Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.44145570_44145605del | CA2682581391 | GCK | c.*1145_*1180del (n.*1145_*1180del) c.*267_*302del (n.*267_*302del) n.373_408del c.181_216del (p.Ser61_Arg72del) c.1150_1185del (p.Ser384_Arg395del) c.1147_1182del (p.Ser383_Arg394del) c.1210_1245del (p.Ser404_Arg415del) n.159_194del c.199_234del (p.Ser67_Arg78del) c.1144_1179del (p.Ser382_Arg393del) c.1096_1131del (p.Ser366_Arg377del) n.527_562del c.136_171del (p.Ser46_Arg57del) c.7_42del (p.Ser3_Arg14del) | gnomAD v4 |
7 | g.44145591C>A | CA367398692 | GCK | c.*1157G>T (n.*1157G>T) c.*279G>T (n.*279G>T) n.385G>T c.193G>T (p.Ala65Ser) c.1162G>T (p.Ala388Ser) c.1159G>T (p.Ala387Ser) c.1222G>T (p.Ala408Ser) n.171G>T c.211G>T (p.Ala71Ser) c.1156G>T (p.Ala386Ser) c.1108G>T (p.Ala370Ser) n.539G>T c.148G>T (p.Ala50Ser) c.19G>T (p.Ala7Ser) | |
7 | g.44145591C= | CA1703612895 | GCK | c.*1157G= (n.*1157G=) c.*279G= (n.*279G=) n.385G= c.193G= (p.Ala65=) c.1162G= (p.Ala388=) c.1159G= (p.Ala387=) c.1222G= (p.Ala408=) n.171G= c.211G= (p.Ala71=) c.1156G= (p.Ala386=) c.1108G= (p.Ala370=) n.539G= c.148G= (p.Ala50=) c.19G= (p.Ala7=) | |
7 | g.44145591C>G | CA367398693 | GCK | c.*1157G>C (n.*1157G>C) c.*279G>C (n.*279G>C) n.385G>C c.193G>C (p.Ala65Pro) c.1162G>C (p.Ala388Pro) c.1159G>C (p.Ala387Pro) c.1222G>C (p.Ala408Pro) n.171G>C c.211G>C (p.Ala71Pro) c.1156G>C (p.Ala386Pro) c.1108G>C (p.Ala370Pro) n.539G>C c.148G>C (p.Ala50Pro) c.19G>C (p.Ala7Pro) | |
7 | g.44145591C>T | CA367398695 | GCK | c.*1157G>A (n.*1157G>A) c.*279G>A (n.*279G>A) n.385G>A c.193G>A (p.Ala65Thr) c.1162G>A (p.Ala388Thr) c.1159G>A (p.Ala387Thr) c.1222G>A (p.Ala408Thr) n.171G>A c.211G>A (p.Ala71Thr) c.1156G>A (p.Ala386Thr) c.1108G>A (p.Ala370Thr) n.539G>A c.148G>A (p.Ala50Thr) c.19G>A (p.Ala7Thr) | ClinVar dbSNP |
7 | g.44145592C>A | CA454863217 | GCK | c.*1156G>T (n.*1156G>T) c.*278G>T (n.*278G>T) n.384G>T c.192G>T (p.Leu64=) c.1161G>T (p.Leu387=) c.1158G>T (p.Leu386=) c.1221G>T (p.Leu407=) n.170G>T c.210G>T (p.Leu70=) c.1155G>T (p.Leu385=) c.1107G>T (p.Leu369=) n.538G>T c.147G>T (p.Leu49=) c.18G>T (p.Leu6=) | dbSNP |
7 | g.44145592C= | CA1703612896 | GCK | c.*1156G= (n.*1156G=) c.*278G= (n.*278G=) n.384G= c.192G= (p.Leu64=) c.1161G= (p.Leu387=) c.1158G= (p.Leu386=) c.1221G= (p.Leu407=) n.170G= c.210G= (p.Leu70=) c.1155G= (p.Leu385=) c.1107G= (p.Leu369=) n.538G= c.147G= (p.Leu49=) c.18G= (p.Leu6=) | |
7 | g.44145592C>G | CA454863218 | GCK | c.*1156G>C (n.*1156G>C) c.*278G>C (n.*278G>C) n.384G>C c.192G>C (p.Leu64=) c.1161G>C (p.Leu387=) c.1158G>C (p.Leu386=) c.1221G>C (p.Leu407=) n.170G>C c.210G>C (p.Leu70=) c.1155G>C (p.Leu385=) c.1107G>C (p.Leu369=) n.538G>C c.147G>C (p.Leu49=) c.18G>C (p.Leu6=) | |
7 | g.44145592C>T | CA454863219 | GCK | c.*1156G>A (n.*1156G>A) c.*278G>A (n.*278G>A) n.384G>A c.192G>A (p.Leu64=) c.1161G>A (p.Leu387=) c.1158G>A (p.Leu386=) c.1221G>A (p.Leu407=) n.170G>A c.210G>A (p.Leu70=) c.1155G>A (p.Leu385=) c.1107G>A (p.Leu369=) n.538G>A c.147G>A (p.Leu49=) c.18G>A (p.Leu6=) | dbSNP gnomAD v2 |
7 | g.44145593A= | CA1703612897 | GCK | c.*1155T= (n.*1155T=) c.*277T= (n.*277T=) n.383T= c.191T= (p.Leu64=) c.1160T= (p.Leu387=) c.1157T= (p.Leu386=) c.1220T= (p.Leu407=) n.169T= c.209T= (p.Leu70=) c.1154T= (p.Leu385=) c.1106T= (p.Leu369=) n.537T= c.146T= (p.Leu49=) c.17T= (p.Leu6=) | |
7 | g.44145593A>C | CA367398699 | GCK | c.*1155T>G (n.*1155T>G) c.*277T>G (n.*277T>G) n.383T>G c.191T>G (p.Leu64Arg) c.1160T>G (p.Leu387Arg) c.1157T>G (p.Leu386Arg) c.1220T>G (p.Leu407Arg) n.169T>G c.209T>G (p.Leu70Arg) c.1154T>G (p.Leu385Arg) c.1106T>G (p.Leu369Arg) n.537T>G c.146T>G (p.Leu49Arg) c.17T>G (p.Leu6Arg) | ClinVar |
7 | g.44145593A>G | CA213723 | GCK | c.*1155T>C (n.*1155T>C) c.*277T>C (n.*277T>C) n.383T>C c.191T>C (p.Leu64Pro) c.1160T>C (p.Leu387Pro) c.1157T>C (p.Leu386Pro) c.1220T>C (p.Leu407Pro) n.169T>C c.209T>C (p.Leu70Pro) c.1154T>C (p.Leu385Pro) c.1106T>C (p.Leu369Pro) n.537T>C c.146T>C (p.Leu49Pro) c.17T>C (p.Leu6Pro) | ClinVar dbSNP gnomAD v4 |
7 | g.44145593A>T | CA367398702 | GCK | c.*1155T>A (n.*1155T>A) c.*277T>A (n.*277T>A) n.383T>A c.191T>A (p.Leu64Gln) c.1160T>A (p.Leu387Gln) c.1157T>A (p.Leu386Gln) c.1220T>A (p.Leu407Gln) n.169T>A c.209T>A (p.Leu70Gln) c.1154T>A (p.Leu385Gln) c.1106T>A (p.Leu369Gln) n.537T>A c.146T>A (p.Leu49Gln) c.17T>A (p.Leu6Gln) | |
7 | g.44145594del | CA2580077148 | GCK | c.*1154del (n.*1154del) c.*276del (n.*276del) n.382del c.190del (p.Leu64TrpfsTer16) c.1159del (p.Leu387TrpfsTer16) c.1156del (p.Leu386TrpfsTer16) c.1219del (p.Leu407TrpfsTer16) n.168del c.208del (p.Leu70TrpfsTer16) c.1153del (p.Leu385TrpfsTer16) c.1105del (p.Leu369TrpfsTer16) n.536del c.145del (p.Leu49TrpfsTer16) c.16del (p.Leu6TrpfsTer16) | ClinVar |
7 | g.44145594G>A | CA454863220 | GCK | c.*1154C>T (n.*1154C>T) c.*276C>T (n.*276C>T) n.382C>T c.190C>T (p.Leu64=) c.1159C>T (p.Leu387=) c.1156C>T (p.Leu386=) c.1219C>T (p.Leu407=) n.168C>T c.208C>T (p.Leu70=) c.1153C>T (p.Leu385=) c.1105C>T (p.Leu369=) n.536C>T c.145C>T (p.Leu49=) c.16C>T (p.Leu6=) | |
7 | g.44145594G>C | CA367398705 | GCK | c.*1154C>G (n.*1154C>G) c.*276C>G (n.*276C>G) n.382C>G c.190C>G (p.Leu64Val) c.1159C>G (p.Leu387Val) c.1156C>G (p.Leu386Val) c.1219C>G (p.Leu407Val) n.168C>G c.208C>G (p.Leu70Val) c.1153C>G (p.Leu385Val) c.1105C>G (p.Leu369Val) n.536C>G c.145C>G (p.Leu49Val) c.16C>G (p.Leu6Val) | ClinVar dbSNP gnomAD v4 |
7 | g.44145594G= | CA1703612899 | GCK | c.*1154C= (n.*1154C=) c.*276C= (n.*276C=) n.382C= c.190C= (p.Leu64=) c.1159C= (p.Leu387=) c.1156C= (p.Leu386=) c.1219C= (p.Leu407=) n.168C= c.208C= (p.Leu70=) c.1153C= (p.Leu385=) c.1105C= (p.Leu369=) n.536C= c.145C= (p.Leu49=) c.16C= (p.Leu6=) | |
7 | g.44145594G>T | CA367398708 | GCK | c.*1154C>A (n.*1154C>A) c.*276C>A (n.*276C>A) n.382C>A c.190C>A (p.Leu64Met) c.1159C>A (p.Leu387Met) c.1156C>A (p.Leu386Met) c.1219C>A (p.Leu407Met) n.168C>A c.208C>A (p.Leu70Met) c.1153C>A (p.Leu385Met) c.1105C>A (p.Leu369Met) n.536C>A c.145C>A (p.Leu49Met) c.16C>A (p.Leu6Met) | gnomAD v4 |
7 | g.44145594_44145595delinsGC | CA1703612898 | GCK | c.*1153_*1154delinsGC (n.*1153_*1154delinsGC) c.*275_*276delinsGC (n.*275_*276delinsGC) n.381_382delinsGC c.189_190delinsGC (p.Gly63=) c.1158_1159delinsGC (p.Gly386=) c.1155_1156delinsGC (p.Gly385=) c.1218_1219delinsGC (p.Gly406=) n.167_168delinsGC c.207_208delinsGC (p.Gly69=) c.1152_1153delinsGC (p.Gly384=) c.1104_1105delinsGC (p.Gly368=) n.535_536delinsGC c.144_145delinsGC (p.Gly48=) c.15_16delinsGC (p.Gly5=) | |
7 | g.44145595C>A | CA454863221 | GCK | c.*1153G>T (n.*1153G>T) c.*275G>T (n.*275G>T) n.381G>T c.189G>T (p.Gly63=) c.1158G>T (p.Gly386=) c.1155G>T (p.Gly385=) c.1218G>T (p.Gly406=) n.167G>T c.207G>T (p.Gly69=) c.1152G>T (p.Gly384=) c.1104G>T (p.Gly368=) n.535G>T c.144G>T (p.Gly48=) c.15G>T (p.Gly5=) | |
7 | g.44145595C= | CA1703612900 | GCK | c.*1153G= (n.*1153G=) c.*275G= (n.*275G=) n.381G= c.189G= (p.Gly63=) c.1158G= (p.Gly386=) c.1155G= (p.Gly385=) c.1218G= (p.Gly406=) n.167G= c.207G= (p.Gly69=) c.1152G= (p.Gly384=) c.1104G= (p.Gly368=) n.535G= c.144G= (p.Gly48=) c.15G= (p.Gly5=) | |
7 | g.44145595C>G | CA454863223 | GCK | c.*1153G>C (n.*1153G>C) c.*275G>C (n.*275G>C) n.381G>C c.189G>C (p.Gly63=) c.1158G>C (p.Gly386=) c.1155G>C (p.Gly385=) c.1218G>C (p.Gly406=) n.167G>C c.207G>C (p.Gly69=) c.1152G>C (p.Gly384=) c.1104G>C (p.Gly368=) n.535G>C c.144G>C (p.Gly48=) c.15G>C (p.Gly5=) | |
7 | g.44145595C>T | CA454863224 | GCK | c.*1153G>A (n.*1153G>A) c.*275G>A (n.*275G>A) n.381G>A c.189G>A (p.Gly63=) c.1158G>A (p.Gly386=) c.1155G>A (p.Gly385=) c.1218G>A (p.Gly406=) n.167G>A c.207G>A (p.Gly69=) c.1152G>A (p.Gly384=) c.1104G>A (p.Gly368=) n.535G>A c.144G>A (p.Gly48=) c.15G>A (p.Gly5=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.44145598dup | CA658655961 | GCK | c.*1153dup (n.*1153dup) c.*275dup (n.*275dup) n.381dup c.189dup (p.Leu64AlafsTer?) c.1158dup (p.Leu387AlafsTer?) c.1155dup (p.Leu386AlafsTer?) c.1218dup (p.Leu407AlafsTer?) n.167dup c.207dup (p.Leu70AlafsTer?) c.1152dup (p.Leu385AlafsTer?) c.1104dup (p.Leu369AlafsTer?) n.535dup c.144dup (p.Leu49AlafsTer?) c.15dup (p.Leu6AlafsTer?) | ClinVar dbSNP |
7 | g.44145598del | CA574226173 | GCK | c.*1153del (n.*1153del) c.*275del (n.*275del) n.381del c.189del (p.Leu64TrpfsTer16) c.1158del (p.Leu387TrpfsTer16) c.1155del (p.Leu386TrpfsTer16) c.1218del (p.Leu407TrpfsTer16) n.167del c.207del (p.Leu70TrpfsTer16) c.1152del (p.Leu385TrpfsTer16) c.1104del (p.Leu369TrpfsTer16) n.535del c.144del (p.Leu49TrpfsTer16) c.15del (p.Leu6TrpfsTer16) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145596C>A | CA367398710 | GCK | c.*1152G>T (n.*1152G>T) c.*274G>T (n.*274G>T) n.380G>T c.188G>T (p.Gly63Val) c.1157G>T (p.Gly386Val) c.1154G>T (p.Gly385Val) c.1217G>T (p.Gly406Val) n.166G>T c.206G>T (p.Gly69Val) c.1151G>T (p.Gly384Val) c.1103G>T (p.Gly368Val) n.534G>T c.143G>T (p.Gly48Val) c.14G>T (p.Gly5Val) | |
7 | g.44145596C= | CA1703612901 | GCK | c.*1152G= (n.*1152G=) c.*274G= (n.*274G=) n.380G= c.188G= (p.Gly63=) c.1157G= (p.Gly386=) c.1154G= (p.Gly385=) c.1217G= (p.Gly406=) n.166G= c.206G= (p.Gly69=) c.1151G= (p.Gly384=) c.1103G= (p.Gly368=) n.534G= c.143G= (p.Gly48=) c.14G= (p.Gly5=) | |
7 | g.44145596C>G | CA367398711 | GCK | c.*1152G>C (n.*1152G>C) c.*274G>C (n.*274G>C) n.380G>C c.188G>C (p.Gly63Ala) c.1157G>C (p.Gly386Ala) c.1154G>C (p.Gly385Ala) c.1217G>C (p.Gly406Ala) n.166G>C c.206G>C (p.Gly69Ala) c.1151G>C (p.Gly384Ala) c.1103G>C (p.Gly368Ala) n.534G>C c.143G>C (p.Gly48Ala) c.14G>C (p.Gly5Ala) | |
7 | g.44145596C>T | CA367398712 | GCK | c.*1152G>A (n.*1152G>A) c.*274G>A (n.*274G>A) n.380G>A c.188G>A (p.Gly63Glu) c.1157G>A (p.Gly386Glu) c.1154G>A (p.Gly385Glu) c.1217G>A (p.Gly406Glu) n.166G>A c.206G>A (p.Gly69Glu) c.1151G>A (p.Gly384Glu) c.1103G>A (p.Gly368Glu) n.534G>A c.143G>A (p.Gly48Glu) c.14G>A (p.Gly5Glu) | ClinVar dbSNP |
7 | g.44145596_44145615delinsGTTGATGAG | CA1139532694 | GCK | c.*1133_*1152delinsCTCATCAAC (n.*1133_*1152delinsCTCATCAAC) c.*255_*274delinsCTCATCAAC (n.*255_*274delinsCTCATCAAC) n.361_380delinsCTCATCAAC c.169_188delinsCTCATCAAC (p.Ala57LeufsTer?) c.1138_1157delinsCTCATCAAC (p.Ala380LeufsTer?) c.1135_1154delinsCTCATCAAC (p.Ala379LeufsTer?) c.1198_1217delinsCTCATCAAC (p.Ala400LeufsTer?) n.147_166delinsCTCATCAAC c.187_206delinsCTCATCAAC (p.Ala63LeufsTer?) c.1132_1151delinsCTCATCAAC (p.Ala378LeufsTer?) c.1084_1103delinsCTCATCAAC (p.Ala362LeufsTer?) n.515_534delinsCTCATCAAC c.124_143delinsCTCATCAAC (p.Ala42LeufsTer?) c.-6_14delinsCTCATCAAC | |
7 | g.44145597C>A | CA367398715 | GCK | c.*1151G>T (n.*1151G>T) c.*273G>T (n.*273G>T) n.379G>T c.187G>T (p.Gly63Trp) c.1156G>T (p.Gly386Trp) c.1153G>T (p.Gly385Trp) c.1216G>T (p.Gly406Trp) n.165G>T c.205G>T (p.Gly69Trp) c.1150G>T (p.Gly384Trp) c.1102G>T (p.Gly368Trp) n.533G>T c.142G>T (p.Gly48Trp) c.13G>T (p.Gly5Trp) | |
7 | g.44145597C= | CA1703612902 | GCK | c.*1151G= (n.*1151G=) c.*273G= (n.*273G=) n.379G= c.187G= (p.Gly63=) c.1156G= (p.Gly386=) c.1153G= (p.Gly385=) c.1216G= (p.Gly406=) n.165G= c.205G= (p.Gly69=) c.1150G= (p.Gly384=) c.1102G= (p.Gly368=) n.533G= c.142G= (p.Gly48=) c.13G= (p.Gly5=) | |
7 | g.44145597C>G | CA367398717 | GCK | c.*1151G>C (n.*1151G>C) c.*273G>C (n.*273G>C) n.379G>C c.187G>C (p.Gly63Arg) c.1156G>C (p.Gly386Arg) c.1153G>C (p.Gly385Arg) c.1216G>C (p.Gly406Arg) n.165G>C c.205G>C (p.Gly69Arg) c.1150G>C (p.Gly384Arg) c.1102G>C (p.Gly368Arg) n.533G>C c.142G>C (p.Gly48Arg) c.13G>C (p.Gly5Arg) | ClinVar |
7 | g.44145597C>T | CA213721 | GCK | c.*1151G>A (n.*1151G>A) c.*273G>A (n.*273G>A) n.379G>A c.187G>A (p.Gly63Arg) c.1156G>A (p.Gly386Arg) c.1153G>A (p.Gly385Arg) c.1216G>A (p.Gly406Arg) n.165G>A c.205G>A (p.Gly69Arg) c.1150G>A (p.Gly384Arg) c.1102G>A (p.Gly368Arg) n.533G>A c.142G>A (p.Gly48Arg) c.13G>A (p.Gly5Arg) | ClinVar dbSNP gnomAD v4 |
7 | g.44145598C>A | CA454863227 | GCK | c.*1150G>T (n.*1150G>T) c.*272G>T (n.*272G>T) n.378G>T c.186G>T (p.Ala62=) c.1155G>T (p.Ala385=) c.1152G>T (p.Ala384=) c.1215G>T (p.Ala405=) n.164G>T c.204G>T (p.Ala68=) c.1149G>T (p.Ala383=) c.1101G>T (p.Ala367=) n.532G>T c.141G>T (p.Ala47=) c.12G>T (p.Ala4=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44145598C= | CA1703612903 | GCK | c.*1150G= (n.*1150G=) c.*272G= (n.*272G=) n.378G= c.186G= (p.Ala62=) c.1155G= (p.Ala385=) c.1152G= (p.Ala384=) c.1215G= (p.Ala405=) n.164G= c.204G= (p.Ala68=) c.1149G= (p.Ala383=) c.1101G= (p.Ala367=) n.532G= c.141G= (p.Ala47=) c.12G= (p.Ala4=) | |
7 | g.44145598C>G | CA454863228 | GCK | c.*1150G>C (n.*1150G>C) c.*272G>C (n.*272G>C) n.378G>C c.186G>C (p.Ala62=) c.1155G>C (p.Ala385=) c.1152G>C (p.Ala384=) c.1215G>C (p.Ala405=) n.164G>C c.204G>C (p.Ala68=) c.1149G>C (p.Ala383=) c.1101G>C (p.Ala367=) n.532G>C c.141G>C (p.Ala47=) c.12G>C (p.Ala4=) | gnomAD v4 |
7 | g.44145598C>T | CA4239422 | GCK | c.*1150G>A (n.*1150G>A) c.*272G>A (n.*272G>A) n.378G>A c.186G>A (p.Ala62=) c.1155G>A (p.Ala385=) c.1152G>A (p.Ala384=) c.1215G>A (p.Ala405=) n.164G>A c.204G>A (p.Ala68=) c.1149G>A (p.Ala383=) c.1101G>A (p.Ala367=) n.532G>A c.141G>A (p.Ala47=) c.12G>A (p.Ala4=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.44145599G>A | CA367398721 | GCK | c.*1149C>T (n.*1149C>T) c.*271C>T (n.*271C>T) n.377C>T c.185C>T (p.Ala62Val) c.1154C>T (p.Ala385Val) c.1151C>T (p.Ala384Val) c.1214C>T (p.Ala405Val) n.163C>T c.203C>T (p.Ala68Val) c.1148C>T (p.Ala383Val) c.1100C>T (p.Ala367Val) n.531C>T c.140C>T (p.Ala47Val) c.11C>T (p.Ala4Val) | ClinVar dbSNP gnomAD v4 |
7 | g.44145599G>C | CA367398723 | GCK | c.*1149C>G (n.*1149C>G) c.*271C>G (n.*271C>G) n.377C>G c.185C>G (p.Ala62Gly) c.1154C>G (p.Ala385Gly) c.1151C>G (p.Ala384Gly) c.1214C>G (p.Ala405Gly) n.163C>G c.203C>G (p.Ala68Gly) c.1148C>G (p.Ala383Gly) c.1100C>G (p.Ala367Gly) n.531C>G c.140C>G (p.Ala47Gly) c.11C>G (p.Ala4Gly) | |
7 | g.44145599G= | CA1703612904 | GCK | c.*1149C= (n.*1149C=) c.*271C= (n.*271C=) n.377C= c.185C= (p.Ala62=) c.1154C= (p.Ala385=) c.1151C= (p.Ala384=) c.1214C= (p.Ala405=) n.163C= c.203C= (p.Ala68=) c.1148C= (p.Ala383=) c.1100C= (p.Ala367=) n.531C= c.140C= (p.Ala47=) c.11C= (p.Ala4=) | |
7 | g.44145599G>T | CA367398725 | GCK | c.*1149C>A (n.*1149C>A) c.*271C>A (n.*271C>A) n.377C>A c.185C>A (p.Ala62Glu) c.1154C>A (p.Ala385Glu) c.1151C>A (p.Ala384Glu) c.1214C>A (p.Ala405Glu) n.163C>A c.203C>A (p.Ala68Glu) c.1148C>A (p.Ala383Glu) c.1100C>A (p.Ala367Glu) n.531C>A c.140C>A (p.Ala47Glu) c.11C>A (p.Ala4Glu) | ClinVar dbSNP gnomAD v4 |
7 | g.44145601_44145618del | CA2695203012 | GCK | c.*1132_*1149del (n.*1132_*1149del) c.*254_*271del (n.*254_*271del) n.360_377del c.168_185del (p.Ala57_Ala62del) c.1137_1154del (p.Ala380_Ala385del) c.1134_1151del (p.Ala379_Ala384del) c.1197_1214del (p.Ala400_Ala405del) n.146_163del c.186_203del (p.Ala63_Ala68del) c.1131_1148del (p.Ala378_Ala383del) c.1083_1100del (p.Ala362_Ala367del) n.514_531del c.123_140del (p.Ala42_Ala47del) c.-7_11del | |
7 | g.44145600C>A | CA367398727 | GCK | c.*1148G>T (n.*1148G>T) c.*270G>T (n.*270G>T) n.376G>T c.184G>T (p.Ala62Ser) c.1153G>T (p.Ala385Ser) c.1150G>T (p.Ala384Ser) c.1213G>T (p.Ala405Ser) n.162G>T c.202G>T (p.Ala68Ser) c.1147G>T (p.Ala383Ser) c.1099G>T (p.Ala367Ser) n.530G>T c.139G>T (p.Ala47Ser) c.10G>T (p.Ala4Ser) | gnomAD v4 |
7 | g.44145600C= | CA1703612906 | GCK | c.*1148G= (n.*1148G=) c.*270G= (n.*270G=) n.376G= c.184G= (p.Ala62=) c.1153G= (p.Ala385=) c.1150G= (p.Ala384=) c.1213G= (p.Ala405=) n.162G= c.202G= (p.Ala68=) c.1147G= (p.Ala383=) c.1099G= (p.Ala367=) n.530G= c.139G= (p.Ala47=) c.10G= (p.Ala4=) | |
7 | g.44145600C>G | CA367398729 | GCK | c.*1148G>C (n.*1148G>C) c.*270G>C (n.*270G>C) n.376G>C c.184G>C (p.Ala62Pro) c.1153G>C (p.Ala385Pro) c.1150G>C (p.Ala384Pro) c.1213G>C (p.Ala405Pro) n.162G>C c.202G>C (p.Ala68Pro) c.1147G>C (p.Ala383Pro) c.1099G>C (p.Ala367Pro) n.530G>C c.139G>C (p.Ala47Pro) c.10G>C (p.Ala4Pro) | ClinVar dbSNP |
7 | g.44145600C>T | CA367398732 | GCK | c.*1148G>A (n.*1148G>A) c.*270G>A (n.*270G>A) n.376G>A c.184G>A (p.Ala62Thr) c.1153G>A (p.Ala385Thr) c.1150G>A (p.Ala384Thr) c.1213G>A (p.Ala405Thr) n.162G>A c.202G>A (p.Ala68Thr) c.1147G>A (p.Ala383Thr) c.1099G>A (p.Ala367Thr) n.530G>A c.139G>A (p.Ala47Thr) c.10G>A (p.Ala4Thr) | ClinVar dbSNP gnomAD v2 |
7 | g.44145600_44145617delinsCCGAGCACATGTGCGCAG | CA1703612905 | GCK | c.*1131_*1148delinsCTGCGCACATGTGCTCGG (n.*1131_*1148delinsCTGCGCACATGTGCTCGG) c.*253_*270delinsCTGCGCACATGTGCTCGG (n.*253_*270delinsCTGCGCACATGTGCTCGG) n.359_376delinsCTGCGCACATGTGCTCGG c.167_184delinsCTGCGCACATGTGCTCGG (p.Ala56=) c.1136_1153delinsCTGCGCACATGTGCTCGG (p.Ala379=) c.1133_1150delinsCTGCGCACATGTGCTCGG (p.Ala378=) c.1196_1213delinsCTGCGCACATGTGCTCGG (p.Ala399=) n.145_162delinsCTGCGCACATGTGCTCGG c.185_202delinsCTGCGCACATGTGCTCGG (p.Ala62=) c.1130_1147delinsCTGCGCACATGTGCTCGG (p.Ala377=) c.1082_1099delinsCTGCGCACATGTGCTCGG (p.Ala361=) n.513_530delinsCTGCGCACATGTGCTCGG c.122_139delinsCTGCGCACATGTGCTCGG (p.Ala41=) c.-8_10delinsCTGCGCACATGTGCTCGG | |
7 | g.44145601C>A | CA454863234 | GCK | c.*1147G>T (n.*1147G>T) c.*269G>T (n.*269G>T) n.375G>T c.183G>T (p.Ser61=) c.1152G>T (p.Ser384=) c.1149G>T (p.Ser383=) c.1212G>T (p.Ser404=) n.161G>T c.201G>T (p.Ser67=) c.1146G>T (p.Ser382=) c.1098G>T (p.Ser366=) n.529G>T c.138G>T (p.Ser46=) c.9G>T (p.Ser3=) | gnomAD v4 |
7 | g.44145601C= | CA1703612907 | GCK | c.*1147G= (n.*1147G=) c.*269G= (n.*269G=) n.375G= c.183G= (p.Ser61=) c.1152G= (p.Ser384=) c.1149G= (p.Ser383=) c.1212G= (p.Ser404=) n.161G= c.201G= (p.Ser67=) c.1146G= (p.Ser382=) c.1098G= (p.Ser366=) n.529G= c.138G= (p.Ser46=) c.9G= (p.Ser3=) | |
7 | g.44145601C>G | CA454863232 | GCK | c.*1147G>C (n.*1147G>C) c.*269G>C (n.*269G>C) n.375G>C c.183G>C (p.Ser61=) c.1152G>C (p.Ser384=) c.1149G>C (p.Ser383=) c.1212G>C (p.Ser404=) n.161G>C c.201G>C (p.Ser67=) c.1146G>C (p.Ser382=) c.1098G>C (p.Ser366=) n.529G>C c.138G>C (p.Ser46=) c.9G>C (p.Ser3=) | |
7 | g.44145601C>T | CA454863233 | GCK | c.*1147G>A (n.*1147G>A) c.*269G>A (n.*269G>A) n.375G>A c.183G>A (p.Ser61=) c.1152G>A (p.Ser384=) c.1149G>A (p.Ser383=) c.1212G>A (p.Ser404=) n.161G>A c.201G>A (p.Ser67=) c.1146G>A (p.Ser382=) c.1098G>A (p.Ser366=) n.529G>A c.138G>A (p.Ser46=) c.9G>A (p.Ser3=) | dbSNP gnomAD v4 |
7 | g.44145601_44145602delinsCG | CA1703612908 | GCK | c.*1146_*1147delinsCG (n.*1146_*1147delinsCG) c.*268_*269delinsCG (n.*268_*269delinsCG) n.374_375delinsCG c.182_183delinsCG (p.Ser61=) c.1151_1152delinsCG (p.Ser384=) c.1148_1149delinsCG (p.Ser383=) c.1211_1212delinsCG (p.Ser404=) n.160_161delinsCG c.200_201delinsCG (p.Ser67=) c.1145_1146delinsCG (p.Ser382=) c.1097_1098delinsCG (p.Ser366=) n.528_529delinsCG c.137_138delinsCG (p.Ser46=) c.8_9delinsCG (p.Ser3=) | |
7 | g.44145602_44145607dup | CA2695203013 | GCK | c.*1142_*1147dup (n.*1142_*1147dup) c.*264_*269dup (n.*264_*269dup) n.370_375dup c.178_183dup (p.Ser61_Ala62insCysSer) c.1147_1152dup (p.Ser384_Ala385insCysSer) c.1144_1149dup (p.Ser383_Ala384insCysSer) c.1207_1212dup (p.Ser404_Ala405insCysSer) n.156_161dup c.196_201dup (p.Ser67_Ala68insCysSer) c.1141_1146dup (p.Ser382_Ala383insCysSer) c.1093_1098dup (p.Ser366_Ala367insCysSer) n.524_529dup c.133_138dup (p.Ser46_Ala47insCysSer) c.4_9dup (p.Ser3_Ala4insCysSer) | |
7 | g.44145603_44145619del | CA658655962 | GCK | c.*1131_*1147del (n.*1131_*1147del) c.*253_*269del (n.*253_*269del) n.359_375del c.167_183del (p.Ala56GlyfsTer?) c.1136_1152del (p.Ala379GlyfsTer?) c.1133_1149del (p.Ala378GlyfsTer?) c.1196_1212del (p.Ala399GlyfsTer?) n.145_161del c.185_201del (p.Ala62GlyfsTer?) c.1130_1146del (p.Ala377GlyfsTer?) c.1082_1098del (p.Ala361GlyfsTer?) n.513_529del c.122_138del (p.Ala41GlyfsTer?) c.-8_9del | ClinVar dbSNP |
7 | g.44145602del | CA1139660056 | GCK | c.*1146del (n.*1146del) c.*268del (n.*268del) n.374del c.182del (p.Ser61TrpfsTer19) c.1151del (p.Ser384TrpfsTer19) c.1148del (p.Ser383TrpfsTer19) c.1211del (p.Ser404TrpfsTer19) n.160del c.200del (p.Ser67TrpfsTer19) c.1145del (p.Ser382TrpfsTer19) c.1097del (p.Ser366TrpfsTer19) n.528del c.137del (p.Ser46TrpfsTer19) c.8del (p.Ser3TrpfsTer19) | ClinVar dbSNP |
7 | g.44145602G>A | CA10581499 | GCK | c.*1146C>T (n.*1146C>T) c.*268C>T (n.*268C>T) n.374C>T c.182C>T (p.Ser61Leu) c.1151C>T (p.Ser384Leu) c.1148C>T (p.Ser383Leu) c.1211C>T (p.Ser404Leu) n.160C>T c.200C>T (p.Ser67Leu) c.1145C>T (p.Ser382Leu) c.1097C>T (p.Ser366Leu) n.528C>T c.137C>T (p.Ser46Leu) c.8C>T (p.Ser3Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145602G>C | CA367398735 | GCK | c.*1146C>G (n.*1146C>G) c.*268C>G (n.*268C>G) n.374C>G c.182C>G (p.Ser61Trp) c.1151C>G (p.Ser384Trp) c.1148C>G (p.Ser383Trp) c.1211C>G (p.Ser404Trp) n.160C>G c.200C>G (p.Ser67Trp) c.1145C>G (p.Ser382Trp) c.1097C>G (p.Ser366Trp) n.528C>G c.137C>G (p.Ser46Trp) c.8C>G (p.Ser3Trp) | ClinVar |
7 | g.44145602G= | CA1703612909 | GCK | c.*1146C= (n.*1146C=) c.*268C= (n.*268C=) n.374C= c.182C= (p.Ser61=) c.1151C= (p.Ser384=) c.1148C= (p.Ser383=) c.1211C= (p.Ser404=) n.160C= c.200C= (p.Ser67=) c.1145C= (p.Ser382=) c.1097C= (p.Ser366=) n.528C= c.137C= (p.Ser46=) c.8C= (p.Ser3=) | |
7 | g.44145602G>T | CA4239423 | GCK | c.*1146C>A (n.*1146C>A) c.*268C>A (n.*268C>A) n.374C>A c.182C>A (p.Ser61Ter) c.1151C>A (p.Ser384Ter) c.1148C>A (p.Ser383Ter) c.1211C>A (p.Ser404Ter) n.160C>A c.200C>A (p.Ser67Ter) c.1145C>A (p.Ser382Ter) c.1097C>A (p.Ser366Ter) n.528C>A c.137C>A (p.Ser46Ter) c.8C>A (p.Ser3Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.44145603A= | CA1703612910 | GCK | c.*1145T= (n.*1145T=) c.*267T= (n.*267T=) n.373T= c.181T= (p.Ser61=) c.1150T= (p.Ser384=) c.1147T= (p.Ser383=) c.1210T= (p.Ser404=) n.159T= c.199T= (p.Ser67=) c.1144T= (p.Ser382=) c.1096T= (p.Ser366=) n.527T= c.136T= (p.Ser46=) c.7T= (p.Ser3=) | |
7 | g.44145603A>C | CA4239424 | GCK | c.*1145T>G (n.*1145T>G) c.*267T>G (n.*267T>G) n.373T>G c.181T>G (p.Ser61Ala) c.1150T>G (p.Ser384Ala) c.1147T>G (p.Ser383Ala) c.1210T>G (p.Ser404Ala) n.159T>G c.199T>G (p.Ser67Ala) c.1144T>G (p.Ser382Ala) c.1096T>G (p.Ser366Ala) n.527T>G c.136T>G (p.Ser46Ala) c.7T>G (p.Ser3Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.44145603A>G | CA367398737 | GCK | c.*1145T>C (n.*1145T>C) c.*267T>C (n.*267T>C) n.373T>C c.181T>C (p.Ser61Pro) c.1150T>C (p.Ser384Pro) c.1147T>C (p.Ser383Pro) c.1210T>C (p.Ser404Pro) n.159T>C c.199T>C (p.Ser67Pro) c.1144T>C (p.Ser382Pro) c.1096T>C (p.Ser366Pro) n.527T>C c.136T>C (p.Ser46Pro) c.7T>C (p.Ser3Pro) | ClinVar dbSNP |
7 | g.44145603A>T | CA367398738 | GCK | c.*1145T>A (n.*1145T>A) c.*267T>A (n.*267T>A) n.373T>A c.181T>A (p.Ser61Thr) c.1150T>A (p.Ser384Thr) c.1147T>A (p.Ser383Thr) c.1210T>A (p.Ser404Thr) n.159T>A c.199T>A (p.Ser67Thr) c.1144T>A (p.Ser382Thr) c.1096T>A (p.Ser366Thr) n.527T>A c.136T>A (p.Ser46Thr) c.7T>A (p.Ser3Thr) | ClinVar |
7 | g.44145604G>A | CA454863238 | GCK | c.*1144C>T (n.*1144C>T) c.*266C>T (n.*266C>T) n.372C>T c.180C>T (p.Cys60=) c.1149C>T (p.Cys383=) c.1146C>T (p.Cys382=) c.1209C>T (p.Cys403=) n.158C>T c.198C>T (p.Cys66=) c.1143C>T (p.Cys381=) c.1095C>T (p.Cys365=) n.526C>T c.135C>T (p.Cys45=) c.6C>T (p.Cys2=) | gnomAD v4 |
7 | g.44145604G>C | CA367398740 | GCK | c.*1144C>G (n.*1144C>G) c.*266C>G (n.*266C>G) n.372C>G c.180C>G (p.Cys60Trp) c.1149C>G (p.Cys383Trp) c.1146C>G (p.Cys382Trp) c.1209C>G (p.Cys403Trp) n.158C>G c.198C>G (p.Cys66Trp) c.1143C>G (p.Cys381Trp) c.1095C>G (p.Cys365Trp) n.526C>G c.135C>G (p.Cys45Trp) c.6C>G (p.Cys2Trp) | |
7 | g.44145604G= | CA1703612911 | GCK | c.*1144C= (n.*1144C=) c.*266C= (n.*266C=) n.372C= c.180C= (p.Cys60=) c.1149C= (p.Cys383=) c.1146C= (p.Cys382=) c.1209C= (p.Cys403=) n.158C= c.198C= (p.Cys66=) c.1143C= (p.Cys381=) c.1095C= (p.Cys365=) n.526C= c.135C= (p.Cys45=) c.6C= (p.Cys2=) | |
7 | g.44145604G>T | CA367398741 | GCK | c.*1144C>A (n.*1144C>A) c.*266C>A (n.*266C>A) n.372C>A c.180C>A (p.Cys60Ter) c.1149C>A (p.Cys383Ter) c.1146C>A (p.Cys382Ter) c.1209C>A (p.Cys403Ter) n.158C>A c.198C>A (p.Cys66Ter) c.1143C>A (p.Cys381Ter) c.1095C>A (p.Cys365Ter) n.526C>A c.135C>A (p.Cys45Ter) c.6C>A (p.Cys2Ter) | ClinVar dbSNP |
7 | g.44145605C>A | CA367398742 | GCK | c.*1143G>T (n.*1143G>T) c.*265G>T (n.*265G>T) n.371G>T c.179G>T (p.Cys60Phe) c.1148G>T (p.Cys383Phe) c.1145G>T (p.Cys382Phe) c.1208G>T (p.Cys403Phe) n.157G>T c.197G>T (p.Cys66Phe) c.1142G>T (p.Cys381Phe) c.1094G>T (p.Cys365Phe) n.525G>T c.134G>T (p.Cys45Phe) c.5G>T (p.Cys2Phe) | |
7 | g.44145605C= | CA1703612912 | GCK | c.*1143G= (n.*1143G=) c.*265G= (n.*265G=) n.371G= c.179G= (p.Cys60=) c.1148G= (p.Cys383=) c.1145G= (p.Cys382=) c.1208G= (p.Cys403=) n.157G= c.197G= (p.Cys66=) c.1142G= (p.Cys381=) c.1094G= (p.Cys365=) n.525G= c.134G= (p.Cys45=) c.5G= (p.Cys2=) | |
7 | g.44145605C>G | CA367398745 | GCK | c.*1143G>C (n.*1143G>C) c.*265G>C (n.*265G>C) n.371G>C c.179G>C (p.Cys60Ser) c.1148G>C (p.Cys383Ser) c.1145G>C (p.Cys382Ser) c.1208G>C (p.Cys403Ser) n.157G>C c.197G>C (p.Cys66Ser) c.1142G>C (p.Cys381Ser) c.1094G>C (p.Cys365Ser) n.525G>C c.134G>C (p.Cys45Ser) c.5G>C (p.Cys2Ser) | ClinVar dbSNP |
7 | g.44145605C>T | CA367398751 | GCK | c.*1143G>A (n.*1143G>A) c.*265G>A (n.*265G>A) n.371G>A c.179G>A (p.Cys60Tyr) c.1148G>A (p.Cys383Tyr) c.1145G>A (p.Cys382Tyr) c.1208G>A (p.Cys403Tyr) n.157G>A c.197G>A (p.Cys66Tyr) c.1142G>A (p.Cys381Tyr) c.1094G>A (p.Cys365Tyr) n.525G>A c.134G>A (p.Cys45Tyr) c.5G>A (p.Cys2Tyr) | ClinVar dbSNP |
7 | g.44145606del | CA2580612100 | GCK | c.*1142del (n.*1142del) c.*264del (n.*264del) n.370del c.178del (p.Cys60AlafsTer20) c.1147del (p.Cys383AlafsTer20) c.1144del (p.Cys382AlafsTer20) c.1207del (p.Cys403AlafsTer20) n.156del c.196del (p.Cys66AlafsTer20) c.1141del (p.Cys381AlafsTer20) c.1093del (p.Cys365AlafsTer20) n.524del c.133del (p.Cys45AlafsTer20) c.4del (p.Cys2AlafsTer20) | ClinVar |
7 | g.44145606A= | CA1703612913 | GCK | c.*1142T= (n.*1142T=) c.*264T= (n.*264T=) n.370T= c.178T= (p.Cys60=) c.1147T= (p.Cys383=) c.1144T= (p.Cys382=) c.1207T= (p.Cys403=) n.156T= c.196T= (p.Cys66=) c.1141T= (p.Cys381=) c.1093T= (p.Cys365=) n.524T= c.133T= (p.Cys45=) c.4T= (p.Cys2=) | |
7 | g.44145606A>C | CA367398753 | GCK | c.*1142T>G (n.*1142T>G) c.*264T>G (n.*264T>G) n.370T>G c.178T>G (p.Cys60Gly) c.1147T>G (p.Cys383Gly) c.1144T>G (p.Cys382Gly) c.1207T>G (p.Cys403Gly) n.156T>G c.196T>G (p.Cys66Gly) c.1141T>G (p.Cys381Gly) c.1093T>G (p.Cys365Gly) n.524T>G c.133T>G (p.Cys45Gly) c.4T>G (p.Cys2Gly) | ClinVar gnomAD v4 |
7 | g.44145606A>G | CA367398754 | GCK | c.*1142T>C (n.*1142T>C) c.*264T>C (n.*264T>C) n.370T>C c.178T>C (p.Cys60Arg) c.1147T>C (p.Cys383Arg) c.1144T>C (p.Cys382Arg) c.1207T>C (p.Cys403Arg) n.156T>C c.196T>C (p.Cys66Arg) c.1141T>C (p.Cys381Arg) c.1093T>C (p.Cys365Arg) n.524T>C c.133T>C (p.Cys45Arg) c.4T>C (p.Cys2Arg) | ClinVar dbSNP |
7 | g.44145606A>T | CA367398756 | GCK | c.*1142T>A (n.*1142T>A) c.*264T>A (n.*264T>A) n.370T>A c.178T>A (p.Cys60Ser) c.1147T>A (p.Cys383Ser) c.1144T>A (p.Cys382Ser) c.1207T>A (p.Cys403Ser) n.156T>A c.196T>A (p.Cys66Ser) c.1141T>A (p.Cys381Ser) c.1093T>A (p.Cys365Ser) n.524T>A c.133T>A (p.Cys45Ser) c.4T>A (p.Cys2Ser) | |
7 | g.44145607C>A | CA367398761 | GCK | c.*1141G>T (n.*1141G>T) c.*263G>T (n.*263G>T) n.369G>T c.177G>T (p.Met59Ile) c.1146G>T (p.Met382Ile) c.1143G>T (p.Met381Ile) c.1206G>T (p.Met402Ile) n.155G>T c.195G>T (p.Met65Ile) c.1140G>T (p.Met380Ile) c.1092G>T (p.Met364Ile) n.523G>T c.132G>T (p.Met44Ile) c.3G>T (p.Met1Ile) | |
7 | g.44145607C>G | CA367398760 | GCK | c.*1141G>C (n.*1141G>C) c.*263G>C (n.*263G>C) n.369G>C c.177G>C (p.Met59Ile) c.1146G>C (p.Met382Ile) c.1143G>C (p.Met381Ile) c.1206G>C (p.Met402Ile) n.155G>C c.195G>C (p.Met65Ile) c.1140G>C (p.Met380Ile) c.1092G>C (p.Met364Ile) n.523G>C c.132G>C (p.Met44Ile) c.3G>C (p.Met1Ile) | |
7 | g.44145607C>T | CA367398758 | GCK | c.*1141G>A (n.*1141G>A) c.*263G>A (n.*263G>A) n.369G>A c.177G>A (p.Met59Ile) c.1146G>A (p.Met382Ile) c.1143G>A (p.Met381Ile) c.1206G>A (p.Met402Ile) n.155G>A c.195G>A (p.Met65Ile) c.1140G>A (p.Met380Ile) c.1092G>A (p.Met364Ile) n.523G>A c.132G>A (p.Met44Ile) c.3G>A (p.Met1Ile) | |
7 | g.44145608A= | CA1703612914 | GCK | c.*1140T= (n.*1140T=) c.*262T= (n.*262T=) n.368T= c.176T= (p.Met59=) c.1145T= (p.Met382=) c.1142T= (p.Met381=) c.1205T= (p.Met402=) n.154T= c.194T= (p.Met65=) c.1139T= (p.Met380=) c.1091T= (p.Met364=) n.522T= c.131T= (p.Met44=) c.2T= (p.Met1=) | |
7 | g.44145608A>C | CA213719 | GCK | c.*1140T>G (n.*1140T>G) c.*262T>G (n.*262T>G) n.368T>G c.176T>G (p.Met59Arg) c.1145T>G (p.Met382Arg) c.1142T>G (p.Met381Arg) c.1205T>G (p.Met402Arg) n.154T>G c.194T>G (p.Met65Arg) c.1139T>G (p.Met380Arg) c.1091T>G (p.Met364Arg) n.522T>G c.131T>G (p.Met44Arg) c.2T>G (p.Met1Arg) | ClinVar dbSNP |
7 | g.44145608A>G | CA367398764 | GCK | c.*1140T>C (n.*1140T>C) c.*262T>C (n.*262T>C) n.368T>C c.176T>C (p.Met59Thr) c.1145T>C (p.Met382Thr) c.1142T>C (p.Met381Thr) c.1205T>C (p.Met402Thr) n.154T>C c.194T>C (p.Met65Thr) c.1139T>C (p.Met380Thr) c.1091T>C (p.Met364Thr) n.522T>C c.131T>C (p.Met44Thr) c.2T>C (p.Met1Thr) | ClinVar gnomAD v4 |
7 | g.44145608A>T | CA367398767 | GCK | c.*1140T>A (n.*1140T>A) c.*262T>A (n.*262T>A) n.368T>A c.176T>A (p.Met59Lys) c.1145T>A (p.Met382Lys) c.1142T>A (p.Met381Lys) c.1205T>A (p.Met402Lys) n.154T>A c.194T>A (p.Met65Lys) c.1139T>A (p.Met380Lys) c.1091T>A (p.Met364Lys) n.522T>A c.131T>A (p.Met44Lys) c.2T>A (p.Met1Lys) | ClinVar dbSNP |
7 | g.44145608_44145609del | CA2580077154 | GCK | c.*1139_*1140del (n.*1139_*1140del) c.*261_*262del (n.*261_*262del) n.367_368del c.175_176del (p.Met59ValfsTer?) c.1144_1145del (p.Met382ValfsTer?) c.1141_1142del (p.Met381ValfsTer?) c.1204_1205del (p.Met402ValfsTer?) n.153_154del c.193_194del (p.Met65ValfsTer?) c.1138_1139del (p.Met380ValfsTer?) c.1090_1091del (p.Met364ValfsTer?) n.521_522del c.130_131del (p.Met44ValfsTer?) c.1_2del (p.Met1ValfsTer?) | ClinVar |
7 | g.44145609T>A | CA367398769 | GCK | c.*1139A>T (n.*1139A>T) c.*261A>T (n.*261A>T) n.367A>T c.175A>T (p.Met59Leu) c.1144A>T (p.Met382Leu) c.1141A>T (p.Met381Leu) c.1204A>T (p.Met402Leu) n.153A>T c.193A>T (p.Met65Leu) c.1138A>T (p.Met380Leu) c.1090A>T (p.Met364Leu) n.521A>T c.130A>T (p.Met44Leu) c.1A>T (p.Met1Leu) | gnomAD v4 |
7 | g.44145609T>C | CA367398772 | GCK | c.*1139A>G (n.*1139A>G) c.*261A>G (n.*261A>G) n.367A>G c.175A>G (p.Met59Val) c.1144A>G (p.Met382Val) c.1141A>G (p.Met381Val) c.1204A>G (p.Met402Val) n.153A>G c.193A>G (p.Met65Val) c.1138A>G (p.Met380Val) c.1090A>G (p.Met364Val) n.521A>G c.130A>G (p.Met44Val) c.1A>G (p.Met1Val) | gnomAD v4 |
7 | g.44145609T>G | CA4239425 | GCK | c.*1139A>C (n.*1139A>C) c.*261A>C (n.*261A>C) n.367A>C c.175A>C (p.Met59Leu) c.1144A>C (p.Met382Leu) c.1141A>C (p.Met381Leu) c.1204A>C (p.Met402Leu) n.153A>C c.193A>C (p.Met65Leu) c.1138A>C (p.Met380Leu) c.1090A>C (p.Met364Leu) n.521A>C c.130A>C (p.Met44Leu) c.1A>C (p.Met1Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.44145609T= | CA1703612915 | GCK | c.*1139A= (n.*1139A=) c.*261A= (n.*261A=) n.367A= c.175A= (p.Met59=) c.1144A= (p.Met382=) c.1141A= (p.Met381=) c.1204A= (p.Met402=) n.153A= c.193A= (p.Met65=) c.1138A= (p.Met380=) c.1090A= (p.Met364=) n.521A= c.130A= (p.Met44=) c.1A= (p.Met1=) | |
7 | g.44145609_44145610insATGT | CA2697557249 | GCK | c.*1139_*1140insCATA (n.*1139_*1140insCATA) c.*261_*262insCATA (n.*261_*262insCATA) n.367_368insCATA c.175_176insCATA (p.Met59ThrfsTer?) c.1144_1145insCATA (p.Met382ThrfsTer?) c.1141_1142insCATA (p.Met381ThrfsTer?) c.1204_1205insCATA (p.Met402ThrfsTer?) n.153_154insCATA c.193_194insCATA (p.Met65ThrfsTer?) c.1138_1139insCATA (p.Met380ThrfsTer?) c.1090_1091insCATA (p.Met364ThrfsTer?) n.521_522insCATA c.130_131insCATA (p.Met44ThrfsTer?) c.1_2insCATA (p.Met1ThrfsTer?) | ClinVar |
7 | g.44145610G>A | CA454863243 | GCK | c.*1138C>T (n.*1138C>T) c.*260C>T (n.*260C>T) n.366C>T c.174C>T (p.His58=) c.1143C>T (p.His381=) c.1140C>T (p.His380=) c.1203C>T (p.His401=) n.152C>T c.192C>T (p.His64=) c.1137C>T (p.His379=) c.1089C>T (p.His363=) n.520C>T c.129C>T (p.His43=) c.-1C>T (n.-1C>T) | |
7 | g.44145610G>C | CA367398774 | GCK | c.*1138C>G (n.*1138C>G) c.*260C>G (n.*260C>G) n.366C>G c.174C>G (p.His58Gln) c.1143C>G (p.His381Gln) c.1140C>G (p.His380Gln) c.1203C>G (p.His401Gln) n.152C>G c.192C>G (p.His64Gln) c.1137C>G (p.His379Gln) c.1089C>G (p.His363Gln) n.520C>G c.129C>G (p.His43Gln) c.-1C>G (n.-1C>G) | |
7 | g.44145610G= | CA1703612916 | GCK | c.*1138C= (n.*1138C=) c.*260C= (n.*260C=) n.366C= c.174C= (p.His58=) c.1143C= (p.His381=) c.1140C= (p.His380=) c.1203C= (p.His401=) n.152C= c.192C= (p.His64=) c.1137C= (p.His379=) c.1089C= (p.His363=) n.520C= c.129C= (p.His43=) c.-1C= (n.-1C=) | |
7 | g.44145610G>T | CA4239426 | GCK | c.*1138C>A (n.*1138C>A) c.*260C>A (n.*260C>A) n.366C>A c.174C>A (p.His58Gln) c.1143C>A (p.His381Gln) c.1140C>A (p.His380Gln) c.1203C>A (p.His401Gln) n.152C>A c.192C>A (p.His64Gln) c.1137C>A (p.His379Gln) c.1089C>A (p.His363Gln) n.520C>A c.129C>A (p.His43Gln) c.-1C>A (n.-1C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.44145611T>A | CA367398778 | GCK | c.*1137A>T (n.*1137A>T) c.*259A>T (n.*259A>T) n.365A>T c.173A>T (p.His58Leu) c.1142A>T (p.His381Leu) c.1139A>T (p.His380Leu) c.1202A>T (p.His401Leu) n.151A>T c.191A>T (p.His64Leu) c.1136A>T (p.His379Leu) c.1088A>T (p.His363Leu) n.519A>T c.128A>T (p.His43Leu) c.-2A>T (n.-2A>T) | |
7 | g.44145611T>C | CA367398781 | GCK | c.*1137A>G (n.*1137A>G) c.*259A>G (n.*259A>G) n.365A>G c.173A>G (p.His58Arg) c.1142A>G (p.His381Arg) c.1139A>G (p.His380Arg) c.1202A>G (p.His401Arg) n.151A>G c.191A>G (p.His64Arg) c.1136A>G (p.His379Arg) c.1088A>G (p.His363Arg) n.519A>G c.128A>G (p.His43Arg) c.-2A>G (n.-2A>G) | dbSNP gnomAD v4 |
7 | g.44145611T>G | CA367398780 | GCK | c.*1137A>C (n.*1137A>C) c.*259A>C (n.*259A>C) n.365A>C c.173A>C (p.His58Pro) c.1142A>C (p.His381Pro) c.1139A>C (p.His380Pro) c.1202A>C (p.His401Pro) n.151A>C c.191A>C (p.His64Pro) c.1136A>C (p.His379Pro) c.1088A>C (p.His363Pro) n.519A>C c.128A>C (p.His43Pro) c.-2A>C (n.-2A>C) | ClinVar dbSNP |
7 | g.44145611_44145620delinsTGCGCAGCGC | CA1703612917 | GCK | c.*1128_*1137delinsGCGCTGCGCA (n.*1128_*1137delinsGCGCTGCGCA) c.*250_*259delinsGCGCTGCGCA (n.*250_*259delinsGCGCTGCGCA) n.356_365delinsGCGCTGCGCA c.164_173delinsGCGCTGCGCA (p.Arg55=) c.1133_1142delinsGCGCTGCGCA (p.Arg378=) c.1130_1139delinsGCGCTGCGCA (p.Arg377=) c.1193_1202delinsGCGCTGCGCA (p.Arg398=) n.142_151delinsGCGCTGCGCA c.182_191delinsGCGCTGCGCA (p.Arg61=) c.1127_1136delinsGCGCTGCGCA (p.Arg376=) c.1079_1088delinsGCGCTGCGCA (p.Arg360=) n.510_519delinsGCGCTGCGCA c.119_128delinsGCGCTGCGCA (p.Arg40=) c.-11_-2delinsGCGCTGCGCA (n.-11_-2delinsGCGCTGCGCA) | |
