UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44145170_44145588del | CA2573142177 | GCK | c.*1163_*1365del c.*285_*487del n.391_593del c.199_401del c.1168_1370del c.1165_1367del c.1228_1430del n.177_379del c.217_419del c.1162_1364del c.1114_1316del n.545_747del c.154_356del c.25_227del | ClinVar |
| 7 | g.44145489_44145563dup | CA2580618176 | GCK | c.*1188_*1251+11dup c.*310_*373+11dup n.416_479+11dup c.224_287+11dup c.1193_1256+11dup c.1190_1253+11dup c.1253_1316+11dup n.202_265+11dup c.242_305+11dup c.1187_1250+11dup c.1139_1202+11dup n.570_633+11dup c.179_242+11dup c.50_113+11dup | ClinVar |
| 7 | g.44145540_44145567delinsTGCGCATTACGTCCTCGCTGCGGCTCTC | CA1703612863 | GCK | c.*1181_*1208delinsGAGAGCCGCAGCGAGGACGTAATGCGCA (n.*1181_*1208delinsGAGAGCCGCAGCGAGGACGTAATGCGCA) c.*303_*330delinsGAGAGCCGCAGCGAGGACGTAATGCGCA (n.*303_*330delinsGAGAGCCGCAGCGAGGACGTAATGCGCA) n.409_436delinsGAGAGCCGCAGCGAGGACGTAATGCGCA c.217_244delinsGAGAGCCGCAGCGAGGACGTAATGCGCA (p.Glu73=) c.1186_1213delinsGAGAGCCGCAGCGAGGACGTAATGCGCA (p.Glu396=) c.1183_1210delinsGAGAGCCGCAGCGAGGACGTAATGCGCA (p.Glu395=) c.1246_1273delinsGAGAGCCGCAGCGAGGACGTAATGCGCA (p.Glu416=) n.195_222delinsGAGAGCCGCAGCGAGGACGTAATGCGCA c.235_262delinsGAGAGCCGCAGCGAGGACGTAATGCGCA (p.Glu79=) c.1180_1207delinsGAGAGCCGCAGCGAGGACGTAATGCGCA (p.Glu394=) c.1132_1159delinsGAGAGCCGCAGCGAGGACGTAATGCGCA (p.Glu378=) n.563_590delinsGAGAGCCGCAGCGAGGACGTAATGCGCA c.172_199delinsGAGAGCCGCAGCGAGGACGTAATGCGCA (p.Glu58=) c.43_70delinsGAGAGCCGCAGCGAGGACGTAATGCGCA (p.Glu15=) | |
| 7 | g.44145547_44145573del | CA574226172 | GCK | c.*1181_*1207del (n.*1181_*1207del) c.*303_*329del (n.*303_*329del) n.409_435del c.217_243del (p.Glu73_Arg81del) c.1186_1212del (p.Glu396_Arg404del) c.1183_1209del (p.Glu395_Arg403del) c.1246_1272del (p.Glu416_Arg424del) n.195_221del c.235_261del (p.Glu79_Arg87del) c.1180_1206del (p.Glu394_Arg402del) c.1132_1158del (p.Glu378_Arg386del) n.563_589del c.172_198del (p.Glu58_Arg66del) c.43_69del (p.Glu15_Arg23del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44145547T>A | CA454863157 | GCK | c.*1201A>T (n.*1201A>T) c.*323A>T (n.*323A>T) n.429A>T c.237A>T (p.Val79=) c.1206A>T (p.Val402=) c.1203A>T (p.Val401=) c.1266A>T (p.Val422=) n.215A>T c.255A>T (p.Val85=) c.1200A>T (p.Val400=) c.1152A>T (p.Val384=) n.583A>T c.192A>T (p.Val64=) c.63A>T (p.Val21=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44145547T>C | CA454863158 | GCK | c.*1201A>G (n.*1201A>G) c.*323A>G (n.*323A>G) n.429A>G c.237A>G (p.Val79=) c.1206A>G (p.Val402=) c.1203A>G (p.Val401=) c.1266A>G (p.Val422=) n.215A>G c.255A>G (p.Val85=) c.1200A>G (p.Val400=) c.1152A>G (p.Val384=) n.583A>G c.192A>G (p.Val64=) c.63A>G (p.Val21=) | |
