UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44148538_44152555dup | CA1139771162 | GCK | c.*207-130_*678-705dup c.209-130_680-705dup n.695-130_2387dup c.212-130_683-705dup c.206-130_677-705dup c.209-130_629-705dup | |
| 7 | g.44152291T>A | CA367402605 | GCK | c.*341A>T (n.*341A>T) c.343A>T (p.Met115Leu) n.829A>T c.346A>T (p.Met116Leu) c.340A>T (p.Met114Leu) | |
| 7 | g.44152291T>C | CA4239673 | GCK | c.*341A>G (n.*341A>G) c.343A>G (p.Met115Val) n.829A>G c.346A>G (p.Met116Val) c.340A>G (p.Met114Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44152291T>G | CA367402606 | GCK | c.*341A>C (n.*341A>C) c.343A>C (p.Met115Leu) n.829A>C c.346A>C (p.Met116Leu) c.340A>C (p.Met114Leu) | |
| 7 | g.44152291T= | CA1703637034 | GCK | c.*341A= (n.*341A=) c.343A= (p.Met115=) n.829A= c.346A= (p.Met116=) c.340A= (p.Met114=) | |
| 7 | g.44152292G>A | CA4239674 | GCK | c.*340C>T (n.*340C>T) c.342C>T (p.Ala114=) n.828C>T c.345C>T (p.Ala115=) c.339C>T (p.Ala113=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44152292G>C | CA454610184 | GCK | c.*340C>G (n.*340C>G) c.342C>G (p.Ala114=) n.828C>G c.345C>G (p.Ala115=) c.339C>G (p.Ala113=) | |
| 7 | g.44152292G= | CA1703637035 | GCK | c.*340C= (n.*340C=) c.342C= (p.Ala114=) n.828C= c.345C= (p.Ala115=) c.339C= (p.Ala113=) | |
| 7 | g.44152292G>T | CA454610185 | GCK | c.*340C>A (n.*340C>A) c.342C>A (p.Ala114=) n.828C>A c.345C>A (p.Ala115=) c.339C>A (p.Ala113=) | COSMIC COSMIC COSMIC |
| 7 | g.44152293G>A | CA367402611 | GCK | c.*339C>T (n.*339C>T) c.341C>T (p.Ala114Val) n.827C>T c.344C>T (p.Ala115Val) c.338C>T (p.Ala113Val) | |
| 7 | g.44152293G>C | CA367402612 | GCK | c.*339C>G (n.*339C>G) c.341C>G (p.Ala114Gly) n.827C>G c.344C>G (p.Ala115Gly) c.338C>G (p.Ala113Gly) | |
| 7 | g.44152293G>T | CA367402614 | GCK | c.*339C>A (n.*339C>A) c.341C>A (p.Ala114Asp) n.827C>A c.344C>A (p.Ala115Asp) c.338C>A (p.Ala113Asp) | |
| 7 | g.44152294C>A | CA367402619 | GCK | c.*338G>T (n.*338G>T) c.340G>T (p.Ala114Ser) n.826G>T c.343G>T (p.Ala115Ser) c.337G>T (p.Ala113Ser) | |
| 7 | g.44152294C= | CA1703637036 | GCK | c.*338G= (n.*338G=) c.340G= (p.Ala114=) n.826G= c.343G= (p.Ala115=) c.337G= (p.Ala113=) | |
| 7 | g.44152294C>G | CA367402617 | GCK | c.*338G>C (n.*338G>C) c.340G>C (p.Ala114Pro) n.826G>C c.343G>C (p.Ala115Pro) c.337G>C (p.Ala113Pro) | |
| 7 | g.44152294C>T | CA4239675 | GCK | c.*338G>A (n.*338G>A) c.340G>A (p.Ala114Thr) n.826G>A c.343G>A (p.Ala115Thr) c.337G>A (p.Ala113Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44152294dup | CA2573052880 | GCK | c.*338dup (n.*338dup) c.340dup (p.Ala114GlyfsTer7) n.826dup c.343dup (p.Ala115GlyfsTer7) c.337dup (p.Ala113GlyfsTer7) | ClinVar dbSNP |
| 7 | g.44152295G>A | CA209535 | GCK | c.*337C>T (n.*337C>T) c.339C>T (p.Asp113=) n.825C>T c.342C>T (p.Asp114=) c.336C>T (p.Asp112=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44152295G>C | CA367402622 | GCK | c.*337C>G (n.*337C>G) c.339C>G (p.Asp113Glu) n.825C>G c.342C>G (p.Asp114Glu) c.336C>G (p.Asp112Glu) | |
| 7 | g.44152295G= | CA1703637037 | GCK | c.*337C= (n.*337C=) c.339C= (p.Asp113=) n.825C= c.342C= (p.Asp114=) c.336C= (p.Asp112=) | |
| 7 | g.44152295G>T | CA367402625 | GCK | c.*337C>A (n.*337C>A) c.339C>A (p.Asp113Glu) n.825C>A c.342C>A (p.Asp114Glu) c.336C>A (p.Asp112Glu) | |
| 7 | g.44152296T>A | CA367402627 | GCK | c.*336A>T (n.*336A>T) c.338A>T (p.Asp113Val) n.824A>T c.341A>T (p.Asp114Val) c.335A>T (p.Asp112Val) | |
| 7 | g.44152296T>C | CA367402628 | GCK | c.*336A>G (n.*336A>G) c.338A>G (p.Asp113Gly) n.824A>G c.341A>G (p.Asp114Gly) c.335A>G (p.Asp112Gly) | |
| 7 | g.44152296T>G | CA367402629 | GCK | c.*336A>C (n.*336A>C) c.338A>C (p.Asp113Ala) n.824A>C c.341A>C (p.Asp114Ala) c.335A>C (p.Asp112Ala) | |
| 7 | g.44152297C>A | CA367402632 | GCK | c.*335G>T (n.*335G>T) c.337G>T (p.Asp113Tyr) n.823G>T c.340G>T (p.Asp114Tyr) c.334G>T (p.Asp112Tyr) | |
| 7 | g.44152297C>G | CA367402633 | GCK | c.*335G>C (n.*335G>C) c.337G>C (p.Asp113His) n.823G>C c.340G>C (p.Asp114His) c.334G>C (p.Asp112His) | |
| 7 | g.44152297C>T | CA367402634 | GCK | c.*335G>A (n.*335G>A) c.337G>A (p.Asp113Asn) n.823G>A c.340G>A (p.Asp114Asn) c.334G>A (p.Asp112Asn) | gnomAD v4 |
| 7 | g.44152298C>A | CA367402636 | GCK | c.*334G>T (n.*334G>T) c.336G>T (p.Glu112Asp) n.822G>T c.339G>T (p.Glu113Asp) c.333G>T (p.Glu111Asp) | |
| 7 | g.44152298C>G | CA367402637 | GCK | c.*334G>C (n.*334G>C) c.336G>C (p.Glu112Asp) n.822G>C c.339G>C (p.Glu113Asp) c.333G>C (p.Glu111Asp) | |
| 7 | g.44152298C>T | CA454610191 | GCK | c.*334G>A (n.*334G>A) c.336G>A (p.Glu112=) n.822G>A c.339G>A (p.Glu113=) c.333G>A (p.Glu111=) | gnomAD v4 |
| 7 | g.44152299T>A | CA367402638 | GCK | c.*333A>T (n.*333A>T) c.335A>T (p.Glu112Val) n.821A>T c.338A>T (p.Glu113Val) c.332A>T (p.Glu111Val) | |
| 7 | g.44152299T>C | CA367402639 | GCK | c.*333A>G (n.*333A>G) c.335A>G (p.Glu112Gly) n.821A>G c.338A>G (p.Glu113Gly) c.332A>G (p.Glu111Gly) | |
| 7 | g.44152299T>G | CA367402640 | GCK | c.*333A>C (n.*333A>C) c.335A>C (p.Glu112Ala) n.821A>C c.338A>C (p.Glu113Ala) c.332A>C (p.Glu111Ala) | |
| 7 | g.44152300C>A | CA367402643 | GCK | c.*332G>T (n.*332G>T) c.334G>T (p.Glu112Ter) n.820G>T c.337G>T (p.Glu113Ter) c.331G>T (p.Glu111Ter) | |
| 7 | g.44152300C= | CA1703637039 | GCK | c.*332G= (n.*332G=) c.334G= (p.Glu112=) n.820G= c.337G= (p.Glu113=) c.331G= (p.Glu111=) | |
| 7 | g.44152300C>G | CA367402641 | GCK | c.*332G>C (n.*332G>C) c.334G>C (p.Glu112Gln) n.820G>C c.337G>C (p.Glu113Gln) c.331G>C (p.Glu111Gln) | |
| 7 | g.44152300C>T | CA157919172 | GCK | c.*332G>A (n.*332G>A) c.334G>A (p.Glu112Lys) n.820G>A c.337G>A (p.Glu113Lys) c.331G>A (p.Glu111Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44152300_44152317delinsCGGGGATGGAGTACATCT | CA1703637038 | GCK | c.*315_*332delinsAGATGTACTCCATCCCCG (n.*315_*332delinsAGATGTACTCCATCCCCG) c.317_334delinsAGATGTACTCCATCCCCG (p.Gln106=) n.803_820delinsAGATGTACTCCATCCCCG c.320_337delinsAGATGTACTCCATCCCCG (p.Gln107=) c.314_331delinsAGATGTACTCCATCCCCG (p.Gln105=) | |
| 7 | g.44152301G>A | CA208152 | GCK | c.*331C>T (n.*331C>T) c.333C>T (p.Pro111=) n.819C>T c.336C>T (p.Pro112=) c.330C>T (p.Pro110=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44152301G>C | CA4239676 | GCK | c.*331C>G (n.*331C>G) c.333C>G (p.Pro111=) n.819C>G c.336C>G (p.Pro112=) c.330C>G (p.Pro110=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44152301G= | CA1703637040 | GCK | c.*331C= (n.*331C=) c.333C= (p.Pro111=) n.819C= c.336C= (p.Pro112=) c.330C= (p.Pro110=) | |
| 7 | g.44152301G>T | CA454610196 | GCK | c.*331C>A (n.*331C>A) c.333C>A (p.Pro111=) n.819C>A c.336C>A (p.Pro112=) c.330C>A (p.Pro110=) | |
| 7 | g.44152303_44152319del | CA206713 | GCK | c.*315_*331del (n.*315_*331del) c.317_333del (p.Gln106ArgfsTer9) n.803_819del c.320_336del (p.Gln107ArgfsTer9) c.314_330del (p.Gln105ArgfsTer9) | ClinVar dbSNP |
| 7 | g.44152302G>A | CA367402647 | GCK | c.*330C>T (n.*330C>T) c.332C>T (p.Pro111Leu) n.818C>T c.335C>T (p.Pro112Leu) c.329C>T (p.Pro110Leu) | ClinVar |
| 7 | g.44152302G>C | CA367402648 | GCK | c.*330C>G (n.*330C>G) c.332C>G (p.Pro111Arg) n.818C>G c.335C>G (p.Pro112Arg) c.329C>G (p.Pro110Arg) | |
| 7 | g.44152302G>T | CA367402650 | GCK | c.*330C>A (n.*330C>A) c.332C>A (p.Pro111His) n.818C>A c.335C>A (p.Pro112His) c.329C>A (p.Pro110His) | |
| 7 | g.44152303G>A | CA367402652 | GCK | c.*329C>T (n.*329C>T) c.331C>T (p.Pro111Ser) n.817C>T c.334C>T (p.Pro112Ser) c.328C>T (p.Pro110Ser) | |
| 7 | g.44152303G>C | CA367402654 | GCK | c.*329C>G (n.*329C>G) c.331C>G (p.Pro111Ala) n.817C>G c.334C>G (p.Pro112Ala) c.328C>G (p.Pro110Ala) | |
| 7 | g.44152303G>T | CA367402655 | GCK | c.*329C>A (n.*329C>A) c.331C>A (p.Pro111Thr) n.817C>A c.334C>A (p.Pro112Thr) c.328C>A (p.Pro110Thr) | |
| 7 | g.44152304G>A | CA454610197 | GCK | c.*328C>T (n.*328C>T) c.330C>T (p.Ile110=) n.816C>T c.333C>T (p.Ile111=) c.327C>T (p.Ile109=) | |
| 7 | g.44152304G>C | CA367402657 | GCK | c.*328C>G (n.*328C>G) c.330C>G (p.Ile110Met) n.816C>G c.333C>G (p.Ile111Met) c.327C>G (p.Ile109Met) | ClinVar dbSNP |
| 7 | g.44152304G= | CA1703637041 | GCK | c.*328C= (n.*328C=) c.330C= (p.Ile110=) n.816C= c.333C= (p.Ile111=) c.327C= (p.Ile109=) | |
| 7 | g.44152304G>T | CA454610200 | GCK | c.*328C>A (n.*328C>A) c.330C>A (p.Ile110=) n.816C>A c.333C>A (p.Ile111=) c.327C>A (p.Ile109=) | |
| 7 | g.44152305del | CA2695202985 | GCK | c.*327del (n.*327del) c.329del (p.Ile110ThrfsTer6) n.815del c.332del (p.Ile111ThrfsTer6) c.326del (p.Ile109ThrfsTer6) | |
| 7 | g.44152305A= | CA1703637042 | GCK | c.*327T= (n.*327T=) c.329T= (p.Ile110=) n.815T= c.332T= (p.Ile111=) c.326T= (p.Ile109=) | |
| 7 | g.44152305A>C | CA367402659 | GCK | c.*327T>G (n.*327T>G) c.329T>G (p.Ile110Ser) n.815T>G c.332T>G (p.Ile111Ser) c.326T>G (p.Ile109Ser) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| 7 | g.44152305A>G | CA367402661 | GCK | c.*327T>C (n.*327T>C) c.329T>C (p.Ile110Thr) n.815T>C c.332T>C (p.Ile111Thr) c.326T>C (p.Ile109Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44152305A>T | CA367402662 | GCK | c.*327T>A (n.*327T>A) c.329T>A (p.Ile110Asn) n.815T>A c.332T>A (p.Ile111Asn) c.326T>A (p.Ile109Asn) | |
| 7 | g.44152306T>A | CA367402669 | GCK | c.*326A>T (n.*326A>T) c.328A>T (p.Ile110Phe) n.814A>T c.331A>T (p.Ile111Phe) c.325A>T (p.Ile109Phe) | |
| 7 | g.44152306T>C | CA367402667 | GCK | c.*326A>G (n.*326A>G) c.328A>G (p.Ile110Val) n.814A>G c.331A>G (p.Ile111Val) c.325A>G (p.Ile109Val) | |
| 7 | g.44152306T>G | CA367402665 | GCK | c.*326A>C (n.*326A>C) c.328A>C (p.Ile110Leu) n.814A>C c.331A>C (p.Ile111Leu) c.325A>C (p.Ile109Leu) | |
| 7 | g.44152307G>A | CA454610201 | GCK | c.*325C>T (n.*325C>T) c.327C>T (p.Ser109=) n.813C>T c.330C>T (p.Ser110=) c.324C>T (p.Ser108=) | |
| 7 | g.44152307G>C | CA454610202 | GCK | c.*325C>G (n.*325C>G) c.327C>G (p.Ser109=) n.813C>G c.330C>G (p.Ser110=) c.324C>G (p.Ser108=) | |
| 7 | g.44152307G= | CA1703637043 | GCK | c.*325C= (n.*325C=) c.327C= (p.Ser109=) n.813C= c.330C= (p.Ser110=) c.324C= (p.Ser108=) | |
| 7 | g.44152307G>T | CA157919194 | GCK | c.*325C>A (n.*325C>A) c.327C>A (p.Ser109=) n.813C>A c.330C>A (p.Ser110=) c.324C>A (p.Ser108=) | dbSNP |
| 7 | g.44152308del | CA645372114 | GCK | c.*325del (n.*325del) c.327del (p.Ile110SerfsTer6) n.813del c.330del (p.Ile111SerfsTer6) c.324del (p.Ile109SerfsTer6) | |
| 7 | g.44152308G>A | CA367402671 | GCK | c.*324C>T (n.*324C>T) c.326C>T (p.Ser109Phe) n.812C>T c.329C>T (p.Ser110Phe) c.323C>T (p.Ser108Phe) | |
| 7 | g.44152308G>C | CA367402673 | GCK | c.*324C>G (n.*324C>G) c.326C>G (p.Ser109Cys) n.812C>G c.329C>G (p.Ser110Cys) c.323C>G (p.Ser108Cys) | |
| 7 | g.44152308G>T | CA367402675 | GCK | c.*324C>A (n.*324C>A) c.326C>A (p.Ser109Tyr) n.812C>A c.329C>A (p.Ser110Tyr) c.323C>A (p.Ser108Tyr) | |
| 7 | g.44152309A>C | CA367402676 | GCK | c.*323T>G (n.*323T>G) c.325T>G (p.Ser109Ala) n.811T>G c.328T>G (p.Ser110Ala) c.322T>G (p.Ser108Ala) | |
| 7 | g.44152309A>G | CA367402677 | GCK | c.*323T>C (n.*323T>C) c.325T>C (p.Ser109Pro) n.811T>C c.328T>C (p.Ser110Pro) c.322T>C (p.Ser108Pro) | |
| 7 | g.44152309A>T | CA367402678 | GCK | c.*323T>A (n.*323T>A) c.325T>A (p.Ser109Thr) n.811T>A c.328T>A (p.Ser110Thr) c.322T>A (p.Ser108Thr) | |
| 7 | g.44152310G>A | CA4239677 | GCK | c.*322C>T (n.*322C>T) c.324C>T (p.Tyr108=) n.810C>T c.327C>T (p.Tyr109=) c.321C>T (p.Tyr107=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44152310G>C | CA367402679 | GCK | c.*322C>G (n.*322C>G) c.324C>G (p.Tyr108Ter) n.810C>G c.327C>G (p.Tyr109Ter) c.321C>G (p.Tyr107Ter) | |
| 7 | g.44152310G= | CA1703637044 | GCK | c.*322C= (n.*322C=) c.324C= (p.Tyr108=) n.810C= c.327C= (p.Tyr109=) c.321C= (p.Tyr107=) | |
| 7 | g.44152310G>T | CA367402681 | GCK | c.*322C>A (n.*322C>A) c.324C>A (p.Tyr108Ter) n.810C>A c.327C>A (p.Tyr109Ter) c.321C>A (p.Tyr107Ter) | ClinVar |
| 7 | g.44152311T>A | CA367402683 | GCK | c.*321A>T (n.*321A>T) c.323A>T (p.Tyr108Phe) n.809A>T c.326A>T (p.Tyr109Phe) c.320A>T (p.Tyr107Phe) | ClinVar |
| 7 | g.44152311T>C | CA367402684 | GCK | c.*321A>G (n.*321A>G) c.323A>G (p.Tyr108Cys) n.809A>G c.326A>G (p.Tyr109Cys) c.320A>G (p.Tyr107Cys) | ClinVar |
| 7 | g.44152311T>G | CA367402686 | GCK | c.*321A>C (n.*321A>C) c.323A>C (p.Tyr108Ser) n.809A>C c.326A>C (p.Tyr109Ser) c.320A>C (p.Tyr107Ser) | |
| 7 | g.44152312A= | CA1703637045 | GCK | c.*320T= (n.*320T=) c.322T= (p.Tyr108=) n.808T= c.325T= (p.Tyr109=) c.319T= (p.Tyr107=) | |
| 7 | g.44152312A>C | CA213777 | GCK | c.*320T>G (n.*320T>G) c.322T>G (p.Tyr108Asp) n.808T>G c.325T>G (p.Tyr109Asp) c.319T>G (p.Tyr107Asp) | ClinVar dbSNP |
| 7 | g.44152312A>G | CA367402690 | GCK | c.*320T>C (n.*320T>C) c.322T>C (p.Tyr108His) n.808T>C c.325T>C (p.Tyr109His) c.319T>C (p.Tyr107His) | ClinVar dbSNP gnomAD v4 |
| 7 | g.44152312A>T | CA367402688 | GCK | c.*320T>A (n.*320T>A) c.322T>A (p.Tyr108Asn) n.808T>A c.325T>A (p.Tyr109Asn) c.319T>A (p.Tyr107Asn) | |
| 7 | g.44152313C>A | CA367402692 | GCK | c.*319G>T (n.*319G>T) c.321G>T (p.Met107Ile) n.807G>T c.324G>T (p.Met108Ile) c.318G>T (p.Met106Ile) | |
| 7 | g.44152313C>G | CA367402695 | GCK | c.*319G>C (n.*319G>C) c.321G>C (p.Met107Ile) n.807G>C c.324G>C (p.Met108Ile) c.318G>C (p.Met106Ile) | |
| 7 | g.44152313C>T | CA367402694 | GCK | c.*319G>A (n.*319G>A) c.321G>A (p.Met107Ile) n.807G>A c.324G>A (p.Met108Ile) c.318G>A (p.Met106Ile) | |
| 7 | g.44152314A>C | CA367402697 | GCK | c.*318T>G (n.*318T>G) c.320T>G (p.Met107Arg) n.806T>G c.323T>G (p.Met108Arg) c.317T>G (p.Met106Arg) | |
| 7 | g.44152314A>G | CA367402699 | GCK | c.*318T>C (n.*318T>C) c.320T>C (p.Met107Thr) n.806T>C c.323T>C (p.Met108Thr) c.317T>C (p.Met106Thr) | gnomAD v4 |
| 7 | g.44152314A>T | CA367402700 | GCK | c.*318T>A (n.*318T>A) c.320T>A (p.Met107Lys) n.806T>A c.323T>A (p.Met108Lys) c.317T>A (p.Met106Lys) | |
| 7 | g.44152314dup | CA2573142147 | GCK | c.*318dup (n.*318dup) c.320dup (p.Met107IlefsTer14) n.806dup c.323dup (p.Met108IlefsTer14) c.317dup (p.Met106IlefsTer14) | ClinVar dbSNP |
