| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44146464T>A | CA367399688 | GCK | c.*1016A>T (n.*1016A>T) c.*138A>T (n.*138A>T) n.244A>T c.1021A>T (p.Ser341Cys) c.1018A>T (p.Ser340Cys) c.1081A>T (p.Ser361Cys) c.1015A>T (p.Ser339Cys) c.967A>T (p.Ser323Cys) n.316A>T c.8+155A>T (n.8+155A>T) | gnomAD v4 |
| 7 | g.44146464T>C | CA213700 | GCK | c.*1016A>G (n.*1016A>G) c.*138A>G (n.*138A>G) n.244A>G c.1021A>G (p.Ser341Gly) c.1018A>G (p.Ser340Gly) c.1081A>G (p.Ser361Gly) c.1015A>G (p.Ser339Gly) c.967A>G (p.Ser323Gly) n.316A>G c.8+155A>G (n.8+155A>G) | ClinVar dbSNP gnomAD v4 |
| 7 | g.44146464T>G | CA367399690 | GCK | c.*1016A>C (n.*1016A>C) c.*138A>C (n.*138A>C) n.244A>C c.1021A>C (p.Ser341Arg) c.1018A>C (p.Ser340Arg) c.1081A>C (p.Ser361Arg) c.1015A>C (p.Ser339Arg) c.967A>C (p.Ser323Arg) n.316A>C c.8+155A>C (n.8+155A>C) | |
| 7 | g.44146464T= | CA1703613453 | GCK | c.*1016A= (n.*1016A=) c.*138A= (n.*138A=) n.244A= c.1021A= (p.Ser341=) c.1018A= (p.Ser340=) c.1081A= (p.Ser361=) c.1015A= (p.Ser339=) c.967A= (p.Ser323=) n.316A= c.8+155A= (n.8+155A=) | |
| 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.44146465C>A | CA367399691 | GCK | c.*1015G>T (n.*1015G>T) c.*137G>T (n.*137G>T) n.243G>T c.1020G>T (p.Glu340Asp) c.1017G>T (p.Glu339Asp) c.1080G>T (p.Glu360Asp) c.1014G>T (p.Glu338Asp) c.966G>T (p.Glu322Asp) n.315G>T c.8+154G>T (n.8+154G>T) | |
| 7 | g.44146465C= | CA1703613454 | GCK | c.*1015G= (n.*1015G=) c.*137G= (n.*137G=) n.243G= c.1020G= (p.Glu340=) c.1017G= (p.Glu339=) c.1080G= (p.Glu360=) c.1014G= (p.Glu338=) c.966G= (p.Glu322=) n.315G= c.8+154G= (n.8+154G=) | |
| 7 | g.44146465C>G | CA157914367 | GCK | c.*1015G>C (n.*1015G>C) c.*137G>C (n.*137G>C) n.243G>C c.1020G>C (p.Glu340Asp) c.1017G>C (p.Glu339Asp) c.1080G>C (p.Glu360Asp) c.1014G>C (p.Glu338Asp) c.966G>C (p.Glu322Asp) n.315G>C c.8+154G>C (n.8+154G>C) | ClinVar dbSNP |
| 7 | g.44146465C>T | CA454607710 | GCK | c.*1015G>A (n.*1015G>A) c.*137G>A (n.*137G>A) n.243G>A c.1020G>A (p.Glu340=) c.1017G>A (p.Glu339=) c.1080G>A (p.Glu360=) c.1014G>A (p.Glu338=) c.966G>A (p.Glu322=) n.315G>A c.8+154G>A (n.8+154G>A) | gnomAD v4 |
| 7 | g.44146466T>A | CA367399692 | GCK | c.*1014A>T (n.*1014A>T) c.*136A>T (n.*136A>T) n.242A>T c.1019A>T (p.Glu340Val) c.1016A>T (p.Glu339Val) c.1079A>T (p.Glu360Val) c.1013A>T (p.Glu338Val) c.965A>T (p.Glu322Val) n.314A>T c.8+153A>T (n.8+153A>T) | |
| 7 | g.44146466T>C | CA16609267 | GCK | c.*1014A>G (n.*1014A>G) c.*136A>G (n.*136A>G) n.242A>G c.1019A>G (p.Glu340Gly) c.1016A>G (p.Glu339Gly) c.1079A>G (p.Glu360Gly) c.1013A>G (p.Glu338Gly) c.965A>G (p.Glu322Gly) n.314A>G c.8+153A>G (n.8+153A>G) | ClinVar dbSNP gnomAD v2 |
