Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.68807553G>A | CA221862 | CPT1A | c.367C>T (p.Arg123Cys) c.463C>T (p.Arg155Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.68807553G>C | CA381636724 | CPT1A | c.367C>G (p.Arg123Gly) c.463C>G (p.Arg155Gly) | dbSNP |
11 | g.68807553G= | CA3182674350 | CPT1A | c.367C= (p.Arg123=) c.463C= (p.Arg155=) | dbSNP |