Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.38144359G>A | CA120034 | STAR | c.772C>T (p.Gln258Ter) n.2741C>T c.614C>T c.678C>T (p.Thr226=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.38144359G>C | CA370696015 | STAR | c.772C>G (p.Gln258Glu) n.2741C>G c.614C>G c.678C>G (p.Thr226=) | dbSNP |
8 | g.38144359G= | CA1777409302 | STAR | c.772C= (p.Gln258=) n.2741C= c.614C= c.678C= (p.Thr226=) | dbSNP |