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.6830C>A | CA913181912 | MT-CO1 | c.927C>A (p.Thr309=) | dbSNP |
| MT | m.6830C= | CA2499564910 | MT-CO1 | c.927C= (p.Thr309=) | |
| MT | m.6830C>G | CA913181911 | MT-CO1 | c.927C>G (p.Thr309=) | |
| MT | m.6830C>T | CA913181910 | MT-CO1 | c.927C>T (p.Thr309=) | dbSNP |
| MT | m.6831A= | CA2573325891 | MT-CO1 | c.928A= (p.Ile310=) | |
| MT | m.6831A>C | CA414786651 | MT-CO1 | c.928A>C (p.Ile310Leu) | |
| MT | m.6831A>G | CA414786654 | MT-CO1 | c.928A>G (p.Ile310Val) | |
| MT | m.6831A>T | CA414786656 | MT-CO1 | c.928A>T (p.Ile310Leu) | |
| MT | m.6832T>A | CA414786660 | MT-CO1 | c.929T>A (p.Ile310Lys) | |
| MT | m.6832T>C | CA414786662 | MT-CO1 | c.929T>C (p.Ile310Thr) | |
| MT | m.6832T>G | CA414786664 | MT-CO1 | c.929T>G (p.Ile310Arg) | |
| MT | m.6832T= | CA2573325894 | MT-CO1 | c.929T= (p.Ile310=) | |
| MT | m.6833A= | CA2573325896 | MT-CO1 | c.930A= (p.Ile310=) | |
| MT | m.6833A>C | CA913181914 | MT-CO1 | c.930A>C (p.Ile310=) | |
| MT | m.6833A>G | CA414786668 | MT-CO1 | c.930A>G (p.Ile310Met) | |
| MT | m.6833A>T | CA913181913 | MT-CO1 | c.930A>T (p.Ile310=) | |
| MT | m.6834A= | CA2573325898 | MT-CO1 | c.931A= (p.Ile311=) | |
| MT | m.6834A>C | CA414786676 | MT-CO1 | c.931A>C (p.Ile311Leu) | |
| MT | m.6834A>G | CA414786673 | MT-CO1 | c.931A>G (p.Ile311Val) | |
| MT | m.6834A>T | CA414786671 | MT-CO1 | c.931A>T (p.Ile311Phe) | |
| MT | m.6835T>A | CA414786679 | MT-CO1 | c.932T>A (p.Ile311Asn) | |
| MT | m.6835T>C | CA414786682 | MT-CO1 | c.932T>C (p.Ile311Thr) | |
| MT | m.6835T>G | CA414786684 | MT-CO1 | c.932T>G (p.Ile311Ser) | |
| MT | m.6835T= | CA2573325902 | MT-CO1 | c.932T= (p.Ile311=) | |
| MT | m.6836C>A | CA913181919 | MT-CO1 | c.933C>A (p.Ile311=) | |
| MT | m.6836C= | CA2499564911 | MT-CO1 | c.933C= (p.Ile311=) | |
| MT | m.6836C>G | CA414786688 | MT-CO1 | c.933C>G (p.Ile311Met) | |
| MT | m.6836C>T | CA913181918 | MT-CO1 | c.933C>T (p.Ile311=) | dbSNP |
| MT | m.6837A= | CA2573325906 | MT-CO1 | c.934A= (p.Ile312=) | |
| MT | m.6837A>C | CA414786691 | MT-CO1 | c.934A>C (p.Ile312Leu) | |
| MT | m.6837A>G | CA414786694 | MT-CO1 | c.934A>G (p.Ile312Val) | |
| MT | m.6837A>T | CA414786697 | MT-CO1 | c.934A>T (p.Ile312Phe) | |
| MT | m.6838T>A | CA414786700 | MT-CO1 | c.935T>A (p.Ile312Asn) | |
| MT | m.6838T>C | CA414786703 | MT-CO1 | c.935T>C (p.Ile312Thr) | |
| MT | m.6838T>G | CA414786705 | MT-CO1 | c.935T>G (p.Ile312Ser) | |
| MT | m.6838T= | CA2573325909 | MT-CO1 | c.935T= (p.Ile312=) | |
| MT | m.6839C>A | CA913181921 | MT-CO1 | c.936C>A (p.Ile312=) | |
| MT | m.6839C= | CA2499564912 | MT-CO1 | c.936C= (p.Ile312=) | |
| MT | m.6839C>G | CA414786707 | MT-CO1 | c.936C>G (p.Ile312Met) | |
| MT | m.6839C>T | CA913181920 | MT-CO1 | c.936C>T (p.Ile312=) | dbSNP |
| MT | m.6840G>A | CA414786713 | MT-CO1 | c.937G>A (p.Ala313Thr) | |
| MT | m.6840G>C | CA414786715 | MT-CO1 | c.937G>C (p.Ala313Pro) | |
| MT | m.6840G= | CA2573325917 | MT-CO1 | c.937G= (p.Ala313=) |