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.44145491_44145502del | CA2695202972 | GCK | c.*1248_*1251+8del c.*370_*373+8del n.476_479+8del c.284_287+8del c.1253_1256+8del c.1250_1253+8del c.1313_1316+8del n.262_265+8del c.302_305+8del c.1247_1250+8del c.1199_1202+8del n.630_633+8del c.239_242+8del c.110_113+8del | |
7 | g.44145489_44145512del | CA2695202973 | GCK | c.*1236_*1251+8del c.*358_*373+8del n.464_479+8del c.272_287+8del c.1241_1256+8del c.1238_1253+8del c.1301_1316+8del n.250_265+8del c.290_305+8del c.1235_1250+8del c.1187_1202+8del n.618_633+8del c.227_242+8del c.98_113+8del | |
7 | g.44145502del | CA2573142178 | GCK | c.*1249del (n.*1249del) c.*371del (n.*371del) n.477del c.285del (p.Ser96AlafsTer13) c.1254del (p.Ser419AlafsTer13) c.1251del (p.Ser418AlafsTer13) c.1314del (p.Ser439AlafsTer13) n.263del c.303del (p.Ser102AlafsTer13) c.1248del (p.Ser417AlafsTer13) c.1200del (p.Ser401AlafsTer13) n.631del c.240del (p.Ser81AlafsTer13) c.111del (p.Ser38AlafsTer13) | ClinVar dbSNP gnomAD v4 |
7 | g.44145502G>A | CA4239410 | GCK | c.*1246C>T (n.*1246C>T) c.*368C>T (n.*368C>T) n.474C>T c.282C>T (p.His94=) c.1251C>T (p.His417=) c.1248C>T (p.His416=) c.1311C>T (p.His437=) n.260C>T c.300C>T (p.His100=) c.1245C>T (p.His415=) c.1197C>T (p.His399=) n.628C>T c.237C>T (p.His79=) c.108C>T (p.His36=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.44145502G>C | CA367398211 | GCK | c.*1246C>G (n.*1246C>G) c.*368C>G (n.*368C>G) n.474C>G c.282C>G (p.His94Gln) c.1251C>G (p.His417Gln) c.1248C>G (p.His416Gln) c.1311C>G (p.His437Gln) n.260C>G c.300C>G (p.His100Gln) c.1245C>G (p.His415Gln) c.1197C>G (p.His399Gln) n.628C>G c.237C>G (p.His79Gln) c.108C>G (p.His36Gln) | |
7 | g.44145502G= | CA1703612845 | GCK | c.*1246C= (n.*1246C=) c.*368C= (n.*368C=) n.474C= c.282C= (p.His94=) c.1251C= (p.His417=) c.1248C= (p.His416=) c.1311C= (p.His437=) n.260C= c.300C= (p.His100=) c.1245C= (p.His415=) c.1197C= (p.His399=) n.628C= c.237C= (p.His79=) c.108C= (p.His36=) | |
7 | g.44145502G>T | CA367398213 | GCK | c.*1246C>A (n.*1246C>A) c.*368C>A (n.*368C>A) n.474C>A c.282C>A (p.His94Gln) c.1251C>A (p.His417Gln) c.1248C>A (p.His416Gln) c.1311C>A (p.His437Gln) n.260C>A c.300C>A (p.His100Gln) c.1245C>A (p.His415Gln) c.1197C>A (p.His399Gln) n.628C>A c.237C>A (p.His79Gln) c.108C>A (p.His36Gln) | gnomAD v4 |
7 | g.44145503del | CA645372118 | GCK | c.*1245del (n.*1245del) c.*367del (n.*367del) n.473del c.281del (p.His94ProfsTer15) c.1250del (p.His417ProfsTer15) c.1247del (p.His416ProfsTer15) c.1310del (p.His437ProfsTer15) n.259del c.299del (p.His100ProfsTer15) c.1244del (p.His415ProfsTer15) c.1196del (p.His399ProfsTer15) n.627del c.236del (p.His79ProfsTer15) c.107del (p.His36ProfsTer15) | |
7 | g.44145503T>A | CA367398215 | GCK | c.*1245A>T (n.*1245A>T) c.*367A>T (n.*367A>T) n.473A>T c.281A>T (p.His94Leu) c.1250A>T (p.His417Leu) c.1247A>T (p.His416Leu) c.1310A>T (p.His437Leu) n.259A>T c.299A>T (p.His100Leu) c.1244A>T (p.His415Leu) c.1196A>T (p.His399Leu) n.627A>T c.236A>T (p.His79Leu) c.107A>T (p.His36Leu) | |
7 | g.44145503T>C | CA367398216 | GCK | c.*1245A>G (n.*1245A>G) c.*367A>G (n.*367A>G) n.473A>G c.281A>G (p.His94Arg) c.1250A>G (p.His417Arg) c.1247A>G (p.His416Arg) c.1310A>G (p.His437Arg) n.259A>G c.299A>G (p.His100Arg) c.1244A>G (p.His415Arg) c.1196A>G (p.His399Arg) n.627A>G c.236A>G (p.His79Arg) c.107A>G (p.His36Arg) | ClinVar gnomAD v4 |
7 | g.44145503T>G | CA367398218 | GCK | c.*1245A>C (n.*1245A>C) c.*367A>C (n.*367A>C) n.473A>C c.281A>C (p.His94Pro) c.1250A>C (p.His417Pro) c.1247A>C (p.His416Pro) c.1310A>C (p.His437Pro) n.259A>C c.299A>C (p.His100Pro) c.1244A>C (p.His415Pro) c.1196A>C (p.His399Pro) n.627A>C c.236A>C (p.His79Pro) c.107A>C (p.His36Pro) | ClinVar dbSNP |
7 | g.44145503T= | CA1703612846 | GCK | c.*1245A= (n.*1245A=) c.*367A= (n.*367A=) n.473A= c.281A= (p.His94=) c.1250A= (p.His417=) c.1247A= (p.His416=) c.1310A= (p.His437=) n.259A= c.299A= (p.His100=) c.1244A= (p.His415=) c.1196A= (p.His399=) n.627A= c.236A= (p.His79=) c.107A= (p.His36=) | |
7 | g.44145504G>A | CA367398219 | GCK | c.*1244C>T (n.*1244C>T) c.*366C>T (n.*366C>T) n.472C>T c.280C>T (p.His94Tyr) c.1249C>T (p.His417Tyr) c.1246C>T (p.His416Tyr) c.1309C>T (p.His437Tyr) n.258C>T c.298C>T (p.His100Tyr) c.1243C>T (p.His415Tyr) c.1195C>T (p.His399Tyr) n.626C>T c.235C>T (p.His79Tyr) c.106C>T (p.His36Tyr) | gnomAD v4 |
7 | g.44145504G>C | CA367398220 | GCK | c.*1244C>G (n.*1244C>G) c.*366C>G (n.*366C>G) n.472C>G c.280C>G (p.His94Asp) c.1249C>G (p.His417Asp) c.1246C>G (p.His416Asp) c.1309C>G (p.His437Asp) n.258C>G c.298C>G (p.His100Asp) c.1243C>G (p.His415Asp) c.1195C>G (p.His399Asp) n.626C>G c.235C>G (p.His79Asp) c.106C>G (p.His36Asp) | |
7 | g.44145504G>T | CA367398222 | GCK | c.*1244C>A (n.*1244C>A) c.*366C>A (n.*366C>A) n.472C>A c.280C>A (p.His94Asn) c.1249C>A (p.His417Asn) c.1246C>A (p.His416Asn) c.1309C>A (p.His437Asn) n.258C>A c.298C>A (p.His100Asn) c.1243C>A (p.His415Asn) c.1195C>A (p.His399Asn) n.626C>A c.235C>A (p.His79Asn) c.106C>A (p.His36Asn) | gnomAD v4 |
7 | g.44145505del | CA2573052876 | GCK | c.*1243del (n.*1243del) c.*365del (n.*365del) n.471del c.279del (p.His94ThrfsTer15) c.1248del (p.His417ThrfsTer15) c.1245del (p.His416ThrfsTer15) c.1308del (p.His437ThrfsTer15) n.257del c.297del (p.His100ThrfsTer15) c.1242del (p.His415ThrfsTer15) c.1194del (p.His399ThrfsTer15) n.625del c.234del (p.His79ThrfsTer15) c.105del (p.His36ThrfsTer15) | ClinVar dbSNP |
7 | g.44145505C>A | CA454863088 | GCK | c.*1243G>T (n.*1243G>T) c.*365G>T (n.*365G>T) n.471G>T c.279G>T (p.Leu93=) c.1248G>T (p.Leu416=) c.1245G>T (p.Leu415=) c.1308G>T (p.Leu436=) n.257G>T c.297G>T (p.Leu99=) c.1242G>T (p.Leu414=) c.1194G>T (p.Leu398=) n.625G>T c.234G>T (p.Leu78=) c.105G>T (p.Leu35=) | gnomAD v4 |
7 | g.44145505C= | CA1703612847 | GCK | c.*1243G= (n.*1243G=) c.*365G= (n.*365G=) n.471G= c.279G= (p.Leu93=) c.1248G= (p.Leu416=) c.1245G= (p.Leu415=) c.1308G= (p.Leu436=) n.257G= c.297G= (p.Leu99=) c.1242G= (p.Leu414=) c.1194G= (p.Leu398=) n.625G= c.234G= (p.Leu78=) c.105G= (p.Leu35=) | |
7 | g.44145505C>G | CA454863091 | GCK | c.*1243G>C (n.*1243G>C) c.*365G>C (n.*365G>C) n.471G>C c.279G>C (p.Leu93=) c.1248G>C (p.Leu416=) c.1245G>C (p.Leu415=) c.1308G>C (p.Leu436=) n.257G>C c.297G>C (p.Leu99=) c.1242G>C (p.Leu414=) c.1194G>C (p.Leu398=) n.625G>C c.234G>C (p.Leu78=) c.105G>C (p.Leu35=) | |
7 | g.44145505C>T | CA454863089 | GCK | c.*1243G>A (n.*1243G>A) c.*365G>A (n.*365G>A) n.471G>A c.279G>A (p.Leu93=) c.1248G>A (p.Leu416=) c.1245G>A (p.Leu415=) c.1308G>A (p.Leu436=) n.257G>A c.297G>A (p.Leu99=) c.1242G>A (p.Leu414=) c.1194G>A (p.Leu398=) n.625G>A c.234G>A (p.Leu78=) c.105G>A (p.Leu35=) | dbSNP gnomAD v4 |
7 | g.44145506A= | CA1703612848 | GCK | c.*1242T= (n.*1242T=) c.*364T= (n.*364T=) n.470T= c.278T= (p.Leu93=) c.1247T= (p.Leu416=) c.1244T= (p.Leu415=) c.1307T= (p.Leu436=) n.256T= c.296T= (p.Leu99=) c.1241T= (p.Leu414=) c.1193T= (p.Leu398=) n.624T= c.233T= (p.Leu78=) c.104T= (p.Leu35=) | |
7 | g.44145506A>C | CA367398225 | GCK | c.*1242T>G (n.*1242T>G) c.*364T>G (n.*364T>G) n.470T>G c.278T>G (p.Leu93Arg) c.1247T>G (p.Leu416Arg) c.1244T>G (p.Leu415Arg) c.1307T>G (p.Leu436Arg) n.256T>G c.296T>G (p.Leu99Arg) c.1241T>G (p.Leu414Arg) c.1193T>G (p.Leu398Arg) n.624T>G c.233T>G (p.Leu78Arg) c.104T>G (p.Leu35Arg) | |
7 | g.44145506A>G | CA157913330 | GCK | c.*1242T>C (n.*1242T>C) c.*364T>C (n.*364T>C) n.470T>C c.278T>C (p.Leu93Pro) c.1247T>C (p.Leu416Pro) c.1244T>C (p.Leu415Pro) c.1307T>C (p.Leu436Pro) n.256T>C c.296T>C (p.Leu99Pro) c.1241T>C (p.Leu414Pro) c.1193T>C (p.Leu398Pro) n.624T>C c.233T>C (p.Leu78Pro) c.104T>C (p.Leu35Pro) | dbSNP |
7 | g.44145506A>T | CA367398229 | GCK | c.*1242T>A (n.*1242T>A) c.*364T>A (n.*364T>A) n.470T>A c.278T>A (p.Leu93Gln) c.1247T>A (p.Leu416Gln) c.1244T>A (p.Leu415Gln) c.1307T>A (p.Leu436Gln) n.256T>A c.296T>A (p.Leu99Gln) c.1241T>A (p.Leu414Gln) c.1193T>A (p.Leu398Gln) n.624T>A c.233T>A (p.Leu78Gln) c.104T>A (p.Leu35Gln) | |
7 | g.44145509_44145521del | CA2695202976 | GCK | c.*1230_*1242del (n.*1230_*1242del) c.*352_*364del (n.*352_*364del) n.458_470del c.266_278del (p.Ser89CysfsTer16) c.1235_1247del (p.Ser412CysfsTer16) c.1232_1244del (p.Ser411CysfsTer16) c.1295_1307del (p.Ser432CysfsTer16) n.244_256del c.284_296del (p.Ser95CysfsTer16) c.1229_1241del (p.Ser410CysfsTer16) c.1181_1193del (p.Ser394CysfsTer16) n.612_624del c.221_233del (p.Ser74CysfsTer16) c.92_104del (p.Ser31CysfsTer16) | |
7 | g.44145507G>A | CA454863097 | GCK | c.*1241C>T (n.*1241C>T) c.*363C>T (n.*363C>T) n.469C>T c.277C>T (p.Leu93=) c.1246C>T (p.Leu416=) c.1243C>T (p.Leu415=) c.1306C>T (p.Leu436=) n.255C>T c.295C>T (p.Leu99=) c.1240C>T (p.Leu414=) c.1192C>T (p.Leu398=) n.623C>T c.232C>T (p.Leu78=) c.103C>T (p.Leu35=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145507G>C | CA367398232 | GCK | c.*1241C>G (n.*1241C>G) c.*363C>G (n.*363C>G) n.469C>G c.277C>G (p.Leu93Val) c.1246C>G (p.Leu416Val) c.1243C>G (p.Leu415Val) c.1306C>G (p.Leu436Val) n.255C>G c.295C>G (p.Leu99Val) c.1240C>G (p.Leu414Val) c.1192C>G (p.Leu398Val) n.623C>G c.232C>G (p.Leu78Val) c.103C>G (p.Leu35Val) | |
7 | g.44145507G= | CA1703612849 | GCK | c.*1241C= (n.*1241C=) c.*363C= (n.*363C=) n.469C= c.277C= (p.Leu93=) c.1246C= (p.Leu416=) c.1243C= (p.Leu415=) c.1306C= (p.Leu436=) n.255C= c.295C= (p.Leu99=) c.1240C= (p.Leu414=) c.1192C= (p.Leu398=) n.623C= c.232C= (p.Leu78=) c.103C= (p.Leu35=) | |
7 | g.44145507G>T | CA367398233 | GCK | c.*1241C>A (n.*1241C>A) c.*363C>A (n.*363C>A) n.469C>A c.277C>A (p.Leu93Met) c.1246C>A (p.Leu416Met) c.1243C>A (p.Leu415Met) c.1306C>A (p.Leu436Met) n.255C>A c.295C>A (p.Leu99Met) c.1240C>A (p.Leu414Met) c.1192C>A (p.Leu398Met) n.623C>A c.232C>A (p.Leu78Met) c.103C>A (p.Leu35Met) | gnomAD v4 |
7 | g.44145508C>A | CA367398236 | GCK | c.*1240G>T (n.*1240G>T) c.*362G>T (n.*362G>T) n.468G>T c.276G>T (p.Lys92Asn) c.1245G>T (p.Lys415Asn) c.1242G>T (p.Lys414Asn) c.1305G>T (p.Lys435Asn) n.254G>T c.294G>T (p.Lys98Asn) c.1239G>T (p.Lys413Asn) c.1191G>T (p.Lys397Asn) n.622G>T c.231G>T (p.Lys77Asn) c.102G>T (p.Lys34Asn) | ClinVar gnomAD v4 |
7 | g.44145508C>G | CA367398238 | GCK | c.*1240G>C (n.*1240G>C) c.*362G>C (n.*362G>C) n.468G>C c.276G>C (p.Lys92Asn) c.1245G>C (p.Lys415Asn) c.1242G>C (p.Lys414Asn) c.1305G>C (p.Lys435Asn) n.254G>C c.294G>C (p.Lys98Asn) c.1239G>C (p.Lys413Asn) c.1191G>C (p.Lys397Asn) n.622G>C c.231G>C (p.Lys77Asn) c.102G>C (p.Lys34Asn) | |
7 | g.44145508C>T | CA454863099 | GCK | c.*1240G>A (n.*1240G>A) c.*362G>A (n.*362G>A) n.468G>A c.276G>A (p.Lys92=) c.1245G>A (p.Lys415=) c.1242G>A (p.Lys414=) c.1305G>A (p.Lys435=) n.254G>A c.294G>A (p.Lys98=) c.1239G>A (p.Lys413=) c.1191G>A (p.Lys397=) n.622G>A c.231G>A (p.Lys77=) c.102G>A (p.Lys34=) | |
7 | g.44145509T>A | CA367398241 | GCK | c.*1239A>T (n.*1239A>T) c.*361A>T (n.*361A>T) n.467A>T c.275A>T (p.Lys92Met) c.1244A>T (p.Lys415Met) c.1241A>T (p.Lys414Met) c.1304A>T (p.Lys435Met) n.253A>T c.293A>T (p.Lys98Met) c.1238A>T (p.Lys413Met) c.1190A>T (p.Lys397Met) n.621A>T c.230A>T (p.Lys77Met) c.101A>T (p.Lys34Met) | gnomAD v4 |
7 | g.44145509T>C | CA367398244 | GCK | c.*1239A>G (n.*1239A>G) c.*361A>G (n.*361A>G) n.467A>G c.275A>G (p.Lys92Arg) c.1244A>G (p.Lys415Arg) c.1241A>G (p.Lys414Arg) c.1304A>G (p.Lys435Arg) n.253A>G c.293A>G (p.Lys98Arg) c.1238A>G (p.Lys413Arg) c.1190A>G (p.Lys397Arg) n.621A>G c.230A>G (p.Lys77Arg) c.101A>G (p.Lys34Arg) | gnomAD v4 |
7 | g.44145509T>G | CA367398245 | GCK | c.*1239A>C (n.*1239A>C) c.*361A>C (n.*361A>C) n.467A>C c.275A>C (p.Lys92Thr) c.1244A>C (p.Lys415Thr) c.1241A>C (p.Lys414Thr) c.1304A>C (p.Lys435Thr) n.253A>C c.293A>C (p.Lys98Thr) c.1238A>C (p.Lys413Thr) c.1190A>C (p.Lys397Thr) n.621A>C c.230A>C (p.Lys77Thr) c.101A>C (p.Lys34Thr) | |
7 | g.44145510dup | CA2695202977 | GCK | c.*1239dup (n.*1239dup) c.*361dup (n.*361dup) n.467dup c.275dup (p.Leu93AlafsTer?) c.1244dup (p.Leu416AlafsTer?) c.1241dup (p.Leu415AlafsTer?) c.1304dup (p.Leu436AlafsTer?) n.253dup c.293dup (p.Leu99AlafsTer?) c.1238dup (p.Leu414AlafsTer?) c.1190dup (p.Leu398AlafsTer?) n.621dup c.230dup (p.Leu78AlafsTer?) c.101dup (p.Leu35AlafsTer?) | |
7 | g.44145510T>A | CA367398252 | GCK | c.*1238A>T (n.*1238A>T) c.*360A>T (n.*360A>T) n.466A>T c.274A>T (p.Lys92Ter) c.1243A>T (p.Lys415Ter) c.1240A>T (p.Lys414Ter) c.1303A>T (p.Lys435Ter) n.252A>T c.292A>T (p.Lys98Ter) c.1237A>T (p.Lys413Ter) c.1189A>T (p.Lys397Ter) n.620A>T c.229A>T (p.Lys77Ter) c.100A>T (p.Lys34Ter) | ClinVar |
