Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.44145009_44145176delinsA | CA2496602227 | GCK | c.*1356_*1523delinsT (n.*1356_*1523delinsT) c.*478_*645delinsT (n.*478_*645delinsT) n.584_751delinsT c.392_*127delinsT (n.[c.392_*127delinsT;Ser131LeufsTer25]) c.1361_*127delinsT (n.[c.1361_*127delinsT;Ser454LeufsTer25]) c.1358_*127delinsT (n.[c.1358_*127delinsT;Ser453LeufsTer25]) c.1421_*127delinsT (n.[c.1421_*127delinsT;Ser474LeufsTer25]) n.370_381+156delinsT c.1358_1369+156delinsT c.410_577delinsT (n.[c.410_577delinsT;Ser137LeufsTer25]) c.1355_*127delinsT (n.[c.1355_*127delinsT;Ser452LeufsTer25]) n.738_905delinsT c.1355_1522delinsT (n.[c.1355_1522delinsT;Ser452LeufsTer25]) c.347_*127delinsT (n.[c.347_*127delinsT;Ser116LeufsTer25]) c.218_229+156delinsT c.218_*127delinsT (n.[c.218_*127delinsT;Ser73LeufsTer25]) | ClinVar |
7 | g.44145132G>A | CA573796724 | GCK | c.*1400C>T (n.*1400C>T) c.*522C>T (n.*522C>T) n.628C>T c.*4C>T (n.*4C>T) n.381+33C>T c.1369+33C>T (n.1369+33C>T) c.454C>T (n.454C>T) n.782C>T c.1399C>T (n.1399C>T) c.229+33C>T (n.229+33C>T) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145132G= | CA1703612636 | GCK | c.*1400C= (n.*1400C=) c.*522C= (n.*522C=) n.628C= c.*4C= (n.*4C=) n.381+33C= c.1369+33C= (n.1369+33C=) c.454C= (n.454C=) n.782C= c.1399C= (n.1399C=) c.229+33C= (n.229+33C=) | |
7 | g.44145133C= | CA1703612637 | GCK | c.*1399G= (n.*1399G=) c.*521G= (n.*521G=) n.627G= c.*3G= (n.*3G=) n.381+32G= c.1369+32G= (n.1369+32G=) c.453G= (n.453G=) n.781G= c.1398G= (n.1398G=) c.229+32G= (n.229+32G=) | |
7 | g.44145133C>G | CA2682580213 | GCK | c.*1399G>C (n.*1399G>C) c.*521G>C (n.*521G>C) n.627G>C c.*3G>C (n.*3G>C) n.381+32G>C c.1369+32G>C (n.1369+32G>C) c.453G>C (n.453G>C) n.781G>C c.1398G>C (n.1398G>C) c.229+32G>C (n.229+32G>C) | gnomAD v4 |
7 | g.44145133C>T | CA573796725 | GCK | c.*1399G>A (n.*1399G>A) c.*521G>A (n.*521G>A) n.627G>A c.*3G>A (n.*3G>A) n.381+32G>A c.1369+32G>A (n.1369+32G>A) c.453G>A (n.453G>A) n.781G>A c.1398G>A (n.1398G>A) c.229+32G>A (n.229+32G>A) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145134T>C | CA2682580219 | GCK | c.*1398A>G (n.*1398A>G) c.*520A>G (n.*520A>G) n.626A>G c.*2A>G (n.*2A>G) n.381+31A>G c.1369+31A>G (n.1369+31A>G) c.452A>G (n.452A>G) n.780A>G c.1397A>G (n.1397A>G) c.229+31A>G (n.229+31A>G) | gnomAD v4 |
7 | g.44145134_44145155del | CA2497028747 | GCK | c.*1377_*1398del (n.*1377_*1398del) c.*499_*520del (n.*499_*520del) n.605_626del c.413_*2del (n.[c.413_*2del;Ala138GlyfsTer?]) c.1382_*2del (n.[c.1382_*2del;Ala461GlyfsTer?]) c.1379_*2del (n.[c.1379_*2del;Ala460GlyfsTer?]) c.1442_*2del (n.[c.1442_*2del;Ala481GlyfsTer?]) n.381+10_381+31del c.1369+10_1369+31del (n.1369+10_1369+31del) c.431_452del (n.[c.431_452del;Ala144GlyfsTer?]) c.1376_*2del (n.[c.1376_*2del;Ala459GlyfsTer?]) c.1328_*2del (n.[c.1328_*2del;Ala443GlyfsTer?]) n.759_780del c.1376_1397del (n.[c.1376_1397del;Ala459GlyfsTer?]) c.368_*2del (n.[c.368_*2del;Ala123GlyfsTer?]) c.229+10_229+31del (n.229+10_229+31del) c.239_*2del (n.[c.239_*2del;Ala80GlyfsTer?]) | ClinVar |
7 | g.44145135C= | CA1703612638 | GCK | c.*1397G= (n.*1397G=) c.*519G= (n.*519G=) n.625G= c.*1G= (n.*1G=) n.381+30G= c.1369+30G= (n.1369+30G=) c.451G= (n.451G=) n.779G= c.1396G= (n.1396G=) c.229+30G= (n.229+30G=) | |
7 | g.44145135C>G | CA2682580223 | GCK | c.*1397G>C (n.*1397G>C) c.*519G>C (n.*519G>C) n.625G>C c.*1G>C (n.*1G>C) n.381+30G>C c.1369+30G>C (n.1369+30G>C) c.451G>C (n.451G>C) n.779G>C c.1396G>C (n.1396G>C) c.229+30G>C (n.229+30G>C) | gnomAD v4 |
7 | g.44145135C>T | CA838788684 | GCK | c.*1397G>A (n.*1397G>A) c.*519G>A (n.*519G>A) n.625G>A c.*1G>A (n.*1G>A) n.381+30G>A c.1369+30G>A (n.1369+30G>A) c.451G>A (n.451G>A) n.779G>A c.1396G>A (n.1396G>A) c.229+30G>A (n.229+30G>A) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.44145136T>A | CA367396714 | GCK | c.*1396A>T (n.*1396A>T) c.*518A>T (n.*518A>T) n.624A>T c.432A>T (p.Ter144Cys) c.1401A>T (p.Ter467Cys) c.1398A>T (p.Ter466Cys) c.1461A>T (p.Ter487Cys) n.381+29A>T c.1369+29A>T (n.1369+29A>T) c.450A>T (p.Ter150Cys) c.1395A>T (p.Ter465Cys) c.1347A>T (p.Ter449Cys) n.778A>T c.387A>T (p.Ter129Cys) c.229+29A>T (n.229+29A>T) c.258A>T (p.Ter86Cys) | ClinVar |
7 | g.44145136T>C | CA367396716 | GCK | c.*1396A>G (n.*1396A>G) c.*518A>G (n.*518A>G) n.624A>G c.432A>G (p.Ter144Trp) c.1401A>G (p.Ter467Trp) c.1398A>G (p.Ter466Trp) c.1461A>G (p.Ter487Trp) n.381+29A>G c.1369+29A>G (n.1369+29A>G) c.450A>G (p.Ter150Trp) c.1395A>G (p.Ter465Trp) c.1347A>G (p.Ter449Trp) n.778A>G c.387A>G (p.Ter129Trp) c.229+29A>G (n.229+29A>G) c.258A>G (p.Ter86Trp) | ClinVar |
7 | g.44145136T>G | CA367396717 | GCK | c.*1396A>C (n.*1396A>C) c.*518A>C (n.*518A>C) n.624A>C c.432A>C (p.Ter144Cys) c.1401A>C (p.Ter467Cys) c.1398A>C (p.Ter466Cys) c.1461A>C (p.Ter487Cys) n.381+29A>C c.1369+29A>C (n.1369+29A>C) c.450A>C (p.Ter150Cys) c.1395A>C (p.Ter465Cys) c.1347A>C (p.Ter449Cys) n.778A>C c.387A>C (p.Ter129Cys) c.229+29A>C (n.229+29A>C) c.258A>C (p.Ter86Cys) | |
7 | g.44145137C>A | CA367396718 | GCK | c.*1395G>T (n.*1395G>T) c.*517G>T (n.*517G>T) n.623G>T c.431G>T (p.Ter144Leu) c.1400G>T (p.Ter467Leu) c.1397G>T (p.Ter466Leu) c.1460G>T (p.Ter487Leu) n.381+28G>T c.1369+28G>T (n.1369+28G>T) c.449G>T (p.Ter150Leu) c.1394G>T (p.Ter465Leu) c.1346G>T (p.Ter449Leu) n.777G>T c.386G>T (p.Ter129Leu) c.229+28G>T (n.229+28G>T) c.257G>T (p.Ter86Leu) | gnomAD v4 |
7 | g.44145137C>G | CA367396719 | GCK | c.*1395G>C (n.*1395G>C) c.*517G>C (n.*517G>C) n.623G>C c.431G>C (p.Ter144Ser) c.1400G>C (p.Ter467Ser) c.1397G>C (p.Ter466Ser) c.1460G>C (p.Ter487Ser) n.381+28G>C c.1369+28G>C (n.1369+28G>C) c.449G>C (p.Ter150Ser) c.1394G>C (p.Ter465Ser) c.1346G>C (p.Ter449Ser) n.777G>C c.386G>C (p.Ter129Ser) c.229+28G>C (n.229+28G>C) c.257G>C (p.Ter86Ser) | |
7 | g.44145137C>T | CA454606325 | GCK | c.*1395G>A (n.*1395G>A) c.*517G>A (n.*517G>A) n.623G>A c.431G>A (p.Ter144=) c.1400G>A (p.Ter467=) c.1397G>A (p.Ter466=) c.1460G>A (p.Ter487=) n.381+28G>A c.1369+28G>A (n.1369+28G>A) c.449G>A (p.Ter150=) c.1394G>A (p.Ter465=) c.1346G>A (p.Ter449=) n.777G>A c.386G>A (p.Ter129=) c.229+28G>A (n.229+28G>A) c.257G>A (p.Ter86=) | |
7 | g.44145138A>C | CA367396720 | GCK | c.*1394T>G (n.*1394T>G) c.*516T>G (n.*516T>G) n.622T>G c.430T>G (p.Ter144Gly) c.1399T>G (p.Ter467Gly) c.1396T>G (p.Ter466Gly) c.1459T>G (p.Ter487Gly) n.381+27T>G c.1369+27T>G (n.1369+27T>G) c.448T>G (p.Ter150Gly) c.1393T>G (p.Ter465Gly) c.1345T>G (p.Ter449Gly) n.776T>G c.385T>G (p.Ter129Gly) c.229+27T>G (n.229+27T>G) c.256T>G (p.Ter86Gly) | |
7 | g.44145138A>G | CA367396721 | GCK | c.*1394T>C (n.*1394T>C) c.*516T>C (n.*516T>C) n.622T>C c.430T>C (p.Ter144Arg) c.1399T>C (p.Ter467Arg) c.1396T>C (p.Ter466Arg) c.1459T>C (p.Ter487Arg) n.381+27T>C c.1369+27T>C (n.1369+27T>C) c.448T>C (p.Ter150Arg) c.1393T>C (p.Ter465Arg) c.1345T>C (p.Ter449Arg) n.776T>C c.385T>C (p.Ter129Arg) c.229+27T>C (n.229+27T>C) c.256T>C (p.Ter86Arg) | ClinVar |
7 | g.44145138A>T | CA367396723 | GCK | c.*1394T>A (n.*1394T>A) c.*516T>A (n.*516T>A) n.622T>A c.430T>A (p.Ter144Arg) c.1399T>A (p.Ter467Arg) c.1396T>A (p.Ter466Arg) c.1459T>A (p.Ter487Arg) n.381+27T>A c.1369+27T>A (n.1369+27T>A) c.448T>A (p.Ter150Arg) c.1393T>A (p.Ter465Arg) c.1345T>A (p.Ter449Arg) n.776T>A c.385T>A (p.Ter129Arg) c.229+27T>A (n.229+27T>A) c.256T>A (p.Ter86Arg) | |
7 | g.44145139C>A | CA367396725 | GCK | c.*1393G>T (n.*1393G>T) c.*515G>T (n.*515G>T) n.621G>T c.429G>T (p.Gln143His) c.1398G>T (p.Gln466His) c.1395G>T (p.Gln465His) c.1458G>T (p.Gln486His) n.381+26G>T c.1369+26G>T (n.1369+26G>T) c.447G>T (p.Gln149His) c.1392G>T (p.Gln464His) c.1344G>T (p.Gln448His) n.775G>T c.384G>T (p.Gln128His) c.229+26G>T (n.229+26G>T) c.255G>T (p.Gln85His) | |
7 | g.44145139C>G | CA367396727 | GCK | c.*1393G>C (n.*1393G>C) c.*515G>C (n.*515G>C) n.621G>C c.429G>C (p.Gln143His) c.1398G>C (p.Gln466His) c.1395G>C (p.Gln465His) c.1458G>C (p.Gln486His) n.381+26G>C c.1369+26G>C (n.1369+26G>C) c.447G>C (p.Gln149His) c.1392G>C (p.Gln464His) c.1344G>C (p.Gln448His) n.775G>C c.384G>C (p.Gln128His) c.229+26G>C (n.229+26G>C) c.255G>C (p.Gln85His) | |
7 | g.44145139C>T | CA454606326 | GCK | c.*1393G>A (n.*1393G>A) c.*515G>A (n.*515G>A) n.621G>A c.429G>A (p.Gln143=) c.1398G>A (p.Gln466=) c.1395G>A (p.Gln465=) c.1458G>A (p.Gln486=) n.381+26G>A c.1369+26G>A (n.1369+26G>A) c.447G>A (p.Gln149=) c.1392G>A (p.Gln464=) c.1344G>A (p.Gln448=) n.775G>A c.384G>A (p.Gln128=) c.229+26G>A (n.229+26G>A) c.255G>A (p.Gln85=) | gnomAD v4 |
7 | g.44145140T>A | CA367396728 | GCK | c.*1392A>T (n.*1392A>T) c.*514A>T (n.*514A>T) n.620A>T c.428A>T (p.Gln143Leu) c.1397A>T (p.Gln466Leu) c.1394A>T (p.Gln465Leu) c.1457A>T (p.Gln486Leu) n.381+25A>T c.1369+25A>T (n.1369+25A>T) c.446A>T (p.Gln149Leu) c.1391A>T (p.Gln464Leu) c.1343A>T (p.Gln448Leu) n.774A>T c.383A>T (p.Gln128Leu) c.229+25A>T (n.229+25A>T) c.254A>T (p.Gln85Leu) | |
7 | g.44145140T>C | CA367396732 | GCK | c.*1392A>G (n.*1392A>G) c.*514A>G (n.*514A>G) n.620A>G c.428A>G (p.Gln143Arg) c.1397A>G (p.Gln466Arg) c.1394A>G (p.Gln465Arg) c.1457A>G (p.Gln486Arg) n.381+25A>G c.1369+25A>G (n.1369+25A>G) c.446A>G (p.Gln149Arg) c.1391A>G (p.Gln464Arg) c.1343A>G (p.Gln448Arg) n.774A>G c.383A>G (p.Gln128Arg) c.229+25A>G (n.229+25A>G) c.254A>G (p.Gln85Arg) | |
7 | g.44145140T>G | CA367396730 | GCK | c.*1392A>C (n.*1392A>C) c.*514A>C (n.*514A>C) n.620A>C c.428A>C (p.Gln143Pro) c.1397A>C (p.Gln466Pro) c.1394A>C (p.Gln465Pro) c.1457A>C (p.Gln486Pro) n.381+25A>C c.1369+25A>C (n.1369+25A>C) c.446A>C (p.Gln149Pro) c.1391A>C (p.Gln464Pro) c.1343A>C (p.Gln448Pro) n.774A>C c.383A>C (p.Gln128Pro) c.229+25A>C (n.229+25A>C) c.254A>C (p.Gln85Pro) | |
7 | g.44145141G>A | CA367396734 | GCK | c.*1391C>T (n.*1391C>T) c.*513C>T (n.*513C>T) n.619C>T c.427C>T (p.Gln143Ter) c.1396C>T (p.Gln466Ter) c.1393C>T (p.Gln465Ter) c.1456C>T (p.Gln486Ter) n.381+24C>T c.1369+24C>T (n.1369+24C>T) c.445C>T (p.Gln149Ter) c.1390C>T (p.Gln464Ter) c.1342C>T (p.Gln448Ter) n.773C>T c.382C>T (p.Gln128Ter) c.229+24C>T (n.229+24C>T) c.253C>T (p.Gln85Ter) | |
7 | g.44145141G>C | CA367396735 | GCK | c.*1391C>G (n.*1391C>G) c.*513C>G (n.*513C>G) n.619C>G c.427C>G (p.Gln143Glu) c.1396C>G (p.Gln466Glu) c.1393C>G (p.Gln465Glu) c.1456C>G (p.Gln486Glu) n.381+24C>G c.1369+24C>G (n.1369+24C>G) c.445C>G (p.Gln149Glu) c.1390C>G (p.Gln464Glu) c.1342C>G (p.Gln448Glu) n.773C>G c.382C>G (p.Gln128Glu) c.229+24C>G (n.229+24C>G) c.253C>G (p.Gln85Glu) | |
7 | g.44145141G>T | CA367396736 | GCK | c.*1391C>A (n.*1391C>A) c.*513C>A (n.*513C>A) n.619C>A c.427C>A (p.Gln143Lys) c.1396C>A (p.Gln466Lys) c.1393C>A (p.Gln465Lys) c.1456C>A (p.Gln486Lys) n.381+24C>A c.1369+24C>A (n.1369+24C>A) c.445C>A (p.Gln149Lys) c.1390C>A (p.Gln464Lys) c.1342C>A (p.Gln448Lys) n.773C>A c.382C>A (p.Gln128Lys) c.229+24C>A (n.229+24C>A) c.253C>A (p.Gln85Lys) | |
7 | g.44145142G>A | CA454606327 | GCK | c.*1390C>T (n.*1390C>T) c.*512C>T (n.*512C>T) n.618C>T c.426C>T (p.Gly142=) c.1395C>T (p.Gly465=) c.1392C>T (p.Gly464=) c.1455C>T (p.Gly485=) n.381+23C>T c.1369+23C>T (n.1369+23C>T) c.444C>T (p.Gly148=) c.1389C>T (p.Gly463=) c.1341C>T (p.Gly447=) n.772C>T c.381C>T (p.Gly127=) c.229+23C>T (n.229+23C>T) c.252C>T (p.Gly84=) | gnomAD v4 |
7 | g.44145142G>C | CA454606328 | GCK | c.*1390C>G (n.*1390C>G) c.*512C>G (n.*512C>G) n.618C>G c.426C>G (p.Gly142=) c.1395C>G (p.Gly465=) c.1392C>G (p.Gly464=) c.1455C>G (p.Gly485=) n.381+23C>G c.1369+23C>G (n.1369+23C>G) c.444C>G (p.Gly148=) c.1389C>G (p.Gly463=) c.1341C>G (p.Gly447=) n.772C>G c.381C>G (p.Gly127=) c.229+23C>G (n.229+23C>G) c.252C>G (p.Gly84=) | |
7 | g.44145142G>T | CA454606329 | GCK | c.*1390C>A (n.*1390C>A) c.*512C>A (n.*512C>A) n.618C>A c.426C>A (p.Gly142=) c.1395C>A (p.Gly465=) c.1392C>A (p.Gly464=) c.1455C>A (p.Gly485=) n.381+23C>A c.1369+23C>A (n.1369+23C>A) c.444C>A (p.Gly148=) c.1389C>A (p.Gly463=) c.1341C>A (p.Gly447=) n.772C>A c.381C>A (p.Gly127=) c.229+23C>A (n.229+23C>A) c.252C>A (p.Gly84=) | gnomAD v4 |
7 | g.44145142_44145143del | CA2573102977 | GCK | c.*1389_*1390del (n.*1389_*1390del) c.*511_*512del (n.*511_*512del) n.617_618del c.425_426del (p.Gly142AlafsTer?) c.1394_1395del (p.Gly465AlafsTer?) c.1391_1392del (p.Gly464AlafsTer?) c.1454_1455del (p.Gly485AlafsTer?) n.381+22_381+23del c.1369+22_1369+23del (n.1369+22_1369+23del) c.443_444del (p.Gly148AlafsTer?) c.1388_1389del (p.Gly463AlafsTer?) c.1340_1341del (p.Gly447AlafsTer?) n.771_772del c.380_381del (p.Gly127AlafsTer?) c.229+22_229+23del (n.229+22_229+23del) c.251_252del (p.Gly84AlafsTer?) | ClinVar |
7 | g.44145143C>A | CA367396737 | GCK | c.*1389G>T (n.*1389G>T) c.*511G>T (n.*511G>T) n.617G>T c.425G>T (p.Gly142Val) c.1394G>T (p.Gly465Val) c.1391G>T (p.Gly464Val) c.1454G>T (p.Gly485Val) n.381+22G>T c.1369+22G>T (n.1369+22G>T) c.443G>T (p.Gly148Val) c.1388G>T (p.Gly463Val) c.1340G>T (p.Gly447Val) n.771G>T c.380G>T (p.Gly127Val) c.229+22G>T (n.229+22G>T) c.251G>T (p.Gly84Val) | |
7 | g.44145143C= | CA1703612639 | GCK | c.*1389G= (n.*1389G=) c.*511G= (n.*511G=) n.617G= c.425G= (p.Gly142=) c.1394G= (p.Gly465=) c.1391G= (p.Gly464=) c.1454G= (p.Gly485=) n.381+22G= c.1369+22G= (n.1369+22G=) c.443G= (p.Gly148=) c.1388G= (p.Gly463=) c.1340G= (p.Gly447=) n.771G= c.380G= (p.Gly127=) c.229+22G= (n.229+22G=) c.251G= (p.Gly84=) | |
7 | g.44145143C>G | CA367396738 | GCK | c.*1389G>C (n.*1389G>C) c.*511G>C (n.*511G>C) n.617G>C c.425G>C (p.Gly142Ala) c.1394G>C (p.Gly465Ala) c.1391G>C (p.Gly464Ala) c.1454G>C (p.Gly485Ala) n.381+22G>C c.1369+22G>C (n.1369+22G>C) c.443G>C (p.Gly148Ala) c.1388G>C (p.Gly463Ala) c.1340G>C (p.Gly447Ala) n.771G>C c.380G>C (p.Gly127Ala) c.229+22G>C (n.229+22G>C) c.251G>C (p.Gly84Ala) | |
7 | g.44145143C>T | CA4239370 | GCK | c.*1389G>A (n.*1389G>A) c.*511G>A (n.*511G>A) n.617G>A c.425G>A (p.Gly142Asp) c.1394G>A (p.Gly465Asp) c.1391G>A (p.Gly464Asp) c.1454G>A (p.Gly485Asp) n.381+22G>A c.1369+22G>A (n.1369+22G>A) c.443G>A (p.Gly148Asp) c.1388G>A (p.Gly463Asp) c.1340G>A (p.Gly447Asp) n.771G>A c.380G>A (p.Gly127Asp) c.229+22G>A (n.229+22G>A) c.251G>A (p.Gly84Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.44145145del | CA2573102976 | GCK | c.*1389del (n.*1389del) c.*511del (n.*511del) n.617del c.425del (p.Gly142AlafsTer?) c.1394del (p.Gly465AlafsTer?) c.1391del (p.Gly464AlafsTer?) c.1454del (p.Gly485AlafsTer?) n.381+22del c.1369+22del (n.1369+22del) c.443del (p.Gly148AlafsTer?) c.1388del (p.Gly463AlafsTer?) c.1340del (p.Gly447AlafsTer?) n.771del c.380del (p.Gly127AlafsTer?) c.229+22del (n.229+22del) c.251del (p.Gly84AlafsTer?) | ClinVar gnomAD v4 |
7 | g.44145144C>A | CA367396740 | GCK | c.*1388G>T (n.*1388G>T) c.*510G>T (n.*510G>T) n.616G>T c.424G>T (p.Gly142Cys) c.1393G>T (p.Gly465Cys) c.1390G>T (p.Gly464Cys) c.1453G>T (p.Gly485Cys) n.381+21G>T c.1369+21G>T (n.1369+21G>T) c.442G>T (p.Gly148Cys) c.1387G>T (p.Gly463Cys) c.1339G>T (p.Gly447Cys) n.770G>T c.379G>T (p.Gly127Cys) c.229+21G>T (n.229+21G>T) c.250G>T (p.Gly84Cys) | |
7 | g.44145144C>G | CA367396742 | GCK | c.*1388G>C (n.*1388G>C) c.*510G>C (n.*510G>C) n.616G>C c.424G>C (p.Gly142Arg) c.1393G>C (p.Gly465Arg) c.1390G>C (p.Gly464Arg) c.1453G>C (p.Gly485Arg) n.381+21G>C c.1369+21G>C (n.1369+21G>C) c.442G>C (p.Gly148Arg) c.1387G>C (p.Gly463Arg) c.1339G>C (p.Gly447Arg) n.770G>C c.379G>C (p.Gly127Arg) c.229+21G>C (n.229+21G>C) c.250G>C (p.Gly84Arg) | |
7 | g.44145144C>T | CA367396744 | GCK | c.*1388G>A (n.*1388G>A) c.*510G>A (n.*510G>A) n.616G>A c.424G>A (p.Gly142Ser) c.1393G>A (p.Gly465Ser) c.1390G>A (p.Gly464Ser) c.1453G>A (p.Gly485Ser) n.381+21G>A c.1369+21G>A (n.1369+21G>A) c.442G>A (p.Gly148Ser) c.1387G>A (p.Gly463Ser) c.1339G>A (p.Gly447Ser) n.770G>A c.379G>A (p.Gly127Ser) c.229+21G>A (n.229+21G>A) c.250G>A (p.Gly84Ser) | |
7 | g.44145145C>A | CA454606330 | GCK | c.*1387G>T (n.*1387G>T) c.*509G>T (n.*509G>T) n.615G>T c.423G>T (p.Leu141=) c.1392G>T (p.Leu464=) c.1389G>T (p.Leu463=) c.1452G>T (p.Leu484=) n.381+20G>T c.1369+20G>T (n.1369+20G>T) c.441G>T (p.Leu147=) c.1386G>T (p.Leu462=) c.1338G>T (p.Leu446=) n.769G>T c.378G>T (p.Leu126=) c.229+20G>T (n.229+20G>T) c.249G>T (p.Leu83=) | |
7 | g.44145145C= | CA1703612640 | GCK | c.*1387G= (n.*1387G=) c.*509G= (n.*509G=) n.615G= c.423G= (p.Leu141=) c.1392G= (p.Leu464=) c.1389G= (p.Leu463=) c.1452G= (p.Leu484=) n.381+20G= c.1369+20G= (n.1369+20G=) c.441G= (p.Leu147=) c.1386G= (p.Leu462=) c.1338G= (p.Leu446=) n.769G= c.378G= (p.Leu126=) c.229+20G= (n.229+20G=) c.249G= (p.Leu83=) | |
7 | g.44145145C>G | CA454606331 | GCK | c.*1387G>C (n.*1387G>C) c.*509G>C (n.*509G>C) n.615G>C c.423G>C (p.Leu141=) c.1392G>C (p.Leu464=) c.1389G>C (p.Leu463=) c.1452G>C (p.Leu484=) n.381+20G>C c.1369+20G>C (n.1369+20G>C) c.441G>C (p.Leu147=) c.1386G>C (p.Leu462=) c.1338G>C (p.Leu446=) n.769G>C c.378G>C (p.Leu126=) c.229+20G>C (n.229+20G>C) c.249G>C (p.Leu83=) | |
7 | g.44145145C>T | CA454606332 | GCK | c.*1387G>A (n.*1387G>A) c.*509G>A (n.*509G>A) n.615G>A c.423G>A (p.Leu141=) c.1392G>A (p.Leu464=) c.1389G>A (p.Leu463=) c.1452G>A (p.Leu484=) n.381+20G>A c.1369+20G>A (n.1369+20G>A) c.441G>A (p.Leu147=) c.1386G>A (p.Leu462=) c.1338G>A (p.Leu446=) n.769G>A c.378G>A (p.Leu126=) c.229+20G>A (n.229+20G>A) c.249G>A (p.Leu83=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.44145146A>C | CA367396746 | GCK | c.*1386T>G (n.*1386T>G) c.*508T>G (n.*508T>G) n.614T>G c.422T>G (p.Leu141Arg) c.1391T>G (p.Leu464Arg) c.1388T>G (p.Leu463Arg) c.1451T>G (p.Leu484Arg) n.381+19T>G c.1369+19T>G (n.1369+19T>G) c.440T>G (p.Leu147Arg) c.1385T>G (p.Leu462Arg) c.1337T>G (p.Leu446Arg) n.768T>G c.377T>G (p.Leu126Arg) c.229+19T>G (n.229+19T>G) c.248T>G (p.Leu83Arg) | |
7 | g.44145146A>G | CA367396748 | GCK | c.*1386T>C (n.*1386T>C) c.*508T>C (n.*508T>C) n.614T>C c.422T>C (p.Leu141Pro) c.1391T>C (p.Leu464Pro) c.1388T>C (p.Leu463Pro) c.1451T>C (p.Leu484Pro) n.381+19T>C c.1369+19T>C (n.1369+19T>C) c.440T>C (p.Leu147Pro) c.1385T>C (p.Leu462Pro) c.1337T>C (p.Leu446Pro) n.768T>C c.377T>C (p.Leu126Pro) c.229+19T>C (n.229+19T>C) c.248T>C (p.Leu83Pro) | |
7 | g.44145146A>T | CA367396750 | GCK | c.*1386T>A (n.*1386T>A) c.*508T>A (n.*508T>A) n.614T>A c.422T>A (p.Leu141Gln) c.1391T>A (p.Leu464Gln) c.1388T>A (p.Leu463Gln) c.1451T>A (p.Leu484Gln) n.381+19T>A c.1369+19T>A (n.1369+19T>A) c.440T>A (p.Leu147Gln) c.1385T>A (p.Leu462Gln) c.1337T>A (p.Leu446Gln) n.768T>A c.377T>A (p.Leu126Gln) c.229+19T>A (n.229+19T>A) c.248T>A (p.Leu83Gln) | |
7 | g.44145147G>A | CA454606333 | GCK | c.*1385C>T (n.*1385C>T) c.*507C>T (n.*507C>T) n.613C>T c.421C>T (p.Leu141=) c.1390C>T (p.Leu464=) c.1387C>T (p.Leu463=) c.1450C>T (p.Leu484=) n.381+18C>T c.1369+18C>T (n.1369+18C>T) c.439C>T (p.Leu147=) c.1384C>T (p.Leu462=) c.1336C>T (p.Leu446=) n.767C>T c.376C>T (p.Leu126=) c.229+18C>T (n.229+18C>T) c.247C>T (p.Leu83=) | |
7 | g.44145147G>C | CA367396752 | GCK | c.*1385C>G (n.*1385C>G) c.*507C>G (n.*507C>G) n.613C>G c.421C>G (p.Leu141Val) c.1390C>G (p.Leu464Val) c.1387C>G (p.Leu463Val) c.1450C>G (p.Leu484Val) n.381+18C>G c.1369+18C>G (n.1369+18C>G) c.439C>G (p.Leu147Val) c.1384C>G (p.Leu462Val) c.1336C>G (p.Leu446Val) n.767C>G c.376C>G (p.Leu126Val) c.229+18C>G (n.229+18C>G) c.247C>G (p.Leu83Val) | |
