| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.121496918G>A | CA6328480 | SORL1 | c.808G>A (p.Glu270Lys) n.760G>A c.496G>A (p.Glu166Lys) c.283G>A (p.Glu95Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121496918G>T | CA229977246 | SORL1 | c.808G>T (p.Glu270Ter) n.760G>T c.496G>T (p.Glu166Ter) c.283G>T (p.Glu95Ter) | dbSNP |