Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.94021385G>A | CA341283189 | ABCA4 | c.4873C>T (p.His1625Tyr) n.367C>T c.1249C>T (p.His417Tyr) | ClinVar dbSNP |
1 | g.94021385G= | CA1181408254 | ABCA4 | c.4873C= (p.His1625=) n.367C= c.1249C= (p.His417=) | dbSNP |