| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.74774639G>T | CA052525 | FA2H | c.117C>A (p.Phe39Leu) | ClinVar dbSNP gnomAD v4 |
| 16 | g.74774639G>C | CA396768381 | FA2H | c.117C>G (p.Phe39Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.74774639G>A | CA496690869 | FA2H | c.117C>T (p.Phe39=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.74774639G= | CA2232982617 | FA2H | c.117C= (p.Phe39=) | dbSNP |