Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.94098885C>T | CA958767 | ABCA4 | c.677G>A (p.Arg226His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94098885C>A | CA958766 | ABCA4 | c.677G>T (p.Arg226Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94098885C= | CA1141983907 | ABCA4 | c.677G= (p.Arg226=) | dbSNP |