| 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.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.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.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.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) | 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) |