| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.151576438G>A | CA058620 | PRKAG2 | c.153C>T (p.Phe51=) c.876C>T (p.Phe292=) c.879C>T (p.Phe293=) c.156C>T (p.Phe52=) n.222C>T c.504C>T (p.Phe168=) n.373C>T c.96C>T (p.Phe32=) n.994C>T c.*119C>T (n.*119C>T) n.81C>T c.*198C>T (n.*198C>T) c.747C>T (p.Phe249=) c.647C>T (n.647C>T) c.744C>T (p.Phe248=) n.612C>T n.260C>T n.284C>T n.225C>T c.507C>T (p.Phe169=) c.*128C>T (n.*128C>T) c.867C>T (p.Phe289=) c.864C>T (p.Phe288=) c.132C>T (p.Phe44=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.151576438G>T | CA014610 | PRKAG2 | c.153C>A (p.Phe51Leu) c.876C>A (p.Phe292Leu) c.879C>A (p.Phe293Leu) c.156C>A (p.Phe52Leu) n.222C>A c.504C>A (p.Phe168Leu) n.373C>A c.96C>A (p.Phe32Leu) n.994C>A c.*119C>A (n.*119C>A) n.81C>A c.*198C>A (n.*198C>A) c.747C>A (p.Phe249Leu) c.647C>A (n.647C>A) c.744C>A (p.Phe248Leu) n.612C>A n.260C>A n.284C>A n.225C>A c.507C>A (p.Phe169Leu) c.*128C>A (n.*128C>A) c.867C>A (p.Phe289Leu) c.864C>A (p.Phe288Leu) c.132C>A (p.Phe44Leu) | ClinVar dbSNP COSMIC COSMIC |