| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44153402C>T | CA367403564 | GCK | c.*105G>A (n.*105G>A) c.107G>A (p.Arg36Gln) n.593G>A c.110G>A (p.Arg37Gln) c.104G>A (p.Arg35Gln) n.542G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44153402C>G | CA213709 | GCK | c.*105G>C (n.*105G>C) c.107G>C (p.Arg36Pro) n.593G>C c.110G>C (p.Arg37Pro) c.104G>C (p.Arg35Pro) n.542G>C | ClinVar dbSNP |