Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.44145618_44145640del | CA2695203016 | GCK | c.*1113_*1135del (n.*1113_*1135del) c.*235_*257del (n.*235_*257del) n.341_363del c.149_171del (p.Glu50AlafsTer?) c.1118_1140del (p.Glu373AlafsTer?) c.1115_1137del (p.Glu372AlafsTer?) c.1178_1200del (p.Glu393AlafsTer?) n.127_149del c.167_189del (p.Glu56AlafsTer?) c.1112_1134del (p.Glu371AlafsTer?) c.1064_1086del (p.Glu355AlafsTer?) n.495_517del c.104_126del (p.Glu35AlafsTer?) c.-26_-4del (n.-26_-4del) | |
7 | g.44145621_44145632del | CA2695203036 | GCK | c.*1119_*1130del (n.*1119_*1130del) c.*241_*252del (n.*241_*252del) n.347_358del c.155_166del (p.Val52_Arg55del) c.1124_1135del (p.Val375_Arg378del) c.1121_1132del (p.Val374_Arg377del) c.1184_1195del (p.Val395_Arg398del) n.133_144del c.173_184del (p.Val58_Arg61del) c.1118_1129del (p.Val373_Arg376del) c.1070_1081del (p.Val357_Arg360del) n.501_512del c.110_121del (p.Val37_Arg40del) c.-20_-9del (n.-20_-9del) | |
7 | g.44145624_44145631del | CA2695203037 | GCK | c.*1119_*1126del (n.*1119_*1126del) c.*241_*248del (n.*241_*248del) n.347_354del c.155_162del (p.Val52AlafsTer?) c.1124_1131del (p.Val375AlafsTer?) c.1121_1128del (p.Val374AlafsTer?) c.1184_1191del (p.Val395AlafsTer?) n.133_140del c.173_180del (p.Val58AlafsTer?) c.1118_1125del (p.Val373AlafsTer?) c.1070_1077del (p.Val357AlafsTer?) n.501_508del c.110_117del (p.Val37AlafsTer?) c.-20_-13del (n.-20_-13del) | |
7 | g.44145628C>A | CA454863277 | GCK | c.*1120G>T (n.*1120G>T) c.*242G>T (n.*242G>T) n.348G>T c.156G>T (p.Val52=) c.1125G>T (p.Val375=) c.1122G>T (p.Val374=) c.1185G>T (p.Val395=) n.134G>T c.174G>T (p.Val58=) c.1119G>T (p.Val373=) c.1071G>T (p.Val357=) n.502G>T c.111G>T (p.Val37=) c.-19G>T (n.-19G>T) | gnomAD v4 |
7 | g.44145628C>G | CA454863278 | GCK | c.*1120G>C (n.*1120G>C) c.*242G>C (n.*242G>C) n.348G>C c.156G>C (p.Val52=) c.1125G>C (p.Val375=) c.1122G>C (p.Val374=) c.1185G>C (p.Val395=) n.134G>C c.174G>C (p.Val58=) c.1119G>C (p.Val373=) c.1071G>C (p.Val357=) n.502G>C c.111G>C (p.Val37=) c.-19G>C (n.-19G>C) | |
7 | g.44145628C>T | CA454863276 | GCK | c.*1120G>A (n.*1120G>A) c.*242G>A (n.*242G>A) n.348G>A c.156G>A (p.Val52=) c.1125G>A (p.Val375=) c.1122G>A (p.Val374=) c.1185G>A (p.Val395=) n.134G>A c.174G>A (p.Val58=) c.1119G>A (p.Val373=) c.1071G>A (p.Val357=) n.502G>A c.111G>A (p.Val37=) c.-19G>A (n.-19G>A) | |
7 | g.44145629A>C | CA367398863 | GCK | c.*1119T>G (n.*1119T>G) c.*241T>G (n.*241T>G) n.347T>G c.155T>G (p.Val52Gly) c.1124T>G (p.Val375Gly) c.1121T>G (p.Val374Gly) c.1184T>G (p.Val395Gly) n.133T>G c.173T>G (p.Val58Gly) c.1118T>G (p.Val373Gly) c.1070T>G (p.Val357Gly) n.501T>G c.110T>G (p.Val37Gly) c.-20T>G (n.-20T>G) | |
7 | g.44145629A>G | CA367398867 | GCK | c.*1119T>C (n.*1119T>C) c.*241T>C (n.*241T>C) n.347T>C c.155T>C (p.Val52Ala) c.1124T>C (p.Val375Ala) c.1121T>C (p.Val374Ala) c.1184T>C (p.Val395Ala) n.133T>C c.173T>C (p.Val58Ala) c.1118T>C (p.Val373Ala) c.1070T>C (p.Val357Ala) n.501T>C c.110T>C (p.Val37Ala) c.-20T>C (n.-20T>C) | |
7 | g.44145629A>T | CA367398869 | GCK | c.*1119T>A (n.*1119T>A) c.*241T>A (n.*241T>A) n.347T>A c.155T>A (p.Val52Glu) c.1124T>A (p.Val375Glu) c.1121T>A (p.Val374Glu) c.1184T>A (p.Val395Glu) n.133T>A c.173T>A (p.Val58Glu) c.1118T>A (p.Val373Glu) c.1070T>A (p.Val357Glu) n.501T>A c.110T>A (p.Val37Glu) c.-20T>A (n.-20T>A) | ClinVar gnomAD v4 |
7 | g.44145629dup | CA2695203039 | GCK | c.*1119dup (n.*1119dup) c.*241dup (n.*241dup) n.347dup c.155dup (p.Ser53ValfsTer?) c.1124dup (p.Ser376ValfsTer?) c.1121dup (p.Ser375ValfsTer?) c.1184dup (p.Ser396ValfsTer?) n.133dup c.173dup (p.Ser59ValfsTer?) c.1118dup (p.Ser374ValfsTer?) c.1070dup (p.Ser358ValfsTer?) n.501dup c.110dup (p.Ser38ValfsTer?) c.-20dup (n.-20dup) | |
7 | g.44145630C>A | CA367398872 | GCK | c.*1118G>T (n.*1118G>T) c.*240G>T (n.*240G>T) n.346G>T c.154G>T (p.Val52Leu) c.1123G>T (p.Val375Leu) c.1120G>T (p.Val374Leu) c.1183G>T (p.Val395Leu) n.132G>T c.172G>T (p.Val58Leu) c.1117G>T (p.Val373Leu) c.1069G>T (p.Val357Leu) n.500G>T c.109G>T (p.Val37Leu) c.-21G>T (n.-21G>T) | ClinVar dbSNP gnomAD v2 |
7 | g.44145630C= | CA1703612929 | GCK | c.*1118G= (n.*1118G=) c.*240G= (n.*240G=) n.346G= c.154G= (p.Val52=) c.1123G= (p.Val375=) c.1120G= (p.Val374=) c.1183G= (p.Val395=) n.132G= c.172G= (p.Val58=) c.1117G= (p.Val373=) c.1069G= (p.Val357=) n.500G= c.109G= (p.Val37=) c.-21G= (n.-21G=) | |
7 | g.44145630C>G | CA367398880 | GCK | c.*1118G>C (n.*1118G>C) c.*240G>C (n.*240G>C) n.346G>C c.154G>C (p.Val52Leu) c.1123G>C (p.Val375Leu) c.1120G>C (p.Val374Leu) c.1183G>C (p.Val395Leu) n.132G>C c.172G>C (p.Val58Leu) c.1117G>C (p.Val373Leu) c.1069G>C (p.Val357Leu) n.500G>C c.109G>C (p.Val37Leu) c.-21G>C (n.-21G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.44145630C>T | CA367398877 | GCK | c.*1118G>A (n.*1118G>A) c.*240G>A (n.*240G>A) n.346G>A c.154G>A (p.Val52Met) c.1123G>A (p.Val375Met) c.1120G>A (p.Val374Met) c.1183G>A (p.Val395Met) n.132G>A c.172G>A (p.Val58Met) c.1117G>A (p.Val373Met) c.1069G>A (p.Val357Met) n.500G>A c.109G>A (p.Val37Met) c.-21G>A (n.-21G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145631_44145632dup | CA2695203040 | GCK | c.*1117_*1118dup (n.*1117_*1118dup) c.*239_*240dup (n.*239_*240dup) n.345_346dup c.153_154dup (p.Val52AlafsTer29) c.1122_1123dup (p.Val375AlafsTer29) c.1119_1120dup (p.Val374AlafsTer29) c.1182_1183dup (p.Val395AlafsTer29) n.131_132dup c.171_172dup (p.Val58AlafsTer29) c.1116_1117dup (p.Val373AlafsTer29) c.1068_1069dup (p.Val357AlafsTer29) n.499_500dup c.108_109dup (p.Val37AlafsTer29) c.-22_-21dup (n.-22_-21dup) | |
7 | g.44145631G>A | CA454863282 | GCK | c.*1117C>T (n.*1117C>T) c.*239C>T (n.*239C>T) n.345C>T c.153C>T (p.Ser51=) c.1122C>T (p.Ser374=) c.1119C>T (p.Ser373=) c.1182C>T (p.Ser394=) n.131C>T c.171C>T (p.Ser57=) c.1116C>T (p.Ser372=) c.1068C>T (p.Ser356=) n.499C>T c.108C>T (p.Ser36=) c.-22C>T (n.-22C>T) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145631G>C | CA367398882 | GCK | c.*1117C>G (n.*1117C>G) c.*239C>G (n.*239C>G) n.345C>G c.153C>G (p.Ser51Arg) c.1122C>G (p.Ser374Arg) c.1119C>G (p.Ser373Arg) c.1182C>G (p.Ser394Arg) n.131C>G c.171C>G (p.Ser57Arg) c.1116C>G (p.Ser372Arg) c.1068C>G (p.Ser356Arg) n.499C>G c.108C>G (p.Ser36Arg) c.-22C>G (n.-22C>G) | dbSNP gnomAD v4 |
7 | g.44145631G= | CA1703612930 | GCK | c.*1117C= (n.*1117C=) c.*239C= (n.*239C=) n.345C= c.153C= (p.Ser51=) c.1122C= (p.Ser374=) c.1119C= (p.Ser373=) c.1182C= (p.Ser394=) n.131C= c.171C= (p.Ser57=) c.1116C= (p.Ser372=) c.1068C= (p.Ser356=) n.499C= c.108C= (p.Ser36=) c.-22C= (n.-22C=) | |
7 | g.44145631G>T | CA367398885 | GCK | c.*1117C>A (n.*1117C>A) c.*239C>A (n.*239C>A) n.345C>A c.153C>A (p.Ser51Arg) c.1122C>A (p.Ser374Arg) c.1119C>A (p.Ser373Arg) c.1182C>A (p.Ser394Arg) n.131C>A c.171C>A (p.Ser57Arg) c.1116C>A (p.Ser372Arg) c.1068C>A (p.Ser356Arg) n.499C>A c.108C>A (p.Ser36Arg) c.-22C>A (n.-22C>A) | dbSNP gnomAD v4 |
7 | g.44145632C>A | CA367398887 | GCK | c.*1116G>T (n.*1116G>T) c.*238G>T (n.*238G>T) n.344G>T c.152G>T (p.Ser51Ile) c.1121G>T (p.Ser374Ile) c.1118G>T (p.Ser373Ile) c.1181G>T (p.Ser394Ile) n.130G>T c.170G>T (p.Ser57Ile) c.1115G>T (p.Ser372Ile) c.1067G>T (p.Ser356Ile) n.498G>T c.107G>T (p.Ser36Ile) c.-23G>T (n.-23G>T) | |
7 | g.44145632C= | CA1703612931 | GCK | c.*1116G= (n.*1116G=) c.*238G= (n.*238G=) n.344G= c.152G= (p.Ser51=) c.1121G= (p.Ser374=) c.1118G= (p.Ser373=) c.1181G= (p.Ser394=) n.130G= c.170G= (p.Ser57=) c.1115G= (p.Ser372=) c.1067G= (p.Ser356=) n.498G= c.107G= (p.Ser36=) c.-23G= (n.-23G=) | |
7 | g.44145632C>G | CA4239428 | GCK | c.*1116G>C (n.*1116G>C) c.*238G>C (n.*238G>C) n.344G>C c.152G>C (p.Ser51Thr) c.1121G>C (p.Ser374Thr) c.1118G>C (p.Ser373Thr) c.1181G>C (p.Ser394Thr) n.130G>C c.170G>C (p.Ser57Thr) c.1115G>C (p.Ser372Thr) c.1067G>C (p.Ser356Thr) n.498G>C c.107G>C (p.Ser36Thr) c.-23G>C (n.-23G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44145632C>T | CA367398898 | GCK | c.*1116G>A (n.*1116G>A) c.*238G>A (n.*238G>A) n.344G>A c.152G>A (p.Ser51Asn) c.1121G>A (p.Ser374Asn) c.1118G>A (p.Ser373Asn) c.1181G>A (p.Ser394Asn) n.130G>A c.170G>A (p.Ser57Asn) c.1115G>A (p.Ser372Asn) c.1067G>A (p.Ser356Asn) n.498G>A c.107G>A (p.Ser36Asn) c.-23G>A (n.-23G>A) | |
7 | g.44145633T>A | CA367398901 | GCK | c.*1115A>T (n.*1115A>T) c.*237A>T (n.*237A>T) n.343A>T c.151A>T (p.Ser51Cys) c.1120A>T (p.Ser374Cys) c.1117A>T (p.Ser373Cys) c.1180A>T (p.Ser394Cys) n.129A>T c.169A>T (p.Ser57Cys) c.1114A>T (p.Ser372Cys) c.1066A>T (p.Ser356Cys) n.497A>T c.106A>T (p.Ser36Cys) c.-24A>T (n.-24A>T) | |
7 | g.44145633T>C | CA367398904 | GCK | c.*1115A>G (n.*1115A>G) c.*237A>G (n.*237A>G) n.343A>G c.151A>G (p.Ser51Gly) c.1120A>G (p.Ser374Gly) c.1117A>G (p.Ser373Gly) c.1180A>G (p.Ser394Gly) n.129A>G c.169A>G (p.Ser57Gly) c.1114A>G (p.Ser372Gly) c.1066A>G (p.Ser356Gly) n.497A>G c.106A>G (p.Ser36Gly) c.-24A>G (n.-24A>G) | |
7 | g.44145633T>G | CA367398906 | GCK | c.*1115A>C (n.*1115A>C) c.*237A>C (n.*237A>C) n.343A>C c.151A>C (p.Ser51Arg) c.1120A>C (p.Ser374Arg) c.1117A>C (p.Ser373Arg) c.1180A>C (p.Ser394Arg) n.129A>C c.169A>C (p.Ser57Arg) c.1114A>C (p.Ser372Arg) c.1066A>C (p.Ser356Arg) n.497A>C c.106A>C (p.Ser36Arg) c.-24A>C (n.-24A>C) | |
7 | g.44145634_44145654del | CA2695203042 | GCK | c.*1095_*1115del (n.*1095_*1115del) c.*217_*237del (n.*217_*237del) n.323_343del c.131_151del (p.Ile44_Glu50del) c.1100_1120del (p.Ile367_Glu373del) c.1097_1117del (p.Ile366_Glu372del) c.1160_1180del (p.Ile387_Glu393del) n.109_129del c.149_169del (p.Ile50_Glu56del) c.1094_1114del (p.Ile365_Glu371del) c.1046_1066del (p.Ile349_Glu355del) n.477_497del c.86_106del (p.Ile29_Glu35del) c.-44_-24del (n.-44_-24del) | |
7 | g.44145634C>A | CA367398909 | GCK | c.*1114G>T (n.*1114G>T) c.*236G>T (n.*236G>T) n.342G>T c.150G>T (p.Glu50Asp) c.1119G>T (p.Glu373Asp) c.1116G>T (p.Glu372Asp) c.1179G>T (p.Glu393Asp) n.128G>T c.168G>T (p.Glu56Asp) c.1113G>T (p.Glu371Asp) c.1065G>T (p.Glu355Asp) n.496G>T c.105G>T (p.Glu35Asp) c.-25G>T (n.-25G>T) | gnomAD v4 |
7 | g.44145634C= | CA1703612932 | GCK | c.*1114G= (n.*1114G=) c.*236G= (n.*236G=) n.342G= c.150G= (p.Glu50=) c.1119G= (p.Glu373=) c.1116G= (p.Glu372=) c.1179G= (p.Glu393=) n.128G= c.168G= (p.Glu56=) c.1113G= (p.Glu371=) c.1065G= (p.Glu355=) n.496G= c.105G= (p.Glu35=) c.-25G= (n.-25G=) | |
7 | g.44145634C>G | CA367398911 | GCK | c.*1114G>C (n.*1114G>C) c.*236G>C (n.*236G>C) n.342G>C c.150G>C (p.Glu50Asp) c.1119G>C (p.Glu373Asp) c.1116G>C (p.Glu372Asp) c.1179G>C (p.Glu393Asp) n.128G>C c.168G>C (p.Glu56Asp) c.1113G>C (p.Glu371Asp) c.1065G>C (p.Glu355Asp) n.496G>C c.105G>C (p.Glu35Asp) c.-25G>C (n.-25G>C) | gnomAD v4 |
7 | g.44145634C>T | CA4239429 | GCK | c.*1114G>A (n.*1114G>A) c.*236G>A (n.*236G>A) n.342G>A c.150G>A (p.Glu50=) c.1119G>A (p.Glu373=) c.1116G>A (p.Glu372=) c.1179G>A (p.Glu393=) n.128G>A c.168G>A (p.Glu56=) c.1113G>A (p.Glu371=) c.1065G>A (p.Glu355=) n.496G>A c.105G>A (p.Glu35=) c.-25G>A (n.-25G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44145635T>A | CA367398915 | GCK | c.*1113A>T (n.*1113A>T) c.*235A>T (n.*235A>T) n.341A>T c.149A>T (p.Glu50Val) c.1118A>T (p.Glu373Val) c.1115A>T (p.Glu372Val) c.1178A>T (p.Glu393Val) n.127A>T c.167A>T (p.Glu56Val) c.1112A>T (p.Glu371Val) c.1064A>T (p.Glu355Val) n.495A>T c.104A>T (p.Glu35Val) c.-26A>T (n.-26A>T) | |
7 | g.44145635T>C | CA367398919 | GCK | c.*1113A>G (n.*1113A>G) c.*235A>G (n.*235A>G) n.341A>G c.149A>G (p.Glu50Gly) c.1118A>G (p.Glu373Gly) c.1115A>G (p.Glu372Gly) c.1178A>G (p.Glu393Gly) n.127A>G c.167A>G (p.Glu56Gly) c.1112A>G (p.Glu371Gly) c.1064A>G (p.Glu355Gly) n.495A>G c.104A>G (p.Glu35Gly) c.-26A>G (n.-26A>G) | |
7 | g.44145635T>G | CA367398917 | GCK | c.*1113A>C (n.*1113A>C) c.*235A>C (n.*235A>C) n.341A>C c.149A>C (p.Glu50Ala) c.1118A>C (p.Glu373Ala) c.1115A>C (p.Glu372Ala) c.1178A>C (p.Glu393Ala) n.127A>C c.167A>C (p.Glu56Ala) c.1112A>C (p.Glu371Ala) c.1064A>C (p.Glu355Ala) n.495A>C c.104A>C (p.Glu35Ala) c.-26A>C (n.-26A>C) | |
7 | g.44145641_44145661del | CA2695203043 | GCK | c.*1093_*1113del (n.*1093_*1113del) c.*215_*235del (n.*215_*235del) n.321_341del c.129_149del (p.Asp43_Cys49del) c.1098_1118del (p.Asp366_Cys372del) c.1095_1115del (p.Asp365_Cys371del) c.1158_1178del (p.Asp386_Cys392del) n.107_127del c.147_167del (p.Asp49_Cys55del) c.1092_1112del (p.Asp364_Cys370del) c.1044_1064del (p.Asp348_Cys354del) n.475_495del c.84_104del (p.Asp28_Cys34del) c.-46_-26del (n.-46_-26del) | |
7 | g.44145636C>A | CA213711 | GCK | c.*1112G>T (n.*1112G>T) c.*234G>T (n.*234G>T) n.340G>T c.148G>T (p.Glu50Ter) c.1117G>T (p.Glu373Ter) c.1114G>T (p.Glu372Ter) c.1177G>T (p.Glu393Ter) n.126G>T c.166G>T (p.Glu56Ter) c.1111G>T (p.Glu371Ter) c.1063G>T (p.Glu355Ter) n.494G>T c.103G>T (p.Glu35Ter) c.-27G>T (n.-27G>T) | ClinVar dbSNP gnomAD v4 |
7 | g.44145636C= | CA1703612933 | GCK | c.*1112G= (n.*1112G=) c.*234G= (n.*234G=) n.340G= c.148G= (p.Glu50=) c.1117G= (p.Glu373=) c.1114G= (p.Glu372=) c.1177G= (p.Glu393=) n.126G= c.166G= (p.Glu56=) c.1111G= (p.Glu371=) c.1063G= (p.Glu355=) n.494G= c.103G= (p.Glu35=) c.-27G= (n.-27G=) | |
7 | g.44145636C>G | CA367398924 | GCK | c.*1112G>C (n.*1112G>C) c.*234G>C (n.*234G>C) n.340G>C c.148G>C (p.Glu50Gln) c.1117G>C (p.Glu373Gln) c.1114G>C (p.Glu372Gln) c.1177G>C (p.Glu393Gln) n.126G>C c.166G>C (p.Glu56Gln) c.1111G>C (p.Glu371Gln) c.1063G>C (p.Glu355Gln) n.494G>C c.103G>C (p.Glu35Gln) c.-27G>C (n.-27G>C) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145636C>T | CA367398922 | GCK | c.*1112G>A (n.*1112G>A) c.*234G>A (n.*234G>A) n.340G>A c.148G>A (p.Glu50Lys) c.1117G>A (p.Glu373Lys) c.1114G>A (p.Glu372Lys) c.1177G>A (p.Glu393Lys) n.126G>A c.166G>A (p.Glu56Lys) c.1111G>A (p.Glu371Lys) c.1063G>A (p.Glu355Lys) n.494G>A c.103G>A (p.Glu35Lys) c.-27G>A (n.-27G>A) | |
7 | g.44145637_44145638del | CA2695203044 | GCK | c.*1111_*1112del (n.*1111_*1112del) c.*233_*234del (n.*233_*234del) n.339_340del c.147_148del (p.Cys49Ter) c.1116_1117del (p.Cys372Ter) c.1113_1114del (p.Cys371Ter) c.1176_1177del (p.Cys392Ter) n.125_126del c.165_166del (p.Cys55Ter) c.1110_1111del (p.Cys370Ter) c.1062_1063del (p.Cys354Ter) n.493_494del c.102_103del (p.Cys34Ter) c.-28_-27del (n.-28_-27del) | |
7 | g.44145639_44145644dup | CA645372115 | GCK | c.*1107_*1112dup (n.*1107_*1112dup) c.*229_*234dup (n.*229_*234dup) n.335_340dup c.143_148dup (p.Cys49_Glu50insAlaCys) c.1112_1117dup (p.Cys372_Glu373insAlaCys) c.1109_1114dup (p.Cys371_Glu372insAlaCys) c.1172_1177dup (p.Cys392_Glu393insAlaCys) n.121_126dup c.161_166dup (p.Cys55_Glu56insAlaCys) c.1106_1111dup (p.Cys370_Glu371insAlaCys) c.1058_1063dup (p.Cys354_Glu355insAlaCys) n.489_494dup c.98_103dup (p.Cys34_Glu35insAlaCys) c.-32_-27dup (n.-32_-27dup) | |
7 | g.44145637G>A | CA4239430 | GCK | c.*1111C>T (n.*1111C>T) c.*233C>T (n.*233C>T) n.339C>T c.147C>T (p.Cys49=) c.1116C>T (p.Cys372=) c.1113C>T (p.Cys371=) c.1176C>T (p.Cys392=) n.125C>T c.165C>T (p.Cys55=) c.1110C>T (p.Cys370=) c.1062C>T (p.Cys354=) n.493C>T c.102C>T (p.Cys34=) c.-28C>T (n.-28C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44145637G>C | CA367398928 | GCK | c.*1111C>G (n.*1111C>G) c.*233C>G (n.*233C>G) n.339C>G c.147C>G (p.Cys49Trp) c.1116C>G (p.Cys372Trp) c.1113C>G (p.Cys371Trp) c.1176C>G (p.Cys392Trp) n.125C>G c.165C>G (p.Cys55Trp) c.1110C>G (p.Cys370Trp) c.1062C>G (p.Cys354Trp) n.493C>G c.102C>G (p.Cys34Trp) c.-28C>G (n.-28C>G) | ClinVar dbSNP |
7 | g.44145637G= | CA1703612934 | GCK | c.*1111C= (n.*1111C=) c.*233C= (n.*233C=) n.339C= c.147C= (p.Cys49=) c.1116C= (p.Cys372=) c.1113C= (p.Cys371=) c.1176C= (p.Cys392=) n.125C= c.165C= (p.Cys55=) c.1110C= (p.Cys370=) c.1062C= (p.Cys354=) n.493C= c.102C= (p.Cys34=) c.-28C= (n.-28C=) | |
7 | g.44145637G>T | CA367398930 | GCK | c.*1111C>A (n.*1111C>A) c.*233C>A (n.*233C>A) n.339C>A c.147C>A (p.Cys49Ter) c.1116C>A (p.Cys372Ter) c.1113C>A (p.Cys371Ter) c.1176C>A (p.Cys392Ter) n.125C>A c.165C>A (p.Cys55Ter) c.1110C>A (p.Cys370Ter) c.1062C>A (p.Cys354Ter) n.493C>A c.102C>A (p.Cys34Ter) c.-28C>A (n.-28C>A) | ClinVar dbSNP |
7 | g.44145638del | CA2695203045 | GCK | c.*1110del (n.*1110del) c.*232del (n.*232del) n.338del c.146del (p.Cys49SerfsTer?) c.1115del (p.Cys372SerfsTer?) c.1112del (p.Cys371SerfsTer?) c.1175del (p.Cys392SerfsTer?) n.124del c.164del (p.Cys55SerfsTer?) c.1109del (p.Cys370SerfsTer?) c.1061del (p.Cys354SerfsTer?) n.492del c.101del (p.Cys34SerfsTer?) c.-29del (n.-29del) | |
7 | g.44145638C>A | CA152950 | GCK | c.*1110G>T (n.*1110G>T) c.*232G>T (n.*232G>T) n.338G>T c.146G>T (p.Cys49Phe) c.1115G>T (p.Cys372Phe) c.1112G>T (p.Cys371Phe) c.1175G>T (p.Cys392Phe) n.124G>T c.164G>T (p.Cys55Phe) c.1109G>T (p.Cys370Phe) c.1061G>T (p.Cys354Phe) n.492G>T c.101G>T (p.Cys34Phe) c.-29G>T (n.-29G>T) | ClinVar dbSNP |
7 | g.44145638C= | CA1703612935 | GCK | c.*1110G= (n.*1110G=) c.*232G= (n.*232G=) n.338G= c.146G= (p.Cys49=) c.1115G= (p.Cys372=) c.1112G= (p.Cys371=) c.1175G= (p.Cys392=) n.124G= c.164G= (p.Cys55=) c.1109G= (p.Cys370=) c.1061G= (p.Cys354=) n.492G= c.101G= (p.Cys34=) c.-29G= (n.-29G=) | |
7 | g.44145638C>G | CA367398933 | GCK | c.*1110G>C (n.*1110G>C) c.*232G>C (n.*232G>C) n.338G>C c.146G>C (p.Cys49Ser) c.1115G>C (p.Cys372Ser) c.1112G>C (p.Cys371Ser) c.1175G>C (p.Cys392Ser) n.124G>C c.164G>C (p.Cys55Ser) c.1109G>C (p.Cys370Ser) c.1061G>C (p.Cys354Ser) n.492G>C c.101G>C (p.Cys34Ser) c.-29G>C (n.-29G>C) | |
7 | g.44145638C>T | CA367398935 | GCK | c.*1110G>A (n.*1110G>A) c.*232G>A (n.*232G>A) n.338G>A c.146G>A (p.Cys49Tyr) c.1115G>A (p.Cys372Tyr) c.1112G>A (p.Cys371Tyr) c.1175G>A (p.Cys392Tyr) n.124G>A c.164G>A (p.Cys55Tyr) c.1109G>A (p.Cys370Tyr) c.1061G>A (p.Cys354Tyr) n.492G>A c.101G>A (p.Cys34Tyr) c.-29G>A (n.-29G>A) | ClinVar dbSNP gnomAD v2 |
7 | g.44145639A>C | CA367398944 | GCK | c.*1109T>G (n.*1109T>G) c.*231T>G (n.*231T>G) n.337T>G c.145T>G (p.Cys49Gly) c.1114T>G (p.Cys372Gly) c.1111T>G (p.Cys371Gly) c.1174T>G (p.Cys392Gly) n.123T>G c.163T>G (p.Cys55Gly) c.1108T>G (p.Cys370Gly) c.1060T>G (p.Cys354Gly) n.491T>G c.100T>G (p.Cys34Gly) c.-30T>G (n.-30T>G) | ClinVar |
7 | g.44145639A>G | CA367398947 | GCK | c.*1109T>C (n.*1109T>C) c.*231T>C (n.*231T>C) n.337T>C c.145T>C (p.Cys49Arg) c.1114T>C (p.Cys372Arg) c.1111T>C (p.Cys371Arg) c.1174T>C (p.Cys392Arg) n.123T>C c.163T>C (p.Cys55Arg) c.1108T>C (p.Cys370Arg) c.1060T>C (p.Cys354Arg) n.491T>C c.100T>C (p.Cys34Arg) c.-30T>C (n.-30T>C) | ClinVar gnomAD v4 |
7 | g.44145639A>T | CA367398950 | GCK | c.*1109T>A (n.*1109T>A) c.*231T>A (n.*231T>A) n.337T>A c.145T>A (p.Cys49Ser) c.1114T>A (p.Cys372Ser) c.1111T>A (p.Cys371Ser) c.1174T>A (p.Cys392Ser) n.123T>A c.163T>A (p.Cys55Ser) c.1108T>A (p.Cys370Ser) c.1060T>A (p.Cys354Ser) n.491T>A c.100T>A (p.Cys34Ser) c.-30T>A (n.-30T>A) | |
7 | g.44145639_44145643dup | CA2695203046 | GCK | c.*1105_*1109dup (n.*1105_*1109dup) c.*227_*231dup (n.*227_*231dup) n.333_337dup c.141_145dup (p.Cys49SerfsTer?) c.1110_1114dup (p.Cys372SerfsTer?) c.1107_1111dup (p.Cys371SerfsTer?) c.1170_1174dup (p.Cys392SerfsTer?) n.119_123dup c.159_163dup (p.Cys55SerfsTer?) c.1104_1108dup (p.Cys370SerfsTer?) c.1056_1060dup (p.Cys354SerfsTer?) n.487_491dup c.96_100dup (p.Cys34SerfsTer?) c.-34_-30dup (n.-34_-30dup) | |
7 | g.44145640G>A | CA454863298 | GCK | c.*1108C>T (n.*1108C>T) c.*230C>T (n.*230C>T) n.336C>T c.144C>T (p.Ala48=) c.1113C>T (p.Ala371=) c.1110C>T (p.Ala370=) c.1173C>T (p.Ala391=) n.122C>T c.162C>T (p.Ala54=) c.1107C>T (p.Ala369=) c.1059C>T (p.Ala353=) n.490C>T c.99C>T (p.Ala33=) c.-31C>T (n.-31C>T) | |
7 | g.44145640G>C | CA454863300 | GCK | c.*1108C>G (n.*1108C>G) c.*230C>G (n.*230C>G) n.336C>G c.144C>G (p.Ala48=) c.1113C>G (p.Ala371=) c.1110C>G (p.Ala370=) c.1173C>G (p.Ala391=) n.122C>G c.162C>G (p.Ala54=) c.1107C>G (p.Ala369=) c.1059C>G (p.Ala353=) n.490C>G c.99C>G (p.Ala33=) c.-31C>G (n.-31C>G) | |
7 | g.44145640G>T | CA454863301 | GCK | c.*1108C>A (n.*1108C>A) c.*230C>A (n.*230C>A) n.336C>A c.144C>A (p.Ala48=) c.1113C>A (p.Ala371=) c.1110C>A (p.Ala370=) c.1173C>A (p.Ala391=) n.122C>A c.162C>A (p.Ala54=) c.1107C>A (p.Ala369=) c.1059C>A (p.Ala353=) n.490C>A c.99C>A (p.Ala33=) c.-31C>A (n.-31C>A) | gnomAD v4 |
7 | g.44145641G>A | CA367398952 | GCK | c.*1107C>T (n.*1107C>T) c.*229C>T (n.*229C>T) n.335C>T c.143C>T (p.Ala48Val) c.1112C>T (p.Ala371Val) c.1109C>T (p.Ala370Val) c.1172C>T (p.Ala391Val) n.121C>T c.161C>T (p.Ala54Val) c.1106C>T (p.Ala369Val) c.1058C>T (p.Ala353Val) n.489C>T c.98C>T (p.Ala33Val) c.-32C>T (n.-32C>T) | gnomAD v4 |
7 | g.44145641G>C | CA367398955 | GCK | c.*1107C>G (n.*1107C>G) c.*229C>G (n.*229C>G) n.335C>G c.143C>G (p.Ala48Gly) c.1112C>G (p.Ala371Gly) c.1109C>G (p.Ala370Gly) c.1172C>G (p.Ala391Gly) n.121C>G c.161C>G (p.Ala54Gly) c.1106C>G (p.Ala369Gly) c.1058C>G (p.Ala353Gly) n.489C>G c.98C>G (p.Ala33Gly) c.-32C>G (n.-32C>G) | |
7 | g.44145641G>T | CA367398957 | GCK | c.*1107C>A (n.*1107C>A) c.*229C>A (n.*229C>A) n.335C>A c.143C>A (p.Ala48Asp) c.1112C>A (p.Ala371Asp) c.1109C>A (p.Ala370Asp) c.1172C>A (p.Ala391Asp) n.121C>A c.161C>A (p.Ala54Asp) c.1106C>A (p.Ala369Asp) c.1058C>A (p.Ala353Asp) n.489C>A c.98C>A (p.Ala33Asp) c.-32C>A (n.-32C>A) | gnomAD v4 |
7 | g.44145642C>A | CA4239431 | GCK | c.*1106G>T (n.*1106G>T) c.*228G>T (n.*228G>T) n.334G>T c.142G>T (p.Ala48Ser) c.1111G>T (p.Ala371Ser) c.1108G>T (p.Ala370Ser) c.1171G>T (p.Ala391Ser) n.120G>T c.160G>T (p.Ala54Ser) c.1105G>T (p.Ala369Ser) c.1057G>T (p.Ala353Ser) n.488G>T c.97G>T (p.Ala33Ser) c.-33G>T (n.-33G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44145642C= | CA1703612936 | GCK | c.*1106G= (n.*1106G=) c.*228G= (n.*228G=) n.334G= c.142G= (p.Ala48=) c.1111G= (p.Ala371=) c.1108G= (p.Ala370=) c.1171G= (p.Ala391=) n.120G= c.160G= (p.Ala54=) c.1105G= (p.Ala369=) c.1057G= (p.Ala353=) n.488G= c.97G= (p.Ala33=) c.-33G= (n.-33G=) | |
7 | g.44145642C>G | CA367398963 | GCK | c.*1106G>C (n.*1106G>C) c.*228G>C (n.*228G>C) n.334G>C c.142G>C (p.Ala48Pro) c.1111G>C (p.Ala371Pro) c.1108G>C (p.Ala370Pro) c.1171G>C (p.Ala391Pro) n.120G>C c.160G>C (p.Ala54Pro) c.1105G>C (p.Ala369Pro) c.1057G>C (p.Ala353Pro) n.488G>C c.97G>C (p.Ala33Pro) c.-33G>C (n.-33G>C) | ClinVar |
7 | g.44145642C>T | CA367398961 | GCK | c.*1106G>A (n.*1106G>A) c.*228G>A (n.*228G>A) n.334G>A c.142G>A (p.Ala48Thr) c.1111G>A (p.Ala371Thr) c.1108G>A (p.Ala370Thr) c.1171G>A (p.Ala391Thr) n.120G>A c.160G>A (p.Ala54Thr) c.1105G>A (p.Ala369Thr) c.1057G>A (p.Ala353Thr) n.488G>A c.97G>A (p.Ala33Thr) c.-33G>A (n.-33G>A) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145643G>A | CA454863304 | GCK | c.*1105C>T (n.*1105C>T) c.*227C>T (n.*227C>T) n.333C>T c.141C>T (p.Arg47=) c.1110C>T (p.Arg370=) c.1107C>T (p.Arg369=) c.1170C>T (p.Arg390=) n.119C>T c.159C>T (p.Arg53=) c.1104C>T (p.Arg368=) c.1056C>T (p.Arg352=) n.487C>T c.96C>T (p.Arg32=) c.-34C>T (n.-34C>T) | gnomAD v4 |
7 | g.44145643G>C | CA454863305 | GCK | c.*1105C>G (n.*1105C>G) c.*227C>G (n.*227C>G) n.333C>G c.141C>G (p.Arg47=) c.1110C>G (p.Arg370=) c.1107C>G (p.Arg369=) c.1170C>G (p.Arg390=) n.119C>G c.159C>G (p.Arg53=) c.1104C>G (p.Arg368=) c.1056C>G (p.Arg352=) n.487C>G c.96C>G (p.Arg32=) c.-34C>G (n.-34C>G) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145643G= | CA1703612937 | GCK | c.*1105C= (n.*1105C=) c.*227C= (n.*227C=) n.333C= c.141C= (p.Arg47=) c.1110C= (p.Arg370=) c.1107C= (p.Arg369=) c.1170C= (p.Arg390=) n.119C= c.159C= (p.Arg53=) c.1104C= (p.Arg368=) c.1056C= (p.Arg352=) n.487C= c.96C= (p.Arg32=) c.-34C= (n.-34C=) | |
7 | g.44145643G>T | CA454863307 | GCK | c.*1105C>A (n.*1105C>A) c.*227C>A (n.*227C>A) n.333C>A c.141C>A (p.Arg47=) c.1110C>A (p.Arg370=) c.1107C>A (p.Arg369=) c.1170C>A (p.Arg390=) n.119C>A c.159C>A (p.Arg53=) c.1104C>A (p.Arg368=) c.1056C>A (p.Arg352=) n.487C>A c.96C>A (p.Arg32=) c.-34C>A (n.-34C>A) | gnomAD v4 |
7 | g.44145644C>A | CA367398966 | GCK | c.*1104G>T (n.*1104G>T) c.*226G>T (n.*226G>T) n.332G>T c.140G>T (p.Arg47Leu) c.1109G>T (p.Arg370Leu) c.1106G>T (p.Arg369Leu) c.1169G>T (p.Arg390Leu) n.118G>T c.158G>T (p.Arg53Leu) c.1103G>T (p.Arg368Leu) c.1055G>T (p.Arg352Leu) n.486G>T n.404G>T c.95G>T (p.Arg32Leu) c.-35G>T (n.-35G>T) | gnomAD v4 |
7 | g.44145644C= | CA1703612938 | GCK | c.*1104G= (n.*1104G=) c.*226G= (n.*226G=) n.332G= c.140G= (p.Arg47=) c.1109G= (p.Arg370=) c.1106G= (p.Arg369=) c.1169G= (p.Arg390=) n.118G= c.158G= (p.Arg53=) c.1103G= (p.Arg368=) c.1055G= (p.Arg352=) n.486G= n.404G= c.95G= (p.Arg32=) c.-35G= (n.-35G=) | |
7 | g.44145644C>G | CA367398967 | GCK | c.*1104G>C (n.*1104G>C) c.*226G>C (n.*226G>C) n.332G>C c.140G>C (p.Arg47Pro) c.1109G>C (p.Arg370Pro) c.1106G>C (p.Arg369Pro) c.1169G>C (p.Arg390Pro) n.118G>C c.158G>C (p.Arg53Pro) c.1103G>C (p.Arg368Pro) c.1055G>C (p.Arg352Pro) n.486G>C n.404G>C c.95G>C (p.Arg32Pro) c.-35G>C (n.-35G>C) | ClinVar |
7 | g.44145644C>T | CA367398969 | GCK | c.*1104G>A (n.*1104G>A) c.*226G>A (n.*226G>A) n.332G>A c.140G>A (p.Arg47His) c.1109G>A (p.Arg370His) c.1106G>A (p.Arg369His) c.1169G>A (p.Arg390His) n.118G>A c.158G>A (p.Arg53His) c.1103G>A (p.Arg368His) c.1055G>A (p.Arg352His) n.486G>A n.404G>A c.95G>A (p.Arg32His) c.-35G>A (n.-35G>A) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145645G>A | CA4239433 | GCK | c.*1103C>T (n.*1103C>T) c.*225C>T (n.*225C>T) n.331C>T c.139C>T (p.Arg47Cys) c.1108C>T (p.Arg370Cys) c.1105C>T (p.Arg369Cys) c.1168C>T (p.Arg390Cys) n.117C>T c.157C>T (p.Arg53Cys) c.1102C>T (p.Arg368Cys) c.1054C>T (p.Arg352Cys) n.485C>T n.403C>T c.94C>T (p.Arg32Cys) c.-36C>T (n.-36C>T) | dbSNP ExAC gnomAD v2 COSMIC COSMIC COSMIC |
7 | g.44145645G>C | CA4239432 | GCK | c.*1103C>G (n.*1103C>G) c.*225C>G (n.*225C>G) n.331C>G c.139C>G (p.Arg47Gly) c.1108C>G (p.Arg370Gly) c.1105C>G (p.Arg369Gly) c.1168C>G (p.Arg390Gly) n.117C>G c.157C>G (p.Arg53Gly) c.1102C>G (p.Arg368Gly) c.1054C>G (p.Arg352Gly) n.485C>G n.403C>G c.94C>G (p.Arg32Gly) c.-36C>G (n.-36C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.44145645G= | CA1703612939 | GCK | c.*1103C= (n.*1103C=) c.*225C= (n.*225C=) n.331C= c.139C= (p.Arg47=) c.1108C= (p.Arg370=) c.1105C= (p.Arg369=) c.1168C= (p.Arg390=) n.117C= c.157C= (p.Arg53=) c.1102C= (p.Arg368=) c.1054C= (p.Arg352=) n.485C= n.403C= c.94C= (p.Arg32=) c.-36C= (n.-36C=) | |
7 | g.44145645G>T | CA367398973 | GCK | c.*1103C>A (n.*1103C>A) c.*225C>A (n.*225C>A) n.331C>A c.139C>A (p.Arg47Ser) c.1108C>A (p.Arg370Ser) c.1105C>A (p.Arg369Ser) c.1168C>A (p.Arg390Ser) n.117C>A c.157C>A (p.Arg53Ser) c.1102C>A (p.Arg368Ser) c.1054C>A (p.Arg352Ser) n.485C>A n.403C>A c.94C>A (p.Arg32Ser) c.-36C>A (n.-36C>A) | dbSNP gnomAD v4 |
7 | g.44145646G>A | CA454863315 | GCK | c.*1102C>T (n.*1102C>T) c.*224C>T (n.*224C>T) n.330C>T c.138C>T (p.Arg46=) c.1107C>T (p.Arg369=) c.1104C>T (p.Arg368=) c.1167C>T (p.Arg389=) n.116C>T c.156C>T (p.Arg52=) c.1101C>T (p.Arg367=) c.1053C>T (p.Arg351=) n.484C>T n.402C>T c.93C>T (p.Arg31=) c.-37C>T (n.-37C>T) | gnomAD v4 |
7 | g.44145646G>C | CA454863317 | GCK | c.*1102C>G (n.*1102C>G) c.*224C>G (n.*224C>G) n.330C>G c.138C>G (p.Arg46=) c.1107C>G (p.Arg369=) c.1104C>G (p.Arg368=) c.1167C>G (p.Arg389=) n.116C>G c.156C>G (p.Arg52=) c.1101C>G (p.Arg367=) c.1053C>G (p.Arg351=) n.484C>G n.402C>G c.93C>G (p.Arg31=) c.-37C>G (n.-37C>G) | |
7 | g.44145646G>T | CA454863318 | GCK | c.*1102C>A (n.*1102C>A) c.*224C>A (n.*224C>A) n.330C>A c.138C>A (p.Arg46=) c.1107C>A (p.Arg369=) c.1104C>A (p.Arg368=) c.1167C>A (p.Arg389=) n.116C>A c.156C>A (p.Arg52=) c.1101C>A (p.Arg367=) c.1053C>A (p.Arg351=) n.484C>A n.402C>A c.93C>A (p.Arg31=) c.-37C>A (n.-37C>A) | gnomAD v4 |
7 | g.44145647C>A | CA367398976 | GCK | c.*1101G>T (n.*1101G>T) c.*223G>T (n.*223G>T) n.329G>T c.137G>T (p.Arg46Leu) c.1106G>T (p.Arg369Leu) c.1103G>T (p.Arg368Leu) c.1166G>T (p.Arg389Leu) n.115G>T c.155G>T (p.Arg52Leu) c.1100G>T (p.Arg367Leu) c.1052G>T (p.Arg351Leu) n.483G>T n.401G>T c.92G>T (p.Arg31Leu) c.-38G>T (n.-38G>T) | |
7 | g.44145647C>G | CA367398978 | GCK | c.*1101G>C (n.*1101G>C) c.*223G>C (n.*223G>C) n.329G>C c.137G>C (p.Arg46Pro) c.1106G>C (p.Arg369Pro) c.1103G>C (p.Arg368Pro) c.1166G>C (p.Arg389Pro) n.115G>C c.155G>C (p.Arg52Pro) c.1100G>C (p.Arg367Pro) c.1052G>C (p.Arg351Pro) n.483G>C n.401G>C c.92G>C (p.Arg31Pro) c.-38G>C (n.-38G>C) | |
7 | g.44145647C>T | CA367398980 | GCK | c.*1101G>A (n.*1101G>A) c.*223G>A (n.*223G>A) n.329G>A c.137G>A (p.Arg46His) c.1106G>A (p.Arg369His) c.1103G>A (p.Arg368His) c.1166G>A (p.Arg389His) n.115G>A c.155G>A (p.Arg52His) c.1100G>A (p.Arg367His) c.1052G>A (p.Arg351His) n.483G>A n.401G>A c.92G>A (p.Arg31His) c.-38G>A (n.-38G>A) | gnomAD v4 |
7 | g.44145648_44145683del | CA2695203047 | GCK | c.*1066_*1101del (n.*1066_*1101del) c.*188_*223del (n.*188_*223del) n.294_329del c.102_137del (p.Leu35_Arg46del) c.1071_1106del (p.Leu358_Arg369del) c.1068_1103del (p.Leu357_Arg368del) c.1131_1166del (p.Leu378_Arg389del) n.80_115del c.120_155del (p.Leu41_Arg52del) c.1065_1100del (p.Leu356_Arg367del) c.1017_1052del (p.Leu340_Arg351del) n.448_483del n.366_401del c.57_92del (p.Leu20_Arg31del) c.-73_-38del (n.-73_-38del) | |
7 | g.44145648G>A | CA367398984 | GCK | c.*1100C>T (n.*1100C>T) c.*222C>T (n.*222C>T) n.328C>T c.136C>T (p.Arg46Cys) c.1105C>T (p.Arg369Cys) c.1102C>T (p.Arg368Cys) c.1165C>T (p.Arg389Cys) n.114C>T c.154C>T (p.Arg52Cys) c.1099C>T (p.Arg367Cys) c.1051C>T (p.Arg351Cys) n.482C>T n.400C>T c.91C>T (p.Arg31Cys) c.-39C>T (n.-39C>T) | gnomAD v4 |
7 | g.44145648G>C | CA367398986 | GCK | c.*1100C>G (n.*1100C>G) c.*222C>G (n.*222C>G) n.328C>G c.136C>G (p.Arg46Gly) c.1105C>G (p.Arg369Gly) c.1102C>G (p.Arg368Gly) c.1165C>G (p.Arg389Gly) n.114C>G c.154C>G (p.Arg52Gly) c.1099C>G (p.Arg367Gly) c.1051C>G (p.Arg351Gly) n.482C>G n.400C>G c.91C>G (p.Arg31Gly) c.-39C>G (n.-39C>G) | dbSNP |
7 | g.44145648G= | CA1703612940 | GCK | c.*1100C= (n.*1100C=) c.*222C= (n.*222C=) n.328C= c.136C= (p.Arg46=) c.1105C= (p.Arg369=) c.1102C= (p.Arg368=) c.1165C= (p.Arg389=) n.114C= c.154C= (p.Arg52=) c.1099C= (p.Arg367=) c.1051C= (p.Arg351=) n.482C= n.400C= c.91C= (p.Arg31=) c.-39C= (n.-39C=) | |
7 | g.44145648G>T | CA367398982 | GCK | c.*1100C>A (n.*1100C>A) c.*222C>A (n.*222C>A) n.328C>A c.136C>A (p.Arg46Ser) c.1105C>A (p.Arg369Ser) c.1102C>A (p.Arg368Ser) c.1165C>A (p.Arg389Ser) n.114C>A c.154C>A (p.Arg52Ser) c.1099C>A (p.Arg367Ser) c.1051C>A (p.Arg351Ser) n.482C>A n.400C>A c.91C>A (p.Arg31Ser) c.-39C>A (n.-39C>A) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145649C>A | CA454863041 | GCK | c.*1099G>T (n.*1099G>T) c.*221G>T (n.*221G>T) n.327G>T c.135G>T (p.Val45=) c.1104G>T (p.Val368=) c.1101G>T (p.Val367=) c.1164G>T (p.Val388=) n.113G>T c.153G>T (p.Val51=) c.1098G>T (p.Val366=) c.1050G>T (p.Val350=) n.481G>T n.399G>T c.90G>T (p.Val30=) c.-40G>T (n.-40G>T) | |
7 | g.44145649C= | CA1703612941 | GCK | c.*1099G= (n.*1099G=) c.*221G= (n.*221G=) n.327G= c.135G= (p.Val45=) c.1104G= (p.Val368=) c.1101G= (p.Val367=) c.1164G= (p.Val388=) n.113G= c.153G= (p.Val51=) c.1098G= (p.Val366=) c.1050G= (p.Val350=) n.481G= n.399G= c.90G= (p.Val30=) c.-40G= (n.-40G=) | |
7 | g.44145649C>G | CA454863043 | GCK | c.*1099G>C (n.*1099G>C) c.*221G>C (n.*221G>C) n.327G>C c.135G>C (p.Val45=) c.1104G>C (p.Val368=) c.1101G>C (p.Val367=) c.1164G>C (p.Val388=) n.113G>C c.153G>C (p.Val51=) c.1098G>C (p.Val366=) c.1050G>C (p.Val350=) n.481G>C n.399G>C c.90G>C (p.Val30=) c.-40G>C (n.-40G>C) | dbSNP |
7 | g.44145649C>T | CA454863042 | GCK | c.*1099G>A (n.*1099G>A) c.*221G>A (n.*221G>A) n.327G>A c.135G>A (p.Val45=) c.1104G>A (p.Val368=) c.1101G>A (p.Val367=) c.1164G>A (p.Val388=) n.113G>A c.153G>A (p.Val51=) c.1098G>A (p.Val366=) c.1050G>A (p.Val350=) n.481G>A n.399G>A c.90G>A (p.Val30=) c.-40G>A (n.-40G>A) | |
7 | g.44145650A>C | CA367398987 | GCK | c.*1098T>G (n.*1098T>G) c.*220T>G (n.*220T>G) n.326T>G c.134T>G (p.Val45Gly) c.1103T>G (p.Val368Gly) c.1100T>G (p.Val367Gly) c.1163T>G (p.Val388Gly) n.112T>G c.152T>G (p.Val51Gly) c.1097T>G (p.Val366Gly) c.1049T>G (p.Val350Gly) n.480T>G n.398T>G c.89T>G (p.Val30Gly) c.-41T>G (n.-41T>G) | |
7 | g.44145650A>G | CA367398990 | GCK | c.*1098T>C (n.*1098T>C) c.*220T>C (n.*220T>C) n.326T>C c.134T>C (p.Val45Ala) c.1103T>C (p.Val368Ala) c.1100T>C (p.Val367Ala) c.1163T>C (p.Val388Ala) n.112T>C c.152T>C (p.Val51Ala) c.1097T>C (p.Val366Ala) c.1049T>C (p.Val350Ala) n.480T>C n.398T>C c.89T>C (p.Val30Ala) c.-41T>C (n.-41T>C) | |
7 | g.44145650A>T | CA367398993 | GCK | c.*1098T>A (n.*1098T>A) c.*220T>A (n.*220T>A) n.326T>A c.134T>A (p.Val45Glu) c.1103T>A (p.Val368Glu) c.1100T>A (p.Val367Glu) c.1163T>A (p.Val388Glu) n.112T>A c.152T>A (p.Val51Glu) c.1097T>A (p.Val366Glu) c.1049T>A (p.Val350Glu) n.480T>A n.398T>A c.89T>A (p.Val30Glu) c.-41T>A (n.-41T>A) | |
