| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.46346146G>T | CA250506 | PCNT | c.658G>T (p.Glu220Ter) n.744G>T c.583G>T (p.Glu195Ter) c.831G>T (p.Val277=) n.2093G>T n.9G>T n.927G>T n.746G>T c.304G>T (p.Glu102Ter) c.739G>T (p.Glu247Ter) c.-1451G>T (n.-1451G>T) | ClinVar dbSNP |
| 21 | g.46346146G= | CA2392628498 | PCNT | c.658G= (p.Glu220=) n.744G= c.583G= (p.Glu195=) c.831G= (p.Val277=) n.2093G= n.9G= n.927G= n.746G= c.304G= (p.Glu102=) c.739G= (p.Glu247=) c.-1451G= (n.-1451G=) | dbSNP |