7 | g.44145612G>A | CA367398783 | GCK | c.*1136C>T (n.*1136C>T) c.*258C>T (n.*258C>T) n.364C>T c.172C>T (p.His58Tyr) c.1141C>T (p.His381Tyr) c.1138C>T (p.His380Tyr) c.1201C>T (p.His401Tyr) n.150C>T c.190C>T (p.His64Tyr) c.1135C>T (p.His379Tyr) c.1087C>T (p.His363Tyr) n.518C>T c.127C>T (p.His43Tyr) c.-3C>T (n.-3C>T) | |
7 | g.44145612G>C | CA367398784 | GCK | c.*1136C>G (n.*1136C>G) c.*258C>G (n.*258C>G) n.364C>G c.172C>G (p.His58Asp) c.1141C>G (p.His381Asp) c.1138C>G (p.His380Asp) c.1201C>G (p.His401Asp) n.150C>G c.190C>G (p.His64Asp) c.1135C>G (p.His379Asp) c.1087C>G (p.His363Asp) n.518C>G c.127C>G (p.His43Asp) c.-3C>G (n.-3C>G) | |
7 | g.44145612G>T | CA367398788 | GCK | c.*1136C>A (n.*1136C>A) c.*258C>A (n.*258C>A) n.364C>A c.172C>A (p.His58Asn) c.1141C>A (p.His381Asn) c.1138C>A (p.His380Asn) c.1201C>A (p.His401Asn) n.150C>A c.190C>A (p.His64Asn) c.1135C>A (p.His379Asn) c.1087C>A (p.His363Asn) n.518C>A c.127C>A (p.His43Asn) c.-3C>A (n.-3C>A) | |
7 | g.44145615_44145623del | CA645369436 | GCK | c.*1128_*1136del (n.*1128_*1136del) c.*250_*258del (n.*250_*258del) n.356_364del c.164_172del (p.Arg55_Ala57del) c.1133_1141del (p.Arg378_Ala380del) c.1130_1138del (p.Arg377_Ala379del) c.1193_1201del (p.Arg398_Ala400del) n.142_150del c.182_190del (p.Arg61_Ala63del) c.1127_1135del (p.Arg376_Ala378del) c.1079_1087del (p.Arg360_Ala362del) n.510_518del c.119_127del (p.Arg40_Ala42del) c.-11_-3del (n.-11_-3del) | ClinVar dbSNP |
7 | g.44145613C>A | CA454863245 | GCK | c.*1135G>T (n.*1135G>T) c.*257G>T (n.*257G>T) n.363G>T c.171G>T (p.Ala57=) c.1140G>T (p.Ala380=) c.1137G>T (p.Ala379=) c.1200G>T (p.Ala400=) n.149G>T c.189G>T (p.Ala63=) c.1134G>T (p.Ala378=) c.1086G>T (p.Ala362=) n.517G>T c.126G>T (p.Ala42=) c.-4G>T (n.-4G>T) | gnomAD v4 |
7 | g.44145613C= | CA1703612918 | GCK | c.*1135G= (n.*1135G=) c.*257G= (n.*257G=) n.363G= c.171G= (p.Ala57=) c.1140G= (p.Ala380=) c.1137G= (p.Ala379=) c.1200G= (p.Ala400=) n.149G= c.189G= (p.Ala63=) c.1134G= (p.Ala378=) c.1086G= (p.Ala362=) n.517G= c.126G= (p.Ala42=) c.-4G= (n.-4G=) | |
7 | g.44145613C>G | CA454863246 | GCK | c.*1135G>C (n.*1135G>C) c.*257G>C (n.*257G>C) n.363G>C c.171G>C (p.Ala57=) c.1140G>C (p.Ala380=) c.1137G>C (p.Ala379=) c.1200G>C (p.Ala400=) n.149G>C c.189G>C (p.Ala63=) c.1134G>C (p.Ala378=) c.1086G>C (p.Ala362=) n.517G>C c.126G>C (p.Ala42=) c.-4G>C (n.-4G>C) | dbSNP |
7 | g.44145613C>T | CA4239427 | GCK | c.*1135G>A (n.*1135G>A) c.*257G>A (n.*257G>A) n.363G>A c.171G>A (p.Ala57=) c.1140G>A (p.Ala380=) c.1137G>A (p.Ala379=) c.1200G>A (p.Ala400=) n.149G>A c.189G>A (p.Ala63=) c.1134G>A (p.Ala378=) c.1086G>A (p.Ala362=) n.517G>A c.126G>A (p.Ala42=) c.-4G>A (n.-4G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
7 | g.44145618_44145640del | CA2695203016 | GCK | c.*1113_*1135del (n.*1113_*1135del) c.*235_*257del (n.*235_*257del) n.341_363del c.149_171del (p.Glu50AlafsTer?) c.1118_1140del (p.Glu373AlafsTer?) c.1115_1137del (p.Glu372AlafsTer?) c.1178_1200del (p.Glu393AlafsTer?) n.127_149del c.167_189del (p.Glu56AlafsTer?) c.1112_1134del (p.Glu371AlafsTer?) c.1064_1086del (p.Glu355AlafsTer?) n.495_517del c.104_126del (p.Glu35AlafsTer?) c.-26_-4del (n.-26_-4del) | |
7 | g.44145614G>A | CA367398790 | GCK | c.*1134C>T (n.*1134C>T) c.*256C>T (n.*256C>T) n.362C>T c.170C>T (p.Ala57Val) c.1139C>T (p.Ala380Val) c.1136C>T (p.Ala379Val) c.1199C>T (p.Ala400Val) n.148C>T c.188C>T (p.Ala63Val) c.1133C>T (p.Ala378Val) c.1085C>T (p.Ala362Val) n.516C>T c.125C>T (p.Ala42Val) c.-5C>T (n.-5C>T) | ClinVar dbSNP gnomAD v4 |
7 | g.44145614G>C | CA367398793 | GCK | c.*1134C>G (n.*1134C>G) c.*256C>G (n.*256C>G) n.362C>G c.170C>G (p.Ala57Gly) c.1139C>G (p.Ala380Gly) c.1136C>G (p.Ala379Gly) c.1199C>G (p.Ala400Gly) n.148C>G c.188C>G (p.Ala63Gly) c.1133C>G (p.Ala378Gly) c.1085C>G (p.Ala362Gly) n.516C>G c.125C>G (p.Ala42Gly) c.-5C>G (n.-5C>G) | ClinVar dbSNP |
7 | g.44145614G= | CA1703612919 | GCK | c.*1134C= (n.*1134C=) c.*256C= (n.*256C=) n.362C= c.170C= (p.Ala57=) c.1139C= (p.Ala380=) c.1136C= (p.Ala379=) c.1199C= (p.Ala400=) n.148C= c.188C= (p.Ala63=) c.1133C= (p.Ala378=) c.1085C= (p.Ala362=) n.516C= c.125C= (p.Ala42=) c.-5C= (n.-5C=) | |
7 | g.44145614G>T | CA213717 | GCK | c.*1134C>A (n.*1134C>A) c.*256C>A (n.*256C>A) n.362C>A c.170C>A (p.Ala57Glu) c.1139C>A (p.Ala380Glu) c.1136C>A (p.Ala379Glu) c.1199C>A (p.Ala400Glu) n.148C>A c.188C>A (p.Ala63Glu) c.1133C>A (p.Ala378Glu) c.1085C>A (p.Ala362Glu) n.516C>A c.125C>A (p.Ala42Glu) c.-5C>A (n.-5C>A) | ClinVar dbSNP gnomAD v4 |
7 | g.44145615C>A | CA367398795 | GCK | c.*1133G>T (n.*1133G>T) c.*255G>T (n.*255G>T) n.361G>T c.169G>T (p.Ala57Ser) c.1138G>T (p.Ala380Ser) c.1135G>T (p.Ala379Ser) c.1198G>T (p.Ala400Ser) n.147G>T c.187G>T (p.Ala63Ser) c.1132G>T (p.Ala378Ser) c.1084G>T (p.Ala362Ser) n.515G>T c.124G>T (p.Ala42Ser) c.-6G>T (n.-6G>T) | |
7 | g.44145615C>G | CA367398797 | GCK | c.*1133G>C (n.*1133G>C) c.*255G>C (n.*255G>C) n.361G>C c.169G>C (p.Ala57Pro) c.1138G>C (p.Ala380Pro) c.1135G>C (p.Ala379Pro) c.1198G>C (p.Ala400Pro) n.147G>C c.187G>C (p.Ala63Pro) c.1132G>C (p.Ala378Pro) c.1084G>C (p.Ala362Pro) n.515G>C c.124G>C (p.Ala42Pro) c.-6G>C (n.-6G>C) | |
7 | g.44145615C>T | CA367398799 | GCK | c.*1133G>A (n.*1133G>A) c.*255G>A (n.*255G>A) n.361G>A c.169G>A (p.Ala57Thr) c.1138G>A (p.Ala380Thr) c.1135G>A (p.Ala379Thr) c.1198G>A (p.Ala400Thr) n.147G>A c.187G>A (p.Ala63Thr) c.1132G>A (p.Ala378Thr) c.1084G>A (p.Ala362Thr) n.515G>A c.124G>A (p.Ala42Thr) c.-6G>A (n.-6G>A) | gnomAD v4 |
7 | g.44145616A= | CA1703612920 | GCK | c.*1132T= (n.*1132T=) c.*254T= (n.*254T=) n.360T= c.168T= (p.Ala56=) c.1137T= (p.Ala379=) c.1134T= (p.Ala378=) c.1197T= (p.Ala399=) n.146T= c.186T= (p.Ala62=) c.1131T= (p.Ala377=) c.1083T= (p.Ala361=) n.514T= c.123T= (p.Ala41=) c.-7T= (n.-7T=) | |
7 | g.44145616A>C | CA454863248 | GCK | c.*1132T>G (n.*1132T>G) c.*254T>G (n.*254T>G) n.360T>G c.168T>G (p.Ala56=) c.1137T>G (p.Ala379=) c.1134T>G (p.Ala378=) c.1197T>G (p.Ala399=) n.146T>G c.186T>G (p.Ala62=) c.1131T>G (p.Ala377=) c.1083T>G (p.Ala361=) n.514T>G c.123T>G (p.Ala41=) c.-7T>G (n.-7T>G) | |
7 | g.44145616A>G | CA454863250 | GCK | c.*1132T>C (n.*1132T>C) c.*254T>C (n.*254T>C) n.360T>C c.168T>C (p.Ala56=) c.1137T>C (p.Ala379=) c.1134T>C (p.Ala378=) c.1197T>C (p.Ala399=) n.146T>C c.186T>C (p.Ala62=) c.1131T>C (p.Ala377=) c.1083T>C (p.Ala361=) n.514T>C c.123T>C (p.Ala41=) c.-7T>C (n.-7T>C) | gnomAD v4 |
7 | g.44145616A>T | CA454863252 | GCK | c.*1132T>A (n.*1132T>A) c.*254T>A (n.*254T>A) n.360T>A c.168T>A (p.Ala56=) c.1137T>A (p.Ala379=) c.1134T>A (p.Ala378=) c.1197T>A (p.Ala399=) n.146T>A c.186T>A (p.Ala62=) c.1131T>A (p.Ala377=) c.1083T>A (p.Ala361=) n.514T>A c.123T>A (p.Ala41=) c.-7T>A (n.-7T>A) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.44145617G>A | CA341585 | GCK | c.*1131C>T (n.*1131C>T) c.*253C>T (n.*253C>T) n.359C>T c.167C>T (p.Ala56Val) c.1136C>T (p.Ala379Val) c.1133C>T (p.Ala378Val) c.1196C>T (p.Ala399Val) n.145C>T c.185C>T (p.Ala62Val) c.1130C>T (p.Ala377Val) c.1082C>T (p.Ala361Val) n.513C>T c.122C>T (p.Ala41Val) c.-8C>T (n.-8C>T) | ClinVar dbSNP |
7 | g.44145617G>C | CA367398802 | GCK | c.*1131C>G (n.*1131C>G) c.*253C>G (n.*253C>G) n.359C>G c.167C>G (p.Ala56Gly) c.1136C>G (p.Ala379Gly) c.1133C>G (p.Ala378Gly) c.1196C>G (p.Ala399Gly) n.145C>G c.185C>G (p.Ala62Gly) c.1130C>G (p.Ala377Gly) c.1082C>G (p.Ala361Gly) n.513C>G c.122C>G (p.Ala41Gly) c.-8C>G (n.-8C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145617G= | CA1703612921 | GCK | c.*1131C= (n.*1131C=) c.*253C= (n.*253C=) n.359C= c.167C= (p.Ala56=) c.1136C= (p.Ala379=) c.1133C= (p.Ala378=) c.1196C= (p.Ala399=) n.145C= c.185C= (p.Ala62=) c.1130C= (p.Ala377=) c.1082C= (p.Ala361=) n.513C= c.122C= (p.Ala41=) c.-8C= (n.-8C=) | |
7 | g.44145617G>T | CA367398804 | GCK | c.*1131C>A (n.*1131C>A) c.*253C>A (n.*253C>A) n.359C>A c.167C>A (p.Ala56Asp) c.1136C>A (p.Ala379Asp) c.1133C>A (p.Ala378Asp) c.1196C>A (p.Ala399Asp) n.145C>A c.185C>A (p.Ala62Asp) c.1130C>A (p.Ala377Asp) c.1082C>A (p.Ala361Asp) n.513C>A c.122C>A (p.Ala41Asp) c.-8C>A (n.-8C>A) | ClinVar |
7 | g.44145622_44145623del | CA2580612101 | GCK | c.*1130_*1131del (n.*1130_*1131del) c.*252_*253del (n.*252_*253del) n.358_359del c.166_167del (p.Ala56CysfsTer?) c.1135_1136del (p.Ala379CysfsTer?) c.1132_1133del (p.Ala378CysfsTer?) c.1195_1196del (p.Ala399CysfsTer?) n.144_145del c.184_185del (p.Ala62CysfsTer?) c.1129_1130del (p.Ala377CysfsTer?) c.1081_1082del (p.Ala361CysfsTer?) n.512_513del c.121_122del (p.Ala41CysfsTer?) c.-9_-8del (n.-9_-8del) | ClinVar |
7 | g.44145618C>A | CA367398806 | GCK | c.*1130G>T (n.*1130G>T) c.*252G>T (n.*252G>T) n.358G>T c.166G>T (p.Ala56Ser) c.1135G>T (p.Ala379Ser) c.1132G>T (p.Ala378Ser) c.1195G>T (p.Ala399Ser) n.144G>T c.184G>T (p.Ala62Ser) c.1129G>T (p.Ala377Ser) c.1081G>T (p.Ala361Ser) n.512G>T c.121G>T (p.Ala41Ser) c.-9G>T (n.-9G>T) | gnomAD v4 |
7 | g.44145618C= | CA1703612922 | GCK | c.*1130G= (n.*1130G=) c.*252G= (n.*252G=) n.358G= c.166G= (p.Ala56=) c.1135G= (p.Ala379=) c.1132G= (p.Ala378=) c.1195G= (p.Ala399=) n.144G= c.184G= (p.Ala62=) c.1129G= (p.Ala377=) c.1081G= (p.Ala361=) n.512G= c.121G= (p.Ala41=) c.-9G= (n.-9G=) | |
7 | g.44145618C>G | CA367398808 | GCK | c.*1130G>C (n.*1130G>C) c.*252G>C (n.*252G>C) n.358G>C c.166G>C (p.Ala56Pro) c.1135G>C (p.Ala379Pro) c.1132G>C (p.Ala378Pro) c.1195G>C (p.Ala399Pro) n.144G>C c.184G>C (p.Ala62Pro) c.1129G>C (p.Ala377Pro) c.1081G>C (p.Ala361Pro) n.512G>C c.121G>C (p.Ala41Pro) c.-9G>C (n.-9G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145618C>T | CA126216 | GCK | c.*1130G>A (n.*1130G>A) c.*252G>A (n.*252G>A) n.358G>A c.166G>A (p.Ala56Thr) c.1135G>A (p.Ala379Thr) c.1132G>A (p.Ala378Thr) c.1195G>A (p.Ala399Thr) n.144G>A c.184G>A (p.Ala62Thr) c.1129G>A (p.Ala377Thr) c.1081G>A (p.Ala361Thr) n.512G>A c.121G>A (p.Ala41Thr) c.-9G>A (n.-9G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145621_44145632del | CA2695203036 | GCK | c.*1119_*1130del (n.*1119_*1130del) c.*241_*252del (n.*241_*252del) n.347_358del c.155_166del (p.Val52_Arg55del) c.1124_1135del (p.Val375_Arg378del) c.1121_1132del (p.Val374_Arg377del) c.1184_1195del (p.Val395_Arg398del) n.133_144del c.173_184del (p.Val58_Arg61del) c.1118_1129del (p.Val373_Arg376del) c.1070_1081del (p.Val357_Arg360del) n.501_512del c.110_121del (p.Val37_Arg40del) c.-20_-9del (n.-20_-9del) | |
7 | g.44145619G>A | CA454863255 | GCK | c.*1129C>T (n.*1129C>T) c.*251C>T (n.*251C>T) n.357C>T c.165C>T (p.Arg55=) c.1134C>T (p.Arg378=) c.1131C>T (p.Arg377=) c.1194C>T (p.Arg398=) n.143C>T c.183C>T (p.Arg61=) c.1128C>T (p.Arg376=) c.1080C>T (p.Arg360=) n.511C>T c.120C>T (p.Arg40=) c.-10C>T (n.-10C>T) | dbSNP gnomAD v2 |
7 | g.44145619G>C | CA454863256 | GCK | c.*1129C>G (n.*1129C>G) c.*251C>G (n.*251C>G) n.357C>G c.165C>G (p.Arg55=) c.1134C>G (p.Arg378=) c.1131C>G (p.Arg377=) c.1194C>G (p.Arg398=) n.143C>G c.183C>G (p.Arg61=) c.1128C>G (p.Arg376=) c.1080C>G (p.Arg360=) n.511C>G c.120C>G (p.Arg40=) c.-10C>G (n.-10C>G) | |
7 | g.44145619G= | CA1703612923 | GCK | c.*1129C= (n.*1129C=) c.*251C= (n.*251C=) n.357C= c.165C= (p.Arg55=) c.1134C= (p.Arg378=) c.1131C= (p.Arg377=) c.1194C= (p.Arg398=) n.143C= c.183C= (p.Arg61=) c.1128C= (p.Arg376=) c.1080C= (p.Arg360=) n.511C= c.120C= (p.Arg40=) c.-10C= (n.-10C=) | |
7 | g.44145619G>T | CA454863257 | GCK | c.*1129C>A (n.*1129C>A) c.*251C>A (n.*251C>A) n.357C>A c.165C>A (p.Arg55=) c.1134C>A (p.Arg378=) c.1131C>A (p.Arg377=) c.1194C>A (p.Arg398=) n.143C>A c.183C>A (p.Arg61=) c.1128C>A (p.Arg376=) c.1080C>A (p.Arg360=) n.511C>A c.120C>A (p.Arg40=) c.-10C>A (n.-10C>A) | gnomAD v4 |
7 | g.44145620C>A | CA367398811 | GCK | c.*1128G>T (n.*1128G>T) c.*250G>T (n.*250G>T) n.356G>T c.164G>T (p.Arg55Leu) c.1133G>T (p.Arg378Leu) c.1130G>T (p.Arg377Leu) c.1193G>T (p.Arg398Leu) n.142G>T c.182G>T (p.Arg61Leu) c.1127G>T (p.Arg376Leu) c.1079G>T (p.Arg360Leu) n.510G>T c.119G>T (p.Arg40Leu) c.-11G>T (n.-11G>T) | ClinVar dbSNP |
7 | g.44145620C= | CA1703612924 | GCK | c.*1128G= (n.*1128G=) c.*250G= (n.*250G=) n.356G= c.164G= (p.Arg55=) c.1133G= (p.Arg378=) c.1130G= (p.Arg377=) c.1193G= (p.Arg398=) n.142G= c.182G= (p.Arg61=) c.1127G= (p.Arg376=) c.1079G= (p.Arg360=) n.510G= c.119G= (p.Arg40=) c.-11G= (n.-11G=) | |
7 | g.44145620C>G | CA367398812 | GCK | c.*1128G>C (n.*1128G>C) c.*250G>C (n.*250G>C) n.356G>C c.164G>C (p.Arg55Pro) c.1133G>C (p.Arg378Pro) c.1130G>C (p.Arg377Pro) c.1193G>C (p.Arg398Pro) n.142G>C c.182G>C (p.Arg61Pro) c.1127G>C (p.Arg376Pro) c.1079G>C (p.Arg360Pro) n.510G>C c.119G>C (p.Arg40Pro) c.-11G>C (n.-11G>C) | |
7 | g.44145620C>T | CA213715 | GCK | c.*1128G>A (n.*1128G>A) c.*250G>A (n.*250G>A) n.356G>A c.164G>A (p.Arg55His) c.1133G>A (p.Arg378His) c.1130G>A (p.Arg377His) c.1193G>A (p.Arg398His) n.142G>A c.182G>A (p.Arg61His) c.1127G>A (p.Arg376His) c.1079G>A (p.Arg360His) n.510G>A c.119G>A (p.Arg40His) c.-11G>A (n.-11G>A) | ClinVar dbSNP gnomAD v4 |
7 | g.44145621G>A | CA367398826 | GCK | c.*1127C>T (n.*1127C>T) c.*249C>T (n.*249C>T) n.355C>T c.163C>T (p.Arg55Cys) c.1132C>T (p.Arg378Cys) c.1129C>T (p.Arg377Cys) c.1192C>T (p.Arg398Cys) n.141C>T c.181C>T (p.Arg61Cys) c.1126C>T (p.Arg376Cys) c.1078C>T (p.Arg360Cys) n.509C>T c.118C>T (p.Arg40Cys) c.-12C>T (n.-12C>T) | ClinVar dbSNP gnomAD v2 |
7 | g.44145621G>C | CA367398817 | GCK | c.*1127C>G (n.*1127C>G) c.*249C>G (n.*249C>G) n.355C>G c.163C>G (p.Arg55Gly) c.1132C>G (p.Arg378Gly) c.1129C>G (p.Arg377Gly) c.1192C>G (p.Arg398Gly) n.141C>G c.181C>G (p.Arg61Gly) c.1126C>G (p.Arg376Gly) c.1078C>G (p.Arg360Gly) n.509C>G c.118C>G (p.Arg40Gly) c.-12C>G (n.-12C>G) | gnomAD v4 |
7 | g.44145621G= | CA1703612925 | GCK | c.*1127C= (n.*1127C=) c.*249C= (n.*249C=) n.355C= c.163C= (p.Arg55=) c.1132C= (p.Arg378=) c.1129C= (p.Arg377=) c.1192C= (p.Arg398=) n.141C= c.181C= (p.Arg61=) c.1126C= (p.Arg376=) c.1078C= (p.Arg360=) n.509C= c.118C= (p.Arg40=) c.-12C= (n.-12C=) | |
7 | g.44145621G>T | CA367398819 | GCK | c.*1127C>A (n.*1127C>A) c.*249C>A (n.*249C>A) n.355C>A c.163C>A (p.Arg55Ser) c.1132C>A (p.Arg378Ser) c.1129C>A (p.Arg377Ser) c.1192C>A (p.Arg398Ser) n.141C>A c.181C>A (p.Arg61Ser) c.1126C>A (p.Arg376Ser) c.1078C>A (p.Arg360Ser) n.509C>A c.118C>A (p.Arg40Ser) c.-12C>A (n.-12C>A) | ClinVar gnomAD v4 |
7 | g.44145622C>A | CA454863264 | GCK | c.*1126G>T (n.*1126G>T) c.*248G>T (n.*248G>T) n.354G>T c.162G>T (p.Thr54=) c.1131G>T (p.Thr377=) c.1128G>T (p.Thr376=) c.1191G>T (p.Thr397=) n.140G>T c.180G>T (p.Thr60=) c.1125G>T (p.Thr375=) c.1077G>T (p.Thr359=) n.508G>T c.117G>T (p.Thr39=) c.-13G>T (n.-13G>T) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145622C= | CA1703612926 | GCK | c.*1126G= (n.*1126G=) c.*248G= (n.*248G=) n.354G= c.162G= (p.Thr54=) c.1131G= (p.Thr377=) c.1128G= (p.Thr376=) c.1191G= (p.Thr397=) n.140G= c.180G= (p.Thr60=) c.1125G= (p.Thr375=) c.1077G= (p.Thr359=) n.508G= c.117G= (p.Thr39=) c.-13G= (n.-13G=) | |
7 | g.44145622C>G | CA454863265 | GCK | c.*1126G>C (n.*1126G>C) c.*248G>C (n.*248G>C) n.354G>C c.162G>C (p.Thr54=) c.1131G>C (p.Thr377=) c.1128G>C (p.Thr376=) c.1191G>C (p.Thr397=) n.140G>C c.180G>C (p.Thr60=) c.1125G>C (p.Thr375=) c.1077G>C (p.Thr359=) n.508G>C c.117G>C (p.Thr39=) c.-13G>C (n.-13G>C) | |
7 | g.44145622C>T | CA454863266 | GCK | c.*1126G>A (n.*1126G>A) c.*248G>A (n.*248G>A) n.354G>A c.162G>A (p.Thr54=) c.1131G>A (p.Thr377=) c.1128G>A (p.Thr376=) c.1191G>A (p.Thr397=) n.140G>A c.180G>A (p.Thr60=) c.1125G>A (p.Thr375=) c.1077G>A (p.Thr359=) n.508G>A c.117G>A (p.Thr39=) c.-13G>A (n.-13G>A) | gnomAD v4 |
7 | g.44145624_44145631del | CA2695203037 | GCK | c.*1119_*1126del (n.*1119_*1126del) c.*241_*248del (n.*241_*248del) n.347_354del c.155_162del (p.Val52AlafsTer?) c.1124_1131del (p.Val375AlafsTer?) c.1121_1128del (p.Val374AlafsTer?) c.1184_1191del (p.Val395AlafsTer?) n.133_140del c.173_180del (p.Val58AlafsTer?) c.1118_1125del (p.Val373AlafsTer?) c.1070_1077del (p.Val357AlafsTer?) n.501_508del c.110_117del (p.Val37AlafsTer?) c.-20_-13del (n.-20_-13del) | |
7 | g.44145622_44145623insT | CA2695203038 | GCK | c.*1125_*1126insA (n.*1125_*1126insA) c.*247_*248insA (n.*247_*248insA) n.353_354insA c.161_162insA (p.Arg55AlafsTer?) c.1130_1131insA (p.Arg378AlafsTer?) c.1127_1128insA (p.Arg377AlafsTer?) c.1190_1191insA (p.Arg398AlafsTer?) n.139_140insA c.179_180insA (p.Arg61AlafsTer?) c.1124_1125insA (p.Arg376AlafsTer?) c.1076_1077insA (p.Arg360AlafsTer?) n.507_508insA c.116_117insA (p.Arg40AlafsTer?) c.-14_-13insA (n.-14_-13insA) | |
7 | g.44145623G>A | CA367398829 | GCK | c.*1125C>T (n.*1125C>T) c.*247C>T (n.*247C>T) n.353C>T c.161C>T (p.Thr54Met) c.1130C>T (p.Thr377Met) c.1127C>T (p.Thr376Met) c.1190C>T (p.Thr397Met) n.139C>T c.179C>T (p.Thr60Met) c.1124C>T (p.Thr375Met) c.1076C>T (p.Thr359Met) n.507C>T c.116C>T (p.Thr39Met) c.-14C>T (n.-14C>T) | gnomAD v4 |
7 | g.44145623G>C | CA367398831 | GCK | c.*1125C>G (n.*1125C>G) c.*247C>G (n.*247C>G) n.353C>G c.161C>G (p.Thr54Arg) c.1130C>G (p.Thr377Arg) c.1127C>G (p.Thr376Arg) c.1190C>G (p.Thr397Arg) n.139C>G c.179C>G (p.Thr60Arg) c.1124C>G (p.Thr375Arg) c.1076C>G (p.Thr359Arg) n.507C>G c.116C>G (p.Thr39Arg) c.-14C>G (n.-14C>G) | |
7 | g.44145623G>T | CA367398834 | GCK | c.*1125C>A (n.*1125C>A) c.*247C>A (n.*247C>A) n.353C>A c.161C>A (p.Thr54Lys) c.1130C>A (p.Thr377Lys) c.1127C>A (p.Thr376Lys) c.1190C>A (p.Thr397Lys) n.139C>A c.179C>A (p.Thr60Lys) c.1124C>A (p.Thr375Lys) c.1076C>A (p.Thr359Lys) n.507C>A c.116C>A (p.Thr39Lys) c.-14C>A (n.-14C>A) | gnomAD v4 |