| 7 | g.44146466T>G | CA367399693 | GCK | c.*1014A>C (n.*1014A>C) c.*136A>C (n.*136A>C) n.242A>C c.1019A>C (p.Glu340Ala) c.1016A>C (p.Glu339Ala) c.1079A>C (p.Glu360Ala) c.1013A>C (p.Glu338Ala) c.965A>C (p.Glu322Ala) n.314A>C c.8+153A>C (n.8+153A>C) | |
| 7 | g.44146466T= | CA1703613455 | GCK | c.*1014A= (n.*1014A=) c.*136A= (n.*136A=) n.242A= c.1019A= (p.Glu340=) c.1016A= (p.Glu339=) c.1079A= (p.Glu360=) c.1013A= (p.Glu338=) c.965A= (p.Glu322=) n.314A= c.8+153A= (n.8+153A=) | |
| 7 | g.44146467C>A | CA367399695 | GCK | c.*1013G>T (n.*1013G>T) c.*135G>T (n.*135G>T) n.241G>T c.1018G>T (p.Glu340Ter) c.1015G>T (p.Glu339Ter) c.1078G>T (p.Glu360Ter) c.1012G>T (p.Glu338Ter) c.964G>T (p.Glu322Ter) n.313G>T c.8+152G>T (n.8+152G>T) | |
| 7 | g.44146467C= | CA1703613456 | GCK | c.*1013G= (n.*1013G=) c.*135G= (n.*135G=) n.241G= c.1018G= (p.Glu340=) c.1015G= (p.Glu339=) c.1078G= (p.Glu360=) c.1012G= (p.Glu338=) c.964G= (p.Glu322=) n.313G= c.8+152G= (n.8+152G=) | |
| 7 | g.44146467C>G | CA367399697 | GCK | c.*1013G>C (n.*1013G>C) c.*135G>C (n.*135G>C) n.241G>C c.1018G>C (p.Glu340Gln) c.1015G>C (p.Glu339Gln) c.1078G>C (p.Glu360Gln) c.1012G>C (p.Glu338Gln) c.964G>C (p.Glu322Gln) n.313G>C c.8+152G>C (n.8+152G>C) | |
| 7 | g.44146467C>T | CA130526 | GCK | c.*1013G>A (n.*1013G>A) c.*135G>A (n.*135G>A) n.241G>A c.1018G>A (p.Glu340Lys) c.1015G>A (p.Glu339Lys) c.1078G>A (p.Glu360Lys) c.1012G>A (p.Glu338Lys) c.964G>A (p.Glu322Lys) n.313G>A c.8+152G>A (n.8+152G>A) | ClinVar dbSNP gnomAD v4 |
| 7 | g.44146468del | CA2695203059 | GCK | c.*1013del (n.*1013del) c.*135del (n.*135del) n.241del c.1018del (p.Glu340ArgfsTer14) c.1015del (p.Glu339ArgfsTer14) c.1078del (p.Glu360ArgfsTer14) c.1012del (p.Glu338ArgfsTer14) c.964del (p.Glu322ArgfsTer14) n.313del c.8+152del (n.8+152del) | |
| 7 | g.44146468C>A | CA454607712 | GCK | c.*1012G>T (n.*1012G>T) c.*134G>T (n.*134G>T) n.240G>T c.1017G>T (p.Val339=) c.1014G>T (p.Val338=) c.1077G>T (p.Val359=) c.1011G>T (p.Val337=) c.963G>T (p.Val321=) n.312G>T c.8+151G>T (n.8+151G>T) | |
| 7 | g.44146468C>G | CA454607714 | GCK | c.*1012G>C (n.*1012G>C) c.*134G>C (n.*134G>C) n.240G>C c.1017G>C (p.Val339=) c.1014G>C (p.Val338=) c.1077G>C (p.Val359=) c.1011G>C (p.Val337=) c.963G>C (p.Val321=) n.312G>C c.8+151G>C (n.8+151G>C) | |
