| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44149977G>A | CA367401530 | GCK | c.*569C>T (n.*569C>T) c.571C>T (p.Arg191Trp) n.1057C>T c.574C>T (p.Arg192Trp) c.568C>T (p.Arg190Trp) c.520C>T (p.Arg174Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44149977G>C | CA367401531 | GCK | c.*569C>G (n.*569C>G) c.571C>G (p.Arg191Gly) n.1057C>G c.574C>G (p.Arg192Gly) c.568C>G (p.Arg190Gly) c.520C>G (p.Arg174Gly) | ClinVar dbSNP |
| 7 | g.44149977G>T | CA454609282 | GCK | c.*569C>A (n.*569C>A) c.571C>A (p.Arg191=) n.1057C>A c.574C>A (p.Arg192=) c.568C>A (p.Arg190=) c.520C>A (p.Arg174=) | dbSNP gnomAD v4 |
| 7 | g.44149977G= | CA1703635961 | GCK | c.*569C= (n.*569C=) c.571C= (p.Arg191=) n.1057C= c.574C= (p.Arg192=) c.568C= (p.Arg190=) c.520C= (p.Arg174=) | dbSNP |