Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.27373181_27373182del | CA1160469873 | FCN3 | n.347_348del c.348_349del (p.Leu117ProfsTer5) c.315_316del (p.Leu106ProfsTer5) n.498_499del | dbSNP |
1 | g.27373182del | CA117374 | FCN3 | n.348del c.349del (p.Leu117SerfsTer?) c.316del (p.Leu106SerfsTer?) n.499del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.27373182dup | CA1160469874 | FCN3 | n.348dup c.349dup (p.Leu117ProfsTer6) c.316dup (p.Leu106ProfsTer6) n.499dup | dbSNP |