7 | g.44145510T>C | CA213739 | GCK | c.*1238A>G (n.*1238A>G) c.*360A>G (n.*360A>G) n.466A>G c.274A>G (p.Lys92Glu) c.1243A>G (p.Lys415Glu) c.1240A>G (p.Lys414Glu) c.1303A>G (p.Lys435Glu) n.252A>G c.292A>G (p.Lys98Glu) c.1237A>G (p.Lys413Glu) c.1189A>G (p.Lys397Glu) n.620A>G c.229A>G (p.Lys77Glu) c.100A>G (p.Lys34Glu) | ClinVar dbSNP ExAC gnomAD v4 |
7 | g.44145510T>G | CA367398256 | GCK | c.*1238A>C (n.*1238A>C) c.*360A>C (n.*360A>C) n.466A>C c.274A>C (p.Lys92Gln) c.1243A>C (p.Lys415Gln) c.1240A>C (p.Lys414Gln) c.1303A>C (p.Lys435Gln) n.252A>C c.292A>C (p.Lys98Gln) c.1237A>C (p.Lys413Gln) c.1189A>C (p.Lys397Gln) n.620A>C c.229A>C (p.Lys77Gln) c.100A>C (p.Lys34Gln) | |
7 | g.44145510T= | CA1703612850 | GCK | c.*1238A= (n.*1238A=) c.*360A= (n.*360A=) n.466A= c.274A= (p.Lys92=) c.1243A= (p.Lys415=) c.1240A= (p.Lys414=) c.1303A= (p.Lys435=) n.252A= c.292A= (p.Lys98=) c.1237A= (p.Lys413=) c.1189A= (p.Lys397=) n.620A= c.229A= (p.Lys77=) c.100A= (p.Lys34=) | |
7 | g.44145511G>A | CA454863101 | GCK | c.*1237C>T (n.*1237C>T) c.*359C>T (n.*359C>T) n.465C>T c.273C>T (p.Tyr91=) c.1242C>T (p.Tyr414=) c.1239C>T (p.Tyr413=) c.1302C>T (p.Tyr434=) n.251C>T c.291C>T (p.Tyr97=) c.1236C>T (p.Tyr412=) c.1188C>T (p.Tyr396=) n.619C>T c.228C>T (p.Tyr76=) c.99C>T (p.Tyr33=) | |
7 | g.44145511G>C | CA367398260 | GCK | c.*1237C>G (n.*1237C>G) c.*359C>G (n.*359C>G) n.465C>G c.273C>G (p.Tyr91Ter) c.1242C>G (p.Tyr414Ter) c.1239C>G (p.Tyr413Ter) c.1302C>G (p.Tyr434Ter) n.251C>G c.291C>G (p.Tyr97Ter) c.1236C>G (p.Tyr412Ter) c.1188C>G (p.Tyr396Ter) n.619C>G c.228C>G (p.Tyr76Ter) c.99C>G (p.Tyr33Ter) | ClinVar |
7 | g.44145511G>T | CA367398263 | GCK | c.*1237C>A (n.*1237C>A) c.*359C>A (n.*359C>A) n.465C>A c.273C>A (p.Tyr91Ter) c.1242C>A (p.Tyr414Ter) c.1239C>A (p.Tyr413Ter) c.1302C>A (p.Tyr434Ter) n.251C>A c.291C>A (p.Tyr97Ter) c.1236C>A (p.Tyr412Ter) c.1188C>A (p.Tyr396Ter) n.619C>A c.228C>A (p.Tyr76Ter) c.99C>A (p.Tyr33Ter) | |
7 | g.44145512T>A | CA367398264 | GCK | c.*1236A>T (n.*1236A>T) c.*358A>T (n.*358A>T) n.464A>T c.272A>T (p.Tyr91Phe) c.1241A>T (p.Tyr414Phe) c.1238A>T (p.Tyr413Phe) c.1301A>T (p.Tyr434Phe) n.250A>T c.290A>T (p.Tyr97Phe) c.1235A>T (p.Tyr412Phe) c.1187A>T (p.Tyr396Phe) n.618A>T c.227A>T (p.Tyr76Phe) c.98A>T (p.Tyr33Phe) | |
7 | g.44145512T>C | CA367398265 | GCK | c.*1236A>G (n.*1236A>G) c.*358A>G (n.*358A>G) n.464A>G c.272A>G (p.Tyr91Cys) c.1241A>G (p.Tyr414Cys) c.1238A>G (p.Tyr413Cys) c.1301A>G (p.Tyr434Cys) n.250A>G c.290A>G (p.Tyr97Cys) c.1235A>G (p.Tyr412Cys) c.1187A>G (p.Tyr396Cys) n.618A>G c.227A>G (p.Tyr76Cys) c.98A>G (p.Tyr33Cys) | gnomAD v4 |
7 | g.44145512T>G | CA367398269 | GCK | c.*1236A>C (n.*1236A>C) c.*358A>C (n.*358A>C) n.464A>C c.272A>C (p.Tyr91Ser) c.1241A>C (p.Tyr414Ser) c.1238A>C (p.Tyr413Ser) c.1301A>C (p.Tyr434Ser) n.250A>C c.290A>C (p.Tyr97Ser) c.1235A>C (p.Tyr412Ser) c.1187A>C (p.Tyr396Ser) n.618A>C c.227A>C (p.Tyr76Ser) c.98A>C (p.Tyr33Ser) | |
7 | g.44145513A>C | CA367398272 | GCK | c.*1235T>G (n.*1235T>G) c.*357T>G (n.*357T>G) n.463T>G c.271T>G (p.Tyr91Asp) c.1240T>G (p.Tyr414Asp) c.1237T>G (p.Tyr413Asp) c.1300T>G (p.Tyr434Asp) n.249T>G c.289T>G (p.Tyr97Asp) c.1234T>G (p.Tyr412Asp) c.1186T>G (p.Tyr396Asp) n.617T>G c.226T>G (p.Tyr76Asp) c.97T>G (p.Tyr33Asp) | |
7 | g.44145513A>G | CA367398277 | GCK | c.*1235T>C (n.*1235T>C) c.*357T>C (n.*357T>C) n.463T>C c.271T>C (p.Tyr91His) c.1240T>C (p.Tyr414His) c.1237T>C (p.Tyr413His) c.1300T>C (p.Tyr434His) n.249T>C c.289T>C (p.Tyr97His) c.1234T>C (p.Tyr412His) c.1186T>C (p.Tyr396His) n.617T>C c.226T>C (p.Tyr76His) c.97T>C (p.Tyr33His) | gnomAD v4 |
7 | g.44145513A>T | CA367398273 | GCK | c.*1235T>A (n.*1235T>A) c.*357T>A (n.*357T>A) n.463T>A c.271T>A (p.Tyr91Asn) c.1240T>A (p.Tyr414Asn) c.1237T>A (p.Tyr413Asn) c.1300T>A (p.Tyr434Asn) n.249T>A c.289T>A (p.Tyr97Asn) c.1234T>A (p.Tyr412Asn) c.1186T>A (p.Tyr396Asn) n.617T>A c.226T>A (p.Tyr76Asn) c.97T>A (p.Tyr33Asn) | |
7 | g.44145514C>A | CA454863107 | GCK | c.*1234G>T (n.*1234G>T) c.*356G>T (n.*356G>T) n.462G>T c.270G>T (p.Val90=) c.1239G>T (p.Val413=) c.1236G>T (p.Val412=) c.1299G>T (p.Val433=) n.248G>T c.288G>T (p.Val96=) c.1233G>T (p.Val411=) c.1185G>T (p.Val395=) n.616G>T c.225G>T (p.Val75=) c.96G>T (p.Val32=) | gnomAD v4 |
7 | g.44145514C>G | CA454863109 | GCK | c.*1234G>C (n.*1234G>C) c.*356G>C (n.*356G>C) n.462G>C c.270G>C (p.Val90=) c.1239G>C (p.Val413=) c.1236G>C (p.Val412=) c.1299G>C (p.Val433=) n.248G>C c.288G>C (p.Val96=) c.1233G>C (p.Val411=) c.1185G>C (p.Val395=) n.616G>C c.225G>C (p.Val75=) c.96G>C (p.Val32=) | |
7 | g.44145514C>T | CA454863111 | GCK | c.*1234G>A (n.*1234G>A) c.*356G>A (n.*356G>A) n.462G>A c.270G>A (p.Val90=) c.1239G>A (p.Val413=) c.1236G>A (p.Val412=) c.1299G>A (p.Val433=) n.248G>A c.288G>A (p.Val96=) c.1233G>A (p.Val411=) c.1185G>A (p.Val395=) n.616G>A c.225G>A (p.Val75=) c.96G>A (p.Val32=) | gnomAD v4 |
7 | g.44145515A= | CA1703612851 | GCK | c.*1233T= (n.*1233T=) c.*355T= (n.*355T=) n.461T= c.269T= (p.Val90=) c.1238T= (p.Val413=) c.1235T= (p.Val412=) c.1298T= (p.Val433=) n.247T= c.287T= (p.Val96=) c.1232T= (p.Val411=) c.1184T= (p.Val395=) n.615T= c.224T= (p.Val75=) c.95T= (p.Val32=) | |
7 | g.44145515A>C | CA367398280 | GCK | c.*1233T>G (n.*1233T>G) c.*355T>G (n.*355T>G) n.461T>G c.269T>G (p.Val90Gly) c.1238T>G (p.Val413Gly) c.1235T>G (p.Val412Gly) c.1298T>G (p.Val433Gly) n.247T>G c.287T>G (p.Val96Gly) c.1232T>G (p.Val411Gly) c.1184T>G (p.Val395Gly) n.615T>G c.224T>G (p.Val75Gly) c.95T>G (p.Val32Gly) | ClinVar dbSNP gnomAD v4 |
7 | g.44145515A>G | CA367398281 | GCK | c.*1233T>C (n.*1233T>C) c.*355T>C (n.*355T>C) n.461T>C c.269T>C (p.Val90Ala) c.1238T>C (p.Val413Ala) c.1235T>C (p.Val412Ala) c.1298T>C (p.Val433Ala) n.247T>C c.287T>C (p.Val96Ala) c.1232T>C (p.Val411Ala) c.1184T>C (p.Val395Ala) n.615T>C c.224T>C (p.Val75Ala) c.95T>C (p.Val32Ala) | ClinVar |
7 | g.44145515A>T | CA367398282 | GCK | c.*1233T>A (n.*1233T>A) c.*355T>A (n.*355T>A) n.461T>A c.269T>A (p.Val90Glu) c.1238T>A (p.Val413Glu) c.1235T>A (p.Val412Glu) c.1298T>A (p.Val433Glu) n.247T>A c.287T>A (p.Val96Glu) c.1232T>A (p.Val411Glu) c.1184T>A (p.Val395Glu) n.615T>A c.224T>A (p.Val75Glu) c.95T>A (p.Val32Glu) | ClinVar |
7 | g.44145516C>A | CA367398284 | GCK | c.*1232G>T (n.*1232G>T) c.*354G>T (n.*354G>T) n.460G>T c.268G>T (p.Val90Leu) c.1237G>T (p.Val413Leu) c.1234G>T (p.Val412Leu) c.1297G>T (p.Val433Leu) n.246G>T c.286G>T (p.Val96Leu) c.1231G>T (p.Val411Leu) c.1183G>T (p.Val395Leu) n.614G>T c.223G>T (p.Val75Leu) c.94G>T (p.Val32Leu) | |
7 | g.44145516C>G | CA367398286 | GCK | c.*1232G>C (n.*1232G>C) c.*354G>C (n.*354G>C) n.460G>C c.268G>C (p.Val90Leu) c.1237G>C (p.Val413Leu) c.1234G>C (p.Val412Leu) c.1297G>C (p.Val433Leu) n.246G>C c.286G>C (p.Val96Leu) c.1231G>C (p.Val411Leu) c.1183G>C (p.Val395Leu) n.614G>C c.223G>C (p.Val75Leu) c.94G>C (p.Val32Leu) | ClinVar |
7 | g.44145516C>T | CA367398289 | GCK | c.*1232G>A (n.*1232G>A) c.*354G>A (n.*354G>A) n.460G>A c.268G>A (p.Val90Met) c.1237G>A (p.Val413Met) c.1234G>A (p.Val412Met) c.1297G>A (p.Val433Met) n.246G>A c.286G>A (p.Val96Met) c.1231G>A (p.Val411Met) c.1183G>A (p.Val395Met) n.614G>A c.223G>A (p.Val75Met) c.94G>A (p.Val32Met) | ClinVar gnomAD v4 |
7 | g.44145517G>A | CA157913332 | GCK | c.*1231C>T (n.*1231C>T) c.*353C>T (n.*353C>T) n.459C>T c.267C>T (p.Ser89=) c.1236C>T (p.Ser412=) c.1233C>T (p.Ser411=) c.1296C>T (p.Ser432=) n.245C>T c.285C>T (p.Ser95=) c.1230C>T (p.Ser410=) c.1182C>T (p.Ser394=) n.613C>T c.222C>T (p.Ser74=) c.93C>T (p.Ser31=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44145517G>C | CA4239411 | GCK | c.*1231C>G (n.*1231C>G) c.*353C>G (n.*353C>G) n.459C>G c.267C>G (p.Ser89=) c.1236C>G (p.Ser412=) c.1233C>G (p.Ser411=) c.1296C>G (p.Ser432=) n.245C>G c.285C>G (p.Ser95=) c.1230C>G (p.Ser410=) c.1182C>G (p.Ser394=) n.613C>G c.222C>G (p.Ser74=) c.93C>G (p.Ser31=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44145517G= | CA1703612852 | GCK | c.*1231C= (n.*1231C=) c.*353C= (n.*353C=) n.459C= c.267C= (p.Ser89=) c.1236C= (p.Ser412=) c.1233C= (p.Ser411=) c.1296C= (p.Ser432=) n.245C= c.285C= (p.Ser95=) c.1230C= (p.Ser410=) c.1182C= (p.Ser394=) n.613C= c.222C= (p.Ser74=) c.93C= (p.Ser31=) | |
7 | g.44145517G>T | CA454863119 | GCK | c.*1231C>A (n.*1231C>A) c.*353C>A (n.*353C>A) n.459C>A c.267C>A (p.Ser89=) c.1236C>A (p.Ser412=) c.1233C>A (p.Ser411=) c.1296C>A (p.Ser432=) n.245C>A c.285C>A (p.Ser95=) c.1230C>A (p.Ser410=) c.1182C>A (p.Ser394=) n.613C>A c.222C>A (p.Ser74=) c.93C>A (p.Ser31=) | dbSNP gnomAD v4 |
7 | g.44145517delinsTGGGGT | CA2695202979 | GCK | c.*1231delinsACCCCA (n.*1231delinsACCCCA) c.*353delinsACCCCA (n.*353delinsACCCCA) n.459delinsACCCCA c.267delinsACCCCA (p.Val90ProfsTer21) c.1236delinsACCCCA (p.Val413ProfsTer21) c.1233delinsACCCCA (p.Val412ProfsTer21) c.1296delinsACCCCA (p.Val433ProfsTer21) n.245delinsACCCCA c.285delinsACCCCA (p.Val96ProfsTer21) c.1230delinsACCCCA (p.Val411ProfsTer21) c.1182delinsACCCCA (p.Val395ProfsTer21) n.613delinsACCCCA c.222delinsACCCCA (p.Val75ProfsTer21) c.93delinsACCCCA (p.Val32ProfsTer21) | |
7 | g.44145518G>A | CA367398296 | GCK | c.*1230C>T (n.*1230C>T) c.*352C>T (n.*352C>T) n.458C>T c.266C>T (p.Ser89Phe) c.1235C>T (p.Ser412Phe) c.1232C>T (p.Ser411Phe) c.1295C>T (p.Ser432Phe) n.244C>T c.284C>T (p.Ser95Phe) c.1229C>T (p.Ser410Phe) c.1181C>T (p.Ser394Phe) n.612C>T c.221C>T (p.Ser74Phe) c.92C>T (p.Ser31Phe) | ClinVar |
7 | g.44145518G>C | CA367398298 | GCK | c.*1230C>G (n.*1230C>G) c.*352C>G (n.*352C>G) n.458C>G c.266C>G (p.Ser89Cys) c.1235C>G (p.Ser412Cys) c.1232C>G (p.Ser411Cys) c.1295C>G (p.Ser432Cys) n.244C>G c.284C>G (p.Ser95Cys) c.1229C>G (p.Ser410Cys) c.1181C>G (p.Ser394Cys) n.612C>G c.221C>G (p.Ser74Cys) c.92C>G (p.Ser31Cys) | |
7 | g.44145518G>T | CA367398301 | GCK | c.*1230C>A (n.*1230C>A) c.*352C>A (n.*352C>A) n.458C>A c.266C>A (p.Ser89Tyr) c.1235C>A (p.Ser412Tyr) c.1232C>A (p.Ser411Tyr) c.1295C>A (p.Ser432Tyr) n.244C>A c.284C>A (p.Ser95Tyr) c.1229C>A (p.Ser410Tyr) c.1181C>A (p.Ser394Tyr) n.612C>A c.221C>A (p.Ser74Tyr) c.92C>A (p.Ser31Tyr) | |
7 | g.44145519A= | CA1703612853 | GCK | c.*1229T= (n.*1229T=) c.*351T= (n.*351T=) n.457T= c.265T= (p.Ser89=) c.1234T= (p.Ser412=) c.1231T= (p.Ser411=) c.1294T= (p.Ser432=) n.243T= c.283T= (p.Ser95=) c.1228T= (p.Ser410=) c.1180T= (p.Ser394=) n.611T= c.220T= (p.Ser74=) c.91T= (p.Ser31=) | |
7 | g.44145519A>C | CA367398303 | GCK | c.*1229T>G (n.*1229T>G) c.*351T>G (n.*351T>G) n.457T>G c.265T>G (p.Ser89Ala) c.1234T>G (p.Ser412Ala) c.1231T>G (p.Ser411Ala) c.1294T>G (p.Ser432Ala) n.243T>G c.283T>G (p.Ser95Ala) c.1228T>G (p.Ser410Ala) c.1180T>G (p.Ser394Ala) n.611T>G c.220T>G (p.Ser74Ala) c.91T>G (p.Ser31Ala) | |
7 | g.44145519A>G | CA367398306 | GCK | c.*1229T>C (n.*1229T>C) c.*351T>C (n.*351T>C) n.457T>C c.265T>C (p.Ser89Pro) c.1234T>C (p.Ser412Pro) c.1231T>C (p.Ser411Pro) c.1294T>C (p.Ser432Pro) n.243T>C c.283T>C (p.Ser95Pro) c.1228T>C (p.Ser410Pro) c.1180T>C (p.Ser394Pro) n.611T>C c.220T>C (p.Ser74Pro) c.91T>C (p.Ser31Pro) | dbSNP |
7 | g.44145519A>T | CA367398307 | GCK | c.*1229T>A (n.*1229T>A) c.*351T>A (n.*351T>A) n.457T>A c.265T>A (p.Ser89Thr) c.1234T>A (p.Ser412Thr) c.1231T>A (p.Ser411Thr) c.1294T>A (p.Ser432Thr) n.243T>A c.283T>A (p.Ser95Thr) c.1228T>A (p.Ser410Thr) c.1180T>A (p.Ser394Thr) n.611T>A c.220T>A (p.Ser74Thr) c.91T>A (p.Ser31Thr) | |
7 | g.44145520G>A | CA454863126 | GCK | c.*1228C>T (n.*1228C>T) c.*350C>T (n.*350C>T) n.456C>T c.264C>T (p.Gly88=) c.1233C>T (p.Gly411=) c.1230C>T (p.Gly410=) c.1293C>T (p.Gly431=) n.242C>T c.282C>T (p.Gly94=) c.1227C>T (p.Gly409=) c.1179C>T (p.Gly393=) n.610C>T c.219C>T (p.Gly73=) c.90C>T (p.Gly30=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145520G>C | CA454863124 | GCK | c.*1228C>G (n.*1228C>G) c.*350C>G (n.*350C>G) n.456C>G c.264C>G (p.Gly88=) c.1233C>G (p.Gly411=) c.1230C>G (p.Gly410=) c.1293C>G (p.Gly431=) n.242C>G c.282C>G (p.Gly94=) c.1227C>G (p.Gly409=) c.1179C>G (p.Gly393=) n.610C>G c.219C>G (p.Gly73=) c.90C>G (p.Gly30=) | |
7 | g.44145520G= | CA1703612854 | GCK | c.*1228C= (n.*1228C=) c.*350C= (n.*350C=) n.456C= c.264C= (p.Gly88=) c.1233C= (p.Gly411=) c.1230C= (p.Gly410=) c.1293C= (p.Gly431=) n.242C= c.282C= (p.Gly94=) c.1227C= (p.Gly409=) c.1179C= (p.Gly393=) n.610C= c.219C= (p.Gly73=) c.90C= (p.Gly30=) | |
7 | g.44145520G>T | CA454863122 | GCK | c.*1228C>A (n.*1228C>A) c.*350C>A (n.*350C>A) n.456C>A c.264C>A (p.Gly88=) c.1233C>A (p.Gly411=) c.1230C>A (p.Gly410=) c.1293C>A (p.Gly431=) n.242C>A c.282C>A (p.Gly94=) c.1227C>A (p.Gly409=) c.1179C>A (p.Gly393=) n.610C>A c.219C>A (p.Gly73=) c.90C>A (p.Gly30=) | gnomAD v4 |
