| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44145245A>G | CA213749 | GCK | c.*1287T>C (n.*1287T>C) c.*409T>C (n.*409T>C) n.515T>C c.323T>C (p.Leu108Pro) c.1292T>C (p.Leu431Pro) c.1289T>C (p.Leu430Pro) c.1352T>C (p.Leu451Pro) n.301T>C c.341T>C (p.Leu114Pro) c.1286T>C (p.Leu429Pro) c.1238T>C (p.Leu413Pro) n.669T>C c.278T>C (p.Leu93Pro) c.149T>C (p.Leu50Pro) | ClinVar dbSNP |
| 7 | g.44145245A>T | CA367397169 | GCK | c.*1287T>A (n.*1287T>A) c.*409T>A (n.*409T>A) n.515T>A c.323T>A (p.Leu108Gln) c.1292T>A (p.Leu431Gln) c.1289T>A (p.Leu430Gln) c.1352T>A (p.Leu451Gln) n.301T>A c.341T>A (p.Leu114Gln) c.1286T>A (p.Leu429Gln) c.1238T>A (p.Leu413Gln) n.669T>A c.278T>A (p.Leu93Gln) c.149T>A (p.Leu50Gln) | dbSNP |
| 7 | g.44145245A= | CA1703612694 | GCK | c.*1287T= (n.*1287T=) c.*409T= (n.*409T=) n.515T= c.323T= (p.Leu108=) c.1292T= (p.Leu431=) c.1289T= (p.Leu430=) c.1352T= (p.Leu451=) n.301T= c.341T= (p.Leu114=) c.1286T= (p.Leu429=) c.1238T= (p.Leu413=) n.669T= c.278T= (p.Leu93=) c.149T= (p.Leu50=) | dbSNP |