| 7 | g.44152315T>A | CA367402702 | GCK | c.*317A>T (n.*317A>T) c.319A>T (p.Met107Leu) n.805A>T c.322A>T (p.Met108Leu) c.316A>T (p.Met106Leu) | |
| 7 | g.44152315T>C | CA367402704 | GCK | c.*317A>G (n.*317A>G) c.319A>G (p.Met107Val) n.805A>G c.322A>G (p.Met108Val) c.316A>G (p.Met106Val) | |
| 7 | g.44152315T>G | CA367402705 | GCK | c.*317A>C (n.*317A>C) c.319A>C (p.Met107Leu) n.805A>C c.322A>C (p.Met108Leu) c.316A>C (p.Met106Leu) | |
| 7 | g.44152315_44152317del | CA2695202990 | GCK | c.*315_*317del (n.*315_*317del) c.317_319del (p.Gln106_Met107delinsLeu) n.803_805del c.320_322del (p.Gln107_Met108delinsLeu) c.314_316del (p.Gln105_Met106delinsLeu) | |
| 7 | g.44152316C>A | CA367402708 | GCK | c.*316G>T (n.*316G>T) c.318G>T (p.Gln106His) n.804G>T c.321G>T (p.Gln107His) c.315G>T (p.Gln105His) | |
| 7 | g.44152316C>G | CA367402709 | GCK | c.*316G>C (n.*316G>C) c.318G>C (p.Gln106His) n.804G>C c.321G>C (p.Gln107His) c.315G>C (p.Gln105His) | ClinVar COSMIC COSMIC |
| 7 | g.44152316C>T | CA454610207 | GCK | c.*316G>A (n.*316G>A) c.318G>A (p.Gln106=) n.804G>A c.321G>A (p.Gln107=) c.315G>A (p.Gln105=) | |
| 7 | g.44152317del | CA2573052881 | GCK | c.*315del (n.*315del) c.317del (p.Gln106ArgfsTer10) n.803del c.320del (p.Gln107ArgfsTer10) c.314del (p.Gln105ArgfsTer10) | ClinVar dbSNP |
| 7 | g.44152317T>A | CA367402711 | GCK | c.*315A>T (n.*315A>T) c.317A>T (p.Gln106Leu) n.803A>T c.320A>T (p.Gln107Leu) c.314A>T (p.Gln105Leu) | |
| 7 | g.44152317T>C | CA367402712 | GCK | c.*315A>G (n.*315A>G) c.317A>G (p.Gln106Arg) n.803A>G c.320A>G (p.Gln107Arg) c.314A>G (p.Gln105Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44152317T>G | CA367402714 | GCK | c.*315A>C (n.*315A>C) c.317A>C (p.Gln106Pro) n.803A>C c.320A>C (p.Gln107Pro) c.314A>C (p.Gln105Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44152317T= | CA1703637046 | GCK | c.*315A= (n.*315A=) c.317A= (p.Gln106=) n.803A= c.320A= (p.Gln107=) c.314A= (p.Gln105=) | |
| 7 | g.44152318G>A | CA367402719 | GCK | c.*314C>T (n.*314C>T) c.316C>T (p.Gln106Ter) n.802C>T c.319C>T (p.Gln107Ter) c.313C>T (p.Gln105Ter) | ClinVar dbSNP gnomAD v4 |
| 7 | g.44152318G>C | CA367402716 | GCK | c.*314C>G (n.*314C>G) c.316C>G (p.Gln106Glu) n.802C>G c.319C>G (p.Gln107Glu) c.313C>G (p.Gln105Glu) | |
| 7 | g.44152318G= | CA1703637047 | GCK | c.*314C= (n.*314C=) c.316C= (p.Gln106=) n.802C= c.319C= (p.Gln107=) c.313C= (p.Gln105=) | |
| 7 | g.44152318G>T | CA367402718 | GCK | c.*314C>A (n.*314C>A) c.316C>A (p.Gln106Lys) n.802C>A c.319C>A (p.Gln107Lys) c.313C>A (p.Gln105Lys) | |
| 7 | g.44152319G>A | CA4239678 | GCK | c.*313C>T (n.*313C>T) c.315C>T (p.His105=) n.801C>T c.318C>T (p.His106=) c.312C>T (p.His104=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44152319G>C | CA367402723 | GCK | c.*313C>G (n.*313C>G) c.315C>G (p.His105Gln) n.801C>G c.318C>G (p.His106Gln) c.312C>G (p.His104Gln) | |
| 7 | g.44152319G= | CA1703637048 | GCK | c.*313C= (n.*313C=) c.315C= (p.His105=) n.801C= c.318C= (p.His106=) c.312C= (p.His104=) | |
| 7 | g.44152319G>T | CA367402724 | GCK | c.*313C>A (n.*313C>A) c.315C>A (p.His105Gln) n.801C>A c.318C>A (p.His106Gln) c.312C>A (p.His104Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44152320T>A | CA367402726 | GCK | c.*312A>T (n.*312A>T) c.314A>T (p.His105Leu) n.800A>T c.317A>T (p.His106Leu) c.311A>T (p.His104Leu) | |
| 7 | g.44152320T>C | CA367402728 | GCK | c.*312A>G (n.*312A>G) c.314A>G (p.His105Arg) n.800A>G c.317A>G (p.His106Arg) c.311A>G (p.His104Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44152320T>G | CA367402729 | GCK | c.*312A>C (n.*312A>C) c.314A>C (p.His105Pro) n.800A>C c.317A>C (p.His106Pro) c.311A>C (p.His104Pro) | |
| 7 | g.44152320T= | CA1703637049 | GCK | c.*312A= (n.*312A=) c.314A= (p.His105=) n.800A= c.317A= (p.His106=) c.311A= (p.His104=) | |
| 7 | g.44152322_44152325del | CA2695202994 | GCK | c.*309_*312del (n.*309_*312del) c.311_314del (p.Lys104ThrfsTer11) n.797_800del c.314_317del (p.Lys105ThrfsTer11) c.308_311del (p.Lys103ThrfsTer11) | |
| 7 | g.44152321del | CA2695202995 | GCK | c.*311del (n.*311del) c.313del (p.His105ThrfsTer11) n.799del c.316del (p.His106ThrfsTer11) c.310del (p.His104ThrfsTer11) | |
| 7 | g.44152321G>A | CA367402731 | GCK | c.*311C>T (n.*311C>T) c.313C>T (p.His105Tyr) n.799C>T c.316C>T (p.His106Tyr) c.310C>T (p.His104Tyr) | gnomAD v4 |
| 7 | g.44152321G>C | CA367402733 | GCK | c.*311C>G (n.*311C>G) c.313C>G (p.His105Asp) n.799C>G c.316C>G (p.His106Asp) c.310C>G (p.His104Asp) | |
| 7 | g.44152321G>T | CA367402734 | GCK | c.*311C>A (n.*311C>A) c.313C>A (p.His105Asn) n.799C>A c.316C>A (p.His106Asn) c.310C>A (p.His104Asn) | dbSNP |
| 7 | g.44152329_44152330insCCGTTTGGTCT | CA2695202996 | GCK | c.*311_*312insGGAGACCAAAC (n.*311_*312insGGAGACCAAAC) c.313_314insGGAGACCAAAC (p.His105ArgfsTer15) n.799_800insGGAGACCAAAC c.316_317insGGAGACCAAAC (p.His106ArgfsTer15) c.310_311insGGAGACCAAAC (p.His104ArgfsTer15) | |
| 7 | g.44152322T>A | CA367402735 | GCK | c.*310A>T (n.*310A>T) c.312A>T (p.Lys104Asn) n.798A>T c.315A>T (p.Lys105Asn) c.309A>T (p.Lys103Asn) | |
| 7 | g.44152322T>C | CA454610212 | GCK | c.*310A>G (n.*310A>G) c.312A>G (p.Lys104=) n.798A>G c.315A>G (p.Lys105=) c.309A>G (p.Lys103=) | |
| 7 | g.44152322T>G | CA367402736 | GCK | c.*310A>C (n.*310A>C) c.312A>C (p.Lys104Asn) n.798A>C c.315A>C (p.Lys105Asn) c.309A>C (p.Lys103Asn) | |
| 7 | g.44152323T>A | CA367402739 | GCK | c.*309A>T (n.*309A>T) c.311A>T (p.Lys104Ile) n.797A>T c.314A>T (p.Lys105Ile) c.308A>T (p.Lys103Ile) | |
| 7 | g.44152323T>C | CA367402740 | GCK | c.*309A>G (n.*309A>G) c.311A>G (p.Lys104Arg) n.797A>G c.314A>G (p.Lys105Arg) c.308A>G (p.Lys103Arg) | |
| 7 | g.44152323T>G | CA367402738 | GCK | c.*309A>C (n.*309A>C) c.311A>C (p.Lys104Thr) n.797A>C c.314A>C (p.Lys105Thr) c.308A>C (p.Lys103Thr) | |
| 7 | g.44152324T>A | CA367402742 | GCK | c.*308A>T (n.*308A>T) c.310A>T (p.Lys104Ter) n.796A>T c.313A>T (p.Lys105Ter) c.307A>T (p.Lys103Ter) | |
| 7 | g.44152324T>C | CA367402743 | GCK | c.*308A>G (n.*308A>G) c.310A>G (p.Lys104Glu) n.796A>G c.313A>G (p.Lys105Glu) c.307A>G (p.Lys103Glu) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44152324T>G | CA367402745 | GCK | c.*308A>C (n.*308A>C) c.310A>C (p.Lys104Gln) n.796A>C c.313A>C (p.Lys105Gln) c.307A>C (p.Lys103Gln) | |
| 7 | g.44152324T= | CA1703637050 | GCK | c.*308A= (n.*308A=) c.310A= (p.Lys104=) n.796A= c.313A= (p.Lys105=) c.307A= (p.Lys103=) | |
| 7 | g.44152325G>A | CA454610215 | GCK | c.*307C>T (n.*307C>T) c.309C>T (p.Thr103=) n.795C>T c.312C>T (p.Thr104=) c.306C>T (p.Thr102=) | |
| 7 | g.44152325G>C | CA454610216 | GCK | c.*307C>G (n.*307C>G) c.309C>G (p.Thr103=) n.795C>G c.312C>G (p.Thr104=) c.306C>G (p.Thr102=) | |
| 7 | g.44152325G>T | CA454610218 | GCK | c.*307C>A (n.*307C>A) c.309C>A (p.Thr103=) n.795C>A c.312C>A (p.Thr104=) c.306C>A (p.Thr102=) | |
| 7 | g.44152326G>A | CA367402747 | GCK | c.*306C>T (n.*306C>T) c.308C>T (p.Thr103Ile) n.794C>T c.311C>T (p.Thr104Ile) c.305C>T (p.Thr102Ile) | |
