| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.74726321G>A | CA279015 | FA2H | c.517C>T (p.Pro173Ser) c.364-7161C>T (n.364-7161C>T) c.319C>T (p.Pro107Ser) c.277C>T (p.Pro93Ser) | ClinVar dbSNP |
| 16 | g.74726321G= | CA2232965638 | FA2H | c.517C= (p.Pro173=) c.364-7161C= (n.364-7161C=) c.319C= (p.Pro107=) c.277C= (p.Pro93=) | dbSNP |