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.4620_4634del | CA2740098106 | MT-ND2 | c.151_165del (p.Arg51_Ala55del) | |
| 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) | |
| MT | m.4629G>C | CA414775029 | MT-ND2 | c.160G>C (p.Glu54Gln) | |
| MT | m.4629G= | CA2573330093 | MT-ND2 | c.160G= (p.Glu54=) | |
| MT | m.4629G>T | CA414775031 | MT-ND2 | c.160G>T (p.Glu54Ter) | |
| MT | m.4630A= | CA2573330094 | MT-ND2 | c.161A= (p.Glu54=) | |
| MT | m.4630A>C | CA414775034 | MT-ND2 | c.161A>C (p.Glu54Ala) | |
| MT | m.4630A>G | CA414775036 | MT-ND2 | c.161A>G (p.Glu54Gly) | |
| MT | m.4630A>T | CA414775038 | MT-ND2 | c.161A>T (p.Glu54Val) | |
| MT | m.4631A= | CA2573330095 | MT-ND2 | c.162A= (p.Glu54=) | |
| MT | m.4631A>C | CA414775041 | MT-ND2 | c.162A>C (p.Glu54Asp) | |
| MT | m.4631A>G | CA913178508 | MT-ND2 | c.162A>G (p.Glu54=) | |
| MT | m.4631A>T | CA414775043 | MT-ND2 | c.162A>T (p.Glu54Asp) | |
| MT | m.4632G>A | CA414775046 | MT-ND2 | c.163G>A (p.Ala55Thr) | ClinVar dbSNP |
| MT | m.4632G>C | CA414775048 | MT-ND2 | c.163G>C (p.Ala55Pro) | |
| MT | m.4632G= | CA2499563944 | MT-ND2 | c.163G= (p.Ala55=) | |
| MT | m.4632G>T | CA414775050 | MT-ND2 | c.163G>T (p.Ala55Ser) | |
| MT | m.4633C>A | CA414775053 | MT-ND2 | c.164C>A (p.Ala55Asp) | |
| MT | m.4633C= | CA2513013731 | MT-ND2 | c.164C= (p.Ala55=) | |
| MT | m.4633C>G | CA414775057 | MT-ND2 | c.164C>G (p.Ala55Gly) | |
| MT | m.4633C>T | CA414775056 | MT-ND2 | c.164C>T (p.Ala55Val) | |
| MT | m.4633_4634del | CA2740098107 | MT-ND2 | c.164_165del (p.Ala55GlyfsTer?) | |
| MT | m.4634T>A | CA913178511 | MT-ND2 | c.165T>A (p.Ala55=) | |
| MT | m.4634T>C | CA337096921 | MT-ND2 | c.165T>C (p.Ala55=) | dbSNP |
| MT | m.4634T>G | CA913178510 | MT-ND2 | c.165T>G (p.Ala55=) | |
| MT | m.4634T= | CA2499563945 | MT-ND2 | c.165T= (p.Ala55=) |