| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44147702_44147809del | CA2695203087 | GCK | c.*707_*814del (n.*707_*814del) c.709_816del (p.Glu237_Glu272del) c.712_819del (p.Glu238_Glu273del) c.706_813del (p.Glu236_Glu271del) c.658_765del (p.Glu220_Glu255del) n.36_82+61del | |
| 7 | g.44147791_44147805del | CA2695203117 | GCK | c.*710_*724del (n.*710_*724del) c.712_726del (p.Met238_Glu242del) c.715_729del (p.Met239_Glu243del) c.709_723del (p.Met237_Glu241del) c.661_675del (p.Met221_Glu225del) n.82+43_82+57del | |
| 7 | g.44147789C>A | CA367400690 | GCK | c.*722G>T (n.*722G>T) c.724G>T (p.Glu242Ter) c.727G>T (p.Glu243Ter) c.721G>T (p.Glu241Ter) c.673G>T (p.Glu225Ter) n.82+41C>A | |
| 7 | g.44147789C>G | CA367400691 | GCK | c.*722G>C (n.*722G>C) c.724G>C (p.Glu242Gln) c.727G>C (p.Glu243Gln) c.721G>C (p.Glu241Gln) c.673G>C (p.Glu225Gln) n.82+41C>G | |
| 7 | g.44147789C>T | CA367400692 | GCK | c.*722G>A (n.*722G>A) c.724G>A (p.Glu242Lys) c.727G>A (p.Glu243Lys) c.721G>A (p.Glu241Lys) c.673G>A (p.Glu225Lys) n.82+41C>T | |
| 7 | g.44147790C>A | CA454608744 | GCK | c.*721G>T (n.*721G>T) c.723G>T (p.Val241=) c.726G>T (p.Val242=) c.720G>T (p.Val240=) c.672G>T (p.Val224=) n.82+42C>A | |
| 7 | g.44147790C= | CA1703634943 | GCK | c.*721G= (n.*721G=) c.723G= (p.Val241=) c.726G= (p.Val242=) c.720G= (p.Val240=) c.672G= (p.Val224=) n.82+42C= | |
| 7 | g.44147790C>G | CA454608743 | GCK | c.*721G>C (n.*721G>C) c.723G>C (p.Val241=) c.726G>C (p.Val242=) c.720G>C (p.Val240=) c.672G>C (p.Val224=) n.82+42C>G | |
| 7 | g.44147790C>T | CA213836 | GCK | c.*721G>A (n.*721G>A) c.723G>A (p.Val241=) c.726G>A (p.Val242=) c.720G>A (p.Val240=) c.672G>A (p.Val224=) n.82+42C>T | ClinVar dbSNP |
| 7 | g.44147791A>C | CA367400693 | GCK | c.*720T>G (n.*720T>G) c.722T>G (p.Val241Gly) c.725T>G (p.Val242Gly) c.719T>G (p.Val240Gly) c.671T>G (p.Val224Gly) n.82+43A>C | |
| 7 | g.44147791A>G | CA367400694 | GCK | c.*720T>C (n.*720T>C) c.722T>C (p.Val241Ala) c.725T>C (p.Val242Ala) c.719T>C (p.Val240Ala) c.671T>C (p.Val224Ala) n.82+43A>G | |
| 7 | g.44147791A>T | CA367400695 | GCK | c.*720T>A (n.*720T>A) c.722T>A (p.Val241Glu) c.725T>A (p.Val242Glu) c.719T>A (p.Val240Glu) c.671T>A (p.Val224Glu) n.82+43A>T | |
| 7 | g.44147792C>A | CA367400698 | GCK | c.*719G>T (n.*719G>T) c.721G>T (p.Val241Leu) c.724G>T (p.Val242Leu) c.718G>T (p.Val240Leu) c.670G>T (p.Val224Leu) n.82+44C>A | |
| 7 | g.44147792C>G | CA367400697 | GCK | c.*719G>C (n.*719G>C) c.721G>C (p.Val241Leu) c.724G>C (p.Val242Leu) c.718G>C (p.Val240Leu) c.670G>C (p.Val224Leu) n.82+44C>G | |
| 7 | g.44147792C>T | CA367400696 | GCK | c.*719G>A (n.*719G>A) c.721G>A (p.Val241Met) c.724G>A (p.Val242Met) c.718G>A (p.Val240Met) c.670G>A (p.Val224Met) n.82+44C>T | |
| 7 | g.44147793A= | CA1703634944 | GCK | c.*718T= (n.*718T=) c.720T= (p.Asn240=) c.723T= (p.Asn241=) c.717T= (p.Asn239=) c.669T= (p.Asn223=) n.82+45A= | |
| 7 | g.44147793A>C | CA367400699 | GCK | c.*718T>G (n.*718T>G) c.720T>G (p.Asn240Lys) c.723T>G (p.Asn241Lys) c.717T>G (p.Asn239Lys) c.669T>G (p.Asn223Lys) n.82+45A>C | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44147793A>G | CA454608745 | GCK | c.*718T>C (n.*718T>C) c.720T>C (p.Asn240=) c.723T>C (p.Asn241=) c.717T>C (p.Asn239=) c.669T>C (p.Asn223=) n.82+45A>G | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.44147793A>T | CA367400700 | GCK | c.*718T>A (n.*718T>A) c.720T>A (p.Asn240Lys) c.723T>A (p.Asn241Lys) c.717T>A (p.Asn239Lys) c.669T>A (p.Asn223Lys) n.82+45A>T | |
| 7 | g.44147794T>A | CA367400701 | GCK | c.*717A>T (n.*717A>T) c.719A>T (p.Asn240Ile) c.722A>T (p.Asn241Ile) c.716A>T (p.Asn239Ile) c.668A>T (p.Asn223Ile) n.82+46T>A | |
| 7 | g.44147794T>C | CA367400702 | GCK | c.*717A>G (n.*717A>G) c.719A>G (p.Asn240Ser) c.722A>G (p.Asn241Ser) c.716A>G (p.Asn239Ser) c.668A>G (p.Asn223Ser) n.82+46T>C | |
| 7 | g.44147794T>G | CA367400703 | GCK | c.*717A>C (n.*717A>C) c.719A>C (p.Asn240Thr) c.722A>C (p.Asn241Thr) c.716A>C (p.Asn239Thr) c.668A>C (p.Asn223Thr) n.82+46T>G | ClinVar |
| 7 | g.44147795T>A | CA367400704 | GCK | c.*716A>T (n.*716A>T) c.718A>T (p.Asn240Tyr) c.721A>T (p.Asn241Tyr) c.715A>T (p.Asn239Tyr) c.667A>T (p.Asn223Tyr) n.82+47T>A | |
| 7 | g.44147795T>C | CA367400705 | GCK | c.*716A>G (n.*716A>G) c.718A>G (p.Asn240Asp) c.721A>G (p.Asn241Asp) c.715A>G (p.Asn239Asp) c.667A>G (p.Asn223Asp) n.82+47T>C | ClinVar dbSNP |
| 7 | g.44147795T>G | CA367400706 | GCK | c.*716A>C (n.*716A>C) c.718A>C (p.Asn240His) c.721A>C (p.Asn241His) c.715A>C (p.Asn239His) c.667A>C (p.Asn223His) n.82+47T>G | |
| 7 | g.44147795T= | CA1703634945 | GCK | c.*716A= (n.*716A=) c.718A= (p.Asn240=) c.721A= (p.Asn241=) c.715A= (p.Asn239=) c.667A= (p.Asn223=) n.82+47T= | |
| 7 | g.44147796C>A | CA367400707 | GCK | c.*715G>T (n.*715G>T) c.717G>T (p.Gln239His) c.720G>T (p.Gln240His) c.714G>T (p.Gln238His) c.666G>T (p.Gln222His) n.82+48C>A | |
| 7 | g.44147796C>G | CA367400708 | GCK | c.*715G>C (n.*715G>C) c.717G>C (p.Gln239His) c.720G>C (p.Gln240His) c.714G>C (p.Gln238His) c.666G>C (p.Gln222His) n.82+48C>G | ClinVar dbSNP |
| 7 | g.44147796C>T | CA454608746 | GCK | c.*715G>A (n.*715G>A) c.717G>A (p.Gln239=) c.720G>A (p.Gln240=) c.714G>A (p.Gln238=) c.666G>A (p.Gln222=) n.82+48C>T | |
| 7 | g.44147797T>A | CA367400709 | GCK | c.*714A>T (n.*714A>T) c.716A>T (p.Gln239Leu) c.719A>T (p.Gln240Leu) c.713A>T (p.Gln238Leu) c.665A>T (p.Gln222Leu) n.82+49T>A | |
| 7 | g.44147797T>C | CA4239535 | GCK | c.*714A>G (n.*714A>G) c.716A>G (p.Gln239Arg) c.719A>G (p.Gln240Arg) c.713A>G (p.Gln238Arg) c.665A>G (p.Gln222Arg) n.82+49T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44147797T>G | CA367400710 | GCK | c.*714A>C (n.*714A>C) c.716A>C (p.Gln239Pro) c.719A>C (p.Gln240Pro) c.713A>C (p.Gln238Pro) c.665A>C (p.Gln222Pro) n.82+49T>G | |
| 7 | g.44147797T= | CA1703634946 | GCK | c.*714A= (n.*714A=) c.716A= (p.Gln239=) c.719A= (p.Gln240=) c.713A= (p.Gln238=) c.665A= (p.Gln222=) n.82+49T= | |
| 7 | g.44147798G>A | CA367400712 | GCK | c.*713C>T (n.*713C>T) c.715C>T (p.Gln239Ter) c.718C>T (p.Gln240Ter) c.712C>T (p.Gln238Ter) c.664C>T (p.Gln222Ter) n.82+50G>A | ClinVar |
| 7 | g.44147798G>C | CA367400713 | GCK | c.*713C>G (n.*713C>G) c.715C>G (p.Gln239Glu) c.718C>G (p.Gln240Glu) c.712C>G (p.Gln238Glu) c.664C>G (p.Gln222Glu) n.82+50G>C | gnomAD v4 |
| 7 | g.44147798G= | CA1703634947 | GCK | c.*713C= (n.*713C=) c.715C= (p.Gln239=) c.718C= (p.Gln240=) c.712C= (p.Gln238=) c.664C= (p.Gln222=) n.82+50G= | |
