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.6174_6180del | CA2573104823 | MT-CO1 | c.271_277del (p.Asp91ArgfsTer5) | |
| MT | m.6177A= | CA2573323987 | MT-CO1 | c.274A= (p.Met92=) | |
| MT | m.6177A>C | CA414782229 | MT-CO1 | c.274A>C (p.Met92Leu) | |
| MT | m.6177A>G | CA414782224 | MT-CO1 | c.274A>G (p.Met92Val) | dbSNP |
| MT | m.6177A>T | CA414782226 | MT-CO1 | c.274A>T (p.Met92Leu) | |
| MT | m.6178T>A | CA414782232 | MT-CO1 | c.275T>A (p.Met92Lys) | |
| MT | m.6178T>C | CA414782237 | MT-CO1 | c.275T>C (p.Met92Thr) | |
| MT | m.6178T>G | CA414782238 | MT-CO1 | c.275T>G (p.Met92Arg) | |
| MT | m.6178T= | CA2573323991 | MT-CO1 | c.275T= (p.Met92=) | |
| MT | m.6179G>A | CA337097335 | MT-CO1 | c.276G>A (p.Met92Ile) | dbSNP |
| MT | m.6179G>C | CA414782243 | MT-CO1 | c.276G>C (p.Met92Ile) | |
| MT | m.6179G= | CA2499564740 | MT-CO1 | c.276G= (p.Met92=) | |
| MT | m.6179G>T | CA414782246 | MT-CO1 | c.276G>T (p.Met92Ile) | |
| MT | m.6180G>A | CA414782249 | MT-CO1 | c.277G>A (p.Ala93Thr) | |
| MT | m.6180G>C | CA414782252 | MT-CO1 | c.277G>C (p.Ala93Pro) | |
| MT | m.6180G= | CA2573323995 | MT-CO1 | c.277G= (p.Ala93=) | |
| MT | m.6180G>T | CA414782254 | MT-CO1 | c.277G>T (p.Ala93Ser) | |
| MT | m.6181C>A | CA414782257 | MT-CO1 | c.278C>A (p.Ala93Glu) | |
| MT | m.6181C= | CA2573323998 | MT-CO1 | c.278C= (p.Ala93=) | |
| MT | m.6181C>G | CA414782262 | MT-CO1 | c.278C>G (p.Ala93Gly) | |
| MT | m.6181C>T | CA414782264 | MT-CO1 | c.278C>T (p.Ala93Val) | |
| MT | m.6182G>A | CA337097337 | MT-CO1 | c.279G>A (p.Ala93=) | dbSNP |
| MT | m.6182G>C | CA913181113 | MT-CO1 | c.279G>C (p.Ala93=) | |
| MT | m.6182G= | CA2499564741 | MT-CO1 | c.279G= (p.Ala93=) | |
| MT | m.6182G>T | CA913181114 | MT-CO1 | c.279G>T (p.Ala93=) | |
| MT | m.6182_6185del | CA2573104824 | MT-CO1 | c.279_282del (p.Phe94ProfsTer3) | |
| MT | m.6183T>A | CA414782277 | MT-CO1 | c.280T>A (p.Phe94Ile) | |
| MT | m.6183T>C | CA414782271 | MT-CO1 | c.280T>C (p.Phe94Leu) | |
| MT | m.6183T>G | CA414782274 | MT-CO1 | c.280T>G (p.Phe94Val) | |
| MT | m.6183T= | CA2573324007 | MT-CO1 | c.280T= (p.Phe94=) | |
| MT | m.6184T>A | CA414782280 | MT-CO1 | c.281T>A (p.Phe94Tyr) | |
| MT | m.6184T>C | CA414782283 | MT-CO1 | c.281T>C (p.Phe94Ser) | |
| MT | m.6184T>G | CA414782286 | MT-CO1 | c.281T>G (p.Phe94Cys) | |
| MT | m.6184T= | CA2573324013 | MT-CO1 | c.281T= (p.Phe94=) | |
| MT | m.6185T>A | CA414782294 | MT-CO1 | c.282T>A (p.Phe94Leu) | |
| MT | m.6185T>C | CA337097339 | MT-CO1 | c.282T>C (p.Phe94=) | dbSNP |
| MT | m.6185T>G | CA414782290 | MT-CO1 | c.282T>G (p.Phe94Leu) | |
| MT | m.6185T= | CA2499564742 | MT-CO1 | c.282T= (p.Phe94=) | |
| MT | m.6186C>A | CA414782299 | MT-CO1 | c.283C>A (p.Pro95Thr) | |
| MT | m.6186C= | CA2573324017 | MT-CO1 | c.283C= (p.Pro95=) | |
| MT | m.6186C>G | CA414782301 | MT-CO1 | c.283C>G (p.Pro95Ala) | |
| MT | m.6186C>T | CA414782303 | MT-CO1 | c.283C>T (p.Pro95Ser) | |
| MT | m.6189dup | CA2740098133 | MT-CO1 | c.286dup (p.Arg96ProfsTer?) | |
| MT | m.6187C>A | CA414782306 | MT-CO1 | c.284C>A (p.Pro95His) |