| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.45979728G>A | CA2353544 | FYCO1 | c.265C>T (p.Arg89Cys) n.480C>T c.145C>T (p.Arg49Cys) c.-62+5128C>T (n.-62+5128C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.45979728G= | CA1361909893 | FYCO1 | c.265C= (p.Arg89=) n.480C= c.145C= (p.Arg49=) c.-62+5128C= (n.-62+5128C=) | dbSNP |