| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.53213509C>T | CA254604 | CPT2 | c.1891C>T (p.Arg631Cys) c.1858C>T (p.Arg620Cys) c.*1877C>T (n.*1877C>T) c.*1538C>T (n.*1538C>T) c.1822C>T (p.Arg608Cys) c.*144C>T (n.*144C>T) c.586C>T (p.Arg196Cys) c.1927C>T (p.Arg643Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.53213509C>G | CA340397868 | CPT2 | c.1891C>G (p.Arg631Gly) c.1858C>G (p.Arg620Gly) c.*1877C>G (n.*1877C>G) c.*1538C>G (n.*1538C>G) c.1822C>G (p.Arg608Gly) c.*144C>G (n.*144C>G) c.586C>G (p.Arg196Gly) c.1927C>G (p.Arg643Gly) | dbSNP gnomAD v4 |
| 1 | g.53213509C= | CA1140886541 | CPT2 | c.1891C= (p.Arg631=) c.1858C= (p.Arg620=) c.*1877C= (n.*1877C=) c.*1538C= (n.*1538C=) c.1822C= (p.Arg608=) c.*144C= (n.*144C=) c.586C= (p.Arg196=) c.1927C= (p.Arg643=) | dbSNP |