| 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.44149768_44149778dup | CA2695203127 | GCK | c.*661_*671dup (n.*661_*671dup) c.663_673dup (p.Ile225ArgfsTer4) n.1149_1159dup c.666_676dup (p.Ile226ArgfsTer4) c.660_670dup (p.Ile224ArgfsTer4) c.612_622dup (p.Ile208ArgfsTer4) | |
| 7 | g.44149770G>A | CA454608971 | GCK | c.*667C>T (n.*667C>T) c.669C>T (p.Gly223=) n.1155C>T c.672C>T (p.Gly224=) c.666C>T (p.Gly222=) c.618C>T (p.Gly206=) n.285G>A | |
| 7 | g.44149770G>C | CA454608970 | GCK | c.*667C>G (n.*667C>G) c.669C>G (p.Gly223=) n.1155C>G c.672C>G (p.Gly224=) c.666C>G (p.Gly222=) c.618C>G (p.Gly206=) n.285G>C | |
| 7 | g.44149770G>T | CA454608969 | GCK | c.*667C>A (n.*667C>A) c.669C>A (p.Gly223=) n.1155C>A c.672C>A (p.Gly224=) c.666C>A (p.Gly222=) c.618C>A (p.Gly206=) n.285G>T | |
| 7 | g.44149771C>A | CA367401157 | GCK | c.*666G>T (n.*666G>T) c.668G>T (p.Gly223Val) n.1154G>T c.671G>T (p.Gly224Val) c.665G>T (p.Gly222Val) c.617G>T (p.Gly206Val) n.286C>A | ClinVar |
| 7 | g.44149771C>G | CA367401159 | GCK | c.*666G>C (n.*666G>C) c.668G>C (p.Gly223Ala) n.1154G>C c.671G>C (p.Gly224Ala) c.665G>C (p.Gly222Ala) c.617G>C (p.Gly206Ala) n.286C>G | |
| 7 | g.44149771C>T | CA367401160 | GCK | c.*666G>A (n.*666G>A) c.668G>A (p.Gly223Asp) n.1154G>A c.671G>A (p.Gly224Asp) c.665G>A (p.Gly222Asp) c.617G>A (p.Gly206Asp) n.286C>T | |
| 7 | g.44149772C>A | CA367401162 | GCK | c.*665G>T (n.*665G>T) c.667G>T (p.Gly223Cys) n.1153G>T c.670G>T (p.Gly224Cys) c.664G>T (p.Gly222Cys) c.616G>T (p.Gly206Cys) n.287C>A | |
| 7 | g.44149772C= | CA1703635855 | GCK | c.*665G= (n.*665G=) c.667G= (p.Gly223=) n.1153G= c.670G= (p.Gly224=) c.664G= (p.Gly222=) c.616G= (p.Gly206=) n.287C= | |
| 7 | g.44149772C>G | CA367401164 | GCK | c.*665G>C (n.*665G>C) c.667G>C (p.Gly223Arg) n.1153G>C c.670G>C (p.Gly224Arg) c.664G>C (p.Gly222Arg) c.616G>C (p.Gly206Arg) n.287C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44149772C>T | CA367401165 | GCK | c.*665G>A (n.*665G>A) c.667G>A (p.Gly223Ser) n.1153G>A c.670G>A (p.Gly224Ser) c.664G>A (p.Gly222Ser) c.616G>A (p.Gly206Ser) n.287C>T | ClinVar dbSNP gnomAD v4 |
| 7 | g.44149772_44149773delinsCG | CA1703635854 | GCK | c.*664_*665delinsCG (n.*664_*665delinsCG) c.666_667delinsCG (p.Val222=) n.1152_1153delinsCG c.669_670delinsCG (p.Val223=) c.663_664delinsCG (p.Val221=) c.615_616delinsCG (p.Val205=) n.287_288delinsCG | |
| 7 | g.44149773del | CA1139660057 | GCK | c.*664del (n.*664del) c.666del (p.Gly223AlafsTer2) n.1152del c.669del (p.Gly224AlafsTer2) c.663del (p.Gly222AlafsTer2) c.615del (p.Gly206AlafsTer2) n.288del | ClinVar dbSNP |
| 7 | g.44149773G>A | CA213825 | GCK | c.*664C>T (n.*664C>T) c.666C>T (p.Val222=) n.1152C>T c.669C>T (p.Val223=) c.663C>T (p.Val221=) c.615C>T (p.Val205=) n.288G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44149773G>C | CA454608975 | GCK | c.*664C>G (n.*664C>G) c.666C>G (p.Val222=) n.1152C>G c.669C>G (p.Val223=) c.663C>G (p.Val221=) c.615C>G (p.Val205=) n.288G>C | |