7 | g.44145651C>A | CA367398995 | GCK | c.*1097G>T (n.*1097G>T) c.*219G>T (n.*219G>T) n.325G>T c.133G>T (p.Val45Leu) c.1102G>T (p.Val368Leu) c.1099G>T (p.Val367Leu) c.1162G>T (p.Val388Leu) n.111G>T c.151G>T (p.Val51Leu) c.1096G>T (p.Val366Leu) c.1048G>T (p.Val350Leu) n.479G>T n.397G>T c.88G>T (p.Val30Leu) c.-42G>T (n.-42G>T) | ClinVar |
7 | g.44145651C= | CA1703612942 | GCK | c.*1097G= (n.*1097G=) c.*219G= (n.*219G=) n.325G= c.133G= (p.Val45=) c.1102G= (p.Val368=) c.1099G= (p.Val367=) c.1162G= (p.Val388=) n.111G= c.151G= (p.Val51=) c.1096G= (p.Val366=) c.1048G= (p.Val350=) n.479G= n.397G= c.88G= (p.Val30=) c.-42G= (n.-42G=) | |
7 | g.44145651C>G | CA367398997 | GCK | c.*1097G>C (n.*1097G>C) c.*219G>C (n.*219G>C) n.325G>C c.133G>C (p.Val45Leu) c.1102G>C (p.Val368Leu) c.1099G>C (p.Val367Leu) c.1162G>C (p.Val388Leu) n.111G>C c.151G>C (p.Val51Leu) c.1096G>C (p.Val366Leu) c.1048G>C (p.Val350Leu) n.479G>C n.397G>C c.88G>C (p.Val30Leu) c.-42G>C (n.-42G>C) | |
7 | g.44145651C>T | CA16605802 | GCK | c.*1097G>A (n.*1097G>A) c.*219G>A (n.*219G>A) n.325G>A c.133G>A (p.Val45Met) c.1102G>A (p.Val368Met) c.1099G>A (p.Val367Met) c.1162G>A (p.Val388Met) n.111G>A c.151G>A (p.Val51Met) c.1096G>A (p.Val366Met) c.1048G>A (p.Val350Met) n.479G>A n.397G>A c.88G>A (p.Val30Met) c.-42G>A (n.-42G>A) | ClinVar dbSNP gnomAD v4 |
7 | g.44145652G>A | CA454863044 | GCK | c.*1096C>T (n.*1096C>T) c.*218C>T (n.*218C>T) n.324C>T c.132C>T (p.Ile44=) c.1101C>T (p.Ile367=) c.1098C>T (p.Ile366=) c.1161C>T (p.Ile387=) n.110C>T c.150C>T (p.Ile50=) c.1095C>T (p.Ile365=) c.1047C>T (p.Ile349=) n.478C>T n.396C>T c.87C>T (p.Ile29=) c.-43C>T (n.-43C>T) | ClinVar dbSNP gnomAD v4 |
7 | g.44145652G>C | CA367399000 | GCK | c.*1096C>G (n.*1096C>G) c.*218C>G (n.*218C>G) n.324C>G c.132C>G (p.Ile44Met) c.1101C>G (p.Ile367Met) c.1098C>G (p.Ile366Met) c.1161C>G (p.Ile387Met) n.110C>G c.150C>G (p.Ile50Met) c.1095C>G (p.Ile365Met) c.1047C>G (p.Ile349Met) n.478C>G n.396C>G c.87C>G (p.Ile29Met) c.-43C>G (n.-43C>G) | gnomAD v4 |
7 | g.44145652G>T | CA454863045 | GCK | c.*1096C>A (n.*1096C>A) c.*218C>A (n.*218C>A) n.324C>A c.132C>A (p.Ile44=) c.1101C>A (p.Ile367=) c.1098C>A (p.Ile366=) c.1161C>A (p.Ile387=) n.110C>A c.150C>A (p.Ile50=) c.1095C>A (p.Ile365=) c.1047C>A (p.Ile349=) n.478C>A n.396C>A c.87C>A (p.Ile29=) c.-43C>A (n.-43C>A) | gnomAD v4 |
7 | g.44145653A>C | CA367399003 | GCK | c.*1095T>G (n.*1095T>G) c.*217T>G (n.*217T>G) n.323T>G c.131T>G (p.Ile44Ser) c.1100T>G (p.Ile367Ser) c.1097T>G (p.Ile366Ser) c.1160T>G (p.Ile387Ser) n.109T>G c.149T>G (p.Ile50Ser) c.1094T>G (p.Ile365Ser) c.1046T>G (p.Ile349Ser) n.477T>G n.395T>G c.86T>G (p.Ile29Ser) c.-44T>G (n.-44T>G) | |
7 | g.44145653A>G | CA367399005 | GCK | c.*1095T>C (n.*1095T>C) c.*217T>C (n.*217T>C) n.323T>C c.131T>C (p.Ile44Thr) c.1100T>C (p.Ile367Thr) c.1097T>C (p.Ile366Thr) c.1160T>C (p.Ile387Thr) n.109T>C c.149T>C (p.Ile50Thr) c.1094T>C (p.Ile365Thr) c.1046T>C (p.Ile349Thr) n.477T>C n.395T>C c.86T>C (p.Ile29Thr) c.-44T>C (n.-44T>C) | |
7 | g.44145653A>T | CA367399008 | GCK | c.*1095T>A (n.*1095T>A) c.*217T>A (n.*217T>A) n.323T>A c.131T>A (p.Ile44Asn) c.1100T>A (p.Ile367Asn) c.1097T>A (p.Ile366Asn) c.1160T>A (p.Ile387Asn) n.109T>A c.149T>A (p.Ile50Asn) c.1094T>A (p.Ile365Asn) c.1046T>A (p.Ile349Asn) n.477T>A n.395T>A c.86T>A (p.Ile29Asn) c.-44T>A (n.-44T>A) | |
7 | g.44145654T>A | CA367399011 | GCK | c.*1094A>T (n.*1094A>T) c.*216A>T (n.*216A>T) n.322A>T c.130A>T (p.Ile44Phe) c.1099A>T (p.Ile367Phe) c.1096A>T (p.Ile366Phe) c.1159A>T (p.Ile387Phe) n.108A>T c.148A>T (p.Ile50Phe) c.1093A>T (p.Ile365Phe) c.1045A>T (p.Ile349Phe) n.476A>T n.394A>T c.85A>T (p.Ile29Phe) c.-45A>T (n.-45A>T) | |
7 | g.44145654T>C | CA367399014 | GCK | c.*1094A>G (n.*1094A>G) c.*216A>G (n.*216A>G) n.322A>G c.130A>G (p.Ile44Val) c.1099A>G (p.Ile367Val) c.1096A>G (p.Ile366Val) c.1159A>G (p.Ile387Val) n.108A>G c.148A>G (p.Ile50Val) c.1093A>G (p.Ile365Val) c.1045A>G (p.Ile349Val) n.476A>G n.394A>G c.85A>G (p.Ile29Val) c.-45A>G (n.-45A>G) | |
7 | g.44145654T>G | CA367399016 | GCK | c.*1094A>C (n.*1094A>C) c.*216A>C (n.*216A>C) n.322A>C c.130A>C (p.Ile44Leu) c.1099A>C (p.Ile367Leu) c.1096A>C (p.Ile366Leu) c.1159A>C (p.Ile387Leu) n.108A>C c.148A>C (p.Ile50Leu) c.1093A>C (p.Ile365Leu) c.1045A>C (p.Ile349Leu) n.476A>C n.394A>C c.85A>C (p.Ile29Leu) c.-45A>C (n.-45A>C) | |
7 | g.44145655G>A | CA454863046 | GCK | c.*1093C>T (n.*1093C>T) c.*215C>T (n.*215C>T) n.321C>T c.129C>T (p.Asp43=) c.1098C>T (p.Asp366=) c.1095C>T (p.Asp365=) c.1158C>T (p.Asp386=) n.107C>T c.147C>T (p.Asp49=) c.1092C>T (p.Asp364=) c.1044C>T (p.Asp348=) n.475C>T n.393C>T c.84C>T (p.Asp28=) c.-46C>T (n.-46C>T) | |
7 | g.44145655G>C | CA367399022 | GCK | c.*1093C>G (n.*1093C>G) c.*215C>G (n.*215C>G) n.321C>G c.129C>G (p.Asp43Glu) c.1098C>G (p.Asp366Glu) c.1095C>G (p.Asp365Glu) c.1158C>G (p.Asp386Glu) n.107C>G c.147C>G (p.Asp49Glu) c.1092C>G (p.Asp364Glu) c.1044C>G (p.Asp348Glu) n.475C>G n.393C>G c.84C>G (p.Asp28Glu) c.-46C>G (n.-46C>G) | |
7 | g.44145655G>T | CA367399021 | GCK | c.*1093C>A (n.*1093C>A) c.*215C>A (n.*215C>A) n.321C>A c.129C>A (p.Asp43Glu) c.1098C>A (p.Asp366Glu) c.1095C>A (p.Asp365Glu) c.1158C>A (p.Asp386Glu) n.107C>A c.147C>A (p.Asp49Glu) c.1092C>A (p.Asp364Glu) c.1044C>A (p.Asp348Glu) n.475C>A n.393C>A c.84C>A (p.Asp28Glu) c.-46C>A (n.-46C>A) | gnomAD v4 |
7 | g.44145659_44145660insTCGTCGC | CA2695203048 | GCK | c.*1093_*1094insGAGCGAC (n.*1093_*1094insGAGCGAC) c.*215_*216insGAGCGAC (n.*215_*216insGAGCGAC) n.321_322insGAGCGAC c.129_130insGAGCGAC (p.Ile44GlufsTer?) c.1098_1099insGAGCGAC (p.Ile367GlufsTer?) c.1095_1096insGAGCGAC (p.Ile366GlufsTer?) c.1158_1159insGAGCGAC (p.Ile387GlufsTer?) n.107_108insGAGCGAC c.147_148insGAGCGAC (p.Ile50GlufsTer?) c.1092_1093insGAGCGAC (p.Ile365GlufsTer?) c.1044_1045insGAGCGAC (p.Ile349GlufsTer?) n.475_476insGAGCGAC n.393_394insGAGCGAC c.84_85insGAGCGAC (p.Ile29GlufsTer?) c.-46_-45insGAGCGAC (n.-46_-45insGAGCGAC) | |
7 | g.44145656T>A | CA367399024 | GCK | c.*1092A>T (n.*1092A>T) c.*214A>T (n.*214A>T) n.320A>T c.128A>T (p.Asp43Val) c.1097A>T (p.Asp366Val) c.1094A>T (p.Asp365Val) c.1157A>T (p.Asp386Val) n.106A>T c.146A>T (p.Asp49Val) c.1091A>T (p.Asp364Val) c.1043A>T (p.Asp348Val) n.474A>T n.392A>T c.83A>T (p.Asp28Val) c.-47A>T (n.-47A>T) | |
7 | g.44145656T>C | CA367399025 | GCK | c.*1092A>G (n.*1092A>G) c.*214A>G (n.*214A>G) n.320A>G c.128A>G (p.Asp43Gly) c.1097A>G (p.Asp366Gly) c.1094A>G (p.Asp365Gly) c.1157A>G (p.Asp386Gly) n.106A>G c.146A>G (p.Asp49Gly) c.1091A>G (p.Asp364Gly) c.1043A>G (p.Asp348Gly) n.474A>G n.392A>G c.83A>G (p.Asp28Gly) c.-47A>G (n.-47A>G) | |
7 | g.44145656T>G | CA367399028 | GCK | c.*1092A>C (n.*1092A>C) c.*214A>C (n.*214A>C) n.320A>C c.128A>C (p.Asp43Ala) c.1097A>C (p.Asp366Ala) c.1094A>C (p.Asp365Ala) c.1157A>C (p.Asp386Ala) n.106A>C c.146A>C (p.Asp49Ala) c.1091A>C (p.Asp364Ala) c.1043A>C (p.Asp348Ala) n.474A>C n.392A>C c.83A>C (p.Asp28Ala) c.-47A>C (n.-47A>C) | |
7 | g.44145656_44145659dup | CA2695203049 | GCK | c.*1089_*1092dup (n.*1089_*1092dup) c.*211_*214dup (n.*211_*214dup) n.317_320dup c.125_128dup (p.Asp43GlufsTer?) c.1094_1097dup (p.Asp366GlufsTer?) c.1091_1094dup (p.Asp365GlufsTer?) c.1154_1157dup (p.Asp386GlufsTer?) n.103_106dup c.143_146dup (p.Asp49GlufsTer?) c.1088_1091dup (p.Asp364GlufsTer?) c.1040_1043dup (p.Asp348GlufsTer?) n.471_474dup n.389_392dup c.80_83dup (p.Asp28GlufsTer?) c.-50_-47dup (n.-50_-47dup) | |
7 | g.44145657C>A | CA367399031 | GCK | c.*1091G>T (n.*1091G>T) c.*213G>T (n.*213G>T) n.319G>T c.127G>T (p.Asp43Tyr) c.1096G>T (p.Asp366Tyr) c.1093G>T (p.Asp365Tyr) c.1156G>T (p.Asp386Tyr) n.105G>T c.145G>T (p.Asp49Tyr) c.1090G>T (p.Asp364Tyr) c.1042G>T (p.Asp348Tyr) n.473G>T n.391G>T c.82G>T (p.Asp28Tyr) c.-48G>T (n.-48G>T) | |
7 | g.44145657C>G | CA367399033 | GCK | c.*1091G>C (n.*1091G>C) c.*213G>C (n.*213G>C) n.319G>C c.127G>C (p.Asp43His) c.1096G>C (p.Asp366His) c.1093G>C (p.Asp365His) c.1156G>C (p.Asp386His) n.105G>C c.145G>C (p.Asp49His) c.1090G>C (p.Asp364His) c.1042G>C (p.Asp348His) n.473G>C n.391G>C c.82G>C (p.Asp28His) c.-48G>C (n.-48G>C) | |
7 | g.44145657C>T | CA367399036 | GCK | c.*1091G>A (n.*1091G>A) c.*213G>A (n.*213G>A) n.319G>A c.127G>A (p.Asp43Asn) c.1096G>A (p.Asp366Asn) c.1093G>A (p.Asp365Asn) c.1156G>A (p.Asp386Asn) n.105G>A c.145G>A (p.Asp49Asn) c.1090G>A (p.Asp364Asn) c.1042G>A (p.Asp348Asn) n.473G>A n.391G>A c.82G>A (p.Asp28Asn) c.-48G>A (n.-48G>A) | ClinVar |
7 | g.44145658G>A | CA454863047 | GCK | c.*1090C>T (n.*1090C>T) c.*212C>T (n.*212C>T) n.318C>T c.126C>T (p.Cys42=) c.1095C>T (p.Cys365=) c.1092C>T (p.Cys364=) c.1155C>T (p.Cys385=) n.104C>T c.144C>T (p.Cys48=) c.1089C>T (p.Cys363=) c.1041C>T (p.Cys347=) n.472C>T n.390C>T c.81C>T (p.Cys27=) c.-49C>T (n.-49C>T) | gnomAD v4 COSMIC COSMIC COSMIC |
7 | g.44145658G>C | CA367399038 | GCK | c.*1090C>G (n.*1090C>G) c.*212C>G (n.*212C>G) n.318C>G c.126C>G (p.Cys42Trp) c.1095C>G (p.Cys365Trp) c.1092C>G (p.Cys364Trp) c.1155C>G (p.Cys385Trp) n.104C>G c.144C>G (p.Cys48Trp) c.1089C>G (p.Cys363Trp) c.1041C>G (p.Cys347Trp) n.472C>G n.390C>G c.81C>G (p.Cys27Trp) c.-49C>G (n.-49C>G) | |
7 | g.44145658G>T | CA367399040 | GCK | c.*1090C>A (n.*1090C>A) c.*212C>A (n.*212C>A) n.318C>A c.126C>A (p.Cys42Ter) c.1095C>A (p.Cys365Ter) c.1092C>A (p.Cys364Ter) c.1155C>A (p.Cys385Ter) n.104C>A c.144C>A (p.Cys48Ter) c.1089C>A (p.Cys363Ter) c.1041C>A (p.Cys347Ter) n.472C>A n.390C>A c.81C>A (p.Cys27Ter) c.-49C>A (n.-49C>A) | gnomAD v4 |
7 | g.44145659C>A | CA367399044 | GCK | c.*1089G>T (n.*1089G>T) c.*211G>T (n.*211G>T) n.317G>T c.125G>T (p.Cys42Phe) c.1094G>T (p.Cys365Phe) c.1091G>T (p.Cys364Phe) c.1154G>T (p.Cys385Phe) n.103G>T c.143G>T (p.Cys48Phe) c.1088G>T (p.Cys363Phe) c.1040G>T (p.Cys347Phe) n.471G>T n.389G>T c.80G>T (p.Cys27Phe) c.-50G>T (n.-50G>T) | gnomAD v4 |
7 | g.44145659C>G | CA367399046 | GCK | c.*1089G>C (n.*1089G>C) c.*211G>C (n.*211G>C) n.317G>C c.125G>C (p.Cys42Ser) c.1094G>C (p.Cys365Ser) c.1091G>C (p.Cys364Ser) c.1154G>C (p.Cys385Ser) n.103G>C c.143G>C (p.Cys48Ser) c.1088G>C (p.Cys363Ser) c.1040G>C (p.Cys347Ser) n.471G>C n.389G>C c.80G>C (p.Cys27Ser) c.-50G>C (n.-50G>C) | |
7 | g.44145659C>T | CA367399048 | GCK | c.*1089G>A (n.*1089G>A) c.*211G>A (n.*211G>A) n.317G>A c.125G>A (p.Cys42Tyr) c.1094G>A (p.Cys365Tyr) c.1091G>A (p.Cys364Tyr) c.1154G>A (p.Cys385Tyr) n.103G>A c.143G>A (p.Cys48Tyr) c.1088G>A (p.Cys363Tyr) c.1040G>A (p.Cys347Tyr) n.471G>A n.389G>A c.80G>A (p.Cys27Tyr) c.-50G>A (n.-50G>A) | |
7 | g.44145660A>C | CA367399051 | GCK | c.*1088T>G (n.*1088T>G) c.*210T>G (n.*210T>G) n.316T>G c.124T>G (p.Cys42Gly) c.1093T>G (p.Cys365Gly) c.1090T>G (p.Cys364Gly) c.1153T>G (p.Cys385Gly) n.102T>G c.142T>G (p.Cys48Gly) c.1087T>G (p.Cys363Gly) c.1039T>G (p.Cys347Gly) n.470T>G n.388T>G c.79T>G (p.Cys27Gly) c.-51T>G (n.-51T>G) | |
7 | g.44145660A>G | CA367399052 | GCK | c.*1088T>C (n.*1088T>C) c.*210T>C (n.*210T>C) n.316T>C c.124T>C (p.Cys42Arg) c.1093T>C (p.Cys365Arg) c.1090T>C (p.Cys364Arg) c.1153T>C (p.Cys385Arg) n.102T>C c.142T>C (p.Cys48Arg) c.1087T>C (p.Cys363Arg) c.1039T>C (p.Cys347Arg) n.470T>C n.388T>C c.79T>C (p.Cys27Arg) c.-51T>C (n.-51T>C) | |
7 | g.44145660A>T | CA367399055 | GCK | c.*1088T>A (n.*1088T>A) c.*210T>A (n.*210T>A) n.316T>A c.124T>A (p.Cys42Ser) c.1093T>A (p.Cys365Ser) c.1090T>A (p.Cys364Ser) c.1153T>A (p.Cys385Ser) n.102T>A c.142T>A (p.Cys48Ser) c.1087T>A (p.Cys363Ser) c.1039T>A (p.Cys347Ser) n.470T>A n.388T>A c.79T>A (p.Cys27Ser) c.-51T>A (n.-51T>A) | |
7 | g.44145660_44145664del | CA2695203050 | GCK | c.*1084_*1088del (n.*1084_*1088del) c.*206_*210del (n.*206_*210del) n.312_316del c.120_124del (p.Asp41ArgfsTer?) c.1089_1093del (p.Asp364ArgfsTer?) c.1086_1090del (p.Asp363ArgfsTer?) c.1149_1153del (p.Asp384ArgfsTer?) n.98_102del c.138_142del (p.Asp47ArgfsTer?) c.1083_1087del (p.Asp362ArgfsTer?) c.1035_1039del (p.Asp346ArgfsTer?) n.466_470del n.384_388del c.75_79del (p.Asp26ArgfsTer?) c.-55_-51del (n.-55_-51del) | |
7 | g.44145661G>A | CA4239434 | GCK | c.*1087C>T (n.*1087C>T) c.*209C>T (n.*209C>T) n.315C>T c.123C>T (p.Asp41=) c.1092C>T (p.Asp364=) c.1089C>T (p.Asp363=) c.1152C>T (p.Asp384=) n.101C>T c.141C>T (p.Asp47=) c.1086C>T (p.Asp362=) c.1038C>T (p.Asp346=) n.469C>T n.387C>T c.78C>T (p.Asp26=) c.-52C>T (n.-52C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.44145661G>C | CA367399060 | GCK | c.*1087C>G (n.*1087C>G) c.*209C>G (n.*209C>G) n.315C>G c.123C>G (p.Asp41Glu) c.1092C>G (p.Asp364Glu) c.1089C>G (p.Asp363Glu) c.1152C>G (p.Asp384Glu) n.101C>G c.141C>G (p.Asp47Glu) c.1086C>G (p.Asp362Glu) c.1038C>G (p.Asp346Glu) n.469C>G n.387C>G c.78C>G (p.Asp26Glu) c.-52C>G (n.-52C>G) | |
7 | g.44145661G= | CA1703612943 | GCK | c.*1087C= (n.*1087C=) c.*209C= (n.*209C=) n.315C= c.123C= (p.Asp41=) c.1092C= (p.Asp364=) c.1089C= (p.Asp363=) c.1152C= (p.Asp384=) n.101C= c.141C= (p.Asp47=) c.1086C= (p.Asp362=) c.1038C= (p.Asp346=) n.469C= n.387C= c.78C= (p.Asp26=) c.-52C= (n.-52C=) | |
7 | g.44145661G>T | CA367399058 | GCK | c.*1087C>A (n.*1087C>A) c.*209C>A (n.*209C>A) n.315C>A c.123C>A (p.Asp41Glu) c.1092C>A (p.Asp364Glu) c.1089C>A (p.Asp363Glu) c.1152C>A (p.Asp384Glu) n.101C>A c.141C>A (p.Asp47Glu) c.1086C>A (p.Asp362Glu) c.1038C>A (p.Asp346Glu) n.469C>A n.387C>A c.78C>A (p.Asp26Glu) c.-52C>A (n.-52C>A) | gnomAD v4 |
7 | g.44145662T>A | CA367399064 | GCK | c.*1086A>T (n.*1086A>T) c.*208A>T (n.*208A>T) n.314A>T c.122A>T (p.Asp41Val) c.1091A>T (p.Asp364Val) c.1088A>T (p.Asp363Val) c.1151A>T (p.Asp384Val) n.100A>T c.140A>T (p.Asp47Val) c.1085A>T (p.Asp362Val) c.1037A>T (p.Asp346Val) n.468A>T n.386A>T c.77A>T (p.Asp26Val) c.-53A>T (n.-53A>T) | |
7 | g.44145662T>C | CA367399062 | GCK | c.*1086A>G (n.*1086A>G) c.*208A>G (n.*208A>G) n.314A>G c.122A>G (p.Asp41Gly) c.1091A>G (p.Asp364Gly) c.1088A>G (p.Asp363Gly) c.1151A>G (p.Asp384Gly) n.100A>G c.140A>G (p.Asp47Gly) c.1085A>G (p.Asp362Gly) c.1037A>G (p.Asp346Gly) n.468A>G n.386A>G c.77A>G (p.Asp26Gly) c.-53A>G (n.-53A>G) | |
7 | g.44145662T>G | CA367399066 | GCK | c.*1086A>C (n.*1086A>C) c.*208A>C (n.*208A>C) n.314A>C c.122A>C (p.Asp41Ala) c.1091A>C (p.Asp364Ala) c.1088A>C (p.Asp363Ala) c.1151A>C (p.Asp384Ala) n.100A>C c.140A>C (p.Asp47Ala) c.1085A>C (p.Asp362Ala) c.1037A>C (p.Asp346Ala) n.468A>C n.386A>C c.77A>C (p.Asp26Ala) c.-53A>C (n.-53A>C) | gnomAD v4 |
7 | g.44145663C>A | CA367399069 | GCK | c.*1085G>T (n.*1085G>T) c.*207G>T (n.*207G>T) n.313G>T c.121G>T (p.Asp41Tyr) c.1090G>T (p.Asp364Tyr) c.1087G>T (p.Asp363Tyr) c.1150G>T (p.Asp384Tyr) n.99G>T c.139G>T (p.Asp47Tyr) c.1084G>T (p.Asp362Tyr) c.1036G>T (p.Asp346Tyr) n.467G>T n.385G>T c.76G>T (p.Asp26Tyr) c.-54G>T (n.-54G>T) | gnomAD v4 |
7 | g.44145663C= | CA1703612944 | GCK | c.*1085G= (n.*1085G=) c.*207G= (n.*207G=) n.313G= c.121G= (p.Asp41=) c.1090G= (p.Asp364=) c.1087G= (p.Asp363=) c.1150G= (p.Asp384=) n.99G= c.139G= (p.Asp47=) c.1084G= (p.Asp362=) c.1036G= (p.Asp346=) n.467G= n.385G= c.76G= (p.Asp26=) c.-54G= (n.-54G=) | |
7 | g.44145663C>G | CA367399072 | GCK | c.*1085G>C (n.*1085G>C) c.*207G>C (n.*207G>C) n.313G>C c.121G>C (p.Asp41His) c.1090G>C (p.Asp364His) c.1087G>C (p.Asp363His) c.1150G>C (p.Asp384His) n.99G>C c.139G>C (p.Asp47His) c.1084G>C (p.Asp362His) c.1036G>C (p.Asp346His) n.467G>C n.385G>C c.76G>C (p.Asp26His) c.-54G>C (n.-54G>C) | |
7 | g.44145663C>T | CA16618466 | GCK | c.*1085G>A (n.*1085G>A) c.*207G>A (n.*207G>A) n.313G>A c.121G>A (p.Asp41Asn) c.1090G>A (p.Asp364Asn) c.1087G>A (p.Asp363Asn) c.1150G>A (p.Asp384Asn) n.99G>A c.139G>A (p.Asp47Asn) c.1084G>A (p.Asp362Asn) c.1036G>A (p.Asp346Asn) n.467G>A n.385G>A c.76G>A (p.Asp26Asn) c.-54G>A (n.-54G>A) | ClinVar dbSNP |
7 | g.44145664_44145683dup | CA2832528747 | GCK | c.*1066_*1085dup (n.*1066_*1085dup) c.*188_*207dup (n.*188_*207dup) n.294_313dup c.102_121dup (p.Asp41GlyfsTer?) c.1071_1090dup (p.Asp364GlyfsTer?) c.1068_1087dup (p.Asp363GlyfsTer?) c.1131_1150dup (p.Asp384GlyfsTer?) n.80_99dup c.120_139dup (p.Asp47GlyfsTer?) c.1065_1084dup (p.Asp362GlyfsTer?) c.1017_1036dup (p.Asp346GlyfsTer?) n.448_467dup n.366_385dup c.57_76dup (p.Asp26GlyfsTer?) c.-73_-54dup (n.-73_-54dup) | |
7 | g.44145664G>A | CA4239435 | GCK | c.*1084C>T (n.*1084C>T) c.*206C>T (n.*206C>T) n.312C>T c.120C>T (p.Thr40=) c.1089C>T (p.Thr363=) c.1086C>T (p.Thr362=) c.1149C>T (p.Thr383=) n.98C>T c.138C>T (p.Thr46=) c.1083C>T (p.Thr361=) c.1035C>T (p.Thr345=) n.466C>T n.384C>T c.75C>T (p.Thr25=) c.-55C>T (n.-55C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44145664G>C | CA454863048 | GCK | c.*1084C>G (n.*1084C>G) c.*206C>G (n.*206C>G) n.312C>G c.120C>G (p.Thr40=) c.1089C>G (p.Thr363=) c.1086C>G (p.Thr362=) c.1149C>G (p.Thr383=) n.98C>G c.138C>G (p.Thr46=) c.1083C>G (p.Thr361=) c.1035C>G (p.Thr345=) n.466C>G n.384C>G c.75C>G (p.Thr25=) c.-55C>G (n.-55C>G) | gnomAD v4 |
7 | g.44145664G= | CA1703612945 | GCK | c.*1084C= (n.*1084C=) c.*206C= (n.*206C=) n.312C= c.120C= (p.Thr40=) c.1089C= (p.Thr363=) c.1086C= (p.Thr362=) c.1149C= (p.Thr383=) n.98C= c.138C= (p.Thr46=) c.1083C= (p.Thr361=) c.1035C= (p.Thr345=) n.466C= n.384C= c.75C= (p.Thr25=) c.-55C= (n.-55C=) | |
7 | g.44145664G>T | CA454863049 | GCK | c.*1084C>A (n.*1084C>A) c.*206C>A (n.*206C>A) n.312C>A c.120C>A (p.Thr40=) c.1089C>A (p.Thr363=) c.1086C>A (p.Thr362=) c.1149C>A (p.Thr383=) n.98C>A c.138C>A (p.Thr46=) c.1083C>A (p.Thr361=) c.1035C>A (p.Thr345=) n.466C>A n.384C>A c.75C>A (p.Thr25=) c.-55C>A (n.-55C>A) | gnomAD v4 |
7 | g.44145667_44145669del | CA2695203052 | GCK | c.*1082_*1084del (n.*1082_*1084del) c.*204_*206del (n.*204_*206del) n.310_312del c.118_120del (p.Thr40del) c.1087_1089del (p.Thr363del) c.1084_1086del (p.Thr362del) c.1147_1149del (p.Thr383del) n.96_98del c.136_138del (p.Thr46del) c.1081_1083del (p.Thr361del) c.1033_1035del (p.Thr345del) n.464_466del n.382_384del c.73_75del (p.Thr25del) c.-57_-55del (n.-57_-55del) | |
7 | g.44145665G>A | CA367399081 | GCK | c.*1083C>T (n.*1083C>T) c.*205C>T (n.*205C>T) n.311C>T c.119C>T (p.Thr40Ile) c.1088C>T (p.Thr363Ile) c.1085C>T (p.Thr362Ile) c.1148C>T (p.Thr383Ile) n.97C>T c.137C>T (p.Thr46Ile) c.1082C>T (p.Thr361Ile) c.1034C>T (p.Thr345Ile) n.465C>T n.383C>T c.74C>T (p.Thr25Ile) c.-56C>T (n.-56C>T) | ClinVar dbSNP gnomAD v4 |
7 | g.44145665G>C | CA367399077 | GCK | c.*1083C>G (n.*1083C>G) c.*205C>G (n.*205C>G) n.311C>G c.119C>G (p.Thr40Ser) c.1088C>G (p.Thr363Ser) c.1085C>G (p.Thr362Ser) c.1148C>G (p.Thr383Ser) n.97C>G c.137C>G (p.Thr46Ser) c.1082C>G (p.Thr361Ser) c.1034C>G (p.Thr345Ser) n.465C>G n.383C>G c.74C>G (p.Thr25Ser) c.-56C>G (n.-56C>G) | gnomAD v4 |
7 | g.44145665G= | CA1703612946 | GCK | c.*1083C= (n.*1083C=) c.*205C= (n.*205C=) n.311C= c.119C= (p.Thr40=) c.1088C= (p.Thr363=) c.1085C= (p.Thr362=) c.1148C= (p.Thr383=) n.97C= c.137C= (p.Thr46=) c.1082C= (p.Thr361=) c.1034C= (p.Thr345=) n.465C= n.383C= c.74C= (p.Thr25=) c.-56C= (n.-56C=) | |
7 | g.44145665G>T | CA367399079 | GCK | c.*1083C>A (n.*1083C>A) c.*205C>A (n.*205C>A) n.311C>A c.119C>A (p.Thr40Asn) c.1088C>A (p.Thr363Asn) c.1085C>A (p.Thr362Asn) c.1148C>A (p.Thr383Asn) n.97C>A c.137C>A (p.Thr46Asn) c.1082C>A (p.Thr361Asn) c.1034C>A (p.Thr345Asn) n.465C>A n.383C>A c.74C>A (p.Thr25Asn) c.-56C>A (n.-56C>A) | gnomAD v4 |
7 | g.44145666T>A | CA367399083 | GCK | c.*1082A>T (n.*1082A>T) c.*204A>T (n.*204A>T) n.310A>T c.118A>T (p.Thr40Ser) c.1087A>T (p.Thr363Ser) c.1084A>T (p.Thr362Ser) c.1147A>T (p.Thr383Ser) n.96A>T c.136A>T (p.Thr46Ser) c.1081A>T (p.Thr361Ser) c.1033A>T (p.Thr345Ser) n.464A>T n.382A>T c.73A>T (p.Thr25Ser) c.-57A>T (n.-57A>T) | |
7 | g.44145666T>C | CA367399086 | GCK | c.*1082A>G (n.*1082A>G) c.*204A>G (n.*204A>G) n.310A>G c.118A>G (p.Thr40Ala) c.1087A>G (p.Thr363Ala) c.1084A>G (p.Thr362Ala) c.1147A>G (p.Thr383Ala) n.96A>G c.136A>G (p.Thr46Ala) c.1081A>G (p.Thr361Ala) c.1033A>G (p.Thr345Ala) n.464A>G n.382A>G c.73A>G (p.Thr25Ala) c.-57A>G (n.-57A>G) | |
7 | g.44145666T>G | CA367399089 | GCK | c.*1082A>C (n.*1082A>C) c.*204A>C (n.*204A>C) n.310A>C c.118A>C (p.Thr40Pro) c.1087A>C (p.Thr363Pro) c.1084A>C (p.Thr362Pro) c.1147A>C (p.Thr383Pro) n.96A>C c.136A>C (p.Thr46Pro) c.1081A>C (p.Thr361Pro) c.1033A>C (p.Thr345Pro) n.464A>C n.382A>C c.73A>C (p.Thr25Pro) c.-57A>C (n.-57A>C) | |
7 | g.44145667G>A | CA454863051 | GCK | c.*1081C>T (n.*1081C>T) c.*203C>T (n.*203C>T) n.309C>T c.117C>T (p.Thr39=) c.1086C>T (p.Thr362=) c.1083C>T (p.Thr361=) c.1146C>T (p.Thr382=) n.95C>T c.135C>T (p.Thr45=) c.1080C>T (p.Thr360=) c.1032C>T (p.Thr344=) n.463C>T n.381C>T c.72C>T (p.Thr24=) c.-58C>T (n.-58C>T) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145667G>C | CA454863052 | GCK | c.*1081C>G (n.*1081C>G) c.*203C>G (n.*203C>G) n.309C>G c.117C>G (p.Thr39=) c.1086C>G (p.Thr362=) c.1083C>G (p.Thr361=) c.1146C>G (p.Thr382=) n.95C>G c.135C>G (p.Thr45=) c.1080C>G (p.Thr360=) c.1032C>G (p.Thr344=) n.463C>G n.381C>G c.72C>G (p.Thr24=) c.-58C>G (n.-58C>G) | |
7 | g.44145667G= | CA1703612947 | GCK | c.*1081C= (n.*1081C=) c.*203C= (n.*203C=) n.309C= c.117C= (p.Thr39=) c.1086C= (p.Thr362=) c.1083C= (p.Thr361=) c.1146C= (p.Thr382=) n.95C= c.135C= (p.Thr45=) c.1080C= (p.Thr360=) c.1032C= (p.Thr344=) n.463C= n.381C= c.72C= (p.Thr24=) c.-58C= (n.-58C=) | |
7 | g.44145667G>T | CA454863053 | GCK | c.*1081C>A (n.*1081C>A) c.*203C>A (n.*203C>A) n.309C>A c.117C>A (p.Thr39=) c.1086C>A (p.Thr362=) c.1083C>A (p.Thr361=) c.1146C>A (p.Thr382=) n.95C>A c.135C>A (p.Thr45=) c.1080C>A (p.Thr360=) c.1032C>A (p.Thr344=) n.463C>A n.381C>A c.72C>A (p.Thr24=) c.-58C>A (n.-58C>A) | |
7 | g.44145668dup | CA2695203053 | GCK | c.*1081dup (n.*1081dup) c.*203dup (n.*203dup) n.309dup c.117dup (p.Thr40HisfsTer?) c.1086dup (p.Thr363HisfsTer?) c.1083dup (p.Thr362HisfsTer?) c.1146dup (p.Thr383HisfsTer?) n.95dup c.135dup (p.Thr46HisfsTer?) c.1080dup (p.Thr361HisfsTer?) c.1032dup (p.Thr345HisfsTer?) n.463dup n.381dup c.72dup (p.Thr25HisfsTer?) c.-58dup (n.-58dup) | ClinVar |
7 | g.44145668G>A | CA367399091 | GCK | c.*1080C>T (n.*1080C>T) c.*202C>T (n.*202C>T) n.308C>T c.116C>T (p.Thr39Ile) c.1085C>T (p.Thr362Ile) c.1082C>T (p.Thr361Ile) c.1145C>T (p.Thr382Ile) n.94C>T c.134C>T (p.Thr45Ile) c.1079C>T (p.Thr360Ile) c.1031C>T (p.Thr344Ile) n.462C>T n.380C>T c.71C>T (p.Thr24Ile) c.-59C>T (n.-59C>T) | |
7 | g.44145668G>C | CA367399094 | GCK | c.*1080C>G (n.*1080C>G) c.*202C>G (n.*202C>G) n.308C>G c.116C>G (p.Thr39Ser) c.1085C>G (p.Thr362Ser) c.1082C>G (p.Thr361Ser) c.1145C>G (p.Thr382Ser) n.94C>G c.134C>G (p.Thr45Ser) c.1079C>G (p.Thr360Ser) c.1031C>G (p.Thr344Ser) n.462C>G n.380C>G c.71C>G (p.Thr24Ser) c.-59C>G (n.-59C>G) | gnomAD v4 |
7 | g.44145668G>T | CA367399096 | GCK | c.*1080C>A (n.*1080C>A) c.*202C>A (n.*202C>A) n.308C>A c.116C>A (p.Thr39Asn) c.1085C>A (p.Thr362Asn) c.1082C>A (p.Thr361Asn) c.1145C>A (p.Thr382Asn) n.94C>A c.134C>A (p.Thr45Asn) c.1079C>A (p.Thr360Asn) c.1031C>A (p.Thr344Asn) n.462C>A n.380C>A c.71C>A (p.Thr24Asn) c.-59C>A (n.-59C>A) | |
7 | g.44145669T>A | CA367399100 | GCK | c.*1079A>T (n.*1079A>T) c.*201A>T (n.*201A>T) n.307A>T c.115A>T (p.Thr39Ser) c.1084A>T (p.Thr362Ser) c.1081A>T (p.Thr361Ser) c.1144A>T (p.Thr382Ser) n.93A>T c.133A>T (p.Thr45Ser) c.1078A>T (p.Thr360Ser) c.1030A>T (p.Thr344Ser) n.461A>T n.379A>T c.70A>T (p.Thr24Ser) c.-60A>T (n.-60A>T) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.44145669T>C | CA367399102 | GCK | c.*1079A>G (n.*1079A>G) c.*201A>G (n.*201A>G) n.307A>G c.115A>G (p.Thr39Ala) c.1084A>G (p.Thr362Ala) c.1081A>G (p.Thr361Ala) c.1144A>G (p.Thr382Ala) n.93A>G c.133A>G (p.Thr45Ala) c.1078A>G (p.Thr360Ala) c.1030A>G (p.Thr344Ala) n.461A>G n.379A>G c.70A>G (p.Thr24Ala) c.-60A>G (n.-60A>G) | |
7 | g.44145669T>G | CA367399105 | GCK | c.*1079A>C (n.*1079A>C) c.*201A>C (n.*201A>C) n.307A>C c.115A>C (p.Thr39Pro) c.1084A>C (p.Thr362Pro) c.1081A>C (p.Thr361Pro) c.1144A>C (p.Thr382Pro) n.93A>C c.133A>C (p.Thr45Pro) c.1078A>C (p.Thr360Pro) c.1030A>C (p.Thr344Pro) n.461A>C n.379A>C c.70A>C (p.Thr24Pro) c.-60A>C (n.-60A>C) | gnomAD v4 |
7 | g.44145669T= | CA1703612948 | GCK | c.*1079A= (n.*1079A=) c.*201A= (n.*201A=) n.307A= c.115A= (p.Thr39=) c.1084A= (p.Thr362=) c.1081A= (p.Thr361=) c.1144A= (p.Thr382=) n.93A= c.133A= (p.Thr45=) c.1078A= (p.Thr360=) c.1030A= (p.Thr344=) n.461A= n.379A= c.70A= (p.Thr24=) c.-60A= (n.-60A=) | |
7 | g.44145670C>A | CA454863054 | GCK | c.*1078G>T (n.*1078G>T) c.*200G>T (n.*200G>T) n.306G>T c.114G>T (p.Ser38=) c.1083G>T (p.Ser361=) c.1080G>T (p.Ser360=) c.1143G>T (p.Ser381=) n.92G>T c.132G>T (p.Ser44=) c.1077G>T (p.Ser359=) c.1029G>T (p.Ser343=) n.460G>T n.378G>T c.69G>T (p.Ser23=) c.-61G>T (n.-61G>T) | gnomAD v4 |
7 | g.44145670C= | CA1703612949 | GCK | c.*1078G= (n.*1078G=) c.*200G= (n.*200G=) n.306G= c.114G= (p.Ser38=) c.1083G= (p.Ser361=) c.1080G= (p.Ser360=) c.1143G= (p.Ser381=) n.92G= c.132G= (p.Ser44=) c.1077G= (p.Ser359=) c.1029G= (p.Ser343=) n.460G= n.378G= c.69G= (p.Ser23=) c.-61G= (n.-61G=) | |
7 | g.44145670C>G | CA454863055 | GCK | c.*1078G>C (n.*1078G>C) c.*200G>C (n.*200G>C) n.306G>C c.114G>C (p.Ser38=) c.1083G>C (p.Ser361=) c.1080G>C (p.Ser360=) c.1143G>C (p.Ser381=) n.92G>C c.132G>C (p.Ser44=) c.1077G>C (p.Ser359=) c.1029G>C (p.Ser343=) n.460G>C n.378G>C c.69G>C (p.Ser23=) c.-61G>C (n.-61G>C) | |
7 | g.44145670C>T | CA4239436 | GCK | c.*1078G>A (n.*1078G>A) c.*200G>A (n.*200G>A) n.306G>A c.114G>A (p.Ser38=) c.1083G>A (p.Ser361=) c.1080G>A (p.Ser360=) c.1143G>A (p.Ser381=) n.92G>A c.132G>A (p.Ser44=) c.1077G>A (p.Ser359=) c.1029G>A (p.Ser343=) n.460G>A n.378G>A c.69G>A (p.Ser23=) c.-61G>A (n.-61G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44145671G>A | CA367399114 | GCK | c.*1077C>T (n.*1077C>T) c.*199C>T (n.*199C>T) n.305C>T c.113C>T (p.Ser38Leu) c.1082C>T (p.Ser361Leu) c.1079C>T (p.Ser360Leu) c.1142C>T (p.Ser381Leu) n.91C>T c.131C>T (p.Ser44Leu) c.1076C>T (p.Ser359Leu) c.1028C>T (p.Ser343Leu) n.459C>T n.377C>T c.68C>T (p.Ser23Leu) c.-62C>T (n.-62C>T) | ClinVar gnomAD v4 |
7 | g.44145671G>C | CA367399110 | GCK | c.*1077C>G (n.*1077C>G) c.*199C>G (n.*199C>G) n.305C>G c.113C>G (p.Ser38Trp) c.1082C>G (p.Ser361Trp) c.1079C>G (p.Ser360Trp) c.1142C>G (p.Ser381Trp) n.91C>G c.131C>G (p.Ser44Trp) c.1076C>G (p.Ser359Trp) c.1028C>G (p.Ser343Trp) n.459C>G n.377C>G c.68C>G (p.Ser23Trp) c.-62C>G (n.-62C>G) | ClinVar |
7 | g.44145671G>T | CA367399113 | GCK | c.*1077C>A (n.*1077C>A) c.*199C>A (n.*199C>A) n.305C>A c.113C>A (p.Ser38Ter) c.1082C>A (p.Ser361Ter) c.1079C>A (p.Ser360Ter) c.1142C>A (p.Ser381Ter) n.91C>A c.131C>A (p.Ser44Ter) c.1076C>A (p.Ser359Ter) c.1028C>A (p.Ser343Ter) n.459C>A n.377C>A c.68C>A (p.Ser23Ter) c.-62C>A (n.-62C>A) | ClinVar dbSNP gnomAD v4 |
7 | g.44145672A>C | CA367399116 | GCK | c.*1076T>G (n.*1076T>G) c.*198T>G (n.*198T>G) n.304T>G c.112T>G (p.Ser38Ala) c.1081T>G (p.Ser361Ala) c.1078T>G (p.Ser360Ala) c.1141T>G (p.Ser381Ala) n.90T>G c.130T>G (p.Ser44Ala) c.1075T>G (p.Ser359Ala) c.1027T>G (p.Ser343Ala) n.458T>G n.376T>G c.67T>G (p.Ser23Ala) c.-63T>G (n.-63T>G) | |
7 | g.44145672A>G | CA367399118 | GCK | c.*1076T>C (n.*1076T>C) c.*198T>C (n.*198T>C) n.304T>C c.112T>C (p.Ser38Pro) c.1081T>C (p.Ser361Pro) c.1078T>C (p.Ser360Pro) c.1141T>C (p.Ser381Pro) n.90T>C c.130T>C (p.Ser44Pro) c.1075T>C (p.Ser359Pro) c.1027T>C (p.Ser343Pro) n.458T>C n.376T>C c.67T>C (p.Ser23Pro) c.-63T>C (n.-63T>C) | gnomAD v4 |
7 | g.44145672A>T | CA367399121 | GCK | c.*1076T>A (n.*1076T>A) c.*198T>A (n.*198T>A) n.304T>A c.112T>A (p.Ser38Thr) c.1081T>A (p.Ser361Thr) c.1078T>A (p.Ser360Thr) c.1141T>A (p.Ser381Thr) n.90T>A c.130T>A (p.Ser44Thr) c.1075T>A (p.Ser359Thr) c.1027T>A (p.Ser343Thr) n.458T>A n.376T>A c.67T>A (p.Ser23Thr) c.-63T>A (n.-63T>A) | |
7 | g.44145673G>A | CA454863058 | GCK | c.*1075C>T (n.*1075C>T) c.*197C>T (n.*197C>T) n.303C>T c.111C>T (p.Pro37=) c.1080C>T (p.Pro360=) c.1077C>T (p.Pro359=) c.1140C>T (p.Pro380=) n.89C>T c.129C>T (p.Pro43=) c.1074C>T (p.Pro358=) c.1026C>T (p.Pro342=) n.457C>T n.375C>T c.66C>T (p.Pro22=) c.-64C>T (n.-64C>T) | |
7 | g.44145673G>C | CA454863056 | GCK | c.*1075C>G (n.*1075C>G) c.*197C>G (n.*197C>G) n.303C>G c.111C>G (p.Pro37=) c.1080C>G (p.Pro360=) c.1077C>G (p.Pro359=) c.1140C>G (p.Pro380=) n.89C>G c.129C>G (p.Pro43=) c.1074C>G (p.Pro358=) c.1026C>G (p.Pro342=) n.457C>G n.375C>G c.66C>G (p.Pro22=) c.-64C>G (n.-64C>G) | gnomAD v4 |
7 | g.44145673G>T | CA454863057 | GCK | c.*1075C>A (n.*1075C>A) c.*197C>A (n.*197C>A) n.303C>A c.111C>A (p.Pro37=) c.1080C>A (p.Pro360=) c.1077C>A (p.Pro359=) c.1140C>A (p.Pro380=) n.89C>A c.129C>A (p.Pro43=) c.1074C>A (p.Pro358=) c.1026C>A (p.Pro342=) n.457C>A n.375C>A c.66C>A (p.Pro22=) c.-64C>A (n.-64C>A) | gnomAD v4 |
7 | g.44145675del | CA2580077161 | GCK | c.*1075del (n.*1075del) c.*197del (n.*197del) n.303del c.111del (p.Ser38ArgfsTer?) c.1080del (p.Ser361ArgfsTer?) c.1077del (p.Ser360ArgfsTer?) c.1140del (p.Ser381ArgfsTer?) n.89del c.129del (p.Ser44ArgfsTer?) c.1074del (p.Ser359ArgfsTer?) c.1026del (p.Ser343ArgfsTer?) n.457del n.375del c.66del (p.Ser23ArgfsTer?) c.-64del (n.-64del) | ClinVar |
7 | g.44145674G>A | CA367399124 | GCK | c.*1074C>T (n.*1074C>T) c.*196C>T (n.*196C>T) n.302C>T c.110C>T (p.Pro37Leu) c.1079C>T (p.Pro360Leu) c.1076C>T (p.Pro359Leu) c.1139C>T (p.Pro380Leu) n.88C>T c.128C>T (p.Pro43Leu) c.1073C>T (p.Pro358Leu) c.1025C>T (p.Pro342Leu) n.456C>T n.374C>T c.65C>T (p.Pro22Leu) c.-65C>T (n.-65C>T) | |
7 | g.44145674G>C | CA367399125 | GCK | c.*1074C>G (n.*1074C>G) c.*196C>G (n.*196C>G) n.302C>G c.110C>G (p.Pro37Arg) c.1079C>G (p.Pro360Arg) c.1076C>G (p.Pro359Arg) c.1139C>G (p.Pro380Arg) n.88C>G c.128C>G (p.Pro43Arg) c.1073C>G (p.Pro358Arg) c.1025C>G (p.Pro342Arg) n.456C>G n.374C>G c.65C>G (p.Pro22Arg) c.-65C>G (n.-65C>G) | |
7 | g.44145674G>T | CA367399128 | GCK | c.*1074C>A (n.*1074C>A) c.*196C>A (n.*196C>A) n.302C>A c.110C>A (p.Pro37His) c.1079C>A (p.Pro360His) c.1076C>A (p.Pro359His) c.1139C>A (p.Pro380His) n.88C>A c.128C>A (p.Pro43His) c.1073C>A (p.Pro358His) c.1025C>A (p.Pro342His) n.456C>A n.374C>A c.65C>A (p.Pro22His) c.-65C>A (n.-65C>A) | gnomAD v4 |
7 | g.44145675G>A | CA367399131 | GCK | c.*1073C>T (n.*1073C>T) c.*195C>T (n.*195C>T) n.301C>T c.109C>T (p.Pro37Ser) c.1078C>T (p.Pro360Ser) c.1075C>T (p.Pro359Ser) c.1138C>T (p.Pro380Ser) n.87C>T c.127C>T (p.Pro43Ser) c.1072C>T (p.Pro358Ser) c.1024C>T (p.Pro342Ser) n.455C>T n.373C>T c.64C>T (p.Pro22Ser) c.-66C>T (n.-66C>T) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145675G>C | CA367399134 | GCK | c.*1073C>G (n.*1073C>G) c.*195C>G (n.*195C>G) n.301C>G c.109C>G (p.Pro37Ala) c.1078C>G (p.Pro360Ala) c.1075C>G (p.Pro359Ala) c.1138C>G (p.Pro380Ala) n.87C>G c.127C>G (p.Pro43Ala) c.1072C>G (p.Pro358Ala) c.1024C>G (p.Pro342Ala) n.455C>G n.373C>G c.64C>G (p.Pro22Ala) c.-66C>G (n.-66C>G) | |
7 | g.44145675G= | CA1703612950 | GCK | c.*1073C= (n.*1073C=) c.*195C= (n.*195C=) n.301C= c.109C= (p.Pro37=) c.1078C= (p.Pro360=) c.1075C= (p.Pro359=) c.1138C= (p.Pro380=) n.87C= c.127C= (p.Pro43=) c.1072C= (p.Pro358=) c.1024C= (p.Pro342=) n.455C= n.373C= c.64C= (p.Pro22=) c.-66C= (n.-66C=) | |
7 | g.44145675G>T | CA367399135 | GCK | c.*1073C>A (n.*1073C>A) c.*195C>A (n.*195C>A) n.301C>A c.109C>A (p.Pro37Thr) c.1078C>A (p.Pro360Thr) c.1075C>A (p.Pro359Thr) c.1138C>A (p.Pro380Thr) n.87C>A c.127C>A (p.Pro43Thr) c.1072C>A (p.Pro358Thr) c.1024C>A (p.Pro342Thr) n.455C>A n.373C>A c.64C>A (p.Pro22Thr) c.-66C>A (n.-66C>A) | gnomAD v4 |
7 | g.44145676T>A | CA454863060 | GCK | c.*1072A>T (n.*1072A>T) c.*194A>T (n.*194A>T) n.300A>T c.108A>T (p.Arg36=) c.1077A>T (p.Arg359=) c.1074A>T (p.Arg358=) c.1137A>T (p.Arg379=) n.86A>T c.126A>T (p.Arg42=) c.1071A>T (p.Arg357=) c.1023A>T (p.Arg341=) n.454A>T n.372A>T c.63A>T (p.Arg21=) c.-67A>T (n.-67A>T) | |
7 | g.44145676T>C | CA454863063 | GCK | c.*1072A>G (n.*1072A>G) c.*194A>G (n.*194A>G) n.300A>G c.108A>G (p.Arg36=) c.1077A>G (p.Arg359=) c.1074A>G (p.Arg358=) c.1137A>G (p.Arg379=) n.86A>G c.126A>G (p.Arg42=) c.1071A>G (p.Arg357=) c.1023A>G (p.Arg341=) n.454A>G n.372A>G c.63A>G (p.Arg21=) c.-67A>G (n.-67A>G) | gnomAD v4 |
7 | g.44145676T>G | CA454863061 | GCK | c.*1072A>C (n.*1072A>C) c.*194A>C (n.*194A>C) n.300A>C c.108A>C (p.Arg36=) c.1077A>C (p.Arg359=) c.1074A>C (p.Arg358=) c.1137A>C (p.Arg379=) n.86A>C c.126A>C (p.Arg42=) c.1071A>C (p.Arg357=) c.1023A>C (p.Arg341=) n.454A>C n.372A>C c.63A>C (p.Arg21=) c.-67A>C (n.-67A>C) | |
