| 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.44145149_44145161del | CA2695202946 | GCK | c.*1371_*1383del (n.*1371_*1383del) c.*493_*505del (n.*493_*505del) n.599_611del c.407_419del (p.Lys136SerfsTer?) c.1376_1388del (p.Lys459SerfsTer?) c.1373_1385del (p.Lys458SerfsTer?) c.1436_1448del (p.Lys479SerfsTer?) n.381+4_381+16del c.1369+4_1369+16del (n.1369+4_1369+16del) c.425_437del (p.Lys142SerfsTer?) c.1370_1382del (p.Lys457SerfsTer?) c.1322_1334del (p.Lys441SerfsTer?) n.753_765del c.362_374del (p.Lys121SerfsTer?) c.229+4_229+16del (n.229+4_229+16del) c.233_245del (p.Lys78SerfsTer?) | |
| 7 | g.44145158_44145169del | CA2017997780 | GCK | c.*1371_*1382del (n.*1371_*1382del) c.*493_*504del (n.*493_*504del) n.599_610del c.407_418del (p.Lys136_Cys139del) c.1376_1387del (p.Lys459_Cys462del) c.1373_1384del (p.Lys458_Cys461del) c.1436_1447del (p.Lys479_Cys482del) n.381+4_381+15del c.1369+4_1369+15del c.425_436del (p.Lys142_Cys145del) c.1370_1381del (p.Lys457_Cys460del) c.1322_1333del (p.Lys441_Cys444del) n.753_764del c.362_373del (p.Lys121_Cys124del) c.229+4_229+15del c.233_244del (p.Lys78_Cys81del) | ClinVar |
| 7 | g.44145159_44145162del | CA2573102979 | GCK | c.*1371_*1374del (n.*1371_*1374del) c.*493_*496del (n.*493_*496del) n.599_602del c.407_410del (p.Lys136ArgfsTer?) c.1376_1379del (p.Lys459ArgfsTer?) c.1373_1376del (p.Lys458ArgfsTer?) c.1436_1439del (p.Lys479ArgfsTer?) n.381+4_381+7del c.1369+4_1369+7del (n.1369+4_1369+7del) c.425_428del (p.Lys142ArgfsTer?) c.1370_1373del (p.Lys457ArgfsTer?) c.1322_1325del (p.Lys441ArgfsTer?) n.753_756del c.362_365del (p.Lys121ArgfsTer?) c.229+4_229+7del (n.229+4_229+7del) c.233_236del (p.Lys78ArgfsTer?) | ClinVar |
| 7 | g.44145160_44145162delinsCTT | CA1703612645 | GCK | c.*1370_*1372delinsAAG (n.*1370_*1372delinsAAG) c.*492_*494delinsAAG (n.*492_*494delinsAAG) n.598_600delinsAAG c.406_408delinsAAG (p.Lys136=) c.1375_1377delinsAAG (p.Lys459=) c.1372_1374delinsAAG (p.Lys458=) c.1435_1437delinsAAG (p.Lys479=) n.381+3_381+5delinsAAG c.1369+3_1369+5delinsAAG (n.1369+3_1369+5delinsAAG) c.424_426delinsAAG (p.Lys142=) c.1369_1371delinsAAG (p.Lys457=) c.1321_1323delinsAAG (p.Lys441=) n.752_754delinsAAG c.361_363delinsAAG (p.Lys121=) c.229+3_229+5delinsAAG (n.229+3_229+5delinsAAG) c.232_234delinsAAG (p.Lys78=) | |
| 7 | g.44145161T>A | CA367396822 | GCK | c.*1371A>T (n.*1371A>T) c.*493A>T (n.*493A>T) n.599A>T c.407A>T (p.Lys136Met) c.1376A>T (p.Lys459Met) c.1373A>T (p.Lys458Met) c.1436A>T (p.Lys479Met) n.381+4A>T c.1369+4A>T (n.1369+4A>T) c.425A>T (p.Lys142Met) c.1370A>T (p.Lys457Met) c.1322A>T (p.Lys441Met) n.753A>T c.362A>T (p.Lys121Met) c.229+4A>T (n.229+4A>T) c.233A>T (p.Lys78Met) | |
| 7 | g.44145161T>C | CA367396818 | GCK | c.*1371A>G (n.*1371A>G) c.*493A>G (n.*493A>G) n.599A>G c.407A>G (p.Lys136Arg) c.1376A>G (p.Lys459Arg) c.1373A>G (p.Lys458Arg) c.1436A>G (p.Lys479Arg) n.381+4A>G c.1369+4A>G (n.1369+4A>G) c.425A>G (p.Lys142Arg) c.1370A>G (p.Lys457Arg) c.1322A>G (p.Lys441Arg) n.753A>G c.362A>G (p.Lys121Arg) c.229+4A>G (n.229+4A>G) c.233A>G (p.Lys78Arg) | gnomAD v4 |
| 7 | g.44145161T>G | CA367396820 | GCK | c.*1371A>C (n.*1371A>C) c.*493A>C (n.*493A>C) n.599A>C c.407A>C (p.Lys136Thr) c.1376A>C (p.Lys459Thr) c.1373A>C (p.Lys458Thr) c.1436A>C (p.Lys479Thr) n.381+4A>C c.1369+4A>C (n.1369+4A>C) c.425A>C (p.Lys142Thr) c.1370A>C (p.Lys457Thr) c.1322A>C (p.Lys441Thr) n.753A>C c.362A>C (p.Lys121Thr) c.229+4A>C (n.229+4A>C) c.233A>C (p.Lys78Thr) | |
| 7 | g.44145161_44145162del | CA213762 | GCK | c.*1370_*1371del (n.*1370_*1371del) c.*492_*493del (n.*492_*493del) n.598_599del c.406_407del (p.Lys136GlufsTer?) c.1375_1376del (p.Lys459GlufsTer?) c.1372_1373del (p.Lys458GlufsTer?) c.1435_1436del (p.Lys479GlufsTer?) n.381+3_381+4del c.1369+3_1369+4del (n.1369+3_1369+4del) c.424_425del (p.Lys142GlufsTer?) c.1369_1370del (p.Lys457GlufsTer?) c.1321_1322del (p.Lys441GlufsTer?) n.752_753del c.361_362del (p.Lys121GlufsTer?) c.229+3_229+4del (n.229+3_229+4del) c.232_233del (p.Lys78GlufsTer?) | ClinVar dbSNP |
| 7 | g.44145162del | CA2714458558 | GCK | c.*1371del (n.*1371del) c.*493del (n.*493del) n.599del c.407del (p.Lys136ArgfsTer?) c.1376del (p.Lys459ArgfsTer?) c.1373del (p.Lys458ArgfsTer?) c.1436del (p.Lys479ArgfsTer?) n.381+4del c.1369+4del (n.1369+4del) c.425del (p.Lys142ArgfsTer?) c.1370del (p.Lys457ArgfsTer?) c.1322del (p.Lys441ArgfsTer?) n.753del c.362del (p.Lys121ArgfsTer?) c.229+4del (n.229+4del) c.233del (p.Lys78ArgfsTer?) | dbSNP |
| 7 | g.44145162T>A | CA367396824 | GCK | c.*1370A>T (n.*1370A>T) c.*492A>T (n.*492A>T) n.598A>T c.406A>T (p.Lys136Ter) c.1375A>T (p.Lys459Ter) c.1372A>T (p.Lys458Ter) c.1435A>T (p.Lys479Ter) n.381+3A>T c.1369+3A>T (n.1369+3A>T) c.424A>T (p.Lys142Ter) c.1369A>T (p.Lys457Ter) c.1321A>T (p.Lys441Ter) n.752A>T c.361A>T (p.Lys121Ter) c.229+3A>T (n.229+3A>T) c.232A>T (p.Lys78Ter) | |
| 7 | g.44145162T>C | CA367396825 | GCK | c.*1370A>G (n.*1370A>G) c.*492A>G (n.*492A>G) n.598A>G c.406A>G (p.Lys136Glu) c.1375A>G (p.Lys459Glu) c.1372A>G (p.Lys458Glu) c.1435A>G (p.Lys479Glu) n.381+3A>G c.1369+3A>G (n.1369+3A>G) c.424A>G (p.Lys142Glu) c.1369A>G (p.Lys457Glu) c.1321A>G (p.Lys441Glu) n.752A>G c.361A>G (p.Lys121Glu) c.229+3A>G (n.229+3A>G) c.232A>G (p.Lys78Glu) | gnomAD v4 |
| 7 | g.44145162T>G | CA367396827 | GCK | c.*1370A>C (n.*1370A>C) c.*492A>C (n.*492A>C) n.598A>C c.406A>C (p.Lys136Gln) c.1375A>C (p.Lys459Gln) c.1372A>C (p.Lys458Gln) c.1435A>C (p.Lys479Gln) n.381+3A>C c.1369+3A>C (n.1369+3A>C) c.424A>C (p.Lys142Gln) c.1369A>C (p.Lys457Gln) c.1321A>C (p.Lys441Gln) n.752A>C c.361A>C (p.Lys121Gln) c.229+3A>C (n.229+3A>C) c.232A>C (p.Lys78Gln) | |
| 7 | g.44145163A>C | CA367396829 | GCK | c.*1369T>G (n.*1369T>G) c.*491T>G (n.*491T>G) n.597T>G c.405T>G (p.Cys135Trp) c.1374T>G (p.Cys458Trp) c.1371T>G (p.Cys457Trp) c.1434T>G (p.Cys478Trp) n.381+2T>G c.1369+2T>G (n.1369+2T>G) c.423T>G (p.Cys141Trp) c.1368T>G (p.Cys456Trp) c.1320T>G (p.Cys440Trp) n.751T>G c.360T>G (p.Cys120Trp) c.229+2T>G (n.229+2T>G) c.231T>G (p.Cys77Trp) | |
| 7 | g.44145163A>G | CA454606339 | GCK | c.*1369T>C (n.*1369T>C) c.*491T>C (n.*491T>C) n.597T>C c.405T>C (p.Cys135=) c.1374T>C (p.Cys458=) c.1371T>C (p.Cys457=) c.1434T>C (p.Cys478=) n.381+2T>C c.1369+2T>C (n.1369+2T>C) c.423T>C (p.Cys141=) c.1368T>C (p.Cys456=) c.1320T>C (p.Cys440=) n.751T>C c.360T>C (p.Cys120=) c.229+2T>C (n.229+2T>C) c.231T>C (p.Cys77=) | |
| 7 | g.44145163A>T | CA367396830 | GCK | c.*1369T>A (n.*1369T>A) c.*491T>A (n.*491T>A) n.597T>A c.405T>A (p.Cys135Ter) c.1374T>A (p.Cys458Ter) c.1371T>A (p.Cys457Ter) c.1434T>A (p.Cys478Ter) n.381+2T>A c.1369+2T>A (n.1369+2T>A) c.423T>A (p.Cys141Ter) c.1368T>A (p.Cys456Ter) c.1320T>A (p.Cys440Ter) n.751T>A c.360T>A (p.Cys120Ter) c.229+2T>A (n.229+2T>A) c.231T>A (p.Cys77Ter) | |
| 7 | g.44145164C>A | CA367396832 | GCK | c.*1368G>T (n.*1368G>T) c.*490G>T (n.*490G>T) n.596G>T c.404G>T (p.Cys135Phe) c.1373G>T (p.Cys458Phe) c.1370G>T (p.Cys457Phe) c.1433G>T (p.Cys478Phe) n.381+1G>T c.1369+1G>T (n.1369+1G>T) c.422G>T (p.Cys141Phe) c.1367G>T (p.Cys456Phe) c.1319G>T (p.Cys440Phe) n.750G>T c.359G>T (p.Cys120Phe) c.229+1G>T (n.229+1G>T) c.230G>T (p.Cys77Phe) | |
| 7 | g.44145164C>G | CA367396834 | GCK | c.*1368G>C (n.*1368G>C) c.*490G>C (n.*490G>C) n.596G>C c.404G>C (p.Cys135Ser) c.1373G>C (p.Cys458Ser) c.1370G>C (p.Cys457Ser) c.1433G>C (p.Cys478Ser) n.381+1G>C c.1369+1G>C (n.1369+1G>C) c.422G>C (p.Cys141Ser) c.1367G>C (p.Cys456Ser) c.1319G>C (p.Cys440Ser) n.750G>C c.359G>C (p.Cys120Ser) c.229+1G>C (n.229+1G>C) c.230G>C (p.Cys77Ser) | gnomAD v4 |
