| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44150006A>G | CA213800 | GCK | c.*540T>C (n.*540T>C) c.542T>C (p.Val181Ala) n.1028T>C c.545T>C (p.Val182Ala) c.539T>C (p.Val180Ala) c.491T>C (p.Val164Ala) | ClinVar dbSNP |
| 7 | g.44150006A>T | CA367401616 | GCK | c.*540T>A (n.*540T>A) c.542T>A (p.Val181Asp) n.1028T>A c.545T>A (p.Val182Asp) c.539T>A (p.Val180Asp) c.491T>A (p.Val164Asp) | dbSNP |
| 7 | g.44150006A= | CA1703635977 | GCK | c.*540T= (n.*540T=) c.542T= (p.Val181=) n.1028T= c.545T= (p.Val182=) c.539T= (p.Val180=) c.491T= (p.Val164=) | dbSNP |