7 | g.44145677C>A | CA367399138 | GCK | c.*1071G>T (n.*1071G>T) c.*193G>T (n.*193G>T) n.299G>T c.107G>T (p.Arg36Leu) c.1076G>T (p.Arg359Leu) c.1073G>T (p.Arg358Leu) c.1136G>T (p.Arg379Leu) n.85G>T c.125G>T (p.Arg42Leu) c.1070G>T (p.Arg357Leu) c.1022G>T (p.Arg341Leu) n.453G>T n.371G>T c.62G>T (p.Arg21Leu) c.-68G>T (n.-68G>T) | gnomAD v4 |
7 | g.44145677C= | CA1703612951 | GCK | c.*1071G= (n.*1071G=) c.*193G= (n.*193G=) n.299G= c.107G= (p.Arg36=) c.1076G= (p.Arg359=) c.1073G= (p.Arg358=) c.1136G= (p.Arg379=) n.85G= c.125G= (p.Arg42=) c.1070G= (p.Arg357=) c.1022G= (p.Arg341=) n.453G= n.371G= c.62G= (p.Arg21=) c.-68G= (n.-68G=) | |
7 | g.44145677C>G | CA367399140 | GCK | c.*1071G>C (n.*1071G>C) c.*193G>C (n.*193G>C) n.299G>C c.107G>C (p.Arg36Pro) c.1076G>C (p.Arg359Pro) c.1073G>C (p.Arg358Pro) c.1136G>C (p.Arg379Pro) n.85G>C c.125G>C (p.Arg42Pro) c.1070G>C (p.Arg357Pro) c.1022G>C (p.Arg341Pro) n.453G>C n.371G>C c.62G>C (p.Arg21Pro) c.-68G>C (n.-68G>C) | COSMIC COSMIC COSMIC |
7 | g.44145677C>T | CA367399142 | GCK | c.*1071G>A (n.*1071G>A) c.*193G>A (n.*193G>A) n.299G>A c.107G>A (p.Arg36Gln) c.1076G>A (p.Arg359Gln) c.1073G>A (p.Arg358Gln) c.1136G>A (p.Arg379Gln) n.85G>A c.125G>A (p.Arg42Gln) c.1070G>A (p.Arg357Gln) c.1022G>A (p.Arg341Gln) n.453G>A n.371G>A c.62G>A (p.Arg21Gln) c.-68G>A (n.-68G>A) | dbSNP |
7 | g.44145678G>A | CA4239437 | GCK | c.*1070C>T (n.*1070C>T) c.*192C>T (n.*192C>T) n.298C>T c.106C>T (p.Arg36Ter) c.1075C>T (p.Arg359Ter) c.1072C>T (p.Arg358Ter) c.1135C>T (p.Arg379Ter) n.84C>T c.124C>T (p.Arg42Ter) c.1069C>T (p.Arg357Ter) c.1021C>T (p.Arg341Ter) n.452C>T n.370C>T c.61C>T (p.Arg21Ter) c.-69C>T (n.-69C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
7 | g.44145678G>C | CA367399145 | GCK | c.*1070C>G (n.*1070C>G) c.*192C>G (n.*192C>G) n.298C>G c.106C>G (p.Arg36Gly) c.1075C>G (p.Arg359Gly) c.1072C>G (p.Arg358Gly) c.1135C>G (p.Arg379Gly) n.84C>G c.124C>G (p.Arg42Gly) c.1069C>G (p.Arg357Gly) c.1021C>G (p.Arg341Gly) n.452C>G n.370C>G c.61C>G (p.Arg21Gly) c.-69C>G (n.-69C>G) | gnomAD v4 |
7 | g.44145678G= | CA1703612952 | GCK | c.*1070C= (n.*1070C=) c.*192C= (n.*192C=) n.298C= c.106C= (p.Arg36=) c.1075C= (p.Arg359=) c.1072C= (p.Arg358=) c.1135C= (p.Arg379=) n.84C= c.124C= (p.Arg42=) c.1069C= (p.Arg357=) c.1021C= (p.Arg341=) n.452C= n.370C= c.61C= (p.Arg21=) c.-69C= (n.-69C=) | |
7 | g.44145678G>T | CA454863064 | GCK | c.*1070C>A (n.*1070C>A) c.*192C>A (n.*192C>A) n.298C>A c.106C>A (p.Arg36=) c.1075C>A (p.Arg359=) c.1072C>A (p.Arg358=) c.1135C>A (p.Arg379=) n.84C>A c.124C>A (p.Arg42=) c.1069C>A (p.Arg357=) c.1021C>A (p.Arg341=) n.452C>A n.370C>A c.61C>A (p.Arg21=) c.-69C>A (n.-69C>A) | gnomAD v4 |
7 | g.44145679C>A | CA454863065 | GCK | c.*1069G>T (n.*1069G>T) c.*191G>T (n.*191G>T) n.297G>T c.105G>T (p.Leu35=) c.1074G>T (p.Leu358=) c.1071G>T (p.Leu357=) c.1134G>T (p.Leu378=) n.83G>T c.123G>T (p.Leu41=) c.1068G>T (p.Leu356=) c.1020G>T (p.Leu340=) n.451G>T n.369G>T c.60G>T (p.Leu20=) c.-70G>T (n.-70G>T) | gnomAD v4 |
7 | g.44145679C= | CA1703612953 | GCK | c.*1069G= (n.*1069G=) c.*191G= (n.*191G=) n.297G= c.105G= (p.Leu35=) c.1074G= (p.Leu358=) c.1071G= (p.Leu357=) c.1134G= (p.Leu378=) n.83G= c.123G= (p.Leu41=) c.1068G= (p.Leu356=) c.1020G= (p.Leu340=) n.451G= n.369G= c.60G= (p.Leu20=) c.-70G= (n.-70G=) | |
7 | g.44145679C>G | CA4239438 | GCK | c.*1069G>C (n.*1069G>C) c.*191G>C (n.*191G>C) n.297G>C c.105G>C (p.Leu35=) c.1074G>C (p.Leu358=) c.1071G>C (p.Leu357=) c.1134G>C (p.Leu378=) n.83G>C c.123G>C (p.Leu41=) c.1068G>C (p.Leu356=) c.1020G>C (p.Leu340=) n.451G>C n.369G>C c.60G>C (p.Leu20=) c.-70G>C (n.-70G>C) | dbSNP ExAC gnomAD v3 gnomAD v4 |
7 | g.44145679C>T | CA454863066 | GCK | c.*1069G>A (n.*1069G>A) c.*191G>A (n.*191G>A) n.297G>A c.105G>A (p.Leu35=) c.1074G>A (p.Leu358=) c.1071G>A (p.Leu357=) c.1134G>A (p.Leu378=) n.83G>A c.123G>A (p.Leu41=) c.1068G>A (p.Leu356=) c.1020G>A (p.Leu340=) n.451G>A n.369G>A c.60G>A (p.Leu20=) c.-70G>A (n.-70G>A) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145680A>C | CA367399152 | GCK | c.*1068T>G (n.*1068T>G) c.*190T>G (n.*190T>G) n.296T>G c.104T>G (p.Leu35Arg) c.1073T>G (p.Leu358Arg) c.1070T>G (p.Leu357Arg) c.1133T>G (p.Leu378Arg) n.82T>G c.122T>G (p.Leu41Arg) c.1067T>G (p.Leu356Arg) c.1019T>G (p.Leu340Arg) n.450T>G n.368T>G c.59T>G (p.Leu20Arg) c.-71T>G (n.-71T>G) | |
7 | g.44145680A>G | CA367399154 | GCK | c.*1068T>C (n.*1068T>C) c.*190T>C (n.*190T>C) n.296T>C c.104T>C (p.Leu35Pro) c.1073T>C (p.Leu358Pro) c.1070T>C (p.Leu357Pro) c.1133T>C (p.Leu378Pro) n.82T>C c.122T>C (p.Leu41Pro) c.1067T>C (p.Leu356Pro) c.1019T>C (p.Leu340Pro) n.450T>C n.368T>C c.59T>C (p.Leu20Pro) c.-71T>C (n.-71T>C) | |
7 | g.44145680A>T | CA367399156 | GCK | c.*1068T>A (n.*1068T>A) c.*190T>A (n.*190T>A) n.296T>A c.104T>A (p.Leu35Gln) c.1073T>A (p.Leu358Gln) c.1070T>A (p.Leu357Gln) c.1133T>A (p.Leu378Gln) n.82T>A c.122T>A (p.Leu41Gln) c.1067T>A (p.Leu356Gln) c.1019T>A (p.Leu340Gln) n.450T>A n.368T>A c.59T>A (p.Leu20Gln) c.-71T>A (n.-71T>A) | |
7 | g.44145681del | CA2695203054 | GCK | c.*1067del (n.*1067del) c.*189del (n.*189del) n.295del c.103del (p.Leu35CysfsTer?) c.1072del (p.Leu358CysfsTer?) c.1069del (p.Leu357CysfsTer?) c.1132del (p.Leu378CysfsTer?) n.81del c.121del (p.Leu41CysfsTer?) c.1066del (p.Leu356CysfsTer?) c.1018del (p.Leu340CysfsTer?) n.449del n.367del c.58del (p.Leu20CysfsTer?) c.-72del (n.-72del) | |
7 | g.44145681G>A | CA454863067 | GCK | c.*1067C>T (n.*1067C>T) c.*189C>T (n.*189C>T) n.295C>T c.103C>T (p.Leu35=) c.1072C>T (p.Leu358=) c.1069C>T (p.Leu357=) c.1132C>T (p.Leu378=) n.81C>T c.121C>T (p.Leu41=) c.1066C>T (p.Leu356=) c.1018C>T (p.Leu340=) n.449C>T n.367C>T c.58C>T (p.Leu20=) c.-72C>T (n.-72C>T) | |
7 | g.44145681G>C | CA367399158 | GCK | c.*1067C>G (n.*1067C>G) c.*189C>G (n.*189C>G) n.295C>G c.103C>G (p.Leu35Val) c.1072C>G (p.Leu358Val) c.1069C>G (p.Leu357Val) c.1132C>G (p.Leu378Val) n.81C>G c.121C>G (p.Leu41Val) c.1066C>G (p.Leu356Val) c.1018C>G (p.Leu340Val) n.449C>G n.367C>G c.58C>G (p.Leu20Val) c.-72C>G (n.-72C>G) | |
7 | g.44145681G>T | CA367399161 | GCK | c.*1067C>A (n.*1067C>A) c.*189C>A (n.*189C>A) n.295C>A c.103C>A (p.Leu35Met) c.1072C>A (p.Leu358Met) c.1069C>A (p.Leu357Met) c.1132C>A (p.Leu378Met) n.81C>A c.121C>A (p.Leu41Met) c.1066C>A (p.Leu356Met) c.1018C>A (p.Leu340Met) n.449C>A n.367C>A c.58C>A (p.Leu20Met) c.-72C>A (n.-72C>A) | gnomAD v4 |
7 | g.44145682C>A | CA157913696 | GCK | c.*1066G>T (n.*1066G>T) c.*188G>T (n.*188G>T) n.294G>T c.102G>T (p.Gly34=) c.1071G>T (p.Gly357=) c.1068G>T (p.Gly356=) c.1131G>T (p.Gly377=) n.80G>T c.120G>T (p.Gly40=) c.1065G>T (p.Gly355=) c.1017G>T (p.Gly339=) n.448G>T n.366G>T c.57G>T (p.Gly19=) c.-73G>T (n.-73G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44145682C= | CA1703612954 | GCK | c.*1066G= (n.*1066G=) c.*188G= (n.*188G=) n.294G= c.102G= (p.Gly34=) c.1071G= (p.Gly357=) c.1068G= (p.Gly356=) c.1131G= (p.Gly377=) n.80G= c.120G= (p.Gly40=) c.1065G= (p.Gly355=) c.1017G= (p.Gly339=) n.448G= n.366G= c.57G= (p.Gly19=) c.-73G= (n.-73G=) | |
7 | g.44145682C>G | CA454863069 | GCK | c.*1066G>C (n.*1066G>C) c.*188G>C (n.*188G>C) n.294G>C c.102G>C (p.Gly34=) c.1071G>C (p.Gly357=) c.1068G>C (p.Gly356=) c.1131G>C (p.Gly377=) n.80G>C c.120G>C (p.Gly40=) c.1065G>C (p.Gly355=) c.1017G>C (p.Gly339=) n.448G>C n.366G>C c.57G>C (p.Gly19=) c.-73G>C (n.-73G>C) | |
7 | g.44145682C>T | CA454863070 | GCK | c.*1066G>A (n.*1066G>A) c.*188G>A (n.*188G>A) n.294G>A c.102G>A (p.Gly34=) c.1071G>A (p.Gly357=) c.1068G>A (p.Gly356=) c.1131G>A (p.Gly377=) n.80G>A c.120G>A (p.Gly40=) c.1065G>A (p.Gly355=) c.1017G>A (p.Gly339=) n.448G>A n.366G>A c.57G>A (p.Gly19=) c.-73G>A (n.-73G>A) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145685del | CA2682581874 | GCK | c.*1066del (n.*1066del) c.*188del (n.*188del) n.294del c.102del (p.Leu35CysfsTer?) c.1071del (p.Leu358CysfsTer?) c.1068del (p.Leu357CysfsTer?) c.1131del (p.Leu378CysfsTer?) n.80del c.120del (p.Leu41CysfsTer?) c.1065del (p.Leu356CysfsTer?) c.1017del (p.Leu340CysfsTer?) n.448del n.366del c.57del (p.Leu20CysfsTer?) c.-73del (n.-73del) | gnomAD v4 |
7 | g.44145683C>A | CA367399166 | GCK | c.*1065G>T (n.*1065G>T) c.*187G>T (n.*187G>T) n.293G>T c.101G>T (p.Gly34Val) c.1070G>T (p.Gly357Val) c.1067G>T (p.Gly356Val) c.1130G>T (p.Gly377Val) n.79G>T c.119G>T (p.Gly40Val) c.1064G>T (p.Gly355Val) c.1016G>T (p.Gly339Val) n.447G>T n.365G>T c.56G>T (p.Gly19Val) c.-74G>T (n.-74G>T) | |
7 | g.44145683C>G | CA367399168 | GCK | c.*1065G>C (n.*1065G>C) c.*187G>C (n.*187G>C) n.293G>C c.101G>C (p.Gly34Ala) c.1070G>C (p.Gly357Ala) c.1067G>C (p.Gly356Ala) c.1130G>C (p.Gly377Ala) n.79G>C c.119G>C (p.Gly40Ala) c.1064G>C (p.Gly355Ala) c.1016G>C (p.Gly339Ala) n.447G>C n.365G>C c.56G>C (p.Gly19Ala) c.-74G>C (n.-74G>C) | |
7 | g.44145683C>T | CA367399171 | GCK | c.*1065G>A (n.*1065G>A) c.*187G>A (n.*187G>A) n.293G>A c.101G>A (p.Gly34Glu) c.1070G>A (p.Gly357Glu) c.1067G>A (p.Gly356Glu) c.1130G>A (p.Gly377Glu) n.79G>A c.119G>A (p.Gly40Glu) c.1064G>A (p.Gly355Glu) c.1016G>A (p.Gly339Glu) n.447G>A n.365G>A c.56G>A (p.Gly19Glu) c.-74G>A (n.-74G>A) | |
7 | g.44145684C>A | CA367399173 | GCK | c.*1064G>T (n.*1064G>T) c.*186G>T (n.*186G>T) n.292G>T c.100G>T (p.Gly34Trp) c.1069G>T (p.Gly357Trp) c.1066G>T (p.Gly356Trp) c.1129G>T (p.Gly377Trp) n.78G>T c.118G>T (p.Gly40Trp) c.1063G>T (p.Gly355Trp) c.1015G>T (p.Gly339Trp) n.446G>T n.364G>T c.55G>T (p.Gly19Trp) c.-75G>T (n.-75G>T) | |
7 | g.44145684C>G | CA367399175 | GCK | c.*1064G>C (n.*1064G>C) c.*186G>C (n.*186G>C) n.292G>C c.100G>C (p.Gly34Arg) c.1069G>C (p.Gly357Arg) c.1066G>C (p.Gly356Arg) c.1129G>C (p.Gly377Arg) n.78G>C c.118G>C (p.Gly40Arg) c.1063G>C (p.Gly355Arg) c.1015G>C (p.Gly339Arg) n.446G>C n.364G>C c.55G>C (p.Gly19Arg) c.-75G>C (n.-75G>C) | |
7 | g.44145684C>T | CA367399177 | GCK | c.*1064G>A (n.*1064G>A) c.*186G>A (n.*186G>A) n.292G>A c.100G>A (p.Gly34Arg) c.1069G>A (p.Gly357Arg) c.1066G>A (p.Gly356Arg) c.1129G>A (p.Gly377Arg) n.78G>A c.118G>A (p.Gly40Arg) c.1063G>A (p.Gly355Arg) c.1015G>A (p.Gly339Arg) n.446G>A n.364G>A c.55G>A (p.Gly19Arg) c.-75G>A (n.-75G>A) | gnomAD v4 |
7 | g.44145685C>A | CA454863072 | GCK | c.*1063G>T (n.*1063G>T) c.*185G>T (n.*185G>T) n.291G>T c.99G>T (p.Leu33=) c.1068G>T (p.Leu356=) c.1065G>T (p.Leu355=) c.1128G>T (p.Leu376=) n.77G>T c.117G>T (p.Leu39=) c.1062G>T (p.Leu354=) c.1014G>T (p.Leu338=) n.445G>T n.363G>T c.54G>T (p.Leu18=) c.-76G>T (n.-76G>T) | |
7 | g.44145685C>G | CA454863075 | GCK | c.*1063G>C (n.*1063G>C) c.*185G>C (n.*185G>C) n.291G>C c.99G>C (p.Leu33=) c.1068G>C (p.Leu356=) c.1065G>C (p.Leu355=) c.1128G>C (p.Leu376=) n.77G>C c.117G>C (p.Leu39=) c.1062G>C (p.Leu354=) c.1014G>C (p.Leu338=) n.445G>C n.363G>C c.54G>C (p.Leu18=) c.-76G>C (n.-76G>C) | gnomAD v4 |
7 | g.44145685C>T | CA454863076 | GCK | c.*1063G>A (n.*1063G>A) c.*185G>A (n.*185G>A) n.291G>A c.99G>A (p.Leu33=) c.1068G>A (p.Leu356=) c.1065G>A (p.Leu355=) c.1128G>A (p.Leu376=) n.77G>A c.117G>A (p.Leu39=) c.1062G>A (p.Leu354=) c.1014G>A (p.Leu338=) n.445G>A n.363G>A c.54G>A (p.Leu18=) c.-76G>A (n.-76G>A) | |
7 | g.44145686A= | CA1703612955 | GCK | c.*1062T= (n.*1062T=) c.*184T= (n.*184T=) n.290T= c.98T= (p.Leu33=) c.1067T= (p.Leu356=) c.1064T= (p.Leu355=) c.1127T= (p.Leu376=) n.76T= c.116T= (p.Leu39=) c.1061T= (p.Leu354=) c.1013T= (p.Leu338=) n.444T= n.362T= c.53T= (p.Leu18=) c.-77T= (n.-77T=) | |
7 | g.44145686A>C | CA367399184 | GCK | c.*1062T>G (n.*1062T>G) c.*184T>G (n.*184T>G) n.290T>G c.98T>G (p.Leu33Arg) c.1067T>G (p.Leu356Arg) c.1064T>G (p.Leu355Arg) c.1127T>G (p.Leu376Arg) n.76T>G c.116T>G (p.Leu39Arg) c.1061T>G (p.Leu354Arg) c.1013T>G (p.Leu338Arg) n.444T>G n.362T>G c.53T>G (p.Leu18Arg) c.-77T>G (n.-77T>G) | |
7 | g.44145686A>G | CA367399180 | GCK | c.*1062T>C (n.*1062T>C) c.*184T>C (n.*184T>C) n.290T>C c.98T>C (p.Leu33Pro) c.1067T>C (p.Leu356Pro) c.1064T>C (p.Leu355Pro) c.1127T>C (p.Leu376Pro) n.76T>C c.116T>C (p.Leu39Pro) c.1061T>C (p.Leu354Pro) c.1013T>C (p.Leu338Pro) n.444T>C n.362T>C c.53T>C (p.Leu18Pro) c.-77T>C (n.-77T>C) | ClinVar dbSNP gnomAD v4 |
7 | g.44145686A>T | CA367399182 | GCK | c.*1062T>A (n.*1062T>A) c.*184T>A (n.*184T>A) n.290T>A c.98T>A (p.Leu33Gln) c.1067T>A (p.Leu356Gln) c.1064T>A (p.Leu355Gln) c.1127T>A (p.Leu376Gln) n.76T>A c.116T>A (p.Leu39Gln) c.1061T>A (p.Leu354Gln) c.1013T>A (p.Leu338Gln) n.444T>A n.362T>A c.53T>A (p.Leu18Gln) c.-77T>A (n.-77T>A) | |
7 | g.44145687G>A | CA4239439 | GCK | c.*1061C>T (n.*1061C>T) c.*183C>T (n.*183C>T) n.289C>T c.97C>T (p.Leu33=) c.1066C>T (p.Leu356=) c.1063C>T (p.Leu355=) c.1126C>T (p.Leu376=) n.75C>T c.115C>T (p.Leu39=) c.1060C>T (p.Leu354=) c.1012C>T (p.Leu338=) n.443C>T n.361C>T c.52C>T (p.Leu18=) c.-78C>T (n.-78C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44145687G>C | CA367399187 | GCK | c.*1061C>G (n.*1061C>G) c.*183C>G (n.*183C>G) n.289C>G c.97C>G (p.Leu33Val) c.1066C>G (p.Leu356Val) c.1063C>G (p.Leu355Val) c.1126C>G (p.Leu376Val) n.75C>G c.115C>G (p.Leu39Val) c.1060C>G (p.Leu354Val) c.1012C>G (p.Leu338Val) n.443C>G n.361C>G c.52C>G (p.Leu18Val) c.-78C>G (n.-78C>G) | |
7 | g.44145687G= | CA1703612956 | GCK | c.*1061C= (n.*1061C=) c.*183C= (n.*183C=) n.289C= c.97C= (p.Leu33=) c.1066C= (p.Leu356=) c.1063C= (p.Leu355=) c.1126C= (p.Leu376=) n.75C= c.115C= (p.Leu39=) c.1060C= (p.Leu354=) c.1012C= (p.Leu338=) n.443C= n.361C= c.52C= (p.Leu18=) c.-78C= (n.-78C=) | |
7 | g.44145687G>T | CA367399190 | GCK | c.*1061C>A (n.*1061C>A) c.*183C>A (n.*183C>A) n.289C>A c.97C>A (p.Leu33Met) c.1066C>A (p.Leu356Met) c.1063C>A (p.Leu355Met) c.1126C>A (p.Leu376Met) n.75C>A c.115C>A (p.Leu39Met) c.1060C>A (p.Leu354Met) c.1012C>A (p.Leu338Met) n.443C>A n.361C>A c.52C>A (p.Leu18Met) c.-78C>A (n.-78C>A) | gnomAD v4 |
7 | g.44145688C>A | CA454863080 | GCK | c.*1060G>T (n.*1060G>T) c.*182G>T (n.*182G>T) n.288G>T c.96G>T (p.Thr32=) c.1065G>T (p.Thr355=) c.1062G>T (p.Thr354=) c.1125G>T (p.Thr375=) n.74G>T c.114G>T (p.Thr38=) c.1059G>T (p.Thr353=) c.1011G>T (p.Thr337=) n.442G>T n.360G>T c.51G>T (p.Thr17=) c.-79G>T (n.-79G>T) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.44145688C= | CA1703612957 | GCK | c.*1060G= (n.*1060G=) c.*182G= (n.*182G=) n.288G= c.96G= (p.Thr32=) c.1065G= (p.Thr355=) c.1062G= (p.Thr354=) c.1125G= (p.Thr375=) n.74G= c.114G= (p.Thr38=) c.1059G= (p.Thr353=) c.1011G= (p.Thr337=) n.442G= n.360G= c.51G= (p.Thr17=) c.-79G= (n.-79G=) | |
7 | g.44145688C>G | CA454863081 | GCK | c.*1060G>C (n.*1060G>C) c.*182G>C (n.*182G>C) n.288G>C c.96G>C (p.Thr32=) c.1065G>C (p.Thr355=) c.1062G>C (p.Thr354=) c.1125G>C (p.Thr375=) n.74G>C c.114G>C (p.Thr38=) c.1059G>C (p.Thr353=) c.1011G>C (p.Thr337=) n.442G>C n.360G>C c.51G>C (p.Thr17=) c.-79G>C (n.-79G>C) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145688C>T | CA454863082 | GCK | c.*1060G>A (n.*1060G>A) c.*182G>A (n.*182G>A) n.288G>A c.96G>A (p.Thr32=) c.1065G>A (p.Thr355=) c.1062G>A (p.Thr354=) c.1125G>A (p.Thr375=) n.74G>A c.114G>A (p.Thr38=) c.1059G>A (p.Thr353=) c.1011G>A (p.Thr337=) n.442G>A n.360G>A c.51G>A (p.Thr17=) c.-79G>A (n.-79G>A) | gnomAD v4 |
7 | g.44145689G>A | CA367399193 | GCK | c.*1059C>T (n.*1059C>T) c.*181C>T (n.*181C>T) n.287C>T c.95C>T (p.Thr32Met) c.1064C>T (p.Thr355Met) c.1061C>T (p.Thr354Met) c.1124C>T (p.Thr375Met) n.73C>T c.113C>T (p.Thr38Met) c.1058C>T (p.Thr353Met) c.1010C>T (p.Thr337Met) n.441C>T n.359C>T c.50C>T (p.Thr17Met) c.-80C>T (n.-80C>T) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145689G>C | CA367399194 | GCK | c.*1059C>G (n.*1059C>G) c.*181C>G (n.*181C>G) n.287C>G c.95C>G (p.Thr32Arg) c.1064C>G (p.Thr355Arg) c.1061C>G (p.Thr354Arg) c.1124C>G (p.Thr375Arg) n.73C>G c.113C>G (p.Thr38Arg) c.1058C>G (p.Thr353Arg) c.1010C>G (p.Thr337Arg) n.441C>G n.359C>G c.50C>G (p.Thr17Arg) c.-80C>G (n.-80C>G) | |
7 | g.44145689G= | CA1703612958 | GCK | c.*1059C= (n.*1059C=) c.*181C= (n.*181C=) n.287C= c.95C= (p.Thr32=) c.1064C= (p.Thr355=) c.1061C= (p.Thr354=) c.1124C= (p.Thr375=) n.73C= c.113C= (p.Thr38=) c.1058C= (p.Thr353=) c.1010C= (p.Thr337=) n.441C= n.359C= c.50C= (p.Thr17=) c.-80C= (n.-80C=) | |
7 | g.44145689G>T | CA367399195 | GCK | c.*1059C>A (n.*1059C>A) c.*181C>A (n.*181C>A) n.287C>A c.95C>A (p.Thr32Lys) c.1064C>A (p.Thr355Lys) c.1061C>A (p.Thr354Lys) c.1124C>A (p.Thr375Lys) n.73C>A c.113C>A (p.Thr38Lys) c.1058C>A (p.Thr353Lys) c.1010C>A (p.Thr337Lys) n.441C>A n.359C>A c.50C>A (p.Thr17Lys) c.-80C>A (n.-80C>A) | gnomAD v4 |