| 7 | g.44146468C>T | CA454607716 | GCK | c.*1012G>A (n.*1012G>A) c.*134G>A (n.*134G>A) n.240G>A c.1017G>A (p.Val339=) c.1014G>A (p.Val338=) c.1077G>A (p.Val359=) c.1011G>A (p.Val337=) c.963G>A (p.Val321=) n.312G>A c.8+151G>A (n.8+151G>A) | ClinVar |
| 7 | g.44146469A>C | CA367399699 | GCK | c.*1011T>G (n.*1011T>G) c.*133T>G (n.*133T>G) n.239T>G c.1016T>G (p.Val339Gly) c.1013T>G (p.Val338Gly) c.1076T>G (p.Val359Gly) c.1010T>G (p.Val337Gly) c.962T>G (p.Val321Gly) n.311T>G c.8+150T>G (n.8+150T>G) | ClinVar |
| 7 | g.44146469A>G | CA367399703 | GCK | c.*1011T>C (n.*1011T>C) c.*133T>C (n.*133T>C) n.239T>C c.1016T>C (p.Val339Ala) c.1013T>C (p.Val338Ala) c.1076T>C (p.Val359Ala) c.1010T>C (p.Val337Ala) c.962T>C (p.Val321Ala) n.311T>C c.8+150T>C (n.8+150T>C) | |
| 7 | g.44146469A>T | CA367399701 | GCK | c.*1011T>A (n.*1011T>A) c.*133T>A (n.*133T>A) n.239T>A c.1016T>A (p.Val339Glu) c.1013T>A (p.Val338Glu) c.1076T>A (p.Val359Glu) c.1010T>A (p.Val337Glu) c.962T>A (p.Val321Glu) n.311T>A c.8+150T>A (n.8+150T>A) | |
| 7 | g.44146470C>A | CA367399704 | GCK | c.*1010G>T (n.*1010G>T) c.*132G>T (n.*132G>T) n.238G>T c.1015G>T (p.Val339Leu) c.1012G>T (p.Val338Leu) c.1075G>T (p.Val359Leu) c.1009G>T (p.Val337Leu) c.961G>T (p.Val321Leu) n.310G>T c.8+149G>T (n.8+149G>T) | COSMIC COSMIC COSMIC |
| 7 | g.44146470C= | CA1703613457 | GCK | c.*1010G= (n.*1010G=) c.*132G= (n.*132G=) n.238G= c.1015G= (p.Val339=) c.1012G= (p.Val338=) c.1075G= (p.Val359=) c.1009G= (p.Val337=) c.961G= (p.Val321=) n.310G= c.8+149G= (n.8+149G=) | |
| 7 | g.44146470C>G | CA367399706 | GCK | c.*1010G>C (n.*1010G>C) c.*132G>C (n.*132G>C) n.238G>C c.1015G>C (p.Val339Leu) c.1012G>C (p.Val338Leu) c.1075G>C (p.Val359Leu) c.1009G>C (p.Val337Leu) c.961G>C (p.Val321Leu) n.310G>C c.8+149G>C (n.8+149G>C) | |
| 7 | g.44146470C>T | CA367399707 | GCK | c.*1010G>A (n.*1010G>A) c.*132G>A (n.*132G>A) n.238G>A c.1015G>A (p.Val339Met) c.1012G>A (p.Val338Met) c.1075G>A (p.Val359Met) c.1009G>A (p.Val337Met) c.961G>A (p.Val321Met) n.310G>A c.8+149G>A (n.8+149G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44146471C>A | CA367399709 | GCK | c.*1009G>T (n.*1009G>T) c.*131G>T (n.*131G>T) n.237G>T c.1014G>T (p.Gln338His) c.1011G>T (p.Gln337His) c.1074G>T (p.Gln358His) c.1008G>T (p.Gln336His) c.960G>T (p.Gln320His) n.309G>T c.8+148G>T (n.8+148G>T) | gnomAD v4 COSMIC COSMIC |
| 7 | g.44146471C>G | CA367399710 | GCK | c.*1009G>C (n.*1009G>C) c.*131G>C (n.*131G>C) n.237G>C c.1014G>C (p.Gln338His) c.1011G>C (p.Gln337His) c.1074G>C (p.Gln358His) c.1008G>C (p.Gln336His) c.960G>C (p.Gln320His) n.309G>C c.8+148G>C (n.8+148G>C) | |
