| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.151568750G>T | CA013659 | PRKAG2 | c.473C>A (p.Thr158Asn) c.1196C>A (p.Thr399Asn) c.1199C>A (p.Thr400Asn) c.476C>A (p.Thr159Asn) c.259C>A c.824C>A (p.Thr275Asn) n.693C>A c.416C>A (p.Thr139Asn) n.1314C>A c.*346+1421C>A (n.*346+1421C>A) c.*518C>A (n.*518C>A) c.1067C>A (p.Thr356Asn) c.967C>A (n.967C>A) c.1064C>A (p.Thr355Asn) n.932C>A c.251C>A (p.Thr84Asn) c.*439C>A (n.*439C>A) c.827C>A (p.Thr276Asn) c.1187C>A (p.Thr396Asn) c.1184C>A (p.Thr395Asn) c.452C>A (p.Thr151Asn) | ClinVar dbSNP |
| 7 | g.151568750G= | CA1752725514 | PRKAG2 | c.473C= (p.Thr158=) c.1196C= (p.Thr399=) c.1199C= (p.Thr400=) c.476C= (p.Thr159=) c.259C= c.824C= (p.Thr275=) n.693C= c.416C= (p.Thr139=) n.1314C= c.*346+1421C= (n.*346+1421C=) c.*518C= (n.*518C=) c.1067C= (p.Thr356=) c.967C= (n.967C=) c.1064C= (p.Thr355=) n.932C= c.251C= (p.Thr84=) c.*439C= (n.*439C=) c.827C= (p.Thr276=) c.1187C= (p.Thr396=) c.1184C= (p.Thr395=) c.452C= (p.Thr151=) | dbSNP |
| 7 | g.151568750G>C | CA370071479 | PRKAG2 | c.473C>G (p.Thr158Ser) c.1196C>G (p.Thr399Ser) c.1199C>G (p.Thr400Ser) c.476C>G (p.Thr159Ser) c.259C>G c.824C>G (p.Thr275Ser) n.693C>G c.416C>G (p.Thr139Ser) n.1314C>G c.*346+1421C>G (n.*346+1421C>G) c.*518C>G (n.*518C>G) c.1067C>G (p.Thr356Ser) c.967C>G (n.967C>G) c.1064C>G (p.Thr355Ser) n.932C>G c.251C>G (p.Thr84Ser) c.*439C>G (n.*439C>G) c.827C>G (p.Thr276Ser) c.1187C>G (p.Thr396Ser) c.1184C>G (p.Thr395Ser) c.452C>G (p.Thr151Ser) | dbSNP |