| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.119735432G>A | CA116480 | PHGDH | c.781G>A (p.Val261Met) n.601G>A c.*434G>A (n.*434G>A) c.715G>A (p.Val239Met) n.766G>A c.*617G>A (n.*617G>A) c.*525G>A (n.*525G>A) c.537G>A c.*607G>A (n.*607G>A) n.721G>A n.903G>A c.679G>A (p.Val227Met) c.1003G>A (p.Val335Met) c.925G>A (p.Val309Met) c.892G>A (p.Val298Met) c.718G>A (p.Val240Met) c.496G>A (p.Val166Met) c.487G>A (p.Val163Met) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 1 | g.119735432G= | CA1143538241 | PHGDH | c.781G= (p.Val261=) n.601G= c.*434G= (n.*434G=) c.715G= (p.Val239=) n.766G= c.*617G= (n.*617G=) c.*525G= (n.*525G=) c.537G= c.*607G= (n.*607G=) n.721G= n.903G= c.679G= (p.Val227=) c.1003G= (p.Val335=) c.925G= (p.Val309=) c.892G= (p.Val298=) c.718G= (p.Val240=) c.496G= (p.Val166=) c.487G= (p.Val163=) | dbSNP |