7 | g.44145690T>A | CA367399200 | GCK | c.*1058A>T (n.*1058A>T) c.*180A>T (n.*180A>T) n.286A>T c.94A>T (p.Thr32Ser) c.1063A>T (p.Thr355Ser) c.1060A>T (p.Thr354Ser) c.1123A>T (p.Thr375Ser) n.72A>T c.112A>T (p.Thr38Ser) c.1057A>T (p.Thr353Ser) c.1009A>T (p.Thr337Ser) n.440A>T n.358A>T c.49A>T (p.Thr17Ser) c.-81A>T (n.-81A>T) | |
7 | g.44145690T>C | CA367399201 | GCK | c.*1058A>G (n.*1058A>G) c.*180A>G (n.*180A>G) n.286A>G c.94A>G (p.Thr32Ala) c.1063A>G (p.Thr355Ala) c.1060A>G (p.Thr354Ala) c.1123A>G (p.Thr375Ala) n.72A>G c.112A>G (p.Thr38Ala) c.1057A>G (p.Thr353Ala) c.1009A>G (p.Thr337Ala) n.440A>G n.358A>G c.49A>G (p.Thr17Ala) c.-81A>G (n.-81A>G) | gnomAD v4 |
7 | g.44145690T>G | CA367399204 | GCK | c.*1058A>C (n.*1058A>C) c.*180A>C (n.*180A>C) n.286A>C c.94A>C (p.Thr32Pro) c.1063A>C (p.Thr355Pro) c.1060A>C (p.Thr354Pro) c.1123A>C (p.Thr375Pro) n.72A>C c.112A>C (p.Thr38Pro) c.1057A>C (p.Thr353Pro) c.1009A>C (p.Thr337Pro) n.440A>C n.358A>C c.49A>C (p.Thr17Pro) c.-81A>C (n.-81A>C) | |
7 | g.44145691G>A | CA454863084 | GCK | c.*1057C>T (n.*1057C>T) c.*179C>T (n.*179C>T) n.285C>T c.93C>T (p.Ser31=) c.1062C>T (p.Ser354=) c.1059C>T (p.Ser353=) c.1122C>T (p.Ser374=) n.71C>T c.111C>T (p.Ser37=) c.1056C>T (p.Ser352=) c.1008C>T (p.Ser336=) n.439C>T n.357C>T c.48C>T (p.Ser16=) c.-82C>T (n.-82C>T) | gnomAD v4 |
7 | g.44145691G>C | CA367399206 | GCK | c.*1057C>G (n.*1057C>G) c.*179C>G (n.*179C>G) n.285C>G c.93C>G (p.Ser31Arg) c.1062C>G (p.Ser354Arg) c.1059C>G (p.Ser353Arg) c.1122C>G (p.Ser374Arg) n.71C>G c.111C>G (p.Ser37Arg) c.1056C>G (p.Ser352Arg) c.1008C>G (p.Ser336Arg) n.439C>G n.357C>G c.48C>G (p.Ser16Arg) c.-82C>G (n.-82C>G) | |
7 | g.44145691G>T | CA367399209 | GCK | c.*1057C>A (n.*1057C>A) c.*179C>A (n.*179C>A) n.285C>A c.93C>A (p.Ser31Arg) c.1062C>A (p.Ser354Arg) c.1059C>A (p.Ser353Arg) c.1122C>A (p.Ser374Arg) n.71C>A c.111C>A (p.Ser37Arg) c.1056C>A (p.Ser352Arg) c.1008C>A (p.Ser336Arg) n.439C>A n.357C>A c.48C>A (p.Ser16Arg) c.-82C>A (n.-82C>A) | gnomAD v4 |
7 | g.44145692C>A | CA367399217 | GCK | c.*1056G>T (n.*1056G>T) c.*178G>T (n.*178G>T) n.284G>T c.92G>T (p.Ser31Ile) c.1061G>T (p.Ser354Ile) c.1058G>T (p.Ser353Ile) c.1121G>T (p.Ser374Ile) n.70G>T c.110G>T (p.Ser37Ile) c.1055G>T (p.Ser352Ile) c.1007G>T (p.Ser336Ile) n.438G>T n.356G>T c.47G>T (p.Ser16Ile) c.-83G>T (n.-83G>T) | gnomAD v4 |
7 | g.44145692C>G | CA367399214 | GCK | c.*1056G>C (n.*1056G>C) c.*178G>C (n.*178G>C) n.284G>C c.92G>C (p.Ser31Thr) c.1061G>C (p.Ser354Thr) c.1058G>C (p.Ser353Thr) c.1121G>C (p.Ser374Thr) n.70G>C c.110G>C (p.Ser37Thr) c.1055G>C (p.Ser352Thr) c.1007G>C (p.Ser336Thr) n.438G>C n.356G>C c.47G>C (p.Ser16Thr) c.-83G>C (n.-83G>C) | |
7 | g.44145692C>T | CA367399213 | GCK | c.*1056G>A (n.*1056G>A) c.*178G>A (n.*178G>A) n.284G>A c.92G>A (p.Ser31Asn) c.1061G>A (p.Ser354Asn) c.1058G>A (p.Ser353Asn) c.1121G>A (p.Ser374Asn) n.70G>A c.110G>A (p.Ser37Asn) c.1055G>A (p.Ser352Asn) c.1007G>A (p.Ser336Asn) n.438G>A n.356G>A c.47G>A (p.Ser16Asn) c.-83G>A (n.-83G>A) | gnomAD v4 |
7 | g.44145693T>A | CA367399219 | GCK | c.*1055A>T (n.*1055A>T) c.*177A>T (n.*177A>T) n.283A>T c.91A>T (p.Ser31Cys) c.1060A>T (p.Ser354Cys) c.1057A>T (p.Ser353Cys) c.1120A>T (p.Ser374Cys) n.69A>T c.109A>T (p.Ser37Cys) c.1054A>T (p.Ser352Cys) c.1006A>T (p.Ser336Cys) n.437A>T n.355A>T c.46A>T (p.Ser16Cys) c.-84A>T (n.-84A>T) | |
7 | g.44145693T>C | CA367399222 | GCK | c.*1055A>G (n.*1055A>G) c.*177A>G (n.*177A>G) n.283A>G c.91A>G (p.Ser31Gly) c.1060A>G (p.Ser354Gly) c.1057A>G (p.Ser353Gly) c.1120A>G (p.Ser374Gly) n.69A>G c.109A>G (p.Ser37Gly) c.1054A>G (p.Ser352Gly) c.1006A>G (p.Ser336Gly) n.437A>G n.355A>G c.46A>G (p.Ser16Gly) c.-84A>G (n.-84A>G) | |
7 | g.44145693T>G | CA367399220 | GCK | c.*1055A>C (n.*1055A>C) c.*177A>C (n.*177A>C) n.283A>C c.91A>C (p.Ser31Arg) c.1060A>C (p.Ser354Arg) c.1057A>C (p.Ser353Arg) c.1120A>C (p.Ser374Arg) n.69A>C c.109A>C (p.Ser37Arg) c.1054A>C (p.Ser352Arg) c.1006A>C (p.Ser336Arg) n.437A>C n.355A>C c.46A>C (p.Ser16Arg) c.-84A>C (n.-84A>C) | |
7 | g.44145694C>A | CA454863085 | GCK | c.*1054G>T (n.*1054G>T) c.*176G>T (n.*176G>T) n.282G>T c.90G>T (p.Leu30=) c.1059G>T (p.Leu353=) c.1056G>T (p.Leu352=) c.1119G>T (p.Leu373=) n.68G>T c.108G>T (p.Leu36=) c.1053G>T (p.Leu351=) c.1005G>T (p.Leu335=) n.436G>T n.354G>T c.45G>T (p.Leu15=) c.-85G>T (n.-85G>T) | gnomAD v4 |
7 | g.44145694C= | CA1703612959 | GCK | c.*1054G= (n.*1054G=) c.*176G= (n.*176G=) n.282G= c.90G= (p.Leu30=) c.1059G= (p.Leu353=) c.1056G= (p.Leu352=) c.1119G= (p.Leu373=) n.68G= c.108G= (p.Leu36=) c.1053G= (p.Leu351=) c.1005G= (p.Leu335=) n.436G= n.354G= c.45G= (p.Leu15=) c.-85G= (n.-85G=) | |
7 | g.44145694C>G | CA454863087 | GCK | c.*1054G>C (n.*1054G>C) c.*176G>C (n.*176G>C) n.282G>C c.90G>C (p.Leu30=) c.1059G>C (p.Leu353=) c.1056G>C (p.Leu352=) c.1119G>C (p.Leu373=) n.68G>C c.108G>C (p.Leu36=) c.1053G>C (p.Leu351=) c.1005G>C (p.Leu335=) n.436G>C n.354G>C c.45G>C (p.Leu15=) c.-85G>C (n.-85G>C) | gnomAD v4 |
7 | g.44145694C>T | CA454863086 | GCK | c.*1054G>A (n.*1054G>A) c.*176G>A (n.*176G>A) n.282G>A c.90G>A (p.Leu30=) c.1059G>A (p.Leu353=) c.1056G>A (p.Leu352=) c.1119G>A (p.Leu373=) n.68G>A c.108G>A (p.Leu36=) c.1053G>A (p.Leu351=) c.1005G>A (p.Leu335=) n.436G>A n.354G>A c.45G>A (p.Leu15=) c.-85G>A (n.-85G>A) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145695A>C | CA367399229 | GCK | c.*1053T>G (n.*1053T>G) c.*175T>G (n.*175T>G) n.281T>G c.89T>G (p.Leu30Arg) c.1058T>G (p.Leu353Arg) c.1055T>G (p.Leu352Arg) c.1118T>G (p.Leu373Arg) n.67T>G c.107T>G (p.Leu36Arg) c.1052T>G (p.Leu351Arg) c.1004T>G (p.Leu335Arg) n.435T>G n.353T>G c.44T>G (p.Leu15Arg) c.-86T>G (n.-86T>G) | |
7 | g.44145695A>G | CA367399230 | GCK | c.*1053T>C (n.*1053T>C) c.*175T>C (n.*175T>C) n.281T>C c.89T>C (p.Leu30Pro) c.1058T>C (p.Leu353Pro) c.1055T>C (p.Leu352Pro) c.1118T>C (p.Leu373Pro) n.67T>C c.107T>C (p.Leu36Pro) c.1052T>C (p.Leu351Pro) c.1004T>C (p.Leu335Pro) n.435T>C n.353T>C c.44T>C (p.Leu15Pro) c.-86T>C (n.-86T>C) | gnomAD v4 |
7 | g.44145695A>T | CA367399232 | GCK | c.*1053T>A (n.*1053T>A) c.*175T>A (n.*175T>A) n.281T>A c.89T>A (p.Leu30Gln) c.1058T>A (p.Leu353Gln) c.1055T>A (p.Leu352Gln) c.1118T>A (p.Leu373Gln) n.67T>A c.107T>A (p.Leu36Gln) c.1052T>A (p.Leu351Gln) c.1004T>A (p.Leu335Gln) n.435T>A n.353T>A c.44T>A (p.Leu15Gln) c.-86T>A (n.-86T>A) | |
7 | g.44145695_44145696delinsAG | CA1703612960 | GCK | c.*1052_*1053delinsCT (n.*1052_*1053delinsCT) c.*174_*175delinsCT (n.*174_*175delinsCT) n.280_281delinsCT c.88_89delinsCT (p.Leu30=) c.1057_1058delinsCT (p.Leu353=) c.1054_1055delinsCT (p.Leu352=) c.1117_1118delinsCT (p.Leu373=) n.66_67delinsCT c.106_107delinsCT (p.Leu36=) c.1051_1052delinsCT (p.Leu351=) c.1003_1004delinsCT (p.Leu335=) n.434_435delinsCT n.352_353delinsCT c.43_44delinsCT (p.Leu15=) c.-87_-86delinsCT (n.-87_-86delinsCT) | |
7 | g.44145696G>A | CA454863092 | GCK | c.*1052C>T (n.*1052C>T) c.*174C>T (n.*174C>T) n.280C>T c.88C>T (p.Leu30=) c.1057C>T (p.Leu353=) c.1054C>T (p.Leu352=) c.1117C>T (p.Leu373=) n.66C>T c.106C>T (p.Leu36=) c.1051C>T (p.Leu351=) c.1003C>T (p.Leu335=) n.434C>T n.352C>T c.43C>T (p.Leu15=) c.-87C>T (n.-87C>T) | |
7 | g.44145696G>C | CA367399235 | GCK | c.*1052C>G (n.*1052C>G) c.*174C>G (n.*174C>G) n.280C>G c.88C>G (p.Leu30Val) c.1057C>G (p.Leu353Val) c.1054C>G (p.Leu352Val) c.1117C>G (p.Leu373Val) n.66C>G c.106C>G (p.Leu36Val) c.1051C>G (p.Leu351Val) c.1003C>G (p.Leu335Val) n.434C>G n.352C>G c.43C>G (p.Leu15Val) c.-87C>G (n.-87C>G) | |
7 | g.44145696G>T | CA367399237 | GCK | c.*1052C>A (n.*1052C>A) c.*174C>A (n.*174C>A) n.280C>A c.88C>A (p.Leu30Met) c.1057C>A (p.Leu353Met) c.1054C>A (p.Leu352Met) c.1117C>A (p.Leu373Met) n.66C>A c.106C>A (p.Leu36Met) c.1051C>A (p.Leu351Met) c.1003C>A (p.Leu335Met) n.434C>A n.352C>A c.43C>A (p.Leu15Met) c.-87C>A (n.-87C>A) | gnomAD v4 |
7 | g.44145697del | CA891843077 | GCK | c.*1052del (n.*1052del) c.*174del (n.*174del) n.280del c.88del (p.Leu30Ter) c.1057del (p.Leu353Ter) c.1054del (p.Leu352Ter) c.1117del (p.Leu373Ter) n.66del c.106del (p.Leu36Ter) c.1051del (p.Leu351Ter) c.1003del (p.Leu335Ter) n.434del n.352del c.43del (p.Leu15Ter) c.-87del (n.-87del) | ClinVar dbSNP |
7 | g.44145697G>A | CA454863095 | GCK | c.*1051C>T (n.*1051C>T) c.*173C>T (n.*173C>T) n.279C>T c.87C>T (p.Ile29=) c.1056C>T (p.Ile352=) c.1053C>T (p.Ile351=) c.1116C>T (p.Ile372=) n.65C>T c.105C>T (p.Ile35=) c.1050C>T (p.Ile350=) c.1002C>T (p.Ile334=) n.433C>T n.351C>T c.42C>T (p.Ile14=) c.-88C>T (n.-88C>T) | gnomAD v4 |
7 | g.44145697G>C | CA367399240 | GCK | c.*1051C>G (n.*1051C>G) c.*173C>G (n.*173C>G) n.279C>G c.87C>G (p.Ile29Met) c.1056C>G (p.Ile352Met) c.1053C>G (p.Ile351Met) c.1116C>G (p.Ile372Met) n.65C>G c.105C>G (p.Ile35Met) c.1050C>G (p.Ile350Met) c.1002C>G (p.Ile334Met) n.433C>G n.351C>G c.42C>G (p.Ile14Met) c.-88C>G (n.-88C>G) | |
7 | g.44145697G>T | CA454863096 | GCK | c.*1051C>A (n.*1051C>A) c.*173C>A (n.*173C>A) n.279C>A c.87C>A (p.Ile29=) c.1056C>A (p.Ile352=) c.1053C>A (p.Ile351=) c.1116C>A (p.Ile372=) n.65C>A c.105C>A (p.Ile35=) c.1050C>A (p.Ile350=) c.1002C>A (p.Ile334=) n.433C>A n.351C>A c.42C>A (p.Ile14=) c.-88C>A (n.-88C>A) | gnomAD v4 |
7 | g.44145698A>C | CA367399243 | GCK | c.*1050T>G (n.*1050T>G) c.*172T>G (n.*172T>G) n.278T>G c.86T>G (p.Ile29Ser) c.1055T>G (p.Ile352Ser) c.1052T>G (p.Ile351Ser) c.1115T>G (p.Ile372Ser) n.64T>G c.104T>G (p.Ile35Ser) c.1049T>G (p.Ile350Ser) c.1001T>G (p.Ile334Ser) n.432T>G n.350T>G c.41T>G (p.Ile14Ser) c.-89T>G (n.-89T>G) | |
7 | g.44145698A>G | CA367399245 | GCK | c.*1050T>C (n.*1050T>C) c.*172T>C (n.*172T>C) n.278T>C c.86T>C (p.Ile29Thr) c.1055T>C (p.Ile352Thr) c.1052T>C (p.Ile351Thr) c.1115T>C (p.Ile372Thr) n.64T>C c.104T>C (p.Ile35Thr) c.1049T>C (p.Ile350Thr) c.1001T>C (p.Ile334Thr) n.432T>C n.350T>C c.41T>C (p.Ile14Thr) c.-89T>C (n.-89T>C) | |
7 | g.44145698A>T | CA367399247 | GCK | c.*1050T>A (n.*1050T>A) c.*172T>A (n.*172T>A) n.278T>A c.86T>A (p.Ile29Asn) c.1055T>A (p.Ile352Asn) c.1052T>A (p.Ile351Asn) c.1115T>A (p.Ile372Asn) n.64T>A c.104T>A (p.Ile35Asn) c.1049T>A (p.Ile350Asn) c.1001T>A (p.Ile334Asn) n.432T>A n.350T>A c.41T>A (p.Ile14Asn) c.-89T>A (n.-89T>A) | |
7 | g.44145699T>A | CA367399249 | GCK | c.*1049A>T (n.*1049A>T) c.*171A>T (n.*171A>T) n.277A>T c.85A>T (p.Ile29Phe) c.1054A>T (p.Ile352Phe) c.1051A>T (p.Ile351Phe) c.1114A>T (p.Ile372Phe) n.63A>T c.103A>T (p.Ile35Phe) c.1048A>T (p.Ile350Phe) c.1000A>T (p.Ile334Phe) n.431A>T n.349A>T c.40A>T (p.Ile14Phe) c.-90A>T (n.-90A>T) | |
7 | g.44145699T>C | CA367399251 | GCK | c.*1049A>G (n.*1049A>G) c.*171A>G (n.*171A>G) n.277A>G c.85A>G (p.Ile29Val) c.1054A>G (p.Ile352Val) c.1051A>G (p.Ile351Val) c.1114A>G (p.Ile372Val) n.63A>G c.103A>G (p.Ile35Val) c.1048A>G (p.Ile350Val) c.1000A>G (p.Ile334Val) n.431A>G n.349A>G c.40A>G (p.Ile14Val) c.-90A>G (n.-90A>G) | |
7 | g.44145699T>G | CA367399253 | GCK | c.*1049A>C (n.*1049A>C) c.*171A>C (n.*171A>C) n.277A>C c.85A>C (p.Ile29Leu) c.1054A>C (p.Ile352Leu) c.1051A>C (p.Ile351Leu) c.1114A>C (p.Ile372Leu) n.63A>C c.103A>C (p.Ile35Leu) c.1048A>C (p.Ile350Leu) c.1000A>C (p.Ile334Leu) n.431A>C n.349A>C c.40A>C (p.Ile14Leu) c.-90A>C (n.-90A>C) | |
7 | g.44145700G>A | CA454863098 | GCK | c.*1048C>T (n.*1048C>T) c.*170C>T (n.*170C>T) n.276C>T c.84C>T (p.Asn28=) c.1053C>T (p.Asn351=) c.1050C>T (p.Asn350=) c.1113C>T (p.Asn371=) n.62C>T c.102C>T (p.Asn34=) c.1047C>T (p.Asn349=) c.999C>T (p.Asn333=) n.430C>T n.348C>T c.39C>T (p.Asn13=) c.-91C>T (n.-91C>T) | dbSNP gnomAD v4 |
7 | g.44145700G>C | CA367399254 | GCK | c.*1048C>G (n.*1048C>G) c.*170C>G (n.*170C>G) n.276C>G c.84C>G (p.Asn28Lys) c.1053C>G (p.Asn351Lys) c.1050C>G (p.Asn350Lys) c.1113C>G (p.Asn371Lys) n.62C>G c.102C>G (p.Asn34Lys) c.1047C>G (p.Asn349Lys) c.999C>G (p.Asn333Lys) n.430C>G n.348C>G c.39C>G (p.Asn13Lys) c.-91C>G (n.-91C>G) | |
7 | g.44145700G= | CA1703612961 | GCK | c.*1048C= (n.*1048C=) c.*170C= (n.*170C=) n.276C= c.84C= (p.Asn28=) c.1053C= (p.Asn351=) c.1050C= (p.Asn350=) c.1113C= (p.Asn371=) n.62C= c.102C= (p.Asn34=) c.1047C= (p.Asn349=) c.999C= (p.Asn333=) n.430C= n.348C= c.39C= (p.Asn13=) c.-91C= (n.-91C=) | |
7 | g.44145700G>T | CA367399256 | GCK | c.*1048C>A (n.*1048C>A) c.*170C>A (n.*170C>A) n.276C>A c.84C>A (p.Asn28Lys) c.1053C>A (p.Asn351Lys) c.1050C>A (p.Asn350Lys) c.1113C>A (p.Asn371Lys) n.62C>A c.102C>A (p.Asn34Lys) c.1047C>A (p.Asn349Lys) c.999C>A (p.Asn333Lys) n.430C>A n.348C>A c.39C>A (p.Asn13Lys) c.-91C>A (n.-91C>A) | gnomAD v4 |
7 | g.44145701T>A | CA367399258 | GCK | c.*1047A>T (n.*1047A>T) c.*169A>T (n.*169A>T) n.275A>T c.83A>T (p.Asn28Ile) c.1052A>T (p.Asn351Ile) c.1049A>T (p.Asn350Ile) c.1112A>T (p.Asn371Ile) n.61A>T c.101A>T (p.Asn34Ile) c.1046A>T (p.Asn349Ile) c.998A>T (p.Asn333Ile) n.429A>T n.347A>T c.38A>T (p.Asn13Ile) c.-92A>T (n.-92A>T) | |
7 | g.44145701T>C | CA367399260 | GCK | c.*1047A>G (n.*1047A>G) c.*169A>G (n.*169A>G) n.275A>G c.83A>G (p.Asn28Ser) c.1052A>G (p.Asn351Ser) c.1049A>G (p.Asn350Ser) c.1112A>G (p.Asn371Ser) n.61A>G c.101A>G (p.Asn34Ser) c.1046A>G (p.Asn349Ser) c.998A>G (p.Asn333Ser) n.429A>G n.347A>G c.38A>G (p.Asn13Ser) c.-92A>G (n.-92A>G) | |
7 | g.44145701T>G | CA367399262 | GCK | c.*1047A>C (n.*1047A>C) c.*169A>C (n.*169A>C) n.275A>C c.83A>C (p.Asn28Thr) c.1052A>C (p.Asn351Thr) c.1049A>C (p.Asn350Thr) c.1112A>C (p.Asn371Thr) n.61A>C c.101A>C (p.Asn34Thr) c.1046A>C (p.Asn349Thr) c.998A>C (p.Asn333Thr) n.429A>C n.347A>C c.38A>C (p.Asn13Thr) c.-92A>C (n.-92A>C) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145701T= | CA1703612962 | GCK | c.*1047A= (n.*1047A=) c.*169A= (n.*169A=) n.275A= c.83A= (p.Asn28=) c.1052A= (p.Asn351=) c.1049A= (p.Asn350=) c.1112A= (p.Asn371=) n.61A= c.101A= (p.Asn34=) c.1046A= (p.Asn349=) c.998A= (p.Asn333=) n.429A= n.347A= c.38A= (p.Asn13=) c.-92A= (n.-92A=) | |
7 | g.44145702T>A | CA367399264 | GCK | c.*1046A>T (n.*1046A>T) c.*168A>T (n.*168A>T) n.274A>T c.82A>T (p.Asn28Tyr) c.1051A>T (p.Asn351Tyr) c.1048A>T (p.Asn350Tyr) c.1111A>T (p.Asn371Tyr) n.60A>T c.100A>T (p.Asn34Tyr) c.1045A>T (p.Asn349Tyr) c.997A>T (p.Asn333Tyr) n.428A>T n.346A>T c.37A>T (p.Asn13Tyr) c.-93A>T (n.-93A>T) | |
7 | g.44145702T>C | CA367399266 | GCK | c.*1046A>G (n.*1046A>G) c.*168A>G (n.*168A>G) n.274A>G c.82A>G (p.Asn28Asp) c.1051A>G (p.Asn351Asp) c.1048A>G (p.Asn350Asp) c.1111A>G (p.Asn371Asp) n.60A>G c.100A>G (p.Asn34Asp) c.1045A>G (p.Asn349Asp) c.997A>G (p.Asn333Asp) n.428A>G n.346A>G c.37A>G (p.Asn13Asp) c.-93A>G (n.-93A>G) | |
7 | g.44145702T>G | CA367399268 | GCK | c.*1046A>C (n.*1046A>C) c.*168A>C (n.*168A>C) n.274A>C c.82A>C (p.Asn28His) c.1051A>C (p.Asn351His) c.1048A>C (p.Asn350His) c.1111A>C (p.Asn371His) n.60A>C c.100A>C (p.Asn34His) c.1045A>C (p.Asn349His) c.997A>C (p.Asn333His) n.428A>C n.346A>C c.37A>C (p.Asn13His) c.-93A>C (n.-93A>C) | |
7 | g.44145703G>A | CA454863100 | GCK | c.*1045C>T (n.*1045C>T) c.*167C>T (n.*167C>T) n.273C>T c.81C>T (p.Tyr27=) c.1050C>T (p.Tyr350=) c.1047C>T (p.Tyr349=) c.1110C>T (p.Tyr370=) n.59C>T c.99C>T (p.Tyr33=) c.1044C>T (p.Tyr348=) c.996C>T (p.Tyr332=) n.427C>T n.345C>T c.36C>T (p.Tyr12=) c.-94C>T (n.-94C>T) | |
7 | g.44145703G>C | CA367399270 | GCK | c.*1045C>G (n.*1045C>G) c.*167C>G (n.*167C>G) n.273C>G c.81C>G (p.Tyr27Ter) c.1050C>G (p.Tyr350Ter) c.1047C>G (p.Tyr349Ter) c.1110C>G (p.Tyr370Ter) n.59C>G c.99C>G (p.Tyr33Ter) c.1044C>G (p.Tyr348Ter) c.996C>G (p.Tyr332Ter) n.427C>G n.345C>G c.36C>G (p.Tyr12Ter) c.-94C>G (n.-94C>G) | |
7 | g.44145703G>T | CA367399273 | GCK | c.*1045C>A (n.*1045C>A) c.*167C>A (n.*167C>A) n.273C>A c.81C>A (p.Tyr27Ter) c.1050C>A (p.Tyr350Ter) c.1047C>A (p.Tyr349Ter) c.1110C>A (p.Tyr370Ter) n.59C>A c.99C>A (p.Tyr33Ter) c.1044C>A (p.Tyr348Ter) c.996C>A (p.Tyr332Ter) n.427C>A n.345C>A c.36C>A (p.Tyr12Ter) c.-94C>A (n.-94C>A) | gnomAD v4 |
7 | g.44145704T>A | CA367399277 | GCK | c.*1044A>T (n.*1044A>T) c.*166A>T (n.*166A>T) n.272A>T c.80A>T (p.Tyr27Phe) c.1049A>T (p.Tyr350Phe) c.1046A>T (p.Tyr349Phe) c.1109A>T (p.Tyr370Phe) n.58A>T c.98A>T (p.Tyr33Phe) c.1043A>T (p.Tyr348Phe) c.995A>T (p.Tyr332Phe) n.426A>T n.344A>T c.35A>T (p.Tyr12Phe) c.-95A>T (n.-95A>T) | |
