| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.123352463C>T | CA347806 | ADCY5 | c.-71G>A (n.-71G>A) c.218G>A (p.Arg73Gln) c.1253G>A (p.Arg418Gln) c.203G>A (p.Arg68Gln) n.548G>A c.157G>A (p.Gly53Ser) c.152G>A (p.Arg51Gln) c.254G>A (p.Arg85Gln) c.164G>A (p.Arg55Gln) c.155G>A (p.Arg52Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.123352463C= | CA1398358756 | ADCY5 | c.-71G= (n.-71G=) c.218G= (p.Arg73=) c.1253G= (p.Arg418=) c.203G= (p.Arg68=) n.548G= c.157G= (p.Gly53=) c.152G= (p.Arg51=) c.254G= (p.Arg85=) c.164G= (p.Arg55=) c.155G= (p.Arg52=) | dbSNP |