| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44145009_44145176delinsA | CA2496602227 | GCK | c.*1356_*1523delinsT (n.*1356_*1523delinsT) c.*478_*645delinsT (n.*478_*645delinsT) n.584_751delinsT c.392_*127delinsT (n.[c.392_*127delinsT;Ser131LeufsTer25]) c.1361_*127delinsT (n.[c.1361_*127delinsT;Ser454LeufsTer25]) c.1358_*127delinsT (n.[c.1358_*127delinsT;Ser453LeufsTer25]) c.1421_*127delinsT (n.[c.1421_*127delinsT;Ser474LeufsTer25]) n.370_381+156delinsT c.1358_1369+156delinsT c.410_577delinsT (n.[c.410_577delinsT;Ser137LeufsTer25]) c.1355_*127delinsT (n.[c.1355_*127delinsT;Ser452LeufsTer25]) n.738_905delinsT c.1355_1522delinsT (n.[c.1355_1522delinsT;Ser452LeufsTer25]) c.347_*127delinsT (n.[c.347_*127delinsT;Ser116LeufsTer25]) c.218_229+156delinsT c.218_*127delinsT (n.[c.218_*127delinsT;Ser73LeufsTer25]) | ClinVar |
| 7 | g.44145165_44145194delinsAGGCCACCGCCGAGACCAGGGCCGCGCCCC | CA1703612647 | GCK | c.*1338_*1367delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT (n.*1338_*1367delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT) c.*460_*489delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT (n.*460_*489delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT) n.566_595delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT c.374_403delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT (p.Arg125=) c.1343_1372delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT (p.Arg448=) c.1340_1369delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT (p.Arg447=) c.1403_1432delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT (p.Arg468=) n.352_381delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT c.392_421delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT (p.Arg131=) c.1337_1366delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT (p.Arg446=) c.1289_1318delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT (p.Arg430=) n.720_749delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT c.329_358delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT (p.Arg110=) c.200_229delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT (p.Arg67=) | |
| 7 | g.44145172_44145200del | CA838788768 | GCK | c.*1338_*1366del (n.*1338_*1366del) c.*460_*488del (n.*460_*488del) n.566_594del c.374_402del (p.Arg125LeufsTer2) c.1343_1371del (p.Arg448LeufsTer2) c.1340_1368del (p.Arg447LeufsTer2) c.1403_1431del (p.Arg468LeufsTer2) n.352_380del c.1340_1368del (p.Arg447LeufsTer15) c.392_420del (p.Arg131LeufsTer2) c.1337_1365del (p.Arg446LeufsTer2) c.1289_1317del (p.Arg430LeufsTer2) n.720_748del c.329_357del (p.Arg110LeufsTer2) c.200_228del (p.Arg67LeufsTer15) c.200_228del (p.Arg67LeufsTer2) | ClinVar dbSNP |
| 7 | g.44145170_44145588del | CA2573142177 | GCK | c.*1163_*1365del c.*285_*487del n.391_593del c.199_401del c.1168_1370del c.1165_1367del c.1228_1430del n.177_379del c.217_419del c.1162_1364del c.1114_1316del n.545_747del c.154_356del c.25_227del | ClinVar |
| 7 | g.44145174_44145176dup | CA645372837 | GCK | c.*1359_*1361dup (n.*1359_*1361dup) c.*481_*483dup (n.*481_*483dup) n.587_589dup c.395_397dup (p.Ala132_Val133insAla) c.1364_1366dup (p.Ala455_Val456insAla) c.1361_1363dup (p.Ala454_Val455insAla) c.1424_1426dup (p.Ala475_Val476insAla) n.373_375dup c.413_415dup (p.Ala138_Val139insAla) c.1358_1360dup (p.Ala453_Val454insAla) c.1310_1312dup (p.Ala437_Val438insAla) n.741_743dup c.350_352dup (p.Ala117_Val118insAla) c.221_223dup (p.Ala74_Val75insAla) | ClinVar dbSNP |
| 7 | g.44145171_44145250delinsCCGCCGAGACCAGGGCCGCGCCCCGGCCACTGCCCTCCTCCGACTCGATGAAGGTGATCTCGCAGCTGGGCGTCAGCCTG | CA1703612651 | GCK | c.*1282_*1361delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG (n.*1282_*1361delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG) c.*404_*483delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG (n.*404_*483delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG) n.510_589delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG c.318_397delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG (p.Arg106=) c.1287_1366delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG (p.Arg429=) c.1284_1363delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG (p.Arg428=) c.1347_1426delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG (p.Arg449=) n.296_375delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG c.336_415delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG (p.Arg112=) c.1281_1360delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG (p.Arg427=) c.1233_1312delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG (p.Arg411=) n.664_743delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG c.273_352delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG (p.Arg91=) c.144_223delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG (p.Arg48=) | |
| 7 | g.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.44145176G>A | CA213760 | GCK | c.*1356C>T (n.*1356C>T) c.*478C>T (n.*478C>T) n.584C>T c.392C>T (p.Ser131Leu) c.1361C>T (p.Ser454Leu) c.1358C>T (p.Ser453Leu) c.1421C>T (p.Ser474Leu) n.370C>T c.410C>T (p.Ser137Leu) c.1355C>T (p.Ser452Leu) c.1307C>T (p.Ser436Leu) n.738C>T c.347C>T (p.Ser116Leu) c.218C>T (p.Ser73Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44145176G>C | CA367396875 | GCK | c.*1356C>G (n.*1356C>G) c.*478C>G (n.*478C>G) n.584C>G c.392C>G (p.Ser131Trp) c.1361C>G (p.Ser454Trp) c.1358C>G (p.Ser453Trp) c.1421C>G (p.Ser474Trp) n.370C>G c.410C>G (p.Ser137Trp) c.1355C>G (p.Ser452Trp) c.1307C>G (p.Ser436Trp) n.738C>G c.347C>G (p.Ser116Trp) c.218C>G (p.Ser73Trp) | ClinVar |