7 | g.44145704T>C | CA367399279 | GCK | c.*1044A>G (n.*1044A>G) c.*166A>G (n.*166A>G) n.272A>G c.80A>G (p.Tyr27Cys) c.1049A>G (p.Tyr350Cys) c.1046A>G (p.Tyr349Cys) c.1109A>G (p.Tyr370Cys) n.58A>G c.98A>G (p.Tyr33Cys) c.1043A>G (p.Tyr348Cys) c.995A>G (p.Tyr332Cys) n.426A>G n.344A>G c.35A>G (p.Tyr12Cys) c.-95A>G (n.-95A>G) | gnomAD v4 |
7 | g.44145704T>G | CA367399282 | GCK | c.*1044A>C (n.*1044A>C) c.*166A>C (n.*166A>C) n.272A>C c.80A>C (p.Tyr27Ser) c.1049A>C (p.Tyr350Ser) c.1046A>C (p.Tyr349Ser) c.1109A>C (p.Tyr370Ser) n.58A>C c.98A>C (p.Tyr33Ser) c.1043A>C (p.Tyr348Ser) c.995A>C (p.Tyr332Ser) n.426A>C n.344A>C c.35A>C (p.Tyr12Ser) c.-95A>C (n.-95A>C) | gnomAD v4 |
7 | g.44145705A>C | CA367399287 | GCK | c.*1043T>G (n.*1043T>G) c.*165T>G (n.*165T>G) n.271T>G c.79T>G (p.Tyr27Asp) c.1048T>G (p.Tyr350Asp) c.1045T>G (p.Tyr349Asp) c.1108T>G (p.Tyr370Asp) n.57T>G c.97T>G (p.Tyr33Asp) c.1042T>G (p.Tyr348Asp) c.994T>G (p.Tyr332Asp) n.425T>G n.343T>G c.34T>G (p.Tyr12Asp) c.-96T>G (n.-96T>G) | |
7 | g.44145705A>G | CA367399290 | GCK | c.*1043T>C (n.*1043T>C) c.*165T>C (n.*165T>C) n.271T>C c.79T>C (p.Tyr27His) c.1048T>C (p.Tyr350His) c.1045T>C (p.Tyr349His) c.1108T>C (p.Tyr370His) n.57T>C c.97T>C (p.Tyr33His) c.1042T>C (p.Tyr348His) c.994T>C (p.Tyr332His) n.425T>C n.343T>C c.34T>C (p.Tyr12His) c.-96T>C (n.-96T>C) | gnomAD v4 |
7 | g.44145705A>T | CA367399284 | GCK | c.*1043T>A (n.*1043T>A) c.*165T>A (n.*165T>A) n.271T>A c.79T>A (p.Tyr27Asn) c.1048T>A (p.Tyr350Asn) c.1045T>A (p.Tyr349Asn) c.1108T>A (p.Tyr370Asn) n.57T>A c.97T>A (p.Tyr33Asn) c.1042T>A (p.Tyr348Asn) c.994T>A (p.Tyr332Asn) n.425T>A n.343T>A c.34T>A (p.Tyr12Asn) c.-96T>A (n.-96T>A) | |
7 | g.44145706G>A | CA454863102 | GCK | c.*1042C>T (n.*1042C>T) c.*164C>T (n.*164C>T) n.270C>T c.78C>T (p.Ile26=) c.1047C>T (p.Ile349=) c.1044C>T (p.Ile348=) c.1107C>T (p.Ile369=) n.56C>T c.96C>T (p.Ile32=) c.1041C>T (p.Ile347=) c.993C>T (p.Ile331=) n.424C>T n.342C>T c.33C>T (p.Ile11=) c.-97C>T (n.-97C>T) | dbSNP |
7 | g.44145706G>C | CA367399292 | GCK | c.*1042C>G (n.*1042C>G) c.*164C>G (n.*164C>G) n.270C>G c.78C>G (p.Ile26Met) c.1047C>G (p.Ile349Met) c.1044C>G (p.Ile348Met) c.1107C>G (p.Ile369Met) n.56C>G c.96C>G (p.Ile32Met) c.1041C>G (p.Ile347Met) c.993C>G (p.Ile331Met) n.424C>G n.342C>G c.33C>G (p.Ile11Met) c.-97C>G (n.-97C>G) | |
7 | g.44145706G>T | CA454863104 | GCK | c.*1042C>A (n.*1042C>A) c.*164C>A (n.*164C>A) n.270C>A c.78C>A (p.Ile26=) c.1047C>A (p.Ile349=) c.1044C>A (p.Ile348=) c.1107C>A (p.Ile369=) n.56C>A c.96C>A (p.Ile32=) c.1041C>A (p.Ile347=) c.993C>A (p.Ile331=) n.424C>A n.342C>A c.33C>A (p.Ile11=) c.-97C>A (n.-97C>A) | gnomAD v4 |
7 | g.44145707A>C | CA367399295 | GCK | c.*1041T>G (n.*1041T>G) c.*163T>G (n.*163T>G) n.269T>G c.77T>G (p.Ile26Ser) c.1046T>G (p.Ile349Ser) c.1043T>G (p.Ile348Ser) c.1106T>G (p.Ile369Ser) n.55T>G c.95T>G (p.Ile32Ser) c.1040T>G (p.Ile347Ser) c.992T>G (p.Ile331Ser) n.423T>G n.341T>G c.32T>G (p.Ile11Ser) c.-98T>G (n.-98T>G) | |
7 | g.44145707A>G | CA367399298 | GCK | c.*1041T>C (n.*1041T>C) c.*163T>C (n.*163T>C) n.269T>C c.77T>C (p.Ile26Thr) c.1046T>C (p.Ile349Thr) c.1043T>C (p.Ile348Thr) c.1106T>C (p.Ile369Thr) n.55T>C c.95T>C (p.Ile32Thr) c.1040T>C (p.Ile347Thr) c.992T>C (p.Ile331Thr) n.423T>C n.341T>C c.32T>C (p.Ile11Thr) c.-98T>C (n.-98T>C) | |
7 | g.44145707A>T | CA367399299 | GCK | c.*1041T>A (n.*1041T>A) c.*163T>A (n.*163T>A) n.269T>A c.77T>A (p.Ile26Asn) c.1046T>A (p.Ile349Asn) c.1043T>A (p.Ile348Asn) c.1106T>A (p.Ile369Asn) n.55T>A c.95T>A (p.Ile32Asn) c.1040T>A (p.Ile347Asn) c.992T>A (p.Ile331Asn) n.423T>A n.341T>A c.32T>A (p.Ile11Asn) c.-98T>A (n.-98T>A) | |
7 | g.44145708T>A | CA213707 | GCK | c.*1040A>T (n.*1040A>T) c.*162A>T (n.*162A>T) n.268A>T c.76A>T (p.Ile26Phe) c.1045A>T (p.Ile349Phe) c.1042A>T (p.Ile348Phe) c.1105A>T (p.Ile369Phe) n.54A>T c.94A>T (p.Ile32Phe) c.1039A>T (p.Ile347Phe) c.991A>T (p.Ile331Phe) n.422A>T n.340A>T c.31A>T (p.Ile11Phe) c.-99A>T (n.-99A>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.44145708T>C | CA367399304 | GCK | c.*1040A>G (n.*1040A>G) c.*162A>G (n.*162A>G) n.268A>G c.76A>G (p.Ile26Val) c.1045A>G (p.Ile349Val) c.1042A>G (p.Ile348Val) c.1105A>G (p.Ile369Val) n.54A>G c.94A>G (p.Ile32Val) c.1039A>G (p.Ile347Val) c.991A>G (p.Ile331Val) n.422A>G n.340A>G c.31A>G (p.Ile11Val) c.-99A>G (n.-99A>G) | gnomAD v4 |
7 | g.44145708T>G | CA367399306 | GCK | c.*1040A>C (n.*1040A>C) c.*162A>C (n.*162A>C) n.268A>C c.76A>C (p.Ile26Leu) c.1045A>C (p.Ile349Leu) c.1042A>C (p.Ile348Leu) c.1105A>C (p.Ile369Leu) n.54A>C c.94A>C (p.Ile32Leu) c.1039A>C (p.Ile347Leu) c.991A>C (p.Ile331Leu) n.422A>C n.340A>C c.31A>C (p.Ile11Leu) c.-99A>C (n.-99A>C) | |
7 | g.44145708T= | CA1703612963 | GCK | c.*1040A= (n.*1040A=) c.*162A= (n.*162A=) n.268A= c.76A= (p.Ile26=) c.1045A= (p.Ile349=) c.1042A= (p.Ile348=) c.1105A= (p.Ile369=) n.54A= c.94A= (p.Ile32=) c.1039A= (p.Ile347=) c.991A= (p.Ile331=) n.422A= n.340A= c.31A= (p.Ile11=) c.-99A= (n.-99A=) | |
7 | g.44145709C>A | CA367399309 | GCK | c.*1039G>T (n.*1039G>T) c.*161G>T (n.*161G>T) n.267G>T c.75G>T (p.Gln25His) c.1044G>T (p.Gln348His) c.1041G>T (p.Gln347His) c.1104G>T (p.Gln368His) n.53G>T c.93G>T (p.Gln31His) c.1038G>T (p.Gln346His) c.990G>T (p.Gln330His) n.421G>T n.339G>T c.30G>T (p.Gln10His) c.-100G>T (n.-100G>T) | gnomAD v4 |
7 | g.44145709C>G | CA367399310 | GCK | c.*1039G>C (n.*1039G>C) c.*161G>C (n.*161G>C) n.267G>C c.75G>C (p.Gln25His) c.1044G>C (p.Gln348His) c.1041G>C (p.Gln347His) c.1104G>C (p.Gln368His) n.53G>C c.93G>C (p.Gln31His) c.1038G>C (p.Gln346His) c.990G>C (p.Gln330His) n.421G>C n.339G>C c.30G>C (p.Gln10His) c.-100G>C (n.-100G>C) | |
7 | g.44145709C>T | CA454863106 | GCK | c.*1039G>A (n.*1039G>A) c.*161G>A (n.*161G>A) n.267G>A c.75G>A (p.Gln25=) c.1044G>A (p.Gln348=) c.1041G>A (p.Gln347=) c.1104G>A (p.Gln368=) n.53G>A c.93G>A (p.Gln31=) c.1038G>A (p.Gln346=) c.990G>A (p.Gln330=) n.421G>A n.339G>A c.30G>A (p.Gln10=) c.-100G>A (n.-100G>A) | |
7 | g.44145710T>A | CA367399313 | GCK | c.*1038A>T (n.*1038A>T) c.*160A>T (n.*160A>T) n.266A>T c.74A>T (p.Gln25Leu) c.1043A>T (p.Gln348Leu) c.1040A>T (p.Gln347Leu) c.1103A>T (p.Gln368Leu) n.52A>T c.92A>T (p.Gln31Leu) c.1037A>T (p.Gln346Leu) c.989A>T (p.Gln330Leu) n.420A>T n.338A>T c.29A>T (p.Gln10Leu) c.-101A>T (n.-101A>T) | |
7 | g.44145710T>C | CA367399314 | GCK | c.*1038A>G (n.*1038A>G) c.*160A>G (n.*160A>G) n.266A>G c.74A>G (p.Gln25Arg) c.1043A>G (p.Gln348Arg) c.1040A>G (p.Gln347Arg) c.1103A>G (p.Gln368Arg) n.52A>G c.92A>G (p.Gln31Arg) c.1037A>G (p.Gln346Arg) c.989A>G (p.Gln330Arg) n.420A>G n.338A>G c.29A>G (p.Gln10Arg) c.-101A>G (n.-101A>G) | |
7 | g.44145710T>G | CA367399317 | GCK | c.*1038A>C (n.*1038A>C) c.*160A>C (n.*160A>C) n.266A>C c.74A>C (p.Gln25Pro) c.1043A>C (p.Gln348Pro) c.1040A>C (p.Gln347Pro) c.1103A>C (p.Gln368Pro) n.52A>C c.92A>C (p.Gln31Pro) c.1037A>C (p.Gln346Pro) c.989A>C (p.Gln330Pro) n.420A>C n.338A>C c.29A>C (p.Gln10Pro) c.-101A>C (n.-101A>C) | |
7 | g.44145711G>A | CA157913729 | GCK | c.*1037C>T (n.*1037C>T) c.*159C>T (n.*159C>T) n.265C>T c.73C>T (p.Gln25Ter) c.1042C>T (p.Gln348Ter) c.1039C>T (p.Gln347Ter) c.1102C>T (p.Gln368Ter) n.51C>T c.91C>T (p.Gln31Ter) c.1036C>T (p.Gln346Ter) c.988C>T (p.Gln330Ter) n.419C>T n.337C>T c.28C>T (p.Gln10Ter) c.-102C>T (n.-102C>T) | dbSNP gnomAD v4 |
7 | g.44145711G>C | CA367399322 | GCK | c.*1037C>G (n.*1037C>G) c.*159C>G (n.*159C>G) n.265C>G c.73C>G (p.Gln25Glu) c.1042C>G (p.Gln348Glu) c.1039C>G (p.Gln347Glu) c.1102C>G (p.Gln368Glu) n.51C>G c.91C>G (p.Gln31Glu) c.1036C>G (p.Gln346Glu) c.988C>G (p.Gln330Glu) n.419C>G n.337C>G c.28C>G (p.Gln10Glu) c.-102C>G (n.-102C>G) | |
7 | g.44145711G= | CA1703612964 | GCK | c.*1037C= (n.*1037C=) c.*159C= (n.*159C=) n.265C= c.73C= (p.Gln25=) c.1042C= (p.Gln348=) c.1039C= (p.Gln347=) c.1102C= (p.Gln368=) n.51C= c.91C= (p.Gln31=) c.1036C= (p.Gln346=) c.988C= (p.Gln330=) n.419C= n.337C= c.28C= (p.Gln10=) c.-102C= (n.-102C=) | |
7 | g.44145711G>T | CA367399319 | GCK | c.*1037C>A (n.*1037C>A) c.*159C>A (n.*159C>A) n.265C>A c.73C>A (p.Gln25Lys) c.1042C>A (p.Gln348Lys) c.1039C>A (p.Gln347Lys) c.1102C>A (p.Gln368Lys) n.51C>A c.91C>A (p.Gln31Lys) c.1036C>A (p.Gln346Lys) c.988C>A (p.Gln330Lys) n.419C>A n.337C>A c.28C>A (p.Gln10Lys) c.-102C>A (n.-102C>A) | gnomAD v4 |
7 | g.44145711_44145715del | CA2568370799 | GCK | c.*1033_*1037del (n.*1033_*1037del) c.*155_*159del (n.*155_*159del) n.261_265del c.69_73del (p.Lys24AspfsTer?) c.1038_1042del (p.Lys347AspfsTer?) c.1035_1039del (p.Lys346AspfsTer?) c.1098_1102del (p.Lys367AspfsTer?) n.47_51del c.87_91del (p.Lys30AspfsTer?) c.1032_1036del (p.Lys345AspfsTer?) c.984_988del (p.Lys329AspfsTer?) n.415_419del n.333_337del c.24_28del (p.Lys9AspfsTer?) c.-106_-102del (n.-106_-102del) | |
7 | g.44145713_44145722del | CA2580612102 | GCK | c.*1028_*1037del (n.*1028_*1037del) c.*150_*159del (n.*150_*159del) n.256_265del c.64_73del (p.Asp22ArgfsTer6) c.1033_1042del (p.Asp345ArgfsTer6) c.1030_1039del (p.Asp344ArgfsTer6) c.1093_1102del (p.Asp365ArgfsTer6) n.42_51del c.82_91del (p.Asp28ArgfsTer6) c.1027_1036del (p.Asp343ArgfsTer6) c.979_988del (p.Asp327ArgfsTer6) n.410_419del n.328_337del c.19_28del (p.Asp7ArgfsTer6) c.-111_-102del (n.-111_-102del) | ClinVar |
7 | g.44145712C>A | CA367399324 | GCK | c.*1036G>T (n.*1036G>T) c.*158G>T (n.*158G>T) n.264G>T c.72G>T (p.Lys24Asn) c.1041G>T (p.Lys347Asn) c.1038G>T (p.Lys346Asn) c.1101G>T (p.Lys367Asn) n.50G>T c.90G>T (p.Lys30Asn) c.1035G>T (p.Lys345Asn) c.987G>T (p.Lys329Asn) n.418G>T n.336G>T c.27G>T (p.Lys9Asn) c.-103G>T (n.-103G>T) | gnomAD v4 |
7 | g.44145712C>G | CA367399326 | GCK | c.*1036G>C (n.*1036G>C) c.*158G>C (n.*158G>C) n.264G>C c.72G>C (p.Lys24Asn) c.1041G>C (p.Lys347Asn) c.1038G>C (p.Lys346Asn) c.1101G>C (p.Lys367Asn) n.50G>C c.90G>C (p.Lys30Asn) c.1035G>C (p.Lys345Asn) c.987G>C (p.Lys329Asn) n.418G>C n.336G>C c.27G>C (p.Lys9Asn) c.-103G>C (n.-103G>C) | |
7 | g.44145712C>T | CA454863113 | GCK | c.*1036G>A (n.*1036G>A) c.*158G>A (n.*158G>A) n.264G>A c.72G>A (p.Lys24=) c.1041G>A (p.Lys347=) c.1038G>A (p.Lys346=) c.1101G>A (p.Lys367=) n.50G>A c.90G>A (p.Lys30=) c.1035G>A (p.Lys345=) c.987G>A (p.Lys329=) n.418G>A n.336G>A c.27G>A (p.Lys9=) c.-103G>A (n.-103G>A) | |
7 | g.44145713T>A | CA367399328 | GCK | c.*1035A>T (n.*1035A>T) c.*157A>T (n.*157A>T) n.263A>T c.71A>T (p.Lys24Met) c.1040A>T (p.Lys347Met) c.1037A>T (p.Lys346Met) c.1100A>T (p.Lys367Met) n.49A>T c.89A>T (p.Lys30Met) c.1034A>T (p.Lys345Met) c.986A>T (p.Lys329Met) n.417A>T n.335A>T c.26A>T (p.Lys9Met) c.-104A>T (n.-104A>T) | |
7 | g.44145713T>C | CA367399330 | GCK | c.*1035A>G (n.*1035A>G) c.*157A>G (n.*157A>G) n.263A>G c.71A>G (p.Lys24Arg) c.1040A>G (p.Lys347Arg) c.1037A>G (p.Lys346Arg) c.1100A>G (p.Lys367Arg) n.49A>G c.89A>G (p.Lys30Arg) c.1034A>G (p.Lys345Arg) c.986A>G (p.Lys329Arg) n.417A>G n.335A>G c.26A>G (p.Lys9Arg) c.-104A>G (n.-104A>G) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145713T>G | CA367399334 | GCK | c.*1035A>C (n.*1035A>C) c.*157A>C (n.*157A>C) n.263A>C c.71A>C (p.Lys24Thr) c.1040A>C (p.Lys347Thr) c.1037A>C (p.Lys346Thr) c.1100A>C (p.Lys367Thr) n.49A>C c.89A>C (p.Lys30Thr) c.1034A>C (p.Lys345Thr) c.986A>C (p.Lys329Thr) n.417A>C n.335A>C c.26A>C (p.Lys9Thr) c.-104A>C (n.-104A>C) | |
7 | g.44145713T= | CA1703612965 | GCK | c.*1035A= (n.*1035A=) c.*157A= (n.*157A=) n.263A= c.71A= (p.Lys24=) c.1040A= (p.Lys347=) c.1037A= (p.Lys346=) c.1100A= (p.Lys367=) n.49A= c.89A= (p.Lys30=) c.1034A= (p.Lys345=) c.986A= (p.Lys329=) n.417A= n.335A= c.26A= (p.Lys9=) c.-104A= (n.-104A=) | |
7 | g.44145714T>A | CA367399342 | GCK | c.*1034A>T (n.*1034A>T) c.*156A>T (n.*156A>T) n.262A>T c.70A>T (p.Lys24Ter) c.1039A>T (p.Lys347Ter) c.1036A>T (p.Lys346Ter) c.1099A>T (p.Lys367Ter) n.48A>T c.88A>T (p.Lys30Ter) c.1033A>T (p.Lys345Ter) c.985A>T (p.Lys329Ter) n.416A>T n.334A>T c.25A>T (p.Lys9Ter) c.-105A>T (n.-105A>T) | |
7 | g.44145714T>C | CA367399338 | GCK | c.*1034A>G (n.*1034A>G) c.*156A>G (n.*156A>G) n.262A>G c.70A>G (p.Lys24Glu) c.1039A>G (p.Lys347Glu) c.1036A>G (p.Lys346Glu) c.1099A>G (p.Lys367Glu) n.48A>G c.88A>G (p.Lys30Glu) c.1033A>G (p.Lys345Glu) c.985A>G (p.Lys329Glu) n.416A>G n.334A>G c.25A>G (p.Lys9Glu) c.-105A>G (n.-105A>G) | |
7 | g.44145714T>G | CA367399339 | GCK | c.*1034A>C (n.*1034A>C) c.*156A>C (n.*156A>C) n.262A>C c.70A>C (p.Lys24Gln) c.1039A>C (p.Lys347Gln) c.1036A>C (p.Lys346Gln) c.1099A>C (p.Lys367Gln) n.48A>C c.88A>C (p.Lys30Gln) c.1033A>C (p.Lys345Gln) c.985A>C (p.Lys329Gln) n.416A>C n.334A>C c.25A>C (p.Lys9Gln) c.-105A>C (n.-105A>C) | |
7 | g.44145715del | CA2578877953 | GCK | c.*1033del (n.*1033del) c.*155del (n.*155del) n.261del c.69del (p.Lys24SerfsTer7) c.1038del (p.Lys347SerfsTer7) c.1035del (p.Lys346SerfsTer7) c.1098del (p.Lys367SerfsTer7) n.47del c.87del (p.Lys30SerfsTer7) c.1032del (p.Lys345SerfsTer7) c.984del (p.Lys329SerfsTer7) n.415del n.333del c.24del (p.Lys9SerfsTer7) c.-106del (n.-106del) | |
7 | g.44145715G>A | CA454863115 | GCK | c.*1033C>T (n.*1033C>T) c.*155C>T (n.*155C>T) n.261C>T c.69C>T (p.Arg23=) c.1038C>T (p.Arg346=) c.1035C>T (p.Arg345=) c.1098C>T (p.Arg366=) n.47C>T c.87C>T (p.Arg29=) c.1032C>T (p.Arg344=) c.984C>T (p.Arg328=) n.415C>T n.333C>T c.24C>T (p.Arg8=) c.-106C>T (n.-106C>T) | |
7 | g.44145715G>C | CA454863117 | GCK | c.*1033C>G (n.*1033C>G) c.*155C>G (n.*155C>G) n.261C>G c.69C>G (p.Arg23=) c.1038C>G (p.Arg346=) c.1035C>G (p.Arg345=) c.1098C>G (p.Arg366=) n.47C>G c.87C>G (p.Arg29=) c.1032C>G (p.Arg344=) c.984C>G (p.Arg328=) n.415C>G n.333C>G c.24C>G (p.Arg8=) c.-106C>G (n.-106C>G) | |
7 | g.44145715G= | CA1703612966 | GCK | c.*1033C= (n.*1033C=) c.*155C= (n.*155C=) n.261C= c.69C= (p.Arg23=) c.1038C= (p.Arg346=) c.1035C= (p.Arg345=) c.1098C= (p.Arg366=) n.47C= c.87C= (p.Arg29=) c.1032C= (p.Arg344=) c.984C= (p.Arg328=) n.415C= n.333C= c.24C= (p.Arg8=) c.-106C= (n.-106C=) | |
7 | g.44145715G>T | CA454863118 | GCK | c.*1033C>A (n.*1033C>A) c.*155C>A (n.*155C>A) n.261C>A c.69C>A (p.Arg23=) c.1038C>A (p.Arg346=) c.1035C>A (p.Arg345=) c.1098C>A (p.Arg366=) n.47C>A c.87C>A (p.Arg29=) c.1032C>A (p.Arg344=) c.984C>A (p.Arg328=) n.415C>A n.333C>A c.24C>A (p.Arg8=) c.-106C>A (n.-106C>A) | gnomAD v4 |
7 | g.44145716_44145717del | CA2578877935 | GCK | c.*1032_*1033del (n.*1032_*1033del) c.*154_*155del (n.*154_*155del) n.260_261del c.68_69del (p.Arg23GlnfsTer?) c.1037_1038del (p.Arg346GlnfsTer?) c.1034_1035del (p.Arg345GlnfsTer?) c.1097_1098del (p.Arg366GlnfsTer?) n.46_47del c.86_87del (p.Arg29GlnfsTer?) c.1031_1032del (p.Arg344GlnfsTer?) c.983_984del (p.Arg328GlnfsTer?) n.414_415del n.332_333del c.23_24del (p.Arg8GlnfsTer?) c.-107_-106del (n.-107_-106del) | |
7 | g.44145719_44145741del | CA2695203055 | GCK | c.*1018-7_*1033del c.*140-7_*155del n.246-7_261del c.54-7_69del c.1023-7_1038del c.1020-7_1035del c.1083-7_1098del n.32-7_47del c.72-7_87del c.1017-7_1032del c.969-7_984del n.393_415del n.318-7_333del c.9-7_24del c.-121-7_-106del | |
7 | g.44145716C>A | CA367399346 | GCK | c.*1032G>T (n.*1032G>T) c.*154G>T (n.*154G>T) n.260G>T c.68G>T (p.Arg23Leu) c.1037G>T (p.Arg346Leu) c.1034G>T (p.Arg345Leu) c.1097G>T (p.Arg366Leu) n.46G>T c.86G>T (p.Arg29Leu) c.1031G>T (p.Arg344Leu) c.983G>T (p.Arg328Leu) n.414G>T n.332G>T c.23G>T (p.Arg8Leu) c.-107G>T (n.-107G>T) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145716C= | CA1703612967 | GCK | c.*1032G= (n.*1032G=) c.*154G= (n.*154G=) n.260G= c.68G= (p.Arg23=) c.1037G= (p.Arg346=) c.1034G= (p.Arg345=) c.1097G= (p.Arg366=) n.46G= c.86G= (p.Arg29=) c.1031G= (p.Arg344=) c.983G= (p.Arg328=) n.414G= n.332G= c.23G= (p.Arg8=) c.-107G= (n.-107G=) | |
7 | g.44145716C>G | CA367399348 | GCK | c.*1032G>C (n.*1032G>C) c.*154G>C (n.*154G>C) n.260G>C c.68G>C (p.Arg23Pro) c.1037G>C (p.Arg346Pro) c.1034G>C (p.Arg345Pro) c.1097G>C (p.Arg366Pro) n.46G>C c.86G>C (p.Arg29Pro) c.1031G>C (p.Arg344Pro) c.983G>C (p.Arg328Pro) n.414G>C n.332G>C c.23G>C (p.Arg8Pro) c.-107G>C (n.-107G>C) | |
7 | g.44145716C>T | CA367399350 | GCK | c.*1032G>A (n.*1032G>A) c.*154G>A (n.*154G>A) n.260G>A c.68G>A (p.Arg23His) c.1037G>A (p.Arg346His) c.1034G>A (p.Arg345His) c.1097G>A (p.Arg366His) n.46G>A c.86G>A (p.Arg29His) c.1031G>A (p.Arg344His) c.983G>A (p.Arg328His) n.414G>A n.332G>A c.23G>A (p.Arg8His) c.-107G>A (n.-107G>A) | gnomAD v4 COSMIC COSMIC COSMIC |
