UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.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.44145165_44145194delinsAGGCCACCGCCGAGACCAGGGCCGCGCCCC | CA1703612647 | GCK | c.*1338_*1367delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT (n.*1338_*1367delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT) c.*460_*489delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT (n.*460_*489delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT) n.566_595delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT c.374_403delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT (p.Arg125=) c.1343_1372delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT (p.Arg448=) c.1340_1369delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT (p.Arg447=) c.1403_1432delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT (p.Arg468=) n.352_381delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT c.392_421delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT (p.Arg131=) c.1337_1366delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT (p.Arg446=) c.1289_1318delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT (p.Arg430=) n.720_749delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT c.329_358delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT (p.Arg110=) c.200_229delinsGGGGCGCGGCCCTGGTCTCGGCGGTGGCCT (p.Arg67=) | |
| 7 | g.44145166G>A | CA454606340 | GCK | c.*1366C>T (n.*1366C>T) c.*488C>T (n.*488C>T) n.594C>T c.402C>T (p.Ala134=) c.1371C>T (p.Ala457=) c.1368C>T (p.Ala456=) c.1431C>T (p.Ala477=) n.380C>T c.420C>T (p.Ala140=) c.1365C>T (p.Ala455=) c.1317C>T (p.Ala439=) n.748C>T c.357C>T (p.Ala119=) c.228C>T (p.Ala76=) | |
| 7 | g.44145166G>C | CA454606341 | GCK | c.*1366C>G (n.*1366C>G) c.*488C>G (n.*488C>G) n.594C>G c.402C>G (p.Ala134=) c.1371C>G (p.Ala457=) c.1368C>G (p.Ala456=) c.1431C>G (p.Ala477=) n.380C>G c.420C>G (p.Ala140=) c.1365C>G (p.Ala455=) c.1317C>G (p.Ala439=) n.748C>G c.357C>G (p.Ala119=) c.228C>G (p.Ala76=) | |
| 7 | g.44145166G>T | CA454606342 | GCK | c.*1366C>A (n.*1366C>A) c.*488C>A (n.*488C>A) n.594C>A c.402C>A (p.Ala134=) c.1371C>A (p.Ala457=) c.1368C>A (p.Ala456=) c.1431C>A (p.Ala477=) n.380C>A c.420C>A (p.Ala140=) c.1365C>A (p.Ala455=) c.1317C>A (p.Ala439=) n.748C>A c.357C>A (p.Ala119=) c.228C>A (p.Ala76=) | gnomAD v4 |
| 7 | g.44145167del | CA2017997779 | GCK | c.*1366del (n.*1366del) c.*488del (n.*488del) n.594del c.402del (p.Cys135ValfsTer?) c.1371del (p.Cys458ValfsTer?) c.1368del (p.Cys457ValfsTer?) c.1431del (p.Cys478ValfsTer?) n.380del c.1368del (p.Ter457AspextTer7) c.420del (p.Cys141ValfsTer?) c.1365del (p.Cys456ValfsTer?) c.1317del (p.Cys440ValfsTer?) n.748del c.357del (p.Cys120ValfsTer?) c.228del (p.Ter77AspextTer7) c.228del (p.Cys77ValfsTer?) | ClinVar |
