| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.94007703G>A | CA227358 | ABCA4 | c.5936C>T (p.Thr1979Ile) n.352C>T n.50C>T c.2312C>T (p.Thr771Ile) | ClinVar dbSNP |
| 1 | g.94007703G>C | CA341279610 | ABCA4 | c.5936C>G (p.Thr1979Arg) n.352C>G n.50C>G c.2312C>G (p.Thr771Arg) | dbSNP |
| 1 | g.94007703G= | CA1140726048 | ABCA4 | c.5936C= (p.Thr1979=) n.352C= n.50C= c.2312C= (p.Thr771=) | dbSNP dbSNP |