| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.121496917T>G | CA383286767 | SORL1 | c.807T>G (p.His269Gln) n.759T>G c.495T>G (p.His165Gln) c.282T>G (p.His94Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.121496917T>C | CA6328479 | SORL1 | c.807T>C (p.His269=) n.759T>C c.495T>C (p.His165=) c.282T>C (p.His94=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121496917T>A | CA383286766 | SORL1 | c.807T>A (p.His269Gln) n.759T>A c.495T>A (p.His165Gln) c.282T>A (p.His94Gln) | dbSNP gnomAD v4 |