| 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.44150943_44150957del | CA915944920 | GCK | c.*481+2_*481+16del c.483+2_483+16del n.969+2_969+16del c.486+2_486+16del c.480+2_480+16del c.432+2_432+16del | ClinVar dbSNP gnomAD v4 |
| 7 | g.44150954_44150955del | CA2695202950 | GCK | c.*481+2_*481+3del (n.*481+2_*481+3del) c.483+2_483+3del (n.483+2_483+3del) n.969+2_969+3del c.486+2_486+3del (n.486+2_486+3del) c.480+2_480+3del (n.480+2_480+3del) c.432+2_432+3del (n.432+2_432+3del) | |
| 7 | g.44150955C>A | CA367401822 | GCK | c.*481+1G>T (n.*481+1G>T) c.483+1G>T (n.483+1G>T) n.969+1G>T c.486+1G>T (n.486+1G>T) c.480+1G>T (n.480+1G>T) c.432+1G>T (n.432+1G>T) | |
| 7 | g.44150955C>G | CA367401823 | GCK | c.*481+1G>C (n.*481+1G>C) c.483+1G>C (n.483+1G>C) n.969+1G>C c.486+1G>C (n.486+1G>C) c.480+1G>C (n.480+1G>C) c.432+1G>C (n.432+1G>C) | |
| 7 | g.44150955C>T | CA367401825 | GCK | c.*481+1G>A (n.*481+1G>A) c.483+1G>A (n.483+1G>A) n.969+1G>A c.486+1G>A (n.486+1G>A) c.480+1G>A (n.480+1G>A) c.432+1G>A (n.432+1G>A) | ClinVar |
| 7 | g.44150956C>A | CA367401826 | GCK | c.*481G>T (n.*481G>T) c.483G>T (p.Lys161Asn) n.969G>T c.486G>T (p.Lys162Asn) c.480G>T (p.Lys160Asn) c.432G>T (p.Lys144Asn) | |
| 7 | g.44150956C= | CA1703636433 | GCK | c.*481G= (n.*481G=) c.483G= (p.Lys161=) n.969G= c.486G= (p.Lys162=) c.480G= (p.Lys160=) c.432G= (p.Lys144=) | |
| 7 | g.44150956C>G | CA367401828 | GCK | c.*481G>C (n.*481G>C) c.483G>C (p.Lys161Asn) n.969G>C c.486G>C (p.Lys162Asn) c.480G>C (p.Lys160Asn) c.432G>C (p.Lys144Asn) | |
| 7 | g.44150956C>T | CA213792 | GCK | c.*481G>A (n.*481G>A) c.483G>A (p.Lys161=) n.969G>A c.486G>A (p.Lys162=) c.480G>A (p.Lys160=) c.432G>A (p.Lys144=) | ClinVar dbSNP |
| 7 | g.44150957T>A | CA367401830 | GCK | c.*480A>T (n.*480A>T) c.482A>T (p.Lys161Met) n.968A>T c.485A>T (p.Lys162Met) c.479A>T (p.Lys160Met) c.431A>T (p.Lys144Met) | |
| 7 | g.44150957T>C | CA367401831 | GCK | c.*480A>G (n.*480A>G) c.482A>G (p.Lys161Arg) n.968A>G c.485A>G (p.Lys162Arg) c.479A>G (p.Lys160Arg) c.431A>G (p.Lys144Arg) | ClinVar |
| 7 | g.44150957T>G | CA367401832 | GCK | c.*480A>C (n.*480A>C) c.482A>C (p.Lys161Thr) n.968A>C c.485A>C (p.Lys162Thr) c.479A>C (p.Lys160Thr) c.431A>C (p.Lys144Thr) | |
| 7 | g.44150958_44150960dup | CA2695202952 | GCK | c.*478_*480dup (n.*478_*480dup) c.480_482dup (p.Asp160_Lys161insAsn) n.966_968dup c.483_485dup (p.Asp161_Lys162insAsn) c.477_479dup (p.Asp159_Lys160insAsn) c.429_431dup (p.Asp143_Lys144insAsn) | |
| 7 | g.44150958T>A | CA367401837 | GCK | c.*479A>T (n.*479A>T) c.481A>T (p.Lys161Ter) n.967A>T c.484A>T (p.Lys162Ter) c.478A>T (p.Lys160Ter) c.430A>T (p.Lys144Ter) | ClinVar |
| 7 | g.44150958T>C | CA367401836 | GCK | c.*479A>G (n.*479A>G) c.481A>G (p.Lys161Glu) n.967A>G c.484A>G (p.Lys162Glu) c.478A>G (p.Lys160Glu) c.430A>G (p.Lys144Glu) | |
| 7 | g.44150958T>G | CA367401834 | GCK | c.*479A>C (n.*479A>C) c.481A>C (p.Lys161Gln) n.967A>C c.484A>C (p.Lys162Gln) c.478A>C (p.Lys160Gln) c.430A>C (p.Lys144Gln) | |
| 7 | g.44150959A= | CA1703636434 | GCK | c.*478T= (n.*478T=) c.480T= (p.Asp160=) n.966T= c.483T= (p.Asp161=) c.477T= (p.Asp159=) c.429T= (p.Asp143=) | |
| 7 | g.44150959A>C | CA367401839 | GCK | c.*478T>G (n.*478T>G) c.480T>G (p.Asp160Glu) n.966T>G c.483T>G (p.Asp161Glu) c.477T>G (p.Asp159Glu) c.429T>G (p.Asp143Glu) | |
| 7 | g.44150959A>G | CA454609688 | GCK | c.*478T>C (n.*478T>C) c.480T>C (p.Asp160=) n.966T>C c.483T>C (p.Asp161=) c.477T>C (p.Asp159=) c.429T>C (p.Asp143=) | dbSNP gnomAD v4 |
| 7 | g.44150959A>T | CA367401841 | GCK | c.*478T>A (n.*478T>A) c.480T>A (p.Asp160Glu) n.966T>A c.483T>A (p.Asp161Glu) c.477T>A (p.Asp159Glu) c.429T>A (p.Asp143Glu) | |
| 7 | g.44150960T>A | CA367401842 | GCK | c.*477A>T (n.*477A>T) c.479A>T (p.Asp160Val) n.965A>T c.482A>T (p.Asp161Val) c.476A>T (p.Asp159Val) c.428A>T (p.Asp143Val) | |
| 7 | g.44150960T>C | CA367401844 | GCK | c.*477A>G (n.*477A>G) c.479A>G (p.Asp160Gly) n.965A>G c.482A>G (p.Asp161Gly) c.476A>G (p.Asp159Gly) c.428A>G (p.Asp143Gly) | |
| 7 | g.44150960T>G | CA367401845 | GCK | c.*477A>C (n.*477A>C) c.479A>C (p.Asp160Ala) n.965A>C c.482A>C (p.Asp161Ala) c.476A>C (p.Asp159Ala) c.428A>C (p.Asp143Ala) | |
| 7 | g.44150961C>A | CA367401847 | GCK | c.*476G>T (n.*476G>T) c.478G>T (p.Asp160Tyr) n.964G>T c.481G>T (p.Asp161Tyr) c.475G>T (p.Asp159Tyr) c.427G>T (p.Asp143Tyr) | gnomAD v4 |
| 7 | g.44150961C= | CA1703636435 | GCK | c.*476G= (n.*476G=) c.478G= (p.Asp160=) n.964G= c.481G= (p.Asp161=) c.475G= (p.Asp159=) c.427G= (p.Asp143=) | |
| 7 | g.44150961C>G | CA367401848 | GCK | c.*476G>C (n.*476G>C) c.478G>C (p.Asp160His) n.964G>C c.481G>C (p.Asp161His) c.475G>C (p.Asp159His) c.427G>C (p.Asp143His) | ClinVar |
| 7 | g.44150961C>T | CA367401849 | GCK | c.*476G>A (n.*476G>A) c.478G>A (p.Asp160Asn) n.964G>A c.481G>A (p.Asp161Asn) c.475G>A (p.Asp159Asn) c.427G>A (p.Asp143Asn) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44150962G>A | CA454609695 | GCK | c.*475C>T (n.*475C>T) c.477C>T (p.Ile159=) n.963C>T c.480C>T (p.Ile160=) c.474C>T (p.Ile158=) c.426C>T (p.Ile142=) | gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44150962G>C | CA367401851 | GCK | c.*475C>G (n.*475C>G) c.477C>G (p.Ile159Met) n.963C>G c.480C>G (p.Ile160Met) c.474C>G (p.Ile158Met) c.426C>G (p.Ile142Met) | ClinVar dbSNP |
| 7 | g.44150962G= | CA1703636436 | GCK | c.*475C= (n.*475C=) c.477C= (p.Ile159=) n.963C= c.480C= (p.Ile160=) c.474C= (p.Ile158=) c.426C= (p.Ile142=) | |
| 7 | g.44150962G>T | CA454609696 | GCK | c.*475C>A (n.*475C>A) c.477C>A (p.Ile159=) n.963C>A c.480C>A (p.Ile160=) c.474C>A (p.Ile158=) c.426C>A (p.Ile142=) | dbSNP gnomAD v4 |
| 7 | g.44150963A>C | CA367401853 | GCK | c.*474T>G (n.*474T>G) c.476T>G (p.Ile159Ser) n.962T>G c.479T>G (p.Ile160Ser) c.473T>G (p.Ile158Ser) c.425T>G (p.Ile142Ser) | |
| 7 | g.44150963A>G | CA367401855 | GCK | c.*474T>C (n.*474T>C) c.476T>C (p.Ile159Thr) n.962T>C c.479T>C (p.Ile160Thr) c.473T>C (p.Ile158Thr) c.425T>C (p.Ile142Thr) | ClinVar |
| 7 | g.44150963A>T | CA367401856 | GCK | c.*474T>A (n.*474T>A) c.476T>A (p.Ile159Asn) n.962T>A c.479T>A (p.Ile160Asn) c.473T>A (p.Ile158Asn) c.425T>A (p.Ile142Asn) | ClinVar |
| 7 | g.44150964T>A | CA367401858 | GCK | c.*473A>T (n.*473A>T) c.475A>T (p.Ile159Phe) n.961A>T c.478A>T (p.Ile160Phe) c.472A>T (p.Ile158Phe) c.424A>T (p.Ile142Phe) | |
| 7 | g.44150964T>C | CA367401860 | GCK | c.*473A>G (n.*473A>G) c.475A>G (p.Ile159Val) n.961A>G c.478A>G (p.Ile160Val) c.472A>G (p.Ile158Val) c.424A>G (p.Ile142Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44150964T>G | CA367401857 | GCK | c.*473A>C (n.*473A>C) c.475A>C (p.Ile159Leu) n.961A>C c.478A>C (p.Ile160Leu) c.472A>C (p.Ile158Leu) c.424A>C (p.Ile142Leu) | |
| 7 | g.44150964T= | CA1703636437 | GCK | c.*473A= (n.*473A=) c.475A= (p.Ile159=) n.961A= c.478A= (p.Ile160=) c.472A= (p.Ile158=) c.424A= (p.Ile142=) | |
| 7 | g.44150965G>A | CA454609702 | GCK | c.*472C>T (n.*472C>T) c.474C>T (p.Asp158=) n.960C>T c.477C>T (p.Asp159=) c.471C>T (p.Asp157=) c.423C>T (p.Asp141=) | |
| 7 | g.44150965G>C | CA367401862 | GCK | c.*472C>G (n.*472C>G) c.474C>G (p.Asp158Glu) n.960C>G c.477C>G (p.Asp159Glu) c.471C>G (p.Asp157Glu) c.423C>G (p.Asp141Glu) | |
