| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44146464_44146482del | CA2682585935 | GCK | c.*998_*1016del (n.*998_*1016del) c.*120_*138del (n.*120_*138del) n.226_244del c.1003_1021del (p.Phe335AlafsTer13) c.1000_1018del (p.Phe334AlafsTer13) c.1063_1081del (p.Phe355AlafsTer13) c.997_1015del (p.Phe333AlafsTer13) c.949_967del (p.Phe317AlafsTer13) n.298_316del c.8+137_8+155del (n.8+137_8+155del) | gnomAD v4 |
| 7 | g.44146478_44146479delinsAC | CA1703613459 | GCK | c.*1001_*1002delinsGT (n.*1001_*1002delinsGT) c.*123_*124delinsGT (n.*123_*124delinsGT) n.229_230delinsGT c.1006_1007delinsGT (p.Val336=) c.1003_1004delinsGT (p.Val335=) c.1066_1067delinsGT (p.Val356=) c.1000_1001delinsGT (p.Val334=) c.952_953delinsGT (p.Val318=) n.301_302delinsGT c.8+140_8+141delinsGT (n.8+140_8+141delinsGT) | |
| 7 | g.44146479del | CA213699 | GCK | c.*1001del (n.*1001del) c.*123del (n.*123del) n.229del c.1006del (p.Val336CysfsTer18) c.1003del (p.Val335CysfsTer18) c.1066del (p.Val356CysfsTer18) c.1000del (p.Val334CysfsTer18) c.952del (p.Val318CysfsTer18) n.301del c.8+140del (n.8+140del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44146479C>A | CA367399739 | GCK | c.*1001G>T (n.*1001G>T) c.*123G>T (n.*123G>T) n.229G>T c.1006G>T (p.Val336Leu) c.1003G>T (p.Val335Leu) c.1066G>T (p.Val356Leu) c.1000G>T (p.Val334Leu) c.952G>T (p.Val318Leu) n.301G>T c.8+140G>T (n.8+140G>T) | gnomAD v4 |
| 7 | g.44146479C= | CA1703613461 | GCK | c.*1001G= (n.*1001G=) c.*123G= (n.*123G=) n.229G= c.1006G= (p.Val336=) c.1003G= (p.Val335=) c.1066G= (p.Val356=) c.1000G= (p.Val334=) c.952G= (p.Val318=) n.301G= c.8+140G= (n.8+140G=) | |
| 7 | g.44146479C>G | CA367399737 | GCK | c.*1001G>C (n.*1001G>C) c.*123G>C (n.*123G>C) n.229G>C c.1006G>C (p.Val336Leu) c.1003G>C (p.Val335Leu) c.1066G>C (p.Val356Leu) c.1000G>C (p.Val334Leu) c.952G>C (p.Val318Leu) n.301G>C c.8+140G>C (n.8+140G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44146479C>T | CA367399740 | GCK | c.*1001G>A (n.*1001G>A) c.*123G>A (n.*123G>A) n.229G>A c.1006G>A (p.Val336Met) c.1003G>A (p.Val335Met) c.1066G>A (p.Val356Met) c.1000G>A (p.Val334Met) c.952G>A (p.Val318Met) n.301G>A c.8+140G>A (n.8+140G>A) | |
| 7 | g.44146479_44146480delinsCG | CA1703613460 | GCK | c.*1000_*1001delinsCG (n.*1000_*1001delinsCG) c.*122_*123delinsCG (n.*122_*123delinsCG) n.228_229delinsCG c.1005_1006delinsCG (p.Phe335=) c.1002_1003delinsCG (p.Phe334=) c.1065_1066delinsCG (p.Phe355=) c.999_1000delinsCG (p.Phe333=) c.951_952delinsCG (p.Phe317=) n.300_301delinsCG c.8+139_8+140delinsCG (n.8+139_8+140delinsCG) | |