| 7 | g.44147798G>T | CA367400711 | GCK | c.*713C>A (n.*713C>A) c.715C>A (p.Gln239Lys) c.718C>A (p.Gln240Lys) c.712C>A (p.Gln238Lys) c.664C>A (p.Gln222Lys) n.82+50G>T | dbSNP |
| 7 | g.44147799C>A | CA367400714 | GCK | c.*712G>T (n.*712G>T) c.714G>T (p.Met238Ile) c.717G>T (p.Met239Ile) c.711G>T (p.Met237Ile) c.663G>T (p.Met221Ile) n.82+51C>A | |
| 7 | g.44147799C>G | CA367400715 | GCK | c.*712G>C (n.*712G>C) c.714G>C (p.Met238Ile) c.717G>C (p.Met239Ile) c.711G>C (p.Met237Ile) c.663G>C (p.Met221Ile) n.82+51C>G | |
| 7 | g.44147799C>T | CA367400716 | GCK | c.*712G>A (n.*712G>A) c.714G>A (p.Met238Ile) c.717G>A (p.Met239Ile) c.711G>A (p.Met237Ile) c.663G>A (p.Met221Ile) n.82+51C>T | |
| 7 | g.44147800del | CA2695203118 | GCK | c.*711del (n.*711del) c.713del (p.Met238SerfsTer?) c.716del (p.Met239SerfsTer?) c.710del (p.Met237SerfsTer?) c.662del (p.Met221SerfsTer?) n.82+52del | |
| 7 | g.44147800A>C | CA367400717 | GCK | c.*711T>G (n.*711T>G) c.713T>G (p.Met238Arg) c.716T>G (p.Met239Arg) c.710T>G (p.Met237Arg) c.662T>G (p.Met221Arg) n.82+52A>C | |
| 7 | g.44147800A>G | CA367400718 | GCK | c.*711T>C (n.*711T>C) c.713T>C (p.Met238Thr) c.716T>C (p.Met239Thr) c.710T>C (p.Met237Thr) c.662T>C (p.Met221Thr) n.82+52A>G | gnomAD v4 |
| 7 | g.44147800A>T | CA367400719 | GCK | c.*711T>A (n.*711T>A) c.713T>A (p.Met238Lys) c.716T>A (p.Met239Lys) c.710T>A (p.Met237Lys) c.662T>A (p.Met221Lys) n.82+52A>T | |
| 7 | g.44147801T>A | CA367400720 | GCK | c.*710A>T (n.*710A>T) c.712A>T (p.Met238Leu) c.715A>T (p.Met239Leu) c.709A>T (p.Met237Leu) c.661A>T (p.Met221Leu) n.82+53T>A | |
| 7 | g.44147801T>C | CA367400721 | GCK | c.*710A>G (n.*710A>G) c.712A>G (p.Met238Val) c.715A>G (p.Met239Val) c.709A>G (p.Met237Val) c.661A>G (p.Met221Val) n.82+53T>C | |
| 7 | g.44147801T>G | CA367400722 | GCK | c.*710A>C (n.*710A>C) c.712A>C (p.Met238Leu) c.715A>C (p.Met239Leu) c.709A>C (p.Met237Leu) c.661A>C (p.Met221Leu) n.82+53T>G | |
| 7 | g.44147802C>A | CA367400723 | GCK | c.*709G>T (n.*709G>T) c.711G>T (p.Glu237Asp) c.714G>T (p.Glu238Asp) c.708G>T (p.Glu236Asp) c.660G>T (p.Glu220Asp) n.82+54C>A | |
| 7 | g.44147802C= | CA1703634949 | GCK | c.*709G= (n.*709G=) c.711G= (p.Glu237=) c.714G= (p.Glu238=) c.708G= (p.Glu236=) c.660G= (p.Glu220=) n.82+54C= | |
| 7 | g.44147802C>G | CA367400724 | GCK | c.*709G>C (n.*709G>C) c.711G>C (p.Glu237Asp) c.714G>C (p.Glu238Asp) c.708G>C (p.Glu236Asp) c.660G>C (p.Glu220Asp) n.82+54C>G | |
| 7 | g.44147802C>T | CA4239536 | GCK | c.*709G>A (n.*709G>A) c.711G>A (p.Glu237=) c.714G>A (p.Glu238=) c.708G>A (p.Glu236=) c.660G>A (p.Glu220=) n.82+54C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44147802_44147803delinsCT | CA1703634948 | GCK | c.*708_*709delinsAG (n.*708_*709delinsAG) c.710_711delinsAG (p.Glu237=) c.713_714delinsAG (p.Glu238=) c.707_708delinsAG (p.Glu236=) c.659_660delinsAG (p.Glu220=) n.82+54_82+55delinsCT | |
| 7 | g.44147803del | CA4239537 | GCK | c.*708del (n.*708del) c.710del (p.Glu237GlyfsTer?) c.713del (p.Glu238GlyfsTer?) c.707del (p.Glu236GlyfsTer?) c.659del (p.Glu220GlyfsTer?) n.82+55del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44147803T>A | CA367400727 | GCK | c.*708A>T (n.*708A>T) c.710A>T (p.Glu237Val) c.713A>T (p.Glu238Val) c.707A>T (p.Glu236Val) c.659A>T (p.Glu220Val) n.82+55T>A | ClinVar |
| 7 | g.44147803T>C | CA367400726 | GCK | c.*708A>G (n.*708A>G) c.710A>G (p.Glu237Gly) c.713A>G (p.Glu238Gly) c.707A>G (p.Glu236Gly) c.659A>G (p.Glu220Gly) n.82+55T>C | |
| 7 | g.44147803T>G | CA367400725 | GCK | c.*708A>C (n.*708A>C) c.710A>C (p.Glu237Ala) c.713A>C (p.Glu238Ala) c.707A>C (p.Glu236Ala) c.659A>C (p.Glu220Ala) n.82+55T>G | |
| 7 | g.44147804C>A | CA367400728 | GCK | c.*707G>T (n.*707G>T) c.709G>T (p.Glu237Ter) c.712G>T (p.Glu238Ter) c.706G>T (p.Glu236Ter) c.658G>T (p.Glu220Ter) n.82+56C>A | |
| 7 | g.44147804C= | CA1703634950 | GCK | c.*707G= (n.*707G=) c.709G= (p.Glu237=) c.712G= (p.Glu238=) c.706G= (p.Glu236=) c.658G= (p.Glu220=) n.82+56C= | |
| 7 | g.44147804C>G | CA367400729 | GCK | c.*707G>C (n.*707G>C) c.709G>C (p.Glu237Gln) c.712G>C (p.Glu238Gln) c.706G>C (p.Glu236Gln) c.658G>C (p.Glu220Gln) n.82+56C>G | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.44147804C>T | CA367400730 | GCK | c.*707G>A (n.*707G>A) c.709G>A (p.Glu237Lys) c.712G>A (p.Glu238Lys) c.706G>A (p.Glu236Lys) c.658G>A (p.Glu220Lys) n.82+56C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44147805dup | CA2695203121 | GCK | c.*707dup (n.*707dup) c.709dup (p.Glu237GlyfsTer?) c.712dup (p.Glu238GlyfsTer?) c.706dup (p.Glu236GlyfsTer?) c.658dup (p.Glu220GlyfsTer?) n.82+57dup | |
| 7 | g.44147805C>A | CA367400731 | GCK | c.*706G>T (n.*706G>T) c.708G>T (p.Glu236Asp) c.711G>T (p.Glu237Asp) c.705G>T (p.Glu235Asp) c.657G>T (p.Glu219Asp) n.82+57C>A | |
| 7 | g.44147805C>G | CA367400732 | GCK | c.*706G>C (n.*706G>C) c.708G>C (p.Glu236Asp) c.711G>C (p.Glu237Asp) c.705G>C (p.Glu235Asp) c.657G>C (p.Glu219Asp) n.82+57C>G | |
| 7 | g.44147805C>T | CA454608750 | GCK | c.*706G>A (n.*706G>A) c.708G>A (p.Glu236=) c.711G>A (p.Glu237=) c.705G>A (p.Glu235=) c.657G>A (p.Glu219=) n.82+57C>T | |
| 7 | g.44147806T>A | CA367400733 | GCK | c.*705A>T (n.*705A>T) c.707A>T (p.Glu236Val) c.710A>T (p.Glu237Val) c.704A>T (p.Glu235Val) c.656A>T (p.Glu219Val) n.82+58T>A | ClinVar |
| 7 | g.44147806T>C | CA367400734 | GCK | c.*705A>G (n.*705A>G) c.707A>G (p.Glu236Gly) c.710A>G (p.Glu237Gly) c.704A>G (p.Glu235Gly) c.656A>G (p.Glu219Gly) n.82+58T>C | |
| 7 | g.44147806T>G | CA367400735 | GCK | c.*705A>C (n.*705A>C) c.707A>C (p.Glu236Ala) c.710A>C (p.Glu237Ala) c.704A>C (p.Glu235Ala) c.656A>C (p.Glu219Ala) n.82+58T>G | |
| 7 | g.44147807C>A | CA367400736 | GCK | c.*704G>T (n.*704G>T) c.706G>T (p.Glu236Ter) c.709G>T (p.Glu237Ter) c.703G>T (p.Glu235Ter) c.655G>T (p.Glu219Ter) n.82+59C>A | |
| 7 | g.44147807C= | CA1703634951 | GCK | c.*704G= (n.*704G=) c.706G= (p.Glu236=) c.709G= (p.Glu237=) c.703G= (p.Glu235=) c.655G= (p.Glu219=) n.82+59C= | |
| 7 | g.44147807C>G | CA367400737 | GCK | c.*704G>C (n.*704G>C) c.706G>C (p.Glu236Gln) c.709G>C (p.Glu237Gln) c.703G>C (p.Glu235Gln) c.655G>C (p.Glu219Gln) n.82+59C>G | |
| 7 | g.44147807C>T | CA152959 | GCK | c.*704G>A (n.*704G>A) c.706G>A (p.Glu236Lys) c.709G>A (p.Glu237Lys) c.703G>A (p.Glu235Lys) c.655G>A (p.Glu219Lys) n.82+59C>T | ClinVar dbSNP |
| 7 | g.44147808C>A | CA367400739 | GCK | c.*703G>T (n.*703G>T) c.705G>T (p.Met235Ile) c.708G>T (p.Met236Ile) c.702G>T (p.Met234Ile) c.654G>T (p.Met218Ile) n.82+60C>A | |
| 7 | g.44147808C>G | CA367400740 | GCK | c.*703G>C (n.*703G>C) c.705G>C (p.Met235Ile) c.708G>C (p.Met236Ile) c.702G>C (p.Met234Ile) c.654G>C (p.Met218Ile) n.82+60C>G | |
| 7 | g.44147808C>T | CA367400738 | GCK | c.*703G>A (n.*703G>A) c.705G>A (p.Met235Ile) c.708G>A (p.Met236Ile) c.702G>A (p.Met234Ile) c.654G>A (p.Met218Ile) n.82+60C>T | |
| 7 | g.44147809A= | CA1703634952 | GCK | c.*702T= (n.*702T=) c.704T= (p.Met235=) c.707T= (p.Met236=) c.701T= (p.Met234=) c.653T= (p.Met218=) n.82+61A= | |
| 7 | g.44147809A>C | CA367400741 | GCK | c.*702T>G (n.*702T>G) c.704T>G (p.Met235Arg) c.707T>G (p.Met236Arg) c.701T>G (p.Met234Arg) c.653T>G (p.Met218Arg) n.82+61A>C | |
| 7 | g.44147809A>G | CA213834 | GCK | c.*702T>C (n.*702T>C) c.704T>C (p.Met235Thr) c.707T>C (p.Met236Thr) c.701T>C (p.Met234Thr) c.653T>C (p.Met218Thr) n.82+61A>G | ClinVar dbSNP gnomAD v4 |
| 7 | g.44147809A>T | CA367400742 | GCK | c.*702T>A (n.*702T>A) c.704T>A (p.Met235Lys) c.707T>A (p.Met236Lys) c.701T>A (p.Met234Lys) c.653T>A (p.Met218Lys) n.82+61A>T | |
| 7 | g.44147810T>A | CA367400743 | GCK | c.*701A>T (n.*701A>T) c.703A>T (p.Met235Leu) c.706A>T (p.Met236Leu) c.700A>T (p.Met234Leu) c.652A>T (p.Met218Leu) n.82+62T>A | gnomAD v4 |
| 7 | g.44147810T>C | CA16605219 | GCK | c.*701A>G (n.*701A>G) c.703A>G (p.Met235Val) c.706A>G (p.Met236Val) c.700A>G (p.Met234Val) c.652A>G (p.Met218Val) n.82+62T>C | ClinVar dbSNP |
| 7 | g.44147810T>G | CA367400744 | GCK | c.*701A>C (n.*701A>C) c.703A>C (p.Met235Leu) c.706A>C (p.Met236Leu) c.700A>C (p.Met234Leu) c.652A>C (p.Met218Leu) n.82+62T>G | |
| 7 | g.44147810T= | CA1703634953 | GCK | c.*701A= (n.*701A=) c.703A= (p.Met235=) c.706A= (p.Met236=) c.700A= (p.Met234=) c.652A= (p.Met218=) n.82+62T= | |
| 7 | g.44147811G>A | CA454608757 | GCK | c.*700C>T (n.*700C>T) c.702C>T (p.Tyr234=) c.705C>T (p.Tyr235=) c.699C>T (p.Tyr233=) c.651C>T (p.Tyr217=) n.82+63G>A | |
| 7 | g.44147811G>C | CA367400745 | GCK | c.*700C>G (n.*700C>G) c.702C>G (p.Tyr234Ter) c.705C>G (p.Tyr235Ter) c.699C>G (p.Tyr233Ter) c.651C>G (p.Tyr217Ter) n.82+63G>C | |
| 7 | g.44147811G>T | CA367400746 | GCK | c.*700C>A (n.*700C>A) c.702C>A (p.Tyr234Ter) c.705C>A (p.Tyr235Ter) c.699C>A (p.Tyr233Ter) c.651C>A (p.Tyr217Ter) n.82+63G>T | |
| 7 | g.44147812T>A | CA367400747 | GCK | c.*699A>T (n.*699A>T) c.701A>T (p.Tyr234Phe) c.704A>T (p.Tyr235Phe) c.698A>T (p.Tyr233Phe) c.650A>T (p.Tyr217Phe) n.82+64T>A | |
| 7 | g.44147812T>C | CA367400748 | GCK | c.*699A>G (n.*699A>G) c.701A>G (p.Tyr234Cys) c.704A>G (p.Tyr235Cys) c.698A>G (p.Tyr233Cys) c.650A>G (p.Tyr217Cys) n.82+64T>C | ClinVar dbSNP |
| 7 | g.44147812T>G | CA367400749 | GCK | c.*699A>C (n.*699A>C) c.701A>C (p.Tyr234Ser) c.704A>C (p.Tyr235Ser) c.698A>C (p.Tyr233Ser) c.650A>C (p.Tyr217Ser) n.82+64T>G | |
| 7 | g.44147812T= | CA1703634954 | GCK | c.*699A= (n.*699A=) c.701A= (p.Tyr234=) c.704A= (p.Tyr235=) c.698A= (p.Tyr233=) c.650A= (p.Tyr217=) n.82+64T= | |
| 7 | g.44147813A>C | CA367400750 | GCK | c.*698T>G (n.*698T>G) c.700T>G (p.Tyr234Asp) c.703T>G (p.Tyr235Asp) c.697T>G (p.Tyr233Asp) c.649T>G (p.Tyr217Asp) n.82+65A>C | |
| 7 | g.44147813A>G | CA367400751 | GCK | c.*698T>C (n.*698T>C) c.700T>C (p.Tyr234His) c.703T>C (p.Tyr235His) c.697T>C (p.Tyr233His) c.649T>C (p.Tyr217His) n.82+65A>G | |
| 7 | g.44147813A>T | CA367400752 | GCK | c.*698T>A (n.*698T>A) c.700T>A (p.Tyr234Asn) c.703T>A (p.Tyr235Asn) c.697T>A (p.Tyr233Asn) c.649T>A (p.Tyr217Asn) n.82+65A>T | |
| 7 | g.44147815_44147817del | CA2697557250 | GCK | c.*696_*698del (n.*696_*698del) c.698_700del (p.Cys233del) c.701_703del (p.Cys234del) c.695_697del (p.Cys232del) c.647_649del (p.Cys216del) n.82+67_82+69del | ClinVar |
| 7 | g.44147814G>A | CA454608759 | GCK | c.*697C>T (n.*697C>T) c.699C>T (p.Cys233=) c.702C>T (p.Cys234=) c.696C>T (p.Cys232=) c.648C>T (p.Cys216=) n.82+66G>A | |
| 7 | g.44147814G>C | CA367400754 | GCK | c.*697C>G (n.*697C>G) c.699C>G (p.Cys233Trp) c.702C>G (p.Cys234Trp) c.696C>G (p.Cys232Trp) c.648C>G (p.Cys216Trp) n.82+66G>C | |
| 7 | g.44147814G>T | CA367400753 | GCK | c.*697C>A (n.*697C>A) c.699C>A (p.Cys233Ter) c.702C>A (p.Cys234Ter) c.696C>A (p.Cys232Ter) c.648C>A (p.Cys216Ter) n.82+66G>T | |
| 7 | g.44147815C>A | CA367400755 | GCK | c.*696G>T (n.*696G>T) c.698G>T (p.Cys233Phe) c.701G>T (p.Cys234Phe) c.695G>T (p.Cys232Phe) c.647G>T (p.Cys216Phe) n.82+67C>A | |
| 7 | g.44147815C>G | CA367400756 | GCK | c.*696G>C (n.*696G>C) c.698G>C (p.Cys233Ser) c.701G>C (p.Cys234Ser) c.695G>C (p.Cys232Ser) c.647G>C (p.Cys216Ser) n.82+67C>G | |
| 7 | g.44147815C>T | CA367400757 | GCK | c.*696G>A (n.*696G>A) c.698G>A (p.Cys233Tyr) c.701G>A (p.Cys234Tyr) c.695G>A (p.Cys232Tyr) c.647G>A (p.Cys216Tyr) n.82+67C>T | |
| 7 | g.44147816A>C | CA367400758 | GCK | c.*695T>G (n.*695T>G) c.697T>G (p.Cys233Gly) c.700T>G (p.Cys234Gly) c.694T>G (p.Cys232Gly) c.646T>G (p.Cys216Gly) n.82+68A>C | |
| 7 | g.44147816A>G | CA367400759 | GCK | c.*695T>C (n.*695T>C) c.697T>C (p.Cys233Arg) c.700T>C (p.Cys234Arg) c.694T>C (p.Cys232Arg) c.646T>C (p.Cys216Arg) n.82+68A>G | gnomAD v4 |
| 7 | g.44147816A>T | CA367400760 | GCK | c.*695T>A (n.*695T>A) c.697T>A (p.Cys233Ser) c.700T>A (p.Cys234Ser) c.694T>A (p.Cys232Ser) c.646T>A (p.Cys216Ser) n.82+68A>T | |
| 7 | g.44147817G>A | CA454608760 | GCK | c.*694C>T (n.*694C>T) c.696C>T (p.Ala232=) c.699C>T (p.Ala233=) c.693C>T (p.Ala231=) c.645C>T (p.Ala215=) n.82+69G>A | gnomAD v4 |
| 7 | g.44147817G>C | CA454608761 | GCK | c.*694C>G (n.*694C>G) c.696C>G (p.Ala232=) c.699C>G (p.Ala233=) c.693C>G (p.Ala231=) c.645C>G (p.Ala215=) n.82+69G>C | |
| 7 | g.44147817G>T | CA454608763 | GCK | c.*694C>A (n.*694C>A) c.696C>A (p.Ala232=) c.699C>A (p.Ala233=) c.693C>A (p.Ala231=) c.645C>A (p.Ala215=) n.82+69G>T | |
| 7 | g.44147818G>A | CA367400763 | GCK | c.*693C>T (n.*693C>T) c.695C>T (p.Ala232Val) c.698C>T (p.Ala233Val) c.692C>T (p.Ala231Val) c.644C>T (p.Ala215Val) n.82+70G>A | |
| 7 | g.44147818G>C | CA367400761 | GCK | c.*693C>G (n.*693C>G) c.695C>G (p.Ala232Gly) c.698C>G (p.Ala233Gly) c.692C>G (p.Ala231Gly) c.644C>G (p.Ala215Gly) n.82+70G>C | |
| 7 | g.44147818G>T | CA367400762 | GCK | c.*693C>A (n.*693C>A) c.695C>A (p.Ala232Asp) c.698C>A (p.Ala233Asp) c.692C>A (p.Ala231Asp) c.644C>A (p.Ala215Asp) n.82+70G>T | ClinVar |
