| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44153396T>G | CA16618475 | GCK | c.*111A>C (n.*111A>C) c.113A>C (p.Gln38Pro) n.599A>C c.116A>C (p.Gln39Pro) c.110A>C (p.Gln37Pro) n.548A>C | ClinVar dbSNP gnomAD v4 |
| 7 | g.44153396T= | CA1703637560 | GCK | c.*111A= (n.*111A=) c.113A= (p.Gln38=) n.599A= c.116A= (p.Gln39=) c.110A= (p.Gln37=) n.548A= | dbSNP |
| 7 | g.44153396T>A | CA367403522 | GCK | c.*111A>T (n.*111A>T) c.113A>T (p.Gln38Leu) n.599A>T c.116A>T (p.Gln39Leu) c.110A>T (p.Gln37Leu) n.548A>T | ClinVar dbSNP |