| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44145618_44145640del | CA2695203016 | GCK | c.*1113_*1135del (n.*1113_*1135del) c.*235_*257del (n.*235_*257del) n.341_363del c.149_171del (p.Glu50AlafsTer?) c.1118_1140del (p.Glu373AlafsTer?) c.1115_1137del (p.Glu372AlafsTer?) c.1178_1200del (p.Glu393AlafsTer?) n.127_149del c.167_189del (p.Glu56AlafsTer?) c.1112_1134del (p.Glu371AlafsTer?) c.1064_1086del (p.Glu355AlafsTer?) n.495_517del c.104_126del (p.Glu35AlafsTer?) c.-26_-4del (n.-26_-4del) | |
| 7 | g.44145634_44145654del | CA2695203042 | GCK | c.*1095_*1115del (n.*1095_*1115del) c.*217_*237del (n.*217_*237del) n.323_343del c.131_151del (p.Ile44_Glu50del) c.1100_1120del (p.Ile367_Glu373del) c.1097_1117del (p.Ile366_Glu372del) c.1160_1180del (p.Ile387_Glu393del) n.109_129del c.149_169del (p.Ile50_Glu56del) c.1094_1114del (p.Ile365_Glu371del) c.1046_1066del (p.Ile349_Glu355del) n.477_497del c.86_106del (p.Ile29_Glu35del) c.-44_-24del (n.-44_-24del) | |
| 7 | g.44145641_44145661del | CA2695203043 | GCK | c.*1093_*1113del (n.*1093_*1113del) c.*215_*235del (n.*215_*235del) n.321_341del c.129_149del (p.Asp43_Cys49del) c.1098_1118del (p.Asp366_Cys372del) c.1095_1115del (p.Asp365_Cys371del) c.1158_1178del (p.Asp386_Cys392del) n.107_127del c.147_167del (p.Asp49_Cys55del) c.1092_1112del (p.Asp364_Cys370del) c.1044_1064del (p.Asp348_Cys354del) n.475_495del c.84_104del (p.Asp28_Cys34del) c.-46_-26del (n.-46_-26del) | |
| 7 | g.44145637_44145638del | CA2695203044 | GCK | c.*1111_*1112del (n.*1111_*1112del) c.*233_*234del (n.*233_*234del) n.339_340del c.147_148del (p.Cys49Ter) c.1116_1117del (p.Cys372Ter) c.1113_1114del (p.Cys371Ter) c.1176_1177del (p.Cys392Ter) n.125_126del c.165_166del (p.Cys55Ter) c.1110_1111del (p.Cys370Ter) c.1062_1063del (p.Cys354Ter) n.493_494del c.102_103del (p.Cys34Ter) c.-28_-27del (n.-28_-27del) | |
| 7 | g.44145639_44145644dup | CA645372115 | GCK | c.*1107_*1112dup (n.*1107_*1112dup) c.*229_*234dup (n.*229_*234dup) n.335_340dup c.143_148dup (p.Cys49_Glu50insAlaCys) c.1112_1117dup (p.Cys372_Glu373insAlaCys) c.1109_1114dup (p.Cys371_Glu372insAlaCys) c.1172_1177dup (p.Cys392_Glu393insAlaCys) n.121_126dup c.161_166dup (p.Cys55_Glu56insAlaCys) c.1106_1111dup (p.Cys370_Glu371insAlaCys) c.1058_1063dup (p.Cys354_Glu355insAlaCys) n.489_494dup c.98_103dup (p.Cys34_Glu35insAlaCys) c.-32_-27dup (n.-32_-27dup) | |
| 7 | g.44145638del | CA2695203045 | GCK | c.*1110del (n.*1110del) c.*232del (n.*232del) n.338del c.146del (p.Cys49SerfsTer?) c.1115del (p.Cys372SerfsTer?) c.1112del (p.Cys371SerfsTer?) c.1175del (p.Cys392SerfsTer?) n.124del c.164del (p.Cys55SerfsTer?) c.1109del (p.Cys370SerfsTer?) c.1061del (p.Cys354SerfsTer?) n.492del c.101del (p.Cys34SerfsTer?) c.-29del (n.-29del) | |
| 7 | g.44145638C>A | CA152950 | GCK | c.*1110G>T (n.*1110G>T) c.*232G>T (n.*232G>T) n.338G>T c.146G>T (p.Cys49Phe) c.1115G>T (p.Cys372Phe) c.1112G>T (p.Cys371Phe) c.1175G>T (p.Cys392Phe) n.124G>T c.164G>T (p.Cys55Phe) c.1109G>T (p.Cys370Phe) c.1061G>T (p.Cys354Phe) n.492G>T c.101G>T (p.Cys34Phe) c.-29G>T (n.-29G>T) | ClinVar dbSNP |
| 7 | g.44145638C= | CA1703612935 | GCK | c.*1110G= (n.*1110G=) c.*232G= (n.*232G=) n.338G= c.146G= (p.Cys49=) c.1115G= (p.Cys372=) c.1112G= (p.Cys371=) c.1175G= (p.Cys392=) n.124G= c.164G= (p.Cys55=) c.1109G= (p.Cys370=) c.1061G= (p.Cys354=) n.492G= c.101G= (p.Cys34=) c.-29G= (n.-29G=) | |
| 7 | g.44145638C>G | CA367398933 | GCK | c.*1110G>C (n.*1110G>C) c.*232G>C (n.*232G>C) n.338G>C c.146G>C (p.Cys49Ser) c.1115G>C (p.Cys372Ser) c.1112G>C (p.Cys371Ser) c.1175G>C (p.Cys392Ser) n.124G>C c.164G>C (p.Cys55Ser) c.1109G>C (p.Cys370Ser) c.1061G>C (p.Cys354Ser) n.492G>C c.101G>C (p.Cys34Ser) c.-29G>C (n.-29G>C) | |
| 7 | g.44145638C>T | CA367398935 | GCK | c.*1110G>A (n.*1110G>A) c.*232G>A (n.*232G>A) n.338G>A c.146G>A (p.Cys49Tyr) c.1115G>A (p.Cys372Tyr) c.1112G>A (p.Cys371Tyr) c.1175G>A (p.Cys392Tyr) n.124G>A c.164G>A (p.Cys55Tyr) c.1109G>A (p.Cys370Tyr) c.1061G>A (p.Cys354Tyr) n.492G>A c.101G>A (p.Cys34Tyr) c.-29G>A (n.-29G>A) | ClinVar dbSNP gnomAD v2 |
| 7 | g.44145639A>C | CA367398944 | GCK | c.*1109T>G (n.*1109T>G) c.*231T>G (n.*231T>G) n.337T>G c.145T>G (p.Cys49Gly) c.1114T>G (p.Cys372Gly) c.1111T>G (p.Cys371Gly) c.1174T>G (p.Cys392Gly) n.123T>G c.163T>G (p.Cys55Gly) c.1108T>G (p.Cys370Gly) c.1060T>G (p.Cys354Gly) n.491T>G c.100T>G (p.Cys34Gly) c.-30T>G (n.-30T>G) | ClinVar |
| 7 | g.44145639A>G | CA367398947 | GCK | c.*1109T>C (n.*1109T>C) c.*231T>C (n.*231T>C) n.337T>C c.145T>C (p.Cys49Arg) c.1114T>C (p.Cys372Arg) c.1111T>C (p.Cys371Arg) c.1174T>C (p.Cys392Arg) n.123T>C c.163T>C (p.Cys55Arg) c.1108T>C (p.Cys370Arg) c.1060T>C (p.Cys354Arg) n.491T>C c.100T>C (p.Cys34Arg) c.-30T>C (n.-30T>C) | ClinVar gnomAD v4 |
| 7 | g.44145639A>T | CA367398950 | GCK | c.*1109T>A (n.*1109T>A) c.*231T>A (n.*231T>A) n.337T>A c.145T>A (p.Cys49Ser) c.1114T>A (p.Cys372Ser) c.1111T>A (p.Cys371Ser) c.1174T>A (p.Cys392Ser) n.123T>A c.163T>A (p.Cys55Ser) c.1108T>A (p.Cys370Ser) c.1060T>A (p.Cys354Ser) n.491T>A c.100T>A (p.Cys34Ser) c.-30T>A (n.-30T>A) | |
| 7 | g.44145639_44145643dup | CA2695203046 | GCK | c.*1105_*1109dup (n.*1105_*1109dup) c.*227_*231dup (n.*227_*231dup) n.333_337dup c.141_145dup (p.Cys49SerfsTer?) c.1110_1114dup (p.Cys372SerfsTer?) c.1107_1111dup (p.Cys371SerfsTer?) c.1170_1174dup (p.Cys392SerfsTer?) n.119_123dup c.159_163dup (p.Cys55SerfsTer?) c.1104_1108dup (p.Cys370SerfsTer?) c.1056_1060dup (p.Cys354SerfsTer?) n.487_491dup c.96_100dup (p.Cys34SerfsTer?) c.-34_-30dup (n.-34_-30dup) | |
| 7 | g.44145640G>A | CA454863298 | GCK | c.*1108C>T (n.*1108C>T) c.*230C>T (n.*230C>T) n.336C>T c.144C>T (p.Ala48=) c.1113C>T (p.Ala371=) c.1110C>T (p.Ala370=) c.1173C>T (p.Ala391=) n.122C>T c.162C>T (p.Ala54=) c.1107C>T (p.Ala369=) c.1059C>T (p.Ala353=) n.490C>T c.99C>T (p.Ala33=) c.-31C>T (n.-31C>T) | |
| 7 | g.44145640G>C | CA454863300 | GCK | c.*1108C>G (n.*1108C>G) c.*230C>G (n.*230C>G) n.336C>G c.144C>G (p.Ala48=) c.1113C>G (p.Ala371=) c.1110C>G (p.Ala370=) c.1173C>G (p.Ala391=) n.122C>G c.162C>G (p.Ala54=) c.1107C>G (p.Ala369=) c.1059C>G (p.Ala353=) n.490C>G c.99C>G (p.Ala33=) c.-31C>G (n.-31C>G) | |
| 7 | g.44145640G>T | CA454863301 | GCK | c.*1108C>A (n.*1108C>A) c.*230C>A (n.*230C>A) n.336C>A c.144C>A (p.Ala48=) c.1113C>A (p.Ala371=) c.1110C>A (p.Ala370=) c.1173C>A (p.Ala391=) n.122C>A c.162C>A (p.Ala54=) c.1107C>A (p.Ala369=) c.1059C>A (p.Ala353=) n.490C>A c.99C>A (p.Ala33=) c.-31C>A (n.-31C>A) | gnomAD v4 |
| 7 | g.44145641G>A | CA367398952 | GCK | c.*1107C>T (n.*1107C>T) c.*229C>T (n.*229C>T) n.335C>T c.143C>T (p.Ala48Val) c.1112C>T (p.Ala371Val) c.1109C>T (p.Ala370Val) c.1172C>T (p.Ala391Val) n.121C>T c.161C>T (p.Ala54Val) c.1106C>T (p.Ala369Val) c.1058C>T (p.Ala353Val) n.489C>T c.98C>T (p.Ala33Val) c.-32C>T (n.-32C>T) | gnomAD v4 |
| 7 | g.44145641G>C | CA367398955 | GCK | c.*1107C>G (n.*1107C>G) c.*229C>G (n.*229C>G) n.335C>G c.143C>G (p.Ala48Gly) c.1112C>G (p.Ala371Gly) c.1109C>G (p.Ala370Gly) c.1172C>G (p.Ala391Gly) n.121C>G c.161C>G (p.Ala54Gly) c.1106C>G (p.Ala369Gly) c.1058C>G (p.Ala353Gly) n.489C>G c.98C>G (p.Ala33Gly) c.-32C>G (n.-32C>G) | |
| 7 | g.44145641G>T | CA367398957 | GCK | c.*1107C>A (n.*1107C>A) c.*229C>A (n.*229C>A) n.335C>A c.143C>A (p.Ala48Asp) c.1112C>A (p.Ala371Asp) c.1109C>A (p.Ala370Asp) c.1172C>A (p.Ala391Asp) n.121C>A c.161C>A (p.Ala54Asp) c.1106C>A (p.Ala369Asp) c.1058C>A (p.Ala353Asp) n.489C>A c.98C>A (p.Ala33Asp) c.-32C>A (n.-32C>A) | gnomAD v4 |
