| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.121605213T>A | CA6329731 | SORL1 | c.4752T>A (p.Ala1584=) c.1584T>A (p.Ala528=) c.597T>A (p.Ala199=) c.1290T>A (p.Ala430=) c.1482T>A (p.Ala494=) c.4638T>A (p.Ala1546=) c.3213T>A (p.Ala1071=) c.2112T>A (p.Ala704=) c.4440T>A (p.Ala1480=) c.4227T>A (p.Ala1409=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121605213T= | CA2004922194 | SORL1 | c.4752T= (p.Ala1584=) c.1584T= (p.Ala528=) c.597T= (p.Ala199=) c.1290T= (p.Ala430=) c.1482T= (p.Ala494=) c.4638T= (p.Ala1546=) c.3213T= (p.Ala1071=) c.2112T= (p.Ala704=) c.4440T= (p.Ala1480=) c.4227T= (p.Ala1409=) | dbSNP |
| 11 | g.121605213T>C | CA477221762 | SORL1 | c.4752T>C (p.Ala1584=) c.1584T>C (p.Ala528=) c.597T>C (p.Ala199=) c.1290T>C (p.Ala430=) c.1482T>C (p.Ala494=) c.4638T>C (p.Ala1546=) c.3213T>C (p.Ala1071=) c.2112T>C (p.Ala704=) c.4440T>C (p.Ala1480=) c.4227T>C (p.Ala1409=) | dbSNP |