| 7 | g.44145547T>G | CA454863159 | GCK | c.*1201A>C (n.*1201A>C) c.*323A>C (n.*323A>C) n.429A>C c.237A>C (p.Val79=) c.1206A>C (p.Val402=) c.1203A>C (p.Val401=) c.1266A>C (p.Val422=) n.215A>C c.255A>C (p.Val85=) c.1200A>C (p.Val400=) c.1152A>C (p.Val384=) n.583A>C c.192A>C (p.Val64=) c.63A>C (p.Val21=) | |
| 7 | g.44145547T= | CA1703612866 | GCK | c.*1201A= (n.*1201A=) c.*323A= (n.*323A=) n.429A= c.237A= (p.Val79=) c.1206A= (p.Val402=) c.1203A= (p.Val401=) c.1266A= (p.Val422=) n.215A= c.255A= (p.Val85=) c.1200A= (p.Val400=) c.1152A= (p.Val384=) n.583A= c.192A= (p.Val64=) c.63A= (p.Val21=) | |
| 7 | g.44145548A>C | CA367398445 | GCK | c.*1200T>G (n.*1200T>G) c.*322T>G (n.*322T>G) n.428T>G c.236T>G (p.Val79Gly) c.1205T>G (p.Val402Gly) c.1202T>G (p.Val401Gly) c.1265T>G (p.Val422Gly) n.214T>G c.254T>G (p.Val85Gly) c.1199T>G (p.Val400Gly) c.1151T>G (p.Val384Gly) n.582T>G c.191T>G (p.Val64Gly) c.62T>G (p.Val21Gly) | |
| 7 | g.44145548A>G | CA367398446 | GCK | c.*1200T>C (n.*1200T>C) c.*322T>C (n.*322T>C) n.428T>C c.236T>C (p.Val79Ala) c.1205T>C (p.Val402Ala) c.1202T>C (p.Val401Ala) c.1265T>C (p.Val422Ala) n.214T>C c.254T>C (p.Val85Ala) c.1199T>C (p.Val400Ala) c.1151T>C (p.Val384Ala) n.582T>C c.191T>C (p.Val64Ala) c.62T>C (p.Val21Ala) | |
| 7 | g.44145548A>T | CA367398448 | GCK | c.*1200T>A (n.*1200T>A) c.*322T>A (n.*322T>A) n.428T>A c.236T>A (p.Val79Glu) c.1205T>A (p.Val402Glu) c.1202T>A (p.Val401Glu) c.1265T>A (p.Val422Glu) n.214T>A c.254T>A (p.Val85Glu) c.1199T>A (p.Val400Glu) c.1151T>A (p.Val384Glu) n.582T>A c.191T>A (p.Val64Glu) c.62T>A (p.Val21Glu) | |
| 7 | g.44145549del | CA2695202989 | GCK | c.*1199del (n.*1199del) c.*321del (n.*321del) n.427del c.235del (p.Val79Ter) c.1204del (p.Val402Ter) c.1201del (p.Val401Ter) c.1264del (p.Val422Ter) n.213del c.253del (p.Val85Ter) c.1198del (p.Val400Ter) c.1150del (p.Val384Ter) n.581del c.190del (p.Val64Ter) c.61del (p.Val21Ter) | |
| 7 | g.44145549C>A | CA367398450 | GCK | c.*1199G>T (n.*1199G>T) c.*321G>T (n.*321G>T) n.427G>T c.235G>T (p.Val79Leu) c.1204G>T (p.Val402Leu) c.1201G>T (p.Val401Leu) c.1264G>T (p.Val422Leu) n.213G>T c.253G>T (p.Val85Leu) c.1198G>T (p.Val400Leu) c.1150G>T (p.Val384Leu) n.581G>T c.190G>T (p.Val64Leu) c.61G>T (p.Val21Leu) | |
| 7 | g.44145549C= | CA1703612867 | GCK | c.*1199G= (n.*1199G=) c.*321G= (n.*321G=) n.427G= c.235G= (p.Val79=) c.1204G= (p.Val402=) c.1201G= (p.Val401=) c.1264G= (p.Val422=) n.213G= c.253G= (p.Val85=) c.1198G= (p.Val400=) c.1150G= (p.Val384=) n.581G= c.190G= (p.Val64=) c.61G= (p.Val21=) | |
| 7 | g.44145549C>G | CA367398453 | GCK | c.*1199G>C (n.*1199G>C) c.*321G>C (n.*321G>C) n.427G>C c.235G>C (p.Val79Leu) c.1204G>C (p.Val402Leu) c.1201G>C (p.Val401Leu) c.1264G>C (p.Val422Leu) n.213G>C c.253G>C (p.Val85Leu) c.1198G>C (p.Val400Leu) c.1150G>C (p.Val384Leu) n.581G>C c.190G>C (p.Val64Leu) c.61G>C (p.Val21Leu) | dbSNP gnomAD v2 |
