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.5794_14876del | CA250414 | ClinVar | ||
| MT | m.6470_15588del | CA645373332 | 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.10950_15540del | CA2580102079 | ClinVar | ||
| MT | m.11263_15374del | CA645373341 | ClinVar | ||
| MT | m.12114_14420del | CA645373342 | ClinVar | ||
| MT | m.14182_14183del | CA2573105295 | MT-ND6 | c.496_497del (p.Ile166CysfsTer3) | |
| MT | m.14183A= | CA2573326609 | MT-ND6 | c.491T= (p.Val164=) | |
| MT | m.14183A>C | CA414821278 | MT-ND6 | c.491T>G (p.Val164Gly) | |
| MT | m.14183A>G | CA414821280 | MT-ND6 | c.491T>C (p.Val164Ala) | |
| MT | m.14183A>T | CA414821282 | MT-ND6 | c.491T>A (p.Val164Glu) | |
| MT | m.14185_14186dup | CA2740098381 | MT-ND6 | c.490_491dup (p.Val167LeufsTer2) | |
| MT | m.14184C>A | CA414821285 | MT-ND6 | c.490G>T (p.Val164Leu) | |
| MT | m.14184C= | CA2573326613 | MT-ND6 | c.490G= (p.Val164=) | |
| MT | m.14184C>G | CA414821287 | MT-ND6 | c.490G>C (p.Val164Leu) | |
| MT | m.14184C>T | CA414821288 | MT-ND6 | c.490G>A (p.Val164Ile) | |
| MT | m.14185A= | CA2499568362 | MT-ND6 | c.489T= (p.Gly163=) | |
| MT | m.14185A>C | CA913171480 | MT-ND6 | c.489T>G (p.Gly163=) | dbSNP |
| MT | m.14185A>G | CA913171482 | MT-ND6 | c.489T>C (p.Gly163=) | dbSNP |
| MT | m.14185A>T | CA913171481 | MT-ND6 | c.489T>A (p.Gly163=) | dbSNP |
| MT | m.14186C>A | CA414821290 | MT-ND6 | c.488G>T (p.Gly163Val) | dbSNP |
| MT | m.14186C= | CA2499568363 | MT-ND6 | c.488G= (p.Gly163=) | |
| MT | m.14186C>G | CA414821293 | MT-ND6 | c.488G>C (p.Gly163Ala) | |
| MT | m.14186C>T | CA414821294 | MT-ND6 | c.488G>A (p.Gly163Asp) | |
| MT | m.14187C>A | CA414821297 | MT-ND6 | c.487G>T (p.Gly163Cys) | |
| MT | m.14187C= | CA2499568364 | MT-ND6 | c.487G= (p.Gly163=) | |
| MT | m.14187C>G | CA414821299 | MT-ND6 | c.487G>C (p.Gly163Arg) | |
| MT | m.14187C>T | CA414821298 | MT-ND6 | c.487G>A (p.Gly163Ser) | dbSNP |
| MT | m.14188A= | CA2499568365 | MT-ND6 | c.486T= (p.Val162=) | |
| MT | m.14188A>C | CA913171485 | MT-ND6 | c.486T>G (p.Val162=) | |
| MT | m.14188A>G | CA913171483 | MT-ND6 | c.486T>C (p.Val162=) | dbSNP |
| MT | m.14188A>T | CA913171484 | MT-ND6 | c.486T>A (p.Val162=) | |
| MT | m.14189A= | CA2499568366 | MT-ND6 | c.485T= (p.Val162=) | |
| MT | m.14189A>C | CA414821303 | MT-ND6 | c.485T>G (p.Val162Gly) | |
| MT | m.14189A>G | CA414821305 | MT-ND6 | c.485T>C (p.Val162Ala) | ClinVar dbSNP |
| MT | m.14189A>T | CA414821307 | MT-ND6 | c.485T>A (p.Val162Asp) | |
| MT | m.14190C>A | CA414821309 | MT-ND6 | c.484G>T (p.Val162Phe) | |
| MT | m.14190C= | CA2573326624 | MT-ND6 | c.484G= (p.Val162=) | |
| MT | m.14190C>G | CA414821310 | MT-ND6 | c.484G>C (p.Val162Leu) | |
| MT | m.14190C>T | CA414821313 | MT-ND6 | c.484G>A (p.Val162Ile) | |
| MT | m.14191A= | CA2573326627 | MT-ND6 | c.483T= (p.Phe161=) | |
| MT | m.14191A>C | CA414821315 | MT-ND6 | c.483T>G (p.Phe161Leu) | |
| MT | m.14191A>G | CA913171486 | MT-ND6 | c.483T>C (p.Phe161=) | |
| MT | m.14191A>T | CA414821316 | MT-ND6 | c.483T>A (p.Phe161Leu) | |
| MT | m.14192A= | CA2573326629 | MT-ND6 | c.482T= (p.Phe161=) | |
| MT | m.14192A>C | CA414821320 | MT-ND6 | c.482T>G (p.Phe161Cys) |