Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.68807622G>A | CA221859 | CPT1A | c.298C>T (p.Gln100Ter) c.394C>T (p.Gln132Ter) | ClinVar dbSNP |
11 | g.68807622G= | CA2581028875 | CPT1A | c.298C= (p.Gln100=) c.394C= (p.Gln132=) | dbSNP |
11 | g.68807622G>C | CA381636868 | CPT1A | c.298C>G (p.Gln100Glu) c.394C>G (p.Gln132Glu) | dbSNP gnomAD v4 |