| 7 | g.44145549C>T | CA4239414 | GCK | c.*1199G>A (n.*1199G>A) c.*321G>A (n.*321G>A) n.427G>A c.235G>A (p.Val79Ile) c.1204G>A (p.Val402Ile) c.1201G>A (p.Val401Ile) c.1264G>A (p.Val422Ile) n.213G>A c.253G>A (p.Val85Ile) c.1198G>A (p.Val400Ile) c.1150G>A (p.Val384Ile) n.581G>A c.190G>A (p.Val64Ile) c.61G>A (p.Val21Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44145550G>A | CA454863160 | GCK | c.*1198C>T (n.*1198C>T) c.*320C>T (n.*320C>T) n.426C>T c.234C>T (p.Asp78=) c.1203C>T (p.Asp401=) c.1200C>T (p.Asp400=) c.1263C>T (p.Asp421=) n.212C>T c.252C>T (p.Asp84=) c.1197C>T (p.Asp399=) c.1149C>T (p.Asp383=) n.580C>T c.189C>T (p.Asp63=) c.60C>T (p.Asp20=) | |
| 7 | g.44145550G>C | CA4239415 | GCK | c.*1198C>G (n.*1198C>G) c.*320C>G (n.*320C>G) n.426C>G c.234C>G (p.Asp78Glu) c.1203C>G (p.Asp401Glu) c.1200C>G (p.Asp400Glu) c.1263C>G (p.Asp421Glu) n.212C>G c.252C>G (p.Asp84Glu) c.1197C>G (p.Asp399Glu) c.1149C>G (p.Asp383Glu) n.580C>G c.189C>G (p.Asp63Glu) c.60C>G (p.Asp20Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44145550G= | CA1703612868 | GCK | c.*1198C= (n.*1198C=) c.*320C= (n.*320C=) n.426C= c.234C= (p.Asp78=) c.1203C= (p.Asp401=) c.1200C= (p.Asp400=) c.1263C= (p.Asp421=) n.212C= c.252C= (p.Asp84=) c.1197C= (p.Asp399=) c.1149C= (p.Asp383=) n.580C= c.189C= (p.Asp63=) c.60C= (p.Asp20=) | |
| 7 | g.44145550G>T | CA367398459 | GCK | c.*1198C>A (n.*1198C>A) c.*320C>A (n.*320C>A) n.426C>A c.234C>A (p.Asp78Glu) c.1203C>A (p.Asp401Glu) c.1200C>A (p.Asp400Glu) c.1263C>A (p.Asp421Glu) n.212C>A c.252C>A (p.Asp84Glu) c.1197C>A (p.Asp399Glu) c.1149C>A (p.Asp383Glu) n.580C>A c.189C>A (p.Asp63Glu) c.60C>A (p.Asp20Glu) | gnomAD v4 |
| 7 | g.44145551T>A | CA367398463 | GCK | c.*1197A>T (n.*1197A>T) c.*319A>T (n.*319A>T) n.425A>T c.233A>T (p.Asp78Val) c.1202A>T (p.Asp401Val) c.1199A>T (p.Asp400Val) c.1262A>T (p.Asp421Val) n.211A>T c.251A>T (p.Asp84Val) c.1196A>T (p.Asp399Val) c.1148A>T (p.Asp383Val) n.579A>T c.188A>T (p.Asp63Val) c.59A>T (p.Asp20Val) | |
| 7 | g.44145551T>C | CA4239416 | GCK | c.*1197A>G (n.*1197A>G) c.*319A>G (n.*319A>G) n.425A>G c.233A>G (p.Asp78Gly) c.1202A>G (p.Asp401Gly) c.1199A>G (p.Asp400Gly) c.1262A>G (p.Asp421Gly) n.211A>G c.251A>G (p.Asp84Gly) c.1196A>G (p.Asp399Gly) c.1148A>G (p.Asp383Gly) n.579A>G c.188A>G (p.Asp63Gly) c.59A>G (p.Asp20Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44145551T>G | CA367398469 | GCK | c.*1197A>C (n.*1197A>C) c.*319A>C (n.*319A>C) n.425A>C c.233A>C (p.Asp78Ala) c.1202A>C (p.Asp401Ala) c.1199A>C (p.Asp400Ala) c.1262A>C (p.Asp421Ala) n.211A>C c.251A>C (p.Asp84Ala) c.1196A>C (p.Asp399Ala) c.1148A>C (p.Asp383Ala) n.579A>C c.188A>C (p.Asp63Ala) c.59A>C (p.Asp20Ala) | |
