| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.24841324G>T | CA425176953 | ADCY3 | c.1131C>A (p.Pro377=) c.399C>A (p.Pro133=) c.981C>A (p.Pro327=) n.514C>A c.144C>A (p.Pro48=) c.465C>A (p.Pro155=) c.408C>A (p.Pro136=) c.495C>A (p.Pro165=) | dbSNP gnomAD v4 |
| 2 | g.24841324G>C | CA425176952 | ADCY3 | c.1131C>G (p.Pro377=) c.399C>G (p.Pro133=) c.981C>G (p.Pro327=) n.514C>G c.144C>G (p.Pro48=) c.465C>G (p.Pro155=) c.408C>G (p.Pro136=) c.495C>G (p.Pro165=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.24841324G>A | CA1554287 | ADCY3 | c.1131C>T (p.Pro377=) c.399C>T (p.Pro133=) c.981C>T (p.Pro327=) n.514C>T c.144C>T (p.Pro48=) c.465C>T (p.Pro155=) c.408C>T (p.Pro136=) c.495C>T (p.Pro165=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |