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.4517C>A | CA913178342 | MT-ND2 | c.48C>A (p.Gly16=) | |
| MT | m.4517C= | CA2499563907 | MT-ND2 | c.48C= (p.Gly16=) | |
| MT | m.4517C>G | CA913178343 | MT-ND2 | c.48C>G (p.Gly16=) | |
| MT | m.4517C>T | CA913178341 | MT-ND2 | c.48C>T (p.Gly16=) | dbSNP |
| MT | m.4518A= | CA2573329982 | MT-ND2 | c.49A= (p.Thr17=) | |
| MT | m.4518A>C | CA414774642 | MT-ND2 | c.49A>C (p.Thr17Pro) | |
| MT | m.4518A>G | CA414774643 | MT-ND2 | c.49A>G (p.Thr17Ala) | |
| MT | m.4518A>T | CA414774644 | MT-ND2 | c.49A>T (p.Thr17Ser) | |
| MT | m.4519C>A | CA414774646 | MT-ND2 | c.50C>A (p.Thr17Lys) | |
| MT | m.4519C= | CA2573329983 | MT-ND2 | c.50C= (p.Thr17=) | |
| MT | m.4519C>G | CA414774647 | MT-ND2 | c.50C>G (p.Thr17Arg) | |
| MT | m.4519C>T | CA414774645 | MT-ND2 | c.50C>T (p.Thr17Ile) | |
| MT | m.4520A= | CA2573329984 | MT-ND2 | c.51A= (p.Thr17=) | |
| MT | m.4520A>C | CA913178350 | MT-ND2 | c.51A>C (p.Thr17=) | |
| MT | m.4520A>G | CA913178348 | MT-ND2 | c.51A>G (p.Thr17=) | |
| MT | m.4520A>T | CA913178349 | MT-ND2 | c.51A>T (p.Thr17=) | |
| MT | m.4521C>A | CA414774649 | MT-ND2 | c.52C>A (p.Leu18Ile) | |
| MT | m.4521C= | CA2573329985 | MT-ND2 | c.52C= (p.Leu18=) | |
| MT | m.4521C>G | CA414774648 | MT-ND2 | c.52C>G (p.Leu18Val) | |
| MT | m.4521C>T | CA414774650 | MT-ND2 | c.52C>T (p.Leu18Phe) | |
| MT | m.4522T>A | CA414774651 | MT-ND2 | c.53T>A (p.Leu18His) | |
| MT | m.4522T>C | CA414774652 | MT-ND2 | c.53T>C (p.Leu18Pro) | |
| MT | m.4522T>G | CA414774653 | MT-ND2 | c.53T>G (p.Leu18Arg) | |
| MT | m.4522T= | CA2573329986 | MT-ND2 | c.53T= (p.Leu18=) | |
| MT | m.4523C>A | CA913178353 | MT-ND2 | c.54C>A (p.Leu18=) | |
| MT | m.4523C= | CA2573329987 | MT-ND2 | c.54C= (p.Leu18=) | |
| MT | m.4523C>G | CA913178354 | MT-ND2 | c.54C>G (p.Leu18=) | |
| MT | m.4523C>T | CA913178355 | MT-ND2 | c.54C>T (p.Leu18=) | |
| MT | m.4524A= | CA2573329989 | MT-ND2 | c.55A= (p.Ile19=) | |
| MT | m.4524A>C | CA414774654 | MT-ND2 | c.55A>C (p.Ile19Leu) | |
| MT | m.4524A>G | CA414774655 | MT-ND2 | c.55A>G (p.Ile19Val) | |
| MT | m.4524A>T | CA414774656 | MT-ND2 | c.55A>T (p.Ile19Phe) | |
| MT | m.4525T>A | CA414774657 | MT-ND2 | c.56T>A (p.Ile19Asn) | |
| MT | m.4525T>C | CA414774658 | MT-ND2 | c.56T>C (p.Ile19Thr) | |
| MT | m.4525T>G | CA414774659 | MT-ND2 | c.56T>G (p.Ile19Ser) | |
| MT | m.4525T= | CA2573329991 | MT-ND2 | c.56T= (p.Ile19=) | |
| MT | m.4526C>A | CA913178360 | MT-ND2 | c.57C>A (p.Ile19=) | |
| MT | m.4526C= | CA2573329994 | MT-ND2 | c.57C= (p.Ile19=) | |
| MT | m.4526C>G | CA414774660 | MT-ND2 | c.57C>G (p.Ile19Met) | |
| MT | m.4526C>T | CA913178361 | MT-ND2 | c.57C>T (p.Ile19=) | |
| MT | m.4527A= | CA2573329995 | MT-ND2 | c.58A= (p.Thr20=) | |
| MT | m.4527A>C | CA414774663 | MT-ND2 | c.58A>C (p.Thr20Pro) | |
| MT | m.4527A>G | CA414774662 | MT-ND2 | c.58A>G (p.Thr20Ala) | |
| MT | m.4527A>T | CA414774661 | MT-ND2 | c.58A>T (p.Thr20Ser) | |
| MT | m.4528C>A | CA414774664 | MT-ND2 | c.59C>A (p.Thr20Lys) | |
| MT | m.4528C= | CA2573329997 | MT-ND2 | c.59C= (p.Thr20=) | |
| MT | m.4528C>G | CA414774665 | MT-ND2 | c.59C>G (p.Thr20Arg) | |
| MT | m.4528C>T | CA414774666 | MT-ND2 | c.59C>T (p.Thr20Ile) | |
| MT | m.4529A= | CA2499563908 | MT-ND2 | c.60A= (p.Thr20=) | |
| MT | m.4529A>C | CA913178362 | MT-ND2 | c.60A>C (p.Thr20=) |