| 7 | g.44150965G= | CA1703636438 | GCK | c.*472C= (n.*472C=) c.474C= (p.Asp158=) n.960C= c.477C= (p.Asp159=) c.471C= (p.Asp157=) c.423C= (p.Asp141=) | |
| 7 | g.44150965G>T | CA367401863 | GCK | c.*472C>A (n.*472C>A) c.474C>A (p.Asp158Glu) n.960C>A c.477C>A (p.Asp159Glu) c.471C>A (p.Asp157Glu) c.423C>A (p.Asp141Glu) | dbSNP gnomAD v4 |
| 7 | g.44150966T>A | CA367401865 | GCK | c.*471A>T (n.*471A>T) c.473A>T (p.Asp158Val) n.959A>T c.476A>T (p.Asp159Val) c.470A>T (p.Asp157Val) c.422A>T (p.Asp141Val) | |
| 7 | g.44150966T>C | CA367401866 | GCK | c.*471A>G (n.*471A>G) c.473A>G (p.Asp158Gly) n.959A>G c.476A>G (p.Asp159Gly) c.470A>G (p.Asp157Gly) c.422A>G (p.Asp141Gly) | |
| 7 | g.44150966T>G | CA367401867 | GCK | c.*471A>C (n.*471A>C) c.473A>C (p.Asp158Ala) n.959A>C c.476A>C (p.Asp159Ala) c.470A>C (p.Asp157Ala) c.422A>C (p.Asp141Ala) | |
| 7 | g.44150967C>A | CA367401869 | GCK | c.*470G>T (n.*470G>T) c.472G>T (p.Asp158Tyr) n.958G>T c.475G>T (p.Asp159Tyr) c.469G>T (p.Asp157Tyr) c.421G>T (p.Asp141Tyr) | gnomAD v4 |
| 7 | g.44150967C>G | CA367401871 | GCK | c.*470G>C (n.*470G>C) c.472G>C (p.Asp158His) n.958G>C c.475G>C (p.Asp159His) c.469G>C (p.Asp157His) c.421G>C (p.Asp141His) | gnomAD v4 |
| 7 | g.44150967C>T | CA367401872 | GCK | c.*470G>A (n.*470G>A) c.472G>A (p.Asp158Asn) n.958G>A c.475G>A (p.Asp159Asn) c.469G>A (p.Asp157Asn) c.421G>A (p.Asp141Asn) | |
| 7 | g.44150968T>A | CA367401874 | GCK | c.*469A>T (n.*469A>T) c.471A>T (p.Glu157Asp) n.957A>T c.474A>T (p.Glu158Asp) c.468A>T (p.Glu156Asp) c.420A>T (p.Glu140Asp) | |
| 7 | g.44150968T>C | CA454609707 | GCK | c.*469A>G (n.*469A>G) c.471A>G (p.Glu157=) n.957A>G c.474A>G (p.Glu158=) c.468A>G (p.Glu156=) c.420A>G (p.Glu140=) | |
| 7 | g.44150968T>G | CA367401875 | GCK | c.*469A>C (n.*469A>C) c.471A>C (p.Glu157Asp) n.957A>C c.474A>C (p.Glu158Asp) c.468A>C (p.Glu156Asp) c.420A>C (p.Glu140Asp) | |
| 7 | g.44150969T>A | CA367401876 | GCK | c.*468A>T (n.*468A>T) c.470A>T (p.Glu157Val) n.956A>T c.473A>T (p.Glu158Val) c.467A>T (p.Glu156Val) c.419A>T (p.Glu140Val) | |
| 7 | g.44150969T>C | CA367401877 | GCK | c.*468A>G (n.*468A>G) c.470A>G (p.Glu157Gly) n.956A>G c.473A>G (p.Glu158Gly) c.467A>G (p.Glu156Gly) c.419A>G (p.Glu140Gly) | |
| 7 | g.44150969T>G | CA367401879 | GCK | c.*468A>C (n.*468A>C) c.470A>C (p.Glu157Ala) n.956A>C c.473A>C (p.Glu158Ala) c.467A>C (p.Glu156Ala) c.419A>C (p.Glu140Ala) | |
| 7 | g.44150970C>A | CA367401883 | GCK | c.*467G>T (n.*467G>T) c.469G>T (p.Glu157Ter) n.955G>T c.472G>T (p.Glu158Ter) c.466G>T (p.Glu156Ter) c.418G>T (p.Glu140Ter) | ClinVar |
| 7 | g.44150970C= | CA1703636439 | GCK | c.*467G= (n.*467G=) c.469G= (p.Glu157=) n.955G= c.472G= (p.Glu158=) c.466G= (p.Glu156=) c.418G= (p.Glu140=) | |
| 7 | g.44150970C>G | CA367401882 | GCK | c.*467G>C (n.*467G>C) c.469G>C (p.Glu157Gln) n.955G>C c.472G>C (p.Glu158Gln) c.466G>C (p.Glu156Gln) c.418G>C (p.Glu140Gln) | |
| 7 | g.44150970C>T | CA367401880 | GCK | c.*467G>A (n.*467G>A) c.469G>A (p.Glu157Lys) n.955G>A c.472G>A (p.Glu158Lys) c.466G>A (p.Glu156Lys) c.418G>A (p.Glu140Lys) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44150971del | CA2580077133 | GCK | c.*466del (n.*466del) c.468del (p.His156GlnfsTer?) n.954del c.471del (p.His157GlnfsTer?) c.465del (p.His155GlnfsTer?) c.417del (p.His139GlnfsTer?) | ClinVar |
| 7 | g.44150971G>A | CA4239628 | GCK | c.*466C>T (n.*466C>T) c.468C>T (p.His156=) n.954C>T c.471C>T (p.His157=) c.465C>T (p.His155=) c.417C>T (p.His139=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44150971G>C | CA367401885 | GCK | c.*466C>G (n.*466C>G) c.468C>G (p.His156Gln) n.954C>G c.471C>G (p.His157Gln) c.465C>G (p.His155Gln) c.417C>G (p.His139Gln) | COSMIC COSMIC COSMIC |
| 7 | g.44150971G= | CA1703636440 | GCK | c.*466C= (n.*466C=) c.468C= (p.His156=) n.954C= c.471C= (p.His157=) c.465C= (p.His155=) c.417C= (p.His139=) | |
| 7 | g.44150971G>T | CA367401887 | GCK | c.*466C>A (n.*466C>A) c.468C>A (p.His156Gln) n.954C>A c.471C>A (p.His157Gln) c.465C>A (p.His155Gln) c.417C>A (p.His139Gln) | |
| 7 | g.44150972T>A | CA367401888 | GCK | c.*465A>T (n.*465A>T) c.467A>T (p.His156Leu) n.953A>T c.470A>T (p.His157Leu) c.464A>T (p.His155Leu) c.416A>T (p.His139Leu) | |
| 7 | g.44150972T>C | CA367401890 | GCK | c.*465A>G (n.*465A>G) c.467A>G (p.His156Arg) n.953A>G c.470A>G (p.His157Arg) c.464A>G (p.His155Arg) c.416A>G (p.His139Arg) | |
| 7 | g.44150972T>G | CA367401891 | GCK | c.*465A>C (n.*465A>C) c.467A>C (p.His156Pro) n.953A>C c.470A>C (p.His157Pro) c.464A>C (p.His155Pro) c.416A>C (p.His139Pro) | |
| 7 | g.44150973G>A | CA367401892 | GCK | c.*464C>T (n.*464C>T) c.466C>T (p.His156Tyr) n.952C>T c.469C>T (p.His157Tyr) c.463C>T (p.His155Tyr) c.415C>T (p.His139Tyr) | ClinVar dbSNP |
| 7 | g.44150973G>C | CA367401894 | GCK | c.*464C>G (n.*464C>G) c.466C>G (p.His156Asp) n.952C>G c.469C>G (p.His157Asp) c.463C>G (p.His155Asp) c.415C>G (p.His139Asp) | ClinVar |
| 7 | g.44150973G= | CA1703636441 | GCK | c.*464C= (n.*464C=) c.466C= (p.His156=) n.952C= c.469C= (p.His157=) c.463C= (p.His155=) c.415C= (p.His139=) | |
| 7 | g.44150973G>T | CA367401895 | GCK | c.*464C>A (n.*464C>A) c.466C>A (p.His156Asn) n.952C>A c.469C>A (p.His157Asn) c.463C>A (p.His155Asn) c.415C>A (p.His139Asn) | |
| 7 | g.44150974C>A | CA367401896 | GCK | c.*463G>T (n.*463G>T) c.465G>T (p.Arg155Ser) n.951G>T c.468G>T (p.Arg156Ser) c.462G>T (p.Arg154Ser) c.414G>T (p.Arg138Ser) | ClinVar |
| 7 | g.44150974C= | CA1703636442 | GCK | c.*463G= (n.*463G=) c.465G= (p.Arg155=) n.951G= c.468G= (p.Arg156=) c.462G= (p.Arg154=) c.414G= (p.Arg138=) | |
| 7 | g.44150974C>G | CA367401898 | GCK | c.*463G>C (n.*463G>C) c.465G>C (p.Arg155Ser) n.951G>C c.468G>C (p.Arg156Ser) c.462G>C (p.Arg154Ser) c.414G>C (p.Arg138Ser) | |
| 7 | g.44150974C>T | CA4239629 | GCK | c.*463G>A (n.*463G>A) c.465G>A (p.Arg155=) n.951G>A c.468G>A (p.Arg156=) c.462G>A (p.Arg154=) c.414G>A (p.Arg138=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44150975C>A | CA367401903 | GCK | c.*462G>T (n.*462G>T) c.464G>T (p.Arg155Met) n.950G>T c.467G>T (p.Arg156Met) c.461G>T (p.Arg154Met) c.413G>T (p.Arg138Met) | |
| 7 | g.44150975C= | CA1703636443 | GCK | c.*462G= (n.*462G=) c.464G= (p.Arg155=) n.950G= c.467G= (p.Arg156=) c.461G= (p.Arg154=) c.413G= (p.Arg138=) | |
| 7 | g.44150975C>G | CA367401902 | GCK | c.*462G>C (n.*462G>C) c.464G>C (p.Arg155Thr) n.950G>C c.467G>C (p.Arg156Thr) c.461G>C (p.Arg154Thr) c.413G>C (p.Arg138Thr) | ClinVar dbSNP |
| 7 | g.44150975C>T | CA367401900 | GCK | c.*462G>A (n.*462G>A) c.464G>A (p.Arg155Lys) n.950G>A c.467G>A (p.Arg156Lys) c.461G>A (p.Arg154Lys) c.413G>A (p.Arg138Lys) | |
| 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) | ClinVar |
| 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 |
| 7 | g.44150989G>A | CA213786 | GCK | c.*448C>T (n.*448C>T) c.450C>T (p.Phe150=) n.936C>T c.453C>T (p.Phe151=) c.447C>T (p.Phe149=) c.399C>T (p.Phe133=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.44150989G>C | CA367401941 | GCK | c.*448C>G (n.*448C>G) c.450C>G (p.Phe150Leu) n.936C>G c.453C>G (p.Phe151Leu) c.447C>G (p.Phe149Leu) c.399C>G (p.Phe133Leu) | |