| 7 | g.44152326G>C | CA367402748 | GCK | c.*306C>G (n.*306C>G) c.308C>G (p.Thr103Ser) n.794C>G c.311C>G (p.Thr104Ser) c.305C>G (p.Thr102Ser) | ClinVar gnomAD v4 |
| 7 | g.44152326G= | CA1703637051 | GCK | c.*306C= (n.*306C=) c.308C= (p.Thr103=) n.794C= c.311C= (p.Thr104=) c.305C= (p.Thr102=) | |
| 7 | g.44152326G>T | CA367402750 | GCK | c.*306C>A (n.*306C>A) c.308C>A (p.Thr103Asn) n.794C>A c.311C>A (p.Thr104Asn) c.305C>A (p.Thr102Asn) | dbSNP |
| 7 | g.44152327del | CA2573142148 | GCK | c.*305del (n.*305del) c.307del (p.Thr103ProfsTer13) n.793del c.310del (p.Thr104ProfsTer13) c.304del (p.Thr102ProfsTer13) | ClinVar dbSNP |
| 7 | g.44152327T>A | CA367402757 | GCK | c.*305A>T (n.*305A>T) c.307A>T (p.Thr103Ser) n.793A>T c.310A>T (p.Thr104Ser) c.304A>T (p.Thr102Ser) | ClinVar dbSNP |
| 7 | g.44152327T>C | CA367402755 | GCK | c.*305A>G (n.*305A>G) c.307A>G (p.Thr103Ala) n.793A>G c.310A>G (p.Thr104Ala) c.304A>G (p.Thr102Ala) | gnomAD v4 |
| 7 | g.44152327T>G | CA367402756 | GCK | c.*305A>C (n.*305A>C) c.307A>C (p.Thr103Pro) n.793A>C c.310A>C (p.Thr104Pro) c.304A>C (p.Thr102Pro) | |
| 7 | g.44152327T= | CA1703637052 | GCK | c.*305A= (n.*305A=) c.307A= (p.Thr103=) n.793A= c.310A= (p.Thr104=) c.304A= (p.Thr102=) | |
| 7 | g.44152328C>A | CA367402759 | GCK | c.*304G>T (n.*304G>T) c.306G>T (p.Lys102Asn) n.792G>T c.309G>T (p.Lys103Asn) c.303G>T (p.Lys101Asn) | |
| 7 | g.44152328C>G | CA367402761 | GCK | c.*304G>C (n.*304G>C) c.306G>C (p.Lys102Asn) n.792G>C c.309G>C (p.Lys103Asn) c.303G>C (p.Lys101Asn) | gnomAD v4 |
| 7 | g.44152328C>T | CA454610224 | GCK | c.*304G>A (n.*304G>A) c.306G>A (p.Lys102=) n.792G>A c.309G>A (p.Lys103=) c.303G>A (p.Lys101=) | gnomAD v4 |
| 7 | g.44152329T>A | CA367402763 | GCK | c.*303A>T (n.*303A>T) c.305A>T (p.Lys102Met) n.791A>T c.308A>T (p.Lys103Met) c.302A>T (p.Lys101Met) | |
| 7 | g.44152329T>C | CA367402764 | GCK | c.*303A>G (n.*303A>G) c.305A>G (p.Lys102Arg) n.791A>G c.308A>G (p.Lys103Arg) c.302A>G (p.Lys101Arg) | |
| 7 | g.44152329T>G | CA367402765 | GCK | c.*303A>C (n.*303A>C) c.305A>C (p.Lys102Thr) n.791A>C c.308A>C (p.Lys103Thr) c.302A>C (p.Lys101Thr) | dbSNP |
| 7 | g.44152329T= | CA1703637053 | GCK | c.*303A= (n.*303A=) c.305A= (p.Lys102=) n.791A= c.308A= (p.Lys103=) c.302A= (p.Lys101=) | |
| 7 | g.44152330T>A | CA213775 | GCK | c.*302A>T (n.*302A>T) c.304A>T (p.Lys102Ter) n.790A>T c.307A>T (p.Lys103Ter) c.301A>T (p.Lys101Ter) | ClinVar dbSNP |
| 7 | g.44152330T>C | CA367402771 | GCK | c.*302A>G (n.*302A>G) c.304A>G (p.Lys102Glu) n.790A>G c.307A>G (p.Lys103Glu) c.301A>G (p.Lys101Glu) | |
| 7 | g.44152330T>G | CA367402769 | GCK | c.*302A>C (n.*302A>C) c.304A>C (p.Lys102Gln) n.790A>C c.307A>C (p.Lys103Gln) c.301A>C (p.Lys101Gln) | |
| 7 | g.44152330T= | CA1703637054 | GCK | c.*302A= (n.*302A=) c.304A= (p.Lys102=) n.790A= c.307A= (p.Lys103=) c.301A= (p.Lys101=) | |
| 7 | g.44152331C>A | CA454610230 | GCK | c.*301G>T (n.*301G>T) c.303G>T (p.Val101=) n.789G>T c.306G>T (p.Val102=) c.300G>T (p.Val100=) | |
| 7 | g.44152331C>G | CA454610231 | GCK | c.*301G>C (n.*301G>C) c.303G>C (p.Val101=) n.789G>C c.306G>C (p.Val102=) c.300G>C (p.Val100=) | |
| 7 | g.44152331C>T | CA454610232 | GCK | c.*301G>A (n.*301G>A) c.303G>A (p.Val101=) n.789G>A c.306G>A (p.Val102=) c.300G>A (p.Val100=) | gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44152332A= | CA1703637055 | GCK | c.*300T= (n.*300T=) c.302T= (p.Val101=) n.788T= c.305T= (p.Val102=) c.299T= (p.Val100=) | |
| 7 | g.44152332A>C | CA367402773 | GCK | c.*300T>G (n.*300T>G) c.302T>G (p.Val101Gly) n.788T>G c.305T>G (p.Val102Gly) c.299T>G (p.Val100Gly) | |
| 7 | g.44152332A>G | CA367402774 | GCK | c.*300T>C (n.*300T>C) c.302T>C (p.Val101Ala) n.788T>C c.305T>C (p.Val102Ala) c.299T>C (p.Val100Ala) | dbSNP |
| 7 | g.44152332A>T | CA367402776 | GCK | c.*300T>A (n.*300T>A) c.302T>A (p.Val101Glu) n.788T>A c.305T>A (p.Val102Glu) c.299T>A (p.Val100Glu) | |
| 7 | g.44152333del | CA2695202998 | GCK | c.*299del (n.*299del) c.301del (p.Val101Ter) n.787del c.304del (p.Val102Ter) c.298del (p.Val100Ter) | |
| 7 | g.44152333C>A | CA367402778 | GCK | c.*299G>T (n.*299G>T) c.301G>T (p.Val101Leu) n.787G>T c.304G>T (p.Val102Leu) c.298G>T (p.Val100Leu) | ClinVar |
| 7 | g.44152333C= | CA1703637056 | GCK | c.*299G= (n.*299G=) c.301G= (p.Val101=) n.787G= c.304G= (p.Val102=) c.298G= (p.Val100=) | |
| 7 | g.44152333C>G | CA367402780 | GCK | c.*299G>C (n.*299G>C) c.301G>C (p.Val101Leu) n.787G>C c.304G>C (p.Val102Leu) c.298G>C (p.Val100Leu) | |
| 7 | g.44152333C>T | CA4239679 | GCK | c.*299G>A (n.*299G>A) c.301G>A (p.Val101Met) n.787G>A c.304G>A (p.Val102Met) c.298G>A (p.Val100Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44152334G>A | CA4239680 | GCK | c.*298C>T (n.*298C>T) c.300C>T (p.Ser100=) n.786C>T c.303C>T (p.Ser101=) c.297C>T (p.Ser99=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44152334G>C | CA367402783 | GCK | c.*298C>G (n.*298C>G) c.300C>G (p.Ser100Arg) n.786C>G c.303C>G (p.Ser101Arg) c.297C>G (p.Ser99Arg) | |
| 7 | g.44152334G= | CA1703637057 | GCK | c.*298C= (n.*298C=) c.300C= (p.Ser100=) n.786C= c.303C= (p.Ser101=) c.297C= (p.Ser99=) | |
| 7 | g.44152334G>T | CA367402785 | GCK | c.*298C>A (n.*298C>A) c.300C>A (p.Ser100Arg) n.786C>A c.303C>A (p.Ser101Arg) c.297C>A (p.Ser99Arg) | |
| 7 | g.44152335C>A | CA367402787 | GCK | c.*297G>T (n.*297G>T) c.299G>T (p.Ser100Ile) n.785G>T c.302G>T (p.Ser101Ile) c.296G>T (p.Ser99Ile) | |
| 7 | g.44152335C>G | CA367402788 | GCK | c.*297G>C (n.*297G>C) c.299G>C (p.Ser100Thr) n.785G>C c.302G>C (p.Ser101Thr) c.296G>C (p.Ser99Thr) | |
| 7 | g.44152335C>T | CA367402789 | GCK | c.*297G>A (n.*297G>A) c.299G>A (p.Ser100Asn) n.785G>A c.302G>A (p.Ser101Asn) c.296G>A (p.Ser99Asn) | |
| 7 | g.44152339_44152360del | CA2695203001 | GCK | c.*276_*297del (n.*276_*297del) c.278_299del (p.Glu93AlafsTer2) n.764_785del c.281_302del (p.Glu94AlafsTer2) c.275_296del (p.Glu92AlafsTer2) | |
| 7 | g.44152336del | CA2695203002 | GCK | c.*296del (n.*296del) c.298del (p.Ser100AlafsTer2) n.784del c.301del (p.Ser101AlafsTer2) c.295del (p.Ser99AlafsTer2) | |
| 7 | g.44152336T>A | CA367402793 | GCK | c.*296A>T (n.*296A>T) c.298A>T (p.Ser100Cys) n.784A>T c.301A>T (p.Ser101Cys) c.295A>T (p.Ser99Cys) | |
| 7 | g.44152336T>C | CA367402795 | GCK | c.*296A>G (n.*296A>G) c.298A>G (p.Ser100Gly) n.784A>G c.301A>G (p.Ser101Gly) c.295A>G (p.Ser99Gly) | dbSNP gnomAD v4 |
| 7 | g.44152336T>G | CA367402792 | GCK | c.*296A>C (n.*296A>C) c.298A>C (p.Ser100Arg) n.784A>C c.301A>C (p.Ser101Arg) c.295A>C (p.Ser99Arg) | |
| 7 | g.44152336T= | CA1703637058 | GCK | c.*296A= (n.*296A=) c.298A= (p.Ser100=) n.784A= c.301A= (p.Ser101=) c.295A= (p.Ser99=) | |
| 7 | g.44152337C>A | CA367402799 | GCK | c.*295G>T (n.*295G>T) c.297G>T (p.Trp99Cys) n.783G>T c.300G>T (p.Trp100Cys) c.294G>T (p.Trp98Cys) | |
| 7 | g.44152337C>G | CA367402797 | GCK | c.*295G>C (n.*295G>C) c.297G>C (p.Trp99Cys) n.783G>C c.300G>C (p.Trp100Cys) c.294G>C (p.Trp98Cys) | |
