| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44149794G>C | CA213818 | GCK | c.*643C>G (n.*643C>G) c.645C>G (p.Tyr215Ter) n.1131C>G c.648C>G (p.Tyr216Ter) c.642C>G (p.Tyr214Ter) c.594C>G (p.Tyr198Ter) | ClinVar dbSNP gnomAD v4 |
| 7 | g.44149794G>T | CA367401243 | GCK | c.*643C>A (n.*643C>A) c.645C>A (p.Tyr215Ter) n.1131C>A c.648C>A (p.Tyr216Ter) c.642C>A (p.Tyr214Ter) c.594C>A (p.Tyr198Ter) | ClinVar dbSNP gnomAD v4 |
| 7 | g.44149794G>A | CA4239566 | GCK | c.*643C>T (n.*643C>T) c.645C>T (p.Tyr215=) n.1131C>T c.648C>T (p.Tyr216=) c.642C>T (p.Tyr214=) c.594C>T (p.Tyr198=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44149794G= | CA1703635864 | GCK | c.*643C= (n.*643C=) c.645C= (p.Tyr215=) n.1131C= c.648C= (p.Tyr216=) c.642C= (p.Tyr214=) c.594C= (p.Tyr198=) | dbSNP |