| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44145590G>T | CA213725 | GCK | c.*1158C>A (n.*1158C>A) c.*280C>A (n.*280C>A) n.386C>A c.194C>A (p.Ala65Glu) c.1163C>A (p.Ala388Glu) c.1160C>A (p.Ala387Glu) c.1223C>A (p.Ala408Glu) n.172C>A c.212C>A (p.Ala71Glu) c.1157C>A (p.Ala386Glu) c.1109C>A (p.Ala370Glu) n.540C>A c.149C>A (p.Ala50Glu) c.20C>A (p.Ala7Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44145590G>A | CA213727 | GCK | c.*1158C>T (n.*1158C>T) c.*280C>T (n.*280C>T) n.386C>T c.194C>T (p.Ala65Val) c.1163C>T (p.Ala388Val) c.1160C>T (p.Ala387Val) c.1223C>T (p.Ala408Val) n.172C>T c.212C>T (p.Ala71Val) c.1157C>T (p.Ala386Val) c.1109C>T (p.Ala370Val) n.540C>T c.149C>T (p.Ala50Val) c.20C>T (p.Ala7Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44145590G= | CA1703612894 | GCK | c.*1158C= (n.*1158C=) c.*280C= (n.*280C=) n.386C= c.194C= (p.Ala65=) c.1163C= (p.Ala388=) c.1160C= (p.Ala387=) c.1223C= (p.Ala408=) n.172C= c.212C= (p.Ala71=) c.1157C= (p.Ala386=) c.1109C= (p.Ala370=) n.540C= c.149C= (p.Ala50=) c.20C= (p.Ala7=) | dbSNP |