| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44145170_44145588del | CA2573142177 | GCK | c.*1163_*1365del c.*285_*487del n.391_593del c.199_401del c.1168_1370del c.1165_1367del c.1228_1430del n.177_379del c.217_419del c.1162_1364del c.1114_1316del n.545_747del c.154_356del c.25_227del | ClinVar |
| 7 | g.44145489_44145563dup | CA2580618176 | GCK | c.*1188_*1251+11dup c.*310_*373+11dup n.416_479+11dup c.224_287+11dup c.1193_1256+11dup c.1190_1253+11dup c.1253_1316+11dup n.202_265+11dup c.242_305+11dup c.1187_1250+11dup c.1139_1202+11dup n.570_633+11dup c.179_242+11dup c.50_113+11dup | ClinVar |
| 7 | g.44145521_44145539del | CA2695202980 | GCK | c.*1209_*1227del (n.*1209_*1227del) c.*331_*349del (n.*331_*349del) n.437_455del c.245_263del (p.Ile82ThrfsTer21) c.1214_1232del (p.Ile405ThrfsTer21) c.1211_1229del (p.Ile404ThrfsTer21) c.1274_1292del (p.Ile425ThrfsTer21) n.223_241del c.263_281del (p.Ile88ThrfsTer21) c.1208_1226del (p.Ile403ThrfsTer21) c.1160_1178del (p.Ile387ThrfsTer21) n.591_609del c.200_218del (p.Ile67ThrfsTer21) c.71_89del (p.Ile24ThrfsTer21) | |
| 7 | g.44145527_44145531del | CA2695202982 | GCK | c.*1219_*1223del (n.*1219_*1223del) c.*341_*345del (n.*341_*345del) n.447_451del c.255_259del (p.Val86TrpfsTer?) c.1224_1228del (p.Val409TrpfsTer?) c.1221_1225del (p.Val408TrpfsTer?) c.1284_1288del (p.Val429TrpfsTer?) n.233_237del c.273_277del (p.Val92TrpfsTer?) c.1218_1222del (p.Val407TrpfsTer?) c.1170_1174del (p.Val391TrpfsTer?) n.601_605del c.210_214del (p.Val71TrpfsTer?) c.81_85del (p.Val28TrpfsTer?) | |
| 7 | g.44145526C>A | CA454863132 | GCK | c.*1222G>T (n.*1222G>T) c.*344G>T (n.*344G>T) n.450G>T c.258G>T (p.Val86=) c.1227G>T (p.Val409=) c.1224G>T (p.Val408=) c.1287G>T (p.Val429=) n.236G>T c.276G>T (p.Val92=) c.1221G>T (p.Val407=) c.1173G>T (p.Val391=) n.604G>T c.213G>T (p.Val71=) c.84G>T (p.Val28=) | |
| 7 | g.44145526C= | CA1703612856 | GCK | c.*1222G= (n.*1222G=) c.*344G= (n.*344G=) n.450G= c.258G= (p.Val86=) c.1227G= (p.Val409=) c.1224G= (p.Val408=) c.1287G= (p.Val429=) n.236G= c.276G= (p.Val92=) c.1221G= (p.Val407=) c.1173G= (p.Val391=) n.604G= c.213G= (p.Val71=) c.84G= (p.Val28=) | |
| 7 | g.44145526C>G | CA454863133 | GCK | c.*1222G>C (n.*1222G>C) c.*344G>C (n.*344G>C) n.450G>C c.258G>C (p.Val86=) c.1227G>C (p.Val409=) c.1224G>C (p.Val408=) c.1287G>C (p.Val429=) n.236G>C c.276G>C (p.Val92=) c.1221G>C (p.Val407=) c.1173G>C (p.Val391=) n.604G>C c.213G>C (p.Val71=) c.84G>C (p.Val28=) | |
| 7 | g.44145526C>T | CA454863134 | GCK | c.*1222G>A (n.*1222G>A) c.*344G>A (n.*344G>A) n.450G>A c.258G>A (p.Val86=) c.1227G>A (p.Val409=) c.1224G>A (p.Val408=) c.1287G>A (p.Val429=) n.236G>A c.276G>A (p.Val92=) c.1221G>A (p.Val407=) c.1173G>A (p.Val391=) n.604G>A c.213G>A (p.Val71=) c.84G>A (p.Val28=) | dbSNP |
| 7 | g.44145527A>C | CA367398334 | GCK | c.*1221T>G (n.*1221T>G) c.*343T>G (n.*343T>G) n.449T>G c.257T>G (p.Val86Gly) c.1226T>G (p.Val409Gly) c.1223T>G (p.Val408Gly) c.1286T>G (p.Val429Gly) n.235T>G c.275T>G (p.Val92Gly) c.1220T>G (p.Val407Gly) c.1172T>G (p.Val391Gly) n.603T>G c.212T>G (p.Val71Gly) c.83T>G (p.Val28Gly) | |
| 7 | g.44145527A>G | CA367398338 | GCK | c.*1221T>C (n.*1221T>C) c.*343T>C (n.*343T>C) n.449T>C c.257T>C (p.Val86Ala) c.1226T>C (p.Val409Ala) c.1223T>C (p.Val408Ala) c.1286T>C (p.Val429Ala) n.235T>C c.275T>C (p.Val92Ala) c.1220T>C (p.Val407Ala) c.1172T>C (p.Val391Ala) n.603T>C c.212T>C (p.Val71Ala) c.83T>C (p.Val28Ala) | |
| 7 | g.44145527A>T | CA367398336 | GCK | c.*1221T>A (n.*1221T>A) c.*343T>A (n.*343T>A) n.449T>A c.257T>A (p.Val86Glu) c.1226T>A (p.Val409Glu) c.1223T>A (p.Val408Glu) c.1286T>A (p.Val429Glu) n.235T>A c.275T>A (p.Val92Glu) c.1220T>A (p.Val407Glu) c.1172T>A (p.Val391Glu) n.603T>A c.212T>A (p.Val71Glu) c.83T>A (p.Val28Glu) | |
| 7 | g.44145528C>A | CA367398341 | GCK | c.*1220G>T (n.*1220G>T) c.*342G>T (n.*342G>T) n.448G>T c.256G>T (p.Val86Leu) c.1225G>T (p.Val409Leu) c.1222G>T (p.Val408Leu) c.1285G>T (p.Val429Leu) n.234G>T c.274G>T (p.Val92Leu) c.1219G>T (p.Val407Leu) c.1171G>T (p.Val391Leu) n.602G>T c.211G>T (p.Val71Leu) c.82G>T (p.Val28Leu) | |
| 7 | g.44145528C= | CA1703612857 | GCK | c.*1220G= (n.*1220G=) c.*342G= (n.*342G=) n.448G= c.256G= (p.Val86=) c.1225G= (p.Val409=) c.1222G= (p.Val408=) c.1285G= (p.Val429=) n.234G= c.274G= (p.Val92=) c.1219G= (p.Val407=) c.1171G= (p.Val391=) n.602G= c.211G= (p.Val71=) c.82G= (p.Val28=) | |
| 7 | g.44145528C>G | CA367398344 | GCK | c.*1220G>C (n.*1220G>C) c.*342G>C (n.*342G>C) n.448G>C c.256G>C (p.Val86Leu) c.1225G>C (p.Val409Leu) c.1222G>C (p.Val408Leu) c.1285G>C (p.Val429Leu) n.234G>C c.274G>C (p.Val92Leu) c.1219G>C (p.Val407Leu) c.1171G>C (p.Val391Leu) n.602G>C c.211G>C (p.Val71Leu) c.82G>C (p.Val28Leu) | |
