| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.44352081dup | CA275537 | GRN | c.1246dup (p.Cys416LeufsTer30) c.1136+329dup (n.1136+329dup) c.687dup c.775dup (p.Cys259LeufsTer30) | ClinVar dbSNP |
| 17 | g.44352081T= | CA3223372638 | GRN | c.1246T= (p.Cys416=) c.1136+329T= (n.1136+329T=) c.687T= c.775T= (p.Cys259=) | dbSNP |