| 7 | g.44145172_44145200del | CA838788768 | GCK | c.*1338_*1366del (n.*1338_*1366del) c.*460_*488del (n.*460_*488del) n.566_594del c.374_402del (p.Arg125LeufsTer2) c.1343_1371del (p.Arg448LeufsTer2) c.1340_1368del (p.Arg447LeufsTer2) c.1403_1431del (p.Arg468LeufsTer2) n.352_380del c.1340_1368del (p.Arg447LeufsTer15) c.392_420del (p.Arg131LeufsTer2) c.1337_1365del (p.Arg446LeufsTer2) c.1289_1317del (p.Arg430LeufsTer2) n.720_748del c.329_357del (p.Arg110LeufsTer2) c.200_228del (p.Arg67LeufsTer15) c.200_228del (p.Arg67LeufsTer2) | ClinVar dbSNP |
| 7 | g.44145167G>A | CA257433 | GCK | c.*1365C>T (n.*1365C>T) c.*487C>T (n.*487C>T) n.593C>T c.401C>T (p.Ala134Val) c.1370C>T (p.Ala457Val) c.1367C>T (p.Ala456Val) c.1430C>T (p.Ala477Val) n.379C>T c.419C>T (p.Ala140Val) c.1364C>T (p.Ala455Val) c.1316C>T (p.Ala439Val) n.747C>T c.356C>T (p.Ala119Val) c.227C>T (p.Ala76Val) | ClinVar dbSNP |
| 7 | g.44145167G>C | CA367396849 | GCK | c.*1365C>G (n.*1365C>G) c.*487C>G (n.*487C>G) n.593C>G c.401C>G (p.Ala134Gly) c.1370C>G (p.Ala457Gly) c.1367C>G (p.Ala456Gly) c.1430C>G (p.Ala477Gly) n.379C>G c.419C>G (p.Ala140Gly) c.1364C>G (p.Ala455Gly) c.1316C>G (p.Ala439Gly) n.747C>G c.356C>G (p.Ala119Gly) c.227C>G (p.Ala76Gly) | |
| 7 | g.44145167G= | CA1703612648 | GCK | c.*1365C= (n.*1365C=) c.*487C= (n.*487C=) n.593C= c.401C= (p.Ala134=) c.1370C= (p.Ala457=) c.1367C= (p.Ala456=) c.1430C= (p.Ala477=) n.379C= c.419C= (p.Ala140=) c.1364C= (p.Ala455=) c.1316C= (p.Ala439=) n.747C= c.356C= (p.Ala119=) c.227C= (p.Ala76=) | |
| 7 | g.44145167G>T | CA367396848 | GCK | c.*1365C>A (n.*1365C>A) c.*487C>A (n.*487C>A) n.593C>A c.401C>A (p.Ala134Asp) c.1370C>A (p.Ala457Asp) c.1367C>A (p.Ala456Asp) c.1430C>A (p.Ala477Asp) n.379C>A c.419C>A (p.Ala140Asp) c.1364C>A (p.Ala455Asp) c.1316C>A (p.Ala439Asp) n.747C>A c.356C>A (p.Ala119Asp) c.227C>A (p.Ala76Asp) | gnomAD v4 |
| 7 | g.44145170_44145588del | CA2573142177 | GCK | c.*1163_*1365del c.*285_*487del n.391_593del c.199_401del c.1168_1370del c.1165_1367del c.1228_1430del n.177_379del c.217_419del c.1162_1364del c.1114_1316del n.545_747del c.154_356del c.25_227del | ClinVar |
| 7 | g.44145168C>A | CA367396850 | GCK | c.*1364G>T (n.*1364G>T) c.*486G>T (n.*486G>T) n.592G>T c.400G>T (p.Ala134Ser) c.1369G>T (p.Ala457Ser) c.1366G>T (p.Ala456Ser) c.1429G>T (p.Ala477Ser) n.378G>T c.418G>T (p.Ala140Ser) c.1363G>T (p.Ala455Ser) c.1315G>T (p.Ala439Ser) n.746G>T c.355G>T (p.Ala119Ser) c.226G>T (p.Ala76Ser) | |
| 7 | g.44145168C>G | CA367396852 | GCK | c.*1364G>C (n.*1364G>C) c.*486G>C (n.*486G>C) n.592G>C c.400G>C (p.Ala134Pro) c.1369G>C (p.Ala457Pro) c.1366G>C (p.Ala456Pro) c.1429G>C (p.Ala477Pro) n.378G>C c.418G>C (p.Ala140Pro) c.1363G>C (p.Ala455Pro) c.1315G>C (p.Ala439Pro) n.746G>C c.355G>C (p.Ala119Pro) c.226G>C (p.Ala76Pro) | |