| 7 | g.44145528C>T | CA367398343 | GCK | c.*1220G>A (n.*1220G>A) c.*342G>A (n.*342G>A) n.448G>A c.256G>A (p.Val86Met) c.1225G>A (p.Val409Met) c.1222G>A (p.Val408Met) c.1285G>A (p.Val429Met) n.234G>A c.274G>A (p.Val92Met) c.1219G>A (p.Val407Met) c.1171G>A (p.Val391Met) n.602G>A c.211G>A (p.Val71Met) c.82G>A (p.Val28Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44145529G>A | CA454863135 | GCK | c.*1219C>T (n.*1219C>T) c.*341C>T (n.*341C>T) n.447C>T c.255C>T (p.Gly85=) c.1224C>T (p.Gly408=) c.1221C>T (p.Gly407=) c.1284C>T (p.Gly428=) n.233C>T c.273C>T (p.Gly91=) c.1218C>T (p.Gly406=) c.1170C>T (p.Gly390=) n.601C>T c.210C>T (p.Gly70=) c.81C>T (p.Gly27=) | gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44145529G>C | CA454863136 | GCK | c.*1219C>G (n.*1219C>G) c.*341C>G (n.*341C>G) n.447C>G c.255C>G (p.Gly85=) c.1224C>G (p.Gly408=) c.1221C>G (p.Gly407=) c.1284C>G (p.Gly428=) n.233C>G c.273C>G (p.Gly91=) c.1218C>G (p.Gly406=) c.1170C>G (p.Gly390=) n.601C>G c.210C>G (p.Gly70=) c.81C>G (p.Gly27=) | |
| 7 | g.44145529G= | CA1703612858 | GCK | c.*1219C= (n.*1219C=) c.*341C= (n.*341C=) n.447C= c.255C= (p.Gly85=) c.1224C= (p.Gly408=) c.1221C= (p.Gly407=) c.1284C= (p.Gly428=) n.233C= c.273C= (p.Gly91=) c.1218C= (p.Gly406=) c.1170C= (p.Gly390=) n.601C= c.210C= (p.Gly70=) c.81C= (p.Gly27=) | |
| 7 | g.44145529G>T | CA4239412 | GCK | c.*1219C>A (n.*1219C>A) c.*341C>A (n.*341C>A) n.447C>A c.255C>A (p.Gly85=) c.1224C>A (p.Gly408=) c.1221C>A (p.Gly407=) c.1284C>A (p.Gly428=) n.233C>A c.273C>A (p.Gly91=) c.1218C>A (p.Gly406=) c.1170C>A (p.Gly390=) n.601C>A c.210C>A (p.Gly70=) c.81C>A (p.Gly27=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44145530C>A | CA367398345 | GCK | c.*1218G>T (n.*1218G>T) c.*340G>T (n.*340G>T) n.446G>T c.254G>T (p.Gly85Val) c.1223G>T (p.Gly408Val) c.1220G>T (p.Gly407Val) c.1283G>T (p.Gly428Val) n.232G>T c.272G>T (p.Gly91Val) c.1217G>T (p.Gly406Val) c.1169G>T (p.Gly390Val) n.600G>T c.209G>T (p.Gly70Val) c.80G>T (p.Gly27Val) | |
| 7 | g.44145530C>G | CA367398348 | GCK | c.*1218G>C (n.*1218G>C) c.*340G>C (n.*340G>C) n.446G>C c.254G>C (p.Gly85Ala) c.1223G>C (p.Gly408Ala) c.1220G>C (p.Gly407Ala) c.1283G>C (p.Gly428Ala) n.232G>C c.272G>C (p.Gly91Ala) c.1217G>C (p.Gly406Ala) c.1169G>C (p.Gly390Ala) n.600G>C c.209G>C (p.Gly70Ala) c.80G>C (p.Gly27Ala) | |