| 7 | g.44145164C>T | CA367396836 | GCK | c.*1368G>A (n.*1368G>A) c.*490G>A (n.*490G>A) n.596G>A c.404G>A (p.Cys135Tyr) c.1373G>A (p.Cys458Tyr) c.1370G>A (p.Cys457Tyr) c.1433G>A (p.Cys478Tyr) n.381+1G>A c.1369+1G>A (n.1369+1G>A) c.422G>A (p.Cys141Tyr) c.1367G>A (p.Cys456Tyr) c.1319G>A (p.Cys440Tyr) n.750G>A c.359G>A (p.Cys120Tyr) c.229+1G>A (n.229+1G>A) c.230G>A (p.Cys77Tyr) | gnomAD v4 |
| 7 | g.44145165A= | CA1703612646 | GCK | c.*1367T= (n.*1367T=) c.*489T= (n.*489T=) n.595T= c.403T= (p.Cys135=) c.1372T= (p.Cys458=) c.1369T= (p.Cys457=) c.1432T= (p.Cys478=) n.381T= c.1369T= (p.Ter457=) c.421T= (p.Cys141=) c.1366T= (p.Cys456=) c.1318T= (p.Cys440=) n.749T= c.358T= (p.Cys120=) c.229T= (p.Ter77=) c.229T= (p.Cys77=) | |
| 7 | g.44145165A>C | CA367396838 | GCK | c.*1367T>G (n.*1367T>G) c.*489T>G (n.*489T>G) n.595T>G c.403T>G (p.Cys135Gly) c.1372T>G (p.Cys458Gly) c.1369T>G (p.Cys457Gly) c.1432T>G (p.Cys478Gly) n.381T>G c.1369T>G (p.Ter457Gly) c.421T>G (p.Cys141Gly) c.1366T>G (p.Cys456Gly) c.1318T>G (p.Cys440Gly) n.749T>G c.358T>G (p.Cys120Gly) c.229T>G (p.Ter77Gly) c.229T>G (p.Cys77Gly) | |
| 7 | g.44145165A>G | CA367396839 | GCK | c.*1367T>C (n.*1367T>C) c.*489T>C (n.*489T>C) n.595T>C c.403T>C (p.Cys135Arg) c.1372T>C (p.Cys458Arg) c.1369T>C (p.Cys457Arg) c.1432T>C (p.Cys478Arg) n.381T>C c.1369T>C (p.Ter457Arg) c.421T>C (p.Cys141Arg) c.1366T>C (p.Cys456Arg) c.1318T>C (p.Cys440Arg) n.749T>C c.358T>C (p.Cys120Arg) c.229T>C (p.Ter77Arg) c.229T>C (p.Cys77Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44145165A>T | CA367396845 | GCK | c.*1367T>A (n.*1367T>A) c.*489T>A (n.*489T>A) n.595T>A c.403T>A (p.Cys135Ser) c.1372T>A (p.Cys458Ser) c.1369T>A (p.Cys457Ser) c.1432T>A (p.Cys478Ser) n.381T>A c.1369T>A (p.Ter457Arg) c.421T>A (p.Cys141Ser) c.1366T>A (p.Cys456Ser) c.1318T>A (p.Cys440Ser) n.749T>A c.358T>A (p.Cys120Ser) c.229T>A (p.Ter77Arg) c.229T>A (p.Cys77Ser) | |
| 7 | g.44145165_44145194delinsAGGCCACCGCCGAGACCAGGGCCGCGCCCC | CA1703612647 | GCK | c.*1338_*1367delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT (n.*1338_*1367delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT) c.*460_*489delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT (n.