| 7 | g.44146471C>T | CA454607720 | GCK | c.*1009G>A (n.*1009G>A) c.*131G>A (n.*131G>A) n.237G>A c.1014G>A (p.Gln338=) c.1011G>A (p.Gln337=) c.1074G>A (p.Gln358=) c.1008G>A (p.Gln336=) c.960G>A (p.Gln320=) n.309G>A c.8+148G>A (n.8+148G>A) | gnomAD v4 |
| 7 | g.44146472del | CA2695203060 | GCK | c.*1008del (n.*1008del) c.*130del (n.*130del) n.236del c.1013del (p.Gln338ArgfsTer16) c.1010del (p.Gln337ArgfsTer16) c.1073del (p.Gln358ArgfsTer16) c.1007del (p.Gln336ArgfsTer16) c.959del (p.Gln320ArgfsTer16) n.308del c.8+147del (n.8+147del) | |
| 7 | g.44146472T>A | CA367399712 | GCK | c.*1008A>T (n.*1008A>T) c.*130A>T (n.*130A>T) n.236A>T c.1013A>T (p.Gln338Leu) c.1010A>T (p.Gln337Leu) c.1073A>T (p.Gln358Leu) c.1007A>T (p.Gln336Leu) c.959A>T (p.Gln320Leu) n.308A>T c.8+147A>T (n.8+147A>T) | gnomAD v4 |
| 7 | g.44146472T>C | CA367399715 | GCK | c.*1008A>G (n.*1008A>G) c.*130A>G (n.*130A>G) n.236A>G c.1013A>G (p.Gln338Arg) c.1010A>G (p.Gln337Arg) c.1073A>G (p.Gln358Arg) c.1007A>G (p.Gln336Arg) c.959A>G (p.Gln320Arg) n.308A>G c.8+147A>G (n.8+147A>G) | |
| 7 | g.44146472T>G | CA367399714 | GCK | c.*1008A>C (n.*1008A>C) c.*130A>C (n.*130A>C) n.236A>C c.1013A>C (p.Gln338Pro) c.1010A>C (p.Gln337Pro) c.1073A>C (p.Gln358Pro) c.1007A>C (p.Gln336Pro) c.959A>C (p.Gln320Pro) n.308A>C c.8+147A>C (n.8+147A>C) | |
| 7 | g.44146473G>A | CA367399716 | GCK | c.*1007C>T (n.*1007C>T) c.*129C>T (n.*129C>T) n.235C>T c.1012C>T (p.Gln338Ter) c.1009C>T (p.Gln337Ter) c.1072C>T (p.Gln358Ter) c.1006C>T (p.Gln336Ter) c.958C>T (p.Gln320Ter) n.307C>T c.8+146C>T (n.8+146C>T) | |
| 7 | g.44146473G>C | CA367399717 | GCK | c.*1007C>G (n.*1007C>G) c.*129C>G (n.*129C>G) n.235C>G c.1012C>G (p.Gln338Glu) c.1009C>G (p.Gln337Glu) c.1072C>G (p.Gln358Glu) c.1006C>G (p.Gln336Glu) c.958C>G (p.Gln320Glu) n.307C>G c.8+146C>G (n.8+146C>G) | |
| 7 | g.44146473G>T | CA367399719 | GCK | c.*1007C>A (n.*1007C>A) c.*129C>A (n.*129C>A) n.235C>A c.1012C>A (p.Gln338Lys) c.1009C>A (p.Gln337Lys) c.1072C>A (p.Gln358Lys) c.1006C>A (p.Gln336Lys) c.958C>A (p.Gln320Lys) n.307C>A c.8+146C>A (n.8+146C>A) | |
| 7 | g.44146474C>A | CA454607724 | GCK | c.*1006G>T (n.*1006G>T) c.*128G>T (n.*128G>T) n.234G>T c.1011G>T (p.Ser337=) c.1008G>T (p.Ser336=) c.1071G>T (p.Ser357=) c.1005G>T (p.Ser335=) c.957G>T (p.Ser319=) n.306G>T c.8+145G>T (n.8+145G>T) | |
| 7 | g.44146474C>G | CA454607725 | GCK | c.*1006G>C (n.*1006G>C) c.*128G>C (n.*128G>C) n.234G>C c.1011G>C (p.Ser337=) c.1008G>C (p.Ser336=) c.1071G>C (p.Ser357=) c.1005G>C (p.Ser335=) c.957G>C (p.Ser319=) n.306G>C c.8+145G>C (n.8+145G>C) | |