| 7 | g.44145176G= | CA1703612659 | GCK | c.*1356C= (n.*1356C=) c.*478C= (n.*478C=) n.584C= c.392C= (p.Ser131=) c.1361C= (p.Ser454=) c.1358C= (p.Ser453=) c.1421C= (p.Ser474=) n.370C= c.410C= (p.Ser137=) c.1355C= (p.Ser452=) c.1307C= (p.Ser436=) n.738C= c.347C= (p.Ser116=) c.218C= (p.Ser73=) | |
| 7 | g.44145176G>T | CA367396876 | GCK | c.*1356C>A (n.*1356C>A) c.*478C>A (n.*478C>A) n.584C>A c.392C>A (p.Ser131Ter) c.1361C>A (p.Ser454Ter) c.1358C>A (p.Ser453Ter) c.1421C>A (p.Ser474Ter) n.370C>A c.410C>A (p.Ser137Ter) c.1355C>A (p.Ser452Ter) c.1307C>A (p.Ser436Ter) n.738C>A c.347C>A (p.Ser116Ter) c.218C>A (p.Ser73Ter) | ClinVar gnomAD v4 |
| 7 | g.44145176_44145255delinsTGTAA | CA213742 | GCK | c.*1277_*1356delinsTTACA (n.*1277_*1356delinsTTACA) c.*399_*478delinsTTACA (n.*399_*478delinsTTACA) n.505_584delinsTTACA c.313_392delinsTTACA (p.Val105_Ser131delinsLeuGln) c.1282_1361delinsTTACA (p.Val428_Ser454delinsLeuGln) c.1279_1358delinsTTACA (p.Val427_Ser453delinsLeuGln) c.1342_1421delinsTTACA (p.Val448_Ser474delinsLeuGln) n.291_370delinsTTACA c.331_410delinsTTACA (p.Val111_Ser137delinsLeuGln) c.1276_1355delinsTTACA (p.Val426_Ser452delinsLeuGln) c.1228_1307delinsTTACA (p.Val410_Ser436delinsLeuGln) n.659_738delinsTTACA c.268_347delinsTTACA (p.Val90_Ser116delinsLeuGln) c.139_218delinsTTACA (p.Val47_Ser73delinsLeuGln) | ClinVar dbSNP |
| 7 | g.44145177A>C | CA367396877 | GCK | c.*1355T>G (n.*1355T>G) c.*477T>G (n.*477T>G) n.583T>G c.391T>G (p.Ser131Ala) c.1360T>G (p.Ser454Ala) c.1357T>G (p.Ser453Ala) c.1420T>G (p.Ser474Ala) n.369T>G c.409T>G (p.Ser137Ala) c.1354T>G (p.Ser452Ala) c.1306T>G (p.Ser436Ala) n.737T>G c.346T>G (p.Ser116Ala) c.217T>G (p.Ser73Ala) | |
| 7 | g.44145177A>G | CA367396879 | GCK | c.*1355T>C (n.*1355T>C) c.*477T>C (n.*477T>C) n.583T>C c.391T>C (p.Ser131Pro) c.1360T>C (p.Ser454Pro) c.1357T>C (p.Ser453Pro) c.1420T>C (p.Ser474Pro) n.369T>C c.409T>C (p.Ser137Pro) c.1354T>C (p.Ser452Pro) c.1306T>C (p.Ser436Pro) n.737T>C c.346T>C (p.Ser116Pro) c.217T>C (p.Ser73Pro) | |
| 7 | g.44145177A>T | CA367396880 | GCK | c.*1355T>A (n.*1355T>A) c.*477T>A (n.*477T>A) n.583T>A c.391T>A (p.Ser131Thr) c.1360T>A (p.Ser454Thr) c.1357T>A (p.Ser453Thr) c.1420T>A (p.Ser474Thr) n.369T>A c.409T>A (p.Ser137Thr) c.1354T>A (p.Ser452Thr) c.1306T>A (p.Ser436Thr) n.737T>A c.346T>A (p.Ser116Thr) c.217T>A (p.Ser73Thr) | |
| 7 | g.44145178G>A | CA454606350 | GCK | c.*1354C>T (n.*1354C>T) c.*476C>T (n.*476C>T) n.582C>T c.390C>T (p.Val130=) c.1359C>T (p.Val453=) c.1356C>T (p.Val452=) c.1419C>T (p.Val473=) n.368C>T c.408C>T (p.Val136=) c.1353C>T (p.Val451=) c.1305C>T (p.Val435=) n.736C>T c.345C>T (p.Val115=) c.216C>T (p.Val72=) | |
| 7 | g.44145178G>C | CA454606351 | GCK | c.*1354C>G (n.*1354C>G) c.*476C>G (n.*476C>G) n.582C>G c.390C>G (p.Val130=) c.1359C>G (p.Val453=) c.1356C>G (p.Val452=) c.1419C>G (p.Val473=) n.368C>G c.408C>G (p.Val136=) c.1353C>G (p.Val451=) c.1305C>G (p.Val435=) n.736C>G c.345C>G (p.Val115=) c.216C>G (p.Val72=) | gnomAD v4 |
| 7 | g.44145178G>T | CA454606352 | GCK | c.*1354C>A (n.*1354C>A) c.*476C>A (n.*476C>A) n.582C>A c.390C>A (p.Val130=) c.1359C>A (p.Val453=) c.1356C>A (p.Val452=) c.1419C>A (p.Val473=) n.368C>A c.408C>A (p.Val136=) c.1353C>A (p.Val451=) c.1305C>A (p.Val435=) n.736C>A c.345C>A (p.Val115=) c.216C>A (p.Val72=) | gnomAD v4 |
| 7 | g.44145179A>C | CA367396882 | GCK | c.*1353T>G (n.*1353T>G) c.*475T>G (n.*475T>G) n.581T>G c.389T>G (p.Val130Gly) c.1358T>G (p.Val453Gly) c.1355T>G (p.Val452Gly) c.1418T>G (p.Val473Gly) n.367T>G c.407T>G (p.Val136Gly) c.1352T>G (p.Val451Gly) c.1304T>G (p.Val435Gly) n.735T>G c.344T>G (p.Val115Gly) c.215T>G (p.Val72Gly) | |
| 7 | g.44145179A>G | CA367396885 | GCK | c.*1353T>C (n.*1353T>C) c.*475T>C (n.*475T>C) n.581T>C c.389T>C (p.Val130Ala) c.1358T>C (p.Val453Ala) c.1355T>C (p.Val452Ala) c.1418T>C (p.Val473Ala) n.367T>C c.407T>C (p.Val136Ala) c.1352T>C (p.Val451Ala) c.1304T>C (p.Val435Ala) n.735T>C c.344T>C (p.Val115Ala) c.215T>C (p.Val72Ala) | |
| 7 | g.44145179A>T | CA367396887 | GCK | c.*1353T>A (n.*1353T>A) c.*475T>A (n.*475T>A) n.581T>A c.389T>A (p.Val130Asp) c.1358T>A (p.Val453Asp) c.1355T>A (p.Val452Asp) c.1418T>A (p.Val473Asp) n.367T>A c.407T>A (p.Val136Asp) c.1352T>A (p.Val451Asp) c.1304T>A (p.Val435Asp) n.735T>A c.344T>A (p.Val115Asp) c.215T>A (p.Val72Asp) | |
| 7 | g.44145180C>A | CA367396889 | GCK | c.*1352G>T (n.*1352G>T) c.*474G>T (n.*474G>T) n.580G>T c.388G>T (p.Val130Phe) c.1357G>T (p.Val453Phe) c.1354G>T (p.Val452Phe) c.1417G>T (p.Val473Phe) n.366G>T c.406G>T (p.Val136Phe) c.1351G>T (p.Val451Phe) c.1303G>T (p.Val435Phe) n.734G>T c.343G>T (p.Val115Phe) c.214G>T (p.Val72Phe) | |
| 7 | g.44145180C>G | CA367396891 | GCK | c.*1352G>C (n.*1352G>C) c.*474G>C (n.*474G>C) n.580G>C c.388G>C (p.Val130Leu) c.1357G>C (p.Val453Leu) c.1354G>C (p.Val452Leu) c.1417G>C (p.Val473Leu) n.366G>C c.406G>C (p.Val136Leu) c.1351G>C (p.Val451Leu) c.1303G>C (p.Val435Leu) n.734G>C c.343G>C (p.Val115Leu) c.214G>C (p.Val72Leu) | ClinVar |
| 7 | g.44145180C>T | CA367396892 | GCK | c.*1352G>A (n.*1352G>A) c.*474G>A (n.*474G>A) n.580G>A c.388G>A (p.Val130Ile) c.1357G>A (p.Val453Ile) c.1354G>A (p.Val452Ile) c.1417G>A (p.Val473Ile) n.366G>A c.406G>A (p.Val136Ile) c.1351G>A (p.Val451Ile) c.1303G>A (p.Val435Ile) n.734G>A c.343G>A (p.Val115Ile) c.214G>A (p.Val72Ile) | gnomAD v4 |
| 7 | g.44145181C>A | CA454606353 | GCK | c.*1351G>T (n.*1351G>T) c.*473G>T (n.*473G>T) n.579G>T c.387G>T (p.Leu129=) c.1356G>T (p.Leu452=) c.1353G>T (p.Leu451=) c.1416G>T (p.Leu472=) n.365G>T c.405G>T (p.Leu135=) c.1350G>T (p.Leu450=) c.1302G>T (p.Leu434=) n.733G>T c.342G>T (p.Leu114=) c.213G>T (p.Leu71=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44145181C= | CA1703612660 | GCK | c.*1351G= (n.*1351G=) c.*473G= (n.*473G=) n.579G= c.387G= (p.Leu129=) c.1356G= (p.Leu452=) c.1353G= (p.Leu451=) c.1416G= (p.Leu472=) n.365G= c.405G= (p.Leu135=) c.1350G= (p.Leu450=) c.1302G= (p.Leu434=) n.733G= c.342G= (p.Leu114=) c.213G= (p.Leu71=) | |
| 7 | g.44145181C>G | CA454606354 | GCK | c.*1351G>C (n.*1351G>C) c.*473G>C (n.*473G>C) n.579G>C c.387G>C (p.Leu129=) c.1356G>C (p.Leu452=) c.1353G>C (p.Leu451=) c.1416G>C (p.Leu472=) n.365G>C c.405G>C (p.Leu135=) c.1350G>C (p.Leu450=) c.1302G>C (p.Leu434=) n.733G>C c.342G>C (p.Leu114=) c.213G>C (p.Leu71=) | |
| 7 | g.44145181C>T | CA454606355 | GCK | c.*1351G>A (n.*1351G>A) c.*473G>A (n.*473G>A) n.579G>A c.387G>A (p.Leu129=) c.1356G>A (p.Leu452=) c.1353G>A (p.Leu451=) c.1416G>A (p.Leu472=) n.365G>A c.405G>A (p.Leu135=) c.1350G>A (p.Leu450=) c.1302G>A (p.Leu434=) n.733G>A c.342G>A (p.Leu114=) c.213G>A (p.Leu71=) | |
| 7 | g.44145182del | CA2682580402 | GCK | c.*1350del (n.*1350del) c.*472del (n.*472del) n.578del c.386del (p.Leu129ArgfsTer?) c.1355del (p.Leu452ArgfsTer?) c.1352del (p.Leu451ArgfsTer?) c.1415del (p.Leu472ArgfsTer?) n.364del c.1352del (p.Leu451ArgfsTer13) c.404del (p.Leu135ArgfsTer?) c.1349del (p.Leu450ArgfsTer?) c.1301del (p.Leu434ArgfsTer?) n.732del c.341del (p.Leu114ArgfsTer?) c.212del (p.Leu71ArgfsTer13) c.212del (p.Leu71ArgfsTer?) | gnomAD v4 |
| 7 | g.44145182A>C | CA367396897 | GCK | c.*1350T>G (n.*1350T>G) c.*472T>G (n.*472T>G) n.578T>G c.386T>G (p.Leu129Arg) c.1355T>G (p.Leu452Arg) c.1352T>G (p.Leu451Arg) c.1415T>G (p.Leu472Arg) n.364T>G c.404T>G (p.Leu135Arg) c.1349T>G (p.Leu450Arg) c.1301T>G (p.Leu434Arg) n.732T>G c.341T>G (p.Leu114Arg) c.212T>G (p.Leu71Arg) | |
| 7 | g.44145182A>G | CA367396898 | GCK | c.*1350T>C (n.*1350T>C) c.*472T>C (n.*472T>C) n.578T>C c.386T>C (p.Leu129Pro) c.1355T>C (p.Leu452Pro) c.1352T>C (p.Leu451Pro) c.1415T>C (p.Leu472Pro) n.364T>C c.404T>C (p.Leu135Pro) c.1349T>C (p.Leu450Pro) c.1301T>C (p.Leu434Pro) n.732T>C c.341T>C (p.Leu114Pro) c.212T>C (p.Leu71Pro) | |
| 7 | g.44145182A>T | CA367396895 | GCK | c.*1350T>A (n.*1350T>A) c.*472T>A (n.*472T>A) n.578T>A c.386T>A (p.Leu129Gln) c.1355T>A (p.Leu452Gln) c.1352T>A (p.Leu451Gln) c.1415T>A (p.Leu472Gln) n.364T>A c.404T>A (p.Leu135Gln) c.1349T>A (p.Leu450Gln) c.1301T>A (p.Leu434Gln) n.732T>A c.341T>A (p.Leu114Gln) c.212T>A (p.Leu71Gln) | |
| 7 | g.44145183G>A | CA454606356 | GCK | c.*1349C>T (n.*1349C>T) c.*471C>T (n.*471C>T) n.577C>T c.385C>T (p.Leu129=) c.1354C>T (p.Leu452=) c.1351C>T (p.Leu451=) c.1414C>T (p.Leu472=) n.363C>T c.403C>T (p.Leu135=) c.1348C>T (p.Leu450=) c.1300C>T (p.Leu434=) n.731C>T c.340C>T (p.Leu114=) c.211C>T (p.Leu71=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44145183G>C | CA367396900 | GCK | c.*1349C>G (n.*1349C>G) c.*471C>G (n.*471C>G) n.577C>G c.385C>G (p.Leu129Val) c.1354C>G (p.Leu452Val) c.1351C>G (p.Leu451Val) c.1414C>G (p.Leu472Val) n.363C>G c.403C>G (p.Leu135Val) c.1348C>G (p.Leu450Val) c.1300C>G (p.Leu434Val) n.731C>G c.340C>G (p.Leu114Val) c.211C>G (p.Leu71Val) | |
| 7 | g.44145183G= | CA1703612661 | GCK | c.*1349C= (n.*1349C=) c.*471C= (n.*471C=) n.577C= c.385C= (p.Leu129=) c.1354C= (p.Leu452=) c.1351C= (p.Leu451=) c.1414C= (p.Leu472=) n.363C= c.403C= (p.Leu135=) c.1348C= (p.Leu450=) c.1300C= (p.Leu434=) n.731C= c.340C= (p.Leu114=) c.211C= (p.Leu71=) | |
| 7 | g.44145183G>T | CA367396901 | GCK | c.*1349C>A (n.*1349C>A) c.*471C>A (n.*471C>A) n.577C>A c.385C>A (p.Leu129Met) c.1354C>A (p.Leu452Met) c.1351C>A (p.Leu451Met) c.1414C>A (p.Leu472Met) n.363C>A c.403C>A (p.Leu135Met) c.1348C>A (p.Leu450Met) c.1300C>A (p.Leu434Met) n.731C>A c.340C>A (p.Leu114Met) c.211C>A (p.Leu71Met) | |
| 7 | g.44145185del | CA2017997778 | GCK | c.*1349del (n.*1349del) c.*471del (n.*471del) n.577del c.385del (p.Leu129TrpfsTer?) c.1354del (p.Leu452TrpfsTer?) c.1351del (p.Leu451TrpfsTer?) c.1414del (p.Leu472TrpfsTer?) n.363del c.1351del (p.Leu451TrpfsTer13) c.403del (p.Leu135TrpfsTer?) c.1348del (p.Leu450TrpfsTer?) c.1300del (p.Leu434TrpfsTer?) n.731del c.340del (p.Leu114TrpfsTer?) c.211del (p.Leu71TrpfsTer13) c.211del (p.Leu71TrpfsTer?) | ClinVar |
