| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.74774617C>G | CA396768339 | FA2H | c.139G>C (p.Glu47Gln) | dbSNP gnomAD v4 |
| 16 | g.74774617C>T | CA16043088 | FA2H | c.139G>A (p.Glu47Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.74774617C= | CA2232982602 | FA2H | c.139G= (p.Glu47=) | dbSNP |