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 |
|---|---|---|---|---|---|
| 3 | g.49022497G>A | CA2390217 | NDUFAF3 | c.229G>A (p.Gly77Ser) c.58G>A (p.Gly20Ser) n.253G>A n.385G>A | dbSNP ExAC gnomAD v2 |
| 3 | g.49022497G>C | CA114263 | NDUFAF3 | c.229G>C (p.Gly77Arg) c.58G>C (p.Gly20Arg) n.253G>C n.385G>C | ClinVar dbSNP |
| 3 | g.49022497G= | CA1363289013 | NDUFAF3 | c.229G= (p.Gly77=) c.58G= (p.Gly20=) n.253G= n.385G= | |
| 3 | g.49022497G>T | CA352728455 | NDUFAF3 | c.229G>T (p.Gly77Cys) c.58G>T (p.Gly20Cys) n.253G>T n.385G>T | gnomAD v4 |
| 3 | g.49022498G>A | CA352728457 | NDUFAF3 | c.230G>A (p.Gly77Asp) c.59G>A (p.Gly20Asp) n.254G>A n.386G>A | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.49022498G>C | CA352728460 | NDUFAF3 | c.230G>C (p.Gly77Ala) c.59G>C (p.Gly20Ala) n.254G>C n.386G>C | |
| 3 | g.49022498G= | CA1363289014 | NDUFAF3 | c.230G= (p.Gly77=) c.59G= (p.Gly20=) n.254G= n.386G= | |
| 3 | g.49022498G>T | CA352728466 | NDUFAF3 | c.230G>T (p.Gly77Val) c.59G>T (p.Gly20Val) n.254G>T n.386G>T | |
| 3 | g.49022499C>A | CA433629058 | NDUFAF3 | c.231C>A (p.Gly77=) c.60C>A (p.Gly20=) n.255C>A n.387C>A | gnomAD v4 |
| 3 | g.49022499C>G | CA433629059 | NDUFAF3 | c.231C>G (p.Gly77=) c.60C>G (p.Gly20=) n.255C>G n.387C>G | |
| 3 | g.49022499C>T | CA433629060 | NDUFAF3 | c.231C>T (p.Gly77=) c.60C>T (p.Gly20=) n.255C>T n.387C>T | |
| 3 | g.49022500C>A | CA352728469 | NDUFAF3 | c.232C>A (p.Pro78Thr) c.61C>A (p.Pro21Thr) n.256C>A n.388C>A | |
| 3 | g.49022500C>G | CA352728471 | NDUFAF3 | c.232C>G (p.Pro78Ala) c.61C>G (p.Pro21Ala) n.256C>G n.388C>G | ClinVar gnomAD v4 |
| 3 | g.49022500C>T | CA352728476 | NDUFAF3 | c.232C>T (p.Pro78Ser) c.61C>T (p.Pro21Ser) n.256C>T n.388C>T | |
| 3 | g.49022501C>A | CA352728480 | NDUFAF3 | c.233C>A (p.Pro78His) c.62C>A (p.Pro21His) n.257C>A n.389C>A | |
| 3 | g.49022501C= | CA1363289015 | NDUFAF3 | c.233C= (p.Pro78=) c.62C= (p.Pro21=) n.257C= n.389C= | |
| 3 | g.49022501C>G | CA74014910 | NDUFAF3 | c.233C>G (p.Pro78Arg) c.62C>G (p.Pro21Arg) n.257C>G n.389C>G | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.49022501C>T | CA352728484 | NDUFAF3 | c.233C>T (p.Pro78Leu) c.62C>T (p.Pro21Leu) n.257C>T n.389C>T | dbSNP |
| 3 | g.49022502C>A | CA433629063 | NDUFAF3 | c.234C>A (p.Pro78=) c.63C>A (p.Pro21=) n.258C>A n.390C>A | |
| 3 | g.49022502C= | CA1363289016 | NDUFAF3 | c.234C= (p.Pro78=) c.63C= (p.Pro21=) n.258C= n.390C= | |
| 3 | g.49022502C>G | CA433629062 | NDUFAF3 | c.234C>G (p.Pro78=) c.63C>G (p.Pro21=) n.258C>G n.390C>G | |
| 3 | g.49022502C>T | CA2390218 | NDUFAF3 | c.234C>T (p.Pro78=) c.63C>T (p.Pro21=) n.258C>T n.390C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.49022503T>A | CA352728510 | NDUFAF3 | c.235T>A (p.Cys79Ser) c.64T>A (p.Cys22Ser) n.259T>A n.391T>A | |
| 3 | g.49022503T>C | CA352728495 | NDUFAF3 | c.235T>C (p.Cys79Arg) c.64T>C (p.Cys22Arg) n.259T>C n.391T>C | |
