| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.74726273G>A | CA204774 | FA2H | c.565C>T (p.Arg189Ter) c.364-7113C>T (n.364-7113C>T) c.367C>T (p.Arg123Ter) c.325C>T (p.Arg109Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.74726273G>T | CA496547684 | FA2H | c.565C>A (p.Arg189=) c.364-7113C>A (n.364-7113C>A) c.367C>A (p.Arg123=) c.325C>A (p.Arg109=) | dbSNP gnomAD v4 |
| 16 | g.74726273G= | CA2232965498 | FA2H | c.565C= (p.Arg189=) c.364-7113C= (n.364-7113C=) c.367C= (p.Arg123=) c.325C= (p.Arg109=) | dbSNP |