7 | g.44145147G>T | CA367396753 | GCK | c.*1385C>A (n.*1385C>A) c.*507C>A (n.*507C>A) n.613C>A c.421C>A (p.Leu141Met) c.1390C>A (p.Leu464Met) c.1387C>A (p.Leu463Met) c.1450C>A (p.Leu484Met) n.381+18C>A c.1369+18C>A (n.1369+18C>A) c.439C>A (p.Leu147Met) c.1384C>A (p.Leu462Met) c.1336C>A (p.Leu446Met) n.767C>A c.376C>A (p.Leu126Met) c.229+18C>A (n.229+18C>A) c.247C>A (p.Leu83Met) | gnomAD v4 |
7 | g.44145148C>A | CA213763 | GCK | c.*1384G>T (n.*1384G>T) c.*506G>T (n.*506G>T) n.612G>T c.420G>T (p.Met140Ile) c.1389G>T (p.Met463Ile) c.1386G>T (p.Met462Ile) c.1449G>T (p.Met483Ile) n.381+17G>T c.1369+17G>T (n.1369+17G>T) c.438G>T (p.Met146Ile) c.1383G>T (p.Met461Ile) c.1335G>T (p.Met445Ile) n.766G>T c.375G>T (p.Met125Ile) c.229+17G>T (n.229+17G>T) c.246G>T (p.Met82Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44145148C= | CA1703612641 | GCK | c.*1384G= (n.*1384G=) c.*506G= (n.*506G=) n.612G= c.420G= (p.Met140=) c.1389G= (p.Met463=) c.1386G= (p.Met462=) c.1449G= (p.Met483=) n.381+17G= c.1369+17G= (n.1369+17G=) c.438G= (p.Met146=) c.1383G= (p.Met461=) c.1335G= (p.Met445=) n.766G= c.375G= (p.Met125=) c.229+17G= (n.229+17G=) c.246G= (p.Met82=) | |
7 | g.44145148C>G | CA367396755 | GCK | c.*1384G>C (n.*1384G>C) c.*506G>C (n.*506G>C) n.612G>C c.420G>C (p.Met140Ile) c.1389G>C (p.Met463Ile) c.1386G>C (p.Met462Ile) c.1449G>C (p.Met483Ile) n.381+17G>C c.1369+17G>C (n.1369+17G>C) c.438G>C (p.Met146Ile) c.1383G>C (p.Met461Ile) c.1335G>C (p.Met445Ile) n.766G>C c.375G>C (p.Met125Ile) c.229+17G>C (n.229+17G>C) c.246G>C (p.Met82Ile) | |
7 | g.44145148C>T | CA4239371 | GCK | c.*1384G>A (n.*1384G>A) c.*506G>A (n.*506G>A) n.612G>A c.420G>A (p.Met140Ile) c.1389G>A (p.Met463Ile) c.1386G>A (p.Met462Ile) c.1449G>A (p.Met483Ile) n.381+17G>A c.1369+17G>A (n.1369+17G>A) c.438G>A (p.Met146Ile) c.1383G>A (p.Met461Ile) c.1335G>A (p.Met445Ile) n.766G>A c.375G>A (p.Met125Ile) c.229+17G>A (n.229+17G>A) c.246G>A (p.Met82Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.44145150_44145153dup | CA2775231808 | GCK | c.*1381_*1384dup (n.*1381_*1384dup) c.*503_*506dup (n.*503_*506dup) n.609_612dup c.417_420dup (p.Leu141TyrfsTer?) c.1386_1389dup (p.Leu464TyrfsTer?) c.1383_1386dup (p.Leu463TyrfsTer?) c.1446_1449dup (p.Leu484TyrfsTer?) n.381+14_381+17dup c.1369+14_1369+17dup (n.1369+14_1369+17dup) c.435_438dup (p.Leu147TyrfsTer?) c.1380_1383dup (p.Leu462TyrfsTer?) c.1332_1335dup (p.Leu446TyrfsTer?) n.763_766dup c.372_375dup (p.Leu126TyrfsTer?) c.229+14_229+17dup (n.229+14_229+17dup) c.243_246dup (p.Leu83TyrfsTer?) | |
7 | g.44145149A>C | CA367396757 | GCK | c.*1383T>G (n.*1383T>G) c.*505T>G (n.*505T>G) n.611T>G c.419T>G (p.Met140Arg) c.1388T>G (p.Met463Arg) c.1385T>G (p.Met462Arg) c.1448T>G (p.Met483Arg) n.381+16T>G c.1369+16T>G (n.1369+16T>G) c.437T>G (p.Met146Arg) c.1382T>G (p.Met461Arg) c.1334T>G (p.Met445Arg) n.765T>G c.374T>G (p.Met125Arg) c.229+16T>G (n.229+16T>G) c.245T>G (p.Met82Arg) | |
7 | g.44145149A>G | CA367396759 | GCK | c.*1383T>C (n.*1383T>C) c.*505T>C (n.*505T>C) n.611T>C c.419T>C (p.Met140Thr) c.1388T>C (p.Met463Thr) c.1385T>C (p.Met462Thr) c.1448T>C (p.Met483Thr) n.381+16T>C c.1369+16T>C (n.1369+16T>C) c.437T>C (p.Met146Thr) c.1382T>C (p.Met461Thr) c.1334T>C (p.Met445Thr) n.765T>C c.374T>C (p.Met125Thr) c.229+16T>C (n.229+16T>C) c.245T>C (p.Met82Thr) | |
7 | g.44145149A>T | CA367396761 | GCK | c.*1383T>A (n.*1383T>A) c.*505T>A (n.*505T>A) n.611T>A c.419T>A (p.Met140Lys) c.1388T>A (p.Met463Lys) c.1385T>A (p.Met462Lys) c.1448T>A (p.Met483Lys) n.381+16T>A c.1369+16T>A (n.1369+16T>A) c.437T>A (p.Met146Lys) c.1382T>A (p.Met461Lys) c.1334T>A (p.Met445Lys) n.765T>A c.374T>A (p.Met125Lys) c.229+16T>A (n.229+16T>A) c.245T>A (p.Met82Lys) | |
7 | g.44145149_44145161del | CA2695202946 | GCK | c.*1371_*1383del (n.*1371_*1383del) c.*493_*505del (n.*493_*505del) n.599_611del c.407_419del (p.Lys136SerfsTer?) c.1376_1388del (p.Lys459SerfsTer?) c.1373_1385del (p.Lys458SerfsTer?) c.1436_1448del (p.Lys479SerfsTer?) n.381+4_381+16del c.1369+4_1369+16del (n.1369+4_1369+16del) c.425_437del (p.Lys142SerfsTer?) c.1370_1382del (p.Lys457SerfsTer?) c.1322_1334del (p.Lys441SerfsTer?) n.753_765del c.362_374del (p.Lys121SerfsTer?) c.229+4_229+16del (n.229+4_229+16del) c.233_245del (p.Lys78SerfsTer?) | |
7 | g.44145150T>A | CA367396762 | GCK | c.*1382A>T (n.*1382A>T) c.*504A>T (n.*504A>T) n.610A>T c.418A>T (p.Met140Leu) c.1387A>T (p.Met463Leu) c.1384A>T (p.Met462Leu) c.1447A>T (p.Met483Leu) n.381+15A>T c.1369+15A>T (n.1369+15A>T) c.436A>T (p.Met146Leu) c.1381A>T (p.Met461Leu) c.1333A>T (p.Met445Leu) n.764A>T c.373A>T (p.Met125Leu) c.229+15A>T (n.229+15A>T) c.244A>T (p.Met82Leu) | gnomAD v4 |
7 | g.44145150T>C | CA367396763 | GCK | c.*1382A>G (n.*1382A>G) c.*504A>G (n.*504A>G) n.610A>G c.418A>G (p.Met140Val) c.1387A>G (p.Met463Val) c.1384A>G (p.Met462Val) c.1447A>G (p.Met483Val) n.381+15A>G c.1369+15A>G (n.1369+15A>G) c.436A>G (p.Met146Val) c.1381A>G (p.Met461Val) c.1333A>G (p.Met445Val) n.764A>G c.373A>G (p.Met125Val) c.229+15A>G (n.229+15A>G) c.244A>G (p.Met82Val) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145150T>G | CA367396765 | GCK | c.*1382A>C (n.*1382A>C) c.*504A>C (n.*504A>C) n.610A>C c.418A>C (p.Met140Leu) c.1387A>C (p.Met463Leu) c.1384A>C (p.Met462Leu) c.1447A>C (p.Met483Leu) n.381+15A>C c.1369+15A>C (n.1369+15A>C) c.436A>C (p.Met146Leu) c.1381A>C (p.Met461Leu) c.1333A>C (p.Met445Leu) n.764A>C c.373A>C (p.Met125Leu) c.229+15A>C (n.229+15A>C) c.244A>C (p.Met82Leu) | |
7 | g.44145150T= | CA1703612642 | GCK | c.*1382A= (n.*1382A=) c.*504A= (n.*504A=) n.610A= c.418A= (p.Met140=) c.1387A= (p.Met463=) c.1384A= (p.Met462=) c.1447A= (p.Met483=) n.381+15A= c.1369+15A= (n.1369+15A=) c.436A= (p.Met146=) c.1381A= (p.Met461=) c.1333A= (p.Met445=) n.764A= c.373A= (p.Met125=) c.229+15A= (n.229+15A=) c.244A= (p.Met82=) | |
7 | g.44145158_44145169del | CA2017997780 | GCK | c.*1371_*1382del (n.*1371_*1382del) c.*493_*504del (n.*493_*504del) n.599_610del c.407_418del (p.Lys136_Cys139del) c.1376_1387del (p.Lys459_Cys462del) c.1373_1384del (p.Lys458_Cys461del) c.1436_1447del (p.Lys479_Cys482del) n.381+4_381+15del c.1369+4_1369+15del c.425_436del (p.Lys142_Cys145del) c.1370_1381del (p.Lys457_Cys460del) c.1322_1333del (p.Lys441_Cys444del) n.753_764del c.362_373del (p.Lys121_Cys124del) c.229+4_229+15del c.233_244del (p.Lys78_Cys81del) | ClinVar |
7 | g.44145151A>C | CA367396768 | GCK | c.*1381T>G (n.*1381T>G) c.*503T>G (n.*503T>G) n.609T>G c.417T>G (p.Cys139Trp) c.1386T>G (p.Cys462Trp) c.1383T>G (p.Cys461Trp) c.1446T>G (p.Cys482Trp) n.381+14T>G c.1369+14T>G (n.1369+14T>G) c.435T>G (p.Cys145Trp) c.1380T>G (p.Cys460Trp) c.1332T>G (p.Cys444Trp) n.763T>G c.372T>G (p.Cys124Trp) c.229+14T>G (n.229+14T>G) c.243T>G (p.Cys81Trp) | |
7 | g.44145151A>G | CA454606334 | GCK | c.*1381T>C (n.*1381T>C) c.*503T>C (n.*503T>C) n.609T>C c.417T>C (p.Cys139=) c.1386T>C (p.Cys462=) c.1383T>C (p.Cys461=) c.1446T>C (p.Cys482=) n.381+14T>C c.1369+14T>C (n.1369+14T>C) c.435T>C (p.Cys145=) c.1380T>C (p.Cys460=) c.1332T>C (p.Cys444=) n.763T>C c.372T>C (p.Cys124=) c.229+14T>C (n.229+14T>C) c.243T>C (p.Cys81=) | |
7 | g.44145151A>T | CA367396770 | GCK | c.*1381T>A (n.*1381T>A) c.*503T>A (n.*503T>A) n.609T>A c.417T>A (p.Cys139Ter) c.1386T>A (p.Cys462Ter) c.1383T>A (p.Cys461Ter) c.1446T>A (p.Cys482Ter) n.381+14T>A c.1369+14T>A (n.1369+14T>A) c.435T>A (p.Cys145Ter) c.1380T>A (p.Cys460Ter) c.1332T>A (p.Cys444Ter) n.763T>A c.372T>A (p.Cys124Ter) c.229+14T>A (n.229+14T>A) c.243T>A (p.Cys81Ter) | |
7 | g.44145152C>A | CA367396772 | GCK | c.*1380G>T (n.*1380G>T) c.*502G>T (n.*502G>T) n.608G>T c.416G>T (p.Cys139Phe) c.1385G>T (p.Cys462Phe) c.1382G>T (p.Cys461Phe) c.1445G>T (p.Cys482Phe) n.381+13G>T c.1369+13G>T (n.1369+13G>T) c.434G>T (p.Cys145Phe) c.1379G>T (p.Cys460Phe) c.1331G>T (p.Cys444Phe) n.762G>T c.371G>T (p.Cys124Phe) c.229+13G>T (n.229+13G>T) c.242G>T (p.Cys81Phe) | |
7 | g.44145152C>G | CA367396774 | GCK | c.*1380G>C (n.*1380G>C) c.*502G>C (n.*502G>C) n.608G>C c.416G>C (p.Cys139Ser) c.1385G>C (p.Cys462Ser) c.1382G>C (p.Cys461Ser) c.1445G>C (p.Cys482Ser) n.381+13G>C c.1369+13G>C (n.1369+13G>C) c.434G>C (p.Cys145Ser) c.1379G>C (p.Cys460Ser) c.1331G>C (p.Cys444Ser) n.762G>C c.371G>C (p.Cys124Ser) c.229+13G>C (n.229+13G>C) c.242G>C (p.Cys81Ser) | |
7 | g.44145152C>T | CA367396775 | GCK | c.*1380G>A (n.*1380G>A) c.*502G>A (n.*502G>A) n.608G>A c.416G>A (p.Cys139Tyr) c.1385G>A (p.Cys462Tyr) c.1382G>A (p.Cys461Tyr) c.1445G>A (p.Cys482Tyr) n.381+13G>A c.1369+13G>A (n.1369+13G>A) c.434G>A (p.Cys145Tyr) c.1379G>A (p.Cys460Tyr) c.1331G>A (p.Cys444Tyr) n.762G>A c.371G>A (p.Cys124Tyr) c.229+13G>A (n.229+13G>A) c.242G>A (p.Cys81Tyr) | |
7 | g.44145153A>C | CA367396778 | GCK | c.*1379T>G (n.*1379T>G) c.*501T>G (n.*501T>G) n.607T>G c.415T>G (p.Cys139Gly) c.1384T>G (p.Cys462Gly) c.1381T>G (p.Cys461Gly) c.1444T>G (p.Cys482Gly) n.381+12T>G c.1369+12T>G (n.1369+12T>G) c.433T>G (p.Cys145Gly) c.1378T>G (p.Cys460Gly) c.1330T>G (p.Cys444Gly) n.761T>G c.370T>G (p.Cys124Gly) c.229+12T>G (n.229+12T>G) c.241T>G (p.Cys81Gly) | |
7 | g.44145153A>G | CA367396780 | GCK | c.*1379T>C (n.*1379T>C) c.*501T>C (n.*501T>C) n.607T>C c.415T>C (p.Cys139Arg) c.1384T>C (p.Cys462Arg) c.1381T>C (p.Cys461Arg) c.1444T>C (p.Cys482Arg) n.381+12T>C c.1369+12T>C (n.1369+12T>C) c.433T>C (p.Cys145Arg) c.1378T>C (p.Cys460Arg) c.1330T>C (p.Cys444Arg) n.761T>C c.370T>C (p.Cys124Arg) c.229+12T>C (n.229+12T>C) c.241T>C (p.Cys81Arg) | |
7 | g.44145153A>T | CA367396782 | GCK | c.*1379T>A (n.*1379T>A) c.*501T>A (n.*501T>A) n.607T>A c.415T>A (p.Cys139Ser) c.1384T>A (p.Cys462Ser) c.1381T>A (p.Cys461Ser) c.1444T>A (p.Cys482Ser) n.381+12T>A c.1369+12T>A (n.1369+12T>A) c.433T>A (p.Cys145Ser) c.1378T>A (p.Cys460Ser) c.1330T>A (p.Cys444Ser) n.761T>A c.370T>A (p.Cys124Ser) c.229+12T>A (n.229+12T>A) c.241T>A (p.Cys81Ser) | |
7 | g.44145154G>A | CA4239372 | GCK | c.*1378C>T (n.*1378C>T) c.*500C>T (n.*500C>T) n.606C>T c.414C>T (p.Ala138=) c.1383C>T (p.Ala461=) c.1380C>T (p.Ala460=) c.1443C>T (p.Ala481=) n.381+11C>T c.1369+11C>T (n.1369+11C>T) c.432C>T (p.Ala144=) c.1377C>T (p.Ala459=) c.1329C>T (p.Ala443=) n.760C>T c.369C>T (p.Ala123=) c.229+11C>T (n.229+11C>T) c.240C>T (p.Ala80=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.44145154G>C | CA454606335 | GCK | c.*1378C>G (n.*1378C>G) c.*500C>G (n.*500C>G) n.606C>G c.414C>G (p.Ala138=) c.1383C>G (p.Ala461=) c.1380C>G (p.Ala460=) c.1443C>G (p.Ala481=) n.381+11C>G c.1369+11C>G (n.1369+11C>G) c.432C>G (p.Ala144=) c.1377C>G (p.Ala459=) c.1329C>G (p.Ala443=) n.760C>G c.369C>G (p.Ala123=) c.229+11C>G (n.229+11C>G) c.240C>G (p.Ala80=) | |
7 | g.44145154G= | CA1703612643 | GCK | c.*1378C= (n.*1378C=) c.*500C= (n.*500C=) n.606C= c.414C= (p.Ala138=) c.1383C= (p.Ala461=) c.1380C= (p.Ala460=) c.1443C= (p.Ala481=) n.381+11C= c.1369+11C= (n.1369+11C=) c.432C= (p.Ala144=) c.1377C= (p.Ala459=) c.1329C= (p.Ala443=) n.760C= c.369C= (p.Ala123=) c.229+11C= (n.229+11C=) c.240C= (p.Ala80=) | |
7 | g.44145154G>T | CA454606336 | GCK | c.*1378C>A (n.*1378C>A) c.*500C>A (n.*500C>A) n.606C>A c.414C>A (p.Ala138=) c.1383C>A (p.Ala461=) c.1380C>A (p.Ala460=) c.1443C>A (p.Ala481=) n.381+11C>A c.1369+11C>A (n.1369+11C>A) c.432C>A (p.Ala144=) c.1377C>A (p.Ala459=) c.1329C>A (p.Ala443=) n.760C>A c.369C>A (p.Ala123=) c.229+11C>A (n.229+11C>A) c.240C>A (p.Ala80=) | gnomAD v4 |
7 | g.44145155G>A | CA367396788 | GCK | c.*1377C>T (n.*1377C>T) c.*499C>T (n.*499C>T) n.605C>T c.413C>T (p.Ala138Val) c.1382C>T (p.Ala461Val) c.1379C>T (p.Ala460Val) c.1442C>T (p.Ala481Val) n.381+10C>T c.1369+10C>T (n.1369+10C>T) c.431C>T (p.Ala144Val) c.1376C>T (p.Ala459Val) c.1328C>T (p.Ala443Val) n.759C>T c.368C>T (p.Ala123Val) c.229+10C>T (n.229+10C>T) c.239C>T (p.Ala80Val) | gnomAD v4 |
7 | g.44145155G>C | CA367396790 | GCK | c.*1377C>G (n.*1377C>G) c.*499C>G (n.*499C>G) n.605C>G c.413C>G (p.Ala138Gly) c.1382C>G (p.Ala461Gly) c.1379C>G (p.Ala460Gly) c.1442C>G (p.Ala481Gly) n.381+10C>G c.1369+10C>G (n.1369+10C>G) c.431C>G (p.Ala144Gly) c.1376C>G (p.Ala459Gly) c.1328C>G (p.Ala443Gly) n.759C>G c.368C>G (p.Ala123Gly) c.229+10C>G (n.229+10C>G) c.239C>G (p.Ala80Gly) | |
7 | g.44145155G>T | CA367396786 | GCK | c.*1377C>A (n.*1377C>A) c.*499C>A (n.*499C>A) n.605C>A c.413C>A (p.Ala138Asp) c.1382C>A (p.Ala461Asp) c.1379C>A (p.Ala460Asp) c.1442C>A (p.Ala481Asp) n.381+10C>A c.1369+10C>A (n.1369+10C>A) c.431C>A (p.Ala144Asp) c.1376C>A (p.Ala459Asp) c.1328C>A (p.Ala443Asp) n.759C>A c.368C>A (p.Ala123Asp) c.229+10C>A (n.229+10C>A) c.239C>A (p.Ala80Asp) | gnomAD v4 |
7 | g.44145156C>A | CA367396792 | GCK | c.*1376G>T (n.*1376G>T) c.*498G>T (n.*498G>T) n.604G>T c.412G>T (p.Ala138Ser) c.1381G>T (p.Ala461Ser) c.1378G>T (p.Ala460Ser) c.1441G>T (p.Ala481Ser) n.381+9G>T c.1369+9G>T (n.1369+9G>T) c.430G>T (p.Ala144Ser) c.1375G>T (p.Ala459Ser) c.1327G>T (p.Ala443Ser) n.758G>T c.367G>T (p.Ala123Ser) c.229+9G>T (n.229+9G>T) c.238G>T (p.Ala80Ser) | |
7 | g.44145156C>G | CA367396794 | GCK | c.*1376G>C (n.*1376G>C) c.*498G>C (n.*498G>C) n.604G>C c.412G>C (p.Ala138Pro) c.1381G>C (p.Ala461Pro) c.1378G>C (p.Ala460Pro) c.1441G>C (p.Ala481Pro) n.381+9G>C c.1369+9G>C (n.1369+9G>C) c.430G>C (p.Ala144Pro) c.1375G>C (p.Ala459Pro) c.1327G>C (p.Ala443Pro) n.758G>C c.367G>C (p.Ala123Pro) c.229+9G>C (n.229+9G>C) c.238G>C (p.Ala80Pro) | |
7 | g.44145156C>T | CA367396796 | GCK | c.*1376G>A (n.*1376G>A) c.*498G>A (n.*498G>A) n.604G>A c.412G>A (p.Ala138Thr) c.1381G>A (p.Ala461Thr) c.1378G>A (p.Ala460Thr) c.1441G>A (p.Ala481Thr) n.381+9G>A c.1369+9G>A (n.1369+9G>A) c.430G>A (p.Ala144Thr) c.1375G>A (p.Ala459Thr) c.1327G>A (p.Ala443Thr) n.758G>A c.367G>A (p.Ala123Thr) c.229+9G>A (n.229+9G>A) c.238G>A (p.Ala80Thr) | |
7 | g.44145157del | CA2573102978 | GCK | c.*1376del (n.*1376del) c.*498del (n.*498del) n.604del c.412del (p.Ala138ProfsTer?) c.1381del (p.Ala461ProfsTer?) c.1378del (p.Ala460ProfsTer?) c.1441del (p.Ala481ProfsTer?) n.381+9del c.1369+9del (n.1369+9del) c.430del (p.Ala144ProfsTer?) c.1375del (p.Ala459ProfsTer?) c.1327del (p.Ala443ProfsTer?) n.758del c.367del (p.Ala123ProfsTer?) c.229+9del (n.229+9del) c.238del (p.Ala80ProfsTer?) | ClinVar |
7 | g.44145157C>A | CA367396798 | GCK | c.*1375G>T (n.*1375G>T) c.*497G>T (n.*497G>T) n.603G>T c.411G>T (p.Lys137Asn) c.1380G>T (p.Lys460Asn) c.1377G>T (p.Lys459Asn) c.1440G>T (p.Lys480Asn) n.381+8G>T c.1369+8G>T (n.1369+8G>T) c.429G>T (p.Lys143Asn) c.1374G>T (p.Lys458Asn) c.1326G>T (p.Lys442Asn) n.757G>T c.366G>T (p.Lys122Asn) c.229+8G>T (n.229+8G>T) c.237G>T (p.Lys79Asn) | |
7 | g.44145157C= | CA1703612644 | GCK | c.*1375G= (n.*1375G=) c.*497G= (n.*497G=) n.603G= c.411G= (p.Lys137=) c.1380G= (p.Lys460=) c.1377G= (p.Lys459=) c.1440G= (p.Lys480=) n.381+8G= c.1369+8G= (n.1369+8G=) c.429G= (p.Lys143=) c.1374G= (p.Lys458=) c.1326G= (p.Lys442=) n.757G= c.366G= (p.Lys122=) c.229+8G= (n.229+8G=) c.237G= (p.Lys79=) | |
7 | g.44145157C>G | CA367396799 | GCK | c.*1375G>C (n.*1375G>C) c.*497G>C (n.*497G>C) n.603G>C c.411G>C (p.Lys137Asn) c.1380G>C (p.Lys460Asn) c.1377G>C (p.Lys459Asn) c.1440G>C (p.Lys480Asn) n.381+8G>C c.1369+8G>C (n.1369+8G>C) c.429G>C (p.Lys143Asn) c.1374G>C (p.Lys458Asn) c.1326G>C (p.Lys442Asn) n.757G>C c.366G>C (p.Lys122Asn) c.229+8G>C (n.229+8G>C) c.237G>C (p.Lys79Asn) | |
7 | g.44145157C>T | CA454606337 | GCK | c.*1375G>A (n.*1375G>A) c.*497G>A (n.*497G>A) n.603G>A c.411G>A (p.Lys137=) c.1380G>A (p.Lys460=) c.1377G>A (p.Lys459=) c.1440G>A (p.Lys480=) n.381+8G>A c.1369+8G>A (n.1369+8G>A) c.429G>A (p.Lys143=) c.1374G>A (p.Lys458=) c.1326G>A (p.Lys442=) n.757G>A c.366G>A (p.Lys122=) c.229+8G>A (n.229+8G>A) c.237G>A (p.Lys79=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145158T>A | CA367396803 | GCK | c.*1374A>T (n.*1374A>T) c.*496A>T (n.*496A>T) n.602A>T c.410A>T (p.Lys137Met) c.1379A>T (p.Lys460Met) c.1376A>T (p.Lys459Met) c.1439A>T (p.Lys480Met) n.381+7A>T c.1369+7A>T (n.1369+7A>T) c.428A>T (p.Lys143Met) c.1373A>T (p.Lys458Met) c.1325A>T (p.Lys442Met) n.756A>T c.365A>T (p.Lys122Met) c.229+7A>T (n.229+7A>T) c.236A>T (p.Lys79Met) | |
7 | g.44145158T>C | CA367396805 | GCK | c.*1374A>G (n.*1374A>G) c.*496A>G (n.*496A>G) n.602A>G c.410A>G (p.Lys137Arg) c.1379A>G (p.Lys460Arg) c.1376A>G (p.Lys459Arg) c.1439A>G (p.Lys480Arg) n.381+7A>G c.1369+7A>G (n.1369+7A>G) c.428A>G (p.Lys143Arg) c.1373A>G (p.Lys458Arg) c.1325A>G (p.Lys442Arg) n.756A>G c.365A>G (p.Lys122Arg) c.229+7A>G (n.229+7A>G) c.236A>G (p.Lys79Arg) | gnomAD v4 |
7 | g.44145158T>G | CA367396806 | GCK | c.*1374A>C (n.*1374A>C) c.*496A>C (n.*496A>C) n.602A>C c.410A>C (p.Lys137Thr) c.1379A>C (p.Lys460Thr) c.1376A>C (p.Lys459Thr) c.1439A>C (p.Lys480Thr) n.381+7A>C c.1369+7A>C (n.1369+7A>C) c.428A>C (p.Lys143Thr) c.1373A>C (p.Lys458Thr) c.1325A>C (p.Lys442Thr) n.756A>C c.365A>C (p.Lys122Thr) c.229+7A>C (n.229+7A>C) c.236A>C (p.Lys79Thr) | |
7 | g.44145159_44145162del | CA2573102979 | GCK | c.*1371_*1374del (n.*1371_*1374del) c.*493_*496del (n.*493_*496del) n.599_602del c.407_410del (p.Lys136ArgfsTer?) c.1376_1379del (p.Lys459ArgfsTer?) c.1373_1376del (p.Lys458ArgfsTer?) c.1436_1439del (p.Lys479ArgfsTer?) n.381+4_381+7del c.1369+4_1369+7del (n.1369+4_1369+7del) c.425_428del (p.Lys142ArgfsTer?) c.1370_1373del (p.Lys457ArgfsTer?) c.1322_1325del (p.Lys441ArgfsTer?) n.753_756del c.362_365del (p.Lys121ArgfsTer?) c.229+4_229+7del (n.229+4_229+7del) c.233_236del (p.Lys78ArgfsTer?) | ClinVar |
7 | g.44145159T>A | CA367396808 | GCK | c.*1373A>T (n.*1373A>T) c.*495A>T (n.*495A>T) n.601A>T c.409A>T (p.Lys137Ter) c.1378A>T (p.Lys460Ter) c.1375A>T (p.Lys459Ter) c.1438A>T (p.Lys480Ter) n.381+6A>T c.1369+6A>T (n.1369+6A>T) c.427A>T (p.Lys143Ter) c.1372A>T (p.Lys458Ter) c.1324A>T (p.Lys442Ter) n.755A>T c.364A>T (p.Lys122Ter) c.229+6A>T (n.229+6A>T) c.235A>T (p.Lys79Ter) | |
7 | g.44145159T>C | CA367396810 | GCK | c.*1373A>G (n.*1373A>G) c.*495A>G (n.*495A>G) n.601A>G c.409A>G (p.Lys137Glu) c.1378A>G (p.Lys460Glu) c.1375A>G (p.Lys459Glu) c.1438A>G (p.Lys480Glu) n.381+6A>G c.1369+6A>G (n.1369+6A>G) c.427A>G (p.Lys143Glu) c.1372A>G (p.Lys458Glu) c.1324A>G (p.Lys442Glu) n.755A>G c.364A>G (p.Lys122Glu) c.229+6A>G (n.229+6A>G) c.235A>G (p.Lys79Glu) | |
7 | g.44145159T>G | CA367396812 | GCK | c.*1373A>C (n.*1373A>C) c.*495A>C (n.*495A>C) n.601A>C c.409A>C (p.Lys137Gln) c.1378A>C (p.Lys460Gln) c.1375A>C (p.Lys459Gln) c.1438A>C (p.Lys480Gln) n.381+6A>C c.1369+6A>C (n.1369+6A>C) c.427A>C (p.Lys143Gln) c.1372A>C (p.Lys458Gln) c.1324A>C (p.Lys442Gln) n.755A>C c.364A>C (p.Lys122Gln) c.229+6A>C (n.229+6A>C) c.235A>C (p.Lys79Gln) | |
7 | g.44145160C>A | CA367396814 | GCK | c.*1372G>T (n.*1372G>T) c.*494G>T (n.*494G>T) n.600G>T c.408G>T (p.Lys136Asn) c.1377G>T (p.Lys459Asn) c.1374G>T (p.Lys458Asn) c.1437G>T (p.Lys479Asn) n.381+5G>T c.1369+5G>T (n.1369+5G>T) c.426G>T (p.Lys142Asn) c.1371G>T (p.Lys457Asn) c.1323G>T (p.Lys441Asn) n.754G>T c.363G>T (p.Lys121Asn) c.229+5G>T (n.229+5G>T) c.234G>T (p.Lys78Asn) | gnomAD v4 |
