| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.40411600G>T | CA116359 | IVD | c.506G>T (p.Gly169Val) c.596G>T (p.Gly199Val) c.515G>T (p.Gly172Val) c.605G>T (p.Gly202Val) c.355G>T c.202G>T n.219G>T c.548G>T (p.Gly183Val) n.605G>T n.706G>T c.683G>T (p.Gly228Val) n.1006G>T c.692G>T (p.Gly231Val) c.635G>T (p.Gly212Val) n.955G>T n.996G>T n.1008G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40411600G= | CA2171765948 | IVD | c.506G= (p.Gly169=) c.596G= (p.Gly199=) c.515G= (p.Gly172=) c.605G= (p.Gly202=) c.355G= c.202G= n.219G= c.548G= (p.Gly183=) n.605G= n.706G= c.683G= (p.Gly228=) n.1006G= c.692G= (p.Gly231=) c.635G= (p.Gly212=) n.955G= n.996G= n.1008G= | dbSNP |