Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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.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.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.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.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.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 |
7 | g.44145233C>A | CA367397119 | GCK | c.*1299G>T (n.*1299G>T) c.*421G>T (n.*421G>T) n.527G>T c.335G>T (p.Cys112Phe) c.1304G>T (p.Cys435Phe) c.1301G>T (p.Cys434Phe) c.1364G>T (p.Cys455Phe) n.313G>T c.353G>T (p.Cys118Phe) c.1298G>T (p.Cys433Phe) c.1250G>T (p.Cys417Phe) n.681G>T c.290G>T (p.Cys97Phe) c.161G>T (p.Cys54Phe) | |
7 | g.44145233C>G | CA367397120 | GCK | c.*1299G>C (n.*1299G>C) c.*421G>C (n.*421G>C) n.527G>C c.335G>C (p.Cys112Ser) c.1304G>C (p.Cys435Ser) c.1301G>C (p.Cys434Ser) c.1364G>C (p.Cys455Ser) n.313G>C c.353G>C (p.Cys118Ser) c.1298G>C (p.Cys433Ser) c.1250G>C (p.Cys417Ser) n.681G>C c.290G>C (p.Cys97Ser) c.161G>C (p.Cys54Ser) | |
7 | g.44145233C>T | CA367397117 | GCK | c.*1299G>A (n.*1299G>A) c.*421G>A (n.*421G>A) n.527G>A c.335G>A (p.Cys112Tyr) c.1304G>A (p.Cys435Tyr) c.1301G>A (p.Cys434Tyr) c.1364G>A (p.Cys455Tyr) n.313G>A c.353G>A (p.Cys118Tyr) c.1298G>A (p.Cys433Tyr) c.1250G>A (p.Cys417Tyr) n.681G>A c.290G>A (p.Cys97Tyr) c.161G>A (p.Cys54Tyr) | |
7 | g.44145234A>C | CA367397123 | GCK | c.*1298T>G (n.*1298T>G) c.*420T>G (n.*420T>G) n.526T>G c.334T>G (p.Cys112Gly) c.1303T>G (p.Cys435Gly) c.1300T>G (p.Cys434Gly) c.1363T>G (p.Cys455Gly) n.312T>G c.352T>G (p.Cys118Gly) c.1297T>G (p.Cys433Gly) c.1249T>G (p.Cys417Gly) n.680T>G c.289T>G (p.Cys97Gly) c.160T>G (p.Cys54Gly) | |
7 | g.44145234A>G | CA367397125 | GCK | c.*1298T>C (n.*1298T>C) c.*420T>C (n.*420T>C) n.526T>C c.334T>C (p.Cys112Arg) c.1303T>C (p.Cys435Arg) c.1300T>C (p.Cys434Arg) c.1363T>C (p.Cys455Arg) n.312T>C c.352T>C (p.Cys118Arg) c.1297T>C (p.Cys433Arg) c.1249T>C (p.Cys417Arg) n.680T>C c.289T>C (p.Cys97Arg) c.160T>C (p.Cys54Arg) | |
7 | g.44145234A>T | CA367397126 | GCK | c.*1298T>A (n.*1298T>A) c.*420T>A (n.*420T>A) n.526T>A c.334T>A (p.Cys112Ser) c.1303T>A (p.Cys435Ser) c.1300T>A (p.Cys434Ser) c.1363T>A (p.Cys455Ser) n.312T>A c.352T>A (p.Cys118Ser) c.1297T>A (p.Cys433Ser) c.1249T>A (p.Cys417Ser) n.680T>A c.289T>A (p.Cys97Ser) c.160T>A (p.Cys54Ser) | |
7 | g.44145234_44145237dup | CA1139771343 | GCK | c.*1295_*1298dup (n.*1295_*1298dup) c.*417_*420dup (n.*417_*420dup) n.523_526dup c.331_334dup (p.Cys112Ter) c.1300_1303dup (p.Cys435Ter) c.1297_1300dup (p.Cys434Ter) c.1360_1363dup (p.Cys455Ter) n.309_312dup c.349_352dup (p.Cys118Ter) c.1294_1297dup (p.Cys433Ter) c.1246_1249dup (p.Cys417Ter) n.677_680dup c.286_289dup (p.Cys97Ter) c.157_160dup (p.Cys54Ter) | ClinVar |
7 | g.44145235G>A | CA454606654 | GCK | c.*1297C>T (n.*1297C>T) c.*419C>T (n.*419C>T) n.525C>T c.333C>T (p.Ser111=) c.1302C>T (p.Ser434=) c.1299C>T (p.Ser433=) c.1362C>T (p.Ser454=) n.311C>T c.351C>T (p.Ser117=) c.1296C>T (p.Ser432=) c.1248C>T (p.Ser416=) n.679C>T c.288C>T (p.Ser96=) c.159C>T (p.Ser53=) | |
7 | g.44145235G>C | CA367397129 | GCK | c.*1297C>G (n.*1297C>G) c.*419C>G (n.*419C>G) n.525C>G c.333C>G (p.Ser111Arg) c.1302C>G (p.Ser434Arg) c.1299C>G (p.Ser433Arg) c.1362C>G (p.Ser454Arg) n.311C>G c.351C>G (p.Ser117Arg) c.1296C>G (p.Ser432Arg) c.1248C>G (p.Ser416Arg) n.679C>G c.288C>G (p.Ser96Arg) c.159C>G (p.Ser53Arg) | |
7 | g.44145235G>T | CA367397131 | GCK | c.*1297C>A (n.*1297C>A) c.*419C>A (n.*419C>A) n.525C>A c.333C>A (p.Ser111Arg) c.1302C>A (p.Ser434Arg) c.1299C>A (p.Ser433Arg) c.1362C>A (p.Ser454Arg) n.311C>A c.351C>A (p.Ser117Arg) c.1296C>A (p.Ser432Arg) c.1248C>A (p.Ser416Arg) n.679C>A c.288C>A (p.Ser96Arg) c.159C>A (p.Ser53Arg) | |
7 | g.44145236C>A | CA367397137 | GCK | c.*1296G>T (n.*1296G>T) c.*418G>T (n.*418G>T) n.524G>T c.332G>T (p.Ser111Ile) c.1301G>T (p.Ser434Ile) c.1298G>T (p.Ser433Ile) c.1361G>T (p.Ser454Ile) n.310G>T c.350G>T (p.Ser117Ile) c.1295G>T (p.Ser432Ile) c.1247G>T (p.Ser416Ile) n.678G>T c.287G>T (p.Ser96Ile) c.158G>T (p.Ser53Ile) | |
7 | g.44145236C>G | CA367397135 | GCK | c.*1296G>C (n.*1296G>C) c.*418G>C (n.*418G>C) n.524G>C c.332G>C (p.Ser111Thr) c.1301G>C (p.Ser434Thr) c.1298G>C (p.Ser433Thr) c.1361G>C (p.Ser454Thr) n.310G>C c.350G>C (p.Ser117Thr) c.1295G>C (p.Ser432Thr) c.1247G>C (p.Ser416Thr) n.678G>C c.287G>C (p.Ser96Thr) c.158G>C (p.Ser53Thr) | |
7 | g.44145236C>T | CA367397133 | GCK | c.*1296G>A (n.*1296G>A) c.*418G>A (n.*418G>A) n.524G>A c.332G>A (p.Ser111Asn) c.1301G>A (p.Ser434Asn) c.1298G>A (p.Ser433Asn) c.1361G>A (p.Ser454Asn) n.310G>A c.350G>A (p.Ser117Asn) c.1295G>A (p.Ser432Asn) c.1247G>A (p.Ser416Asn) n.678G>A c.287G>A (p.Ser96Asn) c.158G>A (p.Ser53Asn) | COSMIC COSMIC COSMIC |
7 | g.44145237T>A | CA367397138 | GCK | c.*1295A>T (n.*1295A>T) c.*417A>T (n.*417A>T) n.523A>T c.331A>T (p.Ser111Cys) c.1300A>T (p.Ser434Cys) c.1297A>T (p.Ser433Cys) c.1360A>T (p.Ser454Cys) n.309A>T c.349A>T (p.Ser117Cys) c.1294A>T (p.Ser432Cys) c.1246A>T (p.Ser416Cys) n.677A>T c.286A>T (p.Ser96Cys) c.157A>T (p.Ser53Cys) | |
7 | g.44145237T>C | CA367397139 | GCK | c.*1295A>G (n.*1295A>G) c.*417A>G (n.*417A>G) n.523A>G c.331A>G (p.Ser111Gly) c.1300A>G (p.Ser434Gly) c.1297A>G (p.Ser433Gly) c.1360A>G (p.Ser454Gly) n.309A>G c.349A>G (p.Ser117Gly) c.1294A>G (p.Ser432Gly) c.1246A>G (p.Ser416Gly) n.677A>G c.286A>G (p.Ser96Gly) c.157A>G (p.Ser53Gly) | |
7 | g.44145237T>G | CA367397140 | GCK | c.*1295A>C (n.*1295A>C) c.*417A>C (n.*417A>C) n.523A>C c.331A>C (p.Ser111Arg) c.1300A>C (p.Ser434Arg) c.1297A>C (p.Ser433Arg) c.1360A>C (p.Ser454Arg) n.309A>C c.349A>C (p.Ser117Arg) c.1294A>C (p.Ser432Arg) c.1246A>C (p.Ser416Arg) n.677A>C c.286A>C (p.Ser96Arg) c.157A>C (p.Ser53Arg) | |
7 | g.44145237_44145239delinsCGGC | CA1139771354 | GCK | c.*1293_*1295delinsGCCG (n.*1293_*1295delinsGCCG) c.*415_*417delinsGCCG (n.*415_*417delinsGCCG) n.521_523delinsGCCG c.329_331delinsGCCG (p.Pro110ArgfsTer27) c.1298_1300delinsGCCG (p.Pro433ArgfsTer27) c.1295_1297delinsGCCG (p.Pro432ArgfsTer27) c.1358_1360delinsGCCG (p.Pro453ArgfsTer27) n.307_309delinsGCCG c.1295_1297delinsGCCG (p.Pro432ArgfsTer?) c.347_349delinsGCCG (p.Pro116ArgfsTer27) c.1292_1294delinsGCCG (p.Pro431ArgfsTer27) c.1244_1246delinsGCCG (p.Pro415ArgfsTer27) n.675_677delinsGCCG c.284_286delinsGCCG (p.Pro95ArgfsTer27) c.155_157delinsGCCG (p.Pro52ArgfsTer?) c.155_157delinsGCCG (p.Pro52ArgfsTer27) | ClinVar |
7 | g.44145238G>A | CA454606670 | GCK | c.*1294C>T (n.*1294C>T) c.*416C>T (n.*416C>T) n.522C>T c.330C>T (p.Pro110=) c.1299C>T (p.Pro433=) c.1296C>T (p.Pro432=) c.1359C>T (p.Pro453=) n.308C>T c.348C>T (p.Pro116=) c.1293C>T (p.Pro431=) c.1245C>T (p.Pro415=) n.676C>T c.285C>T (p.Pro95=) c.156C>T (p.Pro52=) | gnomAD v4 |
7 | g.44145238G>C | CA454606672 | GCK | c.*1294C>G (n.*1294C>G) c.*416C>G (n.*416C>G) n.522C>G c.330C>G (p.Pro110=) c.1299C>G (p.Pro433=) c.1296C>G (p.Pro432=) c.1359C>G (p.Pro453=) n.308C>G c.348C>G (p.Pro116=) c.1293C>G (p.Pro431=) c.1245C>G (p.Pro415=) n.676C>G c.285C>G (p.Pro95=) c.156C>G (p.Pro52=) | |
7 | g.44145238G>T | CA454606674 | GCK | c.*1294C>A (n.*1294C>A) c.*416C>A (n.*416C>A) n.522C>A c.330C>A (p.Pro110=) c.1299C>A (p.Pro433=) c.1296C>A (p.Pro432=) c.1359C>A (p.Pro453=) n.308C>A c.348C>A (p.Pro116=) c.1293C>A (p.Pro431=) c.1245C>A (p.Pro415=) n.676C>A c.285C>A (p.Pro95=) c.156C>A (p.Pro52=) | gnomAD v4 |
7 | g.44145239G>A | CA367397142 | GCK | c.*1293C>T (n.*1293C>T) c.*415C>T (n.*415C>T) n.521C>T c.329C>T (p.Pro110Leu) c.1298C>T (p.Pro433Leu) c.1295C>T (p.Pro432Leu) c.1358C>T (p.Pro453Leu) n.307C>T c.347C>T (p.Pro116Leu) c.1292C>T (p.Pro431Leu) c.1244C>T (p.Pro415Leu) n.675C>T c.284C>T (p.Pro95Leu) c.155C>T (p.Pro52Leu) | |
7 | g.44145239G>C | CA367397144 | GCK | c.*1293C>G (n.*1293C>G) c.*415C>G (n.*415C>G) n.521C>G c.329C>G (p.Pro110Arg) c.1298C>G (p.Pro433Arg) c.1295C>G (p.Pro432Arg) c.1358C>G (p.Pro453Arg) n.307C>G c.347C>G (p.Pro116Arg) c.1292C>G (p.Pro431Arg) c.1244C>G (p.Pro415Arg) n.675C>G c.284C>G (p.Pro95Arg) c.155C>G (p.Pro52Arg) | |
7 | g.44145239G>T | CA367397146 | GCK | c.*1293C>A (n.*1293C>A) c.*415C>A (n.*415C>A) n.521C>A c.329C>A (p.Pro110His) c.1298C>A (p.Pro433His) c.1295C>A (p.Pro432His) c.1358C>A (p.Pro453His) n.307C>A c.347C>A (p.Pro116His) c.1292C>A (p.Pro431His) c.1244C>A (p.Pro415His) n.675C>A c.284C>A (p.Pro95His) c.155C>A (p.Pro52His) | |