| 7 | g.44146479_44146480delinsTT | CA213696 | GCK | c.*1000_*1001delinsAA (n.*1000_*1001delinsAA) c.*122_*123delinsAA (n.*122_*123delinsAA) n.228_229delinsAA c.1005_1006delinsAA (p.Phe335_Val336delinsLeuMet) c.1002_1003delinsAA (p.Phe334_Val335delinsLeuMet) c.1065_1066delinsAA (p.Phe355_Val356delinsLeuMet) c.999_1000delinsAA (p.Phe333_Val334delinsLeuMet) c.951_952delinsAA (p.Phe317_Val318delinsLeuMet) n.300_301delinsAA c.8+139_8+140delinsAA (n.8+139_8+140delinsAA) | ClinVar dbSNP |
| 7 | g.44146480G>A | CA454607737 | GCK | c.*1000C>T (n.*1000C>T) c.*122C>T (n.*122C>T) n.228C>T c.1005C>T (p.Phe335=) c.1002C>T (p.Phe334=) c.1065C>T (p.Phe355=) c.999C>T (p.Phe333=) c.951C>T (p.Phe317=) n.300C>T c.8+139C>T (n.8+139C>T) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44146480G>C | CA367399742 | GCK | c.*1000C>G (n.*1000C>G) c.*122C>G (n.*122C>G) n.228C>G c.1005C>G (p.Phe335Leu) c.1002C>G (p.Phe334Leu) c.1065C>G (p.Phe355Leu) c.999C>G (p.Phe333Leu) c.951C>G (p.Phe317Leu) n.300C>G c.8+139C>G (n.8+139C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44146480G= | CA1703613462 | GCK | c.*1000C= (n.*1000C=) c.*122C= (n.*122C=) n.228C= c.1005C= (p.Phe335=) c.1002C= (p.Phe334=) c.1065C= (p.Phe355=) c.999C= (p.Phe333=) c.951C= (p.Phe317=) n.300C= c.8+139C= (n.8+139C=) | |
| 7 | g.44146480G>T | CA367399743 | GCK | c.*1000C>A (n.*1000C>A) c.*122C>A (n.*122C>A) n.228C>A c.1005C>A (p.Phe335Leu) c.1002C>A (p.Phe334Leu) c.1065C>A (p.Phe355Leu) c.999C>A (p.Phe333Leu) c.951C>A (p.Phe317Leu) n.300C>A c.8+139C>A (n.8+139C>A) | gnomAD v4 |
| 7 | g.44146481A>C | CA367399746 | GCK | c.*999T>G (n.*999T>G) c.*121T>G (n.*121T>G) n.227T>G c.1004T>G (p.Phe335Cys) c.1001T>G (p.Phe334Cys) c.1064T>G (p.Phe355Cys) c.998T>G (p.Phe333Cys) c.950T>G (p.Phe317Cys) n.299T>G c.8+138T>G (n.8+138T>G) | |
| 7 | g.44146481A>G | CA367399747 | GCK | c.*999T>C (n.*999T>C) c.*121T>C (n.*121T>C) n.227T>C c.1004T>C (p.Phe335Ser) c.1001T>C (p.Phe334Ser) c.1064T>C (p.Phe355Ser) c.998T>C (p.Phe333Ser) c.950T>C (p.Phe317Ser) n.299T>C c.8+138T>C (n.8+138T>C) | |
| 7 | g.44146481A>T | CA367399749 | GCK | c.*999T>A (n.*999T>A) c.*121T>A (n.*121T>A) n.227T>A c.1004T>A (p.Phe335Tyr) c.1001T>A (p.Phe334Tyr) c.1064T>A (p.Phe355Tyr) c.998T>A (p.Phe333Tyr) c.950T>A (p.Phe317Tyr) n.299T>A c.8+138T>A (n.8+138T>A) | |
| 7 | g.44146482A>C | CA367399750 | GCK | c.*998T>G (n.*998T>G) c.*120T>G (n.*120T>G) n.226T>G c.1003T>G (p.Phe335Val) c.1000T>G (p.Phe334Val) c.1063T>G (p.Phe355Val) c.997T>G (p.Phe333Val) c.949T>G (p.Phe317Val) n.298T>G c.8+137T>G (n.8+137T>G) | |
| 7 | g.44146482A>G | CA367399751 | GCK | c.*998T>C (n.*998T>C) c.*120T>C (n.*120T>C) n.226T>C c.1003T>C (p.Phe335Leu) c.1000T>C (p.Phe334Leu) c.1063T>C (p.Phe355Leu) c.997T>C (p.Phe333Leu) c.949T>C (p.Phe317Leu) n.298T>C c.8+137T>C (n.8+137T>C) | |