| 7 | g.44149773G= | CA1703635856 | GCK | c.*664C= (n.*664C=) c.666C= (p.Val222=) n.1152C= c.669C= (p.Val223=) c.663C= (p.Val221=) c.615C= (p.Val205=) n.288G= | |
| 7 | g.44149773G>T | CA454608973 | GCK | c.*664C>A (n.*664C>A) c.666C>A (p.Val222=) n.1152C>A c.669C>A (p.Val223=) c.663C>A (p.Val221=) c.615C>A (p.Val205=) n.288G>T | ClinVar gnomAD v4 |
| 7 | g.44149774A>C | CA367401167 | GCK | c.*663T>G (n.*663T>G) c.665T>G (p.Val222Gly) n.1151T>G c.668T>G (p.Val223Gly) c.662T>G (p.Val221Gly) c.614T>G (p.Val205Gly) | |
| 7 | g.44149774A>G | CA367401168 | GCK | c.*663T>C (n.*663T>C) c.665T>C (p.Val222Ala) n.1151T>C c.668T>C (p.Val223Ala) c.662T>C (p.Val221Ala) c.614T>C (p.Val205Ala) | COSMIC COSMIC COSMIC |
| 7 | g.44149774A>T | CA367401170 | GCK | c.*663T>A (n.*663T>A) c.665T>A (p.Val222Asp) n.1151T>A c.668T>A (p.Val223Asp) c.662T>A (p.Val221Asp) c.614T>A (p.Val205Asp) | |
| 7 | g.44149775C>A | CA367401174 | GCK | c.*662G>T (n.*662G>T) c.664G>T (p.Val222Phe) n.1150G>T c.667G>T (p.Val223Phe) c.661G>T (p.Val221Phe) c.613G>T (p.Val205Phe) | |
| 7 | g.44149775C>G | CA367401175 | GCK | c.*662G>C (n.*662G>C) c.664G>C (p.Val222Leu) n.1150G>C c.667G>C (p.Val223Leu) c.661G>C (p.Val221Leu) c.613G>C (p.Val205Leu) | |
| 7 | g.44149775C>T | CA367401172 | GCK | c.*662G>A (n.*662G>A) c.664G>A (p.Val222Ile) n.1150G>A c.667G>A (p.Val223Ile) c.661G>A (p.Val221Ile) c.613G>A (p.Val205Ile) | gnomAD v4 |
| 7 | g.44149776C>A | CA367401176 | GCK | c.*661G>T (n.*661G>T) c.663G>T (p.Glu221Asp) n.1149G>T c.666G>T (p.Glu222Asp) c.660G>T (p.Glu220Asp) c.612G>T (p.Glu204Asp) | |
| 7 | g.44149776C>G | CA367401177 | GCK | c.*661G>C (n.*661G>C) c.663G>C (p.Glu221Asp) n.1149G>C c.666G>C (p.Glu222Asp) c.660G>C (p.Glu220Asp) c.612G>C (p.Glu204Asp) | |
| 7 | g.44149776C>T | CA454608979 | GCK | c.*661G>A (n.*661G>A) c.663G>A (p.Glu221=) n.1149G>A c.666G>A (p.Glu222=) c.660G>A (p.Glu220=) c.612G>A (p.Glu204=) | |
| 7 | g.44149777T>A | CA367401179 | GCK | c.*660A>T (n.*660A>T) c.662A>T (p.Glu221Val) n.1148A>T c.665A>T (p.Glu222Val) c.659A>T (p.Glu220Val) c.611A>T (p.Glu204Val) | |
| 7 | g.44149777T>C | CA367401181 | GCK | c.*660A>G (n.*660A>G) c.662A>G (p.Glu221Gly) n.1148A>G c.665A>G (p.Glu222Gly) c.659A>G (p.Glu220Gly) c.611A>G (p.Glu204Gly) | |
| 7 | g.44149777T>G | CA367401182 | GCK | c.*660A>C (n.*660A>C) c.662A>C (p.Glu221Ala) n.1148A>C c.665A>C (p.Glu222Ala) c.659A>C (p.Glu220Ala) c.611A>C (p.Glu204Ala) | |
| 7 | g.44149778C>A | CA367401183 | GCK | c.*659G>T (n.*659G>T) c.661G>T (p.Glu221Ter) n.1147G>T c.664G>T (p.Glu222Ter) c.658G>T (p.Glu220Ter) c.610G>T (p.Glu204Ter) | |
| 7 | g.44149778C= | CA1703635857 | GCK | c.*659G= (n.*659G=) c.661G= (p.Glu221=) n.1147G= c.664G= (p.Glu222=) c.658G= (p.Glu220=) c.610G= (p.Glu204=) | |
| 7 | g.44149778C>G | CA367401185 | GCK | c.*659G>C (n.*659G>C) c.661G>C (p.Glu221Gln) n.1147G>C c.664G>C (p.Glu222Gln) c.658G>C (p.Glu220Gln) c.610G>C (p.Glu204Gln) | |
| 7 | g.44149778C>T | CA213824 | GCK | c.*659G>A (n.*659G>A) c.661G>A (p.Glu221Lys) n.1147G>A c.664G>A (p.Glu222Lys) c.658G>A (p.Glu220Lys) c.610G>A (p.Glu204Lys) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44149779G>A | CA4239563 | GCK | c.*658C>T (n.*658C>T) c.660C>T (p.Cys220=) n.1146C>T c.663C>T (p.Cys221=) c.657C>T (p.Cys219=) c.609C>T (p.Cys203=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.44149779G>C | CA367401188 | GCK | c.*658C>G (n.*658C>G) c.660C>G (p.Cys220Trp) n.1146C>G c.663C>G (p.Cys221Trp) c.657C>G (p.Cys219Trp) c.609C>G (p.Cys203Trp) | |
| 7 | g.44149779G= | CA1703635858 | GCK | c.*658C= (n.*658C=) c.660C= (p.Cys220=) n.1146C= c.663C= (p.Cys221=) c.657C= (p.Cys219=) c.609C= (p.Cys203=) | |
| 7 | g.44149779G>T | CA367401189 | GCK | c.*658C>A (n.*658C>A) c.660C>A (p.Cys220Ter) n.1146C>A c.663C>A (p.Cys221Ter) c.657C>A (p.Cys219Ter) c.609C>A (p.Cys203Ter) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44149780C>A | CA367401193 | GCK | c.*657G>T (n.*657G>T) c.659G>T (p.Cys220Phe) n.1145G>T c.662G>T (p.Cys221Phe) c.656G>T (p.Cys219Phe) c.608G>T (p.Cys203Phe) | ClinVar |
| 7 | g.44149780C= | CA1703635859 | GCK | c.*657G= (n.*657G=) c.659G= (p.Cys220=) n.1145G= c.662G= (p.Cys221=) c.656G= (p.Cys219=) c.608G= (p.Cys203=) | |
| 7 | g.44149780C>G | CA367401192 | GCK | c.*657G>C (n.*657G>C) c.659G>C (p.Cys220Ser) n.1145G>C c.662G>C (p.Cys221Ser) c.656G>C (p.Cys219Ser) c.608G>C (p.Cys203Ser) | |
| 7 | g.44149780C>T | CA213822 | GCK | c.*657G>A (n.*657G>A) c.659G>A (p.Cys220Tyr) n.1145G>A c.662G>A (p.Cys221Tyr) c.656G>A (p.Cys219Tyr) c.608G>A (p.Cys203Tyr) | ClinVar dbSNP |
| 7 | g.44149781A= | CA1703635860 | GCK | c.*656T= (n.*656T=) c.658T= (p.Cys220=) n.1144T= c.661T= (p.Cys221=) c.655T= (p.Cys219=) c.607T= (p.Cys203=) | |
| 7 | g.44149781A>C | CA367401195 | GCK | c.*656T>G (n.*656T>G) c.658T>G (p.Cys220Gly) n.1144T>G c.661T>G (p.Cys221Gly) c.655T>G (p.Cys219Gly) c.607T>G (p.Cys203Gly) | |
| 7 | g.44149781A>G | CA213820 | GCK | c.*656T>C (n.*656T>C) c.658T>C (p.Cys220Arg) n.1144T>C c.661T>C (p.Cys221Arg) c.655T>C (p.Cys219Arg) c.607T>C (p.Cys203Arg) | ClinVar dbSNP |
| 7 | g.44149781A>T | CA367401197 | GCK | c.*656T>A (n.*656T>A) c.658T>A (p.Cys220Ser) n.1144T>A c.661T>A (p.Cys221Ser) c.655T>A (p.Cys219Ser) c.607T>A (p.Cys203Ser) | gnomAD v4 |
| 7 | g.44149782C>A | CA367401199 | GCK | c.*655G>T (n.*655G>T) c.657G>T (p.Gln219His) n.1143G>T c.660G>T (p.Gln220His) c.654G>T (p.Gln218His) c.606G>T (p.Gln202His) | |
| 7 | g.44149782C>G | CA367401200 | GCK | c.*655G>C (n.*655G>C) c.657G>C (p.Gln219His) n.1143G>C c.660G>C (p.Gln220His) c.654G>C (p.Gln218His) c.606G>C (p.Gln202His) | |
| 7 | g.44149782C>T | CA454608998 | GCK | c.*655G>A (n.*655G>A) c.657G>A (p.Gln219=) n.1143G>A c.660G>A (p.Gln220=) c.654G>A (p.Gln218=) c.606G>A (p.Gln202=) | ClinVar |
| 7 | g.44149783del | CA2580077182 | GCK | c.*654del (n.*654del) c.656del (p.Gln219ArgfsTer6) n.1142del c.659del (p.Gln220ArgfsTer6) c.653del (p.Gln218ArgfsTer6) c.605del (p.Gln202ArgfsTer6) | ClinVar |