7 | g.44145624_44145626del | CA913187442 | GCK | c.*1123_*1125del (n.*1123_*1125del) c.*245_*247del (n.*245_*247del) n.351_353del c.159_161del (p.Thr54del) c.1128_1130del (p.Thr377del) c.1125_1127del (p.Thr376del) c.1188_1190del (p.Thr397del) n.137_139del c.177_179del (p.Thr60del) c.1122_1124del (p.Thr375del) c.1074_1076del (p.Thr359del) n.505_507del c.114_116del (p.Thr39del) c.-16_-14del (n.-16_-14del) | |
7 | g.44145624T>A | CA367398836 | GCK | c.*1124A>T (n.*1124A>T) c.*246A>T (n.*246A>T) n.352A>T c.160A>T (p.Thr54Ser) c.1129A>T (p.Thr377Ser) c.1126A>T (p.Thr376Ser) c.1189A>T (p.Thr397Ser) n.138A>T c.178A>T (p.Thr60Ser) c.1123A>T (p.Thr375Ser) c.1075A>T (p.Thr359Ser) n.506A>T c.115A>T (p.Thr39Ser) c.-15A>T (n.-15A>T) | |
7 | g.44145624T>C | CA367398838 | GCK | c.*1124A>G (n.*1124A>G) c.*246A>G (n.*246A>G) n.352A>G c.160A>G (p.Thr54Ala) c.1129A>G (p.Thr377Ala) c.1126A>G (p.Thr376Ala) c.1189A>G (p.Thr397Ala) n.138A>G c.178A>G (p.Thr60Ala) c.1123A>G (p.Thr375Ala) c.1075A>G (p.Thr359Ala) n.506A>G c.115A>G (p.Thr39Ala) c.-15A>G (n.-15A>G) | |
7 | g.44145624T>G | CA367398841 | GCK | c.*1124A>C (n.*1124A>C) c.*246A>C (n.*246A>C) n.352A>C c.160A>C (p.Thr54Pro) c.1129A>C (p.Thr377Pro) c.1126A>C (p.Thr376Pro) c.1189A>C (p.Thr397Pro) n.138A>C c.178A>C (p.Thr60Pro) c.1123A>C (p.Thr375Pro) c.1075A>C (p.Thr359Pro) n.506A>C c.115A>C (p.Thr39Pro) c.-15A>C (n.-15A>C) | |
7 | g.44145625A>C | CA454863267 | GCK | c.*1123T>G (n.*1123T>G) c.*245T>G (n.*245T>G) n.351T>G c.159T>G (p.Ser53=) c.1128T>G (p.Ser376=) c.1125T>G (p.Ser375=) c.1188T>G (p.Ser396=) n.137T>G c.177T>G (p.Ser59=) c.1122T>G (p.Ser374=) c.1074T>G (p.Ser358=) n.505T>G c.114T>G (p.Ser38=) c.-16T>G (n.-16T>G) | |
7 | g.44145625A>G | CA454863268 | GCK | c.*1123T>C (n.*1123T>C) c.*245T>C (n.*245T>C) n.351T>C c.159T>C (p.Ser53=) c.1128T>C (p.Ser376=) c.1125T>C (p.Ser375=) c.1188T>C (p.Ser396=) n.137T>C c.177T>C (p.Ser59=) c.1122T>C (p.Ser374=) c.1074T>C (p.Ser358=) n.505T>C c.114T>C (p.Ser38=) c.-16T>C (n.-16T>C) | |
7 | g.44145625A>T | CA454863269 | GCK | c.*1123T>A (n.*1123T>A) c.*245T>A (n.*245T>A) n.351T>A c.159T>A (p.Ser53=) c.1128T>A (p.Ser376=) c.1125T>A (p.Ser375=) c.1188T>A (p.Ser396=) n.137T>A c.177T>A (p.Ser59=) c.1122T>A (p.Ser374=) c.1074T>A (p.Ser358=) n.505T>A c.114T>A (p.Ser38=) c.-16T>A (n.-16T>A) | |
7 | g.44145626G>A | CA213713 | GCK | c.*1122C>T (n.*1122C>T) c.*244C>T (n.*244C>T) n.350C>T c.158C>T (p.Ser53Phe) c.1127C>T (p.Ser376Phe) c.1124C>T (p.Ser375Phe) c.1187C>T (p.Ser396Phe) n.136C>T c.176C>T (p.Ser59Phe) c.1121C>T (p.Ser374Phe) c.1073C>T (p.Ser358Phe) n.504C>T c.113C>T (p.Ser38Phe) c.-17C>T (n.-17C>T) | ClinVar dbSNP |
7 | g.44145626G>C | CA367398844 | GCK | c.*1122C>G (n.*1122C>G) c.*244C>G (n.*244C>G) n.350C>G c.158C>G (p.Ser53Cys) c.1127C>G (p.Ser376Cys) c.1124C>G (p.Ser375Cys) c.1187C>G (p.Ser396Cys) n.136C>G c.176C>G (p.Ser59Cys) c.1121C>G (p.Ser374Cys) c.1073C>G (p.Ser358Cys) n.504C>G c.113C>G (p.Ser38Cys) c.-17C>G (n.-17C>G) | |
7 | g.44145626G= | CA1703612927 | GCK | c.*1122C= (n.*1122C=) c.*244C= (n.*244C=) n.350C= c.158C= (p.Ser53=) c.1127C= (p.Ser376=) c.1124C= (p.Ser375=) c.1187C= (p.Ser396=) n.136C= c.176C= (p.Ser59=) c.1121C= (p.Ser374=) c.1073C= (p.Ser358=) n.504C= c.113C= (p.Ser38=) c.-17C= (n.-17C=) | |
7 | g.44145626G>T | CA367398843 | GCK | c.*1122C>A (n.*1122C>A) c.*244C>A (n.*244C>A) n.350C>A c.158C>A (p.Ser53Tyr) c.1127C>A (p.Ser376Tyr) c.1124C>A (p.Ser375Tyr) c.1187C>A (p.Ser396Tyr) n.136C>A c.176C>A (p.Ser59Tyr) c.1121C>A (p.Ser374Tyr) c.1073C>A (p.Ser358Tyr) n.504C>A c.113C>A (p.Ser38Tyr) c.-17C>A (n.-17C>A) | ClinVar gnomAD v4 |
7 | g.44145627A= | CA1703612928 | GCK | c.*1121T= (n.*1121T=) c.*243T= (n.*243T=) n.349T= c.157T= (p.Ser53=) c.1126T= (p.Ser376=) c.1123T= (p.Ser375=) c.1186T= (p.Ser396=) n.135T= c.175T= (p.Ser59=) c.1120T= (p.Ser374=) c.1072T= (p.Ser358=) n.503T= c.112T= (p.Ser38=) c.-18T= (n.-18T=) | |
7 | g.44145627A>C | CA367398849 | GCK | c.*1121T>G (n.*1121T>G) c.*243T>G (n.*243T>G) n.349T>G c.157T>G (p.Ser53Ala) c.1126T>G (p.Ser376Ala) c.1123T>G (p.Ser375Ala) c.1186T>G (p.Ser396Ala) n.135T>G c.175T>G (p.Ser59Ala) c.1120T>G (p.Ser374Ala) c.1072T>G (p.Ser358Ala) n.503T>G c.112T>G (p.Ser38Ala) c.-18T>G (n.-18T>G) | |
7 | g.44145627A>G | CA367398853 | GCK | c.*1121T>C (n.*1121T>C) c.*243T>C (n.*243T>C) n.349T>C c.157T>C (p.Ser53Pro) c.1126T>C (p.Ser376Pro) c.1123T>C (p.Ser375Pro) c.1186T>C (p.Ser396Pro) n.135T>C c.175T>C (p.Ser59Pro) c.1120T>C (p.Ser374Pro) c.1072T>C (p.Ser358Pro) n.503T>C c.112T>C (p.Ser38Pro) c.-18T>C (n.-18T>C) | ClinVar dbSNP |
7 | g.44145627A>T | CA367398856 | GCK | c.*1121T>A (n.*1121T>A) c.*243T>A (n.*243T>A) n.349T>A c.157T>A (p.Ser53Thr) c.1126T>A (p.Ser376Thr) c.1123T>A (p.Ser375Thr) c.1186T>A (p.Ser396Thr) n.135T>A c.175T>A (p.Ser59Thr) c.1120T>A (p.Ser374Thr) c.1072T>A (p.Ser358Thr) n.503T>A c.112T>A (p.Ser38Thr) c.-18T>A (n.-18T>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.44145628C>A | CA454863277 | GCK | c.*1120G>T (n.*1120G>T) c.*242G>T (n.*242G>T) n.348G>T c.156G>T (p.Val52=) c.1125G>T (p.Val375=) c.1122G>T (p.Val374=) c.1185G>T (p.Val395=) n.134G>T c.174G>T (p.Val58=) c.1119G>T (p.Val373=) c.1071G>T (p.Val357=) n.502G>T c.111G>T (p.Val37=) c.-19G>T (n.-19G>T) | gnomAD v4 |
7 | g.44145628C>G | CA454863278 | GCK | c.*1120G>C (n.*1120G>C) c.*242G>C (n.*242G>C) n.348G>C c.156G>C (p.Val52=) c.1125G>C (p.Val375=) c.1122G>C (p.Val374=) c.1185G>C (p.Val395=) n.134G>C c.174G>C (p.Val58=) c.1119G>C (p.Val373=) c.1071G>C (p.Val357=) n.502G>C c.111G>C (p.Val37=) c.-19G>C (n.-19G>C) | |
7 | g.44145628C>T | CA454863276 | GCK | c.*1120G>A (n.*1120G>A) c.*242G>A (n.*242G>A) n.348G>A c.156G>A (p.Val52=) c.1125G>A (p.Val375=) c.1122G>A (p.Val374=) c.1185G>A (p.Val395=) n.134G>A c.174G>A (p.Val58=) c.1119G>A (p.Val373=) c.1071G>A (p.Val357=) n.502G>A c.111G>A (p.Val37=) c.-19G>A (n.-19G>A) | |
7 | g.44145629A>C | CA367398863 | GCK | c.*1119T>G (n.*1119T>G) c.*241T>G (n.*241T>G) n.347T>G c.155T>G (p.Val52Gly) c.1124T>G (p.Val375Gly) c.1121T>G (p.Val374Gly) c.1184T>G (p.Val395Gly) n.133T>G c.173T>G (p.Val58Gly) c.1118T>G (p.Val373Gly) c.1070T>G (p.Val357Gly) n.501T>G c.110T>G (p.Val37Gly) c.-20T>G (n.-20T>G) | |
7 | g.44145629A>G | CA367398867 | GCK | c.*1119T>C (n.*1119T>C) c.*241T>C (n.*241T>C) n.347T>C c.155T>C (p.Val52Ala) c.1124T>C (p.Val375Ala) c.1121T>C (p.Val374Ala) c.1184T>C (p.Val395Ala) n.133T>C c.173T>C (p.Val58Ala) c.1118T>C (p.Val373Ala) c.1070T>C (p.Val357Ala) n.501T>C c.110T>C (p.Val37Ala) c.-20T>C (n.-20T>C) | |
7 | g.44145629A>T | CA367398869 | GCK | c.*1119T>A (n.*1119T>A) c.*241T>A (n.*241T>A) n.347T>A c.155T>A (p.Val52Glu) c.1124T>A (p.Val375Glu) c.1121T>A (p.Val374Glu) c.1184T>A (p.Val395Glu) n.133T>A c.173T>A (p.Val58Glu) c.1118T>A (p.Val373Glu) c.1070T>A (p.Val357Glu) n.501T>A c.110T>A (p.Val37Glu) c.-20T>A (n.-20T>A) | ClinVar gnomAD v4 |
7 | g.44145629dup | CA2695203039 | GCK | c.*1119dup (n.*1119dup) c.*241dup (n.*241dup) n.347dup c.155dup (p.Ser53ValfsTer?) c.1124dup (p.Ser376ValfsTer?) c.1121dup (p.Ser375ValfsTer?) c.1184dup (p.Ser396ValfsTer?) n.133dup c.173dup (p.Ser59ValfsTer?) c.1118dup (p.Ser374ValfsTer?) c.1070dup (p.Ser358ValfsTer?) n.501dup c.110dup (p.Ser38ValfsTer?) c.-20dup (n.-20dup) | |
7 | g.44145630C>A | CA367398872 | GCK | c.*1118G>T (n.*1118G>T) c.*240G>T (n.*240G>T) n.346G>T c.154G>T (p.Val52Leu) c.1123G>T (p.Val375Leu) c.1120G>T (p.Val374Leu) c.1183G>T (p.Val395Leu) n.132G>T c.172G>T (p.Val58Leu) c.1117G>T (p.Val373Leu) c.1069G>T (p.Val357Leu) n.500G>T c.109G>T (p.Val37Leu) c.-21G>T (n.-21G>T) | ClinVar dbSNP gnomAD v2 |
7 | g.44145630C= | CA1703612929 | GCK | c.*1118G= (n.*1118G=) c.*240G= (n.*240G=) n.346G= c.154G= (p.Val52=) c.1123G= (p.Val375=) c.1120G= (p.Val374=) c.1183G= (p.Val395=) n.132G= c.172G= (p.Val58=) c.1117G= (p.Val373=) c.1069G= (p.Val357=) n.500G= c.109G= (p.Val37=) c.-21G= (n.-21G=) | |
7 | g.44145630C>G | CA367398880 | GCK | c.*1118G>C (n.*1118G>C) c.*240G>C (n.*240G>C) n.346G>C c.154G>C (p.Val52Leu) c.1123G>C (p.Val375Leu) c.1120G>C (p.Val374Leu) c.1183G>C (p.Val395Leu) n.132G>C c.172G>C (p.Val58Leu) c.1117G>C (p.Val373Leu) c.1069G>C (p.Val357Leu) n.500G>C c.109G>C (p.Val37Leu) c.-21G>C (n.-21G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.44145630C>T | CA367398877 | GCK | c.*1118G>A (n.*1118G>A) c.*240G>A (n.*240G>A) n.346G>A c.154G>A (p.Val52Met) c.1123G>A (p.Val375Met) c.1120G>A (p.Val374Met) c.1183G>A (p.Val395Met) n.132G>A c.172G>A (p.Val58Met) c.1117G>A (p.Val373Met) c.1069G>A (p.Val357Met) n.500G>A c.109G>A (p.Val37Met) c.-21G>A (n.-21G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145631_44145632dup | CA2695203040 | GCK | c.*1117_*1118dup (n.*1117_*1118dup) c.*239_*240dup (n.*239_*240dup) n.345_346dup c.153_154dup (p.Val52AlafsTer29) c.1122_1123dup (p.Val375AlafsTer29) c.1119_1120dup (p.Val374AlafsTer29) c.1182_1183dup (p.Val395AlafsTer29) n.131_132dup c.171_172dup (p.Val58AlafsTer29) c.1116_1117dup (p.Val373AlafsTer29) c.1068_1069dup (p.Val357AlafsTer29) n.499_500dup c.108_109dup (p.Val37AlafsTer29) c.-22_-21dup (n.-22_-21dup) | |
7 | g.44145631G>A | CA454863282 | GCK | c.*1117C>T (n.*1117C>T) c.*239C>T (n.*239C>T) n.345C>T c.153C>T (p.Ser51=) c.1122C>T (p.Ser374=) c.1119C>T (p.Ser373=) c.1182C>T (p.Ser394=) n.131C>T c.171C>T (p.Ser57=) c.1116C>T (p.Ser372=) c.1068C>T (p.Ser356=) n.499C>T c.108C>T (p.Ser36=) c.-22C>T (n.-22C>T) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145631G>C | CA367398882 | GCK | c.*1117C>G (n.*1117C>G) c.*239C>G (n.*239C>G) n.345C>G c.153C>G (p.Ser51Arg) c.1122C>G (p.Ser374Arg) c.1119C>G (p.Ser373Arg) c.1182C>G (p.Ser394Arg) n.131C>G c.171C>G (p.Ser57Arg) c.1116C>G (p.Ser372Arg) c.1068C>G (p.Ser356Arg) n.499C>G c.108C>G (p.Ser36Arg) c.-22C>G (n.-22C>G) | dbSNP gnomAD v4 |
7 | g.44145631G= | CA1703612930 | GCK | c.*1117C= (n.*1117C=) c.*239C= (n.*239C=) n.345C= c.153C= (p.Ser51=) c.1122C= (p.Ser374=) c.1119C= (p.Ser373=) c.1182C= (p.Ser394=) n.131C= c.171C= (p.Ser57=) c.1116C= (p.Ser372=) c.1068C= (p.Ser356=) n.499C= c.108C= (p.Ser36=) c.-22C= (n.-22C=) | |
7 | g.44145631G>T | CA367398885 | GCK | c.*1117C>A (n.*1117C>A) c.*239C>A (n.*239C>A) n.345C>A c.153C>A (p.Ser51Arg) c.1122C>A (p.Ser374Arg) c.1119C>A (p.Ser373Arg) c.1182C>A (p.Ser394Arg) n.131C>A c.171C>A (p.Ser57Arg) c.1116C>A (p.Ser372Arg) c.1068C>A (p.Ser356Arg) n.499C>A c.108C>A (p.Ser36Arg) c.-22C>A (n.-22C>A) | dbSNP gnomAD v4 |
7 | g.44145632C>A | CA367398887 | GCK | c.*1116G>T (n.*1116G>T) c.*238G>T (n.*238G>T) n.344G>T c.152G>T (p.Ser51Ile) c.1121G>T (p.Ser374Ile) c.1118G>T (p.Ser373Ile) c.1181G>T (p.Ser394Ile) n.130G>T c.170G>T (p.Ser57Ile) c.1115G>T (p.Ser372Ile) c.1067G>T (p.Ser356Ile) n.498G>T c.107G>T (p.Ser36Ile) c.-23G>T (n.-23G>T) | |
7 | g.44145632C= | CA1703612931 | GCK | c.*1116G= (n.*1116G=) c.*238G= (n.*238G=) n.344G= c.152G= (p.Ser51=) c.1121G= (p.Ser374=) c.1118G= (p.Ser373=) c.1181G= (p.Ser394=) n.130G= c.170G= (p.Ser57=) c.1115G= (p.Ser372=) c.1067G= (p.Ser356=) n.498G= c.107G= (p.Ser36=) c.-23G= (n.-23G=) | |
7 | g.44145632C>G | CA4239428 | GCK | c.*1116G>C (n.*1116G>C) c.*238G>C (n.*238G>C) n.344G>C c.152G>C (p.Ser51Thr) c.1121G>C (p.Ser374Thr) c.1118G>C (p.Ser373Thr) c.1181G>C (p.Ser394Thr) n.130G>C c.170G>C (p.Ser57Thr) c.1115G>C (p.Ser372Thr) c.1067G>C (p.Ser356Thr) n.498G>C c.107G>C (p.Ser36Thr) c.-23G>C (n.-23G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44145632C>T | CA367398898 | GCK | c.*1116G>A (n.*1116G>A) c.*238G>A (n.*238G>A) n.344G>A c.152G>A (p.Ser51Asn) c.1121G>A (p.Ser374Asn) c.1118G>A (p.Ser373Asn) c.1181G>A (p.Ser394Asn) n.130G>A c.170G>A (p.Ser57Asn) c.1115G>A (p.Ser372Asn) c.1067G>A (p.Ser356Asn) n.498G>A c.107G>A (p.Ser36Asn) c.-23G>A (n.-23G>A) | |
7 | g.44145633T>A | CA367398901 | GCK | c.*1115A>T (n.*1115A>T) c.*237A>T (n.*237A>T) n.343A>T c.151A>T (p.Ser51Cys) c.1120A>T (p.Ser374Cys) c.1117A>T (p.Ser373Cys) c.1180A>T (p.Ser394Cys) n.129A>T c.169A>T (p.Ser57Cys) c.1114A>T (p.Ser372Cys) c.1066A>T (p.Ser356Cys) n.497A>T c.106A>T (p.Ser36Cys) c.-24A>T (n.-24A>T) | |
7 | g.44145633T>C | CA367398904 | GCK | c.*1115A>G (n.*1115A>G) c.*237A>G (n.*237A>G) n.343A>G c.151A>G (p.Ser51Gly) c.1120A>G (p.Ser374Gly) c.1117A>G (p.Ser373Gly) c.1180A>G (p.Ser394Gly) n.129A>G c.169A>G (p.Ser57Gly) c.1114A>G (p.Ser372Gly) c.1066A>G (p.Ser356Gly) n.497A>G c.106A>G (p.Ser36Gly) c.-24A>G (n.-24A>G) | |
7 | g.44145633T>G | CA367398906 | GCK | c.*1115A>C (n.*1115A>C) c.*237A>C (n.*237A>C) n.343A>C c.151A>C (p.Ser51Arg) c.1120A>C (p.Ser374Arg) c.1117A>C (p.Ser373Arg) c.1180A>C (p.Ser394Arg) n.129A>C c.169A>C (p.Ser57Arg) c.1114A>C (p.Ser372Arg) c.1066A>C (p.Ser356Arg) n.497A>C c.106A>C (p.Ser36Arg) c.-24A>C (n.-24A>C) | |
7 | g.44145634_44145654del | CA2695203042 | GCK | c.*1095_*1115del (n.*1095_*1115del) c.*217_*237del (n.*217_*237del) n.323_343del c.131_151del (p.Ile44_Glu50del) c.1100_1120del (p.Ile367_Glu373del) c.1097_1117del (p.Ile366_Glu372del) c.1160_1180del (p.Ile387_Glu393del) n.109_129del c.149_169del (p.Ile50_Glu56del) c.1094_1114del (p.Ile365_Glu371del) c.1046_1066del (p.Ile349_Glu355del) n.477_497del c.86_106del (p.Ile29_Glu35del) c.-44_-24del (n.-44_-24del) | |
7 | g.44145634C>A | CA367398909 | GCK | c.*1114G>T (n.*1114G>T) c.*236G>T (n.*236G>T) n.342G>T c.150G>T (p.Glu50Asp) c.1119G>T (p.Glu373Asp) c.1116G>T (p.Glu372Asp) c.1179G>T (p.Glu393Asp) n.128G>T c.168G>T (p.Glu56Asp) c.1113G>T (p.Glu371Asp) c.1065G>T (p.Glu355Asp) n.496G>T c.105G>T (p.Glu35Asp) c.-25G>T (n.-25G>T) | gnomAD v4 |
7 | g.44145634C= | CA1703612932 | GCK | c.*1114G= (n.*1114G=) c.*236G= (n.*236G=) n.342G= c.150G= (p.Glu50=) c.1119G= (p.Glu373=) c.1116G= (p.Glu372=) c.1179G= (p.Glu393=) n.128G= c.168G= (p.Glu56=) c.1113G= (p.Glu371=) c.1065G= (p.Glu355=) n.496G= c.105G= (p.Glu35=) c.-25G= (n.-25G=) | |
7 | g.44145634C>G | CA367398911 | GCK | c.*1114G>C (n.*1114G>C) c.*236G>C (n.*236G>C) n.342G>C c.150G>C (p.Glu50Asp) c.1119G>C (p.Glu373Asp) c.1116G>C (p.Glu372Asp) c.1179G>C (p.Glu393Asp) n.128G>C c.168G>C (p.Glu56Asp) c.1113G>C (p.Glu371Asp) c.1065G>C (p.Glu355Asp) n.496G>C c.105G>C (p.Glu35Asp) c.-25G>C (n.-25G>C) | gnomAD v4 |
7 | g.44145634C>T | CA4239429 | GCK | c.*1114G>A (n.*1114G>A) c.*236G>A (n.*236G>A) n.342G>A c.150G>A (p.Glu50=) c.1119G>A (p.Glu373=) c.1116G>A (p.Glu372=) c.1179G>A (p.Glu393=) n.128G>A c.168G>A (p.Glu56=) c.1113G>A (p.Glu371=) c.1065G>A (p.Glu355=) n.496G>A c.105G>A (p.Glu35=) c.-25G>A (n.-25G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44145635T>A | CA367398915 | GCK | c.*1113A>T (n.*1113A>T) c.*235A>T (n.*235A>T) n.341A>T c.149A>T (p.Glu50Val) c.1118A>T (p.Glu373Val) c.1115A>T (p.Glu372Val) c.1178A>T (p.Glu393Val) n.127A>T c.167A>T (p.Glu56Val) c.1112A>T (p.Glu371Val) c.1064A>T (p.Glu355Val) n.495A>T c.104A>T (p.Glu35Val) c.-26A>T (n.-26A>T) | |
7 | g.44145635T>C | CA367398919 | GCK | c.*1113A>G (n.*1113A>G) c.*235A>G (n.*235A>G) n.341A>G c.149A>G (p.Glu50Gly) c.1118A>G (p.Glu373Gly) c.1115A>G (p.Glu372Gly) c.1178A>G (p.Glu393Gly) n.127A>G c.167A>G (p.Glu56Gly) c.1112A>G (p.Glu371Gly) c.1064A>G (p.Glu355Gly) n.495A>G c.104A>G (p.Glu35Gly) c.-26A>G (n.-26A>G) | |
7 | g.44145635T>G | CA367398917 | GCK | c.*1113A>C (n.*1113A>C) c.*235A>C (n.*235A>C) n.341A>C c.149A>C (p.Glu50Ala) c.1118A>C (p.Glu373Ala) c.1115A>C (p.Glu372Ala) c.1178A>C (p.Glu393Ala) n.127A>C c.167A>C (p.Glu56Ala) c.1112A>C (p.Glu371Ala) c.1064A>C (p.Glu355Ala) n.495A>C c.104A>C (p.Glu35Ala) c.-26A>C (n.-26A>C) | |
7 | g.44145641_44145661del | CA2695203043 | GCK | c.*1093_*1113del (n.*1093_*1113del) c.*215_*235del (n.*215_*235del) n.321_341del c.129_149del (p.Asp43_Cys49del) c.1098_1118del (p.Asp366_Cys372del) c.1095_1115del (p.Asp365_Cys371del) c.1158_1178del (p.Asp386_Cys392del) n.107_127del c.147_167del (p.Asp49_Cys55del) c.1092_1112del (p.Asp364_Cys370del) c.1044_1064del (p.Asp348_Cys354del) n.475_495del c.84_104del (p.Asp28_Cys34del) c.-46_-26del (n.-46_-26del) | |
7 | g.44145636C>A | CA213711 | GCK | c.*1112G>T (n.*1112G>T) c.*234G>T (n.*234G>T) n.340G>T c.148G>T (p.Glu50Ter) c.1117G>T (p.Glu373Ter) c.1114G>T (p.Glu372Ter) c.1177G>T (p.Glu393Ter) n.126G>T c.166G>T (p.Glu56Ter) c.1111G>T (p.Glu371Ter) c.1063G>T (p.Glu355Ter) n.494G>T c.103G>T (p.Glu35Ter) c.-27G>T (n.-27G>T) | ClinVar dbSNP gnomAD v4 |
7 | g.44145636C= | CA1703612933 | GCK | c.*1112G= (n.*1112G=) c.*234G= (n.*234G=) n.340G= c.148G= (p.Glu50=) c.1117G= (p.Glu373=) c.1114G= (p.Glu372=) c.1177G= (p.Glu393=) n.126G= c.166G= (p.Glu56=) c.1111G= (p.Glu371=) c.1063G= (p.Glu355=) n.494G= c.103G= (p.Glu35=) c.-27G= (n.-27G=) | |
7 | g.44145636C>G | CA367398924 | GCK | c.*1112G>C (n.*1112G>C) c.*234G>C (n.*234G>C) n.340G>C c.148G>C (p.Glu50Gln) c.1117G>C (p.Glu373Gln) c.1114G>C (p.Glu372Gln) c.1177G>C (p.Glu393Gln) n.126G>C c.166G>C (p.Glu56Gln) c.1111G>C (p.Glu371Gln) c.1063G>C (p.Glu355Gln) n.494G>C c.103G>C (p.Glu35Gln) c.-27G>C (n.-27G>C) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145636C>T | CA367398922 | GCK | c.*1112G>A (n.*1112G>A) c.*234G>A (n.*234G>A) n.340G>A c.148G>A (p.Glu50Lys) c.1117G>A (p.Glu373Lys) c.1114G>A (p.Glu372Lys) c.1177G>A (p.Glu393Lys) n.126G>A c.166G>A (p.Glu56Lys) c.1111G>A (p.Glu371Lys) c.1063G>A (p.Glu355Lys) n.494G>A c.103G>A (p.Glu35Lys) c.-27G>A (n.-27G>A) | |
