| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.74727290G>A | CA259930 | FA2H | c.460C>T (p.Arg154Cys) c.364-8130C>T (n.364-8130C>T) c.262C>T (p.Arg88Cys) c.220C>T (p.Arg74Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.74727290G= | CA2232967452 | FA2H | c.460C= (p.Arg154=) c.364-8130C= (n.364-8130C=) c.262C= (p.Arg88=) c.220C= (p.Arg74=) | dbSNP |