Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.68794860C>T | CA303058 | CPT1A | c.823G>A (p.Ala275Thr) c.79G>A (p.Ala27Thr) c.919G>A (p.Ala307Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68794860C>G | CA223386118 | CPT1A | c.823G>C (p.Ala275Pro) c.79G>C (p.Ala27Pro) c.919G>C (p.Ala307Pro) | dbSNP |
11 | g.68794860C= | CA2497029805 | CPT1A | c.823G= (p.Ala275=) c.79G= (p.Ala27=) c.919G= (p.Ala307=) | dbSNP |