| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44147761A>G | CA213840 | GCK | c.*750T>C (n.*750T>C) c.752T>C (p.Met251Thr) c.755T>C (p.Met252Thr) c.749T>C (p.Met250Thr) c.701T>C (p.Met234Thr) n.82+13A>G | ClinVar dbSNP gnomAD v4 |
| 7 | g.44147761A= | CA1703634929 | GCK | c.*750T= (n.*750T=) c.752T= (p.Met251=) c.755T= (p.Met252=) c.749T= (p.Met250=) c.701T= (p.Met234=) n.82+13A= | dbSNP |
| 7 | g.44147761A>T | CA367400632 | GCK | c.*750T>A (n.*750T>A) c.752T>A (p.Met251Lys) c.755T>A (p.Met252Lys) c.749T>A (p.Met250Lys) c.701T>A (p.Met234Lys) n.82+13A>T | ClinVar dbSNP |