7 | g.44145637_44145638del | CA2695203044 | GCK | c.*1111_*1112del (n.*1111_*1112del) c.*233_*234del (n.*233_*234del) n.339_340del c.147_148del (p.Cys49Ter) c.1116_1117del (p.Cys372Ter) c.1113_1114del (p.Cys371Ter) c.1176_1177del (p.Cys392Ter) n.125_126del c.165_166del (p.Cys55Ter) c.1110_1111del (p.Cys370Ter) c.1062_1063del (p.Cys354Ter) n.493_494del c.102_103del (p.Cys34Ter) c.-28_-27del (n.-28_-27del) | |
7 | g.44145639_44145644dup | CA645372115 | GCK | c.*1107_*1112dup (n.*1107_*1112dup) c.*229_*234dup (n.*229_*234dup) n.335_340dup c.143_148dup (p.Cys49_Glu50insAlaCys) c.1112_1117dup (p.Cys372_Glu373insAlaCys) c.1109_1114dup (p.Cys371_Glu372insAlaCys) c.1172_1177dup (p.Cys392_Glu393insAlaCys) n.121_126dup c.161_166dup (p.Cys55_Glu56insAlaCys) c.1106_1111dup (p.Cys370_Glu371insAlaCys) c.1058_1063dup (p.Cys354_Glu355insAlaCys) n.489_494dup c.98_103dup (p.Cys34_Glu35insAlaCys) c.-32_-27dup (n.-32_-27dup) | |
7 | g.44145637G>A | CA4239430 | GCK | c.*1111C>T (n.*1111C>T) c.*233C>T (n.*233C>T) n.339C>T c.147C>T (p.Cys49=) c.1116C>T (p.Cys372=) c.1113C>T (p.Cys371=) c.1176C>T (p.Cys392=) n.125C>T c.165C>T (p.Cys55=) c.1110C>T (p.Cys370=) c.1062C>T (p.Cys354=) n.493C>T c.102C>T (p.Cys34=) c.-28C>T (n.-28C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44145637G>C | CA367398928 | GCK | c.*1111C>G (n.*1111C>G) c.*233C>G (n.*233C>G) n.339C>G c.147C>G (p.Cys49Trp) c.1116C>G (p.Cys372Trp) c.1113C>G (p.Cys371Trp) c.1176C>G (p.Cys392Trp) n.125C>G c.165C>G (p.Cys55Trp) c.1110C>G (p.Cys370Trp) c.1062C>G (p.Cys354Trp) n.493C>G c.102C>G (p.Cys34Trp) c.-28C>G (n.-28C>G) | ClinVar dbSNP |
7 | g.44145637G= | CA1703612934 | GCK | c.*1111C= (n.*1111C=) c.*233C= (n.*233C=) n.339C= c.147C= (p.Cys49=) c.1116C= (p.Cys372=) c.1113C= (p.Cys371=) c.1176C= (p.Cys392=) n.125C= c.165C= (p.Cys55=) c.1110C= (p.Cys370=) c.1062C= (p.Cys354=) n.493C= c.102C= (p.Cys34=) c.-28C= (n.-28C=) | |
7 | g.44145637G>T | CA367398930 | GCK | c.*1111C>A (n.*1111C>A) c.*233C>A (n.*233C>A) n.339C>A c.147C>A (p.Cys49Ter) c.1116C>A (p.Cys372Ter) c.1113C>A (p.Cys371Ter) c.1176C>A (p.Cys392Ter) n.125C>A c.165C>A (p.Cys55Ter) c.1110C>A (p.Cys370Ter) c.1062C>A (p.Cys354Ter) n.493C>A c.102C>A (p.Cys34Ter) c.-28C>A (n.-28C>A) | ClinVar dbSNP |
7 | g.44145638del | CA2695203045 | GCK | c.*1110del (n.*1110del) c.*232del (n.*232del) n.338del c.146del (p.Cys49SerfsTer?) c.1115del (p.Cys372SerfsTer?) c.1112del (p.Cys371SerfsTer?) c.1175del (p.Cys392SerfsTer?) n.124del c.164del (p.Cys55SerfsTer?) c.1109del (p.Cys370SerfsTer?) c.1061del (p.Cys354SerfsTer?) n.492del c.101del (p.Cys34SerfsTer?) c.-29del (n.-29del) | |
7 | g.44145638C>A | CA152950 | GCK | c.*1110G>T (n.*1110G>T) c.*232G>T (n.*232G>T) n.338G>T c.146G>T (p.Cys49Phe) c.1115G>T (p.Cys372Phe) c.1112G>T (p.Cys371Phe) c.1175G>T (p.Cys392Phe) n.124G>T c.164G>T (p.Cys55Phe) c.1109G>T (p.Cys370Phe) c.1061G>T (p.Cys354Phe) n.492G>T c.101G>T (p.Cys34Phe) c.-29G>T (n.-29G>T) | ClinVar dbSNP |
7 | g.44145638C= | CA1703612935 | GCK | c.*1110G= (n.*1110G=) c.*232G= (n.*232G=) n.338G= c.146G= (p.Cys49=) c.1115G= (p.Cys372=) c.1112G= (p.Cys371=) c.1175G= (p.Cys392=) n.124G= c.164G= (p.Cys55=) c.1109G= (p.Cys370=) c.1061G= (p.Cys354=) n.492G= c.101G= (p.Cys34=) c.-29G= (n.-29G=) | |
7 | g.44145638C>G | CA367398933 | GCK | c.*1110G>C (n.*1110G>C) c.*232G>C (n.*232G>C) n.338G>C c.146G>C (p.Cys49Ser) c.1115G>C (p.Cys372Ser) c.1112G>C (p.Cys371Ser) c.1175G>C (p.Cys392Ser) n.124G>C c.164G>C (p.Cys55Ser) c.1109G>C (p.Cys370Ser) c.1061G>C (p.Cys354Ser) n.492G>C c.101G>C (p.Cys34Ser) c.-29G>C (n.-29G>C) | |
7 | g.44145638C>T | CA367398935 | GCK | c.*1110G>A (n.*1110G>A) c.*232G>A (n.*232G>A) n.338G>A c.146G>A (p.Cys49Tyr) c.1115G>A (p.Cys372Tyr) c.1112G>A (p.Cys371Tyr) c.1175G>A (p.Cys392Tyr) n.124G>A c.164G>A (p.Cys55Tyr) c.1109G>A (p.Cys370Tyr) c.1061G>A (p.Cys354Tyr) n.492G>A c.101G>A (p.Cys34Tyr) c.-29G>A (n.-29G>A) | ClinVar dbSNP gnomAD v2 |
7 | g.44145639A>C | CA367398944 | GCK | c.*1109T>G (n.*1109T>G) c.*231T>G (n.*231T>G) n.337T>G c.145T>G (p.Cys49Gly) c.1114T>G (p.Cys372Gly) c.1111T>G (p.Cys371Gly) c.1174T>G (p.Cys392Gly) n.123T>G c.163T>G (p.Cys55Gly) c.1108T>G (p.Cys370Gly) c.1060T>G (p.Cys354Gly) n.491T>G c.100T>G (p.Cys34Gly) c.-30T>G (n.-30T>G) | ClinVar |
7 | g.44145639A>G | CA367398947 | GCK | c.*1109T>C (n.*1109T>C) c.*231T>C (n.*231T>C) n.337T>C c.145T>C (p.Cys49Arg) c.1114T>C (p.Cys372Arg) c.1111T>C (p.Cys371Arg) c.1174T>C (p.Cys392Arg) n.123T>C c.163T>C (p.Cys55Arg) c.1108T>C (p.Cys370Arg) c.1060T>C (p.Cys354Arg) n.491T>C c.100T>C (p.Cys34Arg) c.-30T>C (n.-30T>C) | ClinVar gnomAD v4 |
7 | g.44145639A>T | CA367398950 | GCK | c.*1109T>A (n.*1109T>A) c.*231T>A (n.*231T>A) n.337T>A c.145T>A (p.Cys49Ser) c.1114T>A (p.Cys372Ser) c.1111T>A (p.Cys371Ser) c.1174T>A (p.Cys392Ser) n.123T>A c.163T>A (p.Cys55Ser) c.1108T>A (p.Cys370Ser) c.1060T>A (p.Cys354Ser) n.491T>A c.100T>A (p.Cys34Ser) c.-30T>A (n.-30T>A) | |
7 | g.44145639_44145643dup | CA2695203046 | GCK | c.*1105_*1109dup (n.*1105_*1109dup) c.*227_*231dup (n.*227_*231dup) n.333_337dup c.141_145dup (p.Cys49SerfsTer?) c.1110_1114dup (p.Cys372SerfsTer?) c.1107_1111dup (p.Cys371SerfsTer?) c.1170_1174dup (p.Cys392SerfsTer?) n.119_123dup c.159_163dup (p.Cys55SerfsTer?) c.1104_1108dup (p.Cys370SerfsTer?) c.1056_1060dup (p.Cys354SerfsTer?) n.487_491dup c.96_100dup (p.Cys34SerfsTer?) c.-34_-30dup (n.-34_-30dup) | |
7 | g.44145640G>A | CA454863298 | GCK | c.*1108C>T (n.*1108C>T) c.*230C>T (n.*230C>T) n.336C>T c.144C>T (p.Ala48=) c.1113C>T (p.Ala371=) c.1110C>T (p.Ala370=) c.1173C>T (p.Ala391=) n.122C>T c.162C>T (p.Ala54=) c.1107C>T (p.Ala369=) c.1059C>T (p.Ala353=) n.490C>T c.99C>T (p.Ala33=) c.-31C>T (n.-31C>T) | |
7 | g.44145640G>C | CA454863300 | GCK | c.*1108C>G (n.*1108C>G) c.*230C>G (n.*230C>G) n.336C>G c.144C>G (p.Ala48=) c.1113C>G (p.Ala371=) c.1110C>G (p.Ala370=) c.1173C>G (p.Ala391=) n.122C>G c.162C>G (p.Ala54=) c.1107C>G (p.Ala369=) c.1059C>G (p.Ala353=) n.490C>G c.99C>G (p.Ala33=) c.-31C>G (n.-31C>G) | |
7 | g.44145640G>T | CA454863301 | GCK | c.*1108C>A (n.*1108C>A) c.*230C>A (n.*230C>A) n.336C>A c.144C>A (p.Ala48=) c.1113C>A (p.Ala371=) c.1110C>A (p.Ala370=) c.1173C>A (p.Ala391=) n.122C>A c.162C>A (p.Ala54=) c.1107C>A (p.Ala369=) c.1059C>A (p.Ala353=) n.490C>A c.99C>A (p.Ala33=) c.-31C>A (n.-31C>A) | gnomAD v4 |
7 | g.44145641G>A | CA367398952 | GCK | c.*1107C>T (n.*1107C>T) c.*229C>T (n.*229C>T) n.335C>T c.143C>T (p.Ala48Val) c.1112C>T (p.Ala371Val) c.1109C>T (p.Ala370Val) c.1172C>T (p.Ala391Val) n.121C>T c.161C>T (p.Ala54Val) c.1106C>T (p.Ala369Val) c.1058C>T (p.Ala353Val) n.489C>T c.98C>T (p.Ala33Val) c.-32C>T (n.-32C>T) | gnomAD v4 |
7 | g.44145641G>C | CA367398955 | GCK | c.*1107C>G (n.*1107C>G) c.*229C>G (n.*229C>G) n.335C>G c.143C>G (p.Ala48Gly) c.1112C>G (p.Ala371Gly) c.1109C>G (p.Ala370Gly) c.1172C>G (p.Ala391Gly) n.121C>G c.161C>G (p.Ala54Gly) c.1106C>G (p.Ala369Gly) c.1058C>G (p.Ala353Gly) n.489C>G c.98C>G (p.Ala33Gly) c.-32C>G (n.-32C>G) | |
7 | g.44145641G>T | CA367398957 | GCK | c.*1107C>A (n.*1107C>A) c.*229C>A (n.*229C>A) n.335C>A c.143C>A (p.Ala48Asp) c.1112C>A (p.Ala371Asp) c.1109C>A (p.Ala370Asp) c.1172C>A (p.Ala391Asp) n.121C>A c.161C>A (p.Ala54Asp) c.1106C>A (p.Ala369Asp) c.1058C>A (p.Ala353Asp) n.489C>A c.98C>A (p.Ala33Asp) c.-32C>A (n.-32C>A) | gnomAD v4 |
7 | g.44145642C>A | CA4239431 | GCK | c.*1106G>T (n.*1106G>T) c.*228G>T (n.*228G>T) n.334G>T c.142G>T (p.Ala48Ser) c.1111G>T (p.Ala371Ser) c.1108G>T (p.Ala370Ser) c.1171G>T (p.Ala391Ser) n.120G>T c.160G>T (p.Ala54Ser) c.1105G>T (p.Ala369Ser) c.1057G>T (p.Ala353Ser) n.488G>T c.97G>T (p.Ala33Ser) c.-33G>T (n.-33G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44145642C= | CA1703612936 | GCK | c.*1106G= (n.*1106G=) c.*228G= (n.*228G=) n.334G= c.142G= (p.Ala48=) c.1111G= (p.Ala371=) c.1108G= (p.Ala370=) c.1171G= (p.Ala391=) n.120G= c.160G= (p.Ala54=) c.1105G= (p.Ala369=) c.1057G= (p.Ala353=) n.488G= c.97G= (p.Ala33=) c.-33G= (n.-33G=) | |
7 | g.44145642C>G | CA367398963 | GCK | c.*1106G>C (n.*1106G>C) c.*228G>C (n.*228G>C) n.334G>C c.142G>C (p.Ala48Pro) c.1111G>C (p.Ala371Pro) c.1108G>C (p.Ala370Pro) c.1171G>C (p.Ala391Pro) n.120G>C c.160G>C (p.Ala54Pro) c.1105G>C (p.Ala369Pro) c.1057G>C (p.Ala353Pro) n.488G>C c.97G>C (p.Ala33Pro) c.-33G>C (n.-33G>C) | ClinVar |
7 | g.44145642C>T | CA367398961 | GCK | c.*1106G>A (n.*1106G>A) c.*228G>A (n.*228G>A) n.334G>A c.142G>A (p.Ala48Thr) c.1111G>A (p.Ala371Thr) c.1108G>A (p.Ala370Thr) c.1171G>A (p.Ala391Thr) n.120G>A c.160G>A (p.Ala54Thr) c.1105G>A (p.Ala369Thr) c.1057G>A (p.Ala353Thr) n.488G>A c.97G>A (p.Ala33Thr) c.-33G>A (n.-33G>A) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145643G>A | CA454863304 | GCK | c.*1105C>T (n.*1105C>T) c.*227C>T (n.*227C>T) n.333C>T c.141C>T (p.Arg47=) c.1110C>T (p.Arg370=) c.1107C>T (p.Arg369=) c.1170C>T (p.Arg390=) n.119C>T c.159C>T (p.Arg53=) c.1104C>T (p.Arg368=) c.1056C>T (p.Arg352=) n.487C>T c.96C>T (p.Arg32=) c.-34C>T (n.-34C>T) | gnomAD v4 |
7 | g.44145643G>C | CA454863305 | GCK | c.*1105C>G (n.*1105C>G) c.*227C>G (n.*227C>G) n.333C>G c.141C>G (p.Arg47=) c.1110C>G (p.Arg370=) c.1107C>G (p.Arg369=) c.1170C>G (p.Arg390=) n.119C>G c.159C>G (p.Arg53=) c.1104C>G (p.Arg368=) c.1056C>G (p.Arg352=) n.487C>G c.96C>G (p.Arg32=) c.-34C>G (n.-34C>G) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145643G= | CA1703612937 | GCK | c.*1105C= (n.*1105C=) c.*227C= (n.*227C=) n.333C= c.141C= (p.Arg47=) c.1110C= (p.Arg370=) c.1107C= (p.Arg369=) c.1170C= (p.Arg390=) n.119C= c.159C= (p.Arg53=) c.1104C= (p.Arg368=) c.1056C= (p.Arg352=) n.487C= c.96C= (p.Arg32=) c.-34C= (n.-34C=) | |
7 | g.44145643G>T | CA454863307 | GCK | c.*1105C>A (n.*1105C>A) c.*227C>A (n.*227C>A) n.333C>A c.141C>A (p.Arg47=) c.1110C>A (p.Arg370=) c.1107C>A (p.Arg369=) c.1170C>A (p.Arg390=) n.119C>A c.159C>A (p.Arg53=) c.1104C>A (p.Arg368=) c.1056C>A (p.Arg352=) n.487C>A c.96C>A (p.Arg32=) c.-34C>A (n.-34C>A) | gnomAD v4 |
7 | g.44145644C>A | CA367398966 | GCK | c.*1104G>T (n.*1104G>T) c.*226G>T (n.*226G>T) n.332G>T c.140G>T (p.Arg47Leu) c.1109G>T (p.Arg370Leu) c.1106G>T (p.Arg369Leu) c.1169G>T (p.Arg390Leu) n.118G>T c.158G>T (p.Arg53Leu) c.1103G>T (p.Arg368Leu) c.1055G>T (p.Arg352Leu) n.486G>T n.404G>T c.95G>T (p.Arg32Leu) c.-35G>T (n.-35G>T) | gnomAD v4 |
7 | g.44145644C= | CA1703612938 | GCK | c.*1104G= (n.*1104G=) c.*226G= (n.*226G=) n.332G= c.140G= (p.Arg47=) c.1109G= (p.Arg370=) c.1106G= (p.Arg369=) c.1169G= (p.Arg390=) n.118G= c.158G= (p.Arg53=) c.1103G= (p.Arg368=) c.1055G= (p.Arg352=) n.486G= n.404G= c.95G= (p.Arg32=) c.-35G= (n.-35G=) | |
7 | g.44145644C>G | CA367398967 | GCK | c.*1104G>C (n.*1104G>C) c.*226G>C (n.*226G>C) n.332G>C c.140G>C (p.Arg47Pro) c.1109G>C (p.Arg370Pro) c.1106G>C (p.Arg369Pro) c.1169G>C (p.Arg390Pro) n.118G>C c.158G>C (p.Arg53Pro) c.1103G>C (p.Arg368Pro) c.1055G>C (p.Arg352Pro) n.486G>C n.404G>C c.95G>C (p.Arg32Pro) c.-35G>C (n.-35G>C) | ClinVar |
7 | g.44145644C>T | CA367398969 | GCK | c.*1104G>A (n.*1104G>A) c.*226G>A (n.*226G>A) n.332G>A c.140G>A (p.Arg47His) c.1109G>A (p.Arg370His) c.1106G>A (p.Arg369His) c.1169G>A (p.Arg390His) n.118G>A c.158G>A (p.Arg53His) c.1103G>A (p.Arg368His) c.1055G>A (p.Arg352His) n.486G>A n.404G>A c.95G>A (p.Arg32His) c.-35G>A (n.-35G>A) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145645G>A | CA4239433 | GCK | c.*1103C>T (n.*1103C>T) c.*225C>T (n.*225C>T) n.331C>T c.139C>T (p.Arg47Cys) c.1108C>T (p.Arg370Cys) c.1105C>T (p.Arg369Cys) c.1168C>T (p.Arg390Cys) n.117C>T c.157C>T (p.Arg53Cys) c.1102C>T (p.Arg368Cys) c.1054C>T (p.Arg352Cys) n.485C>T n.403C>T c.94C>T (p.Arg32Cys) c.-36C>T (n.-36C>T) | dbSNP ExAC gnomAD v2 COSMIC COSMIC COSMIC |
7 | g.44145645G>C | CA4239432 | GCK | c.*1103C>G (n.*1103C>G) c.*225C>G (n.*225C>G) n.331C>G c.139C>G (p.Arg47Gly) c.1108C>G (p.Arg370Gly) c.1105C>G (p.Arg369Gly) c.1168C>G (p.Arg390Gly) n.117C>G c.157C>G (p.Arg53Gly) c.1102C>G (p.Arg368Gly) c.1054C>G (p.Arg352Gly) n.485C>G n.403C>G c.94C>G (p.Arg32Gly) c.-36C>G (n.-36C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.44145645G= | CA1703612939 | GCK | c.*1103C= (n.*1103C=) c.*225C= (n.*225C=) n.331C= c.139C= (p.Arg47=) c.1108C= (p.Arg370=) c.1105C= (p.Arg369=) c.1168C= (p.Arg390=) n.117C= c.157C= (p.Arg53=) c.1102C= (p.Arg368=) c.1054C= (p.Arg352=) n.485C= n.403C= c.94C= (p.Arg32=) c.-36C= (n.-36C=) | |
7 | g.44145645G>T | CA367398973 | GCK | c.*1103C>A (n.*1103C>A) c.*225C>A (n.*225C>A) n.331C>A c.139C>A (p.Arg47Ser) c.1108C>A (p.Arg370Ser) c.1105C>A (p.Arg369Ser) c.1168C>A (p.Arg390Ser) n.117C>A c.157C>A (p.Arg53Ser) c.1102C>A (p.Arg368Ser) c.1054C>A (p.Arg352Ser) n.485C>A n.403C>A c.94C>A (p.Arg32Ser) c.-36C>A (n.-36C>A) | dbSNP gnomAD v4 |
7 | g.44145646G>A | CA454863315 | GCK | c.*1102C>T (n.*1102C>T) c.*224C>T (n.*224C>T) n.330C>T c.138C>T (p.Arg46=) c.1107C>T (p.Arg369=) c.1104C>T (p.Arg368=) c.1167C>T (p.Arg389=) n.116C>T c.156C>T (p.Arg52=) c.1101C>T (p.Arg367=) c.1053C>T (p.Arg351=) n.484C>T n.402C>T c.93C>T (p.Arg31=) c.-37C>T (n.-37C>T) | gnomAD v4 |
7 | g.44145646G>C | CA454863317 | GCK | c.*1102C>G (n.*1102C>G) c.*224C>G (n.*224C>G) n.330C>G c.138C>G (p.Arg46=) c.1107C>G (p.Arg369=) c.1104C>G (p.Arg368=) c.1167C>G (p.Arg389=) n.116C>G c.156C>G (p.Arg52=) c.1101C>G (p.Arg367=) c.1053C>G (p.Arg351=) n.484C>G n.402C>G c.93C>G (p.Arg31=) c.-37C>G (n.-37C>G) | |
7 | g.44145646G>T | CA454863318 | GCK | c.*1102C>A (n.*1102C>A) c.*224C>A (n.*224C>A) n.330C>A c.138C>A (p.Arg46=) c.1107C>A (p.Arg369=) c.1104C>A (p.Arg368=) c.1167C>A (p.Arg389=) n.116C>A c.156C>A (p.Arg52=) c.1101C>A (p.Arg367=) c.1053C>A (p.Arg351=) n.484C>A n.402C>A c.93C>A (p.Arg31=) c.-37C>A (n.-37C>A) | gnomAD v4 |
7 | g.44145647C>A | CA367398976 | GCK | c.*1101G>T (n.*1101G>T) c.*223G>T (n.*223G>T) n.329G>T c.137G>T (p.Arg46Leu) c.1106G>T (p.Arg369Leu) c.1103G>T (p.Arg368Leu) c.1166G>T (p.Arg389Leu) n.115G>T c.155G>T (p.Arg52Leu) c.1100G>T (p.Arg367Leu) c.1052G>T (p.Arg351Leu) n.483G>T n.401G>T c.92G>T (p.Arg31Leu) c.-38G>T (n.-38G>T) | |
7 | g.44145647C>G | CA367398978 | GCK | c.*1101G>C (n.*1101G>C) c.*223G>C (n.*223G>C) n.329G>C c.137G>C (p.Arg46Pro) c.1106G>C (p.Arg369Pro) c.1103G>C (p.Arg368Pro) c.1166G>C (p.Arg389Pro) n.115G>C c.155G>C (p.Arg52Pro) c.1100G>C (p.Arg367Pro) c.1052G>C (p.Arg351Pro) n.483G>C n.401G>C c.92G>C (p.Arg31Pro) c.-38G>C (n.-38G>C) | |
7 | g.44145647C>T | CA367398980 | GCK | c.*1101G>A (n.*1101G>A) c.*223G>A (n.*223G>A) n.329G>A c.137G>A (p.Arg46His) c.1106G>A (p.Arg369His) c.1103G>A (p.Arg368His) c.1166G>A (p.Arg389His) n.115G>A c.155G>A (p.Arg52His) c.1100G>A (p.Arg367His) c.1052G>A (p.Arg351His) n.483G>A n.401G>A c.92G>A (p.Arg31His) c.-38G>A (n.-38G>A) | gnomAD v4 |
7 | g.44145648_44145683del | CA2695203047 | GCK | c.*1066_*1101del (n.*1066_*1101del) c.*188_*223del (n.*188_*223del) n.294_329del c.102_137del (p.Leu35_Arg46del) c.1071_1106del (p.Leu358_Arg369del) c.1068_1103del (p.Leu357_Arg368del) c.1131_1166del (p.Leu378_Arg389del) n.80_115del c.120_155del (p.Leu41_Arg52del) c.1065_1100del (p.Leu356_Arg367del) c.1017_1052del (p.Leu340_Arg351del) n.448_483del n.366_401del c.57_92del (p.Leu20_Arg31del) c.-73_-38del (n.-73_-38del) | |
7 | g.44145648G>A | CA367398984 | GCK | c.*1100C>T (n.*1100C>T) c.*222C>T (n.*222C>T) n.328C>T c.136C>T (p.Arg46Cys) c.1105C>T (p.Arg369Cys) c.1102C>T (p.Arg368Cys) c.1165C>T (p.Arg389Cys) n.114C>T c.154C>T (p.Arg52Cys) c.1099C>T (p.Arg367Cys) c.1051C>T (p.Arg351Cys) n.482C>T n.400C>T c.91C>T (p.Arg31Cys) c.-39C>T (n.-39C>T) | gnomAD v4 |
7 | g.44145648G>C | CA367398986 | GCK | c.*1100C>G (n.*1100C>G) c.*222C>G (n.*222C>G) n.328C>G c.136C>G (p.Arg46Gly) c.1105C>G (p.Arg369Gly) c.1102C>G (p.Arg368Gly) c.1165C>G (p.Arg389Gly) n.114C>G c.154C>G (p.Arg52Gly) c.1099C>G (p.Arg367Gly) c.1051C>G (p.Arg351Gly) n.482C>G n.400C>G c.91C>G (p.Arg31Gly) c.-39C>G (n.-39C>G) | dbSNP |
7 | g.44145648G= | CA1703612940 | GCK | c.*1100C= (n.*1100C=) c.*222C= (n.*222C=) n.328C= c.136C= (p.Arg46=) c.1105C= (p.Arg369=) c.1102C= (p.Arg368=) c.1165C= (p.Arg389=) n.114C= c.154C= (p.Arg52=) c.1099C= (p.Arg367=) c.1051C= (p.Arg351=) n.482C= n.400C= c.91C= (p.Arg31=) c.-39C= (n.-39C=) | |
7 | g.44145648G>T | CA367398982 | GCK | c.*1100C>A (n.*1100C>A) c.*222C>A (n.*222C>A) n.328C>A c.136C>A (p.Arg46Ser) c.1105C>A (p.Arg369Ser) c.1102C>A (p.Arg368Ser) c.1165C>A (p.Arg389Ser) n.114C>A c.154C>A (p.Arg52Ser) c.1099C>A (p.Arg367Ser) c.1051C>A (p.Arg351Ser) n.482C>A n.400C>A c.91C>A (p.Arg31Ser) c.-39C>A (n.-39C>A) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145649C>A | CA454863041 | GCK | c.*1099G>T (n.*1099G>T) c.*221G>T (n.*221G>T) n.327G>T c.135G>T (p.Val45=) c.1104G>T (p.Val368=) c.1101G>T (p.Val367=) c.1164G>T (p.Val388=) n.113G>T c.153G>T (p.Val51=) c.1098G>T (p.Val366=) c.1050G>T (p.Val350=) n.481G>T n.399G>T c.90G>T (p.Val30=) c.-40G>T (n.-40G>T) | |
7 | g.44145649C= | CA1703612941 | GCK | c.*1099G= (n.*1099G=) c.*221G= (n.*221G=) n.327G= c.135G= (p.Val45=) c.1104G= (p.Val368=) c.1101G= (p.Val367=) c.1164G= (p.Val388=) n.113G= c.153G= (p.Val51=) c.1098G= (p.Val366=) c.1050G= (p.Val350=) n.481G= n.399G= c.90G= (p.Val30=) c.-40G= (n.-40G=) | |
7 | g.44145649C>G | CA454863043 | GCK | c.*1099G>C (n.*1099G>C) c.*221G>C (n.*221G>C) n.327G>C c.135G>C (p.Val45=) c.1104G>C (p.Val368=) c.1101G>C (p.Val367=) c.1164G>C (p.Val388=) n.113G>C c.153G>C (p.Val51=) c.1098G>C (p.Val366=) c.1050G>C (p.Val350=) n.481G>C n.399G>C c.90G>C (p.Val30=) c.-40G>C (n.-40G>C) | dbSNP |