| 7 | g.44145168C>T | CA367396853 | GCK | c.*1364G>A (n.*1364G>A) c.*486G>A (n.*486G>A) n.592G>A c.400G>A (p.Ala134Thr) c.1369G>A (p.Ala457Thr) c.1366G>A (p.Ala456Thr) c.1429G>A (p.Ala477Thr) n.378G>A c.418G>A (p.Ala140Thr) c.1363G>A (p.Ala455Thr) c.1315G>A (p.Ala439Thr) n.746G>A c.355G>A (p.Ala119Thr) c.226G>A (p.Ala76Thr) | gnomAD v4 |
| 7 | g.44145169C>A | CA454606343 | GCK | c.*1363G>T (n.*1363G>T) c.*485G>T (n.*485G>T) n.591G>T c.399G>T (p.Val133=) c.1368G>T (p.Val456=) c.1365G>T (p.Val455=) c.1428G>T (p.Val476=) n.377G>T c.417G>T (p.Val139=) c.1362G>T (p.Val454=) c.1314G>T (p.Val438=) n.745G>T c.354G>T (p.Val118=) c.225G>T (p.Val75=) | |
| 7 | g.44145169C= | CA1703612649 | GCK | c.*1363G= (n.*1363G=) c.*485G= (n.*485G=) n.591G= c.399G= (p.Val133=) c.1368G= (p.Val456=) c.1365G= (p.Val455=) c.1428G= (p.Val476=) n.377G= c.417G= (p.Val139=) c.1362G= (p.Val454=) c.1314G= (p.Val438=) n.745G= c.354G= (p.Val118=) c.225G= (p.Val75=) | |
| 7 | g.44145169C>G | CA454606344 | GCK | c.*1363G>C (n.*1363G>C) c.*485G>C (n.*485G>C) n.591G>C c.399G>C (p.Val133=) c.1368G>C (p.Val456=) c.1365G>C (p.Val455=) c.1428G>C (p.Val476=) n.377G>C c.417G>C (p.Val139=) c.1362G>C (p.Val454=) c.1314G>C (p.Val438=) n.745G>C c.354G>C (p.Val118=) c.225G>C (p.Val75=) | |
| 7 | g.44145169C>T | CA454606345 | GCK | c.*1363G>A (n.*1363G>A) c.*485G>A (n.*485G>A) n.591G>A c.399G>A (p.Val133=) c.1368G>A (p.Val456=) c.1365G>A (p.Val455=) c.1428G>A (p.Val476=) n.377G>A c.417G>A (p.Val139=) c.1362G>A (p.Val454=) c.1314G>A (p.Val438=) n.745G>A c.354G>A (p.Val118=) c.225G>A (p.Val75=) | dbSNP |
| 7 | g.44145170A= | CA1703612650 | GCK | c.*1362T= (n.*1362T=) c.*484T= (n.*484T=) n.590T= c.398T= (p.Val133=) c.1367T= (p.Val456=) c.1364T= (p.Val455=) c.1427T= (p.Val476=) n.376T= c.416T= (p.Val139=) c.1361T= (p.Val454=) c.1313T= (p.Val438=) n.744T= c.353T= (p.Val118=) c.224T= (p.Val75=) | |
| 7 | g.44145170A>C | CA367396854 | GCK | c.*1362T>G (n.*1362T>G) c.*484T>G (n.*484T>G) n.590T>G c.398T>G (p.Val133Gly) c.1367T>G (p.Val456Gly) c.1364T>G (p.Val455Gly) c.1427T>G (p.Val476Gly) n.376T>G c.416T>G (p.Val139Gly) c.1361T>G (p.Val454Gly) c.1313T>G (p.Val438Gly) n.744T>G c.353T>G (p.Val118Gly) c.224T>G (p.Val75Gly) | dbSNP |
| 7 | g.44145170A>G | CA367396855 | GCK | c.*1362T>C (n.*1362T>C) c.*484T>C (n.*484T>C) n.590T>C c.398T>C (p.Val133Ala) c.1367T>C (p.Val456Ala) c.1364T>C (p.Val455Ala) c.1427T>C (p.Val476Ala) n.376T>C c.416T>C (p.Val139Ala) c.1361T>C (p.Val454Ala) c.1313T>C (p.Val438Ala) n.744T>C c.353T>C (p.Val118Ala) c.224T>C (p.Val75Ala) | gnomAD v4 |
| 7 | g.44145170A>T | CA4239373 | GCK | c.*1362T>A (n.*1362T>A) c.*484T>A (n.*484T>A) n.590T>A c.398T>A (p.Val133Glu) c.1367T>A (p.Val456Glu) c.1364T>A (p.Val455Glu) c.1427T>A (p.Val476Glu) n.376T>A c.416T>A (p.Val139Glu) c.1361T>A (p.Val454Glu) c.1313T>A (p.Val438Glu) n.744T>A c.353T>A (p.Val118Glu) c.224T>A (p.Val75Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44145171C>A | CA367396857 | GCK | c.*1361G>T (n.*1361G>T) c.*483G>T (n.*483G>T) n.589G>T c.397G>T (p.Val133Leu) c.1366G>T (p.Val456Leu) c.1363G>T (p.Val455Leu) c.1426G>T (p.Val476Leu) n.375G>T c.415G>T (p.Val139Leu) c.1360G>T (p.Val454Leu) c.1312G>T (p.Val438Leu) n.743G>T c.352G>T (p.Val118Leu) c.223G>T (p.Val75Leu) | |
