| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44145190del | CA16609265 | GCK | c.*1342del (n.*1342del) c.*464del (n.*464del) n.570del c.378del (p.Ala127ArgfsTer?) c.1347del (p.Ala450ArgfsTer?) c.1344del (p.Ala449ArgfsTer?) c.1407del (p.Ala470ArgfsTer?) n.356del c.1344del (p.Ala449ArgfsTer15) c.396del (p.Ala133ArgfsTer?) c.1341del (p.Ala448ArgfsTer?) c.1293del (p.Ala432ArgfsTer?) n.724del c.333del (p.Ala112ArgfsTer?) c.204del (p.Ala69ArgfsTer15) c.204del (p.Ala69ArgfsTer?) | ClinVar dbSNP |
| 7 | g.44145190G= | CA1703612667 | GCK | c.*1342C= (n.*1342C=) c.*464C= (n.*464C=) n.570C= c.378C= (p.Gly126=) c.1347C= (p.Gly449=) c.1344C= (p.Gly448=) c.1407C= (p.Gly469=) n.356C= c.396C= (p.Gly132=) c.1341C= (p.Gly447=) c.1293C= (p.Gly431=) n.724C= c.333C= (p.Gly111=) c.204C= (p.Gly68=) | dbSNP dbSNP |