| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.123352464G>A | CA347787 | ADCY5 | c.-72C>T (n.-72C>T) c.217C>T (p.Arg73Trp) c.1252C>T (p.Arg418Trp) c.202C>T (p.Arg68Trp) n.547C>T c.156C>T (p.Arg52=) c.151C>T (p.Arg51Trp) c.253C>T (p.Arg85Trp) c.163C>T (p.Arg55Trp) c.154C>T (p.Arg52Trp) | ClinVar dbSNP |
| 3 | g.123352464G= | CA1398358757 | ADCY5 | c.-72C= (n.-72C=) c.217C= (p.Arg73=) c.1252C= (p.Arg418=) c.202C= (p.Arg68=) n.547C= c.156C= (p.Arg52=) c.151C= (p.Arg51=) c.253C= (p.Arg85=) c.163C= (p.Arg55=) c.154C= (p.Arg52=) | dbSNP |
| 3 | g.123352464G>C | CA354222550 | ADCY5 | c.-72C>G (n.-72C>G) c.217C>G (p.Arg73Gly) c.1252C>G (p.Arg418Gly) c.202C>G (p.Arg68Gly) n.547C>G c.156C>G (p.Arg52=) c.151C>G (p.Arg51Gly) c.253C>G (p.Arg85Gly) c.163C>G (p.Arg55Gly) c.154C>G (p.Arg52Gly) | ClinVar dbSNP |