| 7 | g.44145171C= | CA1703612652 | GCK | c.*1361G= (n.*1361G=) c.*483G= (n.*483G=) n.589G= c.397G= (p.Val133=) c.1366G= (p.Val456=) c.1363G= (p.Val455=) c.1426G= (p.Val476=) n.375G= c.415G= (p.Val139=) c.1360G= (p.Val454=) c.1312G= (p.Val438=) n.743G= c.352G= (p.Val118=) c.223G= (p.Val75=) | |
| 7 | g.44145171C>G | CA367396858 | GCK | c.*1361G>C (n.*1361G>C) c.*483G>C (n.*483G>C) n.589G>C c.397G>C (p.Val133Leu) c.1366G>C (p.Val456Leu) c.1363G>C (p.Val455Leu) c.1426G>C (p.Val476Leu) n.375G>C c.415G>C (p.Val139Leu) c.1360G>C (p.Val454Leu) c.1312G>C (p.Val438Leu) n.743G>C c.352G>C (p.Val118Leu) c.223G>C (p.Val75Leu) | |
| 7 | g.44145171C>T | CA257432 | GCK | c.*1361G>A (n.*1361G>A) c.*483G>A (n.*483G>A) n.589G>A c.397G>A (p.Val133Met) c.1366G>A (p.Val456Met) c.1363G>A (p.Val455Met) c.1426G>A (p.Val476Met) n.375G>A c.415G>A (p.Val139Met) c.1360G>A (p.Val454Met) c.1312G>A (p.Val438Met) n.743G>A c.352G>A (p.Val118Met) c.223G>A (p.Val75Met) | ClinVar dbSNP gnomAD v4 |
| 7 | g.44145172_44145173insCCCC | CA157911785 | GCK | c.*1361_*1362insGGGG (n.*1361_*1362insGGGG) c.*483_*484insGGGG (n.*483_*484insGGGG) n.589_590insGGGG c.397_398insGGGG (p.Val133GlyfsTer5) c.1366_1367insGGGG (p.Val456GlyfsTer5) c.1363_1364insGGGG (p.Val455GlyfsTer5) c.1426_1427insGGGG (p.Val476GlyfsTer5) n.375_376insGGGG c.1363_1364insGGGG (p.Val455GlyfsTer18) c.415_416insGGGG (p.Val139GlyfsTer5) c.1360_1361insGGGG (p.Val454GlyfsTer5) c.1312_1313insGGGG (p.Val438GlyfsTer5) n.743_744insGGGG c.352_353insGGGG (p.Val118GlyfsTer5) c.223_224insGGGG (p.Val75GlyfsTer18) c.223_224insGGGG (p.Val75GlyfsTer5) | dbSNP |
| 7 | g.44145172dup | CA2573102980 | GCK | c.*1361dup (n.*1361dup) c.*483dup (n.*483dup) n.589dup c.397dup (p.Val133GlyfsTer4) c.1366dup (p.Val456GlyfsTer4) c.1363dup (p.Val455GlyfsTer4) c.1426dup (p.Val476GlyfsTer4) n.375dup c.1363dup (p.Val455GlyfsTer17) c.415dup (p.Val139GlyfsTer4) c.1360dup (p.Val454GlyfsTer4) c.1312dup (p.Val438GlyfsTer4) n.743dup c.352dup (p.Val118GlyfsTer4) c.223dup (p.Val75GlyfsTer17) c.223dup (p.Val75GlyfsTer4) | ClinVar |
| 7 | g.44145174_44145176dup | CA645372837 | GCK | c.*1359_*1361dup (n.*1359_*1361dup) c.*481_*483dup (n.*481_*483dup) n.587_589dup c.395_397dup (p.Ala132_Val133insAla) c.1364_1366dup (p.Ala455_Val456insAla) c.1361_1363dup (p.Ala454_Val455insAla) c.1424_1426dup (p.Ala475_Val476insAla) n.373_375dup c.413_415dup (p.Ala138_Val139insAla) c.1358_1360dup (p.Ala453_Val454insAla) c.1310_1312dup (p.Ala437_Val438insAla) n.741_743dup c.350_352dup (p.Ala117_Val118insAla) c.221_223dup (p.Ala74_Val75insAla) | ClinVar dbSNP |