*460_*489delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT) n.566_595delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT c.374_403delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT (p.Arg125=) c.1343_1372delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT (p.Arg448=) c.1340_1369delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT (p.Arg447=) c.1403_1432delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT (p.Arg468=) n.352_381delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT c.392_421delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT (p.Arg131=) c.1337_1366delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT (p.Arg446=) c.1289_1318delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT (p.Arg430=) n.720_749delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT c.329_358delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT (p.Arg110=) c.200_229delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT (p.Arg67=) | |
| 7 | g.44145166G>A | CA454606340 | GCK | c.*1366C>T (n.*1366C>T) c.*488C>T (n.*488C>T) n.594C>T c.402C>T (p.Ala134=) c.1371C>T (p.Ala457=) c.1368C>T (p.Ala456=) c.1431C>T (p.Ala477=) n.380C>T c.420C>T (p.Ala140=) c.1365C>T (p.Ala455=) c.1317C>T (p.Ala439=) n.748C>T c.357C>T (p.Ala119=) c.228C>T (p.Ala76=) | |
| 7 | g.44145166G>C | CA454606341 | GCK | c.*1366C>G (n.*1366C>G) c.*488C>G (n.*488C>G) n.594C>G c.402C>G (p.Ala134=) c.1371C>G (p.Ala457=) c.1368C>G (p.Ala456=) c.1431C>G (p.Ala477=) n.380C>G c.420C>G (p.Ala140=) c.1365C>G (p.Ala455=) c.1317C>G (p.Ala439=) n.748C>G c.357C>G (p.Ala119=) c.228C>G (p.Ala76=) | |
| 7 | g.44145166G>T | CA454606342 | GCK | c.*1366C>A (n.*1366C>A) c.*488C>A (n.*488C>A) n.594C>A c.402C>A (p.Ala134=) c.1371C>A (p.Ala457=) c.1368C>A (p.Ala456=) c.1431C>A (p.Ala477=) n.380C>A c.420C>A (p.Ala140=) c.1365C>A (p.Ala455=) c.1317C>A (p.Ala439=) n.748C>A c.357C>A (p.Ala119=) c.228C>A (p.Ala76=) | gnomAD v4 |
| 7 | g.44145167del | CA2017997779 | GCK | c.*1366del (n.*1366del) c.*488del (n.*488del) n.594del c.402del (p.Cys135ValfsTer?) c.1371del (p.Cys458ValfsTer?) c.1368del (p.Cys457ValfsTer?) c.1431del (p.Cys478ValfsTer?) n.380del c.1368del (p.Ter457AspextTer7) c.420del (p.Cys141ValfsTer?) c.1365del (p.Cys456ValfsTer?) c.1317del (p.Cys440ValfsTer?) n.748del c.357del (p.Cys120ValfsTer?) c.228del (p.Ter77AspextTer7) c.228del (p.Cys77ValfsTer?) | ClinVar |
| 7 | g.44145172_44145200del | CA838788768 | GCK | c.*1338_*1366del (n.*1338_*1366del) c.*460_*488del (n.*460_*488del) n.566_594del c.374_402del (p.Arg125LeufsTer2) c.1343_1371del (p.Arg448LeufsTer2) c.1340_1368del (p.Arg447LeufsTer2) c.1403_1431del (p.Arg468LeufsTer2) n.352_380del c.1340_1368del (p.Arg447LeufsTer15) c.392_420del (p.Arg131LeufsTer2) c.1337_1365del (p.Arg446LeufsTer2) c.1289_1317del (p.Arg430LeufsTer2) n.720_748del c.329_357del (p.Arg110LeufsTer2) c.200_228del (p.Arg67LeufsTer15) c.200_228del (p.Arg67LeufsTer2) | ClinVar dbSNP |
| 7 | g.44145167G>A | CA257433 | GCK | c.*1365C>T (n.*1365C>T) c.*487C>T (n.*487C>T) n.593C>T c.401C>T (p.Ala134Val) c.1370C>T (p.Ala457Val) c.1367C>T (p.Ala456Val) c.1430C>T (p.Ala477Val) n.379C>T c.419C>T (p.Ala140Val) c.1364C>T (p.Ala455Val) c.1316C>T (p.Ala439Val) n.747C>T c.356C>T (p.Ala119Val) c.227C>T (p.Ala76Val) | ClinVar dbSNP |
| 7 | g.44145167G>C | CA367396849 | GCK | c.*1365C>G (n.*1365C>G) c.*487C>G (n.*487C>G) n.593C>G c.401C>G (p.Ala134Gly) c.1370C>G (p.Ala457Gly) c.1367C>G (p.Ala456Gly) c.1430C>G (p.Ala477Gly) n.379C>G c.419C>G (p.Ala140Gly) c.1364C>G (p.Ala455Gly) c.1316C>G (p.Ala439Gly) n.747C>G c.356C>G (p.Ala119Gly) c.227C>G (p.Ala76Gly) | |
| 7 | g.44145167G= | CA1703612648 | GCK | c.*1365C= (n.*1365C=) c.*487C= (n.*487C=) n.593C= c.401C= (p.Ala134=) c.1370C= (p.Ala457=) c.1367C= (p.Ala456=) c.1430C= (p.Ala477=) n.379C= c.419C= (p.Ala140=) c.1364C= (p.Ala455=) c.1316C= (p.Ala439=) n.747C= c.356C= (p.Ala119=) c.227C= (p.Ala76=) | |
| 7 | g.44145167G>T | CA367396848 | GCK | c.*1365C>A (n.*1365C>A) c.*487C>A (n.*487C>A) n.593C>A c.401C>A (p.Ala134Asp) c.1370C>A (p.Ala457Asp) c.1367C>A (p.Ala456Asp) c.1430C>A (p.Ala477Asp) n.379C>A c.419C>A (p.Ala140Asp) c.1364C>A (p.Ala455Asp) c.1316C>A (p.Ala439Asp) n.747C>A c.356C>A (p.Ala119Asp) c.227C>A (p.Ala76Asp) | gnomAD v4 |
| 7 | g.44145170_44145588del | CA2573142177 | GCK | c.*1163_*1365del c.*285_*487del n.391_593del c.199_401del c.1168_1370del c.1165_1367del c.1228_1430del n.177_379del c.217_419del c.1162_1364del c.1114_1316del n.545_747del c.154_356del c.25_227del | ClinVar |
| 7 | g.44145168C>A | CA367396850 | GCK | c.*1364G>T (n.*1364G>T) c.*486G>T (n.*486G>T) n.592G>T c.400G>T (p.Ala134Ser) c.1369G>T (p.Ala457Ser) c.1366G>T (p.Ala456Ser) c.1429G>T (p.Ala477Ser) n.378G>T c.418G>T (p.Ala140Ser) c.1363G>T (p.Ala455Ser) c.1315G>T (p.Ala439Ser) n.746G>T c.355G>T (p.Ala119Ser) c.226G>T (p.Ala76Ser) | |
| 7 | g.44145168C>G | CA367396852 | GCK | c.*1364G>C (n.*1364G>C) c.*486G>C (n.*486G>C) n.592G>C c.400G>C (p.Ala134Pro) c.1369G>C (p.Ala457Pro) c.1366G>C (p.Ala456Pro) c.1429G>C (p.Ala477Pro) n.378G>C c.418G>C (p.Ala140Pro) c.1363G>C (p.Ala455Pro) c.1315G>C (p.Ala439Pro) n.746G>C c.355G>C (p.Ala119Pro) c.226G>C (p.Ala76Pro) | |
| 7 | g.44145168C>T | CA367396853 | GCK | c.*1364G>A (n.*1364G>A) c.*486G>A (n.*486G>A) n.592G>A c.400G>A (p.Ala134Thr) c.1369G>A (p.Ala457Thr) c.1366G>A (p.Ala456Thr) c.1429G>A (p.Ala477Thr) n.378G>A c.418G>A (p.Ala140Thr) c.1363G>A (p.Ala455Thr) c.1315G>A (p.Ala439Thr) n.746G>A c.355G>A (p.Ala119Thr) c.226G>A (p.Ala76Thr) | gnomAD v4 |
| 7 | g.44145169C>A | CA454606343 | GCK | c.*1363G>T (n.*1363G>T) c.*485G>T (n.*485G>T) n.591G>T c.399G>T (p.Val133=) c.1368G>T (p.Val456=) c.1365G>T (p.Val455=) c.1428G>T (p.Val476=) n.377G>T c.417G>T (p.Val139=) c.1362G>T (p.Val454=) c.1314G>T (p.Val438=) n.745G>T c.354G>T (p.Val118=) c.225G>T (p.Val75=) | |
| 7 | g.44145169C= | CA1703612649 | GCK | c.*1363G= (n.*1363G=) c.*485G= (n.*485G=) n.591G= c.399G= (p.Val133=) c.1368G= (p.Val456=) c.1365G= (p.Val455=) c.1428G= (p.Val476=) n.377G= c.417G= (p.Val139=) c.1362G= (p.Val454=) c.1314G= (p.Val438=) n.745G= c.354G= (p.Val118=) c.225G= (p.Val75=) | |
| 7 | g.44145169C>G | CA454606344 | GCK | c.*1363G>C (n.*1363G>C) c.*485G>C (n.*485G>C) n.591G>C c.399G>C (p.Val133=) c.1368G>C (p.Val456=) c.1365G>C (p.Val455=) c.1428G>C (p.Val476=) n.377G>C c.417G>C (p.Val139=) c.1362G>C (p.Val454=) c.1314G>C (p.Val438=) n.745G>C c.354G>C (p.Val118=) c.225G>C (p.Val75=) | |
| 7 | g.44145169C>T | CA454606345 | GCK | c.*1363G>A (n.*1363G>A) c.*485G>A (n.*485G>A) n.591G>A c.399G>A (p.Val133=) c.1368G>A (p.Val456=) c.1365G>A (p.Val455=) c.1428G>A (p.Val476=) n.377G>A c.417G>A (p.Val139=) c.1362G>A (p.Val454=) c.1314G>A (p.Val438=) n.745G>A c.354G>A (p.Val118=) c.225G>A (p.Val75=) | dbSNP |
| 7 | g.44145170A= | CA1703612650 | GCK | c.*1362T= (n.*1362T=) c.*484T= (n.*484T=) n.590T= c.398T= (p.Val133=) c.1367T= (p.Val456=) c.1364T= (p.Val455=) c.1427T= (p.Val476=) n.376T= c.416T= (p.Val139=) c.1361T= (p.Val454=) c.1313T= (p.Val438=) n.744T= c.353T= (p.Val118=) c.224T= (p.Val75=) | |
| 7 | g.44145170A>C | CA367396854 | GCK | c.*1362T>G (n.*1362T>G) c.*484T>G (n.*484T>G) n.590T>G c.398T>G (p.Val133Gly) c.1367T>G (p.Val456Gly) c.1364T>G (p.Val455Gly) c.1427T>G (p.Val476Gly) n.376T>G c.416T>G (p.Val139Gly) c.1361T>G (p.Val454Gly) c.1313T>G (p.Val438Gly) n.744T>G c.353T>G (p.Val118Gly) c.224T>G (p.Val75Gly) | dbSNP |
