| 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.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=) | |
| 7 | g.44152392C>A | CA367403008 | GCK | c.*240G>T (n.*240G>T) c.242G>T (p.Gly81Val) n.728G>T c.245G>T (p.Gly82Val) c.239G>T (p.Gly80Val) | |
| 7 | g.44152392C= | CA1703637072 | GCK | c.*240G= (n.*240G=) c.242G= (p.Gly81=) n.728G= c.245G= (p.Gly82=) c.239G= (p.Gly80=) | |
| 7 | g.44152392C>G | CA367403006 | GCK | c.*240G>C (n.*240G>C) c.242G>C (p.Gly81Ala) n.728G>C c.245G>C (p.Gly82Ala) c.239G>C (p.Gly80Ala) | |
| 7 | g.44152392C>T | CA157919284 | GCK | c.*240G>A (n.*240G>A) c.242G>A (p.Gly81Asp) n.728G>A c.245G>A (p.Gly82Asp) c.239G>A (p.Gly80Asp) | ClinVar dbSNP |
| 7 | g.44152393C>A | CA367403010 | GCK | c.*239G>T (n.*239G>T) c.241G>T (p.Gly81Cys) n.727G>T c.244G>T (p.Gly82Cys) c.238G>T (p.Gly80Cys) | |
| 7 | g.44152393C>G | CA367403013 | GCK | c.*239G>C (n.*239G>C) c.241G>C (p.Gly81Arg) n.727G>C c.244G>C (p.Gly82Arg) c.238G>C (p.Gly80Arg) | |
| 7 | g.44152393C>T | CA367403011 | GCK | c.*239G>A (n.*239G>A) c.241G>A (p.Gly81Ser) n.727G>A c.244G>A (p.Gly82Ser) c.238G>A (p.Gly80Ser) | |
| 7 | g.44152394A>C | CA454610315 | GCK | c.*238T>G (n.*238T>G) c.240T>G (p.Gly80=) n.726T>G c.243T>G (p.Gly81=) c.237T>G (p.Gly79=) | |
| 7 | g.44152394A>G | CA454610316 | GCK | c.*238T>C (n.*238T>C) c.240T>C (p.Gly80=) n.726T>C c.243T>C (p.Gly81=) c.237T>C (p.Gly79=) | |
| 7 | g.44152394A>T | CA454610317 | GCK | c.*238T>A (n.*238T>A) c.240T>A (p.Gly80=) n.726T>A c.243T>A (p.Gly81=) c.237T>A (p.Gly79=) | |
| 7 | g.44152395C>A | CA367403015 | GCK | c.*237G>T (n.*237G>T) c.239G>T (p.Gly80Val) n.725G>T c.242G>T (p.Gly81Val) c.236G>T (p.Gly79Val) | COSMIC COSMIC |
| 7 | g.44152395C>G | CA367403019 | GCK | c.*237G>C (n.*237G>C) c.239G>C (p.Gly80Ala) n.725G>C c.242G>C (p.Gly81Ala) c.236G>C (p.Gly79Ala) | |
| 7 | g.44152395C>T | CA367403017 | GCK | c.*237G>A (n.*237G>A) c.239G>A (p.Gly80Asp) n.725G>A c.242G>A (p.Gly81Asp) c.236G>A (p.Gly79Asp) | |
| 7 | g.44152396C>A | CA367403020 | GCK | c.*236G>T (n.*236G>T) c.238G>T (p.Gly80Cys) n.724G>T c.241G>T (p.Gly81Cys) c.235G>T (p.Gly79Cys) | |
| 7 | g.44152396C= | CA1703637073 | GCK | c.*236G= (n.*236G=) c.238G= (p.Gly80=) n.724G= c.241G= (p.Gly81=) c.235G= (p.Gly79=) | |
| 7 | g.44152396C>G | CA367403022 | GCK | c.*236G>C (n.*236G>C) c.238G>C (p.Gly80Arg) n.724G>C c.241G>C (p.Gly81Arg) c.235G>C (p.Gly79Arg) | |
| 7 | g.44152396C>T | CA367403023 | GCK | c.*236G>A (n.*236G>A) c.238G>A (p.Gly80Ser) n.724G>A c.241G>A (p.Gly81Ser) c.235G>A (p.Gly79Ser) | ClinVar dbSNP |
| 7 | g.44152397C>A | CA454610325 | GCK | c.*235G>T (n.*235G>T) c.237G>T (p.Leu79=) n.723G>T c.240G>T (p.Leu80=) c.234G>T (p.Leu78=) | |
| 7 | g.44152397C= | CA1703637074 | GCK | c.*235G= (n.*235G=) c.237G= (p.Leu79=) n.723G= c.240G= (p.Leu80=) c.234G= (p.Leu78=) | |
| 7 | g.44152397C>G | CA4239685 | GCK | c.*235G>C (n.*235G>C) c.237G>C (p.Leu79=) n.723G>C c.240G>C (p.Leu80=) c.234G>C (p.Leu78=) | dbSNP ExAC gnomAD v2 COSMIC COSMIC |
| 7 | g.44152397C>T | CA4239686 | GCK | c.*235G>A (n.*235G>A) c.237G>A (p.Leu79=) n.723G>A c.240G>A (p.Leu80=) c.234G>A (p.Leu78=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44152398A>C | CA367403026 | GCK | c.*234T>G (n.*234T>G) c.236T>G (p.Leu79Arg) n.722T>G c.239T>G (p.Leu80Arg) c.233T>G (p.Leu78Arg) | |
| 7 | g.44152398A>G | CA367403028 | GCK | c.*234T>C (n.*234T>C) c.236T>C (p.Leu79Pro) n.722T>C c.239T>C (p.Leu80Pro) c.233T>C (p.Leu78Pro) | |
| 7 | g.44152398A>T | CA367403030 | GCK | c.*234T>A (n.*234T>A) c.236T>A (p.Leu79Gln) n.722T>A c.239T>A (p.Leu80Gln) c.233T>A (p.Leu78Gln) | |
| 7 | g.44152399G>A | CA454610327 | GCK | c.*233C>T (n.*233C>T) c.235C>T (p.Leu79=) n.721C>T c.238C>T (p.Leu80=) c.232C>T (p.Leu78=) | |