7 | g.44145160C>G | CA367396816 | GCK | c.*1372G>C (n.*1372G>C) c.*494G>C (n.*494G>C) n.600G>C c.408G>C (p.Lys136Asn) c.1377G>C (p.Lys459Asn) c.1374G>C (p.Lys458Asn) c.1437G>C (p.Lys479Asn) n.381+5G>C c.1369+5G>C (n.1369+5G>C) c.426G>C (p.Lys142Asn) c.1371G>C (p.Lys457Asn) c.1323G>C (p.Lys441Asn) n.754G>C c.363G>C (p.Lys121Asn) c.229+5G>C (n.229+5G>C) c.234G>C (p.Lys78Asn) | |
7 | g.44145160C>T | CA454606338 | GCK | c.*1372G>A (n.*1372G>A) c.*494G>A (n.*494G>A) n.600G>A c.408G>A (p.Lys136=) c.1377G>A (p.Lys459=) c.1374G>A (p.Lys458=) c.1437G>A (p.Lys479=) n.381+5G>A c.1369+5G>A (n.1369+5G>A) c.426G>A (p.Lys142=) c.1371G>A (p.Lys457=) c.1323G>A (p.Lys441=) n.754G>A c.363G>A (p.Lys121=) c.229+5G>A (n.229+5G>A) c.234G>A (p.Lys78=) | |
7 | g.44145160_44145162delinsCTT | CA1703612645 | GCK | c.*1370_*1372delinsAAG (n.*1370_*1372delinsAAG) c.*492_*494delinsAAG (n.*492_*494delinsAAG) n.598_600delinsAAG c.406_408delinsAAG (p.Lys136=) c.1375_1377delinsAAG (p.Lys459=) c.1372_1374delinsAAG (p.Lys458=) c.1435_1437delinsAAG (p.Lys479=) n.381+3_381+5delinsAAG c.1369+3_1369+5delinsAAG (n.1369+3_1369+5delinsAAG) c.424_426delinsAAG (p.Lys142=) c.1369_1371delinsAAG (p.Lys457=) c.1321_1323delinsAAG (p.Lys441=) n.752_754delinsAAG c.361_363delinsAAG (p.Lys121=) c.229+3_229+5delinsAAG (n.229+3_229+5delinsAAG) c.232_234delinsAAG (p.Lys78=) | |
7 | g.44145161T>A | CA367396822 | GCK | c.*1371A>T (n.*1371A>T) c.*493A>T (n.*493A>T) n.599A>T c.407A>T (p.Lys136Met) c.1376A>T (p.Lys459Met) c.1373A>T (p.Lys458Met) c.1436A>T (p.Lys479Met) n.381+4A>T c.1369+4A>T (n.1369+4A>T) c.425A>T (p.Lys142Met) c.1370A>T (p.Lys457Met) c.1322A>T (p.Lys441Met) n.753A>T c.362A>T (p.Lys121Met) c.229+4A>T (n.229+4A>T) c.233A>T (p.Lys78Met) | |
7 | g.44145161T>C | CA367396818 | GCK | c.*1371A>G (n.*1371A>G) c.*493A>G (n.*493A>G) n.599A>G c.407A>G (p.Lys136Arg) c.1376A>G (p.Lys459Arg) c.1373A>G (p.Lys458Arg) c.1436A>G (p.Lys479Arg) n.381+4A>G c.1369+4A>G (n.1369+4A>G) c.425A>G (p.Lys142Arg) c.1370A>G (p.Lys457Arg) c.1322A>G (p.Lys441Arg) n.753A>G c.362A>G (p.Lys121Arg) c.229+4A>G (n.229+4A>G) c.233A>G (p.Lys78Arg) | gnomAD v4 |
7 | g.44145161T>G | CA367396820 | GCK | c.*1371A>C (n.*1371A>C) c.*493A>C (n.*493A>C) n.599A>C c.407A>C (p.Lys136Thr) c.1376A>C (p.Lys459Thr) c.1373A>C (p.Lys458Thr) c.1436A>C (p.Lys479Thr) n.381+4A>C c.1369+4A>C (n.1369+4A>C) c.425A>C (p.Lys142Thr) c.1370A>C (p.Lys457Thr) c.1322A>C (p.Lys441Thr) n.753A>C c.362A>C (p.Lys121Thr) c.229+4A>C (n.229+4A>C) c.233A>C (p.Lys78Thr) | |
7 | g.44145161_44145162del | CA213762 | GCK | c.*1370_*1371del (n.*1370_*1371del) c.*492_*493del (n.*492_*493del) n.598_599del c.406_407del (p.Lys136GlufsTer?) c.1375_1376del (p.Lys459GlufsTer?) c.1372_1373del (p.Lys458GlufsTer?) c.1435_1436del (p.Lys479GlufsTer?) n.381+3_381+4del c.1369+3_1369+4del (n.1369+3_1369+4del) c.424_425del (p.Lys142GlufsTer?) c.1369_1370del (p.Lys457GlufsTer?) c.1321_1322del (p.Lys441GlufsTer?) n.752_753del c.361_362del (p.Lys121GlufsTer?) c.229+3_229+4del (n.229+3_229+4del) c.232_233del (p.Lys78GlufsTer?) | ClinVar dbSNP |
7 | g.44145162del | CA2714458558 | GCK | c.*1371del (n.*1371del) c.*493del (n.*493del) n.599del c.407del (p.Lys136ArgfsTer?) c.1376del (p.Lys459ArgfsTer?) c.1373del (p.Lys458ArgfsTer?) c.1436del (p.Lys479ArgfsTer?) n.381+4del c.1369+4del (n.1369+4del) c.425del (p.Lys142ArgfsTer?) c.1370del (p.Lys457ArgfsTer?) c.1322del (p.Lys441ArgfsTer?) n.753del c.362del (p.Lys121ArgfsTer?) c.229+4del (n.229+4del) c.233del (p.Lys78ArgfsTer?) | dbSNP |
7 | g.44145162T>A | CA367396824 | GCK | c.*1370A>T (n.*1370A>T) c.*492A>T (n.*492A>T) n.598A>T c.406A>T (p.Lys136Ter) c.1375A>T (p.Lys459Ter) c.1372A>T (p.Lys458Ter) c.1435A>T (p.Lys479Ter) n.381+3A>T c.1369+3A>T (n.1369+3A>T) c.424A>T (p.Lys142Ter) c.1369A>T (p.Lys457Ter) c.1321A>T (p.Lys441Ter) n.752A>T c.361A>T (p.Lys121Ter) c.229+3A>T (n.229+3A>T) c.232A>T (p.Lys78Ter) | |
7 | g.44145162T>C | CA367396825 | GCK | c.*1370A>G (n.*1370A>G) c.*492A>G (n.*492A>G) n.598A>G c.406A>G (p.Lys136Glu) c.1375A>G (p.Lys459Glu) c.1372A>G (p.Lys458Glu) c.1435A>G (p.Lys479Glu) n.381+3A>G c.1369+3A>G (n.1369+3A>G) c.424A>G (p.Lys142Glu) c.1369A>G (p.Lys457Glu) c.1321A>G (p.Lys441Glu) n.752A>G c.361A>G (p.Lys121Glu) c.229+3A>G (n.229+3A>G) c.232A>G (p.Lys78Glu) | gnomAD v4 |
7 | g.44145162T>G | CA367396827 | GCK | c.*1370A>C (n.*1370A>C) c.*492A>C (n.*492A>C) n.598A>C c.406A>C (p.Lys136Gln) c.1375A>C (p.Lys459Gln) c.1372A>C (p.Lys458Gln) c.1435A>C (p.Lys479Gln) n.381+3A>C c.1369+3A>C (n.1369+3A>C) c.424A>C (p.Lys142Gln) c.1369A>C (p.Lys457Gln) c.1321A>C (p.Lys441Gln) n.752A>C c.361A>C (p.Lys121Gln) c.229+3A>C (n.229+3A>C) c.232A>C (p.Lys78Gln) | |
7 | g.44145163A>C | CA367396829 | GCK | c.*1369T>G (n.*1369T>G) c.*491T>G (n.*491T>G) n.597T>G c.405T>G (p.Cys135Trp) c.1374T>G (p.Cys458Trp) c.1371T>G (p.Cys457Trp) c.1434T>G (p.Cys478Trp) n.381+2T>G c.1369+2T>G (n.1369+2T>G) c.423T>G (p.Cys141Trp) c.1368T>G (p.Cys456Trp) c.1320T>G (p.Cys440Trp) n.751T>G c.360T>G (p.Cys120Trp) c.229+2T>G (n.229+2T>G) c.231T>G (p.Cys77Trp) | |
7 | g.44145163A>G | CA454606339 | GCK | c.*1369T>C (n.*1369T>C) c.*491T>C (n.*491T>C) n.597T>C c.405T>C (p.Cys135=) c.1374T>C (p.Cys458=) c.1371T>C (p.Cys457=) c.1434T>C (p.Cys478=) n.381+2T>C c.1369+2T>C (n.1369+2T>C) c.423T>C (p.Cys141=) c.1368T>C (p.Cys456=) c.1320T>C (p.Cys440=) n.751T>C c.360T>C (p.Cys120=) c.229+2T>C (n.229+2T>C) c.231T>C (p.Cys77=) | |
7 | g.44145163A>T | CA367396830 | GCK | c.*1369T>A (n.*1369T>A) c.*491T>A (n.*491T>A) n.597T>A c.405T>A (p.Cys135Ter) c.1374T>A (p.Cys458Ter) c.1371T>A (p.Cys457Ter) c.1434T>A (p.Cys478Ter) n.381+2T>A c.1369+2T>A (n.1369+2T>A) c.423T>A (p.Cys141Ter) c.1368T>A (p.Cys456Ter) c.1320T>A (p.Cys440Ter) n.751T>A c.360T>A (p.Cys120Ter) c.229+2T>A (n.229+2T>A) c.231T>A (p.Cys77Ter) | |
7 | g.44145164C>A | CA367396832 | GCK | c.*1368G>T (n.*1368G>T) c.*490G>T (n.*490G>T) n.596G>T c.404G>T (p.Cys135Phe) c.1373G>T (p.Cys458Phe) c.1370G>T (p.Cys457Phe) c.1433G>T (p.Cys478Phe) n.381+1G>T c.1369+1G>T (n.1369+1G>T) c.422G>T (p.Cys141Phe) c.1367G>T (p.Cys456Phe) c.1319G>T (p.Cys440Phe) n.750G>T c.359G>T (p.Cys120Phe) c.229+1G>T (n.229+1G>T) c.230G>T (p.Cys77Phe) | |
7 | g.44145164C>G | CA367396834 | GCK | c.*1368G>C (n.*1368G>C) c.*490G>C (n.*490G>C) n.596G>C c.404G>C (p.Cys135Ser) c.1373G>C (p.Cys458Ser) c.1370G>C (p.Cys457Ser) c.1433G>C (p.Cys478Ser) n.381+1G>C c.1369+1G>C (n.1369+1G>C) c.422G>C (p.Cys141Ser) c.1367G>C (p.Cys456Ser) c.1319G>C (p.Cys440Ser) n.750G>C c.359G>C (p.Cys120Ser) c.229+1G>C (n.229+1G>C) c.230G>C (p.Cys77Ser) | gnomAD v4 |
7 | g.44145164C>T | CA367396836 | GCK | c.*1368G>A (n.*1368G>A) c.*490G>A (n.*490G>A) n.596G>A c.404G>A (p.Cys135Tyr) c.1373G>A (p.Cys458Tyr) c.1370G>A (p.Cys457Tyr) c.1433G>A (p.Cys478Tyr) n.381+1G>A c.1369+1G>A (n.1369+1G>A) c.422G>A (p.Cys141Tyr) c.1367G>A (p.Cys456Tyr) c.1319G>A (p.Cys440Tyr) n.750G>A c.359G>A (p.Cys120Tyr) c.229+1G>A (n.229+1G>A) c.230G>A (p.Cys77Tyr) | gnomAD v4 |
7 | g.44145165A= | CA1703612646 | GCK | c.*1367T= (n.*1367T=) c.*489T= (n.*489T=) n.595T= c.403T= (p.Cys135=) c.1372T= (p.Cys458=) c.1369T= (p.Cys457=) c.1432T= (p.Cys478=) n.381T= c.1369T= (p.Ter457=) c.421T= (p.Cys141=) c.1366T= (p.Cys456=) c.1318T= (p.Cys440=) n.749T= c.358T= (p.Cys120=) c.229T= (p.Ter77=) c.229T= (p.Cys77=) | |
7 | g.44145165A>C | CA367396838 | GCK | c.*1367T>G (n.*1367T>G) c.*489T>G (n.*489T>G) n.595T>G c.403T>G (p.Cys135Gly) c.1372T>G (p.Cys458Gly) c.1369T>G (p.Cys457Gly) c.1432T>G (p.Cys478Gly) n.381T>G c.1369T>G (p.Ter457Gly) c.421T>G (p.Cys141Gly) c.1366T>G (p.Cys456Gly) c.1318T>G (p.Cys440Gly) n.749T>G c.358T>G (p.Cys120Gly) c.229T>G (p.Ter77Gly) c.229T>G (p.Cys77Gly) | |
7 | g.44145165A>G | CA367396839 | GCK | c.*1367T>C (n.*1367T>C) c.*489T>C (n.*489T>C) n.595T>C c.403T>C (p.Cys135Arg) c.1372T>C (p.Cys458Arg) c.1369T>C (p.Cys457Arg) c.1432T>C (p.Cys478Arg) n.381T>C c.1369T>C (p.Ter457Arg) c.421T>C (p.Cys141Arg) c.1366T>C (p.Cys456Arg) c.1318T>C (p.Cys440Arg) n.749T>C c.358T>C (p.Cys120Arg) c.229T>C (p.Ter77Arg) c.229T>C (p.Cys77Arg) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145165A>T | CA367396845 | GCK | c.*1367T>A (n.*1367T>A) c.*489T>A (n.*489T>A) n.595T>A c.403T>A (p.Cys135Ser) c.1372T>A (p.Cys458Ser) c.1369T>A (p.Cys457Ser) c.1432T>A (p.Cys478Ser) n.381T>A c.1369T>A (p.Ter457Arg) c.421T>A (p.Cys141Ser) c.1366T>A (p.Cys456Ser) c.1318T>A (p.Cys440Ser) n.749T>A c.358T>A (p.Cys120Ser) c.229T>A (p.Ter77Arg) c.229T>A (p.Cys77Ser) | |
7 | g.44145165_44145194delinsAGGCCACCGCCGAGACCAGGGCCGCGCCCC | CA1703612647 | GCK | c.*1338_*1367delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT (n.*1338_*1367delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT) c.*460_*489delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT (n.*460_*489delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT) n.566_595delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT c.374_403delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT (p.Arg125=) c.1343_1372delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT (p.Arg448=) c.1340_1369delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT (p.Arg447=) c.1403_1432delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT (p.Arg468=) n.352_381delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT c.392_421delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT (p.Arg131=) c.1337_1366delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT (p.Arg446=) c.1289_1318delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT (p.Arg430=) n.720_749delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT c.329_358delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT (p.Arg110=) c.200_229delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT (p.Arg67=) | |
7 | g.44145166G>A | CA454606340 | GCK | c.*1366C>T (n.*1366C>T) c.*488C>T (n.*488C>T) n.594C>T c.402C>T (p.Ala134=) c.1371C>T (p.Ala457=) c.1368C>T (p.Ala456=) c.1431C>T (p.Ala477=) n.380C>T c.420C>T (p.Ala140=) c.1365C>T (p.Ala455=) c.1317C>T (p.Ala439=) n.748C>T c.357C>T (p.Ala119=) c.228C>T (p.Ala76=) | |
7 | g.44145166G>C | CA454606341 | GCK | c.*1366C>G (n.*1366C>G) c.*488C>G (n.*488C>G) n.594C>G c.402C>G (p.Ala134=) c.1371C>G (p.Ala457=) c.1368C>G (p.Ala456=) c.1431C>G (p.Ala477=) n.380C>G c.420C>G (p.Ala140=) c.1365C>G (p.Ala455=) c.1317C>G (p.Ala439=) n.748C>G c.357C>G (p.Ala119=) c.228C>G (p.Ala76=) | |
7 | g.44145166G>T | CA454606342 | GCK | c.*1366C>A (n.*1366C>A) c.*488C>A (n.*488C>A) n.594C>A c.402C>A (p.Ala134=) c.1371C>A (p.Ala457=) c.1368C>A (p.Ala456=) c.1431C>A (p.Ala477=) n.380C>A c.420C>A (p.Ala140=) c.1365C>A (p.Ala455=) c.1317C>A (p.Ala439=) n.748C>A c.357C>A (p.Ala119=) c.228C>A (p.Ala76=) | gnomAD v4 |
7 | g.44145167del | CA2017997779 | GCK | c.*1366del (n.*1366del) c.*488del (n.*488del) n.594del c.402del (p.Cys135ValfsTer?) c.1371del (p.Cys458ValfsTer?) c.1368del (p.Cys457ValfsTer?) c.1431del (p.Cys478ValfsTer?) n.380del c.1368del (p.Ter457AspextTer7) c.420del (p.Cys141ValfsTer?) c.1365del (p.Cys456ValfsTer?) c.1317del (p.Cys440ValfsTer?) n.748del c.357del (p.Cys120ValfsTer?) c.228del (p.Ter77AspextTer7) c.228del (p.Cys77ValfsTer?) | ClinVar |
7 | g.44145172_44145200del | CA838788768 | GCK | c.*1338_*1366del (n.*1338_*1366del) c.*460_*488del (n.*460_*488del) n.566_594del c.374_402del (p.Arg125LeufsTer2) c.1343_1371del (p.Arg448LeufsTer2) c.1340_1368del (p.Arg447LeufsTer2) c.1403_1431del (p.Arg468LeufsTer2) n.352_380del c.1340_1368del (p.Arg447LeufsTer15) c.392_420del (p.Arg131LeufsTer2) c.1337_1365del (p.Arg446LeufsTer2) c.1289_1317del (p.Arg430LeufsTer2) n.720_748del c.329_357del (p.Arg110LeufsTer2) c.200_228del (p.Arg67LeufsTer15) c.200_228del (p.Arg67LeufsTer2) | ClinVar dbSNP |
7 | g.44145167G>A | CA257433 | GCK | c.*1365C>T (n.*1365C>T) c.*487C>T (n.*487C>T) n.593C>T c.401C>T (p.Ala134Val) c.1370C>T (p.Ala457Val) c.1367C>T (p.Ala456Val) c.1430C>T (p.Ala477Val) n.379C>T c.419C>T (p.Ala140Val) c.1364C>T (p.Ala455Val) c.1316C>T (p.Ala439Val) n.747C>T c.356C>T (p.Ala119Val) c.227C>T (p.Ala76Val) | ClinVar dbSNP |
7 | g.44145167G>C | CA367396849 | GCK | c.*1365C>G (n.*1365C>G) c.*487C>G (n.*487C>G) n.593C>G c.401C>G (p.Ala134Gly) c.1370C>G (p.Ala457Gly) c.1367C>G (p.Ala456Gly) c.1430C>G (p.Ala477Gly) n.379C>G c.419C>G (p.Ala140Gly) c.1364C>G (p.Ala455Gly) c.1316C>G (p.Ala439Gly) n.747C>G c.356C>G (p.Ala119Gly) c.227C>G (p.Ala76Gly) | |
7 | g.44145167G= | CA1703612648 | GCK | c.*1365C= (n.*1365C=) c.*487C= (n.*487C=) n.593C= c.401C= (p.Ala134=) c.1370C= (p.Ala457=) c.1367C= (p.Ala456=) c.1430C= (p.Ala477=) n.379C= c.419C= (p.Ala140=) c.1364C= (p.Ala455=) c.1316C= (p.Ala439=) n.747C= c.356C= (p.Ala119=) c.227C= (p.Ala76=) | |
7 | g.44145167G>T | CA367396848 | GCK | c.*1365C>A (n.*1365C>A) c.*487C>A (n.*487C>A) n.593C>A c.401C>A (p.Ala134Asp) c.1370C>A (p.Ala457Asp) c.1367C>A (p.Ala456Asp) c.1430C>A (p.Ala477Asp) n.379C>A c.419C>A (p.Ala140Asp) c.1364C>A (p.Ala455Asp) c.1316C>A (p.Ala439Asp) n.747C>A c.356C>A (p.Ala119Asp) c.227C>A (p.Ala76Asp) | gnomAD v4 |
7 | g.44145170_44145588del | CA2573142177 | GCK | c.*1163_*1365del c.*285_*487del n.391_593del c.199_401del c.1168_1370del c.1165_1367del c.1228_1430del n.177_379del c.217_419del c.1162_1364del c.1114_1316del n.545_747del c.154_356del c.25_227del | ClinVar |
7 | g.44145168C>A | CA367396850 | GCK | c.*1364G>T (n.*1364G>T) c.*486G>T (n.*486G>T) n.592G>T c.400G>T (p.Ala134Ser) c.1369G>T (p.Ala457Ser) c.1366G>T (p.Ala456Ser) c.1429G>T (p.Ala477Ser) n.378G>T c.418G>T (p.Ala140Ser) c.1363G>T (p.Ala455Ser) c.1315G>T (p.Ala439Ser) n.746G>T c.355G>T (p.Ala119Ser) c.226G>T (p.Ala76Ser) | |
7 | g.44145168C>G | CA367396852 | GCK | c.*1364G>C (n.*1364G>C) c.*486G>C (n.*486G>C) n.592G>C c.400G>C (p.Ala134Pro) c.1369G>C (p.Ala457Pro) c.1366G>C (p.Ala456Pro) c.1429G>C (p.Ala477Pro) n.378G>C c.418G>C (p.Ala140Pro) c.1363G>C (p.Ala455Pro) c.1315G>C (p.Ala439Pro) n.746G>C c.355G>C (p.Ala119Pro) c.226G>C (p.Ala76Pro) | |
7 | g.44145168C>T | CA367396853 | GCK | c.*1364G>A (n.*1364G>A) c.*486G>A (n.*486G>A) n.592G>A c.400G>A (p.Ala134Thr) c.1369G>A (p.Ala457Thr) c.1366G>A (p.Ala456Thr) c.1429G>A (p.Ala477Thr) n.378G>A c.418G>A (p.Ala140Thr) c.1363G>A (p.Ala455Thr) c.1315G>A (p.Ala439Thr) n.746G>A c.355G>A (p.Ala119Thr) c.226G>A (p.Ala76Thr) | gnomAD v4 |
7 | g.44145169C>A | CA454606343 | GCK | c.*1363G>T (n.*1363G>T) c.*485G>T (n.*485G>T) n.591G>T c.399G>T (p.Val133=) c.1368G>T (p.Val456=) c.1365G>T (p.Val455=) c.1428G>T (p.Val476=) n.377G>T c.417G>T (p.Val139=) c.1362G>T (p.Val454=) c.1314G>T (p.Val438=) n.745G>T c.354G>T (p.Val118=) c.225G>T (p.Val75=) | |
7 | g.44145169C= | CA1703612649 | GCK | c.*1363G= (n.*1363G=) c.*485G= (n.*485G=) n.591G= c.399G= (p.Val133=) c.1368G= (p.Val456=) c.1365G= (p.Val455=) c.1428G= (p.Val476=) n.377G= c.417G= (p.Val139=) c.1362G= (p.Val454=) c.1314G= (p.Val438=) n.745G= c.354G= (p.Val118=) c.225G= (p.Val75=) | |
7 | g.44145169C>G | CA454606344 | GCK | c.*1363G>C (n.*1363G>C) c.*485G>C (n.*485G>C) n.591G>C c.399G>C (p.Val133=) c.1368G>C (p.Val456=) c.1365G>C (p.Val455=) c.1428G>C (p.Val476=) n.377G>C c.417G>C (p.Val139=) c.1362G>C (p.Val454=) c.1314G>C (p.Val438=) n.745G>C c.354G>C (p.Val118=) c.225G>C (p.Val75=) | |
7 | g.44145169C>T | CA454606345 | GCK | c.*1363G>A (n.*1363G>A) c.*485G>A (n.*485G>A) n.591G>A c.399G>A (p.Val133=) c.1368G>A (p.Val456=) c.1365G>A (p.Val455=) c.1428G>A (p.Val476=) n.377G>A c.417G>A (p.Val139=) c.1362G>A (p.Val454=) c.1314G>A (p.Val438=) n.745G>A c.354G>A (p.Val118=) c.225G>A (p.Val75=) | dbSNP |
7 | g.44145170A= | CA1703612650 | GCK | c.*1362T= (n.*1362T=) c.*484T= (n.*484T=) n.590T= c.398T= (p.Val133=) c.1367T= (p.Val456=) c.1364T= (p.Val455=) c.1427T= (p.Val476=) n.376T= c.416T= (p.Val139=) c.1361T= (p.Val454=) c.1313T= (p.Val438=) n.744T= c.353T= (p.Val118=) c.224T= (p.Val75=) | |
7 | g.44145170A>C | CA367396854 | GCK | c.*1362T>G (n.*1362T>G) c.*484T>G (n.*484T>G) n.590T>G c.398T>G (p.Val133Gly) c.1367T>G (p.Val456Gly) c.1364T>G (p.Val455Gly) c.1427T>G (p.Val476Gly) n.376T>G c.416T>G (p.Val139Gly) c.1361T>G (p.Val454Gly) c.1313T>G (p.Val438Gly) n.744T>G c.353T>G (p.Val118Gly) c.224T>G (p.Val75Gly) | dbSNP |
7 | g.44145170A>G | CA367396855 | GCK | c.*1362T>C (n.*1362T>C) c.*484T>C (n.*484T>C) n.590T>C c.398T>C (p.Val133Ala) c.1367T>C (p.Val456Ala) c.1364T>C (p.Val455Ala) c.1427T>C (p.Val476Ala) n.376T>C c.416T>C (p.Val139Ala) c.1361T>C (p.Val454Ala) c.1313T>C (p.Val438Ala) n.744T>C c.353T>C (p.Val118Ala) c.224T>C (p.Val75Ala) | gnomAD v4 |
7 | g.44145170A>T | CA4239373 | GCK | c.*1362T>A (n.*1362T>A) c.*484T>A (n.*484T>A) n.590T>A c.398T>A (p.Val133Glu) c.1367T>A (p.Val456Glu) c.1364T>A (p.Val455Glu) c.1427T>A (p.Val476Glu) n.376T>A c.416T>A (p.Val139Glu) c.1361T>A (p.Val454Glu) c.1313T>A (p.Val438Glu) n.744T>A c.353T>A (p.Val118Glu) c.224T>A (p.Val75Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44145171C>A | CA367396857 | GCK | c.*1361G>T (n.*1361G>T) c.*483G>T (n.*483G>T) n.589G>T c.397G>T (p.Val133Leu) c.1366G>T (p.Val456Leu) c.1363G>T (p.Val455Leu) c.1426G>T (p.Val476Leu) n.375G>T c.415G>T (p.Val139Leu) c.1360G>T (p.Val454Leu) c.1312G>T (p.Val438Leu) n.743G>T c.352G>T (p.Val118Leu) c.223G>T (p.Val75Leu) | |
7 | g.44145171C= | CA1703612652 | GCK | c.*1361G= (n.*1361G=) c.*483G= (n.*483G=) n.589G= c.397G= (p.Val133=) c.1366G= (p.Val456=) c.1363G= (p.Val455=) c.1426G= (p.Val476=) n.375G= c.415G= (p.Val139=) c.1360G= (p.Val454=) c.1312G= (p.Val438=) n.743G= c.352G= (p.Val118=) c.223G= (p.Val75=) | |
7 | g.44145171C>G | CA367396858 | GCK | c.*1361G>C (n.*1361G>C) c.*483G>C (n.*483G>C) n.589G>C c.397G>C (p.Val133Leu) c.1366G>C (p.Val456Leu) c.1363G>C (p.Val455Leu) c.1426G>C (p.Val476Leu) n.375G>C c.415G>C (p.Val139Leu) c.1360G>C (p.Val454Leu) c.1312G>C (p.Val438Leu) n.743G>C c.352G>C (p.Val118Leu) c.223G>C (p.Val75Leu) | |
7 | g.44145171C>T | CA257432 | GCK | c.*1361G>A (n.*1361G>A) c.*483G>A (n.*483G>A) n.589G>A c.397G>A (p.Val133Met) c.1366G>A (p.Val456Met) c.1363G>A (p.Val455Met) c.1426G>A (p.Val476Met) n.375G>A c.415G>A (p.Val139Met) c.1360G>A (p.Val454Met) c.1312G>A (p.Val438Met) n.743G>A c.352G>A (p.Val118Met) c.223G>A (p.Val75Met) | ClinVar dbSNP gnomAD v4 |
7 | g.44145172_44145173insCCCC | CA157911785 | GCK | c.*1361_*1362insGGGG (n.*1361_*1362insGGGG) c.*483_*484insGGGG (n.*483_*484insGGGG) n.589_590insGGGG c.397_398insGGGG (p.Val133GlyfsTer5) c.1366_1367insGGGG (p.Val456GlyfsTer5) c.1363_1364insGGGG (p.Val455GlyfsTer5) c.1426_1427insGGGG (p.Val476GlyfsTer5) n.375_376insGGGG c.1363_1364insGGGG (p.Val455GlyfsTer18) c.415_416insGGGG (p.Val139GlyfsTer5) c.1360_1361insGGGG (p.Val454GlyfsTer5) c.1312_1313insGGGG (p.Val438GlyfsTer5) n.743_744insGGGG c.352_353insGGGG (p.Val118GlyfsTer5) c.223_224insGGGG (p.Val75GlyfsTer18) c.223_224insGGGG (p.Val75GlyfsTer5) | dbSNP |