| 7 | g.44150989G= | CA1703636449 | GCK | c.*448C= (n.*448C=) c.450C= (p.Phe150=) n.936C= c.453C= (p.Phe151=) c.447C= (p.Phe149=) c.399C= (p.Phe133=) | |
| 7 | g.44150989G>T | CA367401942 | GCK | c.*448C>A (n.*448C>A) c.450C>A (p.Phe150Leu) n.936C>A c.453C>A (p.Phe151Leu) c.447C>A (p.Phe149Leu) c.399C>A (p.Phe133Leu) | ClinVar COSMIC COSMIC COSMIC |
| 7 | g.44150990A= | CA1703636450 | GCK | c.*447T= (n.*447T=) c.449T= (p.Phe150=) n.935T= c.452T= (p.Phe151=) c.446T= (p.Phe149=) c.398T= (p.Phe133=) | |
| 7 | g.44150990A>C | CA367401943 | GCK | c.*447T>G (n.*447T>G) c.449T>G (p.Phe150Cys) n.935T>G c.452T>G (p.Phe151Cys) c.446T>G (p.Phe149Cys) c.398T>G (p.Phe133Cys) | |
| 7 | g.44150990A>G | CA213784 | GCK | c.*447T>C (n.*447T>C) c.449T>C (p.Phe150Ser) n.935T>C c.452T>C (p.Phe151Ser) c.446T>C (p.Phe149Ser) c.398T>C (p.Phe133Ser) | ClinVar dbSNP gnomAD v4 |
| 7 | g.44150990A>T | CA231135 | GCK | c.*447T>A (n.*447T>A) c.449T>A (p.Phe150Tyr) n.935T>A c.452T>A (p.Phe151Tyr) c.446T>A (p.Phe149Tyr) c.398T>A (p.Phe133Tyr) | ClinVar dbSNP |
| 7 | g.44150991A>C | CA367401949 | GCK | c.*446T>G (n.*446T>G) c.448T>G (p.Phe150Val) n.934T>G c.451T>G (p.Phe151Val) c.445T>G (p.Phe149Val) c.397T>G (p.Phe133Val) | COSMIC COSMIC COSMIC |
| 7 | g.44150991A>G | CA367401948 | GCK | c.*446T>C (n.*446T>C) c.448T>C (p.Phe150Leu) n.934T>C c.451T>C (p.Phe151Leu) c.445T>C (p.Phe149Leu) c.397T>C (p.Phe133Leu) | gnomAD v4 |
| 7 | g.44150991A>T | CA367401946 | GCK | c.*446T>A (n.*446T>A) c.448T>A (p.Phe150Ile) n.934T>A c.451T>A (p.Phe151Ile) c.445T>A (p.Phe149Ile) c.397T>A (p.Phe133Ile) | |
| 7 | g.44150992G>A | CA4239631 | GCK | c.*445C>T (n.*445C>T) c.447C>T (p.Thr149=) n.933C>T c.450C>T (p.Thr150=) c.444C>T (p.Thr148=) c.396C>T (p.Thr132=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44150992G>C | CA454609780 | GCK | c.*445C>G (n.*445C>G) c.447C>G (p.Thr149=) n.933C>G c.450C>G (p.Thr150=) c.444C>G (p.Thr148=) c.396C>G (p.Thr132=) | |
| 7 | g.44150992G= | CA1703636451 | GCK | c.*445C= (n.*445C=) c.447C= (p.Thr149=) n.933C= c.450C= (p.Thr150=) c.444C= (p.Thr148=) c.396C= (p.Thr132=) | |
| 7 | g.44150992G>T | CA454609781 | GCK | c.*445C>A (n.*445C>A) c.447C>A (p.Thr149=) n.933C>A c.450C>A (p.Thr150=) c.444C>A (p.Thr148=) c.396C>A (p.Thr132=) | |
| 7 | g.44150993G>A | CA367401951 | GCK | c.*444C>T (n.*444C>T) c.446C>T (p.Thr149Ile) n.932C>T c.449C>T (p.Thr150Ile) c.443C>T (p.Thr148Ile) c.395C>T (p.Thr132Ile) | dbSNP |
| 7 | g.44150993G>C | CA367401952 | GCK | c.*444C>G (n.*444C>G) c.446C>G (p.Thr149Ser) n.932C>G c.449C>G (p.Thr150Ser) c.443C>G (p.Thr148Ser) c.395C>G (p.Thr132Ser) | |
| 7 | g.44150993G>T | CA367401954 | GCK | c.*444C>A (n.*444C>A) c.446C>A (p.Thr149Asn) n.932C>A c.449C>A (p.Thr150Asn) c.443C>A (p.Thr148Asn) c.395C>A (p.Thr132Asn) | |
| 7 | g.44150994T>A | CA367401955 | GCK | c.*443A>T (n.*443A>T) c.445A>T (p.Thr149Ser) n.931A>T c.448A>T (p.Thr150Ser) c.442A>T (p.Thr148Ser) c.394A>T (p.Thr132Ser) | |
| 7 | g.44150994T>C | CA367401956 | GCK | c.*443A>G (n.*443A>G) c.445A>G (p.Thr149Ala) n.931A>G c.448A>G (p.Thr150Ala) c.442A>G (p.Thr148Ala) c.394A>G (p.Thr132Ala) | |
| 7 | g.44150994T>G | CA367401958 | GCK | c.*443A>C (n.*443A>C) c.445A>C (p.Thr149Pro) n.931A>C c.448A>C (p.Thr150Pro) c.442A>C (p.Thr148Pro) c.394A>C (p.Thr132Pro) | |
| 7 | g.44150994dup | CA2580077137 | GCK | c.*443dup (n.*443dup) c.445dup (p.Thr149AsnfsTer13) n.931dup c.448dup (p.Thr150AsnfsTer13) c.442dup (p.Thr148AsnfsTer13) c.394dup (p.Thr132AsnfsTer13) | ClinVar |
| 7 | g.44150995G>A | CA157918138 | GCK | c.*442C>T (n.*442C>T) c.444C>T (p.Phe148=) n.930C>T c.447C>T (p.Phe149=) c.441C>T (p.Phe147=) c.393C>T (p.Phe131=) | dbSNP |
| 7 | g.44150995G>C | CA367401960 | GCK | c.*442C>G (n.*442C>G) c.444C>G (p.Phe148Leu) n.930C>G c.447C>G (p.Phe149Leu) c.441C>G (p.Phe147Leu) c.393C>G (p.Phe131Leu) | |
| 7 | g.44150995G= | CA1703636452 | GCK | c.*442C= (n.*442C=) c.444C= (p.Phe148=) n.930C= c.447C= (p.Phe149=) c.441C= (p.Phe147=) c.393C= (p.Phe131=) | |
| 7 | g.44150995G>T | CA367401961 | GCK | c.*442C>A (n.*442C>A) c.444C>A (p.Phe148Leu) n.930C>A c.447C>A (p.Phe149Leu) c.441C>A (p.Phe147Leu) c.393C>A (p.Phe131Leu) | |
| 7 | g.44150996A>C | CA367401962 | GCK | c.*441T>G (n.*441T>G) c.443T>G (p.Phe148Cys) n.929T>G c.446T>G (p.Phe149Cys) c.440T>G (p.Phe147Cys) c.392T>G (p.Phe131Cys) | |
| 7 | g.44150996A>G | CA367401964 | GCK | c.*441T>C (n.*441T>C) c.443T>C (p.Phe148Ser) n.929T>C c.446T>C (p.Phe149Ser) c.440T>C (p.Phe147Ser) c.392T>C (p.Phe131Ser) | ClinVar |
| 7 | g.44150996A>T | CA367401965 | GCK | c.*441T>A (n.*441T>A) c.443T>A (p.Phe148Tyr) n.929T>A c.446T>A (p.Phe149Tyr) c.440T>A (p.Phe147Tyr) c.392T>A (p.Phe131Tyr) | |
| 7 | g.44150997A= | CA1703636453 | GCK | c.*440T= (n.*440T=) c.442T= (p.Phe148=) n.928T= c.445T= (p.Phe149=) c.439T= (p.Phe147=) c.391T= (p.Phe131=) | |
| 7 | g.44150997A>C | CA367401969 | GCK | c.*440T>G (n.*440T>G) c.442T>G (p.Phe148Val) n.928T>G c.445T>G (p.Phe149Val) c.439T>G (p.Phe147Val) c.391T>G (p.Phe131Val) | |
| 7 | g.44150997A>G | CA367401968 | GCK | c.*440T>C (n.*440T>C) c.442T>C (p.Phe148Leu) n.928T>C c.445T>C (p.Phe149Leu) c.439T>C (p.Phe147Leu) c.391T>C (p.Phe131Leu) | gnomAD v4 |
| 7 | g.44150997A>T | CA367401967 | GCK | c.*440T>A (n.*440T>A) c.442T>A (p.Phe148Ile) n.928T>A c.445T>A (p.Phe149Ile) c.439T>A (p.Phe147Ile) c.391T>A (p.Phe131Ile) | ClinVar dbSNP |
| 7 | g.44150998G>A | CA454609795 | GCK | c.*439C>T (n.*439C>T) c.441C>T (p.Gly147=) n.927C>T c.444C>T (p.Gly148=) c.438C>T (p.Gly146=) c.390C>T (p.Gly130=) | |
| 7 | g.44150998G>C | CA454609797 | GCK | c.*439C>G (n.*439C>G) c.441C>G (p.Gly147=) n.927C>G c.444C>G (p.Gly148=) c.438C>G (p.Gly146=) c.390C>G (p.Gly130=) | |
| 7 | g.44150998G>T | CA454609798 | GCK | c.*439C>A (n.*439C>A) c.441C>A (p.Gly147=) n.927C>A c.444C>A (p.Gly148=) c.438C>A (p.Gly146=) c.390C>A (p.Gly130=) | gnomAD v4 |
| 7 | g.44150998_44150999delinsGC | CA1703636454 | GCK | c.*438_*439delinsGC (n.*438_*439delinsGC) c.440_441delinsGC (p.Gly147=) n.926_927delinsGC c.443_444delinsGC (p.Gly148=) c.437_438delinsGC (p.Gly146=) c.389_390delinsGC (p.Gly130=) | |
| 7 | g.44150999C>A | CA367401970 | GCK | c.*438G>T (n.*438G>T) c.440G>T (p.Gly147Val) n.926G>T c.443G>T (p.Gly148Val) c.437G>T (p.Gly146Val) c.389G>T (p.Gly130Val) | |
| 7 | g.44150999C= | CA1703636455 | GCK | c.*438G= (n.*438G=) c.440G= (p.Gly147=) n.926G= c.443G= (p.Gly148=) c.437G= (p.Gly146=) c.389G= (p.Gly130=) | |
| 7 | g.44150999C>G | CA367401971 | GCK | c.*438G>C (n.*438G>C) c.440G>C (p.Gly147Ala) n.926G>C c.443G>C (p.Gly148Ala) c.437G>C (p.Gly146Ala) c.389G>C (p.Gly130Ala) | |
| 7 | g.44150999C>T | CA213782 | GCK | c.*438G>A (n.*438G>A) c.440G>A (p.Gly147Asp) n.926G>A c.443G>A (p.Gly148Asp) c.437G>A (p.Gly146Asp) c.389G>A (p.Gly130Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44151001del | CA658655970 | GCK | c.*438del (n.*438del) c.440del (p.Gly147AlafsTer8) n.926del c.443del (p.Gly148AlafsTer8) c.437del (p.Gly146AlafsTer8) c.389del (p.Gly130AlafsTer8) | ClinVar dbSNP |
| 7 | g.44151000C>A | CA367401973 | GCK | c.*437G>T (n.*437G>T) c.439G>T (p.Gly147Cys) n.925G>T c.442G>T (p.Gly148Cys) c.436G>T (p.Gly146Cys) c.388G>T (p.Gly130Cys) | COSMIC COSMIC COSMIC |
| 7 | g.44151000C>G | CA367401974 | GCK | c.*437G>C (n.*437G>C) c.439G>C (p.Gly147Arg) n.925G>C c.442G>C (p.Gly148Arg) c.436G>C (p.Gly146Arg) c.388G>C (p.Gly130Arg) | |
| 7 | g.44151000C>T | CA367401975 | GCK | c.*437G>A (n.*437G>A) c.439G>A (p.Gly147Ser) n.925G>A c.442G>A (p.Gly148Ser) c.436G>A (p.Gly146Ser) c.388G>A (p.Gly130Ser) | gnomAD v4 |
| 7 | g.44151001C>A | CA454609802 | GCK | c.*436G>T (n.*436G>T) c.438G>T (p.Leu146=) n.924G>T c.441G>T (p.Leu147=) c.435G>T (p.Leu145=) c.387G>T (p.Leu129=) | |
| 7 | g.44151001C= | CA1703636456 | GCK | c.*436G= (n.*436G=) c.438G= (p.Leu146=) n.924G= c.441G= (p.Leu147=) c.435G= (p.Leu145=) c.387G= (p.Leu129=) | |
| 7 | g.44151001C>G | CA454609803 | GCK | c.*436G>C (n.*436G>C) c.438G>C (p.Leu146=) n.924G>C c.441G>C (p.Leu147=) c.435G>C (p.Leu145=) c.387G>C (p.Leu129=) | |
| 7 | g.44151001C>T | CA454609804 | GCK | c.*436G>A (n.*436G>A) c.438G>A (p.Leu146=) n.924G>A c.441G>A (p.Leu147=) c.435G>A (p.Leu145=) c.387G>A (p.Leu129=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44151002del | CA2695202962 | GCK | c.*435del (n.*435del) c.437del (p.Leu146ArgfsTer9) n.923del c.440del (p.Leu147ArgfsTer9) c.434del (p.Leu145ArgfsTer9) c.386del (p.Leu129ArgfsTer9) | |
| 7 | g.44151002A= | CA1703636457 | GCK | c.*435T= (n.*435T=) c.437T= (p.Leu146=) n.923T= c.440T= (p.Leu147=) c.434T= (p.Leu145=) c.386T= (p.Leu129=) | |
| 7 | g.44151002A>C | CA367401977 | GCK | c.*435T>G (n.*435T>G) c.437T>G (p.Leu146Arg) n.923T>G c.440T>G (p.Leu147Arg) c.434T>G (p.Leu145Arg) c.386T>G (p.Leu129Arg) | ClinVar |
| 7 | g.44151002A>G | CA367401978 | GCK | c.*435T>C (n.*435T>C) c.437T>C (p.Leu146Pro) n.923T>C c.440T>C (p.Leu147Pro) c.434T>C (p.Leu145Pro) c.386T>C (p.Leu129Pro) | ClinVar dbSNP |
| 7 | g.44151002A>T | CA367401980 | GCK | c.*435T>A (n.*435T>A) c.437T>A (p.Leu146Gln) n.923T>A c.440T>A (p.Leu147Gln) c.434T>A (p.Leu145Gln) c.386T>A (p.Leu129Gln) | |
| 7 | g.44151003G>A | CA454609808 | GCK | c.*434C>T (n.*434C>T) c.436C>T (p.Leu146=) n.922C>T c.439C>T (p.Leu147=) c.433C>T (p.Leu145=) c.385C>T (p.Leu129=) | gnomAD v4 |
| 7 | g.44151003G>C | CA367401981 | GCK | c.*434C>G (n.*434C>G) c.436C>G (p.Leu146Val) n.922C>G c.439C>G (p.Leu147Val) c.433C>G (p.Leu145Val) c.385C>G (p.Leu129Val) | |
| 7 | g.44151003G>T | CA367401982 | GCK | c.*434C>A (n.*434C>A) c.436C>A (p.Leu146Met) n.922C>A c.439C>A (p.Leu147Met) c.433C>A (p.Leu145Met) c.385C>A (p.Leu129Met) | COSMIC COSMIC COSMIC |
| 7 | g.44151005_44151006dup | CA16618469 | GCK | c.*433_*434dup (n.*433_*434dup) c.435_436dup (p.Leu146ProfsTer10) n.921_922dup c.438_439dup (p.Leu147ProfsTer10) c.432_433dup (p.Leu145ProfsTer10) c.384_385dup (p.Leu129ProfsTer10) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44151004G>A | CA4239633 | GCK | c.*433C>T (n.*433C>T) c.435C>T (p.Pro145=) n.921C>T c.438C>T (p.Pro146=) c.432C>T (p.Pro144=) c.384C>T (p.Pro128=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44151004G>C | CA4239632 | GCK | c.*433C>G (n.*433C>G) c.435C>G (p.Pro145=) n.921C>G c.438C>G (p.Pro146=) c.432C>G (p.Pro144=) c.384C>G (p.Pro128=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44151004G= | CA1703636458 | GCK | c.*433C= (n.*433C=) c.435C= (p.Pro145=) n.921C= c.438C= (p.Pro146=) c.432C= (p.Pro144=) c.384C= (p.Pro128=) | |
| 7 | g.44151004G>T | CA454609811 | GCK | c.*433C>A (n.*433C>A) c.435C>A (p.Pro145=) n.921C>A c.438C>A (p.Pro146=) c.432C>A (p.Pro144=) c.384C>A (p.Pro128=) | |
| 7 | g.44151005G>A | CA367401987 | GCK | c.*432C>T (n.*432C>T) c.434C>T (p.Pro145Leu) n.920C>T c.437C>T (p.Pro146Leu) c.431C>T (p.Pro144Leu) c.383C>T (p.Pro128Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44151005G>C | CA367401988 | GCK | c.*432C>G (n.*432C>G) c.434C>G (p.Pro145Arg) n.920C>G c.437C>G (p.Pro146Arg) c.431C>G (p.Pro144Arg) c.383C>G (p.Pro128Arg) | |
| 7 | g.44151005G= | CA1703636459 | GCK | c.*432C= (n.*432C=) c.434C= (p.Pro145=) n.920C= c.437C= (p.Pro146=) c.431C= (p.Pro144=) c.383C= (p.Pro128=) | |
| 7 | g.44151005G>T | CA367401986 | GCK | c.*432C>A (n.*432C>A) c.434C>A (p.Pro145His) n.920C>A c.437C>A (p.Pro146His) c.431C>A (p.Pro144His) c.383C>A (p.Pro128His) | |
| 7 | g.44151006G>A | CA4239634 | GCK | c.*431C>T (n.*431C>T) c.433C>T (p.Pro145Ser) n.919C>T c.436C>T (p.Pro146Ser) c.430C>T (p.Pro144Ser) c.382C>T (p.Pro128Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44151006G>C | CA367401990 | GCK | c.*431C>G (n.*431C>G) c.433C>G (p.Pro145Ala) n.919C>G c.436C>G (p.Pro146Ala) c.430C>G (p.Pro144Ala) c.382C>G (p.Pro128Ala) | |
| 7 | g.44151006G= | CA1703636460 | GCK | c.*431C= (n.*431C=) c.433C= (p.Pro145=) n.919C= c.436C= (p.Pro146=) c.430C= (p.Pro144=) c.382C= (p.Pro128=) | |
| 7 | g.44151006G>T | CA367401992 | GCK | c.*431C>A (n.*431C>A) c.433C>A (p.Pro145Thr) n.919C>A c.436C>A (p.Pro146Thr) c.430C>A (p.Pro144Thr) c.382C>A (p.Pro128Thr) | |
| 7 | g.44151007C>A | CA454609812 | GCK | c.*430G>T (n.*430G>T) c.432G>T (p.Leu144=) n.918G>T c.435G>T (p.Leu145=) c.429G>T (p.Leu143=) c.381G>T (p.Leu127=) | ClinVar dbSNP |
| 7 | g.44151007C= | CA1703636462 | GCK | c.*430G= (n.*430G=) c.432G= (p.Leu144=) n.918G= c.435G= (p.Leu145=) c.429G= (p.Leu143=) c.381G= (p.Leu127=) | |
| 7 | g.44151007C>G | CA454609814 | GCK | c.*430G>C (n.*430G>C) c.432G>C (p.Leu144=) n.918G>C c.435G>C (p.Leu145=) c.429G>C (p.Leu143=) c.381G>C (p.Leu127=) | |
| 7 | g.44151007C>T | CA454609815 | GCK | c.*430G>A (n.*430G>A) c.432G>A (p.Leu144=) n.918G>A c.435G>A (p.Leu145=) c.429G>A (p.Leu143=) c.381G>A (p.Leu127=) | |
| 7 | g.44151007_44151008delinsAG | CA2695202965 | GCK | c.*429_*430delinsCT (n.*429_*430delinsCT) c.431_432delinsCT (p.Leu144Pro) n.917_918delinsCT c.434_435delinsCT (p.Leu145Pro) c.428_429delinsCT (p.Leu143Pro) c.380_381delinsCT (p.Leu127Pro) | ClinVar |
| 7 | g.44151007_44151008delinsCA | CA1703636461 | GCK | c.*429_*430delinsTG (n.*429_*430delinsTG) c.431_432delinsTG (p.Leu144=) n.917_918delinsTG c.434_435delinsTG (p.Leu145=) c.428_429delinsTG (p.Leu143=) c.380_381delinsTG (p.Leu127=) | |
| 7 | g.44151008del | CA16618470 | GCK | c.*429del (n.*429del) c.431del (p.Leu144ArgfsTer11) n.917del c.434del (p.Leu145ArgfsTer11) c.428del (p.Leu143ArgfsTer11) c.380del (p.Leu127ArgfsTer11) | ClinVar dbSNP |
| 7 | g.44151008A= | CA1703636463 | GCK | c.*429T= (n.*429T=) c.431T= (p.Leu144=) n.917T= c.434T= (p.Leu145=) c.428T= (p.Leu143=) c.380T= (p.Leu127=) | |
| 7 | g.44151008A>C | CA367401993 | GCK | c.*429T>G (n.*429T>G) c.431T>G (p.Leu144Arg) n.917T>G c.434T>G (p.Leu145Arg) c.428T>G (p.Leu143Arg) c.380T>G (p.Leu127Arg) | |
| 7 | g.44151008A>G | CA367401995 | GCK | c.*429T>C (n.*429T>C) c.431T>C (p.Leu144Pro) n.917T>C c.434T>C (p.Leu145Pro) c.428T>C (p.Leu143Pro) c.380T>C (p.Leu127Pro) | ClinVar dbSNP |
| 7 | g.44151008A>T | CA367401997 | GCK | c.*429T>A (n.*429T>A) c.431T>A (p.Leu144Gln) n.917T>A c.434T>A (p.Leu145Gln) c.428T>A (p.Leu143Gln) c.380T>A (p.Leu127Gln) | |
| 7 | g.44151009G>A | CA454609819 | GCK | c.*428C>T (n.*428C>T) c.430C>T (p.Leu144=) n.916C>T c.433C>T (p.Leu145=) c.427C>T (p.Leu143=) c.379C>T (p.Leu127=) | COSMIC COSMIC COSMIC |
| 7 | g.44151009G>C | CA367401998 | GCK | c.*428C>G (n.*428C>G) c.430C>G (p.Leu144Val) n.916C>G c.433C>G (p.Leu145Val) c.427C>G (p.Leu143Val) c.379C>G (p.Leu127Val) | ClinVar |