| 7 | g.44145642C>A | CA4239431 | GCK | c.*1106G>T (n.*1106G>T) c.*228G>T (n.*228G>T) n.334G>T c.142G>T (p.Ala48Ser) c.1111G>T (p.Ala371Ser) c.1108G>T (p.Ala370Ser) c.1171G>T (p.Ala391Ser) n.120G>T c.160G>T (p.Ala54Ser) c.1105G>T (p.Ala369Ser) c.1057G>T (p.Ala353Ser) n.488G>T c.97G>T (p.Ala33Ser) c.-33G>T (n.-33G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44145642C= | CA1703612936 | GCK | c.*1106G= (n.*1106G=) c.*228G= (n.*228G=) n.334G= c.142G= (p.Ala48=) c.1111G= (p.Ala371=) c.1108G= (p.Ala370=) c.1171G= (p.Ala391=) n.120G= c.160G= (p.Ala54=) c.1105G= (p.Ala369=) c.1057G= (p.Ala353=) n.488G= c.97G= (p.Ala33=) c.-33G= (n.-33G=) | |
| 7 | g.44145642C>G | CA367398963 | GCK | c.*1106G>C (n.*1106G>C) c.*228G>C (n.*228G>C) n.334G>C c.142G>C (p.Ala48Pro) c.1111G>C (p.Ala371Pro) c.1108G>C (p.Ala370Pro) c.1171G>C (p.Ala391Pro) n.120G>C c.160G>C (p.Ala54Pro) c.1105G>C (p.Ala369Pro) c.1057G>C (p.Ala353Pro) n.488G>C c.97G>C (p.Ala33Pro) c.-33G>C (n.-33G>C) | ClinVar |
| 7 | g.44145642C>T | CA367398961 | GCK | c.*1106G>A (n.*1106G>A) c.*228G>A (n.*228G>A) n.334G>A c.142G>A (p.Ala48Thr) c.1111G>A (p.Ala371Thr) c.1108G>A (p.Ala370Thr) c.1171G>A (p.Ala391Thr) n.120G>A c.160G>A (p.Ala54Thr) c.1105G>A (p.Ala369Thr) c.1057G>A (p.Ala353Thr) n.488G>A c.97G>A (p.Ala33Thr) c.-33G>A (n.-33G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44145643G>A | CA454863304 | GCK | c.*1105C>T (n.*1105C>T) c.*227C>T (n.*227C>T) n.333C>T c.141C>T (p.Arg47=) c.1110C>T (p.Arg370=) c.1107C>T (p.Arg369=) c.1170C>T (p.Arg390=) n.119C>T c.159C>T (p.Arg53=) c.1104C>T (p.Arg368=) c.1056C>T (p.Arg352=) n.487C>T c.96C>T (p.Arg32=) c.-34C>T (n.-34C>T) | gnomAD v4 |
| 7 | g.44145643G>C | CA454863305 | GCK | c.*1105C>G (n.*1105C>G) c.*227C>G (n.*227C>G) n.333C>G c.141C>G (p.Arg47=) c.1110C>G (p.Arg370=) c.1107C>G (p.Arg369=) c.1170C>G (p.Arg390=) n.119C>G c.159C>G (p.Arg53=) c.1104C>G (p.Arg368=) c.1056C>G (p.Arg352=) n.487C>G c.96C>G (p.Arg32=) c.-34C>G (n.-34C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44145643G= | CA1703612937 | GCK | c.*1105C= (n.*1105C=) c.*227C= (n.*227C=) n.333C= c.141C= (p.Arg47=) c.1110C= (p.Arg370=) c.1107C= (p.Arg369=) c.1170C= (p.Arg390=) n.119C= c.159C= (p.Arg53=) c.1104C= (p.Arg368=) c.1056C= (p.Arg352=) n.487C= c.96C= (p.Arg32=) c.-34C= (n.-34C=) | |
| 7 | g.44145643G>T | CA454863307 | GCK | c.*1105C>A (n.*1105C>A) c.*227C>A (n.*227C>A) n.333C>A c.141C>A (p.Arg47=) c.1110C>A (p.Arg370=) c.1107C>A (p.Arg369=) c.1170C>A (p.Arg390=) n.119C>A c.159C>A (p.Arg53=) c.1104C>A (p.Arg368=) c.1056C>A (p.Arg352=) n.487C>A c.96C>A (p.Arg32=) c.-34C>A (n.-34C>A) | gnomAD v4 |