| 3 | g.49022503T>G | CA352728499 | NDUFAF3 | c.235T>G (p.Cys79Gly) c.64T>G (p.Cys22Gly) n.259T>G n.391T>G | |
| 3 | g.49022504G>A | CA352728513 | NDUFAF3 | c.236G>A (p.Cys79Tyr) c.65G>A (p.Cys22Tyr) n.260G>A n.392G>A | |
| 3 | g.49022504G>C | CA352728515 | NDUFAF3 | c.236G>C (p.Cys79Ser) c.65G>C (p.Cys22Ser) n.260G>C n.392G>C | |
| 3 | g.49022504G>T | CA352728516 | NDUFAF3 | c.236G>T (p.Cys79Phe) c.65G>T (p.Cys22Phe) n.260G>T n.392G>T | |
| 3 | g.49022505C>A | CA352728519 | NDUFAF3 | c.237C>A (p.Cys79Ter) c.66C>A (p.Cys22Ter) n.261C>A n.393C>A | |
| 3 | g.49022505C>G | CA352728526 | NDUFAF3 | c.237C>G (p.Cys79Trp) c.66C>G (p.Cys22Trp) n.261C>G n.393C>G | |
| 3 | g.49022505C>T | CA433629067 | NDUFAF3 | c.237C>T (p.Cys79=) c.66C>T (p.Cys22=) n.261C>T n.393C>T | |
| 3 | g.49022506G>A | CA352728536 | NDUFAF3 | c.238G>A (p.Ala80Thr) c.67G>A (p.Ala23Thr) n.262G>A n.394G>A | |
| 3 | g.49022506G>C | CA352728531 | NDUFAF3 | c.238G>C (p.Ala80Pro) c.67G>C (p.Ala23Pro) n.262G>C n.394G>C | |
| 3 | g.49022506G>T | CA352728535 | NDUFAF3 | c.238G>T (p.Ala80Ser) c.67G>T (p.Ala23Ser) n.262G>T n.394G>T | gnomAD v4 |
| 3 | g.49022507C>A | CA352728542 | NDUFAF3 | c.239C>A (p.Ala80Asp) c.68C>A (p.Ala23Asp) n.263C>A n.395C>A | |
| 3 | g.49022507C= | CA1363289017 | NDUFAF3 | c.239C= (p.Ala80=) c.68C= (p.Ala23=) n.263C= n.395C= | |
| 3 | g.49022507C>G | CA352728545 | NDUFAF3 | c.239C>G (p.Ala80Gly) c.68C>G (p.Ala23Gly) n.263C>G n.395C>G | |
| 3 | g.49022507C>T | CA352728547 | NDUFAF3 | c.239C>T (p.Ala80Val) c.68C>T (p.Ala23Val) n.263C>T n.395C>T | dbSNP |
| 3 | g.49022508T>A | CA433629069 | NDUFAF3 | c.240T>A (p.Ala80=) c.69T>A (p.Ala23=) n.264T>A n.396T>A | |
| 3 | g.49022508T>C | CA433629071 | NDUFAF3 | c.240T>C (p.Ala80=) c.69T>C (p.Ala23=) n.264T>C n.396T>C | gnomAD v4 |
| 3 | g.49022508T>G | CA433629070 | NDUFAF3 | c.240T>G (p.Ala80=) c.69T>G (p.Ala23=) n.264T>G n.396T>G | |
| 3 | g.49022509C>A | CA352728554 | NDUFAF3 | c.241C>A (p.Leu81Met) c.70C>A (p.Leu24Met) n.265C>A n.397C>A | |
| 3 | g.49022509C= | CA1363289018 | NDUFAF3 | c.241C= (p.Leu81=) c.70C= (p.Leu24=) n.265C= n.397C= | |
| 3 | g.49022509C>G | CA352728557 | NDUFAF3 | c.241C>G (p.Leu81Val) c.70C>G (p.Leu24Val) n.265C>G n.397C>G | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49022509C>T | CA433629072 | NDUFAF3 | c.241C>T (p.Leu81=) c.70C>T (p.Leu24=) n.265C>T n.397C>T | gnomAD v4 |
| 3 | g.49022510T>A | CA352728558 | NDUFAF3 | c.242T>A (p.Leu81Gln) c.71T>A (p.Leu24Gln) n.266T>A n.398T>A | |
| 3 | g.49022510T>C | CA352728584 | NDUFAF3 | c.242T>C (p.Leu81Pro) c.71T>C (p.Leu24Pro) n.266T>C n.398T>C | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.49022510T>G | CA352728559 | NDUFAF3 | c.242T>G (p.Leu81Arg) c.71T>G (p.Leu24Arg) n.266T>G n.398T>G | |
| 3 | g.49022510T= | CA1363289019 | NDUFAF3 | c.242T= (p.Leu81=) c.71T= (p.Leu24=) n.266T= n.398T= | |
| 3 | g.49022511G>A | CA433629074 | NDUFAF3 | c.243G>A (p.Leu81=) c.72G>A (p.Leu24=) n.267G>A n.399G>A |