| 7 | g.44152337C>T | CA367402801 | GCK | c.*295G>A (n.*295G>A) c.297G>A (p.Trp99Ter) n.783G>A c.300G>A (p.Trp100Ter) c.294G>A (p.Trp98Ter) | |
| 7 | g.44152338C>A | CA367402803 | GCK | c.*294G>T (n.*294G>T) c.296G>T (p.Trp99Leu) n.782G>T c.299G>T (p.Trp100Leu) c.293G>T (p.Trp98Leu) | |
| 7 | g.44152338C>G | CA367402806 | GCK | c.*294G>C (n.*294G>C) c.296G>C (p.Trp99Ser) n.782G>C c.299G>C (p.Trp100Ser) c.293G>C (p.Trp98Ser) | |
| 7 | g.44152338C>T | CA367402804 | GCK | c.*294G>A (n.*294G>A) c.296G>A (p.Trp99Ter) n.782G>A c.299G>A (p.Trp100Ter) c.293G>A (p.Trp98Ter) | ClinVar COSMIC COSMIC |
| 7 | g.44152338_44152339delinsCA | CA1703637059 | GCK | c.*293_*294delinsTG (n.*293_*294delinsTG) c.295_296delinsTG (p.Trp99=) n.781_782delinsTG c.298_299delinsTG (p.Trp100=) c.292_293delinsTG (p.Trp98=) | |
| 7 | g.44152339del | CA645372836 | GCK | c.*293del (n.*293del) c.295del (p.Trp99GlyfsTer3) n.781del c.298del (p.Trp100GlyfsTer3) c.292del (p.Trp98GlyfsTer3) | ClinVar dbSNP |
| 7 | g.44152339A= | CA1703637060 | GCK | c.*293T= (n.*293T=) c.295T= (p.Trp99=) n.781T= c.298T= (p.Trp100=) c.292T= (p.Trp98=) | |
| 7 | g.44152339A>C | CA367402808 | GCK | c.*293T>G (n.*293T>G) c.295T>G (p.Trp99Gly) n.781T>G c.298T>G (p.Trp100Gly) c.292T>G (p.Trp98Gly) | |
| 7 | g.44152339A>G | CA367402811 | GCK | c.*293T>C (n.*293T>C) c.295T>C (p.Trp99Arg) n.781T>C c.298T>C (p.Trp100Arg) c.292T>C (p.Trp98Arg) | ClinVar dbSNP |
| 7 | g.44152339A>T | CA367402810 | GCK | c.*293T>A (n.*293T>A) c.295T>A (p.Trp99Arg) n.781T>A c.298T>A (p.Trp100Arg) c.292T>A (p.Trp98Arg) | |
| 7 | g.44152340C>A | CA367402812 | GCK | c.*292G>T (n.*292G>T) c.294G>T (p.Gln98His) n.780G>T c.297G>T (p.Gln99His) c.291G>T (p.Gln97His) | |
| 7 | g.44152340C>G | CA367402813 | GCK | c.*292G>C (n.*292G>C) c.294G>C (p.Gln98His) n.780G>C c.297G>C (p.Gln99His) c.291G>C (p.Gln97His) | |
| 7 | g.44152340C>T | CA454610247 | GCK | c.*292G>A (n.*292G>A) c.294G>A (p.Gln98=) n.780G>A c.297G>A (p.Gln99=) c.291G>A (p.Gln97=) | gnomAD v4 |
| 7 | g.44152341T>A | CA367402814 | GCK | c.*291A>T (n.*291A>T) c.293A>T (p.Gln98Leu) n.779A>T c.296A>T (p.Gln99Leu) c.290A>T (p.Gln97Leu) | |
| 7 | g.44152341T>C | CA367402815 | GCK | c.*291A>G (n.*291A>G) c.293A>G (p.Gln98Arg) n.779A>G c.296A>G (p.Gln99Arg) c.290A>G (p.Gln97Arg) | |
| 7 | g.44152341T>G | CA367402817 | GCK | c.*291A>C (n.*291A>C) c.293A>C (p.Gln98Pro) n.779A>C c.296A>C (p.Gln99Pro) c.290A>C (p.Gln97Pro) | |
| 7 | g.44152341dup | CA2695203003 | GCK | c.*291dup (n.*291dup) c.293dup (p.Trp99ValfsTer22) n.779dup c.296dup (p.Trp100ValfsTer22) c.290dup (p.Trp98ValfsTer22) | |
| 7 | g.44152342G>A | CA367402818 | GCK | c.*290C>T (n.*290C>T) c.292C>T (p.Gln98Ter) n.778C>T c.295C>T (p.Gln99Ter) c.289C>T (p.Gln97Ter) | ClinVar |
| 7 | g.44152342G>C | CA367402819 | GCK | c.*290C>G (n.*290C>G) c.292C>G (p.Gln98Glu) n.778C>G c.295C>G (p.Gln99Glu) c.289C>G (p.Gln97Glu) | |
| 7 | g.44152342G>T | CA367402820 | GCK | c.*290C>A (n.*290C>A) c.292C>A (p.Gln98Lys) n.778C>A c.295C>A (p.Gln99Lys) c.289C>A (p.Gln97Lys) | |
| 7 | g.44152342_44152343delinsGC | CA1703637061 | GCK | c.*289_*290delinsGC (n.*289_*290delinsGC) c.291_292delinsGC (p.Gly97=) n.777_778delinsGC c.294_295delinsGC (p.Gly98=) c.288_289delinsGC (p.Gly96=) | |
| 7 | g.44152343C>A | CA454610252 | GCK | c.*289G>T (n.*289G>T) c.291G>T (p.Gly97=) n.777G>T c.294G>T (p.Gly98=) c.288G>T (p.Gly96=) | |
| 7 | g.44152343C>G | CA454610250 | GCK | c.*289G>C (n.*289G>C) c.291G>C (p.Gly97=) n.777G>C c.294G>C (p.Gly98=) c.288G>C (p.Gly96=) | |
| 7 | g.44152343C>T | CA454610251 | GCK | c.*289G>A (n.*289G>A) c.291G>A (p.Gly97=) n.777G>A c.294G>A (p.Gly98=) c.288G>A (p.Gly96=) | |
| 7 | g.44152346dup | CA2695203004 | GCK | c.*289dup (n.*289dup) c.291dup (p.Gln98AlafsTer23) n.777dup c.294dup (p.Gln99AlafsTer23) c.288dup (p.Gln97AlafsTer23) | |
| 7 | g.44152346del | CA891843081 | GCK | c.*289del (n.*289del) c.291del (p.Gln98SerfsTer4) n.777del c.294del (p.Gln99SerfsTer4) c.288del (p.Gln97SerfsTer4) | ClinVar dbSNP |
| 7 | g.44152344C>A | CA367402826 | GCK | c.*288G>T (n.*288G>T) c.290G>T (p.Gly97Val) n.776G>T c.293G>T (p.Gly98Val) c.287G>T (p.Gly96Val) | |
| 7 | g.44152344C= | CA1703637062 | GCK | c.*288G= (n.*288G=) c.290G= (p.Gly97=) n.776G= c.293G= (p.Gly98=) c.287G= (p.Gly96=) | |
| 7 | g.44152344C>G | CA367402822 | GCK | c.*288G>C (n.*288G>C) c.290G>C (p.Gly97Ala) n.776G>C c.293G>C (p.Gly98Ala) c.287G>C (p.Gly96Ala) | gnomAD v4 |
| 7 | g.44152344C>T | CA367402824 | GCK | c.*288G>A (n.*288G>A) c.290G>A (p.Gly97Glu) n.776G>A c.293G>A (p.Gly98Glu) c.287G>A (p.Gly96Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44152345C>A | CA367402827 | GCK | c.*287G>T (n.*287G>T) c.289G>T (p.Gly97Trp) n.775G>T c.292G>T (p.Gly98Trp) c.286G>T (p.Gly96Trp) | |
| 7 | g.44152345C= | CA1703637063 | GCK | c.*287G= (n.*287G=) c.289G= (p.Gly97=) n.775G= c.292G= (p.Gly98=) c.286G= (p.Gly96=) | |
| 7 | g.44152345C>G | CA367402829 | GCK | c.*287G>C (n.*287G>C) c.289G>C (p.Gly97Arg) n.775G>C c.292G>C (p.Gly98Arg) c.286G>C (p.Gly96Arg) | |
| 7 | g.44152345C>T | CA4239681 | GCK | c.*287G>A (n.*287G>A) c.289G>A (p.Gly97Arg) n.775G>A c.292G>A (p.Gly98Arg) c.286G>A (p.Gly96Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44152346C>A | CA367402831 | GCK | c.*286G>T (n.*286G>T) c.288G>T (p.Glu96Asp) n.774G>T c.291G>T (p.Glu97Asp) c.285G>T (p.Glu95Asp) | |
| 7 | g.44152346C>G | CA367402833 | GCK | c.*286G>C (n.*286G>C) c.288G>C (p.Glu96Asp) n.774G>C c.291G>C (p.Glu97Asp) c.285G>C (p.Glu95Asp) | |
| 7 | g.44152346C>T | CA454610254 | GCK | c.*286G>A (n.*286G>A) c.288G>A (p.Glu96=) n.774G>A c.291G>A (p.Glu97=) c.285G>A (p.Glu95=) | |
| 7 | g.44152347T>A | CA367402834 | GCK | c.*285A>T (n.*285A>T) c.287A>T (p.Glu96Val) n.773A>T c.290A>T (p.Glu97Val) c.284A>T (p.Glu95Val) | |
| 7 | g.44152347T>C | CA367402836 | GCK | c.*285A>G (n.*285A>G) c.287A>G (p.Glu96Gly) n.773A>G c.290A>G (p.Glu97Gly) c.284A>G (p.Glu95Gly) | |
| 7 | g.44152347T>G | CA367402835 | GCK | c.*285A>C (n.*285A>C) c.287A>C (p.Glu96Ala) n.773A>C c.290A>C (p.Glu97Ala) c.284A>C (p.Glu95Ala) | |
| 7 | g.44152348C>A | CA367402838 | GCK | c.*284G>T (n.*284G>T) c.286G>T (p.Glu96Ter) n.772G>T c.289G>T (p.Glu97Ter) c.283G>T (p.Glu95Ter) | ClinVar dbSNP |
| 7 | g.44152348C= | CA1703637064 | GCK | c.*284G= (n.*284G=) c.286G= (p.Glu96=) n.772G= c.289G= (p.Glu97=) c.283G= (p.Glu95=) | |
| 7 | g.44152348C>G | CA367402839 | GCK | c.*284G>C (n.*284G>C) c.286G>C (p.Glu96Gln) n.772G>C c.289G>C (p.Glu97Gln) c.283G>C (p.Glu95Gln) | |
| 7 | g.44152348C>T | CA367402841 | GCK | c.*284G>A (n.*284G>A) c.286G>A (p.Glu96Lys) n.772G>A c.289G>A (p.Glu97Lys) c.283G>A (p.Glu95Lys) | gnomAD v4 |
| 7 | g.44152349C>A | CA367402843 | GCK | c.*283G>T (n.*283G>T) c.285G>T (p.Glu95Asp) n.771G>T c.288G>T (p.Glu96Asp) c.282G>T (p.Glu94Asp) | |
| 7 | g.44152349C>G | CA367402845 | GCK | c.*283G>C (n.*283G>C) c.285G>C (p.Glu95Asp) n.771G>C c.288G>C (p.Glu96Asp) c.282G>C (p.Glu94Asp) | |
