Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.117311992T>A | CA2002989927 | BACE1 | c.261+3543A>T (n.261+3543A>T) n.261+3543A>T | dbSNP |
11 | g.117311992T>G | CA13450002 | BACE1 | c.261+3543A>C (n.261+3543A>C) n.261+3543A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |