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.44149937_44149969del | CA2695203142 | GCK | c.*577+1_*577+33del c.579+1_579+33del n.1065+1_1065+33del c.582+1_582+33del c.576+1_576+33del c.528+1_528+33del | |
7 | g.44149968C>A | CA367401504 | GCK | c.*577+1G>T (n.*577+1G>T) c.579+1G>T (n.579+1G>T) n.1065+1G>T c.582+1G>T (n.582+1G>T) c.576+1G>T (n.576+1G>T) c.528+1G>T (n.528+1G>T) | |
7 | g.44149968C>G | CA367401506 | GCK | c.*577+1G>C (n.*577+1G>C) c.579+1G>C (n.579+1G>C) n.1065+1G>C c.582+1G>C (n.582+1G>C) c.576+1G>C (n.576+1G>C) c.528+1G>C (n.528+1G>C) | gnomAD v4 |
7 | g.44149968C>T | CA367401503 | GCK | c.*577+1G>A (n.*577+1G>A) c.579+1G>A (n.579+1G>A) n.1065+1G>A c.582+1G>A (n.582+1G>A) c.576+1G>A (n.576+1G>A) c.528+1G>A (n.528+1G>A) | ClinVar gnomAD v4 |
7 | g.44149969C>A | CA454609262 | GCK | c.*577G>T (n.*577G>T) c.579G>T (p.Gly193=) n.1065G>T c.582G>T (p.Gly194=) c.576G>T (p.Gly192=) c.528G>T (p.Gly176=) | ClinVar dbSNP |
7 | g.44149969C>G | CA454609264 | GCK | c.*577G>C (n.*577G>C) c.579G>C (p.Gly193=) n.1065G>C c.582G>C (p.Gly194=) c.576G>C (p.Gly192=) c.528G>C (p.Gly176=) | |
7 | g.44149969C>T | CA454609263 | GCK | c.*577G>A (n.*577G>A) c.579G>A (p.Gly193=) n.1065G>A c.582G>A (p.Gly194=) c.576G>A (p.Gly192=) c.528G>A (p.Gly176=) | |
7 | g.44149970C>A | CA367401507 | GCK | c.*576G>T (n.*576G>T) c.578G>T (p.Gly193Val) n.1064G>T c.581G>T (p.Gly194Val) c.575G>T (p.Gly192Val) c.527G>T (p.Gly176Val) | |
7 | g.44149970C>G | CA367401509 | GCK | c.*576G>C (n.*576G>C) c.578G>C (p.Gly193Ala) n.1064G>C c.581G>C (p.Gly194Ala) c.575G>C (p.Gly192Ala) c.527G>C (p.Gly176Ala) | |
7 | g.44149970C>T | CA367401510 | GCK | c.*576G>A (n.*576G>A) c.578G>A (p.Gly193Glu) n.1064G>A c.581G>A (p.Gly194Glu) c.575G>A (p.Gly192Glu) c.527G>A (p.Gly176Glu) | |
7 | g.44149971C>A | CA367401512 | GCK | c.*575G>T (n.*575G>T) c.577G>T (p.Gly193Trp) n.1063G>T c.580G>T (p.Gly194Trp) c.574G>T (p.Gly192Trp) c.526G>T (p.Gly176Trp) | |
7 | g.44149971C= | CA1703635956 | GCK | c.*575G= (n.*575G=) c.577G= (p.Gly193=) n.1063G= c.580G= (p.Gly194=) c.574G= (p.Gly192=) c.526G= (p.Gly176=) | |
7 | g.44149971C>G | CA4239599 | GCK | c.*575G>C (n.*575G>C) c.577G>C (p.Gly193Arg) n.1063G>C c.580G>C (p.Gly194Arg) c.574G>C (p.Gly192Arg) c.526G>C (p.Gly176Arg) | ClinVar dbSNP ExAC gnomAD v2 |
7 | g.44149971C>T | CA367401514 | GCK | c.*575G>A (n.*575G>A) c.577G>A (p.Gly193Arg) n.1063G>A c.580G>A (p.Gly194Arg) c.574G>A (p.Gly192Arg) c.526G>A (p.Gly176Arg) | COSMIC COSMIC COSMIC |
7 | g.44149972T>A | CA367401516 | GCK | c.*574A>T (n.*574A>T) c.576A>T (p.Arg192Ser) n.1062A>T c.579A>T (p.Arg193Ser) c.573A>T (p.Arg191Ser) c.525A>T (p.Arg175Ser) | |
7 | g.44149972T>C | CA454609269 | GCK | c.*574A>G (n.*574A>G) c.576A>G (p.Arg192=) n.1062A>G c.579A>G (p.Arg193=) c.573A>G (p.Arg191=) c.525A>G (p.Arg175=) | |
7 | g.44149972T>G | CA367401517 | GCK | c.*574A>C (n.*574A>C) c.576A>C (p.Arg192Ser) n.1062A>C c.579A>C (p.Arg193Ser) c.573A>C (p.Arg191Ser) c.525A>C (p.Arg175Ser) | ClinVar |
7 | g.44149973C>A | CA367401519 | GCK | c.*573G>T (n.*573G>T) c.575G>T (p.Arg192Ile) n.1061G>T c.578G>T (p.Arg193Ile) c.572G>T (p.Arg191Ile) c.524G>T (p.Arg175Ile) | |
7 | g.44149973C= | CA1703635957 | GCK | c.*573G= (n.*573G=) c.575G= (p.Arg192=) n.1061G= c.578G= (p.Arg193=) c.572G= (p.Arg191=) c.524G= (p.Arg175=) | |
7 | g.44149973C>G | CA367401520 | GCK | c.*573G>C (n.*573G>C) c.575G>C (p.Arg192Thr) n.1061G>C c.578G>C (p.Arg193Thr) c.572G>C (p.Arg191Thr) c.524G>C (p.Arg175Thr) | |
7 | g.44149973C>T | CA4239600 | GCK | c.*573G>A (n.*573G>A) c.575G>A (p.Arg192Lys) n.1061G>A c.578G>A (p.Arg193Lys) c.572G>A (p.Arg191Lys) c.524G>A (p.Arg175Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44149974T>A | CA367401523 | GCK | c.*572A>T (n.*572A>T) c.574A>T (p.Arg192Ter) n.1060A>T c.577A>T (p.Arg193Ter) c.571A>T (p.Arg191Ter) c.523A>T (p.Arg175Ter) | |
7 | g.44149974T>C | CA367401525 | GCK | c.*572A>G (n.*572A>G) c.574A>G (p.Arg192Gly) n.1060A>G c.577A>G (p.Arg193Gly) c.571A>G (p.Arg191Gly) c.523A>G (p.Arg175Gly) | |
7 | g.44149974T>G | CA4239601 | GCK | c.*572A>C (n.*572A>C) c.574A>C (p.Arg192=) n.1060A>C c.577A>C (p.Arg193=) c.571A>C (p.Arg191=) c.523A>C (p.Arg175=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44149974T= | CA1703635958 | GCK | c.*572A= (n.*572A=) c.574A= (p.Arg192=) n.1060A= c.577A= (p.Arg193=) c.571A= (p.Arg191=) c.523A= (p.Arg175=) | |
7 | g.44149975C>A | CA454609274 | GCK | c.*571G>T (n.*571G>T) c.573G>T (p.Arg191=) n.1059G>T c.576G>T (p.Arg192=) c.570G>T (p.Arg190=) c.522G>T (p.Arg174=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.44149975C= | CA1703635959 | GCK | c.*571G= (n.*571G=) c.573G= (p.Arg191=) n.1059G= c.576G= (p.Arg192=) c.570G= (p.Arg190=) c.522G= (p.Arg174=) | |
7 | g.44149975C>G | CA454609277 | GCK | c.*571G>C (n.*571G>C) c.573G>C (p.Arg191=) n.1059G>C c.576G>C (p.Arg192=) c.570G>C (p.Arg190=) c.522G>C (p.Arg174=) | |
7 | g.44149975C>T | CA454609275 | GCK | c.*571G>A (n.*571G>A) c.573G>A (p.Arg191=) n.1059G>A c.576G>A (p.Arg192=) c.570G>A (p.Arg190=) c.522G>A (p.Arg174=) | |
7 | g.44149976C>A | CA367401527 | GCK | c.*570G>T (n.*570G>T) c.572G>T (p.Arg191Leu) n.1058G>T c.575G>T (p.Arg192Leu) c.569G>T (p.Arg190Leu) c.521G>T (p.Arg174Leu) | |
7 | g.44149976C= | CA1703635960 | GCK | c.*570G= (n.*570G=) c.572G= (p.Arg191=) n.1058G= c.575G= (p.Arg192=) c.569G= (p.Arg190=) c.521G= (p.Arg174=) | |
7 | g.44149976C>G | CA367401529 | GCK | c.*570G>C (n.*570G>C) c.572G>C (p.Arg191Pro) n.1058G>C c.575G>C (p.Arg192Pro) c.569G>C (p.Arg190Pro) c.521G>C (p.Arg174Pro) | |
7 | g.44149976C>T | CA10604473 | GCK | c.*570G>A (n.*570G>A) c.572G>A (p.Arg191Gln) n.1058G>A c.575G>A (p.Arg192Gln) c.569G>A (p.Arg190Gln) c.521G>A (p.Arg174Gln) | ClinVar dbSNP COSMIC COSMIC COSMIC |
7 | g.44149977G>A | CA367401530 | GCK | c.*569C>T (n.*569C>T) c.571C>T (p.Arg191Trp) n.1057C>T c.574C>T (p.Arg192Trp) c.568C>T (p.Arg190Trp) c.520C>T (p.Arg174Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
7 | g.44149977G>C | CA367401531 | GCK | c.*569C>G (n.*569C>G) c.571C>G (p.Arg191Gly) n.1057C>G c.574C>G (p.Arg192Gly) c.568C>G (p.Arg190Gly) c.520C>G (p.Arg174Gly) | ClinVar dbSNP |
7 | g.44149977G= | CA1703635961 | GCK | c.*569C= (n.*569C=) c.571C= (p.Arg191=) n.1057C= c.574C= (p.Arg192=) c.568C= (p.Arg190=) c.520C= (p.Arg174=) | |
7 | g.44149977G>T | CA454609282 | GCK | c.*569C>A (n.*569C>A) c.571C>A (p.Arg191=) n.1057C>A c.574C>A (p.Arg192=) c.568C>A (p.Arg190=) c.520C>A (p.Arg174=) | dbSNP gnomAD v4 |
7 | g.44149978T>A | CA367401534 | GCK | c.*568A>T (n.*568A>T) c.570A>T (p.Lys190Asn) n.1056A>T c.573A>T (p.Lys191Asn) c.567A>T (p.Lys189Asn) c.519A>T (p.Lys173Asn) | |
7 | g.44149978T>C | CA454609283 | GCK | c.*568A>G (n.*568A>G) c.570A>G (p.Lys190=) n.1056A>G c.573A>G (p.Lys191=) c.567A>G (p.Lys189=) c.519A>G (p.Lys173=) | |
7 | g.44149978T>G | CA367401533 | GCK | c.*568A>C (n.*568A>C) c.570A>C (p.Lys190Asn) n.1056A>C c.573A>C (p.Lys191Asn) c.567A>C (p.Lys189Asn) c.519A>C (p.Lys173Asn) | |
7 | g.44149979T>A | CA367401535 | GCK | c.*567A>T (n.*567A>T) c.569A>T (p.Lys190Ile) n.1055A>T c.572A>T (p.Lys191Ile) c.566A>T (p.Lys189Ile) c.518A>T (p.Lys173Ile) | |
7 | g.44149979T>C | CA367401537 | GCK | c.*567A>G (n.*567A>G) c.569A>G (p.Lys190Arg) n.1055A>G c.572A>G (p.Lys191Arg) c.566A>G (p.Lys189Arg) c.518A>G (p.Lys173Arg) | |
7 | g.44149979T>G | CA367401539 | GCK | c.*567A>C (n.*567A>C) c.569A>C (p.Lys190Thr) n.1055A>C c.572A>C (p.Lys191Thr) c.566A>C (p.Lys189Thr) c.518A>C (p.Lys173Thr) | |
7 | g.44149980T>A | CA367401541 | GCK | c.*566A>T (n.*566A>T) c.568A>T (p.Lys190Ter) n.1054A>T c.571A>T (p.Lys191Ter) c.565A>T (p.Lys189Ter) c.517A>T (p.Lys173Ter) | ClinVar |
7 | g.44149980T>C | CA367401542 | GCK | c.*566A>G (n.*566A>G) c.568A>G (p.Lys190Glu) n.1054A>G c.571A>G (p.Lys191Glu) c.565A>G (p.Lys189Glu) c.517A>G (p.Lys173Glu) | ClinVar gnomAD v4 |
7 | g.44149980T>G | CA367401543 | GCK | c.*566A>C (n.*566A>C) c.568A>C (p.Lys190Gln) n.1054A>C c.571A>C (p.Lys191Gln) c.565A>C (p.Lys189Gln) c.517A>C (p.Lys173Gln) | gnomAD v4 |
7 | g.44149981G>A | CA454609291 | GCK | c.*565C>T (n.*565C>T) c.567C>T (p.Ile189=) n.1053C>T c.570C>T (p.Ile190=) c.564C>T (p.Ile188=) c.516C>T (p.Ile172=) | |
7 | g.44149981G>C | CA367401545 | GCK | c.*565C>G (n.*565C>G) c.567C>G (p.Ile189Met) n.1053C>G c.570C>G (p.Ile190Met) c.564C>G (p.Ile188Met) c.516C>G (p.Ile172Met) | ClinVar dbSNP gnomAD v4 |
7 | g.44149981G>T | CA454609292 | GCK | c.*565C>A (n.*565C>A) c.567C>A (p.Ile189=) n.1053C>A c.570C>A (p.Ile190=) c.564C>A (p.Ile188=) c.516C>A (p.Ile172=) | |
7 | g.44149982_44149985dup | CA2499218895 | GCK | c.*562_*565dup (n.*562_*565dup) c.564_567dup (p.Lys190TyrfsTer8) n.1050_1053dup c.567_570dup (p.Lys191TyrfsTer8) c.561_564dup (p.Lys189TyrfsTer8) c.513_516dup (p.Lys173TyrfsTer8) | ClinVar dbSNP |
7 | g.44149982A= | CA1703635962 | GCK | c.*564T= (n.*564T=) c.566T= (p.Ile189=) n.1052T= c.569T= (p.Ile190=) c.563T= (p.Ile188=) c.515T= (p.Ile172=) | |
7 | g.44149982A>C | CA367401548 | GCK | c.*564T>G (n.*564T>G) c.566T>G (p.Ile189Ser) n.1052T>G c.569T>G (p.Ile190Ser) c.563T>G (p.Ile188Ser) c.515T>G (p.Ile172Ser) | |
7 | g.44149982A>G | CA367401550 | GCK | c.*564T>C (n.*564T>C) c.566T>C (p.Ile189Thr) n.1052T>C c.569T>C (p.Ile190Thr) c.563T>C (p.Ile188Thr) c.515T>C (p.Ile172Thr) | ClinVar dbSNP gnomAD v4 |
7 | g.44149982A>T | CA367401547 | GCK | c.*564T>A (n.*564T>A) c.566T>A (p.Ile189Asn) n.1052T>A c.569T>A (p.Ile190Asn) c.563T>A (p.Ile188Asn) c.515T>A (p.Ile172Asn) | |
7 | g.44149982_44149983insGATA | CA2695203144 | GCK | c.*564_*565insATCT (n.*564_*565insATCT) c.566_567insATCT (p.Lys190SerfsTer8) n.1052_1053insATCT c.569_570insATCT (p.Lys191SerfsTer8) c.563_564insATCT (p.Lys189SerfsTer8) c.515_516insATCT (p.Lys173SerfsTer8) | |
7 | g.44149983T>A | CA367401552 | GCK | c.*563A>T (n.*563A>T) c.565A>T (p.Ile189Phe) n.1051A>T c.568A>T (p.Ile190Phe) c.562A>T (p.Ile188Phe) c.514A>T (p.Ile172Phe) | |
7 | g.44149983T>C | CA4239602 | GCK | c.*563A>G (n.*563A>G) c.565A>G (p.Ile189Val) n.1051A>G c.568A>G (p.Ile190Val) c.562A>G (p.Ile188Val) c.514A>G (p.Ile172Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.44149983T>G | CA367401554 | GCK | c.*563A>C (n.*563A>C) c.565A>C (p.Ile189Leu) n.1051A>C c.568A>C (p.Ile190Leu) c.562A>C (p.Ile188Leu) c.514A>C (p.Ile172Leu) | |
7 | g.44149983T= | CA1703635963 | GCK | c.*563A= (n.*563A=) c.565A= (p.Ile189=) n.1051A= c.568A= (p.Ile190=) c.562A= (p.Ile188=) c.514A= (p.Ile172=) | |
7 | g.44149983dup | CA2842717612 | GCK | c.*563dup (n.*563dup) c.565dup (p.Ile189AsnfsTer8) n.1051dup c.568dup (p.Ile190AsnfsTer8) c.562dup (p.Ile188AsnfsTer8) c.514dup (p.Ile172AsnfsTer8) | |
7 | g.44149984A= | CA1703635964 | GCK | c.*562T= (n.*562T=) c.564T= (p.Ala188=) n.1050T= c.567T= (p.Ala189=) c.561T= (p.Ala187=) c.513T= (p.Ala171=) | |
7 | g.44149984A>C | CA454609304 | GCK | c.*562T>G (n.*562T>G) c.564T>G (p.Ala188=) n.1050T>G c.567T>G (p.Ala189=) c.561T>G (p.Ala187=) c.513T>G (p.Ala171=) | |
7 | g.44149984A>G | CA4239603 | GCK | c.*562T>C (n.*562T>C) c.564T>C (p.Ala188=) n.1050T>C c.567T>C (p.Ala189=) c.561T>C (p.Ala187=) c.513T>C (p.Ala171=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
7 | g.44149984A>T | CA454609302 | GCK | c.*562T>A (n.*562T>A) c.564T>A (p.Ala188=) n.1050T>A c.567T>A (p.Ala189=) c.561T>A (p.Ala187=) c.513T>A (p.Ala171=) | |
7 | g.44149984_44149985delinsTT | CA2695203145 | GCK | c.*561_*562delinsAA (n.*561_*562delinsAA) c.563_564delinsAA (p.Ala188Glu) n.1049_1050delinsAA c.566_567delinsAA (p.Ala189Glu) c.560_561delinsAA (p.Ala187Glu) c.512_513delinsAA (p.Ala171Glu) | |
7 | g.44149985G>A | CA213802 | GCK | c.*561C>T (n.*561C>T) c.563C>T (p.Ala188Val) n.1049C>T c.566C>T (p.Ala189Val) c.560C>T (p.Ala187Val) c.512C>T (p.Ala171Val) | ClinVar dbSNP |
7 | g.44149985G>C | CA367401557 | GCK | c.*561C>G (n.*561C>G) c.563C>G (p.Ala188Gly) n.1049C>G c.566C>G (p.Ala189Gly) c.560C>G (p.Ala187Gly) c.512C>G (p.Ala171Gly) | |
7 | g.44149985G= | CA1703635965 | GCK | c.*561C= (n.*561C=) c.563C= (p.Ala188=) n.1049C= c.566C= (p.Ala189=) c.560C= (p.Ala187=) c.512C= (p.Ala171=) | |
7 | g.44149985G>T | CA367401558 | GCK | c.*561C>A (n.*561C>A) c.563C>A (p.Ala188Asp) n.1049C>A c.566C>A (p.Ala189Asp) c.560C>A (p.Ala187Asp) c.512C>A (p.Ala171Asp) | |
7 | g.44149986C>A | CA367401560 | GCK | c.*560G>T (n.*560G>T) c.562G>T (p.Ala188Ser) n.1048G>T c.565G>T (p.Ala189Ser) c.559G>T (p.Ala187Ser) c.511G>T (p.Ala171Ser) | |
7 | g.44149986C= | CA1703635966 | GCK | c.*560G= (n.*560G=) c.562G= (p.Ala188=) n.1048G= c.565G= (p.Ala189=) c.559G= (p.Ala187=) c.511G= (p.Ala171=) | |
7 | g.44149986C>G | CA367401562 | GCK | c.*560G>C (n.*560G>C) c.562G>C (p.Ala188Pro) n.1048G>C c.565G>C (p.Ala189Pro) c.559G>C (p.Ala187Pro) c.511G>C (p.Ala171Pro) | ClinVar |
7 | g.44149986C>T | CA4239604 | GCK | c.*560G>A (n.*560G>A) c.562G>A (p.Ala188Thr) n.1048G>A c.565G>A (p.Ala189Thr) c.559G>A (p.Ala187Thr) c.511G>A (p.Ala171Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.44149987G>A | CA4239605 | GCK | c.*559C>T (n.*559C>T) c.561C>T (p.Asp187=) n.1047C>T c.564C>T (p.Asp188=) c.558C>T (p.Asp186=) c.510C>T (p.Asp170=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
7 | g.44149987G>C | CA367401564 | GCK | c.*559C>G (n.*559C>G) c.561C>G (p.Asp187Glu) n.1047C>G c.564C>G (p.Asp188Glu) c.558C>G (p.Asp186Glu) c.510C>G (p.Asp170Glu) | |
7 | g.44149987G= | CA1703635967 | GCK | c.*559C= (n.*559C=) c.561C= (p.Asp187=) n.1047C= c.564C= (p.Asp188=) c.558C= (p.Asp186=) c.510C= (p.Asp170=) | |
7 | g.44149987G>T | CA157917490 | GCK | c.*559C>A (n.*559C>A) c.561C>A (p.Asp187Glu) n.1047C>A c.564C>A (p.Asp188Glu) c.558C>A (p.Asp186Glu) c.510C>A (p.Asp170Glu) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.44149988T>A | CA4239606 | GCK | c.*558A>T (n.*558A>T) c.560A>T (p.Asp187Val) n.1046A>T c.563A>T (p.Asp188Val) c.557A>T (p.Asp186Val) c.509A>T (p.Asp170Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.44149988T>C | CA367401569 | GCK | c.*558A>G (n.*558A>G) c.560A>G (p.Asp187Gly) n.1046A>G c.563A>G (p.Asp188Gly) c.557A>G (p.Asp186Gly) c.509A>G (p.Asp170Gly) | |
7 | g.44149988T>G | CA367401567 | GCK | c.*558A>C (n.*558A>C) c.560A>C (p.Asp187Ala) n.1046A>C c.563A>C (p.Asp188Ala) c.557A>C (p.Asp186Ala) c.509A>C (p.Asp170Ala) | |
7 | g.44149988T= | CA1703635968 | GCK | c.*558A= (n.*558A=) c.560A= (p.Asp187=) n.1046A= c.563A= (p.Asp188=) c.557A= (p.Asp186=) c.509A= (p.Asp170=) | |
7 | g.44149989C>A | CA367401570 | GCK | c.*557G>T (n.*557G>T) c.559G>T (p.Asp187Tyr) n.1045G>T c.562G>T (p.Asp188Tyr) c.556G>T (p.Asp186Tyr) c.508G>T (p.Asp170Tyr) | |
7 | g.44149989C>G | CA367401572 | GCK | c.*557G>C (n.*557G>C) c.559G>C (p.Asp187His) n.1045G>C c.562G>C (p.Asp188His) c.556G>C (p.Asp186His) c.508G>C (p.Asp170His) | |
7 | g.44149989C>T | CA367401574 | GCK | c.*557G>A (n.*557G>A) c.559G>A (p.Asp187Asn) n.1045G>A c.562G>A (p.Asp188Asn) c.556G>A (p.Asp186Asn) c.508G>A (p.Asp170Asn) | |
7 | g.44149990T>A | CA454609313 | GCK | c.*556A>T (n.*556A>T) c.558A>T (p.Arg186=) n.1044A>T c.561A>T (p.Arg187=) c.555A>T (p.Arg185=) c.507A>T (p.Arg169=) | |
7 | g.44149990T>C | CA454609314 | GCK | c.*556A>G (n.*556A>G) c.558A>G (p.Arg186=) n.1044A>G c.561A>G (p.Arg187=) c.555A>G (p.Arg185=) c.507A>G (p.Arg169=) | |
7 | g.44149990T>G | CA454609316 | GCK | c.*556A>C (n.*556A>C) c.558A>C (p.Arg186=) n.1044A>C c.561A>C (p.Arg187=) c.555A>C (p.Arg185=) c.507A>C (p.Arg169=) | |
7 | g.44149991C>A | CA367401576 | GCK | c.*555G>T (n.*555G>T) c.557G>T (p.Arg186Leu) n.1043G>T c.560G>T (p.Arg187Leu) c.554G>T (p.Arg185Leu) c.506G>T (p.Arg169Leu) | |
7 | g.44149991C= | CA1703635969 | GCK | c.*555G= (n.*555G=) c.557G= (p.Arg186=) n.1043G= c.560G= (p.Arg187=) c.554G= (p.Arg185=) c.506G= (p.Arg169=) | |
7 | g.44149991C>G | CA367401577 | GCK | c.*555G>C (n.*555G>C) c.557G>C (p.Arg186Pro) n.1043G>C c.560G>C (p.Arg187Pro) c.554G>C (p.Arg185Pro) c.506G>C (p.Arg169Pro) | |
7 | g.44149991C>T | CA367401578 | GCK | c.*555G>A (n.*555G>A) c.557G>A (p.Arg186Gln) n.1043G>A c.560G>A (p.Arg187Gln) c.554G>A (p.Arg185Gln) c.506G>A (p.Arg169Gln) | ClinVar dbSNP gnomAD v4 |
7 | g.44149992G>A | CA126209 | GCK | c.*554C>T (n.*554C>T) c.556C>T (p.Arg186Ter) n.1042C>T c.559C>T (p.Arg187Ter) c.553C>T (p.Arg185Ter) c.505C>T (p.Arg169Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.44149992G>C | CA367401579 | GCK | c.*554C>G (n.*554C>G) c.556C>G (p.Arg186Gly) n.1042C>G c.559C>G (p.Arg187Gly) c.553C>G (p.Arg185Gly) c.505C>G (p.Arg169Gly) | |
7 | g.44149992G= | CA1703635970 | GCK | c.*554C= (n.*554C=) c.556C= (p.Arg186=) n.1042C= c.559C= (p.Arg187=) c.553C= (p.Arg185=) c.505C= (p.Arg169=) | |
7 | g.44149992G>T | CA4239607 | GCK | c.*554C>A (n.*554C>A) c.556C>A (p.Arg186=) n.1042C>A c.559C>A (p.Arg187=) c.553C>A (p.Arg185=) c.505C>A (p.Arg169=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44149993C>A | CA454609325 | GCK | c.*553G>T (n.*553G>T) c.555G>T (p.Leu185=) n.1041G>T c.558G>T (p.Leu186=) c.552G>T (p.Leu184=) c.504G>T (p.Leu168=) | |
7 | g.44149993C>G | CA454609326 | GCK | c.*553G>C (n.*553G>C) c.555G>C (p.Leu185=) n.1041G>C c.558G>C (p.Leu186=) c.552G>C (p.Leu184=) c.504G>C (p.Leu168=) | |
7 | g.44149993C>T | CA454609330 | GCK | c.*553G>A (n.*553G>A) c.555G>A (p.Leu185=) n.1041G>A c.558G>A (p.Leu186=) c.552G>A (p.Leu184=) c.504G>A (p.Leu168=) | |
7 | g.44149994A= | CA1703635971 | GCK | c.*552T= (n.*552T=) c.554T= (p.Leu185=) n.1040T= c.557T= (p.Leu186=) c.551T= (p.Leu184=) c.503T= (p.Leu168=) | |
7 | g.44149994A>C | CA367401582 | GCK | c.*552T>G (n.*552T>G) c.554T>G (p.Leu185Arg) n.1040T>G c.557T>G (p.Leu186Arg) c.551T>G (p.Leu184Arg) c.503T>G (p.Leu168Arg) | ClinVar dbSNP |
7 | g.44149994A>G | CA367401583 | GCK | c.*552T>C (n.*552T>C) c.554T>C (p.Leu185Pro) n.1040T>C c.557T>C (p.Leu186Pro) c.551T>C (p.Leu184Pro) c.503T>C (p.Leu168Pro) | ClinVar |
7 | g.44149994A>T | CA367401584 | GCK | c.*552T>A (n.*552T>A) c.554T>A (p.Leu185Gln) n.1040T>A c.557T>A (p.Leu186Gln) c.551T>A (p.Leu184Gln) c.503T>A (p.Leu168Gln) | |
7 | g.44149995G>A | CA454609335 | GCK | c.*551C>T (n.*551C>T) c.553C>T (p.Leu185=) n.1039C>T c.556C>T (p.Leu186=) c.550C>T (p.Leu184=) c.502C>T (p.Leu168=) | |
7 | g.44149995G>C | CA367401585 | GCK | c.*551C>G (n.*551C>G) c.553C>G (p.Leu185Val) n.1039C>G c.556C>G (p.Leu186Val) c.550C>G (p.Leu184Val) c.502C>G (p.Leu168Val) | |
7 | g.44149995G>T | CA367401586 | GCK | c.*551C>A (n.*551C>A) c.553C>A (p.Leu185Met) n.1039C>A c.556C>A (p.Leu186Met) c.550C>A (p.Leu184Met) c.502C>A (p.Leu168Met) | |
7 | g.44149996A= | CA1703635972 | GCK | c.*550T= (n.*550T=) c.552T= (p.Leu184=) n.1038T= c.555T= (p.Leu185=) c.549T= (p.Leu183=) c.501T= (p.Leu167=) | |
7 | g.44149996A>C | CA454609337 | GCK | c.*550T>G (n.*550T>G) c.552T>G (p.Leu184=) n.1038T>G c.555T>G (p.Leu185=) c.549T>G (p.Leu183=) c.501T>G (p.Leu167=) | |
7 | g.44149996A>G | CA454609338 | GCK | c.*550T>C (n.*550T>C) c.552T>C (p.Leu184=) n.1038T>C c.555T>C (p.Leu185=) c.549T>C (p.Leu183=) c.501T>C (p.Leu167=) | dbSNP |
7 | g.44149996A>T | CA454609339 | GCK | c.*550T>A (n.*550T>A) c.552T>A (p.Leu184=) n.1038T>A c.555T>A (p.Leu185=) c.549T>A (p.Leu183=) c.501T>A (p.Leu167=) | |
7 | g.44149997A>C | CA367401588 | GCK | c.*549T>G (n.*549T>G) c.551T>G (p.Leu184Arg) n.1037T>G c.554T>G (p.Leu185Arg) c.548T>G (p.Leu183Arg) c.500T>G (p.Leu167Arg) | |
7 | g.44149997A>G | CA367401589 | GCK | c.*549T>C (n.*549T>C) c.551T>C (p.Leu184Pro) n.1037T>C c.554T>C (p.Leu185Pro) c.548T>C (p.Leu183Pro) c.500T>C (p.Leu167Pro) | ClinVar dbSNP |
7 | g.44149997A>T | CA367401587 | GCK | c.*549T>A (n.*549T>A) c.551T>A (p.Leu184His) n.1037T>A c.554T>A (p.Leu185His) c.548T>A (p.Leu183His) c.500T>A (p.Leu167His) | |
7 | g.44149998G>A | CA367401591 | GCK | c.*548C>T (n.*548C>T) c.550C>T (p.Leu184Phe) n.1036C>T c.553C>T (p.Leu185Phe) c.547C>T (p.Leu183Phe) c.499C>T (p.Leu167Phe) | |
7 | g.44149998G>C | CA367401592 | GCK | c.*548C>G (n.*548C>G) c.550C>G (p.Leu184Val) n.1036C>G c.553C>G (p.Leu185Val) c.547C>G (p.Leu183Val) c.499C>G (p.Leu167Val) | |
7 | g.44149998G>T | CA367401594 | GCK | c.*548C>A (n.*548C>A) c.550C>A (p.Leu184Ile) n.1036C>A c.553C>A (p.Leu185Ile) c.547C>A (p.Leu183Ile) c.499C>A (p.Leu167Ile) | |
7 | g.44149999C>A | CA454609348 | GCK | c.*547G>T (n.*547G>T) c.549G>T (p.Gly183=) n.1035G>T c.552G>T (p.Gly184=) c.546G>T (p.Gly182=) c.498G>T (p.Gly166=) | |
7 | g.44149999C= | CA1703635973 | GCK | c.*547G= (n.*547G=) c.549G= (p.Gly183=) n.1035G= c.552G= (p.Gly184=) c.546G= (p.Gly182=) c.498G= (p.Gly166=) | |
7 | g.44149999C>G | CA454609349 | GCK | c.*547G>C (n.*547G>C) c.549G>C (p.Gly183=) n.1035G>C c.552G>C (p.Gly184=) c.546G>C (p.Gly182=) c.498G>C (p.Gly166=) | |
7 | g.44149999C>T | CA4239608 | GCK | c.*547G>A (n.*547G>A) c.549G>A (p.Gly183=) n.1035G>A c.552G>A (p.Gly184=) c.546G>A (p.Gly182=) c.498G>A (p.Gly166=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.44150002del | CA2578878369 | GCK | c.*547del (n.*547del) c.549del (p.Leu184PhefsTer20) n.1035del c.552del (p.Leu185PhefsTer20) c.546del (p.Leu183PhefsTer20) c.498del (p.Leu167PhefsTer20) | |
7 | g.44150000C>A | CA367401596 | GCK | c.*546G>T (n.*546G>T) c.548G>T (p.Gly183Val) n.1034G>T c.551G>T (p.Gly184Val) c.545G>T (p.Gly182Val) c.497G>T (p.Gly166Val) | |
7 | g.44150000C>G | CA367401598 | GCK | c.*546G>C (n.*546G>C) c.548G>C (p.Gly183Ala) n.1034G>C c.551G>C (p.Gly184Ala) c.545G>C (p.Gly182Ala) c.497G>C (p.Gly166Ala) | |
7 | g.44150000C>T | CA367401599 | GCK | c.*546G>A (n.*546G>A) c.548G>A (p.Gly183Glu) n.1034G>A c.551G>A (p.Gly184Glu) c.545G>A (p.Gly182Glu) c.497G>A (p.Gly166Glu) | gnomAD v4 |
7 | g.44150001C>A | CA367401601 | GCK | c.*545G>T (n.*545G>T) c.547G>T (p.Gly183Trp) n.1033G>T c.550G>T (p.Gly184Trp) c.544G>T (p.Gly182Trp) c.496G>T (p.Gly166Trp) | |
7 | g.44150001C>G | CA367401602 | GCK | c.*545G>C (n.*545G>C) c.547G>C (p.Gly183Arg) n.1033G>C c.550G>C (p.Gly184Arg) c.544G>C (p.Gly182Arg) c.496G>C (p.Gly166Arg) | |
7 | g.44150001C>T | CA367401603 | GCK | c.*545G>A (n.*545G>A) c.547G>A (p.Gly183Arg) n.1033G>A c.550G>A (p.Gly184Arg) c.544G>A (p.Gly182Arg) c.496G>A (p.Gly166Arg) | |
7 | g.44150002C>A | CA454609459 | GCK | c.*544G>T (n.*544G>T) c.546G>T (p.Val182=) n.1032G>T c.549G>T (p.Val183=) c.543G>T (p.Val181=) c.495G>T (p.Val165=) | dbSNP |
7 | g.44150002C= | CA1703635974 | GCK | c.*544G= (n.*544G=) c.546G= (p.Val182=) n.1032G= c.549G= (p.Val183=) c.543G= (p.Val181=) c.495G= (p.Val165=) | |
7 | g.44150002C>G | CA454609460 | GCK | c.*544G>C (n.*544G>C) c.546G>C (p.Val182=) n.1032G>C c.549G>C (p.Val183=) c.543G>C (p.Val181=) c.495G>C (p.Val165=) | |
7 | g.44150002C>T | CA454609461 | GCK | c.*544G>A (n.*544G>A) c.546G>A (p.Val182=) n.1032G>A c.549G>A (p.Val183=) c.543G>A (p.Val181=) c.495G>A (p.Val165=) | |
7 | g.44150003A>C | CA367401605 | GCK | c.*543T>G (n.*543T>G) c.545T>G (p.Val182Gly) n.1031T>G c.548T>G (p.Val183Gly) c.542T>G (p.Val181Gly) c.494T>G (p.Val165Gly) | |
7 | g.44150003A>G | CA367401607 | GCK | c.*543T>C (n.*543T>C) c.545T>C (p.Val182Ala) n.1031T>C c.548T>C (p.Val183Ala) c.542T>C (p.Val181Ala) c.494T>C (p.Val165Ala) | |
7 | g.44150003A>T | CA367401609 | GCK | c.*543T>A (n.*543T>A) c.545T>A (p.Val182Glu) n.1031T>A c.548T>A (p.Val183Glu) c.542T>A (p.Val181Glu) c.494T>A (p.Val165Glu) | |
7 | g.44150004C>A | CA367401612 | GCK | c.*542G>T (n.*542G>T) c.544G>T (p.Val182Leu) n.1030G>T c.547G>T (p.Val183Leu) c.541G>T (p.Val181Leu) c.493G>T (p.Val165Leu) | |
7 | g.44150004C= | CA1703635975 | GCK | c.*542G= (n.*542G=) c.544G= (p.Val182=) n.1030G= c.547G= (p.Val183=) c.541G= (p.Val181=) c.493G= (p.Val165=) | |
7 | g.44150004C>G | CA367401610 | GCK | c.*542G>C (n.*542G>C) c.544G>C (p.Val182Leu) n.1030G>C c.547G>C (p.Val183Leu) c.541G>C (p.Val181Leu) c.493G>C (p.Val165Leu) | |
7 | g.44150004C>T | CA152954 | GCK | c.*542G>A (n.*542G>A) c.544G>A (p.Val182Met) n.1030G>A c.547G>A (p.Val183Met) c.541G>A (p.Val181Met) c.493G>A (p.Val165Met) | ClinVar dbSNP gnomAD v4 |
7 | g.44150005G>A | CA4239609 | GCK | c.*541C>T (n.*541C>T) c.543C>T (p.Val181=) n.1029C>T c.546C>T (p.Val182=) c.540C>T (p.Val180=) c.492C>T (p.Val164=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
7 | g.44150005G>C | CA454609463 | GCK | c.*541C>G (n.*541C>G) c.543C>G (p.Val181=) n.1029C>G c.546C>G (p.Val182=) c.540C>G (p.Val180=) c.492C>G (p.Val164=) | COSMIC COSMIC |
7 | g.44150005G= | CA1703635976 | GCK | c.*541C= (n.*541C=) c.543C= (p.Val181=) n.1029C= c.546C= (p.Val182=) c.540C= (p.Val180=) c.492C= (p.Val164=) | |
7 | g.44150005G>T | CA454609464 | GCK | c.*541C>A (n.*541C>A) c.543C>A (p.Val181=) n.1029C>A c.546C>A (p.Val182=) c.540C>A (p.Val180=) c.492C>A (p.Val164=) | |
7 | g.44150006A= | CA1703635977 | GCK | c.*540T= (n.*540T=) c.542T= (p.Val181=) n.1028T= c.545T= (p.Val182=) c.539T= (p.Val180=) c.491T= (p.Val164=) | |
7 | g.44150006A>C | CA367401614 | GCK | c.*540T>G (n.*540T>G) c.542T>G (p.Val181Gly) n.1028T>G c.545T>G (p.Val182Gly) c.539T>G (p.Val180Gly) c.491T>G (p.Val164Gly) | |
7 | g.44150006A>G | CA213800 | GCK | c.*540T>C (n.*540T>C) c.542T>C (p.Val181Ala) n.1028T>C c.545T>C (p.Val182Ala) c.539T>C (p.Val180Ala) c.491T>C (p.Val164Ala) | ClinVar dbSNP |
7 | g.44150006A>T | CA367401616 | GCK | c.*540T>A (n.*540T>A) c.542T>A (p.Val181Asp) n.1028T>A c.545T>A (p.Val182Asp) c.539T>A (p.Val180Asp) c.491T>A (p.Val164Asp) | |
7 | g.44150007C>A | CA367401618 | GCK | c.*539G>T (n.*539G>T) c.541G>T (p.Val181Phe) n.1027G>T c.544G>T (p.Val182Phe) c.538G>T (p.Val180Phe) c.490G>T (p.Val164Phe) | |
7 | g.44150007C>G | CA367401619 | GCK | c.*539G>C (n.*539G>C) c.541G>C (p.Val181Leu) n.1027G>C c.544G>C (p.Val182Leu) c.538G>C (p.Val180Leu) c.490G>C (p.Val164Leu) | |
7 | g.44150007C>T | CA367401621 | GCK | c.*539G>A (n.*539G>A) c.541G>A (p.Val181Ile) n.1027G>A c.544G>A (p.Val182Ile) c.538G>A (p.Val180Ile) c.490G>A (p.Val164Ile) | |
7 | g.44150008del | CA2695202940 | GCK | c.*538del (n.*538del) c.540del (p.Asn180LysfsTer24) n.1026del c.543del (p.Asn181LysfsTer24) c.537del (p.Asn179LysfsTer24) c.489del (p.Asn163LysfsTer24) | |
7 | g.44150008A= | CA1703635978 | GCK | c.*538T= (n.*538T=) c.540T= (p.Asn180=) n.1026T= c.543T= (p.Asn181=) c.537T= (p.Asn179=) c.489T= (p.Asn163=) | |
7 | g.44150008A>C | CA367401623 | GCK | c.*538T>G (n.*538T>G) c.540T>G (p.Asn180Lys) n.1026T>G c.543T>G (p.Asn181Lys) c.537T>G (p.Asn179Lys) c.489T>G (p.Asn163Lys) | ClinVar dbSNP gnomAD v4 |
7 | g.44150008A>G | CA454609470 | GCK | c.*538T>C (n.*538T>C) c.540T>C (p.Asn180=) n.1026T>C c.543T>C (p.Asn181=) c.537T>C (p.Asn179=) c.489T>C (p.Asn163=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44150008A>T | CA367401624 | GCK | c.*538T>A (n.*538T>A) c.540T>A (p.Asn180Lys) n.1026T>A c.543T>A (p.Asn181Lys) c.537T>A (p.Asn179Lys) c.489T>A (p.Asn163Lys) | |
7 | g.44150009T>A | CA367401625 | GCK | c.*537A>T (n.*537A>T) c.539A>T (p.Asn180Ile) n.1025A>T c.542A>T (p.Asn181Ile) c.536A>T (p.Asn179Ile) c.488A>T (p.Asn163Ile) | |
7 | g.44150009T>C | CA367401627 | GCK | c.*537A>G (n.*537A>G) c.539A>G (p.Asn180Ser) n.1025A>G c.542A>G (p.Asn181Ser) c.536A>G (p.Asn179Ser) c.488A>G (p.Asn163Ser) | ClinVar |
7 | g.44150009T>G | CA367401628 | GCK | c.*537A>C (n.*537A>C) c.539A>C (p.Asn180Thr) n.1025A>C c.542A>C (p.Asn181Thr) c.536A>C (p.Asn179Thr) c.488A>C (p.Asn163Thr) | |
7 | g.44150010T>A | CA367401632 | GCK | c.*536A>T (n.*536A>T) c.538A>T (p.Asn180Tyr) n.1024A>T c.541A>T (p.Asn181Tyr) c.535A>T (p.Asn179Tyr) c.487A>T (p.Asn163Tyr) | |
7 | g.44150010T>C | CA367401633 | GCK | c.*536A>G (n.*536A>G) c.538A>G (p.Asn180Asp) n.1024A>G c.541A>G (p.Asn181Asp) c.535A>G (p.Asn179Asp) c.487A>G (p.Asn163Asp) | |
7 | g.44150010T>G | CA367401630 | GCK | c.*536A>C (n.*536A>C) c.538A>C (p.Asn180His) n.1024A>C c.541A>C (p.Asn181His) c.535A>C (p.Asn179His) c.487A>C (p.Asn163His) | |
7 | g.44150011G>A | CA454609473 | GCK | c.*535C>T (n.*535C>T) c.537C>T (p.Asn179=) n.1023C>T c.540C>T (p.Asn180=) c.534C>T (p.Asn178=) c.486C>T (p.Asn162=) | |
7 | g.44150011G>C | CA367401635 | GCK | c.*535C>G (n.*535C>G) c.537C>G (p.Asn179Lys) n.1023C>G c.540C>G (p.Asn180Lys) c.534C>G (p.Asn178Lys) c.486C>G (p.Asn162Lys) | |
7 | g.44150011G>T | CA367401634 | GCK | c.*535C>A (n.*535C>A) c.537C>A (p.Asn179Lys) n.1023C>A c.540C>A (p.Asn180Lys) c.534C>A (p.Asn178Lys) c.486C>A (p.Asn162Lys) | |
7 | g.44150012T>A | CA367401641 | GCK | c.*534A>T (n.*534A>T) c.536A>T (p.Asn179Ile) n.1022A>T c.539A>T (p.Asn180Ile) c.533A>T (p.Asn178Ile) c.485A>T (p.Asn162Ile) | |
7 | g.44150012T>C | CA367401638 | GCK | c.*534A>G (n.*534A>G) c.536A>G (p.Asn179Ser) n.1022A>G c.539A>G (p.Asn180Ser) c.533A>G (p.Asn178Ser) c.485A>G (p.Asn162Ser) | |
7 | g.44150012T>G | CA367401639 | GCK | c.*534A>C (n.*534A>C) c.536A>C (p.Asn179Thr) n.1022A>C c.539A>C (p.Asn180Thr) c.533A>C (p.Asn178Thr) c.485A>C (p.Asn162Thr) | |
7 | g.44150013_44150020del | CA2695198476 | GCK | c.*527_*534del (n.*527_*534del) c.529_536del (p.Glu177GlnfsTer17) n.1015_1022del c.532_539del (p.Glu178GlnfsTer17) c.526_533del (p.Glu176GlnfsTer17) c.478_485del (p.Glu160GlnfsTer17) | ClinVar |
7 | g.44150013T>A | CA367401643 | GCK | c.*533A>T (n.*533A>T) c.535A>T (p.Asn179Tyr) n.1021A>T c.538A>T (p.Asn180Tyr) c.532A>T (p.Asn178Tyr) c.484A>T (p.Asn162Tyr) | |
7 | g.44150013T>C | CA367401645 | GCK | c.*533A>G (n.*533A>G) c.535A>G (p.Asn179Asp) n.1021A>G c.538A>G (p.Asn180Asp) c.532A>G (p.Asn178Asp) c.484A>G (p.Asn162Asp) | ClinVar |
7 | g.44150013T>G | CA367401647 | GCK | c.*533A>C (n.*533A>C) c.535A>C (p.Asn179His) n.1021A>C c.538A>C (p.Asn180His) c.532A>C (p.Asn178His) c.484A>C (p.Asn162His) | |
7 | g.44150014C>A | CA454609475 | GCK | c.*532G>T (n.*532G>T) c.534G>T (p.Gly178=) n.1020G>T c.537G>T (p.Gly179=) c.531G>T (p.Gly177=) c.483G>T (p.Gly161=) | |
7 | g.44150014C= | CA1703635979 | GCK | c.*532G= (n.*532G=) c.534G= (p.Gly178=) n.1020G= c.537G= (p.Gly179=) c.531G= (p.Gly177=) c.483G= (p.Gly161=) | |
7 | g.44150014C>G | CA454609476 | GCK | c.*532G>C (n.*532G>C) c.534G>C (p.Gly178=) n.1020G>C c.537G>C (p.Gly179=) c.531G>C (p.Gly177=) c.483G>C (p.Gly161=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.44150014C>T | CA4239610 | GCK | c.*532G>A (n.*532G>A) c.534G>A (p.Gly178=) n.1020G>A c.537G>A (p.Gly179=) c.531G>A (p.Gly177=) c.483G>A (p.Gly161=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
7 | g.44150016del | CA2695202941 | GCK | c.*532del (n.*532del) c.534del (p.Asn179ThrfsTer25) n.1020del c.537del (p.Asn180ThrfsTer25) c.531del (p.Asn178ThrfsTer25) c.483del (p.Asn162ThrfsTer25) | |
7 | g.44150015C>A | CA367401649 | GCK | c.*531G>T (n.*531G>T) c.533G>T (p.Gly178Val) n.1019G>T c.536G>T (p.Gly179Val) c.530G>T (p.Gly177Val) c.482G>T (p.Gly161Val) | |
7 | g.44150015C= | CA1703635980 | GCK | c.*531G= (n.*531G=) c.533G= (p.Gly178=) n.1019G= c.536G= (p.Gly179=) c.530G= (p.Gly177=) c.482G= (p.Gly161=) | |
7 | g.44150015C>G | CA367401650 | GCK | c.*531G>C (n.*531G>C) c.533G>C (p.Gly178Ala) n.1019G>C c.536G>C (p.Gly179Ala) c.530G>C (p.Gly177Ala) c.482G>C (p.Gly161Ala) | |
7 | g.44150015C>T | CA10588428 | GCK | c.*531G>A (n.*531G>A) c.533G>A (p.Gly178Glu) n.1019G>A c.536G>A (p.Gly179Glu) c.530G>A (p.Gly177Glu) c.482G>A (p.Gly161Glu) | ClinVar dbSNP COSMIC |
7 | g.44150016C>A | CA367401652 | GCK | c.*530G>T (n.*530G>T) c.532G>T (p.Gly178Trp) n.1018G>T c.535G>T (p.Gly179Trp) c.529G>T (p.Gly177Trp) c.481G>T (p.Gly161Trp) | |
7 | g.44150016C= | CA1703635981 | GCK | c.*530G= (n.*530G=) c.532G= (p.Gly178=) n.1018G= c.535G= (p.Gly179=) c.529G= (p.Gly177=) c.481G= (p.Gly161=) | |
7 | g.44150016C>G | CA367401653 | GCK | c.*530G>C (n.*530G>C) c.532G>C (p.Gly178Arg) n.1018G>C c.535G>C (p.Gly179Arg) c.529G>C (p.Gly177Arg) c.481G>C (p.Gly161Arg) | |
7 | g.44150016C>T | CA213798 | GCK | c.*530G>A (n.*530G>A) c.532G>A (p.Gly178Arg) n.1018G>A c.535G>A (p.Gly179Arg) c.529G>A (p.Gly177Arg) c.481G>A (p.Gly161Arg) | ClinVar dbSNP gnomAD v4 |
7 | g.44150017T>A | CA367401656 | GCK | c.*529A>T (n.*529A>T) c.531A>T (p.Glu177Asp) n.1017A>T c.534A>T (p.Glu178Asp) c.528A>T (p.Glu176Asp) c.480A>T (p.Glu160Asp) | |
7 | g.44150017T>C | CA454609480 | GCK | c.*529A>G (n.*529A>G) c.531A>G (p.Glu177=) n.1017A>G c.534A>G (p.Glu178=) c.528A>G (p.Glu176=) c.480A>G (p.Glu160=) | |
7 | g.44150017T>G | CA367401655 | GCK | c.*529A>C (n.*529A>C) c.531A>C (p.Glu177Asp) n.1017A>C c.534A>C (p.Glu178Asp) c.528A>C (p.Glu176Asp) c.480A>C (p.Glu160Asp) | ClinVar |
7 | g.44150018T>A | CA367401658 | GCK | c.*528A>T (n.*528A>T) c.530A>T (p.Glu177Val) n.1016A>T c.533A>T (p.Glu178Val) c.527A>T (p.Glu176Val) c.479A>T (p.Glu160Val) | |
7 | g.44150018T>C | CA367401662 | GCK | c.*528A>G (n.*528A>G) c.530A>G (p.Glu177Gly) n.1016A>G c.533A>G (p.Glu178Gly) c.527A>G (p.Glu176Gly) c.479A>G (p.Glu160Gly) | |
7 | g.44150018T>G | CA367401664 | GCK | c.*528A>C (n.*528A>C) c.530A>C (p.Glu177Ala) n.1016A>C c.533A>C (p.Glu178Ala) c.527A>C (p.Glu176Ala) c.479A>C (p.Glu160Ala) | |
7 | g.44150018_44150019delinsAA | CA1139660058 | GCK | c.*527_*528delinsTT (n.*527_*528delinsTT) c.529_530delinsTT (p.Glu177Leu) n.1015_1016delinsTT c.532_533delinsTT (p.Glu178Leu) c.526_527delinsTT (p.Glu176Leu) c.478_479delinsTT (p.Glu160Leu) | ClinVar dbSNP |
7 | g.44150018_44150019delinsTC | CA1703635982 | GCK | c.*527_*528delinsGA (n.*527_*528delinsGA) c.529_530delinsGA (p.Glu177=) n.1015_1016delinsGA c.532_533delinsGA (p.Glu178=) c.526_527delinsGA (p.Glu176=) c.478_479delinsGA (p.Glu160=) | |
7 | g.44150019C>A | CA367401665 | GCK | c.*527G>T (n.*527G>T) c.529G>T (p.Glu177Ter) n.1015G>T c.532G>T (p.Glu178Ter) c.526G>T (p.Glu176Ter) c.478G>T (p.Glu160Ter) | |
7 | g.44150019C>G | CA367401666 | GCK | c.*527G>C (n.*527G>C) c.529G>C (p.Glu177Gln) n.1015G>C c.532G>C (p.Glu178Gln) c.526G>C (p.Glu176Gln) c.478G>C (p.Glu160Gln) | |
7 | g.44150019C>T | CA367401668 | GCK | c.*527G>A (n.*527G>A) c.529G>A (p.Glu177Lys) n.1015G>A c.532G>A (p.Glu178Lys) c.526G>A (p.Glu176Lys) c.478G>A (p.Glu160Lys) | |
7 | g.44150020T>A | CA454609484 | GCK | c.*526A>T (n.*526A>T) c.528A>T (p.Ala176=) n.1014A>T c.531A>T (p.Ala177=) c.525A>T (p.Ala175=) c.477A>T (p.Ala159=) | |
7 | g.44150020T>C | CA454609485 | GCK | c.*526A>G (n.*526A>G) c.528A>G (p.Ala176=) n.1014A>G c.531A>G (p.Ala177=) c.525A>G (p.Ala175=) c.477A>G (p.Ala159=) | |
7 | g.44150020T>G | CA454609486 | GCK | c.*526A>C (n.*526A>C) c.528A>C (p.Ala176=) n.1014A>C c.531A>C (p.Ala177=) c.525A>C (p.Ala175=) c.477A>C (p.Ala159=) | gnomAD v4 |
7 | g.44150021del | CA2695202942 | GCK | c.*525del (n.*525del) c.527del (p.Ala176GlufsTer28) n.1013del c.530del (p.Ala177GlufsTer28) c.524del (p.Ala175GlufsTer28) c.476del (p.Ala159GlufsTer28) | |
7 | g.44150021G>A | CA367401670 | GCK | c.*525C>T (n.*525C>T) c.527C>T (p.Ala176Val) n.1013C>T c.530C>T (p.Ala177Val) c.524C>T (p.Ala175Val) c.476C>T (p.Ala159Val) | |
7 | g.44150021G>C | CA213796 | GCK | c.*525C>G (n.*525C>G) c.527C>G (p.Ala176Gly) n.1013C>G c.530C>G (p.Ala177Gly) c.524C>G (p.Ala175Gly) c.476C>G (p.Ala159Gly) | ClinVar dbSNP |
7 | g.44150021G= | CA1703635983 | GCK | c.*525C= (n.*525C=) c.527C= (p.Ala176=) n.1013C= c.530C= (p.Ala177=) c.524C= (p.Ala175=) c.476C= (p.Ala159=) | |
7 | g.44150021G>T | CA367401673 | GCK | c.*525C>A (n.*525C>A) c.527C>A (p.Ala176Glu) n.1013C>A c.530C>A (p.Ala177Glu) c.524C>A (p.Ala175Glu) c.476C>A (p.Ala159Glu) | ClinVar dbSNP gnomAD v4 |
7 | g.44150022C>A | CA367401675 | GCK | c.*524G>T (n.*524G>T) c.526G>T (p.Ala176Ser) n.1012G>T c.529G>T (p.Ala177Ser) c.523G>T (p.Ala175Ser) c.475G>T (p.Ala159Ser) | |
7 | g.44150022C= | CA1703635984 | GCK | c.*524G= (n.*524G=) c.526G= (p.Ala176=) n.1012G= c.529G= (p.Ala177=) c.523G= (p.Ala175=) c.475G= (p.Ala159=) | |
7 | g.44150022C>G | CA367401676 | GCK | c.*524G>C (n.*524G>C) c.526G>C (p.Ala176Pro) n.1012G>C c.529G>C (p.Ala177Pro) c.523G>C (p.Ala175Pro) c.475G>C (p.Ala159Pro) | |
7 | g.44150022C>T | CA367401678 | GCK | c.*524G>A (n.*524G>A) c.526G>A (p.Ala176Thr) n.1012G>A c.529G>A (p.Ala177Thr) c.523G>A (p.Ala175Thr) c.475G>A (p.Ala159Thr) | ClinVar dbSNP |
7 | g.44150023T>A | CA454609488 | GCK | c.*523A>T (n.*523A>T) c.525A>T (p.Gly175=) n.1011A>T c.528A>T (p.Gly176=) c.522A>T (p.Gly174=) c.474A>T (p.Gly158=) | |
7 | g.44150023T>C | CA454609489 | GCK | c.*523A>G (n.*523A>G) c.525A>G (p.Gly175=) n.1011A>G c.528A>G (p.Gly176=) c.522A>G (p.Gly174=) c.474A>G (p.Gly158=) | ClinVar |
7 | g.44150023T>G | CA454609490 | GCK | c.*523A>C (n.*523A>C) c.525A>C (p.Gly175=) n.1011A>C c.528A>C (p.Gly176=) c.522A>C (p.Gly174=) c.474A>C (p.Gly158=) | |
7 | g.44150024C>A | CA367401683 | GCK | c.*522G>T (n.*522G>T) c.524G>T (p.Gly175Val) n.1010G>T c.527G>T (p.Gly176Val) c.521G>T (p.Gly174Val) c.473G>T (p.Gly158Val) | ClinVar |
7 | g.44150024C>G | CA367401681 | GCK | c.*522G>C (n.*522G>C) c.524G>C (p.Gly175Ala) n.1010G>C c.527G>C (p.Gly176Ala) c.521G>C (p.Gly174Ala) c.473G>C (p.Gly158Ala) | ClinVar dbSNP |
7 | g.44150024C>T | CA367401680 | GCK | c.*522G>A (n.*522G>A) c.524G>A (p.Gly175Glu) n.1010G>A c.527G>A (p.Gly176Glu) c.521G>A (p.Gly174Glu) c.473G>A (p.Gly158Glu) | ClinVar |
7 | g.44150025C>A | CA367401684 | GCK | c.*521G>T (n.*521G>T) c.523G>T (p.Gly175Ter) n.1009G>T c.526G>T (p.Gly176Ter) c.520G>T (p.Gly174Ter) c.472G>T (p.Gly158Ter) | |
7 | g.44150025C= | CA1703635985 | GCK | c.*521G= (n.*521G=) c.523G= (p.Gly175=) n.1009G= c.526G= (p.Gly176=) c.520G= (p.Gly174=) c.472G= (p.Gly158=) | |
7 | g.44150025C>G | CA367401686 | GCK | c.*521G>C (n.*521G>C) c.523G>C (p.Gly175Arg) n.1009G>C c.526G>C (p.Gly176Arg) c.520G>C (p.Gly174Arg) c.472G>C (p.Gly158Arg) | ClinVar |
7 | g.44150025C>T | CA231137 | GCK | c.*521G>A (n.*521G>A) c.523G>A (p.Gly175Arg) n.1009G>A c.526G>A (p.Gly176Arg) c.520G>A (p.Gly174Arg) c.472G>A (p.Gly158Arg) | ClinVar dbSNP gnomAD v4 |
7 | g.44150026T>A | CA454609491 | GCK | c.*520A>T (n.*520A>T) c.522A>T (p.Ser174=) n.1008A>T c.525A>T (p.Ser175=) c.519A>T (p.Ser173=) c.471A>T (p.Ser157=) | |
7 | g.44150026T>C | CA454609492 | GCK | c.*520A>G (n.*520A>G) c.522A>G (p.Ser174=) n.1008A>G c.525A>G (p.Ser175=) c.519A>G (p.Ser173=) c.471A>G (p.Ser157=) | |
7 | g.44150026T>G | CA454609494 | GCK | c.*520A>C (n.*520A>C) c.522A>C (p.Ser174=) n.1008A>C c.525A>C (p.Ser175=) c.519A>C (p.Ser173=) c.471A>C (p.Ser157=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44150026T= | CA1703635986 | GCK | c.*520A= (n.*520A=) c.522A= (p.Ser174=) n.1008A= c.525A= (p.Ser175=) c.519A= (p.Ser173=) c.471A= (p.Ser157=) | |
7 | g.44150027G>A | CA367401688 | GCK | c.*519C>T (n.*519C>T) c.521C>T (p.Ser174Leu) n.1007C>T c.524C>T (p.Ser175Leu) c.518C>T (p.Ser173Leu) c.470C>T (p.Ser157Leu) | ClinVar |
7 | g.44150027G>C | CA367401690 | GCK | c.*519C>G (n.*519C>G) c.521C>G (p.Ser174Ter) n.1007C>G c.524C>G (p.Ser175Ter) c.518C>G (p.Ser173Ter) c.470C>G (p.Ser157Ter) | |
7 | g.44150027G>T | CA367401691 | GCK | c.*519C>A (n.*519C>A) c.521C>A (p.Ser174Ter) n.1007C>A c.524C>A (p.Ser175Ter) c.518C>A (p.Ser173Ter) c.470C>A (p.Ser157Ter) | |
7 | g.44150028A>C | CA367401692 | GCK | c.*518T>G (n.*518T>G) c.520T>G (p.Ser174Ala) n.1006T>G c.523T>G (p.Ser175Ala) c.517T>G (p.Ser173Ala) c.469T>G (p.Ser157Ala) | |
7 | g.44150028A>G | CA367401693 | GCK | c.*518T>C (n.*518T>C) c.520T>C (p.Ser174Pro) n.1006T>C c.523T>C (p.Ser175Pro) c.517T>C (p.Ser173Pro) c.469T>C (p.Ser157Pro) | |
7 | g.44150028A>T | CA367401695 | GCK | c.*518T>A (n.*518T>A) c.520T>A (p.Ser174Thr) n.1006T>A c.523T>A (p.Ser175Thr) c.517T>A (p.Ser173Thr) c.469T>A (p.Ser157Thr) | |
7 | g.44150028_44150029delinsAG | CA1703635987 | GCK | c.*517_*518delinsCT (n.*517_*518delinsCT) c.519_520delinsCT (p.Ala173=) n.1005_1006delinsCT c.522_523delinsCT (p.Ala174=) c.516_517delinsCT (p.Ala172=) c.468_469delinsCT (p.Ala156=) | |
7 | g.44150028_44150031del | CA2695202943 | GCK | c.*515_*518del (n.*515_*518del) c.517_520del (p.Ala173GlnfsTer30) n.1003_1006del c.520_523del (p.Ala174GlnfsTer30) c.514_517del (p.Ala172GlnfsTer30) c.466_469del (p.Ala156GlnfsTer30) | |
7 | g.44150029G>A | CA454609499 | GCK | c.*517C>T (n.*517C>T) c.519C>T (p.Ala173=) n.1005C>T c.522C>T (p.Ala174=) c.516C>T (p.Ala172=) c.468C>T (p.Ala156=) | |
7 | g.44150029G>C | CA454609500 | GCK | c.*517C>G (n.*517C>G) c.519C>G (p.Ala173=) n.1005C>G c.522C>G (p.Ala174=) c.516C>G (p.Ala172=) c.468C>G (p.Ala156=) | |
7 | g.44150029G>T | CA454609503 | GCK | c.*517C>A (n.*517C>A) c.519C>A (p.Ala173=) n.1005C>A c.522C>A (p.Ala174=) c.516C>A (p.Ala172=) c.468C>A (p.Ala156=) | |
7 | g.44150030del | CA157917551 | GCK | c.*517del (n.*517del) c.519del (p.Ser174GlnfsTer?) n.1005del c.522del (p.Ser175GlnfsTer?) c.516del (p.Ser173GlnfsTer?) c.468del (p.Ser157GlnfsTer?) | dbSNP |
7 | g.44150030G>A | CA4239611 | GCK | c.*516C>T (n.*516C>T) c.518C>T (p.Ala173Val) n.1004C>T c.521C>T (p.Ala174Val) c.515C>T (p.Ala172Val) c.467C>T (p.Ala156Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44150030G>C | CA367401697 | GCK | c.*516C>G (n.*516C>G) c.518C>G (p.Ala173Gly) n.1004C>G c.521C>G (p.Ala174Gly) c.515C>G (p.Ala172Gly) c.467C>G (p.Ala156Gly) | |
7 | g.44150030G= | CA1703635988 | GCK | c.*516C= (n.*516C=) c.518C= (p.Ala173=) n.1004C= c.521C= (p.Ala174=) c.515C= (p.Ala172=) c.467C= (p.Ala156=) | |
7 | g.44150030G>T | CA367401699 | GCK | c.*516C>A (n.*516C>A) c.518C>A (p.Ala173Asp) n.1004C>A c.521C>A (p.Ala174Asp) c.515C>A (p.Ala172Asp) c.467C>A (p.Ala156Asp) | |
7 | g.44150031C>A | CA367401704 | GCK | c.*515G>T (n.*515G>T) c.517G>T (p.Ala173Ser) n.1003G>T c.520G>T (p.Ala174Ser) c.514G>T (p.Ala172Ser) c.466G>T (p.Ala156Ser) | |
7 | g.44150031C>G | CA367401703 | GCK | c.*515G>C (n.*515G>C) c.517G>C (p.Ala173Pro) n.1003G>C c.520G>C (p.Ala174Pro) c.514G>C (p.Ala172Pro) c.466G>C (p.Ala156Pro) | ClinVar dbSNP |
7 | g.44150031C>T | CA367401701 | GCK | c.*515G>A (n.*515G>A) c.517G>A (p.Ala173Thr) n.1003G>A c.520G>A (p.Ala174Thr) c.514G>A (p.Ala172Thr) c.466G>A (p.Ala156Thr) | |
7 | g.44150036_44150044dup | CA2573050986 | GCK | c.*507_*515dup (n.*507_*515dup) c.509_517dup (p.Lys172_Ala173insGlyPheLys) n.995_1003dup c.512_520dup (p.Lys173_Ala174insGlyPheLys) c.506_514dup (p.Lys171_Ala172insGlyPheLys) c.458_466dup (p.Lys155_Ala156insGlyPheLys) | ClinVar |
7 | g.44150032C>A | CA367401705 | GCK | c.*514G>T (n.*514G>T) c.516G>T (p.Lys172Asn) n.1002G>T c.519G>T (p.Lys173Asn) c.513G>T (p.Lys171Asn) c.465G>T (p.Lys155Asn) | |
7 | g.44150032C= | CA1703635989 | GCK | c.*514G= (n.*514G=) c.516G= (p.Lys172=) n.1002G= c.519G= (p.Lys173=) c.513G= (p.Lys171=) c.465G= (p.Lys155=) | |
7 | g.44150032C>G | CA367401707 | GCK | c.*514G>C (n.*514G>C) c.516G>C (p.Lys172Asn) n.1002G>C c.519G>C (p.Lys173Asn) c.513G>C (p.Lys171Asn) c.465G>C (p.Lys155Asn) | |
7 | g.44150032C>T | CA454609506 | GCK | c.*514G>A (n.*514G>A) c.516G>A (p.Lys172=) n.1002G>A c.519G>A (p.Lys173=) c.513G>A (p.Lys171=) c.465G>A (p.Lys155=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44150033T>A | CA367401708 | GCK | c.*513A>T (n.*513A>T) c.515A>T (p.Lys172Met) n.1001A>T c.518A>T (p.Lys173Met) c.512A>T (p.Lys171Met) c.464A>T (p.Lys155Met) | |
7 | g.44150033T>C | CA367401710 | GCK | c.*513A>G (n.*513A>G) c.515A>G (p.Lys172Arg) n.1001A>G c.518A>G (p.Lys173Arg) c.512A>G (p.Lys171Arg) c.464A>G (p.Lys155Arg) | |
7 | g.44150033T>G | CA367401712 | GCK | c.*513A>C (n.*513A>C) c.515A>C (p.Lys172Thr) n.1001A>C c.518A>C (p.Lys173Thr) c.512A>C (p.Lys171Thr) c.464A>C (p.Lys155Thr) | gnomAD v4 |
7 | g.44150034del | CA2695202944 | GCK | c.*513del (n.*513del) c.515del (p.Lys172ArgfsTer?) n.1001del c.518del (p.Lys173ArgfsTer?) c.512del (p.Lys171ArgfsTer?) c.464del (p.Lys155ArgfsTer?) | |
7 | g.44150034T>A | CA367401713 | GCK | c.*512A>T (n.*512A>T) c.514A>T (p.Lys172Ter) n.1000A>T c.517A>T (p.Lys173Ter) c.511A>T (p.Lys171Ter) c.463A>T (p.Lys155Ter) | |
7 | g.44150034T>C | CA367401714 | GCK | c.*512A>G (n.*512A>G) c.514A>G (p.Lys172Glu) n.1000A>G c.517A>G (p.Lys173Glu) c.511A>G (p.Lys171Glu) c.463A>G (p.Lys155Glu) | |
7 | g.44150034T>G | CA367401716 | GCK | c.*512A>C (n.*512A>C) c.514A>C (p.Lys172Gln) n.1000A>C c.517A>C (p.Lys173Gln) c.511A>C (p.Lys171Gln) c.463A>C (p.Lys155Gln) | |
7 | g.44150035G>A | CA454609512 | GCK | c.*511C>T (n.*511C>T) c.513C>T (p.Phe171=) n.999C>T c.516C>T (p.Phe172=) c.510C>T (p.Phe170=) c.462C>T (p.Phe154=) | |
7 | g.44150035G>C | CA367401718 | GCK | c.*511C>G (n.*511C>G) c.513C>G (p.Phe171Leu) n.999C>G c.516C>G (p.Phe172Leu) c.510C>G (p.Phe170Leu) c.462C>G (p.Phe154Leu) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.44150035G= | CA1703635990 | GCK | c.*511C= (n.*511C=) c.513C= (p.Phe171=) n.999C= c.516C= (p.Phe172=) c.510C= (p.Phe170=) c.462C= (p.Phe154=) | |
7 | g.44150035G>T | CA367401719 | GCK | c.*511C>A (n.*511C>A) c.513C>A (p.Phe171Leu) n.999C>A c.516C>A (p.Phe172Leu) c.510C>A (p.Phe170Leu) c.462C>A (p.Phe154Leu) | |
7 | g.44150036A>C | CA367401720 | GCK | c.*510T>G (n.*510T>G) c.512T>G (p.Phe171Cys) n.998T>G c.515T>G (p.Phe172Cys) c.509T>G (p.Phe170Cys) c.461T>G (p.Phe154Cys) | |
7 | g.44150036A>G | CA367401721 | GCK | c.*510T>C (n.*510T>C) c.512T>C (p.Phe171Ser) n.998T>C c.515T>C (p.Phe172Ser) c.509T>C (p.Phe170Ser) c.461T>C (p.Phe154Ser) | |
7 | g.44150036A>T | CA367401722 | GCK | c.*510T>A (n.*510T>A) c.512T>A (p.Phe171Tyr) n.998T>A c.515T>A (p.Phe172Tyr) c.509T>A (p.Phe170Tyr) c.461T>A (p.Phe154Tyr) | |
7 | g.44150037dup | CA1139770886 | GCK | c.*510dup (n.*510dup) c.512dup (p.Lys172GlnfsTer25) n.998dup c.515dup (p.Lys173GlnfsTer25) c.509dup (p.Lys171GlnfsTer25) c.461dup (p.Lys155GlnfsTer25) | |
7 | g.44150037A>C | CA367401725 | GCK | c.*509T>G (n.*509T>G) c.511T>G (p.Phe171Val) n.997T>G c.514T>G (p.Phe172Val) c.508T>G (p.Phe170Val) c.460T>G (p.Phe154Val) | ClinVar dbSNP |
7 | g.44150037A>G | CA367401724 | GCK | c.*509T>C (n.*509T>C) c.511T>C (p.Phe171Leu) n.997T>C c.514T>C (p.Phe172Leu) c.508T>C (p.Phe170Leu) c.460T>C (p.Phe154Leu) | |
7 | g.44150037A>T | CA367401723 | GCK | c.*509T>A (n.*509T>A) c.511T>A (p.Phe171Ile) n.997T>A c.514T>A (p.Phe172Ile) c.508T>A (p.Phe170Ile) c.460T>A (p.Phe154Ile) | |
7 | g.44150038G>A | CA454609518 | GCK | c.*508C>T (n.*508C>T) c.510C>T (p.Gly170=) n.996C>T c.513C>T (p.Gly171=) c.507C>T (p.Gly169=) c.459C>T (p.Gly153=) | |
7 | g.44150038G>C | CA454609520 | GCK | c.*508C>G (n.*508C>G) c.510C>G (p.Gly170=) n.996C>G c.513C>G (p.Gly171=) c.507C>G (p.Gly169=) c.459C>G (p.Gly153=) | |
7 | g.44150038G>T | CA454609519 | GCK | c.*508C>A (n.*508C>A) c.510C>A (p.Gly170=) n.996C>A c.513C>A (p.Gly171=) c.507C>A (p.Gly169=) c.459C>A (p.Gly153=) | |
7 | g.44150039C>A | CA213794 | GCK | c.*507G>T (n.*507G>T) c.509G>T (p.Gly170Val) n.995G>T c.512G>T (p.Gly171Val) c.506G>T (p.Gly169Val) c.458G>T (p.Gly153Val) | ClinVar dbSNP |
7 | g.44150039C= | CA1703635991 | GCK | c.*507G= (n.*507G=) c.509G= (p.Gly170=) n.995G= c.512G= (p.Gly171=) c.506G= (p.Gly169=) c.458G= (p.Gly153=) | |
7 | g.44150039C>G | CA367401727 | GCK | c.*507G>C (n.*507G>C) c.509G>C (p.Gly170Ala) n.995G>C c.512G>C (p.Gly171Ala) c.506G>C (p.Gly169Ala) c.458G>C (p.Gly153Ala) | |
7 | g.44150039C>T | CA367401729 | GCK | c.*507G>A (n.*507G>A) c.509G>A (p.Gly170Asp) n.995G>A c.512G>A (p.Gly171Asp) c.506G>A (p.Gly169Asp) c.458G>A (p.Gly153Asp) | |
7 | g.44150040C>A | CA367401731 | GCK | c.*506G>T (n.*506G>T) c.508G>T (p.Gly170Cys) n.994G>T c.511G>T (p.Gly171Cys) c.505G>T (p.Gly169Cys) c.457G>T (p.Gly153Cys) | |
7 | g.44150040C= | CA1703635992 | GCK | c.*506G= (n.*506G=) c.508G= (p.Gly170=) n.994G= c.511G= (p.Gly171=) c.505G= (p.Gly169=) c.457G= (p.Gly153=) | |
7 | g.44150040C>G | CA367401733 | GCK | c.*506G>C (n.*506G>C) c.508G>C (p.Gly170Arg) n.994G>C c.511G>C (p.Gly171Arg) c.505G>C (p.Gly169Arg) c.457G>C (p.Gly153Arg) | |
7 | g.44150040C>T | CA157917557 | GCK | c.*506G>A (n.*506G>A) c.508G>A (p.Gly170Ser) n.994G>A c.511G>A (p.Gly171Ser) c.505G>A (p.Gly169Ser) c.457G>A (p.Gly153Ser) | dbSNP COSMIC COSMIC COSMIC |
7 | g.44150041C>A | CA367401734 | GCK | c.*505G>T (n.*505G>T) c.507G>T (p.Lys169Asn) n.993G>T c.510G>T (p.Lys170Asn) c.504G>T (p.Lys168Asn) c.456G>T (p.Lys152Asn) | |
7 | g.44150041C>G | CA367401735 | GCK | c.*505G>C (n.*505G>C) c.507G>C (p.Lys169Asn) n.993G>C c.510G>C (p.Lys170Asn) c.504G>C (p.Lys168Asn) c.456G>C (p.Lys152Asn) | COSMIC COSMIC COSMIC |
7 | g.44150041C>T | CA454609528 | GCK | c.*505G>A (n.*505G>A) c.507G>A (p.Lys169=) n.993G>A c.510G>A (p.Lys170=) c.504G>A (p.Lys168=) c.456G>A (p.Lys152=) | |
7 | g.44150042T>A | CA367401737 | GCK | c.*504A>T (n.*504A>T) c.506A>T (p.Lys169Met) n.992A>T c.509A>T (p.Lys170Met) c.503A>T (p.Lys168Met) c.455A>T (p.Lys152Met) | |
7 | g.44150042T>C | CA367401738 | GCK | c.*504A>G (n.*504A>G) c.506A>G (p.Lys169Arg) n.992A>G c.509A>G (p.Lys170Arg) c.503A>G (p.Lys168Arg) c.455A>G (p.Lys152Arg) | |
7 | g.44150042T>G | CA367401740 | GCK | c.*504A>C (n.*504A>C) c.506A>C (p.Lys169Thr) n.992A>C c.509A>C (p.Lys170Thr) c.503A>C (p.Lys168Thr) c.455A>C (p.Lys152Thr) | |
7 | g.44150043dup | CA2842717614 | GCK | c.*504dup (n.*504dup) c.506dup (p.Phe171LeufsTer26) n.992dup c.509dup (p.Phe172LeufsTer26) c.503dup (p.Phe170LeufsTer26) c.455dup (p.Phe154LeufsTer26) | |
7 | g.44150043T>A | CA367401742 | GCK | c.*503A>T (n.*503A>T) c.505A>T (p.Lys169Ter) n.991A>T c.508A>T (p.Lys170Ter) c.502A>T (p.Lys168Ter) c.454A>T (p.Lys152Ter) | |
7 | g.44150043T>C | CA367401743 | GCK | c.*503A>G (n.*503A>G) c.505A>G (p.Lys169Glu) n.991A>G c.508A>G (p.Lys170Glu) c.502A>G (p.Lys168Glu) c.454A>G (p.Lys152Glu) | |
7 | g.44150043T>G | CA367401745 | GCK | c.*503A>C (n.*503A>C) c.505A>C (p.Lys169Gln) n.991A>C c.508A>C (p.Lys170Gln) c.502A>C (p.Lys168Gln) c.454A>C (p.Lys152Gln) | |
7 | g.44150044G>A | CA454609532 | GCK | c.*502C>T (n.*502C>T) c.504C>T (p.Thr168=) n.990C>T c.507C>T (p.Thr169=) c.501C>T (p.Thr167=) c.453C>T (p.Thr151=) | |
7 | g.44150044G>C | CA454609533 | GCK | c.*502C>G (n.*502C>G) c.504C>G (p.Thr168=) n.990C>G c.507C>G (p.Thr169=) c.501C>G (p.Thr167=) c.453C>G (p.Thr151=) | |
7 | g.44150044G>T | CA454609537 | GCK | c.*502C>A (n.*502C>A) c.504C>A (p.Thr168=) n.990C>A c.507C>A (p.Thr169=) c.501C>A (p.Thr167=) c.453C>A (p.Thr151=) | |
7 | g.44150045del | CA2695202945 | GCK | c.*502del (n.*502del) c.504del (p.Lys169ArgfsTer?) n.990del c.507del (p.Lys170ArgfsTer?) c.501del (p.Lys168ArgfsTer?) c.453del (p.Lys152ArgfsTer?) | |
7 | g.44150045G>A | CA367401750 | GCK | c.*501C>T (n.*501C>T) c.503C>T (p.Thr168Ile) n.989C>T c.506C>T (p.Thr169Ile) c.500C>T (p.Thr167Ile) c.452C>T (p.Thr151Ile) | ClinVar dbSNP |
7 | g.44150045G>C | CA367401749 | GCK | c.*501C>G (n.*501C>G) c.503C>G (p.Thr168Ser) n.989C>G c.506C>G (p.Thr169Ser) c.500C>G (p.Thr167Ser) c.452C>G (p.Thr151Ser) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.44150045G= | CA1703635993 | GCK | c.*501C= (n.*501C=) c.503C= (p.Thr168=) n.989C= c.506C= (p.Thr169=) c.500C= (p.Thr167=) c.452C= (p.Thr151=) | |
7 | g.44150045G>T | CA367401747 | GCK | c.*501C>A (n.*501C>A) c.503C>A (p.Thr168Asn) n.989C>A c.506C>A (p.Thr169Asn) c.500C>A (p.Thr167Asn) c.452C>A (p.Thr151Asn) | ClinVar |
7 | g.44150046T>A | CA367401752 | GCK | c.*500A>T (n.*500A>T) c.502A>T (p.Thr168Ser) n.988A>T c.505A>T (p.Thr169Ser) c.499A>T (p.Thr167Ser) c.451A>T (p.Thr151Ser) | |
7 | g.44150046T>C | CA367401753 | GCK | c.*500A>G (n.*500A>G) c.502A>G (p.Thr168Ala) n.988A>G c.505A>G (p.Thr169Ala) c.499A>G (p.Thr167Ala) c.451A>G (p.Thr151Ala) | ClinVar |
7 | g.44150046T>G | CA367401755 | GCK | c.*500A>C (n.*500A>C) c.502A>C (p.Thr168Pro) n.988A>C c.505A>C (p.Thr169Pro) c.499A>C (p.Thr167Pro) c.451A>C (p.Thr151Pro) | ClinVar |
7 | g.44150047C>A | CA367401757 | GCK | c.*499G>T (n.*499G>T) c.501G>T (p.Trp167Cys) n.987G>T c.504G>T (p.Trp168Cys) c.498G>T (p.Trp166Cys) c.450G>T (p.Trp150Cys) | ClinVar dbSNP |
7 | g.44150047C= | CA1703635994 | GCK | c.*499G= (n.*499G=) c.501G= (p.Trp167=) n.987G= c.504G= (p.Trp168=) c.498G= (p.Trp166=) c.450G= (p.Trp150=) | |
7 | g.44150047C>G | CA367401759 | GCK | c.*499G>C (n.*499G>C) c.501G>C (p.Trp167Cys) n.987G>C c.504G>C (p.Trp168Cys) c.498G>C (p.Trp166Cys) c.450G>C (p.Trp150Cys) | ClinVar dbSNP |
7 | g.44150047C>T | CA367401760 | GCK | c.*499G>A (n.*499G>A) c.501G>A (p.Trp167Ter) n.987G>A c.504G>A (p.Trp168Ter) c.498G>A (p.Trp166Ter) c.450G>A (p.Trp150Ter) | ClinVar dbSNP gnomAD v2 |
7 | g.44150048C>A | CA367401762 | GCK | c.*498G>T (n.*498G>T) c.500G>T (p.Trp167Leu) n.986G>T c.503G>T (p.Trp168Leu) c.497G>T (p.Trp166Leu) c.449G>T (p.Trp150Leu) | |
7 | g.44150048C>G | CA367401763 | GCK | c.*498G>C (n.*498G>C) c.500G>C (p.Trp167Ser) n.986G>C c.503G>C (p.Trp168Ser) c.497G>C (p.Trp166Ser) c.449G>C (p.Trp150Ser) | |
7 | g.44150048C>T | CA367401765 | GCK | c.*498G>A (n.*498G>A) c.500G>A (p.Trp167Ter) n.986G>A c.503G>A (p.Trp168Ter) c.497G>A (p.Trp166Ter) c.449G>A (p.Trp150Ter) | |
7 | g.44150049A= | CA1703635995 | GCK | c.*497T= (n.*497T=) c.499T= (p.Trp167=) n.985T= c.502T= (p.Trp168=) c.496T= (p.Trp166=) c.448T= (p.Trp150=) | |
7 | g.44150049A>C | CA367401767 | GCK | c.*497T>G (n.*497T>G) c.499T>G (p.Trp167Gly) n.985T>G c.502T>G (p.Trp168Gly) c.496T>G (p.Trp166Gly) c.448T>G (p.Trp150Gly) | ClinVar dbSNP |
7 | g.44150049A>G | CA367401768 | GCK | c.*497T>C (n.*497T>C) c.499T>C (p.Trp167Arg) n.985T>C c.502T>C (p.Trp168Arg) c.496T>C (p.Trp166Arg) c.448T>C (p.Trp150Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.44150049A>T | CA367401770 | GCK | c.*497T>A (n.*497T>A) c.499T>A (p.Trp167Arg) n.985T>A c.502T>A (p.Trp168Arg) c.496T>A (p.Trp166Arg) c.448T>A (p.Trp150Arg) | |
7 | g.44150050G>A | CA454609546 | GCK | c.*496C>T (n.*496C>T) c.498C>T (p.Asn166=) n.984C>T c.501C>T (p.Asn167=) c.495C>T (p.Asn165=) c.447C>T (p.Asn149=) | |
7 | g.44150050G>C | CA367401771 | GCK | c.*496C>G (n.*496C>G) c.498C>G (p.Asn166Lys) n.984C>G c.501C>G (p.Asn167Lys) c.495C>G (p.Asn165Lys) c.447C>G (p.Asn149Lys) | |
7 | g.44150050G>T | CA367401772 | GCK | c.*496C>A (n.*496C>A) c.498C>A (p.Asn166Lys) n.984C>A c.501C>A (p.Asn167Lys) c.495C>A (p.Asn165Lys) c.447C>A (p.Asn149Lys) | |
7 | g.44150051T>A | CA367401776 | GCK | c.*495A>T (n.*495A>T) c.497A>T (p.Asn166Ile) n.983A>T c.500A>T (p.Asn167Ile) c.494A>T (p.Asn165Ile) c.446A>T (p.Asn149Ile) | |
7 | g.44150051T>C | CA367401777 | GCK | c.*495A>G (n.*495A>G) c.497A>G (p.Asn166Ser) n.983A>G c.500A>G (p.Asn167Ser) c.494A>G (p.Asn165Ser) c.446A>G (p.Asn149Ser) | |
7 | g.44150051T>G | CA367401774 | GCK | c.*495A>C (n.*495A>C) c.497A>C (p.Asn166Thr) n.983A>C c.500A>C (p.Asn167Thr) c.494A>C (p.Asn165Thr) c.446A>C (p.Asn149Thr) | |
7 | g.44150052T>A | CA367401779 | GCK | c.*494A>T (n.*494A>T) c.496A>T (p.Asn166Tyr) n.982A>T c.499A>T (p.Asn167Tyr) c.493A>T (p.Asn165Tyr) c.445A>T (p.Asn149Tyr) | |
7 | g.44150052T>C | CA367401780 | GCK | c.*494A>G (n.*494A>G) c.496A>G (p.Asn166Asp) n.982A>G c.499A>G (p.Asn167Asp) c.493A>G (p.Asn165Asp) c.445A>G (p.Asn149Asp) | |
7 | g.44150052T>G | CA367401782 | GCK | c.*494A>C (n.*494A>C) c.496A>C (p.Asn166His) n.982A>C c.499A>C (p.Asn167His) c.493A>C (p.Asn165His) c.445A>C (p.Asn149His) | |
7 | g.44150053G>A | CA454609552 | GCK | c.*493C>T (n.*493C>T) c.495C>T (p.Leu165=) n.981C>T c.498C>T (p.Leu166=) c.492C>T (p.Leu164=) c.444C>T (p.Leu148=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44150053G>C | CA454609551 | GCK | c.*493C>G (n.*493C>G) c.495C>G (p.Leu165=) n.981C>G c.498C>G (p.Leu166=) c.492C>G (p.Leu164=) c.444C>G (p.Leu148=) | gnomAD v4 |
7 | g.44150053G= | CA1703635996 | GCK | c.*493C= (n.*493C=) c.495C= (p.Leu165=) n.981C= c.498C= (p.Leu166=) c.492C= (p.Leu164=) c.444C= (p.Leu148=) | |
7 | g.44150053G>T | CA454609550 | GCK | c.*493C>A (n.*493C>A) c.495C>A (p.Leu165=) n.981C>A c.498C>A (p.Leu166=) c.492C>A (p.Leu164=) c.444C>A (p.Leu148=) | |
7 | g.44150054A>C | CA367401783 | GCK | c.*492T>G (n.*492T>G) c.494T>G (p.Leu165Arg) n.980T>G c.497T>G (p.Leu166Arg) c.491T>G (p.Leu164Arg) c.443T>G (p.Leu148Arg) | |
7 | g.44150054A>G | CA367401785 | GCK | c.*492T>C (n.*492T>C) c.494T>C (p.Leu165Pro) n.980T>C c.497T>C (p.Leu166Pro) c.491T>C (p.Leu164Pro) c.443T>C (p.Leu148Pro) | |
7 | g.44150054A>T | CA367401787 | GCK | c.*492T>A (n.*492T>A) c.494T>A (p.Leu165His) n.980T>A c.497T>A (p.Leu166His) c.491T>A (p.Leu164His) c.443T>A (p.Leu148His) | |
7 | g.44150056_44150058del | CA2695202947 | GCK | c.*490_*492del (n.*490_*492del) c.492_494del (p.Leu165del) n.978_980del c.495_497del (p.Leu166del) c.489_491del (p.Leu164del) c.441_443del (p.Leu148del) | |
7 | g.44150055G>A | CA367401788 | GCK | c.*491C>T (n.*491C>T) c.493C>T (p.Leu165Phe) n.979C>T c.496C>T (p.Leu166Phe) c.490C>T (p.Leu164Phe) c.442C>T (p.Leu148Phe) | gnomAD v4 |
7 | g.44150055G>C | CA367401789 | GCK | c.*491C>G (n.*491C>G) c.493C>G (p.Leu165Val) n.979C>G c.496C>G (p.Leu166Val) c.490C>G (p.Leu164Val) c.442C>G (p.Leu148Val) | |
7 | g.44150055G>T | CA367401790 | GCK | c.*491C>A (n.*491C>A) c.493C>A (p.Leu165Ile) n.979C>A c.496C>A (p.Leu166Ile) c.490C>A (p.Leu164Ile) c.442C>A (p.Leu148Ile) | |
7 | g.44150056A>C | CA454609554 | GCK | c.*490T>G (n.*490T>G) c.492T>G (p.Leu164=) n.978T>G c.495T>G (p.Leu165=) c.489T>G (p.Leu163=) c.441T>G (p.Leu147=) | |
7 | g.44150056A>G | CA454609555 | GCK | c.*490T>C (n.*490T>C) c.492T>C (p.Leu164=) n.978T>C c.495T>C (p.Leu165=) c.489T>C (p.Leu163=) c.441T>C (p.Leu147=) | |
7 | g.44150056A>T | CA454609557 | GCK | c.*490T>A (n.*490T>A) c.492T>A (p.Leu164=) n.978T>A c.495T>A (p.Leu165=) c.489T>A (p.Leu163=) c.441T>A (p.Leu147=) | |
7 | g.44150057A= | CA1703635997 | GCK | c.*489T= (n.*489T=) c.491T= (p.Leu164=) n.977T= c.494T= (p.Leu165=) c.488T= (p.Leu163=) c.440T= (p.Leu147=) | |
7 | g.44150057A>C | CA367401791 | GCK | c.*489T>G (n.*489T>G) c.491T>G (p.Leu164Arg) n.977T>G c.494T>G (p.Leu165Arg) c.488T>G (p.Leu163Arg) c.440T>G (p.Leu147Arg) | |
7 | g.44150057A>G | CA367401792 | GCK | c.*489T>C (n.*489T>C) c.491T>C (p.Leu164Pro) n.977T>C c.494T>C (p.Leu165Pro) c.488T>C (p.Leu163Pro) c.440T>C (p.Leu147Pro) | ClinVar dbSNP |
7 | g.44150057A>T | CA367401793 | GCK | c.*489T>A (n.*489T>A) c.491T>A (p.Leu164His) n.977T>A c.494T>A (p.Leu165His) c.488T>A (p.Leu163His) c.440T>A (p.Leu147His) | |
7 | g.44150058G>A | CA367401796 | GCK | c.*488C>T (n.*488C>T) c.490C>T (p.Leu164Phe) n.976C>T c.493C>T (p.Leu165Phe) c.487C>T (p.Leu163Phe) c.439C>T (p.Leu147Phe) | dbSNP |
7 | g.44150058G>C | CA367401795 | GCK | c.*488C>G (n.*488C>G) c.490C>G (p.Leu164Val) n.976C>G c.493C>G (p.Leu165Val) c.487C>G (p.Leu163Val) c.439C>G (p.Leu147Val) | |
7 | g.44150058G= | CA1703635998 | GCK | c.*488C= (n.*488C=) c.490C= (p.Leu164=) n.976C= c.493C= (p.Leu165=) c.487C= (p.Leu163=) c.439C= (p.Leu147=) | |
7 | g.44150058G>T | CA367401794 | GCK | c.*488C>A (n.*488C>A) c.490C>A (p.Leu164Ile) n.976C>A c.493C>A (p.Leu165Ile) c.487C>A (p.Leu163Ile) c.439C>A (p.Leu147Ile) | |
7 | g.44150059del | CA2580077187 | GCK | c.*488del (n.*488del) c.490del (p.Leu164PhefsTer?) n.976del c.493del (p.Leu165PhefsTer?) c.487del (p.Leu163PhefsTer?) c.439del (p.Leu147PhefsTer?) | ClinVar |
7 | g.44150059G>A | CA454609560 | GCK | c.*487C>T (n.*487C>T) c.489C>T (p.Ile163=) n.975C>T c.492C>T (p.Ile164=) c.486C>T (p.Ile162=) c.438C>T (p.Ile146=) | |
7 | g.44150059G>C | CA367401797 | GCK | c.*487C>G (n.*487C>G) c.489C>G (p.Ile163Met) n.975C>G c.492C>G (p.Ile164Met) c.486C>G (p.Ile162Met) c.438C>G (p.Ile146Met) | |
7 | g.44150059G>T | CA454609561 | GCK | c.*487C>A (n.*487C>A) c.489C>A (p.Ile163=) n.975C>A c.492C>A (p.Ile164=) c.486C>A (p.Ile162=) c.438C>A (p.Ile146=) | |
7 | g.44150060A>C | CA367401798 | GCK | c.*486T>G (n.*486T>G) c.488T>G (p.Ile163Ser) n.974T>G c.491T>G (p.Ile164Ser) c.485T>G (p.Ile162Ser) c.437T>G (p.Ile146Ser) | |
7 | g.44150060A>G | CA367401799 | GCK | c.*486T>C (n.*486T>C) c.488T>C (p.Ile163Thr) n.974T>C c.491T>C (p.Ile164Thr) c.485T>C (p.Ile162Thr) c.437T>C (p.Ile146Thr) | |
7 | g.44150060A>T | CA367401800 | GCK | c.*486T>A (n.*486T>A) c.488T>A (p.Ile163Asn) n.974T>A c.491T>A (p.Ile164Asn) c.485T>A (p.Ile162Asn) c.437T>A (p.Ile146Asn) | |
7 | g.44150061T>A | CA367401801 | GCK | c.*485A>T (n.*485A>T) c.487A>T (p.Ile163Phe) n.973A>T c.490A>T (p.Ile164Phe) c.484A>T (p.Ile162Phe) c.436A>T (p.Ile146Phe) | |
7 | g.44150061T>C | CA367401802 | GCK | c.*485A>G (n.*485A>G) c.487A>G (p.Ile163Val) n.973A>G c.490A>G (p.Ile164Val) c.484A>G (p.Ile162Val) c.436A>G (p.Ile146Val) | |
7 | g.44150061T>G | CA367401803 | GCK | c.*485A>C (n.*485A>C) c.487A>C (p.Ile163Leu) n.973A>C c.490A>C (p.Ile164Leu) c.484A>C (p.Ile162Leu) c.436A>C (p.Ile146Leu) | |
7 | g.44150062G>A | CA454609565 | GCK | c.*484C>T (n.*484C>T) c.486C>T (p.Gly162=) n.972C>T c.489C>T (p.Gly163=) c.483C>T (p.Gly161=) c.435C>T (p.Gly145=) | |
7 | g.44150062G>C | CA454609567 | GCK | c.*484C>G (n.*484C>G) c.486C>G (p.Gly162=) n.972C>G c.489C>G (p.Gly163=) c.483C>G (p.Gly161=) c.435C>G (p.Gly145=) | |
7 | g.44150062G= | CA1703636000 | GCK | c.*484C= (n.*484C=) c.486C= (p.Gly162=) n.972C= c.489C= (p.Gly163=) c.483C= (p.Gly161=) c.435C= (p.Gly145=) | |
7 | g.44150062G>T | CA454609568 | GCK | c.*484C>A (n.*484C>A) c.486C>A (p.Gly162=) n.972C>A c.489C>A (p.Gly163=) c.483C>A (p.Gly161=) c.435C>A (p.Gly145=) | dbSNP |
7 | g.44150062dup | CA2842717615 | GCK | c.*484dup (n.*484dup) c.486dup (p.Ile163HisfsTer?) n.972dup c.489dup (p.Ile164HisfsTer?) c.483dup (p.Ile162HisfsTer?) c.435dup (p.Ile146HisfsTer?) | |
7 | g.44150062_44150063delinsGC | CA1703635999 | GCK | c.*483_*484delinsGC (n.*483_*484delinsGC) c.485_486delinsGC (p.Gly162=) n.971_972delinsGC c.488_489delinsGC (p.Gly163=) c.482_483delinsGC (p.Gly161=) c.434_435delinsGC (p.Gly145=) | |
7 | g.44150063C>A | CA367401804 | GCK | c.*483G>T (n.*483G>T) c.485G>T (p.Gly162Val) n.971G>T c.488G>T (p.Gly163Val) c.482G>T (p.Gly161Val) c.434G>T (p.Gly145Val) | |
7 | g.44150063C= | CA1703636001 | GCK | c.*483G= (n.*483G=) c.485G= (p.Gly162=) n.971G= c.488G= (p.Gly163=) c.482G= (p.Gly161=) c.434G= (p.Gly145=) | |
7 | g.44150063C>G | CA367401805 | GCK | c.*483G>C (n.*483G>C) c.485G>C (p.Gly162Ala) n.971G>C c.488G>C (p.Gly163Ala) c.482G>C (p.Gly161Ala) c.434G>C (p.Gly145Ala) | |
7 | g.44150063C>T | CA367401806 | GCK | c.*483G>A (n.*483G>A) c.485G>A (p.Gly162Asp) n.971G>A c.488G>A (p.Gly163Asp) c.482G>A (p.Gly161Asp) c.434G>A (p.Gly145Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
7 | g.44150065del | CA658655969 | GCK | c.*483del c.485del n.971del c.488del c.482del c.434del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.44150064C>A | CA367401807 | GCK | c.*482G>T (n.*482G>T) c.484G>T (p.Gly162Cys) n.970G>T c.487G>T (p.Gly163Cys) c.481G>T (p.Gly161Cys) c.433G>T (p.Gly145Cys) | |
7 | g.44150064C>G | CA367401808 | GCK | c.*482G>C (n.*482G>C) c.484G>C (p.Gly162Arg) n.970G>C c.487G>C (p.Gly163Arg) c.481G>C (p.Gly161Arg) c.433G>C (p.Gly145Arg) | |
7 | g.44150064C>T | CA367401809 | GCK | c.*482G>A (n.*482G>A) c.484G>A (p.Gly162Ser) n.970G>A c.487G>A (p.Gly163Ser) c.481G>A (p.Gly161Ser) c.433G>A (p.Gly145Ser) | ClinVar |
7 | g.44150065C>A | CA367401811 | GCK | c.*482-1G>T (n.*482-1G>T) c.484-1G>T (n.484-1G>T) n.970-1G>T c.487-1G>T (n.487-1G>T) c.481-1G>T (n.481-1G>T) c.433-1G>T (n.433-1G>T) | |
7 | g.44150065C>G | CA367401812 | GCK | c.*482-1G>C (n.*482-1G>C) c.484-1G>C (n.484-1G>C) n.970-1G>C c.487-1G>C (n.487-1G>C) c.481-1G>C (n.481-1G>C) c.433-1G>C (n.433-1G>C) | |
7 | g.44150065C>T | CA367401810 | GCK | c.*482-1G>A (n.*482-1G>A) c.484-1G>A (n.484-1G>A) n.970-1G>A c.487-1G>A (n.487-1G>A) c.481-1G>A (n.481-1G>A) c.433-1G>A (n.433-1G>A) | |
7 | g.44150066T>A | CA367401813 | GCK | c.*482-2A>T (n.*482-2A>T) c.484-2A>T (n.484-2A>T) n.970-2A>T c.487-2A>T (n.487-2A>T) c.481-2A>T (n.481-2A>T) c.433-2A>T (n.433-2A>T) | |
7 | g.44150066T>C | CA367401815 | GCK | c.*482-2A>G (n.*482-2A>G) c.484-2A>G (n.484-2A>G) n.970-2A>G c.487-2A>G (n.487-2A>G) c.481-2A>G (n.481-2A>G) c.433-2A>G (n.433-2A>G) | ClinVar |
7 | g.44150066T>G | CA367401814 | GCK | c.*482-2A>C (n.*482-2A>C) c.484-2A>C (n.484-2A>C) n.970-2A>C c.487-2A>C (n.487-2A>C) c.481-2A>C (n.481-2A>C) c.433-2A>C (n.433-2A>C) | |
7 | g.44150067G>T | CA2775231308 | GCK | c.*482-3C>A (n.*482-3C>A) c.484-3C>A (n.484-3C>A) n.970-3C>A c.487-3C>A (n.487-3C>A) c.481-3C>A (n.481-3C>A) c.433-3C>A (n.433-3C>A) | |
7 | g.44150068T>C | CA838781050 | GCK | c.*482-4A>G (n.*482-4A>G) c.484-4A>G (n.484-4A>G) n.970-4A>G c.487-4A>G (n.487-4A>G) c.481-4A>G (n.481-4A>G) c.433-4A>G (n.433-4A>G) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.44150068T= | CA1703636002 | GCK | c.*482-4A= (n.*482-4A=) c.484-4A= (n.484-4A=) n.970-4A= c.487-4A= (n.487-4A=) c.481-4A= (n.481-4A=) c.433-4A= (n.433-4A=) |