7 | g.44145649C>T | CA454863042 | GCK | c.*1099G>A (n.*1099G>A) c.*221G>A (n.*221G>A) n.327G>A c.135G>A (p.Val45=) c.1104G>A (p.Val368=) c.1101G>A (p.Val367=) c.1164G>A (p.Val388=) n.113G>A c.153G>A (p.Val51=) c.1098G>A (p.Val366=) c.1050G>A (p.Val350=) n.481G>A n.399G>A c.90G>A (p.Val30=) c.-40G>A (n.-40G>A) | |
7 | g.44145650A>C | CA367398987 | GCK | c.*1098T>G (n.*1098T>G) c.*220T>G (n.*220T>G) n.326T>G c.134T>G (p.Val45Gly) c.1103T>G (p.Val368Gly) c.1100T>G (p.Val367Gly) c.1163T>G (p.Val388Gly) n.112T>G c.152T>G (p.Val51Gly) c.1097T>G (p.Val366Gly) c.1049T>G (p.Val350Gly) n.480T>G n.398T>G c.89T>G (p.Val30Gly) c.-41T>G (n.-41T>G) | |
7 | g.44145650A>G | CA367398990 | GCK | c.*1098T>C (n.*1098T>C) c.*220T>C (n.*220T>C) n.326T>C c.134T>C (p.Val45Ala) c.1103T>C (p.Val368Ala) c.1100T>C (p.Val367Ala) c.1163T>C (p.Val388Ala) n.112T>C c.152T>C (p.Val51Ala) c.1097T>C (p.Val366Ala) c.1049T>C (p.Val350Ala) n.480T>C n.398T>C c.89T>C (p.Val30Ala) c.-41T>C (n.-41T>C) | |
7 | g.44145650A>T | CA367398993 | GCK | c.*1098T>A (n.*1098T>A) c.*220T>A (n.*220T>A) n.326T>A c.134T>A (p.Val45Glu) c.1103T>A (p.Val368Glu) c.1100T>A (p.Val367Glu) c.1163T>A (p.Val388Glu) n.112T>A c.152T>A (p.Val51Glu) c.1097T>A (p.Val366Glu) c.1049T>A (p.Val350Glu) n.480T>A n.398T>A c.89T>A (p.Val30Glu) c.-41T>A (n.-41T>A) | |
7 | g.44145651C>A | CA367398995 | GCK | c.*1097G>T (n.*1097G>T) c.*219G>T (n.*219G>T) n.325G>T c.133G>T (p.Val45Leu) c.1102G>T (p.Val368Leu) c.1099G>T (p.Val367Leu) c.1162G>T (p.Val388Leu) n.111G>T c.151G>T (p.Val51Leu) c.1096G>T (p.Val366Leu) c.1048G>T (p.Val350Leu) n.479G>T n.397G>T c.88G>T (p.Val30Leu) c.-42G>T (n.-42G>T) | ClinVar |
7 | g.44145651C= | CA1703612942 | GCK | c.*1097G= (n.*1097G=) c.*219G= (n.*219G=) n.325G= c.133G= (p.Val45=) c.1102G= (p.Val368=) c.1099G= (p.Val367=) c.1162G= (p.Val388=) n.111G= c.151G= (p.Val51=) c.1096G= (p.Val366=) c.1048G= (p.Val350=) n.479G= n.397G= c.88G= (p.Val30=) c.-42G= (n.-42G=) | |
7 | g.44145651C>G | CA367398997 | GCK | c.*1097G>C (n.*1097G>C) c.*219G>C (n.*219G>C) n.325G>C c.133G>C (p.Val45Leu) c.1102G>C (p.Val368Leu) c.1099G>C (p.Val367Leu) c.1162G>C (p.Val388Leu) n.111G>C c.151G>C (p.Val51Leu) c.1096G>C (p.Val366Leu) c.1048G>C (p.Val350Leu) n.479G>C n.397G>C c.88G>C (p.Val30Leu) c.-42G>C (n.-42G>C) | |
7 | g.44145651C>T | CA16605802 | GCK | c.*1097G>A (n.*1097G>A) c.*219G>A (n.*219G>A) n.325G>A c.133G>A (p.Val45Met) c.1102G>A (p.Val368Met) c.1099G>A (p.Val367Met) c.1162G>A (p.Val388Met) n.111G>A c.151G>A (p.Val51Met) c.1096G>A (p.Val366Met) c.1048G>A (p.Val350Met) n.479G>A n.397G>A c.88G>A (p.Val30Met) c.-42G>A (n.-42G>A) | ClinVar dbSNP gnomAD v4 |
7 | g.44145652G>A | CA454863044 | GCK | c.*1096C>T (n.*1096C>T) c.*218C>T (n.*218C>T) n.324C>T c.132C>T (p.Ile44=) c.1101C>T (p.Ile367=) c.1098C>T (p.Ile366=) c.1161C>T (p.Ile387=) n.110C>T c.150C>T (p.Ile50=) c.1095C>T (p.Ile365=) c.1047C>T (p.Ile349=) n.478C>T n.396C>T c.87C>T (p.Ile29=) c.-43C>T (n.-43C>T) | ClinVar dbSNP gnomAD v4 |
7 | g.44145652G>C | CA367399000 | GCK | c.*1096C>G (n.*1096C>G) c.*218C>G (n.*218C>G) n.324C>G c.132C>G (p.Ile44Met) c.1101C>G (p.Ile367Met) c.1098C>G (p.Ile366Met) c.1161C>G (p.Ile387Met) n.110C>G c.150C>G (p.Ile50Met) c.1095C>G (p.Ile365Met) c.1047C>G (p.Ile349Met) n.478C>G n.396C>G c.87C>G (p.Ile29Met) c.-43C>G (n.-43C>G) | gnomAD v4 |
7 | g.44145652G>T | CA454863045 | GCK | c.*1096C>A (n.*1096C>A) c.*218C>A (n.*218C>A) n.324C>A c.132C>A (p.Ile44=) c.1101C>A (p.Ile367=) c.1098C>A (p.Ile366=) c.1161C>A (p.Ile387=) n.110C>A c.150C>A (p.Ile50=) c.1095C>A (p.Ile365=) c.1047C>A (p.Ile349=) n.478C>A n.396C>A c.87C>A (p.Ile29=) c.-43C>A (n.-43C>A) | gnomAD v4 |
7 | g.44145653A>C | CA367399003 | GCK | c.*1095T>G (n.*1095T>G) c.*217T>G (n.*217T>G) n.323T>G c.131T>G (p.Ile44Ser) c.1100T>G (p.Ile367Ser) c.1097T>G (p.Ile366Ser) c.1160T>G (p.Ile387Ser) n.109T>G c.149T>G (p.Ile50Ser) c.1094T>G (p.Ile365Ser) c.1046T>G (p.Ile349Ser) n.477T>G n.395T>G c.86T>G (p.Ile29Ser) c.-44T>G (n.-44T>G) | |
7 | g.44145653A>G | CA367399005 | GCK | c.*1095T>C (n.*1095T>C) c.*217T>C (n.*217T>C) n.323T>C c.131T>C (p.Ile44Thr) c.1100T>C (p.Ile367Thr) c.1097T>C (p.Ile366Thr) c.1160T>C (p.Ile387Thr) n.109T>C c.149T>C (p.Ile50Thr) c.1094T>C (p.Ile365Thr) c.1046T>C (p.Ile349Thr) n.477T>C n.395T>C c.86T>C (p.Ile29Thr) c.-44T>C (n.-44T>C) | |
7 | g.44145653A>T | CA367399008 | GCK | c.*1095T>A (n.*1095T>A) c.*217T>A (n.*217T>A) n.323T>A c.131T>A (p.Ile44Asn) c.1100T>A (p.Ile367Asn) c.1097T>A (p.Ile366Asn) c.1160T>A (p.Ile387Asn) n.109T>A c.149T>A (p.Ile50Asn) c.1094T>A (p.Ile365Asn) c.1046T>A (p.Ile349Asn) n.477T>A n.395T>A c.86T>A (p.Ile29Asn) c.-44T>A (n.-44T>A) | |
7 | g.44145654T>A | CA367399011 | GCK | c.*1094A>T (n.*1094A>T) c.*216A>T (n.*216A>T) n.322A>T c.130A>T (p.Ile44Phe) c.1099A>T (p.Ile367Phe) c.1096A>T (p.Ile366Phe) c.1159A>T (p.Ile387Phe) n.108A>T c.148A>T (p.Ile50Phe) c.1093A>T (p.Ile365Phe) c.1045A>T (p.Ile349Phe) n.476A>T n.394A>T c.85A>T (p.Ile29Phe) c.-45A>T (n.-45A>T) | |
7 | g.44145654T>C | CA367399014 | GCK | c.*1094A>G (n.*1094A>G) c.*216A>G (n.*216A>G) n.322A>G c.130A>G (p.Ile44Val) c.1099A>G (p.Ile367Val) c.1096A>G (p.Ile366Val) c.1159A>G (p.Ile387Val) n.108A>G c.148A>G (p.Ile50Val) c.1093A>G (p.Ile365Val) c.1045A>G (p.Ile349Val) n.476A>G n.394A>G c.85A>G (p.Ile29Val) c.-45A>G (n.-45A>G) | |
7 | g.44145654T>G | CA367399016 | GCK | c.*1094A>C (n.*1094A>C) c.*216A>C (n.*216A>C) n.322A>C c.130A>C (p.Ile44Leu) c.1099A>C (p.Ile367Leu) c.1096A>C (p.Ile366Leu) c.1159A>C (p.Ile387Leu) n.108A>C c.148A>C (p.Ile50Leu) c.1093A>C (p.Ile365Leu) c.1045A>C (p.Ile349Leu) n.476A>C n.394A>C c.85A>C (p.Ile29Leu) c.-45A>C (n.-45A>C) | |
7 | g.44145655G>A | CA454863046 | GCK | c.*1093C>T (n.*1093C>T) c.*215C>T (n.*215C>T) n.321C>T c.129C>T (p.Asp43=) c.1098C>T (p.Asp366=) c.1095C>T (p.Asp365=) c.1158C>T (p.Asp386=) n.107C>T c.147C>T (p.Asp49=) c.1092C>T (p.Asp364=) c.1044C>T (p.Asp348=) n.475C>T n.393C>T c.84C>T (p.Asp28=) c.-46C>T (n.-46C>T) | |
7 | g.44145655G>C | CA367399022 | GCK | c.*1093C>G (n.*1093C>G) c.*215C>G (n.*215C>G) n.321C>G c.129C>G (p.Asp43Glu) c.1098C>G (p.Asp366Glu) c.1095C>G (p.Asp365Glu) c.1158C>G (p.Asp386Glu) n.107C>G c.147C>G (p.Asp49Glu) c.1092C>G (p.Asp364Glu) c.1044C>G (p.Asp348Glu) n.475C>G n.393C>G c.84C>G (p.Asp28Glu) c.-46C>G (n.-46C>G) | |
7 | g.44145655G>T | CA367399021 | GCK | c.*1093C>A (n.*1093C>A) c.*215C>A (n.*215C>A) n.321C>A c.129C>A (p.Asp43Glu) c.1098C>A (p.Asp366Glu) c.1095C>A (p.Asp365Glu) c.1158C>A (p.Asp386Glu) n.107C>A c.147C>A (p.Asp49Glu) c.1092C>A (p.Asp364Glu) c.1044C>A (p.Asp348Glu) n.475C>A n.393C>A c.84C>A (p.Asp28Glu) c.-46C>A (n.-46C>A) | gnomAD v4 |
7 | g.44145659_44145660insTCGTCGC | CA2695203048 | GCK | c.*1093_*1094insGAGCGAC (n.*1093_*1094insGAGCGAC) c.*215_*216insGAGCGAC (n.*215_*216insGAGCGAC) n.321_322insGAGCGAC c.129_130insGAGCGAC (p.Ile44GlufsTer?) c.1098_1099insGAGCGAC (p.Ile367GlufsTer?) c.1095_1096insGAGCGAC (p.Ile366GlufsTer?) c.1158_1159insGAGCGAC (p.Ile387GlufsTer?) n.107_108insGAGCGAC c.147_148insGAGCGAC (p.Ile50GlufsTer?) c.1092_1093insGAGCGAC (p.Ile365GlufsTer?) c.1044_1045insGAGCGAC (p.Ile349GlufsTer?) n.475_476insGAGCGAC n.393_394insGAGCGAC c.84_85insGAGCGAC (p.Ile29GlufsTer?) c.-46_-45insGAGCGAC (n.-46_-45insGAGCGAC) | |
7 | g.44145656T>A | CA367399024 | GCK | c.*1092A>T (n.*1092A>T) c.*214A>T (n.*214A>T) n.320A>T c.128A>T (p.Asp43Val) c.1097A>T (p.Asp366Val) c.1094A>T (p.Asp365Val) c.1157A>T (p.Asp386Val) n.106A>T c.146A>T (p.Asp49Val) c.1091A>T (p.Asp364Val) c.1043A>T (p.Asp348Val) n.474A>T n.392A>T c.83A>T (p.Asp28Val) c.-47A>T (n.-47A>T) | |
7 | g.44145656T>C | CA367399025 | GCK | c.*1092A>G (n.*1092A>G) c.*214A>G (n.*214A>G) n.320A>G c.128A>G (p.Asp43Gly) c.1097A>G (p.Asp366Gly) c.1094A>G (p.Asp365Gly) c.1157A>G (p.Asp386Gly) n.106A>G c.146A>G (p.Asp49Gly) c.1091A>G (p.Asp364Gly) c.1043A>G (p.Asp348Gly) n.474A>G n.392A>G c.83A>G (p.Asp28Gly) c.-47A>G (n.-47A>G) | |
7 | g.44145656T>G | CA367399028 | GCK | c.*1092A>C (n.*1092A>C) c.*214A>C (n.*214A>C) n.320A>C c.128A>C (p.Asp43Ala) c.1097A>C (p.Asp366Ala) c.1094A>C (p.Asp365Ala) c.1157A>C (p.Asp386Ala) n.106A>C c.146A>C (p.Asp49Ala) c.1091A>C (p.Asp364Ala) c.1043A>C (p.Asp348Ala) n.474A>C n.392A>C c.83A>C (p.Asp28Ala) c.-47A>C (n.-47A>C) | |
7 | g.44145656_44145659dup | CA2695203049 | GCK | c.*1089_*1092dup (n.*1089_*1092dup) c.*211_*214dup (n.*211_*214dup) n.317_320dup c.125_128dup (p.Asp43GlufsTer?) c.1094_1097dup (p.Asp366GlufsTer?) c.1091_1094dup (p.Asp365GlufsTer?) c.1154_1157dup (p.Asp386GlufsTer?) n.103_106dup c.143_146dup (p.Asp49GlufsTer?) c.1088_1091dup (p.Asp364GlufsTer?) c.1040_1043dup (p.Asp348GlufsTer?) n.471_474dup n.389_392dup c.80_83dup (p.Asp28GlufsTer?) c.-50_-47dup (n.-50_-47dup) | |
7 | g.44145657C>A | CA367399031 | GCK | c.*1091G>T (n.*1091G>T) c.*213G>T (n.*213G>T) n.319G>T c.127G>T (p.Asp43Tyr) c.1096G>T (p.Asp366Tyr) c.1093G>T (p.Asp365Tyr) c.1156G>T (p.Asp386Tyr) n.105G>T c.145G>T (p.Asp49Tyr) c.1090G>T (p.Asp364Tyr) c.1042G>T (p.Asp348Tyr) n.473G>T n.391G>T c.82G>T (p.Asp28Tyr) c.-48G>T (n.-48G>T) | |
7 | g.44145657C>G | CA367399033 | GCK | c.*1091G>C (n.*1091G>C) c.*213G>C (n.*213G>C) n.319G>C c.127G>C (p.Asp43His) c.1096G>C (p.Asp366His) c.1093G>C (p.Asp365His) c.1156G>C (p.Asp386His) n.105G>C c.145G>C (p.Asp49His) c.1090G>C (p.Asp364His) c.1042G>C (p.Asp348His) n.473G>C n.391G>C c.82G>C (p.Asp28His) c.-48G>C (n.-48G>C) | |
7 | g.44145657C>T | CA367399036 | GCK | c.*1091G>A (n.*1091G>A) c.*213G>A (n.*213G>A) n.319G>A c.127G>A (p.Asp43Asn) c.1096G>A (p.Asp366Asn) c.1093G>A (p.Asp365Asn) c.1156G>A (p.Asp386Asn) n.105G>A c.145G>A (p.Asp49Asn) c.1090G>A (p.Asp364Asn) c.1042G>A (p.Asp348Asn) n.473G>A n.391G>A c.82G>A (p.Asp28Asn) c.-48G>A (n.-48G>A) | ClinVar |
7 | g.44145658G>A | CA454863047 | GCK | c.*1090C>T (n.*1090C>T) c.*212C>T (n.*212C>T) n.318C>T c.126C>T (p.Cys42=) c.1095C>T (p.Cys365=) c.1092C>T (p.Cys364=) c.1155C>T (p.Cys385=) n.104C>T c.144C>T (p.Cys48=) c.1089C>T (p.Cys363=) c.1041C>T (p.Cys347=) n.472C>T n.390C>T c.81C>T (p.Cys27=) c.-49C>T (n.-49C>T) | gnomAD v4 COSMIC COSMIC COSMIC |
7 | g.44145658G>C | CA367399038 | GCK | c.*1090C>G (n.*1090C>G) c.*212C>G (n.*212C>G) n.318C>G c.126C>G (p.Cys42Trp) c.1095C>G (p.Cys365Trp) c.1092C>G (p.Cys364Trp) c.1155C>G (p.Cys385Trp) n.104C>G c.144C>G (p.Cys48Trp) c.1089C>G (p.Cys363Trp) c.1041C>G (p.Cys347Trp) n.472C>G n.390C>G c.81C>G (p.Cys27Trp) c.-49C>G (n.-49C>G) | |
7 | g.44145658G>T | CA367399040 | GCK | c.*1090C>A (n.*1090C>A) c.*212C>A (n.*212C>A) n.318C>A c.126C>A (p.Cys42Ter) c.1095C>A (p.Cys365Ter) c.1092C>A (p.Cys364Ter) c.1155C>A (p.Cys385Ter) n.104C>A c.144C>A (p.Cys48Ter) c.1089C>A (p.Cys363Ter) c.1041C>A (p.Cys347Ter) n.472C>A n.390C>A c.81C>A (p.Cys27Ter) c.-49C>A (n.-49C>A) | gnomAD v4 |
7 | g.44145659C>A | CA367399044 | GCK | c.*1089G>T (n.*1089G>T) c.*211G>T (n.*211G>T) n.317G>T c.125G>T (p.Cys42Phe) c.1094G>T (p.Cys365Phe) c.1091G>T (p.Cys364Phe) c.1154G>T (p.Cys385Phe) n.103G>T c.143G>T (p.Cys48Phe) c.1088G>T (p.Cys363Phe) c.1040G>T (p.Cys347Phe) n.471G>T n.389G>T c.80G>T (p.Cys27Phe) c.-50G>T (n.-50G>T) | gnomAD v4 |
7 | g.44145659C>G | CA367399046 | GCK | c.*1089G>C (n.*1089G>C) c.*211G>C (n.*211G>C) n.317G>C c.125G>C (p.Cys42Ser) c.1094G>C (p.Cys365Ser) c.1091G>C (p.Cys364Ser) c.1154G>C (p.Cys385Ser) n.103G>C c.143G>C (p.Cys48Ser) c.1088G>C (p.Cys363Ser) c.1040G>C (p.Cys347Ser) n.471G>C n.389G>C c.80G>C (p.Cys27Ser) c.-50G>C (n.-50G>C) | |
7 | g.44145659C>T | CA367399048 | GCK | c.*1089G>A (n.*1089G>A) c.*211G>A (n.*211G>A) n.317G>A c.125G>A (p.Cys42Tyr) c.1094G>A (p.Cys365Tyr) c.1091G>A (p.Cys364Tyr) c.1154G>A (p.Cys385Tyr) n.103G>A c.143G>A (p.Cys48Tyr) c.1088G>A (p.Cys363Tyr) c.1040G>A (p.Cys347Tyr) n.471G>A n.389G>A c.80G>A (p.Cys27Tyr) c.-50G>A (n.-50G>A) | |
7 | g.44145660A>C | CA367399051 | GCK | c.*1088T>G (n.*1088T>G) c.*210T>G (n.*210T>G) n.316T>G c.124T>G (p.Cys42Gly) c.1093T>G (p.Cys365Gly) c.1090T>G (p.Cys364Gly) c.1153T>G (p.Cys385Gly) n.102T>G c.142T>G (p.Cys48Gly) c.1087T>G (p.Cys363Gly) c.1039T>G (p.Cys347Gly) n.470T>G n.388T>G c.79T>G (p.Cys27Gly) c.-51T>G (n.-51T>G) | |
7 | g.44145660A>G | CA367399052 | GCK | c.*1088T>C (n.*1088T>C) c.*210T>C (n.*210T>C) n.316T>C c.124T>C (p.Cys42Arg) c.1093T>C (p.Cys365Arg) c.1090T>C (p.Cys364Arg) c.1153T>C (p.Cys385Arg) n.102T>C c.142T>C (p.Cys48Arg) c.1087T>C (p.Cys363Arg) c.1039T>C (p.Cys347Arg) n.470T>C n.388T>C c.79T>C (p.Cys27Arg) c.-51T>C (n.-51T>C) | |
7 | g.44145660A>T | CA367399055 | GCK | c.*1088T>A (n.*1088T>A) c.*210T>A (n.*210T>A) n.316T>A c.124T>A (p.Cys42Ser) c.1093T>A (p.Cys365Ser) c.1090T>A (p.Cys364Ser) c.1153T>A (p.Cys385Ser) n.102T>A c.142T>A (p.Cys48Ser) c.1087T>A (p.Cys363Ser) c.1039T>A (p.Cys347Ser) n.470T>A n.388T>A c.79T>A (p.Cys27Ser) c.-51T>A (n.-51T>A) | |
7 | g.44145660_44145664del | CA2695203050 | GCK | c.*1084_*1088del (n.*1084_*1088del) c.*206_*210del (n.*206_*210del) n.312_316del c.120_124del (p.Asp41ArgfsTer?) c.1089_1093del (p.Asp364ArgfsTer?) c.1086_1090del (p.Asp363ArgfsTer?) c.1149_1153del (p.Asp384ArgfsTer?) n.98_102del c.138_142del (p.Asp47ArgfsTer?) c.1083_1087del (p.Asp362ArgfsTer?) c.1035_1039del (p.Asp346ArgfsTer?) n.466_470del n.384_388del c.75_79del (p.Asp26ArgfsTer?) c.-55_-51del (n.-55_-51del) | |
7 | g.44145661G>A | CA4239434 | GCK | c.*1087C>T (n.*1087C>T) c.*209C>T (n.*209C>T) n.315C>T c.123C>T (p.Asp41=) c.1092C>T (p.Asp364=) c.1089C>T (p.Asp363=) c.1152C>T (p.Asp384=) n.101C>T c.141C>T (p.Asp47=) c.1086C>T (p.Asp362=) c.1038C>T (p.Asp346=) n.469C>T n.387C>T c.78C>T (p.Asp26=) c.-52C>T (n.-52C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.44145661G>C | CA367399060 | GCK | c.*1087C>G (n.*1087C>G) c.*209C>G (n.*209C>G) n.315C>G c.123C>G (p.Asp41Glu) c.1092C>G (p.Asp364Glu) c.1089C>G (p.Asp363Glu) c.1152C>G (p.Asp384Glu) n.101C>G c.141C>G (p.Asp47Glu) c.1086C>G (p.Asp362Glu) c.1038C>G (p.Asp346Glu) n.469C>G n.387C>G c.78C>G (p.Asp26Glu) c.-52C>G (n.-52C>G) | |
7 | g.44145661G= | CA1703612943 | GCK | c.*1087C= (n.*1087C=) c.*209C= (n.*209C=) n.315C= c.123C= (p.Asp41=) c.1092C= (p.Asp364=) c.1089C= (p.Asp363=) c.1152C= (p.Asp384=) n.101C= c.141C= (p.Asp47=) c.1086C= (p.Asp362=) c.1038C= (p.Asp346=) n.469C= n.387C= c.78C= (p.Asp26=) c.-52C= (n.-52C=) | |
7 | g.44145661G>T | CA367399058 | GCK | c.*1087C>A (n.*1087C>A) c.*209C>A (n.*209C>A) n.315C>A c.123C>A (p.Asp41Glu) c.1092C>A (p.Asp364Glu) c.1089C>A (p.Asp363Glu) c.1152C>A (p.Asp384Glu) n.101C>A c.141C>A (p.Asp47Glu) c.1086C>A (p.Asp362Glu) c.1038C>A (p.Asp346Glu) n.469C>A n.387C>A c.78C>A (p.Asp26Glu) c.-52C>A (n.-52C>A) | gnomAD v4 |
7 | g.44145662T>A | CA367399064 | GCK | c.*1086A>T (n.*1086A>T) c.*208A>T (n.*208A>T) n.314A>T c.122A>T (p.Asp41Val) c.1091A>T (p.Asp364Val) c.1088A>T (p.Asp363Val) c.1151A>T (p.Asp384Val) n.100A>T c.140A>T (p.Asp47Val) c.1085A>T (p.Asp362Val) c.1037A>T (p.Asp346Val) n.468A>T n.386A>T c.77A>T (p.Asp26Val) c.-53A>T (n.-53A>T) | |
7 | g.44145662T>C | CA367399062 | GCK | c.*1086A>G (n.*1086A>G) c.*208A>G (n.*208A>G) n.314A>G c.122A>G (p.Asp41Gly) c.1091A>G (p.Asp364Gly) c.1088A>G (p.Asp363Gly) c.1151A>G (p.Asp384Gly) n.100A>G c.140A>G (p.Asp47Gly) c.1085A>G (p.Asp362Gly) c.1037A>G (p.Asp346Gly) n.468A>G n.386A>G c.77A>G (p.Asp26Gly) c.-53A>G (n.-53A>G) | |
7 | g.44145662T>G | CA367399066 | GCK | c.*1086A>C (n.*1086A>C) c.*208A>C (n.*208A>C) n.314A>C c.122A>C (p.Asp41Ala) c.1091A>C (p.Asp364Ala) c.1088A>C (p.Asp363Ala) c.1151A>C (p.Asp384Ala) n.100A>C c.140A>C (p.Asp47Ala) c.1085A>C (p.Asp362Ala) c.1037A>C (p.Asp346Ala) n.468A>C n.386A>C c.77A>C (p.Asp26Ala) c.-53A>C (n.-53A>C) | gnomAD v4 |
7 | g.44145663C>A | CA367399069 | GCK | c.*1085G>T (n.*1085G>T) c.*207G>T (n.*207G>T) n.313G>T c.121G>T (p.Asp41Tyr) c.1090G>T (p.Asp364Tyr) c.1087G>T (p.Asp363Tyr) c.1150G>T (p.Asp384Tyr) n.99G>T c.139G>T (p.Asp47Tyr) c.1084G>T (p.Asp362Tyr) c.1036G>T (p.Asp346Tyr) n.467G>T n.385G>T c.76G>T (p.Asp26Tyr) c.-54G>T (n.-54G>T) | gnomAD v4 |
7 | g.44145663C= | CA1703612944 | GCK | c.*1085G= (n.*1085G=) c.*207G= (n.*207G=) n.313G= c.121G= (p.Asp41=) c.1090G= (p.Asp364=) c.1087G= (p.Asp363=) c.1150G= (p.Asp384=) n.99G= c.139G= (p.Asp47=) c.1084G= (p.Asp362=) c.1036G= (p.Asp346=) n.467G= n.385G= c.76G= (p.Asp26=) c.-54G= (n.-54G=) | |
7 | g.44145663C>G | CA367399072 | GCK | c.*1085G>C (n.*1085G>C) c.*207G>C (n.*207G>C) n.313G>C c.121G>C (p.Asp41His) c.1090G>C (p.Asp364His) c.1087G>C (p.Asp363His) c.1150G>C (p.Asp384His) n.99G>C c.139G>C (p.Asp47His) c.1084G>C (p.Asp362His) c.1036G>C (p.Asp346His) n.467G>C n.385G>C c.76G>C (p.Asp26His) c.-54G>C (n.-54G>C) | |
7 | g.44145663C>T | CA16618466 | GCK | c.*1085G>A (n.*1085G>A) c.*207G>A (n.*207G>A) n.313G>A c.121G>A (p.Asp41Asn) c.1090G>A (p.Asp364Asn) c.1087G>A (p.Asp363Asn) c.1150G>A (p.Asp384Asn) n.99G>A c.139G>A (p.Asp47Asn) c.1084G>A (p.Asp362Asn) c.1036G>A (p.Asp346Asn) n.467G>A n.385G>A c.76G>A (p.Asp26Asn) c.-54G>A (n.-54G>A) | ClinVar dbSNP |
7 | g.44145664_44145683dup | CA2832528747 | GCK | c.*1066_*1085dup (n.*1066_*1085dup) c.*188_*207dup (n.*188_*207dup) n.294_313dup c.102_121dup (p.Asp41GlyfsTer?) c.1071_1090dup (p.Asp364GlyfsTer?) c.1068_1087dup (p.Asp363GlyfsTer?) c.1131_1150dup (p.Asp384GlyfsTer?) n.80_99dup c.120_139dup (p.Asp47GlyfsTer?) c.1065_1084dup (p.Asp362GlyfsTer?) c.1017_1036dup (p.Asp346GlyfsTer?) n.448_467dup n.366_385dup c.57_76dup (p.Asp26GlyfsTer?) c.-73_-54dup (n.-73_-54dup) | |
