| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44148538_44152555dup | CA1139771162 | GCK | c.*207-130_*678-705dup c.209-130_680-705dup n.695-130_2387dup c.212-130_683-705dup c.206-130_677-705dup c.209-130_629-705dup | |
| 7 | g.44150976T>A | CA367401904 | GCK | c.*461A>T (n.*461A>T) c.463A>T (p.Arg155Trp) n.949A>T c.466A>T (p.Arg156Trp) c.460A>T (p.Arg154Trp) c.412A>T (p.Arg138Trp) | |
| 7 | g.44150976T>C | CA213790 | GCK | c.*461A>G (n.*461A>G) c.463A>G (p.Arg155Gly) n.949A>G c.466A>G (p.Arg156Gly) c.460A>G (p.Arg154Gly) c.412A>G (p.Arg138Gly) | ClinVar dbSNP |
| 7 | g.44150976T>G | CA454609732 | GCK | c.*461A>C (n.*461A>C) c.463A>C (p.Arg155=) n.949A>C c.466A>C (p.Arg156=) c.460A>C (p.Arg154=) c.412A>C (p.Arg138=) | |
| 7 | g.44150976T= | CA1703636444 | GCK | c.*461A= (n.*461A=) c.463A= (p.Arg155=) n.949A= c.466A= (p.Arg156=) c.460A= (p.Arg154=) c.412A= (p.Arg138=) | |
| 7 | g.44150977C>A | CA454609734 | GCK | c.*460G>T (n.*460G>T) c.462G>T (p.Val154=) n.948G>T c.465G>T (p.Val155=) c.459G>T (p.Val153=) c.411G>T (p.Val137=) | gnomAD v4 |
| 7 | g.44150977C>G | CA454609735 | GCK | c.*460G>C (n.*460G>C) c.462G>C (p.Val154=) n.948G>C c.465G>C (p.Val155=) c.459G>C (p.Val153=) c.411G>C (p.Val137=) | |
| 7 | g.44150977C>T | CA454609736 | GCK | c.*460G>A (n.*460G>A) c.462G>A (p.Val154=) n.948G>A c.465G>A (p.Val155=) c.459G>A (p.Val153=) c.411G>A (p.Val137=) | |
| 7 | g.44150979_44150980del | CA2695202955 | GCK | c.*459_*460del (n.*459_*460del) c.461_462del (p.Val154GlufsTer7) n.947_948del c.464_465del (p.Val155GlufsTer7) c.458_459del (p.Val153GlufsTer7) c.410_411del (p.Val137GlufsTer7) | |
| 7 | g.44150978A>C | CA367401907 | GCK | c.*459T>G (n.*459T>G) c.461T>G (p.Val154Gly) n.947T>G c.464T>G (p.Val155Gly) c.458T>G (p.Val153Gly) c.410T>G (p.Val137Gly) | ClinVar |
| 7 | g.44150978A>G | CA367401909 | GCK | c.*459T>C (n.*459T>C) c.461T>C (p.Val154Ala) n.947T>C c.464T>C (p.Val155Ala) c.458T>C (p.Val153Ala) c.410T>C (p.Val137Ala) | ClinVar gnomAD v4 |
| 7 | g.44150978A>T | CA367401908 | GCK | c.*459T>A (n.*459T>A) c.461T>A (p.Val154Glu) n.947T>A c.464T>A (p.Val155Glu) c.458T>A (p.Val153Glu) c.410T>A (p.Val137Glu) | |
| 7 | g.44150979C>A | CA367401912 | GCK | c.*458G>T (n.*458G>T) c.460G>T (p.Val154Leu) n.946G>T c.463G>T (p.Val155Leu) c.457G>T (p.Val153Leu) c.409G>T (p.Val137Leu) | |
| 7 | g.44150979C= | CA1703636445 | GCK | c.*458G= (n.*458G=) c.460G= (p.Val154=) n.946G= c.463G= (p.Val155=) c.457G= (p.Val153=) c.409G= (p.Val137=) | |
| 7 | g.44150979C>G | CA4239630 | GCK | c.*458G>C (n.*458G>C) c.460G>C (p.Val154Leu) n.946G>C c.463G>C (p.Val155Leu) c.457G>C (p.Val153Leu) c.409G>C (p.Val137Leu) | dbSNP ExAC gnomAD v2 |
| 7 | g.44150979C>T | CA367401913 | GCK | c.*458G>A (n.*458G>A) c.460G>A (p.Val154Met) n.946G>A c.463G>A (p.Val155Met) c.457G>A (p.Val153Met) c.409G>A (p.Val137Met) | |
| 7 | g.44150980A= | CA1703636446 | GCK | c.*457T= (n.*457T=) c.459T= (p.Pro153=) n.945T= c.462T= (p.Pro154=) c.456T= (p.Pro152=) c.408T= (p.Pro136=) | |
