| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.151568801T>C | CA013609 | PRKAG2 | c.422A>G (p.His141Arg) c.1145A>G (p.His382Arg) c.1148A>G (p.His383Arg) c.425A>G (p.His142Arg) c.208A>G c.773A>G (p.His258Arg) n.642A>G c.365A>G (p.His122Arg) n.1263A>G c.*346+1370A>G (n.*346+1370A>G) c.*467A>G (n.*467A>G) c.1016A>G (p.His339Arg) c.916A>G (n.916A>G) c.1013A>G (p.His338Arg) n.881A>G c.200A>G (p.His67Arg) c.*388A>G (n.*388A>G) c.776A>G (p.His259Arg) c.1136A>G (p.His379Arg) c.1133A>G (p.His378Arg) c.401A>G (p.His134Arg) | ClinVar dbSNP |
| 7 | g.151568801T= | CA1752725638 | PRKAG2 | c.422A= (p.His141=) c.1145A= (p.His382=) c.1148A= (p.His383=) c.425A= (p.His142=) c.208A= c.773A= (p.His258=) n.642A= c.365A= (p.His122=) n.1263A= c.*346+1370A= (n.*346+1370A=) c.*467A= (n.*467A=) c.1016A= (p.His339=) c.916A= (n.916A=) c.1013A= (p.His338=) n.881A= c.200A= (p.His67=) c.*388A= (n.*388A=) c.776A= (p.His259=) c.1136A= (p.His379=) c.1133A= (p.His378=) c.401A= (p.His134=) | dbSNP |
| 7 | g.151568801T>A | CA370071589 | PRKAG2 | c.422A>T (p.His141Leu) c.1145A>T (p.His382Leu) c.1148A>T (p.His383Leu) c.425A>T (p.His142Leu) c.208A>T c.773A>T (p.His258Leu) n.642A>T c.365A>T (p.His122Leu) n.1263A>T c.*346+1370A>T (n.*346+1370A>T) c.*467A>T (n.*467A>T) c.1016A>T (p.His339Leu) c.916A>T (n.916A>T) c.1013A>T (p.His338Leu) n.881A>T c.200A>T (p.His67Leu) c.*388A>T (n.*388A>T) c.776A>T (p.His259Leu) c.1136A>T (p.His379Leu) c.1133A>T (p.His378Leu) c.401A>T (p.His134Leu) | dbSNP |