| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.53213501A>C | CA254608 | CPT2 | c.1883A>C (p.Tyr628Ser) c.1850A>C (p.Tyr617Ser) c.*1869A>C (n.*1869A>C) c.*1530A>C (n.*1530A>C) c.1814A>C (p.Tyr605Ser) c.*136A>C (n.*136A>C) c.578A>C (p.Tyr193Ser) c.1919A>C (p.Tyr640Ser) | ClinVar dbSNP |
| 1 | g.53213501A= | CA1140495626 | CPT2 | c.1883A= (p.Tyr628=) c.1850A= (p.Tyr617=) c.*1869A= (n.*1869A=) c.*1530A= (n.*1530A=) c.1814A= (p.Tyr605=) c.*136A= (n.*136A=) c.578A= (p.Tyr193=) c.1919A= (p.Tyr640=) | dbSNP |
| 1 | g.53213501A>G | CA340397854 | CPT2 | c.1883A>G (p.Tyr628Cys) c.1850A>G (p.Tyr617Cys) c.*1869A>G (n.*1869A>G) c.*1530A>G (n.*1530A>G) c.1814A>G (p.Tyr605Cys) c.*136A>G (n.*136A>G) c.578A>G (p.Tyr193Cys) c.1919A>G (p.Tyr640Cys) | dbSNP gnomAD v4 |