| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.14824929G>A | CA115305 | FREM1 | c.1945C>T (p.Arg649Trp) n.2731C>T c.1972C>T (p.Arg658Trp) c.1564C>T (p.Arg522Trp) c.1048C>T (p.Arg350Trp) n.2758C>T n.2761C>T n.2705C>T | ClinVar dbSNP gnomAD v4 |
| 9 | g.14824929G= | CA1835213075 | FREM1 | c.1945C= (p.Arg649=) n.2731C= c.1972C= (p.Arg658=) c.1564C= (p.Arg522=) c.1048C= (p.Arg350=) n.2758C= n.2761C= n.2705C= | dbSNP |