| 7 | g.44151009G>T | CA367402000 | GCK | c.*428C>A (n.*428C>A) c.430C>A (p.Leu144Met) n.916C>A c.433C>A (p.Leu145Met) c.427C>A (p.Leu143Met) c.379C>A (p.Leu127Met) | |
| 7 | g.44151010C>A | CA367402001 | GCK | c.*427G>T (n.*427G>T) c.429G>T (p.Lys143Asn) n.915G>T c.432G>T (p.Lys144Asn) c.426G>T (p.Lys142Asn) c.378G>T (p.Lys126Asn) | ClinVar gnomAD v4 |
| 7 | g.44151010C= | CA1703636464 | GCK | c.*427G= (n.*427G=) c.429G= (p.Lys143=) n.915G= c.432G= (p.Lys144=) c.426G= (p.Lys142=) c.378G= (p.Lys126=) | |
| 7 | g.44151010C>G | CA367402002 | GCK | c.*427G>C (n.*427G>C) c.429G>C (p.Lys143Asn) n.915G>C c.432G>C (p.Lys144Asn) c.426G>C (p.Lys142Asn) c.378G>C (p.Lys126Asn) | |
| 7 | g.44151010C>T | CA454609820 | GCK | c.*427G>A (n.*427G>A) c.429G>A (p.Lys143=) n.915G>A c.432G>A (p.Lys144=) c.426G>A (p.Lys142=) c.378G>A (p.Lys126=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.44151013_44151015del | CA2695202966 | GCK | c.*425_*427del (n.*425_*427del) c.427_429del (p.Lys143del) n.913_915del c.430_432del (p.Lys144del) c.424_426del (p.Lys142del) c.376_378del (p.Lys126del) | |
| 7 | g.44151011T>A | CA367402004 | GCK | c.*426A>T (n.*426A>T) c.428A>T (p.Lys143Met) n.914A>T c.431A>T (p.Lys144Met) c.425A>T (p.Lys142Met) c.377A>T (p.Lys126Met) | |
| 7 | g.44151011T>C | CA367402006 | GCK | c.*426A>G (n.*426A>G) c.428A>G (p.Lys143Arg) n.914A>G c.431A>G (p.Lys144Arg) c.425A>G (p.Lys142Arg) c.377A>G (p.Lys126Arg) | |
| 7 | g.44151011T>G | CA367402007 | GCK | c.*426A>C (n.*426A>C) c.428A>C (p.Lys143Thr) n.914A>C c.431A>C (p.Lys144Thr) c.425A>C (p.Lys142Thr) c.377A>C (p.Lys126Thr) | |
| 7 | g.44151011_44151012delinsAG | CA658655971 | GCK | c.*425_*426delinsCT (n.*425_*426delinsCT) c.427_428delinsCT (p.Lys143Leu) n.913_914delinsCT c.430_431delinsCT (p.Lys144Leu) c.424_425delinsCT (p.Lys142Leu) c.376_377delinsCT (p.Lys126Leu) | ClinVar dbSNP |
| 7 | g.44151011_44151012delinsTT | CA1703636465 | GCK | c.*425_*426delinsAA (n.*425_*426delinsAA) c.427_428delinsAA (p.Lys143=) n.913_914delinsAA c.430_431delinsAA (p.Lys144=) c.424_425delinsAA (p.Lys142=) c.376_377delinsAA (p.Lys126=) | |
| 7 | g.44151012T>A | CA367402011 | GCK | c.*425A>T (n.*425A>T) c.427A>T (p.Lys143Ter) n.913A>T c.430A>T (p.Lys144Ter) c.424A>T (p.Lys142Ter) c.376A>T (p.Lys126Ter) | |
| 7 | g.44151012T>C | CA367402010 | GCK | c.*425A>G (n.*425A>G) c.427A>G (p.Lys143Glu) n.913A>G c.430A>G (p.Lys144Glu) c.424A>G (p.Lys142Glu) c.376A>G (p.Lys126Glu) | |
| 7 | g.44151012T>G | CA367402009 | GCK | c.*425A>C (n.*425A>C) c.427A>C (p.Lys143Gln) n.913A>C c.430A>C (p.Lys144Gln) c.424A>C (p.Lys142Gln) c.376A>C (p.Lys126Gln) | |
| 7 | g.44151013C>A | CA367402013 | GCK | c.*424G>T (n.*424G>T) c.426G>T (p.Lys142Asn) n.912G>T c.429G>T (p.Lys143Asn) c.423G>T (p.Lys141Asn) c.375G>T (p.Lys125Asn) | |
| 7 | g.44151013C>G | CA367402015 | GCK | c.*424G>C (n.*424G>C) c.426G>C (p.Lys142Asn) n.912G>C c.429G>C (p.Lys143Asn) c.423G>C (p.Lys141Asn) c.375G>C (p.Lys125Asn) | |
| 7 | g.44151013C>T | CA454609822 | GCK | c.*424G>A (n.*424G>A) c.426G>A (p.Lys142=) n.912G>A c.429G>A (p.Lys143=) c.423G>A (p.Lys141=) c.375G>A (p.Lys125=) | gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44151014T>A | CA367402016 | GCK | c.*423A>T (n.*423A>T) c.425A>T (p.Lys142Met) n.911A>T c.428A>T (p.Lys143Met) c.422A>T (p.Lys141Met) c.374A>T (p.Lys125Met) | |
| 7 | g.44151014T>C | CA367402018 | GCK | c.*423A>G (n.*423A>G) c.425A>G (p.Lys142Arg) n.911A>G c.428A>G (p.Lys143Arg) c.422A>G (p.Lys141Arg) c.374A>G (p.Lys125Arg) | |
| 7 | g.44151014T>G | CA367402019 | GCK | c.*423A>C (n.*423A>C) c.425A>C (p.Lys142Thr) n.911A>C c.428A>C (p.Lys143Thr) c.422A>C (p.Lys141Thr) c.374A>C (p.Lys125Thr) | |
| 7 | g.44151015T>A | CA367402020 | GCK | c.*422A>T (n.*422A>T) c.424A>T (p.Lys142Ter) n.910A>T c.427A>T (p.Lys143Ter) c.421A>T (p.Lys141Ter) c.373A>T (p.Lys125Ter) | |
| 7 | g.44151015T>C | CA367402021 | GCK | c.*422A>G (n.*422A>G) c.424A>G (p.Lys142Glu) n.910A>G c.427A>G (p.Lys143Glu) c.421A>G (p.Lys141Glu) c.373A>G (p.Lys125Glu) | |
| 7 | g.44151015T>G | CA367402022 | GCK | c.*422A>C (n.*422A>C) c.424A>C (p.Lys142Gln) n.910A>C c.427A>C (p.Lys143Gln) c.421A>C (p.Lys141Gln) c.373A>C (p.Lys125Gln) | |
| 7 | g.44151018_44151019del | CA2695202967 | GCK | c.*421_*422del (n.*421_*422del) c.423_424del (p.His141GlnfsTer20) n.909_910del c.426_427del (p.His142GlnfsTer20) c.420_421del (p.His140GlnfsTer20) c.372_373del (p.His124GlnfsTer20) | |
| 7 | g.44151016del | CA2695202968 | GCK | c.*421del (n.*421del) c.423del (p.His141GlnfsTer14) n.909del c.426del (p.His142GlnfsTer14) c.420del (p.His140GlnfsTer14) c.372del (p.His124GlnfsTer14) | |
| 7 | g.44151016G>A | CA454609827 | GCK | c.*421C>T (n.*421C>T) c.423C>T (p.His141=) n.909C>T c.426C>T (p.His142=) c.420C>T (p.His140=) c.372C>T (p.His124=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44151016G>C | CA367402023 | GCK | c.*421C>G (n.*421C>G) c.423C>G (p.His141Gln) n.909C>G c.426C>G (p.His142Gln) c.420C>G (p.His140Gln) c.372C>G (p.His124Gln) | |
| 7 | g.44151016G= | CA1703636466 | GCK | c.*421C= (n.*421C=) c.423C= (p.His141=) n.909C= c.426C= (p.His142=) c.420C= (p.His140=) c.372C= (p.His124=) | |
| 7 | g.44151016G>T | CA367402025 | GCK | c.*421C>A (n.*421C>A) c.423C>A (p.His141Gln) n.909C>A c.426C>A (p.His142Gln) c.420C>A (p.His140Gln) c.372C>A (p.His124Gln) | ClinVar dbSNP |
| 7 | g.44151017T>A | CA367402027 | GCK | c.*420A>T (n.*420A>T) c.422A>T (p.His141Leu) n.908A>T c.425A>T (p.His142Leu) c.419A>T (p.His140Leu) c.371A>T (p.His124Leu) | |
| 7 | g.44151017T>C | CA367402028 | GCK | c.*420A>G (n.*420A>G) c.422A>G (p.His141Arg) n.908A>G c.425A>G (p.His142Arg) c.419A>G (p.His140Arg) c.371A>G (p.His124Arg) | gnomAD v4 COSMIC COSMIC |
| 7 | g.44151017T>G | CA367402030 | GCK | c.*420A>C (n.*420A>C) c.422A>C (p.His141Pro) n.908A>C c.425A>C (p.His142Pro) c.419A>C (p.His140Pro) c.371A>C (p.His124Pro) | ClinVar dbSNP |
| 7 | g.44151018G>A | CA367402032 | GCK | c.*419C>T (n.*419C>T) c.421C>T (p.His141Tyr) n.907C>T c.424C>T (p.His142Tyr) c.418C>T (p.His140Tyr) c.370C>T (p.His124Tyr) | |
| 7 | g.44151018G>C | CA367402034 | GCK | c.*419C>G (n.*419C>G) c.421C>G (p.His141Asp) n.907C>G c.424C>G (p.His142Asp) c.418C>G (p.His140Asp) c.370C>G (p.His124Asp) | |
| 7 | g.44151018G>T | CA367402031 | GCK | c.*419C>A (n.*419C>A) c.421C>A (p.His141Asn) n.907C>A c.424C>A (p.His142Asn) c.418C>A (p.His140Asn) c.370C>A (p.His124Asn) | |
| 7 | g.44151019T>A | CA367402035 | GCK | c.*418A>T (n.*418A>T) c.420A>T (p.Lys140Asn) n.906A>T c.423A>T (p.Lys141Asn) c.417A>T (p.Lys139Asn) c.369A>T (p.Lys123Asn) | |
| 7 | g.44151019T>C | CA454609830 | GCK | c.*418A>G (n.*418A>G) c.420A>G (p.Lys140=) n.906A>G c.423A>G (p.Lys141=) c.417A>G (p.Lys139=) c.369A>G (p.Lys123=) | dbSNP |
| 7 | g.44151019T>G | CA367402037 | GCK | c.*418A>C (n.*418A>C) c.420A>C (p.Lys140Asn) n.906A>C c.423A>C (p.Lys141Asn) c.417A>C (p.Lys139Asn) c.369A>C (p.Lys123Asn) | |
| 7 | g.44151020T>A | CA367402038 | GCK | c.*417A>T (n.*417A>T) c.419A>T (p.Lys140Ile) n.905A>T c.422A>T (p.Lys141Ile) c.416A>T (p.Lys139Ile) c.368A>T (p.Lys123Ile) | |
| 7 | g.44151020T>C | CA367402040 | GCK | c.*417A>G (n.*417A>G) c.419A>G (p.Lys140Arg) n.905A>G c.422A>G (p.Lys141Arg) c.416A>G (p.Lys139Arg) c.368A>G (p.Lys123Arg) | |
