Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.121631046G>T | CA2004939029 | SORL1 | c.*1483G>T (n.*1483G>T) n.759-970G>T | dbSNP gnomAD v4 |
11 | g.121631046G>A | CA13400148 | SORL1 | c.*1483G>A (n.*1483G>A) n.759-970G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |