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.4617C>A | CA414774976 | MT-ND2 | c.148C>A (p.Pro50Thr) | |
| MT | m.4617C= | CA2573330083 | MT-ND2 | c.148C= (p.Pro50=) | |
| MT | m.4617C>G | CA414774978 | MT-ND2 | c.148C>G (p.Pro50Ala) | |
| MT | m.4617C>T | CA414774979 | MT-ND2 | c.148C>T (p.Pro50Ser) | |
| MT | m.4618C>A | CA414774986 | MT-ND2 | c.149C>A (p.Pro50His) | |
| MT | m.4618C= | CA2573330085 | MT-ND2 | c.149C= (p.Pro50=) | |
| MT | m.4618C>G | CA414774984 | MT-ND2 | c.149C>G (p.Pro50Arg) | |
| MT | m.4618C>T | CA414774982 | MT-ND2 | c.149C>T (p.Pro50Leu) | |
| MT | m.4620_4634del | CA2740098106 | MT-ND2 | c.151_165del (p.Arg51_Ala55del) | |
| MT | m.4619T>A | CA913178490 | MT-ND2 | c.150T>A (p.Pro50=) | |
| MT | m.4619T>C | CA913178492 | MT-ND2 | c.150T>C (p.Pro50=) | dbSNP |
| MT | m.4619T>G | CA913178491 | MT-ND2 | c.150T>G (p.Pro50=) | |
| MT | m.4619T= | CA2499563940 | MT-ND2 | c.150T= (p.Pro50=) | |
| MT | m.4620C>A | CA414774989 | MT-ND2 | c.151C>A (p.Arg51Ser) | |
| MT | m.4620C= | CA2573330086 | MT-ND2 | c.151C= (p.Arg51=) | |
| MT | m.4620C>G | CA414774990 | MT-ND2 | c.151C>G (p.Arg51Gly) | |
| MT | m.4620C>T | CA414774992 | MT-ND2 | c.151C>T (p.Arg51Cys) | |
| MT | m.4621G>A | CA414774995 | MT-ND2 | c.152G>A (p.Arg51His) | |
| MT | m.4621G>C | CA414774997 | MT-ND2 | c.152G>C (p.Arg51Pro) | |
| MT | m.4621G= | CA2573330087 | MT-ND2 | c.152G= (p.Arg51=) | |
| MT | m.4621G>T | CA414774999 | MT-ND2 | c.152G>T (p.Arg51Leu) | |
| MT | m.4622T>A | CA913178494 | MT-ND2 | c.153T>A (p.Arg51=) | |
| MT | m.4622T>C | CA913178495 | MT-ND2 | c.153T>C (p.Arg51=) | dbSNP |
| MT | m.4622T>G | CA913178496 | MT-ND2 | c.153T>G (p.Arg51=) | |
| MT | m.4622T= | CA2499563941 | MT-ND2 | c.153T= (p.Arg51=) | |
| MT | m.4623T>A | CA414775006 | MT-ND2 | c.154T>A (p.Ser52Thr) | |
| MT | m.4623T>C | CA414775004 | MT-ND2 | c.154T>C (p.Ser52Pro) | |
| MT | m.4623T>G | CA414775002 | MT-ND2 | c.154T>G (p.Ser52Ala) | |
| MT | m.4623T= | CA2573330088 | MT-ND2 | c.154T= (p.Ser52=) | |
| MT | m.4624C>A | CA414775009 | MT-ND2 | c.155C>A (p.Ser52Tyr) | |
| MT | m.4624C= | CA2573330089 | MT-ND2 | c.155C= (p.Ser52=) | |
| MT | m.4624C>G | CA414775011 | MT-ND2 | c.155C>G (p.Ser52Cys) | |
| MT | m.4624C>T | CA414775012 | MT-ND2 | c.155C>T (p.Ser52Phe) | |
| MT | m.4625C>A | CA913178500 | MT-ND2 | c.156C>A (p.Ser52=) | |
| MT | m.4625C= | CA2499563942 | MT-ND2 | c.156C= (p.Ser52=) | |
| MT | m.4625C>G | CA913178501 | MT-ND2 | c.156C>G (p.Ser52=) | |
| MT | m.4625C>T | CA913178502 | MT-ND2 | c.156C>T (p.Ser52=) | dbSNP |
| MT | m.4626A= | CA2499563943 | MT-ND2 | c.157A= (p.Thr53=) | |
| MT | m.4626A>C | CA414775015 | MT-ND2 | c.157A>C (p.Thr53Pro) | |
| MT | m.4626A>G | CA414775017 | MT-ND2 | c.157A>G (p.Thr53Ala) | dbSNP |
| MT | m.4626A>T | CA414775018 | MT-ND2 | c.157A>T (p.Thr53Ser) | |
| MT | m.4627C>A | CA414775021 | MT-ND2 | c.158C>A (p.Thr53Lys) | |
| MT | m.4627C= | CA2573330090 | MT-ND2 | c.158C= (p.Thr53=) | |
| MT | m.4627C>G | CA414775025 | MT-ND2 | c.158C>G (p.Thr53Arg) | |
| MT | m.4627C>T | CA414775023 | MT-ND2 | c.158C>T (p.Thr53Ile) | dbSNP |
| MT | m.4628A= | CA2573330091 | MT-ND2 | c.159A= (p.Thr53=) | |
| MT | m.4628A>C | CA913178503 | MT-ND2 | c.159A>C (p.Thr53=) | |
| MT | m.4628A>G | CA913178504 | MT-ND2 | c.159A>G (p.Thr53=) | dbSNP |
| MT | m.4628A>T | CA913178505 | MT-ND2 | c.159A>T (p.Thr53=) | |
| MT | m.4629G>A | CA414775027 | MT-ND2 | c.160G>A (p.Glu54Lys) |