7 | g.44145240G>A | CA367397148 | GCK | c.*1292C>T (n.*1292C>T) c.*414C>T (n.*414C>T) n.520C>T c.328C>T (p.Pro110Ser) c.1297C>T (p.Pro433Ser) c.1294C>T (p.Pro432Ser) c.1357C>T (p.Pro453Ser) n.306C>T c.346C>T (p.Pro116Ser) c.1291C>T (p.Pro431Ser) c.1243C>T (p.Pro415Ser) n.674C>T c.283C>T (p.Pro95Ser) c.154C>T (p.Pro52Ser) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.44145240G>C | CA367397152 | GCK | c.*1292C>G (n.*1292C>G) c.*414C>G (n.*414C>G) n.520C>G c.328C>G (p.Pro110Ala) c.1297C>G (p.Pro433Ala) c.1294C>G (p.Pro432Ala) c.1357C>G (p.Pro453Ala) n.306C>G c.346C>G (p.Pro116Ala) c.1291C>G (p.Pro431Ala) c.1243C>G (p.Pro415Ala) n.674C>G c.283C>G (p.Pro95Ala) c.154C>G (p.Pro52Ala) | |
7 | g.44145240G= | CA1703612690 | GCK | c.*1292C= (n.*1292C=) c.*414C= (n.*414C=) n.520C= c.328C= (p.Pro110=) c.1297C= (p.Pro433=) c.1294C= (p.Pro432=) c.1357C= (p.Pro453=) n.306C= c.346C= (p.Pro116=) c.1291C= (p.Pro431=) c.1243C= (p.Pro415=) n.674C= c.283C= (p.Pro95=) c.154C= (p.Pro52=) | |
7 | g.44145240G>T | CA367397150 | GCK | c.*1292C>A (n.*1292C>A) c.*414C>A (n.*414C>A) n.520C>A c.328C>A (p.Pro110Thr) c.1297C>A (p.Pro433Thr) c.1294C>A (p.Pro432Thr) c.1357C>A (p.Pro453Thr) n.306C>A c.346C>A (p.Pro116Thr) c.1291C>A (p.Pro431Thr) c.1243C>A (p.Pro415Thr) n.674C>A c.283C>A (p.Pro95Thr) c.154C>A (p.Pro52Thr) | |
7 | g.44145241C>A | CA454606687 | GCK | c.*1291G>T (n.*1291G>T) c.*413G>T (n.*413G>T) n.519G>T c.327G>T (p.Thr109=) c.1296G>T (p.Thr432=) c.1293G>T (p.Thr431=) c.1356G>T (p.Thr452=) n.305G>T c.345G>T (p.Thr115=) c.1290G>T (p.Thr430=) c.1242G>T (p.Thr414=) n.673G>T c.282G>T (p.Thr94=) c.153G>T (p.Thr51=) | gnomAD v4 |
7 | g.44145241C= | CA1703612691 | GCK | c.*1291G= (n.*1291G=) c.*413G= (n.*413G=) n.519G= c.327G= (p.Thr109=) c.1296G= (p.Thr432=) c.1293G= (p.Thr431=) c.1356G= (p.Thr452=) n.305G= c.345G= (p.Thr115=) c.1290G= (p.Thr430=) c.1242G= (p.Thr414=) n.673G= c.282G= (p.Thr94=) c.153G= (p.Thr51=) | |
7 | g.44145241C>G | CA4239382 | GCK | c.*1291G>C (n.*1291G>C) c.*413G>C (n.*413G>C) n.519G>C c.327G>C (p.Thr109=) c.1296G>C (p.Thr432=) c.1293G>C (p.Thr431=) c.1356G>C (p.Thr452=) n.305G>C c.345G>C (p.Thr115=) c.1290G>C (p.Thr430=) c.1242G>C (p.Thr414=) n.673G>C c.282G>C (p.Thr94=) c.153G>C (p.Thr51=) | dbSNP ExAC gnomAD v2 |
7 | g.44145241C>T | CA454606689 | GCK | c.*1291G>A (n.*1291G>A) c.*413G>A (n.*413G>A) n.519G>A c.327G>A (p.Thr109=) c.1296G>A (p.Thr432=) c.1293G>A (p.Thr431=) c.1356G>A (p.Thr452=) n.305G>A c.345G>A (p.Thr115=) c.1290G>A (p.Thr430=) c.1242G>A (p.Thr414=) n.673G>A c.282G>A (p.Thr94=) c.153G>A (p.Thr51=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145242_44145248del | CA2695202960 | GCK | c.*1285_*1291del (n.*1285_*1291del) c.*407_*413del (n.*407_*413del) n.513_519del c.321_327del (p.Arg107SerfsTer?) c.1290_1296del (p.Arg430SerfsTer?) c.1287_1293del (p.Arg429SerfsTer?) c.1350_1356del (p.Arg450SerfsTer?) n.299_305del c.339_345del (p.Arg113SerfsTer?) c.1284_1290del (p.Arg428SerfsTer?) c.1236_1242del (p.Arg412SerfsTer?) n.667_673del c.276_282del (p.Arg92SerfsTer?) c.147_153del (p.Arg49SerfsTer?) | |
7 | g.44145242G>A | CA367397156 | GCK | c.*1290C>T (n.*1290C>T) c.*412C>T (n.*412C>T) n.518C>T c.326C>T (p.Thr109Met) c.1295C>T (p.Thr432Met) c.1292C>T (p.Thr431Met) c.1355C>T (p.Thr452Met) n.304C>T c.344C>T (p.Thr115Met) c.1289C>T (p.Thr430Met) c.1241C>T (p.Thr414Met) n.672C>T c.281C>T (p.Thr94Met) c.152C>T (p.Thr51Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44145242G>C | CA367397157 | GCK | c.*1290C>G (n.*1290C>G) c.*412C>G (n.*412C>G) n.518C>G c.326C>G (p.Thr109Arg) c.1295C>G (p.Thr432Arg) c.1292C>G (p.Thr431Arg) c.1355C>G (p.Thr452Arg) n.304C>G c.344C>G (p.Thr115Arg) c.1289C>G (p.Thr430Arg) c.1241C>G (p.Thr414Arg) n.672C>G c.281C>G (p.Thr94Arg) c.152C>G (p.Thr51Arg) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145242G= | CA1703612692 | GCK | c.*1290C= (n.*1290C=) c.*412C= (n.*412C=) n.518C= c.326C= (p.Thr109=) c.1295C= (p.Thr432=) c.1292C= (p.Thr431=) c.1355C= (p.Thr452=) n.304C= c.344C= (p.Thr115=) c.1289C= (p.Thr430=) c.1241C= (p.Thr414=) n.672C= c.281C= (p.Thr94=) c.152C= (p.Thr51=) | |
7 | g.44145242G>T | CA367397159 | GCK | c.*1290C>A (n.*1290C>A) c.*412C>A (n.*412C>A) n.518C>A c.326C>A (p.Thr109Lys) c.1295C>A (p.Thr432Lys) c.1292C>A (p.Thr431Lys) c.1355C>A (p.Thr452Lys) n.304C>A c.344C>A (p.Thr115Lys) c.1289C>A (p.Thr430Lys) c.1241C>A (p.Thr414Lys) n.672C>A c.281C>A (p.Thr94Lys) c.152C>A (p.Thr51Lys) | |
7 | g.44145243T>A | CA367397161 | GCK | c.*1289A>T (n.*1289A>T) c.*411A>T (n.*411A>T) n.517A>T c.325A>T (p.Thr109Ser) c.1294A>T (p.Thr432Ser) c.1291A>T (p.Thr431Ser) c.1354A>T (p.Thr452Ser) n.303A>T c.343A>T (p.Thr115Ser) c.1288A>T (p.Thr430Ser) c.1240A>T (p.Thr414Ser) n.671A>T c.280A>T (p.Thr94Ser) c.151A>T (p.Thr51Ser) | |
7 | g.44145243T>C | CA4239383 | GCK | c.*1289A>G (n.*1289A>G) c.*411A>G (n.*411A>G) n.517A>G c.325A>G (p.Thr109Ala) c.1294A>G (p.Thr432Ala) c.1291A>G (p.Thr431Ala) c.1354A>G (p.Thr452Ala) n.303A>G c.343A>G (p.Thr115Ala) c.1288A>G (p.Thr430Ala) c.1240A>G (p.Thr414Ala) n.671A>G c.280A>G (p.Thr94Ala) c.151A>G (p.Thr51Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44145243T>G | CA367397164 | GCK | c.*1289A>C (n.*1289A>C) c.*411A>C (n.*411A>C) n.517A>C c.325A>C (p.Thr109Pro) c.1294A>C (p.Thr432Pro) c.1291A>C (p.Thr431Pro) c.1354A>C (p.Thr452Pro) n.303A>C c.343A>C (p.Thr115Pro) c.1288A>C (p.Thr430Pro) c.1240A>C (p.Thr414Pro) n.671A>C c.280A>C (p.Thr94Pro) c.151A>C (p.Thr51Pro) | |
7 | g.44145243T= | CA1703612693 | GCK | c.*1289A= (n.*1289A=) c.*411A= (n.*411A=) n.517A= c.325A= (p.Thr109=) c.1294A= (p.Thr432=) c.1291A= (p.Thr431=) c.1354A= (p.Thr452=) n.303A= c.343A= (p.Thr115=) c.1288A= (p.Thr430=) c.1240A= (p.Thr414=) n.671A= c.280A= (p.Thr94=) c.151A= (p.Thr51=) | |
7 | g.44145244C>A | CA454606690 | GCK | c.*1288G>T (n.*1288G>T) c.*410G>T (n.*410G>T) n.516G>T c.324G>T (p.Leu108=) c.1293G>T (p.Leu431=) c.1290G>T (p.Leu430=) c.1353G>T (p.Leu451=) n.302G>T c.342G>T (p.Leu114=) c.1287G>T (p.Leu429=) c.1239G>T (p.Leu413=) n.670G>T c.279G>T (p.Leu93=) c.150G>T (p.Leu50=) | |
7 | g.44145244C>G | CA454606691 | GCK | c.*1288G>C (n.*1288G>C) c.*410G>C (n.*410G>C) n.516G>C c.324G>C (p.Leu108=) c.1293G>C (p.Leu431=) c.1290G>C (p.Leu430=) c.1353G>C (p.Leu451=) n.302G>C c.342G>C (p.Leu114=) c.1287G>C (p.Leu429=) c.1239G>C (p.Leu413=) n.670G>C c.279G>C (p.Leu93=) c.150G>C (p.Leu50=) | |
7 | g.44145244C>T | CA454606692 | GCK | c.*1288G>A (n.*1288G>A) c.*410G>A (n.*410G>A) n.516G>A c.324G>A (p.Leu108=) c.1293G>A (p.Leu431=) c.1290G>A (p.Leu430=) c.1353G>A (p.Leu451=) n.302G>A c.342G>A (p.Leu114=) c.1287G>A (p.Leu429=) c.1239G>A (p.Leu413=) n.670G>A c.279G>A (p.Leu93=) c.150G>A (p.Leu50=) | gnomAD v4 |
7 | g.44145245_44145247del | CA2695202961 | GCK | c.*1286_*1288del (n.*1286_*1288del) c.*408_*410del (n.*408_*410del) n.514_516del c.322_324del (p.Leu108del) c.1291_1293del (p.Leu431del) c.1288_1290del (p.Leu430del) c.1351_1353del (p.Leu451del) n.300_302del c.340_342del (p.Leu114del) c.1285_1287del (p.Leu429del) c.1237_1239del (p.Leu413del) n.668_670del c.277_279del (p.Leu93del) c.148_150del (p.Leu50del) | |
7 | g.44145245A= | CA1703612694 | GCK | c.*1287T= (n.*1287T=) c.*409T= (n.*409T=) n.515T= c.323T= (p.Leu108=) c.1292T= (p.Leu431=) c.1289T= (p.Leu430=) c.1352T= (p.Leu451=) n.301T= c.341T= (p.Leu114=) c.1286T= (p.Leu429=) c.1238T= (p.Leu413=) n.669T= c.278T= (p.Leu93=) c.149T= (p.Leu50=) | |
7 | g.44145245A>C | CA367397166 | GCK | c.*1287T>G (n.*1287T>G) c.*409T>G (n.*409T>G) n.515T>G c.323T>G (p.Leu108Arg) c.1292T>G (p.Leu431Arg) c.1289T>G (p.Leu430Arg) c.1352T>G (p.Leu451Arg) n.301T>G c.341T>G (p.Leu114Arg) c.1286T>G (p.Leu429Arg) c.1238T>G (p.Leu413Arg) n.669T>G c.278T>G (p.Leu93Arg) c.149T>G (p.Leu50Arg) | |
7 | g.44145245A>G | CA213749 | GCK | c.*1287T>C (n.*1287T>C) c.*409T>C (n.*409T>C) n.515T>C c.323T>C (p.Leu108Pro) c.1292T>C (p.Leu431Pro) c.1289T>C (p.Leu430Pro) c.1352T>C (p.Leu451Pro) n.301T>C c.341T>C (p.Leu114Pro) c.1286T>C (p.Leu429Pro) c.1238T>C (p.Leu413Pro) n.669T>C c.278T>C (p.Leu93Pro) c.149T>C (p.Leu50Pro) | ClinVar dbSNP |