| 7 | g.44151020T>G | CA367402041 | GCK | c.*417A>C (n.*417A>C) c.419A>C (p.Lys140Thr) n.905A>C c.422A>C (p.Lys141Thr) c.416A>C (p.Lys139Thr) c.368A>C (p.Lys123Thr) | |
| 7 | g.44151021T>A | CA367402042 | GCK | c.*416A>T (n.*416A>T) c.418A>T (p.Lys140Ter) n.904A>T c.421A>T (p.Lys141Ter) c.415A>T (p.Lys139Ter) c.367A>T (p.Lys123Ter) | |
| 7 | g.44151021T>C | CA367402044 | GCK | c.*416A>G (n.*416A>G) c.418A>G (p.Lys140Glu) n.904A>G c.421A>G (p.Lys141Glu) c.415A>G (p.Lys139Glu) c.367A>G (p.Lys123Glu) | |
| 7 | g.44151021T>G | CA367402046 | GCK | c.*416A>C (n.*416A>C) c.418A>C (p.Lys140Gln) n.904A>C c.421A>C (p.Lys141Gln) c.415A>C (p.Lys139Gln) c.367A>C (p.Lys123Gln) | |
| 7 | g.44151022C>A | CA367402047 | GCK | c.*415G>T (n.*415G>T) c.417G>T (p.Met139Ile) n.903G>T c.420G>T (p.Met140Ile) c.414G>T (p.Met138Ile) c.366G>T (p.Met122Ile) | |
| 7 | g.44151022C>G | CA367402048 | GCK | c.*415G>C (n.*415G>C) c.417G>C (p.Met139Ile) n.903G>C c.420G>C (p.Met140Ile) c.414G>C (p.Met138Ile) c.366G>C (p.Met122Ile) | |
| 7 | g.44151022C>T | CA367402050 | GCK | c.*415G>A (n.*415G>A) c.417G>A (p.Met139Ile) n.903G>A c.420G>A (p.Met140Ile) c.414G>A (p.Met138Ile) c.366G>A (p.Met122Ile) | |
| 7 | g.44151023A>C | CA367402054 | GCK | c.*414T>G (n.*414T>G) c.416T>G (p.Met139Arg) n.902T>G c.419T>G (p.Met140Arg) c.413T>G (p.Met138Arg) c.365T>G (p.Met122Arg) | |
| 7 | g.44151023A>G | CA367402053 | GCK | c.*414T>C (n.*414T>C) c.416T>C (p.Met139Thr) n.902T>C c.419T>C (p.Met140Thr) c.413T>C (p.Met138Thr) c.365T>C (p.Met122Thr) | |
| 7 | g.44151023A>T | CA367402051 | GCK | c.*414T>A (n.*414T>A) c.416T>A (p.Met139Lys) n.902T>A c.419T>A (p.Met140Lys) c.413T>A (p.Met138Lys) c.365T>A (p.Met122Lys) | |
| 7 | g.44151024T>A | CA4239635 | GCK | c.*413A>T (n.*413A>T) c.415A>T (p.Met139Leu) n.901A>T c.418A>T (p.Met140Leu) c.412A>T (p.Met138Leu) c.364A>T (p.Met122Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44151024T>C | CA367402056 | GCK | c.*413A>G (n.*413A>G) c.415A>G (p.Met139Val) n.901A>G c.418A>G (p.Met140Val) c.412A>G (p.Met138Val) c.364A>G (p.Met122Val) | |
| 7 | g.44151024T>G | CA367402058 | GCK | c.*413A>C (n.*413A>C) c.415A>C (p.Met139Leu) n.901A>C c.418A>C (p.Met140Leu) c.412A>C (p.Met138Leu) c.364A>C (p.Met122Leu) | |
| 7 | g.44151024T= | CA1703636467 | GCK | c.*413A= (n.*413A=) c.415A= (p.Met139=) n.901A= c.418A= (p.Met140=) c.412A= (p.Met138=) c.364A= (p.Met122=) | |
| 7 | g.44151025C>A | CA367402060 | GCK | c.*412G>T (n.*412G>T) c.414G>T (p.Gln138His) n.900G>T c.417G>T (p.Gln139His) c.411G>T (p.Gln137His) c.364-1G>T (n.364-1G>T) | COSMIC COSMIC COSMIC |
| 7 | g.44151025C= | CA1703636468 | GCK | c.*412G= (n.*412G=) c.414G= (p.Gln138=) n.900G= c.417G= (p.Gln139=) c.411G= (p.Gln137=) c.364-1G= (n.364-1G=) | |
| 7 | g.44151025C>G | CA367402061 | GCK | c.*412G>C (n.*412G>C) c.414G>C (p.Gln138His) n.900G>C c.417G>C (p.Gln139His) c.411G>C (p.Gln137His) c.364-1G>C (n.364-1G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.44151025C>T | CA367402062 | GCK | c.*412G>A (n.*412G>A) c.414G>A (p.Gln138=) n.900G>A c.417G>A (p.Gln139=) c.411G>A (p.Gln137=) c.364-1G>A (n.364-1G>A) | |
| 7 | g.44151026T>A | CA367402064 | GCK | c.*411A>T (n.*411A>T) c.413A>T (p.Gln138Leu) n.899A>T c.416A>T (p.Gln139Leu) c.410A>T (p.Gln137Leu) c.364-2A>T (n.364-2A>T) | |
| 7 | g.44151026T>C | CA367402065 | GCK | c.*411A>G (n.*411A>G) c.413A>G (p.Gln138Arg) n.899A>G c.416A>G (p.Gln139Arg) c.410A>G (p.Gln137Arg) c.364-2A>G (n.364-2A>G) | |
| 7 | g.44151026T>G | CA367402066 | GCK | c.*411A>C (n.*411A>C) c.413A>C (p.Gln138Pro) n.899A>C c.416A>C (p.Gln139Pro) c.410A>C (p.Gln137Pro) c.364-2A>C (n.364-2A>C) | |
| 7 | g.44151027G>A | CA367402067 | GCK | c.*410C>T (n.*410C>T) c.412C>T (p.Gln138Ter) n.898C>T c.415C>T (p.Gln139Ter) c.409C>T (p.Gln137Ter) c.364-3C>T (n.364-3C>T) | |
| 7 | g.44151027G>C | CA367402068 | GCK | c.*410C>G (n.*410C>G) c.412C>G (p.Gln138Glu) n.898C>G c.415C>G (p.Gln139Glu) c.409C>G (p.Gln137Glu) c.364-3C>G (n.364-3C>G) | |
| 7 | g.44151027G>T | CA367402070 | GCK | c.*410C>A (n.*410C>A) c.412C>A (p.Gln138Lys) n.898C>A c.415C>A (p.Gln139Lys) c.409C>A (p.Gln137Lys) c.364-3C>A (n.364-3C>A) | |
| 7 | g.44151028A>C | CA367402072 | GCK | c.*409T>G (n.*409T>G) c.411T>G (p.His137Gln) n.897T>G c.414T>G (p.His138Gln) c.408T>G (p.His136Gln) c.364-4T>G (n.364-4T>G) | gnomAD v4 |
| 7 | g.44151028A>G | CA454609835 | GCK | c.*409T>C (n.*409T>C) c.411T>C (p.His137=) n.897T>C c.414T>C (p.His138=) c.408T>C (p.His136=) c.364-4T>C (n.364-4T>C) | |
| 7 | g.44151028A>T | CA367402073 | GCK | c.*409T>A (n.*409T>A) c.411T>A (p.His137Gln) n.897T>A c.414T>A (p.His138Gln) c.408T>A (p.His136Gln) c.364-4T>A (n.364-4T>A) | gnomAD v4 |
| 7 | g.44151029T>A | CA367402075 | GCK | c.*408A>T (n.*408A>T) c.410A>T (p.His137Leu) n.896A>T c.413A>T (p.His138Leu) c.407A>T (p.His136Leu) c.364-5A>T (n.364-5A>T) | |
| 7 | g.44151029T>C | CA367402077 | GCK | c.*408A>G (n.*408A>G) c.410A>G (p.His137Arg) n.896A>G c.413A>G (p.His138Arg) c.407A>G (p.His136Arg) c.364-5A>G (n.364-5A>G) | ClinVar |
| 7 | g.44151029T>G | CA367402076 | GCK | c.*408A>C (n.*408A>C) c.410A>C (p.His137Pro) n.896A>C c.413A>C (p.His138Pro) c.407A>C (p.His136Pro) c.364-5A>C (n.364-5A>C) | |
| 7 | g.44151030G>A | CA367402078 | GCK | c.*407C>T (n.*407C>T) c.409C>T (p.His137Tyr) n.895C>T c.412C>T (p.His138Tyr) c.406C>T (p.His136Tyr) c.364-6C>T (n.364-6C>T) | |
| 7 | g.44151030G>C | CA367402081 | GCK | c.*407C>G (n.*407C>G) c.409C>G (p.His137Asp) n.895C>G c.412C>G (p.His138Asp) c.406C>G (p.His136Asp) c.364-6C>G (n.364-6C>G) | |
| 7 | g.44151030G>T | CA367402079 | GCK | c.*407C>A (n.*407C>A) c.409C>A (p.His137Asn) n.895C>A c.412C>A (p.His138Asn) c.406C>A (p.His136Asn) c.364-6C>A (n.364-6C>A) | |
| 7 | g.44151031C>A | CA367402082 | GCK | c.*406G>T (n.*406G>T) c.408G>T (p.Lys136Asn) n.894G>T c.411G>T (p.Lys137Asn) c.405G>T (p.Lys135Asn) c.364-7G>T (n.364-7G>T) | |
| 7 | g.44151031C>G | CA367402084 | GCK | c.*406G>C (n.*406G>C) c.408G>C (p.Lys136Asn) n.894G>C c.411G>C (p.Lys137Asn) c.405G>C (p.Lys135Asn) c.364-7G>C (n.364-7G>C) | |
| 7 | g.44151031C>T | CA454609837 | GCK | c.*406G>A (n.*406G>A) c.408G>A (p.Lys136=) n.894G>A c.411G>A (p.Lys137=) c.405G>A (p.Lys135=) c.364-7G>A (n.364-7G>A) | |
| 7 | g.44151032T>A | CA367402086 | GCK | c.*405A>T (n.*405A>T) c.407A>T (p.Lys136Met) n.893A>T c.410A>T (p.Lys137Met) c.404A>T (p.Lys135Met) c.364-8A>T (n.364-8A>T) | |
| 7 | g.44151032T>C | CA367402087 | GCK | c.*405A>G (n.*405A>G) c.407A>G (p.Lys136Arg) n.893A>G c.410A>G (p.Lys137Arg) c.404A>G (p.Lys135Arg) c.364-8A>G (n.364-8A>G) | dbSNP |
| 7 | g.44151032T>G | CA367402089 | GCK | c.*405A>C (n.*405A>C) c.407A>C (p.Lys136Thr) n.893A>C c.410A>C (p.Lys137Thr) c.404A>C (p.Lys135Thr) c.364-8A>C (n.364-8A>C) | gnomAD v4 |
| 7 | g.44151032T= | CA1703636469 | GCK | c.*405A= (n.*405A=) c.407A= (p.Lys136=) n.893A= c.410A= (p.Lys137=) c.404A= (p.Lys135=) c.364-8A= (n.364-8A=) | |
| 7 | g.44151033T>A | CA367402090 | GCK | c.*404A>T (n.*404A>T) c.406A>T (p.Lys136Ter) n.892A>T c.409A>T (p.Lys137Ter) c.403A>T (p.Lys135Ter) c.364-9A>T (n.364-9A>T) | |