7 | g.44145521C>A | CA367398308 | GCK | c.*1227G>T (n.*1227G>T) c.*349G>T (n.*349G>T) n.455G>T c.263G>T (p.Gly88Val) c.1232G>T (p.Gly411Val) c.1229G>T (p.Gly410Val) c.1292G>T (p.Gly431Val) n.241G>T c.281G>T (p.Gly94Val) c.1226G>T (p.Gly409Val) c.1178G>T (p.Gly393Val) n.609G>T c.218G>T (p.Gly73Val) c.89G>T (p.Gly30Val) | ClinVar dbSNP gnomAD v4 |
7 | g.44145521C= | CA1703612855 | GCK | c.*1227G= (n.*1227G=) c.*349G= (n.*349G=) n.455G= c.263G= (p.Gly88=) c.1232G= (p.Gly411=) c.1229G= (p.Gly410=) c.1292G= (p.Gly431=) n.241G= c.281G= (p.Gly94=) c.1226G= (p.Gly409=) c.1178G= (p.Gly393=) n.609G= c.218G= (p.Gly73=) c.89G= (p.Gly30=) | |
7 | g.44145521C>G | CA367398310 | GCK | c.*1227G>C (n.*1227G>C) c.*349G>C (n.*349G>C) n.455G>C c.263G>C (p.Gly88Ala) c.1232G>C (p.Gly411Ala) c.1229G>C (p.Gly410Ala) c.1292G>C (p.Gly431Ala) n.241G>C c.281G>C (p.Gly94Ala) c.1226G>C (p.Gly409Ala) c.1178G>C (p.Gly393Ala) n.609G>C c.218G>C (p.Gly73Ala) c.89G>C (p.Gly30Ala) | |
7 | g.44145521C>T | CA367398309 | GCK | c.*1227G>A (n.*1227G>A) c.*349G>A (n.*349G>A) n.455G>A c.263G>A (p.Gly88Asp) c.1232G>A (p.Gly411Asp) c.1229G>A (p.Gly410Asp) c.1292G>A (p.Gly431Asp) n.241G>A c.281G>A (p.Gly94Asp) c.1226G>A (p.Gly409Asp) c.1178G>A (p.Gly393Asp) n.609G>A c.218G>A (p.Gly73Asp) c.89G>A (p.Gly30Asp) | ClinVar dbSNP gnomAD v4 |
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.44145522C>A | CA367398311 | GCK | c.*1226G>T (n.*1226G>T) c.*348G>T (n.*348G>T) n.454G>T c.262G>T (p.Gly88Cys) c.1231G>T (p.Gly411Cys) c.1228G>T (p.Gly410Cys) c.1291G>T (p.Gly431Cys) n.240G>T c.280G>T (p.Gly94Cys) c.1225G>T (p.Gly409Cys) c.1177G>T (p.Gly393Cys) n.608G>T c.217G>T (p.Gly73Cys) c.88G>T (p.Gly30Cys) | ClinVar gnomAD v4 |
7 | g.44145522C>G | CA367398313 | GCK | c.*1226G>C (n.*1226G>C) c.*348G>C (n.*348G>C) n.454G>C c.262G>C (p.Gly88Arg) c.1231G>C (p.Gly411Arg) c.1228G>C (p.Gly410Arg) c.1291G>C (p.Gly431Arg) n.240G>C c.280G>C (p.Gly94Arg) c.1225G>C (p.Gly409Arg) c.1177G>C (p.Gly393Arg) n.608G>C c.217G>C (p.Gly73Arg) c.88G>C (p.Gly30Arg) | ClinVar dbSNP gnomAD v4 |
7 | g.44145522C>T | CA367398315 | GCK | c.*1226G>A (n.*1226G>A) c.*348G>A (n.*348G>A) n.454G>A c.262G>A (p.Gly88Ser) c.1231G>A (p.Gly411Ser) c.1228G>A (p.Gly410Ser) c.1291G>A (p.Gly431Ser) n.240G>A c.280G>A (p.Gly94Ser) c.1225G>A (p.Gly409Ser) c.1177G>A (p.Gly393Ser) n.608G>A c.217G>A (p.Gly73Ser) c.88G>A (p.Gly30Ser) | ClinVar |
7 | g.44145523A>C | CA367398316 | GCK | c.*1225T>G (n.*1225T>G) c.*347T>G (n.*347T>G) n.453T>G c.261T>G (p.Asp87Glu) c.1230T>G (p.Asp410Glu) c.1227T>G (p.Asp409Glu) c.1290T>G (p.Asp430Glu) n.239T>G c.279T>G (p.Asp93Glu) c.1224T>G (p.Asp408Glu) c.1176T>G (p.Asp392Glu) n.607T>G c.216T>G (p.Asp72Glu) c.87T>G (p.Asp29Glu) | |
7 | g.44145523A>G | CA454863130 | GCK | c.*1225T>C (n.*1225T>C) c.*347T>C (n.*347T>C) n.453T>C c.261T>C (p.Asp87=) c.1230T>C (p.Asp410=) c.1227T>C (p.Asp409=) c.1290T>C (p.Asp430=) n.239T>C c.279T>C (p.Asp93=) c.1224T>C (p.Asp408=) c.1176T>C (p.Asp392=) n.607T>C c.216T>C (p.Asp72=) c.87T>C (p.Asp29=) | |
7 | g.44145523A>T | CA367398318 | GCK | c.*1225T>A (n.*1225T>A) c.*347T>A (n.*347T>A) n.453T>A c.261T>A (p.Asp87Glu) c.1230T>A (p.Asp410Glu) c.1227T>A (p.Asp409Glu) c.1290T>A (p.Asp430Glu) n.239T>A c.279T>A (p.Asp93Glu) c.1224T>A (p.Asp408Glu) c.1176T>A (p.Asp392Glu) n.607T>A c.216T>A (p.Asp72Glu) c.87T>A (p.Asp29Glu) | |
7 | g.44145524del | CA645372117 | GCK | c.*1224del (n.*1224del) c.*346del (n.*346del) n.452del c.260del (p.Asp87ValfsTer22) c.1229del (p.Asp410ValfsTer22) c.1226del (p.Asp409ValfsTer22) c.1289del (p.Asp430ValfsTer22) n.238del c.278del (p.Asp93ValfsTer22) c.1223del (p.Asp408ValfsTer22) c.1175del (p.Asp392ValfsTer22) n.606del c.215del (p.Asp72ValfsTer22) c.86del (p.Asp29ValfsTer22) | ClinVar |
7 | g.44145524T>A | CA367398320 | GCK | c.*1224A>T (n.*1224A>T) c.*346A>T (n.*346A>T) n.452A>T c.260A>T (p.Asp87Val) c.1229A>T (p.Asp410Val) c.1226A>T (p.Asp409Val) c.1289A>T (p.Asp430Val) n.238A>T c.278A>T (p.Asp93Val) c.1223A>T (p.Asp408Val) c.1175A>T (p.Asp392Val) n.606A>T c.215A>T (p.Asp72Val) c.86A>T (p.Asp29Val) | |
7 | g.44145524T>C | CA367398322 | GCK | c.*1224A>G (n.*1224A>G) c.*346A>G (n.*346A>G) n.452A>G c.260A>G (p.Asp87Gly) c.1229A>G (p.Asp410Gly) c.1226A>G (p.Asp409Gly) c.1289A>G (p.Asp430Gly) n.238A>G c.278A>G (p.Asp93Gly) c.1223A>G (p.Asp408Gly) c.1175A>G (p.Asp392Gly) n.606A>G c.215A>G (p.Asp72Gly) c.86A>G (p.Asp29Gly) | gnomAD v4 |
7 | g.44145524T>G | CA367398323 | GCK | c.*1224A>C (n.*1224A>C) c.*346A>C (n.*346A>C) n.452A>C c.260A>C (p.Asp87Ala) c.1229A>C (p.Asp410Ala) c.1226A>C (p.Asp409Ala) c.1289A>C (p.Asp430Ala) n.238A>C c.278A>C (p.Asp93Ala) c.1223A>C (p.Asp408Ala) c.1175A>C (p.Asp392Ala) n.606A>C c.215A>C (p.Asp72Ala) c.86A>C (p.Asp29Ala) | |
7 | g.44145525C>A | CA367398326 | GCK | c.*1223G>T (n.*1223G>T) c.*345G>T (n.*345G>T) n.451G>T c.259G>T (p.Asp87Tyr) c.1228G>T (p.Asp410Tyr) c.1225G>T (p.Asp409Tyr) c.1288G>T (p.Asp430Tyr) n.237G>T c.277G>T (p.Asp93Tyr) c.1222G>T (p.Asp408Tyr) c.1174G>T (p.Asp392Tyr) n.605G>T c.214G>T (p.Asp72Tyr) c.85G>T (p.Asp29Tyr) | gnomAD v4 |
7 | g.44145525C>G | CA367398329 | GCK | c.*1223G>C (n.*1223G>C) c.*345G>C (n.*345G>C) n.451G>C c.259G>C (p.Asp87His) c.1228G>C (p.Asp410His) c.1225G>C (p.Asp409His) c.1288G>C (p.Asp430His) n.237G>C c.277G>C (p.Asp93His) c.1222G>C (p.Asp408His) c.1174G>C (p.Asp392His) n.605G>C c.214G>C (p.Asp72His) c.85G>C (p.Asp29His) | |
7 | g.44145525C>T | CA367398331 | GCK | c.*1223G>A (n.*1223G>A) c.*345G>A (n.*345G>A) n.451G>A c.259G>A (p.Asp87Asn) c.1228G>A (p.Asp410Asn) c.1225G>A (p.Asp409Asn) c.1288G>A (p.Asp430Asn) n.237G>A c.277G>A (p.Asp93Asn) c.1222G>A (p.Asp408Asn) c.1174G>A (p.Asp392Asn) n.605G>A c.214G>A (p.Asp72Asn) c.85G>A (p.Asp29Asn) | |
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=) | |
7 | g.44145538G>T | CA454863146 | GCK | c.*1210C>A (n.*1210C>A) c.*332C>A (n.*332C>A) n.438C>A c.246C>A (p.Ile82=) c.1215C>A (p.Ile405=) c.1212C>A (p.Ile404=) c.1275C>A (p.Ile425=) n.224C>A c.264C>A (p.Ile88=) c.1209C>A (p.Ile403=) c.1161C>A (p.Ile387=) n.592C>A c.201C>A (p.Ile67=) c.72C>A (p.Ile24=) | gnomAD v4 |
7 | g.44145539A>C | CA367398398 | GCK | c.*1209T>G (n.*1209T>G) c.*331T>G (n.*331T>G) n.437T>G c.245T>G (p.Ile82Ser) c.1214T>G (p.Ile405Ser) c.1211T>G (p.Ile404Ser) c.1274T>G (p.Ile425Ser) n.223T>G c.263T>G (p.Ile88Ser) c.1208T>G (p.Ile403Ser) c.1160T>G (p.Ile387Ser) n.591T>G c.200T>G (p.Ile67Ser) c.71T>G (p.Ile24Ser) | |
7 | g.44145539A>G | CA367398400 | GCK | c.*1209T>C (n.*1209T>C) c.*331T>C (n.*331T>C) n.437T>C c.245T>C (p.Ile82Thr) c.1214T>C (p.Ile405Thr) c.1211T>C (p.Ile404Thr) c.1274T>C (p.Ile425Thr) n.223T>C c.263T>C (p.Ile88Thr) c.1208T>C (p.Ile403Thr) c.1160T>C (p.Ile387Thr) n.591T>C c.200T>C (p.Ile67Thr) c.71T>C (p.Ile24Thr) | |
7 | g.44145539A>T | CA367398401 | GCK | c.*1209T>A (n.*1209T>A) c.*331T>A (n.*331T>A) n.437T>A c.245T>A (p.Ile82Asn) c.1214T>A (p.Ile405Asn) c.1211T>A (p.Ile404Asn) c.1274T>A (p.Ile425Asn) n.223T>A c.263T>A (p.Ile88Asn) c.1208T>A (p.Ile403Asn) c.1160T>A (p.Ile387Asn) n.591T>A c.200T>A (p.Ile67Asn) c.71T>A (p.Ile24Asn) | |
7 | g.44145539_44145540del | CA2695202984 | GCK | c.*1208_*1209del (n.*1208_*1209del) c.*330_*331del (n.*330_*331del) n.436_437del c.244_245del (p.Ile82HisfsTer?) c.1213_1214del (p.Ile405HisfsTer?) c.1210_1211del (p.Ile404HisfsTer?) c.1273_1274del (p.Ile425HisfsTer?) n.222_223del c.262_263del (p.Ile88HisfsTer?) c.1207_1208del (p.Ile403HisfsTer?) c.1159_1160del (p.Ile387HisfsTer?) n.590_591del c.199_200del (p.Ile67HisfsTer?) c.70_71del (p.Ile24HisfsTer?) | |
7 | g.44145540T>A | CA367398409 | GCK | c.*1208A>T (n.*1208A>T) c.*330A>T (n.*330A>T) n.436A>T c.244A>T (p.Ile82Phe) c.1213A>T (p.Ile405Phe) c.1210A>T (p.Ile404Phe) c.1273A>T (p.Ile425Phe) n.222A>T c.262A>T (p.Ile88Phe) c.1207A>T (p.Ile403Phe) c.1159A>T (p.Ile387Phe) n.590A>T c.199A>T (p.Ile67Phe) c.70A>T (p.Ile24Phe) | |
7 | g.44145540T>C | CA367398411 | GCK | c.*1208A>G (n.*1208A>G) c.*330A>G (n.*330A>G) n.436A>G c.244A>G (p.Ile82Val) c.1213A>G (p.Ile405Val) c.1210A>G (p.Ile404Val) c.1273A>G (p.Ile425Val) n.222A>G c.262A>G (p.Ile88Val) c.1207A>G (p.Ile403Val) c.1159A>G (p.Ile387Val) n.590A>G c.199A>G (p.Ile67Val) c.70A>G (p.Ile24Val) | |
7 | g.44145540T>G | CA367398404 | GCK | c.*1208A>C (n.*1208A>C) c.*330A>C (n.*330A>C) n.436A>C c.244A>C (p.Ile82Leu) c.1213A>C (p.Ile405Leu) c.1210A>C (p.Ile404Leu) c.1273A>C (p.Ile425Leu) n.222A>C c.262A>C (p.Ile88Leu) c.1207A>C (p.Ile403Leu) c.1159A>C (p.Ile387Leu) n.590A>C c.199A>C (p.Ile67Leu) c.70A>C (p.Ile24Leu) | |
7 | g.44145540_44145567delinsTGCGCATTACGTCCTCGCTGCGGCTCTC | CA1703612863 | GCK | c.*1181_*1208delinsGAGAGCCGCAGCGAGGACGTAATGCGCA (n.*1181_*1208delinsGAGAGCCGCAGCGAGGACGTAATGCGCA) c.*303_*330delinsGAGAGCCGCAGCGAGGACGTAATGCGCA (n.*303_*330delinsGAGAGCCGCAGCGAGGACGTAATGCGCA) n.409_436delinsGAGAGCCGCAGCGAGGACGTAATGCGCA c.217_244delinsGAGAGCCGCAGCGAGGACGTAATGCGCA (p.Glu73=) c.1186_1213delinsGAGAGCCGCAGCGAGGACGTAATGCGCA (p.Glu396=) c.1183_1210delinsGAGAGCCGCAGCGAGGACGTAATGCGCA (p.Glu395=) c.1246_1273delinsGAGAGCCGCAGCGAGGACGTAATGCGCA (p.Glu416=) n.195_222delinsGAGAGCCGCAGCGAGGACGTAATGCGCA c.235_262delinsGAGAGCCGCAGCGAGGACGTAATGCGCA (p.Glu79=) c.1180_1207delinsGAGAGCCGCAGCGAGGACGTAATGCGCA (p.Glu394=) c.1132_1159delinsGAGAGCCGCAGCGAGGACGTAATGCGCA (p.Glu378=) n.563_590delinsGAGAGCCGCAGCGAGGACGTAATGCGCA c.172_199delinsGAGAGCCGCAGCGAGGACGTAATGCGCA (p.Glu58=) c.43_70delinsGAGAGCCGCAGCGAGGACGTAATGCGCA (p.Glu15=) | |
7 | g.44145541del | CA2695202986 | GCK | c.*1207del (n.*1207del) c.*329del (n.*329del) n.435del c.243del (p.Ile82SerfsTer27) c.1212del (p.Ile405SerfsTer27) c.1209del (p.Ile404SerfsTer27) c.1272del (p.Ile425SerfsTer27) n.221del c.261del (p.Ile88SerfsTer27) c.1206del (p.Ile403SerfsTer27) c.1158del (p.Ile387SerfsTer27) n.589del c.198del (p.Ile67SerfsTer27) c.69del (p.Ile24SerfsTer27) | |
7 | g.44145541G>A | CA454863149 | GCK | c.*1207C>T (n.*1207C>T) c.*329C>T (n.*329C>T) n.435C>T c.243C>T (p.Arg81=) c.1212C>T (p.Arg404=) c.1209C>T (p.Arg403=) c.1272C>T (p.Arg424=) n.221C>T c.261C>T (p.Arg87=) c.1206C>T (p.Arg402=) c.1158C>T (p.Arg386=) n.589C>T c.198C>T (p.Arg66=) c.69C>T (p.Arg23=) | gnomAD v4 |
7 | g.44145541G>C | CA454863150 | GCK | c.*1207C>G (n.*1207C>G) c.*329C>G (n.*329C>G) n.435C>G c.243C>G (p.Arg81=) c.1212C>G (p.Arg404=) c.1209C>G (p.Arg403=) c.1272C>G (p.Arg424=) n.221C>G c.261C>G (p.Arg87=) c.1206C>G (p.Arg402=) c.1158C>G (p.Arg386=) n.589C>G c.198C>G (p.Arg66=) c.69C>G (p.Arg23=) | |
7 | g.44145541G>T | CA454863151 | GCK | c.*1207C>A (n.*1207C>A) c.*329C>A (n.*329C>A) n.435C>A c.243C>A (p.Arg81=) c.1212C>A (p.Arg404=) c.1209C>A (p.Arg403=) c.1272C>A (p.Arg424=) n.221C>A c.261C>A (p.Arg87=) c.1206C>A (p.Arg402=) c.1158C>A (p.Arg386=) n.589C>A c.198C>A (p.Arg66=) c.69C>A (p.Arg23=) | gnomAD v4 |
7 | g.44145543_44145544del | CA2695202987 | GCK | c.*1206_*1207del (n.*1206_*1207del) c.*328_*329del (n.*328_*329del) n.434_435del c.242_243del (p.Arg81HisfsTer?) c.1211_1212del (p.Arg404HisfsTer?) c.1208_1209del (p.Arg403HisfsTer?) c.1271_1272del (p.Arg424HisfsTer?) n.220_221del c.260_261del (p.Arg87HisfsTer?) c.1205_1206del (p.Arg402HisfsTer?) c.1157_1158del (p.Arg386HisfsTer?) n.588_589del c.197_198del (p.Arg66HisfsTer?) c.68_69del (p.Arg23HisfsTer?) | |
7 | g.44145547_44145573del | CA574226172 | GCK | c.*1181_*1207del (n.*1181_*1207del) c.*303_*329del (n.*303_*329del) n.409_435del c.217_243del (p.Glu73_Arg81del) c.1186_1212del (p.Glu396_Arg404del) c.1183_1209del (p.Glu395_Arg403del) c.1246_1272del (p.Glu416_Arg424del) n.195_221del c.235_261del (p.Glu79_Arg87del) c.1180_1206del (p.Glu394_Arg402del) c.1132_1158del (p.Glu378_Arg386del) n.563_589del c.172_198del (p.Glu58_Arg66del) c.43_69del (p.Glu15_Arg23del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44145542C>A | CA157913358 | GCK | c.*1206G>T (n.*1206G>T) c.*328G>T (n.*328G>T) n.434G>T c.242G>T (p.Arg81Leu) c.1211G>T (p.Arg404Leu) c.1208G>T (p.Arg403Leu) c.1271G>T (p.Arg424Leu) n.220G>T c.260G>T (p.Arg87Leu) c.1205G>T (p.Arg402Leu) c.1157G>T (p.Arg386Leu) n.588G>T c.197G>T (p.Arg66Leu) c.68G>T (p.Arg23Leu) | dbSNP |
7 | g.44145542C= | CA1703612864 | GCK | c.*1206G= (n.*1206G=) c.*328G= (n.*328G=) n.434G= c.242G= (p.Arg81=) c.1211G= (p.Arg404=) c.1208G= (p.Arg403=) c.1271G= (p.Arg424=) n.220G= c.260G= (p.Arg87=) c.1205G= (p.Arg402=) c.1157G= (p.Arg386=) n.588G= c.197G= (p.Arg66=) c.68G= (p.Arg23=) | |
