4 | c.196C>T (p.Leu66=) | dbSNP |
| MT | m.10956T>A | CA414807682 | MT-ND4 | c.197T>A (p.Leu66Gln) | |
| MT | m.10956T>C | CA414807683 | MT-ND4 | c.197T>C (p.Leu66Pro) |