| 7 | g.44147819del | CA2557114098 | GCK | c.*692del (n.*692del) c.694del (p.Ala232ProfsTer?) c.697del (p.Ala233ProfsTer?) c.691del (p.Ala231ProfsTer?) c.643del (p.Ala215ProfsTer?) n.82+71del | |
| 7 | g.44147819C>A | CA367400764 | GCK | c.*692G>T (n.*692G>T) c.694G>T (p.Ala232Ser) c.697G>T (p.Ala233Ser) c.691G>T (p.Ala231Ser) c.643G>T (p.Ala215Ser) n.82+71C>A | |
| 7 | g.44147819C= | CA1703634955 | GCK | c.*692G= (n.*692G=) c.694G= (p.Ala232=) c.697G= (p.Ala233=) c.691G= (p.Ala231=) c.643G= (p.Ala215=) n.82+71C= | |
| 7 | g.44147819C>G | CA367400765 | GCK | c.*692G>C (n.*692G>C) c.694G>C (p.Ala232Pro) c.697G>C (p.Ala233Pro) c.691G>C (p.Ala231Pro) c.643G>C (p.Ala215Pro) n.82+71C>G | |
| 7 | g.44147819C>T | CA213832 | GCK | c.*692G>A (n.*692G>A) c.694G>A (p.Ala232Thr) c.697G>A (p.Ala233Thr) c.691G>A (p.Ala231Thr) c.643G>A (p.Ala215Thr) n.82+71C>T | ClinVar dbSNP |
| 7 | g.44147820A>C | CA367400766 | GCK | c.*691T>G (n.*691T>G) c.693T>G (p.Asn231Lys) c.696T>G (p.Asn232Lys) c.690T>G (p.Asn230Lys) c.642T>G (p.Asn214Lys) n.82+72A>C | |
| 7 | g.44147820A>G | CA454608764 | GCK | c.*691T>C (n.*691T>C) c.693T>C (p.Asn231=) c.696T>C (p.Asn232=) c.690T>C (p.Asn230=) c.642T>C (p.Asn214=) n.82+72A>G | |
| 7 | g.44147820A>T | CA367400767 | GCK | c.*691T>A (n.*691T>A) c.693T>A (p.Asn231Lys) c.696T>A (p.Asn232Lys) c.690T>A (p.Asn230Lys) c.642T>A (p.Asn214Lys) n.82+72A>T | |
| 7 | g.44147821T>A | CA367400768 | GCK | c.*690A>T (n.*690A>T) c.692A>T (p.Asn231Ile) c.695A>T (p.Asn232Ile) c.689A>T (p.Asn230Ile) c.641A>T (p.Asn214Ile) n.82+73T>A | ClinVar |
| 7 | g.44147821T>C | CA367400770 | GCK | c.*690A>G (n.*690A>G) c.692A>G (p.Asn231Ser) c.695A>G (p.Asn232Ser) c.689A>G (p.Asn230Ser) c.641A>G (p.Asn214Ser) n.82+73T>C | |
| 7 | g.44147821T>G | CA367400769 | GCK | c.*690A>C (n.*690A>C) c.692A>C (p.Asn231Thr) c.695A>C (p.Asn232Thr) c.689A>C (p.Asn230Thr) c.641A>C (p.Asn214Thr) n.82+73T>G | |
| 7 | g.44147822del | CA2695203123 | GCK | c.*690del (n.*690del) c.692del (p.Asn231MetfsTer?) c.695del (p.Asn232MetfsTer?) c.689del (p.Asn230MetfsTer?) c.641del (p.Asn214MetfsTer?) n.82+74del | |
| 7 | g.44147821_44147822insG | CA2572688352 | GCK | c.*689_*690insC (n.*689_*690insC) c.691_692insC (p.Asn231ThrfsTer?) c.694_695insC (p.Asn232ThrfsTer?) c.688_689insC (p.Asn230ThrfsTer?) c.640_641insC (p.Asn214ThrfsTer?) n.82+73_82+74insG | |
| 7 | g.44147822T>A | CA367400771 | GCK | c.*689A>T (n.*689A>T) c.691A>T (p.Asn231Tyr) c.694A>T (p.Asn232Tyr) c.688A>T (p.Asn230Tyr) c.640A>T (p.Asn214Tyr) n.82+74T>A | |
| 7 | g.44147822T>C | CA367400772 | GCK | c.*689A>G (n.*689A>G) c.691A>G (p.Asn231Asp) c.694A>G (p.Asn232Asp) c.688A>G (p.Asn230Asp) c.640A>G (p.Asn214Asp) n.82+74T>C | ClinVar dbSNP |
| 7 | g.44147822T>G | CA367400773 | GCK | c.*689A>C (n.*689A>C) c.691A>C (p.Asn231His) c.694A>C (p.Asn232His) c.688A>C (p.Asn230His) c.640A>C (p.Asn214His) n.82+74T>G | |
| 7 | g.44147823G>A | CA454608768 | GCK | c.*688C>T (n.*688C>T) c.690C>T (p.Cys230=) c.693C>T (p.Cys231=) c.687C>T (p.Cys229=) c.639C>T (p.Cys213=) n.82+75G>A | |
| 7 | g.44147823G>C | CA367400774 | GCK | c.*688C>G (n.*688C>G) c.690C>G (p.Cys230Trp) c.693C>G (p.Cys231Trp) c.687C>G (p.Cys229Trp) c.639C>G (p.Cys213Trp) n.82+75G>C | |
| 7 | g.44147823G>T | CA367400775 | GCK | c.*688C>A (n.*688C>A) c.690C>A (p.Cys230Ter) c.693C>A (p.Cys231Ter) c.687C>A (p.Cys229Ter) c.639C>A (p.Cys213Ter) n.82+75G>T | |
| 7 | g.44147824C>A | CA367400778 | GCK | c.*687G>T (n.*687G>T) c.689G>T (p.Cys230Phe) c.692G>T (p.Cys231Phe) c.686G>T (p.Cys229Phe) c.638G>T (p.Cys213Phe) n.82+76C>A | |
| 7 | g.44147824C>G | CA367400777 | GCK | c.*687G>C (n.*687G>C) c.689G>C (p.Cys230Ser) c.692G>C (p.Cys231Ser) c.686G>C (p.Cys229Ser) c.638G>C (p.Cys213Ser) n.82+76C>G | |
| 7 | g.44147824C>T | CA367400776 | GCK | c.*687G>A (n.*687G>A) c.689G>A (p.Cys230Tyr) c.692G>A (p.Cys231Tyr) c.686G>A (p.Cys229Tyr) c.638G>A (p.Cys213Tyr) n.82+76C>T | ClinVar |
| 7 | g.44147825A= | CA1703634956 | GCK | c.*686T= (n.*686T=) c.688T= (p.Cys230=) c.691T= (p.Cys231=) c.685T= (p.Cys229=) c.637T= (p.Cys213=) n.82+77A= | |
| 7 | g.44147825A>C | CA367400779 | GCK | c.*686T>G (n.*686T>G) c.688T>G (p.Cys230Gly) c.691T>G (p.Cys231Gly) c.685T>G (p.Cys229Gly) c.637T>G (p.Cys213Gly) n.82+77A>C | |
| 7 | g.44147825A>G | CA247034 | GCK | c.*686T>C (n.*686T>C) c.688T>C (p.Cys230Arg) c.691T>C (p.Cys231Arg) c.685T>C (p.Cys229Arg) c.637T>C (p.Cys213Arg) n.82+77A>G | ClinVar dbSNP |
| 7 | g.44147825A>T | CA367400780 | GCK | c.*686T>A (n.*686T>A) c.688T>A (p.Cys230Ser) c.691T>A (p.Cys231Ser) c.685T>A (p.Cys229Ser) c.637T>A (p.Cys213Ser) n.82+77A>T | |
| 7 | g.44147826G>A | CA454608770 | GCK | c.*685C>T (n.*685C>T) c.687C>T (p.Gly229=) c.690C>T (p.Gly230=) c.684C>T (p.Gly228=) c.636C>T (p.Gly212=) n.82+78G>A | |
| 7 | g.44147826G>C | CA454608771 | GCK | c.*685C>G (n.*685C>G) c.687C>G (p.Gly229=) c.690C>G (p.Gly230=) c.684C>G (p.Gly228=) c.636C>G (p.Gly212=) n.82+78G>C | |
| 7 | g.44147826G>T | CA454608772 | GCK | c.*685C>A (n.*685C>A) c.687C>A (p.Gly229=) c.690C>A (p.Gly230=) c.684C>A (p.Gly228=) c.636C>A (p.Gly212=) n.82+78G>T | |
| 7 | g.44147826_44147827delinsGC | CA1703634957 | GCK | c.*684_*685delinsGC (n.*684_*685delinsGC) c.686_687delinsGC (p.Gly229=) c.689_690delinsGC (p.Gly230=) c.683_684delinsGC (p.Gly228=) c.635_636delinsGC (p.Gly212=) n.82+78_82+79delinsGC | |
| 7 | g.44147827C>A | CA367400781 | GCK | c.*684G>T (n.*684G>T) c.686G>T (p.Gly229Val) c.689G>T (p.Gly230Val) c.683G>T (p.Gly228Val) c.635G>T (p.Gly212Val) n.82+79C>A | gnomAD v4 |
| 7 | g.44147827C>G | CA367400782 | GCK | c.*684G>C (n.*684G>C) c.686G>C (p.Gly229Ala) c.689G>C (p.Gly230Ala) c.683G>C (p.Gly228Ala) c.635G>C (p.Gly212Ala) n.82+79C>G | |
| 7 | g.44147827C>T | CA367400783 | GCK | c.*684G>A (n.*684G>A) c.686G>A (p.Gly229Asp) c.689G>A (p.Gly230Asp) c.683G>A (p.Gly228Asp) c.635G>A (p.Gly212Asp) n.82+79C>T | COSMIC COSMIC COSMIC |
| 7 | g.44147829del | CA658655968 | GCK | c.*684del (n.*684del) c.686del (p.Gly229AlafsTer?) c.689del (p.Gly230AlafsTer?) c.683del (p.Gly228AlafsTer?) c.635del (p.Gly212AlafsTer?) n.82+81del | ClinVar dbSNP |
| 7 | g.44147828C>A | CA367400784 | GCK | c.*683G>T (n.*683G>T) c.685G>T (p.Gly229Cys) c.688G>T (p.Gly230Cys) c.682G>T (p.Gly228Cys) c.634G>T (p.Gly212Cys) n.82+80C>A | |
| 7 | g.44147828C>G | CA367400786 | GCK | c.*683G>C (n.*683G>C) c.685G>C (p.Gly229Arg) c.688G>C (p.Gly230Arg) c.682G>C (p.Gly228Arg) c.634G>C (p.Gly212Arg) n.82+80C>G | |
