| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.121577381T>G | CA6329300 | SORL1 | c.3561T>G (p.Ser1187=) c.393T>G (p.Ser131=) c.99T>G (p.Ser33=) c.291T>G (p.Ser97=) c.3447T>G (p.Ser1149=) c.2022T>G (p.Ser674=) c.921T>G (p.Ser307=) c.3249T>G (p.Ser1083=) c.3036T>G (p.Ser1012=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121577381T>A | CA477219353 | SORL1 | c.3561T>A (p.Ser1187=) c.393T>A (p.Ser131=) c.99T>A (p.Ser33=) c.291T>A (p.Ser97=) c.3447T>A (p.Ser1149=) c.2022T>A (p.Ser674=) c.921T>A (p.Ser307=) c.3249T>A (p.Ser1083=) c.3036T>A (p.Ser1012=) | dbSNP gnomAD v4 |
| 11 | g.121577381T= | CA2004947516 | SORL1 | c.3561T= (p.Ser1187=) c.393T= (p.Ser131=) c.99T= (p.Ser33=) c.291T= (p.Ser97=) c.3447T= (p.Ser1149=) c.2022T= (p.Ser674=) c.921T= (p.Ser307=) c.3249T= (p.Ser1083=) c.3036T= (p.Ser1012=) | dbSNP |