7 | g.44145718_44145721dup | CA915944916 | GCK | c.*1029_*1032dup (n.*1029_*1032dup) c.*151_*154dup (n.*151_*154dup) n.257_260dup c.65_68dup (p.Lys24ProfsTer?) c.1034_1037dup (p.Lys347ProfsTer?) c.1031_1034dup (p.Lys346ProfsTer?) c.1094_1097dup (p.Lys367ProfsTer?) n.43_46dup c.83_86dup (p.Lys30ProfsTer?) c.1028_1031dup (p.Lys345ProfsTer?) c.980_983dup (p.Lys329ProfsTer?) n.411_414dup n.329_332dup c.20_23dup (p.Lys9ProfsTer?) c.-110_-107dup (n.-110_-107dup) | ClinVar dbSNP |
7 | g.44145717G>A | CA367399352 | GCK | c.*1031C>T (n.*1031C>T) c.*153C>T (n.*153C>T) n.259C>T c.67C>T (p.Arg23Cys) c.1036C>T (p.Arg346Cys) c.1033C>T (p.Arg345Cys) c.1096C>T (p.Arg366Cys) n.45C>T c.85C>T (p.Arg29Cys) c.1030C>T (p.Arg344Cys) c.982C>T (p.Arg328Cys) n.413C>T n.331C>T c.22C>T (p.Arg8Cys) c.-108C>T (n.-108C>T) | gnomAD v4 |
7 | g.44145717G>C | CA367399354 | GCK | c.*1031C>G (n.*1031C>G) c.*153C>G (n.*153C>G) n.259C>G c.67C>G (p.Arg23Gly) c.1036C>G (p.Arg346Gly) c.1033C>G (p.Arg345Gly) c.1096C>G (p.Arg366Gly) n.45C>G c.85C>G (p.Arg29Gly) c.1030C>G (p.Arg344Gly) c.982C>G (p.Arg328Gly) n.413C>G n.331C>G c.22C>G (p.Arg8Gly) c.-108C>G (n.-108C>G) | ClinVar dbSNP gnomAD v4 |
7 | g.44145717G= | CA1703612968 | GCK | c.*1031C= (n.*1031C=) c.*153C= (n.*153C=) n.259C= c.67C= (p.Arg23=) c.1036C= (p.Arg346=) c.1033C= (p.Arg345=) c.1096C= (p.Arg366=) n.45C= c.85C= (p.Arg29=) c.1030C= (p.Arg344=) c.982C= (p.Arg328=) n.413C= n.331C= c.22C= (p.Arg8=) c.-108C= (n.-108C=) | |
7 | g.44145717G>T | CA367399356 | GCK | c.*1031C>A (n.*1031C>A) c.*153C>A (n.*153C>A) n.259C>A c.67C>A (p.Arg23Ser) c.1036C>A (p.Arg346Ser) c.1033C>A (p.Arg345Ser) c.1096C>A (p.Arg366Ser) n.45C>A c.85C>A (p.Arg29Ser) c.1030C>A (p.Arg344Ser) c.982C>A (p.Arg328Ser) n.413C>A n.331C>A c.22C>A (p.Arg8Ser) c.-108C>A (n.-108C>A) | gnomAD v4 |
7 | g.44145718G>A | CA454863120 | GCK | c.*1030C>T (n.*1030C>T) c.*152C>T (n.*152C>T) n.258C>T c.66C>T (p.Asp22=) c.1035C>T (p.Asp345=) c.1032C>T (p.Asp344=) c.1095C>T (p.Asp365=) n.44C>T c.84C>T (p.Asp28=) c.1029C>T (p.Asp343=) c.981C>T (p.Asp327=) n.412C>T n.330C>T c.21C>T (p.Asp7=) c.-109C>T (n.-109C>T) | |
7 | g.44145718G>C | CA367399359 | GCK | c.*1030C>G (n.*1030C>G) c.*152C>G (n.*152C>G) n.258C>G c.66C>G (p.Asp22Glu) c.1035C>G (p.Asp345Glu) c.1032C>G (p.Asp344Glu) c.1095C>G (p.Asp365Glu) n.44C>G c.84C>G (p.Asp28Glu) c.1029C>G (p.Asp343Glu) c.981C>G (p.Asp327Glu) n.412C>G n.330C>G c.21C>G (p.Asp7Glu) c.-109C>G (n.-109C>G) | |
7 | g.44145718G>T | CA367399360 | GCK | c.*1030C>A (n.*1030C>A) c.*152C>A (n.*152C>A) n.258C>A c.66C>A (p.Asp22Glu) c.1035C>A (p.Asp345Glu) c.1032C>A (p.Asp344Glu) c.1095C>A (p.Asp365Glu) n.44C>A c.84C>A (p.Asp28Glu) c.1029C>A (p.Asp343Glu) c.981C>A (p.Asp327Glu) n.412C>A n.330C>A c.21C>A (p.Asp7Glu) c.-109C>A (n.-109C>A) | gnomAD v4 |
7 | g.44145719T>A | CA367399362 | GCK | c.*1029A>T (n.*1029A>T) c.*151A>T (n.*151A>T) n.257A>T c.65A>T (p.Asp22Val) c.1034A>T (p.Asp345Val) c.1031A>T (p.Asp344Val) c.1094A>T (p.Asp365Val) n.43A>T c.83A>T (p.Asp28Val) c.1028A>T (p.Asp343Val) c.980A>T (p.Asp327Val) n.411A>T n.329A>T c.20A>T (p.Asp7Val) c.-110A>T (n.-110A>T) | gnomAD v4 |
7 | g.44145719T>C | CA367399367 | GCK | c.*1029A>G (n.*1029A>G) c.*151A>G (n.*151A>G) n.257A>G c.65A>G (p.Asp22Gly) c.1034A>G (p.Asp345Gly) c.1031A>G (p.Asp344Gly) c.1094A>G (p.Asp365Gly) n.43A>G c.83A>G (p.Asp28Gly) c.1028A>G (p.Asp343Gly) c.980A>G (p.Asp327Gly) n.411A>G n.329A>G c.20A>G (p.Asp7Gly) c.-110A>G (n.-110A>G) | |
7 | g.44145719T>G | CA367399365 | GCK | c.*1029A>C (n.*1029A>C) c.*151A>C (n.*151A>C) n.257A>C c.65A>C (p.Asp22Ala) c.1034A>C (p.Asp345Ala) c.1031A>C (p.Asp344Ala) c.1094A>C (p.Asp365Ala) n.43A>C c.83A>C (p.Asp28Ala) c.1028A>C (p.Asp343Ala) c.980A>C (p.Asp327Ala) n.411A>C n.329A>C c.20A>C (p.Asp7Ala) c.-110A>C (n.-110A>C) | |
7 | g.44145720del | CA2531791184 | GCK | c.*1028del (n.*1028del) c.*150del (n.*150del) n.256del c.64del (p.Asp22ThrfsTer9) c.1033del (p.Asp345ThrfsTer9) c.1030del (p.Asp344ThrfsTer9) c.1093del (p.Asp365ThrfsTer9) n.42del c.82del (p.Asp28ThrfsTer9) c.1027del (p.Asp343ThrfsTer9) c.979del (p.Asp327ThrfsTer9) n.410del n.328del c.19del (p.Asp7ThrfsTer9) c.-111del (n.-111del) | |
7 | g.44145720C>A | CA279947 | GCK | c.*1028G>T (n.*1028G>T) c.*150G>T (n.*150G>T) n.256G>T c.64G>T (p.Asp22Tyr) c.1033G>T (p.Asp345Tyr) c.1030G>T (p.Asp344Tyr) c.1093G>T (p.Asp365Tyr) n.42G>T c.82G>T (p.Asp28Tyr) c.1027G>T (p.Asp343Tyr) c.979G>T (p.Asp327Tyr) n.410G>T n.328G>T c.19G>T (p.Asp7Tyr) c.-111G>T (n.-111G>T) | ClinVar dbSNP gnomAD v4 |
7 | g.44145720C= | CA1703612969 | GCK | c.*1028G= (n.*1028G=) c.*150G= (n.*150G=) n.256G= c.64G= (p.Asp22=) c.1033G= (p.Asp345=) c.1030G= (p.Asp344=) c.1093G= (p.Asp365=) n.42G= c.82G= (p.Asp28=) c.1027G= (p.Asp343=) c.979G= (p.Asp327=) n.410G= n.328G= c.19G= (p.Asp7=) c.-111G= (n.-111G=) | |
7 | g.44145720C>G | CA367399369 | GCK | c.*1028G>C (n.*1028G>C) c.*150G>C (n.*150G>C) n.256G>C c.64G>C (p.Asp22His) c.1033G>C (p.Asp345His) c.1030G>C (p.Asp344His) c.1093G>C (p.Asp365His) n.42G>C c.82G>C (p.Asp28His) c.1027G>C (p.Asp343His) c.979G>C (p.Asp327His) n.410G>C n.328G>C c.19G>C (p.Asp7His) c.-111G>C (n.-111G>C) | |
7 | g.44145720C>T | CA367399372 | GCK | c.*1028G>A (n.*1028G>A) c.*150G>A (n.*150G>A) n.256G>A c.64G>A (p.Asp22Asn) c.1033G>A (p.Asp345Asn) c.1030G>A (p.Asp344Asn) c.1093G>A (p.Asp365Asn) n.42G>A c.82G>A (p.Asp28Asn) c.1027G>A (p.Asp343Asn) c.979G>A (p.Asp327Asn) n.410G>A n.328G>A c.19G>A (p.Asp7Asn) c.-111G>A (n.-111G>A) | gnomAD v4 |
7 | g.44145721G>A | CA454863121 | GCK | c.*1027C>T (n.*1027C>T) c.*149C>T (n.*149C>T) n.255C>T c.63C>T (p.Gly21=) c.1032C>T (p.Gly344=) c.1029C>T (p.Gly343=) c.1092C>T (p.Gly364=) n.41C>T c.81C>T (p.Gly27=) c.1026C>T (p.Gly342=) c.978C>T (p.Gly326=) n.409C>T n.327C>T c.18C>T (p.Gly6=) c.-112C>T (n.-112C>T) | gnomAD v4 COSMIC COSMIC COSMIC |
7 | g.44145721G>C | CA454863123 | GCK | c.*1027C>G (n.*1027C>G) c.*149C>G (n.*149C>G) n.255C>G c.63C>G (p.Gly21=) c.1032C>G (p.Gly344=) c.1029C>G (p.Gly343=) c.1092C>G (p.Gly364=) n.41C>G c.81C>G (p.Gly27=) c.1026C>G (p.Gly342=) c.978C>G (p.Gly326=) n.409C>G n.327C>G c.18C>G (p.Gly6=) c.-112C>G (n.-112C>G) | |
7 | g.44145721G>T | CA454863125 | GCK | c.*1027C>A (n.*1027C>A) c.*149C>A (n.*149C>A) n.255C>A c.63C>A (p.Gly21=) c.1032C>A (p.Gly344=) c.1029C>A (p.Gly343=) c.1092C>A (p.Gly364=) n.41C>A c.81C>A (p.Gly27=) c.1026C>A (p.Gly342=) c.978C>A (p.Gly326=) n.409C>A n.327C>A c.18C>A (p.Gly6=) c.-112C>A (n.-112C>A) | gnomAD v4 |
7 | g.44145722C>A | CA367399374 | GCK | c.*1026G>T (n.*1026G>T) c.*148G>T (n.*148G>T) n.254G>T c.62G>T (p.Gly21Val) c.1031G>T (p.Gly344Val) c.1028G>T (p.Gly343Val) c.1091G>T (p.Gly364Val) n.40G>T c.80G>T (p.Gly27Val) c.1025G>T (p.Gly342Val) c.977G>T (p.Gly326Val) n.408G>T n.326G>T c.17G>T (p.Gly6Val) c.-113G>T (n.-113G>T) | gnomAD v4 |
7 | g.44145722C>G | CA367399376 | GCK | c.*1026G>C (n.*1026G>C) c.*148G>C (n.*148G>C) n.254G>C c.62G>C (p.Gly21Ala) c.1031G>C (p.Gly344Ala) c.1028G>C (p.Gly343Ala) c.1091G>C (p.Gly364Ala) n.40G>C c.80G>C (p.Gly27Ala) c.1025G>C (p.Gly342Ala) c.977G>C (p.Gly326Ala) n.408G>C n.326G>C c.17G>C (p.Gly6Ala) c.-113G>C (n.-113G>C) | |
7 | g.44145722C>T | CA367399378 | GCK | c.*1026G>A (n.*1026G>A) c.*148G>A (n.*148G>A) n.254G>A c.62G>A (p.Gly21Asp) c.1031G>A (p.Gly344Asp) c.1028G>A (p.Gly343Asp) c.1091G>A (p.Gly364Asp) n.40G>A c.80G>A (p.Gly27Asp) c.1025G>A (p.Gly342Asp) c.977G>A (p.Gly326Asp) n.408G>A n.326G>A c.17G>A (p.Gly6Asp) c.-113G>A (n.-113G>A) | gnomAD v4 |
7 | g.44145724del | CA2695203056 | GCK | c.*1026del (n.*1026del) c.*148del (n.*148del) n.254del c.62del (p.Gly21AlafsTer10) c.1031del (p.Gly344AlafsTer10) c.1028del (p.Gly343AlafsTer10) c.1091del (p.Gly364AlafsTer10) n.40del c.80del (p.Gly27AlafsTer10) c.1025del (p.Gly342AlafsTer10) c.977del (p.Gly326AlafsTer10) n.408del n.326del c.17del (p.Gly6AlafsTer10) c.-113del (n.-113del) | |
7 | g.44145722_44145726del | CA2546842488 | GCK | c.*1022_*1026del (n.*1022_*1026del) c.*144_*148del (n.*144_*148del) n.250_254del c.58_62del (p.Thr20ArgfsTer?) c.1027_1031del (p.Thr343ArgfsTer?) c.1024_1028del (p.Thr342ArgfsTer?) c.1087_1091del (p.Thr363ArgfsTer?) n.36_40del c.76_80del (p.Thr26ArgfsTer?) c.1021_1025del (p.Thr341ArgfsTer?) c.973_977del (p.Thr325ArgfsTer?) n.404_408del n.322_326del c.13_17del (p.Thr5ArgfsTer?) c.-117_-113del (n.-117_-113del) | |
7 | g.44145723C>A | CA367399381 | GCK | c.*1025G>T (n.*1025G>T) c.*147G>T (n.*147G>T) n.253G>T c.61G>T (p.Gly21Cys) c.1030G>T (p.Gly344Cys) c.1027G>T (p.Gly343Cys) c.1090G>T (p.Gly364Cys) n.39G>T c.79G>T (p.Gly27Cys) c.1024G>T (p.Gly342Cys) c.976G>T (p.Gly326Cys) n.407G>T n.325G>T c.16G>T (p.Gly6Cys) c.-114G>T (n.-114G>T) | dbSNP |
7 | g.44145723C= | CA1703612970 | GCK | c.*1025G= (n.*1025G=) c.*147G= (n.*147G=) n.253G= c.61G= (p.Gly21=) c.1030G= (p.Gly344=) c.1027G= (p.Gly343=) c.1090G= (p.Gly364=) n.39G= c.79G= (p.Gly27=) c.1024G= (p.Gly342=) c.976G= (p.Gly326=) n.407G= n.325G= c.16G= (p.Gly6=) c.-114G= (n.-114G=) | |
7 | g.44145723C>G | CA367399384 | GCK | c.*1025G>C (n.*1025G>C) c.*147G>C (n.*147G>C) n.253G>C c.61G>C (p.Gly21Arg) c.1030G>C (p.Gly344Arg) c.1027G>C (p.Gly343Arg) c.1090G>C (p.Gly364Arg) n.39G>C c.79G>C (p.Gly27Arg) c.1024G>C (p.Gly342Arg) c.976G>C (p.Gly326Arg) n.407G>C n.325G>C c.16G>C (p.Gly6Arg) c.-114G>C (n.-114G>C) | gnomAD v4 |
7 | g.44145723C>T | CA367399387 | GCK | c.*1025G>A (n.*1025G>A) c.*147G>A (n.*147G>A) n.253G>A c.61G>A (p.Gly21Ser) c.1030G>A (p.Gly344Ser) c.1027G>A (p.Gly343Ser) c.1090G>A (p.Gly364Ser) n.39G>A c.79G>A (p.Gly27Ser) c.1024G>A (p.Gly342Ser) c.976G>A (p.Gly326Ser) n.407G>A n.325G>A c.16G>A (p.Gly6Ser) c.-114G>A (n.-114G>A) | gnomAD v4 |
7 | g.44145724C>A | CA454863127 | GCK | c.*1024G>T (n.*1024G>T) c.*146G>T (n.*146G>T) n.252G>T c.60G>T (p.Thr20=) c.1029G>T (p.Thr343=) c.1026G>T (p.Thr342=) c.1089G>T (p.Thr363=) n.38G>T c.78G>T (p.Thr26=) c.1023G>T (p.Thr341=) c.975G>T (p.Thr325=) n.406G>T n.324G>T c.15G>T (p.Thr5=) c.-115G>T (n.-115G>T) | gnomAD v4 |
7 | g.44145724C= | CA1703612971 | GCK | c.*1024G= (n.*1024G=) c.*146G= (n.*146G=) n.252G= c.60G= (p.Thr20=) c.1029G= (p.Thr343=) c.1026G= (p.Thr342=) c.1089G= (p.Thr363=) n.38G= c.78G= (p.Thr26=) c.1023G= (p.Thr341=) c.975G= (p.Thr325=) n.406G= n.324G= c.15G= (p.Thr5=) c.-115G= (n.-115G=) | |
7 | g.44145724C>G | CA4239440 | GCK | c.*1024G>C (n.*1024G>C) c.*146G>C (n.*146G>C) n.252G>C c.60G>C (p.Thr20=) c.1029G>C (p.Thr343=) c.1026G>C (p.Thr342=) c.1089G>C (p.Thr363=) n.38G>C c.78G>C (p.Thr26=) c.1023G>C (p.Thr341=) c.975G>C (p.Thr325=) n.406G>C n.324G>C c.15G>C (p.Thr5=) c.-115G>C (n.-115G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.44145724C>T | CA454863128 | GCK | c.*1024G>A (n.*1024G>A) c.*146G>A (n.*146G>A) n.252G>A c.60G>A (p.Thr20=) c.1029G>A (p.Thr343=) c.1026G>A (p.Thr342=) c.1089G>A (p.Thr363=) n.38G>A c.78G>A (p.Thr26=) c.1023G>A (p.Thr341=) c.975G>A (p.Thr325=) n.406G>A n.324G>A c.15G>A (p.Thr5=) c.-115G>A (n.-115G>A) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145725G>A | CA367399388 | GCK | c.*1023C>T (n.*1023C>T) c.*145C>T (n.*145C>T) n.251C>T c.59C>T (p.Thr20Met) c.1028C>T (p.Thr343Met) c.1025C>T (p.Thr342Met) c.1088C>T (p.Thr363Met) n.37C>T c.77C>T (p.Thr26Met) c.1022C>T (p.Thr341Met) c.974C>T (p.Thr325Met) n.405C>T n.323C>T c.14C>T (p.Thr5Met) c.-116C>T (n.-116C>T) | gnomAD v4 |
7 | g.44145725G>C | CA4239441 | GCK | c.*1023C>G (n.*1023C>G) c.*145C>G (n.*145C>G) n.251C>G c.59C>G (p.Thr20Arg) c.1028C>G (p.Thr343Arg) c.1025C>G (p.Thr342Arg) c.1088C>G (p.Thr363Arg) n.37C>G c.77C>G (p.Thr26Arg) c.1022C>G (p.Thr341Arg) c.974C>G (p.Thr325Arg) n.405C>G n.323C>G c.14C>G (p.Thr5Arg) c.-116C>G (n.-116C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44145725G= | CA1703612972 | GCK | c.*1023C= (n.*1023C=) c.*145C= (n.*145C=) n.251C= c.59C= (p.Thr20=) c.1028C= (p.Thr343=) c.1025C= (p.Thr342=) c.1088C= (p.Thr363=) n.37C= c.77C= (p.Thr26=) c.1022C= (p.Thr341=) c.974C= (p.Thr325=) n.405C= n.323C= c.14C= (p.Thr5=) c.-116C= (n.-116C=) | |
7 | g.44145725G>T | CA367399395 | GCK | c.*1023C>A (n.*1023C>A) c.*145C>A (n.*145C>A) n.251C>A c.59C>A (p.Thr20Lys) c.1028C>A (p.Thr343Lys) c.1025C>A (p.Thr342Lys) c.1088C>A (p.Thr363Lys) n.37C>A c.77C>A (p.Thr26Lys) c.1022C>A (p.Thr341Lys) c.974C>A (p.Thr325Lys) n.405C>A n.323C>A c.14C>A (p.Thr5Lys) c.-116C>A (n.-116C>A) | gnomAD v4 |
7 | g.44145733_44145771del | CA2580077164 | GCK | c.*1018-33_*1023del c.*140-33_*145del n.246-33_251del c.54-33_59del c.1023-33_1028del c.1020-33_1025del c.1083-33_1088del n.32-33_37del c.72-33_77del c.1017-33_1022del c.969-33_974del n.367_405del n.318-33_323del c.9-33_14del c.-121-33_-116del | ClinVar |
7 | g.44145726T>A | CA367399401 | GCK | c.*1022A>T (n.*1022A>T) c.*144A>T (n.*144A>T) n.250A>T c.58A>T (p.Thr20Ser) c.1027A>T (p.Thr343Ser) c.1024A>T (p.Thr342Ser) c.1087A>T (p.Thr363Ser) n.36A>T c.76A>T (p.Thr26Ser) c.1021A>T (p.Thr341Ser) c.973A>T (p.Thr325Ser) n.404A>T n.322A>T c.13A>T (p.Thr5Ser) c.-117A>T (n.-117A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44145726T>C | CA367399399 | GCK | c.*1022A>G (n.*1022A>G) c.*144A>G (n.*144A>G) n.250A>G c.58A>G (p.Thr20Ala) c.1027A>G (p.Thr343Ala) c.1024A>G (p.Thr342Ala) c.1087A>G (p.Thr363Ala) n.36A>G c.76A>G (p.Thr26Ala) c.1021A>G (p.Thr341Ala) c.973A>G (p.Thr325Ala) n.404A>G n.322A>G c.13A>G (p.Thr5Ala) c.-117A>G (n.-117A>G) | |
7 | g.44145726T>G | CA157913750 | GCK | c.*1022A>C (n.*1022A>C) c.*144A>C (n.*144A>C) n.250A>C c.58A>C (p.Thr20Pro) c.1027A>C (p.Thr343Pro) c.1024A>C (p.Thr342Pro) c.1087A>C (p.Thr363Pro) n.36A>C c.76A>C (p.Thr26Pro) c.1021A>C (p.Thr341Pro) c.973A>C (p.Thr325Pro) n.404A>C n.322A>C c.13A>C (p.Thr5Pro) c.-117A>C (n.-117A>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44145726T= | CA1703612973 | GCK | c.*1022A= (n.*1022A=) c.*144A= (n.*144A=) n.250A= c.58A= (p.Thr20=) c.1027A= (p.Thr343=) c.1024A= (p.Thr342=) c.1087A= (p.Thr363=) n.36A= c.76A= (p.Thr26=) c.1021A= (p.Thr341=) c.973A= (p.Thr325=) n.404A= n.322A= c.13A= (p.Thr5=) c.-117A= (n.-117A=) | |
7 | g.44145727G>A | CA454863129 | GCK | c.*1021C>T (n.*1021C>T) c.*143C>T (n.*143C>T) n.249C>T c.57C>T (p.Asp19=) c.1026C>T (p.Asp342=) c.1023C>T (p.Asp341=) c.1086C>T (p.Asp362=) n.35C>T c.75C>T (p.Asp25=) c.1020C>T (p.Asp340=) c.972C>T (p.Asp324=) n.403C>T n.321C>T c.12C>T (p.Asp4=) c.-118C>T (n.-118C>T) | |
7 | g.44145727G>C | CA367399404 | GCK | c.*1021C>G (n.*1021C>G) c.*143C>G (n.*143C>G) n.249C>G c.57C>G (p.Asp19Glu) c.1026C>G (p.Asp342Glu) c.1023C>G (p.Asp341Glu) c.1086C>G (p.Asp362Glu) n.35C>G c.75C>G (p.Asp25Glu) c.1020C>G (p.Asp340Glu) c.972C>G (p.Asp324Glu) n.403C>G n.321C>G c.12C>G (p.Asp4Glu) c.-118C>G (n.-118C>G) | |
7 | g.44145727G>T | CA367399407 | GCK | c.*1021C>A (n.*1021C>A) c.*143C>A (n.*143C>A) n.249C>A c.57C>A (p.Asp19Glu) c.1026C>A (p.Asp342Glu) c.1023C>A (p.Asp341Glu) c.1086C>A (p.Asp362Glu) n.35C>A c.75C>A (p.Asp25Glu) c.1020C>A (p.Asp340Glu) c.972C>A (p.Asp324Glu) n.403C>A n.321C>A c.12C>A (p.Asp4Glu) c.-118C>A (n.-118C>A) | gnomAD v4 |
7 | g.44145734_44145762del | CA2580612103 | GCK | c.*1018-25_*1021del c.*140-25_*143del n.246-25_249del c.54-25_57del c.1023-25_1026del c.1020-25_1023del c.1083-25_1086del n.32-25_35del c.72-25_75del c.1017-25_1020del c.969-25_972del n.375_403del n.318-25_321del c.9-25_12del c.-121-25_-118del | |
7 | g.44145728T>A | CA367399409 | GCK | c.*1020A>T (n.*1020A>T) c.*142A>T (n.*142A>T) n.248A>T c.56A>T (p.Asp19Val) c.1025A>T (p.Asp342Val) c.1022A>T (p.Asp341Val) c.1085A>T (p.Asp362Val) n.34A>T c.74A>T (p.Asp25Val) c.1019A>T (p.Asp340Val) c.971A>T (p.Asp324Val) n.402A>T n.320A>T c.11A>T (p.Asp4Val) c.-119A>T (n.-119A>T) | |
7 | g.44145728T>C | CA367399412 | GCK | c.*1020A>G (n.*1020A>G) c.*142A>G (n.*142A>G) n.248A>G c.56A>G (p.Asp19Gly) c.1025A>G (p.Asp342Gly) c.1022A>G (p.Asp341Gly) c.1085A>G (p.Asp362Gly) n.34A>G c.74A>G (p.Asp25Gly) c.1019A>G (p.Asp340Gly) c.971A>G (p.Asp324Gly) n.402A>G n.320A>G c.11A>G (p.Asp4Gly) c.-119A>G (n.-119A>G) | |
7 | g.44145728T>G | CA367399413 | GCK | c.*1020A>C (n.*1020A>C) c.*142A>C (n.*142A>C) n.248A>C c.56A>C (p.Asp19Ala) c.1025A>C (p.Asp342Ala) c.1022A>C (p.Asp341Ala) c.1085A>C (p.Asp362Ala) n.34A>C c.74A>C (p.Asp25Ala) c.1019A>C (p.Asp340Ala) c.971A>C (p.Asp324Ala) n.402A>C n.320A>C c.11A>C (p.Asp4Ala) c.-119A>C (n.-119A>C) |