Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.1478415T>A | CA9728172 | SIRPB2 | c.644A>T (p.Glu215Val) n.374A>T c.350A>T (p.Glu117Val) n.476A>T c.503A>T (p.Glu168Val) c.230A>T (p.Glu77Val) c.203A>T (p.Glu68Val) n.691A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.1478415T>G | CA9728171 | SIRPB2 | c.644A>C (p.Glu215Ala) n.374A>C c.350A>C (p.Glu117Ala) n.476A>C c.503A>C (p.Glu168Ala) c.230A>C (p.Glu77Ala) c.203A>C (p.Glu68Ala) n.691A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.1478415T>C | CA9728173 | SIRPB2 | c.644A>G (p.Glu215Gly) n.374A>G c.350A>G (p.Glu117Gly) n.476A>G c.503A>G (p.Glu168Gly) c.230A>G (p.Glu77Gly) c.203A>G (p.Glu68Gly) n.691A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |