| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44147678C>G | CA208420 | GCK | c.*833G>C (n.*833G>C) c.835G>C (p.Glu279Gln) c.838G>C (p.Glu280Gln) c.832G>C (p.Glu278Gln) c.784G>C (p.Glu262Gln) n.12C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44147678C>T | CA157915593 | GCK | c.*833G>A (n.*833G>A) c.835G>A (p.Glu279Lys) c.838G>A (p.Glu280Lys) c.832G>A (p.Glu278Lys) c.784G>A (p.Glu262Lys) n.12C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44147678C>A | CA126207 | GCK | c.*833G>T (n.*833G>T) c.835G>T (p.Glu279Ter) c.838G>T (p.Glu280Ter) c.832G>T (p.Glu278Ter) c.784G>T (p.Glu262Ter) n.12C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |