| 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.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) | |
| 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 |
| 7 | g.44149783T>A | CA367401201 | GCK | c.*654A>T (n.*654A>T) c.656A>T (p.Gln219Leu) n.1142A>T c.659A>T (p.Gln220Leu) c.653A>T (p.Gln218Leu) c.605A>T (p.Gln202Leu) | |
| 7 | g.44149783T>C | CA367401203 | GCK | c.*654A>G (n.*654A>G) c.656A>G (p.Gln219Arg) n.1142A>G c.659A>G (p.Gln220Arg) c.653A>G (p.Gln218Arg) c.605A>G (p.Gln202Arg) | gnomAD v4 |
| 7 | g.44149783T>G | CA367401204 | GCK | c.*654A>C (n.*654A>C) c.656A>C (p.Gln219Pro) n.1142A>C c.659A>C (p.Gln220Pro) c.653A>C (p.Gln218Pro) c.605A>C (p.Gln202Pro) | |
| 7 | g.44149784G>A | CA157917224 | GCK | c.*653C>T (n.*653C>T) c.655C>T (p.Gln219Ter) n.1141C>T c.658C>T (p.Gln220Ter) c.652C>T (p.Gln218Ter) c.604C>T (p.Gln202Ter) | dbSNP |
| 7 | g.44149784G>C | CA367401207 | GCK | c.*653C>G (n.*653C>G) c.655C>G (p.Gln219Glu) n.1141C>G c.658C>G (p.Gln220Glu) c.652C>G (p.Gln218Glu) c.604C>G (p.Gln202Glu) | |
| 7 | g.44149784G= | CA1703635861 | GCK | c.*653C= (n.*653C=) c.655C= (p.Gln219=) n.1141C= c.658C= (p.Gln220=) c.652C= (p.Gln218=) c.604C= (p.Gln202=) | |
| 7 | g.44149784G>T | CA367401208 | GCK | c.*653C>A (n.*653C>A) c.655C>A (p.Gln219Lys) n.1141C>A c.658C>A (p.Gln220Lys) c.652C>A (p.Gln218Lys) c.604C>A (p.Gln202Lys) | |
| 7 | g.44149785A>C | CA367401210 | GCK | c.*652T>G (n.*652T>G) c.654T>G (p.His218Gln) n.1140T>G c.657T>G (p.His219Gln) c.651T>G (p.His217Gln) c.603T>G (p.His201Gln) | gnomAD v4 |
| 7 | g.44149785A>G | CA454609008 | GCK | c.*652T>C (n.*652T>C) c.654T>C (p.His218=) n.1140T>C c.657T>C (p.His219=) c.651T>C (p.His217=) c.603T>C (p.His201=) | |
| 7 | g.44149785A>T | CA367401211 | GCK | c.*652T>A (n.*652T>A) c.654T>A (p.His218Gln) n.1140T>A c.657T>A (p.His219Gln) c.651T>A (p.His217Gln) c.603T>A (p.His201Gln) | gnomAD v4 |
| 7 | g.44149786T>A | CA367401214 | GCK | c.*651A>T (n.*651A>T) c.653A>T (p.His218Leu) n.1139A>T c.656A>T (p.His219Leu) c.650A>T (p.His217Leu) c.602A>T (p.His201Leu) | |
| 7 | g.44149786T>C | CA367401216 | GCK | c.*651A>G (n.*651A>G) c.653A>G (p.His218Arg) n.1139A>G c.656A>G (p.His219Arg) c.650A>G (p.His217Arg) c.602A>G (p.His201Arg) | |
| 7 | g.44149786T>G | CA367401213 | GCK | c.*651A>C (n.*651A>C) c.653A>C (p.His218Pro) n.1139A>C c.656A>C (p.His219Pro) c.650A>C (p.His217Pro) c.602A>C (p.His201Pro) | |
| 7 | g.44149787G>A | CA367401218 | GCK | c.*650C>T (n.*650C>T) c.652C>T (p.His218Tyr) n.1138C>T c.655C>T (p.His219Tyr) c.649C>T (p.His217Tyr) c.601C>T (p.His201Tyr) | |
| 7 | g.44149787G>C | CA367401220 | GCK | c.*650C>G (n.*650C>G) c.652C>G (p.His218Asp) n.1138C>G c.655C>G (p.His219Asp) c.649C>G (p.His217Asp) c.601C>G (p.His201Asp) | |
| 7 | g.44149787G>T | CA367401221 | GCK | c.*650C>A (n.*650C>A) c.652C>A (p.His218Asn) n.1138C>A c.655C>A (p.His219Asn) c.649C>A (p.His217Asn) c.601C>A (p.His201Asn) | |
| 7 | g.44149788G>A | CA454609015 | GCK | c.*649C>T (n.*649C>T) c.651C>T (p.Asp217=) n.1137C>T c.654C>T (p.Asp218=) c.648C>T (p.Asp216=) c.600C>T (p.Asp200=) | |
| 7 | g.44149788G>C | CA367401222 | GCK | c.*649C>G (n.*649C>G) c.651C>G (p.Asp217Glu) n.1137C>G c.654C>G (p.Asp218Glu) c.648C>G (p.Asp216Glu) c.600C>G (p.Asp200Glu) | |
| 7 | g.44149788G>T | CA367401223 | GCK | c.*649C>A (n.*649C>A) c.651C>A (p.Asp217Glu) n.1137C>A c.654C>A (p.Asp218Glu) c.648C>A (p.Asp216Glu) c.600C>A (p.Asp200Glu) | |
| 7 | g.44149789T>A | CA367401225 | GCK | c.*648A>T (n.*648A>T) c.650A>T (p.Asp217Val) n.1136A>T c.653A>T (p.Asp218Val) c.647A>T (p.Asp216Val) c.599A>T (p.Asp200Val) | |
| 7 | g.44149789T>C | CA367401226 | GCK | c.*648A>G (n.*648A>G) c.650A>G (p.Asp217Gly) n.1136A>G c.653A>G (p.Asp218Gly) c.647A>G (p.Asp216Gly) c.599A>G (p.Asp200Gly) | |
| 7 | g.44149789T>G | CA367401227 | GCK | c.*648A>C (n.*648A>C) c.650A>C (p.Asp217Ala) n.1136A>C c.653A>C (p.Asp218Ala) c.647A>C (p.Asp216Ala) c.599A>C (p.Asp200Ala) | |
| 7 | g.44149790C>A | CA367401228 | GCK | c.*647G>T (n.*647G>T) c.649G>T (p.Asp217Tyr) n.1135G>T c.652G>T (p.Asp218Tyr) c.646G>T (p.Asp216Tyr) c.598G>T (p.Asp200Tyr) | |
| 7 | g.44149790C= | CA1703635862 | GCK | c.*647G= (n.*647G=) c.649G= (p.Asp217=) n.1135G= c.652G= (p.Asp218=) c.646G= (p.Asp216=) c.598G= (p.Asp200=) | |
| 7 | g.44149790C>G | CA367401229 | GCK | c.*647G>C (n.*647G>C) c.649G>C (p.Asp217His) n.1135G>C c.652G>C (p.Asp218His) c.646G>C (p.Asp216His) c.598G>C (p.Asp200His) | |
| 7 | g.44149790C>T | CA4239564 | GCK | c.*647G>A (n.*647G>A) c.649G>A (p.Asp217Asn) n.1135G>A c.652G>A (p.Asp218Asn) c.646G>A (p.Asp216Asn) c.598G>A (p.Asp200Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44149791T>A | CA367401230 | GCK | c.*646A>T (n.*646A>T) c.648A>T (p.Glu216Asp) n.1134A>T c.651A>T (p.Glu217Asp) c.645A>T (p.Glu215Asp) c.597A>T (p.Glu199Asp) | |
| 7 | g.44149791T>C | CA454609024 | GCK | c.*646A>G (n.*646A>G) c.648A>G (p.Glu216=) n.1134A>G c.651A>G (p.Glu217=) c.645A>G (p.Glu215=) c.597A>G (p.Glu199=) |