Allele Registry

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.44145501G>A	CA367398205	GCK	c.1247C>T (n.1247C>T) c.369C>T (n.369C>T) n.475C>T c.283C>T (p.Pro95Ser) c.1252C>T (p.Pro418Ser) c.1249C>T (p.Pro417Ser) c.1312C>T (p.Pro438Ser) n.261C>T c.301C>T (p.Pro101Ser) c.1246C>T (p.Pro416Ser) c.1198C>T (p.Pro400Ser) n.629C>T c.238C>T (p.Pro80Ser) c.109C>T (p.Pro37Ser)
7	g.44145501G>C	CA367398207	GCK	c.1247C>G (n.1247C>G) c.369C>G (n.369C>G) n.475C>G c.283C>G (p.Pro95Ala) c.1252C>G (p.Pro418Ala) c.1249C>G (p.Pro417Ala) c.1312C>G (p.Pro438Ala) n.261C>G c.301C>G (p.Pro101Ala) c.1246C>G (p.Pro416Ala) c.1198C>G (p.Pro400Ala) n.629C>G c.238C>G (p.Pro80Ala) c.109C>G (p.Pro37Ala)
7	g.44145501G>T	CA367398208	GCK	c.1247C>A (n.1247C>A) c.369C>A (n.369C>A) n.475C>A c.283C>A (p.Pro95Thr) c.1252C>A (p.Pro418Thr) c.1249C>A (p.Pro417Thr) c.1312C>A (p.Pro438Thr) n.261C>A c.301C>A (p.Pro101Thr) c.1246C>A (p.Pro416Thr) c.1198C>A (p.Pro400Thr) n.629C>A c.238C>A (p.Pro80Thr) c.109C>A (p.Pro37Thr)	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

Number of alleles fetched