Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.94062707A>G | CA16617211 | ABCA4 | c.1807T>C (p.Tyr603His) c.-65+467T>C (n.-65+467T>C) | ClinVar dbSNP gnomAD v4 |
1 | g.94062707A= | CA1181418852 | ABCA4 | c.1807T= (p.Tyr603=) c.-65+467T= (n.-65+467T=) | dbSNP |