| 7 | g.44150980A>C | CA454609740 | GCK | c.*457T>G (n.*457T>G) c.459T>G (p.Pro153=) n.945T>G c.462T>G (p.Pro154=) c.456T>G (p.Pro152=) c.408T>G (p.Pro136=) | |
| 7 | g.44150980A>G | CA454609741 | GCK | c.*457T>C (n.*457T>C) c.459T>C (p.Pro153=) n.945T>C c.462T>C (p.Pro154=) c.456T>C (p.Pro152=) c.408T>C (p.Pro136=) | dbSNP |
| 7 | g.44150980A>T | CA454609744 | GCK | c.*457T>A (n.*457T>A) c.459T>A (p.Pro153=) n.945T>A c.462T>A (p.Pro154=) c.456T>A (p.Pro152=) c.408T>A (p.Pro136=) | |
| 7 | g.44150981G>A | CA367401915 | GCK | c.*456C>T (n.*456C>T) c.458C>T (p.Pro153Leu) n.944C>T c.461C>T (p.Pro154Leu) c.455C>T (p.Pro152Leu) c.407C>T (p.Pro136Leu) | |
| 7 | g.44150981G>C | CA367401916 | GCK | c.*456C>G (n.*456C>G) c.458C>G (p.Pro153Arg) n.944C>G c.461C>G (p.Pro154Arg) c.455C>G (p.Pro152Arg) c.407C>G (p.Pro136Arg) | |
| 7 | g.44150981G>T | CA367401917 | GCK | c.*456C>A (n.*456C>A) c.458C>A (p.Pro153His) n.944C>A c.461C>A (p.Pro154His) c.455C>A (p.Pro152His) c.407C>A (p.Pro136His) | ClinVar |
| 7 | g.44150982G>A | CA213788 | GCK | c.*455C>T (n.*455C>T) c.457C>T (p.Pro153Ser) n.943C>T c.460C>T (p.Pro154Ser) c.454C>T (p.Pro152Ser) c.406C>T (p.Pro136Ser) | ClinVar dbSNP |
| 7 | g.44150982G>C | CA367401918 | GCK | c.*455C>G (n.*455C>G) c.457C>G (p.Pro153Ala) n.943C>G c.460C>G (p.Pro154Ala) c.454C>G (p.Pro152Ala) c.406C>G (p.Pro136Ala) | |
| 7 | g.44150982G= | CA1703636447 | GCK | c.*455C= (n.*455C=) c.457C= (p.Pro153=) n.943C= c.460C= (p.Pro154=) c.454C= (p.Pro152=) c.406C= (p.Pro136=) | |
| 7 | g.44150982G>T | CA367401919 | GCK | c.*455C>A (n.*455C>A) c.457C>A (p.Pro153Thr) n.943C>A c.460C>A (p.Pro154Thr) c.454C>A (p.Pro152Thr) c.406C>A (p.Pro136Thr) | |
| 7 | g.44150983A>C | CA367401920 | GCK | c.*454T>G (n.*454T>G) c.456T>G (p.Phe152Leu) n.942T>G c.459T>G (p.Phe153Leu) c.453T>G (p.Phe151Leu) c.405T>G (p.Phe135Leu) | COSMIC COSMIC COSMIC |
| 7 | g.44150983A>G | CA454609755 | GCK | c.*454T>C (n.*454T>C) c.456T>C (p.Phe152=) n.942T>C c.459T>C (p.Phe153=) c.453T>C (p.Phe151=) c.405T>C (p.Phe135=) | |
| 7 | g.44150983A>T | CA367401922 | GCK | c.*454T>A (n.*454T>A) c.456T>A (p.Phe152Leu) n.942T>A c.459T>A (p.Phe153Leu) c.453T>A (p.Phe151Leu) c.405T>A (p.Phe135Leu) | |
| 7 | g.44150984A>C | CA367401924 | GCK | c.*453T>G (n.*453T>G) c.455T>G (p.Phe152Cys) n.941T>G c.458T>G (p.Phe153Cys) c.452T>G (p.Phe151Cys) c.404T>G (p.Phe135Cys) | |
| 7 | g.44150984A>G | CA367401925 | GCK | c.*453T>C (n.*453T>C) c.455T>C (p.Phe152Ser) n.941T>C c.458T>C (p.Phe153Ser) c.452T>C (p.Phe151Ser) c.404T>C (p.Phe135Ser) | ClinVar |
| 7 | g.44150984A>T | CA367401927 | GCK | c.*453T>A (n.*453T>A) c.455T>A (p.Phe152Tyr) n.941T>A c.458T>A (p.Phe153Tyr) c.452T>A (p.Phe151Tyr) c.404T>A (p.Phe135Tyr) | |
| 7 | g.44150985A= | CA1703636448 | GCK | c.*452T= (n.*452T=) c.454T= (p.Phe152=) n.940T= c.457T= (p.Phe153=) c.451T= (p.Phe151=) c.403T= (p.Phe135=) | |