| 7 | g.44145171_44145250delinsCCGCCGAGACCAGGGCCGCGCCCCGGCCACTGCCCTCCTCCGACTCGATGAAGGTGATCTCGCAGCTGGGCGTCAGCCTG | CA1703612651 | GCK | c.*1282_*1361delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG (n.*1282_*1361delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG) c.*404_*483delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG (n.*404_*483delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG) n.510_589delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG c.318_397delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG (p.Arg106=) c.1287_1366delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG (p.Arg429=) c.1284_1363delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG (p.Arg428=) c.1347_1426delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG (p.Arg449=) n.296_375delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG c.336_415delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG (p.Arg112=) c.1281_1360delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG (p.Arg427=) c.1233_1312delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG (p.Arg411=) n.664_743delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG c.273_352delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG (p.Arg91=) c.144_223delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG (p.Arg48=) | |
| 7 | g.44145172C>A | CA157911798 | GCK | c.*1360G>T (n.*1360G>T) c.*482G>T (n.*482G>T) n.588G>T c.396G>T (p.Ala132=) c.1365G>T (p.Ala455=) c.1362G>T (p.Ala454=) c.1425G>T (p.Ala475=) n.374G>T c.414G>T (p.Ala138=) c.1359G>T (p.Ala453=) c.1311G>T (p.Ala437=) n.742G>T c.351G>T (p.Ala117=) c.222G>T (p.Ala74=) | dbSNP gnomAD v4 |
| 7 | g.44145172C= | CA1703612653 | GCK | c.*1360G= (n.*1360G=) c.*482G= (n.*482G=) n.588G= c.396G= (p.Ala132=) c.1365G= (p.Ala455=) c.1362G= (p.Ala454=) c.1425G= (p.Ala475=) n.374G= c.414G= (p.Ala138=) c.1359G= (p.Ala453=) c.1311G= (p.Ala437=) n.742G= c.351G= (p.Ala117=) c.222G= (p.Ala74=) | |
| 7 | g.44145172C>G | CA454606346 | GCK | c.*1360G>C (n.*1360G>C) c.*482G>C (n.*482G>C) n.588G>C c.396G>C (p.Ala132=) c.1365G>C (p.Ala455=) c.1362G>C (p.Ala454=) c.1425G>C (p.Ala475=) n.374G>C c.414G>C (p.Ala138=) c.1359G>C (p.Ala453=) c.1311G>C (p.Ala437=) n.742G>C c.351G>C (p.Ala117=) c.222G>C (p.Ala74=) | gnomAD v4 |
| 7 | g.44145172C>T | CA454606347 | GCK | c.*1360G>A (n.*1360G>A) c.*482G>A (n.*482G>A) n.588G>A c.396G>A (p.Ala132=) c.1365G>A (p.Ala455=) c.1362G>A (p.Ala454=) c.1425G>A (p.Ala475=) n.374G>A c.414G>A (p.Ala138=) c.1359G>A (p.Ala453=) c.1311G>A (p.Ala437=) n.742G>A c.351G>A (p.Ala117=) c.222G>A (p.Ala74=) | gnomAD v4 |