| 7 | g.44147828C>T | CA367400785 | GCK | c.*683G>A (n.*683G>A) c.685G>A (p.Gly229Ser) c.688G>A (p.Gly230Ser) c.682G>A (p.Gly228Ser) c.634G>A (p.Gly212Ser) n.82+80C>T | ClinVar |
| 7 | g.44147829C>A | CA454608773 | GCK | c.*682G>T (n.*682G>T) c.684G>T (p.Thr228=) c.687G>T (p.Thr229=) c.681G>T (p.Thr227=) c.633G>T (p.Thr211=) n.82+81C>A | gnomAD v4 |
| 7 | g.44147829C= | CA1703634958 | GCK | c.*682G= (n.*682G=) c.684G= (p.Thr228=) c.687G= (p.Thr229=) c.681G= (p.Thr227=) c.633G= (p.Thr211=) n.82+81C= | |
| 7 | g.44147829C>G | CA454608775 | GCK | c.*682G>C (n.*682G>C) c.684G>C (p.Thr228=) c.687G>C (p.Thr229=) c.681G>C (p.Thr227=) c.633G>C (p.Thr211=) n.82+81C>G | gnomAD v4 |
| 7 | g.44147829C>T | CA4239538 | GCK | c.*682G>A (n.*682G>A) c.684G>A (p.Thr228=) c.687G>A (p.Thr229=) c.681G>A (p.Thr227=) c.633G>A (p.Thr211=) n.82+81C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44147830G>A | CA260620 | GCK | c.*681C>T (n.*681C>T) c.683C>T (p.Thr228Met) c.686C>T (p.Thr229Met) c.680C>T (p.Thr227Met) c.632C>T (p.Thr211Met) n.82+82G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44147830G>C | CA367400787 | GCK | c.*681C>G (n.*681C>G) c.683C>G (p.Thr228Arg) c.686C>G (p.Thr229Arg) c.680C>G (p.Thr227Arg) c.632C>G (p.Thr211Arg) n.82+82G>C | ClinVar gnomAD v4 |
| 7 | g.44147830G= | CA1703634959 | GCK | c.*681C= (n.*681C=) c.683C= (p.Thr228=) c.686C= (p.Thr229=) c.680C= (p.Thr227=) c.632C= (p.Thr211=) n.82+82G= | |
| 7 | g.44147830G>T | CA367400788 | GCK | c.*681C>A (n.*681C>A) c.683C>A (p.Thr228Lys) c.686C>A (p.Thr229Lys) c.680C>A (p.Thr227Lys) c.632C>A (p.Thr211Lys) n.82+82G>T | ClinVar |
| 7 | g.44147831T>A | CA367400789 | GCK | c.*680A>T (n.*680A>T) c.682A>T (p.Thr228Ser) c.685A>T (p.Thr229Ser) c.679A>T (p.Thr227Ser) c.631A>T (p.Thr211Ser) n.82+83T>A | |
| 7 | g.44147831T>C | CA367400790 | GCK | c.*680A>G (n.*680A>G) c.682A>G (p.Thr228Ala) c.685A>G (p.Thr229Ala) c.679A>G (p.Thr227Ala) c.631A>G (p.Thr211Ala) n.82+83T>C | ClinVar dbSNP gnomAD v2 |
| 7 | g.44147831T>G | CA367400791 | GCK | c.*680A>C (n.*680A>C) c.682A>C (p.Thr228Pro) c.685A>C (p.Thr229Pro) c.679A>C (p.Thr227Pro) c.631A>C (p.Thr211Pro) n.82+83T>G | |
| 7 | g.44147831T= | CA1703634960 | GCK | c.*680A= (n.*680A=) c.682A= (p.Thr228=) c.685A= (p.Thr229=) c.679A= (p.Thr227=) c.631A= (p.Thr211=) n.82+83T= | |
| 7 | g.44147832G>A | CA454608780 | GCK | c.*679C>T (n.*679C>T) c.681C>T (p.Gly227=) c.684C>T (p.Gly228=) c.678C>T (p.Gly226=) c.630C>T (p.Gly210=) n.82+84G>A | |
| 7 | g.44147832G>C | CA454608781 | GCK | c.*679C>G (n.*679C>G) c.681C>G (p.Gly227=) c.684C>G (p.Gly228=) c.678C>G (p.Gly226=) c.630C>G (p.Gly210=) n.82+84G>C | |
| 7 | g.44147832G>T | CA454608782 | GCK | c.*679C>A (n.*679C>A) c.681C>A (p.Gly227=) c.684C>A (p.Gly228=) c.678C>A (p.Gly226=) c.630C>A (p.Gly210=) n.82+84G>T | |
| 7 | g.44147833C>A | CA367400792 | GCK | c.*678G>T (n.*678G>T) c.680G>T (p.Gly227Val) c.683G>T (p.Gly228Val) c.677G>T (p.Gly226Val) c.629G>T (p.Gly210Val) n.82+85C>A | |
| 7 | g.44147833C>G | CA367400793 | GCK | c.*678G>C (n.*678G>C) c.680G>C (p.Gly227Ala) c.683G>C (p.Gly228Ala) c.677G>C (p.Gly226Ala) c.629G>C (p.Gly210Ala) n.82+85C>G | |
| 7 | g.44147833C>T | CA367400794 | GCK | c.*678G>A (n.*678G>A) c.680G>A (p.Gly227Asp) c.683G>A (p.Gly228Asp) c.677G>A (p.Gly226Asp) c.629G>A (p.Gly210Asp) n.82+85C>T | ClinVar dbSNP gnomAD v4 |
| 7 | g.44147834dup | CA2573320722 | GCK | c.*678dup c.680dup c.683dup c.677dup c.629dup n.82+86dup | |
| 7 | g.44147834C>A | CA367400796 | GCK | c.*678-1G>T (n.*678-1G>T) c.680-1G>T (n.680-1G>T) c.683-1G>T (n.683-1G>T) c.677-1G>T (n.677-1G>T) c.629-1G>T (n.629-1G>T) n.82+86C>A | |
| 7 | g.44147834C= | CA1703634961 | GCK | c.*678-1G= (n.*678-1G=) c.680-1G= (n.680-1G=) c.683-1G= (n.683-1G=) c.677-1G= (n.677-1G=) c.629-1G= (n.629-1G=) n.82+86C= | |
| 7 | g.44147834C>G | CA367400795 | GCK | c.*678-1G>C (n.*678-1G>C) c.680-1G>C (n.680-1G>C) c.683-1G>C (n.683-1G>C) c.677-1G>C (n.677-1G>C) c.629-1G>C (n.629-1G>C) n.82+86C>G | |
| 7 | g.44147834C>T | CA16609269 | GCK | c.*678-1G>A (n.*678-1G>A) c.680-1G>A (n.680-1G>A) c.683-1G>A (n.683-1G>A) c.677-1G>A (n.677-1G>A) c.629-1G>A (n.629-1G>A) n.82+86C>T | ClinVar dbSNP |
| 7 | g.44147835T>A | CA367400797 | GCK | c.*678-2A>T (n.*678-2A>T) c.680-2A>T (n.680-2A>T) c.683-2A>T (n.683-2A>T) c.677-2A>T (n.677-2A>T) c.629-2A>T (n.629-2A>T) n.82+87T>A | |
| 7 | g.44147835T>C | CA367400799 | GCK | c.*678-2A>G (n.*678-2A>G) c.680-2A>G (n.680-2A>G) c.683-2A>G (n.683-2A>G) c.677-2A>G (n.677-2A>G) c.629-2A>G (n.629-2A>G) n.82+87T>C | ClinVar dbSNP gnomAD v4 |
| 7 | g.44147835T>G | CA367400798 | GCK | c.*678-2A>C (n.*678-2A>C) c.680-2A>C (n.680-2A>C) c.683-2A>C (n.683-2A>C) c.677-2A>C (n.677-2A>C) c.629-2A>C (n.629-2A>C) n.82+87T>G | |
| 7 | g.44147835T= | CA1703634962 | GCK | c.*678-2A= (n.*678-2A=) c.680-2A= (n.680-2A=) c.683-2A= (n.683-2A=) c.677-2A= (n.677-2A=) c.629-2A= (n.629-2A=) n.82+87T= | |
| 7 | g.44147837G>A | CA2682589264 | GCK | c.*678-4C>T (n.*678-4C>T) c.680-4C>T (n.680-4C>T) c.683-4C>T (n.683-4C>T) c.677-4C>T (n.677-4C>T) c.629-4C>T (n.629-4C>T) n.82+89G>A | gnomAD v4 |
| 7 | g.44147837G>C | CA2578878251 | GCK | c.*678-4C>G (n.*678-4C>G) c.680-4C>G (n.680-4C>G) c.683-4C>G (n.683-4C>G) c.677-4C>G (n.677-4C>G) c.629-4C>G (n.629-4C>G) n.82+89G>C | |
| 7 | g.44147837G>T | CA2682589266 | GCK | c.*678-4C>A (n.*678-4C>A) c.680-4C>A (n.680-4C>A) c.683-4C>A (n.683-4C>A) c.677-4C>A (n.677-4C>A) c.629-4C>A (n.629-4C>A) n.82+89G>T | gnomAD v4 |
| 7 | g.44147838G>A | CA157915771 | GCK | c.*678-5C>T (n.*678-5C>T) c.680-5C>T (n.680-5C>T) c.683-5C>T (n.683-5C>T) c.677-5C>T (n.677-5C>T) c.629-5C>T (n.629-5C>T) n.82+90G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44147838G= | CA1703634963 | GCK | c.*678-5C= (n.*678-5C=) c.680-5C= (n.680-5C=) c.683-5C= (n.683-5C=) c.677-5C= (n.677-5C=) c.629-5C= (n.629-5C=) n.82+90G= | |
| 7 | g.44147839G>C | CA2580618178 | GCK | c.*678-6C>G (n.*678-6C>G) c.680-6C>G (n.680-6C>G) c.683-6C>G (n.683-6C>G) c.677-6C>G (n.677-6C>G) c.629-6C>G (n.629-6C>G) n.82+91G>C | ClinVar |
| 7 | g.44147839G= | CA1703634964 | GCK | c.*678-6C= (n.*678-6C=) c.680-6C= (n.680-6C=) c.683-6C= (n.683-6C=) c.677-6C= (n.677-6C=) c.629-6C= (n.629-6C=) n.82+91G= | |