| 7 | g.44151033T>C | CA367402091 | GCK | c.*404A>G (n.*404A>G) c.406A>G (p.Lys136Glu) n.892A>G c.409A>G (p.Lys137Glu) c.403A>G (p.Lys135Glu) c.364-9A>G (n.364-9A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44151033T>G | CA367402092 | GCK | c.*404A>C (n.*404A>C) c.406A>C (p.Lys136Gln) n.892A>C c.409A>C (p.Lys137Gln) c.403A>C (p.Lys135Gln) c.364-9A>C (n.364-9A>C) | |
| 7 | g.44151033T= | CA1703636470 | GCK | c.*404A= (n.*404A=) c.406A= (p.Lys136=) n.892A= c.409A= (p.Lys137=) c.403A= (p.Lys135=) c.364-9A= (n.364-9A=) | |
| 7 | g.44151034G>A | CA454609841 | GCK | c.*403C>T (n.*403C>T) c.405C>T (p.Asp135=) n.891C>T c.408C>T (p.Asp136=) c.402C>T (p.Asp134=) c.364-10C>T (n.364-10C>T) | |
| 7 | g.44151034G>C | CA367402093 | GCK | c.*403C>G (n.*403C>G) c.405C>G (p.Asp135Glu) n.891C>G c.408C>G (p.Asp136Glu) c.402C>G (p.Asp134Glu) c.364-10C>G (n.364-10C>G) | |
| 7 | g.44151034G>T | CA367402095 | GCK | c.*403C>A (n.*403C>A) c.405C>A (p.Asp135Glu) n.891C>A c.408C>A (p.Asp136Glu) c.402C>A (p.Asp134Glu) c.364-10C>A (n.364-10C>A) | |
| 7 | g.44151035T>A | CA367402100 | GCK | c.*402A>T (n.*402A>T) c.404A>T (p.Asp135Val) n.890A>T c.407A>T (p.Asp136Val) c.401A>T (p.Asp134Val) c.364-11A>T (n.364-11A>T) | |
| 7 | g.44151035T>C | CA367402098 | GCK | c.*402A>G (n.*402A>G) c.404A>G (p.Asp135Gly) n.890A>G c.407A>G (p.Asp136Gly) c.401A>G (p.Asp134Gly) c.364-11A>G (n.364-11A>G) | |
| 7 | g.44151035T>G | CA367402096 | GCK | c.*402A>C (n.*402A>C) c.404A>C (p.Asp135Ala) n.890A>C c.407A>C (p.Asp136Ala) c.401A>C (p.Asp134Ala) c.364-11A>C (n.364-11A>C) | |
| 7 | g.44151036C>A | CA367402101 | GCK | c.*401G>T (n.*401G>T) c.403G>T (p.Asp135Tyr) n.889G>T c.406G>T (p.Asp136Tyr) c.400G>T (p.Asp134Tyr) c.364-12G>T (n.364-12G>T) | |
| 7 | g.44151036C>G | CA367402102 | GCK | c.*401G>C (n.*401G>C) c.403G>C (p.Asp135His) n.889G>C c.406G>C (p.Asp136His) c.400G>C (p.Asp134His) c.364-12G>C (n.364-12G>C) | |
| 7 | g.44151036C>T | CA367402103 | GCK | c.*401G>A (n.*401G>A) c.403G>A (p.Asp135Asn) n.889G>A c.406G>A (p.Asp136Asn) c.400G>A (p.Asp134Asn) c.364-12G>A (n.364-12G>A) | |
| 7 | g.44151037C>A | CA454609846 | GCK | c.*400G>T (n.*400G>T) c.402G>T (p.Leu134=) n.888G>T c.405G>T (p.Leu135=) c.399G>T (p.Leu133=) c.364-13G>T (n.364-13G>T) | |
| 7 | g.44151037C>G | CA454609847 | GCK | c.*400G>C (n.*400G>C) c.402G>C (p.Leu134=) n.888G>C c.405G>C (p.Leu135=) c.399G>C (p.Leu133=) c.364-13G>C (n.364-13G>C) | |
| 7 | g.44151037C>T | CA454609849 | GCK | c.*400G>A (n.*400G>A) c.402G>A (p.Leu134=) n.888G>A c.405G>A (p.Leu135=) c.399G>A (p.Leu133=) c.364-13G>A (n.364-13G>A) | |
| 7 | g.44151038A>C | CA367402106 | GCK | c.*399T>G (n.*399T>G) c.401T>G (p.Leu134Arg) n.887T>G c.404T>G (p.Leu135Arg) c.398T>G (p.Leu133Arg) c.364-14T>G (n.364-14T>G) | |
| 7 | g.44151038A>G | CA367402107 | GCK | c.*399T>C (n.*399T>C) c.401T>C (p.Leu134Pro) n.887T>C c.404T>C (p.Leu135Pro) c.398T>C (p.Leu133Pro) c.364-14T>C (n.364-14T>C) | |
| 7 | g.44151038A>T | CA367402109 | GCK | c.*399T>A (n.*399T>A) c.401T>A (p.Leu134Gln) n.887T>A c.404T>A (p.Leu135Gln) c.398T>A (p.Leu133Gln) c.364-14T>A (n.364-14T>A) | |
| 7 | g.44151039G>A | CA454609850 | GCK | c.*398C>T (n.*398C>T) c.400C>T (p.Leu134=) n.886C>T c.403C>T (p.Leu135=) c.397C>T (p.Leu133=) c.364-15C>T (n.364-15C>T) | dbSNP |
| 7 | g.44151039G>C | CA367402110 | GCK | c.*398C>G (n.*398C>G) c.400C>G (p.Leu134Val) n.886C>G c.403C>G (p.Leu135Val) c.397C>G (p.Leu133Val) c.364-15C>G (n.364-15C>G) | |
| 7 | g.44151039G= | CA1703636471 | GCK | c.*398C= (n.*398C=) c.400C= (p.Leu134=) n.886C= c.403C= (p.Leu135=) c.397C= (p.Leu133=) c.364-15C= (n.364-15C=) | |
| 7 | g.44151039G>T | CA367402111 | GCK | c.*398C>A (n.*398C>A) c.400C>A (p.Leu134Met) n.886C>A c.403C>A (p.Leu135Met) c.397C>A (p.Leu133Met) c.364-15C>A (n.364-15C>A) | |
| 7 | g.44151040G>A | CA157918180 | GCK | c.*397C>T (n.*397C>T) c.399C>T (p.Phe133=) n.885C>T c.402C>T (p.Phe134=) c.396C>T (p.Phe132=) c.364-16C>T (n.364-16C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.44151040G>C | CA367402113 | GCK | c.*397C>G (n.*397C>G) c.399C>G (p.Phe133Leu) n.885C>G c.402C>G (p.Phe134Leu) c.396C>G (p.Phe132Leu) c.364-16C>G (n.364-16C>G) | |
| 7 | g.44151040G= | CA1703636472 | GCK | c.*397C= (n.*397C=) c.399C= (p.Phe133=) n.885C= c.402C= (p.Phe134=) c.396C= (p.Phe132=) c.364-16C= (n.364-16C=) | |
| 7 | g.44151040G>T | CA367402115 | GCK | c.*397C>A (n.*397C>A) c.399C>A (p.Phe133Leu) n.885C>A c.402C>A (p.Phe134Leu) c.396C>A (p.Phe132Leu) c.364-16C>A (n.364-16C>A) | |
| 7 | g.44151041A>C | CA367402118 | GCK | c.*396T>G (n.*396T>G) c.398T>G (p.Phe133Cys) n.884T>G c.401T>G (p.Phe134Cys) c.395T>G (p.Phe132Cys) c.364-17T>G (n.364-17T>G) | |
| 7 | g.44151041A>G | CA367402119 | GCK | c.*396T>C (n.*396T>C) c.398T>C (p.Phe133Ser) n.884T>C c.401T>C (p.Phe134Ser) c.395T>C (p.Phe132Ser) c.364-17T>C (n.364-17T>C) | |
| 7 | g.44151041A>T | CA367402117 | GCK | c.*396T>A (n.*396T>A) c.398T>A (p.Phe133Tyr) n.884T>A c.401T>A (p.Phe134Tyr) c.395T>A (p.Phe132Tyr) c.364-17T>A (n.364-17T>A) | |
| 7 | g.44151041_44151042del | CA645564883 | GCK | c.*395_*396del (n.*395_*396del) c.397_398del (p.Phe133ProfsTer28) n.883_884del c.400_401del (p.Phe134ProfsTer28) c.394_395del (p.Phe132ProfsTer28) c.364-18_364-17del (n.364-18_364-17del) | COSMIC COSMIC COSMIC |
| 7 | g.44151042A>C | CA367402121 | GCK | c.*395T>G (n.*395T>G) c.397T>G (p.Phe133Val) n.883T>G c.400T>G (p.Phe134Val) c.394T>G (p.Phe132Val) c.364-18T>G (n.364-18T>G) | ClinVar |
| 7 | g.44151042A>G | CA367402122 | GCK | c.*395T>C (n.*395T>C) c.397T>C (p.Phe133Leu) n.883T>C c.400T>C (p.Phe134Leu) c.394T>C (p.Phe132Leu) c.364-18T>C (n.364-18T>C) | ClinVar dbSNP |
| 7 | g.44151042A>T | CA367402124 | GCK | c.*395T>A (n.*395T>A) c.397T>A (p.Phe133Ile) n.883T>A c.400T>A (p.Phe134Ile) c.394T>A (p.Phe132Ile) c.364-18T>A (n.364-18T>A) | ClinVar |
| 7 | g.44151043G>A | CA454609854 | GCK | c.*394C>T (n.*394C>T) c.396C>T (p.Asp132=) n.882C>T c.399C>T (p.Asp133=) c.393C>T (p.Asp131=) c.364-19C>T (n.364-19C>T) | |
| 7 | g.44151043G>C | CA367402125 | GCK | c.*394C>G (n.*394C>G) c.396C>G (p.Asp132Glu) n.882C>G c.399C>G (p.Asp133Glu) c.393C>G (p.Asp131Glu) c.364-19C>G (n.364-19C>G) | |
| 7 | g.44151043G>T | CA367402127 | GCK | c.*394C>A (n.*394C>A) c.396C>A (p.Asp132Glu) n.882C>A c.399C>A (p.Asp133Glu) c.393C>A (p.Asp131Glu) c.364-19C>A (n.364-19C>A) | |
| 7 | g.44151044T>A | CA367402129 | GCK | c.*393A>T (n.*393A>T) c.395A>T (p.Asp132Val) n.881A>T c.398A>T (p.Asp133Val) c.392A>T (p.Asp131Val) c.364-20A>T (n.364-20A>T) | |
| 7 | g.44151044T>C | CA367402130 | GCK | c.*393A>G (n.*393A>G) c.395A>G (p.Asp132Gly) n.881A>G c.398A>G (p.Asp133Gly) c.392A>G (p.Asp131Gly) c.364-20A>G (n.364-20A>G) | |
| 7 | g.44151044T>G | CA367402132 | GCK | c.*393A>C (n.*393A>C) c.395A>C (p.Asp132Ala) n.881A>C c.398A>C (p.Asp133Ala) c.392A>C (p.Asp131Ala) c.364-20A>C (n.364-20A>C) | |
| 7 | g.44151045C>A | CA367402133 | GCK | c.*392G>T (n.*392G>T) c.394G>T (p.Asp132Tyr) n.880G>T c.397G>T (p.Asp133Tyr) c.391G>T (p.Asp131Tyr) c.364-21G>T (n.364-21G>T) | |
| 7 | g.44151045C= | CA1703636474 | GCK | c.*392G= (n.*392G=) c.394G= (p.Asp132=) n.880G= c.397G= (p.Asp133=) c.391G= (p.Asp131=) c.364-21G= (n.364-21G=) | |
