| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.74719067A>G | CA260036 | FA2H | c.707T>C (p.Phe236Ser) c.457T>C (p.Ser153Pro) c.509T>C (p.Phe170Ser) c.467T>C (p.Phe156Ser) | ClinVar dbSNP gnomAD v4 |
| 16 | g.74719067A= | CA2232953680 | FA2H | c.707T= (p.Phe236=) c.457T= (p.Ser153=) c.509T= (p.Phe170=) c.467T= (p.Phe156=) | dbSNP |