| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44147810T>C | CA16605219 | GCK | c.*701A>G (n.*701A>G) c.703A>G (p.Met235Val) c.706A>G (p.Met236Val) c.700A>G (p.Met234Val) c.652A>G (p.Met218Val) n.82+62T>C | ClinVar dbSNP |
| 7 | g.44147810T>A | CA367400743 | GCK | c.*701A>T (n.*701A>T) c.703A>T (p.Met235Leu) c.706A>T (p.Met236Leu) c.700A>T (p.Met234Leu) c.652A>T (p.Met218Leu) n.82+62T>A | dbSNP gnomAD v4 |
| 7 | g.44147810T= | CA1703634953 | GCK | c.*701A= (n.*701A=) c.703A= (p.Met235=) c.706A= (p.Met236=) c.700A= (p.Met234=) c.652A= (p.Met218=) n.82+62T= | dbSNP |