| 7 | g.44145184G>A | CA454606357 | GCK | c.*1348C>T (n.*1348C>T) c.*470C>T (n.*470C>T) n.576C>T c.384C>T (p.Ala128=) c.1353C>T (p.Ala451=) c.1350C>T (p.Ala450=) c.1413C>T (p.Ala471=) n.362C>T c.402C>T (p.Ala134=) c.1347C>T (p.Ala449=) c.1299C>T (p.Ala433=) n.730C>T c.339C>T (p.Ala113=) c.210C>T (p.Ala70=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.44145184G>C | CA454606358 | GCK | c.*1348C>G (n.*1348C>G) c.*470C>G (n.*470C>G) n.576C>G c.384C>G (p.Ala128=) c.1353C>G (p.Ala451=) c.1350C>G (p.Ala450=) c.1413C>G (p.Ala471=) n.362C>G c.402C>G (p.Ala134=) c.1347C>G (p.Ala449=) c.1299C>G (p.Ala433=) n.730C>G c.339C>G (p.Ala113=) c.210C>G (p.Ala70=) | |
| 7 | g.44145184G= | CA1703612662 | GCK | c.*1348C= (n.*1348C=) c.*470C= (n.*470C=) n.576C= c.384C= (p.Ala128=) c.1353C= (p.Ala451=) c.1350C= (p.Ala450=) c.1413C= (p.Ala471=) n.362C= c.402C= (p.Ala134=) c.1347C= (p.Ala449=) c.1299C= (p.Ala433=) n.730C= c.339C= (p.Ala113=) c.210C= (p.Ala70=) | |
| 7 | g.44145184G>T | CA454606359 | GCK | c.*1348C>A (n.*1348C>A) c.*470C>A (n.*470C>A) n.576C>A c.384C>A (p.Ala128=) c.1353C>A (p.Ala451=) c.1350C>A (p.Ala450=) c.1413C>A (p.Ala471=) n.362C>A c.402C>A (p.Ala134=) c.1347C>A (p.Ala449=) c.1299C>A (p.Ala433=) n.730C>A c.339C>A (p.Ala113=) c.210C>A (p.Ala70=) | |
| 7 | g.44145185G>A | CA367396903 | GCK | c.*1347C>T (n.*1347C>T) c.*469C>T (n.*469C>T) n.575C>T c.383C>T (p.Ala128Val) c.1352C>T (p.Ala451Val) c.1349C>T (p.Ala450Val) c.1412C>T (p.Ala471Val) n.361C>T c.401C>T (p.Ala134Val) c.1346C>T (p.Ala449Val) c.1298C>T (p.Ala433Val) n.729C>T c.338C>T (p.Ala113Val) c.209C>T (p.Ala70Val) | ClinVar |
| 7 | g.44145185G>C | CA367396905 | GCK | c.*1347C>G (n.*1347C>G) c.*469C>G (n.*469C>G) n.575C>G c.383C>G (p.Ala128Gly) c.1352C>G (p.Ala451Gly) c.1349C>G (p.Ala450Gly) c.1412C>G (p.Ala471Gly) n.361C>G c.401C>G (p.Ala134Gly) c.1346C>G (p.Ala449Gly) c.1298C>G (p.Ala433Gly) n.729C>G c.338C>G (p.Ala113Gly) c.209C>G (p.Ala70Gly) | |
| 7 | g.44145185G>T | CA367396907 | GCK | c.*1347C>A (n.*1347C>A) c.*469C>A (n.*469C>A) n.575C>A c.383C>A (p.Ala128Asp) c.1352C>A (p.Ala451Asp) c.1349C>A (p.Ala450Asp) c.1412C>A (p.Ala471Asp) n.361C>A c.401C>A (p.Ala134Asp) c.1346C>A (p.Ala449Asp) c.1298C>A (p.Ala433Asp) n.729C>A c.338C>A (p.Ala113Asp) c.209C>A (p.Ala70Asp) | |
| 7 | g.44145186C>A | CA367396909 | GCK | c.*1346G>T (n.*1346G>T) c.*468G>T (n.*468G>T) n.574G>T c.382G>T (p.Ala128Ser) c.1351G>T (p.Ala451Ser) c.1348G>T (p.Ala450Ser) c.1411G>T (p.Ala471Ser) n.360G>T c.400G>T (p.Ala134Ser) c.1345G>T (p.Ala449Ser) c.1297G>T (p.Ala433Ser) n.728G>T c.337G>T (p.Ala113Ser) c.208G>T (p.Ala70Ser) | ClinVar |
| 7 | g.44145186C>G | CA367396911 | GCK | c.*1346G>C (n.*1346G>C) c.*468G>C (n.*468G>C) n.574G>C c.382G>C (p.Ala128Pro) c.1351G>C (p.Ala451Pro) c.1348G>C (p.Ala450Pro) c.1411G>C (p.Ala471Pro) n.360G>C c.400G>C (p.Ala134Pro) c.1345G>C (p.Ala449Pro) c.1297G>C (p.Ala433Pro) n.728G>C c.337G>C (p.Ala113Pro) c.208G>C (p.Ala70Pro) |