| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.5999220dup | CA331766 | PMS2 | c.*187dup (n.*187dup) c.590dup (p.Arg198ProfsTer?) c.593dup (p.Arg199ProfsTer14) c.593dup (p.Arg199ProfsTer?) c.136dup (p.Ser46PhefsTer?) c.139dup (p.Ser47PhefsTer?) c.*180dup (n.*180dup) c.42dup (p.Pro15SerfsTer3) c.306dup (p.Pro103SerfsTer3) n.665dup c.275dup (p.Arg93ProfsTer?) c.188dup (p.Arg64ProfsTer?) c.133-1797dup (n.133-1797dup) n.706dup c.414dup c.*94dup (n.*94dup) c.126dup (p.Pro43SerfsTer3) c.*45dup (n.*45dup) c.*96dup (n.*96dup) c.538-1797dup (n.538-1797dup) c.541dup (p.Ser181PhefsTer?) n.505dup n.876dup n.673dup n.799dup c.*493dup (n.*493dup) c.779dup (p.Arg261ProfsTer?) c.141dup (p.Pro48SerfsTer3) c.*42dup (n.*42dup) c.*229dup (n.*229dup) c.544dup (p.Ser182PhefsTer?) n.704dup n.593dup n.62+6773dup n.675dup c.587dup (p.Arg197ProfsTer?) c.638dup (p.Arg214ProfsTer?) c.-341dup (n.-341dup) c.284dup (p.Arg96ProfsTer?) n.680dup c.-241dup (n.-241dup) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.5999220A= | CA3146029485 | PMS2 | c.*187T= (n.*187T=) c.590T= (p.Ile197=) c.593T= (p.Ile198=) c.136T= (p.Ser46=) c.139T= (p.Ser47=) c.*180T= (n.*180T=) c.42T= (p.His14=) c.306T= (p.His102=) n.665T= c.275T= (p.Ile92=) c.188T= (p.Ile63=) c.133-1797T= (n.133-1797T=) n.706T= c.414T= c.*94T= (n.*94T=) c.126T= (p.His42=) c.*45T= (n.*45T=) c.*96T= (n.*96T=) c.538-1797T= (n.538-1797T=) c.541T= (p.Ser181=) n.505T= n.876T= n.673T= n.799T= c.*493T= (n.*493T=) c.779T= (p.Ile260=) c.141T= (p.His47=) c.*42T= (n.*42T=) c.*229T= (n.*229T=) c.544T= (p.Ser182=) n.704T= n.593T= n.62+6773T= n.675T= c.587T= (p.Ile196=) c.638T= (p.Ile213=) c.-341T= (n.-341T=) c.284T= (p.Ile95=) n.680T= c.-241T= (n.-241T=) | dbSNP dbSNP |