| 7 | g.44152349C>T | CA454610255 | GCK | c.*283G>A (n.*283G>A) c.285G>A (p.Glu95=) n.771G>A c.288G>A (p.Glu96=) c.282G>A (p.Glu94=) | |
| 7 | g.44152350_44152359dup | CA2695203005 | GCK | c.*274_*283dup (n.*274_*283dup) c.276_285dup (p.Glu96ArgfsTer3) n.762_771dup c.279_288dup (p.Glu97ArgfsTer3) c.273_282dup (p.Glu95ArgfsTer3) | |
| 7 | g.44152350T>A | CA367402846 | GCK | c.*282A>T (n.*282A>T) c.284A>T (p.Glu95Val) n.770A>T c.287A>T (p.Glu96Val) c.281A>T (p.Glu94Val) | |
| 7 | g.44152350T>C | CA4239682 | GCK | c.*282A>G (n.*282A>G) c.284A>G (p.Glu95Gly) n.770A>G c.287A>G (p.Glu96Gly) c.281A>G (p.Glu94Gly) | dbSNP ExAC |
| 7 | g.44152350T>G | CA367402849 | GCK | c.*282A>C (n.*282A>C) c.284A>C (p.Glu95Ala) n.770A>C c.287A>C (p.Glu96Ala) c.281A>C (p.Glu94Ala) | |
| 7 | g.44152350T= | CA1703637065 | GCK | c.*282A= (n.*282A=) c.284A= (p.Glu95=) n.770A= c.287A= (p.Glu96=) c.281A= (p.Glu94=) | |
| 7 | g.44152351C>A | CA367402850 | GCK | c.*281G>T (n.*281G>T) c.283G>T (p.Glu95Ter) n.769G>T c.286G>T (p.Glu96Ter) c.280G>T (p.Glu94Ter) | |
| 7 | g.44152351C>G | CA367402852 | GCK | c.*281G>C (n.*281G>C) c.283G>C (p.Glu95Gln) n.769G>C c.286G>C (p.Glu96Gln) c.280G>C (p.Glu94Gln) | |
| 7 | g.44152351C>T | CA367402853 | GCK | c.*281G>A (n.*281G>A) c.283G>A (p.Glu95Lys) n.769G>A c.286G>A (p.Glu96Lys) c.280G>A (p.Glu94Lys) | |
| 7 | g.44152358_44152367del | CA2695203006 | GCK | c.*272_*281del (n.*272_*281del) c.274_283del (p.Gly92ArgfsTer7) n.760_769del c.277_286del (p.Gly93ArgfsTer7) c.271_280del (p.Gly91ArgfsTer7) | |
| 7 | g.44152352A>C | CA454610256 | GCK | c.*280T>G (n.*280T>G) c.282T>G (p.Gly94=) n.768T>G c.285T>G (p.Gly95=) c.279T>G (p.Gly93=) | |
| 7 | g.44152352A>G | CA454610257 | GCK | c.*280T>C (n.*280T>C) c.282T>C (p.Gly94=) n.768T>C c.285T>C (p.Gly95=) c.279T>C (p.Gly93=) | gnomAD v4 |
| 7 | g.44152352A>T | CA454610258 | GCK | c.*280T>A (n.*280T>A) c.282T>A (p.Gly94=) n.768T>A c.285T>A (p.Gly95=) c.279T>A (p.Gly93=) | |
| 7 | g.44152353C>A | CA367402854 | GCK | c.*279G>T (n.*279G>T) c.281G>T (p.Gly94Val) n.767G>T c.284G>T (p.Gly95Val) c.278G>T (p.Gly93Val) | |
| 7 | g.44152353C>G | CA367402858 | GCK | c.*279G>C (n.*279G>C) c.281G>C (p.Gly94Ala) n.767G>C c.284G>C (p.Gly95Ala) c.278G>C (p.Gly93Ala) | |
| 7 | g.44152353C>T | CA367402856 | GCK | c.*279G>A (n.*279G>A) c.281G>A (p.Gly94Asp) n.767G>A c.284G>A (p.Gly95Asp) c.278G>A (p.Gly93Asp) | |
| 7 | g.44152354C>A | CA367402860 | GCK | c.*278G>T (n.*278G>T) c.280G>T (p.Gly94Cys) n.766G>T c.283G>T (p.Gly95Cys) c.277G>T (p.Gly93Cys) | |
| 7 | g.44152354C>G | CA367402862 | GCK | c.*278G>C (n.*278G>C) c.280G>C (p.Gly94Arg) n.766G>C c.283G>C (p.Gly95Arg) c.277G>C (p.Gly93Arg) | |
| 7 | g.44152354C>T | CA367402863 | GCK | c.*278G>A (n.*278G>A) c.280G>A (p.Gly94Ser) n.766G>A c.283G>A (p.Gly95Ser) c.277G>A (p.Gly93Ser) | |
| 7 | g.44152355T>A | CA367402864 | GCK | c.*277A>T (n.*277A>T) c.279A>T (p.Glu93Asp) n.765A>T c.282A>T (p.Glu94Asp) c.276A>T (p.Glu92Asp) | |
| 7 | g.44152355T>C | CA454610259 | GCK | c.*277A>G (n.*277A>G) c.279A>G (p.Glu93=) n.765A>G c.282A>G (p.Glu94=) c.276A>G (p.Glu92=) | |
| 7 | g.44152355T>G | CA367402865 | GCK | c.*277A>C (n.*277A>C) c.279A>C (p.Glu93Asp) n.765A>C c.282A>C (p.Glu94Asp) c.276A>C (p.Glu92Asp) | |
| 7 | g.44152356T>A | CA367402866 | GCK | c.*276A>T (n.*276A>T) c.278A>T (p.Glu93Val) n.764A>T c.281A>T (p.Glu94Val) c.275A>T (p.Glu92Val) | gnomAD v4 |
| 7 | g.44152356T>C | CA367402867 | GCK | c.*276A>G (n.*276A>G) c.278A>G (p.Glu93Gly) n.764A>G c.281A>G (p.Glu94Gly) c.275A>G (p.Glu92Gly) | |
| 7 | g.44152356T>G | CA367402868 | GCK | c.*276A>C (n.*276A>C) c.278A>C (p.Glu93Ala) n.764A>C c.281A>C (p.Glu94Ala) c.275A>C (p.Glu92Ala) | ClinVar |
| 7 | g.44152357C>A | CA367402869 | GCK | c.*275G>T (n.*275G>T) c.277G>T (p.Glu93Ter) n.763G>T c.280G>T (p.Glu94Ter) c.274G>T (p.Glu92Ter) | |
| 7 | g.44152357C>G | CA367402870 | GCK | c.*275G>C (n.*275G>C) c.277G>C (p.Glu93Gln) n.763G>C c.280G>C (p.Glu94Gln) c.274G>C (p.Glu92Gln) | |
| 7 | g.44152357C>T | CA367402871 | GCK | c.*275G>A (n.*275G>A) c.277G>A (p.Glu93Lys) n.763G>A c.280G>A (p.Glu94Lys) c.274G>A (p.Glu92Lys) | |
| 7 | g.44152358T>A | CA454610262 | GCK | c.*274A>T (n.*274A>T) c.276A>T (p.Gly92=) n.762A>T c.279A>T (p.Gly93=) c.273A>T (p.Gly91=) | |
| 7 | g.44152358T>C | CA454610263 | GCK | c.*274A>G (n.*274A>G) c.276A>G (p.Gly92=) n.762A>G c.279A>G (p.Gly93=) c.273A>G (p.Gly91=) | gnomAD v4 |
| 7 | g.44152358T>G | CA454610261 | GCK | c.*274A>C (n.*274A>C) c.276A>C (p.Gly92=) n.762A>C c.279A>C (p.Gly93=) c.273A>C (p.Gly91=) | |
| 7 | g.44152359C>A | CA367402878 | GCK | c.*273G>T (n.*273G>T) c.275G>T (p.Gly92Val) n.761G>T c.278G>T (p.Gly93Val) c.272G>T (p.Gly91Val) | COSMIC COSMIC COSMIC |
| 7 | g.44152359C>G | CA367402877 | GCK | c.*273G>C (n.*273G>C) c.275G>C (p.Gly92Ala) n.761G>C c.278G>C (p.Gly93Ala) c.272G>C (p.Gly91Ala) | |
| 7 | g.44152359C>T | CA367402873 | GCK | c.*273G>A (n.*273G>A) c.275G>A (p.Gly92Glu) n.761G>A c.278G>A (p.Gly93Glu) c.272G>A (p.Gly91Glu) | gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44152361_44152370del | CA2695203007 | GCK | c.*264_*273del (n.*264_*273del) c.266_275del (p.Val89GlufsTer10) n.752_761del c.269_278del (p.Val90GlufsTer10) c.263_272del (p.Val88GlufsTer10) | |
| 7 | g.44152360C>A | CA367402880 | GCK | c.*272G>T (n.*272G>T) c.274G>T (p.Gly92Ter) n.760G>T c.277G>T (p.Gly93Ter) c.271G>T (p.Gly91Ter) | |
| 7 | g.44152360C>G | CA367402881 | GCK | c.*272G>C (n.*272G>C) c.274G>C (p.Gly92Arg) n.760G>C c.277G>C (p.Gly93Arg) c.271G>C (p.Gly91Arg) | |
| 7 | g.44152360C>T | CA367402883 | GCK | c.*272G>A (n.*272G>A) c.274G>A (p.Gly92Arg) n.760G>A c.277G>A (p.Gly93Arg) c.271G>A (p.Gly91Arg) | |
| 7 | g.44152361C>A | CA454610264 | GCK | c.*271G>T (n.*271G>T) c.273G>T (p.Val91=) n.759G>T c.276G>T (p.Val92=) c.270G>T (p.Val90=) | |
| 7 | g.44152361C>G | CA454610265 | GCK | c.*271G>C (n.*271G>C) c.273G>C (p.Val91=) n.759G>C c.276G>C (p.Val92=) c.270G>C (p.Val90=) | |
| 7 | g.44152361C>T | CA454610266 | GCK | c.*271G>A (n.*271G>A) c.273G>A (p.Val91=) n.759G>A c.276G>A (p.Val92=) c.270G>A (p.Val90=) | gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44152362A>C | CA367402885 | GCK | c.*270T>G (n.*270T>G) c.272T>G (p.Val91Gly) n.758T>G c.275T>G (p.Val92Gly) c.269T>G (p.Val90Gly) | |
| 7 | g.44152362A>G | CA367402886 | GCK | c.*270T>C (n.*270T>C) c.272T>C (p.Val91Ala) n.758T>C c.275T>C (p.Val92Ala) c.269T>C (p.Val90Ala) | |
| 7 | g.44152362A>T | CA367402888 | GCK | c.*270T>A (n.*270T>A) c.272T>A (p.Val91Glu) n.758T>A c.275T>A (p.Val92Glu) c.269T>A (p.Val90Glu) | |
| 7 | g.44152363C>A | CA367402890 | GCK | c.*269G>T (n.*269G>T) c.271G>T (p.Val91Leu) n.757G>T c.274G>T (p.Val92Leu) c.268G>T (p.Val90Leu) | |
| 7 | g.44152363C>G | CA367402892 | GCK | c.*269G>C (n.*269G>C) c.271G>C (p.Val91Leu) n.757G>C c.274G>C (p.Val92Leu) c.268G>C (p.Val90Leu) | |