| 7 | g.44145644C>A | CA367398966 | GCK | c.*1104G>T (n.*1104G>T) c.*226G>T (n.*226G>T) n.332G>T c.140G>T (p.Arg47Leu) c.1109G>T (p.Arg370Leu) c.1106G>T (p.Arg369Leu) c.1169G>T (p.Arg390Leu) n.118G>T c.158G>T (p.Arg53Leu) c.1103G>T (p.Arg368Leu) c.1055G>T (p.Arg352Leu) n.486G>T n.404G>T c.95G>T (p.Arg32Leu) c.-35G>T (n.-35G>T) | gnomAD v4 |
| 7 | g.44145644C= | CA1703612938 | GCK | c.*1104G= (n.*1104G=) c.*226G= (n.*226G=) n.332G= c.140G= (p.Arg47=) c.1109G= (p.Arg370=) c.1106G= (p.Arg369=) c.1169G= (p.Arg390=) n.118G= c.158G= (p.Arg53=) c.1103G= (p.Arg368=) c.1055G= (p.Arg352=) n.486G= n.404G= c.95G= (p.Arg32=) c.-35G= (n.-35G=) | |
| 7 | g.44145644C>G | CA367398967 | GCK | c.*1104G>C (n.*1104G>C) c.*226G>C (n.*226G>C) n.332G>C c.140G>C (p.Arg47Pro) c.1109G>C (p.Arg370Pro) c.1106G>C (p.Arg369Pro) c.1169G>C (p.Arg390Pro) n.118G>C c.158G>C (p.Arg53Pro) c.1103G>C (p.Arg368Pro) c.1055G>C (p.Arg352Pro) n.486G>C n.404G>C c.95G>C (p.Arg32Pro) c.-35G>C (n.-35G>C) | ClinVar |
| 7 | g.44145644C>T | CA367398969 | GCK | c.*1104G>A (n.*1104G>A) c.*226G>A (n.*226G>A) n.332G>A c.140G>A (p.Arg47His) c.1109G>A (p.Arg370His) c.1106G>A (p.Arg369His) c.1169G>A (p.Arg390His) n.118G>A c.158G>A (p.Arg53His) c.1103G>A (p.Arg368His) c.1055G>A (p.Arg352His) n.486G>A n.404G>A c.95G>A (p.Arg32His) c.-35G>A (n.-35G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44145645G>A | CA4239433 | GCK | c.*1103C>T (n.*1103C>T) c.*225C>T (n.*225C>T) n.331C>T c.139C>T (p.Arg47Cys) c.1108C>T (p.Arg370Cys) c.1105C>T (p.Arg369Cys) c.1168C>T (p.Arg390Cys) n.117C>T c.157C>T (p.Arg53Cys) c.1102C>T (p.Arg368Cys) c.1054C>T (p.Arg352Cys) n.485C>T n.403C>T c.94C>T (p.Arg32Cys) c.-36C>T (n.-36C>T) | dbSNP ExAC gnomAD v2 COSMIC COSMIC COSMIC |
| 7 | g.44145645G>C | CA4239432 | GCK | c.*1103C>G (n.*1103C>G) c.*225C>G (n.*225C>G) n.331C>G c.139C>G (p.Arg47Gly) c.1108C>G (p.Arg370Gly) c.1105C>G (p.Arg369Gly) c.1168C>G (p.Arg390Gly) n.117C>G c.157C>G (p.Arg53Gly) c.1102C>G (p.Arg368Gly) c.1054C>G (p.Arg352Gly) n.485C>G n.403C>G c.94C>G (p.Arg32Gly) c.-36C>G (n.-36C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44145645G= | CA1703612939 | GCK | c.*1103C= (n.*1103C=) c.*225C= (n.*225C=) n.331C= c.139C= (p.Arg47=) c.1108C= (p.Arg370=) c.1105C= (p.Arg369=) c.1168C= (p.Arg390=) n.117C= c.157C= (p.Arg53=) c.1102C= (p.Arg368=) c.1054C= (p.Arg352=) n.485C= n.403C= c.94C= (p.Arg32=) c.-36C= (n.-36C=) | |
| 7 | g.44145645G>T | CA367398973 | GCK | c.*1103C>A (n.*1103C>A) c.*225C>A (n.*225C>A) n.331C>A c.139C>A (p.Arg47Ser) c.1108C>A (p.Arg370Ser) c.1105C>A (p.Arg369Ser) c.1168C>A (p.Arg390Ser) n.117C>A c.157C>A (p.Arg53Ser) c.1102C>A (p.Arg368Ser) c.1054C>A (p.Arg352Ser) n.485C>A n.403C>A c.94C>A (p.Arg32Ser) c.-36C>A (n.-36C>A) | dbSNP gnomAD v4 |
| 7 | g.44145646G>A | CA454863315 | GCK | c.*1102C>T (n.*1102C>T) c.*224C>T (n.*224C>T) n.330C>T c.138C>T (p.Arg46=) c.1107C>T (p.Arg369=) c.1104C>T (p.Arg368=) c.1167C>T (p.Arg389=) n.116C>T c.156C>T (p.Arg52=) c.1101C>T (p.Arg367=) c.1053C>T (p.Arg351=) n.484C>T n.402C>T c.93C>T (p.Arg31=) c.-37C>T (n.-37C>T) | gnomAD v4 |
| 7 | g.44145646G>C | CA454863317 | GCK | c.*1102C>G (n.*1102C>G) c.*224C>G (n.*224C>G) n.330C>G c.138C>G (p.Arg46=) c.1107C>G (p.Arg369=) c.1104C>G (p.Arg368=) c.1167C>G (p.Arg389=) n.116C>G c.156C>G (p.Arg52=) c.1101C>G (p.Arg367=) c.1053C>G (p.Arg351=) n.484C>G n.402C>G c.93C>G (p.Arg31=) c.-37C>G (n.-37C>G) | |
| 7 | g.44145646G>T | CA454863318 | GCK | c.*1102C>A (n.*1102C>A) c.*224C>A (n.*224C>A) n.330C>A c.138C>A (p.Arg46=) c.1107C>A (p.Arg369=) c.1104C>A (p.Arg368=) c.1167C>A (p.Arg389=) n.116C>A c.156C>A (p.Arg52=) c.1101C>A (p.Arg367=) c.1053C>A (p.Arg351=) n.484C>A n.402C>A c.93C>A (p.Arg31=) c.-37C>A (n.-37C>A) | gnomAD v4 |
| 7 | g.44145647C>A | CA367398976 | GCK | c.*1101G>T (n.*1101G>T) c.*223G>T (n.*223G>T) n.329G>T c.137G>T (p.Arg46Leu) c.1106G>T (p.Arg369Leu) c.1103G>T (p.Arg368Leu) c.1166G>T (p.Arg389Leu) n.115G>T c.155G>T (p.Arg52Leu) c.1100G>T (p.Arg367Leu) c.1052G>T (p.Arg351Leu) n.483G>T n.401G>T c.92G>T (p.Arg31Leu) c.-38G>T (n.-38G>T) | |
| 7 | g.44145647C>G | CA367398978 | GCK | c.*1101G>C (n.*1101G>C) c.*223G>C (n.*223G>C) n.329G>C c.137G>C (p.Arg46Pro) c.1106G>C (p.Arg369Pro) c.1103G>C (p.Arg368Pro) c.1166G>C (p.Arg389Pro) n.115G>C c.155G>C (p.Arg52Pro) c.1100G>C (p.Arg367Pro) c.1052G>C (p.Arg351Pro) n.483G>C n.401G>C c.92G>C (p.Arg31Pro) c.-38G>C (n.-38G>C) | |
| 7 | g.44145647C>T | CA367398980 | GCK | c.*1101G>A (n.*1101G>A) c.*223G>A (n.*223G>A) n.329G>A c.137G>A (p.Arg46His) c.1106G>A (p.Arg369His) c.1103G>A (p.Arg368His) c.1166G>A (p.Arg389His) n.115G>A c.155G>A (p.Arg52His) c.1100G>A (p.Arg367His) c.1052G>A (p.Arg351His) n.483G>A n.401G>A c.92G>A (p.Arg31His) c.-38G>A (n.-38G>A) | gnomAD v4 |
| 7 | g.44145648_44145683del | CA2695203047 | GCK | c.*1066_*1101del (n.*1066_*1101del) c.*188_*223del (n.*188_*223del) n.294_329del c.102_137del (p.Leu35_Arg46del) c.1071_1106del (p.Leu358_Arg369del) c.1068_1103del (p.Leu357_Arg368del) c.1131_1166del (p.Leu378_Arg389del) n.80_115del c.120_155del (p.Leu41_Arg52del) c.1065_1100del (p.Leu356_Arg367del) c.1017_1052del (p.Leu340_Arg351del) n.448_483del n.366_401del c.57_92del (p.Leu20_Arg31del) c.-73_-38del (n.-73_-38del) | |