| 7 | g.44150985A>C | CA367401931 | GCK | c.*452T>G (n.*452T>G) c.454T>G (p.Phe152Val) n.940T>G c.457T>G (p.Phe153Val) c.451T>G (p.Phe151Val) c.403T>G (p.Phe135Val) | |
| 7 | g.44150985A>G | CA367401929 | GCK | c.*452T>C (n.*452T>C) c.454T>C (p.Phe152Leu) n.940T>C c.457T>C (p.Phe153Leu) c.451T>C (p.Phe151Leu) c.403T>C (p.Phe135Leu) | ClinVar dbSNP |
| 7 | g.44150985A>T | CA367401928 | GCK | c.*452T>A (n.*452T>A) c.454T>A (p.Phe152Ile) n.940T>A c.457T>A (p.Phe153Ile) c.451T>A (p.Phe151Ile) c.403T>A (p.Phe135Ile) | |
| 7 | g.44150987_44150989del | CA2695202957 | GCK | c.*450_*452del (n.*450_*452del) c.452_454del (p.Ser151del) n.938_940del c.455_457del (p.Ser152del) c.449_451del (p.Ser150del) c.401_403del (p.Ser134del) | |
| 7 | g.44150986G>A | CA454609766 | GCK | c.*451C>T (n.*451C>T) c.453C>T (p.Ser151=) n.939C>T c.456C>T (p.Ser152=) c.450C>T (p.Ser150=) c.402C>T (p.Ser134=) | |
| 7 | g.44150986G>C | CA454609765 | GCK | c.*451C>G (n.*451C>G) c.453C>G (p.Ser151=) n.939C>G c.456C>G (p.Ser152=) c.450C>G (p.Ser150=) c.402C>G (p.Ser134=) | |
| 7 | g.44150986G>T | CA454609764 | GCK | c.*451C>A (n.*451C>A) c.453C>A (p.Ser151=) n.939C>A c.456C>A (p.Ser152=) c.450C>A (p.Ser150=) c.402C>A (p.Ser134=) | |
| 7 | g.44150986_44150987del | CA2695202958 | GCK | c.*450_*451del (n.*450_*451del) c.452_453del (p.Ser151PhefsTer10) n.938_939del c.455_456del (p.Ser152PhefsTer10) c.449_450del (p.Ser150PhefsTer10) c.401_402del (p.Ser134PhefsTer10) | |
| 7 | g.44150987G>A | CA367401932 | GCK | c.*450C>T (n.*450C>T) c.452C>T (p.Ser151Phe) n.938C>T c.455C>T (p.Ser152Phe) c.449C>T (p.Ser150Phe) c.401C>T (p.Ser134Phe) | |
| 7 | g.44150987G>C | CA367401934 | GCK | c.*450C>G (n.*450C>G) c.452C>G (p.Ser151Cys) n.938C>G c.455C>G (p.Ser152Cys) c.449C>G (p.Ser150Cys) c.401C>G (p.Ser134Cys) | |
| 7 | g.44150987G>T | CA367401935 | GCK | c.*450C>A (n.*450C>A) c.452C>A (p.Ser151Tyr) n.938C>A c.455C>A (p.Ser152Tyr) c.449C>A (p.Ser150Tyr) c.401C>A (p.Ser134Tyr) | ClinVar dbSNP |
| 7 | g.44150989_44150990del | CA2695202959 | GCK | c.*449_*450del (n.*449_*450del) c.451_452del (p.Ser151LeufsTer10) n.937_938del c.454_455del (p.Ser152LeufsTer10) c.448_449del (p.Ser150LeufsTer10) c.400_401del (p.Ser134LeufsTer10) | |
| 7 | g.44150988A>C | CA367401937 | GCK | c.*449T>G (n.*449T>G) c.451T>G (p.Ser151Ala) n.937T>G c.454T>G (p.Ser152Ala) c.448T>G (p.Ser150Ala) c.400T>G (p.Ser134Ala) | |
| 7 | g.44150988A>G | CA367401938 | GCK | c.*449T>C (n.*449T>C) c.451T>C (p.Ser151Pro) n.937T>C c.454T>C (p.Ser152Pro) c.448T>C (p.Ser150Pro) c.400T>C (p.Ser134Pro) | ClinVar gnomAD v4 |
| 7 | g.44150988A>T | CA367401940 | GCK | c.*449T>A (n.*449T>A) c.451T>A (p.Ser151Thr) n.937T>A c.454T>A (p.Ser152Thr) c.448T>A (p.Ser150Thr) c.400T>A (p.Ser134Thr) | |
| 7 | g.44150990_44150992del | CA2580612107 | GCK | c.*447_*449del (n.*447_*449del) c.449_451del (p.Phe150del) n.935_937del c.452_454del (p.Phe151del) c.446_448del (p.Phe149del) c.398_400del (p.Phe133del) | ClinVar |