7 | g.44145172dup | CA2573102980 | GCK | c.*1361dup (n.*1361dup) c.*483dup (n.*483dup) n.589dup c.397dup (p.Val133GlyfsTer4) c.1366dup (p.Val456GlyfsTer4) c.1363dup (p.Val455GlyfsTer4) c.1426dup (p.Val476GlyfsTer4) n.375dup c.1363dup (p.Val455GlyfsTer17) c.415dup (p.Val139GlyfsTer4) c.1360dup (p.Val454GlyfsTer4) c.1312dup (p.Val438GlyfsTer4) n.743dup c.352dup (p.Val118GlyfsTer4) c.223dup (p.Val75GlyfsTer17) c.223dup (p.Val75GlyfsTer4) | ClinVar |
7 | g.44145174_44145176dup | CA645372837 | GCK | c.*1359_*1361dup (n.*1359_*1361dup) c.*481_*483dup (n.*481_*483dup) n.587_589dup c.395_397dup (p.Ala132_Val133insAla) c.1364_1366dup (p.Ala455_Val456insAla) c.1361_1363dup (p.Ala454_Val455insAla) c.1424_1426dup (p.Ala475_Val476insAla) n.373_375dup c.413_415dup (p.Ala138_Val139insAla) c.1358_1360dup (p.Ala453_Val454insAla) c.1310_1312dup (p.Ala437_Val438insAla) n.741_743dup c.350_352dup (p.Ala117_Val118insAla) c.221_223dup (p.Ala74_Val75insAla) | ClinVar dbSNP |
7 | g.44145171_44145250delinsCCGCCGAGACCAGGGCCGCGCCCCGGCCACTGCCCTCCTCCGACTCGATGAAGGTGATCTCGCAGCTGGGCGTCAGCCTG | CA1703612651 | GCK | c.*1282_*1361delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG (n.*1282_*1361delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG) c.*404_*483delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG (n.*404_*483delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG) n.510_589delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG c.318_397delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG (p.Arg106=) c.1287_1366delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG (p.Arg429=) c.1284_1363delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG (p.Arg428=) c.1347_1426delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG (p.Arg449=) n.296_375delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG c.336_415delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG (p.Arg112=) c.1281_1360delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG (p.Arg427=) c.1233_1312delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG (p.Arg411=) n.664_743delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG c.273_352delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG (p.Arg91=) c.144_223delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG (p.Arg48=) | |
7 | g.44145172C>A | CA157911798 | GCK | c.*1360G>T (n.*1360G>T) c.*482G>T (n.*482G>T) n.588G>T c.396G>T (p.Ala132=) c.1365G>T (p.Ala455=) c.1362G>T (p.Ala454=) c.1425G>T (p.Ala475=) n.374G>T c.414G>T (p.Ala138=) c.1359G>T (p.Ala453=) c.1311G>T (p.Ala437=) n.742G>T c.351G>T (p.Ala117=) c.222G>T (p.Ala74=) | dbSNP gnomAD v4 |
7 | g.44145172C= | CA1703612653 | GCK | c.*1360G= (n.*1360G=) c.*482G= (n.*482G=) n.588G= c.396G= (p.Ala132=) c.1365G= (p.Ala455=) c.1362G= (p.Ala454=) c.1425G= (p.Ala475=) n.374G= c.414G= (p.Ala138=) c.1359G= (p.Ala453=) c.1311G= (p.Ala437=) n.742G= c.351G= (p.Ala117=) c.222G= (p.Ala74=) | |
7 | g.44145172C>G | CA454606346 | GCK | c.*1360G>C (n.*1360G>C) c.*482G>C (n.*482G>C) n.588G>C c.396G>C (p.Ala132=) c.1365G>C (p.Ala455=) c.1362G>C (p.Ala454=) c.1425G>C (p.Ala475=) n.374G>C c.414G>C (p.Ala138=) c.1359G>C (p.Ala453=) c.1311G>C (p.Ala437=) n.742G>C c.351G>C (p.Ala117=) c.222G>C (p.Ala74=) | gnomAD v4 |
7 | g.44145172C>T | CA454606347 | GCK | c.*1360G>A (n.*1360G>A) c.*482G>A (n.*482G>A) n.588G>A c.396G>A (p.Ala132=) c.1365G>A (p.Ala455=) c.1362G>A (p.Ala454=) c.1425G>A (p.Ala475=) n.374G>A c.414G>A (p.Ala138=) c.1359G>A (p.Ala453=) c.1311G>A (p.Ala437=) n.742G>A c.351G>A (p.Ala117=) c.222G>A (p.Ala74=) | gnomAD v4 |
7 | g.44145172_44145184delinsCGCCGAGACCAGG | CA1703612654 | GCK | c.*1348_*1360delinsCCTGGTCTCGGCG (n.*1348_*1360delinsCCTGGTCTCGGCG) c.*470_*482delinsCCTGGTCTCGGCG (n.*470_*482delinsCCTGGTCTCGGCG) n.576_588delinsCCTGGTCTCGGCG c.384_396delinsCCTGGTCTCGGCG (p.Ala128=) c.1353_1365delinsCCTGGTCTCGGCG (p.Ala451=) c.1350_1362delinsCCTGGTCTCGGCG (p.Ala450=) c.1413_1425delinsCCTGGTCTCGGCG (p.Ala471=) n.362_374delinsCCTGGTCTCGGCG c.402_414delinsCCTGGTCTCGGCG (p.Ala134=) c.1347_1359delinsCCTGGTCTCGGCG (p.Ala449=) c.1299_1311delinsCCTGGTCTCGGCG (p.Ala433=) n.730_742delinsCCTGGTCTCGGCG c.339_351delinsCCTGGTCTCGGCG (p.Ala113=) c.210_222delinsCCTGGTCTCGGCG (p.Ala70=) | |
7 | g.44145176_44145192del | CA2017997776 | GCK | c.*1344_*1360del (n.*1344_*1360del) c.*466_*482del (n.*466_*482del) n.572_588del c.380_396del (p.Ala127GlyfsTer4) c.1349_1365del (p.Ala450GlyfsTer4) c.1346_1362del (p.Ala449GlyfsTer4) c.1409_1425del (p.Ala470GlyfsTer4) n.358_374del c.1346_1362del (p.Ala449GlyfsTer17) c.398_414del (p.Ala133GlyfsTer4) c.1343_1359del (p.Ala448GlyfsTer4) c.1295_1311del (p.Ala432GlyfsTer4) n.726_742del c.335_351del (p.Ala112GlyfsTer4) c.206_222del (p.Ala69GlyfsTer17) c.206_222del (p.Ala69GlyfsTer4) | ClinVar |
7 | g.44145175_44145253del | CA1139660051 | GCK | c.*1282_*1360del (n.*1282_*1360del) c.*404_*482del (n.*404_*482del) n.510_588del c.318_396del (p.Arg107TrpfsTer?) c.1287_1365del (p.Arg430TrpfsTer?) c.1284_1362del (p.Arg429TrpfsTer?) c.1347_1425del (p.Arg450TrpfsTer?) n.296_374del c.1284_1362del (p.Arg429TrpfsTer9) c.336_414del (p.Arg113TrpfsTer?) c.1281_1359del (p.Arg428TrpfsTer?) c.1233_1311del (p.Arg412TrpfsTer?) n.664_742del c.273_351del (p.Arg92TrpfsTer?) c.144_222del (p.Arg49TrpfsTer9) c.144_222del (p.Arg49TrpfsTer?) | ClinVar dbSNP |
7 | g.44145173del | CA2695202948 | GCK | c.*1359del (n.*1359del) c.*481del (n.*481del) n.587del c.395del (p.Ala132GlyfsTer?) c.1364del (p.Ala455GlyfsTer?) c.1361del (p.Ala454GlyfsTer?) c.1424del (p.Ala475GlyfsTer?) n.373del c.1361del (p.Ala454GlyfsTer10) c.413del (p.Ala138GlyfsTer?) c.1358del (p.Ala453GlyfsTer?) c.1310del (p.Ala437GlyfsTer?) n.741del c.350del (p.Ala117GlyfsTer?) c.221del (p.Ala74GlyfsTer10) c.221del (p.Ala74GlyfsTer?) | |
7 | g.44145173G>A | CA367396861 | GCK | c.*1359C>T (n.*1359C>T) c.*481C>T (n.*481C>T) n.587C>T c.395C>T (p.Ala132Val) c.1364C>T (p.Ala455Val) c.1361C>T (p.Ala454Val) c.1424C>T (p.Ala475Val) n.373C>T c.413C>T (p.Ala138Val) c.1358C>T (p.Ala453Val) c.1310C>T (p.Ala437Val) n.741C>T c.350C>T (p.Ala117Val) c.221C>T (p.Ala74Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145173G>C | CA367396863 | GCK | c.*1359C>G (n.*1359C>G) c.*481C>G (n.*481C>G) n.587C>G c.395C>G (p.Ala132Gly) c.1364C>G (p.Ala455Gly) c.1361C>G (p.Ala454Gly) c.1424C>G (p.Ala475Gly) n.373C>G c.413C>G (p.Ala138Gly) c.1358C>G (p.Ala453Gly) c.1310C>G (p.Ala437Gly) n.741C>G c.350C>G (p.Ala117Gly) c.221C>G (p.Ala74Gly) | |
7 | g.44145173G= | CA1703612655 | GCK | c.*1359C= (n.*1359C=) c.*481C= (n.*481C=) n.587C= c.395C= (p.Ala132=) c.1364C= (p.Ala455=) c.1361C= (p.Ala454=) c.1424C= (p.Ala475=) n.373C= c.413C= (p.Ala138=) c.1358C= (p.Ala453=) c.1310C= (p.Ala437=) n.741C= c.350C= (p.Ala117=) c.221C= (p.Ala74=) | |
7 | g.44145173G>T | CA16609264 | GCK | c.*1359C>A (n.*1359C>A) c.*481C>A (n.*481C>A) n.587C>A c.395C>A (p.Ala132Glu) c.1364C>A (p.Ala455Glu) c.1361C>A (p.Ala454Glu) c.1424C>A (p.Ala475Glu) n.373C>A c.413C>A (p.Ala138Glu) c.1358C>A (p.Ala453Glu) c.1310C>A (p.Ala437Glu) n.741C>A c.350C>A (p.Ala117Glu) c.221C>A (p.Ala74Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145173_44145174delinsGC | CA1703612656 | GCK | c.*1358_*1359delinsGC (n.*1358_*1359delinsGC) c.*480_*481delinsGC (n.*480_*481delinsGC) n.586_587delinsGC c.394_395delinsGC (p.Ala132=) c.1363_1364delinsGC (p.Ala455=) c.1360_1361delinsGC (p.Ala454=) c.1423_1424delinsGC (p.Ala475=) n.372_373delinsGC c.412_413delinsGC (p.Ala138=) c.1357_1358delinsGC (p.Ala453=) c.1309_1310delinsGC (p.Ala437=) n.740_741delinsGC c.349_350delinsGC (p.Ala117=) c.220_221delinsGC (p.Ala74=) | |
7 | g.44145177_44145188del | CA915944914 | GCK | c.*1348_*1359del (n.*1348_*1359del) c.*470_*481del (n.*470_*481del) n.576_587del c.384_395del (p.Leu129_Ala132del) c.1353_1364del (p.Leu452_Ala455del) c.1350_1361del (p.Leu451_Ala454del) c.1413_1424del (p.Leu472_Ala475del) n.362_373del c.402_413del (p.Leu135_Ala138del) c.1347_1358del (p.Leu450_Ala453del) c.1299_1310del (p.Leu434_Ala437del) n.730_741del c.339_350del (p.Leu114_Ala117del) c.210_221del (p.Leu71_Ala74del) | ClinVar dbSNP |
7 | g.44145174C>A | CA367396870 | GCK | c.*1358G>T (n.*1358G>T) c.*480G>T (n.*480G>T) n.586G>T c.394G>T (p.Ala132Ser) c.1363G>T (p.Ala455Ser) c.1360G>T (p.Ala454Ser) c.1423G>T (p.Ala475Ser) n.372G>T c.412G>T (p.Ala138Ser) c.1357G>T (p.Ala453Ser) c.1309G>T (p.Ala437Ser) n.740G>T c.349G>T (p.Ala117Ser) c.220G>T (p.Ala74Ser) | |
7 | g.44145174C>G | CA367396868 | GCK | c.*1358G>C (n.*1358G>C) c.*480G>C (n.*480G>C) n.586G>C c.394G>C (p.Ala132Pro) c.1363G>C (p.Ala455Pro) c.1360G>C (p.Ala454Pro) c.1423G>C (p.Ala475Pro) n.372G>C c.412G>C (p.Ala138Pro) c.1357G>C (p.Ala453Pro) c.1309G>C (p.Ala437Pro) n.740G>C c.349G>C (p.Ala117Pro) c.220G>C (p.Ala74Pro) | |
7 | g.44145174C>T | CA367396867 | GCK | c.*1358G>A (n.*1358G>A) c.*480G>A (n.*480G>A) n.586G>A c.394G>A (p.Ala132Thr) c.1363G>A (p.Ala455Thr) c.1360G>A (p.Ala454Thr) c.1423G>A (p.Ala475Thr) n.372G>A c.412G>A (p.Ala138Thr) c.1357G>A (p.Ala453Thr) c.1309G>A (p.Ala437Thr) n.740G>A c.349G>A (p.Ala117Thr) c.220G>A (p.Ala74Thr) | |
7 | g.44145175del | CA915944915 | GCK | c.*1358del (n.*1358del) c.*480del (n.*480del) n.586del c.394del (p.Ala132ArgfsTer?) c.1363del (p.Ala455ArgfsTer?) c.1360del (p.Ala454ArgfsTer?) c.1423del (p.Ala475ArgfsTer?) n.372del c.1360del (p.Ala454ArgfsTer10) c.412del (p.Ala138ArgfsTer?) c.1357del (p.Ala453ArgfsTer?) c.1309del (p.Ala437ArgfsTer?) n.740del c.349del (p.Ala117ArgfsTer?) c.220del (p.Ala74ArgfsTer10) c.220del (p.Ala74ArgfsTer?) | ClinVar dbSNP gnomAD v4 |
7 | g.44145175C>A | CA4239374 | GCK | c.*1357G>T (n.*1357G>T) c.*479G>T (n.*479G>T) n.585G>T c.393G>T (p.Ser131=) c.1362G>T (p.Ser454=) c.1359G>T (p.Ser453=) c.1422G>T (p.Ser474=) n.371G>T c.411G>T (p.Ser137=) c.1356G>T (p.Ser452=) c.1308G>T (p.Ser436=) n.739G>T c.348G>T (p.Ser116=) c.219G>T (p.Ser73=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44145175C= | CA1703612658 | GCK | c.*1357G= (n.*1357G=) c.*479G= (n.*479G=) n.585G= c.393G= (p.Ser131=) c.1362G= (p.Ser454=) c.1359G= (p.Ser453=) c.1422G= (p.Ser474=) n.371G= c.411G= (p.Ser137=) c.1356G= (p.Ser452=) c.1308G= (p.Ser436=) n.739G= c.348G= (p.Ser116=) c.219G= (p.Ser73=) | |
7 | g.44145175C>G | CA454606348 | GCK | c.*1357G>C (n.*1357G>C) c.*479G>C (n.*479G>C) n.585G>C c.393G>C (p.Ser131=) c.1362G>C (p.Ser454=) c.1359G>C (p.Ser453=) c.1422G>C (p.Ser474=) n.371G>C c.411G>C (p.Ser137=) c.1356G>C (p.Ser452=) c.1308G>C (p.Ser436=) n.739G>C c.348G>C (p.Ser116=) c.219G>C (p.Ser73=) | gnomAD v4 |
7 | g.44145175C>T | CA454606349 | GCK | c.*1357G>A (n.*1357G>A) c.*479G>A (n.*479G>A) n.585G>A c.393G>A (p.Ser131=) c.1362G>A (p.Ser454=) c.1359G>A (p.Ser453=) c.1422G>A (p.Ser474=) n.371G>A c.411G>A (p.Ser137=) c.1356G>A (p.Ser452=) c.1308G>A (p.Ser436=) n.739G>A c.348G>A (p.Ser116=) c.219G>A (p.Ser73=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145175_44145255delinsCGAGACCAGGGCCGCGCCCCGGCCACTGCCCTCCTCCGACTCGATGAAGGTGATCTCGCAGCTGGGCGTCAGCCTGCGCAC | CA1703612657 | GCK | c.*1277_*1357delinsGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCG (n.*1277_*1357delinsGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCG) c.*399_*479delinsGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCG (n.*399_*479delinsGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCG) n.505_585delinsGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCG c.313_393delinsGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCG (p.Val105=) c.1282_1362delinsGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCG (p.Val428=) c.1279_1359delinsGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCG (p.Val427=) c.1342_1422delinsGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCG (p.Val448=) n.291_371delinsGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCG c.331_411delinsGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCG (p.Val111=) c.1276_1356delinsGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCG (p.Val426=) c.1228_1308delinsGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCG (p.Val410=) n.659_739delinsGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCG c.268_348delinsGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCG (p.Val90=) c.139_219delinsGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCG (p.Val47=) | |
7 | g.44145176G>A | CA213760 | GCK | c.*1356C>T (n.*1356C>T) c.*478C>T (n.*478C>T) n.584C>T c.392C>T (p.Ser131Leu) c.1361C>T (p.Ser454Leu) c.1358C>T (p.Ser453Leu) c.1421C>T (p.Ser474Leu) n.370C>T c.410C>T (p.Ser137Leu) c.1355C>T (p.Ser452Leu) c.1307C>T (p.Ser436Leu) n.738C>T c.347C>T (p.Ser116Leu) c.218C>T (p.Ser73Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145176G>C | CA367396875 | GCK | c.*1356C>G (n.*1356C>G) c.*478C>G (n.*478C>G) n.584C>G c.392C>G (p.Ser131Trp) c.1361C>G (p.Ser454Trp) c.1358C>G (p.Ser453Trp) c.1421C>G (p.Ser474Trp) n.370C>G c.410C>G (p.Ser137Trp) c.1355C>G (p.Ser452Trp) c.1307C>G (p.Ser436Trp) n.738C>G c.347C>G (p.Ser116Trp) c.218C>G (p.Ser73Trp) | ClinVar |
7 | g.44145176G= | CA1703612659 | GCK | c.*1356C= (n.*1356C=) c.*478C= (n.*478C=) n.584C= c.392C= (p.Ser131=) c.1361C= (p.Ser454=) c.1358C= (p.Ser453=) c.1421C= (p.Ser474=) n.370C= c.410C= (p.Ser137=) c.1355C= (p.Ser452=) c.1307C= (p.Ser436=) n.738C= c.347C= (p.Ser116=) c.218C= (p.Ser73=) | |
7 | g.44145176G>T | CA367396876 | GCK | c.*1356C>A (n.*1356C>A) c.*478C>A (n.*478C>A) n.584C>A c.392C>A (p.Ser131Ter) c.1361C>A (p.Ser454Ter) c.1358C>A (p.Ser453Ter) c.1421C>A (p.Ser474Ter) n.370C>A c.410C>A (p.Ser137Ter) c.1355C>A (p.Ser452Ter) c.1307C>A (p.Ser436Ter) n.738C>A c.347C>A (p.Ser116Ter) c.218C>A (p.Ser73Ter) | ClinVar gnomAD v4 |
7 | g.44145176_44145255delinsTGTAA | CA213742 | GCK | c.*1277_*1356delinsTTACA (n.*1277_*1356delinsTTACA) c.*399_*478delinsTTACA (n.*399_*478delinsTTACA) n.505_584delinsTTACA c.313_392delinsTTACA (p.Val105_Ser131delinsLeuGln) c.1282_1361delinsTTACA (p.Val428_Ser454delinsLeuGln) c.1279_1358delinsTTACA (p.Val427_Ser453delinsLeuGln) c.1342_1421delinsTTACA (p.Val448_Ser474delinsLeuGln) n.291_370delinsTTACA c.331_410delinsTTACA (p.Val111_Ser137delinsLeuGln) c.1276_1355delinsTTACA (p.Val426_Ser452delinsLeuGln) c.1228_1307delinsTTACA (p.Val410_Ser436delinsLeuGln) n.659_738delinsTTACA c.268_347delinsTTACA (p.Val90_Ser116delinsLeuGln) c.139_218delinsTTACA (p.Val47_Ser73delinsLeuGln) | ClinVar dbSNP |
7 | g.44145177A>C | CA367396877 | GCK | c.*1355T>G (n.*1355T>G) c.*477T>G (n.*477T>G) n.583T>G c.391T>G (p.Ser131Ala) c.1360T>G (p.Ser454Ala) c.1357T>G (p.Ser453Ala) c.1420T>G (p.Ser474Ala) n.369T>G c.409T>G (p.Ser137Ala) c.1354T>G (p.Ser452Ala) c.1306T>G (p.Ser436Ala) n.737T>G c.346T>G (p.Ser116Ala) c.217T>G (p.Ser73Ala) | |
7 | g.44145177A>G | CA367396879 | GCK | c.*1355T>C (n.*1355T>C) c.*477T>C (n.*477T>C) n.583T>C c.391T>C (p.Ser131Pro) c.1360T>C (p.Ser454Pro) c.1357T>C (p.Ser453Pro) c.1420T>C (p.Ser474Pro) n.369T>C c.409T>C (p.Ser137Pro) c.1354T>C (p.Ser452Pro) c.1306T>C (p.Ser436Pro) n.737T>C c.346T>C (p.Ser116Pro) c.217T>C (p.Ser73Pro) | |
7 | g.44145177A>T | CA367396880 | GCK | c.*1355T>A (n.*1355T>A) c.*477T>A (n.*477T>A) n.583T>A c.391T>A (p.Ser131Thr) c.1360T>A (p.Ser454Thr) c.1357T>A (p.Ser453Thr) c.1420T>A (p.Ser474Thr) n.369T>A c.409T>A (p.Ser137Thr) c.1354T>A (p.Ser452Thr) c.1306T>A (p.Ser436Thr) n.737T>A c.346T>A (p.Ser116Thr) c.217T>A (p.Ser73Thr) | |
7 | g.44145178G>A | CA454606350 | GCK | c.*1354C>T (n.*1354C>T) c.*476C>T (n.*476C>T) n.582C>T c.390C>T (p.Val130=) c.1359C>T (p.Val453=) c.1356C>T (p.Val452=) c.1419C>T (p.Val473=) n.368C>T c.408C>T (p.Val136=) c.1353C>T (p.Val451=) c.1305C>T (p.Val435=) n.736C>T c.345C>T (p.Val115=) c.216C>T (p.Val72=) | |
7 | g.44145178G>C | CA454606351 | GCK | c.*1354C>G (n.*1354C>G) c.*476C>G (n.*476C>G) n.582C>G c.390C>G (p.Val130=) c.1359C>G (p.Val453=) c.1356C>G (p.Val452=) c.1419C>G (p.Val473=) n.368C>G c.408C>G (p.Val136=) c.1353C>G (p.Val451=) c.1305C>G (p.Val435=) n.736C>G c.345C>G (p.Val115=) c.216C>G (p.Val72=) | gnomAD v4 |
7 | g.44145178G>T | CA454606352 | GCK | c.*1354C>A (n.*1354C>A) c.*476C>A (n.*476C>A) n.582C>A c.390C>A (p.Val130=) c.1359C>A (p.Val453=) c.1356C>A (p.Val452=) c.1419C>A (p.Val473=) n.368C>A c.408C>A (p.Val136=) c.1353C>A (p.Val451=) c.1305C>A (p.Val435=) n.736C>A c.345C>A (p.Val115=) c.216C>A (p.Val72=) | gnomAD v4 |
7 | g.44145179A>C | CA367396882 | GCK | c.*1353T>G (n.*1353T>G) c.*475T>G (n.*475T>G) n.581T>G c.389T>G (p.Val130Gly) c.1358T>G (p.Val453Gly) c.1355T>G (p.Val452Gly) c.1418T>G (p.Val473Gly) n.367T>G c.407T>G (p.Val136Gly) c.1352T>G (p.Val451Gly) c.1304T>G (p.Val435Gly) n.735T>G c.344T>G (p.Val115Gly) c.215T>G (p.Val72Gly) | |
7 | g.44145179A>G | CA367396885 | GCK | c.*1353T>C (n.*1353T>C) c.*475T>C (n.*475T>C) n.581T>C c.389T>C (p.Val130Ala) c.1358T>C (p.Val453Ala) c.1355T>C (p.Val452Ala) c.1418T>C (p.Val473Ala) n.367T>C c.407T>C (p.Val136Ala) c.1352T>C (p.Val451Ala) c.1304T>C (p.Val435Ala) n.735T>C c.344T>C (p.Val115Ala) c.215T>C (p.Val72Ala) | |
7 | g.44145179A>T | CA367396887 | GCK | c.*1353T>A (n.*1353T>A) c.*475T>A (n.*475T>A) n.581T>A c.389T>A (p.Val130Asp) c.1358T>A (p.Val453Asp) c.1355T>A (p.Val452Asp) c.1418T>A (p.Val473Asp) n.367T>A c.407T>A (p.Val136Asp) c.1352T>A (p.Val451Asp) c.1304T>A (p.Val435Asp) n.735T>A c.344T>A (p.Val115Asp) c.215T>A (p.Val72Asp) | |
7 | g.44145180C>A | CA367396889 | GCK | c.*1352G>T (n.*1352G>T) c.*474G>T (n.*474G>T) n.580G>T c.388G>T (p.Val130Phe) c.1357G>T (p.Val453Phe) c.1354G>T (p.Val452Phe) c.1417G>T (p.Val473Phe) n.366G>T c.406G>T (p.Val136Phe) c.1351G>T (p.Val451Phe) c.1303G>T (p.Val435Phe) n.734G>T c.343G>T (p.Val115Phe) c.214G>T (p.Val72Phe) | |
7 | g.44145180C>G | CA367396891 | GCK | c.*1352G>C (n.*1352G>C) c.*474G>C (n.*474G>C) n.580G>C c.388G>C (p.Val130Leu) c.1357G>C (p.Val453Leu) c.1354G>C (p.Val452Leu) c.1417G>C (p.Val473Leu) n.366G>C c.406G>C (p.Val136Leu) c.1351G>C (p.Val451Leu) c.1303G>C (p.Val435Leu) n.734G>C c.343G>C (p.Val115Leu) c.214G>C (p.Val72Leu) | ClinVar |
7 | g.44145180C>T | CA367396892 | GCK | c.*1352G>A (n.*1352G>A) c.*474G>A (n.*474G>A) n.580G>A c.388G>A (p.Val130Ile) c.1357G>A (p.Val453Ile) c.1354G>A (p.Val452Ile) c.1417G>A (p.Val473Ile) n.366G>A c.406G>A (p.Val136Ile) c.1351G>A (p.Val451Ile) c.1303G>A (p.Val435Ile) n.734G>A c.343G>A (p.Val115Ile) c.214G>A (p.Val72Ile) | gnomAD v4 |
7 | g.44145181C>A | CA454606353 | GCK | c.*1351G>T (n.*1351G>T) c.*473G>T (n.*473G>T) n.579G>T c.387G>T (p.Leu129=) c.1356G>T (p.Leu452=) c.1353G>T (p.Leu451=) c.1416G>T (p.Leu472=) n.365G>T c.405G>T (p.Leu135=) c.1350G>T (p.Leu450=) c.1302G>T (p.Leu434=) n.733G>T c.342G>T (p.Leu114=) c.213G>T (p.Leu71=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145181C= | CA1703612660 | GCK | c.*1351G= (n.*1351G=) c.*473G= (n.*473G=) n.579G= c.387G= (p.Leu129=) c.1356G= (p.Leu452=) c.1353G= (p.Leu451=) c.1416G= (p.Leu472=) n.365G= c.405G= (p.Leu135=) c.1350G= (p.Leu450=) c.1302G= (p.Leu434=) n.733G= c.342G= (p.Leu114=) c.213G= (p.Leu71=) | |
7 | g.44145181C>G | CA454606354 | GCK | c.*1351G>C (n.*1351G>C) c.*473G>C (n.*473G>C) n.579G>C c.387G>C (p.Leu129=) c.1356G>C (p.Leu452=) c.1353G>C (p.Leu451=) c.1416G>C (p.Leu472=) n.365G>C c.405G>C (p.Leu135=) c.1350G>C (p.Leu450=) c.1302G>C (p.Leu434=) n.733G>C c.342G>C (p.Leu114=) c.213G>C (p.Leu71=) | |
7 | g.44145181C>T | CA454606355 | GCK | c.*1351G>A (n.*1351G>A) c.*473G>A (n.*473G>A) n.579G>A c.387G>A (p.Leu129=) c.1356G>A (p.Leu452=) c.1353G>A (p.Leu451=) c.1416G>A (p.Leu472=) n.365G>A c.405G>A (p.Leu135=) c.1350G>A (p.Leu450=) c.1302G>A (p.Leu434=) n.733G>A c.342G>A (p.Leu114=) c.213G>A (p.Leu71=) | |
7 | g.44145182del | CA2682580402 | GCK | c.*1350del (n.*1350del) c.*472del (n.*472del) n.578del c.386del (p.Leu129ArgfsTer?) c.1355del (p.Leu452ArgfsTer?) c.1352del (p.Leu451ArgfsTer?) c.1415del (p.Leu472ArgfsTer?) n.364del c.1352del (p.Leu451ArgfsTer13) c.404del (p.Leu135ArgfsTer?) c.1349del (p.Leu450ArgfsTer?) c.1301del (p.Leu434ArgfsTer?) n.732del c.341del (p.Leu114ArgfsTer?) c.212del (p.Leu71ArgfsTer13) c.212del (p.Leu71ArgfsTer?) | gnomAD v4 |
7 | g.44145182A>C | CA367396897 | GCK | c.*1350T>G (n.*1350T>G) c.*472T>G (n.*472T>G) n.578T>G c.386T>G (p.Leu129Arg) c.1355T>G (p.Leu452Arg) c.1352T>G (p.Leu451Arg) c.1415T>G (p.Leu472Arg) n.364T>G c.404T>G (p.Leu135Arg) c.1349T>G (p.Leu450Arg) c.1301T>G (p.Leu434Arg) n.732T>G c.341T>G (p.Leu114Arg) c.212T>G (p.Leu71Arg) | |
7 | g.44145182A>G | CA367396898 | GCK | c.*1350T>C (n.*1350T>C) c.*472T>C (n.*472T>C) n.578T>C c.386T>C (p.Leu129Pro) c.1355T>C (p.Leu452Pro) c.1352T>C (p.Leu451Pro) c.1415T>C (p.Leu472Pro) n.364T>C c.404T>C (p.Leu135Pro) c.1349T>C (p.Leu450Pro) c.1301T>C (p.Leu434Pro) n.732T>C c.341T>C (p.Leu114Pro) c.212T>C (p.Leu71Pro) | |
7 | g.44145182A>T | CA367396895 | GCK | c.*1350T>A (n.*1350T>A) c.*472T>A (n.*472T>A) n.578T>A c.386T>A (p.Leu129Gln) c.1355T>A (p.Leu452Gln) c.1352T>A (p.Leu451Gln) c.1415T>A (p.Leu472Gln) n.364T>A c.404T>A (p.Leu135Gln) c.1349T>A (p.Leu450Gln) c.1301T>A (p.Leu434Gln) n.732T>A c.341T>A (p.Leu114Gln) c.212T>A (p.Leu71Gln) | |
7 | g.44145183G>A | CA454606356 | GCK | c.*1349C>T (n.*1349C>T) c.*471C>T (n.*471C>T) n.577C>T c.385C>T (p.Leu129=) c.1354C>T (p.Leu452=) c.1351C>T (p.Leu451=) c.1414C>T (p.Leu472=) n.363C>T c.403C>T (p.Leu135=) c.1348C>T (p.Leu450=) c.1300C>T (p.Leu434=) n.731C>T c.340C>T (p.Leu114=) c.211C>T (p.Leu71=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44145183G>C | CA367396900 | GCK | c.*1349C>G (n.*1349C>G) c.*471C>G (n.*471C>G) n.577C>G c.385C>G (p.Leu129Val) c.1354C>G (p.Leu452Val) c.1351C>G (p.Leu451Val) c.1414C>G (p.Leu472Val) n.363C>G c.403C>G (p.Leu135Val) c.1348C>G (p.Leu450Val) c.1300C>G (p.Leu434Val) n.731C>G c.340C>G (p.Leu114Val) c.211C>G (p.Leu71Val) | |
7 | g.44145183G= | CA1703612661 | GCK | c.*1349C= (n.*1349C=) c.*471C= (n.*471C=) n.577C= c.385C= (p.Leu129=) c.1354C= (p.Leu452=) c.1351C= (p.Leu451=) c.1414C= (p.Leu472=) n.363C= c.403C= (p.Leu135=) c.1348C= (p.Leu450=) c.1300C= (p.Leu434=) n.731C= c.340C= (p.Leu114=) c.211C= (p.Leu71=) | |
7 | g.44145183G>T | CA367396901 | GCK | c.*1349C>A (n.*1349C>A) c.*471C>A (n.*471C>A) n.577C>A c.385C>A (p.Leu129Met) c.1354C>A (p.Leu452Met) c.1351C>A (p.Leu451Met) c.1414C>A (p.Leu472Met) n.363C>A c.403C>A (p.Leu135Met) c.1348C>A (p.Leu450Met) c.1300C>A (p.Leu434Met) n.731C>A c.340C>A (p.Leu114Met) c.211C>A (p.Leu71Met) | |
7 | g.44145185del | CA2017997778 | GCK | c.*1349del (n.*1349del) c.*471del (n.*471del) n.577del c.385del (p.Leu129TrpfsTer?) c.1354del (p.Leu452TrpfsTer?) c.1351del (p.Leu451TrpfsTer?) c.1414del (p.Leu472TrpfsTer?) n.363del c.1351del (p.Leu451TrpfsTer13) c.403del (p.Leu135TrpfsTer?) c.1348del (p.Leu450TrpfsTer?) c.1300del (p.Leu434TrpfsTer?) n.731del c.340del (p.Leu114TrpfsTer?) c.211del (p.Leu71TrpfsTer13) c.211del (p.Leu71TrpfsTer?) | ClinVar |
7 | g.44145184G>A | CA454606357 | GCK | c.*1348C>T (n.*1348C>T) c.*470C>T (n.*470C>T) n.576C>T c.384C>T (p.Ala128=) c.1353C>T (p.Ala451=) c.1350C>T (p.Ala450=) c.1413C>T (p.Ala471=) n.362C>T c.402C>T (p.Ala134=) c.1347C>T (p.Ala449=) c.1299C>T (p.Ala433=) n.730C>T c.339C>T (p.Ala113=) c.210C>T (p.Ala70=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.44145184G>C | CA454606358 | GCK | c.*1348C>G (n.*1348C>G) c.*470C>G (n.*470C>G) n.576C>G c.384C>G (p.Ala128=) c.1353C>G (p.Ala451=) c.1350C>G (p.Ala450=) c.1413C>G (p.Ala471=) n.362C>G c.402C>G (p.Ala134=) c.1347C>G (p.Ala449=) c.1299C>G (p.Ala433=) n.730C>G c.339C>G (p.Ala113=) c.210C>G (p.Ala70=) | |
7 | g.44145184G= | CA1703612662 | GCK | c.*1348C= (n.*1348C=) c.*470C= (n.*470C=) n.576C= c.384C= (p.Ala128=) c.1353C= (p.Ala451=) c.1350C= (p.Ala450=) c.1413C= (p.Ala471=) n.362C= c.402C= (p.Ala134=) c.1347C= (p.Ala449=) c.1299C= (p.Ala433=) n.730C= c.339C= (p.Ala113=) c.210C= (p.Ala70=) | |
7 | g.44145184G>T | CA454606359 | GCK | c.*1348C>A (n.*1348C>A) c.*470C>A (n.*470C>A) n.576C>A c.384C>A (p.Ala128=) c.1353C>A (p.Ala451=) c.1350C>A (p.Ala450=) c.1413C>A (p.Ala471=) n.362C>A c.402C>A (p.Ala134=) c.1347C>A (p.Ala449=) c.1299C>A (p.Ala433=) n.730C>A c.339C>A (p.Ala113=) c.210C>A (p.Ala70=) | |
7 | g.44145185G>A | CA367396903 | GCK | c.*1347C>T (n.*1347C>T) c.*469C>T (n.*469C>T) n.575C>T c.383C>T (p.Ala128Val) c.1352C>T (p.Ala451Val) c.1349C>T (p.Ala450Val) c.1412C>T (p.Ala471Val) n.361C>T c.401C>T (p.Ala134Val) c.1346C>T (p.Ala449Val) c.1298C>T (p.Ala433Val) n.729C>T c.338C>T (p.Ala113Val) c.209C>T (p.Ala70Val) | ClinVar |
7 | g.44145185G>C | CA367396905 | GCK | c.*1347C>G (n.*1347C>G) c.*469C>G (n.*469C>G) n.575C>G c.383C>G (p.Ala128Gly) c.1352C>G (p.Ala451Gly) c.1349C>G (p.Ala450Gly) c.1412C>G (p.Ala471Gly) n.361C>G c.401C>G (p.Ala134Gly) c.1346C>G (p.Ala449Gly) c.1298C>G (p.Ala433Gly) n.729C>G c.338C>G (p.Ala113Gly) c.209C>G (p.Ala70Gly) | |
7 | g.44145185G>T | CA367396907 | GCK | c.*1347C>A (n.*1347C>A) c.*469C>A (n.*469C>A) n.575C>A c.383C>A (p.Ala128Asp) c.1352C>A (p.Ala451Asp) c.1349C>A (p.Ala450Asp) c.1412C>A (p.Ala471Asp) n.361C>A c.401C>A (p.Ala134Asp) c.1346C>A (p.Ala449Asp) c.1298C>A (p.Ala433Asp) n.729C>A c.338C>A (p.Ala113Asp) c.209C>A (p.Ala70Asp) | |
7 | g.44145186C>A | CA367396909 | GCK | c.*1346G>T (n.*1346G>T) c.*468G>T (n.*468G>T) n.574G>T c.382G>T (p.Ala128Ser) c.1351G>T (p.Ala451Ser) c.1348G>T (p.Ala450Ser) c.1411G>T (p.Ala471Ser) n.360G>T c.400G>T (p.Ala134Ser) c.1345G>T (p.Ala449Ser) c.1297G>T (p.Ala433Ser) n.728G>T c.337G>T (p.Ala113Ser) c.208G>T (p.Ala70Ser) | ClinVar |
7 | g.44145186C>G | CA367396911 | GCK | c.*1346G>C (n.*1346G>C) c.*468G>C (n.*468G>C) n.574G>C c.382G>C (p.Ala128Pro) c.1351G>C (p.Ala451Pro) c.1348G>C (p.Ala450Pro) c.1411G>C (p.Ala471Pro) n.360G>C c.400G>C (p.Ala134Pro) c.1345G>C (p.Ala449Pro) c.1297G>C (p.Ala433Pro) n.728G>C c.337G>C (p.Ala113Pro) c.208G>C (p.Ala70Pro) | |
7 | g.44145186C>T | CA367396913 | GCK | c.*1346G>A (n.*1346G>A) c.*468G>A (n.*468G>A) n.574G>A c.382G>A (p.Ala128Thr) c.1351G>A (p.Ala451Thr) c.1348G>A (p.Ala450Thr) c.1411G>A (p.Ala471Thr) n.360G>A c.400G>A (p.Ala134Thr) c.1345G>A (p.Ala449Thr) c.1297G>A (p.Ala433Thr) n.728G>A c.337G>A (p.Ala113Thr) c.208G>A (p.Ala70Thr) | |
7 | g.44145187del | CA2017997777 | GCK | c.*1346del (n.*1346del) c.*468del (n.*468del) n.574del c.382del (p.Ala128ProfsTer?) c.1351del (p.Ala451ProfsTer?) c.1348del (p.Ala450ProfsTer?) c.1411del (p.Ala471ProfsTer?) n.360del c.1348del (p.Ala450ProfsTer14) c.400del (p.Ala134ProfsTer?) c.1345del (p.Ala449ProfsTer?) c.1297del (p.Ala433ProfsTer?) n.728del c.337del (p.Ala113ProfsTer?) c.208del (p.Ala70ProfsTer14) c.208del (p.Ala70ProfsTer?) | ClinVar |
7 | g.44145187C>A | CA454606361 | GCK | c.*1345G>T (n.*1345G>T) c.*467G>T (n.*467G>T) n.573G>T c.381G>T (p.Ala127=) c.1350G>T (p.Ala450=) c.1347G>T (p.Ala449=) c.1410G>T (p.Ala470=) n.359G>T c.399G>T (p.Ala133=) c.1344G>T (p.Ala448=) c.1296G>T (p.Ala432=) n.727G>T c.336G>T (p.Ala112=) c.207G>T (p.Ala69=) | |
7 | g.44145187C= | CA1703612663 | GCK | c.*1345G= (n.*1345G=) c.*467G= (n.*467G=) n.573G= c.381G= (p.Ala127=) c.1350G= (p.Ala450=) c.1347G= (p.Ala449=) c.1410G= (p.Ala470=) n.359G= c.399G= (p.Ala133=) c.1344G= (p.Ala448=) c.1296G= (p.Ala432=) n.727G= c.336G= (p.Ala112=) c.207G= (p.Ala69=) | |
7 | g.44145187C>G | CA454606362 | GCK | c.*1345G>C (n.*1345G>C) c.*467G>C (n.*467G>C) n.573G>C c.381G>C (p.Ala127=) c.1350G>C (p.Ala450=) c.1347G>C (p.Ala449=) c.1410G>C (p.Ala470=) n.359G>C c.399G>C (p.Ala133=) c.1344G>C (p.Ala448=) c.1296G>C (p.Ala432=) n.727G>C c.336G>C (p.Ala112=) c.207G>C (p.Ala69=) | |
7 | g.44145187C>T | CA454606363 | GCK | c.*1345G>A (n.*1345G>A) c.*467G>A (n.*467G>A) n.573G>A c.381G>A (p.Ala127=) c.1350G>A (p.Ala450=) c.1347G>A (p.Ala449=) c.1410G>A (p.Ala470=) n.359G>A c.399G>A (p.Ala133=) c.1344G>A (p.Ala448=) c.1296G>A (p.Ala432=) n.727G>A c.336G>A (p.Ala112=) c.207G>A (p.Ala69=) | dbSNP gnomAD v4 |
7 | g.44145190_44145191dup | CA2695202951 | GCK | c.*1344_*1345dup (n.*1344_*1345dup) c.*466_*467dup (n.*466_*467dup) n.572_573dup c.380_381dup (p.Ala128ArgfsTer?) c.1349_1350dup (p.Ala451ArgfsTer?) c.1346_1347dup (p.Ala450ArgfsTer?) c.1409_1410dup (p.Ala471ArgfsTer?) n.358_359dup c.1346_1347dup (p.Ala450ArgfsTer15) c.398_399dup (p.Ala134ArgfsTer?) c.1343_1344dup (p.Ala449ArgfsTer?) c.1295_1296dup (p.Ala433ArgfsTer?) n.726_727dup c.335_336dup (p.Ala113ArgfsTer?) c.206_207dup (p.Ala70ArgfsTer15) c.206_207dup (p.Ala70ArgfsTer?) | |
7 | g.44145190_44145191del | CA2573105963 | GCK | c.*1344_*1345del (n.*1344_*1345del) c.*466_*467del (n.*466_*467del) n.572_573del c.380_381del (p.Ala127GlyfsTer9) c.1349_1350del (p.Ala450GlyfsTer9) c.1346_1347del (p.Ala449GlyfsTer9) c.1409_1410del (p.Ala470GlyfsTer9) n.358_359del c.1346_1347del (p.Ala449GlyfsTer22) c.398_399del (p.Ala133GlyfsTer9) c.1343_1344del (p.Ala448GlyfsTer9) c.1295_1296del (p.Ala432GlyfsTer9) n.726_727del c.335_336del (p.Ala112GlyfsTer9) c.206_207del (p.Ala69GlyfsTer22) c.206_207del (p.Ala69GlyfsTer9) | ClinVar |
7 | g.44145188G>A | CA367396916 | GCK | c.*1344C>T (n.*1344C>T) c.*466C>T (n.*466C>T) n.572C>T c.380C>T (p.Ala127Val) c.1349C>T (p.Ala450Val) c.1346C>T (p.Ala449Val) c.1409C>T (p.Ala470Val) n.358C>T c.398C>T (p.Ala133Val) c.1343C>T (p.Ala448Val) c.1295C>T (p.Ala432Val) n.726C>T c.335C>T (p.Ala112Val) c.206C>T (p.Ala69Val) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145188G>C | CA367396917 | GCK | c.*1344C>G (n.*1344C>G) c.*466C>G (n.*466C>G) n.572C>G c.380C>G (p.Ala127Gly) c.1349C>G (p.Ala450Gly) c.1346C>G (p.Ala449Gly) c.1409C>G (p.Ala470Gly) n.358C>G c.398C>G (p.Ala133Gly) c.1343C>G (p.Ala448Gly) c.1295C>G (p.Ala432Gly) n.726C>G c.335C>G (p.Ala112Gly) c.206C>G (p.Ala69Gly) | gnomAD v4 |
7 | g.44145188G= | CA1703612664 | GCK | c.*1344C= (n.*1344C=) c.*466C= (n.*466C=) n.572C= c.380C= (p.Ala127=) c.1349C= (p.Ala450=) c.1346C= (p.Ala449=) c.1409C= (p.Ala470=) n.358C= c.398C= (p.Ala133=) c.1343C= (p.Ala448=) c.1295C= (p.Ala432=) n.726C= c.335C= (p.Ala112=) c.206C= (p.Ala69=) | |
7 | g.44145188G>T | CA367396919 | GCK | c.*1344C>A (n.*1344C>A) c.*466C>A (n.*466C>A) n.572C>A c.380C>A (p.Ala127Glu) c.1349C>A (p.Ala450Glu) c.1346C>A (p.Ala449Glu) c.1409C>A (p.Ala470Glu) n.358C>A c.398C>A (p.Ala133Glu) c.1343C>A (p.Ala448Glu) c.1295C>A (p.Ala432Glu) n.726C>A c.335C>A (p.Ala112Glu) c.206C>A (p.Ala69Glu) | gnomAD v4 |
7 | g.44145189C>A | CA367396925 | GCK | c.*1343G>T (n.*1343G>T) c.*465G>T (n.*465G>T) n.571G>T c.379G>T (p.Ala127Ser) c.1348G>T (p.Ala450Ser) c.1345G>T (p.Ala449Ser) c.1408G>T (p.Ala470Ser) n.357G>T c.397G>T (p.Ala133Ser) c.1342G>T (p.Ala448Ser) c.1294G>T (p.Ala432Ser) n.725G>T c.334G>T (p.Ala112Ser) c.205G>T (p.Ala69Ser) | ClinVar |
7 | g.44145189C= | CA1703612665 | GCK | c.*1343G= (n.*1343G=) c.*465G= (n.*465G=) n.571G= c.379G= (p.Ala127=) c.1348G= (p.Ala450=) c.1345G= (p.Ala449=) c.1408G= (p.Ala470=) n.357G= c.397G= (p.Ala133=) c.1342G= (p.Ala448=) c.1294G= (p.Ala432=) n.725G= c.334G= (p.Ala112=) c.205G= (p.Ala69=) | |
7 | g.44145189C>G | CA367396923 | GCK | c.*1343G>C (n.*1343G>C) c.*465G>C (n.*465G>C) n.571G>C c.379G>C (p.Ala127Pro) c.1348G>C (p.Ala450Pro) c.1345G>C (p.Ala449Pro) c.1408G>C (p.Ala470Pro) n.357G>C c.397G>C (p.Ala133Pro) c.1342G>C (p.Ala448Pro) c.1294G>C (p.Ala432Pro) n.725G>C c.334G>C (p.Ala112Pro) c.205G>C (p.Ala69Pro) | |
7 | g.44145189C>T | CA213758 | GCK | c.*1343G>A (n.*1343G>A) c.*465G>A (n.*465G>A) n.571G>A c.379G>A (p.Ala127Thr) c.1348G>A (p.Ala450Thr) c.1345G>A (p.Ala449Thr) c.1408G>A (p.Ala470Thr) n.357G>A c.397G>A (p.Ala133Thr) c.1342G>A (p.Ala448Thr) c.1294G>A (p.Ala432Thr) n.725G>A c.334G>A (p.Ala112Thr) c.205G>A (p.Ala69Thr) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
7 | g.44145189_44145190delinsCG | CA1703612666 | GCK | c.*1342_*1343delinsCG (n.*1342_*1343delinsCG) c.*464_*465delinsCG (n.*464_*465delinsCG) n.570_571delinsCG c.378_379delinsCG (p.Gly126=) c.1347_1348delinsCG (p.Gly449=) c.1344_1345delinsCG (p.Gly448=) c.1407_1408delinsCG (p.Gly469=) n.356_357delinsCG c.396_397delinsCG (p.Gly132=) c.1341_1342delinsCG (p.Gly447=) c.1293_1294delinsCG (p.Gly431=) n.724_725delinsCG c.333_334delinsCG (p.Gly111=) c.204_205delinsCG (p.Gly68=) | |
7 | g.44145190_44145200del | CA2017997773 | GCK | c.*1333_*1343del (n.*1333_*1343del) c.*455_*465del (n.*455_*465del) n.561_571del c.369_379del (p.Arg125ProfsTer8) c.1338_1348del (p.Arg448ProfsTer8) c.1335_1345del (p.Arg447ProfsTer8) c.1398_1408del (p.Arg468ProfsTer8) n.347_357del c.1335_1345del (p.Arg447ProfsTer21) c.387_397del (p.Arg131ProfsTer8) c.1332_1342del (p.Arg446ProfsTer8) c.1284_1294del (p.Arg430ProfsTer8) n.715_725del c.324_334del (p.Arg110ProfsTer8) c.195_205del (p.Arg67ProfsTer21) c.195_205del (p.Arg67ProfsTer8) | ClinVar |
7 | g.44145190del | CA16609265 | GCK | c.*1342del (n.*1342del) c.*464del (n.*464del) n.570del c.378del (p.Ala127ArgfsTer?) c.1347del (p.Ala450ArgfsTer?) c.1344del (p.Ala449ArgfsTer?) c.1407del (p.Ala470ArgfsTer?) n.356del c.1344del (p.Ala449ArgfsTer15) c.396del (p.Ala133ArgfsTer?) c.1341del (p.Ala448ArgfsTer?) c.1293del (p.Ala432ArgfsTer?) n.724del c.333del (p.Ala112ArgfsTer?) c.204del (p.Ala69ArgfsTer15) c.204del (p.Ala69ArgfsTer?) | ClinVar dbSNP |
7 | g.44145190G>A | CA454606373 | GCK | c.*1342C>T (n.*1342C>T) c.*464C>T (n.*464C>T) n.570C>T c.378C>T (p.Gly126=) c.1347C>T (p.Gly449=) c.1344C>T (p.Gly448=) c.1407C>T (p.Gly469=) n.356C>T c.396C>T (p.Gly132=) c.1341C>T (p.Gly447=) c.1293C>T (p.Gly431=) n.724C>T c.333C>T (p.Gly111=) c.204C>T (p.Gly68=) | gnomAD v4 COSMIC COSMIC COSMIC |
7 | g.44145190G>C | CA4239375 | GCK | c.*1342C>G (n.*1342C>G) c.*464C>G (n.*464C>G) n.570C>G c.378C>G (p.Gly126=) c.1347C>G (p.Gly449=) c.1344C>G (p.Gly448=) c.1407C>G (p.Gly469=) n.356C>G c.396C>G (p.Gly132=) c.1341C>G (p.Gly447=) c.1293C>G (p.Gly431=) n.724C>G c.333C>G (p.Gly111=) c.204C>G (p.Gly68=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44145190G= | CA1703612667 | GCK | c.*1342C= (n.*1342C=) c.*464C= (n.*464C=) n.570C= c.378C= (p.Gly126=) c.1347C= (p.Gly449=) c.1344C= (p.Gly448=) c.1407C= (p.Gly469=) n.356C= c.396C= (p.Gly132=) c.1341C= (p.Gly447=) c.1293C= (p.Gly431=) n.724C= c.333C= (p.Gly111=) c.204C= (p.Gly68=) | |
7 | g.44145190G>T | CA454606377 | GCK | c.*1342C>A (n.*1342C>A) c.*464C>A (n.*464C>A) n.570C>A c.378C>A (p.Gly126=) c.1347C>A (p.Gly449=) c.1344C>A (p.Gly448=) c.1407C>A (p.Gly469=) n.356C>A c.396C>A (p.Gly132=) c.1341C>A (p.Gly447=) c.1293C>A (p.Gly431=) n.724C>A c.333C>A (p.Gly111=) c.204C>A (p.Gly68=) | COSMIC COSMIC COSMIC |
7 | g.44145191C>A | CA367396928 | GCK | c.*1341G>T (n.*1341G>T) c.*463G>T (n.*463G>T) n.569G>T c.377G>T (p.Gly126Val) c.1346G>T (p.Gly449Val) c.1343G>T (p.Gly448Val) c.1406G>T (p.Gly469Val) n.355G>T c.395G>T (p.Gly132Val) c.1340G>T (p.Gly447Val) c.1292G>T (p.Gly431Val) n.723G>T c.332G>T (p.Gly111Val) c.203G>T (p.Gly68Val) | |
7 | g.44145191C>G | CA367396930 | GCK | c.*1341G>C (n.*1341G>C) c.*463G>C (n.*463G>C) n.569G>C c.377G>C (p.Gly126Ala) c.1346G>C (p.Gly449Ala) c.1343G>C (p.Gly448Ala) c.1406G>C (p.Gly469Ala) n.355G>C c.395G>C (p.Gly132Ala) c.1340G>C (p.Gly447Ala) c.1292G>C (p.Gly431Ala) n.723G>C c.332G>C (p.Gly111Ala) c.203G>C (p.Gly68Ala) | |
7 | g.44145191C>T | CA367396932 | GCK | c.*1341G>A (n.*1341G>A) c.*463G>A (n.*463G>A) n.569G>A c.377G>A (p.Gly126Asp) c.1346G>A (p.Gly449Asp) c.1343G>A (p.Gly448Asp) c.1406G>A (p.Gly469Asp) n.355G>A c.395G>A (p.Gly132Asp) c.1340G>A (p.Gly447Asp) c.1292G>A (p.Gly431Asp) n.723G>A c.332G>A (p.Gly111Asp) c.203G>A (p.Gly68Asp) | |
7 | g.44145191_44145194delinsAGACCAG | CA2695202954 | GCK | c.*1338_*1341delinsCTGGTCT (n.*1338_*1341delinsCTGGTCT) c.*460_*463delinsCTGGTCT (n.*460_*463delinsCTGGTCT) n.566_569delinsCTGGTCT c.374_377delinsCTGGTCT (p.Arg125_Gly126delinsProGlyLeu) c.1343_1346delinsCTGGTCT (p.Arg448_Gly449delinsProGlyLeu) c.1340_1343delinsCTGGTCT (p.Arg447_Gly448delinsProGlyLeu) c.1403_1406delinsCTGGTCT (p.Arg468_Gly469delinsProGlyLeu) n.352_355delinsCTGGTCT c.392_395delinsCTGGTCT (p.Arg131_Gly132delinsProGlyLeu) c.1337_1340delinsCTGGTCT (p.Arg446_Gly447delinsProGlyLeu) c.1289_1292delinsCTGGTCT (p.Arg430_Gly431delinsProGlyLeu) n.720_723delinsCTGGTCT c.329_332delinsCTGGTCT (p.Arg110_Gly111delinsProGlyLeu) c.200_203delinsCTGGTCT (p.Arg67_Gly68delinsProGlyLeu) | |
7 | g.44145194dup | CA2695202953 | GCK | c.*1341dup (n.*1341dup) c.*463dup (n.*463dup) n.569dup c.377dup (p.Ala127ArgfsTer10) c.1346dup (p.Ala450ArgfsTer10) c.1343dup (p.Ala449ArgfsTer10) c.1406dup (p.Ala470ArgfsTer10) n.355dup c.1343dup (p.Ala449ArgfsTer23) c.395dup (p.Ala133ArgfsTer10) c.1340dup (p.Ala448ArgfsTer10) c.1292dup (p.Ala432ArgfsTer10) n.723dup c.332dup (p.Ala112ArgfsTer10) c.203dup (p.Ala69ArgfsTer23) c.203dup (p.Ala69ArgfsTer10) | |
7 | g.44145194del | CA2017997775 | GCK | c.*1341del (n.*1341del) c.*463del (n.*463del) n.569del c.377del (p.Gly126AlafsTer?) c.1346del (p.Gly449AlafsTer?) c.1343del (p.Gly448AlafsTer?) c.1406del (p.Gly469AlafsTer?) n.355del c.1343del (p.Gly448AlafsTer16) c.395del (p.Gly132AlafsTer?) c.1340del (p.Gly447AlafsTer?) c.1292del (p.Gly431AlafsTer?) n.723del c.332del (p.Gly111AlafsTer?) c.203del (p.Gly68AlafsTer16) c.203del (p.Gly68AlafsTer?) | ClinVar |
7 | g.44145192C>A | CA367396933 | GCK | c.*1340G>T (n.*1340G>T) c.*462G>T (n.*462G>T) n.568G>T c.376G>T (p.Gly126Cys) c.1345G>T (p.Gly449Cys) c.1342G>T (p.Gly448Cys) c.1405G>T (p.Gly469Cys) n.354G>T c.394G>T (p.Gly132Cys) c.1339G>T (p.Gly447Cys) c.1291G>T (p.Gly431Cys) n.722G>T c.331G>T (p.Gly111Cys) c.202G>T (p.Gly68Cys) | |
7 | g.44145192C>G | CA367396934 | GCK | c.*1340G>C (n.*1340G>C) c.*462G>C (n.*462G>C) n.568G>C c.376G>C (p.Gly126Arg) c.1345G>C (p.Gly449Arg) c.1342G>C (p.Gly448Arg) c.1405G>C (p.Gly469Arg) n.354G>C c.394G>C (p.Gly132Arg) c.1339G>C (p.Gly447Arg) c.1291G>C (p.Gly431Arg) n.722G>C c.331G>C (p.Gly111Arg) c.202G>C (p.Gly68Arg) | |
7 | g.44145192C>T | CA367396935 | GCK | c.*1340G>A (n.*1340G>A) c.*462G>A (n.*462G>A) n.568G>A c.376G>A (p.Gly126Ser) c.1345G>A (p.Gly449Ser) c.1342G>A (p.Gly448Ser) c.1405G>A (p.Gly469Ser) n.354G>A c.394G>A (p.Gly132Ser) c.1339G>A (p.Gly447Ser) c.1291G>A (p.Gly431Ser) n.722G>A c.331G>A (p.Gly111Ser) c.202G>A (p.Gly68Ser) | |
7 | g.44145193C>A | CA454606389 | GCK | c.*1339G>T (n.*1339G>T) c.*461G>T (n.*461G>T) n.567G>T c.375G>T (p.Arg125=) c.1344G>T (p.Arg448=) c.1341G>T (p.Arg447=) c.1404G>T (p.Arg468=) n.353G>T c.393G>T (p.Arg131=) c.1338G>T (p.Arg446=) c.1290G>T (p.Arg430=) n.721G>T c.330G>T (p.Arg110=) c.201G>T (p.Arg67=) | |
7 | g.44145193C>G | CA454606391 | GCK | c.*1339G>C (n.*1339G>C) c.*461G>C (n.*461G>C) n.567G>C c.375G>C (p.Arg125=) c.1344G>C (p.Arg448=) c.1341G>C (p.Arg447=) c.1404G>C (p.Arg468=) n.353G>C c.393G>C (p.Arg131=) c.1338G>C (p.Arg446=) c.1290G>C (p.Arg430=) n.721G>C c.330G>C (p.Arg110=) c.201G>C (p.Arg67=) | |
7 | g.44145193C>T | CA454606393 | GCK | c.*1339G>A (n.*1339G>A) c.*461G>A (n.*461G>A) n.567G>A c.375G>A (p.Arg125=) c.1344G>A (p.Arg448=) c.1341G>A (p.Arg447=) c.1404G>A (p.Arg468=) n.353G>A c.393G>A (p.Arg131=) c.1338G>A (p.Arg446=) c.1290G>A (p.Arg430=) n.721G>A c.330G>A (p.Arg110=) c.201G>A (p.Arg67=) | |
7 | g.44145194C>A | CA367396937 | GCK | c.*1338G>T (n.*1338G>T) c.*460G>T (n.*460G>T) n.566G>T c.374G>T (p.Arg125Leu) c.1343G>T (p.Arg448Leu) c.1340G>T (p.Arg447Leu) c.1403G>T (p.Arg468Leu) n.352G>T c.392G>T (p.Arg131Leu) c.1337G>T (p.Arg446Leu) c.1289G>T (p.Arg430Leu) n.720G>T c.329G>T (p.Arg110Leu) c.200G>T (p.Arg67Leu) | gnomAD v4 |
7 | g.44145194C= | CA1703612669 | GCK | c.*1338G= (n.*1338G=) c.*460G= (n.*460G=) n.566G= c.374G= (p.Arg125=) c.1343G= (p.Arg448=) c.1340G= (p.Arg447=) c.1403G= (p.Arg468=) n.352G= c.392G= (p.Arg131=) c.1337G= (p.Arg446=) c.1289G= (p.Arg430=) n.720G= c.329G= (p.Arg110=) c.200G= (p.Arg67=) | |
7 | g.44145194C>G | CA367396939 | GCK | c.*1338G>C (n.*1338G>C) c.*460G>C (n.*460G>C) n.566G>C c.374G>C (p.Arg125Pro) c.1343G>C (p.Arg448Pro) c.1340G>C (p.Arg447Pro) c.1403G>C (p.Arg468Pro) n.352G>C c.392G>C (p.Arg131Pro) c.1337G>C (p.Arg446Pro) c.1289G>C (p.Arg430Pro) n.720G>C c.329G>C (p.Arg110Pro) c.200G>C (p.Arg67Pro) | ClinVar dbSNP |
7 | g.44145194C>T | CA367396940 | GCK | c.*1338G>A (n.*1338G>A) c.*460G>A (n.*460G>A) n.566G>A c.374G>A (p.Arg125Gln) c.1343G>A (p.Arg448Gln) c.1340G>A (p.Arg447Gln) c.1403G>A (p.Arg468Gln) n.352G>A c.392G>A (p.Arg131Gln) c.1337G>A (p.Arg446Gln) c.1289G>A (p.Arg430Gln) n.720G>A c.329G>A (p.Arg110Gln) c.200G>A (p.Arg67Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145194_44145195delinsCG | CA1703612668 | GCK | c.*1337_*1338delinsCG (n.*1337_*1338delinsCG) c.*459_*460delinsCG (n.*459_*460delinsCG) n.565_566delinsCG c.373_374delinsCG (p.Arg125=) c.1342_1343delinsCG (p.Arg448=) c.1339_1340delinsCG (p.Arg447=) c.1402_1403delinsCG (p.Arg468=) n.351_352delinsCG c.391_392delinsCG (p.Arg131=) c.1336_1337delinsCG (p.Arg446=) c.1288_1289delinsCG (p.Arg430=) n.719_720delinsCG c.328_329delinsCG (p.Arg110=) c.199_200delinsCG (p.Arg67=) | |
7 | g.44145195G>A | CA367396942 | GCK | c.*1337C>T (n.*1337C>T) c.*459C>T (n.*459C>T) n.565C>T c.373C>T (p.Arg125Trp) c.1342C>T (p.Arg448Trp) c.1339C>T (p.Arg447Trp) c.1402C>T (p.Arg468Trp) n.351C>T c.391C>T (p.Arg131Trp) c.1336C>T (p.Arg446Trp) c.1288C>T (p.Arg430Trp) n.719C>T c.328C>T (p.Arg110Trp) c.199C>T (p.Arg67Trp) | gnomAD v4 |
7 | g.44145195G>C | CA213756 | GCK | c.*1337C>G (n.*1337C>G) c.*459C>G (n.*459C>G) n.565C>G c.373C>G (p.Arg125Gly) c.1342C>G (p.Arg448Gly) c.1339C>G (p.Arg447Gly) c.1402C>G (p.Arg468Gly) n.351C>G c.391C>G (p.Arg131Gly) c.1336C>G (p.Arg446Gly) c.1288C>G (p.Arg430Gly) n.719C>G c.328C>G (p.Arg110Gly) c.199C>G (p.Arg67Gly) | ClinVar dbSNP |
7 | g.44145195G= | CA1703612670 | GCK | c.*1337C= (n.*1337C=) c.*459C= (n.*459C=) n.565C= c.373C= (p.Arg125=) c.1342C= (p.Arg448=) c.1339C= (p.Arg447=) c.1402C= (p.Arg468=) n.351C= c.391C= (p.Arg131=) c.1336C= (p.Arg446=) c.1288C= (p.Arg430=) n.719C= c.328C= (p.Arg110=) c.199C= (p.Arg67=) | |
7 | g.44145195G>T | CA454606404 | GCK | c.*1337C>A (n.*1337C>A) c.*459C>A (n.*459C>A) n.565C>A c.373C>A (p.Arg125=) c.1342C>A (p.Arg448=) c.1339C>A (p.Arg447=) c.1402C>A (p.Arg468=) n.351C>A c.391C>A (p.Arg131=) c.1336C>A (p.Arg446=) c.1288C>A (p.Arg430=) n.719C>A c.328C>A (p.Arg110=) c.199C>A (p.Arg67=) | gnomAD v4 |
7 | g.44145196dup | CA2017997774 | GCK | c.*1337dup (n.*1337dup) c.*459dup (n.*459dup) n.565dup c.373dup (p.Arg125ProfsTer12) c.1342dup (p.Arg448ProfsTer12) c.1339dup (p.Arg447ProfsTer12) c.1402dup (p.Arg468ProfsTer12) n.351dup c.1339dup (p.Arg447ProfsTer25) c.391dup (p.Arg131ProfsTer12) c.1336dup (p.Arg446ProfsTer12) c.1288dup (p.Arg430ProfsTer12) n.719dup c.328dup (p.Arg110ProfsTer12) c.199dup (p.Arg67ProfsTer25) c.199dup (p.Arg67ProfsTer12) | ClinVar |
7 | g.44145196del | CA16618465 | GCK | c.*1337del (n.*1337del) c.*459del (n.*459del) n.565del c.373del (p.Arg125GlyfsTer?) c.1342del (p.Arg448GlyfsTer?) c.1339del (p.Arg447GlyfsTer?) c.1402del (p.Arg468GlyfsTer?) n.351del c.1339del (p.Arg447GlyfsTer17) c.391del (p.Arg131GlyfsTer?) c.1336del (p.Arg446GlyfsTer?) c.1288del (p.Arg430GlyfsTer?) n.719del c.328del (p.Arg110GlyfsTer?) c.199del (p.Arg67GlyfsTer17) c.199del (p.Arg67GlyfsTer?) | ClinVar dbSNP |
7 | g.44145196G>A | CA454606408 | GCK | c.*1336C>T (n.*1336C>T) c.*458C>T (n.*458C>T) n.564C>T c.372C>T (p.Gly124=) c.1341C>T (p.Gly447=) c.1338C>T (p.Gly446=) c.1401C>T (p.Gly467=) n.350C>T c.390C>T (p.Gly130=) c.1335C>T (p.Gly445=) c.1287C>T (p.Gly429=) n.718C>T c.327C>T (p.Gly109=) c.198C>T (p.Gly66=) | gnomAD v4 COSMIC COSMIC COSMIC |
7 | g.44145196G>C | CA454606420 | GCK | c.*1336C>G (n.*1336C>G) c.*458C>G (n.*458C>G) n.564C>G c.372C>G (p.Gly124=) c.1341C>G (p.Gly447=) c.1338C>G (p.Gly446=) c.1401C>G (p.Gly467=) n.350C>G c.390C>G (p.Gly130=) c.1335C>G (p.Gly445=) c.1287C>G (p.Gly429=) n.718C>G c.327C>G (p.Gly109=) c.198C>G (p.Gly66=) | |
7 | g.44145196G>T | CA454606423 | GCK | c.*1336C>A (n.*1336C>A) c.*458C>A (n.*458C>A) n.564C>A c.372C>A (p.Gly124=) c.1341C>A (p.Gly447=) c.1338C>A (p.Gly446=) c.1401C>A (p.Gly467=) n.350C>A c.390C>A (p.Gly130=) c.1335C>A (p.Gly445=) c.1287C>A (p.Gly429=) n.718C>A c.327C>A (p.Gly109=) c.198C>A (p.Gly66=) | gnomAD v4 |
7 | g.44145197C>A | CA367396947 | GCK | c.*1335G>T (n.*1335G>T) c.*457G>T (n.*457G>T) n.563G>T c.371G>T (p.Gly124Val) c.1340G>T (p.Gly447Val) c.1337G>T (p.Gly446Val) c.1400G>T (p.Gly467Val) n.349G>T c.389G>T (p.Gly130Val) c.1334G>T (p.Gly445Val) c.1286G>T (p.Gly429Val) n.717G>T c.326G>T (p.Gly109Val) c.197G>T (p.Gly66Val) | |
7 | g.44145197C>G | CA367396949 | GCK | c.*1335G>C (n.*1335G>C) c.*457G>C (n.*457G>C) n.563G>C c.371G>C (p.Gly124Ala) c.1340G>C (p.Gly447Ala) c.1337G>C (p.Gly446Ala) c.1400G>C (p.Gly467Ala) n.349G>C c.389G>C (p.Gly130Ala) c.1334G>C (p.Gly445Ala) c.1286G>C (p.Gly429Ala) n.717G>C c.326G>C (p.Gly109Ala) c.197G>C (p.Gly66Ala) | |
7 | g.44145197C>T | CA367396948 | GCK | c.*1335G>A (n.*1335G>A) c.*457G>A (n.*457G>A) n.563G>A c.371G>A (p.Gly124Asp) c.1340G>A (p.Gly447Asp) c.1337G>A (p.Gly446Asp) c.1400G>A (p.Gly467Asp) n.349G>A c.389G>A (p.Gly130Asp) c.1334G>A (p.Gly445Asp) c.1286G>A (p.Gly429Asp) n.717G>A c.326G>A (p.Gly109Asp) c.197G>A (p.Gly66Asp) | |
7 | g.44145198C>A | CA367396952 | GCK | c.*1334G>T (n.*1334G>T) c.*456G>T (n.*456G>T) n.562G>T c.370G>T (p.Gly124Cys) c.1339G>T (p.Gly447Cys) c.1336G>T (p.Gly446Cys) c.1399G>T (p.Gly467Cys) n.348G>T c.388G>T (p.Gly130Cys) c.1333G>T (p.Gly445Cys) c.1285G>T (p.Gly429Cys) n.716G>T c.325G>T (p.Gly109Cys) c.196G>T (p.Gly66Cys) | |
7 | g.44145198C>G | CA367396955 | GCK | c.*1334G>C (n.*1334G>C) c.*456G>C (n.*456G>C) n.562G>C c.370G>C (p.Gly124Arg) c.1339G>C (p.Gly447Arg) c.1336G>C (p.Gly446Arg) c.1399G>C (p.Gly467Arg) n.348G>C c.388G>C (p.Gly130Arg) c.1333G>C (p.Gly445Arg) c.1285G>C (p.Gly429Arg) n.716G>C c.325G>C (p.Gly109Arg) c.196G>C (p.Gly66Arg) | gnomAD v4 |
7 | g.44145198C>T | CA367396953 | GCK | c.*1334G>A (n.*1334G>A) c.*456G>A (n.*456G>A) n.562G>A c.370G>A (p.Gly124Ser) c.1339G>A (p.Gly447Ser) c.1336G>A (p.Gly446Ser) c.1399G>A (p.Gly467Ser) n.348G>A c.388G>A (p.Gly130Ser) c.1333G>A (p.Gly445Ser) c.1285G>A (p.Gly429Ser) n.716G>A c.325G>A (p.Gly109Ser) c.196G>A (p.Gly66Ser) | |
7 | g.44145199A>C | CA367396957 | GCK | c.*1333T>G (n.*1333T>G) c.*455T>G (n.*455T>G) n.561T>G c.369T>G (p.Ser123Arg) c.1338T>G (p.Ser446Arg) c.1335T>G (p.Ser445Arg) c.1398T>G (p.Ser466Arg) n.347T>G c.387T>G (p.Ser129Arg) c.1332T>G (p.Ser444Arg) c.1284T>G (p.Ser428Arg) n.715T>G c.324T>G (p.Ser108Arg) c.195T>G (p.Ser65Arg) | |
7 | g.44145199A>G | CA454606448 | GCK | c.*1333T>C (n.*1333T>C) c.*455T>C (n.*455T>C) n.561T>C c.369T>C (p.Ser123=) c.1338T>C (p.Ser446=) c.1335T>C (p.Ser445=) c.1398T>C (p.Ser466=) n.347T>C c.387T>C (p.Ser129=) c.1332T>C (p.Ser444=) c.1284T>C (p.Ser428=) n.715T>C c.324T>C (p.Ser108=) c.195T>C (p.Ser65=) | gnomAD v4 |
7 | g.44145199A>T | CA367396958 | GCK | c.*1333T>A (n.*1333T>A) c.*455T>A (n.*455T>A) n.561T>A c.369T>A (p.Ser123Arg) c.1338T>A (p.Ser446Arg) c.1335T>A (p.Ser445Arg) c.1398T>A (p.Ser466Arg) n.347T>A c.387T>A (p.Ser129Arg) c.1332T>A (p.Ser444Arg) c.1284T>A (p.Ser428Arg) n.715T>A c.324T>A (p.Ser108Arg) c.195T>A (p.Ser65Arg) | ClinVar dbSNP |
7 | g.44145200C>A | CA367396964 | GCK | c.*1332G>T (n.*1332G>T) c.*454G>T (n.*454G>T) n.560G>T c.368G>T (p.Ser123Ile) c.1337G>T (p.Ser446Ile) c.1334G>T (p.Ser445Ile) c.1397G>T (p.Ser466Ile) n.346G>T c.386G>T (p.Ser129Ile) c.1331G>T (p.Ser444Ile) c.1283G>T (p.Ser428Ile) n.714G>T c.323G>T (p.Ser108Ile) c.194G>T (p.Ser65Ile) | |
7 | g.44145200C>G | CA367396966 | GCK | c.*1332G>C (n.*1332G>C) c.*454G>C (n.*454G>C) n.560G>C c.368G>C (p.Ser123Thr) c.1337G>C (p.Ser446Thr) c.1334G>C (p.Ser445Thr) c.1397G>C (p.Ser466Thr) n.346G>C c.386G>C (p.Ser129Thr) c.1331G>C (p.Ser444Thr) c.1283G>C (p.Ser428Thr) n.714G>C c.323G>C (p.Ser108Thr) c.194G>C (p.Ser65Thr) | gnomAD v4 |
7 | g.44145200C>T | CA367396968 | GCK | c.*1332G>A (n.*1332G>A) c.*454G>A (n.*454G>A) n.560G>A c.368G>A (p.Ser123Asn) c.1337G>A (p.Ser446Asn) c.1334G>A (p.Ser445Asn) c.1397G>A (p.Ser466Asn) n.346G>A c.386G>A (p.Ser129Asn) c.1331G>A (p.Ser444Asn) c.1283G>A (p.Ser428Asn) n.714G>A c.323G>A (p.Ser108Asn) c.194G>A (p.Ser65Asn) | |
7 | g.44145201T>A | CA367396971 | GCK | c.*1331A>T (n.*1331A>T) c.*453A>T (n.*453A>T) n.559A>T c.367A>T (p.Ser123Cys) c.1336A>T (p.Ser446Cys) c.1333A>T (p.Ser445Cys) c.1396A>T (p.Ser466Cys) n.345A>T c.385A>T (p.Ser129Cys) c.1330A>T (p.Ser444Cys) c.1282A>T (p.Ser428Cys) n.713A>T c.322A>T (p.Ser108Cys) c.193A>T (p.Ser65Cys) | |
7 | g.44145201T>C | CA367396972 | GCK | c.*1331A>G (n.*1331A>G) c.*453A>G (n.*453A>G) n.559A>G c.367A>G (p.Ser123Gly) c.1336A>G (p.Ser446Gly) c.1333A>G (p.Ser445Gly) c.1396A>G (p.Ser466Gly) n.345A>G c.385A>G (p.Ser129Gly) c.1330A>G (p.Ser444Gly) c.1282A>G (p.Ser428Gly) n.713A>G c.322A>G (p.Ser108Gly) c.193A>G (p.Ser65Gly) | |
7 | g.44145201T>G | CA367396973 | GCK | c.*1331A>C (n.*1331A>C) c.*453A>C (n.*453A>C) n.559A>C c.367A>C (p.Ser123Arg) c.1336A>C (p.Ser446Arg) c.1333A>C (p.Ser445Arg) c.1396A>C (p.Ser466Arg) n.345A>C c.385A>C (p.Ser129Arg) c.1330A>C (p.Ser444Arg) c.1282A>C (p.Ser428Arg) n.713A>C c.322A>C (p.Ser108Arg) c.193A>C (p.Ser65Arg) | |
7 | g.44145201_44145202delinsTG | CA1703612671 | GCK | c.*1330_*1331delinsCA (n.*1330_*1331delinsCA) c.*452_*453delinsCA (n.*452_*453delinsCA) n.558_559delinsCA c.366_367delinsCA (p.Gly122=) c.1335_1336delinsCA (p.Gly445=) c.1332_1333delinsCA (p.Gly444=) c.1395_1396delinsCA (p.Gly465=) n.344_345delinsCA c.384_385delinsCA (p.Gly128=) c.1329_1330delinsCA (p.Gly443=) c.1281_1282delinsCA (p.Gly427=) n.712_713delinsCA c.321_322delinsCA (p.Gly107=) c.192_193delinsCA (p.Gly64=) | |
7 | g.44145202del | CA213755 | GCK | c.*1330del (n.*1330del) c.*452del (n.*452del) n.558del c.366del (p.Ser123ValfsTer?) c.1335del (p.Ser446ValfsTer?) c.1332del (p.Ser445ValfsTer?) c.1395del (p.Ser466ValfsTer?) n.344del c.1332del (p.Ser445ValfsTer19) c.384del (p.Ser129ValfsTer?) c.1329del (p.Ser444ValfsTer?) c.1281del (p.Ser428ValfsTer?) n.712del c.321del (p.Ser108ValfsTer?) c.192del (p.Ser65ValfsTer19) c.192del (p.Ser65ValfsTer?) | ClinVar dbSNP |
7 | g.44145202G>A | CA454606493 | GCK | c.*1330C>T (n.*1330C>T) c.*452C>T (n.*452C>T) n.558C>T c.366C>T (p.Gly122=) c.1335C>T (p.Gly445=) c.1332C>T (p.Gly444=) c.1395C>T (p.Gly465=) n.344C>T c.384C>T (p.Gly128=) c.1329C>T (p.Gly443=) c.1281C>T (p.Gly427=) n.712C>T c.321C>T (p.Gly107=) c.192C>T (p.Gly64=) | gnomAD v4 |
7 | g.44145202G>C | CA454606465 | GCK | c.*1330C>G (n.*1330C>G) c.*452C>G (n.*452C>G) n.558C>G c.366C>G (p.Gly122=) c.1335C>G (p.Gly445=) c.1332C>G (p.Gly444=) c.1395C>G (p.Gly465=) n.344C>G c.384C>G (p.Gly128=) c.1329C>G (p.Gly443=) c.1281C>G (p.Gly427=) n.712C>G c.321C>G (p.Gly107=) c.192C>G (p.Gly64=) | |
7 | g.44145202G>T | CA454606486 | GCK | c.*1330C>A (n.*1330C>A) c.*452C>A (n.*452C>A) n.558C>A c.366C>A (p.Gly122=) c.1335C>A (p.Gly445=) c.1332C>A (p.Gly444=) c.1395C>A (p.Gly465=) n.344C>A c.384C>A (p.Gly128=) c.1329C>A (p.Gly443=) c.1281C>A (p.Gly427=) n.712C>A c.321C>A (p.Gly107=) c.192C>A (p.Gly64=) | |
7 | g.44145203C>A | CA367396976 | GCK | c.*1329G>T (n.*1329G>T) c.*451G>T (n.*451G>T) n.557G>T c.365G>T (p.Gly122Val) c.1334G>T (p.Gly445Val) c.1331G>T (p.Gly444Val) c.1394G>T (p.Gly465Val) n.343G>T c.383G>T (p.Gly128Val) c.1328G>T (p.Gly443Val) c.1280G>T (p.Gly427Val) n.711G>T c.320G>T (p.Gly107Val) c.191G>T (p.Gly64Val) | |
7 | g.44145203C= | CA1703612672 | GCK | c.*1329G= (n.*1329G=) c.*451G= (n.*451G=) n.557G= c.365G= (p.Gly122=) c.1334G= (p.Gly445=) c.1331G= (p.Gly444=) c.1394G= (p.Gly465=) n.343G= c.383G= (p.Gly128=) c.1328G= (p.Gly443=) c.1280G= (p.Gly427=) n.711G= c.320G= (p.Gly107=) c.191G= (p.Gly64=) | |
7 | g.44145203C>G | CA367396978 | GCK | c.*1329G>C (n.*1329G>C) c.*451G>C (n.*451G>C) n.557G>C c.365G>C (p.Gly122Ala) c.1334G>C (p.Gly445Ala) c.1331G>C (p.Gly444Ala) c.1394G>C (p.Gly465Ala) n.343G>C c.383G>C (p.Gly128Ala) c.1328G>C (p.Gly443Ala) c.1280G>C (p.Gly427Ala) n.711G>C c.320G>C (p.Gly107Ala) c.191G>C (p.Gly64Ala) | dbSNP |
7 | g.44145203C>T | CA367396980 | GCK | c.*1329G>A (n.*1329G>A) c.*451G>A (n.*451G>A) n.557G>A c.365G>A (p.Gly122Asp) c.1334G>A (p.Gly445Asp) c.1331G>A (p.Gly444Asp) c.1394G>A (p.Gly465Asp) n.343G>A c.383G>A (p.Gly128Asp) c.1328G>A (p.Gly443Asp) c.1280G>A (p.Gly427Asp) n.711G>A c.320G>A (p.Gly107Asp) c.191G>A (p.Gly64Asp) | ClinVar dbSNP gnomAD v4 |
7 | g.44145205dup | CA2017997770 | GCK | c.*1329dup (n.*1329dup) c.*451dup (n.*451dup) n.557dup c.365dup (p.Ser123GlnfsTer14) c.1334dup (p.Ser446GlnfsTer14) c.1331dup (p.Ser445GlnfsTer14) c.1394dup (p.Ser466GlnfsTer14) n.343dup c.1331dup (p.Ser445GlnfsTer27) c.383dup (p.Ser129GlnfsTer14) c.1328dup (p.Ser444GlnfsTer14) c.1280dup (p.Ser428GlnfsTer14) n.711dup c.320dup (p.Ser108GlnfsTer14) c.191dup (p.Ser65GlnfsTer27) c.191dup (p.Ser65GlnfsTer14) | ClinVar |
7 | g.44145204C>A | CA367396984 | GCK | c.*1328G>T (n.*1328G>T) c.*450G>T (n.*450G>T) n.556G>T c.364G>T (p.Gly122Cys) c.1333G>T (p.Gly445Cys) c.1330G>T (p.Gly444Cys) c.1393G>T (p.Gly465Cys) n.342G>T c.382G>T (p.Gly128Cys) c.1327G>T (p.Gly443Cys) c.1279G>T (p.Gly427Cys) n.710G>T c.319G>T (p.Gly107Cys) c.190G>T (p.Gly64Cys) | |
7 | g.44145204C= | CA1703612673 | GCK | c.*1328G= (n.*1328G=) c.*450G= (n.*450G=) n.556G= c.364G= (p.Gly122=) c.1333G= (p.Gly445=) c.1330G= (p.Gly444=) c.1393G= (p.Gly465=) n.342G= c.382G= (p.Gly128=) c.1327G= (p.Gly443=) c.1279G= (p.Gly427=) n.710G= c.319G= (p.Gly107=) c.190G= (p.Gly64=) | |
7 | g.44145204C>G | CA367396982 | GCK | c.*1328G>C (n.*1328G>C) c.*450G>C (n.*450G>C) n.556G>C c.364G>C (p.Gly122Arg) c.1333G>C (p.Gly445Arg) c.1330G>C (p.Gly444Arg) c.1393G>C (p.Gly465Arg) n.342G>C c.382G>C (p.Gly128Arg) c.1327G>C (p.Gly443Arg) c.1279G>C (p.Gly427Arg) n.710G>C c.319G>C (p.Gly107Arg) c.190G>C (p.Gly64Arg) | |
7 | g.44145204C>T | CA157911840 | GCK | c.*1328G>A (n.*1328G>A) c.*450G>A (n.*450G>A) n.556G>A c.364G>A (p.Gly122Ser) c.1333G>A (p.Gly445Ser) c.1330G>A (p.Gly444Ser) c.1393G>A (p.Gly465Ser) n.342G>A c.382G>A (p.Gly128Ser) c.1327G>A (p.Gly443Ser) c.1279G>A (p.Gly427Ser) n.710G>A c.319G>A (p.Gly107Ser) c.190G>A (p.Gly64Ser) | dbSNP gnomAD v4 |
7 | g.44145205C>A | CA367396986 | GCK | c.*1327G>T (n.*1327G>T) c.*449G>T (n.*449G>T) n.555G>T c.363G>T (p.Glu121Asp) c.1332G>T (p.Glu444Asp) c.1329G>T (p.Glu443Asp) c.1392G>T (p.Glu464Asp) n.341G>T c.381G>T (p.Glu127Asp) c.1326G>T (p.Glu442Asp) c.1278G>T (p.Glu426Asp) n.709G>T c.318G>T (p.Glu106Asp) c.189G>T (p.Glu63Asp) | |
7 | g.44145205C= | CA1703612674 | GCK | c.*1327G= (n.*1327G=) c.*449G= (n.*449G=) n.555G= c.363G= (p.Glu121=) c.1332G= (p.Glu444=) c.1329G= (p.Glu443=) c.1392G= (p.Glu464=) n.341G= c.381G= (p.Glu127=) c.1326G= (p.Glu442=) c.1278G= (p.Glu426=) n.709G= c.318G= (p.Glu106=) c.189G= (p.Glu63=) | |
7 | g.44145205C>G | CA367396989 | GCK | c.*1327G>C (n.*1327G>C) c.*449G>C (n.*449G>C) n.555G>C c.363G>C (p.Glu121Asp) c.1332G>C (p.Glu444Asp) c.1329G>C (p.Glu443Asp) c.1392G>C (p.Glu464Asp) n.341G>C c.381G>C (p.Glu127Asp) c.1326G>C (p.Glu442Asp) c.1278G>C (p.Glu426Asp) n.709G>C c.318G>C (p.Glu106Asp) c.189G>C (p.Glu63Asp) | dbSNP gnomAD v4 |
7 | g.44145205C>T | CA4239376 | GCK | c.*1327G>A (n.*1327G>A) c.*449G>A (n.*449G>A) n.555G>A c.363G>A (p.Glu121=) c.1332G>A (p.Glu444=) c.1329G>A (p.Glu443=) c.1392G>A (p.Glu464=) n.341G>A c.381G>A (p.Glu127=) c.1326G>A (p.Glu442=) c.1278G>A (p.Glu426=) n.709G>A c.318G>A (p.Glu106=) c.189G>A (p.Glu63=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
7 | g.44145206T>A | CA367396991 | GCK | c.*1326A>T (n.*1326A>T) c.*448A>T (n.*448A>T) n.554A>T c.362A>T (p.Glu121Val) c.1331A>T (p.Glu444Val) c.1328A>T (p.Glu443Val) c.1391A>T (p.Glu464Val) n.340A>T c.380A>T (p.Glu127Val) c.1325A>T (p.Glu442Val) c.1277A>T (p.Glu426Val) n.708A>T c.317A>T (p.Glu106Val) c.188A>T (p.Glu63Val) | |
7 | g.44145206T>C | CA367396992 | GCK | c.*1326A>G (n.*1326A>G) c.*448A>G (n.*448A>G) n.554A>G c.362A>G (p.Glu121Gly) c.1331A>G (p.Glu444Gly) c.1328A>G (p.Glu443Gly) c.1391A>G (p.Glu464Gly) n.340A>G c.380A>G (p.Glu127Gly) c.1325A>G (p.Glu442Gly) c.1277A>G (p.Glu426Gly) n.708A>G c.317A>G (p.Glu106Gly) c.188A>G (p.Glu63Gly) | |
7 | g.44145206T>G | CA367396994 | GCK | c.*1326A>C (n.*1326A>C) c.*448A>C (n.*448A>C) n.554A>C c.362A>C (p.Glu121Ala) c.1331A>C (p.Glu444Ala) c.1328A>C (p.Glu443Ala) c.1391A>C (p.Glu464Ala) n.340A>C c.380A>C (p.Glu127Ala) c.1325A>C (p.Glu442Ala) c.1277A>C (p.Glu426Ala) n.708A>C c.317A>C (p.Glu106Ala) c.188A>C (p.Glu63Ala) | |
7 | g.44145207C>A | CA367396996 | GCK | c.*1325G>T (n.*1325G>T) c.*447G>T (n.*447G>T) n.553G>T c.361G>T (p.Glu121Ter) c.1330G>T (p.Glu444Ter) c.1327G>T (p.Glu443Ter) c.1390G>T (p.Glu464Ter) n.339G>T c.379G>T (p.Glu127Ter) c.1324G>T (p.Glu442Ter) c.1276G>T (p.Glu426Ter) n.707G>T c.316G>T (p.Glu106Ter) c.187G>T (p.Glu63Ter) | ClinVar dbSNP |
7 | g.44145207C= | CA1703612675 | GCK | c.*1325G= (n.*1325G=) c.*447G= (n.*447G=) n.553G= c.361G= (p.Glu121=) c.1330G= (p.Glu444=) c.1327G= (p.Glu443=) c.1390G= (p.Glu464=) n.339G= c.379G= (p.Glu127=) c.1324G= (p.Glu442=) c.1276G= (p.Glu426=) n.707G= c.316G= (p.Glu106=) c.187G= (p.Glu63=) | |
