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.5460_5488del | CA2740098124 | MT-ND2 | c.991_1019del (p.Ala331ProfsTer?) | |
| MT | m.5468C>A | CA913179645 | MT-ND2 | c.999C>A (p.Thr333=) | |
| MT | m.5468C= | CA2573331232 | MT-ND2 | c.999C= (p.Thr333=) | |
| MT | m.5468C>G | CA913179647 | MT-ND2 | c.999C>G (p.Thr333=) | |
| MT | m.5468C>T | CA913179646 | MT-ND2 | c.999C>T (p.Thr333=) | |
| MT | m.5469A= | CA2573331233 | MT-ND2 | c.1000A= (p.Thr334=) | |
| MT | m.5469A>C | CA414780471 | MT-ND2 | c.1000A>C (p.Thr334Pro) | |
| MT | m.5469A>G | CA414780473 | MT-ND2 | c.1000A>G (p.Thr334Ala) | |
| MT | m.5469A>T | CA414780475 | MT-ND2 | c.1000A>T (p.Thr334Ser) | |
| MT | m.5470C>A | CA414780477 | MT-ND2 | c.1001C>A (p.Thr334Lys) | |
| MT | m.5470C= | CA2573331234 | MT-ND2 | c.1001C= (p.Thr334=) | |
| MT | m.5470C>G | CA414780479 | MT-ND2 | c.1001C>G (p.Thr334Arg) | |
| MT | m.5470C>T | CA414780481 | MT-ND2 | c.1001C>T (p.Thr334Met) | |
| MT | m.5471G>A | CA337097152 | MT-ND2 | c.1002G>A (p.Thr334=) | dbSNP |
| MT | m.5471G>C | CA913179652 | MT-ND2 | c.1002G>C (p.Thr334=) | dbSNP |
| MT | m.5471G= | CA2499564330 | MT-ND2 | c.1002G= (p.Thr334=) | |
| MT | m.5471G>T | CA913179651 | MT-ND2 | c.1002G>T (p.Thr334=) | |
| MT | m.5472C>A | CA414780484 | MT-ND2 | c.1003C>A (p.Leu335Ile) | |
| MT | m.5472C= | CA2573331235 | MT-ND2 | c.1003C= (p.Leu335=) | |
| MT | m.5472C>G | CA414780486 | MT-ND2 | c.1003C>G (p.Leu335Val) | |
| MT | m.5472C>T | CA913179653 | MT-ND2 | c.1003C>T (p.Leu335=) | |
| MT | m.5473T>A | CA414780490 | MT-ND2 | c.1004T>A (p.Leu335Gln) | |
| MT | m.5473T>C | CA414780492 | MT-ND2 | c.1004T>C (p.Leu335Pro) | |
| MT | m.5473T>G | CA414780489 | MT-ND2 | c.1004T>G (p.Leu335Arg) | |
| MT | m.5473T= | CA2573331236 | MT-ND2 | c.1004T= (p.Leu335=) | |
| MT | m.5474A= | CA2499564331 | MT-ND2 | c.1005A= (p.Leu335=) | |
| MT | m.5474A>C | CA913179657 | MT-ND2 | c.1005A>C (p.Leu335=) | |
| MT | m.5474A>G | CA913179655 | MT-ND2 | c.1005A>G (p.Leu335=) | dbSNP |
| MT | m.5474A>T | CA913179654 | MT-ND2 | c.1005A>T (p.Leu335=) | |
| MT | m.5475C>A | CA414780495 | MT-ND2 | c.1006C>A (p.Leu336Ile) | |
| MT | m.5475C= | CA2573331237 | MT-ND2 | c.1006C= (p.Leu336=) | |
| MT | m.5475C>G | CA414780496 | MT-ND2 | c.1006C>G (p.Leu336Val) | |
| MT | m.5475C>T | CA414780497 | MT-ND2 | c.1006C>T (p.Leu336Phe) | |
| MT | m.5476T>A | CA414780500 | MT-ND2 | c.1007T>A (p.Leu336His) | |
| MT | m.5476T>C | CA414780502 | MT-ND2 | c.1007T>C (p.Leu336Pro) | |
| MT | m.5476T>G | CA414780503 | MT-ND2 | c.1007T>G (p.Leu336Arg) | |
| MT | m.5476T= | CA2573331238 | MT-ND2 | c.1007T= (p.Leu336=) | |
| MT | m.5477C>A | CA913179660 | MT-ND2 | c.1008C>A (p.Leu336=) | |
| MT | m.5477C= | CA2573331239 | MT-ND2 | c.1008C= (p.Leu336=) | |
| MT | m.5477C>G | CA913179661 | MT-ND2 | c.1008C>G (p.Leu336=) | |
| MT | m.5477C>T | CA913179659 | MT-ND2 | c.1008C>T (p.Leu336=) | |
| MT | m.5478C>A | CA414780506 | MT-ND2 | c.1009C>A (p.Leu337Ile) | |
| MT | m.5478C= | CA2499564332 | MT-ND2 | c.1009C= (p.Leu337=) | |
| MT | m.5478C>G | CA414780507 | MT-ND2 | c.1009C>G (p.Leu337Val) | |
| MT | m.5478C>T | CA913179663 | MT-ND2 | c.1009C>T (p.Leu337=) | dbSNP |
| MT | m.5479T>A | CA414780509 | MT-ND2 | c.1010T>A (p.Leu337Gln) | |
| MT | m.5479T>C | CA414780511 | MT-ND2 | c.1010T>C (p.Leu337Pro) | |
| MT | m.5479T>G | CA414780513 | MT-ND2 | c.1010T>G (p.Leu337Arg) | |
| MT | m.5479T= | CA2573331240 | MT-ND2 | c.1010T= (p.Leu337=) | |
| MT | m.5480A= | CA2499564333 | MT-ND2 | c.1011A= (p.Leu337=) |