| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44145663C>T | CA16618466 | GCK | c.*1085G>A (n.*1085G>A) c.*207G>A (n.*207G>A) n.313G>A c.121G>A (p.Asp41Asn) c.1090G>A (p.Asp364Asn) c.1087G>A (p.Asp363Asn) c.1150G>A (p.Asp384Asn) n.99G>A c.139G>A (p.Asp47Asn) c.1084G>A (p.Asp362Asn) c.1036G>A (p.Asp346Asn) n.467G>A n.385G>A c.76G>A (p.Asp26Asn) c.-54G>A (n.-54G>A) | ClinVar dbSNP |
| 7 | g.44145663C= | CA1703612944 | GCK | c.*1085G= (n.*1085G=) c.*207G= (n.*207G=) n.313G= c.121G= (p.Asp41=) c.1090G= (p.Asp364=) c.1087G= (p.Asp363=) c.1150G= (p.Asp384=) n.99G= c.139G= (p.Asp47=) c.1084G= (p.Asp362=) c.1036G= (p.Asp346=) n.467G= n.385G= c.76G= (p.Asp26=) c.-54G= (n.-54G=) | dbSNP |