| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.151565729C>T | CA013769 | PRKAG2 | c.*126G>A (n.*126G>A) c.1387G>A (p.Asp463Asn) c.1390G>A (p.Asp464Asn) c.667G>A (p.Asp223Asn) c.491G>A c.1015G>A (p.Asp339Asn) n.884G>A c.607G>A (p.Asp203Asn) n.2319G>A c.*503G>A (n.*503G>A) c.*709G>A (n.*709G>A) c.1258G>A (p.Asp420Asn) c.1244G>A (n.1244G>A) n.1606G>A c.1255G>A (p.Asp419Asn) n.1937G>A c.1018G>A (p.Asp340Asn) c.1378G>A (p.Asp460Asn) c.1375G>A (p.Asp459Asn) c.643G>A (p.Asp215Asn) c.664G>A (p.Asp222Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.151565729C= | CA1752721652 | PRKAG2 | c.*126G= (n.*126G=) c.1387G= (p.Asp463=) c.1390G= (p.Asp464=) c.667G= (p.Asp223=) c.491G= c.1015G= (p.Asp339=) n.884G= c.607G= (p.Asp203=) n.2319G= c.*503G= (n.*503G=) c.*709G= (n.*709G=) c.1258G= (p.Asp420=) c.1244G= (n.1244G=) n.1606G= c.1255G= (p.Asp419=) n.1937G= c.1018G= (p.Asp340=) c.1378G= (p.Asp460=) c.1375G= (p.Asp459=) c.643G= (p.Asp215=) c.664G= (p.Asp222=) | dbSNP |