| 7 | g.44152399G>C | CA367403031 | GCK | c.*233C>G (n.*233C>G) c.235C>G (p.Leu79Val) n.721C>G c.238C>G (p.Leu80Val) c.232C>G (p.Leu78Val) | |
| 7 | g.44152399G>T | CA367403033 | GCK | c.*233C>A (n.*233C>A) c.235C>A (p.Leu79Met) n.721C>A c.238C>A (p.Leu80Met) c.232C>A (p.Leu78Met) | |
| 7 | g.44152400G>A | CA454610329 | GCK | c.*232C>T (n.*232C>T) c.234C>T (p.Asp78=) n.720C>T c.237C>T (p.Asp79=) c.231C>T (p.Asp77=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44152400G>C | CA367403035 | GCK | c.*232C>G (n.*232C>G) c.234C>G (p.Asp78Glu) n.720C>G c.237C>G (p.Asp79Glu) c.231C>G (p.Asp77Glu) | |
| 7 | g.44152400G= | CA1703637075 | GCK | c.*232C= (n.*232C=) c.234C= (p.Asp78=) n.720C= c.237C= (p.Asp79=) c.231C= (p.Asp77=) | |
| 7 | g.44152400G>T | CA367403036 | GCK | c.*232C>A (n.*232C>A) c.234C>A (p.Asp78Glu) n.720C>A c.237C>A (p.Asp79Glu) c.231C>A (p.Asp77Glu) | ClinVar |
| 7 | g.44152401T>A | CA367403039 | GCK | c.*231A>T (n.*231A>T) c.233A>T (p.Asp78Val) n.719A>T c.236A>T (p.Asp79Val) c.230A>T (p.Asp77Val) | |
| 7 | g.44152401T>C | CA367403041 | GCK | c.*231A>G (n.*231A>G) c.233A>G (p.Asp78Gly) n.719A>G c.236A>G (p.Asp79Gly) c.230A>G (p.Asp77Gly) | |
| 7 | g.44152401T>G | CA367403040 | GCK | c.*231A>C (n.*231A>C) c.233A>C (p.Asp78Ala) n.719A>C c.236A>C (p.Asp79Ala) c.230A>C (p.Asp77Ala) | |
| 7 | g.44152402C>A | CA367403044 | GCK | c.*230G>T (n.*230G>T) c.232G>T (p.Asp78Tyr) n.718G>T c.235G>T (p.Asp79Tyr) c.229G>T (p.Asp77Tyr) | ClinVar |
| 7 | g.44152402C>G | CA367403045 | GCK | c.*230G>C (n.*230G>C) c.232G>C (p.Asp78His) n.718G>C c.235G>C (p.Asp79His) c.229G>C (p.Asp77His) | |
| 7 | g.44152402C>T | CA367403047 | GCK | c.*230G>A (n.*230G>A) c.232G>A (p.Asp78Asn) n.718G>A c.235G>A (p.Asp79Asn) c.229G>A (p.Asp77Asn) | |
| 7 | g.44152403C>A | CA454610333 | GCK | c.*229G>T (n.*229G>T) c.231G>T (p.Leu77=) n.717G>T c.234G>T (p.Leu78=) c.228G>T (p.Leu76=) | |
| 7 | g.44152403C= | CA1703637076 | GCK | c.*229G= (n.*229G=) c.231G= (p.Leu77=) n.717G= c.234G= (p.Leu78=) c.228G= (p.Leu76=) | |
| 7 | g.44152403C>G | CA454610334 | GCK | c.*229G>C (n.*229G>C) c.231G>C (p.Leu77=) n.717G>C c.234G>C (p.Leu78=) c.228G>C (p.Leu76=) | |
| 7 | g.44152403C>T | CA157919305 | GCK | c.*229G>A (n.*229G>A) c.231G>A (p.Leu77=) n.717G>A c.234G>A (p.Leu78=) c.228G>A (p.Leu76=) | dbSNP gnomAD v4 |
| 7 | g.44152404A= | CA1703637077 | GCK | c.*228T= (n.*228T=) c.230T= (p.Leu77=) n.716T= c.233T= (p.Leu78=) c.227T= (p.Leu76=) | |
| 7 | g.44152404A>C | CA367403050 | GCK | c.*228T>G (n.*228T>G) c.230T>G (p.Leu77Arg) n.716T>G c.233T>G (p.Leu78Arg) c.227T>G (p.Leu76Arg) | |
| 7 | g.44152404A>G | CA367403052 | GCK | c.*228T>C (n.*228T>C) c.230T>C (p.Leu77Pro) n.716T>C c.233T>C (p.Leu78Pro) c.227T>C (p.Leu76Pro) | ClinVar dbSNP |
| 7 | g.44152404A>T | CA367403054 | GCK | c.*228T>A (n.*228T>A) c.230T>A (p.Leu77Gln) n.716T>A c.233T>A (p.Leu78Gln) c.227T>A (p.Leu76Gln) | |
| 7 | g.44152405G>A | CA454610335 | GCK | c.*227C>T (n.*227C>T) c.229C>T (p.Leu77=) n.715C>T c.232C>T (p.Leu78=) c.226C>T (p.Leu76=) | |
| 7 | g.44152405G>C | CA367403056 | GCK | c.*227C>G (n.*227C>G) c.229C>G (p.Leu77Val) n.715C>G c.232C>G (p.Leu78Val) c.226C>G (p.Leu76Val) | |
| 7 | g.44152405G>T | CA367403058 | GCK | c.*227C>A (n.*227C>A) c.229C>A (p.Leu77Met) n.715C>A c.232C>A (p.Leu78Met) c.226C>A (p.Leu76Met) | |
| 7 | g.44152407del | CA2682576281 | GCK | c.*227del (n.*227del) c.229del (p.Leu77TrpfsTer10) n.715del c.232del (p.Leu78TrpfsTer10) c.226del (p.Leu76TrpfsTer10) | gnomAD v4 |
| 7 | g.44152406G>A | CA454610336 | GCK | c.*226C>T (n.*226C>T) c.228C>T (p.Ser76=) n.714C>T c.231C>T (p.Ser77=) c.225C>T (p.Ser75=) | COSMIC COSMIC COSMIC |
| 7 | g.44152406G>C | CA454610337 | GCK | c.*226C>G (n.*226C>G) c.228C>G (p.Ser76=) n.714C>G c.231C>G (p.Ser77=) c.225C>G (p.Ser75=) | |