7 | g.44145542C>G | CA367398415 | GCK | c.*1206G>C (n.*1206G>C) c.*328G>C (n.*328G>C) n.434G>C c.242G>C (p.Arg81Pro) c.1211G>C (p.Arg404Pro) c.1208G>C (p.Arg403Pro) c.1271G>C (p.Arg424Pro) n.220G>C c.260G>C (p.Arg87Pro) c.1205G>C (p.Arg402Pro) c.1157G>C (p.Arg386Pro) n.588G>C c.197G>C (p.Arg66Pro) c.68G>C (p.Arg23Pro) | gnomAD v4 |
7 | g.44145542C>T | CA367398418 | GCK | c.*1206G>A (n.*1206G>A) c.*328G>A (n.*328G>A) n.434G>A c.242G>A (p.Arg81His) c.1211G>A (p.Arg404His) c.1208G>A (p.Arg403His) c.1271G>A (p.Arg424His) n.220G>A c.260G>A (p.Arg87His) c.1205G>A (p.Arg402His) c.1157G>A (p.Arg386His) n.588G>A c.197G>A (p.Arg66His) c.68G>A (p.Arg23His) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145543G>A | CA367398420 | GCK | c.*1205C>T (n.*1205C>T) c.*327C>T (n.*327C>T) n.433C>T c.241C>T (p.Arg81Cys) c.1210C>T (p.Arg404Cys) c.1207C>T (p.Arg403Cys) c.1270C>T (p.Arg424Cys) n.219C>T c.259C>T (p.Arg87Cys) c.1204C>T (p.Arg402Cys) c.1156C>T (p.Arg386Cys) n.587C>T c.196C>T (p.Arg66Cys) c.67C>T (p.Arg23Cys) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
7 | g.44145543G>C | CA213737 | GCK | c.*1205C>G (n.*1205C>G) c.*327C>G (n.*327C>G) n.433C>G c.241C>G (p.Arg81Gly) c.1210C>G (p.Arg404Gly) c.1207C>G (p.Arg403Gly) c.1270C>G (p.Arg424Gly) n.219C>G c.259C>G (p.Arg87Gly) c.1204C>G (p.Arg402Gly) c.1156C>G (p.Arg386Gly) n.587C>G c.196C>G (p.Arg66Gly) c.67C>G (p.Arg23Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.44145543G= | CA1703612865 | GCK | c.*1205C= (n.*1205C=) c.*327C= (n.*327C=) n.433C= c.241C= (p.Arg81=) c.1210C= (p.Arg404=) c.1207C= (p.Arg403=) c.1270C= (p.Arg424=) n.219C= c.259C= (p.Arg87=) c.1204C= (p.Arg402=) c.1156C= (p.Arg386=) n.587C= c.196C= (p.Arg66=) c.67C= (p.Arg23=) | |
7 | g.44145543G>T | CA157913370 | GCK | c.*1205C>A (n.*1205C>A) c.*327C>A (n.*327C>A) n.433C>A c.241C>A (p.Arg81Ser) c.1210C>A (p.Arg404Ser) c.1207C>A (p.Arg403Ser) c.1270C>A (p.Arg424Ser) n.219C>A c.259C>A (p.Arg87Ser) c.1204C>A (p.Arg402Ser) c.1156C>A (p.Arg386Ser) n.587C>A c.196C>A (p.Arg66Ser) c.67C>A (p.Arg23Ser) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145544C>A | CA367398426 | GCK | c.*1204G>T (n.*1204G>T) c.*326G>T (n.*326G>T) n.432G>T c.240G>T (p.Met80Ile) c.1209G>T (p.Met403Ile) c.1206G>T (p.Met402Ile) c.1269G>T (p.Met423Ile) n.218G>T c.258G>T (p.Met86Ile) c.1203G>T (p.Met401Ile) c.1155G>T (p.Met385Ile) n.586G>T c.195G>T (p.Met65Ile) c.66G>T (p.Met22Ile) | |
7 | g.44145544C>G | CA367398429 | GCK | c.*1204G>C (n.*1204G>C) c.*326G>C (n.*326G>C) n.432G>C c.240G>C (p.Met80Ile) c.1209G>C (p.Met403Ile) c.1206G>C (p.Met402Ile) c.1269G>C (p.Met423Ile) n.218G>C c.258G>C (p.Met86Ile) c.1203G>C (p.Met401Ile) c.1155G>C (p.Met385Ile) n.586G>C c.195G>C (p.Met65Ile) c.66G>C (p.Met22Ile) | |
7 | g.44145544C>T | CA367398431 | GCK | c.*1204G>A (n.*1204G>A) c.*326G>A (n.*326G>A) n.432G>A c.240G>A (p.Met80Ile) c.1209G>A (p.Met403Ile) c.1206G>A (p.Met402Ile) c.1269G>A (p.Met423Ile) n.218G>A c.258G>A (p.Met86Ile) c.1203G>A (p.Met401Ile) c.1155G>A (p.Met385Ile) n.586G>A c.195G>A (p.Met65Ile) c.66G>A (p.Met22Ile) | gnomAD v4 |
7 | g.44145545A>C | CA367398432 | GCK | c.*1203T>G (n.*1203T>G) c.*325T>G (n.*325T>G) n.431T>G c.239T>G (p.Met80Arg) c.1208T>G (p.Met403Arg) c.1205T>G (p.Met402Arg) c.1268T>G (p.Met423Arg) n.217T>G c.257T>G (p.Met86Arg) c.1202T>G (p.Met401Arg) c.1154T>G (p.Met385Arg) n.585T>G c.194T>G (p.Met65Arg) c.65T>G (p.Met22Arg) | |
7 | g.44145545A>G | CA367398435 | GCK | c.*1203T>C (n.*1203T>C) c.*325T>C (n.*325T>C) n.431T>C c.239T>C (p.Met80Thr) c.1208T>C (p.Met403Thr) c.1205T>C (p.Met402Thr) c.1268T>C (p.Met423Thr) n.217T>C c.257T>C (p.Met86Thr) c.1202T>C (p.Met401Thr) c.1154T>C (p.Met385Thr) n.585T>C c.194T>C (p.Met65Thr) c.65T>C (p.Met22Thr) | |
7 | g.44145545A>T | CA367398436 | GCK | c.*1203T>A (n.*1203T>A) c.*325T>A (n.*325T>A) n.431T>A c.239T>A (p.Met80Lys) c.1208T>A (p.Met403Lys) c.1205T>A (p.Met402Lys) c.1268T>A (p.Met423Lys) n.217T>A c.257T>A (p.Met86Lys) c.1202T>A (p.Met401Lys) c.1154T>A (p.Met385Lys) n.585T>A c.194T>A (p.Met65Lys) c.65T>A (p.Met22Lys) | |
7 | g.44145546T>A | CA367398439 | GCK | c.*1202A>T (n.*1202A>T) c.*324A>T (n.*324A>T) n.430A>T c.238A>T (p.Met80Leu) c.1207A>T (p.Met403Leu) c.1204A>T (p.Met402Leu) c.1267A>T (p.Met423Leu) n.216A>T c.256A>T (p.Met86Leu) c.1201A>T (p.Met401Leu) c.1153A>T (p.Met385Leu) n.584A>T c.193A>T (p.Met65Leu) c.64A>T (p.Met22Leu) | |
7 | g.44145546T>C | CA367398442 | GCK | c.*1202A>G (n.*1202A>G) c.*324A>G (n.*324A>G) n.430A>G c.238A>G (p.Met80Val) c.1207A>G (p.Met403Val) c.1204A>G (p.Met402Val) c.1267A>G (p.Met423Val) n.216A>G c.256A>G (p.Met86Val) c.1201A>G (p.Met401Val) c.1153A>G (p.Met385Val) n.584A>G c.193A>G (p.Met65Val) c.64A>G (p.Met22Val) | |
7 | g.44145546T>G | CA367398438 | GCK | c.*1202A>C (n.*1202A>C) c.*324A>C (n.*324A>C) n.430A>C c.238A>C (p.Met80Leu) c.1207A>C (p.Met403Leu) c.1204A>C (p.Met402Leu) c.1267A>C (p.Met423Leu) n.216A>C c.256A>C (p.Met86Leu) c.1201A>C (p.Met401Leu) c.1153A>C (p.Met385Leu) n.584A>C c.193A>C (p.Met65Leu) c.64A>C (p.Met22Leu) | |
7 | g.44145547T>A | CA454863157 | GCK | c.*1201A>T (n.*1201A>T) c.*323A>T (n.*323A>T) n.429A>T c.237A>T (p.Val79=) c.1206A>T (p.Val402=) c.1203A>T (p.Val401=) c.1266A>T (p.Val422=) n.215A>T c.255A>T (p.Val85=) c.1200A>T (p.Val400=) c.1152A>T (p.Val384=) n.583A>T c.192A>T (p.Val64=) c.63A>T (p.Val21=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44145547T>C | CA454863158 | GCK | c.*1201A>G (n.*1201A>G) c.*323A>G (n.*323A>G) n.429A>G c.237A>G (p.Val79=) c.1206A>G (p.Val402=) c.1203A>G (p.Val401=) c.1266A>G (p.Val422=) n.215A>G c.255A>G (p.Val85=) c.1200A>G (p.Val400=) c.1152A>G (p.Val384=) n.583A>G c.192A>G (p.Val64=) c.63A>G (p.Val21=) | |
7 | g.44145547T>G | CA454863159 | GCK | c.*1201A>C (n.*1201A>C) c.*323A>C (n.*323A>C) n.429A>C c.237A>C (p.Val79=) c.1206A>C (p.Val402=) c.1203A>C (p.Val401=) c.1266A>C (p.Val422=) n.215A>C c.255A>C (p.Val85=) c.1200A>C (p.Val400=) c.1152A>C (p.Val384=) n.583A>C c.192A>C (p.Val64=) c.63A>C (p.Val21=) | |
7 | g.44145547T= | CA1703612866 | GCK | c.*1201A= (n.*1201A=) c.*323A= (n.*323A=) n.429A= c.237A= (p.Val79=) c.1206A= (p.Val402=) c.1203A= (p.Val401=) c.1266A= (p.Val422=) n.215A= c.255A= (p.Val85=) c.1200A= (p.Val400=) c.1152A= (p.Val384=) n.583A= c.192A= (p.Val64=) c.63A= (p.Val21=) | |
7 | g.44145548A>C | CA367398445 | GCK | c.*1200T>G (n.*1200T>G) c.*322T>G (n.*322T>G) n.428T>G c.236T>G (p.Val79Gly) c.1205T>G (p.Val402Gly) c.1202T>G (p.Val401Gly) c.1265T>G (p.Val422Gly) n.214T>G c.254T>G (p.Val85Gly) c.1199T>G (p.Val400Gly) c.1151T>G (p.Val384Gly) n.582T>G c.191T>G (p.Val64Gly) c.62T>G (p.Val21Gly) | |
7 | g.44145548A>G | CA367398446 | GCK | c.*1200T>C (n.*1200T>C) c.*322T>C (n.*322T>C) n.428T>C c.236T>C (p.Val79Ala) c.1205T>C (p.Val402Ala) c.1202T>C (p.Val401Ala) c.1265T>C (p.Val422Ala) n.214T>C c.254T>C (p.Val85Ala) c.1199T>C (p.Val400Ala) c.1151T>C (p.Val384Ala) n.582T>C c.191T>C (p.Val64Ala) c.62T>C (p.Val21Ala) | |
7 | g.44145548A>T | CA367398448 | GCK | c.*1200T>A (n.*1200T>A) c.*322T>A (n.*322T>A) n.428T>A c.236T>A (p.Val79Glu) c.1205T>A (p.Val402Glu) c.1202T>A (p.Val401Glu) c.1265T>A (p.Val422Glu) n.214T>A c.254T>A (p.Val85Glu) c.1199T>A (p.Val400Glu) c.1151T>A (p.Val384Glu) n.582T>A c.191T>A (p.Val64Glu) c.62T>A (p.Val21Glu) | |
7 | g.44145549del | CA2695202989 | GCK | c.*1199del (n.*1199del) c.*321del (n.*321del) n.427del c.235del (p.Val79Ter) c.1204del (p.Val402Ter) c.1201del (p.Val401Ter) c.1264del (p.Val422Ter) n.213del c.253del (p.Val85Ter) c.1198del (p.Val400Ter) c.1150del (p.Val384Ter) n.581del c.190del (p.Val64Ter) c.61del (p.Val21Ter) | |
7 | g.44145549C>A | CA367398450 | GCK | c.*1199G>T (n.*1199G>T) c.*321G>T (n.*321G>T) n.427G>T c.235G>T (p.Val79Leu) c.1204G>T (p.Val402Leu) c.1201G>T (p.Val401Leu) c.1264G>T (p.Val422Leu) n.213G>T c.253G>T (p.Val85Leu) c.1198G>T (p.Val400Leu) c.1150G>T (p.Val384Leu) n.581G>T c.190G>T (p.Val64Leu) c.61G>T (p.Val21Leu) | |
7 | g.44145549C= | CA1703612867 | GCK | c.*1199G= (n.*1199G=) c.*321G= (n.*321G=) n.427G= c.235G= (p.Val79=) c.1204G= (p.Val402=) c.1201G= (p.Val401=) c.1264G= (p.Val422=) n.213G= c.253G= (p.Val85=) c.1198G= (p.Val400=) c.1150G= (p.Val384=) n.581G= c.190G= (p.Val64=) c.61G= (p.Val21=) | |
7 | g.44145549C>G | CA367398453 | GCK | c.*1199G>C (n.*1199G>C) c.*321G>C (n.*321G>C) n.427G>C c.235G>C (p.Val79Leu) c.1204G>C (p.Val402Leu) c.1201G>C (p.Val401Leu) c.1264G>C (p.Val422Leu) n.213G>C c.253G>C (p.Val85Leu) c.1198G>C (p.Val400Leu) c.1150G>C (p.Val384Leu) n.581G>C c.190G>C (p.Val64Leu) c.61G>C (p.Val21Leu) | dbSNP gnomAD v2 |
7 | g.44145549C>T | CA4239414 | GCK | c.*1199G>A (n.*1199G>A) c.*321G>A (n.*321G>A) n.427G>A c.235G>A (p.Val79Ile) c.1204G>A (p.Val402Ile) c.1201G>A (p.Val401Ile) c.1264G>A (p.Val422Ile) n.213G>A c.253G>A (p.Val85Ile) c.1198G>A (p.Val400Ile) c.1150G>A (p.Val384Ile) n.581G>A c.190G>A (p.Val64Ile) c.61G>A (p.Val21Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44145550G>A | CA454863160 | GCK | c.*1198C>T (n.*1198C>T) c.*320C>T (n.*320C>T) n.426C>T c.234C>T (p.Asp78=) c.1203C>T (p.Asp401=) c.1200C>T (p.Asp400=) c.1263C>T (p.Asp421=) n.212C>T c.252C>T (p.Asp84=) c.1197C>T (p.Asp399=) c.1149C>T (p.Asp383=) n.580C>T c.189C>T (p.Asp63=) c.60C>T (p.Asp20=) | |
7 | g.44145550G>C | CA4239415 | GCK | c.*1198C>G (n.*1198C>G) c.*320C>G (n.*320C>G) n.426C>G c.234C>G (p.Asp78Glu) c.1203C>G (p.Asp401Glu) c.1200C>G (p.Asp400Glu) c.1263C>G (p.Asp421Glu) n.212C>G c.252C>G (p.Asp84Glu) c.1197C>G (p.Asp399Glu) c.1149C>G (p.Asp383Glu) n.580C>G c.189C>G (p.Asp63Glu) c.60C>G (p.Asp20Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.44145550G= | CA1703612868 | GCK | c.*1198C= (n.*1198C=) c.*320C= (n.*320C=) n.426C= c.234C= (p.Asp78=) c.1203C= (p.Asp401=) c.1200C= (p.Asp400=) c.1263C= (p.Asp421=) n.212C= c.252C= (p.Asp84=) c.1197C= (p.Asp399=) c.1149C= (p.Asp383=) n.580C= c.189C= (p.Asp63=) c.60C= (p.Asp20=) | |
7 | g.44145550G>T | CA367398459 | GCK | c.*1198C>A (n.*1198C>A) c.*320C>A (n.*320C>A) n.426C>A c.234C>A (p.Asp78Glu) c.1203C>A (p.Asp401Glu) c.1200C>A (p.Asp400Glu) c.1263C>A (p.Asp421Glu) n.212C>A c.252C>A (p.Asp84Glu) c.1197C>A (p.Asp399Glu) c.1149C>A (p.Asp383Glu) n.580C>A c.189C>A (p.Asp63Glu) c.60C>A (p.Asp20Glu) | gnomAD v4 |
7 | g.44145551T>A | CA367398463 | GCK | c.*1197A>T (n.*1197A>T) c.*319A>T (n.*319A>T) n.425A>T c.233A>T (p.Asp78Val) c.1202A>T (p.Asp401Val) c.1199A>T (p.Asp400Val) c.1262A>T (p.Asp421Val) n.211A>T c.251A>T (p.Asp84Val) c.1196A>T (p.Asp399Val) c.1148A>T (p.Asp383Val) n.579A>T c.188A>T (p.Asp63Val) c.59A>T (p.Asp20Val) | |
7 | g.44145551T>C | CA4239416 | GCK | c.*1197A>G (n.*1197A>G) c.*319A>G (n.*319A>G) n.425A>G c.233A>G (p.Asp78Gly) c.1202A>G (p.Asp401Gly) c.1199A>G (p.Asp400Gly) c.1262A>G (p.Asp421Gly) n.211A>G c.251A>G (p.Asp84Gly) c.1196A>G (p.Asp399Gly) c.1148A>G (p.Asp383Gly) n.579A>G c.188A>G (p.Asp63Gly) c.59A>G (p.Asp20Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.44145551T>G | CA367398469 | GCK | c.*1197A>C (n.*1197A>C) c.*319A>C (n.*319A>C) n.425A>C c.233A>C (p.Asp78Ala) c.1202A>C (p.Asp401Ala) c.1199A>C (p.Asp400Ala) c.1262A>C (p.Asp421Ala) n.211A>C c.251A>C (p.Asp84Ala) c.1196A>C (p.Asp399Ala) c.1148A>C (p.Asp383Ala) n.579A>C c.188A>C (p.Asp63Ala) c.59A>C (p.Asp20Ala) | |
7 | g.44145551T= | CA1703612869 | GCK | c.*1197A= (n.*1197A=) c.*319A= (n.*319A=) n.425A= c.233A= (p.Asp78=) c.1202A= (p.Asp401=) c.1199A= (p.Asp400=) c.1262A= (p.Asp421=) n.211A= c.251A= (p.Asp84=) c.1196A= (p.Asp399=) c.1148A= (p.Asp383=) n.579A= c.188A= (p.Asp63=) c.59A= (p.Asp20=) | |
7 | g.44145552C>A | CA367398472 | GCK | c.*1196G>T (n.*1196G>T) c.*318G>T (n.*318G>T) n.424G>T c.232G>T (p.Asp78Tyr) c.1201G>T (p.Asp401Tyr) c.1198G>T (p.Asp400Tyr) c.1261G>T (p.Asp421Tyr) n.210G>T c.250G>T (p.Asp84Tyr) c.1195G>T (p.Asp399Tyr) c.1147G>T (p.Asp383Tyr) n.578G>T c.187G>T (p.Asp63Tyr) c.58G>T (p.Asp20Tyr) | |
7 | g.44145552C= | CA1703612870 | GCK | c.*1196G= (n.*1196G=) c.*318G= (n.*318G=) n.424G= c.232G= (p.Asp78=) c.1201G= (p.Asp401=) c.1198G= (p.Asp400=) c.1261G= (p.Asp421=) n.210G= c.250G= (p.Asp84=) c.1195G= (p.Asp399=) c.1147G= (p.Asp383=) n.578G= c.187G= (p.Asp63=) c.58G= (p.Asp20=) | |
7 | g.44145552C>G | CA367398474 | GCK | c.*1196G>C (n.*1196G>C) c.*318G>C (n.*318G>C) n.424G>C c.232G>C (p.Asp78His) c.1201G>C (p.Asp401His) c.1198G>C (p.Asp400His) c.1261G>C (p.Asp421His) n.210G>C c.250G>C (p.Asp84His) c.1195G>C (p.Asp399His) c.1147G>C (p.Asp383His) n.578G>C c.187G>C (p.Asp63His) c.58G>C (p.Asp20His) | |
7 | g.44145552C>T | CA157913408 | GCK | c.*1196G>A (n.*1196G>A) c.*318G>A (n.*318G>A) n.424G>A c.232G>A (p.Asp78Asn) c.1201G>A (p.Asp401Asn) c.1198G>A (p.Asp400Asn) c.1261G>A (p.Asp421Asn) n.210G>A c.250G>A (p.Asp84Asn) c.1195G>A (p.Asp399Asn) c.1147G>A (p.Asp383Asn) n.578G>A c.187G>A (p.Asp63Asn) c.58G>A (p.Asp20Asn) | dbSNP gnomAD v4 |
7 | g.44145553del | CA2682581306 | GCK | c.*1196del (n.*1196del) c.*318del (n.*318del) n.424del c.232del (p.Asp78ThrfsTer2) c.1201del (p.Asp401ThrfsTer2) c.1198del (p.Asp400ThrfsTer2) c.1261del (p.Asp421ThrfsTer2) n.210del c.250del (p.Asp84ThrfsTer2) c.1195del (p.Asp399ThrfsTer2) c.1147del (p.Asp383ThrfsTer2) n.578del c.187del (p.Asp63ThrfsTer2) c.58del (p.Asp20ThrfsTer2) | gnomAD v4 |
7 | g.44145553C>A | CA367398483 | GCK | c.*1195G>T (n.*1195G>T) c.*317G>T (n.*317G>T) n.423G>T c.231G>T (p.Glu77Asp) c.1200G>T (p.Glu400Asp) c.1197G>T (p.Glu399Asp) c.1260G>T (p.Glu420Asp) n.209G>T c.249G>T (p.Glu83Asp) c.1194G>T (p.Glu398Asp) c.1146G>T (p.Glu382Asp) n.577G>T c.186G>T (p.Glu62Asp) c.57G>T (p.Glu19Asp) | gnomAD v4 |
7 | g.44145553C>G | CA367398480 | GCK | c.*1195G>C (n.*1195G>C) c.*317G>C (n.*317G>C) n.423G>C c.231G>C (p.Glu77Asp) c.1200G>C (p.Glu400Asp) c.1197G>C (p.Glu399Asp) c.1260G>C (p.Glu420Asp) n.209G>C c.249G>C (p.Glu83Asp) c.1194G>C (p.Glu398Asp) c.1146G>C (p.Glu382Asp) n.577G>C c.186G>C (p.Glu62Asp) c.57G>C (p.Glu19Asp) | |
7 | g.44145553C>T | CA454863164 | GCK | c.*1195G>A (n.*1195G>A) c.*317G>A (n.*317G>A) n.423G>A c.231G>A (p.Glu77=) c.1200G>A (p.Glu400=) c.1197G>A (p.Glu399=) c.1260G>A (p.Glu420=) n.209G>A c.249G>A (p.Glu83=) c.1194G>A (p.Glu398=) c.1146G>A (p.Glu382=) n.577G>A c.186G>A (p.Glu62=) c.57G>A (p.Glu19=) | |
7 | g.44145554T>A | CA367398486 | GCK | c.*1194A>T (n.*1194A>T) c.*316A>T (n.*316A>T) n.422A>T c.230A>T (p.Glu77Val) c.1199A>T (p.Glu400Val) c.1196A>T (p.Glu399Val) c.1259A>T (p.Glu420Val) n.208A>T c.248A>T (p.Glu83Val) c.1193A>T (p.Glu398Val) c.1145A>T (p.Glu382Val) n.576A>T c.185A>T (p.Glu62Val) c.56A>T (p.Glu19Val) | |
7 | g.44145554T>C | CA367398489 | GCK | c.*1194A>G (n.*1194A>G) c.*316A>G (n.*316A>G) n.422A>G c.230A>G (p.Glu77Gly) c.1199A>G (p.Glu400Gly) c.1196A>G (p.Glu399Gly) c.1259A>G (p.Glu420Gly) n.208A>G c.248A>G (p.Glu83Gly) c.1193A>G (p.Glu398Gly) c.1145A>G (p.Glu382Gly) n.576A>G c.185A>G (p.Glu62Gly) c.56A>G (p.Glu19Gly) | gnomAD v4 |
7 | g.44145554T>G | CA367398487 | GCK | c.*1194A>C (n.*1194A>C) c.*316A>C (n.*316A>C) n.422A>C c.230A>C (p.Glu77Ala) c.1199A>C (p.Glu400Ala) c.1196A>C (p.Glu399Ala) c.1259A>C (p.Glu420Ala) n.208A>C c.248A>C (p.Glu83Ala) c.1193A>C (p.Glu398Ala) c.1145A>C (p.Glu382Ala) n.576A>C c.185A>C (p.Glu62Ala) c.56A>C (p.Glu19Ala) | |
7 | g.44145555C>A | CA367398495 | GCK | c.*1193G>T (n.*1193G>T) c.*315G>T (n.*315G>T) n.421G>T c.229G>T (p.Glu77Ter) c.1198G>T (p.Glu400Ter) c.1195G>T (p.Glu399Ter) c.1258G>T (p.Glu420Ter) n.207G>T c.247G>T (p.Glu83Ter) c.1192G>T (p.Glu398Ter) c.1144G>T (p.Glu382Ter) n.575G>T c.184G>T (p.Glu62Ter) c.55G>T (p.Glu19Ter) | ClinVar gnomAD v4 |
7 | g.44145555C= | CA1703612871 | GCK | c.*1193G= (n.*1193G=) c.*315G= (n.*315G=) n.421G= c.229G= (p.Glu77=) c.1198G= (p.Glu400=) c.1195G= (p.Glu399=) c.1258G= (p.Glu420=) n.207G= c.247G= (p.Glu83=) c.1192G= (p.Glu398=) c.1144G= (p.Glu382=) n.575G= c.184G= (p.Glu62=) c.55G= (p.Glu19=) | |
7 | g.44145555C>G | CA367398498 | GCK | c.*1193G>C (n.*1193G>C) c.*315G>C (n.*315G>C) n.421G>C c.229G>C (p.Glu77Gln) c.1198G>C (p.Glu400Gln) c.1195G>C (p.Glu399Gln) c.1258G>C (p.Glu420Gln) n.207G>C c.247G>C (p.Glu83Gln) c.1192G>C (p.Glu398Gln) c.1144G>C (p.Glu382Gln) n.575G>C c.184G>C (p.Glu62Gln) c.55G>C (p.Glu19Gln) | |
7 | g.44145555C>T | CA4239417 | GCK | c.*1193G>A (n.*1193G>A) c.*315G>A (n.*315G>A) n.421G>A c.229G>A (p.Glu77Lys) c.1198G>A (p.Glu400Lys) c.1195G>A (p.Glu399Lys) c.1258G>A (p.Glu420Lys) n.207G>A c.247G>A (p.Glu83Lys) c.1192G>A (p.Glu398Lys) c.1144G>A (p.Glu382Lys) n.575G>A c.184G>A (p.Glu62Lys) c.55G>A (p.Glu19Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
7 | g.44145558_44145571del | CA2695202991 | GCK | c.*1180_*1193del (n.*1180_*1193del) c.*302_*315del (n.*302_*315del) n.408_421del c.216_229del (p.Glu73GlyfsTer?) c.1185_1198del (p.Glu396GlyfsTer?) c.1182_1195del (p.Glu395GlyfsTer?) c.1245_1258del (p.Glu416GlyfsTer?) n.194_207del c.234_247del (p.Glu79GlyfsTer?) c.1179_1192del (p.Glu394GlyfsTer?) c.1131_1144del (p.Glu378GlyfsTer?) n.562_575del c.171_184del (p.Glu58GlyfsTer?) c.42_55del (p.Glu15GlyfsTer?) | |
7 | g.44145556G>A | CA454863166 | GCK | c.*1192C>T (n.*1192C>T) c.*314C>T (n.*314C>T) n.420C>T c.228C>T (p.Ser76=) c.1197C>T (p.Ser399=) c.1194C>T (p.Ser398=) c.1257C>T (p.Ser419=) n.206C>T c.246C>T (p.Ser82=) c.1191C>T (p.Ser397=) c.1143C>T (p.Ser381=) n.574C>T c.183C>T (p.Ser61=) c.54C>T (p.Ser18=) | |
7 | g.44145556G>C | CA367398508 | GCK | c.*1192C>G (n.*1192C>G) c.*314C>G (n.*314C>G) n.420C>G c.228C>G (p.Ser76Arg) c.1197C>G (p.Ser399Arg) c.1194C>G (p.Ser398Arg) c.1257C>G (p.Ser419Arg) n.206C>G c.246C>G (p.Ser82Arg) c.1191C>G (p.Ser397Arg) c.1143C>G (p.Ser381Arg) n.574C>G c.183C>G (p.Ser61Arg) c.54C>G (p.Ser18Arg) | |
7 | g.44145556G>T | CA367398510 | GCK | c.*1192C>A (n.*1192C>A) c.*314C>A (n.*314C>A) n.420C>A c.228C>A (p.Ser76Arg) c.1197C>A (p.Ser399Arg) c.1194C>A (p.Ser398Arg) c.1257C>A (p.Ser419Arg) n.206C>A c.246C>A (p.Ser82Arg) c.1191C>A (p.Ser397Arg) c.1143C>A (p.Ser381Arg) n.574C>A c.183C>A (p.Ser61Arg) c.54C>A (p.Ser18Arg) | gnomAD v4 |
7 | g.44145557C>A | CA367398519 | GCK | c.*1191G>T (n.*1191G>T) c.*313G>T (n.*313G>T) n.419G>T c.227G>T (p.Ser76Ile) c.1196G>T (p.Ser399Ile) c.1193G>T (p.Ser398Ile) c.1256G>T (p.Ser419Ile) n.205G>T c.245G>T (p.Ser82Ile) c.1190G>T (p.Ser397Ile) c.1142G>T (p.Ser381Ile) n.573G>T c.182G>T (p.Ser61Ile) c.53G>T (p.Ser18Ile) | gnomAD v4 |
7 | g.44145557C= | CA1703612872 | GCK | c.*1191G= (n.*1191G=) c.*313G= (n.*313G=) n.419G= c.227G= (p.Ser76=) c.1196G= (p.Ser399=) c.1193G= (p.Ser398=) c.1256G= (p.Ser419=) n.205G= c.245G= (p.Ser82=) c.1190G= (p.Ser397=) c.1142G= (p.Ser381=) n.573G= c.182G= (p.Ser61=) c.53G= (p.Ser18=) | |
7 | g.44145557C>G | CA367398516 | GCK | c.*1191G>C (n.*1191G>C) c.*313G>C (n.*313G>C) n.419G>C c.227G>C (p.Ser76Thr) c.1196G>C (p.Ser399Thr) c.1193G>C (p.Ser398Thr) c.1256G>C (p.Ser419Thr) n.205G>C c.245G>C (p.Ser82Thr) c.1190G>C (p.Ser397Thr) c.1142G>C (p.Ser381Thr) n.573G>C c.182G>C (p.Ser61Thr) c.53G>C (p.Ser18Thr) | |
7 | g.44145557C>T | CA367398513 | GCK | c.*1191G>A (n.*1191G>A) c.*313G>A (n.*313G>A) n.419G>A c.227G>A (p.Ser76Asn) c.1196G>A (p.Ser399Asn) c.1193G>A (p.Ser398Asn) c.1256G>A (p.Ser419Asn) n.205G>A c.245G>A (p.Ser82Asn) c.1190G>A (p.Ser397Asn) c.1142G>A (p.Ser381Asn) n.573G>A c.182G>A (p.Ser61Asn) c.53G>A (p.Ser18Asn) | dbSNP gnomAD v2 |
7 | g.44145559_44145566del | CA2695202992 | GCK | c.*1184_*1191del (n.*1184_*1191del) c.*306_*313del (n.*306_*313del) n.412_419del c.220_227del (p.Ser74ArgfsTer?) c.1189_1196del (p.Ser397ArgfsTer?) c.1186_1193del (p.Ser396ArgfsTer?) c.1249_1256del (p.Ser417ArgfsTer?) n.198_205del c.238_245del (p.Ser80ArgfsTer?) c.1183_1190del (p.Ser395ArgfsTer?) c.1135_1142del (p.Ser379ArgfsTer?) n.566_573del c.175_182del (p.Ser59ArgfsTer?) c.46_53del (p.Ser16ArgfsTer?) | |
7 | g.44145558T>A | CA367398522 | GCK | c.*1190A>T (n.*1190A>T) c.*312A>T (n.*312A>T) n.418A>T c.226A>T (p.Ser76Cys) c.1195A>T (p.Ser399Cys) c.1192A>T (p.Ser398Cys) c.1255A>T (p.Ser419Cys) n.204A>T c.244A>T (p.Ser82Cys) c.1189A>T (p.Ser397Cys) c.1141A>T (p.Ser381Cys) n.572A>T c.181A>T (p.Ser61Cys) c.52A>T (p.Ser18Cys) | |
7 | g.44145558T>C | CA367398524 | GCK | c.*1190A>G (n.*1190A>G) c.*312A>G (n.*312A>G) n.418A>G c.226A>G (p.Ser76Gly) c.1195A>G (p.Ser399Gly) c.1192A>G (p.Ser398Gly) c.1255A>G (p.Ser419Gly) n.204A>G c.244A>G (p.Ser82Gly) c.1189A>G (p.Ser397Gly) c.1141A>G (p.Ser381Gly) n.572A>G c.181A>G (p.Ser61Gly) c.52A>G (p.Ser18Gly) | gnomAD v4 |
7 | g.44145558T>G | CA367398527 | GCK | c.*1190A>C (n.*1190A>C) c.*312A>C (n.*312A>C) n.418A>C c.226A>C (p.Ser76Arg) c.1195A>C (p.Ser399Arg) c.1192A>C (p.Ser398Arg) c.1255A>C (p.Ser419Arg) n.204A>C c.244A>C (p.Ser82Arg) c.1189A>C (p.Ser397Arg) c.1141A>C (p.Ser381Arg) n.572A>C c.181A>C (p.Ser61Arg) c.52A>C (p.Ser18Arg) | |
7 | g.44145558_44145568del | CA2695202993 | GCK | c.*1180_*1190del (n.*1180_*1190del) c.*302_*312del (n.*302_*312del) n.408_418del c.216_226del (p.Glu73ArgfsTer?) c.1185_1195del (p.Glu396ArgfsTer?) c.1182_1192del (p.Glu395ArgfsTer?) c.1245_1255del (p.Glu416ArgfsTer?) n.194_204del c.234_244del (p.Glu79ArgfsTer?) c.1179_1189del (p.Glu394ArgfsTer?) c.1131_1141del (p.Glu378ArgfsTer?) n.562_572del c.171_181del (p.Glu58ArgfsTer?) c.42_52del (p.Glu15ArgfsTer?) | |
7 | g.44145559G>A | CA454863170 | GCK | c.*1189C>T (n.*1189C>T) c.*311C>T (n.*311C>T) n.417C>T c.225C>T (p.Arg75=) c.1194C>T (p.Arg398=) c.1191C>T (p.Arg397=) c.1254C>T (p.Arg418=) n.203C>T c.243C>T (p.Arg81=) c.1188C>T (p.Arg396=) c.1140C>T (p.Arg380=) n.571C>T c.180C>T (p.Arg60=) c.51C>T (p.Arg17=) | gnomAD v4 |
7 | g.44145559G>C | CA454863171 | GCK | c.*1189C>G (n.*1189C>G) c.*311C>G (n.*311C>G) n.417C>G c.225C>G (p.Arg75=) c.1194C>G (p.Arg398=) c.1191C>G (p.Arg397=) c.1254C>G (p.Arg418=) n.203C>G c.243C>G (p.Arg81=) c.1188C>G (p.Arg396=) c.1140C>G (p.Arg380=) n.571C>G c.180C>G (p.Arg60=) c.51C>G (p.Arg17=) | |
7 | g.44145559G>T | CA454863172 | GCK | c.*1189C>A (n.*1189C>A) c.*311C>A (n.*311C>A) n.417C>A c.225C>A (p.Arg75=) c.1194C>A (p.Arg398=) c.1191C>A (p.Arg397=) c.1254C>A (p.Arg418=) n.203C>A c.243C>A (p.Arg81=) c.1188C>A (p.Arg396=) c.1140C>A (p.Arg380=) n.571C>A c.180C>A (p.Arg60=) c.51C>A (p.Arg17=) | gnomAD v4 |
7 | g.44145560C>A | CA341587 | GCK | c.*1188G>T (n.*1188G>T) c.*310G>T (n.*310G>T) n.416G>T c.224G>T (p.Arg75Leu) c.1193G>T (p.Arg398Leu) c.1190G>T (p.Arg397Leu) c.1253G>T (p.Arg418Leu) n.202G>T c.242G>T (p.Arg81Leu) c.1187G>T (p.Arg396Leu) c.1139G>T (p.Arg380Leu) n.570G>T c.179G>T (p.Arg60Leu) c.50G>T (p.Arg17Leu) | ClinVar dbSNP gnomAD v4 |
7 | g.44145560C= | CA1703612873 | GCK | c.*1188G= (n.*1188G=) c.*310G= (n.*310G=) n.416G= c.224G= (p.Arg75=) c.1193G= (p.Arg398=) c.1190G= (p.Arg397=) c.1253G= (p.Arg418=) n.202G= c.242G= (p.Arg81=) c.1187G= (p.Arg396=) c.1139G= (p.Arg380=) n.570G= c.179G= (p.Arg60=) c.50G= (p.Arg17=) | |
7 | g.44145560C>G | CA367398531 | GCK | c.*1188G>C (n.*1188G>C) c.*310G>C (n.*310G>C) n.416G>C c.224G>C (p.Arg75Pro) c.1193G>C (p.Arg398Pro) c.1190G>C (p.Arg397Pro) c.1253G>C (p.Arg418Pro) n.202G>C c.242G>C (p.Arg81Pro) c.1187G>C (p.Arg396Pro) c.1139G>C (p.Arg380Pro) n.570G>C c.179G>C (p.Arg60Pro) c.50G>C (p.Arg17Pro) | |
7 | g.44145560C>T | CA367398533 | GCK | c.*1188G>A (n.*1188G>A) c.*310G>A (n.*310G>A) n.416G>A c.224G>A (p.Arg75His) c.1193G>A (p.Arg398His) c.1190G>A (p.Arg397His) c.1253G>A (p.Arg418His) n.202G>A c.242G>A (p.Arg81His) c.1187G>A (p.Arg396His) c.1139G>A (p.Arg380His) n.570G>A c.179G>A (p.Arg60His) c.50G>A (p.Arg17His) | ClinVar dbSNP gnomAD v4 |
7 | g.44145561G>A | CA4239418 | GCK | c.*1187C>T (n.*1187C>T) c.*309C>T (n.*309C>T) n.415C>T c.223C>T (p.Arg75Cys) c.1192C>T (p.Arg398Cys) c.1189C>T (p.Arg397Cys) c.1252C>T (p.Arg418Cys) n.201C>T c.241C>T (p.Arg81Cys) c.1186C>T (p.Arg396Cys) c.1138C>T (p.Arg380Cys) n.569C>T c.178C>T (p.Arg60Cys) c.49C>T (p.Arg17Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.44145561G>C | CA367398536 | GCK | c.*1187C>G (n.*1187C>G) c.*309C>G (n.*309C>G) n.415C>G c.223C>G (p.Arg75Gly) c.1192C>G (p.Arg398Gly) c.1189C>G (p.Arg397Gly) c.1252C>G (p.Arg418Gly) n.201C>G c.241C>G (p.Arg81Gly) c.1186C>G (p.Arg396Gly) c.1138C>G (p.Arg380Gly) n.569C>G c.178C>G (p.Arg60Gly) c.49C>G (p.Arg17Gly) | ClinVar |
7 | g.44145561G= | CA1703612874 | GCK | c.*1187C= (n.*1187C=) c.*309C= (n.*309C=) n.415C= c.223C= (p.Arg75=) c.1192C= (p.Arg398=) c.1189C= (p.Arg397=) c.1252C= (p.Arg418=) n.201C= c.241C= (p.Arg81=) c.1186C= (p.Arg396=) c.1138C= (p.Arg380=) n.569C= c.178C= (p.Arg60=) c.49C= (p.Arg17=) | |
7 | g.44145561G>T | CA367398538 | GCK | c.*1187C>A (n.*1187C>A) c.*309C>A (n.*309C>A) n.415C>A c.223C>A (p.Arg75Ser) c.1192C>A (p.Arg398Ser) c.1189C>A (p.Arg397Ser) c.1252C>A (p.Arg418Ser) n.201C>A c.241C>A (p.Arg81Ser) c.1186C>A (p.Arg396Ser) c.1138C>A (p.Arg380Ser) n.569C>A c.178C>A (p.Arg60Ser) c.49C>A (p.Arg17Ser) | |