| 7 | g.44152363C>T | CA367402893 | GCK | c.*269G>A (n.*269G>A) c.271G>A (p.Val91Met) n.757G>A c.274G>A (p.Val92Met) c.268G>A (p.Val90Met) | gnomAD v4 |
| 7 | g.44152364C>A | CA367402895 | GCK | c.*268G>T (n.*268G>T) c.270G>T (p.Lys90Asn) n.756G>T c.273G>T (p.Lys91Asn) c.267G>T (p.Lys89Asn) | |
| 7 | g.44152364C= | CA1703637066 | GCK | c.*268G= (n.*268G=) c.270G= (p.Lys90=) n.756G= c.273G= (p.Lys91=) c.267G= (p.Lys89=) | |
| 7 | g.44152364C>G | CA367402896 | GCK | c.*268G>C (n.*268G>C) c.270G>C (p.Lys90Asn) n.756G>C c.273G>C (p.Lys91Asn) c.267G>C (p.Lys89Asn) | |
| 7 | g.44152364C>T | CA4239683 | GCK | c.*268G>A (n.*268G>A) c.270G>A (p.Lys90=) n.756G>A c.273G>A (p.Lys91=) c.267G>A (p.Lys89=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44152365T>A | CA367402901 | GCK | c.*267A>T (n.*267A>T) c.269A>T (p.Lys90Met) n.755A>T c.272A>T (p.Lys91Met) c.266A>T (p.Lys89Met) | |
| 7 | g.44152365T>C | CA367402903 | GCK | c.*267A>G (n.*267A>G) c.269A>G (p.Lys90Arg) n.755A>G c.272A>G (p.Lys91Arg) c.266A>G (p.Lys89Arg) | |
| 7 | g.44152365T>G | CA367402900 | GCK | c.*267A>C (n.*267A>C) c.269A>C (p.Lys90Thr) n.755A>C c.272A>C (p.Lys91Thr) c.266A>C (p.Lys89Thr) | ClinVar dbSNP |
| 7 | g.44152366T>A | CA367402908 | GCK | c.*266A>T (n.*266A>T) c.268A>T (p.Lys90Ter) n.754A>T c.271A>T (p.Lys91Ter) c.265A>T (p.Lys89Ter) | |
| 7 | g.44152366T>C | CA367402905 | GCK | c.*266A>G (n.*266A>G) c.268A>G (p.Lys90Glu) n.754A>G c.271A>G (p.Lys91Glu) c.265A>G (p.Lys89Glu) | |
| 7 | g.44152366T>G | CA367402906 | GCK | c.*266A>C (n.*266A>C) c.268A>C (p.Lys90Gln) n.754A>C c.271A>C (p.Lys91Gln) c.265A>C (p.Lys89Gln) | |
| 7 | g.44152367C>A | CA454610267 | GCK | c.*265G>T (n.*265G>T) c.267G>T (p.Val89=) n.753G>T c.270G>T (p.Val90=) c.264G>T (p.Val88=) | COSMIC COSMIC COSMIC |
| 7 | g.44152367C>G | CA454610268 | GCK | c.*265G>C (n.*265G>C) c.267G>C (p.Val89=) n.753G>C c.270G>C (p.Val90=) c.264G>C (p.Val88=) | |
| 7 | g.44152367C>T | CA454610269 | GCK | c.*265G>A (n.*265G>A) c.267G>A (p.Val89=) n.753G>A c.270G>A (p.Val90=) c.264G>A (p.Val88=) | gnomAD v4 |
| 7 | g.44152368A>C | CA367402909 | GCK | c.*264T>G (n.*264T>G) c.266T>G (p.Val89Gly) n.752T>G c.269T>G (p.Val90Gly) c.263T>G (p.Val88Gly) | |
| 7 | g.44152368A>G | CA367402910 | GCK | c.*264T>C (n.*264T>C) c.266T>C (p.Val89Ala) n.752T>C c.269T>C (p.Val90Ala) c.263T>C (p.Val88Ala) | |
| 7 | g.44152368A>T | CA367402914 | GCK | c.*264T>A (n.*264T>A) c.266T>A (p.Val89Glu) n.752T>A c.269T>A (p.Val90Glu) c.263T>A (p.Val88Glu) | |
| 7 | g.44152369C>A | CA367402916 | GCK | c.*263G>T (n.*263G>T) c.265G>T (p.Val89Leu) n.751G>T c.268G>T (p.Val90Leu) c.262G>T (p.Val88Leu) | |
| 7 | g.44152369C>G | CA367402918 | GCK | c.*263G>C (n.*263G>C) c.265G>C (p.Val89Leu) n.751G>C c.268G>C (p.Val90Leu) c.262G>C (p.Val88Leu) | |
| 7 | g.44152369C>T | CA367402921 | GCK | c.*263G>A (n.*263G>A) c.265G>A (p.Val89Met) n.751G>A c.268G>A (p.Val90Met) c.262G>A (p.Val88Met) | |
| 7 | g.44152370C>A | CA454610270 | GCK | c.*262G>T (n.*262G>T) c.264G>T (p.Leu88=) n.750G>T c.267G>T (p.Leu89=) c.261G>T (p.Leu87=) | gnomAD v4 |
| 7 | g.44152370C= | CA1703637067 | GCK | c.*262G= (n.*262G=) c.264G= (p.Leu88=) n.750G= c.267G= (p.Leu89=) c.261G= (p.Leu87=) | |
| 7 | g.44152370C>G | CA454610271 | GCK | c.*262G>C (n.*262G>C) c.264G>C (p.Leu88=) n.750G>C c.267G>C (p.Leu89=) c.261G>C (p.Leu87=) | |
| 7 | g.44152370C>T | CA4239684 | GCK | c.*262G>A (n.*262G>A) c.264G>A (p.Leu88=) n.750G>A c.267G>A (p.Leu89=) c.261G>A (p.Leu87=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44152370_44152371insCATGCACAGATGTAACTGGCAGGCCACTTTGCT | CA2682576254 | GCK | c.*261_*262insAGCAAAGTGGCCTGCCAGTTACATCTGTGCATG (n.*261_*262insAGCAAAGTGGCCTGCCAGTTACATCTGTGCATG) c.263_264insAGCAAAGTGGCCTGCCAGTTACATCTGTGCATG (p.Leu88_Val89insAlaLysTrpProAlaSerTyrIleCysAlaTrp) n.749_750insAGCAAAGTGGCCTGCCAGTTACATCTGTGCATG c.266_267insAGCAAAGTGGCCTGCCAGTTACATCTGTGCATG (p.Leu89_Val90insAlaLysTrpProAlaSerTyrIleCysAlaTrp) c.260_261insAGCAAAGTGGCCTGCCAGTTACATCTGTGCATG (p.Leu87_Val88insAlaLysTrpProAlaSerTyrIleCysAlaTrp) | gnomAD v4 |
| 7 | g.44152371A>C | CA367402924 | GCK | c.*261T>G (n.*261T>G) c.263T>G (p.Leu88Arg) n.749T>G c.266T>G (p.Leu89Arg) c.260T>G (p.Leu87Arg) | |
| 7 | g.44152371A>G | CA367402925 | GCK | c.*261T>C (n.*261T>C) c.263T>C (p.Leu88Pro) n.749T>C c.266T>C (p.Leu89Pro) c.260T>C (p.Leu87Pro) | |
| 7 | g.44152371A>T | CA367402927 | GCK | c.*261T>A (n.*261T>A) c.263T>A (p.Leu88Gln) n.749T>A c.266T>A (p.Leu89Gln) c.260T>A (p.Leu87Gln) | |
| 7 | g.44152372G>A | CA454610273 | GCK | c.*260C>T (n.*260C>T) c.262C>T (p.Leu88=) n.748C>T c.265C>T (p.Leu89=) c.259C>T (p.Leu87=) | gnomAD v4 |
| 7 | g.44152372G>C | CA367402931 | GCK | c.*260C>G (n.*260C>G) c.262C>G (p.Leu88Val) n.748C>G c.265C>G (p.Leu89Val) c.259C>G (p.Leu87Val) | |
| 7 | g.44152372G>T | CA367402929 | GCK | c.*260C>A (n.*260C>A) c.262C>A (p.Leu88Met) n.748C>A c.265C>A (p.Leu89Met) c.259C>A (p.Leu87Met) | |
| 7 | g.44152373C>A | CA367402934 | GCK | c.*259G>T (n.*259G>T) c.261G>T (p.Met87Ile) n.747G>T c.264G>T (p.Met88Ile) c.258G>T (p.Met86Ile) | |
| 7 | g.44152373C>G | CA367402936 | GCK | c.*259G>C (n.*259G>C) c.261G>C (p.Met87Ile) n.747G>C c.264G>C (p.Met88Ile) c.258G>C (p.Met86Ile) | |
| 7 | g.44152373C>T | CA367402937 | GCK | c.*259G>A (n.*259G>A) c.261G>A (p.Met87Ile) n.747G>A c.264G>A (p.Met88Ile) c.258G>A (p.Met86Ile) | |
| 7 | g.44152374A>C | CA367402939 | GCK | c.*258T>G (n.*258T>G) c.260T>G (p.Met87Arg) n.746T>G c.263T>G (p.Met88Arg) c.257T>G (p.Met86Arg) | |
| 7 | g.44152374A>G | CA367402942 | GCK | c.*258T>C (n.*258T>C) c.260T>C (p.Met87Thr) n.746T>C c.263T>C (p.Met88Thr) c.257T>C (p.Met86Thr) | |
| 7 | g.44152374A>T | CA367402944 | GCK | c.*258T>A (n.*258T>A) c.260T>A (p.Met87Lys) n.746T>A c.263T>A (p.Met88Lys) c.257T>A (p.Met86Lys) | |
| 7 | g.44152375T>A | CA367402945 | GCK | c.*257A>T (n.*257A>T) c.259A>T (p.Met87Leu) n.745A>T c.262A>T (p.Met88Leu) c.256A>T (p.Met86Leu) | |
| 7 | g.44152375T>C | CA367402947 | GCK | c.*257A>G (n.*257A>G) c.259A>G (p.Met87Val) n.745A>G c.262A>G (p.Met88Val) c.256A>G (p.Met86Val) | |
| 7 | g.44152375T>G | CA367402949 | GCK | c.*257A>C (n.*257A>C) c.259A>C (p.Met87Leu) n.745A>C c.262A>C (p.Met88Leu) c.256A>C (p.Met86Leu) | |
| 7 | g.44152376C>A | CA454610278 | GCK | c.*256G>T (n.*256G>T) c.258G>T (p.Val86=) n.744G>T c.261G>T (p.Val87=) c.255G>T (p.Val85=) | |
| 7 | g.44152376C= | CA1703637068 | GCK | c.*256G= (n.*256G=) c.258G= (p.Val86=) n.744G= c.261G= (p.Val87=) c.255G= (p.Val85=) | |
| 7 | g.44152376C>G | CA454610280 | GCK | c.*256G>C (n.*256G>C) c.258G>C (p.Val86=) n.744G>C c.261G>C (p.Val87=) c.255G>C (p.Val85=) | |
| 7 | g.44152376C>T | CA454610283 | GCK | c.*256G>A (n.*256G>A) c.258G>A (p.Val86=) n.744G>A c.261G>A (p.Val87=) c.255G>A (p.Val85=) | dbSNP |
| 7 | g.44152377A>C | CA367402951 | GCK | c.*255T>G (n.*255T>G) c.257T>G (p.Val86Gly) n.743T>G c.260T>G (p.Val87Gly) c.254T>G (p.Val85Gly) | |
| 7 | g.44152377A>G | CA367402952 | GCK | c.*255T>C (n.*255T>C) c.257T>C (p.Val86Ala) n.743T>C c.260T>C (p.Val87Ala) c.254T>C (p.Val85Ala) | |
| 7 | g.44152377A>T | CA367402953 | GCK | c.*255T>A (n.*255T>A) c.257T>A (p.Val86Glu) n.743T>A c.260T>A (p.Val87Glu) c.254T>A (p.Val85Glu) | |
| 7 | g.44152378C>A | CA367402955 | GCK | c.*254G>T (n.*254G>T) c.256G>T (p.Val86Leu) n.742G>T c.259G>T (p.Val87Leu) c.253G>T (p.Val85Leu) | gnomAD v4 |
| 7 | g.44152378C>G | CA367402957 | GCK | c.*254G>C (n.*254G>C) c.256G>C (p.Val86Leu) n.742G>C c.259G>C (p.Val87Leu) c.253G>C (p.Val85Leu) | |
| 7 | g.44152378C>T | CA367402954 | GCK | c.*254G>A (n.*254G>A) c.256G>A (p.Val86Met) n.742G>A c.259G>A (p.Val87Met) c.253G>A (p.Val85Met) | |
| 7 | g.44152379_44152380del | CA2580077163 | GCK | c.*253_*254del (n.*253_*254del) c.255_256del (p.Arg85SerfsTer10) n.741_742del c.258_259del (p.Arg86SerfsTer10) c.252_253del (p.Arg84SerfsTer10) | ClinVar |
| 7 | g.44152379C>A | CA367402958 | GCK | c.*253G>T (n.*253G>T) c.255G>T (p.Arg85Ser) n.741G>T c.258G>T (p.Arg86Ser) c.252G>T (p.Arg84Ser) | ClinVar dbSNP |
| 7 | g.44152379C= | CA1703637069 | GCK | c.*253G= (n.*253G=) c.255G= (p.Arg85=) n.741G= c.258G= (p.Arg86=) c.252G= (p.Arg84=) | |
| 7 | g.44152379C>G | CA367402959 | GCK | c.*253G>C (n.*253G>C) c.255G>C (p.Arg85Ser) n.741G>C c.258G>C (p.Arg86Ser) c.252G>C (p.Arg84Ser) | |
| 7 | g.44152379C>T | CA454610288 | GCK | c.*253G>A (n.*253G>A) c.255G>A (p.Arg85=) n.741G>A c.258G>A (p.Arg86=) c.252G>A (p.Arg84=) | |
| 7 | g.44152380C>A | CA367402962 | GCK | c.*252G>T (n.*252G>T) c.254G>T (p.Arg85Met) n.740G>T c.257G>T (p.Arg86Met) c.251G>T (p.Arg84Met) | |
| 7 | g.44152380C>G | CA367402964 | GCK | c.*252G>C (n.*252G>C) c.254G>C (p.Arg85Thr) n.740G>C c.257G>C (p.Arg86Thr) c.251G>C (p.Arg84Thr) | |
| 7 | g.44152380C>T | CA367402965 | GCK | c.*252G>A (n.*252G>A) c.254G>A (p.Arg85Lys) n.740G>A c.257G>A (p.Arg86Lys) c.251G>A (p.Arg84Lys) | |
| 7 | g.44152381T>A | CA213773 | GCK | c.*251A>T (n.*251A>T) c.253A>T (p.Arg85Trp) n.739A>T c.256A>T (p.Arg86Trp) c.250A>T (p.Arg84Trp) | ClinVar dbSNP |
| 7 | g.44152381T>C | CA367402966 | GCK | c.*251A>G (n.*251A>G) c.253A>G (p.Arg85Gly) n.739A>G c.256A>G (p.Arg86Gly) c.250A>G (p.Arg84Gly) | |
| 7 | g.44152381T>G | CA454610293 | GCK | c.*251A>C (n.*251A>C) c.253A>C (p.Arg85=) n.739A>C c.256A>C (p.Arg86=) c.250A>C (p.Arg84=) | |
| 7 | g.44152381T= | CA1703637070 | GCK | c.*251A= (n.*251A=) c.253A= (p.Arg85=) n.739A= c.256A= (p.Arg86=) c.250A= (p.Arg84=) | |
| 7 | g.44152382G>A | CA454610296 | GCK | c.*250C>T (n.*250C>T) c.252C>T (p.Phe84=) n.738C>T c.255C>T (p.Phe85=) c.249C>T (p.Phe83=) | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44152382G>C | CA367402968 | GCK | c.*250C>G (n.*250C>G) c.252C>G (p.Phe84Leu) n.738C>G c.255C>G (p.Phe85Leu) c.249C>G (p.Phe83Leu) | |
| 7 | g.44152382G= | CA1703637071 | GCK | c.*250C= (n.*250C=) c.252C= (p.Phe84=) n.738C= c.255C= (p.Phe85=) c.249C= (p.Phe83=) | |
| 7 | g.44152382G>T | CA367402970 | GCK | c.*250C>A (n.*250C>A) c.252C>A (p.Phe84Leu) n.738C>A c.255C>A (p.Phe85Leu) c.249C>A (p.Phe83Leu) | |
| 7 | g.44152383A>C | CA367402971 | GCK | c.*249T>G (n.*249T>G) c.251T>G (p.Phe84Cys) n.737T>G c.254T>G (p.Phe85Cys) c.248T>G (p.Phe83Cys) | |
| 7 | g.44152383A>G | CA367402973 | GCK | c.*249T>C (n.*249T>C) c.251T>C (p.Phe84Ser) n.737T>C c.254T>C (p.Phe85Ser) c.248T>C (p.Phe83Ser) | ClinVar dbSNP |
| 7 | g.44152383A>T | CA367402975 | GCK | c.*249T>A (n.*249T>A) c.251T>A (p.Phe84Tyr) n.737T>A c.254T>A (p.Phe85Tyr) c.248T>A (p.Phe83Tyr) | |
| 7 | g.44152384A>C | CA367402978 | GCK | c.*248T>G (n.*248T>G) c.250T>G (p.Phe84Val) n.736T>G c.253T>G (p.Phe85Val) c.247T>G (p.Phe83Val) | COSMIC COSMIC COSMIC |
| 7 | g.44152384A>G | CA367402981 | GCK | c.*248T>C (n.*248T>C) c.250T>C (p.Phe84Leu) n.736T>C c.253T>C (p.Phe85Leu) c.247T>C (p.Phe83Leu) | gnomAD v4 |
| 7 | g.44152384A>T | CA367402977 | GCK | c.*248T>A (n.*248T>A) c.250T>A (p.Phe84Ile) n.736T>A c.253T>A (p.Phe85Ile) c.247T>A (p.Phe83Ile) | |
| 7 | g.44152385G>A | CA454610298 | GCK | c.*247C>T (n.*247C>T) c.249C>T (p.Asn83=) n.735C>T c.252C>T (p.Asn84=) c.246C>T (p.Asn82=) | gnomAD v4 |
| 7 | g.44152385G>C | CA367402982 | GCK | c.*247C>G (n.*247C>G) c.249C>G (p.Asn83Lys) n.735C>G c.252C>G (p.Asn84Lys) c.246C>G (p.Asn82Lys) | |
| 7 | g.44152385G>T | CA367402983 | GCK | c.*247C>A (n.*247C>A) c.249C>A (p.Asn83Lys) n.735C>A c.252C>A (p.Asn84Lys) c.246C>A (p.Asn82Lys) | |
| 7 | g.44152386T>A | CA367402985 | GCK | c.*246A>T (n.*246A>T) c.248A>T (p.Asn83Ile) n.734A>T c.251A>T (p.Asn84Ile) c.245A>T (p.Asn82Ile) | |
| 7 | g.44152386T>C | CA367402987 | GCK | c.*246A>G (n.*246A>G) c.248A>G (p.Asn83Ser) n.734A>G c.251A>G (p.Asn84Ser) c.245A>G (p.Asn82Ser) | |
| 7 | g.44152386T>G | CA367402988 | GCK | c.*246A>C (n.*246A>C) c.248A>C (p.Asn83Thr) n.734A>C c.251A>C (p.Asn84Thr) c.245A>C (p.Asn82Thr) | |
| 7 | g.44152387T>A | CA367402993 | GCK | c.*245A>T (n.*245A>T) c.247A>T (p.Asn83Tyr) n.733A>T c.250A>T (p.Asn84Tyr) c.244A>T (p.Asn82Tyr) | |
| 7 | g.44152387T>C | CA367402992 | GCK | c.*245A>G (n.*245A>G) c.247A>G (p.Asn83Asp) n.733A>G c.250A>G (p.Asn84Asp) c.244A>G (p.Asn82Asp) | |
| 7 | g.44152387T>G | CA367402990 | GCK | c.*245A>C (n.*245A>C) c.247A>C (p.Asn83His) n.733A>C c.250A>C (p.Asn84His) c.244A>C (p.Asn82His) | |
| 7 | g.44152388A>C | CA454610305 | GCK | c.*244T>G (n.*244T>G) c.246T>G (p.Thr82=) n.732T>G c.249T>G (p.Thr83=) c.243T>G (p.Thr81=) | gnomAD v4 |
| 7 | g.44152388A>G | CA454610307 | GCK | c.*244T>C (n.*244T>C) c.246T>C (p.Thr82=) n.732T>C c.249T>C (p.Thr83=) c.243T>C (p.Thr81=) | |
| 7 | g.44152388A>T | CA454610306 | GCK | c.*244T>A (n.*244T>A) c.246T>A (p.Thr82=) n.732T>A c.249T>A (p.Thr83=) c.243T>A (p.Thr81=) | |
| 7 | g.44152389G>A | CA367402995 | GCK | c.*243C>T (n.*243C>T) c.245C>T (p.Thr82Ile) n.731C>T c.248C>T (p.Thr83Ile) c.242C>T (p.Thr81Ile) | ClinVar |
| 7 | g.44152389G>C | CA367402997 | GCK | c.*243C>G (n.*243C>G) c.245C>G (p.Thr82Ser) n.731C>G c.248C>G (p.Thr83Ser) c.242C>G (p.Thr81Ser) | |
| 7 | g.44152389G>T | CA367402998 | GCK | c.*243C>A (n.*243C>A) c.245C>A (p.Thr82Asn) n.731C>A c.248C>A (p.Thr83Asn) c.242C>A (p.Thr81Asn) | |
| 7 | g.44152390T>A | CA367403000 | GCK | c.*242A>T (n.*242A>T) c.244A>T (p.Thr82Ser) n.730A>T c.247A>T (p.Thr83Ser) c.241A>T (p.Thr81Ser) | |
| 7 | g.44152390T>C | CA367403002 | GCK | c.*242A>G (n.*242A>G) c.244A>G (p.Thr82Ala) n.730A>G c.247A>G (p.Thr83Ala) c.241A>G (p.Thr81Ala) | |
| 7 | g.44152390T>G | CA367403003 | GCK | c.*242A>C (n.*242A>C) c.244A>C (p.Thr82Pro) n.730A>C c.247A>C (p.Thr83Pro) c.241A>C (p.Thr81Pro) | |
| 7 | g.44152391G>A | CA454610309 | GCK | c.*241C>T (n.*241C>T) c.243C>T (p.Gly81=) n.729C>T c.246C>T (p.Gly82=) c.240C>T (p.Gly80=) | |
| 7 | g.44152391G>C | CA454610310 | GCK | c.*241C>G (n.*241C>G) c.243C>G (p.Gly81=) n.729C>G c.246C>G (p.Gly82=) c.240C>G (p.Gly80=) | |
| 7 | g.44152391G>T | CA454610312 | GCK | c.*241C>A (n.*241C>A) c.243C>A (p.Gly81=) n.729C>A c.246C>A (p.Gly82=) c.240C>A (p.Gly80=) |