| 7 | g.44147839G>T | CA574226427 | GCK | c.*678-6C>A (n.*678-6C>A) c.680-6C>A (n.680-6C>A) c.683-6C>A (n.683-6C>A) c.677-6C>A (n.677-6C>A) c.629-6C>A (n.629-6C>A) n.82+91G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44147841G>A | CA2682589272 | GCK | c.*678-8C>T (n.*678-8C>T) c.680-8C>T (n.680-8C>T) c.683-8C>T (n.683-8C>T) c.677-8C>T (n.677-8C>T) c.629-8C>T (n.629-8C>T) n.82+93G>A | gnomAD v4 |
| 7 | g.44147842G>T | CA2714455114 | GCK | c.*678-9C>A (n.*678-9C>A) c.680-9C>A (n.680-9C>A) c.683-9C>A (n.683-9C>A) c.677-9C>A (n.677-9C>A) c.629-9C>A (n.629-9C>A) n.82+94G>T | dbSNP |
| 7 | g.44147845G>A | CA4239539 | GCK | c.*678-12C>T (n.*678-12C>T) c.680-12C>T (n.680-12C>T) c.683-12C>T (n.683-12C>T) c.677-12C>T (n.677-12C>T) c.629-12C>T (n.629-12C>T) n.82+97G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44147845G= | CA1703634965 | GCK | c.*678-12C= (n.*678-12C=) c.680-12C= (n.680-12C=) c.683-12C= (n.683-12C=) c.677-12C= (n.677-12C=) c.629-12C= (n.629-12C=) n.82+97G= | |
| 7 | g.44147846T>C | CA1100759594 | GCK | c.*678-13A>G (n.*678-13A>G) c.680-13A>G (n.680-13A>G) c.683-13A>G (n.683-13A>G) c.677-13A>G (n.677-13A>G) c.629-13A>G (n.629-13A>G) n.82+98T>C | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.44147846T= | CA1703634966 | GCK | c.*678-13A= (n.*678-13A=) c.680-13A= (n.680-13A=) c.683-13A= (n.683-13A=) c.677-13A= (n.677-13A=) c.629-13A= (n.629-13A=) n.82+98T= | |
| 7 | g.44147847C= | CA1703634967 | GCK | c.*678-14G= (n.*678-14G=) c.680-14G= (n.680-14G=) c.683-14G= (n.683-14G=) c.677-14G= (n.677-14G=) c.629-14G= (n.629-14G=) n.82+99C= | |
| 7 | g.44147847C>G | CA4239541 | GCK | c.*678-14G>C (n.*678-14G>C) c.680-14G>C (n.680-14G>C) c.683-14G>C (n.683-14G>C) c.677-14G>C (n.677-14G>C) c.629-14G>C (n.629-14G>C) n.82+99C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44147847C>T | CA4239540 | GCK | c.*678-14G>A (n.*678-14G>A) c.680-14G>A (n.680-14G>A) c.683-14G>A (n.683-14G>A) c.677-14G>A (n.677-14G>A) c.629-14G>A (n.629-14G>A) n.82+99C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44147847_44147848delinsCG | CA1703634968 | GCK | c.*678-15_*678-14delinsCG (n.*678-15_*678-14delinsCG) c.680-15_680-14delinsCG (n.680-15_680-14delinsCG) c.683-15_683-14delinsCG (n.683-15_683-14delinsCG) c.677-15_677-14delinsCG (n.677-15_677-14delinsCG) c.629-15_629-14delinsCG (n.629-15_629-14delinsCG) n.82+99_82+100delinsCG | |
| 7 | g.44147848G>A | CA4239542 | GCK | c.*678-15C>T (n.*678-15C>T) c.680-15C>T (n.680-15C>T) c.683-15C>T (n.683-15C>T) c.677-15C>T (n.677-15C>T) c.629-15C>T (n.629-15C>T) n.82+100G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44147848G>C | CA4239543 | GCK | c.*678-15C>G (n.*678-15C>G) c.680-15C>G (n.680-15C>G) c.683-15C>G (n.683-15C>G) c.677-15C>G (n.677-15C>G) c.629-15C>G (n.629-15C>G) n.82+100G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44147848G= | CA1703634969 | GCK | c.*678-15C= (n.*678-15C=) c.680-15C= (n.680-15C=) c.683-15C= (n.683-15C=) c.677-15C= (n.677-15C=) c.629-15C= (n.629-15C=) n.82+100G= | |
| 7 | g.44147848G>T | CA501189 | GCK | c.*678-15C>A (n.*678-15C>A) c.680-15C>A (n.680-15C>A) c.683-15C>A (n.683-15C>A) c.677-15C>A (n.677-15C>A) c.629-15C>A (n.629-15C>A) n.82+100G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44147853dup | CA574226428 | GCK | c.*678-15dup (n.*678-15dup) c.680-15dup (n.680-15dup) c.683-15dup (n.683-15dup) c.677-15dup (n.677-15dup) c.629-15dup (n.629-15dup) n.82+105dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44147853del | CA1100759603 | GCK | c.*678-15del (n.*678-15del) c.680-15del (n.680-15del) c.683-15del (n.683-15del) c.677-15del (n.677-15del) c.629-15del (n.629-15del) n.82+105del | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.44147849G>A | CA2682589349 | GCK | c.*678-16C>T (n.*678-16C>T) c.680-16C>T (n.680-16C>T) c.683-16C>T (n.683-16C>T) c.677-16C>T (n.677-16C>T) c.629-16C>T (n.629-16C>T) n.82+101G>A | gnomAD v4 |
| 7 | g.44147849G>C | CA2682589351 | GCK | c.*678-16C>G (n.*678-16C>G) c.680-16C>G (n.680-16C>G) c.683-16C>G (n.683-16C>G) c.677-16C>G (n.677-16C>G) c.629-16C>G (n.629-16C>G) n.82+101G>C | gnomAD v4 |
| 7 | g.44147850G>A | CA2682589356 | GCK | c.*678-17C>T (n.*678-17C>T) c.680-17C>T (n.680-17C>T) c.683-17C>T (n.683-17C>T) c.677-17C>T (n.677-17C>T) c.629-17C>T (n.629-17C>T) n.82+102G>A | gnomAD v4 |
| 7 | g.44147851G>A | CA2682589360 | GCK | c.*678-18C>T (n.*678-18C>T) c.680-18C>T (n.680-18C>T) c.683-18C>T (n.683-18C>T) c.677-18C>T (n.677-18C>T) c.629-18C>T (n.629-18C>T) n.82+103G>A | gnomAD v4 |
| 7 | g.44147851G= | CA1703634970 | GCK | c.*678-18C= (n.*678-18C=) c.680-18C= (n.680-18C=) c.683-18C= (n.683-18C=) c.677-18C= (n.677-18C=) c.629-18C= (n.629-18C=) n.82+103G= | |
| 7 | g.44147851G>T | CA1703634971 | GCK | c.*678-18C>A (n.*678-18C>A) c.680-18C>A (n.680-18C>A) c.683-18C>A (n.683-18C>A) c.677-18C>A (n.677-18C>A) c.629-18C>A (n.629-18C>A) n.82+103G>T | dbSNP gnomAD v4 |
| 7 | g.44147851_44147852insA | CA4239544 | GCK | c.*678-19_*678-18insT (n.*678-19_*678-18insT) c.680-19_680-18insT (n.680-19_680-18insT) c.683-19_683-18insT (n.683-19_683-18insT) c.677-19_677-18insT (n.677-19_677-18insT) c.629-19_629-18insT (n.629-19_629-18insT) n.82+103_82+104insA | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44147852G>A | CA4239545 | GCK | c.*678-19C>T (n.*678-19C>T) c.680-19C>T (n.680-19C>T) c.683-19C>T (n.683-19C>T) c.677-19C>T (n.677-19C>T) c.629-19C>T (n.629-19C>T) n.82+104G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44147852G= | CA1703634972 | GCK | c.*678-19C= (n.*678-19C=) c.680-19C= (n.680-19C=) c.683-19C= (n.683-19C=) c.677-19C= (n.677-19C=) c.629-19C= (n.629-19C=) n.82+104G= | |
| 7 | g.44147853G>A | CA838779611 | GCK | c.*678-20C>T (n.*678-20C>T) c.680-20C>T (n.680-20C>T) c.683-20C>T (n.683-20C>T) c.677-20C>T (n.677-20C>T) c.629-20C>T (n.629-20C>T) n.82+105G>A | dbSNP gnomAD v4 |
| 7 | g.44147853G>C | CA4239547 | GCK | c.*678-20C>G (n.*678-20C>G) c.680-20C>G (n.680-20C>G) c.683-20C>G (n.683-20C>G) c.677-20C>G (n.677-20C>G) c.629-20C>G (n.629-20C>G) n.82+105G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44147853G= | CA1703634973 | GCK | c.*678-20C= (n.*678-20C=) c.680-20C= (n.680-20C=) c.683-20C= (n.683-20C=) c.677-20C= (n.677-20C=) c.629-20C= (n.629-20C=) n.82+105G= | |
| 7 | g.44147853G>T | CA4239546 | GCK | c.*678-20C>A (n.*678-20C>A) c.680-20C>A (n.680-20C>A) c.683-20C>A (n.683-20C>A) c.677-20C>A (n.677-20C>A) c.629-20C>A (n.629-20C>A) n.82+105G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44147854A>G | CA2682589384 | GCK | c.*678-21T>C (n.*678-21T>C) c.680-21T>C (n.680-21T>C) c.683-21T>C (n.683-21T>C) c.677-21T>C (n.677-21T>C) c.629-21T>C (n.629-21T>C) n.82+106A>G | gnomAD v4 |
| 7 | g.44147855C>A | CA574226429 | GCK | c.*678-22G>T (n.*678-22G>T) c.680-22G>T (n.680-22G>T) c.683-22G>T (n.683-22G>T) c.677-22G>T (n.677-22G>T) c.629-22G>T (n.629-22G>T) n.82+107C>A | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44147855C= | CA1703634974 | GCK | c.*678-22G= (n.*678-22G=) c.680-22G= (n.680-22G=) c.683-22G= (n.683-22G=) c.677-22G= (n.677-22G=) c.629-22G= (n.629-22G=) n.82+107C= | |
| 7 | g.44147855C>T | CA2578878258 | GCK | c.*678-22G>A (n.*678-22G>A) c.680-22G>A (n.680-22G>A) c.683-22G>A (n.683-22G>A) c.677-22G>A (n.677-22G>A) c.629-22G>A (n.629-22G>A) n.82+107C>T | |
| 7 | g.44147856T>C | CA2682589393 | GCK | c.*678-23A>G (n.*678-23A>G) c.680-23A>G (n.680-23A>G) c.683-23A>G (n.683-23A>G) c.677-23A>G (n.677-23A>G) c.629-23A>G (n.629-23A>G) n.82+108T>C | gnomAD v4 |
| 7 | g.44147856T>G | CA4239548 | GCK | c.*678-23A>C (n.*678-23A>C) c.680-23A>C (n.680-23A>C) c.683-23A>C (n.683-23A>C) c.677-23A>C (n.677-23A>C) c.629-23A>C (n.629-23A>C) n.82+108T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44147856T= | CA1703634975 | GCK | c.*678-23A= (n.*678-23A=) c.680-23A= (n.680-23A=) c.683-23A= (n.683-23A=) c.677-23A= (n.677-23A=) c.629-23A= (n.629-23A=) n.82+108T= | |
| 7 | g.44147860A>C | CA2682589405 | GCK | c.*678-27T>G (n.*678-27T>G) c.680-27T>G (n.680-27T>G) c.683-27T>G (n.683-27T>G) c.677-27T>G (n.677-27T>G) c.629-27T>G (n.629-27T>G) n.82+112A>C | gnomAD v4 |
| 7 | g.44147861G>A | CA157915862 | GCK | c.*678-28C>T (n.*678-28C>T) c.680-28C>T (n.680-28C>T) c.683-28C>T (n.683-28C>T) c.677-28C>T (n.677-28C>T) c.629-28C>T (n.629-28C>T) n.82+113G>A | dbSNP gnomAD v4 |
| 7 | g.44147861G= | CA1703634976 | GCK | c.*678-28C= (n.*678-28C=) c.680-28C= (n.680-28C=) c.683-28C= (n.683-28C=) c.677-28C= (n.677-28C=) c.629-28C= (n.629-28C=) n.82+113G= | |
| 7 | g.44147861G>T | CA157915868 | GCK | c.*678-28C>A (n.*678-28C>A) c.680-28C>A (n.680-28C>A) c.683-28C>A (n.683-28C>A) c.677-28C>A (n.677-28C>A) c.629-28C>A (n.629-28C>A) n.82+113G>T | dbSNP gnomAD v4 |
| 7 | g.44147862C= | CA1703634977 | GCK | c.*678-29G= (n.*678-29G=) c.680-29G= (n.680-29G=) c.683-29G= (n.683-29G=) c.677-29G= (n.677-29G=) c.629-29G= (n.629-29G=) n.82+114C= | |
| 7 | g.44147862C>G | CA157915875 | GCK | c.*678-29G>C (n.*678-29G>C) c.680-29G>C (n.680-29G>C) c.683-29G>C (n.683-29G>C) c.677-29G>C (n.677-29G>C) c.629-29G>C (n.629-29G>C) n.82+114C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44147862C>T | CA4239549 | GCK | c.*678-29G>A (n.*678-29G>A) c.680-29G>A (n.680-29G>A) c.683-29G>A (n.683-29G>A) c.677-29G>A (n.677-29G>A) c.629-29G>A (n.629-29G>A) n.82+114C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44147863G>A | CA838779617 | GCK | c.*678-30C>T (n.*678-30C>T) c.680-30C>T (n.680-30C>T) c.683-30C>T (n.683-30C>T) c.677-30C>T (n.677-30C>T) c.629-30C>T (n.629-30C>T) n.82+115G>A | dbSNP gnomAD v4 |
| 7 | g.44147863G= | CA1703634978 | GCK | c.*678-30C= (n.*678-30C=) c.680-30C= (n.680-30C=) c.683-30C= (n.683-30C=) c.677-30C= (n.677-30C=) c.629-30C= (n.629-30C=) n.82+115G= | |
| 7 | g.44147865G>A | CA2682589425 | GCK | c.*678-32C>T (n.*678-32C>T) c.680-32C>T (n.680-32C>T) c.683-32C>T (n.683-32C>T) c.677-32C>T (n.677-32C>T) c.629-32C>T (n.629-32C>T) n.82+117G>A | gnomAD v4 |
| 7 | g.44147865G>C | CA2682589426 | GCK | c.*678-32C>G (n.*678-32C>G) c.680-32C>G (n.680-32C>G) c.683-32C>G (n.683-32C>G) c.677-32C>G (n.677-32C>G) c.629-32C>G (n.629-32C>G) n.82+117G>C | gnomAD v4 |
| 7 | g.44147866A= | CA1703634979 | GCK | c.*678-33T= (n.*678-33T=) c.680-33T= (n.680-33T=) c.683-33T= (n.683-33T=) c.677-33T= (n.677-33T=) c.629-33T= (n.629-33T=) n.82+118A= | |
| 7 | g.44147866A>G | CA4239550 | GCK | c.*678-33T>C (n.*678-33T>C) c.680-33T>C (n.680-33T>C) c.683-33T>C (n.683-33T>C) c.677-33T>C (n.677-33T>C) c.629-33T>C (n.629-33T>C) n.82+118A>G | dbSNP ExAC gnomAD v2 |
| 7 | g.44147869_44147871del | CA2682589428 | GCK | c.*678-36_*678-34del (n.*678-36_*678-34del) c.680-36_680-34del (n.680-36_680-34del) c.683-36_683-34del (n.683-36_683-34del) c.677-36_677-34del (n.677-36_677-34del) c.629-36_629-34del (n.629-36_629-34del) n.82+121_82+123del | gnomAD v4 |
| 7 | g.44147869_44147870delinsTG | CA1703634980 | GCK | c.*678-37_*678-36delinsCA (n.*678-37_*678-36delinsCA) c.680-37_680-36delinsCA (n.680-37_680-36delinsCA) c.683-37_683-36delinsCA (n.683-37_683-36delinsCA) c.677-37_677-36delinsCA (n.677-37_677-36delinsCA) c.629-37_629-36delinsCA (n.629-37_629-36delinsCA) n.82+121_82+122delinsTG | |
| 7 | g.44147870del | CA574226430 | GCK | c.*678-37del (n.*678-37del) c.680-37del (n.680-37del) c.683-37del (n.683-37del) c.677-37del (n.677-37del) c.629-37del (n.629-37del) n.82+122del | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44147871C= | CA1703634981 | GCK | c.*678-38G= (n.*678-38G=) c.680-38G= (n.680-38G=) c.683-38G= (n.683-38G=) c.677-38G= (n.677-38G=) c.629-38G= (n.629-38G=) n.82+123C= | |
| 7 | g.44147871C>T | CA574226431 | GCK | c.*678-38G>A (n.*678-38G>A) c.680-38G>A (n.680-38G>A) c.683-38G>A (n.683-38G>A) c.677-38G>A (n.677-38G>A) c.629-38G>A (n.629-38G>A) n.82+123C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44147872A= | CA1703634982 | GCK | c.*678-39T= (n.*678-39T=) c.680-39T= (n.680-39T=) c.683-39T= (n.683-39T=) c.677-39T= (n.677-39T=) c.629-39T= (n.629-39T=) n.82+124A= | |
| 7 | g.44147872A>G | CA574226432 | GCK | c.*678-39T>C (n.*678-39T>C) c.680-39T>C (n.680-39T>C) c.683-39T>C (n.683-39T>C) c.677-39T>C (n.677-39T>C) c.629-39T>C (n.629-39T>C) n.82+124A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44147873C= | CA1703634983 | GCK | c.*678-40G= (n.*678-40G=) c.680-40G= (n.680-40G=) c.683-40G= (n.683-40G=) c.677-40G= (n.677-40G=) c.629-40G= (n.629-40G=) n.82+125C= | |
| 7 | g.44147873C>G | CA2682589434 | GCK | c.*678-40G>C (n.*678-40G>C) c.680-40G>C (n.680-40G>C) c.683-40G>C (n.683-40G>C) c.677-40G>C (n.677-40G>C) c.629-40G>C (n.629-40G>C) n.82+125C>G | gnomAD v4 |
| 7 | g.44147873C>T | CA574226433 | GCK | c.*678-40G>A (n.*678-40G>A) c.680-40G>A (n.680-40G>A) c.683-40G>A (n.683-40G>A) c.677-40G>A (n.677-40G>A) c.629-40G>A (n.629-40G>A) n.82+125C>T | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44147874T>C | CA1100759617 | GCK | c.*678-41A>G (n.*678-41A>G) c.680-41A>G (n.680-41A>G) c.683-41A>G (n.683-41A>G) c.677-41A>G (n.677-41A>G) c.629-41A>G (n.629-41A>G) n.82+126T>C | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.44147874T= | CA1703634985 | GCK | c.*678-41A= (n.*678-41A=) c.680-41A= (n.680-41A=) c.683-41A= (n.683-41A=) c.677-41A= (n.677-41A=) c.629-41A= (n.629-41A=) n.82+126T= | |
| 7 | g.44147874_44147875delinsTG | CA1703634984 | GCK | c.*678-42_*678-41delinsCA (n.*678-42_*678-41delinsCA) c.680-42_680-41delinsCA (n.680-42_680-41delinsCA) c.683-42_683-41delinsCA (n.683-42_683-41delinsCA) c.677-42_677-41delinsCA (n.677-42_677-41delinsCA) c.629-42_629-41delinsCA (n.629-42_629-41delinsCA) n.82+126_82+127delinsTG | |
| 7 | g.44147874_44147882delinsTGCCCCGGA | CA1703634986 | GCK | c.*678-49_*678-41delinsTCCGGGGCA (n.*678-49_*678-41delinsTCCGGGGCA) c.680-49_680-41delinsTCCGGGGCA (n.680-49_680-41delinsTCCGGGGCA) c.683-49_683-41delinsTCCGGGGCA (n.683-49_683-41delinsTCCGGGGCA) c.677-49_677-41delinsTCCGGGGCA (n.677-49_677-41delinsTCCGGGGCA) c.629-49_629-41delinsTCCGGGGCA (n.629-49_629-41delinsTCCGGGGCA) n.82+126_82+134delinsTGCCCCGGA | |
| 7 | g.44147875del | CA1100759627 | GCK | c.*678-42del (n.*678-42del) c.680-42del (n.680-42del) c.683-42del (n.683-42del) c.677-42del (n.677-42del) c.629-42del (n.629-42del) n.82+127del | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.44147875G>C | CA1703634988 | GCK | c.*678-42C>G (n.*678-42C>G) c.680-42C>G (n.680-42C>G) c.683-42C>G (n.683-42C>G) c.677-42C>G (n.677-42C>G) c.629-42C>G (n.629-42C>G) n.82+127G>C | dbSNP gnomAD v4 |
| 7 | g.44147875G= | CA1703634987 | GCK | c.*678-42C= (n.*678-42C=) c.680-42C= (n.680-42C=) c.683-42C= (n.683-42C=) c.677-42C= (n.677-42C=) c.629-42C= (n.629-42C=) n.82+127G= | |
| 7 | g.44147876_44147883del | CA838779625 | GCK | c.*678-49_*678-42del (n.*678-49_*678-42del) c.680-49_680-42del (n.680-49_680-42del) c.683-49_683-42del (n.683-49_683-42del) c.677-49_677-42del (n.677-49_677-42del) c.629-49_629-42del (n.629-49_629-42del) n.82+128_82+135del | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.44147877C= | CA1703634989 | GCK | c.*678-44G= (n.*678-44G=) c.680-44G= (n.680-44G=) c.683-44G= (n.683-44G=) c.677-44G= (n.677-44G=) c.629-44G= (n.629-44G=) n.82+129C= | |
| 7 | g.44147877C>G | CA2682589442 | GCK | c.*678-44G>C (n.*678-44G>C) c.680-44G>C (n.680-44G>C) c.683-44G>C (n.683-44G>C) c.677-44G>C (n.677-44G>C) c.629-44G>C (n.629-44G>C) n.82+129C>G | gnomAD v4 |
| 7 | g.44147877C>T | CA574226434 | GCK | c.*678-44G>A (n.*678-44G>A) c.680-44G>A (n.680-44G>A) c.683-44G>A (n.683-44G>A) c.677-44G>A (n.677-44G>A) c.629-44G>A (n.629-44G>A) n.82+129C>T | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44147878C= | CA1703634990 | GCK | c.*678-45G= (n.*678-45G=) c.680-45G= (n.680-45G=) c.683-45G= (n.683-45G=) c.677-45G= (n.677-45G=) c.629-45G= (n.629-45G=) n.82+130C= | |
| 7 | g.44147878C>G | CA2682589445 | GCK | c.*678-45G>C (n.*678-45G>C) c.680-45G>C (n.680-45G>C) c.683-45G>C (n.683-45G>C) c.677-45G>C (n.677-45G>C) c.629-45G>C (n.629-45G>C) n.82+130C>G | gnomAD v4 |
| 7 | g.44147878C>T | CA157915892 | GCK | c.*678-45G>A (n.*678-45G>A) c.680-45G>A (n.680-45G>A) c.683-45G>A (n.683-45G>A) c.677-45G>A (n.677-45G>A) c.629-45G>A (n.629-45G>A) n.82+130C>T | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44147879C= | CA1703634991 | GCK | c.*678-46G= (n.*678-46G=) c.680-46G= (n.680-46G=) c.683-46G= (n.683-46G=) c.677-46G= (n.677-46G=) c.629-46G= (n.629-46G=) n.82+131C= | |
| 7 | g.44147879C>G | CA157915902 | GCK | c.*678-46G>C (n.*678-46G>C) c.680-46G>C (n.680-46G>C) c.683-46G>C (n.683-46G>C) c.677-46G>C (n.677-46G>C) c.629-46G>C (n.629-46G>C) n.82+131C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44147879C>T | CA4239551 | GCK | c.*678-46G>A (n.*678-46G>A) c.680-46G>A (n.680-46G>A) c.683-46G>A (n.683-46G>A) c.677-46G>A (n.677-46G>A) c.629-46G>A (n.629-46G>A) n.82+131C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44147880G>A | CA4239552 | GCK | c.*678-47C>T (n.*678-47C>T) c.680-47C>T (n.680-47C>T) c.683-47C>T (n.683-47C>T) c.677-47C>T (n.677-47C>T) c.629-47C>T (n.629-47C>T) n.82+132G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44147880G= | CA1703634992 | GCK | c.*678-47C= (n.*678-47C=) c.680-47C= (n.680-47C=) c.683-47C= (n.683-47C=) c.677-47C= (n.677-47C=) c.629-47C= (n.629-47C=) n.82+132G= | |
| 7 | g.44147880G>T | CA4239553 | GCK | c.*678-47C>A (n.*678-47C>A) c.680-47C>A (n.680-47C>A) c.683-47C>A (n.683-47C>A) c.677-47C>A (n.677-47C>A) c.629-47C>A (n.629-47C>A) n.82+132G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44147883G= | CA1703634993 | GCK | c.*678-50C= (n.*678-50C=) c.680-50C= (n.680-50C=) c.683-50C= (n.683-50C=) c.677-50C= (n.677-50C=) c.629-50C= (n.629-50C=) n.82+135G= | |
| 7 | g.44147883G>T | CA4239554 | GCK | c.*678-50C>A (n.*678-50C>A) c.680-50C>A (n.680-50C>A) c.683-50C>A (n.683-50C>A) c.677-50C>A (n.677-50C>A) c.629-50C>A (n.629-50C>A) n.82+135G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44147885A= | CA1703634994 | GCK | c.*678-52T= (n.*678-52T=) c.680-52T= (n.680-52T=) c.683-52T= (n.683-52T=) c.677-52T= (n.677-52T=) c.629-52T= (n.629-52T=) n.82+137A= | |
| 7 | g.44147885A>G | CA1703634995 | GCK | c.*678-52T>C (n.*678-52T>C) c.680-52T>C (n.680-52T>C) c.683-52T>C (n.683-52T>C) c.677-52T>C (n.677-52T>C) c.629-52T>C (n.629-52T>C) n.82+137A>G | dbSNP |
| 7 | g.44147887G>A | CA157915918 | GCK | c.*678-54C>T (n.*678-54C>T) c.680-54C>T (n.680-54C>T) c.683-54C>T (n.683-54C>T) c.677-54C>T (n.677-54C>T) c.629-54C>T (n.629-54C>T) n.82+139G>A | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.44147887G= | CA1703634996 | GCK | c.*678-54C= (n.*678-54C=) c.680-54C= (n.680-54C=) c.683-54C= (n.683-54C=) c.677-54C= (n.677-54C=) c.629-54C= (n.629-54C=) n.82+139G= | |
| 7 | g.44147888G>A | CA2682589460 | GCK | c.*678-55C>T (n.*678-55C>T) c.680-55C>T (n.680-55C>T) c.683-55C>T (n.683-55C>T) c.677-55C>T (n.677-55C>T) c.629-55C>T (n.629-55C>T) n.82+140G>A | gnomAD v4 |
| 7 | g.44147888G>T | CA454608797 | GCK | c.*678-55C>A (n.*678-55C>A) c.680-55C>A (n.680-55C>A) c.683-55C>A (n.683-55C>A) c.677-55C>A (n.677-55C>A) c.629-55C>A (n.629-55C>A) n.82+140G>T | dbSNP gnomAD v4 |
| 7 | g.44147889C>T | CA2578878267 | GCK | c.*678-56G>A (n.*678-56G>A) c.680-56G>A (n.680-56G>A) c.683-56G>A (n.683-56G>A) c.677-56G>A (n.677-56G>A) c.629-56G>A (n.629-56G>A) n.82+141C>T | gnomAD v4 |