7 | g.44145245A>T | CA367397169 | GCK | c.*1287T>A (n.*1287T>A) c.*409T>A (n.*409T>A) n.515T>A c.323T>A (p.Leu108Gln) c.1292T>A (p.Leu431Gln) c.1289T>A (p.Leu430Gln) c.1352T>A (p.Leu451Gln) n.301T>A c.341T>A (p.Leu114Gln) c.1286T>A (p.Leu429Gln) c.1238T>A (p.Leu413Gln) n.669T>A c.278T>A (p.Leu93Gln) c.149T>A (p.Leu50Gln) | |
7 | g.44145246G>A | CA213747 | GCK | c.*1286C>T (n.*1286C>T) c.*408C>T (n.*408C>T) n.514C>T c.322C>T (p.Leu108=) c.1291C>T (p.Leu431=) c.1288C>T (p.Leu430=) c.1351C>T (p.Leu451=) n.300C>T c.340C>T (p.Leu114=) c.1285C>T (p.Leu429=) c.1237C>T (p.Leu413=) n.668C>T c.277C>T (p.Leu93=) c.148C>T (p.Leu50=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44145246G>C | CA367397172 | GCK | c.*1286C>G (n.*1286C>G) c.*408C>G (n.*408C>G) n.514C>G c.322C>G (p.Leu108Val) c.1291C>G (p.Leu431Val) c.1288C>G (p.Leu430Val) c.1351C>G (p.Leu451Val) n.300C>G c.340C>G (p.Leu114Val) c.1285C>G (p.Leu429Val) c.1237C>G (p.Leu413Val) n.668C>G c.277C>G (p.Leu93Val) c.148C>G (p.Leu50Val) | ClinVar |
7 | g.44145246G= | CA1703612695 | GCK | c.*1286C= (n.*1286C=) c.*408C= (n.*408C=) n.514C= c.322C= (p.Leu108=) c.1291C= (p.Leu431=) c.1288C= (p.Leu430=) c.1351C= (p.Leu451=) n.300C= c.340C= (p.Leu114=) c.1285C= (p.Leu429=) c.1237C= (p.Leu413=) n.668C= c.277C= (p.Leu93=) c.148C= (p.Leu50=) | |
7 | g.44145246G>T | CA367397173 | GCK | c.*1286C>A (n.*1286C>A) c.*408C>A (n.*408C>A) n.514C>A c.322C>A (p.Leu108Met) c.1291C>A (p.Leu431Met) c.1288C>A (p.Leu430Met) c.1351C>A (p.Leu451Met) n.300C>A c.340C>A (p.Leu114Met) c.1285C>A (p.Leu429Met) c.1237C>A (p.Leu413Met) n.668C>A c.277C>A (p.Leu93Met) c.148C>A (p.Leu50Met) | |
7 | g.44145247C>A | CA367397175 | GCK | c.*1285G>T (n.*1285G>T) c.*407G>T (n.*407G>T) n.513G>T c.321G>T (p.Arg107Ser) c.1290G>T (p.Arg430Ser) c.1287G>T (p.Arg429Ser) c.1350G>T (p.Arg450Ser) n.299G>T c.339G>T (p.Arg113Ser) c.1284G>T (p.Arg428Ser) c.1236G>T (p.Arg412Ser) n.667G>T c.276G>T (p.Arg92Ser) c.147G>T (p.Arg49Ser) | |
7 | g.44145247C= | CA1703612696 | GCK | c.*1285G= (n.*1285G=) c.*407G= (n.*407G=) n.513G= c.321G= (p.Arg107=) c.1290G= (p.Arg430=) c.1287G= (p.Arg429=) c.1350G= (p.Arg450=) n.299G= c.339G= (p.Arg113=) c.1284G= (p.Arg428=) c.1236G= (p.Arg412=) n.667G= c.276G= (p.Arg92=) c.147G= (p.Arg49=) | |
7 | g.44145247C>G | CA367397177 | GCK | c.*1285G>C (n.*1285G>C) c.*407G>C (n.*407G>C) n.513G>C c.321G>C (p.Arg107Ser) c.1290G>C (p.Arg430Ser) c.1287G>C (p.Arg429Ser) c.1350G>C (p.Arg450Ser) n.299G>C c.339G>C (p.Arg113Ser) c.1284G>C (p.Arg428Ser) c.1236G>C (p.Arg412Ser) n.667G>C c.276G>C (p.Arg92Ser) c.147G>C (p.Arg49Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44145247C>T | CA454606693 | GCK | c.*1285G>A (n.*1285G>A) c.*407G>A (n.*407G>A) n.513G>A c.321G>A (p.Arg107=) c.1290G>A (p.Arg430=) c.1287G>A (p.Arg429=) c.1350G>A (p.Arg450=) n.299G>A c.339G>A (p.Arg113=) c.1284G>A (p.Arg428=) c.1236G>A (p.Arg412=) n.667G>A c.276G>A (p.Arg92=) c.147G>A (p.Arg49=) | dbSNP gnomAD v2 |
7 | g.44145248C>A | CA367397179 | GCK | c.*1284G>T (n.*1284G>T) c.*406G>T (n.*406G>T) n.512G>T c.320G>T (p.Arg107Met) c.1289G>T (p.Arg430Met) c.1286G>T (p.Arg429Met) c.1349G>T (p.Arg450Met) n.298G>T c.338G>T (p.Arg113Met) c.1283G>T (p.Arg428Met) c.1235G>T (p.Arg412Met) n.666G>T c.275G>T (p.Arg92Met) c.146G>T (p.Arg49Met) | |
7 | g.44145248C= | CA1703612697 | GCK | c.*1284G= (n.*1284G=) c.*406G= (n.*406G=) n.512G= c.320G= (p.Arg107=) c.1289G= (p.Arg430=) c.1286G= (p.Arg429=) c.1349G= (p.Arg450=) n.298G= c.338G= (p.Arg113=) c.1283G= (p.Arg428=) c.1235G= (p.Arg412=) n.666G= c.275G= (p.Arg92=) c.146G= (p.Arg49=) | |
7 | g.44145248C>G | CA367397181 | GCK | c.*1284G>C (n.*1284G>C) c.*406G>C (n.*406G>C) n.512G>C c.320G>C (p.Arg107Thr) c.1289G>C (p.Arg430Thr) c.1286G>C (p.Arg429Thr) c.1349G>C (p.Arg450Thr) n.298G>C c.338G>C (p.Arg113Thr) c.1283G>C (p.Arg428Thr) c.1235G>C (p.Arg412Thr) n.666G>C c.275G>C (p.Arg92Thr) c.146G>C (p.Arg49Thr) | |
7 | g.44145248C>T | CA4239384 | GCK | c.*1284G>A (n.*1284G>A) c.*406G>A (n.*406G>A) n.512G>A c.320G>A (p.Arg107Lys) c.1289G>A (p.Arg430Lys) c.1286G>A (p.Arg429Lys) c.1349G>A (p.Arg450Lys) n.298G>A c.338G>A (p.Arg113Lys) c.1283G>A (p.Arg428Lys) c.1235G>A (p.Arg412Lys) n.666G>A c.275G>A (p.Arg92Lys) c.146G>A (p.Arg49Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44145251_44145259dup | CA2695202964 | GCK | c.*1276_*1284dup (n.*1276_*1284dup) c.*398_*406dup (n.*398_*406dup) n.504_512dup c.312_320dup (p.Arg106_Arg107insSerValArg) c.1281_1289dup (p.Arg429_Arg430insSerValArg) c.1278_1286dup (p.Arg428_Arg429insSerValArg) c.1341_1349dup (p.Arg449_Arg450insSerValArg) n.290_298dup c.330_338dup (p.Arg112_Arg113insSerValArg) c.1275_1283dup (p.Arg427_Arg428insSerValArg) c.1227_1235dup (p.Arg411_Arg412insSerValArg) n.658_666dup c.267_275dup (p.Arg91_Arg92insSerValArg) c.138_146dup (p.Arg48_Arg49insSerValArg) | |
7 | g.44145251_44145259del | CA2695202963 | GCK | c.*1276_*1284del (n.*1276_*1284del) c.*398_*406del (n.*398_*406del) n.504_512del c.312_320del (p.Ser104_Arg106del) c.1281_1289del (p.Ser427_Arg429del) c.1278_1286del (p.Ser426_Arg428del) c.1341_1349del (p.Ser447_Arg449del) n.290_298del c.330_338del (p.Ser110_Arg112del) c.1275_1283del (p.Ser425_Arg427del) c.1227_1235del (p.Ser409_Arg411del) n.658_666del c.267_275del (p.Ser89_Arg91del) c.138_146del (p.Ser46_Arg48del) | |
7 | g.44145249T>A | CA367397183 | GCK | c.*1283A>T (n.*1283A>T) c.*405A>T (n.*405A>T) n.511A>T c.319A>T (p.Arg107Trp) c.1288A>T (p.Arg430Trp) c.1285A>T (p.Arg429Trp) c.1348A>T (p.Arg450Trp) n.297A>T c.337A>T (p.Arg113Trp) c.1282A>T (p.Arg428Trp) c.1234A>T (p.Arg412Trp) n.665A>T c.274A>T (p.Arg92Trp) c.145A>T (p.Arg49Trp) | |
7 | g.44145249T>C | CA367397186 | GCK | c.*1283A>G (n.*1283A>G) c.*405A>G (n.*405A>G) n.511A>G c.319A>G (p.Arg107Gly) c.1288A>G (p.Arg430Gly) c.1285A>G (p.Arg429Gly) c.1348A>G (p.Arg450Gly) n.297A>G c.337A>G (p.Arg113Gly) c.1282A>G (p.Arg428Gly) c.1234A>G (p.Arg412Gly) n.665A>G c.274A>G (p.Arg92Gly) c.145A>G (p.Arg49Gly) | gnomAD v4 |
7 | g.44145249T>G | CA213745 | GCK | c.*1283A>C (n.*1283A>C) c.*405A>C (n.*405A>C) n.511A>C c.319A>C (p.Arg107=) c.1288A>C (p.Arg430=) c.1285A>C (p.Arg429=) c.1348A>C (p.Arg450=) n.297A>C c.337A>C (p.Arg113=) c.1282A>C (p.Arg428=) c.1234A>C (p.Arg412=) n.665A>C c.274A>C (p.Arg92=) c.145A>C (p.Arg49=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.44145249T= | CA1703612699 | GCK | c.*1283A= (n.*1283A=) c.*405A= (n.*405A=) n.511A= c.319A= (p.Arg107=) c.1288A= (p.Arg430=) c.1285A= (p.Arg429=) c.1348A= (p.Arg450=) n.297A= c.337A= (p.Arg113=) c.1282A= (p.Arg428=) c.1234A= (p.Arg412=) n.665A= c.274A= (p.Arg92=) c.145A= (p.Arg49=) | |
7 | g.44145249_44145251delinsTGC | CA1703612698 | GCK | c.*1281_*1283delinsGCA (n.*1281_*1283delinsGCA) c.*403_*405delinsGCA (n.*403_*405delinsGCA) n.509_511delinsGCA c.317_319delinsGCA (p.Arg106=) c.1286_1288delinsGCA (p.Arg429=) c.1283_1285delinsGCA (p.Arg428=) c.1346_1348delinsGCA (p.Arg449=) n.295_297delinsGCA c.335_337delinsGCA (p.Arg112=) c.1280_1282delinsGCA (p.Arg427=) c.1232_1234delinsGCA (p.Arg411=) n.663_665delinsGCA c.272_274delinsGCA (p.Arg91=) c.143_145delinsGCA (p.Arg48=) | |
7 | g.44145250G>A | CA454606695 | GCK | c.*1282C>T (n.*1282C>T) c.*404C>T (n.*404C>T) n.510C>T c.318C>T (p.Arg106=) c.1287C>T (p.Arg429=) c.1284C>T (p.Arg428=) c.1347C>T (p.Arg449=) n.296C>T c.336C>T (p.Arg112=) c.1281C>T (p.Arg427=) c.1233C>T (p.Arg411=) n.664C>T c.273C>T (p.Arg91=) c.144C>T (p.Arg48=) | |
7 | g.44145250G>C | CA454606694 | GCK | c.*1282C>G (n.*1282C>G) c.*404C>G (n.*404C>G) n.510C>G c.318C>G (p.Arg106=) c.1287C>G (p.Arg429=) c.1284C>G (p.Arg428=) c.1347C>G (p.Arg449=) n.296C>G c.336C>G (p.Arg112=) c.1281C>G (p.Arg427=) c.1233C>G (p.Arg411=) n.664C>G c.273C>G (p.Arg91=) c.144C>G (p.Arg48=) | |
7 | g.44145250G= | CA1703612700 | GCK | c.*1282C= (n.*1282C=) c.*404C= (n.*404C=) n.510C= c.318C= (p.Arg106=) c.1287C= (p.Arg429=) c.1284C= (p.Arg428=) c.1347C= (p.Arg449=) n.296C= c.336C= (p.Arg112=) c.1281C= (p.Arg427=) c.1233C= (p.Arg411=) n.664C= c.273C= (p.Arg91=) c.144C= (p.Arg48=) | |
7 | g.44145250G>T | CA4239385 | GCK | c.*1282C>A (n.*1282C>A) c.*404C>A (n.*404C>A) n.510C>A c.318C>A (p.Arg106=) c.1287C>A (p.Arg429=) c.1284C>A (p.Arg428=) c.1347C>A (p.Arg449=) n.296C>A c.336C>A (p.Arg112=) c.1281C>A (p.Arg427=) c.1233C>A (p.Arg411=) n.664C>A c.273C>A (p.Arg91=) c.144C>A (p.Arg48=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.44145252_44145253del | CA213744 | GCK | c.*1281_*1282del (n.*1281_*1282del) c.*403_*404del (n.*403_*404del) n.509_510del c.317_318del (p.Arg106GlnfsTer30) c.1286_1287del (p.Arg429GlnfsTer30) c.1283_1284del (p.Arg428GlnfsTer30) c.1346_1347del (p.Arg449GlnfsTer30) n.295_296del c.1283_1284del (p.Arg428GlnfsTer?) c.335_336del (p.Arg112GlnfsTer30) c.1280_1281del (p.Arg427GlnfsTer30) c.1232_1233del (p.Arg411GlnfsTer30) n.663_664del c.272_273del (p.Arg91GlnfsTer30) c.143_144del (p.Arg48GlnfsTer?) c.143_144del (p.Arg48GlnfsTer30) | ClinVar dbSNP |
7 | g.44145251C>A | CA367397188 | GCK | c.*1281G>T (n.*1281G>T) c.*403G>T (n.*403G>T) n.509G>T c.317G>T (p.Arg106Leu) c.1286G>T (p.Arg429Leu) c.1283G>T (p.Arg428Leu) c.1346G>T (p.Arg449Leu) n.295G>T c.335G>T (p.Arg112Leu) c.1280G>T (p.Arg427Leu) c.1232G>T (p.Arg411Leu) n.663G>T c.272G>T (p.Arg91Leu) c.143G>T (p.Arg48Leu) | |
7 | g.44145251C= | CA1703612701 | GCK | c.*1281G= (n.*1281G=) c.*403G= (n.*403G=) n.509G= c.317G= (p.Arg106=) c.1286G= (p.Arg429=) c.1283G= (p.Arg428=) c.1346G= (p.Arg449=) n.295G= c.335G= (p.Arg112=) c.1280G= (p.Arg427=) c.1232G= (p.Arg411=) n.663G= c.272G= (p.Arg91=) c.143G= (p.Arg48=) | |
7 | g.44145251C>G | CA367397191 | GCK | c.*1281G>C (n.*1281G>C) c.*403G>C (n.*403G>C) n.509G>C c.317G>C (p.Arg106Pro) c.1286G>C (p.Arg429Pro) c.1283G>C (p.Arg428Pro) c.1346G>C (p.Arg449Pro) n.295G>C c.335G>C (p.Arg112Pro) c.1280G>C (p.Arg427Pro) c.1232G>C (p.Arg411Pro) n.663G>C c.272G>C (p.Arg91Pro) c.143G>C (p.Arg48Pro) | |
7 | g.44145251C>T | CA367397190 | GCK | c.*1281G>A (n.*1281G>A) c.*403G>A (n.*403G>A) n.509G>A c.317G>A (p.Arg106His) c.1286G>A (p.Arg429His) c.1283G>A (p.Arg428His) c.1346G>A (p.Arg449His) n.295G>A c.335G>A (p.Arg112His) c.1280G>A (p.Arg427His) c.1232G>A (p.Arg411His) n.663G>A c.272G>A (p.Arg91His) c.143G>A (p.Arg48His) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145254_44145257dup | CA1139660055 | GCK | c.*1278_*1281dup (n.*1278_*1281dup) c.*400_*403dup (n.*400_*403dup) n.506_509dup c.314_317dup (p.Arg107AlafsTer31) c.1283_1286dup (p.Arg430AlafsTer31) c.1280_1283dup (p.Arg429AlafsTer31) c.1343_1346dup (p.Arg450AlafsTer31) n.292_295dup c.1280_1283dup (p.Arg429AlafsTer?) c.332_335dup (p.Arg113AlafsTer31) c.1277_1280dup (p.Arg428AlafsTer31) c.1229_1232dup (p.Arg412AlafsTer31) n.660_663dup c.269_272dup (p.Arg92AlafsTer31) c.140_143dup (p.Arg49AlafsTer?) c.140_143dup (p.Arg49AlafsTer31) | ClinVar dbSNP |
7 | g.44145252G>A | CA4239386 | GCK | c.*1280C>T (n.*1280C>T) c.*402C>T (n.*402C>T) n.508C>T c.316C>T (p.Arg106Cys) c.1285C>T (p.Arg429Cys) c.1282C>T (p.Arg428Cys) c.1345C>T (p.Arg449Cys) n.294C>T c.334C>T (p.Arg112Cys) c.1279C>T (p.Arg427Cys) c.1231C>T (p.Arg411Cys) n.662C>T c.271C>T (p.Arg91Cys) c.142C>T (p.Arg48Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
7 | g.44145252G>C | CA367397196 | GCK | c.*1280C>G (n.*1280C>G) c.*402C>G (n.*402C>G) n.508C>G c.316C>G (p.Arg106Gly) c.1285C>G (p.Arg429Gly) c.1282C>G (p.Arg428Gly) c.1345C>G (p.Arg449Gly) n.294C>G c.334C>G (p.Arg112Gly) c.1279C>G (p.Arg427Gly) c.1231C>G (p.Arg411Gly) n.662C>G c.271C>G (p.Arg91Gly) c.142C>G (p.Arg48Gly) | |
7 | g.44145252G= | CA1703612702 | GCK | c.*1280C= (n.*1280C=) c.*402C= (n.*402C=) n.508C= c.316C= (p.Arg106=) c.1285C= (p.Arg429=) c.1282C= (p.Arg428=) c.1345C= (p.Arg449=) n.294C= c.334C= (p.Arg112=) c.1279C= (p.Arg427=) c.1231C= (p.Arg411=) n.662C= c.271C= (p.Arg91=) c.142C= (p.Arg48=) | |
7 | g.44145252G>T | CA367397195 | GCK | c.*1280C>A (n.*1280C>A) c.*402C>A (n.*402C>A) n.508C>A c.316C>A (p.Arg106Ser) c.1285C>A (p.Arg429Ser) c.1282C>A (p.Arg428Ser) c.1345C>A (p.Arg449Ser) n.294C>A c.334C>A (p.Arg112Ser) c.1279C>A (p.Arg427Ser) c.1231C>A (p.Arg411Ser) n.662C>A c.271C>A (p.Arg91Ser) c.142C>A (p.Arg48Ser) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145253C>A | CA454606696 | GCK | c.*1279G>T (n.*1279G>T) c.*401G>T (n.*401G>T) n.507G>T c.315G>T (p.Val105=) c.1284G>T (p.Val428=) c.1281G>T (p.Val427=) c.1344G>T (p.Val448=) n.293G>T c.333G>T (p.Val111=) c.1278G>T (p.Val426=) c.1230G>T (p.Val410=) n.661G>T c.270G>T (p.Val90=) c.141G>T (p.Val47=) | |
7 | g.44145253C= | CA1703612703 | GCK | c.*1279G= (n.*1279G=) c.*401G= (n.*401G=) n.507G= c.315G= (p.Val105=) c.1284G= (p.Val428=) c.1281G= (p.Val427=) c.1344G= (p.Val448=) n.293G= c.333G= (p.Val111=) c.1278G= (p.Val426=) c.1230G= (p.Val410=) n.661G= c.270G= (p.Val90=) c.141G= (p.Val47=) | |
7 | g.44145253C>G | CA454606697 | GCK | c.*1279G>C (n.*1279G>C) c.*401G>C (n.*401G>C) n.507G>C c.315G>C (p.Val105=) c.1284G>C (p.Val428=) c.1281G>C (p.Val427=) c.1344G>C (p.Val448=) n.293G>C c.333G>C (p.Val111=) c.1278G>C (p.Val426=) c.1230G>C (p.Val410=) n.661G>C c.270G>C (p.Val90=) c.141G>C (p.Val47=) | |
7 | g.44145253C>T | CA4239387 | GCK | c.*1279G>A (n.*1279G>A) c.*401G>A (n.*401G>A) n.507G>A c.315G>A (p.Val105=) c.1284G>A (p.Val428=) c.1281G>A (p.Val427=) c.1344G>A (p.Val448=) n.293G>A c.333G>A (p.Val111=) c.1278G>A (p.Val426=) c.1230G>A (p.Val410=) n.661G>A c.270G>A (p.Val90=) c.141G>A (p.Val47=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.44145254A= | CA1703612704 | GCK | c.*1278T= (n.*1278T=) c.*400T= (n.*400T=) n.506T= c.314T= (p.Val105=) c.1283T= (p.Val428=) c.1280T= (p.Val427=) c.1343T= (p.Val448=) n.292T= c.332T= (p.Val111=) c.1277T= (p.Val426=) c.1229T= (p.Val410=) n.660T= c.269T= (p.Val90=) c.140T= (p.Val47=) | |
7 | g.44145254A>C | CA367397199 | GCK | c.*1278T>G (n.*1278T>G) c.*400T>G (n.*400T>G) n.506T>G c.314T>G (p.Val105Gly) c.1283T>G (p.Val428Gly) c.1280T>G (p.Val427Gly) c.1343T>G (p.Val448Gly) n.292T>G c.332T>G (p.Val111Gly) c.1277T>G (p.Val426Gly) c.1229T>G (p.Val410Gly) n.660T>G c.269T>G (p.Val90Gly) c.140T>G (p.Val47Gly) | ClinVar dbSNP |
7 | g.44145254A>G | CA367397201 | GCK | c.*1278T>C (n.*1278T>C) c.*400T>C (n.*400T>C) n.506T>C c.314T>C (p.Val105Ala) c.1283T>C (p.Val428Ala) c.1280T>C (p.Val427Ala) c.1343T>C (p.Val448Ala) n.292T>C c.332T>C (p.Val111Ala) c.1277T>C (p.Val426Ala) c.1229T>C (p.Val410Ala) n.660T>C c.269T>C (p.Val90Ala) c.140T>C (p.Val47Ala) | |
7 | g.44145254A>T | CA367397202 | GCK | c.*1278T>A (n.*1278T>A) c.*400T>A (n.*400T>A) n.506T>A c.314T>A (p.Val105Glu) c.1283T>A (p.Val428Glu) c.1280T>A (p.Val427Glu) c.1343T>A (p.Val448Glu) n.292T>A c.332T>A (p.Val111Glu) c.1277T>A (p.Val426Glu) c.1229T>A (p.Val410Glu) n.660T>A c.269T>A (p.Val90Glu) c.140T>A (p.Val47Glu) | |
7 | g.44145255C>A | CA367397205 | GCK | c.*1277G>T (n.*1277G>T) c.*399G>T (n.*399G>T) n.505G>T c.313G>T (p.Val105Leu) c.1282G>T (p.Val428Leu) c.1279G>T (p.Val427Leu) c.1342G>T (p.Val448Leu) n.291G>T c.331G>T (p.Val111Leu) c.1276G>T (p.Val426Leu) c.1228G>T (p.Val410Leu) n.659G>T c.268G>T (p.Val90Leu) c.139G>T (p.Val47Leu) | |
7 | g.44145255C>G | CA367397206 | GCK | c.*1277G>C (n.*1277G>C) c.*399G>C (n.*399G>C) n.505G>C c.313G>C (p.Val105Leu) c.1282G>C (p.Val428Leu) c.1279G>C (p.Val427Leu) c.1342G>C (p.Val448Leu) n.291G>C c.331G>C (p.Val111Leu) c.1276G>C (p.Val426Leu) c.1228G>C (p.Val410Leu) n.659G>C c.268G>C (p.Val90Leu) c.139G>C (p.Val47Leu) | |
7 | g.44145255C>T | CA367397208 | GCK | c.*1277G>A (n.*1277G>A) c.*399G>A (n.*399G>A) n.505G>A c.313G>A (p.Val105Met) c.1282G>A (p.Val428Met) c.1279G>A (p.Val427Met) c.1342G>A (p.Val448Met) n.291G>A c.331G>A (p.Val111Met) c.1276G>A (p.Val426Met) c.1228G>A (p.Val410Met) n.659G>A c.268G>A (p.Val90Met) c.139G>A (p.Val47Met) | gnomAD v4 |
7 | g.44145256_44145257del | CA1139771800 | GCK | c.*1276_*1277del (n.*1276_*1277del) c.*398_*399del (n.*398_*399del) n.504_505del c.312_313del (p.Val105AlafsTer?) c.1281_1282del (p.Val428AlafsTer?) c.1278_1279del (p.Val427AlafsTer?) c.1341_1342del (p.Val448AlafsTer?) n.290_291del c.330_331del (p.Val111AlafsTer?) c.1275_1276del (p.Val426AlafsTer?) c.1227_1228del (p.Val410AlafsTer?) n.658_659del c.267_268del (p.Val90AlafsTer?) c.138_139del (p.Val47AlafsTer?) | ClinVar dbSNP |
7 | g.44145256G>A | CA454606700 | GCK | c.*1276C>T (n.*1276C>T) c.*398C>T (n.*398C>T) n.504C>T c.312C>T (p.Ser104=) c.1281C>T (p.Ser427=) c.1278C>T (p.Ser426=) c.1341C>T (p.Ser447=) n.290C>T c.330C>T (p.Ser110=) c.1275C>T (p.Ser425=) c.1227C>T (p.Ser409=) n.658C>T c.267C>T (p.Ser89=) c.138C>T (p.Ser46=) | gnomAD v4 |