| 7 | g.44146482A>T | CA367399753 | GCK | c.*998T>A (n.*998T>A) c.*120T>A (n.*120T>A) n.226T>A c.1003T>A (p.Phe335Ile) c.1000T>A (p.Phe334Ile) c.1063T>A (p.Phe355Ile) c.997T>A (p.Phe333Ile) c.949T>A (p.Phe317Ile) n.298T>A c.8+137T>A (n.8+137T>A) | |
| 7 | g.44146483G>A | CA454607746 | GCK | c.*997C>T (n.*997C>T) c.*119C>T (n.*119C>T) n.225C>T c.1002C>T (p.Arg334=) c.999C>T (p.Arg333=) c.1062C>T (p.Arg354=) c.996C>T (p.Arg332=) c.948C>T (p.Arg316=) n.297C>T c.8+136C>T (n.8+136C>T) | |
| 7 | g.44146483G>C | CA454607747 | GCK | c.*997C>G (n.*997C>G) c.*119C>G (n.*119C>G) n.225C>G c.1002C>G (p.Arg334=) c.999C>G (p.Arg333=) c.1062C>G (p.Arg354=) c.996C>G (p.Arg332=) c.948C>G (p.Arg316=) n.297C>G c.8+136C>G (n.8+136C>G) | |
| 7 | g.44146483G>T | CA454607749 | GCK | c.*997C>A (n.*997C>A) c.*119C>A (n.*119C>A) n.225C>A c.1002C>A (p.Arg334=) c.999C>A (p.Arg333=) c.1062C>A (p.Arg354=) c.996C>A (p.Arg332=) c.948C>A (p.Arg316=) n.297C>A c.8+136C>A (n.8+136C>A) | gnomAD v4 |
| 7 | g.44146484C>A | CA367399755 | GCK | c.*996G>T (n.*996G>T) c.*118G>T (n.*118G>T) n.224G>T c.1001G>T (p.Arg334Leu) c.998G>T (p.Arg333Leu) c.1061G>T (p.Arg354Leu) c.995G>T (p.Arg332Leu) c.947G>T (p.Arg316Leu) n.296G>T c.8+135G>T (n.8+135G>T) | gnomAD v4 |
| 7 | g.44146484C= | CA1703613463 | GCK | c.*996G= (n.*996G=) c.*118G= (n.*118G=) n.224G= c.1001G= (p.Arg334=) c.998G= (p.Arg333=) c.1061G= (p.Arg354=) c.995G= (p.Arg332=) c.947G= (p.Arg316=) n.296G= c.8+135G= (n.8+135G=) | |
| 7 | g.44146484C>G | CA367399757 | GCK | c.*996G>C (n.*996G>C) c.*118G>C (n.*118G>C) n.224G>C c.1001G>C (p.Arg334Pro) c.998G>C (p.Arg333Pro) c.1061G>C (p.Arg354Pro) c.995G>C (p.Arg332Pro) c.947G>C (p.Arg316Pro) n.296G>C c.8+135G>C (n.8+135G>C) | |
| 7 | g.44146484C>T | CA367399758 | GCK | c.*996G>A (n.*996G>A) c.*118G>A (n.*118G>A) n.224G>A c.1001G>A (p.Arg334His) c.998G>A (p.Arg333His) c.1061G>A (p.Arg354His) c.995G>A (p.Arg332His) c.947G>A (p.Arg316His) n.296G>A c.8+135G>A (n.8+135G>A) | dbSNP gnomAD v4 |
| 7 | g.44146485G>A | CA367399764 | GCK | c.*995C>T (n.*995C>T) c.*117C>T (n.*117C>T) n.223C>T c.1000C>T (p.Arg334Cys) c.997C>T (p.Arg333Cys) c.1060C>T (p.Arg354Cys) c.994C>T (p.Arg332Cys) c.946C>T (p.Arg316Cys) n.295C>T c.8+134C>T (n.8+134C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44146485G>C | CA367399760 | GCK | c.*995C>G (n.*995C>G) c.*117C>G (n.*117C>G) n.223C>G c.1000C>G (p.Arg334Gly) c.997C>G (p.Arg333Gly) c.1060C>G (p.Arg354Gly) c.994C>G (p.Arg332Gly) c.946C>G (p.Arg316Gly) n.295C>G c.8+134C>G (n.8+134C>G) | |
| 7 | g.44146485G= | CA1703613464 | GCK | c.*995C= (n.*995C=) c.*117C= (n.*117C=) n.223C= c.1000C= (p.Arg334=) c.997C= (p.Arg333=) c.1060C= (p.Arg354=) c.994C= (p.Arg332=) c.946C= (p.Arg316=) n.295C= c.8+134C= (n.8+134C=) | |
