Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.44153363G>T | CA213765 | GCK | c.*144C>A (n.*144C>A) c.146C>A (p.Thr49Asn) n.632C>A c.149C>A (p.Thr50Asn) c.143C>A (p.Thr48Asn) | ClinVar dbSNP |
7 | g.44153363G>A | CA367403399 | GCK | c.*144C>T (n.*144C>T) c.146C>T (p.Thr49Ile) n.632C>T c.149C>T (p.Thr50Ile) c.143C>T (p.Thr48Ile) | ClinVar dbSNP |