| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.44352404C>T | CA225358 | GRN | c.1477C>T (p.Arg493Ter) c.1137-125C>T (n.1137-125C>T) c.111C>T c.918C>T c.1006C>T (p.Arg336Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.44352404C= | CA2261354657 | GRN | c.1477C= (p.Arg493=) c.1137-125C= (n.1137-125C=) c.111C= c.918C= c.1006C= (p.Arg336=) | dbSNP |