7 | g.44145256G>C | CA367397210 | GCK | c.*1276C>G (n.*1276C>G) c.*398C>G (n.*398C>G) n.504C>G c.312C>G (p.Ser104Arg) c.1281C>G (p.Ser427Arg) c.1278C>G (p.Ser426Arg) c.1341C>G (p.Ser447Arg) n.290C>G c.330C>G (p.Ser110Arg) c.1275C>G (p.Ser425Arg) c.1227C>G (p.Ser409Arg) n.658C>G c.267C>G (p.Ser89Arg) c.138C>G (p.Ser46Arg) | gnomAD v4 |
7 | g.44145256G>T | CA367397212 | GCK | c.*1276C>A (n.*1276C>A) c.*398C>A (n.*398C>A) n.504C>A c.312C>A (p.Ser104Arg) c.1281C>A (p.Ser427Arg) c.1278C>A (p.Ser426Arg) c.1341C>A (p.Ser447Arg) n.290C>A c.330C>A (p.Ser110Arg) c.1275C>A (p.Ser425Arg) c.1227C>A (p.Ser409Arg) n.658C>A c.267C>A (p.Ser89Arg) c.138C>A (p.Ser46Arg) | |
7 | g.44145257C>A | CA367397214 | GCK | c.*1275G>T (n.*1275G>T) c.*397G>T (n.*397G>T) n.503G>T c.311G>T (p.Ser104Ile) c.1280G>T (p.Ser427Ile) c.1277G>T (p.Ser426Ile) c.1340G>T (p.Ser447Ile) n.289G>T c.329G>T (p.Ser110Ile) c.1274G>T (p.Ser425Ile) c.1226G>T (p.Ser409Ile) n.657G>T c.266G>T (p.Ser89Ile) c.137G>T (p.Ser46Ile) | |
7 | g.44145257C>G | CA367397216 | GCK | c.*1275G>C (n.*1275G>C) c.*397G>C (n.*397G>C) n.503G>C c.311G>C (p.Ser104Thr) c.1280G>C (p.Ser427Thr) c.1277G>C (p.Ser426Thr) c.1340G>C (p.Ser447Thr) n.289G>C c.329G>C (p.Ser110Thr) c.1274G>C (p.Ser425Thr) c.1226G>C (p.Ser409Thr) n.657G>C c.266G>C (p.Ser89Thr) c.137G>C (p.Ser46Thr) | gnomAD v4 |
7 | g.44145257C>T | CA367397217 | GCK | c.*1275G>A (n.*1275G>A) c.*397G>A (n.*397G>A) n.503G>A c.311G>A (p.Ser104Asn) c.1280G>A (p.Ser427Asn) c.1277G>A (p.Ser426Asn) c.1340G>A (p.Ser447Asn) n.289G>A c.329G>A (p.Ser110Asn) c.1274G>A (p.Ser425Asn) c.1226G>A (p.Ser409Asn) n.657G>A c.266G>A (p.Ser89Asn) c.137G>A (p.Ser46Asn) | |
7 | g.44145258T>A | CA367397219 | GCK | c.*1274A>T (n.*1274A>T) c.*396A>T (n.*396A>T) n.502A>T c.310A>T (p.Ser104Cys) c.1279A>T (p.Ser427Cys) c.1276A>T (p.Ser426Cys) c.1339A>T (p.Ser447Cys) n.288A>T c.328A>T (p.Ser110Cys) c.1273A>T (p.Ser425Cys) c.1225A>T (p.Ser409Cys) n.656A>T c.265A>T (p.Ser89Cys) c.136A>T (p.Ser46Cys) | |
7 | g.44145258T>C | CA367397222 | GCK | c.*1274A>G (n.*1274A>G) c.*396A>G (n.*396A>G) n.502A>G c.310A>G (p.Ser104Gly) c.1279A>G (p.Ser427Gly) c.1276A>G (p.Ser426Gly) c.1339A>G (p.Ser447Gly) n.288A>G c.328A>G (p.Ser110Gly) c.1273A>G (p.Ser425Gly) c.1225A>G (p.Ser409Gly) n.656A>G c.265A>G (p.Ser89Gly) c.136A>G (p.Ser46Gly) | gnomAD v4 |
7 | g.44145258T>G | CA367397221 | GCK | c.*1274A>C (n.*1274A>C) c.*396A>C (n.*396A>C) n.502A>C c.310A>C (p.Ser104Arg) c.1279A>C (p.Ser427Arg) c.1276A>C (p.Ser426Arg) c.1339A>C (p.Ser447Arg) n.288A>C c.328A>C (p.Ser110Arg) c.1273A>C (p.Ser425Arg) c.1225A>C (p.Ser409Arg) n.656A>C c.265A>C (p.Ser89Arg) c.136A>C (p.Ser46Arg) | |
7 | g.44145259G>A | CA454606701 | GCK | c.*1273C>T (n.*1273C>T) c.*395C>T (n.*395C>T) n.501C>T c.309C>T (p.Ala103=) c.1278C>T (p.Ala426=) c.1275C>T (p.Ala425=) c.1338C>T (p.Ala446=) n.287C>T c.327C>T (p.Ala109=) c.1272C>T (p.Ala424=) c.1224C>T (p.Ala408=) n.655C>T c.264C>T (p.Ala88=) c.135C>T (p.Ala45=) | |
7 | g.44145259G>C | CA454606702 | GCK | c.*1273C>G (n.*1273C>G) c.*395C>G (n.*395C>G) n.501C>G c.309C>G (p.Ala103=) c.1278C>G (p.Ala426=) c.1275C>G (p.Ala425=) c.1338C>G (p.Ala446=) n.287C>G c.327C>G (p.Ala109=) c.1272C>G (p.Ala424=) c.1224C>G (p.Ala408=) n.655C>G c.264C>G (p.Ala88=) c.135C>G (p.Ala45=) | |
7 | g.44145259G>T | CA454606703 | GCK | c.*1273C>A (n.*1273C>A) c.*395C>A (n.*395C>A) n.501C>A c.309C>A (p.Ala103=) c.1278C>A (p.Ala426=) c.1275C>A (p.Ala425=) c.1338C>A (p.Ala446=) n.287C>A c.327C>A (p.Ala109=) c.1272C>A (p.Ala424=) c.1224C>A (p.Ala408=) n.655C>A c.264C>A (p.Ala88=) c.135C>A (p.Ala45=) | |
7 | g.44145260G>A | CA367397224 | GCK | c.*1272C>T (n.*1272C>T) c.*394C>T (n.*394C>T) n.500C>T c.308C>T (p.Ala103Val) c.1277C>T (p.Ala426Val) c.1274C>T (p.Ala425Val) c.1337C>T (p.Ala446Val) n.286C>T c.326C>T (p.Ala109Val) c.1271C>T (p.Ala424Val) c.1223C>T (p.Ala408Val) n.654C>T c.263C>T (p.Ala88Val) c.134C>T (p.Ala45Val) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.44145260G>C | CA367397226 | GCK | c.*1272C>G (n.*1272C>G) c.*394C>G (n.*394C>G) n.500C>G c.308C>G (p.Ala103Gly) c.1277C>G (p.Ala426Gly) c.1274C>G (p.Ala425Gly) c.1337C>G (p.Ala446Gly) n.286C>G c.326C>G (p.Ala109Gly) c.1271C>G (p.Ala424Gly) c.1223C>G (p.Ala408Gly) n.654C>G c.263C>G (p.Ala88Gly) c.134C>G (p.Ala45Gly) | |
7 | g.44145260G= | CA1703612705 | GCK | c.*1272C= (n.*1272C=) c.*394C= (n.*394C=) n.500C= c.308C= (p.Ala103=) c.1277C= (p.Ala426=) c.1274C= (p.Ala425=) c.1337C= (p.Ala446=) n.286C= c.326C= (p.Ala109=) c.1271C= (p.Ala424=) c.1223C= (p.Ala408=) n.654C= c.263C= (p.Ala88=) c.134C= (p.Ala45=) | |
7 | g.44145260G>T | CA367397228 | GCK | c.*1272C>A (n.*1272C>A) c.*394C>A (n.*394C>A) n.500C>A c.308C>A (p.Ala103Asp) c.1277C>A (p.Ala426Asp) c.1274C>A (p.Ala425Asp) c.1337C>A (p.Ala446Asp) n.286C>A c.326C>A (p.Ala109Asp) c.1271C>A (p.Ala424Asp) c.1223C>A (p.Ala408Asp) n.654C>A c.263C>A (p.Ala88Asp) c.134C>A (p.Ala45Asp) | gnomAD v4 |
7 | g.44145260_44145261insTACGCTTCGCCACTGATACGACCGACGGGGCGGTACTTTTTCTCATCAGCCTCATCAAAATAGAGCATATCCAGTTCTTCCCGATGCTCTTCGCGGCAGCTGGCCCTGACGTCTTCAGGGATGCTCT | CA2740837468 | GCK | c.*1271_*1272insAGAGCATCCCTGAAGACGTCAGGGCCAGCTGCCGCGAAGAGCATCGGGAAGAACTGGATATGCTCTATTTTGATGAGGCTGATGAGAAAAAGTACCGCCCCGTCGGTCGTATCAGTGGCGAAGCGTA (n.*1271_*1272insAGAGCATCCCTGAAGACGTCAGGGCCAGCTGCCGCGAAGAGCATCGGGAAGAACTGGATATGCTCTATTTTGATGAGGCTGATGAGAAAAAGTACCGCCCCGTCGGTCGTATCAGTGGCGAAGCGTA) c.*393_*394insAGAGCATCCCTGAAGACGTCAGGGCCAGCTGCCGCGAAGAGCATCGGGAAGAACTGGATATGCTCTATTTTGATGAGGCTGATGAGAAAAAGTACCGCCCCGTCGGTCGTATCAGTGGCGAAGCGTA (n.*393_*394insAGAGCATCCCTGAAGACGTCAGGGCCAGCTGCCGCGAAGAGCATCGGGAAGAACTGGATATGCTCTATTTTGATGAGGCTGATGAGAAAAAGTACCGCCCCGTCGGTCGTATCAGTGGCGAAGCGTA) n.499_500insAGAGCATCCCTGAAGACGTCAGGGCCAGCTGCCGCGAAGAGCATCGGGAAGAACTGGATATGCTCTATTTTGATGAGGCTGATGAGAAAAAGTACCGCCCCGTCGGTCGTATCAGTGGCGAAGCGTA c.307_308insAGAGCATCCCTGAAGACGTCAGGGCCAGCTGCCGCGAAGAGCATCGGGAAGAACTGGATATGCTCTATTTTGATGAGGCTGATGAGAAAAAGTACCGCCCCGTCGGTCGTATCAGTGGCGAAGCGTA (p.Ala103GlufsTer?) c.1276_1277insAGAGCATCCCTGAAGACGTCAGGGCCAGCTGCCGCGAAGAGCATCGGGAAGAACTGGATATGCTCTATTTTGATGAGGCTGATGAGAAAAAGTACCGCCCCGTCGGTCGTATCAGTGGCGAAGCGTA (p.Ala426GlufsTer?) c.1273_1274insAGAGCATCCCTGAAGACGTCAGGGCCAGCTGCCGCGAAGAGCATCGGGAAGAACTGGATATGCTCTATTTTGATGAGGCTGATGAGAAAAAGTACCGCCCCGTCGGTCGTATCAGTGGCGAAGCGTA (p.Ala425GlufsTer?) c.1336_1337insAGAGCATCCCTGAAGACGTCAGGGCCAGCTGCCGCGAAGAGCATCGGGAAGAACTGGATATGCTCTATTTTGATGAGGCTGATGAGAAAAAGTACCGCCCCGTCGGTCGTATCAGTGGCGAAGCGTA (p.Ala446GlufsTer?) n.285_286insAGAGCATCCCTGAAGACGTCAGGGCCAGCTGCCGCGAAGAGCATCGGGAAGAACTGGATATGCTCTATTTTGATGAGGCTGATGAGAAAAAGTACCGCCCCGTCGGTCGTATCAGTGGCGAAGCGTA c.325_326insAGAGCATCCCTGAAGACGTCAGGGCCAGCTGCCGCGAAGAGCATCGGGAAGAACTGGATATGCTCTATTTTGATGAGGCTGATGAGAAAAAGTACCGCCCCGTCGGTCGTATCAGTGGCGAAGCGTA (p.Ala109GlufsTer?) c.1270_1271insAGAGCATCCCTGAAGACGTCAGGGCCAGCTGCCGCGAAGAGCATCGGGAAGAACTGGATATGCTCTATTTTGATGAGGCTGATGAGAAAAAGTACCGCCCCGTCGGTCGTATCAGTGGCGAAGCGTA (p.Ala424GlufsTer?) c.1222_1223insAGAGCATCCCTGAAGACGTCAGGGCCAGCTGCCGCGAAGAGCATCGGGAAGAACTGGATATGCTCTATTTTGATGAGGCTGATGAGAAAAAGTACCGCCCCGTCGGTCGTATCAGTGGCGAAGCGTA (p.Ala408GlufsTer?) n.653_654insAGAGCATCCCTGAAGACGTCAGGGCCAGCTGCCGCGAAGAGCATCGGGAAGAACTGGATATGCTCTATTTTGATGAGGCTGATGAGAAAAAGTACCGCCCCGTCGGTCGTATCAGTGGCGAAGCGTA c.262_263insAGAGCATCCCTGAAGACGTCAGGGCCAGCTGCCGCGAAGAGCATCGGGAAGAACTGGATATGCTCTATTTTGATGAGGCTGATGAGAAAAAGTACCGCCCCGTCGGTCGTATCAGTGGCGAAGCGTA (p.Ala88GlufsTer?) c.133_134insAGAGCATCCCTGAAGACGTCAGGGCCAGCTGCCGCGAAGAGCATCGGGAAGAACTGGATATGCTCTATTTTGATGAGGCTGATGAGAAAAAGTACCGCCCCGTCGGTCGTATCAGTGGCGAAGCGTA (p.Ala45GlufsTer?) | |
7 | g.44145261C>A | CA367397230 | GCK | c.*1271G>T (n.*1271G>T) c.*393G>T (n.*393G>T) n.499G>T c.307G>T (p.Ala103Ser) c.1276G>T (p.Ala426Ser) c.1273G>T (p.Ala425Ser) c.1336G>T (p.Ala446Ser) n.285G>T c.325G>T (p.Ala109Ser) c.1270G>T (p.Ala424Ser) c.1222G>T (p.Ala408Ser) n.653G>T c.262G>T (p.Ala88Ser) c.133G>T (p.Ala45Ser) | |
7 | g.44145261C>G | CA367397232 | GCK | c.*1271G>C (n.*1271G>C) c.*393G>C (n.*393G>C) n.499G>C c.307G>C (p.Ala103Pro) c.1276G>C (p.Ala426Pro) c.1273G>C (p.Ala425Pro) c.1336G>C (p.Ala446Pro) n.285G>C c.325G>C (p.Ala109Pro) c.1270G>C (p.Ala424Pro) c.1222G>C (p.Ala408Pro) n.653G>C c.262G>C (p.Ala88Pro) c.133G>C (p.Ala45Pro) | |