| 7 | g.44145530C>T | CA367398350 | GCK | c.*1218G>A (n.*1218G>A) c.*340G>A (n.*340G>A) n.446G>A c.254G>A (p.Gly85Asp) c.1223G>A (p.Gly408Asp) c.1220G>A (p.Gly407Asp) c.1283G>A (p.Gly428Asp) n.232G>A c.272G>A (p.Gly91Asp) c.1217G>A (p.Gly406Asp) c.1169G>A (p.Gly390Asp) n.600G>A c.209G>A (p.Gly70Asp) c.80G>A (p.Gly27Asp) | ClinVar |
| 7 | g.44145531C>A | CA367398353 | GCK | c.*1217G>T (n.*1217G>T) c.*339G>T (n.*339G>T) n.445G>T c.253G>T (p.Gly85Cys) c.1222G>T (p.Gly408Cys) c.1219G>T (p.Gly407Cys) c.1282G>T (p.Gly428Cys) n.231G>T c.271G>T (p.Gly91Cys) c.1216G>T (p.Gly406Cys) c.1168G>T (p.Gly390Cys) n.599G>T c.208G>T (p.Gly70Cys) c.79G>T (p.Gly27Cys) | gnomAD v4 |
| 7 | g.44145531C= | CA1703612859 | GCK | c.*1217G= (n.*1217G=) c.*339G= (n.*339G=) n.445G= c.253G= (p.Gly85=) c.1222G= (p.Gly408=) c.1219G= (p.Gly407=) c.1282G= (p.Gly428=) n.231G= c.271G= (p.Gly91=) c.1216G= (p.Gly406=) c.1168G= (p.Gly390=) n.599G= c.208G= (p.Gly70=) c.79G= (p.Gly27=) | |
| 7 | g.44145531C>G | CA367398355 | GCK | c.*1217G>C (n.*1217G>C) c.*339G>C (n.*339G>C) n.445G>C c.253G>C (p.Gly85Arg) c.1222G>C (p.Gly408Arg) c.1219G>C (p.Gly407Arg) c.1282G>C (p.Gly428Arg) n.231G>C c.271G>C (p.Gly91Arg) c.1216G>C (p.Gly406Arg) c.1168G>C (p.Gly390Arg) n.599G>C c.208G>C (p.Gly70Arg) c.79G>C (p.Gly27Arg) | ClinVar |
| 7 | g.44145531C>T | CA367398357 | GCK | c.*1217G>A (n.*1217G>A) c.*339G>A (n.*339G>A) n.445G>A c.253G>A (p.Gly85Ser) c.1222G>A (p.Gly408Ser) c.1219G>A (p.Gly407Ser) c.1282G>A (p.Gly428Ser) n.231G>A c.271G>A (p.Gly91Ser) c.1216G>A (p.Gly406Ser) c.1168G>A (p.Gly390Ser) n.599G>A c.208G>A (p.Gly70Ser) c.79G>A (p.Gly27Ser) | ClinVar dbSNP |
| 7 | g.44145532_44145534dup | CA2499218894 | GCK | c.*1215_*1217dup (n.*1215_*1217dup) c.*337_*339dup (n.*337_*339dup) n.443_445dup c.251_253dup (p.Val84_Gly85insVal) c.1220_1222dup (p.Val407_Gly408insVal) c.1217_1219dup (p.Val406_Gly407insVal) c.1280_1282dup (p.Val427_Gly428insVal) n.229_231dup c.269_271dup (p.Val90_Gly91insVal) c.1214_1216dup (p.Val405_Gly406insVal) c.1166_1168dup (p.Val389_Gly390insVal) n.597_599dup c.206_208dup (p.Val69_Gly70insVal) c.77_79dup (p.Val26_Gly27insVal) | ClinVar dbSNP |
| 7 | g.44145532C>A | CA454863141 | GCK | c.*1216G>T (n.*1216G>T) c.*338G>T (n.*338G>T) n.444G>T c.252G>T (p.Val84=) c.1221G>T (p.Val407=) c.1218G>T (p.Val406=) c.1281G>T (p.Val427=) n.230G>T c.270G>T (p.Val90=) c.1215G>T (p.Val405=) c.1167G>T (p.Val389=) n.598G>T c.207G>T (p.Val69=) c.78G>T (p.Val26=) | dbSNP gnomAD v4 |
