Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.160634683G>A | CA1200615 | SLAMF1 | c.630C>T (p.Thr210=) c.369+2554C>T (n.369+2554C>T) n.996C>T n.991C>T c.213C>T (p.Thr71=) n.729C>T n.724C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.160634683G= | CA1139775905 | SLAMF1 | c.630C= (p.Thr210=) c.369+2554C= (n.369+2554C=) n.996C= n.991C= c.213C= (p.Thr71=) n.729C= n.724C= | dbSNP |