Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.68781882G>A | CA340854 | CPT1A | c.1241C>T (p.Ala414Val) c.1337C>T (p.Ala446Val) | ClinVar dbSNP gnomAD v4 |
11 | g.68781882G>C | CA381631653 | CPT1A | c.1241C>G (p.Ala414Gly) c.1337C>G (p.Ala446Gly) | dbSNP gnomAD v4 |
11 | g.68781882G= | CA2581028851 | CPT1A | c.1241C= (p.Ala414=) c.1337C= (p.Ala446=) | dbSNP |