WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| 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.44145590G>A | CA213727 | GCK | c.*1158C>T (n.*1158C>T) c.*280C>T (n.*280C>T) n.386C>T c.194C>T (p.Ala65Val) c.1163C>T (p.Ala388Val) c.1160C>T (p.Ala387Val) c.1223C>T (p.Ala408Val) n.172C>T c.212C>T (p.Ala71Val) c.1157C>T (p.Ala386Val) c.1109C>T (p.Ala370Val) n.540C>T c.149C>T (p.Ala50Val) c.20C>T (p.Ala7Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44145590G>C | CA367398687 | GCK | c.*1158C>G (n.*1158C>G) c.*280C>G (n.*280C>G) n.386C>G c.194C>G (p.Ala65Gly) c.1163C>G (p.Ala388Gly) c.1160C>G (p.Ala387Gly) c.1223C>G (p.Ala408Gly) n.172C>G c.212C>G (p.Ala71Gly) c.1157C>G (p.Ala386Gly) c.1109C>G (p.Ala370Gly) n.540C>G c.149C>G (p.Ala50Gly) c.20C>G (p.Ala7Gly) | gnomAD v4 |
| 7 | g.44145590G= | CA1703612894 | GCK | c.*1158C= (n.*1158C=) c.*280C= (n.*280C=) n.386C= c.194C= (p.Ala65=) c.1163C= (p.Ala388=) c.1160C= (p.Ala387=) c.1223C= (p.Ala408=) n.172C= c.212C= (p.Ala71=) c.1157C= (p.Ala386=) c.1109C= (p.Ala370=) n.540C= c.149C= (p.Ala50=) c.20C= (p.Ala7=) | |
| 7 | g.44145590G>T | CA213725 | GCK | c.*1158C>A (n.*1158C>A) c.*280C>A (n.*280C>A) n.386C>A c.194C>A (p.Ala65Glu) c.1163C>A (p.Ala388Glu) c.1160C>A (p.Ala387Glu) c.1223C>A (p.Ala408Glu) n.172C>A c.212C>A (p.Ala71Glu) c.1157C>A (p.Ala386Glu) c.1109C>A (p.Ala370Glu) n.540C>A c.149C>A (p.Ala50Glu) c.20C>A (p.Ala7Glu) | ClinVar dbSNP gnomAD v2 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) | |
| 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 |