Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.68444825C>T | CA226539 | RPE65 | c.304G>A (p.Glu102Lys) c.28G>A (p.Glu10Lys) | ClinVar dbSNP |
1 | g.68444825C>A | CA226540 | RPE65 | c.304G>T (p.Glu102Ter) c.28G>T (p.Glu10Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.68444825C= | CA1140762642 | RPE65 | c.304G= (p.Glu102=) c.28G= (p.Glu10=) | dbSNP |