| 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 |
| 1 | g.94047009C= | CA1139894810 | ABCA4 | c.2828G= (p.Arg943=) c.2606G= (p.Arg869=) c.-64-6920G= (n.-64-6920G=) | dbSNP |
| 1 | g.94047009C>G | CA341275462 | ABCA4 | c.2828G>C (p.Arg943Pro) c.2606G>C (p.Arg869Pro) c.-64-6920G>C (n.-64-6920G>C) | dbSNP |