| 7 | g.44146485G>T | CA367399762 | GCK | c.*995C>A (n.*995C>A) c.*117C>A (n.*117C>A) n.223C>A c.1000C>A (p.Arg334Ser) c.997C>A (p.Arg333Ser) c.1060C>A (p.Arg354Ser) c.994C>A (p.Arg332Ser) c.946C>A (p.Arg316Ser) n.295C>A c.8+134C>A (n.8+134C>A) | gnomAD v4 |
| 7 | g.44146486C>A | CA454607755 | GCK | c.*994G>T (n.*994G>T) c.*116G>T (n.*116G>T) n.222G>T c.999G>T (p.Thr333=) c.996G>T (p.Thr332=) c.1059G>T (p.Thr353=) c.993G>T (p.Thr331=) c.945G>T (p.Thr315=) n.294G>T c.8+133G>T (n.8+133G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44146486C= | CA1703613465 | GCK | c.*994G= (n.*994G=) c.*116G= (n.*116G=) n.222G= c.999G= (p.Thr333=) c.996G= (p.Thr332=) c.1059G= (p.Thr353=) c.993G= (p.Thr331=) c.945G= (p.Thr315=) n.294G= c.8+133G= (n.8+133G=) | |
| 7 | g.44146486C>G | CA454607756 | GCK | c.*994G>C (n.*994G>C) c.*116G>C (n.*116G>C) n.222G>C c.999G>C (p.Thr333=) c.996G>C (p.Thr332=) c.1059G>C (p.Thr353=) c.993G>C (p.Thr331=) c.945G>C (p.Thr315=) n.294G>C c.8+133G>C (n.8+133G>C) | |
| 7 | g.44146486C>T | CA454607754 | GCK | c.*994G>A (n.*994G>A) c.*116G>A (n.*116G>A) n.222G>A c.999G>A (p.Thr333=) c.996G>A (p.Thr332=) c.1059G>A (p.Thr353=) c.993G>A (p.Thr331=) c.945G>A (p.Thr315=) n.294G>A c.8+133G>A (n.8+133G>A) | gnomAD v4 |
| 7 | g.44146487G>A | CA4239471 | GCK | c.*993C>T (n.*993C>T) c.*115C>T (n.*115C>T) n.221C>T c.998C>T (p.Thr333Met) c.995C>T (p.Thr332Met) c.1058C>T (p.Thr353Met) c.992C>T (p.Thr331Met) c.944C>T (p.Thr315Met) n.293C>T c.8+132C>T (n.8+132C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44146487G>C | CA367399765 | GCK | c.*993C>G (n.*993C>G) c.*115C>G (n.*115C>G) n.221C>G c.998C>G (p.Thr333Arg) c.995C>G (p.Thr332Arg) c.1058C>G (p.Thr353Arg) c.992C>G (p.Thr331Arg) c.944C>G (p.Thr315Arg) n.293C>G c.8+132C>G (n.8+132C>G) | ClinVar dbSNP |
| 7 | g.44146487G= | CA1703613466 | GCK | c.*993C= (n.*993C=) c.*115C= (n.*115C=) n.221C= c.998C= (p.Thr333=) c.995C= (p.Thr332=) c.1058C= (p.Thr353=) c.992C= (p.Thr331=) c.944C= (p.Thr315=) n.293C= c.8+132C= (n.8+132C=) | |
| 7 | g.44146487G>T | CA367399767 | GCK | c.*993C>A (n.*993C>A) c.*115C>A (n.*115C>A) n.221C>A c.998C>A (p.Thr333Lys) c.995C>A (p.Thr332Lys) c.1058C>A (p.Thr353Lys) c.992C>A (p.Thr331Lys) c.944C>A (p.Thr315Lys) n.293C>A c.8+132C>A (n.8+132C>A) | gnomAD v4 |
| 7 | g.44146488T>A | CA367399768 | GCK | c.*992A>T (n.*992A>T) c.*114A>T (n.*114A>T) n.220A>T c.997A>T (p.Thr333Ser) c.994A>T (p.Thr332Ser) c.1057A>T (p.Thr353Ser) c.991A>T (p.Thr331Ser) c.943A>T (p.Thr315Ser) n.292A>T c.8+131A>T (n.8+131A>T) | |