7 | g.44145261C>T | CA367397233 | GCK | c.*1271G>A (n.*1271G>A) c.*393G>A (n.*393G>A) n.499G>A c.307G>A (p.Ala103Thr) c.1276G>A (p.Ala426Thr) c.1273G>A (p.Ala425Thr) c.1336G>A (p.Ala446Thr) n.285G>A c.325G>A (p.Ala109Thr) c.1270G>A (p.Ala424Thr) c.1222G>A (p.Ala408Thr) n.653G>A c.262G>A (p.Ala88Thr) c.133G>A (p.Ala45Thr) | gnomAD v4 |
7 | g.44145261_44145269delinsATGAAGGTGGCTCGCA | CA1139771342 | GCK | c.*1263_*1271delinsTGCGAGCCACCTTCAT (n.*1263_*1271delinsTGCGAGCCACCTTCAT) c.*385_*393delinsTGCGAGCCACCTTCAT (n.*385_*393delinsTGCGAGCCACCTTCAT) n.491_499delinsTGCGAGCCACCTTCAT c.299_307delinsTGCGAGCCACCTTCAT (p.Arg100LeufsTer?) c.1268_1276delinsTGCGAGCCACCTTCAT (p.Arg423LeufsTer?) c.1265_1273delinsTGCGAGCCACCTTCAT (p.Arg422LeufsTer?) c.1328_1336delinsTGCGAGCCACCTTCAT (p.Arg443LeufsTer?) n.277_285delinsTGCGAGCCACCTTCAT c.317_325delinsTGCGAGCCACCTTCAT (p.Arg106LeufsTer?) c.1262_1270delinsTGCGAGCCACCTTCAT (p.Arg421LeufsTer?) c.1214_1222delinsTGCGAGCCACCTTCAT (p.Arg405LeufsTer?) n.645_653delinsTGCGAGCCACCTTCAT c.254_262delinsTGCGAGCCACCTTCAT (p.Arg85LeufsTer?) c.125_133delinsTGCGAGCCACCTTCAT (p.Arg42LeufsTer?) | ClinVar |
7 | g.44145262A= | CA1703612706 | GCK | c.*1270T= (n.*1270T=) c.*392T= (n.*392T=) n.498T= c.306T= (p.His102=) c.1275T= (p.His425=) c.1272T= (p.His424=) c.1335T= (p.His445=) n.284T= c.324T= (p.His108=) c.1269T= (p.His423=) c.1221T= (p.His407=) n.652T= c.261T= (p.His87=) c.132T= (p.His44=) | |
7 | g.44145262A>C | CA367397235 | GCK | c.*1270T>G (n.*1270T>G) c.*392T>G (n.*392T>G) n.498T>G c.306T>G (p.His102Gln) c.1275T>G (p.His425Gln) c.1272T>G (p.His424Gln) c.1335T>G (p.His445Gln) n.284T>G c.324T>G (p.His108Gln) c.1269T>G (p.His423Gln) c.1221T>G (p.His407Gln) n.652T>G c.261T>G (p.His87Gln) c.132T>G (p.His44Gln) | |
7 | g.44145262A>G | CA4239388 | GCK | c.*1270T>C (n.*1270T>C) c.*392T>C (n.*392T>C) n.498T>C c.306T>C (p.His102=) c.1275T>C (p.His425=) c.1272T>C (p.His424=) c.1335T>C (p.His445=) n.284T>C c.324T>C (p.His108=) c.1269T>C (p.His423=) c.1221T>C (p.His407=) n.652T>C c.261T>C (p.His87=) c.132T>C (p.His44=) | dbSNP ExAC gnomAD v2 |
7 | g.44145262A>T | CA367397236 | GCK | c.*1270T>A (n.*1270T>A) c.*392T>A (n.*392T>A) n.498T>A c.306T>A (p.His102Gln) c.1275T>A (p.His425Gln) c.1272T>A (p.His424Gln) c.1335T>A (p.His445Gln) n.284T>A c.324T>A (p.His108Gln) c.1269T>A (p.His423Gln) c.1221T>A (p.His407Gln) n.652T>A c.261T>A (p.His87Gln) c.132T>A (p.His44Gln) | |
7 | g.44145263T>A | CA367397243 | GCK | c.*1269A>T (n.*1269A>T) c.*391A>T (n.*391A>T) n.497A>T c.305A>T (p.His102Leu) c.1274A>T (p.His425Leu) c.1271A>T (p.His424Leu) c.1334A>T (p.His445Leu) n.283A>T c.323A>T (p.His108Leu) c.1268A>T (p.His423Leu) c.1220A>T (p.His407Leu) n.651A>T c.260A>T (p.His87Leu) c.131A>T (p.His44Leu) | |
7 | g.44145263T>C | CA367397241 | GCK | c.*1269A>G (n.*1269A>G) c.*391A>G (n.*391A>G) n.497A>G c.305A>G (p.His102Arg) c.1274A>G (p.His425Arg) c.1271A>G (p.His424Arg) c.1334A>G (p.His445Arg) n.283A>G c.323A>G (p.His108Arg) c.1268A>G (p.His423Arg) c.1220A>G (p.His407Arg) n.651A>G c.260A>G (p.His87Arg) c.131A>G (p.His44Arg) | |
7 | g.44145263T>G | CA367397239 | GCK | c.*1269A>C (n.*1269A>C) c.*391A>C (n.*391A>C) n.497A>C c.305A>C (p.His102Pro) c.1274A>C (p.His425Pro) c.1271A>C (p.His424Pro) c.1334A>C (p.His445Pro) n.283A>C c.323A>C (p.His108Pro) c.1268A>C (p.His423Pro) c.1220A>C (p.His407Pro) n.651A>C c.260A>C (p.His87Pro) c.131A>C (p.His44Pro) | ClinVar dbSNP |
7 | g.44145264G>A | CA367397245 | GCK | c.*1268C>T (n.*1268C>T) c.*390C>T (n.*390C>T) n.496C>T c.304C>T (p.His102Tyr) c.1273C>T (p.His425Tyr) c.1270C>T (p.His424Tyr) c.1333C>T (p.His445Tyr) n.282C>T c.322C>T (p.His108Tyr) c.1267C>T (p.His423Tyr) c.1219C>T (p.His407Tyr) n.650C>T c.259C>T (p.His87Tyr) c.130C>T (p.His44Tyr) | ClinVar |
7 | g.44145264G>C | CA367397247 | GCK | c.*1268C>G (n.*1268C>G) c.*390C>G (n.*390C>G) n.496C>G c.304C>G (p.His102Asp) c.1273C>G (p.His425Asp) c.1270C>G (p.His424Asp) c.1333C>G (p.His445Asp) n.282C>G c.322C>G (p.His108Asp) c.1267C>G (p.His423Asp) c.1219C>G (p.His407Asp) n.650C>G c.259C>G (p.His87Asp) c.130C>G (p.His44Asp) | |
7 | g.44145264G>T | CA367397248 | GCK | c.*1268C>A (n.*1268C>A) c.*390C>A (n.*390C>A) n.496C>A c.304C>A (p.His102Asn) c.1273C>A (p.His425Asn) c.1270C>A (p.His424Asn) c.1333C>A (p.His445Asn) n.282C>A c.322C>A (p.His108Asn) c.1267C>A (p.His423Asn) c.1219C>A (p.His407Asn) n.650C>A c.259C>A (p.His87Asn) c.130C>A (p.His44Asn) | gnomAD v4 |
7 | g.44145265G>A | CA454606705 | GCK | c.*1267C>T (n.*1267C>T) c.*389C>T (n.*389C>T) n.495C>T c.303C>T (p.Phe101=) c.1272C>T (p.Phe424=) c.1269C>T (p.Phe423=) c.1332C>T (p.Phe444=) n.281C>T c.321C>T (p.Phe107=) c.1266C>T (p.Phe422=) c.1218C>T (p.Phe406=) n.649C>T c.258C>T (p.Phe86=) c.129C>T (p.Phe43=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.44145265G>C | CA367397251 | GCK | c.*1267C>G (n.*1267C>G) c.*389C>G (n.*389C>G) n.495C>G c.303C>G (p.Phe101Leu) c.1272C>G (p.Phe424Leu) c.1269C>G (p.Phe423Leu) c.1332C>G (p.Phe444Leu) n.281C>G c.321C>G (p.Phe107Leu) c.1266C>G (p.Phe422Leu) c.1218C>G (p.Phe406Leu) n.649C>G c.258C>G (p.Phe86Leu) c.129C>G (p.Phe43Leu) | |
7 | g.44145265G= | CA1703612707 | GCK | c.*1267C= (n.*1267C=) c.*389C= (n.*389C=) n.495C= c.303C= (p.Phe101=) c.1272C= (p.Phe424=) c.1269C= (p.Phe423=) c.1332C= (p.Phe444=) n.281C= c.321C= (p.Phe107=) c.1266C= (p.Phe422=) c.1218C= (p.Phe406=) n.649C= c.258C= (p.Phe86=) c.129C= (p.Phe43=) | |
7 | g.44145265G>T | CA367397252 | GCK | c.*1267C>A (n.*1267C>A) c.*389C>A (n.*389C>A) n.495C>A c.303C>A (p.Phe101Leu) c.1272C>A (p.Phe424Leu) c.1269C>A (p.Phe423Leu) c.1332C>A (p.Phe444Leu) n.281C>A c.321C>A (p.Phe107Leu) c.1266C>A (p.Phe422Leu) c.1218C>A (p.Phe406Leu) n.649C>A c.258C>A (p.Phe86Leu) c.129C>A (p.Phe43Leu) | |
7 | g.44145266A= | CA1703612708 | GCK | c.*1266T= (n.*1266T=) c.*388T= (n.*388T=) n.494T= c.302T= (p.Phe101=) c.1271T= (p.Phe424=) c.1268T= (p.Phe423=) c.1331T= (p.Phe444=) n.280T= c.320T= (p.Phe107=) c.1265T= (p.Phe422=) c.1217T= (p.Phe406=) n.648T= c.257T= (p.Phe86=) c.128T= (p.Phe43=) | |
7 | g.44145266A>C | CA367397254 | GCK | c.*1266T>G (n.*1266T>G) c.*388T>G (n.*388T>G) n.494T>G c.302T>G (p.Phe101Cys) c.1271T>G (p.Phe424Cys) c.1268T>G (p.Phe423Cys) c.1331T>G (p.Phe444Cys) n.280T>G c.320T>G (p.Phe107Cys) c.1265T>G (p.Phe422Cys) c.1217T>G (p.Phe406Cys) n.648T>G c.257T>G (p.Phe86Cys) c.128T>G (p.Phe43Cys) | |
7 | g.44145266A>G | CA367397256 | GCK | c.*1266T>C (n.*1266T>C) c.*388T>C (n.*388T>C) n.494T>C c.302T>C (p.Phe101Ser) c.1271T>C (p.Phe424Ser) c.1268T>C (p.Phe423Ser) c.1331T>C (p.Phe444Ser) n.280T>C c.320T>C (p.Phe107Ser) c.1265T>C (p.Phe422Ser) c.1217T>C (p.Phe406Ser) n.648T>C c.257T>C (p.Phe86Ser) c.128T>C (p.Phe43Ser) | ClinVar dbSNP |
7 | g.44145266A>T | CA213740 | GCK | c.*1266T>A (n.*1266T>A) c.*388T>A (n.*388T>A) n.494T>A c.302T>A (p.Phe101Tyr) c.1271T>A (p.Phe424Tyr) c.1268T>A (p.Phe423Tyr) c.1331T>A (p.Phe444Tyr) n.280T>A c.320T>A (p.Phe107Tyr) c.1265T>A (p.Phe422Tyr) c.1217T>A (p.Phe406Tyr) n.648T>A c.257T>A (p.Phe86Tyr) c.128T>A (p.Phe43Tyr) | ClinVar dbSNP |
7 | g.44145267A>C | CA367397259 | GCK | c.*1265T>G (n.*1265T>G) c.*387T>G (n.*387T>G) n.493T>G c.301T>G (p.Phe101Val) c.1270T>G (p.Phe424Val) c.1267T>G (p.Phe423Val) c.1330T>G (p.Phe444Val) n.279T>G c.319T>G (p.Phe107Val) c.1264T>G (p.Phe422Val) c.1216T>G (p.Phe406Val) n.647T>G c.256T>G (p.Phe86Val) c.127T>G (p.Phe43Val) | |
7 | g.44145267A>G | CA367397261 | GCK | c.*1265T>C (n.*1265T>C) c.*387T>C (n.*387T>C) n.493T>C c.301T>C (p.Phe101Leu) c.1270T>C (p.Phe424Leu) c.1267T>C (p.Phe423Leu) c.1330T>C (p.Phe444Leu) n.279T>C c.319T>C (p.Phe107Leu) c.1264T>C (p.Phe422Leu) c.1216T>C (p.Phe406Leu) n.647T>C c.256T>C (p.Phe86Leu) c.127T>C (p.Phe43Leu) | |
7 | g.44145267A>T | CA367397263 | GCK | c.*1265T>A (n.*1265T>A) c.*387T>A (n.*387T>A) n.493T>A c.301T>A (p.Phe101Ile) c.1270T>A (p.Phe424Ile) c.1267T>A (p.Phe423Ile) c.1330T>A (p.Phe444Ile) n.279T>A c.319T>A (p.Phe107Ile) c.1264T>A (p.Phe422Ile) c.1216T>A (p.Phe406Ile) n.647T>A c.256T>A (p.Phe86Ile) c.127T>A (p.Phe43Ile) | |
7 | g.44145268C>A | CA454606706 | GCK | c.*1264G>T (n.*1264G>T) c.*386G>T (n.*386G>T) n.492G>T c.300G>T (p.Arg100=) c.1269G>T (p.Arg423=) c.1266G>T (p.Arg422=) c.1329G>T (p.Arg443=) n.278G>T c.318G>T (p.Arg106=) c.1263G>T (p.Arg421=) c.1215G>T (p.Arg405=) n.646G>T c.255G>T (p.Arg85=) c.126G>T (p.Arg42=) | |