7 | g.44145562G>A | CA454863176 | GCK | c.*1186C>T (n.*1186C>T) c.*308C>T (n.*308C>T) n.414C>T c.222C>T (p.Ser74=) c.1191C>T (p.Ser397=) c.1188C>T (p.Ser396=) c.1251C>T (p.Ser417=) n.200C>T c.240C>T (p.Ser80=) c.1185C>T (p.Ser395=) c.1137C>T (p.Ser379=) n.568C>T c.177C>T (p.Ser59=) c.48C>T (p.Ser16=) | gnomAD v4 |
7 | g.44145562G>C | CA367398542 | GCK | c.*1186C>G (n.*1186C>G) c.*308C>G (n.*308C>G) n.414C>G c.222C>G (p.Ser74Arg) c.1191C>G (p.Ser397Arg) c.1188C>G (p.Ser396Arg) c.1251C>G (p.Ser417Arg) n.200C>G c.240C>G (p.Ser80Arg) c.1185C>G (p.Ser395Arg) c.1137C>G (p.Ser379Arg) n.568C>G c.177C>G (p.Ser59Arg) c.48C>G (p.Ser16Arg) | |
7 | g.44145562G>T | CA367398545 | GCK | c.*1186C>A (n.*1186C>A) c.*308C>A (n.*308C>A) n.414C>A c.222C>A (p.Ser74Arg) c.1191C>A (p.Ser397Arg) c.1188C>A (p.Ser396Arg) c.1251C>A (p.Ser417Arg) n.200C>A c.240C>A (p.Ser80Arg) c.1185C>A (p.Ser395Arg) c.1137C>A (p.Ser379Arg) n.568C>A c.177C>A (p.Ser59Arg) c.48C>A (p.Ser16Arg) | gnomAD v4 |
7 | g.44145564_44145571del | CA2695202997 | GCK | c.*1179_*1186del (n.*1179_*1186del) c.*301_*308del (n.*301_*308del) n.407_414del c.215_222del (p.Arg72ProfsTer?) c.1184_1191del (p.Arg395ProfsTer?) c.1181_1188del (p.Arg394ProfsTer?) c.1244_1251del (p.Arg415ProfsTer?) n.193_200del c.233_240del (p.Arg78ProfsTer?) c.1178_1185del (p.Arg393ProfsTer?) c.1130_1137del (p.Arg377ProfsTer?) n.561_568del c.170_177del (p.Arg57ProfsTer?) c.41_48del (p.Arg14ProfsTer?) | |
7 | g.44145563C>A | CA367398547 | GCK | c.*1185G>T (n.*1185G>T) c.*307G>T (n.*307G>T) n.413G>T c.221G>T (p.Ser74Ile) c.1190G>T (p.Ser397Ile) c.1187G>T (p.Ser396Ile) c.1250G>T (p.Ser417Ile) n.199G>T c.239G>T (p.Ser80Ile) c.1184G>T (p.Ser395Ile) c.1136G>T (p.Ser379Ile) n.567G>T c.176G>T (p.Ser59Ile) c.47G>T (p.Ser16Ile) | |
7 | g.44145563C>G | CA367398549 | GCK | c.*1185G>C (n.*1185G>C) c.*307G>C (n.*307G>C) n.413G>C c.221G>C (p.Ser74Thr) c.1190G>C (p.Ser397Thr) c.1187G>C (p.Ser396Thr) c.1250G>C (p.Ser417Thr) n.199G>C c.239G>C (p.Ser80Thr) c.1184G>C (p.Ser395Thr) c.1136G>C (p.Ser379Thr) n.567G>C c.176G>C (p.Ser59Thr) c.47G>C (p.Ser16Thr) | |
7 | g.44145563C>T | CA367398551 | GCK | c.*1185G>A (n.*1185G>A) c.*307G>A (n.*307G>A) n.413G>A c.221G>A (p.Ser74Asn) c.1190G>A (p.Ser397Asn) c.1187G>A (p.Ser396Asn) c.1250G>A (p.Ser417Asn) n.199G>A c.239G>A (p.Ser80Asn) c.1184G>A (p.Ser395Asn) c.1136G>A (p.Ser379Asn) n.567G>A c.176G>A (p.Ser59Asn) c.47G>A (p.Ser16Asn) | |
7 | g.44145566_44145567dup | CA2580615879 | GCK | c.*1184_*1185dup (n.*1184_*1185dup) c.*306_*307dup (n.*306_*307dup) n.412_413dup c.220_221dup (p.Ser74ArgfsTer7) c.1189_1190dup (p.Ser397ArgfsTer7) c.1186_1187dup (p.Ser396ArgfsTer7) c.1249_1250dup (p.Ser417ArgfsTer7) n.198_199dup c.238_239dup (p.Ser80ArgfsTer7) c.1183_1184dup (p.Ser395ArgfsTer7) c.1135_1136dup (p.Ser379ArgfsTer7) n.566_567dup c.175_176dup (p.Ser59ArgfsTer7) c.46_47dup (p.Ser16ArgfsTer7) | ClinVar gnomAD v4 |
7 | g.44145564T>A | CA157913439 | GCK | c.*1184A>T (n.*1184A>T) c.*306A>T (n.*306A>T) n.412A>T c.220A>T (p.Ser74Cys) c.1189A>T (p.Ser397Cys) c.1186A>T (p.Ser396Cys) c.1249A>T (p.Ser417Cys) n.198A>T c.238A>T (p.Ser80Cys) c.1183A>T (p.Ser395Cys) c.1135A>T (p.Ser379Cys) n.566A>T c.175A>T (p.Ser59Cys) c.46A>T (p.Ser16Cys) | dbSNP gnomAD v4 |
7 | g.44145564T>C | CA367398556 | GCK | c.*1184A>G (n.*1184A>G) c.*306A>G (n.*306A>G) n.412A>G c.220A>G (p.Ser74Gly) c.1189A>G (p.Ser397Gly) c.1186A>G (p.Ser396Gly) c.1249A>G (p.Ser417Gly) n.198A>G c.238A>G (p.Ser80Gly) c.1183A>G (p.Ser395Gly) c.1135A>G (p.Ser379Gly) n.566A>G c.175A>G (p.Ser59Gly) c.46A>G (p.Ser16Gly) | |
7 | g.44145564T>G | CA367398558 | GCK | c.*1184A>C (n.*1184A>C) c.*306A>C (n.*306A>C) n.412A>C c.220A>C (p.Ser74Arg) c.1189A>C (p.Ser397Arg) c.1186A>C (p.Ser396Arg) c.1249A>C (p.Ser417Arg) n.198A>C c.238A>C (p.Ser80Arg) c.1183A>C (p.Ser395Arg) c.1135A>C (p.Ser379Arg) n.566A>C c.175A>C (p.Ser59Arg) c.46A>C (p.Ser16Arg) | |
7 | g.44145564T= | CA1703612875 | GCK | c.*1184A= (n.*1184A=) c.*306A= (n.*306A=) n.412A= c.220A= (p.Ser74=) c.1189A= (p.Ser397=) c.1186A= (p.Ser396=) c.1249A= (p.Ser417=) n.198A= c.238A= (p.Ser80=) c.1183A= (p.Ser395=) c.1135A= (p.Ser379=) n.566A= c.175A= (p.Ser59=) c.46A= (p.Ser16=) | |
7 | g.44145565C>A | CA367398561 | GCK | c.*1183G>T (n.*1183G>T) c.*305G>T (n.*305G>T) n.411G>T c.219G>T (p.Glu73Asp) c.1188G>T (p.Glu396Asp) c.1185G>T (p.Glu395Asp) c.1248G>T (p.Glu416Asp) n.197G>T c.237G>T (p.Glu79Asp) c.1182G>T (p.Glu394Asp) c.1134G>T (p.Glu378Asp) n.565G>T c.174G>T (p.Glu58Asp) c.45G>T (p.Glu15Asp) | gnomAD v4 |
7 | g.44145565C= | CA1703612876 | GCK | c.*1183G= (n.*1183G=) c.*305G= (n.*305G=) n.411G= c.219G= (p.Glu73=) c.1188G= (p.Glu396=) c.1185G= (p.Glu395=) c.1248G= (p.Glu416=) n.197G= c.237G= (p.Glu79=) c.1182G= (p.Glu394=) c.1134G= (p.Glu378=) n.565G= c.174G= (p.Glu58=) c.45G= (p.Glu15=) | |
7 | g.44145565C>G | CA367398563 | GCK | c.*1183G>C (n.*1183G>C) c.*305G>C (n.*305G>C) n.411G>C c.219G>C (p.Glu73Asp) c.1188G>C (p.Glu396Asp) c.1185G>C (p.Glu395Asp) c.1248G>C (p.Glu416Asp) n.197G>C c.237G>C (p.Glu79Asp) c.1182G>C (p.Glu394Asp) c.1134G>C (p.Glu378Asp) n.565G>C c.174G>C (p.Glu58Asp) c.45G>C (p.Glu15Asp) | dbSNP gnomAD v4 |
7 | g.44145565C>T | CA454863180 | GCK | c.*1183G>A (n.*1183G>A) c.*305G>A (n.*305G>A) n.411G>A c.219G>A (p.Glu73=) c.1188G>A (p.Glu396=) c.1185G>A (p.Glu395=) c.1248G>A (p.Glu416=) n.197G>A c.237G>A (p.Glu79=) c.1182G>A (p.Glu394=) c.1134G>A (p.Glu378=) n.565G>A c.174G>A (p.Glu58=) c.45G>A (p.Glu15=) | gnomAD v4 |
7 | g.44145566T>A | CA367398565 | GCK | c.*1182A>T (n.*1182A>T) c.*304A>T (n.*304A>T) n.410A>T c.218A>T (p.Glu73Val) c.1187A>T (p.Glu396Val) c.1184A>T (p.Glu395Val) c.1247A>T (p.Glu416Val) n.196A>T c.236A>T (p.Glu79Val) c.1181A>T (p.Glu394Val) c.1133A>T (p.Glu378Val) n.564A>T c.173A>T (p.Glu58Val) c.44A>T (p.Glu15Val) | |
7 | g.44145566T>C | CA4239419 | GCK | c.*1182A>G (n.*1182A>G) c.*304A>G (n.*304A>G) n.410A>G c.218A>G (p.Glu73Gly) c.1187A>G (p.Glu396Gly) c.1184A>G (p.Glu395Gly) c.1247A>G (p.Glu416Gly) n.196A>G c.236A>G (p.Glu79Gly) c.1181A>G (p.Glu394Gly) c.1133A>G (p.Glu378Gly) n.564A>G c.173A>G (p.Glu58Gly) c.44A>G (p.Glu15Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.44145566T>G | CA367398568 | GCK | c.*1182A>C (n.*1182A>C) c.*304A>C (n.*304A>C) n.410A>C c.218A>C (p.Glu73Ala) c.1187A>C (p.Glu396Ala) c.1184A>C (p.Glu395Ala) c.1247A>C (p.Glu416Ala) n.196A>C c.236A>C (p.Glu79Ala) c.1181A>C (p.Glu394Ala) c.1133A>C (p.Glu378Ala) n.564A>C c.173A>C (p.Glu58Ala) c.44A>C (p.Glu15Ala) | |
7 | g.44145566T= | CA1703612877 | GCK | c.*1182A= (n.*1182A=) c.*304A= (n.*304A=) n.410A= c.218A= (p.Glu73=) c.1187A= (p.Glu396=) c.1184A= (p.Glu395=) c.1247A= (p.Glu416=) n.196A= c.236A= (p.Glu79=) c.1181A= (p.Glu394=) c.1133A= (p.Glu378=) n.564A= c.173A= (p.Glu58=) c.44A= (p.Glu15=) | |
7 | g.44145567C>A | CA367398575 | GCK | c.*1181G>T (n.*1181G>T) c.*303G>T (n.*303G>T) n.409G>T c.217G>T (p.Glu73Ter) c.1186G>T (p.Glu396Ter) c.1183G>T (p.Glu395Ter) c.1246G>T (p.Glu416Ter) n.195G>T c.235G>T (p.Glu79Ter) c.1180G>T (p.Glu394Ter) c.1132G>T (p.Glu378Ter) n.563G>T c.172G>T (p.Glu58Ter) c.43G>T (p.Glu15Ter) | ClinVar |
7 | g.44145567C>G | CA367398570 | GCK | c.*1181G>C (n.*1181G>C) c.*303G>C (n.*303G>C) n.409G>C c.217G>C (p.Glu73Gln) c.1186G>C (p.Glu396Gln) c.1183G>C (p.Glu395Gln) c.1246G>C (p.Glu416Gln) n.195G>C c.235G>C (p.Glu79Gln) c.1180G>C (p.Glu394Gln) c.1132G>C (p.Glu378Gln) n.563G>C c.172G>C (p.Glu58Gln) c.43G>C (p.Glu15Gln) | |
7 | g.44145567C>T | CA367398572 | GCK | c.*1181G>A (n.*1181G>A) c.*303G>A (n.*303G>A) n.409G>A c.217G>A (p.Glu73Lys) c.1186G>A (p.Glu396Lys) c.1183G>A (p.Glu395Lys) c.1246G>A (p.Glu416Lys) n.195G>A c.235G>A (p.Glu79Lys) c.1180G>A (p.Glu394Lys) c.1132G>A (p.Glu378Lys) n.563G>A c.172G>A (p.Glu58Lys) c.43G>A (p.Glu15Lys) | gnomAD v4 |
7 | g.44145568_44145571del | CA2682581380 | GCK | c.*1178_*1181del (n.*1178_*1181del) c.*300_*303del (n.*300_*303del) n.406_409del c.214_217del (p.Glu73AlafsTer6) c.1183_1186del (p.Glu396AlafsTer6) c.1180_1183del (p.Glu395AlafsTer6) c.1243_1246del (p.Glu416AlafsTer6) n.192_195del c.232_235del (p.Glu79AlafsTer6) c.1177_1180del (p.Glu394AlafsTer6) c.1129_1132del (p.Glu378AlafsTer6) n.560_563del c.169_172del (p.Glu58AlafsTer6) c.40_43del (p.Glu15AlafsTer6) | gnomAD v4 |
7 | g.44145568G>A | CA4239420 | GCK | c.*1180C>T (n.*1180C>T) c.*302C>T (n.*302C>T) n.408C>T c.216C>T (p.Arg72=) c.1185C>T (p.Arg395=) c.1182C>T (p.Arg394=) c.1245C>T (p.Arg415=) n.194C>T c.234C>T (p.Arg78=) c.1179C>T (p.Arg393=) c.1131C>T (p.Arg377=) n.562C>T c.171C>T (p.Arg57=) c.42C>T (p.Arg14=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.44145568G>C | CA157913459 | GCK | c.*1180C>G (n.*1180C>G) c.*302C>G (n.*302C>G) n.408C>G c.216C>G (p.Arg72=) c.1185C>G (p.Arg395=) c.1182C>G (p.Arg394=) c.1245C>G (p.Arg415=) n.194C>G c.234C>G (p.Arg78=) c.1179C>G (p.Arg393=) c.1131C>G (p.Arg377=) n.562C>G c.171C>G (p.Arg57=) c.42C>G (p.Arg14=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145568G= | CA1703612878 | GCK | c.*1180C= (n.*1180C=) c.*302C= (n.*302C=) n.408C= c.216C= (p.Arg72=) c.1185C= (p.Arg395=) c.1182C= (p.Arg394=) c.1245C= (p.Arg415=) n.194C= c.234C= (p.Arg78=) c.1179C= (p.Arg393=) c.1131C= (p.Arg377=) n.562C= c.171C= (p.Arg57=) c.42C= (p.Arg14=) | |
7 | g.44145568G>T | CA454863183 | GCK | c.*1180C>A (n.*1180C>A) c.*302C>A (n.*302C>A) n.408C>A c.216C>A (p.Arg72=) c.1185C>A (p.Arg395=) c.1182C>A (p.Arg394=) c.1245C>A (p.Arg415=) n.194C>A c.234C>A (p.Arg78=) c.1179C>A (p.Arg393=) c.1131C>A (p.Arg377=) n.562C>A c.171C>A (p.Arg57=) c.42C>A (p.Arg14=) | dbSNP gnomAD v4 |
7 | g.44145568_44145569delinsCG | CA2695203000 | GCK | c.*1179_*1180delinsCG (n.*1179_*1180delinsCG) c.*301_*302delinsCG (n.*301_*302delinsCG) n.407_408delinsCG c.215_216delinsCG (p.Arg72Pro) c.1184_1185delinsCG (p.Arg395Pro) c.1181_1182delinsCG (p.Arg394Pro) c.1244_1245delinsCG (p.Arg415Pro) n.193_194delinsCG c.233_234delinsCG (p.Arg78Pro) c.1178_1179delinsCG (p.Arg393Pro) c.1130_1131delinsCG (p.Arg377Pro) n.561_562delinsCG c.170_171delinsCG (p.Arg57Pro) c.41_42delinsCG (p.Arg14Pro) | |
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.44145569C>A | CA367398578 | GCK | c.*1179G>T (n.*1179G>T) c.*301G>T (n.*301G>T) n.407G>T c.215G>T (p.Arg72Leu) c.1184G>T (p.Arg395Leu) c.1181G>T (p.Arg394Leu) c.1244G>T (p.Arg415Leu) n.193G>T c.233G>T (p.Arg78Leu) c.1178G>T (p.Arg393Leu) c.1130G>T (p.Arg377Leu) n.561G>T c.170G>T (p.Arg57Leu) c.41G>T (p.Arg14Leu) | ClinVar dbSNP |
7 | g.44145569C= | CA1703612879 | GCK | c.*1179G= (n.*1179G=) c.*301G= (n.*301G=) n.407G= c.215G= (p.Arg72=) c.1184G= (p.Arg395=) c.1181G= (p.Arg394=) c.1244G= (p.Arg415=) n.193G= c.233G= (p.Arg78=) c.1178G= (p.Arg393=) c.1130G= (p.Arg377=) n.561G= c.170G= (p.Arg57=) c.41G= (p.Arg14=) | |
7 | g.44145569C>G | CA367398581 | GCK | c.*1179G>C (n.*1179G>C) c.*301G>C (n.*301G>C) n.407G>C c.215G>C (p.Arg72Pro) c.1184G>C (p.Arg395Pro) c.1181G>C (p.Arg394Pro) c.1244G>C (p.Arg415Pro) n.193G>C c.233G>C (p.Arg78Pro) c.1178G>C (p.Arg393Pro) c.1130G>C (p.Arg377Pro) n.561G>C c.170G>C (p.Arg57Pro) c.41G>C (p.Arg14Pro) | ClinVar |
7 | g.44145569C>T | CA367398582 | GCK | c.*1179G>A (n.*1179G>A) c.*301G>A (n.*301G>A) n.407G>A c.215G>A (p.Arg72His) c.1184G>A (p.Arg395His) c.1181G>A (p.Arg394His) c.1244G>A (p.Arg415His) n.193G>A c.233G>A (p.Arg78His) c.1178G>A (p.Arg393His) c.1130G>A (p.Arg377His) n.561G>A c.170G>A (p.Arg57His) c.41G>A (p.Arg14His) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.44145570G>A | CA367398588 | GCK | c.*1178C>T (n.*1178C>T) c.*300C>T (n.*300C>T) n.406C>T c.214C>T (p.Arg72Cys) c.1183C>T (p.Arg395Cys) c.1180C>T (p.Arg394Cys) c.1243C>T (p.Arg415Cys) n.192C>T c.232C>T (p.Arg78Cys) c.1177C>T (p.Arg393Cys) c.1129C>T (p.Arg377Cys) n.560C>T c.169C>T (p.Arg57Cys) c.40C>T (p.Arg14Cys) | ClinVar gnomAD v4 |
7 | g.44145570G>C | CA367398586 | GCK | c.*1178C>G (n.*1178C>G) c.*300C>G (n.*300C>G) n.406C>G c.214C>G (p.Arg72Gly) c.1183C>G (p.Arg395Gly) c.1180C>G (p.Arg394Gly) c.1243C>G (p.Arg415Gly) n.192C>G c.232C>G (p.Arg78Gly) c.1177C>G (p.Arg393Gly) c.1129C>G (p.Arg377Gly) n.560C>G c.169C>G (p.Arg57Gly) c.40C>G (p.Arg14Gly) | gnomAD v4 |
7 | g.44145570G= | CA1703612880 | GCK | c.*1178C= (n.*1178C=) c.*300C= (n.*300C=) n.406C= c.214C= (p.Arg72=) c.1183C= (p.Arg395=) c.1180C= (p.Arg394=) c.1243C= (p.Arg415=) n.192C= c.232C= (p.Arg78=) c.1177C= (p.Arg393=) c.1129C= (p.Arg377=) n.560C= c.169C= (p.Arg57=) c.40C= (p.Arg14=) | |