| 7 | g.44145532C= | CA1703612860 | GCK | c.*1216G= (n.*1216G=) c.*338G= (n.*338G=) n.444G= c.252G= (p.Val84=) c.1221G= (p.Val407=) c.1218G= (p.Val406=) c.1281G= (p.Val427=) n.230G= c.270G= (p.Val90=) c.1215G= (p.Val405=) c.1167G= (p.Val389=) n.598G= c.207G= (p.Val69=) c.78G= (p.Val26=) | |
| 7 | g.44145532C>G | CA454863142 | GCK | c.*1216G>C (n.*1216G>C) c.*338G>C (n.*338G>C) n.444G>C c.252G>C (p.Val84=) c.1221G>C (p.Val407=) c.1218G>C (p.Val406=) c.1281G>C (p.Val427=) n.230G>C c.270G>C (p.Val90=) c.1215G>C (p.Val405=) c.1167G>C (p.Val389=) n.598G>C c.207G>C (p.Val69=) c.78G>C (p.Val26=) | |
| 7 | g.44145532C>T | CA454863140 | GCK | c.*1216G>A (n.*1216G>A) c.*338G>A (n.*338G>A) n.444G>A c.252G>A (p.Val84=) c.1221G>A (p.Val407=) c.1218G>A (p.Val406=) c.1281G>A (p.Val427=) n.230G>A c.270G>A (p.Val90=) c.1215G>A (p.Val405=) c.1167G>A (p.Val389=) n.598G>A c.207G>A (p.Val69=) c.78G>A (p.Val26=) | |
| 7 | g.44145533A>C | CA367398360 | GCK | c.*1215T>G (n.*1215T>G) c.*337T>G (n.*337T>G) n.443T>G c.251T>G (p.Val84Gly) c.1220T>G (p.Val407Gly) c.1217T>G (p.Val406Gly) c.1280T>G (p.Val427Gly) n.229T>G c.269T>G (p.Val90Gly) c.1214T>G (p.Val405Gly) c.1166T>G (p.Val389Gly) n.597T>G c.206T>G (p.Val69Gly) c.77T>G (p.Val26Gly) | |
| 7 | g.44145533A>G | CA367398363 | GCK | c.*1215T>C (n.*1215T>C) c.*337T>C (n.*337T>C) n.443T>C c.251T>C (p.Val84Ala) c.1220T>C (p.Val407Ala) c.1217T>C (p.Val406Ala) c.1280T>C (p.Val427Ala) n.229T>C c.269T>C (p.Val90Ala) c.1214T>C (p.Val405Ala) c.1166T>C (p.Val389Ala) n.597T>C c.206T>C (p.Val69Ala) c.77T>C (p.Val26Ala) | ClinVar |
| 7 | g.44145533A>T | CA367398365 | GCK | c.*1215T>A (n.*1215T>A) c.*337T>A (n.*337T>A) n.443T>A c.251T>A (p.Val84Glu) c.1220T>A (p.Val407Glu) c.1217T>A (p.Val406Glu) c.1280T>A (p.Val427Glu) n.229T>A c.269T>A (p.Val90Glu) c.1214T>A (p.Val405Glu) c.1166T>A (p.Val389Glu) n.597T>A c.206T>A (p.Val69Glu) c.77T>A (p.Val26Glu) | |
| 7 | g.44145534C>A | CA367398371 | GCK | c.*1214G>T (n.*1214G>T) c.*336G>T (n.*336G>T) n.442G>T c.250G>T (p.Val84Leu) c.1219G>T (p.Val407Leu) c.1216G>T (p.Val406Leu) c.1279G>T (p.Val427Leu) n.228G>T c.268G>T (p.Val90Leu) c.1213G>T (p.Val405Leu) c.1165G>T (p.Val389Leu) n.596G>T c.205G>T (p.Val69Leu) c.76G>T (p.Val26Leu) | gnomAD v4 |
| 7 | g.44145534C>G | CA367398370 | GCK | c.*1214G>C (n.*1214G>C) c.*336G>C (n.*336G>C) n.442G>C c.250G>C (p.Val84Leu) c.1219G>C (p.Val407Leu) c.1216G>C (p.Val406Leu) c.1279G>C (p.Val427Leu) n.228G>C c.268G>C (p.Val90Leu) c.1213G>C (p.Val405Leu) c.1165G>C (p.Val389Leu) n.596G>C c.205G>C (p.Val69Leu) c.76G>C (p.Val26Leu) | |
| 7 | g.44145534C>T | CA367398367 | GCK | c.*1214G>A (n.*1214G>A) c.*336G>A (n.*336G>A) n.442G>A c.250G>A (p.Val84Met) c.1219G>A (p.Val407Met) c.1216G>A (p.Val406Met) c.1279G>A (p.Val427Met) n.228G>A c.268G>A (p.Val90Met) c.1213G>A (p.Val405Met) c.1165G>A (p.Val389Met) n.596G>A c.205G>A (p.Val69Met) c.76G>A (p.Val26Met) | ClinVar dbSNP gnomAD v4 |
| 7 | g.44145535A= | CA1703612861 | GCK | c.*1213T= (n.*1213T=) c.*335T= (n.*335T=) n.441T= c.249T= (p.Thr83=) c.1218T= (p.Thr406=) c.1215T= (p.Thr405=) c.1278T= (p.Thr426=) n.227T= c.267T= (p.Thr89=) c.1212T= (p.Thr404=) c.1164T= (p.Thr388=) n.595T= c.204T= (p.Thr68=) c.75T= (p.Thr25=) | |
| 7 | g.44145535A>C | CA454863143 | GCK | c.*1213T>G (n.*1213T>G) c.*335T>G (n.*335T>G) n.441T>G c.249T>G (p.Thr83=) c.1218T>G (p.Thr406=) c.1215T>G (p.Thr405=) c.1278T>G (p.Thr426=) n.227T>G c.267T>G (p.Thr89=) c.1212T>G (p.Thr404=) c.1164T>G (p.Thr388=) n.595T>G c.204T>G (p.Thr68=) c.75T>G (p.Thr25=) | |
| 7 | g.44145535A>G | CA4239413 | GCK | c.*1213T>C (n.*1213T>C) c.*335T>C (n.*335T>C) n.441T>C c.249T>C (p.Thr83=) c.1218T>C (p.Thr406=) c.1215T>C (p.Thr405=) c.1278T>C (p.Thr426=) n.227T>C c.267T>C (p.Thr89=) c.1212T>C (p.Thr404=) c.1164T>C (p.Thr388=) n.595T>C c.204T>C (p.Thr68=) c.75T>C (p.Thr25=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44145535A>T | CA454863144 | GCK | c.*1213T>A (n.*1213T>A) c.*335T>A (n.*335T>A) n.441T>A c.249T>A (p.Thr83=) c.1218T>A (p.Thr406=) c.1215T>A (p.Thr405=) c.1278T>A (p.Thr426=) n.227T>A c.267T>A (p.Thr89=) c.1212T>A (p.Thr404=) c.1164T>A (p.Thr388=) n.595T>A c.204T>A (p.Thr68=) c.75T>A (p.Thr25=) | gnomAD v4 |
| 7 | g.44145536G>A | CA367398375 | GCK | c.*1212C>T (n.*1212C>T) c.*334C>T (n.*334C>T) n.440C>T c.248C>T (p.Thr83Ile) c.1217C>T (p.Thr406Ile) c.1214C>T (p.Thr405Ile) c.1277C>T (p.Thr426Ile) n.226C>T c.266C>T (p.Thr89Ile) c.1211C>T (p.Thr404Ile) c.1163C>T (p.Thr388Ile) n.594C>T c.203C>T (p.Thr68Ile) c.74C>T (p.Thr25Ile) | |
| 7 | g.44145536G>C | CA367398377 | GCK | c.*1212C>G (n.*1212C>G) c.*334C>G (n.*334C>G) n.440C>G c.248C>G (p.Thr83Ser) c.1217C>G (p.Thr406Ser) c.1214C>G (p.Thr405Ser) c.1277C>G (p.Thr426Ser) n.226C>G c.266C>G (p.Thr89Ser) c.1211C>G (p.Thr404Ser) c.1163C>G (p.Thr388Ser) n.594C>G c.203C>G (p.Thr68Ser) c.74C>G (p.Thr25Ser) | |
| 7 | g.44145536G>T | CA367398380 | GCK | c.*1212C>A (n.*1212C>A) c.*334C>A (n.*334C>A) n.440C>A c.248C>A (p.Thr83Asn) c.1217C>A (p.Thr406Asn) c.1214C>A (p.Thr405Asn) c.1277C>A (p.Thr426Asn) n.226C>A c.266C>A (p.Thr89Asn) c.1211C>A (p.Thr404Asn) c.1163C>A (p.Thr388Asn) n.594C>A c.203C>A (p.Thr68Asn) c.74C>A (p.Thr25Asn) | gnomAD v4 |
| 7 | g.44145537T>A | CA367398382 | GCK | c.*1211A>T (n.*1211A>T) c.*333A>T (n.*333A>T) n.439A>T c.247A>T (p.Thr83Ser) c.1216A>T (p.Thr406Ser) c.1213A>T (p.Thr405Ser) c.1276A>T (p.Thr426Ser) n.225A>T c.265A>T (p.Thr89Ser) c.1210A>T (p.Thr404Ser) c.1162A>T (p.Thr388Ser) n.593A>T c.202A>T (p.Thr68Ser) c.73A>T (p.Thr25Ser) | |
| 7 | g.44145537T>C | CA367398384 | GCK | c.*1211A>G (n.*1211A>G) c.*333A>G (n.*333A>G) n.439A>G c.247A>G (p.Thr83Ala) c.1216A>G (p.Thr406Ala) c.1213A>G (p.Thr405Ala) c.1276A>G (p.Thr426Ala) n.225A>G c.265A>G (p.Thr89Ala) c.1210A>G (p.Thr404Ala) c.1162A>G (p.Thr388Ala) n.593A>G c.202A>G (p.Thr68Ala) c.73A>G (p.Thr25Ala) | ClinVar |
| 7 | g.44145537T>G | CA367398392 | GCK | c.*1211A>C (n.*1211A>C) c.*333A>C (n.*333A>C) n.439A>C c.247A>C (p.Thr83Pro) c.1216A>C (p.Thr406Pro) c.1213A>C (p.Thr405Pro) c.1276A>C (p.Thr426Pro) n.225A>C c.265A>C (p.Thr89Pro) c.1210A>C (p.Thr404Pro) c.1162A>C (p.Thr388Pro) n.593A>C c.202A>C (p.Thr68Pro) c.73A>C (p.Thr25Pro) | |
| 7 | g.44145538G>A | CA454863145 | GCK | c.*1210C>T (n.*1210C>T) c.*332C>T (n.*332C>T) n.438C>T c.246C>T (p.Ile82=) c.1215C>T (p.Ile405=) c.1212C>T (p.Ile404=) c.1275C>T (p.Ile425=) n.224C>T c.264C>T (p.Ile88=) c.1209C>T (p.Ile403=) c.1161C>T (p.Ile387=) n.592C>T c.201C>T (p.Ile67=) c.72C>T (p.Ile24=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44145538G>C | CA367398396 | GCK | c.*1210C>G (n.*1210C>G) c.*332C>G (n.*332C>G) n.438C>G c.246C>G (p.Ile82Met) c.1215C>G (p.Ile405Met) c.1212C>G (p.Ile404Met) c.1275C>G (p.Ile425Met) n.224C>G c.264C>G (p.Ile88Met) c.1209C>G (p.Ile403Met) c.1161C>G (p.Ile387Met) n.592C>G c.201C>G (p.Ile67Met) c.72C>G (p.Ile24Met) | |
| 7 | g.44145538G= | CA1703612862 | GCK | c.*1210C= (n.*1210C=) c.*332C= (n.*332C=) n.438C= c.246C= (p.Ile82=) c.1215C= (p.Ile405=) c.1212C= (p.Ile404=) c.1275C= (p.Ile425=) n.224C= c.264C= (p.Ile88=) c.1209C= (p.Ile403=) c.1161C= (p.Ile387=) n.592C= c.201C= (p.Ile67=) c.72C= (p.Ile24=) |