7 | g.44145268C>G | CA454606707 | GCK | c.*1264G>C (n.*1264G>C) c.*386G>C (n.*386G>C) n.492G>C c.300G>C (p.Arg100=) c.1269G>C (p.Arg423=) c.1266G>C (p.Arg422=) c.1329G>C (p.Arg443=) n.278G>C c.318G>C (p.Arg106=) c.1263G>C (p.Arg421=) c.1215G>C (p.Arg405=) n.646G>C c.255G>C (p.Arg85=) c.126G>C (p.Arg42=) | |
7 | g.44145268C>T | CA454606708 | GCK | c.*1264G>A (n.*1264G>A) c.*386G>A (n.*386G>A) n.492G>A c.300G>A (p.Arg100=) c.1269G>A (p.Arg423=) c.1266G>A (p.Arg422=) c.1329G>A (p.Arg443=) n.278G>A c.318G>A (p.Arg106=) c.1263G>A (p.Arg421=) c.1215G>A (p.Arg405=) n.646G>A c.255G>A (p.Arg85=) c.126G>A (p.Arg42=) | |
7 | g.44145269C>A | CA157911892 | GCK | c.*1263G>T (n.*1263G>T) c.*385G>T (n.*385G>T) n.491G>T c.299G>T (p.Arg100Leu) c.1268G>T (p.Arg423Leu) c.1265G>T (p.Arg422Leu) c.1328G>T (p.Arg443Leu) n.277G>T c.317G>T (p.Arg106Leu) c.1262G>T (p.Arg421Leu) c.1214G>T (p.Arg405Leu) n.645G>T c.254G>T (p.Arg85Leu) c.125G>T (p.Arg42Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44145269C= | CA1703612709 | GCK | c.*1263G= (n.*1263G=) c.*385G= (n.*385G=) n.491G= c.299G= (p.Arg100=) c.1268G= (p.Arg423=) c.1265G= (p.Arg422=) c.1328G= (p.Arg443=) n.277G= c.317G= (p.Arg106=) c.1262G= (p.Arg421=) c.1214G= (p.Arg405=) n.645G= c.254G= (p.Arg85=) c.125G= (p.Arg42=) | |
7 | g.44145269C>G | CA367397268 | GCK | c.*1263G>C (n.*1263G>C) c.*385G>C (n.*385G>C) n.491G>C c.299G>C (p.Arg100Pro) c.1268G>C (p.Arg423Pro) c.1265G>C (p.Arg422Pro) c.1328G>C (p.Arg443Pro) n.277G>C c.317G>C (p.Arg106Pro) c.1262G>C (p.Arg421Pro) c.1214G>C (p.Arg405Pro) n.645G>C c.254G>C (p.Arg85Pro) c.125G>C (p.Arg42Pro) | ClinVar dbSNP |
7 | g.44145269C>T | CA367397265 | GCK | c.*1263G>A (n.*1263G>A) c.*385G>A (n.*385G>A) n.491G>A c.299G>A (p.Arg100Gln) c.1268G>A (p.Arg423Gln) c.1265G>A (p.Arg422Gln) c.1328G>A (p.Arg443Gln) n.277G>A c.317G>A (p.Arg106Gln) c.1262G>A (p.Arg421Gln) c.1214G>A (p.Arg405Gln) n.645G>A c.254G>A (p.Arg85Gln) c.125G>A (p.Arg42Gln) | gnomAD v3 gnomAD v4 |
7 | g.44145269_44145279delinsCGCTCCTTGAA | CA1703612710 | GCK | c.*1253_*1263delinsTTCAAGGAGCG (n.*1253_*1263delinsTTCAAGGAGCG) c.*375_*385delinsTTCAAGGAGCG (n.*375_*385delinsTTCAAGGAGCG) n.481_491delinsTTCAAGGAGCG c.289_299delinsTTCAAGGAGCG (p.Phe97=) c.1258_1268delinsTTCAAGGAGCG (p.Phe420=) c.1255_1265delinsTTCAAGGAGCG (p.Phe419=) c.1318_1328delinsTTCAAGGAGCG (p.Phe440=) n.267_277delinsTTCAAGGAGCG c.307_317delinsTTCAAGGAGCG (p.Phe103=) c.1252_1262delinsTTCAAGGAGCG (p.Phe418=) c.1204_1214delinsTTCAAGGAGCG (p.Phe402=) n.635_645delinsTTCAAGGAGCG c.244_254delinsTTCAAGGAGCG (p.Phe82=) c.115_125delinsTTCAAGGAGCG (p.Phe39=) | |
7 | g.44145270G>A | CA367397271 | GCK | c.*1262C>T (n.*1262C>T) c.*384C>T (n.*384C>T) n.490C>T c.298C>T (p.Arg100Trp) c.1267C>T (p.Arg423Trp) c.1264C>T (p.Arg422Trp) c.1327C>T (p.Arg443Trp) n.276C>T c.316C>T (p.Arg106Trp) c.1261C>T (p.Arg421Trp) c.1213C>T (p.Arg405Trp) n.644C>T c.253C>T (p.Arg85Trp) c.124C>T (p.Arg42Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145270G>C | CA367397273 | GCK | c.*1262C>G (n.*1262C>G) c.*384C>G (n.*384C>G) n.490C>G c.298C>G (p.Arg100Gly) c.1267C>G (p.Arg423Gly) c.1264C>G (p.Arg422Gly) c.1327C>G (p.Arg443Gly) n.276C>G c.316C>G (p.Arg106Gly) c.1261C>G (p.Arg421Gly) c.1213C>G (p.Arg405Gly) n.644C>G c.253C>G (p.Arg85Gly) c.124C>G (p.Arg42Gly) | ClinVar |
7 | g.44145270G= | CA1703612711 | GCK | c.*1262C= (n.*1262C=) c.*384C= (n.*384C=) n.490C= c.298C= (p.Arg100=) c.1267C= (p.Arg423=) c.1264C= (p.Arg422=) c.1327C= (p.Arg443=) n.276C= c.316C= (p.Arg106=) c.1261C= (p.Arg421=) c.1213C= (p.Arg405=) n.644C= c.253C= (p.Arg85=) c.124C= (p.Arg42=) | |
7 | g.44145270G>T | CA454606709 | GCK | c.*1262C>A (n.*1262C>A) c.*384C>A (n.*384C>A) n.490C>A c.298C>A (p.Arg100=) c.1267C>A (p.Arg423=) c.1264C>A (p.Arg422=) c.1327C>A (p.Arg443=) n.276C>A c.316C>A (p.Arg106=) c.1261C>A (p.Arg421=) c.1213C>A (p.Arg405=) n.644C>A c.253C>A (p.Arg85=) c.124C>A (p.Arg42=) | gnomAD v4 |
7 | g.44145273_44145282del | CA915948961 | GCK | c.*1253_*1262del c.*375_*384del n.481_490del c.289_298del c.1258_1267del c.1255_1264del c.1318_1327del n.267_276del c.307_316del c.1252_1261del c.1204_1213del n.635_644del c.244_253del c.115_124del | ClinVar dbSNP |
7 | g.44145271C>A | CA367397275 | GCK | c.*1261G>T (n.*1261G>T) c.*383G>T (n.*383G>T) n.489G>T c.297G>T (p.Glu99Asp) c.1266G>T (p.Glu422Asp) c.1263G>T (p.Glu421Asp) c.1326G>T (p.Glu442Asp) n.275G>T c.315G>T (p.Glu105Asp) c.1260G>T (p.Glu420Asp) c.1212G>T (p.Glu404Asp) n.643G>T c.252G>T (p.Glu84Asp) c.123G>T (p.Glu41Asp) | |
7 | g.44145271C= | CA1703612712 | GCK | c.*1261G= (n.*1261G=) c.*383G= (n.*383G=) n.489G= c.297G= (p.Glu99=) c.1266G= (p.Glu422=) c.1263G= (p.Glu421=) c.1326G= (p.Glu442=) n.275G= c.315G= (p.Glu105=) c.1260G= (p.Glu420=) c.1212G= (p.Glu404=) n.643G= c.252G= (p.Glu84=) c.123G= (p.Glu41=) | |
7 | g.44145271C>G | CA367397277 | GCK | c.*1261G>C (n.*1261G>C) c.*383G>C (n.*383G>C) n.489G>C c.297G>C (p.Glu99Asp) c.1266G>C (p.Glu422Asp) c.1263G>C (p.Glu421Asp) c.1326G>C (p.Glu442Asp) n.275G>C c.315G>C (p.Glu105Asp) c.1260G>C (p.Glu420Asp) c.1212G>C (p.Glu404Asp) n.643G>C c.252G>C (p.Glu84Asp) c.123G>C (p.Glu41Asp) | gnomAD v4 |
7 | g.44145271C>T | CA454606710 | GCK | c.*1261G>A (n.*1261G>A) c.*383G>A (n.*383G>A) n.489G>A c.297G>A (p.Glu99=) c.1266G>A (p.Glu422=) c.1263G>A (p.Glu421=) c.1326G>A (p.Glu442=) n.275G>A c.315G>A (p.Glu105=) c.1260G>A (p.Glu420=) c.1212G>A (p.Glu404=) n.643G>A c.252G>A (p.Glu84=) c.123G>A (p.Glu41=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.44145272T>A | CA367397279 | GCK | c.*1260A>T (n.*1260A>T) c.*382A>T (n.*382A>T) n.488A>T c.296A>T (p.Glu99Val) c.1265A>T (p.Glu422Val) c.1262A>T (p.Glu421Val) c.1325A>T (p.Glu442Val) n.274A>T c.314A>T (p.Glu105Val) c.1259A>T (p.Glu420Val) c.1211A>T (p.Glu404Val) n.642A>T c.251A>T (p.Glu84Val) c.122A>T (p.Glu41Val) | |
7 | g.44145272T>C | CA367397281 | GCK | c.*1260A>G (n.*1260A>G) c.*382A>G (n.*382A>G) n.488A>G c.296A>G (p.Glu99Gly) c.1265A>G (p.Glu422Gly) c.1262A>G (p.Glu421Gly) c.1325A>G (p.Glu442Gly) n.274A>G c.314A>G (p.Glu105Gly) c.1259A>G (p.Glu420Gly) c.1211A>G (p.Glu404Gly) n.642A>G c.251A>G (p.Glu84Gly) c.122A>G (p.Glu41Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145272T>G | CA367397283 | GCK | c.*1260A>C (n.*1260A>C) c.*382A>C (n.*382A>C) n.488A>C c.296A>C (p.Glu99Ala) c.1265A>C (p.Glu422Ala) c.1262A>C (p.Glu421Ala) c.1325A>C (p.Glu442Ala) n.274A>C c.314A>C (p.Glu105Ala) c.1259A>C (p.Glu420Ala) c.1211A>C (p.Glu404Ala) n.642A>C c.251A>C (p.Glu84Ala) c.122A>C (p.Glu41Ala) | |
7 | g.44145272T= | CA1703612713 | GCK | c.*1260A= (n.*1260A=) c.*382A= (n.*382A=) n.488A= c.296A= (p.Glu99=) c.1265A= (p.Glu422=) c.1262A= (p.Glu421=) c.1325A= (p.Glu442=) n.274A= c.314A= (p.Glu105=) c.1259A= (p.Glu420=) c.1211A= (p.Glu404=) n.642A= c.251A= (p.Glu84=) c.122A= (p.Glu41=) | |
7 | g.44145273C>A | CA367397285 | GCK | c.*1259G>T (n.*1259G>T) c.*381G>T (n.*381G>T) n.487G>T c.295G>T (p.Glu99Ter) c.1264G>T (p.Glu422Ter) c.1261G>T (p.Glu421Ter) c.1324G>T (p.Glu442Ter) n.273G>T c.313G>T (p.Glu105Ter) c.1258G>T (p.Glu420Ter) c.1210G>T (p.Glu404Ter) n.641G>T c.250G>T (p.Glu84Ter) c.121G>T (p.Glu41Ter) | ClinVar gnomAD v4 |
7 | g.44145273C>G | CA367397286 | GCK | c.*1259G>C (n.*1259G>C) c.*381G>C (n.*381G>C) n.487G>C c.295G>C (p.Glu99Gln) c.1264G>C (p.Glu422Gln) c.1261G>C (p.Glu421Gln) c.1324G>C (p.Glu442Gln) n.273G>C c.313G>C (p.Glu105Gln) c.1258G>C (p.Glu420Gln) c.1210G>C (p.Glu404Gln) n.641G>C c.250G>C (p.Glu84Gln) c.121G>C (p.Glu41Gln) | |
7 | g.44145273C>T | CA367397288 | GCK | c.*1259G>A (n.*1259G>A) c.*381G>A (n.*381G>A) n.487G>A c.295G>A (p.Glu99Lys) c.1264G>A (p.Glu422Lys) c.1261G>A (p.Glu421Lys) c.1324G>A (p.Glu442Lys) n.273G>A c.313G>A (p.Glu105Lys) c.1258G>A (p.Glu420Lys) c.1210G>A (p.Glu404Lys) n.641G>A c.250G>A (p.Glu84Lys) c.121G>A (p.Glu41Lys) | |
7 | g.44145274del | CA2018007672 | GCK | c.*1259del (n.*1259del) c.*381del (n.*381del) n.487del c.295del (p.Glu99SerfsTer10) c.1264del (p.Glu422SerfsTer10) c.1261del (p.Glu421SerfsTer10) c.1324del (p.Glu442SerfsTer10) n.273del c.313del (p.Glu105SerfsTer10) c.1258del (p.Glu420SerfsTer10) c.1210del (p.Glu404SerfsTer10) n.641del c.250del (p.Glu84SerfsTer10) c.121del (p.Glu41SerfsTer10) | ClinVar |
