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.7129_13991del | CA645373333 | ClinVar | ||
| MT | m.7343A= | CA2573327178 | MT-CO1 | c.1440A= (p.Arg480=) | |
| MT | m.7343A>C | CA913176949 | MT-CO1 | c.1440A>C (p.Arg480=) | |
| MT | m.7343A>G | CA913176951 | MT-CO1 | c.1440A>G (p.Arg480=) | |
| MT | m.7343A>T | CA913176947 | MT-CO1 | c.1440A>T (p.Arg480=) | |
| MT | m.7346dup | CA2573104844 | MT-CO1 | c.1443dup (p.Val482SerfsTer?) | |
| MT | m.7346del | CA2573104845 | MT-CO1 | c.1443del (p.Val482SerfsTer2) | |
| MT | m.7344A= | CA2573327179 | MT-CO1 | c.1441A= (p.Lys481=) | |
| MT | m.7344A>C | CA414792490 | MT-CO1 | c.1441A>C (p.Lys481Gln) | |
| MT | m.7344A>G | CA414792492 | MT-CO1 | c.1441A>G (p.Lys481Glu) | |
| MT | m.7344A>T | CA414792494 | MT-CO1 | c.1441A>T (p.Lys481Ter) | |
| MT | m.7345A= | CA2573327180 | MT-CO1 | c.1442A= (p.Lys481=) | |
| MT | m.7345A>C | CA414792499 | MT-CO1 | c.1442A>C (p.Lys481Thr) | |
| MT | m.7345A>G | CA414792497 | MT-CO1 | c.1442A>G (p.Lys481Arg) | |
| MT | m.7345A>T | CA414792496 | MT-CO1 | c.1442A>T (p.Lys481Ile) | |
| MT | m.7346A= | CA2573327183 | MT-CO1 | c.1443A= (p.Lys481=) | |
| MT | m.7346A>C | CA414792501 | MT-CO1 | c.1443A>C (p.Lys481Asn) | |
| MT | m.7346A>G | CA913176955 | MT-CO1 | c.1443A>G (p.Lys481=) | dbSNP |
| MT | m.7346A>T | CA414792503 | MT-CO1 | c.1443A>T (p.Lys481Asn) | |
| MT | m.7347G>A | CA414792505 | MT-CO1 | c.1444G>A (p.Val482Ile) | ClinVar dbSNP |
| MT | m.7347G>C | CA414792507 | MT-CO1 | c.1444G>C (p.Val482Leu) | |
| MT | m.7347G= | CA2499565127 | MT-CO1 | c.1444G= (p.Val482=) | |
| MT | m.7347G>T | CA414792509 | MT-CO1 | c.1444G>T (p.Val482Phe) | |
| MT | m.7348T>A | CA414792511 | MT-CO1 | c.1445T>A (p.Val482Asp) | |
| MT | m.7348T>C | CA414792512 | MT-CO1 | c.1445T>C (p.Val482Ala) | dbSNP |
| MT | m.7348T>G | CA414792514 | MT-CO1 | c.1445T>G (p.Val482Gly) | |
| MT | m.7348T= | CA2499565128 | MT-CO1 | c.1445T= (p.Val482=) | |
| MT | m.7349C>A | CA913176956 | MT-CO1 | c.1446C>A (p.Val482=) | dbSNP |
| MT | m.7349C= | CA2499565129 | MT-CO1 | c.1446C= (p.Val482=) | |
| MT | m.7349C>G | CA913176957 | MT-CO1 | c.1446C>G (p.Val482=) | |
| MT | m.7349C>T | CA913176958 | MT-CO1 | c.1446C>T (p.Val482=) | dbSNP |
| MT | m.7350C>A | CA414792516 | MT-CO1 | c.1447C>A (p.Leu483Ile) | |
| MT | m.7350C= | CA2573327191 | MT-CO1 | c.1447C= (p.Leu483=) | |
| MT | m.7350C>G | CA414792518 | MT-CO1 | c.1447C>G (p.Leu483Val) | |
| MT | m.7350C>T | CA913176959 | MT-CO1 | c.1447C>T (p.Leu483=) | |
| MT | m.7351T>A | CA414792520 | MT-CO1 | c.1448T>A (p.Leu483Gln) | |
| MT | m.7351T>C | CA414792522 | MT-CO1 | c.1448T>C (p.Leu483Pro) | |
| MT | m.7351T>G | CA414792524 | MT-CO1 | c.1448T>G (p.Leu483Arg) | |
| MT | m.7351T= | CA2573327194 | MT-CO1 | c.1448T= (p.Leu483=) | |
| MT | m.7352A= | CA2499565130 | MT-CO1 | c.1449A= (p.Leu483=) | |
| MT | m.7352A>C | CA913176962 | MT-CO1 | c.1449A>C (p.Leu483=) | |
| MT | m.7352A>G | CA913176961 | MT-CO1 | c.1449A>G (p.Leu483=) | dbSNP |
| MT | m.7352A>T | CA913176960 | MT-CO1 | c.1449A>T (p.Leu483=) | dbSNP |