| 7 | g.44145648G>A | CA367398984 | GCK | c.*1100C>T (n.*1100C>T) c.*222C>T (n.*222C>T) n.328C>T c.136C>T (p.Arg46Cys) c.1105C>T (p.Arg369Cys) c.1102C>T (p.Arg368Cys) c.1165C>T (p.Arg389Cys) n.114C>T c.154C>T (p.Arg52Cys) c.1099C>T (p.Arg367Cys) c.1051C>T (p.Arg351Cys) n.482C>T n.400C>T c.91C>T (p.Arg31Cys) c.-39C>T (n.-39C>T) | gnomAD v4 |
| 7 | g.44145648G>C | CA367398986 | GCK | c.*1100C>G (n.*1100C>G) c.*222C>G (n.*222C>G) n.328C>G c.136C>G (p.Arg46Gly) c.1105C>G (p.Arg369Gly) c.1102C>G (p.Arg368Gly) c.1165C>G (p.Arg389Gly) n.114C>G c.154C>G (p.Arg52Gly) c.1099C>G (p.Arg367Gly) c.1051C>G (p.Arg351Gly) n.482C>G n.400C>G c.91C>G (p.Arg31Gly) c.-39C>G (n.-39C>G) | dbSNP |
| 7 | g.44145648G= | CA1703612940 | GCK | c.*1100C= (n.*1100C=) c.*222C= (n.*222C=) n.328C= c.136C= (p.Arg46=) c.1105C= (p.Arg369=) c.1102C= (p.Arg368=) c.1165C= (p.Arg389=) n.114C= c.154C= (p.Arg52=) c.1099C= (p.Arg367=) c.1051C= (p.Arg351=) n.482C= n.400C= c.91C= (p.Arg31=) c.-39C= (n.-39C=) | |
| 7 | g.44145648G>T | CA367398982 | GCK | c.*1100C>A (n.*1100C>A) c.*222C>A (n.*222C>A) n.328C>A c.136C>A (p.Arg46Ser) c.1105C>A (p.Arg369Ser) c.1102C>A (p.Arg368Ser) c.1165C>A (p.Arg389Ser) n.114C>A c.154C>A (p.Arg52Ser) c.1099C>A (p.Arg367Ser) c.1051C>A (p.Arg351Ser) n.482C>A n.400C>A c.91C>A (p.Arg31Ser) c.-39C>A (n.-39C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44145649C>A | CA454863041 | GCK | c.*1099G>T (n.*1099G>T) c.*221G>T (n.*221G>T) n.327G>T c.135G>T (p.Val45=) c.1104G>T (p.Val368=) c.1101G>T (p.Val367=) c.1164G>T (p.Val388=) n.113G>T c.153G>T (p.Val51=) c.1098G>T (p.Val366=) c.1050G>T (p.Val350=) n.481G>T n.399G>T c.90G>T (p.Val30=) c.-40G>T (n.-40G>T) | |
| 7 | g.44145649C= | CA1703612941 | GCK | c.*1099G= (n.*1099G=) c.*221G= (n.*221G=) n.327G= c.135G= (p.Val45=) c.1104G= (p.Val368=) c.1101G= (p.Val367=) c.1164G= (p.Val388=) n.113G= c.153G= (p.Val51=) c.1098G= (p.Val366=) c.1050G= (p.Val350=) n.481G= n.399G= c.90G= (p.Val30=) c.-40G= (n.-40G=) | |
| 7 | g.44145649C>G | CA454863043 | GCK | c.*1099G>C (n.*1099G>C) c.*221G>C (n.*221G>C) n.327G>C c.135G>C (p.Val45=) c.1104G>C (p.Val368=) c.1101G>C (p.Val367=) c.1164G>C (p.Val388=) n.113G>C c.153G>C (p.Val51=) c.1098G>C (p.Val366=) c.1050G>C (p.Val350=) n.481G>C n.399G>C c.90G>C (p.Val30=) c.-40G>C (n.-40G>C) | dbSNP |