| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.45967128G>A | CA214977 | FYCO1 | c.2206C>T (p.Gln736Ter) n.2421C>T c.2086C>T (p.Gln696Ter) c.2062C>T (p.Gln688Ter) c.1606C>T (p.Gln536Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.45967128G= | CA1361904643 | FYCO1 | c.2206C= (p.Gln736=) n.2421C= c.2086C= (p.Gln696=) c.2062C= (p.Gln688=) c.1606C= (p.Gln536=) | dbSNP |