| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.49864212dup | CA316525 | PNKP | c.603dup (p.Lys202Ter) c.*140dup (n.*140dup) c.*530dup (n.*530dup) n.1104dup c.523dup (p.Ter175LeuextTer14) c.258-141dup n.374dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.49864212A= | CA2340624089 | PNKP | c.603T= (p.Arg201=) c.*140T= (n.*140T=) c.*530T= (n.*530T=) n.1104T= c.523T= (p.Ter175=) c.258-141T= n.374T= | dbSNP dbSNP |