| 7 | g.44146474C>T | CA454607726 | GCK | c.*1006G>A (n.*1006G>A) c.*128G>A (n.*128G>A) n.234G>A c.1011G>A (p.Ser337=) c.1008G>A (p.Ser336=) c.1071G>A (p.Ser357=) c.1005G>A (p.Ser335=) c.957G>A (p.Ser319=) n.306G>A c.8+145G>A (n.8+145G>A) | gnomAD v4 |
| 7 | g.44146475G>A | CA367399721 | GCK | c.*1005C>T (n.*1005C>T) c.*127C>T (n.*127C>T) n.233C>T c.1010C>T (p.Ser337Leu) c.1007C>T (p.Ser336Leu) c.1070C>T (p.Ser357Leu) c.1004C>T (p.Ser335Leu) c.956C>T (p.Ser319Leu) n.305C>T c.8+144C>T (n.8+144C>T) | |
| 7 | g.44146475G>C | CA367399723 | GCK | c.*1005C>G (n.*1005C>G) c.*127C>G (n.*127C>G) n.233C>G c.1010C>G (p.Ser337Trp) c.1007C>G (p.Ser336Trp) c.1070C>G (p.Ser357Trp) c.1004C>G (p.Ser335Trp) c.956C>G (p.Ser319Trp) n.305C>G c.8+144C>G (n.8+144C>G) | |
| 7 | g.44146475G>T | CA367399724 | GCK | c.*1005C>A (n.*1005C>A) c.*127C>A (n.*127C>A) n.233C>A c.1010C>A (p.Ser337Ter) c.1007C>A (p.Ser336Ter) c.1070C>A (p.Ser357Ter) c.1004C>A (p.Ser335Ter) c.956C>A (p.Ser319Ter) n.305C>A c.8+144C>A (n.8+144C>A) | ClinVar gnomAD v4 |
| 7 | g.44146476A>C | CA367399725 | GCK | c.*1004T>G (n.*1004T>G) c.*126T>G (n.*126T>G) n.232T>G c.1009T>G (p.Ser337Ala) c.1006T>G (p.Ser336Ala) c.1069T>G (p.Ser357Ala) c.1003T>G (p.Ser335Ala) c.955T>G (p.Ser319Ala) n.304T>G c.8+143T>G (n.8+143T>G) | |
| 7 | g.44146476A>G | CA367399727 | GCK | c.*1004T>C (n.*1004T>C) c.*126T>C (n.*126T>C) n.232T>C c.1009T>C (p.Ser337Pro) c.1006T>C (p.Ser336Pro) c.1069T>C (p.Ser357Pro) c.1003T>C (p.Ser335Pro) c.955T>C (p.Ser319Pro) n.304T>C c.8+143T>C (n.8+143T>C) | |
| 7 | g.44146476A>T | CA367399729 | GCK | c.*1004T>A (n.*1004T>A) c.*126T>A (n.*126T>A) n.232T>A c.1009T>A (p.Ser337Thr) c.1006T>A (p.Ser336Thr) c.1069T>A (p.Ser357Thr) c.1003T>A (p.Ser335Thr) c.955T>A (p.Ser319Thr) n.304T>A c.8+143T>A (n.8+143T>A) | |
| 7 | g.44146477C>A | CA454607731 | GCK | c.*1003G>T (n.*1003G>T) c.*125G>T (n.*125G>T) n.231G>T c.1008G>T (p.Val336=) c.1005G>T (p.Val335=) c.1068G>T (p.Val356=) c.1002G>T (p.Val334=) c.954G>T (p.Val318=) n.303G>T c.8+142G>T (n.8+142G>T) | |
| 7 | g.44146477C>G | CA454607734 | GCK | c.*1003G>C (n.*1003G>C) c.*125G>C (n.*125G>C) n.231G>C c.1008G>C (p.Val336=) c.1005G>C (p.Val335=) c.1068G>C (p.Val356=) c.1002G>C (p.Val334=) c.954G>C (p.Val318=) n.303G>C c.8+142G>C (n.8+142G>C) | |
| 7 | g.44146477C>T | CA454607733 | GCK | c.*1003G>A (n.*1003G>A) c.*125G>A (n.*125G>A) n.231G>A c.1008G>A (p.Val336=) c.1005G>A (p.Val335=) c.1068G>A (p.Val356=) c.1002G>A (p.Val334=) c.954G>A (p.Val318=) n.303G>A c.8+142G>A (n.8+142G>A) |