7 | g.44145664G>A | CA4239435 | GCK | c.*1084C>T (n.*1084C>T) c.*206C>T (n.*206C>T) n.312C>T c.120C>T (p.Thr40=) c.1089C>T (p.Thr363=) c.1086C>T (p.Thr362=) c.1149C>T (p.Thr383=) n.98C>T c.138C>T (p.Thr46=) c.1083C>T (p.Thr361=) c.1035C>T (p.Thr345=) n.466C>T n.384C>T c.75C>T (p.Thr25=) c.-55C>T (n.-55C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44145664G>C | CA454863048 | GCK | c.*1084C>G (n.*1084C>G) c.*206C>G (n.*206C>G) n.312C>G c.120C>G (p.Thr40=) c.1089C>G (p.Thr363=) c.1086C>G (p.Thr362=) c.1149C>G (p.Thr383=) n.98C>G c.138C>G (p.Thr46=) c.1083C>G (p.Thr361=) c.1035C>G (p.Thr345=) n.466C>G n.384C>G c.75C>G (p.Thr25=) c.-55C>G (n.-55C>G) | gnomAD v4 |
7 | g.44145664G= | CA1703612945 | GCK | c.*1084C= (n.*1084C=) c.*206C= (n.*206C=) n.312C= c.120C= (p.Thr40=) c.1089C= (p.Thr363=) c.1086C= (p.Thr362=) c.1149C= (p.Thr383=) n.98C= c.138C= (p.Thr46=) c.1083C= (p.Thr361=) c.1035C= (p.Thr345=) n.466C= n.384C= c.75C= (p.Thr25=) c.-55C= (n.-55C=) | |
7 | g.44145664G>T | CA454863049 | GCK | c.*1084C>A (n.*1084C>A) c.*206C>A (n.*206C>A) n.312C>A c.120C>A (p.Thr40=) c.1089C>A (p.Thr363=) c.1086C>A (p.Thr362=) c.1149C>A (p.Thr383=) n.98C>A c.138C>A (p.Thr46=) c.1083C>A (p.Thr361=) c.1035C>A (p.Thr345=) n.466C>A n.384C>A c.75C>A (p.Thr25=) c.-55C>A (n.-55C>A) | gnomAD v4 |
7 | g.44145667_44145669del | CA2695203052 | GCK | c.*1082_*1084del (n.*1082_*1084del) c.*204_*206del (n.*204_*206del) n.310_312del c.118_120del (p.Thr40del) c.1087_1089del (p.Thr363del) c.1084_1086del (p.Thr362del) c.1147_1149del (p.Thr383del) n.96_98del c.136_138del (p.Thr46del) c.1081_1083del (p.Thr361del) c.1033_1035del (p.Thr345del) n.464_466del n.382_384del c.73_75del (p.Thr25del) c.-57_-55del (n.-57_-55del) | |
7 | g.44145665G>A | CA367399081 | GCK | c.*1083C>T (n.*1083C>T) c.*205C>T (n.*205C>T) n.311C>T c.119C>T (p.Thr40Ile) c.1088C>T (p.Thr363Ile) c.1085C>T (p.Thr362Ile) c.1148C>T (p.Thr383Ile) n.97C>T c.137C>T (p.Thr46Ile) c.1082C>T (p.Thr361Ile) c.1034C>T (p.Thr345Ile) n.465C>T n.383C>T c.74C>T (p.Thr25Ile) c.-56C>T (n.-56C>T) | ClinVar dbSNP gnomAD v4 |
7 | g.44145665G>C | CA367399077 | GCK | c.*1083C>G (n.*1083C>G) c.*205C>G (n.*205C>G) n.311C>G c.119C>G (p.Thr40Ser) c.1088C>G (p.Thr363Ser) c.1085C>G (p.Thr362Ser) c.1148C>G (p.Thr383Ser) n.97C>G c.137C>G (p.Thr46Ser) c.1082C>G (p.Thr361Ser) c.1034C>G (p.Thr345Ser) n.465C>G n.383C>G c.74C>G (p.Thr25Ser) c.-56C>G (n.-56C>G) | gnomAD v4 |
7 | g.44145665G= | CA1703612946 | GCK | c.*1083C= (n.*1083C=) c.*205C= (n.*205C=) n.311C= c.119C= (p.Thr40=) c.1088C= (p.Thr363=) c.1085C= (p.Thr362=) c.1148C= (p.Thr383=) n.97C= c.137C= (p.Thr46=) c.1082C= (p.Thr361=) c.1034C= (p.Thr345=) n.465C= n.383C= c.74C= (p.Thr25=) c.-56C= (n.-56C=) | |
7 | g.44145665G>T | CA367399079 | GCK | c.*1083C>A (n.*1083C>A) c.*205C>A (n.*205C>A) n.311C>A c.119C>A (p.Thr40Asn) c.1088C>A (p.Thr363Asn) c.1085C>A (p.Thr362Asn) c.1148C>A (p.Thr383Asn) n.97C>A c.137C>A (p.Thr46Asn) c.1082C>A (p.Thr361Asn) c.1034C>A (p.Thr345Asn) n.465C>A n.383C>A c.74C>A (p.Thr25Asn) c.-56C>A (n.-56C>A) | gnomAD v4 |
7 | g.44145666T>A | CA367399083 | GCK | c.*1082A>T (n.*1082A>T) c.*204A>T (n.*204A>T) n.310A>T c.118A>T (p.Thr40Ser) c.1087A>T (p.Thr363Ser) c.1084A>T (p.Thr362Ser) c.1147A>T (p.Thr383Ser) n.96A>T c.136A>T (p.Thr46Ser) c.1081A>T (p.Thr361Ser) c.1033A>T (p.Thr345Ser) n.464A>T n.382A>T c.73A>T (p.Thr25Ser) c.-57A>T (n.-57A>T) | |
7 | g.44145666T>C | CA367399086 | GCK | c.*1082A>G (n.*1082A>G) c.*204A>G (n.*204A>G) n.310A>G c.118A>G (p.Thr40Ala) c.1087A>G (p.Thr363Ala) c.1084A>G (p.Thr362Ala) c.1147A>G (p.Thr383Ala) n.96A>G c.136A>G (p.Thr46Ala) c.1081A>G (p.Thr361Ala) c.1033A>G (p.Thr345Ala) n.464A>G n.382A>G c.73A>G (p.Thr25Ala) c.-57A>G (n.-57A>G) | |
7 | g.44145666T>G | CA367399089 | GCK | c.*1082A>C (n.*1082A>C) c.*204A>C (n.*204A>C) n.310A>C c.118A>C (p.Thr40Pro) c.1087A>C (p.Thr363Pro) c.1084A>C (p.Thr362Pro) c.1147A>C (p.Thr383Pro) n.96A>C c.136A>C (p.Thr46Pro) c.1081A>C (p.Thr361Pro) c.1033A>C (p.Thr345Pro) n.464A>C n.382A>C c.73A>C (p.Thr25Pro) c.-57A>C (n.-57A>C) | |
7 | g.44145667G>A | CA454863051 | GCK | c.*1081C>T (n.*1081C>T) c.*203C>T (n.*203C>T) n.309C>T c.117C>T (p.Thr39=) c.1086C>T (p.Thr362=) c.1083C>T (p.Thr361=) c.1146C>T (p.Thr382=) n.95C>T c.135C>T (p.Thr45=) c.1080C>T (p.Thr360=) c.1032C>T (p.Thr344=) n.463C>T n.381C>T c.72C>T (p.Thr24=) c.-58C>T (n.-58C>T) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145667G>C | CA454863052 | GCK | c.*1081C>G (n.*1081C>G) c.*203C>G (n.*203C>G) n.309C>G c.117C>G (p.Thr39=) c.1086C>G (p.Thr362=) c.1083C>G (p.Thr361=) c.1146C>G (p.Thr382=) n.95C>G c.135C>G (p.Thr45=) c.1080C>G (p.Thr360=) c.1032C>G (p.Thr344=) n.463C>G n.381C>G c.72C>G (p.Thr24=) c.-58C>G (n.-58C>G) | |
7 | g.44145667G= | CA1703612947 | GCK | c.*1081C= (n.*1081C=) c.*203C= (n.*203C=) n.309C= c.117C= (p.Thr39=) c.1086C= (p.Thr362=) c.1083C= (p.Thr361=) c.1146C= (p.Thr382=) n.95C= c.135C= (p.Thr45=) c.1080C= (p.Thr360=) c.1032C= (p.Thr344=) n.463C= n.381C= c.72C= (p.Thr24=) c.-58C= (n.-58C=) | |
7 | g.44145667G>T | CA454863053 | GCK | c.*1081C>A (n.*1081C>A) c.*203C>A (n.*203C>A) n.309C>A c.117C>A (p.Thr39=) c.1086C>A (p.Thr362=) c.1083C>A (p.Thr361=) c.1146C>A (p.Thr382=) n.95C>A c.135C>A (p.Thr45=) c.1080C>A (p.Thr360=) c.1032C>A (p.Thr344=) n.463C>A n.381C>A c.72C>A (p.Thr24=) c.-58C>A (n.-58C>A) | |
7 | g.44145668dup | CA2695203053 | GCK | c.*1081dup (n.*1081dup) c.*203dup (n.*203dup) n.309dup c.117dup (p.Thr40HisfsTer?) c.1086dup (p.Thr363HisfsTer?) c.1083dup (p.Thr362HisfsTer?) c.1146dup (p.Thr383HisfsTer?) n.95dup c.135dup (p.Thr46HisfsTer?) c.1080dup (p.Thr361HisfsTer?) c.1032dup (p.Thr345HisfsTer?) n.463dup n.381dup c.72dup (p.Thr25HisfsTer?) c.-58dup (n.-58dup) | ClinVar |
7 | g.44145668G>A | CA367399091 | GCK | c.*1080C>T (n.*1080C>T) c.*202C>T (n.*202C>T) n.308C>T c.116C>T (p.Thr39Ile) c.1085C>T (p.Thr362Ile) c.1082C>T (p.Thr361Ile) c.1145C>T (p.Thr382Ile) n.94C>T c.134C>T (p.Thr45Ile) c.1079C>T (p.Thr360Ile) c.1031C>T (p.Thr344Ile) n.462C>T n.380C>T c.71C>T (p.Thr24Ile) c.-59C>T (n.-59C>T) | |
7 | g.44145668G>C | CA367399094 | GCK | c.*1080C>G (n.*1080C>G) c.*202C>G (n.*202C>G) n.308C>G c.116C>G (p.Thr39Ser) c.1085C>G (p.Thr362Ser) c.1082C>G (p.Thr361Ser) c.1145C>G (p.Thr382Ser) n.94C>G c.134C>G (p.Thr45Ser) c.1079C>G (p.Thr360Ser) c.1031C>G (p.Thr344Ser) n.462C>G n.380C>G c.71C>G (p.Thr24Ser) c.-59C>G (n.-59C>G) | gnomAD v4 |
7 | g.44145668G>T | CA367399096 | GCK | c.*1080C>A (n.*1080C>A) c.*202C>A (n.*202C>A) n.308C>A c.116C>A (p.Thr39Asn) c.1085C>A (p.Thr362Asn) c.1082C>A (p.Thr361Asn) c.1145C>A (p.Thr382Asn) n.94C>A c.134C>A (p.Thr45Asn) c.1079C>A (p.Thr360Asn) c.1031C>A (p.Thr344Asn) n.462C>A n.380C>A c.71C>A (p.Thr24Asn) c.-59C>A (n.-59C>A) | |
7 | g.44145669T>A | CA367399100 | GCK | c.*1079A>T (n.*1079A>T) c.*201A>T (n.*201A>T) n.307A>T c.115A>T (p.Thr39Ser) c.1084A>T (p.Thr362Ser) c.1081A>T (p.Thr361Ser) c.1144A>T (p.Thr382Ser) n.93A>T c.133A>T (p.Thr45Ser) c.1078A>T (p.Thr360Ser) c.1030A>T (p.Thr344Ser) n.461A>T n.379A>T c.70A>T (p.Thr24Ser) c.-60A>T (n.-60A>T) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.44145669T>C | CA367399102 | GCK | c.*1079A>G (n.*1079A>G) c.*201A>G (n.*201A>G) n.307A>G c.115A>G (p.Thr39Ala) c.1084A>G (p.Thr362Ala) c.1081A>G (p.Thr361Ala) c.1144A>G (p.Thr382Ala) n.93A>G c.133A>G (p.Thr45Ala) c.1078A>G (p.Thr360Ala) c.1030A>G (p.Thr344Ala) n.461A>G n.379A>G c.70A>G (p.Thr24Ala) c.-60A>G (n.-60A>G) | |
7 | g.44145669T>G | CA367399105 | GCK | c.*1079A>C (n.*1079A>C) c.*201A>C (n.*201A>C) n.307A>C c.115A>C (p.Thr39Pro) c.1084A>C (p.Thr362Pro) c.1081A>C (p.Thr361Pro) c.1144A>C (p.Thr382Pro) n.93A>C c.133A>C (p.Thr45Pro) c.1078A>C (p.Thr360Pro) c.1030A>C (p.Thr344Pro) n.461A>C n.379A>C c.70A>C (p.Thr24Pro) c.-60A>C (n.-60A>C) | gnomAD v4 |
7 | g.44145669T= | CA1703612948 | GCK | c.*1079A= (n.*1079A=) c.*201A= (n.*201A=) n.307A= c.115A= (p.Thr39=) c.1084A= (p.Thr362=) c.1081A= (p.Thr361=) c.1144A= (p.Thr382=) n.93A= c.133A= (p.Thr45=) c.1078A= (p.Thr360=) c.1030A= (p.Thr344=) n.461A= n.379A= c.70A= (p.Thr24=) c.-60A= (n.-60A=) | |
7 | g.44145670C>A | CA454863054 | GCK | c.*1078G>T (n.*1078G>T) c.*200G>T (n.*200G>T) n.306G>T c.114G>T (p.Ser38=) c.1083G>T (p.Ser361=) c.1080G>T (p.Ser360=) c.1143G>T (p.Ser381=) n.92G>T c.132G>T (p.Ser44=) c.1077G>T (p.Ser359=) c.1029G>T (p.Ser343=) n.460G>T n.378G>T c.69G>T (p.Ser23=) c.-61G>T (n.-61G>T) | gnomAD v4 |
7 | g.44145670C= | CA1703612949 | GCK | c.*1078G= (n.*1078G=) c.*200G= (n.*200G=) n.306G= c.114G= (p.Ser38=) c.1083G= (p.Ser361=) c.1080G= (p.Ser360=) c.1143G= (p.Ser381=) n.92G= c.132G= (p.Ser44=) c.1077G= (p.Ser359=) c.1029G= (p.Ser343=) n.460G= n.378G= c.69G= (p.Ser23=) c.-61G= (n.-61G=) | |
7 | g.44145670C>G | CA454863055 | GCK | c.*1078G>C (n.*1078G>C) c.*200G>C (n.*200G>C) n.306G>C c.114G>C (p.Ser38=) c.1083G>C (p.Ser361=) c.1080G>C (p.Ser360=) c.1143G>C (p.Ser381=) n.92G>C c.132G>C (p.Ser44=) c.1077G>C (p.Ser359=) c.1029G>C (p.Ser343=) n.460G>C n.378G>C c.69G>C (p.Ser23=) c.-61G>C (n.-61G>C) | |
7 | g.44145670C>T | CA4239436 | GCK | c.*1078G>A (n.*1078G>A) c.*200G>A (n.*200G>A) n.306G>A c.114G>A (p.Ser38=) c.1083G>A (p.Ser361=) c.1080G>A (p.Ser360=) c.1143G>A (p.Ser381=) n.92G>A c.132G>A (p.Ser44=) c.1077G>A (p.Ser359=) c.1029G>A (p.Ser343=) n.460G>A n.378G>A c.69G>A (p.Ser23=) c.-61G>A (n.-61G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44145671G>A | CA367399114 | GCK | c.*1077C>T (n.*1077C>T) c.*199C>T (n.*199C>T) n.305C>T c.113C>T (p.Ser38Leu) c.1082C>T (p.Ser361Leu) c.1079C>T (p.Ser360Leu) c.1142C>T (p.Ser381Leu) n.91C>T c.131C>T (p.Ser44Leu) c.1076C>T (p.Ser359Leu) c.1028C>T (p.Ser343Leu) n.459C>T n.377C>T c.68C>T (p.Ser23Leu) c.-62C>T (n.-62C>T) | ClinVar gnomAD v4 |
7 | g.44145671G>C | CA367399110 | GCK | c.*1077C>G (n.*1077C>G) c.*199C>G (n.*199C>G) n.305C>G c.113C>G (p.Ser38Trp) c.1082C>G (p.Ser361Trp) c.1079C>G (p.Ser360Trp) c.1142C>G (p.Ser381Trp) n.91C>G c.131C>G (p.Ser44Trp) c.1076C>G (p.Ser359Trp) c.1028C>G (p.Ser343Trp) n.459C>G n.377C>G c.68C>G (p.Ser23Trp) c.-62C>G (n.-62C>G) | ClinVar |
7 | g.44145671G>T | CA367399113 | GCK | c.*1077C>A (n.*1077C>A) c.*199C>A (n.*199C>A) n.305C>A c.113C>A (p.Ser38Ter) c.1082C>A (p.Ser361Ter) c.1079C>A (p.Ser360Ter) c.1142C>A (p.Ser381Ter) n.91C>A c.131C>A (p.Ser44Ter) c.1076C>A (p.Ser359Ter) c.1028C>A (p.Ser343Ter) n.459C>A n.377C>A c.68C>A (p.Ser23Ter) c.-62C>A (n.-62C>A) | ClinVar dbSNP gnomAD v4 |
7 | g.44145672A>C | CA367399116 | GCK | c.*1076T>G (n.*1076T>G) c.*198T>G (n.*198T>G) n.304T>G c.112T>G (p.Ser38Ala) c.1081T>G (p.Ser361Ala) c.1078T>G (p.Ser360Ala) c.1141T>G (p.Ser381Ala) n.90T>G c.130T>G (p.Ser44Ala) c.1075T>G (p.Ser359Ala) c.1027T>G (p.Ser343Ala) n.458T>G n.376T>G c.67T>G (p.Ser23Ala) c.-63T>G (n.-63T>G) | |
7 | g.44145672A>G | CA367399118 | GCK | c.*1076T>C (n.*1076T>C) c.*198T>C (n.*198T>C) n.304T>C c.112T>C (p.Ser38Pro) c.1081T>C (p.Ser361Pro) c.1078T>C (p.Ser360Pro) c.1141T>C (p.Ser381Pro) n.90T>C c.130T>C (p.Ser44Pro) c.1075T>C (p.Ser359Pro) c.1027T>C (p.Ser343Pro) n.458T>C n.376T>C c.67T>C (p.Ser23Pro) c.-63T>C (n.-63T>C) | gnomAD v4 |
7 | g.44145672A>T | CA367399121 | GCK | c.*1076T>A (n.*1076T>A) c.*198T>A (n.*198T>A) n.304T>A c.112T>A (p.Ser38Thr) c.1081T>A (p.Ser361Thr) c.1078T>A (p.Ser360Thr) c.1141T>A (p.Ser381Thr) n.90T>A c.130T>A (p.Ser44Thr) c.1075T>A (p.Ser359Thr) c.1027T>A (p.Ser343Thr) n.458T>A n.376T>A c.67T>A (p.Ser23Thr) c.-63T>A (n.-63T>A) | |
7 | g.44145673G>A | CA454863058 | GCK | c.*1075C>T (n.*1075C>T) c.*197C>T (n.*197C>T) n.303C>T c.111C>T (p.Pro37=) c.1080C>T (p.Pro360=) c.1077C>T (p.Pro359=) c.1140C>T (p.Pro380=) n.89C>T c.129C>T (p.Pro43=) c.1074C>T (p.Pro358=) c.1026C>T (p.Pro342=) n.457C>T n.375C>T c.66C>T (p.Pro22=) c.-64C>T (n.-64C>T) | |
7 | g.44145673G>C | CA454863056 | GCK | c.*1075C>G (n.*1075C>G) c.*197C>G (n.*197C>G) n.303C>G c.111C>G (p.Pro37=) c.1080C>G (p.Pro360=) c.1077C>G (p.Pro359=) c.1140C>G (p.Pro380=) n.89C>G c.129C>G (p.Pro43=) c.1074C>G (p.Pro358=) c.1026C>G (p.Pro342=) n.457C>G n.375C>G c.66C>G (p.Pro22=) c.-64C>G (n.-64C>G) | gnomAD v4 |
7 | g.44145673G>T | CA454863057 | GCK | c.*1075C>A (n.*1075C>A) c.*197C>A (n.*197C>A) n.303C>A c.111C>A (p.Pro37=) c.1080C>A (p.Pro360=) c.1077C>A (p.Pro359=) c.1140C>A (p.Pro380=) n.89C>A c.129C>A (p.Pro43=) c.1074C>A (p.Pro358=) c.1026C>A (p.Pro342=) n.457C>A n.375C>A c.66C>A (p.Pro22=) c.-64C>A (n.-64C>A) | gnomAD v4 |
7 | g.44145675del | CA2580077161 | GCK | c.*1075del (n.*1075del) c.*197del (n.*197del) n.303del c.111del (p.Ser38ArgfsTer?) c.1080del (p.Ser361ArgfsTer?) c.1077del (p.Ser360ArgfsTer?) c.1140del (p.Ser381ArgfsTer?) n.89del c.129del (p.Ser44ArgfsTer?) c.1074del (p.Ser359ArgfsTer?) c.1026del (p.Ser343ArgfsTer?) n.457del n.375del c.66del (p.Ser23ArgfsTer?) c.-64del (n.-64del) | ClinVar |
7 | g.44145674G>A | CA367399124 | GCK | c.*1074C>T (n.*1074C>T) c.*196C>T (n.*196C>T) n.302C>T c.110C>T (p.Pro37Leu) c.1079C>T (p.Pro360Leu) c.1076C>T (p.Pro359Leu) c.1139C>T (p.Pro380Leu) n.88C>T c.128C>T (p.Pro43Leu) c.1073C>T (p.Pro358Leu) c.1025C>T (p.Pro342Leu) n.456C>T n.374C>T c.65C>T (p.Pro22Leu) c.-65C>T (n.-65C>T) | |
7 | g.44145674G>C | CA367399125 | GCK | c.*1074C>G (n.*1074C>G) c.*196C>G (n.*196C>G) n.302C>G c.110C>G (p.Pro37Arg) c.1079C>G (p.Pro360Arg) c.1076C>G (p.Pro359Arg) c.1139C>G (p.Pro380Arg) n.88C>G c.128C>G (p.Pro43Arg) c.1073C>G (p.Pro358Arg) c.1025C>G (p.Pro342Arg) n.456C>G n.374C>G c.65C>G (p.Pro22Arg) c.-65C>G (n.-65C>G) | |
7 | g.44145674G>T | CA367399128 | GCK | c.*1074C>A (n.*1074C>A) c.*196C>A (n.*196C>A) n.302C>A c.110C>A (p.Pro37His) c.1079C>A (p.Pro360His) c.1076C>A (p.Pro359His) c.1139C>A (p.Pro380His) n.88C>A c.128C>A (p.Pro43His) c.1073C>A (p.Pro358His) c.1025C>A (p.Pro342His) n.456C>A n.374C>A c.65C>A (p.Pro22His) c.-65C>A (n.-65C>A) | gnomAD v4 |
7 | g.44145675G>A | CA367399131 | GCK | c.*1073C>T (n.*1073C>T) c.*195C>T (n.*195C>T) n.301C>T c.109C>T (p.Pro37Ser) c.1078C>T (p.Pro360Ser) c.1075C>T (p.Pro359Ser) c.1138C>T (p.Pro380Ser) n.87C>T c.127C>T (p.Pro43Ser) c.1072C>T (p.Pro358Ser) c.1024C>T (p.Pro342Ser) n.455C>T n.373C>T c.64C>T (p.Pro22Ser) c.-66C>T (n.-66C>T) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145675G>C | CA367399134 | GCK | c.*1073C>G (n.*1073C>G) c.*195C>G (n.*195C>G) n.301C>G c.109C>G (p.Pro37Ala) c.1078C>G (p.Pro360Ala) c.1075C>G (p.Pro359Ala) c.1138C>G (p.Pro380Ala) n.87C>G c.127C>G (p.Pro43Ala) c.1072C>G (p.Pro358Ala) c.1024C>G (p.Pro342Ala) n.455C>G n.373C>G c.64C>G (p.Pro22Ala) c.-66C>G (n.-66C>G) | |
7 | g.44145675G= | CA1703612950 | GCK | c.*1073C= (n.*1073C=) c.*195C= (n.*195C=) n.301C= c.109C= (p.Pro37=) c.1078C= (p.Pro360=) c.1075C= (p.Pro359=) c.1138C= (p.Pro380=) n.87C= c.127C= (p.Pro43=) c.1072C= (p.Pro358=) c.1024C= (p.Pro342=) n.455C= n.373C= c.64C= (p.Pro22=) c.-66C= (n.-66C=) | |
7 | g.44145675G>T | CA367399135 | GCK | c.*1073C>A (n.*1073C>A) c.*195C>A (n.*195C>A) n.301C>A c.109C>A (p.Pro37Thr) c.1078C>A (p.Pro360Thr) c.1075C>A (p.Pro359Thr) c.1138C>A (p.Pro380Thr) n.87C>A c.127C>A (p.Pro43Thr) c.1072C>A (p.Pro358Thr) c.1024C>A (p.Pro342Thr) n.455C>A n.373C>A c.64C>A (p.Pro22Thr) c.-66C>A (n.-66C>A) | gnomAD v4 |
7 | g.44145676T>A | CA454863060 | GCK | c.*1072A>T (n.*1072A>T) c.*194A>T (n.*194A>T) n.300A>T c.108A>T (p.Arg36=) c.1077A>T (p.Arg359=) c.1074A>T (p.Arg358=) c.1137A>T (p.Arg379=) n.86A>T c.126A>T (p.Arg42=) c.1071A>T (p.Arg357=) c.1023A>T (p.Arg341=) n.454A>T n.372A>T c.63A>T (p.Arg21=) c.-67A>T (n.-67A>T) | |
7 | g.44145676T>C | CA454863063 | GCK | c.*1072A>G (n.*1072A>G) c.*194A>G (n.*194A>G) n.300A>G c.108A>G (p.Arg36=) c.1077A>G (p.Arg359=) c.1074A>G (p.Arg358=) c.1137A>G (p.Arg379=) n.86A>G c.126A>G (p.Arg42=) c.1071A>G (p.Arg357=) c.1023A>G (p.Arg341=) n.454A>G n.372A>G c.63A>G (p.Arg21=) c.-67A>G (n.-67A>G) | gnomAD v4 |
7 | g.44145676T>G | CA454863061 | GCK | c.*1072A>C (n.*1072A>C) c.*194A>C (n.*194A>C) n.300A>C c.108A>C (p.Arg36=) c.1077A>C (p.Arg359=) c.1074A>C (p.Arg358=) c.1137A>C (p.Arg379=) n.86A>C c.126A>C (p.Arg42=) c.1071A>C (p.Arg357=) c.1023A>C (p.Arg341=) n.454A>C n.372A>C c.63A>C (p.Arg21=) c.-67A>C (n.-67A>C) | |
7 | g.44145677C>A | CA367399138 | GCK | c.*1071G>T (n.*1071G>T) c.*193G>T (n.*193G>T) n.299G>T c.107G>T (p.Arg36Leu) c.1076G>T (p.Arg359Leu) c.1073G>T (p.Arg358Leu) c.1136G>T (p.Arg379Leu) n.85G>T c.125G>T (p.Arg42Leu) c.1070G>T (p.Arg357Leu) c.1022G>T (p.Arg341Leu) n.453G>T n.371G>T c.62G>T (p.Arg21Leu) c.-68G>T (n.-68G>T) | gnomAD v4 |
7 | g.44145677C= | CA1703612951 | GCK | c.*1071G= (n.*1071G=) c.*193G= (n.*193G=) n.299G= c.107G= (p.Arg36=) c.1076G= (p.Arg359=) c.1073G= (p.Arg358=) c.1136G= (p.Arg379=) n.85G= c.125G= (p.Arg42=) c.1070G= (p.Arg357=) c.1022G= (p.Arg341=) n.453G= n.371G= c.62G= (p.Arg21=) c.-68G= (n.-68G=) | |
7 | g.44145677C>G | CA367399140 | GCK | c.*1071G>C (n.*1071G>C) c.*193G>C (n.*193G>C) n.299G>C c.107G>C (p.Arg36Pro) c.1076G>C (p.Arg359Pro) c.1073G>C (p.Arg358Pro) c.1136G>C (p.Arg379Pro) n.85G>C c.125G>C (p.Arg42Pro) c.1070G>C (p.Arg357Pro) c.1022G>C (p.Arg341Pro) n.453G>C n.371G>C c.62G>C (p.Arg21Pro) c.-68G>C (n.-68G>C) | COSMIC COSMIC COSMIC |