7 | g.44145207C>G | CA367396998 | GCK | c.*1325G>C (n.*1325G>C) c.*447G>C (n.*447G>C) n.553G>C c.361G>C (p.Glu121Gln) c.1330G>C (p.Glu444Gln) c.1327G>C (p.Glu443Gln) c.1390G>C (p.Glu464Gln) n.339G>C c.379G>C (p.Glu127Gln) c.1324G>C (p.Glu442Gln) c.1276G>C (p.Glu426Gln) n.707G>C c.316G>C (p.Glu106Gln) c.187G>C (p.Glu63Gln) | |
7 | g.44145207C>T | CA367396999 | GCK | c.*1325G>A (n.*1325G>A) c.*447G>A (n.*447G>A) n.553G>A c.361G>A (p.Glu121Lys) c.1330G>A (p.Glu444Lys) c.1327G>A (p.Glu443Lys) c.1390G>A (p.Glu464Lys) n.339G>A c.379G>A (p.Glu127Lys) c.1324G>A (p.Glu442Lys) c.1276G>A (p.Glu426Lys) n.707G>A c.316G>A (p.Glu106Lys) c.187G>A (p.Glu63Lys) | ClinVar gnomAD v4 COSMIC |
7 | g.44145208C>A | CA367397002 | GCK | c.*1324G>T (n.*1324G>T) c.*446G>T (n.*446G>T) n.552G>T c.360G>T (p.Glu120Asp) c.1329G>T (p.Glu443Asp) c.1326G>T (p.Glu442Asp) c.1389G>T (p.Glu463Asp) n.338G>T c.378G>T (p.Glu126Asp) c.1323G>T (p.Glu441Asp) c.1275G>T (p.Glu425Asp) n.706G>T c.315G>T (p.Glu105Asp) c.186G>T (p.Glu62Asp) | |
7 | g.44145208C>G | CA367397004 | GCK | c.*1324G>C (n.*1324G>C) c.*446G>C (n.*446G>C) n.552G>C c.360G>C (p.Glu120Asp) c.1329G>C (p.Glu443Asp) c.1326G>C (p.Glu442Asp) c.1389G>C (p.Glu463Asp) n.338G>C c.378G>C (p.Glu126Asp) c.1323G>C (p.Glu441Asp) c.1275G>C (p.Glu425Asp) n.706G>C c.315G>C (p.Glu105Asp) c.186G>C (p.Glu62Asp) | |
7 | g.44145208C>T | CA454606526 | GCK | c.*1324G>A (n.*1324G>A) c.*446G>A (n.*446G>A) n.552G>A c.360G>A (p.Glu120=) c.1329G>A (p.Glu443=) c.1326G>A (p.Glu442=) c.1389G>A (p.Glu463=) n.338G>A c.378G>A (p.Glu126=) c.1323G>A (p.Glu441=) c.1275G>A (p.Glu425=) n.706G>A c.315G>A (p.Glu105=) c.186G>A (p.Glu62=) | |
7 | g.44145209T>A | CA367397008 | GCK | c.*1323A>T (n.*1323A>T) c.*445A>T (n.*445A>T) n.551A>T c.359A>T (p.Glu120Val) c.1328A>T (p.Glu443Val) c.1325A>T (p.Glu442Val) c.1388A>T (p.Glu463Val) n.337A>T c.377A>T (p.Glu126Val) c.1322A>T (p.Glu441Val) c.1274A>T (p.Glu425Val) n.705A>T c.314A>T (p.Glu105Val) c.185A>T (p.Glu62Val) | |
7 | g.44145209T>C | CA367397010 | GCK | c.*1323A>G (n.*1323A>G) c.*445A>G (n.*445A>G) n.551A>G c.359A>G (p.Glu120Gly) c.1328A>G (p.Glu443Gly) c.1325A>G (p.Glu442Gly) c.1388A>G (p.Glu463Gly) n.337A>G c.377A>G (p.Glu126Gly) c.1322A>G (p.Glu441Gly) c.1274A>G (p.Glu425Gly) n.705A>G c.314A>G (p.Glu105Gly) c.185A>G (p.Glu62Gly) | |
7 | g.44145209T>G | CA367397007 | GCK | c.*1323A>C (n.*1323A>C) c.*445A>C (n.*445A>C) n.551A>C c.359A>C (p.Glu120Ala) c.1328A>C (p.Glu443Ala) c.1325A>C (p.Glu442Ala) c.1388A>C (p.Glu463Ala) n.337A>C c.377A>C (p.Glu126Ala) c.1322A>C (p.Glu441Ala) c.1274A>C (p.Glu425Ala) n.705A>C c.314A>C (p.Glu105Ala) c.185A>C (p.Glu62Ala) | |
7 | g.44145210C>A | CA367397011 | GCK | c.*1322G>T (n.*1322G>T) c.*444G>T (n.*444G>T) n.550G>T c.358G>T (p.Glu120Ter) c.1327G>T (p.Glu443Ter) c.1324G>T (p.Glu442Ter) c.1387G>T (p.Glu463Ter) n.336G>T c.376G>T (p.Glu126Ter) c.1321G>T (p.Glu441Ter) c.1273G>T (p.Glu425Ter) n.704G>T c.313G>T (p.Glu105Ter) c.184G>T (p.Glu62Ter) | ClinVar dbSNP gnomAD v4 |
7 | g.44145210C= | CA1703612676 | GCK | c.*1322G= (n.*1322G=) c.*444G= (n.*444G=) n.550G= c.358G= (p.Glu120=) c.1327G= (p.Glu443=) c.1324G= (p.Glu442=) c.1387G= (p.Glu463=) n.336G= c.376G= (p.Glu126=) c.1321G= (p.Glu441=) c.1273G= (p.Glu425=) n.704G= c.313G= (p.Glu105=) c.184G= (p.Glu62=) | |
7 | g.44145210C>G | CA367397013 | GCK | c.*1322G>C (n.*1322G>C) c.*444G>C (n.*444G>C) n.550G>C c.358G>C (p.Glu120Gln) c.1327G>C (p.Glu443Gln) c.1324G>C (p.Glu442Gln) c.1387G>C (p.Glu463Gln) n.336G>C c.376G>C (p.Glu126Gln) c.1321G>C (p.Glu441Gln) c.1273G>C (p.Glu425Gln) n.704G>C c.313G>C (p.Glu105Gln) c.184G>C (p.Glu62Gln) | |
7 | g.44145210C>T | CA4239377 | GCK | c.*1322G>A (n.*1322G>A) c.*444G>A (n.*444G>A) n.550G>A c.358G>A (p.Glu120Lys) c.1327G>A (p.Glu443Lys) c.1324G>A (p.Glu442Lys) c.1387G>A (p.Glu463Lys) n.336G>A c.376G>A (p.Glu126Lys) c.1321G>A (p.Glu441Lys) c.1273G>A (p.Glu425Lys) n.704G>A c.313G>A (p.Glu105Lys) c.184G>A (p.Glu62Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44145211del | CA2739289487 | GCK | c.*1322del (n.*1322del) c.*444del (n.*444del) n.550del c.358del (p.Glu120ArgfsTer?) c.1327del (p.Glu443ArgfsTer?) c.1324del (p.Glu442ArgfsTer?) c.1387del (p.Glu463ArgfsTer?) n.336del c.1324del (p.Glu442ArgfsTer22) c.376del (p.Glu126ArgfsTer?) c.1321del (p.Glu441ArgfsTer?) c.1273del (p.Glu425ArgfsTer?) n.704del c.313del (p.Glu105ArgfsTer?) c.184del (p.Glu62ArgfsTer22) c.184del (p.Glu62ArgfsTer?) | |
7 | g.44145211C>A | CA454606536 | GCK | c.*1321G>T (n.*1321G>T) c.*443G>T (n.*443G>T) n.549G>T c.357G>T (p.Ser119=) c.1326G>T (p.Ser442=) c.1323G>T (p.Ser441=) c.1386G>T (p.Ser462=) n.335G>T c.375G>T (p.Ser125=) c.1320G>T (p.Ser440=) c.1272G>T (p.Ser424=) n.703G>T c.312G>T (p.Ser104=) c.183G>T (p.Ser61=) | |
7 | g.44145211C= | CA1703612677 | GCK | c.*1321G= (n.*1321G=) c.*443G= (n.*443G=) n.549G= c.357G= (p.Ser119=) c.1326G= (p.Ser442=) c.1323G= (p.Ser441=) c.1386G= (p.Ser462=) n.335G= c.375G= (p.Ser125=) c.1320G= (p.Ser440=) c.1272G= (p.Ser424=) n.703G= c.312G= (p.Ser104=) c.183G= (p.Ser61=) | |
7 | g.44145211C>G | CA454606539 | GCK | c.*1321G>C (n.*1321G>C) c.*443G>C (n.*443G>C) n.549G>C c.357G>C (p.Ser119=) c.1326G>C (p.Ser442=) c.1323G>C (p.Ser441=) c.1386G>C (p.Ser462=) n.335G>C c.375G>C (p.Ser125=) c.1320G>C (p.Ser440=) c.1272G>C (p.Ser424=) n.703G>C c.312G>C (p.Ser104=) c.183G>C (p.Ser61=) | |
7 | g.44145211C>T | CA4239378 | GCK | c.*1321G>A (n.*1321G>A) c.*443G>A (n.*443G>A) n.549G>A c.357G>A (p.Ser119=) c.1326G>A (p.Ser442=) c.1323G>A (p.Ser441=) c.1386G>A (p.Ser462=) n.335G>A c.375G>A (p.Ser125=) c.1320G>A (p.Ser440=) c.1272G>A (p.Ser424=) n.703G>A c.312G>A (p.Ser104=) c.183G>A (p.Ser61=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
7 | g.44145214_44145218dup | CA2573106102 | GCK | c.*1317_*1321dup (n.*1317_*1321dup) c.*439_*443dup (n.*439_*443dup) n.545_549dup c.353_357dup (p.Glu120SerfsTer?) c.1322_1326dup (p.Glu443SerfsTer?) c.1319_1323dup (p.Glu442SerfsTer?) c.1382_1386dup (p.Glu463SerfsTer?) n.331_335dup c.1319_1323dup (p.Glu442SerfsTer24) c.371_375dup (p.Glu126SerfsTer?) c.1316_1320dup (p.Glu441SerfsTer?) c.1268_1272dup (p.Glu425SerfsTer?) n.699_703dup c.308_312dup (p.Glu105SerfsTer?) c.179_183dup (p.Glu62SerfsTer24) c.179_183dup (p.Glu62SerfsTer?) | ClinVar |
7 | g.44145214_44145218del | CA2695202956 | GCK | c.*1317_*1321del (n.*1317_*1321del) c.*439_*443del (n.*439_*443del) n.545_549del c.353_357del (p.Glu118GlyfsTer17) c.1322_1326del (p.Glu441GlyfsTer17) c.1319_1323del (p.Glu440GlyfsTer17) c.1382_1386del (p.Glu461GlyfsTer17) n.331_335del c.1319_1323del (p.Glu440GlyfsTer30) c.371_375del (p.Glu124GlyfsTer17) c.1316_1320del (p.Glu439GlyfsTer17) c.1268_1272del (p.Glu423GlyfsTer17) n.699_703del c.308_312del (p.Glu103GlyfsTer17) c.179_183del (p.Glu60GlyfsTer30) c.179_183del (p.Glu60GlyfsTer17) | |
7 | g.44145212G>A | CA367397015 | GCK | c.*1320C>T (n.*1320C>T) c.*442C>T (n.*442C>T) n.548C>T c.356C>T (p.Ser119Leu) c.1325C>T (p.Ser442Leu) c.1322C>T (p.Ser441Leu) c.1385C>T (p.Ser462Leu) n.334C>T c.374C>T (p.Ser125Leu) c.1319C>T (p.Ser440Leu) c.1271C>T (p.Ser424Leu) n.702C>T c.311C>T (p.Ser104Leu) c.182C>T (p.Ser61Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145212G>C | CA367397017 | GCK | c.*1320C>G (n.*1320C>G) c.*442C>G (n.*442C>G) n.548C>G c.356C>G (p.Ser119Trp) c.1325C>G (p.Ser442Trp) c.1322C>G (p.Ser441Trp) c.1385C>G (p.Ser462Trp) n.334C>G c.374C>G (p.Ser125Trp) c.1319C>G (p.Ser440Trp) c.1271C>G (p.Ser424Trp) n.702C>G c.311C>G (p.Ser104Trp) c.182C>G (p.Ser61Trp) | ClinVar dbSNP |
7 | g.44145212G= | CA1703612678 | GCK | c.*1320C= (n.*1320C=) c.*442C= (n.*442C=) n.548C= c.356C= (p.Ser119=) c.1325C= (p.Ser442=) c.1322C= (p.Ser441=) c.1385C= (p.Ser462=) n.334C= c.374C= (p.Ser125=) c.1319C= (p.Ser440=) c.1271C= (p.Ser424=) n.702C= c.311C= (p.Ser104=) c.182C= (p.Ser61=) | |
7 | g.44145212G>T | CA367397019 | GCK | c.*1320C>A (n.*1320C>A) c.*442C>A (n.*442C>A) n.548C>A c.356C>A (p.Ser119Ter) c.1325C>A (p.Ser442Ter) c.1322C>A (p.Ser441Ter) c.1385C>A (p.Ser462Ter) n.334C>A c.374C>A (p.Ser125Ter) c.1319C>A (p.Ser440Ter) c.1271C>A (p.Ser424Ter) n.702C>A c.311C>A (p.Ser104Ter) c.182C>A (p.Ser61Ter) | ClinVar gnomAD v4 |
7 | g.44145214_44145221del | CA2580077134 | GCK | c.*1313_*1320del (n.*1313_*1320del) c.*435_*442del (n.*435_*442del) n.541_548del c.349_356del (p.Ile117GlyfsTer17) c.1318_1325del (p.Ile440GlyfsTer17) c.1315_1322del (p.Ile439GlyfsTer17) c.1378_1385del (p.Ile460GlyfsTer17) n.327_334del c.1315_1322del (p.Ile439GlyfsTer30) c.367_374del (p.Ile123GlyfsTer17) c.1312_1319del (p.Ile438GlyfsTer17) c.1264_1271del (p.Ile422GlyfsTer17) n.695_702del c.304_311del (p.Ile102GlyfsTer17) c.175_182del (p.Ile59GlyfsTer30) c.175_182del (p.Ile59GlyfsTer17) | ClinVar |
7 | g.44145213A>C | CA367397020 | GCK | c.*1319T>G (n.*1319T>G) c.*441T>G (n.*441T>G) n.547T>G c.355T>G (p.Ser119Ala) c.1324T>G (p.Ser442Ala) c.1321T>G (p.Ser441Ala) c.1384T>G (p.Ser462Ala) n.333T>G c.373T>G (p.Ser125Ala) c.1318T>G (p.Ser440Ala) c.1270T>G (p.Ser424Ala) n.701T>G c.310T>G (p.Ser104Ala) c.181T>G (p.Ser61Ala) | |
7 | g.44145213A>G | CA367397022 | GCK | c.*1319T>C (n.*1319T>C) c.*441T>C (n.*441T>C) n.547T>C c.355T>C (p.Ser119Pro) c.1324T>C (p.Ser442Pro) c.1321T>C (p.Ser441Pro) c.1384T>C (p.Ser462Pro) n.333T>C c.373T>C (p.Ser125Pro) c.1318T>C (p.Ser440Pro) c.1270T>C (p.Ser424Pro) n.701T>C c.310T>C (p.Ser104Pro) c.181T>C (p.Ser61Pro) | gnomAD v4 |
7 | g.44145213A>T | CA367397024 | GCK | c.*1319T>A (n.*1319T>A) c.*441T>A (n.*441T>A) n.547T>A c.355T>A (p.Ser119Thr) c.1324T>A (p.Ser442Thr) c.1321T>A (p.Ser441Thr) c.1384T>A (p.Ser462Thr) n.333T>A c.373T>A (p.Ser125Thr) c.1318T>A (p.Ser440Thr) c.1270T>A (p.Ser424Thr) n.701T>A c.310T>A (p.Ser104Thr) c.181T>A (p.Ser61Thr) | |
7 | g.44145214C>A | CA367397026 | GCK | c.*1318G>T (n.*1318G>T) c.*440G>T (n.*440G>T) n.546G>T c.354G>T (p.Glu118Asp) c.1323G>T (p.Glu441Asp) c.1320G>T (p.Glu440Asp) c.1383G>T (p.Glu461Asp) n.332G>T c.372G>T (p.Glu124Asp) c.1317G>T (p.Glu439Asp) c.1269G>T (p.Glu423Asp) n.700G>T c.309G>T (p.Glu103Asp) c.180G>T (p.Glu60Asp) | |
7 | g.44145214C>G | CA367397027 | GCK | c.*1318G>C (n.*1318G>C) c.*440G>C (n.*440G>C) n.546G>C c.354G>C (p.Glu118Asp) c.1323G>C (p.Glu441Asp) c.1320G>C (p.Glu440Asp) c.1383G>C (p.Glu461Asp) n.332G>C c.372G>C (p.Glu124Asp) c.1317G>C (p.Glu439Asp) c.1269G>C (p.Glu423Asp) n.700G>C c.309G>C (p.Glu103Asp) c.180G>C (p.Glu60Asp) | |
7 | g.44145214C>T | CA454606558 | GCK | c.*1318G>A (n.*1318G>A) c.*440G>A (n.*440G>A) n.546G>A c.354G>A (p.Glu118=) c.1323G>A (p.Glu441=) c.1320G>A (p.Glu440=) c.1383G>A (p.Glu461=) n.332G>A c.372G>A (p.Glu124=) c.1317G>A (p.Glu439=) c.1269G>A (p.Glu423=) n.700G>A c.309G>A (p.Glu103=) c.180G>A (p.Glu60=) | gnomAD v4 |
7 | g.44145215T>A | CA367397034 | GCK | c.*1317A>T (n.*1317A>T) c.*439A>T (n.*439A>T) n.545A>T c.353A>T (p.Glu118Val) c.1322A>T (p.Glu441Val) c.1319A>T (p.Glu440Val) c.1382A>T (p.Glu461Val) n.331A>T c.371A>T (p.Glu124Val) c.1316A>T (p.Glu439Val) c.1268A>T (p.Glu423Val) n.699A>T c.308A>T (p.Glu103Val) c.179A>T (p.Glu60Val) | |
7 | g.44145215T>C | CA367397030 | GCK | c.*1317A>G (n.*1317A>G) c.*439A>G (n.*439A>G) n.545A>G c.353A>G (p.Glu118Gly) c.1322A>G (p.Glu441Gly) c.1319A>G (p.Glu440Gly) c.1382A>G (p.Glu461Gly) n.331A>G c.371A>G (p.Glu124Gly) c.1316A>G (p.Glu439Gly) c.1268A>G (p.Glu423Gly) n.699A>G c.308A>G (p.Glu103Gly) c.179A>G (p.Glu60Gly) | ClinVar dbSNP |
7 | g.44145215T>G | CA367397032 | GCK | c.*1317A>C (n.*1317A>C) c.*439A>C (n.*439A>C) n.545A>C c.353A>C (p.Glu118Ala) c.1322A>C (p.Glu441Ala) c.1319A>C (p.Glu440Ala) c.1382A>C (p.Glu461Ala) n.331A>C c.371A>C (p.Glu124Ala) c.1316A>C (p.Glu439Ala) c.1268A>C (p.Glu423Ala) n.699A>C c.308A>C (p.Glu103Ala) c.179A>C (p.Glu60Ala) | |
7 | g.44145217_44145229del | CA2573106064 | GCK | c.*1305_*1317del (n.*1305_*1317del) c.*427_*439del (n.*427_*439del) n.533_545del c.341_353del (p.Ile114SerfsTer?) c.1310_1322del (p.Ile437SerfsTer?) c.1307_1319del (p.Ile436SerfsTer?) c.1370_1382del (p.Ile457SerfsTer?) n.319_331del c.1307_1319del (p.Ile436SerfsTer24) c.359_371del (p.Ile120SerfsTer?) c.1304_1316del (p.Ile435SerfsTer?) c.1256_1268del (p.Ile419SerfsTer?) n.687_699del c.296_308del (p.Ile99SerfsTer?) c.167_179del (p.Ile56SerfsTer24) c.167_179del (p.Ile56SerfsTer?) | ClinVar |
7 | g.44145216C>A | CA367397036 | GCK | c.*1316G>T (n.*1316G>T) c.*438G>T (n.*438G>T) n.544G>T c.352G>T (p.Glu118Ter) c.1321G>T (p.Glu441Ter) c.1318G>T (p.Glu440Ter) c.1381G>T (p.Glu461Ter) n.330G>T c.370G>T (p.Glu124Ter) c.1315G>T (p.Glu439Ter) c.1267G>T (p.Glu423Ter) n.698G>T c.307G>T (p.Glu103Ter) c.178G>T (p.Glu60Ter) | ClinVar |
7 | g.44145216C= | CA1703612679 | GCK | c.*1316G= (n.*1316G=) c.*438G= (n.*438G=) n.544G= c.352G= (p.Glu118=) c.1321G= (p.Glu441=) c.1318G= (p.Glu440=) c.1381G= (p.Glu461=) n.330G= c.370G= (p.Glu124=) c.1315G= (p.Glu439=) c.1267G= (p.Glu423=) n.698G= c.307G= (p.Glu103=) c.178G= (p.Glu60=) | |
7 | g.44145216C>G | CA367397038 | GCK | c.*1316G>C (n.*1316G>C) c.*438G>C (n.*438G>C) n.544G>C c.352G>C (p.Glu118Gln) c.1321G>C (p.Glu441Gln) c.1318G>C (p.Glu440Gln) c.1381G>C (p.Glu461Gln) n.330G>C c.370G>C (p.Glu124Gln) c.1315G>C (p.Glu439Gln) c.1267G>C (p.Glu423Gln) n.698G>C c.307G>C (p.Glu103Gln) c.178G>C (p.Glu60Gln) | gnomAD v4 |
7 | g.44145216C>T | CA367397040 | GCK | c.*1316G>A (n.*1316G>A) c.*438G>A (n.*438G>A) n.544G>A c.352G>A (p.Glu118Lys) c.1321G>A (p.Glu441Lys) c.1318G>A (p.Glu440Lys) c.1381G>A (p.Glu461Lys) n.330G>A c.370G>A (p.Glu124Lys) c.1315G>A (p.Glu439Lys) c.1267G>A (p.Glu423Lys) n.698G>A c.307G>A (p.Glu103Lys) c.178G>A (p.Glu60Lys) | dbSNP gnomAD v4 |
7 | g.44145217G>A | CA454606568 | GCK | c.*1315C>T (n.*1315C>T) c.*437C>T (n.*437C>T) n.543C>T c.351C>T (p.Ile117=) c.1320C>T (p.Ile440=) c.1317C>T (p.Ile439=) c.1380C>T (p.Ile460=) n.329C>T c.369C>T (p.Ile123=) c.1314C>T (p.Ile438=) c.1266C>T (p.Ile422=) n.697C>T c.306C>T (p.Ile102=) c.177C>T (p.Ile59=) | ClinVar dbSNP gnomAD v4 |
7 | g.44145217G>C | CA367397042 | GCK | c.*1315C>G (n.*1315C>G) c.*437C>G (n.*437C>G) n.543C>G c.351C>G (p.Ile117Met) c.1320C>G (p.Ile440Met) c.1317C>G (p.Ile439Met) c.1380C>G (p.Ile460Met) n.329C>G c.369C>G (p.Ile123Met) c.1314C>G (p.Ile438Met) c.1266C>G (p.Ile422Met) n.697C>G c.306C>G (p.Ile102Met) c.177C>G (p.Ile59Met) | gnomAD v4 |
7 | g.44145217G= | CA1703612680 | GCK | c.*1315C= (n.*1315C=) c.*437C= (n.*437C=) n.543C= c.351C= (p.Ile117=) c.1320C= (p.Ile440=) c.1317C= (p.Ile439=) c.1380C= (p.Ile460=) n.329C= c.369C= (p.Ile123=) c.1314C= (p.Ile438=) c.1266C= (p.Ile422=) n.697C= c.306C= (p.Ile102=) c.177C= (p.Ile59=) | |
7 | g.44145217G>T | CA454606572 | GCK | c.*1315C>A (n.*1315C>A) c.*437C>A (n.*437C>A) n.543C>A c.351C>A (p.Ile117=) c.1320C>A (p.Ile440=) c.1317C>A (p.Ile439=) c.1380C>A (p.Ile460=) n.329C>A c.369C>A (p.Ile123=) c.1314C>A (p.Ile438=) c.1266C>A (p.Ile422=) n.697C>A c.306C>A (p.Ile102=) c.177C>A (p.Ile59=) | |
7 | g.44145218A>C | CA367397044 | GCK | c.*1314T>G (n.*1314T>G) c.*436T>G (n.*436T>G) n.542T>G c.350T>G (p.Ile117Ser) c.1319T>G (p.Ile440Ser) c.1316T>G (p.Ile439Ser) c.1379T>G (p.Ile460Ser) n.328T>G c.368T>G (p.Ile123Ser) c.1313T>G (p.Ile438Ser) c.1265T>G (p.Ile422Ser) n.696T>G c.305T>G (p.Ile102Ser) c.176T>G (p.Ile59Ser) | |
7 | g.44145218A>G | CA367397046 | GCK | c.*1314T>C (n.*1314T>C) c.*436T>C (n.*436T>C) n.542T>C c.350T>C (p.Ile117Thr) c.1319T>C (p.Ile440Thr) c.1316T>C (p.Ile439Thr) c.1379T>C (p.Ile460Thr) n.328T>C c.368T>C (p.Ile123Thr) c.1313T>C (p.Ile438Thr) c.1265T>C (p.Ile422Thr) n.696T>C c.305T>C (p.Ile102Thr) c.176T>C (p.Ile59Thr) | gnomAD v4 |
7 | g.44145218A>T | CA367397048 | GCK | c.*1314T>A (n.*1314T>A) c.*436T>A (n.*436T>A) n.542T>A c.350T>A (p.Ile117Asn) c.1319T>A (p.Ile440Asn) c.1316T>A (p.Ile439Asn) c.1379T>A (p.Ile460Asn) n.328T>A c.368T>A (p.Ile123Asn) c.1313T>A (p.Ile438Asn) c.1265T>A (p.Ile422Asn) n.696T>A c.305T>A (p.Ile102Asn) c.176T>A (p.Ile59Asn) | |
7 | g.44145219T>A | CA367397050 | GCK | c.*1313A>T (n.*1313A>T) c.*435A>T (n.*435A>T) n.541A>T c.349A>T (p.Ile117Phe) c.1318A>T (p.Ile440Phe) c.1315A>T (p.Ile439Phe) c.1378A>T (p.Ile460Phe) n.327A>T c.367A>T (p.Ile123Phe) c.1312A>T (p.Ile438Phe) c.1264A>T (p.Ile422Phe) n.695A>T c.304A>T (p.Ile102Phe) c.175A>T (p.Ile59Phe) | |
7 | g.44145219T>C | CA367397053 | GCK | c.*1313A>G (n.*1313A>G) c.*435A>G (n.*435A>G) n.541A>G c.349A>G (p.Ile117Val) c.1318A>G (p.Ile440Val) c.1315A>G (p.Ile439Val) c.1378A>G (p.Ile460Val) n.327A>G c.367A>G (p.Ile123Val) c.1312A>G (p.Ile438Val) c.1264A>G (p.Ile422Val) n.695A>G c.304A>G (p.Ile102Val) c.175A>G (p.Ile59Val) | gnomAD v4 |
7 | g.44145219T>G | CA367397055 | GCK | c.*1313A>C (n.*1313A>C) c.*435A>C (n.*435A>C) n.541A>C c.349A>C (p.Ile117Leu) c.1318A>C (p.Ile440Leu) c.1315A>C (p.Ile439Leu) c.1378A>C (p.Ile460Leu) n.327A>C c.367A>C (p.Ile123Leu) c.1312A>C (p.Ile438Leu) c.1264A>C (p.Ile422Leu) n.695A>C c.304A>C (p.Ile102Leu) c.175A>C (p.Ile59Leu) | |
7 | g.44145220G>A | CA454606586 | GCK | c.*1312C>T (n.*1312C>T) c.*434C>T (n.*434C>T) n.540C>T c.348C>T (p.Phe116=) c.1317C>T (p.Phe439=) c.1314C>T (p.Phe438=) c.1377C>T (p.Phe459=) n.326C>T c.366C>T (p.Phe122=) c.1311C>T (p.Phe437=) c.1263C>T (p.Phe421=) n.694C>T c.303C>T (p.Phe101=) c.174C>T (p.Phe58=) | |
7 | g.44145220G>C | CA367397056 | GCK | c.*1312C>G (n.*1312C>G) c.*434C>G (n.*434C>G) n.540C>G c.348C>G (p.Phe116Leu) c.1317C>G (p.Phe439Leu) c.1314C>G (p.Phe438Leu) c.1377C>G (p.Phe459Leu) n.326C>G c.366C>G (p.Phe122Leu) c.1311C>G (p.Phe437Leu) c.1263C>G (p.Phe421Leu) n.694C>G c.303C>G (p.Phe101Leu) c.174C>G (p.Phe58Leu) | |
7 | g.44145220G>T | CA367397058 | GCK | c.*1312C>A (n.*1312C>A) c.*434C>A (n.*434C>A) n.540C>A c.348C>A (p.Phe116Leu) c.1317C>A (p.Phe439Leu) c.1314C>A (p.Phe438Leu) c.1377C>A (p.Phe459Leu) n.326C>A c.366C>A (p.Phe122Leu) c.1311C>A (p.Phe437Leu) c.1263C>A (p.Phe421Leu) n.694C>A c.303C>A (p.Phe101Leu) c.174C>A (p.Phe58Leu) | |
7 | g.44145221_44145223del | CA2017997767 | GCK | c.*1310_*1312del (n.*1310_*1312del) c.*432_*434del (n.*432_*434del) n.538_540del c.346_348del (p.Phe116del) c.1315_1317del (p.Phe439del) c.1312_1314del (p.Phe438del) c.1375_1377del (p.Phe459del) n.324_326del c.364_366del (p.Phe122del) c.1309_1311del (p.Phe437del) c.1261_1263del (p.Phe421del) n.692_694del c.301_303del (p.Phe101del) c.172_174del (p.Phe58del) | ClinVar |
7 | g.44145221A>C | CA367397063 | GCK | c.*1311T>G (n.*1311T>G) c.*433T>G (n.*433T>G) n.539T>G c.347T>G (p.Phe116Cys) c.1316T>G (p.Phe439Cys) c.1313T>G (p.Phe438Cys) c.1376T>G (p.Phe459Cys) n.325T>G c.365T>G (p.Phe122Cys) c.1310T>G (p.Phe437Cys) c.1262T>G (p.Phe421Cys) n.693T>G c.302T>G (p.Phe101Cys) c.173T>G (p.Phe58Cys) | |
7 | g.44145221A>G | CA367397065 | GCK | c.*1311T>C (n.*1311T>C) c.*433T>C (n.*433T>C) n.539T>C c.347T>C (p.Phe116Ser) c.1316T>C (p.Phe439Ser) c.1313T>C (p.Phe438Ser) c.1376T>C (p.Phe459Ser) n.325T>C c.365T>C (p.Phe122Ser) c.1310T>C (p.Phe437Ser) c.1262T>C (p.Phe421Ser) n.693T>C c.302T>C (p.Phe101Ser) c.173T>C (p.Phe58Ser) | |
7 | g.44145221A>T | CA367397060 | GCK | c.*1311T>A (n.*1311T>A) c.*433T>A (n.*433T>A) n.539T>A c.347T>A (p.Phe116Tyr) c.1316T>A (p.Phe439Tyr) c.1313T>A (p.Phe438Tyr) c.1376T>A (p.Phe459Tyr) n.325T>A c.365T>A (p.Phe122Tyr) c.1310T>A (p.Phe437Tyr) c.1262T>A (p.Phe421Tyr) n.693T>A c.302T>A (p.Phe101Tyr) c.173T>A (p.Phe58Tyr) | ClinVar |
7 | g.44145222del | CA2682580572 | GCK | c.*1311del (n.*1311del) c.*433del (n.*433del) n.539del c.347del (p.Phe116SerfsTer?) c.1316del (p.Phe439SerfsTer?) c.1313del (p.Phe438SerfsTer?) c.1376del (p.Phe459SerfsTer?) n.325del c.1313del (p.Phe438SerfsTer26) c.365del (p.Phe122SerfsTer?) c.1310del (p.Phe437SerfsTer?) c.1262del (p.Phe421SerfsTer?) n.693del c.302del (p.Phe101SerfsTer?) c.173del (p.Phe58SerfsTer26) c.173del (p.Phe58SerfsTer?) | gnomAD v4 |
7 | g.44145221_44145300delinsAAGGTGATCTCGCAGCTGGGCGTCAGCCTGCGCACGCTGGCATGGAACCGCTCCTTGAAGCTGGGCAGAAGAGAAGCAGG | CA1703612681 | GCK | c.*1252-20_*1311delinsCCTGCTTCTCTTCTGCCCAGCTTCAAGGAGCGGTTCCATGCCAGCGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTT c.*374-20_*433delinsCCTGCTTCTCTTCTGCCCAGCTTCAAGGAGCGGTTCCATGCCAGCGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTT n.480-20_539delinsCCTGCTTCTCTTCTGCCCAGCTTCAAGGAGCGGTTCCATGCCAGCGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTT c.288-20_347delinsCCTGCTTCTCTTCTGCCCAGCTTCAAGGAGCGGTTCCATGCCAGCGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTT c.1257-20_1316delinsCCTGCTTCTCTTCTGCCCAGCTTCAAGGAGCGGTTCCATGCCAGCGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTT c.1254-20_1313delinsCCTGCTTCTCTTCTGCCCAGCTTCAAGGAGCGGTTCCATGCCAGCGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTT c.1317-20_1376delinsCCTGCTTCTCTTCTGCCCAGCTTCAAGGAGCGGTTCCATGCCAGCGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTT n.266-20_325delinsCCTGCTTCTCTTCTGCCCAGCTTCAAGGAGCGGTTCCATGCCAGCGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTT c.306-20_365delinsCCTGCTTCTCTTCTGCCCAGCTTCAAGGAGCGGTTCCATGCCAGCGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTT c.1251-20_1310delinsCCTGCTTCTCTTCTGCCCAGCTTCAAGGAGCGGTTCCATGCCAGCGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTT c.1203-20_1262delinsCCTGCTTCTCTTCTGCCCAGCTTCAAGGAGCGGTTCCATGCCAGCGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTT n.634-20_693delinsCCTGCTTCTCTTCTGCCCAGCTTCAAGGAGCGGTTCCATGCCAGCGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTT c.243-20_302delinsCCTGCTTCTCTTCTGCCCAGCTTCAAGGAGCGGTTCCATGCCAGCGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTT c.114-20_173delinsCCTGCTTCTCTTCTGCCCAGCTTCAAGGAGCGGTTCCATGCCAGCGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTT | |
7 | g.44145222A>C | CA367397071 | GCK | c.*1310T>G (n.*1310T>G) c.*432T>G (n.*432T>G) n.538T>G c.346T>G (p.Phe116Val) c.1315T>G (p.Phe439Val) c.1312T>G (p.Phe438Val) c.1375T>G (p.Phe459Val) n.324T>G c.364T>G (p.Phe122Val) c.1309T>G (p.Phe437Val) c.1261T>G (p.Phe421Val) n.692T>G c.301T>G (p.Phe101Val) c.172T>G (p.Phe58Val) | ClinVar dbSNP |
7 | g.44145222A>G | CA367397068 | GCK | c.*1310T>C (n.*1310T>C) c.*432T>C (n.*432T>C) n.538T>C c.346T>C (p.Phe116Leu) c.1315T>C (p.Phe439Leu) c.1312T>C (p.Phe438Leu) c.1375T>C (p.Phe459Leu) n.324T>C c.364T>C (p.Phe122Leu) c.1309T>C (p.Phe437Leu) c.1261T>C (p.Phe421Leu) n.692T>C c.301T>C (p.Phe101Leu) c.172T>C (p.Phe58Leu) | |
7 | g.44145222A>T | CA367397069 | GCK | c.*1310T>A (n.*1310T>A) c.*432T>A (n.*432T>A) n.538T>A c.346T>A (p.Phe116Ile) c.1315T>A (p.Phe439Ile) c.1312T>A (p.Phe438Ile) c.1375T>A (p.Phe459Ile) n.324T>A c.364T>A (p.Phe122Ile) c.1309T>A (p.Phe437Ile) c.1261T>A (p.Phe421Ile) n.692T>A c.301T>A (p.Phe101Ile) c.172T>A (p.Phe58Ile) | |
7 | g.44145222_44145300del | CA1139660054 | GCK | c.*1252-20_*1310del c.*374-20_*432del n.480-20_538del c.288-20_346del c.1257-20_1315del c.1254-20_1312del c.1317-20_1375del n.266-20_324del c.306-20_364del c.1251-20_1309del c.1203-20_1261del n.634-20_692del c.243-20_301del c.114-20_172del | ClinVar dbSNP |
7 | g.44145223G>A | CA4239379 | GCK | c.*1309C>T (n.*1309C>T) c.*431C>T (n.*431C>T) n.537C>T c.345C>T (p.Thr115=) c.1314C>T (p.Thr438=) c.1311C>T (p.Thr437=) c.1374C>T (p.Thr458=) n.323C>T c.363C>T (p.Thr121=) c.1308C>T (p.Thr436=) c.1260C>T (p.Thr420=) n.691C>T c.300C>T (p.Thr100=) c.171C>T (p.Thr57=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.44145223G>C | CA454606606 | GCK | c.*1309C>G (n.*1309C>G) c.*431C>G (n.*431C>G) n.537C>G c.345C>G (p.Thr115=) c.1314C>G (p.Thr438=) c.1311C>G (p.Thr437=) c.1374C>G (p.Thr458=) n.323C>G c.363C>G (p.Thr121=) c.1308C>G (p.Thr436=) c.1260C>G (p.Thr420=) n.691C>G c.300C>G (p.Thr100=) c.171C>G (p.Thr57=) | |
7 | g.44145223G= | CA1703612682 | GCK | c.*1309C= (n.*1309C=) c.*431C= (n.*431C=) n.537C= c.345C= (p.Thr115=) c.1314C= (p.Thr438=) c.1311C= (p.Thr437=) c.1374C= (p.Thr458=) n.323C= c.363C= (p.Thr121=) c.1308C= (p.Thr436=) c.1260C= (p.Thr420=) n.691C= c.300C= (p.Thr100=) c.171C= (p.Thr57=) | |
7 | g.44145223G>T | CA454606604 | GCK | c.*1309C>A (n.*1309C>A) c.*431C>A (n.*431C>A) n.537C>A c.345C>A (p.Thr115=) c.1314C>A (p.Thr438=) c.1311C>A (p.Thr437=) c.1374C>A (p.Thr458=) n.323C>A c.363C>A (p.Thr121=) c.1308C>A (p.Thr436=) c.1260C>A (p.Thr420=) n.691C>A c.300C>A (p.Thr100=) c.171C>A (p.Thr57=) | |
7 | g.44145225_44145239del | CA2697557239 | GCK | c.*1295_*1309del (n.*1295_*1309del) c.*417_*431del (n.*417_*431del) n.523_537del c.331_345del (p.Ser111_Thr115del) c.1300_1314del (p.Ser434_Thr438del) c.1297_1311del (p.Ser433_Thr437del) c.1360_1374del (p.Ser454_Thr458del) n.309_323del c.349_363del (p.Ser117_Thr121del) c.1294_1308del (p.Ser432_Thr436del) c.1246_1260del (p.Ser416_Thr420del) n.677_691del c.286_300del (p.Ser96_Thr100del) c.157_171del (p.Ser53_Thr57del) | ClinVar |
7 | g.44145224G>A | CA367397075 | GCK | c.*1308C>T (n.*1308C>T) c.*430C>T (n.*430C>T) n.536C>T c.344C>T (p.Thr115Ile) c.1313C>T (p.Thr438Ile) c.1310C>T (p.Thr437Ile) c.1373C>T (p.Thr458Ile) n.322C>T c.362C>T (p.Thr121Ile) c.1307C>T (p.Thr436Ile) c.1259C>T (p.Thr420Ile) n.690C>T c.299C>T (p.Thr100Ile) c.170C>T (p.Thr57Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145224G>C | CA367397077 | GCK | c.*1308C>G (n.*1308C>G) c.*430C>G (n.*430C>G) n.536C>G c.344C>G (p.Thr115Ser) c.1313C>G (p.Thr438Ser) c.1310C>G (p.Thr437Ser) c.1373C>G (p.Thr458Ser) n.322C>G c.362C>G (p.Thr121Ser) c.1307C>G (p.Thr436Ser) c.1259C>G (p.Thr420Ser) n.690C>G c.299C>G (p.Thr100Ser) c.170C>G (p.Thr57Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145224G= | CA1703612683 | GCK | c.*1308C= (n.*1308C=) c.*430C= (n.*430C=) n.536C= c.344C= (p.Thr115=) c.1313C= (p.Thr438=) c.1310C= (p.Thr437=) c.1373C= (p.Thr458=) n.322C= c.362C= (p.Thr121=) c.1307C= (p.Thr436=) c.1259C= (p.Thr420=) n.690C= c.299C= (p.Thr100=) c.170C= (p.Thr57=) | |
7 | g.44145224G>T | CA367397079 | GCK | c.*1308C>A (n.*1308C>A) c.*430C>A (n.*430C>A) n.536C>A c.344C>A (p.Thr115Asn) c.1313C>A (p.Thr438Asn) c.1310C>A (p.Thr437Asn) c.1373C>A (p.Thr458Asn) n.322C>A c.362C>A (p.Thr121Asn) c.1307C>A (p.Thr436Asn) c.1259C>A (p.Thr420Asn) n.690C>A c.299C>A (p.Thr100Asn) c.170C>A (p.Thr57Asn) | gnomAD v4 |
7 | g.44145225_44145226del | CA2573106063 | GCK | c.*1307_*1308del (n.*1307_*1308del) c.*429_*430del (n.*429_*430del) n.535_536del c.343_344del (p.Thr115LeufsTer21) c.1312_1313del (p.Thr438LeufsTer21) c.1309_1310del (p.Thr437LeufsTer21) c.1372_1373del (p.Thr458LeufsTer21) n.321_322del c.1309_1310del (p.Thr437LeufsTer?) c.361_362del (p.Thr121LeufsTer21) c.1306_1307del (p.Thr436LeufsTer21) c.1258_1259del (p.Thr420LeufsTer21) n.689_690del c.298_299del (p.Thr100LeufsTer21) c.169_170del (p.Thr57LeufsTer?) c.169_170del (p.Thr57LeufsTer21) | ClinVar |
7 | g.44145225T>A | CA367397082 | GCK | c.*1307A>T (n.*1307A>T) c.*429A>T (n.*429A>T) n.535A>T c.343A>T (p.Thr115Ser) c.1312A>T (p.Thr438Ser) c.1309A>T (p.Thr437Ser) c.1372A>T (p.Thr458Ser) n.321A>T c.361A>T (p.Thr121Ser) c.1306A>T (p.Thr436Ser) c.1258A>T (p.Thr420Ser) n.689A>T c.298A>T (p.Thr100Ser) c.169A>T (p.Thr57Ser) | |
7 | g.44145225T>C | CA367397084 | GCK | c.*1307A>G (n.*1307A>G) c.*429A>G (n.*429A>G) n.535A>G c.343A>G (p.Thr115Ala) c.1312A>G (p.Thr438Ala) c.1309A>G (p.Thr437Ala) c.1372A>G (p.Thr458Ala) n.321A>G c.361A>G (p.Thr121Ala) c.1306A>G (p.Thr436Ala) c.1258A>G (p.Thr420Ala) n.689A>G c.298A>G (p.Thr100Ala) c.169A>G (p.Thr57Ala) | |
7 | g.44145225T>G | CA367397086 | GCK | c.*1307A>C (n.*1307A>C) c.*429A>C (n.*429A>C) n.535A>C c.343A>C (p.Thr115Pro) c.1312A>C (p.Thr438Pro) c.1309A>C (p.Thr437Pro) c.1372A>C (p.Thr458Pro) n.321A>C c.361A>C (p.Thr121Pro) c.1306A>C (p.Thr436Pro) c.1258A>C (p.Thr420Pro) n.689A>C c.298A>C (p.Thr100Pro) c.169A>C (p.Thr57Pro) | ClinVar dbSNP |
7 | g.44145225T= | CA1703612684 | GCK | c.*1307A= (n.*1307A=) c.*429A= (n.*429A=) n.535A= c.343A= (p.Thr115=) c.1312A= (p.Thr438=) c.1309A= (p.Thr437=) c.1372A= (p.Thr458=) n.321A= c.361A= (p.Thr121=) c.1306A= (p.Thr436=) c.1258A= (p.Thr420=) n.689A= c.298A= (p.Thr100=) c.169A= (p.Thr57=) | |
7 | g.44145227_44145238del | CA2580617739 | GCK | c.*1296_*1307del (n.*1296_*1307del) c.*418_*429del (n.*418_*429del) n.524_535del c.332_343del (p.Ser111_Ile114del) c.1301_1312del (p.Ser434_Ile437del) c.1298_1309del (p.Ser433_Ile436del) c.1361_1372del (p.Ser454_Ile457del) n.310_321del c.350_361del (p.Ser117_Ile120del) c.1295_1306del (p.Ser432_Ile435del) c.1247_1258del (p.Ser416_Ile419del) n.678_689del c.287_298del (p.Ser96_Ile99del) c.158_169del (p.Ser53_Ile56del) | ClinVar |
7 | g.44145226G>A | CA454606620 | GCK | c.*1306C>T (n.*1306C>T) c.*428C>T (n.*428C>T) n.534C>T c.342C>T (p.Ile114=) c.1311C>T (p.Ile437=) c.1308C>T (p.Ile436=) c.1371C>T (p.Ile457=) n.320C>T c.360C>T (p.Ile120=) c.1305C>T (p.Ile435=) c.1257C>T (p.Ile419=) n.688C>T c.297C>T (p.Ile99=) c.168C>T (p.Ile56=) | |
7 | g.44145226G>C | CA367397087 | GCK | c.*1306C>G (n.*1306C>G) c.*428C>G (n.*428C>G) n.534C>G c.342C>G (p.Ile114Met) c.1311C>G (p.Ile437Met) c.1308C>G (p.Ile436Met) c.1371C>G (p.Ile457Met) n.320C>G c.360C>G (p.Ile120Met) c.1305C>G (p.Ile435Met) c.1257C>G (p.Ile419Met) n.688C>G c.297C>G (p.Ile99Met) c.168C>G (p.Ile56Met) | |
7 | g.44145226G= | CA1703612685 | GCK | c.*1306C= (n.*1306C=) c.*428C= (n.*428C=) n.534C= c.342C= (p.Ile114=) c.1311C= (p.Ile437=) c.1308C= (p.Ile436=) c.1371C= (p.Ile457=) n.320C= c.360C= (p.Ile120=) c.1305C= (p.Ile435=) c.1257C= (p.Ile419=) n.688C= c.297C= (p.Ile99=) c.168C= (p.Ile56=) | |
7 | g.44145226G>T | CA454606622 | GCK | c.*1306C>A (n.*1306C>A) c.*428C>A (n.*428C>A) n.534C>A c.342C>A (p.Ile114=) c.1311C>A (p.Ile437=) c.1308C>A (p.Ile436=) c.1371C>A (p.Ile457=) n.320C>A c.360C>A (p.Ile120=) c.1305C>A (p.Ile435=) c.1257C>A (p.Ile419=) n.688C>A c.297C>A (p.Ile99=) c.168C>A (p.Ile56=) | dbSNP gnomAD v2 |
7 | g.44145227A= | CA1703612686 | GCK | c.*1305T= (n.*1305T=) c.*427T= (n.*427T=) n.533T= c.341T= (p.Ile114=) c.1310T= (p.Ile437=) c.1307T= (p.Ile436=) c.1370T= (p.Ile457=) n.319T= c.359T= (p.Ile120=) c.1304T= (p.Ile435=) c.1256T= (p.Ile419=) n.687T= c.296T= (p.Ile99=) c.167T= (p.Ile56=) | |
7 | g.44145227A>C | CA367397089 | GCK | c.*1305T>G (n.*1305T>G) c.*427T>G (n.*427T>G) n.533T>G c.341T>G (p.Ile114Ser) c.1310T>G (p.Ile437Ser) c.1307T>G (p.Ile436Ser) c.1370T>G (p.Ile457Ser) n.319T>G c.359T>G (p.Ile120Ser) c.1304T>G (p.Ile435Ser) c.1256T>G (p.Ile419Ser) n.687T>G c.296T>G (p.Ile99Ser) c.167T>G (p.Ile56Ser) | |
7 | g.44145227A>G | CA367397091 | GCK | c.*1305T>C (n.*1305T>C) c.*427T>C (n.*427T>C) n.533T>C c.341T>C (p.Ile114Thr) c.1310T>C (p.Ile437Thr) c.1307T>C (p.Ile436Thr) c.1370T>C (p.Ile457Thr) n.319T>C c.359T>C (p.Ile120Thr) c.1304T>C (p.Ile435Thr) c.1256T>C (p.Ile419Thr) n.687T>C c.296T>C (p.Ile99Thr) c.167T>C (p.Ile56Thr) | |
7 | g.44145227A>T | CA213751 | GCK | c.*1305T>A (n.*1305T>A) c.*427T>A (n.*427T>A) n.533T>A c.341T>A (p.Ile114Asn) c.1310T>A (p.Ile437Asn) c.1307T>A (p.Ile436Asn) c.1370T>A (p.Ile457Asn) n.319T>A c.359T>A (p.Ile120Asn) c.1304T>A (p.Ile435Asn) c.1256T>A (p.Ile419Asn) n.687T>A c.296T>A (p.Ile99Asn) c.167T>A (p.Ile56Asn) | ClinVar dbSNP |
7 | g.44145228T>A | CA367397094 | GCK | c.*1304A>T (n.*1304A>T) c.*426A>T (n.*426A>T) n.532A>T c.340A>T (p.Ile114Phe) c.1309A>T (p.Ile437Phe) c.1306A>T (p.Ile436Phe) c.1369A>T (p.Ile457Phe) n.318A>T c.358A>T (p.Ile120Phe) c.1303A>T (p.Ile435Phe) c.1255A>T (p.Ile419Phe) n.686A>T c.295A>T (p.Ile99Phe) c.166A>T (p.Ile56Phe) | ClinVar gnomAD v4 |
7 | g.44145228T>C | CA4239380 | GCK | c.*1304A>G (n.*1304A>G) c.*426A>G (n.*426A>G) n.532A>G c.340A>G (p.Ile114Val) c.1309A>G (p.Ile437Val) c.1306A>G (p.Ile436Val) c.1369A>G (p.Ile457Val) n.318A>G c.358A>G (p.Ile120Val) c.1303A>G (p.Ile435Val) c.1255A>G (p.Ile419Val) n.686A>G c.295A>G (p.Ile99Val) c.166A>G (p.Ile56Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.44145228T>G | CA367397096 | GCK | c.*1304A>C (n.*1304A>C) c.*426A>C (n.*426A>C) n.532A>C c.340A>C (p.Ile114Leu) c.1309A>C (p.Ile437Leu) c.1306A>C (p.Ile436Leu) c.1369A>C (p.Ile457Leu) n.318A>C c.358A>C (p.Ile120Leu) c.1303A>C (p.Ile435Leu) c.1255A>C (p.Ile419Leu) n.686A>C c.295A>C (p.Ile99Leu) c.166A>C (p.Ile56Leu) | |
7 | g.44145228T= | CA1703612687 | GCK | c.*1304A= (n.*1304A=) c.*426A= (n.*426A=) n.532A= c.340A= (p.Ile114=) c.1309A= (p.Ile437=) c.1306A= (p.Ile436=) c.1369A= (p.Ile457=) n.318A= c.358A= (p.Ile120=) c.1303A= (p.Ile435=) c.1255A= (p.Ile419=) n.686A= c.295A= (p.Ile99=) c.166A= (p.Ile56=) | |
7 | g.44145228_44145231dup | CA2573106066 | GCK | c.*1301_*1304dup (n.*1301_*1304dup) c.*423_*426dup (n.*423_*426dup) n.529_532dup c.337_340dup (p.Ile114ArgfsTer24) c.1306_1309dup (p.Ile437ArgfsTer24) c.1303_1306dup (p.Ile436ArgfsTer24) c.1366_1369dup (p.Ile457ArgfsTer24) n.315_318dup c.1303_1306dup (p.Ile436ArgfsTer?) c.355_358dup (p.Ile120ArgfsTer24) c.1300_1303dup (p.Ile435ArgfsTer24) c.1252_1255dup (p.Ile419ArgfsTer24) n.683_686dup c.292_295dup (p.Ile99ArgfsTer24) c.163_166dup (p.Ile56ArgfsTer?) c.163_166dup (p.Ile56ArgfsTer24) | ClinVar |
7 | g.44145229C>A | CA367397099 | GCK | c.*1303G>T (n.*1303G>T) c.*425G>T (n.*425G>T) n.531G>T c.339G>T (p.Glu113Asp) c.1308G>T (p.Glu436Asp) c.1305G>T (p.Glu435Asp) c.1368G>T (p.Glu456Asp) n.317G>T c.357G>T (p.Glu119Asp) c.1302G>T (p.Glu434Asp) c.1254G>T (p.Glu418Asp) n.685G>T c.294G>T (p.Glu98Asp) c.165G>T (p.Glu55Asp) | |
7 | g.44145229C>G | CA367397100 | GCK | c.*1303G>C (n.*1303G>C) c.*425G>C (n.*425G>C) n.531G>C c.339G>C (p.Glu113Asp) c.1308G>C (p.Glu436Asp) c.1305G>C (p.Glu435Asp) c.1368G>C (p.Glu456Asp) n.317G>C c.357G>C (p.Glu119Asp) c.1302G>C (p.Glu434Asp) c.1254G>C (p.Glu418Asp) n.685G>C c.294G>C (p.Glu98Asp) c.165G>C (p.Glu55Asp) | |
7 | g.44145229C>T | CA454606639 | GCK | c.*1303G>A (n.*1303G>A) c.*425G>A (n.*425G>A) n.531G>A c.339G>A (p.Glu113=) c.1308G>A (p.Glu436=) c.1305G>A (p.Glu435=) c.1368G>A (p.Glu456=) n.317G>A c.357G>A (p.Glu119=) c.1302G>A (p.Glu434=) c.1254G>A (p.Glu418=) n.685G>A c.294G>A (p.Glu98=) c.165G>A (p.Glu55=) | |
7 | g.44145229dup | CA2573106065 | GCK | c.*1303dup (n.*1303dup) c.*425dup (n.*425dup) n.531dup c.339dup (p.Ile114AspfsTer23) c.1308dup (p.Ile437AspfsTer23) c.1305dup (p.Ile436AspfsTer23) c.1368dup (p.Ile457AspfsTer23) n.317dup c.1305dup (p.Ile436AspfsTer?) c.357dup (p.Ile120AspfsTer23) c.1302dup (p.Ile435AspfsTer23) c.1254dup (p.Ile419AspfsTer23) n.685dup c.294dup (p.Ile99AspfsTer23) c.165dup (p.Ile56AspfsTer?) c.165dup (p.Ile56AspfsTer23) | ClinVar |
7 | g.44145230T>A | CA367397102 | GCK | c.*1302A>T (n.*1302A>T) c.*424A>T (n.*424A>T) n.530A>T c.338A>T (p.Glu113Val) c.1307A>T (p.Glu436Val) c.1304A>T (p.Glu435Val) c.1367A>T (p.Glu456Val) n.316A>T c.356A>T (p.Glu119Val) c.1301A>T (p.Glu434Val) c.1253A>T (p.Glu418Val) n.684A>T c.293A>T (p.Glu98Val) c.164A>T (p.Glu55Val) | |
7 | g.44145230T>C | CA501217 | GCK | c.*1302A>G (n.*1302A>G) c.*424A>G (n.*424A>G) n.530A>G c.338A>G (p.Glu113Gly) c.1307A>G (p.Glu436Gly) c.1304A>G (p.Glu435Gly) c.1367A>G (p.Glu456Gly) n.316A>G c.356A>G (p.Glu119Gly) c.1301A>G (p.Glu434Gly) c.1253A>G (p.Glu418Gly) n.684A>G c.293A>G (p.Glu98Gly) c.164A>G (p.Glu55Gly) | |
7 | g.44145230T>G | CA367397105 | GCK | c.*1302A>C (n.*1302A>C) c.*424A>C (n.*424A>C) n.530A>C c.338A>C (p.Glu113Ala) c.1307A>C (p.Glu436Ala) c.1304A>C (p.Glu435Ala) c.1367A>C (p.Glu456Ala) n.316A>C c.356A>C (p.Glu119Ala) c.1301A>C (p.Glu434Ala) c.1253A>C (p.Glu418Ala) n.684A>C c.293A>C (p.Glu98Ala) c.164A>C (p.Glu55Ala) | |
7 | g.44145231C>A | CA367397107 | GCK | c.*1301G>T (n.*1301G>T) c.*423G>T (n.*423G>T) n.529G>T c.337G>T (p.Glu113Ter) c.1306G>T (p.Glu436Ter) c.1303G>T (p.Glu435Ter) c.1366G>T (p.Glu456Ter) n.315G>T c.355G>T (p.Glu119Ter) c.1300G>T (p.Glu434Ter) c.1252G>T (p.Glu418Ter) n.683G>T c.292G>T (p.Glu98Ter) c.163G>T (p.Glu55Ter) | |
7 | g.44145231C= | CA1703612688 | GCK | c.*1301G= (n.*1301G=) c.*423G= (n.*423G=) n.529G= c.337G= (p.Glu113=) c.1306G= (p.Glu436=) c.1303G= (p.Glu435=) c.1366G= (p.Glu456=) n.315G= c.355G= (p.Glu119=) c.1300G= (p.Glu434=) c.1252G= (p.Glu418=) n.683G= c.292G= (p.Glu98=) c.163G= (p.Glu55=) | |
7 | g.44145231C>G | CA367397108 | GCK | c.*1301G>C (n.*1301G>C) c.*423G>C (n.*423G>C) n.529G>C c.337G>C (p.Glu113Gln) c.1306G>C (p.Glu436Gln) c.1303G>C (p.Glu435Gln) c.1366G>C (p.Glu456Gln) n.315G>C c.355G>C (p.Glu119Gln) c.1300G>C (p.Glu434Gln) c.1252G>C (p.Glu418Gln) n.683G>C c.292G>C (p.Glu98Gln) c.163G>C (p.Glu55Gln) | |
7 | g.44145231C>T | CA367397110 | GCK | c.*1301G>A (n.*1301G>A) c.*423G>A (n.*423G>A) n.529G>A c.337G>A (p.Glu113Lys) c.1306G>A (p.Glu436Lys) c.1303G>A (p.Glu435Lys) c.1366G>A (p.Glu456Lys) n.315G>A c.355G>A (p.Glu119Lys) c.1300G>A (p.Glu434Lys) c.1252G>A (p.Glu418Lys) n.683G>A c.292G>A (p.Glu98Lys) c.163G>A (p.Glu55Lys) | dbSNP gnomAD v4 |
7 | g.44145232G>A | CA4239381 | GCK | c.*1300C>T (n.*1300C>T) c.*422C>T (n.*422C>T) n.528C>T c.336C>T (p.Cys112=) c.1305C>T (p.Cys435=) c.1302C>T (p.Cys434=) c.1365C>T (p.Cys455=) n.314C>T c.354C>T (p.Cys118=) c.1299C>T (p.Cys433=) c.1251C>T (p.Cys417=) n.682C>T c.291C>T (p.Cys97=) c.162C>T (p.Cys54=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44145232G>C | CA367397112 | GCK | c.*1300C>G (n.*1300C>G) c.*422C>G (n.*422C>G) n.528C>G c.336C>G (p.Cys112Trp) c.1305C>G (p.Cys435Trp) c.1302C>G (p.Cys434Trp) c.1365C>G (p.Cys455Trp) n.314C>G c.354C>G (p.Cys118Trp) c.1299C>G (p.Cys433Trp) c.1251C>G (p.Cys417Trp) n.682C>G c.291C>G (p.Cys97Trp) c.162C>G (p.Cys54Trp) | |
7 | g.44145232G= | CA1703612689 | GCK | c.*1300C= (n.*1300C=) c.*422C= (n.*422C=) n.528C= c.336C= (p.Cys112=) c.1305C= (p.Cys435=) c.1302C= (p.Cys434=) c.1365C= (p.Cys455=) n.314C= c.354C= (p.Cys118=) c.1299C= (p.Cys433=) c.1251C= (p.Cys417=) n.682C= c.291C= (p.Cys97=) c.162C= (p.Cys54=) | |
7 | g.44145232G>T | CA367397114 | GCK | c.*1300C>A (n.*1300C>A) c.*422C>A (n.*422C>A) n.528C>A c.336C>A (p.Cys112Ter) c.1305C>A (p.Cys435Ter) c.1302C>A (p.Cys434Ter) c.1365C>A (p.Cys455Ter) n.314C>A c.354C>A (p.Cys118Ter) c.1299C>A (p.Cys433Ter) c.1251C>A (p.Cys417Ter) n.682C>A c.291C>A (p.Cys97Ter) c.162C>A (p.Cys54Ter) | ClinVar gnomAD v4 |