| 7 | g.44145170A>G | CA367396855 | GCK | c.*1362T>C (n.*1362T>C) c.*484T>C (n.*484T>C) n.590T>C c.398T>C (p.Val133Ala) c.1367T>C (p.Val456Ala) c.1364T>C (p.Val455Ala) c.1427T>C (p.Val476Ala) n.376T>C c.416T>C (p.Val139Ala) c.1361T>C (p.Val454Ala) c.1313T>C (p.Val438Ala) n.744T>C c.353T>C (p.Val118Ala) c.224T>C (p.Val75Ala) | gnomAD v4 |
| 7 | g.44145170A>T | CA4239373 | GCK | c.*1362T>A (n.*1362T>A) c.*484T>A (n.*484T>A) n.590T>A c.398T>A (p.Val133Glu) c.1367T>A (p.Val456Glu) c.1364T>A (p.Val455Glu) c.1427T>A (p.Val476Glu) n.376T>A c.416T>A (p.Val139Glu) c.1361T>A (p.Val454Glu) c.1313T>A (p.Val438Glu) n.744T>A c.353T>A (p.Val118Glu) c.224T>A (p.Val75Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44145171C>A | CA367396857 | GCK | c.*1361G>T (n.*1361G>T) c.*483G>T (n.*483G>T) n.589G>T c.397G>T (p.Val133Leu) c.1366G>T (p.Val456Leu) c.1363G>T (p.Val455Leu) c.1426G>T (p.Val476Leu) n.375G>T c.415G>T (p.Val139Leu) c.1360G>T (p.Val454Leu) c.1312G>T (p.Val438Leu) n.743G>T c.352G>T (p.Val118Leu) c.223G>T (p.Val75Leu) | |
| 7 | g.44145171C= | CA1703612652 | GCK | c.*1361G= (n.*1361G=) c.*483G= (n.*483G=) n.589G= c.397G= (p.Val133=) c.1366G= (p.Val456=) c.1363G= (p.Val455=) c.1426G= (p.Val476=) n.375G= c.415G= (p.Val139=) c.1360G= (p.Val454=) c.1312G= (p.Val438=) n.743G= c.352G= (p.Val118=) c.223G= (p.Val75=) | |
| 7 | g.44145171C>G | CA367396858 | GCK | c.*1361G>C (n.*1361G>C) c.*483G>C (n.*483G>C) n.589G>C c.397G>C (p.Val133Leu) c.1366G>C (p.Val456Leu) c.1363G>C (p.Val455Leu) c.1426G>C (p.Val476Leu) n.375G>C c.415G>C (p.Val139Leu) c.1360G>C (p.Val454Leu) c.1312G>C (p.Val438Leu) n.743G>C c.352G>C (p.Val118Leu) c.223G>C (p.Val75Leu) | |
| 7 | g.44145171C>T | CA257432 | GCK | c.*1361G>A (n.*1361G>A) c.*483G>A (n.*483G>A) n.589G>A c.397G>A (p.Val133Met) c.1366G>A (p.Val456Met) c.1363G>A (p.Val455Met) c.1426G>A (p.Val476Met) n.375G>A c.415G>A (p.Val139Met) c.1360G>A (p.Val454Met) c.1312G>A (p.Val438Met) n.743G>A c.352G>A (p.Val118Met) c.223G>A (p.Val75Met) | ClinVar dbSNP gnomAD v4 |
| 7 | g.44145172_44145173insCCCC | CA157911785 | GCK | c.*1361_*1362insGGGG (n.*1361_*1362insGGGG) c.*483_*484insGGGG (n.*483_*484insGGGG) n.589_590insGGGG c.397_398insGGGG (p.Val133GlyfsTer5) c.1366_1367insGGGG (p.Val456GlyfsTer5) c.1363_1364insGGGG (p.Val455GlyfsTer5) c.1426_1427insGGGG (p.Val476GlyfsTer5) n.375_376insGGGG c.1363_1364insGGGG (p.Val455GlyfsTer18) c.415_416insGGGG (p.Val139GlyfsTer5) c.1360_1361insGGGG (p.Val454GlyfsTer5) c.1312_1313insGGGG (p.Val438GlyfsTer5) n.743_744insGGGG c.352_353insGGGG (p.Val118GlyfsTer5) c.223_224insGGGG (p.Val75GlyfsTer18) c.223_224insGGGG (p.Val75GlyfsTer5) | dbSNP |