Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.94111537G>A | CA226972 | ABCA4 | c.203C>T (p.Pro68Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94111537G>C | CA226971 | ABCA4 | c.203C>G (p.Pro68Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.94111537G>T | CA341285559 | ABCA4 | c.203C>A (p.Pro68Gln) | dbSNP gnomAD v4 |
1 | g.94111537G= | CA1140763464 | ABCA4 | c.203C= (p.Pro68=) | dbSNP |