| 7 | g.44152406G>T | CA454610338 | GCK | c.*226C>A (n.*226C>A) c.228C>A (p.Ser76=) n.714C>A c.231C>A (p.Ser77=) c.225C>A (p.Ser75=) | |
| 7 | g.44152407G>A | CA367403062 | GCK | c.*225C>T (n.*225C>T) c.227C>T (p.Ser76Phe) n.713C>T c.230C>T (p.Ser77Phe) c.224C>T (p.Ser75Phe) | |
| 7 | g.44152407G>C | CA367403064 | GCK | c.*225C>G (n.*225C>G) c.227C>G (p.Ser76Cys) n.713C>G c.230C>G (p.Ser77Cys) c.224C>G (p.Ser75Cys) | |
| 7 | g.44152407G>T | CA367403060 | GCK | c.*225C>A (n.*225C>A) c.227C>A (p.Ser76Tyr) n.713C>A c.230C>A (p.Ser77Tyr) c.224C>A (p.Ser75Tyr) | ClinVar |
| 7 | g.44152408A>C | CA367403065 | GCK | c.*224T>G (n.*224T>G) c.226T>G (p.Ser76Ala) n.712T>G c.229T>G (p.Ser77Ala) c.223T>G (p.Ser75Ala) | |
| 7 | g.44152408A>G | CA367403067 | GCK | c.*224T>C (n.*224T>C) c.226T>C (p.Ser76Pro) n.712T>C c.229T>C (p.Ser77Pro) c.223T>C (p.Ser75Pro) | |
| 7 | g.44152408A>T | CA367403069 | GCK | c.*224T>A (n.*224T>A) c.226T>A (p.Ser76Thr) n.712T>A c.229T>A (p.Ser77Thr) c.223T>A (p.Ser75Thr) | |
| 7 | g.44152409G>A | CA454610339 | GCK | c.*223C>T (n.*223C>T) c.225C>T (p.Leu75=) n.711C>T c.228C>T (p.Leu76=) c.222C>T (p.Leu74=) | dbSNP |
| 7 | g.44152409G>C | CA454610340 | GCK | c.*223C>G (n.*223C>G) c.225C>G (p.Leu75=) n.711C>G c.228C>G (p.Leu76=) c.222C>G (p.Leu74=) | |
| 7 | g.44152409G>T | CA454610341 | GCK | c.*223C>A (n.*223C>A) c.225C>A (p.Leu75=) n.711C>A c.228C>A (p.Leu76=) c.222C>A (p.Leu74=) | |
| 7 | g.44152411_44152413del | CA2695203010 | GCK | c.*221_*223del (n.*221_*223del) c.223_225del (p.Leu75del) n.709_711del c.226_228del (p.Leu76del) c.220_222del (p.Leu74del) | |
| 7 | g.44152410A>C | CA367403070 | GCK | c.*222T>G (n.*222T>G) c.224T>G (p.Leu75Arg) n.710T>G c.227T>G (p.Leu76Arg) c.221T>G (p.Leu74Arg) | |
| 7 | g.44152410A>G | CA367403072 | GCK | c.*222T>C (n.*222T>C) c.224T>C (p.Leu75Pro) n.710T>C c.227T>C (p.Leu76Pro) c.221T>C (p.Leu74Pro) | |
| 7 | g.44152410A>T | CA367403074 | GCK | c.*222T>A (n.*222T>A) c.224T>A (p.Leu75His) n.710T>A c.227T>A (p.Leu76His) c.221T>A (p.Leu74His) | |
| 7 | g.44152411G>A | CA367403080 | GCK | c.*221C>T (n.*221C>T) c.223C>T (p.Leu75Phe) n.709C>T c.226C>T (p.Leu76Phe) c.220C>T (p.Leu74Phe) | |
| 7 | g.44152411G>C | CA367403076 | GCK | c.*221C>G (n.*221C>G) c.223C>G (p.Leu75Val) n.709C>G c.226C>G (p.Leu76Val) c.220C>G (p.Leu74Val) | |
| 7 | g.44152411G>T | CA367403078 | GCK | c.*221C>A (n.*221C>A) c.223C>A (p.Leu75Ile) n.709C>A c.226C>A (p.Leu76Ile) c.220C>A (p.Leu74Ile) | |
| 7 | g.44152412G>A | CA454610343 | GCK | c.*220C>T (n.*220C>T) c.222C>T (p.Phe74=) n.708C>T c.225C>T (p.Phe75=) c.219C>T (p.Phe73=) | dbSNP |
| 7 | g.44152412G>C | CA367403082 | GCK | c.*220C>G (n.*220C>G) c.222C>G (p.Phe74Leu) n.708C>G c.225C>G (p.Phe75Leu) c.219C>G (p.Phe73Leu) | |
| 7 | g.44152412G= | CA1703637078 | GCK | c.*220C= (n.*220C=) c.222C= (p.Phe74=) n.708C= c.225C= (p.Phe75=) c.219C= (p.Phe73=) | |
| 7 | g.44152412G>T | CA367403084 | GCK | c.*220C>A (n.*220C>A) c.222C>A (p.Phe74Leu) n.708C>A c.225C>A (p.Phe75Leu) c.219C>A (p.Phe73Leu) | |
| 7 | g.44152413A>C | CA367403086 | GCK | c.*219T>G (n.*219T>G) c.221T>G (p.Phe74Cys) n.707T>G c.224T>G (p.Phe75Cys) c.218T>G (p.Phe73Cys) | |
| 7 | g.44152413A>G | CA367403088 | GCK | c.*219T>C (n.*219T>C) c.221T>C (p.Phe74Ser) n.707T>C c.224T>C (p.Phe75Ser) c.218T>C (p.Phe73Ser) | |
| 7 | g.44152413A>T | CA367403089 | GCK | c.*219T>A (n.*219T>A) c.221T>A (p.Phe74Tyr) n.707T>A c.224T>A (p.Phe75Tyr) c.218T>A (p.Phe73Tyr) | |
| 7 | g.44152414A>C | CA367403091 | GCK | c.*218T>G (n.*218T>G) c.220T>G (p.Phe74Val) n.706T>G c.223T>G (p.Phe75Val) c.217T>G (p.Phe73Val) | |
| 7 | g.44152414A>G | CA367403095 | GCK | c.*218T>C (n.*218T>C) c.220T>C (p.Phe74Leu) n.706T>C c.223T>C (p.Phe75Leu) c.217T>C (p.Phe73Leu) | |