7 | g.44145570G>T | CA367398584 | GCK | c.*1178C>A (n.*1178C>A) c.*300C>A (n.*300C>A) n.406C>A c.214C>A (p.Arg72Ser) c.1183C>A (p.Arg395Ser) c.1180C>A (p.Arg394Ser) c.1243C>A (p.Arg415Ser) n.192C>A c.232C>A (p.Arg78Ser) c.1177C>A (p.Arg393Ser) c.1129C>A (p.Arg377Ser) n.560C>A c.169C>A (p.Arg57Ser) c.40C>A (p.Arg14Ser) | dbSNP gnomAD v4 |
7 | g.44145571C>A | CA367398590 | GCK | c.*1177G>T (n.*1177G>T) c.*299G>T (n.*299G>T) n.405G>T c.213G>T (p.Met71Ile) c.1182G>T (p.Met394Ile) c.1179G>T (p.Met393Ile) c.1242G>T (p.Met414Ile) n.191G>T c.231G>T (p.Met77Ile) c.1176G>T (p.Met392Ile) c.1128G>T (p.Met376Ile) n.559G>T c.168G>T (p.Met56Ile) c.39G>T (p.Met13Ile) | gnomAD v4 |
7 | g.44145571C>G | CA367398593 | GCK | c.*1177G>C (n.*1177G>C) c.*299G>C (n.*299G>C) n.405G>C c.213G>C (p.Met71Ile) c.1182G>C (p.Met394Ile) c.1179G>C (p.Met393Ile) c.1242G>C (p.Met414Ile) n.191G>C c.231G>C (p.Met77Ile) c.1176G>C (p.Met392Ile) c.1128G>C (p.Met376Ile) n.559G>C c.168G>C (p.Met56Ile) c.39G>C (p.Met13Ile) | |
7 | g.44145571C>T | CA367398595 | GCK | c.*1177G>A (n.*1177G>A) c.*299G>A (n.*299G>A) n.405G>A c.213G>A (p.Met71Ile) c.1182G>A (p.Met394Ile) c.1179G>A (p.Met393Ile) c.1242G>A (p.Met414Ile) n.191G>A c.231G>A (p.Met77Ile) c.1176G>A (p.Met392Ile) c.1128G>A (p.Met376Ile) n.559G>A c.168G>A (p.Met56Ile) c.39G>A (p.Met13Ile) | gnomAD v4 |
7 | g.44145572A= | CA1703612881 | GCK | c.*1176T= (n.*1176T=) c.*298T= (n.*298T=) n.404T= c.212T= (p.Met71=) c.1181T= (p.Met394=) c.1178T= (p.Met393=) c.1241T= (p.Met414=) n.190T= c.230T= (p.Met77=) c.1175T= (p.Met392=) c.1127T= (p.Met376=) n.558T= c.167T= (p.Met56=) c.38T= (p.Met13=) | |
7 | g.44145572A>C | CA367398598 | GCK | c.*1176T>G (n.*1176T>G) c.*298T>G (n.*298T>G) n.404T>G c.212T>G (p.Met71Arg) c.1181T>G (p.Met394Arg) c.1178T>G (p.Met393Arg) c.1241T>G (p.Met414Arg) n.190T>G c.230T>G (p.Met77Arg) c.1175T>G (p.Met392Arg) c.1127T>G (p.Met376Arg) n.558T>G c.167T>G (p.Met56Arg) c.38T>G (p.Met13Arg) | |
7 | g.44145572A>G | CA367398600 | GCK | c.*1176T>C (n.*1176T>C) c.*298T>C (n.*298T>C) n.404T>C c.212T>C (p.Met71Thr) c.1181T>C (p.Met394Thr) c.1178T>C (p.Met393Thr) c.1241T>C (p.Met414Thr) n.190T>C c.230T>C (p.Met77Thr) c.1175T>C (p.Met392Thr) c.1127T>C (p.Met376Thr) n.558T>C c.167T>C (p.Met56Thr) c.38T>C (p.Met13Thr) | ClinVar dbSNP |
7 | g.44145572A>T | CA367398603 | GCK | c.*1176T>A (n.*1176T>A) c.*298T>A (n.*298T>A) n.404T>A c.212T>A (p.Met71Lys) c.1181T>A (p.Met394Lys) c.1178T>A (p.Met393Lys) c.1241T>A (p.Met414Lys) n.190T>A c.230T>A (p.Met77Lys) c.1175T>A (p.Met392Lys) c.1127T>A (p.Met376Lys) n.558T>A c.167T>A (p.Met56Lys) c.38T>A (p.Met13Lys) | |
7 | g.44145573T>A | CA367398605 | GCK | c.*1175A>T (n.*1175A>T) c.*297A>T (n.*297A>T) n.403A>T c.211A>T (p.Met71Leu) c.1180A>T (p.Met394Leu) c.1177A>T (p.Met393Leu) c.1240A>T (p.Met414Leu) n.189A>T c.229A>T (p.Met77Leu) c.1174A>T (p.Met392Leu) c.1126A>T (p.Met376Leu) n.557A>T c.166A>T (p.Met56Leu) c.37A>T (p.Met13Leu) | |
7 | g.44145573T>C | CA367398611 | GCK | c.*1175A>G (n.*1175A>G) c.*297A>G (n.*297A>G) n.403A>G c.211A>G (p.Met71Val) c.1180A>G (p.Met394Val) c.1177A>G (p.Met393Val) c.1240A>G (p.Met414Val) n.189A>G c.229A>G (p.Met77Val) c.1174A>G (p.Met392Val) c.1126A>G (p.Met376Val) n.557A>G c.166A>G (p.Met56Val) c.37A>G (p.Met13Val) | |
7 | g.44145573T>G | CA367398608 | GCK | c.*1175A>C (n.*1175A>C) c.*297A>C (n.*297A>C) n.403A>C c.211A>C (p.Met71Leu) c.1180A>C (p.Met394Leu) c.1177A>C (p.Met393Leu) c.1240A>C (p.Met414Leu) n.189A>C c.229A>C (p.Met77Leu) c.1174A>C (p.Met392Leu) c.1126A>C (p.Met376Leu) n.557A>C c.166A>C (p.Met56Leu) c.37A>C (p.Met13Leu) | |
7 | g.44145574G>A | CA454863190 | GCK | c.*1174C>T (n.*1174C>T) c.*296C>T (n.*296C>T) n.402C>T c.210C>T (p.Arg70=) c.1179C>T (p.Arg393=) c.1176C>T (p.Arg392=) c.1239C>T (p.Arg413=) n.188C>T c.228C>T (p.Arg76=) c.1173C>T (p.Arg391=) c.1125C>T (p.Arg375=) n.556C>T c.165C>T (p.Arg55=) c.36C>T (p.Arg12=) | gnomAD v4 |
7 | g.44145574G>C | CA454863189 | GCK | c.*1174C>G (n.*1174C>G) c.*296C>G (n.*296C>G) n.402C>G c.210C>G (p.Arg70=) c.1179C>G (p.Arg393=) c.1176C>G (p.Arg392=) c.1239C>G (p.Arg413=) n.188C>G c.228C>G (p.Arg76=) c.1173C>G (p.Arg391=) c.1125C>G (p.Arg375=) n.556C>G c.165C>G (p.Arg55=) c.36C>G (p.Arg12=) | |
7 | g.44145574G>T | CA454863188 | GCK | c.*1174C>A (n.*1174C>A) c.*296C>A (n.*296C>A) n.402C>A c.210C>A (p.Arg70=) c.1179C>A (p.Arg393=) c.1176C>A (p.Arg392=) c.1239C>A (p.Arg413=) n.188C>A c.228C>A (p.Arg76=) c.1173C>A (p.Arg391=) c.1125C>A (p.Arg375=) n.556C>A c.165C>A (p.Arg55=) c.36C>A (p.Arg12=) | |
7 | g.44145575C>A | CA213733 | GCK | c.*1173G>T (n.*1173G>T) c.*295G>T (n.*295G>T) n.401G>T c.209G>T (p.Arg70Leu) c.1178G>T (p.Arg393Leu) c.1175G>T (p.Arg392Leu) c.1238G>T (p.Arg413Leu) n.187G>T c.227G>T (p.Arg76Leu) c.1172G>T (p.Arg391Leu) c.1124G>T (p.Arg375Leu) n.555G>T c.164G>T (p.Arg55Leu) c.35G>T (p.Arg12Leu) | ClinVar dbSNP gnomAD v4 |
7 | g.44145575C= | CA1703612882 | GCK | c.*1173G= (n.*1173G=) c.*295G= (n.*295G=) n.401G= c.209G= (p.Arg70=) c.1178G= (p.Arg393=) c.1175G= (p.Arg392=) c.1238G= (p.Arg413=) n.187G= c.227G= (p.Arg76=) c.1172G= (p.Arg391=) c.1124G= (p.Arg375=) n.555G= c.164G= (p.Arg55=) c.35G= (p.Arg12=) | |
7 | g.44145575C>G | CA367398617 | GCK | c.*1173G>C (n.*1173G>C) c.*295G>C (n.*295G>C) n.401G>C c.209G>C (p.Arg70Pro) c.1178G>C (p.Arg393Pro) c.1175G>C (p.Arg392Pro) c.1238G>C (p.Arg413Pro) n.187G>C c.227G>C (p.Arg76Pro) c.1172G>C (p.Arg391Pro) c.1124G>C (p.Arg375Pro) n.555G>C c.164G>C (p.Arg55Pro) c.35G>C (p.Arg12Pro) | ClinVar |
7 | g.44145575C>T | CA367398620 | GCK | c.*1173G>A (n.*1173G>A) c.*295G>A (n.*295G>A) n.401G>A c.209G>A (p.Arg70His) c.1178G>A (p.Arg393His) c.1175G>A (p.Arg392His) c.1238G>A (p.Arg413His) n.187G>A c.227G>A (p.Arg76His) c.1172G>A (p.Arg391His) c.1124G>A (p.Arg375His) n.555G>A c.164G>A (p.Arg55His) c.35G>A (p.Arg12His) | gnomAD v4 |
7 | g.44145576G>A | CA367398622 | GCK | c.*1172C>T (n.*1172C>T) c.*294C>T (n.*294C>T) n.400C>T c.208C>T (p.Arg70Cys) c.1177C>T (p.Arg393Cys) c.1174C>T (p.Arg392Cys) c.1237C>T (p.Arg413Cys) n.186C>T c.226C>T (p.Arg76Cys) c.1171C>T (p.Arg391Cys) c.1123C>T (p.Arg375Cys) n.554C>T c.163C>T (p.Arg55Cys) c.34C>T (p.Arg12Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145576G>C | CA367398625 | GCK | c.*1172C>G (n.*1172C>G) c.*294C>G (n.*294C>G) n.400C>G c.208C>G (p.Arg70Gly) c.1177C>G (p.Arg393Gly) c.1174C>G (p.Arg392Gly) c.1237C>G (p.Arg413Gly) n.186C>G c.226C>G (p.Arg76Gly) c.1171C>G (p.Arg391Gly) c.1123C>G (p.Arg375Gly) n.554C>G c.163C>G (p.Arg55Gly) c.34C>G (p.Arg12Gly) | ClinVar dbSNP |
7 | g.44145576G= | CA1703612883 | GCK | c.*1172C= (n.*1172C=) c.*294C= (n.*294C=) n.400C= c.208C= (p.Arg70=) c.1177C= (p.Arg393=) c.1174C= (p.Arg392=) c.1237C= (p.Arg413=) n.186C= c.226C= (p.Arg76=) c.1171C= (p.Arg391=) c.1123C= (p.Arg375=) n.554C= c.163C= (p.Arg55=) c.34C= (p.Arg12=) | |
7 | g.44145576G>T | CA367398628 | GCK | c.*1172C>A (n.*1172C>A) c.*294C>A (n.*294C>A) n.400C>A c.208C>A (p.Arg70Ser) c.1177C>A (p.Arg393Ser) c.1174C>A (p.Arg392Ser) c.1237C>A (p.Arg413Ser) n.186C>A c.226C>A (p.Arg76Ser) c.1171C>A (p.Arg391Ser) c.1123C>A (p.Arg375Ser) n.554C>A c.163C>A (p.Arg55Ser) c.34C>A (p.Arg12Ser) | ClinVar gnomAD v4 |
7 | g.44145577G>A | CA454863194 | GCK | c.*1171C>T (n.*1171C>T) c.*293C>T (n.*293C>T) n.399C>T c.207C>T (p.Asn69=) c.1176C>T (p.Asn392=) c.1173C>T (p.Asn391=) c.1236C>T (p.Asn412=) n.185C>T c.225C>T (p.Asn75=) c.1170C>T (p.Asn390=) c.1122C>T (p.Asn374=) n.553C>T c.162C>T (p.Asn54=) c.33C>T (p.Asn11=) | |
7 | g.44145577G>C | CA367398630 | GCK | c.*1171C>G (n.*1171C>G) c.*293C>G (n.*293C>G) n.399C>G c.207C>G (p.Asn69Lys) c.1176C>G (p.Asn392Lys) c.1173C>G (p.Asn391Lys) c.1236C>G (p.Asn412Lys) n.185C>G c.225C>G (p.Asn75Lys) c.1170C>G (p.Asn390Lys) c.1122C>G (p.Asn374Lys) n.553C>G c.162C>G (p.Asn54Lys) c.33C>G (p.Asn11Lys) | |
7 | g.44145577G= | CA1703612884 | GCK | c.*1171C= (n.*1171C=) c.*293C= (n.*293C=) n.399C= c.207C= (p.Asn69=) c.1176C= (p.Asn392=) c.1173C= (p.Asn391=) c.1236C= (p.Asn412=) n.185C= c.225C= (p.Asn75=) c.1170C= (p.Asn390=) c.1122C= (p.Asn374=) n.553C= c.162C= (p.Asn54=) c.33C= (p.Asn11=) | |
7 | g.44145577G>T | CA367398633 | GCK | c.*1171C>A (n.*1171C>A) c.*293C>A (n.*293C>A) n.399C>A c.207C>A (p.Asn69Lys) c.1176C>A (p.Asn392Lys) c.1173C>A (p.Asn391Lys) c.1236C>A (p.Asn412Lys) n.185C>A c.225C>A (p.Asn75Lys) c.1170C>A (p.Asn390Lys) c.1122C>A (p.Asn374Lys) n.553C>A c.162C>A (p.Asn54Lys) c.33C>A (p.Asn11Lys) | ClinVar dbSNP gnomAD v4 |
7 | g.44145577_44145578delinsGT | CA1703612885 | GCK | c.*1170_*1171delinsAC (n.*1170_*1171delinsAC) c.*292_*293delinsAC (n.*292_*293delinsAC) n.398_399delinsAC c.206_207delinsAC (p.Asn69=) c.1175_1176delinsAC (p.Asn392=) c.1172_1173delinsAC (p.Asn391=) c.1235_1236delinsAC (p.Asn412=) n.184_185delinsAC c.224_225delinsAC (p.Asn75=) c.1169_1170delinsAC (p.Asn390=) c.1121_1122delinsAC (p.Asn374=) n.552_553delinsAC c.161_162delinsAC (p.Asn54=) c.32_33delinsAC (p.Asn11=) | |
7 | g.44145578T>A | CA367398635 | GCK | c.*1170A>T (n.*1170A>T) c.*292A>T (n.*292A>T) n.398A>T c.206A>T (p.Asn69Ile) c.1175A>T (p.Asn392Ile) c.1172A>T (p.Asn391Ile) c.1235A>T (p.Asn412Ile) n.184A>T c.224A>T (p.Asn75Ile) c.1169A>T (p.Asn390Ile) c.1121A>T (p.Asn374Ile) n.552A>T c.161A>T (p.Asn54Ile) c.32A>T (p.Asn11Ile) | |
7 | g.44145578T>C | CA367398637 | GCK | c.*1170A>G (n.*1170A>G) c.*292A>G (n.*292A>G) n.398A>G c.206A>G (p.Asn69Ser) c.1175A>G (p.Asn392Ser) c.1172A>G (p.Asn391Ser) c.1235A>G (p.Asn412Ser) n.184A>G c.224A>G (p.Asn75Ser) c.1169A>G (p.Asn390Ser) c.1121A>G (p.Asn374Ser) n.552A>G c.161A>G (p.Asn54Ser) c.32A>G (p.Asn11Ser) | |
7 | g.44145578T>G | CA367398639 | GCK | c.*1170A>C (n.*1170A>C) c.*292A>C (n.*292A>C) n.398A>C c.206A>C (p.Asn69Thr) c.1175A>C (p.Asn392Thr) c.1172A>C (p.Asn391Thr) c.1235A>C (p.Asn412Thr) n.184A>C c.224A>C (p.Asn75Thr) c.1169A>C (p.Asn390Thr) c.1121A>C (p.Asn374Thr) n.552A>C c.161A>C (p.Asn54Thr) c.32A>C (p.Asn11Thr) | |
7 | g.44145579del | CA1703612886 | GCK | c.*1170del (n.*1170del) c.*292del (n.*292del) n.398del c.206del (p.Asn69ThrfsTer11) c.1175del (p.Asn392ThrfsTer11) c.1172del (p.Asn391ThrfsTer11) c.1235del (p.Asn412ThrfsTer11) n.184del c.224del (p.Asn75ThrfsTer11) c.1169del (p.Asn390ThrfsTer11) c.1121del (p.Asn374ThrfsTer11) n.552del c.161del (p.Asn54ThrfsTer11) c.32del (p.Asn11ThrfsTer11) | dbSNP |
7 | g.44145579T>A | CA367398642 | GCK | c.*1169A>T (n.*1169A>T) c.*291A>T (n.*291A>T) n.397A>T c.205A>T (p.Asn69Tyr) c.1174A>T (p.Asn392Tyr) c.1171A>T (p.Asn391Tyr) c.1234A>T (p.Asn412Tyr) n.183A>T c.223A>T (p.Asn75Tyr) c.1168A>T (p.Asn390Tyr) c.1120A>T (p.Asn374Tyr) n.551A>T c.160A>T (p.Asn54Tyr) c.31A>T (p.Asn11Tyr) | |
7 | g.44145579T>C | CA367398645 | GCK | c.*1169A>G (n.*1169A>G) c.*291A>G (n.*291A>G) n.397A>G c.205A>G (p.Asn69Asp) c.1174A>G (p.Asn392Asp) c.1171A>G (p.Asn391Asp) c.1234A>G (p.Asn412Asp) n.183A>G c.223A>G (p.Asn75Asp) c.1168A>G (p.Asn390Asp) c.1120A>G (p.Asn374Asp) n.551A>G c.160A>G (p.Asn54Asp) c.31A>G (p.Asn11Asp) | |
7 | g.44145579T>G | CA367398643 | GCK | c.*1169A>C (n.*1169A>C) c.*291A>C (n.*291A>C) n.397A>C c.205A>C (p.Asn69His) c.1174A>C (p.Asn392His) c.1171A>C (p.Asn391His) c.1234A>C (p.Asn412His) n.183A>C c.223A>C (p.Asn75His) c.1168A>C (p.Asn390His) c.1120A>C (p.Asn374His) n.551A>C c.160A>C (p.Asn54His) c.31A>C (p.Asn11His) | |
7 | g.44145582_44145584del | CA2580612099 | GCK | c.*1167_*1169del (n.*1167_*1169del) c.*289_*291del (n.*289_*291del) n.395_397del c.203_205del (p.Ile68del) c.1172_1174del (p.Ile391del) c.1169_1171del (p.Ile390del) c.1232_1234del (p.Ile411del) n.181_183del c.221_223del (p.Ile74del) c.1166_1168del (p.Ile389del) c.1118_1120del (p.Ile373del) n.549_551del c.158_160del (p.Ile53del) c.29_31del (p.Ile10del) | ClinVar dbSNP gnomAD v4 |
7 | g.44145580G>A | CA454863198 | GCK | c.*1168C>T (n.*1168C>T) c.*290C>T (n.*290C>T) n.396C>T c.204C>T (p.Ile68=) c.1173C>T (p.Ile391=) c.1170C>T (p.Ile390=) c.1233C>T (p.Ile411=) n.182C>T c.222C>T (p.Ile74=) c.1167C>T (p.Ile389=) c.1119C>T (p.Ile373=) n.550C>T c.159C>T (p.Ile53=) c.30C>T (p.Ile10=) | |
7 | g.44145580G>C | CA367398648 | GCK | c.*1168C>G (n.*1168C>G) c.*290C>G (n.*290C>G) n.396C>G c.204C>G (p.Ile68Met) c.1173C>G (p.Ile391Met) c.1170C>G (p.Ile390Met) c.1233C>G (p.Ile411Met) n.182C>G c.222C>G (p.Ile74Met) c.1167C>G (p.Ile389Met) c.1119C>G (p.Ile373Met) n.550C>G c.159C>G (p.Ile53Met) c.30C>G (p.Ile10Met) | |
