| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.241517310G>A | CA324825 | FH | n.642C>T c.168C>T (p.Ala56=) n.216C>T c.139C>T (p.Gln47Ter) n.252C>T c.-90C>T (n.-90C>T) | ClinVar dbSNP |
| 1 | g.241517310G= | CA1229584142 | FH | n.642C= c.168C= (p.Ala56=) n.216C= c.139C= (p.Gln47=) n.252C= c.-90C= (n.-90C=) | dbSNP |