| 7 | g.44146488T>C | CA367399770 | GCK | c.*992A>G (n.*992A>G) c.*114A>G (n.*114A>G) n.220A>G c.997A>G (p.Thr333Ala) c.994A>G (p.Thr332Ala) c.1057A>G (p.Thr353Ala) c.991A>G (p.Thr331Ala) c.943A>G (p.Thr315Ala) n.292A>G c.8+131A>G (n.8+131A>G) | |
| 7 | g.44146488T>G | CA367399771 | GCK | c.*992A>C (n.*992A>C) c.*114A>C (n.*114A>C) n.220A>C c.997A>C (p.Thr333Pro) c.994A>C (p.Thr332Pro) c.1057A>C (p.Thr353Pro) c.991A>C (p.Thr331Pro) c.943A>C (p.Thr315Pro) n.292A>C c.8+131A>C (n.8+131A>C) | |
| 7 | g.44146489C>A | CA367399773 | GCK | c.*991G>T (n.*991G>T) c.*113G>T (n.*113G>T) n.219G>T c.996G>T (p.Glu332Asp) c.993G>T (p.Glu331Asp) c.1056G>T (p.Glu352Asp) c.990G>T (p.Glu330Asp) c.942G>T (p.Glu314Asp) n.291G>T c.8+130G>T (n.8+130G>T) | |
| 7 | g.44146489C>G | CA367399774 | GCK | c.*991G>C (n.*991G>C) c.*113G>C (n.*113G>C) n.219G>C c.996G>C (p.Glu332Asp) c.993G>C (p.Glu331Asp) c.1056G>C (p.Glu352Asp) c.990G>C (p.Glu330Asp) c.942G>C (p.Glu314Asp) n.291G>C c.8+130G>C (n.8+130G>C) | |
| 7 | g.44146489C>T | CA454607758 | GCK | c.*991G>A (n.*991G>A) c.*113G>A (n.*113G>A) n.219G>A c.996G>A (p.Glu332=) c.993G>A (p.Glu331=) c.1056G>A (p.Glu352=) c.990G>A (p.Glu330=) c.942G>A (p.Glu314=) n.291G>A c.8+130G>A (n.8+130G>A) | |
| 7 | g.44146490T>A | CA367399776 | GCK | c.*990A>T (n.*990A>T) c.*112A>T (n.*112A>T) n.218A>T c.995A>T (p.Glu332Val) c.992A>T (p.Glu331Val) c.1055A>T (p.Glu352Val) c.989A>T (p.Glu330Val) c.941A>T (p.Glu314Val) n.290A>T c.8+129A>T (n.8+129A>T) | |
| 7 | g.44146490T>C | CA367399778 | GCK | c.*990A>G (n.*990A>G) c.*112A>G (n.*112A>G) n.218A>G c.995A>G (p.Glu332Gly) c.992A>G (p.Glu331Gly) c.1055A>G (p.Glu352Gly) c.989A>G (p.Glu330Gly) c.941A>G (p.Glu314Gly) n.290A>G c.8+129A>G (n.8+129A>G) | |
| 7 | g.44146490T>G | CA367399780 | GCK | c.*990A>C (n.*990A>C) c.*112A>C (n.*112A>C) n.218A>C c.995A>C (p.Glu332Ala) c.992A>C (p.Glu331Ala) c.1055A>C (p.Glu352Ala) c.989A>C (p.Glu330Ala) c.941A>C (p.Glu314Ala) n.290A>C c.8+129A>C (n.8+129A>C) | |
| 7 | g.44146491C>A | CA367399781 | GCK | c.*989G>T (n.*989G>T) c.*111G>T (n.*111G>T) n.217G>T c.994G>T (p.Glu332Ter) c.991G>T (p.Glu331Ter) c.1054G>T (p.Glu352Ter) c.988G>T (p.Glu330Ter) c.940G>T (p.Glu314Ter) n.289G>T c.8+128G>T (n.8+128G>T) | gnomAD v4 |
| 7 | g.44146491C>G | CA367399784 | GCK | c.*989G>C (n.*989G>C) c.*111G>C (n.*111G>C) n.217G>C c.994G>C (p.Glu332Gln) c.991G>C (p.Glu331Gln) c.1054G>C (p.Glu352Gln) c.988G>C (p.Glu330Gln) c.940G>C (p.Glu314Gln) n.289G>C c.8+128G>C (n.8+128G>C) | |
| 7 | g.44146491C>T | CA367399782 | GCK | c.*989G>A (n.*989G>A) c.*111G>A (n.*111G>A) n.217G>A c.994G>A (p.Glu332Lys) c.991G>A (p.Glu331Lys) c.1054G>A (p.Glu352Lys) c.988G>A (p.Glu330Lys) c.940G>A (p.Glu314Lys) n.289G>A c.8+128G>A (n.8+128G>A) | gnomAD v4 |