7 | g.44145274C>A | CA367397290 | GCK | c.*1258G>T (n.*1258G>T) c.*380G>T (n.*380G>T) n.486G>T c.294G>T (p.Lys98Asn) c.1263G>T (p.Lys421Asn) c.1260G>T (p.Lys420Asn) c.1323G>T (p.Lys441Asn) n.272G>T c.312G>T (p.Lys104Asn) c.1257G>T (p.Lys419Asn) c.1209G>T (p.Lys403Asn) n.640G>T c.249G>T (p.Lys83Asn) c.120G>T (p.Lys40Asn) | ClinVar |
7 | g.44145274C>G | CA367397292 | GCK | c.*1258G>C (n.*1258G>C) c.*380G>C (n.*380G>C) n.486G>C c.294G>C (p.Lys98Asn) c.1263G>C (p.Lys421Asn) c.1260G>C (p.Lys420Asn) c.1323G>C (p.Lys441Asn) n.272G>C c.312G>C (p.Lys104Asn) c.1257G>C (p.Lys419Asn) c.1209G>C (p.Lys403Asn) n.640G>C c.249G>C (p.Lys83Asn) c.120G>C (p.Lys40Asn) | |
7 | g.44145274C>T | CA454606713 | GCK | c.*1258G>A (n.*1258G>A) c.*380G>A (n.*380G>A) n.486G>A c.294G>A (p.Lys98=) c.1263G>A (p.Lys421=) c.1260G>A (p.Lys420=) c.1323G>A (p.Lys441=) n.272G>A c.312G>A (p.Lys104=) c.1257G>A (p.Lys419=) c.1209G>A (p.Lys403=) n.640G>A c.249G>A (p.Lys83=) c.120G>A (p.Lys40=) | |
7 | g.44145275T>A | CA367397297 | GCK | c.*1257A>T (n.*1257A>T) c.*379A>T (n.*379A>T) n.485A>T c.293A>T (p.Lys98Met) c.1262A>T (p.Lys421Met) c.1259A>T (p.Lys420Met) c.1322A>T (p.Lys441Met) n.271A>T c.311A>T (p.Lys104Met) c.1256A>T (p.Lys419Met) c.1208A>T (p.Lys403Met) n.639A>T c.248A>T (p.Lys83Met) c.119A>T (p.Lys40Met) | |
7 | g.44145275T>C | CA367397295 | GCK | c.*1257A>G (n.*1257A>G) c.*379A>G (n.*379A>G) n.485A>G c.293A>G (p.Lys98Arg) c.1262A>G (p.Lys421Arg) c.1259A>G (p.Lys420Arg) c.1322A>G (p.Lys441Arg) n.271A>G c.311A>G (p.Lys104Arg) c.1256A>G (p.Lys419Arg) c.1208A>G (p.Lys403Arg) n.639A>G c.248A>G (p.Lys83Arg) c.119A>G (p.Lys40Arg) | |
7 | g.44145275T>G | CA367397294 | GCK | c.*1257A>C (n.*1257A>C) c.*379A>C (n.*379A>C) n.485A>C c.293A>C (p.Lys98Thr) c.1262A>C (p.Lys421Thr) c.1259A>C (p.Lys420Thr) c.1322A>C (p.Lys441Thr) n.271A>C c.311A>C (p.Lys104Thr) c.1256A>C (p.Lys419Thr) c.1208A>C (p.Lys403Thr) n.639A>C c.248A>C (p.Lys83Thr) c.119A>C (p.Lys40Thr) | |
7 | g.44145276T>A | CA367397299 | GCK | c.*1256A>T (n.*1256A>T) c.*378A>T (n.*378A>T) n.484A>T c.292A>T (p.Lys98Ter) c.1261A>T (p.Lys421Ter) c.1258A>T (p.Lys420Ter) c.1321A>T (p.Lys441Ter) n.270A>T c.310A>T (p.Lys104Ter) c.1255A>T (p.Lys419Ter) c.1207A>T (p.Lys403Ter) n.638A>T c.247A>T (p.Lys83Ter) c.118A>T (p.Lys40Ter) | |
7 | g.44145276T>C | CA367397303 | GCK | c.*1256A>G (n.*1256A>G) c.*378A>G (n.*378A>G) n.484A>G c.292A>G (p.Lys98Glu) c.1261A>G (p.Lys421Glu) c.1258A>G (p.Lys420Glu) c.1321A>G (p.Lys441Glu) n.270A>G c.310A>G (p.Lys104Glu) c.1255A>G (p.Lys419Glu) c.1207A>G (p.Lys403Glu) n.638A>G c.247A>G (p.Lys83Glu) c.118A>G (p.Lys40Glu) | |
7 | g.44145276T>G | CA367397301 | GCK | c.*1256A>C (n.*1256A>C) c.*378A>C (n.*378A>C) n.484A>C c.292A>C (p.Lys98Gln) c.1261A>C (p.Lys421Gln) c.1258A>C (p.Lys420Gln) c.1321A>C (p.Lys441Gln) n.270A>C c.310A>C (p.Lys104Gln) c.1255A>C (p.Lys419Gln) c.1207A>C (p.Lys403Gln) n.638A>C c.247A>C (p.Lys83Gln) c.118A>C (p.Lys40Gln) | |
7 | g.44145277G>A | CA454606714 | GCK | c.*1255C>T (n.*1255C>T) c.*377C>T (n.*377C>T) n.483C>T c.291C>T (p.Phe97=) c.1260C>T (p.Phe420=) c.1257C>T (p.Phe419=) c.1320C>T (p.Phe440=) n.269C>T c.309C>T (p.Phe103=) c.1254C>T (p.Phe418=) c.1206C>T (p.Phe402=) n.637C>T c.246C>T (p.Phe82=) c.117C>T (p.Phe39=) | |
7 | g.44145277G>C | CA367397305 | GCK | c.*1255C>G (n.*1255C>G) c.*377C>G (n.*377C>G) n.483C>G c.291C>G (p.Phe97Leu) c.1260C>G (p.Phe420Leu) c.1257C>G (p.Phe419Leu) c.1320C>G (p.Phe440Leu) n.269C>G c.309C>G (p.Phe103Leu) c.1254C>G (p.Phe418Leu) c.1206C>G (p.Phe402Leu) n.637C>G c.246C>G (p.Phe82Leu) c.117C>G (p.Phe39Leu) | |
7 | g.44145277G>T | CA367397306 | GCK | c.*1255C>A (n.*1255C>A) c.*377C>A (n.*377C>A) n.483C>A c.291C>A (p.Phe97Leu) c.1260C>A (p.Phe420Leu) c.1257C>A (p.Phe419Leu) c.1320C>A (p.Phe440Leu) n.269C>A c.309C>A (p.Phe103Leu) c.1254C>A (p.Phe418Leu) c.1206C>A (p.Phe402Leu) n.637C>A c.246C>A (p.Phe82Leu) c.117C>A (p.Phe39Leu) | |
7 | g.44145281_44145291del | CA2695202969 | GCK | c.*1252-7_*1255del c.*374-7_*377del n.480-7_483del c.288-7_291del c.1257-7_1260del c.1254-7_1257del c.1317-7_1320del n.266-7_269del c.306-7_309del c.1251-7_1254del c.1203-7_1206del n.634-7_637del c.243-7_246del c.114-7_117del | |
7 | g.44145282_44145297del | CA2580610925 | GCK | c.*1252-12_*1255del c.*374-12_*377del n.480-12_483del c.288-12_291del c.1257-12_1260del c.1254-12_1257del c.1317-12_1320del n.266-12_269del c.306-12_309del c.1251-12_1254del c.1203-12_1206del n.634-12_637del c.243-12_246del c.114-12_117del | ClinVar |
7 | g.44145278A>C | CA367397308 | GCK | c.*1254T>G (n.*1254T>G) c.*376T>G (n.*376T>G) n.482T>G c.290T>G (p.Phe97Cys) c.1259T>G (p.Phe420Cys) c.1256T>G (p.Phe419Cys) c.1319T>G (p.Phe440Cys) n.268T>G c.308T>G (p.Phe103Cys) c.1253T>G (p.Phe418Cys) c.1205T>G (p.Phe402Cys) n.636T>G c.245T>G (p.Phe82Cys) c.116T>G (p.Phe39Cys) | |
7 | g.44145278A>G | CA367397309 | GCK | c.*1254T>C (n.*1254T>C) c.*376T>C (n.*376T>C) n.482T>C c.290T>C (p.Phe97Ser) c.1259T>C (p.Phe420Ser) c.1256T>C (p.Phe419Ser) c.1319T>C (p.Phe440Ser) n.268T>C c.308T>C (p.Phe103Ser) c.1253T>C (p.Phe418Ser) c.1205T>C (p.Phe402Ser) n.636T>C c.245T>C (p.Phe82Ser) c.116T>C (p.Phe39Ser) | ClinVar |
7 | g.44145278A>T | CA367397311 | GCK | c.*1254T>A (n.*1254T>A) c.*376T>A (n.*376T>A) n.482T>A c.290T>A (p.Phe97Tyr) c.1259T>A (p.Phe420Tyr) c.1256T>A (p.Phe419Tyr) c.1319T>A (p.Phe440Tyr) n.268T>A c.308T>A (p.Phe103Tyr) c.1253T>A (p.Phe418Tyr) c.1205T>A (p.Phe402Tyr) n.636T>A c.245T>A (p.Phe82Tyr) c.116T>A (p.Phe39Tyr) | |
7 | g.44145279del | CA1139771322 | GCK | c.*1254del (n.*1254del) c.*376del (n.*376del) n.482del c.290del (p.Phe97SerfsTer12) c.1259del (p.Phe420SerfsTer12) c.1256del (p.Phe419SerfsTer12) c.1319del (p.Phe440SerfsTer12) n.268del c.308del (p.Phe103SerfsTer12) c.1253del (p.Phe418SerfsTer12) c.1205del (p.Phe402SerfsTer12) n.636del c.245del (p.Phe82SerfsTer12) c.116del (p.Phe39SerfsTer12) | ClinVar |
7 | g.44145279A= | CA1703612714 | GCK | c.*1253T= (n.*1253T=) c.*375T= (n.*375T=) n.481T= c.289T= (p.Phe97=) c.1258T= (p.Phe420=) c.1255T= (p.Phe419=) c.1318T= (p.Phe440=) n.267T= c.307T= (p.Phe103=) c.1252T= (p.Phe418=) c.1204T= (p.Phe402=) n.635T= c.244T= (p.Phe82=) c.115T= (p.Phe39=) | |
7 | g.44145279A>C | CA367397313 | GCK | c.*1253T>G (n.*1253T>G) c.*375T>G (n.*375T>G) n.481T>G c.289T>G (p.Phe97Val) c.1258T>G (p.Phe420Val) c.1255T>G (p.Phe419Val) c.1318T>G (p.Phe440Val) n.267T>G c.307T>G (p.Phe103Val) c.1252T>G (p.Phe418Val) c.1204T>G (p.Phe402Val) n.635T>G c.244T>G (p.Phe82Val) c.115T>G (p.Phe39Val) | ClinVar |
7 | g.44145279A>G | CA367397316 | GCK | c.*1253T>C (n.*1253T>C) c.*375T>C (n.*375T>C) n.481T>C c.289T>C (p.Phe97Leu) c.1258T>C (p.Phe420Leu) c.1255T>C (p.Phe419Leu) c.1318T>C (p.Phe440Leu) n.267T>C c.307T>C (p.Phe103Leu) c.1252T>C (p.Phe418Leu) c.1204T>C (p.Phe402Leu) n.635T>C c.244T>C (p.Phe82Leu) c.115T>C (p.Phe39Leu) | ClinVar dbSNP |
7 | g.44145279A>T | CA367397318 | GCK | c.*1253T>A (n.*1253T>A) c.*375T>A (n.*375T>A) n.481T>A c.289T>A (p.Phe97Ile) c.1258T>A (p.Phe420Ile) c.1255T>A (p.Phe419Ile) c.1318T>A (p.Phe440Ile) n.267T>A c.307T>A (p.Phe103Ile) c.1252T>A (p.Phe418Ile) c.1204T>A (p.Phe402Ile) n.635T>A c.244T>A (p.Phe82Ile) c.115T>A (p.Phe39Ile) | |
7 | g.44145280G>A | CA454606717 | GCK | c.*1252C>T (n.*1252C>T) c.*374C>T (n.*374C>T) n.480C>T c.288C>T (p.Ser96=) c.1257C>T (p.Ser419=) c.1254C>T (p.Ser418=) c.1317C>T (p.Ser439=) n.266C>T c.306C>T (p.Ser102=) c.1251C>T (p.Ser417=) c.1203C>T (p.Ser401=) n.634C>T c.243C>T (p.Ser81=) c.114C>T (p.Ser38=) | |
7 | g.44145280G>C | CA367397321 | GCK | c.*1252C>G (n.*1252C>G) c.*374C>G (n.*374C>G) n.480C>G c.288C>G (p.Ser96Arg) c.1257C>G (p.Ser419Arg) c.1254C>G (p.Ser418Arg) c.1317C>G (p.Ser439Arg) n.266C>G c.306C>G (p.Ser102Arg) c.1251C>G (p.Ser417Arg) c.1203C>G (p.Ser401Arg) n.634C>G c.243C>G (p.Ser81Arg) c.114C>G (p.Ser38Arg) | |
7 | g.44145280G>T | CA367397322 | GCK | c.*1252C>A (n.*1252C>A) c.*374C>A (n.*374C>A) n.480C>A c.288C>A (p.Ser96Arg) c.1257C>A (p.Ser419Arg) c.1254C>A (p.Ser418Arg) c.1317C>A (p.Ser439Arg) n.266C>A c.306C>A (p.Ser102Arg) c.1251C>A (p.Ser417Arg) c.1203C>A (p.Ser401Arg) n.634C>A c.243C>A (p.Ser81Arg) c.114C>A (p.Ser38Arg) | gnomAD v4 |