| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44145597C>T | CA213721 | GCK | c.*1151G>A (n.*1151G>A) c.*273G>A (n.*273G>A) n.379G>A c.187G>A (p.Gly63Arg) c.1156G>A (p.Gly386Arg) c.1153G>A (p.Gly385Arg) c.1216G>A (p.Gly406Arg) n.165G>A c.205G>A (p.Gly69Arg) c.1150G>A (p.Gly384Arg) c.1102G>A (p.Gly368Arg) n.533G>A c.142G>A (p.Gly48Arg) c.13G>A (p.Gly5Arg) | ClinVar dbSNP gnomAD v4 |
| 7 | g.44145597C= | CA1703612902 | GCK | c.*1151G= (n.*1151G=) c.*273G= (n.*273G=) n.379G= c.187G= (p.Gly63=) c.1156G= (p.Gly386=) c.1153G= (p.Gly385=) c.1216G= (p.Gly406=) n.165G= c.205G= (p.Gly69=) c.1150G= (p.Gly384=) c.1102G= (p.Gly368=) n.533G= c.142G= (p.Gly48=) c.13G= (p.Gly5=) | dbSNP |
| 7 | g.44145597C>G | CA367398717 | GCK | c.*1151G>C (n.*1151G>C) c.*273G>C (n.*273G>C) n.379G>C c.187G>C (p.Gly63Arg) c.1156G>C (p.Gly386Arg) c.1153G>C (p.Gly385Arg) c.1216G>C (p.Gly406Arg) n.165G>C c.205G>C (p.Gly69Arg) c.1150G>C (p.Gly384Arg) c.1102G>C (p.Gly368Arg) n.533G>C c.142G>C (p.Gly48Arg) c.13G>C (p.Gly5Arg) | ClinVar dbSNP |