| 7 | g.44145172_44145184delinsCGCCGAGACCAGG | CA1703612654 | GCK | c.*1348_*1360delinsCCTGGTCTCGGCG (n.*1348_*1360delinsCCTGGTCTCGGCG) c.*470_*482delinsCCTGGTCTCGGCG (n.*470_*482delinsCCTGGTCTCGGCG) n.576_588delinsCCTGGTCTCGGCG c.384_396delinsCCTGGTCTCGGCG (p.Ala128=) c.1353_1365delinsCCTGGTCTCGGCG (p.Ala451=) c.1350_1362delinsCCTGGTCTCGGCG (p.Ala450=) c.1413_1425delinsCCTGGTCTCGGCG (p.Ala471=) n.362_374delinsCCTGGTCTCGGCG c.402_414delinsCCTGGTCTCGGCG (p.Ala134=) c.1347_1359delinsCCTGGTCTCGGCG (p.Ala449=) c.1299_1311delinsCCTGGTCTCGGCG (p.Ala433=) n.730_742delinsCCTGGTCTCGGCG c.339_351delinsCCTGGTCTCGGCG (p.Ala113=) c.210_222delinsCCTGGTCTCGGCG (p.Ala70=) | |
| 7 | g.44145176_44145192del | CA2017997776 | GCK | c.*1344_*1360del (n.*1344_*1360del) c.*466_*482del (n.*466_*482del) n.572_588del c.380_396del (p.Ala127GlyfsTer4) c.1349_1365del (p.Ala450GlyfsTer4) c.1346_1362del (p.Ala449GlyfsTer4) c.1409_1425del (p.Ala470GlyfsTer4) n.358_374del c.1346_1362del (p.Ala449GlyfsTer17) c.398_414del (p.Ala133GlyfsTer4) c.1343_1359del (p.Ala448GlyfsTer4) c.1295_1311del (p.Ala432GlyfsTer4) n.726_742del c.335_351del (p.Ala112GlyfsTer4) c.206_222del (p.Ala69GlyfsTer17) c.206_222del (p.Ala69GlyfsTer4) | ClinVar |
| 7 | g.44145175_44145253del | CA1139660051 | GCK | c.*1282_*1360del (n.*1282_*1360del) c.*404_*482del (n.*404_*482del) n.510_588del c.318_396del (p.Arg107TrpfsTer?) c.1287_1365del (p.Arg430TrpfsTer?) c.1284_1362del (p.Arg429TrpfsTer?) c.1347_1425del (p.Arg450TrpfsTer?) n.296_374del c.1284_1362del (p.Arg429TrpfsTer9) c.336_414del (p.Arg113TrpfsTer?) c.1281_1359del (p.Arg428TrpfsTer?) c.1233_1311del (p.Arg412TrpfsTer?) n.664_742del c.273_351del (p.Arg92TrpfsTer?) c.144_222del (p.Arg49TrpfsTer9) c.144_222del (p.Arg49TrpfsTer?) | ClinVar dbSNP |
| 7 | g.44145173del | CA2695202948 | GCK | c.*1359del (n.*1359del) c.*481del (n.*481del) n.587del c.395del (p.Ala132GlyfsTer?) c.1364del (p.Ala455GlyfsTer?) c.1361del (p.Ala454GlyfsTer?) c.1424del (p.Ala475GlyfsTer?) n.373del c.1361del (p.Ala454GlyfsTer10) c.413del (p.Ala138GlyfsTer?) c.1358del (p.Ala453GlyfsTer?) c.1310del (p.Ala437GlyfsTer?) n.741del c.350del (p.Ala117GlyfsTer?) c.221del (p.Ala74GlyfsTer10) c.221del (p.Ala74GlyfsTer?) | |
| 7 | g.44145173G>A | CA367396861 | GCK | c.*1359C>T (n.*1359C>T) c.*481C>T (n.*481C>T) n.587C>T c.395C>T (p.Ala132Val) c.1364C>T (p.Ala455Val) c.1361C>T (p.Ala454Val) c.1424C>T (p.Ala475Val) n.373C>T c.413C>T (p.Ala138Val) c.1358C>T (p.Ala453Val) c.1310C>T (p.Ala437Val) n.741C>T c.350C>T (p.Ala117Val) c.221C>T (p.Ala74Val) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44145173G>C | CA367396863 | GCK | c.*1359C>G (n.*1359C>G) c.*481C>G (n.*481C>G) n.587C>G c.395C>G (p.Ala132Gly) c.1364C>G (p.Ala455Gly) c.1361C>G (p.Ala454Gly) c.1424C>G (p.Ala475Gly) n.373C>G c.413C>G (p.Ala138Gly) c.1358C>G (p.Ala453Gly) c.1310C>G (p.Ala437Gly) n.741C>G c.350C>G (p.Ala117Gly) c.221C>G (p.Ala74Gly) | |
| 7 | g.44145173G= | CA1703612655 | GCK | c.*1359C= (n.*1359C=) c.*481C= (n.*481C=) n.587C= c.395C= (p.Ala132=) c.1364C= (p.Ala455=) c.1361C= (p.Ala454=) c.1424C= (p.Ala475=) n.373C= c.413C= (p.Ala138=) c.1358C= (p.Ala453=) c.1310C= (p.Ala437=) n.741C= c.350C= (p.Ala117=) c.221C= (p.Ala74=) | |