7 | g.44145677C>T | CA367399142 | GCK | c.*1071G>A (n.*1071G>A) c.*193G>A (n.*193G>A) n.299G>A c.107G>A (p.Arg36Gln) c.1076G>A (p.Arg359Gln) c.1073G>A (p.Arg358Gln) c.1136G>A (p.Arg379Gln) n.85G>A c.125G>A (p.Arg42Gln) c.1070G>A (p.Arg357Gln) c.1022G>A (p.Arg341Gln) n.453G>A n.371G>A c.62G>A (p.Arg21Gln) c.-68G>A (n.-68G>A) | dbSNP |
7 | g.44145678G>A | CA4239437 | GCK | c.*1070C>T (n.*1070C>T) c.*192C>T (n.*192C>T) n.298C>T c.106C>T (p.Arg36Ter) c.1075C>T (p.Arg359Ter) c.1072C>T (p.Arg358Ter) c.1135C>T (p.Arg379Ter) n.84C>T c.124C>T (p.Arg42Ter) c.1069C>T (p.Arg357Ter) c.1021C>T (p.Arg341Ter) n.452C>T n.370C>T c.61C>T (p.Arg21Ter) c.-69C>T (n.-69C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
7 | g.44145678G>C | CA367399145 | GCK | c.*1070C>G (n.*1070C>G) c.*192C>G (n.*192C>G) n.298C>G c.106C>G (p.Arg36Gly) c.1075C>G (p.Arg359Gly) c.1072C>G (p.Arg358Gly) c.1135C>G (p.Arg379Gly) n.84C>G c.124C>G (p.Arg42Gly) c.1069C>G (p.Arg357Gly) c.1021C>G (p.Arg341Gly) n.452C>G n.370C>G c.61C>G (p.Arg21Gly) c.-69C>G (n.-69C>G) | gnomAD v4 |
7 | g.44145678G= | CA1703612952 | GCK | c.*1070C= (n.*1070C=) c.*192C= (n.*192C=) n.298C= c.106C= (p.Arg36=) c.1075C= (p.Arg359=) c.1072C= (p.Arg358=) c.1135C= (p.Arg379=) n.84C= c.124C= (p.Arg42=) c.1069C= (p.Arg357=) c.1021C= (p.Arg341=) n.452C= n.370C= c.61C= (p.Arg21=) c.-69C= (n.-69C=) | |
7 | g.44145678G>T | CA454863064 | GCK | c.*1070C>A (n.*1070C>A) c.*192C>A (n.*192C>A) n.298C>A c.106C>A (p.Arg36=) c.1075C>A (p.Arg359=) c.1072C>A (p.Arg358=) c.1135C>A (p.Arg379=) n.84C>A c.124C>A (p.Arg42=) c.1069C>A (p.Arg357=) c.1021C>A (p.Arg341=) n.452C>A n.370C>A c.61C>A (p.Arg21=) c.-69C>A (n.-69C>A) | gnomAD v4 |
7 | g.44145679C>A | CA454863065 | GCK | c.*1069G>T (n.*1069G>T) c.*191G>T (n.*191G>T) n.297G>T c.105G>T (p.Leu35=) c.1074G>T (p.Leu358=) c.1071G>T (p.Leu357=) c.1134G>T (p.Leu378=) n.83G>T c.123G>T (p.Leu41=) c.1068G>T (p.Leu356=) c.1020G>T (p.Leu340=) n.451G>T n.369G>T c.60G>T (p.Leu20=) c.-70G>T (n.-70G>T) | gnomAD v4 |
7 | g.44145679C= | CA1703612953 | GCK | c.*1069G= (n.*1069G=) c.*191G= (n.*191G=) n.297G= c.105G= (p.Leu35=) c.1074G= (p.Leu358=) c.1071G= (p.Leu357=) c.1134G= (p.Leu378=) n.83G= c.123G= (p.Leu41=) c.1068G= (p.Leu356=) c.1020G= (p.Leu340=) n.451G= n.369G= c.60G= (p.Leu20=) c.-70G= (n.-70G=) | |
7 | g.44145679C>G | CA4239438 | GCK | c.*1069G>C (n.*1069G>C) c.*191G>C (n.*191G>C) n.297G>C c.105G>C (p.Leu35=) c.1074G>C (p.Leu358=) c.1071G>C (p.Leu357=) c.1134G>C (p.Leu378=) n.83G>C c.123G>C (p.Leu41=) c.1068G>C (p.Leu356=) c.1020G>C (p.Leu340=) n.451G>C n.369G>C c.60G>C (p.Leu20=) c.-70G>C (n.-70G>C) | dbSNP ExAC gnomAD v3 gnomAD v4 |
7 | g.44145679C>T | CA454863066 | GCK | c.*1069G>A (n.*1069G>A) c.*191G>A (n.*191G>A) n.297G>A c.105G>A (p.Leu35=) c.1074G>A (p.Leu358=) c.1071G>A (p.Leu357=) c.1134G>A (p.Leu378=) n.83G>A c.123G>A (p.Leu41=) c.1068G>A (p.Leu356=) c.1020G>A (p.Leu340=) n.451G>A n.369G>A c.60G>A (p.Leu20=) c.-70G>A (n.-70G>A) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145680A>C | CA367399152 | GCK | c.*1068T>G (n.*1068T>G) c.*190T>G (n.*190T>G) n.296T>G c.104T>G (p.Leu35Arg) c.1073T>G (p.Leu358Arg) c.1070T>G (p.Leu357Arg) c.1133T>G (p.Leu378Arg) n.82T>G c.122T>G (p.Leu41Arg) c.1067T>G (p.Leu356Arg) c.1019T>G (p.Leu340Arg) n.450T>G n.368T>G c.59T>G (p.Leu20Arg) c.-71T>G (n.-71T>G) | |
7 | g.44145680A>G | CA367399154 | GCK | c.*1068T>C (n.*1068T>C) c.*190T>C (n.*190T>C) n.296T>C c.104T>C (p.Leu35Pro) c.1073T>C (p.Leu358Pro) c.1070T>C (p.Leu357Pro) c.1133T>C (p.Leu378Pro) n.82T>C c.122T>C (p.Leu41Pro) c.1067T>C (p.Leu356Pro) c.1019T>C (p.Leu340Pro) n.450T>C n.368T>C c.59T>C (p.Leu20Pro) c.-71T>C (n.-71T>C) | |
7 | g.44145680A>T | CA367399156 | GCK | c.*1068T>A (n.*1068T>A) c.*190T>A (n.*190T>A) n.296T>A c.104T>A (p.Leu35Gln) c.1073T>A (p.Leu358Gln) c.1070T>A (p.Leu357Gln) c.1133T>A (p.Leu378Gln) n.82T>A c.122T>A (p.Leu41Gln) c.1067T>A (p.Leu356Gln) c.1019T>A (p.Leu340Gln) n.450T>A n.368T>A c.59T>A (p.Leu20Gln) c.-71T>A (n.-71T>A) | |
7 | g.44145681del | CA2695203054 | GCK | c.*1067del (n.*1067del) c.*189del (n.*189del) n.295del c.103del (p.Leu35CysfsTer?) c.1072del (p.Leu358CysfsTer?) c.1069del (p.Leu357CysfsTer?) c.1132del (p.Leu378CysfsTer?) n.81del c.121del (p.Leu41CysfsTer?) c.1066del (p.Leu356CysfsTer?) c.1018del (p.Leu340CysfsTer?) n.449del n.367del c.58del (p.Leu20CysfsTer?) c.-72del (n.-72del) | |
7 | g.44145681G>A | CA454863067 | GCK | c.*1067C>T (n.*1067C>T) c.*189C>T (n.*189C>T) n.295C>T c.103C>T (p.Leu35=) c.1072C>T (p.Leu358=) c.1069C>T (p.Leu357=) c.1132C>T (p.Leu378=) n.81C>T c.121C>T (p.Leu41=) c.1066C>T (p.Leu356=) c.1018C>T (p.Leu340=) n.449C>T n.367C>T c.58C>T (p.Leu20=) c.-72C>T (n.-72C>T) | |
7 | g.44145681G>C | CA367399158 | GCK | c.*1067C>G (n.*1067C>G) c.*189C>G (n.*189C>G) n.295C>G c.103C>G (p.Leu35Val) c.1072C>G (p.Leu358Val) c.1069C>G (p.Leu357Val) c.1132C>G (p.Leu378Val) n.81C>G c.121C>G (p.Leu41Val) c.1066C>G (p.Leu356Val) c.1018C>G (p.Leu340Val) n.449C>G n.367C>G c.58C>G (p.Leu20Val) c.-72C>G (n.-72C>G) | |
7 | g.44145681G>T | CA367399161 | GCK | c.*1067C>A (n.*1067C>A) c.*189C>A (n.*189C>A) n.295C>A c.103C>A (p.Leu35Met) c.1072C>A (p.Leu358Met) c.1069C>A (p.Leu357Met) c.1132C>A (p.Leu378Met) n.81C>A c.121C>A (p.Leu41Met) c.1066C>A (p.Leu356Met) c.1018C>A (p.Leu340Met) n.449C>A n.367C>A c.58C>A (p.Leu20Met) c.-72C>A (n.-72C>A) | gnomAD v4 |
7 | g.44145682C>A | CA157913696 | GCK | c.*1066G>T (n.*1066G>T) c.*188G>T (n.*188G>T) n.294G>T c.102G>T (p.Gly34=) c.1071G>T (p.Gly357=) c.1068G>T (p.Gly356=) c.1131G>T (p.Gly377=) n.80G>T c.120G>T (p.Gly40=) c.1065G>T (p.Gly355=) c.1017G>T (p.Gly339=) n.448G>T n.366G>T c.57G>T (p.Gly19=) c.-73G>T (n.-73G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44145682C= | CA1703612954 | GCK | c.*1066G= (n.*1066G=) c.*188G= (n.*188G=) n.294G= c.102G= (p.Gly34=) c.1071G= (p.Gly357=) c.1068G= (p.Gly356=) c.1131G= (p.Gly377=) n.80G= c.120G= (p.Gly40=) c.1065G= (p.Gly355=) c.1017G= (p.Gly339=) n.448G= n.366G= c.57G= (p.Gly19=) c.-73G= (n.-73G=) | |
7 | g.44145682C>G | CA454863069 | GCK | c.*1066G>C (n.*1066G>C) c.*188G>C (n.*188G>C) n.294G>C c.102G>C (p.Gly34=) c.1071G>C (p.Gly357=) c.1068G>C (p.Gly356=) c.1131G>C (p.Gly377=) n.80G>C c.120G>C (p.Gly40=) c.1065G>C (p.Gly355=) c.1017G>C (p.Gly339=) n.448G>C n.366G>C c.57G>C (p.Gly19=) c.-73G>C (n.-73G>C) | |
7 | g.44145682C>T | CA454863070 | GCK | c.*1066G>A (n.*1066G>A) c.*188G>A (n.*188G>A) n.294G>A c.102G>A (p.Gly34=) c.1071G>A (p.Gly357=) c.1068G>A (p.Gly356=) c.1131G>A (p.Gly377=) n.80G>A c.120G>A (p.Gly40=) c.1065G>A (p.Gly355=) c.1017G>A (p.Gly339=) n.448G>A n.366G>A c.57G>A (p.Gly19=) c.-73G>A (n.-73G>A) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145685del | CA2682581874 | GCK | c.*1066del (n.*1066del) c.*188del (n.*188del) n.294del c.102del (p.Leu35CysfsTer?) c.1071del (p.Leu358CysfsTer?) c.1068del (p.Leu357CysfsTer?) c.1131del (p.Leu378CysfsTer?) n.80del c.120del (p.Leu41CysfsTer?) c.1065del (p.Leu356CysfsTer?) c.1017del (p.Leu340CysfsTer?) n.448del n.366del c.57del (p.Leu20CysfsTer?) c.-73del (n.-73del) | gnomAD v4 |
7 | g.44145683C>A | CA367399166 | GCK | c.*1065G>T (n.*1065G>T) c.*187G>T (n.*187G>T) n.293G>T c.101G>T (p.Gly34Val) c.1070G>T (p.Gly357Val) c.1067G>T (p.Gly356Val) c.1130G>T (p.Gly377Val) n.79G>T c.119G>T (p.Gly40Val) c.1064G>T (p.Gly355Val) c.1016G>T (p.Gly339Val) n.447G>T n.365G>T c.56G>T (p.Gly19Val) c.-74G>T (n.-74G>T) | |
7 | g.44145683C>G | CA367399168 | GCK | c.*1065G>C (n.*1065G>C) c.*187G>C (n.*187G>C) n.293G>C c.101G>C (p.Gly34Ala) c.1070G>C (p.Gly357Ala) c.1067G>C (p.Gly356Ala) c.1130G>C (p.Gly377Ala) n.79G>C c.119G>C (p.Gly40Ala) c.1064G>C (p.Gly355Ala) c.1016G>C (p.Gly339Ala) n.447G>C n.365G>C c.56G>C (p.Gly19Ala) c.-74G>C (n.-74G>C) | |
7 | g.44145683C>T | CA367399171 | GCK | c.*1065G>A (n.*1065G>A) c.*187G>A (n.*187G>A) n.293G>A c.101G>A (p.Gly34Glu) c.1070G>A (p.Gly357Glu) c.1067G>A (p.Gly356Glu) c.1130G>A (p.Gly377Glu) n.79G>A c.119G>A (p.Gly40Glu) c.1064G>A (p.Gly355Glu) c.1016G>A (p.Gly339Glu) n.447G>A n.365G>A c.56G>A (p.Gly19Glu) c.-74G>A (n.-74G>A) | |
7 | g.44145684C>A | CA367399173 | GCK | c.*1064G>T (n.*1064G>T) c.*186G>T (n.*186G>T) n.292G>T c.100G>T (p.Gly34Trp) c.1069G>T (p.Gly357Trp) c.1066G>T (p.Gly356Trp) c.1129G>T (p.Gly377Trp) n.78G>T c.118G>T (p.Gly40Trp) c.1063G>T (p.Gly355Trp) c.1015G>T (p.Gly339Trp) n.446G>T n.364G>T c.55G>T (p.Gly19Trp) c.-75G>T (n.-75G>T) | |
7 | g.44145684C>G | CA367399175 | GCK | c.*1064G>C (n.*1064G>C) c.*186G>C (n.*186G>C) n.292G>C c.100G>C (p.Gly34Arg) c.1069G>C (p.Gly357Arg) c.1066G>C (p.Gly356Arg) c.1129G>C (p.Gly377Arg) n.78G>C c.118G>C (p.Gly40Arg) c.1063G>C (p.Gly355Arg) c.1015G>C (p.Gly339Arg) n.446G>C n.364G>C c.55G>C (p.Gly19Arg) c.-75G>C (n.-75G>C) | |
7 | g.44145684C>T | CA367399177 | GCK | c.*1064G>A (n.*1064G>A) c.*186G>A (n.*186G>A) n.292G>A c.100G>A (p.Gly34Arg) c.1069G>A (p.Gly357Arg) c.1066G>A (p.Gly356Arg) c.1129G>A (p.Gly377Arg) n.78G>A c.118G>A (p.Gly40Arg) c.1063G>A (p.Gly355Arg) c.1015G>A (p.Gly339Arg) n.446G>A n.364G>A c.55G>A (p.Gly19Arg) c.-75G>A (n.-75G>A) | gnomAD v4 |
7 | g.44145685C>A | CA454863072 | GCK | c.*1063G>T (n.*1063G>T) c.*185G>T (n.*185G>T) n.291G>T c.99G>T (p.Leu33=) c.1068G>T (p.Leu356=) c.1065G>T (p.Leu355=) c.1128G>T (p.Leu376=) n.77G>T c.117G>T (p.Leu39=) c.1062G>T (p.Leu354=) c.1014G>T (p.Leu338=) n.445G>T n.363G>T c.54G>T (p.Leu18=) c.-76G>T (n.-76G>T) | |
7 | g.44145685C>G | CA454863075 | GCK | c.*1063G>C (n.*1063G>C) c.*185G>C (n.*185G>C) n.291G>C c.99G>C (p.Leu33=) c.1068G>C (p.Leu356=) c.1065G>C (p.Leu355=) c.1128G>C (p.Leu376=) n.77G>C c.117G>C (p.Leu39=) c.1062G>C (p.Leu354=) c.1014G>C (p.Leu338=) n.445G>C n.363G>C c.54G>C (p.Leu18=) c.-76G>C (n.-76G>C) | gnomAD v4 |
7 | g.44145685C>T | CA454863076 | GCK | c.*1063G>A (n.*1063G>A) c.*185G>A (n.*185G>A) n.291G>A c.99G>A (p.Leu33=) c.1068G>A (p.Leu356=) c.1065G>A (p.Leu355=) c.1128G>A (p.Leu376=) n.77G>A c.117G>A (p.Leu39=) c.1062G>A (p.Leu354=) c.1014G>A (p.Leu338=) n.445G>A n.363G>A c.54G>A (p.Leu18=) c.-76G>A (n.-76G>A) | |
7 | g.44145686A= | CA1703612955 | GCK | c.*1062T= (n.*1062T=) c.*184T= (n.*184T=) n.290T= c.98T= (p.Leu33=) c.1067T= (p.Leu356=) c.1064T= (p.Leu355=) c.1127T= (p.Leu376=) n.76T= c.116T= (p.Leu39=) c.1061T= (p.Leu354=) c.1013T= (p.Leu338=) n.444T= n.362T= c.53T= (p.Leu18=) c.-77T= (n.-77T=) | |
7 | g.44145686A>C | CA367399184 | GCK | c.*1062T>G (n.*1062T>G) c.*184T>G (n.*184T>G) n.290T>G c.98T>G (p.Leu33Arg) c.1067T>G (p.Leu356Arg) c.1064T>G (p.Leu355Arg) c.1127T>G (p.Leu376Arg) n.76T>G c.116T>G (p.Leu39Arg) c.1061T>G (p.Leu354Arg) c.1013T>G (p.Leu338Arg) n.444T>G n.362T>G c.53T>G (p.Leu18Arg) c.-77T>G (n.-77T>G) | |
7 | g.44145686A>G | CA367399180 | GCK | c.*1062T>C (n.*1062T>C) c.*184T>C (n.*184T>C) n.290T>C c.98T>C (p.Leu33Pro) c.1067T>C (p.Leu356Pro) c.1064T>C (p.Leu355Pro) c.1127T>C (p.Leu376Pro) n.76T>C c.116T>C (p.Leu39Pro) c.1061T>C (p.Leu354Pro) c.1013T>C (p.Leu338Pro) n.444T>C n.362T>C c.53T>C (p.Leu18Pro) c.-77T>C (n.-77T>C) | ClinVar dbSNP gnomAD v4 |
7 | g.44145686A>T | CA367399182 | GCK | c.*1062T>A (n.*1062T>A) c.*184T>A (n.*184T>A) n.290T>A c.98T>A (p.Leu33Gln) c.1067T>A (p.Leu356Gln) c.1064T>A (p.Leu355Gln) c.1127T>A (p.Leu376Gln) n.76T>A c.116T>A (p.Leu39Gln) c.1061T>A (p.Leu354Gln) c.1013T>A (p.Leu338Gln) n.444T>A n.362T>A c.53T>A (p.Leu18Gln) c.-77T>A (n.-77T>A) | |
7 | g.44145687G>A | CA4239439 | GCK | c.*1061C>T (n.*1061C>T) c.*183C>T (n.*183C>T) n.289C>T c.97C>T (p.Leu33=) c.1066C>T (p.Leu356=) c.1063C>T (p.Leu355=) c.1126C>T (p.Leu376=) n.75C>T c.115C>T (p.Leu39=) c.1060C>T (p.Leu354=) c.1012C>T (p.Leu338=) n.443C>T n.361C>T c.52C>T (p.Leu18=) c.-78C>T (n.-78C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44145687G>C | CA367399187 | GCK | c.*1061C>G (n.*1061C>G) c.*183C>G (n.*183C>G) n.289C>G c.97C>G (p.Leu33Val) c.1066C>G (p.Leu356Val) c.1063C>G (p.Leu355Val) c.1126C>G (p.Leu376Val) n.75C>G c.115C>G (p.Leu39Val) c.1060C>G (p.Leu354Val) c.1012C>G (p.Leu338Val) n.443C>G n.361C>G c.52C>G (p.Leu18Val) c.-78C>G (n.-78C>G) | |
7 | g.44145687G= | CA1703612956 | GCK | c.*1061C= (n.*1061C=) c.*183C= (n.*183C=) n.289C= c.97C= (p.Leu33=) c.1066C= (p.Leu356=) c.1063C= (p.Leu355=) c.1126C= (p.Leu376=) n.75C= c.115C= (p.Leu39=) c.1060C= (p.Leu354=) c.1012C= (p.Leu338=) n.443C= n.361C= c.52C= (p.Leu18=) c.-78C= (n.-78C=) | |
7 | g.44145687G>T | CA367399190 | GCK | c.*1061C>A (n.*1061C>A) c.*183C>A (n.*183C>A) n.289C>A c.97C>A (p.Leu33Met) c.1066C>A (p.Leu356Met) c.1063C>A (p.Leu355Met) c.1126C>A (p.Leu376Met) n.75C>A c.115C>A (p.Leu39Met) c.1060C>A (p.Leu354Met) c.1012C>A (p.Leu338Met) n.443C>A n.361C>A c.52C>A (p.Leu18Met) c.-78C>A (n.-78C>A) | gnomAD v4 |
7 | g.44145688C>A | CA454863080 | GCK | c.*1060G>T (n.*1060G>T) c.*182G>T (n.*182G>T) n.288G>T c.96G>T (p.Thr32=) c.1065G>T (p.Thr355=) c.1062G>T (p.Thr354=) c.1125G>T (p.Thr375=) n.74G>T c.114G>T (p.Thr38=) c.1059G>T (p.Thr353=) c.1011G>T (p.Thr337=) n.442G>T n.360G>T c.51G>T (p.Thr17=) c.-79G>T (n.-79G>T) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.44145688C= | CA1703612957 | GCK | c.*1060G= (n.*1060G=) c.*182G= (n.*182G=) n.288G= c.96G= (p.Thr32=) c.1065G= (p.Thr355=) c.1062G= (p.Thr354=) c.1125G= (p.Thr375=) n.74G= c.114G= (p.Thr38=) c.1059G= (p.Thr353=) c.1011G= (p.Thr337=) n.442G= n.360G= c.51G= (p.Thr17=) c.-79G= (n.-79G=) | |
7 | g.44145688C>G | CA454863081 | GCK | c.*1060G>C (n.*1060G>C) c.*182G>C (n.*182G>C) n.288G>C c.96G>C (p.Thr32=) c.1065G>C (p.Thr355=) c.1062G>C (p.Thr354=) c.1125G>C (p.Thr375=) n.74G>C c.114G>C (p.Thr38=) c.1059G>C (p.Thr353=) c.1011G>C (p.Thr337=) n.442G>C n.360G>C c.51G>C (p.Thr17=) c.-79G>C (n.-79G>C) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145688C>T | CA454863082 | GCK | c.*1060G>A (n.*1060G>A) c.*182G>A (n.*182G>A) n.288G>A c.96G>A (p.Thr32=) c.1065G>A (p.Thr355=) c.1062G>A (p.Thr354=) c.1125G>A (p.Thr375=) n.74G>A c.114G>A (p.Thr38=) c.1059G>A (p.Thr353=) c.1011G>A (p.Thr337=) n.442G>A n.360G>A c.51G>A (p.Thr17=) c.-79G>A (n.-79G>A) | gnomAD v4 |
7 | g.44145689G>A | CA367399193 | GCK | c.*1059C>T (n.*1059C>T) c.*181C>T (n.*181C>T) n.287C>T c.95C>T (p.Thr32Met) c.1064C>T (p.Thr355Met) c.1061C>T (p.Thr354Met) c.1124C>T (p.Thr375Met) n.73C>T c.113C>T (p.Thr38Met) c.1058C>T (p.Thr353Met) c.1010C>T (p.Thr337Met) n.441C>T n.359C>T c.50C>T (p.Thr17Met) c.-80C>T (n.-80C>T) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145689G>C | CA367399194 | GCK | c.*1059C>G (n.*1059C>G) c.*181C>G (n.*181C>G) n.287C>G c.95C>G (p.Thr32Arg) c.1064C>G (p.Thr355Arg) c.1061C>G (p.Thr354Arg) c.1124C>G (p.Thr375Arg) n.73C>G c.113C>G (p.Thr38Arg) c.1058C>G (p.Thr353Arg) c.1010C>G (p.Thr337Arg) n.441C>G n.359C>G c.50C>G (p.Thr17Arg) c.-80C>G (n.-80C>G) | |
7 | g.44145689G= | CA1703612958 | GCK | c.*1059C= (n.*1059C=) c.*181C= (n.*181C=) n.287C= c.95C= (p.Thr32=) c.1064C= (p.Thr355=) c.1061C= (p.Thr354=) c.1124C= (p.Thr375=) n.73C= c.113C= (p.Thr38=) c.1058C= (p.Thr353=) c.1010C= (p.Thr337=) n.441C= n.359C= c.50C= (p.Thr17=) c.-80C= (n.-80C=) | |
7 | g.44145689G>T | CA367399195 | GCK | c.*1059C>A (n.*1059C>A) c.*181C>A (n.*181C>A) n.287C>A c.95C>A (p.Thr32Lys) c.1064C>A (p.Thr355Lys) c.1061C>A (p.Thr354Lys) c.1124C>A (p.Thr375Lys) n.73C>A c.113C>A (p.Thr38Lys) c.1058C>A (p.Thr353Lys) c.1010C>A (p.Thr337Lys) n.441C>A n.359C>A c.50C>A (p.Thr17Lys) c.-80C>A (n.-80C>A) | gnomAD v4 |
7 | g.44145690T>A | CA367399200 | GCK | c.*1058A>T (n.*1058A>T) c.*180A>T (n.*180A>T) n.286A>T c.94A>T (p.Thr32Ser) c.1063A>T (p.Thr355Ser) c.1060A>T (p.Thr354Ser) c.1123A>T (p.Thr375Ser) n.72A>T c.112A>T (p.Thr38Ser) c.1057A>T (p.Thr353Ser) c.1009A>T (p.Thr337Ser) n.440A>T n.358A>T c.49A>T (p.Thr17Ser) c.-81A>T (n.-81A>T) | |
7 | g.44145690T>C | CA367399201 | GCK | c.*1058A>G (n.*1058A>G) c.*180A>G (n.*180A>G) n.286A>G c.94A>G (p.Thr32Ala) c.1063A>G (p.Thr355Ala) c.1060A>G (p.Thr354Ala) c.1123A>G (p.Thr375Ala) n.72A>G c.112A>G (p.Thr38Ala) c.1057A>G (p.Thr353Ala) c.1009A>G (p.Thr337Ala) n.440A>G n.358A>G c.49A>G (p.Thr17Ala) c.-81A>G (n.-81A>G) | gnomAD v4 |
7 | g.44145690T>G | CA367399204 | GCK | c.*1058A>C (n.*1058A>C) c.*180A>C (n.*180A>C) n.286A>C c.94A>C (p.Thr32Pro) c.1063A>C (p.Thr355Pro) c.1060A>C (p.Thr354Pro) c.1123A>C (p.Thr375Pro) n.72A>C c.112A>C (p.Thr38Pro) c.1057A>C (p.Thr353Pro) c.1009A>C (p.Thr337Pro) n.440A>C n.358A>C c.49A>C (p.Thr17Pro) c.-81A>C (n.-81A>C) | |
7 | g.44145691G>A | CA454863084 | GCK | c.*1057C>T (n.*1057C>T) c.*179C>T (n.*179C>T) n.285C>T c.93C>T (p.Ser31=) c.1062C>T (p.Ser354=) c.1059C>T (p.Ser353=) c.1122C>T (p.Ser374=) n.71C>T c.111C>T (p.Ser37=) c.1056C>T (p.Ser352=) c.1008C>T (p.Ser336=) n.439C>T n.357C>T c.48C>T (p.Ser16=) c.-82C>T (n.-82C>T) | gnomAD v4 |
7 | g.44145691G>C | CA367399206 | GCK | c.*1057C>G (n.*1057C>G) c.*179C>G (n.*179C>G) n.285C>G c.93C>G (p.Ser31Arg) c.1062C>G (p.Ser354Arg) c.1059C>G (p.Ser353Arg) c.1122C>G (p.Ser374Arg) n.71C>G c.111C>G (p.Ser37Arg) c.1056C>G (p.Ser352Arg) c.1008C>G (p.Ser336Arg) n.439C>G n.357C>G c.48C>G (p.Ser16Arg) c.-82C>G (n.-82C>G) | |
7 | g.44145691G>T | CA367399209 | GCK | c.*1057C>A (n.*1057C>A) c.*179C>A (n.*179C>A) n.285C>A c.93C>A (p.Ser31Arg) c.1062C>A (p.Ser354Arg) c.1059C>A (p.Ser353Arg) c.1122C>A (p.Ser374Arg) n.71C>A c.111C>A (p.Ser37Arg) c.1056C>A (p.Ser352Arg) c.1008C>A (p.Ser336Arg) n.439C>A n.357C>A c.48C>A (p.Ser16Arg) c.-82C>A (n.-82C>A) | gnomAD v4 |