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.3836C>A | CA414773618 | MT-ND1 | c.530C>A (p.Pro177Gln) | |
| MT | m.3836C= | CA2573328721 | MT-ND1 | c.530C= (p.Pro177=) | |
| MT | m.3836C>G | CA414773616 | MT-ND1 | c.530C>G (p.Pro177Arg) | |
| MT | m.3836C>T | CA414773617 | MT-ND1 | c.530C>T (p.Pro177Leu) | |
| MT | m.3837A= | CA2499563622 | MT-ND1 | c.531A= (p.Pro177=) | |
| MT | m.3837A>C | CA913175611 | MT-ND1 | c.531A>C (p.Pro177=) | |
| MT | m.3837A>G | CA913175612 | MT-ND1 | c.531A>G (p.Pro177=) | dbSNP |
| MT | m.3837A>T | CA913175613 | MT-ND1 | c.531A>T (p.Pro177=) | |
| MT | m.3838T>A | CA414773619 | MT-ND1 | c.532T>A (p.Ser178Thr) | |
| MT | m.3838T>C | CA414773620 | MT-ND1 | c.532T>C (p.Ser178Pro) | |
| MT | m.3838T>G | CA414773621 | MT-ND1 | c.532T>G (p.Ser178Ala) | |
| MT | m.3838T= | CA2573328723 | MT-ND1 | c.532T= (p.Ser178=) | |
| MT | m.3839C>A | CA414773622 | MT-ND1 | c.533C>A (p.Ser178Ter) | |
| MT | m.3839C= | CA2573328725 | MT-ND1 | c.533C= (p.Ser178=) | |
| MT | m.3839C>G | CA414773623 | MT-ND1 | c.533C>G (p.Ser178Ter) | |
| MT | m.3839C>T | CA414773624 | MT-ND1 | c.533C>T (p.Ser178Leu) | |
| MT | m.3840A= | CA2573328726 | MT-ND1 | c.534A= (p.Ser178=) | |
| MT | m.3840A>C | CA913175614 | MT-ND1 | c.534A>C (p.Ser178=) | |
| MT | m.3840A>G | CA913175615 | MT-ND1 | c.534A>G (p.Ser178=) | |
| MT | m.3840A>T | CA913175621 | MT-ND1 | c.534A>T (p.Ser178=) | |
| MT | m.3841T>A | CA414773625 | MT-ND1 | c.535T>A (p.Ter179Arg) | |
| MT | m.3841T>C | CA414773626 | MT-ND1 | c.535T>C (p.Ter179Arg) | |
| MT | m.3841T>G | CA414773627 | MT-ND1 | c.535T>G (p.Ter179Gly) | |
| MT | m.3841T= | CA414773628 | MT-ND1 | c.535T= (p.Ter179=) | |
| MT | m.3842G>A | CA414773631 | MT-ND1 | c.536G>A (p.Ter179=) | |
| MT | m.3842G>C | CA414773632 | MT-ND1 | c.536G>C (p.Ter179Ser) | |
| MT | m.3842G= | CA414773630 | MT-ND1 | c.536G= (p.Ter179=) | |
| MT | m.3842G>T | CA414773629 | MT-ND1 | c.536G>T (p.Ter179Leu) | |
| MT | m.3843A= | CA414773633 | MT-ND1 | c.537A= (p.Ter179=) | |
| MT | m.3843A>C | CA414773634 | MT-ND1 | c.537A>C (p.Ter179Cys) | |
| MT | m.3843A>G | CA10581249 | MT-ND1 | c.537A>G (p.Ter179Trp) | ClinVar dbSNP |
| MT | m.3843A>T | CA414773635 | MT-ND1 | c.537A>T (p.Ter179Cys) | |
| MT | m.3844C>A | CA414773638 | MT-ND1 | c.538C>A (p.Pro180Thr) | |
| MT | m.3844C= | CA2573328731 | MT-ND1 | c.538C= (p.Pro180=) | |
| MT | m.3844C>G | CA414773637 | MT-ND1 | c.538C>G (p.Pro180Ala) | |
| MT | m.3844C>T | CA414773636 | MT-ND1 | c.538C>T (p.Pro180Ser) | |
| MT | m.3845C>A | CA414773639 | MT-ND1 | c.539C>A (p.Pro180His) | |
| MT | m.3845C= | CA2573328732 | MT-ND1 | c.539C= (p.Pro180=) | |
| MT | m.3845C>G | CA414773640 | MT-ND1 | c.539C>G (p.Pro180Arg) | |
| MT | m.3845C>T | CA414773641 | MT-ND1 | c.539C>T (p.Pro180Leu) | |
| MT | m.3846C>A | CA913175650 | MT-ND1 | c.540C>A (p.Pro180=) | |
| MT | m.3846C= | CA2499563623 | MT-ND1 | c.540C= (p.Pro180=) | |
| MT | m.3846C>G | CA913175651 | MT-ND1 | c.540C>G (p.Pro180=) | |
| MT | m.3846C>T | CA913175653 | MT-ND1 | c.540C>T (p.Pro180=) | dbSNP |
| MT | m.3847T>A | CA414773642 | MT-ND1 | c.541T>A (p.Leu181Met) | |
| MT | m.3847T>C | CA337096699 | MT-ND1 | c.541T>C (p.Leu181=) | dbSNP |
| MT | m.3847T>G | CA414773643 | MT-ND1 | c.541T>G (p.Leu181Val) | |
| MT | m.3847T= | CA2499563624 | MT-ND1 | c.541T= (p.Leu181=) | |
| MT | m.3848T>A | CA414773646 | MT-ND1 | c.542T>A (p.Leu181Ter) | |
| MT | m.3848T>C | CA414773644 | MT-ND1 | c.542T>C (p.Leu181Ser) | dbSNP |