| 7 | g.44145173G>T | CA16609264 | GCK | c.*1359C>A (n.*1359C>A) c.*481C>A (n.*481C>A) n.587C>A c.395C>A (p.Ala132Glu) c.1364C>A (p.Ala455Glu) c.1361C>A (p.Ala454Glu) c.1424C>A (p.Ala475Glu) n.373C>A c.413C>A (p.Ala138Glu) c.1358C>A (p.Ala453Glu) c.1310C>A (p.Ala437Glu) n.741C>A c.350C>A (p.Ala117Glu) c.221C>A (p.Ala74Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44145173_44145174delinsGC | CA1703612656 | GCK | c.*1358_*1359delinsGC (n.*1358_*1359delinsGC) c.*480_*481delinsGC (n.*480_*481delinsGC) n.586_587delinsGC c.394_395delinsGC (p.Ala132=) c.1363_1364delinsGC (p.Ala455=) c.1360_1361delinsGC (p.Ala454=) c.1423_1424delinsGC (p.Ala475=) n.372_373delinsGC c.412_413delinsGC (p.Ala138=) c.1357_1358delinsGC (p.Ala453=) c.1309_1310delinsGC (p.Ala437=) n.740_741delinsGC c.349_350delinsGC (p.Ala117=) c.220_221delinsGC (p.Ala74=) | |
| 7 | g.44145177_44145188del | CA915944914 | GCK | c.*1348_*1359del (n.*1348_*1359del) c.*470_*481del (n.*470_*481del) n.576_587del c.384_395del (p.Leu129_Ala132del) c.1353_1364del (p.Leu452_Ala455del) c.1350_1361del (p.Leu451_Ala454del) c.1413_1424del (p.Leu472_Ala475del) n.362_373del c.402_413del (p.Leu135_Ala138del) c.1347_1358del (p.Leu450_Ala453del) c.1299_1310del (p.Leu434_Ala437del) n.730_741del c.339_350del (p.Leu114_Ala117del) c.210_221del (p.Leu71_Ala74del) | ClinVar dbSNP |
| 7 | g.44145174C>A | CA367396870 | GCK | c.*1358G>T (n.*1358G>T) c.*480G>T (n.*480G>T) n.586G>T c.394G>T (p.Ala132Ser) c.1363G>T (p.Ala455Ser) c.1360G>T (p.Ala454Ser) c.1423G>T (p.Ala475Ser) n.372G>T c.412G>T (p.Ala138Ser) c.1357G>T (p.Ala453Ser) c.1309G>T (p.Ala437Ser) n.740G>T c.349G>T (p.Ala117Ser) c.220G>T (p.Ala74Ser) | |
| 7 | g.44145174C>G | CA367396868 | GCK | c.*1358G>C (n.*1358G>C) c.*480G>C (n.*480G>C) n.586G>C c.394G>C (p.Ala132Pro) c.1363G>C (p.Ala455Pro) c.1360G>C (p.Ala454Pro) c.1423G>C (p.Ala475Pro) n.372G>C c.412G>C (p.Ala138Pro) c.1357G>C (p.Ala453Pro) c.1309G>C (p.Ala437Pro) n.740G>C c.349G>C (p.Ala117Pro) c.220G>C (p.Ala74Pro) | |
| 7 | g.44145174C>T | CA367396867 | GCK | c.*1358G>A (n.*1358G>A) c.*480G>A (n.*480G>A) n.586G>A c.394G>A (p.Ala132Thr) c.1363G>A (p.Ala455Thr) c.1360G>A (p.Ala454Thr) c.1423G>A (p.Ala475Thr) n.372G>A c.412G>A (p.Ala138Thr) c.1357G>A (p.Ala453Thr) c.1309G>A (p.Ala437Thr) n.740G>A c.349G>A (p.Ala117Thr) c.220G>A (p.Ala74Thr) | |
| 7 | g.44145175del | CA915944915 | GCK | c.*1358del (n.*1358del) c.*480del (n.*480del) n.586del c.394del (p.Ala132ArgfsTer?) c.1363del (p.Ala455ArgfsTer?) c.1360del (p.Ala454ArgfsTer?) c.1423del (p.Ala475ArgfsTer?) n.372del c.1360del (p.Ala454ArgfsTer10) c.412del (p.Ala138ArgfsTer?) c.1357del (p.Ala453ArgfsTer?) c.1309del (p.Ala437ArgfsTer?) n.740del c.349del (p.Ala117ArgfsTer?) c.220del (p.Ala74ArgfsTer10) c.220del (p.Ala74ArgfsTer?) | ClinVar dbSNP gnomAD v4 |