| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.123325337C>A | CA354218310 | ADCY5 | c.750G>T (p.Lys250Asn) c.1038G>T (p.Lys346Asn) c.2073G>T (p.Lys691Asn) n.332G>T c.1023G>T (p.Lys341Asn) c.972G>T (p.Lys324Asn) c.1074G>T (p.Lys358Asn) c.984G>T (p.Lys328Asn) c.975G>T (p.Lys325Asn) | ClinVar dbSNP |
| 3 | g.123325337C>T | CA435293328 | ADCY5 | c.750G>A (p.Lys250=) c.1038G>A (p.Lys346=) c.2073G>A (p.Lys691=) n.332G>A c.1023G>A (p.Lys341=) c.972G>A (p.Lys324=) c.1074G>A (p.Lys358=) c.984G>A (p.Lys328=) c.975G>A (p.Lys325=) | dbSNP gnomAD v4 COSMIC |
| 3 | g.123325337C= | CA1398346231 | ADCY5 | c.750G= (p.Lys250=) c.1038G= (p.Lys346=) c.2073G= (p.Lys691=) n.332G= c.1023G= (p.Lys341=) c.972G= (p.Lys324=) c.1074G= (p.Lys358=) c.984G= (p.Lys328=) c.975G= (p.Lys325=) | dbSNP |