| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44145560C>T | CA367398533 | GCK | c.*1188G>A (n.*1188G>A) c.*310G>A (n.*310G>A) n.416G>A c.224G>A (p.Arg75His) c.1193G>A (p.Arg398His) c.1190G>A (p.Arg397His) c.1253G>A (p.Arg418His) n.202G>A c.242G>A (p.Arg81His) c.1187G>A (p.Arg396His) c.1139G>A (p.Arg380His) n.570G>A c.179G>A (p.Arg60His) c.50G>A (p.Arg17His) | ClinVar dbSNP gnomAD v4 |
| 7 | g.44145560C>A | CA341587 | GCK | c.*1188G>T (n.*1188G>T) c.*310G>T (n.*310G>T) n.416G>T c.224G>T (p.Arg75Leu) c.1193G>T (p.Arg398Leu) c.1190G>T (p.Arg397Leu) c.1253G>T (p.Arg418Leu) n.202G>T c.242G>T (p.Arg81Leu) c.1187G>T (p.Arg396Leu) c.1139G>T (p.Arg380Leu) n.570G>T c.179G>T (p.Arg60Leu) c.50G>T (p.Arg17Leu) | ClinVar dbSNP gnomAD v4 |