| 7 | g.44152414A>T | CA367403093 | GCK | c.*218T>A (n.*218T>A) c.220T>A (p.Phe74Ile) n.706T>A c.223T>A (p.Phe75Ile) c.217T>A (p.Phe73Ile) | COSMIC COSMIC COSMIC |
| 7 | g.44152415G>A | CA454610344 | GCK | c.*217C>T (n.*217C>T) c.219C>T (p.Asp73=) n.705C>T c.222C>T (p.Asp74=) c.216C>T (p.Asp72=) | dbSNP |
| 7 | g.44152415G>C | CA367403096 | GCK | c.*217C>G (n.*217C>G) c.219C>G (p.Asp73Glu) n.705C>G c.222C>G (p.Asp74Glu) c.216C>G (p.Asp72Glu) | ClinVar |
| 7 | g.44152415G= | CA1703637079 | GCK | c.*217C= (n.*217C=) c.219C= (p.Asp73=) n.705C= c.222C= (p.Asp74=) c.216C= (p.Asp72=) | |
| 7 | g.44152415G>T | CA367403097 | GCK | c.*217C>A (n.*217C>A) c.219C>A (p.Asp73Glu) n.705C>A c.222C>A (p.Asp74Glu) c.216C>A (p.Asp72Glu) | |
| 7 | g.44152416T>A | CA367403098 | GCK | c.*216A>T (n.*216A>T) c.218A>T (p.Asp73Val) n.704A>T c.221A>T (p.Asp74Val) c.215A>T (p.Asp72Val) | |
| 7 | g.44152416T>C | CA367403099 | GCK | c.*216A>G (n.*216A>G) c.218A>G (p.Asp73Gly) n.704A>G c.221A>G (p.Asp74Gly) c.215A>G (p.Asp72Gly) | |
| 7 | g.44152416T>G | CA367403101 | GCK | c.*216A>C (n.*216A>C) c.218A>C (p.Asp73Ala) n.704A>C c.221A>C (p.Asp74Ala) c.215A>C (p.Asp72Ala) | |
| 7 | g.44152417C>A | CA367403102 | GCK | c.*215G>T (n.*215G>T) c.217G>T (p.Asp73Tyr) n.703G>T c.220G>T (p.Asp74Tyr) c.214G>T (p.Asp72Tyr) | |
| 7 | g.44152417C>G | CA367403104 | GCK | c.*215G>C (n.*215G>C) c.217G>C (p.Asp73His) n.703G>C c.220G>C (p.Asp74His) c.214G>C (p.Asp72His) | |
| 7 | g.44152417C>T | CA367403105 | GCK | c.*215G>A (n.*215G>A) c.217G>A (p.Asp73Asn) n.703G>A c.220G>A (p.Asp74Asn) c.214G>A (p.Asp72Asn) | |
| 7 | g.44152420del | CA2695203011 | GCK | c.*215del (n.*215del) c.217del (p.Asp73ThrfsTer14) n.703del c.220del (p.Asp74ThrfsTer14) c.214del (p.Asp72ThrfsTer14) | |
| 7 | g.44152418C>A | CA454610347 | GCK | c.*214G>T (n.*214G>T) c.216G>T (p.Gly72=) n.702G>T c.219G>T (p.Gly73=) c.213G>T (p.Gly71=) | |
| 7 | g.44152418C>G | CA454610345 | GCK | c.*214G>C (n.*214G>C) c.216G>C (p.Gly72=) n.702G>C c.219G>C (p.Gly73=) c.213G>C (p.Gly71=) | |
| 7 | g.44152418C>T | CA454610346 | GCK | c.*214G>A (n.*214G>A) c.216G>A (p.Gly72=) n.702G>A c.219G>A (p.Gly73=) c.213G>A (p.Gly71=) | |
| 7 | g.44152419C>A | CA367403107 | GCK | c.*213G>T (n.*213G>T) c.215G>T (p.Gly72Val) n.701G>T c.218G>T (p.Gly73Val) c.212G>T (p.Gly71Val) | |
| 7 | g.44152419C>G | CA367403109 | GCK | c.*213G>C (n.*213G>C) c.215G>C (p.Gly72Ala) n.701G>C c.218G>C (p.Gly73Ala) c.212G>C (p.Gly71Ala) | |
| 7 | g.44152419C>T | CA367403110 | GCK | c.*213G>A (n.*213G>A) c.215G>A (p.Gly72Glu) n.701G>A c.218G>A (p.Gly73Glu) c.212G>A (p.Gly71Glu) | ClinVar dbSNP |
| 7 | g.44152420C>A | CA367403114 | GCK | c.*212G>T (n.*212G>T) c.214G>T (p.Gly72Trp) n.700G>T c.217G>T (p.Gly73Trp) c.211G>T (p.Gly71Trp) | |
| 7 | g.44152420C= | CA1703637080 | GCK | c.*212G= (n.*212G=) c.214G= (p.Gly72=) n.700G= c.217G= (p.Gly73=) c.211G= (p.Gly71=) | |
| 7 | g.44152420C>G | CA367403112 | GCK | c.*212G>C (n.*212G>C) c.214G>C (p.Gly72Arg) n.700G>C c.217G>C (p.Gly73Arg) c.211G>C (p.Gly71Arg) | ClinVar dbSNP |
| 7 | g.44152420C>T | CA213771 | GCK | c.*212G>A (n.*212G>A) c.214G>A (p.Gly72Arg) n.700G>A c.217G>A (p.Gly73Arg) c.211G>A (p.Gly71Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44152421G>A | CA4239687 | GCK | c.*211C>T (n.*211C>T) c.213C>T (p.Val71=) n.699C>T c.216C>T (p.Val72=) c.210C>T (p.Val70=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44152421G>C | CA454610348 | GCK | c.*211C>G (n.*211C>G) c.213C>G (p.Val71=) n.699C>G c.216C>G (p.Val72=) c.210C>G (p.Val70=) | |
| 7 | g.44152421G= | CA1703637081 | GCK | c.*211C= (n.*211C=) c.213C= (p.Val71=) n.699C= c.216C= (p.Val72=) c.210C= (p.Val70=) | |
| 7 | g.44152421G>T | CA454610349 | GCK | c.*211C>A (n.*211C>A) c.213C>A (p.Val71=) n.699C>A c.216C>A (p.Val72=) c.210C>A (p.Val70=) | |
| 7 | g.44152422A>C | CA367403118 | GCK | c.*210T>G (n.*210T>G) c.212T>G (p.Val71Gly) n.698T>G c.215T>G (p.Val72Gly) c.209T>G (p.Val70Gly) | |
| 7 | g.44152422A>G | CA367403116 | GCK | c.*210T>C (n.*210T>C) c.212T>C (p.Val71Ala) n.698T>C c.215T>C (p.Val72Ala) c.209T>C (p.Val70Ala) | |
| 7 | g.44152422A>T | CA367403117 | GCK | c.*210T>A (n.*210T>A) c.212T>A (p.Val71Asp) n.698T>A c.215T>A (p.Val72Asp) c.209T>A (p.Val70Asp) | |
| 7 | g.44152423C>A | CA367403121 | GCK | c.*209G>T (n.*209G>T) c.211G>T (p.Val71Phe) n.697G>T c.214G>T (p.Val72Phe) c.208G>T (p.Val70Phe) | |
| 7 | g.44152423C>G | CA367403122 | GCK | c.*209G>C (n.*209G>C) c.211G>C (p.Val71Leu) n.697G>C c.214G>C (p.Val72Leu) c.208G>C (p.Val70Leu) | |
| 7 | g.44152423C>T | CA367403123 | GCK | c.*209G>A (n.*209G>A) c.211G>A (p.Val71Ile) n.697G>A c.214G>A (p.Val72Ile) c.208G>A (p.Val70Ile) | |
| 7 | g.44152424T>A | CA367403125 | GCK | c.*208A>T (n.*208A>T) c.210A>T (p.Glu70Asp) n.696A>T c.213A>T (p.Glu71Asp) c.207A>T (p.Glu69Asp) | |
| 7 | g.44152424T>C | CA454610350 | GCK | c.*208A>G (n.*208A>G) c.210A>G (p.Glu70=) n.696A>G c.213A>G (p.Glu71=) c.207A>G (p.Glu69=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44152424T>G | CA367403126 | GCK | c.*208A>C (n.*208A>C) c.210A>C (p.Glu70Asp) n.696A>C c.213A>C (p.Glu71Asp) c.207A>C (p.Glu69Asp) | |
| 7 | g.44152424T= | CA1703637082 | GCK | c.*208A= (n.*208A=) c.210A= (p.Glu70=) n.696A= c.213A= (p.Glu71=) c.207A= (p.Glu69=) | |
| 7 | g.44152425T>A | CA367403128 | GCK | c.*207A>T (n.*207A>T) c.209A>T (p.Glu70Val) n.695A>T c.212A>T (p.Glu71Val) c.206A>T (p.Glu69Val) | |
| 7 | g.44152425T>C | CA367403130 | GCK | c.*207A>G (n.*207A>G) c.209A>G (p.Glu70Gly) n.695A>G c.212A>G (p.Glu71Gly) c.206A>G (p.Glu69Gly) | |
| 7 | g.44152425T>G | CA367403132 | GCK | c.*207A>C (n.*207A>C) c.209A>C (p.Glu70Ala) n.695A>C c.212A>C (p.Glu71Ala) c.206A>C (p.Glu69Ala) | |
| 7 | g.44152426C>A | CA367403134 | GCK | c.*207-1G>T (n.*207-1G>T) c.209-1G>T (n.209-1G>T) n.695-1G>T c.212-1G>T (n.212-1G>T) c.206-1G>T (n.206-1G>T) | |
| 7 | g.44152426C= | CA1703637083 | GCK | c.*207-1G= (n.*207-1G=) c.209-1G= (n.209-1G=) n.695-1G= c.212-1G= (n.212-1G=) c.206-1G= (n.206-1G=) | |
| 7 | g.44152426C>G | CA367403135 | GCK | c.*207-1G>C (n.*207-1G>C) c.209-1G>C (n.209-1G>C) n.695-1G>C c.212-1G>C (n.212-1G>C) c.206-1G>C (n.206-1G>C) | |
| 7 | g.44152426C>T | CA367403137 | GCK | c.*207-1G>A (n.*207-1G>A) c.209-1G>A (n.209-1G>A) n.695-1G>A c.212-1G>A (n.212-1G>A) c.206-1G>A (n.206-1G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44152427T>A | CA367403143 | GCK | c.*207-2A>T (n.*207-2A>T) c.209-2A>T (n.209-2A>T) n.695-2A>T c.212-2A>T (n.212-2A>T) c.206-2A>T (n.206-2A>T) | gnomAD v4 |
| 7 | g.44152427T>C | CA367403139 | GCK | c.*207-2A>G (n.*207-2A>G) c.209-2A>G (n.209-2A>G) n.695-2A>G c.212-2A>G (n.212-2A>G) c.206-2A>G (n.206-2A>G) | |
| 7 | g.44152427T>G | CA367403141 | GCK | c.*207-2A>C (n.*207-2A>C) c.209-2A>C (n.209-2A>C) n.695-2A>C c.212-2A>C (n.212-2A>C) c.206-2A>C (n.206-2A>C) | |
| 7 | g.44152427_44152428delinsTA | CA1703637084 | GCK | c.*207-3_*207-2delinsTA (n.*207-3_*207-2delinsTA) c.209-3_209-2delinsTA (n.209-3_209-2delinsTA) n.695-3_695-2delinsTA c.212-3_212-2delinsTA (n.212-3_212-2delinsTA) c.206-3_206-2delinsTA (n.206-3_206-2delinsTA) | |
| 7 | g.44152428A= | CA1703637085 | GCK | c.*207-3T= (n.*207-3T=) c.209-3T= (n.209-3T=) n.695-3T= c.212-3T= (n.212-3T=) c.206-3T= (n.206-3T=) | |
| 7 | g.44152428A>G | CA838782853 | GCK | c.*207-3T>C (n.*207-3T>C) c.209-3T>C (n.209-3T>C) n.695-3T>C c.212-3T>C (n.212-3T>C) c.206-3T>C (n.206-3T>C) | dbSNP gnomAD v4 |
| 7 | g.44152430del | CA573798858 | GCK | c.*207-3del (n.*207-3del) c.209-3del (n.209-3del) n.695-3del c.212-3del (n.212-3del) c.206-3del (n.206-3del) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44152429A= | CA1703637086 | GCK | c.*207-4T= (n.*207-4T=) c.209-4T= (n.209-4T=) n.695-4T= c.212-4T= (n.212-4T=) c.206-4T= (n.206-4T=) | |
| 7 | g.44152429A>G | CA1703637087 | GCK | c.*207-4T>C (n.*207-4T>C) c.209-4T>C (n.209-4T>C) n.695-4T>C c.212-4T>C (n.212-4T>C) c.206-4T>C (n.206-4T>C) | dbSNP |
| 7 | g.44152430A= | CA1703637088 | GCK | c.*207-5T= (n.*207-5T=) c.209-5T= (n.209-5T=) n.695-5T= c.212-5T= (n.212-5T=) c.206-5T= (n.206-5T=) | |
| 7 | g.44152430A>G | CA2682576305 | GCK | c.*207-5T>C (n.*207-5T>C) c.209-5T>C (n.209-5T>C) n.695-5T>C c.212-5T>C (n.212-5T>C) c.206-5T>C (n.206-5T>C) | gnomAD v4 |
| 7 | g.44152430A>T | CA573798859 | GCK | c.*207-5T>A (n.*207-5T>A) c.209-5T>A (n.209-5T>A) n.695-5T>A c.212-5T>A (n.212-5T>A) c.206-5T>A (n.206-5T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44152432G>A | CA4239688 | GCK | c.*207-7C>T (n.*207-7C>T) c.209-7C>T (n.209-7C>T) n.695-7C>T c.212-7C>T (n.212-7C>T) c.206-7C>T (n.206-7C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44152432G>C | CA2682576310 | GCK | c.*207-7C>G (n.*207-7C>G) c.209-7C>G (n.209-7C>G) n.695-7C>G c.212-7C>G (n.212-7C>G) c.206-7C>G (n.206-7C>G) | gnomAD v4 |
| 7 | g.44152432G= | CA1703637089 | GCK | c.*207-7C= (n.*207-7C=) c.209-7C= (n.209-7C=) n.695-7C= c.212-7C= (n.212-7C=) c.206-7C= (n.206-7C=) | |
| 7 | g.44152432G>T | CA2682576312 | GCK | c.*207-7C>A (n.*207-7C>A) c.209-7C>A (n.209-7C>A) n.695-7C>A c.212-7C>A (n.212-7C>A) c.206-7C>A (n.206-7C>A) | gnomAD v4 |
| 7 | g.44152433C>A | CA2549752856 | GCK | c.*207-8G>T (n.*207-8G>T) c.209-8G>T (n.209-8G>T) n.695-8G>T c.212-8G>T (n.212-8G>T) c.206-8G>T (n.206-8G>T) | |
| 7 | g.44152433C= | CA1703637090 | GCK | c.*207-8G= (n.*207-8G=) c.209-8G= (n.209-8G=) n.695-8G= c.212-8G= (n.212-8G=) c.206-8G= (n.206-8G=) | |
| 7 | g.44152433C>T | CA213770 | GCK | c.*207-8G>A (n.*207-8G>A) c.209-8G>A (n.209-8G>A) n.695-8G>A c.212-8G>A (n.212-8G>A) c.206-8G>A (n.206-8G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44152435C= | CA1703637092 | GCK | c.*207-10G= (n.*207-10G=) c.209-10G= (n.209-10G=) n.695-10G= c.212-10G= (n.212-10G=) c.206-10G= (n.206-10G=) | |
| 7 | g.44152435C>T | CA838782858 | GCK | c.*207-10G>A (n.*207-10G>A) c.209-10G>A (n.209-10G>A) n.695-10G>A c.212-10G>A (n.212-10G>A) c.206-10G>A (n.206-10G>A) | dbSNP |
| 7 | g.44152435_44152437delinsCAG | CA1703637091 | GCK | c.*207-12_*207-10delinsCTG (n.*207-12_*207-10delinsCTG) c.209-12_209-10delinsCTG (n.209-12_209-10delinsCTG) n.695-12_695-10delinsCTG c.212-12_212-10delinsCTG (n.212-12_212-10delinsCTG) c.206-12_206-10delinsCTG (n.206-12_206-10delinsCTG) | |
| 7 | g.44152436A= | CA1703637093 | GCK | c.*207-11T= (n.*207-11T=) c.209-11T= (n.209-11T=) n.695-11T= c.212-11T= (n.212-11T=) c.206-11T= (n.206-11T=) | |
| 7 | g.44152436A>G | CA573798861 | GCK | c.*207-11T>C (n.*207-11T>C) c.209-11T>C (n.209-11T>C) n.695-11T>C c.212-11T>C (n.212-11T>C) c.206-11T>C (n.206-11T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44152441_44152442dup | CA4239689 | GCK | c.*207-12_*207-11dup (n.*207-12_*207-11dup) c.209-12_209-11dup (n.209-12_209-11dup) n.695-12_695-11dup c.212-12_212-11dup (n.212-12_212-11dup) c.206-12_206-11dup (n.206-12_206-11dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44152441_44152442del | CA573798860 | GCK | c.*207-12_*207-11del (n.*207-12_*207-11del) c.209-12_209-11del (n.209-12_209-11del) n.695-12_695-11del c.212-12_212-11del (n.212-12_212-11del) c.206-12_206-11del (n.206-12_206-11del) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44152439G>A | CA2682576331 | GCK | c.*207-14C>T (n.*207-14C>T) c.209-14C>T (n.209-14C>T) n.695-14C>T c.212-14C>T (n.212-14C>T) c.206-14C>T (n.206-14C>T) | gnomAD v4 |
| 7 | g.44152442A= | CA1703637094 | GCK | c.*207-17T= (n.*207-17T=) c.209-17T= (n.209-17T=) n.695-17T= c.212-17T= (n.212-17T=) c.206-17T= (n.206-17T=) | |
| 7 | g.44152442A>C | CA573798862 | GCK | c.*207-17T>G (n.*207-17T>G) c.209-17T>G (n.209-17T>G) n.695-17T>G c.212-17T>G (n.212-17T>G) c.206-17T>G (n.206-17T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44152442A>G | CA2682576336 | GCK | c.*207-17T>C (n.*207-17T>C) c.209-17T>C (n.209-17T>C) n.695-17T>C c.212-17T>C (n.212-17T>C) c.206-17T>C (n.206-17T>C) | gnomAD v4 |
| 7 | g.44152445T>G | CA1100761219 | GCK | c.*207-20A>C (n.*207-20A>C) c.209-20A>C (n.209-20A>C) n.695-20A>C c.212-20A>C (n.212-20A>C) c.206-20A>C (n.206-20A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.44152445T= | CA1703637095 | GCK | c.*207-20A= (n.*207-20A=) c.209-20A= (n.209-20A=) n.695-20A= c.212-20A= (n.212-20A=) c.206-20A= (n.206-20A=) | |
| 7 | g.44152447T>A | CA2682576340 | GCK | c.*207-22A>T (n.*207-22A>T) c.209-22A>T (n.209-22A>T) n.695-22A>T c.212-22A>T (n.212-22A>T) c.206-22A>T (n.206-22A>T) | gnomAD v4 |
| 7 | g.44152447T>C | CA4239690 | GCK | c.*207-22A>G (n.*207-22A>G) c.209-22A>G (n.209-22A>G) n.695-22A>G c.212-22A>G (n.212-22A>G) c.206-22A>G (n.206-22A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44152447T= | CA1703637096 | GCK | c.*207-22A= (n.*207-22A=) c.209-22A= (n.209-22A=) n.695-22A= c.212-22A= (n.212-22A=) c.206-22A= (n.206-22A=) | |
| 7 | g.44152448G>A | CA4239691 | GCK | c.*207-23C>T (n.*207-23C>T) c.209-23C>T (n.209-23C>T) n.695-23C>T c.212-23C>T (n.212-23C>T) c.206-23C>T (n.206-23C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44152448G= | CA1703637097 | GCK | c.*207-23C= (n.*207-23C=) c.209-23C= (n.209-23C=) n.695-23C= c.212-23C= (n.212-23C=) c.206-23C= (n.206-23C=) | |
| 7 | g.44152452G>A | CA1703637099 | GCK | c.*207-27C>T (n.*207-27C>T) c.209-27C>T (n.209-27C>T) n.695-27C>T c.212-27C>T (n.212-27C>T) c.206-27C>T (n.206-27C>T) | dbSNP |
| 7 | g.44152452G>C | CA2682576347 | GCK | c.*207-27C>G (n.*207-27C>G) c.209-27C>G (n.209-27C>G) n.695-27C>G c.212-27C>G (n.212-27C>G) c.206-27C>G (n.206-27C>G) | gnomAD v4 |
| 7 | g.44152452G= | CA1703637098 | GCK | c.*207-27C= (n.*207-27C=) c.209-27C= (n.209-27C=) n.695-27C= c.212-27C= (n.212-27C=) c.206-27C= (n.206-27C=) | |
| 7 | g.44152453C>A | CA2682576350 | GCK | c.*207-28G>T (n.*207-28G>T) c.209-28G>T (n.209-28G>T) n.695-28G>T c.212-28G>T (n.212-28G>T) c.206-28G>T (n.206-28G>T) | gnomAD v4 |
| 7 | g.44152454C>A | CA2682576353 | GCK | c.*207-29G>T (n.*207-29G>T) c.209-29G>T (n.209-29G>T) n.695-29G>T c.212-29G>T (n.212-29G>T) c.206-29G>T (n.206-29G>T) | gnomAD v4 |
| 7 | g.44152454C= | CA1703637100 | GCK | c.*207-29G= (n.*207-29G=) c.209-29G= (n.209-29G=) n.695-29G= c.212-29G= (n.212-29G=) c.206-29G= (n.206-29G=) | |
| 7 | g.44152454C>T | CA4239692 | GCK | c.*207-29G>A (n.*207-29G>A) c.209-29G>A (n.209-29G>A) n.695-29G>A c.212-29G>A (n.212-29G>A) c.206-29G>A (n.206-29G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44152456C= | CA1703637101 | GCK | c.*207-31G= (n.*207-31G=) c.209-31G= (n.209-31G=) n.695-31G= c.212-31G= (n.212-31G=) c.206-31G= (n.206-31G=) | |
| 7 | g.44152456C>T | CA4239693 | GCK | c.*207-31G>A (n.*207-31G>A) c.209-31G>A (n.209-31G>A) n.695-31G>A c.212-31G>A (n.212-31G>A) c.206-31G>A (n.206-31G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44152457A>G | CA2775231588 | GCK | c.*207-32T>C (n.*207-32T>C) c.209-32T>C (n.209-32T>C) n.695-32T>C c.212-32T>C (n.212-32T>C) c.206-32T>C (n.206-32T>C) | |
| 7 | g.44152458G= | CA1703637102 | GCK | c.*207-33C= (n.*207-33C=) c.209-33C= (n.209-33C=) n.695-33C= c.212-33C= (n.212-33C=) c.206-33C= (n.206-33C=) | |
| 7 | g.44152458G>T | CA573798863 | GCK | c.*207-33C>A (n.*207-33C>A) c.209-33C>A (n.209-33C>A) n.695-33C>A c.212-33C>A (n.212-33C>A) c.206-33C>A (n.206-33C>A) | dbSNP gnomAD v2 |
| 7 | g.44152459G>A | CA573798864 | GCK | c.*207-34C>T (n.*207-34C>T) c.209-34C>T (n.209-34C>T) n.695-34C>T c.212-34C>T (n.212-34C>T) c.206-34C>T (n.206-34C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44152459G>C | CA838782875 | GCK | c.*207-34C>G (n.*207-34C>G) c.209-34C>G (n.209-34C>G) n.695-34C>G c.212-34C>G (n.212-34C>G) c.206-34C>G (n.206-34C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.44152459G= | CA1703637103 | GCK | c.*207-34C= (n.*207-34C=) c.209-34C= (n.209-34C=) n.695-34C= c.212-34C= (n.212-34C=) c.206-34C= (n.206-34C=) | |
| 7 | g.44152460G>C | CA1703637105 | GCK | c.*207-35C>G (n.*207-35C>G) c.209-35C>G (n.209-35C>G) n.695-35C>G c.212-35C>G (n.212-35C>G) c.206-35C>G (n.206-35C>G) | dbSNP |
| 7 | g.44152460G= | CA1703637104 | GCK | c.*207-35C= (n.*207-35C=) c.209-35C= (n.209-35C=) n.695-35C= c.212-35C= (n.212-35C=) c.206-35C= (n.206-35C=) | |
| 7 | g.44152462C= | CA1703637106 | GCK | c.*207-37G= (n.*207-37G=) c.209-37G= (n.209-37G=) n.695-37G= c.212-37G= (n.212-37G=) c.206-37G= (n.206-37G=) | |
| 7 | g.44152462C>T | CA573798865 | GCK | c.*207-37G>A (n.*207-37G>A) c.209-37G>A (n.209-37G>A) n.695-37G>A c.212-37G>A (n.212-37G>A) c.206-37G>A (n.206-37G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44152464C>A | CA2578878515 | GCK | c.*207-39G>T (n.*207-39G>T) c.209-39G>T (n.209-39G>T) n.695-39G>T c.212-39G>T (n.212-39G>T) c.206-39G>T (n.206-39G>T) | gnomAD v4 |
| 7 | g.44152465C>A | CA573798866 | GCK | c.*207-40G>T (n.*207-40G>T) c.209-40G>T (n.209-40G>T) n.695-40G>T c.212-40G>T (n.212-40G>T) c.206-40G>T (n.206-40G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44152465C= | CA1703637107 | GCK | c.*207-40G= (n.*207-40G=) c.209-40G= (n.209-40G=) n.695-40G= c.212-40G= (n.212-40G=) c.206-40G= (n.206-40G=) | |
| 7 | g.44152465C>G | CA1703637108 | GCK | c.*207-40G>C (n.*207-40G>C) c.209-40G>C (n.209-40G>C) n.695-40G>C c.212-40G>C (n.212-40G>C) c.206-40G>C (n.206-40G>C) | dbSNP |
| 7 | g.44152465C>T | CA2596580429 | GCK | c.*207-40G>A (n.*207-40G>A) c.209-40G>A (n.209-40G>A) n.695-40G>A c.212-40G>A (n.212-40G>A) c.206-40G>A (n.206-40G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.44152466C>A | CA2578878516 | GCK | c.*207-41G>T (n.*207-41G>T) c.209-41G>T (n.209-41G>T) n.695-41G>T c.212-41G>T (n.212-41G>T) c.206-41G>T (n.206-41G>T) | |
| 7 | g.44152466C= | CA1703637109 | GCK | c.*207-41G= (n.*207-41G=) c.209-41G= (n.209-41G=) n.695-41G= c.212-41G= (n.212-41G=) c.206-41G= (n.206-41G=) | |
| 7 | g.44152466C>T | CA573798867 | GCK | c.*207-41G>A (n.*207-41G>A) c.209-41G>A (n.209-41G>A) n.695-41G>A c.212-41G>A (n.212-41G>A) c.206-41G>A (n.206-41G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44152468C= | CA1703637110 | GCK | c.*207-43G= (n.*207-43G=) c.209-43G= (n.209-43G=) n.695-43G= c.212-43G= (n.212-43G=) c.206-43G= (n.206-43G=) | |
| 7 | g.44152468C>T | CA4239694 | GCK | c.*207-43G>A (n.*207-43G>A) c.209-43G>A (n.209-43G>A) n.695-43G>A c.212-43G>A (n.212-43G>A) c.206-43G>A (n.206-43G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44152471G>A | CA4239696 | GCK | c.*207-46C>T (n.*207-46C>T) c.209-46C>T (n.209-46C>T) n.695-46C>T c.212-46C>T (n.212-46C>T) c.206-46C>T (n.206-46C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44152471G= | CA1703637111 | GCK | c.*207-46C= (n.*207-46C=) c.209-46C= (n.209-46C=) n.695-46C= c.212-46C= (n.212-46C=) c.206-46C= (n.206-46C=) | |
| 7 | g.44152471G>T | CA4239695 | GCK | c.*207-46C>A (n.*207-46C>A) c.209-46C>A (n.209-46C>A) n.695-46C>A c.212-46C>A (n.212-46C>A) c.206-46C>A (n.206-46C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |