Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.94047009C>A | CA958143 | ABCA4 | c.2828G>T (p.Arg943Leu) c.2606G>T (p.Arg869Leu) c.-64-6920G>T (n.-64-6920G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94047009C>T | CA119146 | ABCA4 | c.2828G>A (p.Arg943Gln) c.2606G>A (p.Arg869Gln) c.-64-6920G>A (n.-64-6920G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |