Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.38144382C>T | CA120037 | STAR | c.749G>A (p.Trp250Ter) n.2718G>A c.591G>A c.655G>A (p.Gly219Ser) | ClinVar dbSNP gnomAD v4 |
8 | g.38144382C= | CA1777409325 | STAR | c.749G= (p.Trp250=) n.2718G= c.591G= c.655G= (p.Gly219=) | dbSNP |
8 | g.38144382C>G | CA370696256 | STAR | c.749G>C (p.Trp250Ser) n.2718G>C c.591G>C c.655G>C (p.Gly219Arg) | dbSNP gnomAD v4 |