7 | g.44145580G>T | CA454863199 | GCK | c.*1168C>A (n.*1168C>A) c.*290C>A (n.*290C>A) n.396C>A c.204C>A (p.Ile68=) c.1173C>A (p.Ile391=) c.1170C>A (p.Ile390=) c.1233C>A (p.Ile411=) n.182C>A c.222C>A (p.Ile74=) c.1167C>A (p.Ile389=) c.1119C>A (p.Ile373=) n.550C>A c.159C>A (p.Ile53=) c.30C>A (p.Ile10=) | gnomAD v4 |
7 | g.44145581del | CA2580610955 | GCK | c.*1167del (n.*1167del) c.*289del (n.*289del) n.395del c.203del (p.Ile68ThrfsTer12) c.1172del (p.Ile391ThrfsTer12) c.1169del (p.Ile390ThrfsTer12) c.1232del (p.Ile411ThrfsTer12) n.181del c.221del (p.Ile74ThrfsTer12) c.1166del (p.Ile389ThrfsTer12) c.1118del (p.Ile373ThrfsTer12) n.549del c.158del (p.Ile53ThrfsTer12) c.29del (p.Ile10ThrfsTer12) | ClinVar |
7 | g.44145581A= | CA1703612887 | GCK | c.*1167T= (n.*1167T=) c.*289T= (n.*289T=) n.395T= c.203T= (p.Ile68=) c.1172T= (p.Ile391=) c.1169T= (p.Ile390=) c.1232T= (p.Ile411=) n.181T= c.221T= (p.Ile74=) c.1166T= (p.Ile389=) c.1118T= (p.Ile373=) n.549T= c.158T= (p.Ile53=) c.29T= (p.Ile10=) | |
7 | g.44145581A>C | CA367398649 | GCK | c.*1167T>G (n.*1167T>G) c.*289T>G (n.*289T>G) n.395T>G c.203T>G (p.Ile68Ser) c.1172T>G (p.Ile391Ser) c.1169T>G (p.Ile390Ser) c.1232T>G (p.Ile411Ser) n.181T>G c.221T>G (p.Ile74Ser) c.1166T>G (p.Ile389Ser) c.1118T>G (p.Ile373Ser) n.549T>G c.158T>G (p.Ile53Ser) c.29T>G (p.Ile10Ser) | |
7 | g.44145581A>G | CA213731 | GCK | c.*1167T>C (n.*1167T>C) c.*289T>C (n.*289T>C) n.395T>C c.203T>C (p.Ile68Thr) c.1172T>C (p.Ile391Thr) c.1169T>C (p.Ile390Thr) c.1232T>C (p.Ile411Thr) n.181T>C c.221T>C (p.Ile74Thr) c.1166T>C (p.Ile389Thr) c.1118T>C (p.Ile373Thr) n.549T>C c.158T>C (p.Ile53Thr) c.29T>C (p.Ile10Thr) | ClinVar dbSNP |
7 | g.44145581A>T | CA213729 | GCK | c.*1167T>A (n.*1167T>A) c.*289T>A (n.*289T>A) n.395T>A c.203T>A (p.Ile68Asn) c.1172T>A (p.Ile391Asn) c.1169T>A (p.Ile390Asn) c.1232T>A (p.Ile411Asn) n.181T>A c.221T>A (p.Ile74Asn) c.1166T>A (p.Ile389Asn) c.1118T>A (p.Ile373Asn) n.549T>A c.158T>A (p.Ile53Asn) c.29T>A (p.Ile10Asn) | ClinVar dbSNP |
7 | g.44145582T>A | CA367398650 | GCK | c.*1166A>T (n.*1166A>T) c.*288A>T (n.*288A>T) n.394A>T c.202A>T (p.Ile68Phe) c.1171A>T (p.Ile391Phe) c.1168A>T (p.Ile390Phe) c.1231A>T (p.Ile411Phe) n.180A>T c.220A>T (p.Ile74Phe) c.1165A>T (p.Ile389Phe) c.1117A>T (p.Ile373Phe) n.548A>T c.157A>T (p.Ile53Phe) c.28A>T (p.Ile10Phe) | |
7 | g.44145582T>C | CA367398651 | GCK | c.*1166A>G (n.*1166A>G) c.*288A>G (n.*288A>G) n.394A>G c.202A>G (p.Ile68Val) c.1171A>G (p.Ile391Val) c.1168A>G (p.Ile390Val) c.1231A>G (p.Ile411Val) n.180A>G c.220A>G (p.Ile74Val) c.1165A>G (p.Ile389Val) c.1117A>G (p.Ile373Val) n.548A>G c.157A>G (p.Ile53Val) c.28A>G (p.Ile10Val) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.44145582T>G | CA367398654 | GCK | c.*1166A>C (n.*1166A>C) c.*288A>C (n.*288A>C) n.394A>C c.202A>C (p.Ile68Leu) c.1171A>C (p.Ile391Leu) c.1168A>C (p.Ile390Leu) c.1231A>C (p.Ile411Leu) n.180A>C c.220A>C (p.Ile74Leu) c.1165A>C (p.Ile389Leu) c.1117A>C (p.Ile373Leu) n.548A>C c.157A>C (p.Ile53Leu) c.28A>C (p.Ile10Leu) | |
7 | g.44145582T= | CA1703612888 | GCK | c.*1166A= (n.*1166A=) c.*288A= (n.*288A=) n.394A= c.202A= (p.Ile68=) c.1171A= (p.Ile391=) c.1168A= (p.Ile390=) c.1231A= (p.Ile411=) n.180A= c.220A= (p.Ile74=) c.1165A= (p.Ile389=) c.1117A= (p.Ile373=) n.548A= c.157A= (p.Ile53=) c.28A= (p.Ile10=) | |
7 | g.44145583G>A | CA454863202 | GCK | c.*1165C>T (n.*1165C>T) c.*287C>T (n.*287C>T) n.393C>T c.201C>T (p.Val67=) c.1170C>T (p.Val390=) c.1167C>T (p.Val389=) c.1230C>T (p.Val410=) n.179C>T c.219C>T (p.Val73=) c.1164C>T (p.Val388=) c.1116C>T (p.Val372=) n.547C>T c.156C>T (p.Val52=) c.27C>T (p.Val9=) | gnomAD v4 |
7 | g.44145583G>C | CA454863203 | GCK | c.*1165C>G (n.*1165C>G) c.*287C>G (n.*287C>G) n.393C>G c.201C>G (p.Val67=) c.1170C>G (p.Val390=) c.1167C>G (p.Val389=) c.1230C>G (p.Val410=) n.179C>G c.219C>G (p.Val73=) c.1164C>G (p.Val388=) c.1116C>G (p.Val372=) n.547C>G c.156C>G (p.Val52=) c.27C>G (p.Val9=) | |
7 | g.44145583G>T | CA454863204 | GCK | c.*1165C>A (n.*1165C>A) c.*287C>A (n.*287C>A) n.393C>A c.201C>A (p.Val67=) c.1170C>A (p.Val390=) c.1167C>A (p.Val389=) c.1230C>A (p.Val410=) n.179C>A c.219C>A (p.Val73=) c.1164C>A (p.Val388=) c.1116C>A (p.Val372=) n.547C>A c.156C>A (p.Val52=) c.27C>A (p.Val9=) | |
7 | g.44145584A= | CA1703612889 | GCK | c.*1164T= (n.*1164T=) c.*286T= (n.*286T=) n.392T= c.200T= (p.Val67=) c.1169T= (p.Val390=) c.1166T= (p.Val389=) c.1229T= (p.Val410=) n.178T= c.218T= (p.Val73=) c.1163T= (p.Val388=) c.1115T= (p.Val372=) n.546T= c.155T= (p.Val52=) c.26T= (p.Val9=) | |
7 | g.44145584A>C | CA367398655 | GCK | c.*1164T>G (n.*1164T>G) c.*286T>G (n.*286T>G) n.392T>G c.200T>G (p.Val67Gly) c.1169T>G (p.Val390Gly) c.1166T>G (p.Val389Gly) c.1229T>G (p.Val410Gly) n.178T>G c.218T>G (p.Val73Gly) c.1163T>G (p.Val388Gly) c.1115T>G (p.Val372Gly) n.546T>G c.155T>G (p.Val52Gly) c.26T>G (p.Val9Gly) | |
7 | g.44145584A>G | CA367398657 | GCK | c.*1164T>C (n.*1164T>C) c.*286T>C (n.*286T>C) n.392T>C c.200T>C (p.Val67Ala) c.1169T>C (p.Val390Ala) c.1166T>C (p.Val389Ala) c.1229T>C (p.Val410Ala) n.178T>C c.218T>C (p.Val73Ala) c.1163T>C (p.Val388Ala) c.1115T>C (p.Val372Ala) n.546T>C c.155T>C (p.Val52Ala) c.26T>C (p.Val9Ala) | ClinVar |
7 | g.44145584A>T | CA367398660 | GCK | c.*1164T>A (n.*1164T>A) c.*286T>A (n.*286T>A) n.392T>A c.200T>A (p.Val67Asp) c.1169T>A (p.Val390Asp) c.1166T>A (p.Val389Asp) c.1229T>A (p.Val410Asp) n.178T>A c.218T>A (p.Val73Asp) c.1163T>A (p.Val388Asp) c.1115T>A (p.Val372Asp) n.546T>A c.155T>A (p.Val52Asp) c.26T>A (p.Val9Asp) | dbSNP |
7 | g.44145585del | CA2695203008 | GCK | c.*1163del (n.*1163del) c.*285del (n.*285del) n.391del c.199del (p.Val67SerfsTer13) c.1168del (p.Val390SerfsTer13) c.1165del (p.Val389SerfsTer13) c.1228del (p.Val410SerfsTer13) n.177del c.217del (p.Val73SerfsTer13) c.1162del (p.Val388SerfsTer13) c.1114del (p.Val372SerfsTer13) n.545del c.154del (p.Val52SerfsTer13) c.25del (p.Val9SerfsTer13) | |
7 | g.44145585C>A | CA367398662 | GCK | c.*1163G>T (n.*1163G>T) c.*285G>T (n.*285G>T) n.391G>T c.199G>T (p.Val67Phe) c.1168G>T (p.Val390Phe) c.1165G>T (p.Val389Phe) c.1228G>T (p.Val410Phe) n.177G>T c.217G>T (p.Val73Phe) c.1162G>T (p.Val388Phe) c.1114G>T (p.Val372Phe) n.545G>T c.154G>T (p.Val52Phe) c.25G>T (p.Val9Phe) | gnomAD v4 |
7 | g.44145585C= | CA1703612890 | GCK | c.*1163G= (n.*1163G=) c.*285G= (n.*285G=) n.391G= c.199G= (p.Val67=) c.1168G= (p.Val390=) c.1165G= (p.Val389=) c.1228G= (p.Val410=) n.177G= c.217G= (p.Val73=) c.1162G= (p.Val388=) c.1114G= (p.Val372=) n.545G= c.154G= (p.Val52=) c.25G= (p.Val9=) | |
7 | g.44145585C>G | CA367398665 | GCK | c.*1163G>C (n.*1163G>C) c.*285G>C (n.*285G>C) n.391G>C c.199G>C (p.Val67Leu) c.1168G>C (p.Val390Leu) c.1165G>C (p.Val389Leu) c.1228G>C (p.Val410Leu) n.177G>C c.217G>C (p.Val73Leu) c.1162G>C (p.Val388Leu) c.1114G>C (p.Val372Leu) n.545G>C c.154G>C (p.Val52Leu) c.25G>C (p.Val9Leu) | ClinVar dbSNP |
7 | g.44145585C>T | CA367398667 | GCK | c.*1163G>A (n.*1163G>A) c.*285G>A (n.*285G>A) n.391G>A c.199G>A (p.Val67Ile) c.1168G>A (p.Val390Ile) c.1165G>A (p.Val389Ile) c.1228G>A (p.Val410Ile) n.177G>A c.217G>A (p.Val73Ile) c.1162G>A (p.Val388Ile) c.1114G>A (p.Val372Ile) n.545G>A c.154G>A (p.Val52Ile) c.25G>A (p.Val9Ile) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145586G>A | CA454863206 | GCK | c.*1162C>T (n.*1162C>T) c.*284C>T (n.*284C>T) n.390C>T c.198C>T (p.Gly66=) c.1167C>T (p.Gly389=) c.1164C>T (p.Gly388=) c.1227C>T (p.Gly409=) n.176C>T c.216C>T (p.Gly72=) c.1161C>T (p.Gly387=) c.1113C>T (p.Gly371=) n.544C>T c.153C>T (p.Gly51=) c.24C>T (p.Gly8=) | |
7 | g.44145586G>C | CA454863207 | GCK | c.*1162C>G (n.*1162C>G) c.*284C>G (n.*284C>G) n.390C>G c.198C>G (p.Gly66=) c.1167C>G (p.Gly389=) c.1164C>G (p.Gly388=) c.1227C>G (p.Gly409=) n.176C>G c.216C>G (p.Gly72=) c.1161C>G (p.Gly387=) c.1113C>G (p.Gly371=) n.544C>G c.153C>G (p.Gly51=) c.24C>G (p.Gly8=) | gnomAD v4 |
7 | g.44145586G= | CA1703612891 | GCK | c.*1162C= (n.*1162C=) c.*284C= (n.*284C=) n.390C= c.198C= (p.Gly66=) c.1167C= (p.Gly389=) c.1164C= (p.Gly388=) c.1227C= (p.Gly409=) n.176C= c.216C= (p.Gly72=) c.1161C= (p.Gly387=) c.1113C= (p.Gly371=) n.544C= c.153C= (p.Gly51=) c.24C= (p.Gly8=) | |
7 | g.44145586G>T | CA454863208 | GCK | c.*1162C>A (n.*1162C>A) c.*284C>A (n.*284C>A) n.390C>A c.198C>A (p.Gly66=) c.1167C>A (p.Gly389=) c.1164C>A (p.Gly388=) c.1227C>A (p.Gly409=) n.176C>A c.216C>A (p.Gly72=) c.1161C>A (p.Gly387=) c.1113C>A (p.Gly371=) n.544C>A c.153C>A (p.Gly51=) c.24C>A (p.Gly8=) | gnomAD v4 |
7 | g.44145587C>A | CA367398674 | GCK | c.*1161G>T (n.*1161G>T) c.*283G>T (n.*283G>T) n.389G>T c.197G>T (p.Gly66Val) c.1166G>T (p.Gly389Val) c.1163G>T (p.Gly388Val) c.1226G>T (p.Gly409Val) n.175G>T c.215G>T (p.Gly72Val) c.1160G>T (p.Gly387Val) c.1112G>T (p.Gly371Val) n.543G>T c.152G>T (p.Gly51Val) c.23G>T (p.Gly8Val) | gnomAD v4 |
7 | g.44145587C= | CA1703612892 | GCK | c.*1161G= (n.*1161G=) c.*283G= (n.*283G=) n.389G= c.197G= (p.Gly66=) c.1166G= (p.Gly389=) c.1163G= (p.Gly388=) c.1226G= (p.Gly409=) n.175G= c.215G= (p.Gly72=) c.1160G= (p.Gly387=) c.1112G= (p.Gly371=) n.543G= c.152G= (p.Gly51=) c.23G= (p.Gly8=) | |
7 | g.44145587C>G | CA367398673 | GCK | c.*1161G>C (n.*1161G>C) c.*283G>C (n.*283G>C) n.389G>C c.197G>C (p.Gly66Ala) c.1166G>C (p.Gly389Ala) c.1163G>C (p.Gly388Ala) c.1226G>C (p.Gly409Ala) n.175G>C c.215G>C (p.Gly72Ala) c.1160G>C (p.Gly387Ala) c.1112G>C (p.Gly371Ala) n.543G>C c.152G>C (p.Gly51Ala) c.23G>C (p.Gly8Ala) | gnomAD v4 |
7 | g.44145587C>T | CA367398670 | GCK | c.*1161G>A (n.*1161G>A) c.*283G>A (n.*283G>A) n.389G>A c.197G>A (p.Gly66Asp) c.1166G>A (p.Gly389Asp) c.1163G>A (p.Gly388Asp) c.1226G>A (p.Gly409Asp) n.175G>A c.215G>A (p.Gly72Asp) c.1160G>A (p.Gly387Asp) c.1112G>A (p.Gly371Asp) n.543G>A c.152G>A (p.Gly51Asp) c.23G>A (p.Gly8Asp) | ClinVar dbSNP |
7 | g.44145589dup | CA10603030 | GCK | c.*1161dup (n.*1161dup) c.*283dup (n.*283dup) n.389dup c.197dup (p.Val67ArgfsTer?) c.1166dup (p.Val390ArgfsTer?) c.1163dup (p.Val389ArgfsTer?) c.1226dup (p.Val410ArgfsTer?) n.175dup c.215dup (p.Val73ArgfsTer?) c.1160dup (p.Val388ArgfsTer?) c.1112dup (p.Val372ArgfsTer?) n.543dup c.152dup (p.Val52ArgfsTer?) c.23dup (p.Val9ArgfsTer?) | ClinVar dbSNP |
7 | g.44145588C>A | CA367398677 | GCK | c.*1160G>T (n.*1160G>T) c.*282G>T (n.*282G>T) n.388G>T c.196G>T (p.Gly66Cys) c.1165G>T (p.Gly389Cys) c.1162G>T (p.Gly388Cys) c.1225G>T (p.Gly409Cys) n.174G>T c.214G>T (p.Gly72Cys) c.1159G>T (p.Gly387Cys) c.1111G>T (p.Gly371Cys) n.542G>T c.151G>T (p.Gly51Cys) c.22G>T (p.Gly8Cys) | |
7 | g.44145588C>G | CA367398680 | GCK | c.*1160G>C (n.*1160G>C) c.*282G>C (n.*282G>C) n.388G>C c.196G>C (p.Gly66Arg) c.1165G>C (p.Gly389Arg) c.1162G>C (p.Gly388Arg) c.1225G>C (p.Gly409Arg) n.174G>C c.214G>C (p.Gly72Arg) c.1159G>C (p.Gly387Arg) c.1111G>C (p.Gly371Arg) n.542G>C c.151G>C (p.Gly51Arg) c.22G>C (p.Gly8Arg) | |
7 | g.44145588C>T | CA367398683 | GCK | c.*1160G>A (n.*1160G>A) c.*282G>A (n.*282G>A) n.388G>A c.196G>A (p.Gly66Ser) c.1165G>A (p.Gly389Ser) c.1162G>A (p.Gly388Ser) c.1225G>A (p.Gly409Ser) n.174G>A c.214G>A (p.Gly72Ser) c.1159G>A (p.Gly387Ser) c.1111G>A (p.Gly371Ser) n.542G>A c.151G>A (p.Gly51Ser) c.22G>A (p.Gly8Ser) | |
7 | g.44145589C>A | CA454863212 | GCK | c.*1159G>T (n.*1159G>T) c.*281G>T (n.*281G>T) n.387G>T c.195G>T (p.Ala65=) c.1164G>T (p.Ala388=) c.1161G>T (p.Ala387=) c.1224G>T (p.Ala408=) n.173G>T c.213G>T (p.Ala71=) c.1158G>T (p.Ala386=) c.1110G>T (p.Ala370=) n.541G>T c.150G>T (p.Ala50=) c.21G>T (p.Ala7=) | dbSNP gnomAD v4 |
7 | g.44145589C= | CA1703612893 | GCK | c.*1159G= (n.*1159G=) c.*281G= (n.*281G=) n.387G= c.195G= (p.Ala65=) c.1164G= (p.Ala388=) c.1161G= (p.Ala387=) c.1224G= (p.Ala408=) n.173G= c.213G= (p.Ala71=) c.1158G= (p.Ala386=) c.1110G= (p.Ala370=) n.541G= c.150G= (p.Ala50=) c.21G= (p.Ala7=) | |
7 | g.44145589C>G | CA454863213 | GCK | c.*1159G>C (n.*1159G>C) c.*281G>C (n.*281G>C) n.387G>C c.195G>C (p.Ala65=) c.1164G>C (p.Ala388=) c.1161G>C (p.Ala387=) c.1224G>C (p.Ala408=) n.173G>C c.213G>C (p.Ala71=) c.1158G>C (p.Ala386=) c.1110G>C (p.Ala370=) n.541G>C c.150G>C (p.Ala50=) c.21G>C (p.Ala7=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.44145589C>T | CA4239421 | GCK | c.*1159G>A (n.*1159G>A) c.*281G>A (n.*281G>A) n.387G>A c.195G>A (p.Ala65=) c.1164G>A (p.Ala388=) c.1161G>A (p.Ala387=) c.1224G>A (p.Ala408=) n.173G>A c.213G>A (p.Ala71=) c.1158G>A (p.Ala386=) c.1110G>A (p.Ala370=) n.541G>A c.150G>A (p.Ala50=) c.21G>A (p.Ala7=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
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) | 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 |