| 7 | g.44151045C>G | CA367402134 | GCK | c.*392G>C (n.*392G>C) c.394G>C (p.Asp132His) n.880G>C c.397G>C (p.Asp133His) c.391G>C (p.Asp131His) c.364-21G>C (n.364-21G>C) | |
| 7 | g.44151045C>T | CA4239636 | GCK | c.*392G>A (n.*392G>A) c.394G>A (p.Asp132Asn) n.880G>A c.397G>A (p.Asp133Asn) c.391G>A (p.Asp131Asn) c.364-21G>A (n.364-21G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44151045_44151046delinsCG | CA1703636473 | GCK | c.*391_*392delinsCG (n.*391_*392delinsCG) c.393_394delinsCG (p.Ser131=) n.879_880delinsCG c.396_397delinsCG (p.Ser132=) c.390_391delinsCG (p.Ser130=) c.364-22_364-21delinsCG (n.364-22_364-21delinsCG) | |
| 7 | g.44151046G>A | CA4239637 | GCK | c.*391C>T (n.*391C>T) c.393C>T (p.Ser131=) n.879C>T c.396C>T (p.Ser132=) c.390C>T (p.Ser130=) c.364-22C>T (n.364-22C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44151046G>C | CA454609857 | GCK | c.*391C>G (n.*391C>G) c.393C>G (p.Ser131=) n.879C>G c.396C>G (p.Ser132=) c.390C>G (p.Ser130=) c.364-22C>G (n.364-22C>G) | |
| 7 | g.44151046G= | CA1703636475 | GCK | c.*391C= (n.*391C=) c.393C= (p.Ser131=) n.879C= c.396C= (p.Ser132=) c.390C= (p.Ser130=) c.364-22C= (n.364-22C=) | |
| 7 | g.44151046G>T | CA454609856 | GCK | c.*391C>A (n.*391C>A) c.393C>A (p.Ser131=) n.879C>A c.396C>A (p.Ser132=) c.390C>A (p.Ser130=) c.364-22C>A (n.364-22C>A) | |
| 7 | g.44151047del | CA213781 | GCK | c.*391del (n.*391del) c.393del (p.Asp132ThrfsTer8) n.879del c.396del (p.Asp133ThrfsTer8) c.390del (p.Asp131ThrfsTer8) c.364-22del (n.364-22del) | ClinVar dbSNP |
| 7 | g.44151047G>A | CA367402138 | GCK | c.*390C>T (n.*390C>T) c.392C>T (p.Ser131Phe) n.878C>T c.395C>T (p.Ser132Phe) c.389C>T (p.Ser130Phe) c.364-23C>T (n.364-23C>T) | |
| 7 | g.44151047G>C | CA367402136 | GCK | c.*390C>G (n.*390C>G) c.392C>G (p.Ser131Cys) n.878C>G c.395C>G (p.Ser132Cys) c.389C>G (p.Ser130Cys) c.364-23C>G (n.364-23C>G) | |
| 7 | g.44151047G>T | CA367402135 | GCK | c.*390C>A (n.*390C>A) c.392C>A (p.Ser131Tyr) n.878C>A c.395C>A (p.Ser132Tyr) c.389C>A (p.Ser130Tyr) c.364-23C>A (n.364-23C>A) | |
| 7 | g.44151048A= | CA1703636476 | GCK | c.*389T= (n.*389T=) c.391T= (p.Ser131=) n.877T= c.394T= (p.Ser132=) c.388T= (p.Ser130=) c.364-24T= (n.364-24T=) | |
| 7 | g.44151048A>C | CA367402139 | GCK | c.*389T>G (n.*389T>G) c.391T>G (p.Ser131Ala) n.877T>G c.394T>G (p.Ser132Ala) c.388T>G (p.Ser130Ala) c.364-24T>G (n.364-24T>G) | |
| 7 | g.44151048A>G | CA126213 | GCK | c.*389T>C (n.*389T>C) c.391T>C (p.Ser131Pro) n.877T>C c.394T>C (p.Ser132Pro) c.388T>C (p.Ser130Pro) c.364-24T>C (n.364-24T>C) | ClinVar dbSNP gnomAD v4 |
| 7 | g.44151048A>T | CA367402141 | GCK | c.*389T>A (n.*389T>A) c.391T>A (p.Ser131Thr) n.877T>A c.394T>A (p.Ser132Thr) c.388T>A (p.Ser130Thr) c.364-24T>A (n.364-24T>A) | |
| 7 | g.44151049del | CA2695202970 | GCK | c.*388del (n.*388del) c.390del (p.Ser131ProfsTer9) n.876del c.393del (p.Ser132ProfsTer9) c.387del (p.Ser130ProfsTer9) c.364-25del (n.364-25del) | |
| 7 | g.44151049G>A | CA454609859 | GCK | c.*388C>T (n.*388C>T) c.390C>T (p.Ile130=) n.876C>T c.393C>T (p.Ile131=) c.387C>T (p.Ile129=) c.364-25C>T (n.364-25C>T) | gnomAD v4 |
| 7 | g.44151049G>C | CA367402143 | GCK | c.*388C>G (n.*388C>G) c.390C>G (p.Ile130Met) n.876C>G c.393C>G (p.Ile131Met) c.387C>G (p.Ile129Met) c.364-25C>G (n.364-25C>G) | |
| 7 | g.44151049G>T | CA454609861 | GCK | c.*388C>A (n.*388C>A) c.390C>A (p.Ile130=) n.876C>A c.393C>A (p.Ile131=) c.387C>A (p.Ile129=) c.364-25C>A (n.364-25C>A) | |
| 7 | g.44151050A= | CA1703636477 | GCK | c.*387T= (n.*387T=) c.389T= (p.Ile130=) n.875T= c.392T= (p.Ile131=) c.386T= (p.Ile129=) c.364-26T= (n.364-26T=) | |
| 7 | g.44151050A>C | CA367402145 | GCK | c.*387T>G (n.*387T>G) c.389T>G (p.Ile130Ser) n.875T>G c.392T>G (p.Ile131Ser) c.386T>G (p.Ile129Ser) c.364-26T>G (n.364-26T>G) | |
| 7 | g.44151050A>G | CA157918200 | GCK | c.*387T>C (n.*387T>C) c.389T>C (p.Ile130Thr) n.875T>C c.392T>C (p.Ile131Thr) c.386T>C (p.Ile129Thr) c.364-26T>C (n.364-26T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44151050A>T | CA367402147 | GCK | c.*387T>A (n.*387T>A) c.389T>A (p.Ile130Asn) n.875T>A c.392T>A (p.Ile131Asn) c.386T>A (p.Ile129Asn) c.364-26T>A (n.364-26T>A) | ClinVar |
| 7 | g.44151051T>A | CA367402148 | GCK | c.*386A>T (n.*386A>T) c.388A>T (p.Ile130Phe) n.874A>T c.391A>T (p.Ile131Phe) c.385A>T (p.Ile129Phe) c.364-27A>T (n.364-27A>T) | ClinVar dbSNP |
| 7 | g.44151051T>C | CA367402150 | GCK | c.*386A>G (n.*386A>G) c.388A>G (p.Ile130Val) n.874A>G c.391A>G (p.Ile131Val) c.385A>G (p.Ile129Val) c.364-27A>G (n.364-27A>G) | |
| 7 | g.44151051T>G | CA367402151 | GCK | c.*386A>C (n.*386A>C) c.388A>C (p.Ile130Leu) n.874A>C c.391A>C (p.Ile131Leu) c.385A>C (p.Ile129Leu) c.364-27A>C (n.364-27A>C) | |
| 7 | g.44151052G>A | CA454609864 | GCK | c.*385C>T (n.*385C>T) c.387C>T (p.Cys129=) n.873C>T c.390C>T (p.Cys130=) c.384C>T (p.Cys128=) c.364-28C>T (n.364-28C>T) | |
| 7 | g.44151052G>C | CA367402152 | GCK | c.*385C>G (n.*385C>G) c.387C>G (p.Cys129Trp) n.873C>G c.390C>G (p.Cys130Trp) c.384C>G (p.Cys128Trp) c.364-28C>G (n.364-28C>G) | |
| 7 | g.44151052G= | CA1703636478 | GCK | c.*385C= (n.*385C=) c.387C= (p.Cys129=) n.873C= c.390C= (p.Cys130=) c.384C= (p.Cys128=) c.364-28C= (n.364-28C=) | |
| 7 | g.44151052G>T | CA367402154 | GCK | c.*385C>A (n.*385C>A) c.387C>A (p.Cys129Ter) n.873C>A c.390C>A (p.Cys130Ter) c.384C>A (p.Cys128Ter) c.364-28C>A (n.364-28C>A) | ClinVar dbSNP |
| 7 | g.44151053C>A | CA367402158 | GCK | c.*384G>T (n.*384G>T) c.386G>T (p.Cys129Phe) n.872G>T c.389G>T (p.Cys130Phe) c.383G>T (p.Cys128Phe) c.364-29G>T (n.364-29G>T) | ClinVar |
| 7 | g.44151053C>G | CA367402157 | GCK | c.*384G>C (n.*384G>C) c.386G>C (p.Cys129Ser) n.872G>C c.389G>C (p.Cys130Ser) c.383G>C (p.Cys128Ser) c.364-29G>C (n.364-29G>C) | |
| 7 | g.44151053C>T | CA367402156 | GCK | c.*384G>A (n.*384G>A) c.386G>A (p.Cys129Tyr) n.872G>A c.389G>A (p.Cys130Tyr) c.383G>A (p.Cys128Tyr) c.364-29G>A (n.364-29G>A) | ClinVar dbSNP gnomAD v4 |
| 7 | g.44151054A= | CA1703636479 | GCK | c.*383T= (n.*383T=) c.385T= (p.Cys129=) n.871T= c.388T= (p.Cys130=) c.382T= (p.Cys128=) c.364-30T= (n.364-30T=) | |
| 7 | g.44151054A>C | CA367402160 | GCK | c.*383T>G (n.*383T>G) c.385T>G (p.Cys129Gly) n.871T>G c.388T>G (p.Cys130Gly) c.382T>G (p.Cys128Gly) c.364-30T>G (n.364-30T>G) | |
| 7 | g.44151054A>G | CA4239638 | GCK | c.*383T>C (n.*383T>C) c.385T>C (p.Cys129Arg) n.871T>C c.388T>C (p.Cys130Arg) c.382T>C (p.Cys128Arg) c.364-30T>C (n.364-30T>C) | dbSNP ExAC gnomAD v2 COSMIC COSMIC COSMIC |
| 7 | g.44151054A>T | CA367402161 | GCK | c.*383T>A (n.*383T>A) c.385T>A (p.Cys129Ser) n.871T>A c.388T>A (p.Cys130Ser) c.382T>A (p.Cys128Ser) c.364-30T>A (n.364-30T>A) | |
| 7 | g.44151055C>A | CA367402163 | GCK | c.*382G>T (n.*382G>T) c.384G>T (p.Glu128Asp) n.870G>T c.387G>T (p.Glu129Asp) c.381G>T (p.Glu127Asp) c.364-31G>T (n.364-31G>T) | |
| 7 | g.44151055C>G | CA367402164 | GCK | c.*382G>C (n.*382G>C) c.384G>C (p.Glu128Asp) n.870G>C c.387G>C (p.Glu129Asp) c.381G>C (p.Glu127Asp) c.364-31G>C (n.364-31G>C) | ClinVar gnomAD v4 |
| 7 | g.44151055C>T | CA454609869 | GCK | c.*382G>A (n.*382G>A) c.384G>A (p.Glu128=) n.870G>A c.387G>A (p.Glu129=) c.381G>A (p.Glu127=) c.364-31G>A (n.364-31G>A) |