| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44146464T>C | CA213700 | GCK | c.*1016A>G (n.*1016A>G) c.*138A>G (n.*138A>G) n.244A>G c.1021A>G (p.Ser341Gly) c.1018A>G (p.Ser340Gly) c.1081A>G (p.Ser361Gly) c.1015A>G (p.Ser339Gly) c.967A>G (p.Ser323Gly) n.316A>G c.8+155A>G (n.8+155A>G) | ClinVar dbSNP gnomAD v4 |
| 7 | g.44146464T>A | CA367399688 | GCK | c.*1016A>T (n.*1016A>T) c.*138A>T (n.*138A>T) n.244A>T c.1021A>T (p.Ser341Cys) c.1018A>T (p.Ser340Cys) c.1081A>T (p.Ser361Cys) c.1015A>T (p.Ser339Cys) c.967A>T (p.Ser323Cys) n.316A>T c.8+155A>T (n.8+155A>T) | dbSNP gnomAD v4 |
| 7 | g.44146464T= | CA1703613453 | GCK | c.*1016A= (n.*1016A=) c.*138A= (n.*138A=) n.244A= c.1021A= (p.Ser341=) c.1018A= (p.Ser340=) c.1081A= (p.Ser361=) c.1015A= (p.Ser339=) c.967A= (p.Ser323=) n.316A= c.8+155A= (n.8+155A=) | dbSNP |