Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.121558767C>A | CA383036055 | SORL1 | c.2840C>A (p.Thr947Lys) n.568C>A n.546C>A c.1301C>A (p.Thr434Lys) c.200C>A (p.Thr67Lys) c.2528C>A (p.Thr843Lys) c.2315C>A (p.Thr772Lys) | dbSNP gnomAD v4 |
11 | g.121558767C>T | CA6329068 | SORL1 | c.2840C>T (p.Thr947Met) n.568C>T n.546C>T c.1301C>T (p.Thr434Met) c.200C>T (p.Thr67Met) c.2528C>T (p.Thr843Met) c.2315C>T (p.Thr772Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |