| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.44352047C>T | CA8602146 | GRN | c.1212C>T (p.Cys404=) c.1136+295C>T (n.1136+295C>T) c.653C>T c.741C>T (p.Cys247=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44352047C>A | CA275534 | GRN | c.1212C>A (p.Cys404Ter) c.1136+295C>A (n.1136+295C>A) c.653C>A c.741C>A (p.Cys247Ter) | ClinVar dbSNP |
| 17 | g.44352047C= | CA2261354474 | GRN | c.1212C= (p.Cys404=) c.1136+295C= (n.1136+295C=) c.653C= c.741C= (p.Cys247=) | dbSNP |