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.5500T>A | CA414780595 | MT-ND2 | c.1031T>A (p.Leu344Gln) | |
| MT | m.5500T>C | CA414780598 | MT-ND2 | c.1031T>C (p.Leu344Pro) | |
| MT | m.5500T>G | CA414780600 | MT-ND2 | c.1031T>G (p.Leu344Arg) | |
| MT | m.5500T= | CA2573331249 | MT-ND2 | c.1031T= (p.Leu344=) | |
| MT | m.5501A= | CA2499564343 | MT-ND2 | c.1032A= (p.Leu344=) | |
| MT | m.5501A>C | CA913179689 | MT-ND2 | c.1032A>C (p.Leu344=) | |
| MT | m.5501A>G | CA913179686 | MT-ND2 | c.1032A>G (p.Leu344=) | dbSNP |
| MT | m.5501A>T | CA913179685 | MT-ND2 | c.1032A>T (p.Leu344=) | |
| MT | m.5502A= | CA2499564344 | MT-ND2 | c.1033A= (p.Ile345=) | |
| MT | m.5502A>C | CA414780601 | MT-ND2 | c.1033A>C (p.Ile345Leu) | |
| MT | m.5502A>G | CA414780603 | MT-ND2 | c.1033A>G (p.Ile345Val) | dbSNP |
| MT | m.5502A>T | CA414780605 | MT-ND2 | c.1033A>T (p.Ile345Leu) | |
| MT | m.5503T>A | CA414780607 | MT-ND2 | c.1034T>A (p.Ile345Lys) | |
| MT | m.5503T>C | CA414780609 | MT-ND2 | c.1034T>C (p.Ile345Thr) | dbSNP |
| MT | m.5503T>G | CA414780611 | MT-ND2 | c.1034T>G (p.Ile345Arg) | |
| MT | m.5503T= | CA2499564345 | MT-ND2 | c.1034T= (p.Ile345=) | |
| MT | m.5504A= | CA2573331250 | MT-ND2 | c.1035A= (p.Ile345=) | |
| MT | m.5504A>C | CA913179692 | MT-ND2 | c.1035A>C (p.Ile345=) | |
| MT | m.5504A>G | CA414780613 | MT-ND2 | c.1035A>G (p.Ile345Met) | |
| MT | m.5504A>T | CA913179691 | MT-ND2 | c.1035A>T (p.Ile345=) | |
| MT | m.5505A= | CA2499564346 | MT-ND2 | c.1036A= (p.Ile346=) | |
| MT | m.5505A>C | CA414780617 | MT-ND2 | c.1036A>C (p.Ile346Leu) | |
| MT | m.5505A>G | CA414780619 | MT-ND2 | c.1036A>G (p.Ile346Val) | ClinVar dbSNP |
| MT | m.5505A>T | CA414780615 | MT-ND2 | c.1036A>T (p.Ile346Phe) | |
| MT | m.5506T>A | CA414780622 | MT-ND2 | c.1037T>A (p.Ile346Asn) | |
| MT | m.5506T>C | CA414780623 | MT-ND2 | c.1037T>C (p.Ile346Thr) | |
| MT | m.5506T>G | CA414780625 | MT-ND2 | c.1037T>G (p.Ile346Ser) | |
| MT | m.5506T= | CA2573331251 | MT-ND2 | c.1037T= (p.Ile346=) | |
| MT | m.5507C>A | CA913179697 | MT-ND2 | c.1038C>A (p.Ile346=) | |
| MT | m.5507C= | CA2499564347 | MT-ND2 | c.1038C= (p.Ile346=) | |
| MT | m.5507C>G | CA414780627 | MT-ND2 | c.1038C>G (p.Ile346Met) | |
| MT | m.5507C>T | CA337097162 | MT-ND2 | c.1038C>T (p.Ile346=) | dbSNP |
| MT | m.5508T>A | CA414780630 | MT-ND2 | c.1039T>A (p.Leu347Ile) | |
| MT | m.5508T>C | CA913179698 | MT-ND2 | c.1039T>C (p.Leu347=) | dbSNP |
| MT | m.5508T>G | CA414780632 | MT-ND2 | c.1039T>G (p.Leu347Val) | |
| MT | m.5508T= | CA2499564348 | MT-ND2 | c.1039T= (p.Leu347=) | |
| MT | m.5509T>A | CA414780634 | MT-ND2 | c.1040T>A (p.Leu347Ter) | |
| MT | m.5509T>C | CA414780637 | MT-ND2 | c.1040T>C (p.Leu347Ser) | dbSNP |
| MT | m.5509T>G | CA414780638 | MT-ND2 | c.1040T>G (p.Leu347Ter) | |
| MT | m.5509T= | CA2499564349 | MT-ND2 | c.1040T= (p.Leu347=) | |
| MT | m.5510A= | CA2499564350 | MT-ND2 | c.1041A= (p.Leu347=) | |
| MT | m.5510A>C | CA414780641 | MT-ND2 | c.1041A>C (p.Leu347Phe) | |
| MT | m.5510A>G | CA337097164 | MT-ND2 | c.1041A>G (p.Leu347=) | dbSNP |
| MT | m.5510A>T | CA414780643 | MT-ND2 | c.1041A>T (p.Leu347Phe) | |
| MT | m.5511T>A | CA913179699 | MT-ND2 | c.1042T>A | |
| MT | m.5511T>C | CA913179700 | MT-ND2 | c.1042T>C | |
| MT | m.5511T>G | CA913179703 | MT-ND2 | c.1042T>G | |
| MT | m.5511T= | CA2573331252 | MT-ND2 | c.1042T= | |
| MT | m.5512A= | CA2573331253 | |||
| MT | m.5512A>C | CA913179707 |