| 7 | g.44145551T= | CA1703612869 | GCK | c.*1197A= (n.*1197A=) c.*319A= (n.*319A=) n.425A= c.233A= (p.Asp78=) c.1202A= (p.Asp401=) c.1199A= (p.Asp400=) c.1262A= (p.Asp421=) n.211A= c.251A= (p.Asp84=) c.1196A= (p.Asp399=) c.1148A= (p.Asp383=) n.579A= c.188A= (p.Asp63=) c.59A= (p.Asp20=) | |
| 7 | g.44145552C>A | CA367398472 | GCK | c.*1196G>T (n.*1196G>T) c.*318G>T (n.*318G>T) n.424G>T c.232G>T (p.Asp78Tyr) c.1201G>T (p.Asp401Tyr) c.1198G>T (p.Asp400Tyr) c.1261G>T (p.Asp421Tyr) n.210G>T c.250G>T (p.Asp84Tyr) c.1195G>T (p.Asp399Tyr) c.1147G>T (p.Asp383Tyr) n.578G>T c.187G>T (p.Asp63Tyr) c.58G>T (p.Asp20Tyr) | |
| 7 | g.44145552C= | CA1703612870 | GCK | c.*1196G= (n.*1196G=) c.*318G= (n.*318G=) n.424G= c.232G= (p.Asp78=) c.1201G= (p.Asp401=) c.1198G= (p.Asp400=) c.1261G= (p.Asp421=) n.210G= c.250G= (p.Asp84=) c.1195G= (p.Asp399=) c.1147G= (p.Asp383=) n.578G= c.187G= (p.Asp63=) c.58G= (p.Asp20=) | |
| 7 | g.44145552C>G | CA367398474 | GCK | c.*1196G>C (n.*1196G>C) c.*318G>C (n.*318G>C) n.424G>C c.232G>C (p.Asp78His) c.1201G>C (p.Asp401His) c.1198G>C (p.Asp400His) c.1261G>C (p.Asp421His) n.210G>C c.250G>C (p.Asp84His) c.1195G>C (p.Asp399His) c.1147G>C (p.Asp383His) n.578G>C c.187G>C (p.Asp63His) c.58G>C (p.Asp20His) | |
| 7 | g.44145552C>T | CA157913408 | GCK | c.*1196G>A (n.*1196G>A) c.*318G>A (n.*318G>A) n.424G>A c.232G>A (p.Asp78Asn) c.1201G>A (p.Asp401Asn) c.1198G>A (p.Asp400Asn) c.1261G>A (p.Asp421Asn) n.210G>A c.250G>A (p.Asp84Asn) c.1195G>A (p.Asp399Asn) c.1147G>A (p.Asp383Asn) n.578G>A c.187G>A (p.Asp63Asn) c.58G>A (p.Asp20Asn) | dbSNP gnomAD v4 |
| 7 | g.44145553del | CA2682581306 | GCK | c.*1196del (n.*1196del) c.*318del (n.*318del) n.424del c.232del (p.Asp78ThrfsTer2) c.1201del (p.Asp401ThrfsTer2) c.1198del (p.Asp400ThrfsTer2) c.1261del (p.Asp421ThrfsTer2) n.210del c.250del (p.Asp84ThrfsTer2) c.1195del (p.Asp399ThrfsTer2) c.1147del (p.Asp383ThrfsTer2) n.578del c.187del (p.Asp63ThrfsTer2) c.58del (p.Asp20ThrfsTer2) | gnomAD v4 |
| 7 | g.44145553C>A | CA367398483 | GCK | c.*1195G>T (n.*1195G>T) c.*317G>T (n.*317G>T) n.423G>T c.231G>T (p.Glu77Asp) c.1200G>T (p.Glu400Asp) c.1197G>T (p.Glu399Asp) c.1260G>T (p.Glu420Asp) n.209G>T c.249G>T (p.Glu83Asp) c.1194G>T (p.Glu398Asp) c.1146G>T (p.Glu382Asp) n.577G>T c.186G>T (p.Glu62Asp) c.57G>T (p.Glu19Asp) | gnomAD v4 |
| 7 | g.44145553C>G | CA367398480 | GCK | c.*1195G>C (n.*1195G>C) c.*317G>C (n.*317G>C) n.423G>C c.231G>C (p.Glu77Asp) c.1200G>C (p.Glu400Asp) c.1197G>C (p.Glu399Asp) c.1260G>C (p.Glu420Asp) n.209G>C c.249G>C (p.Glu83Asp) c.1194G>C (p.Glu398Asp) c.1146G>C (p.Glu382Asp) n.577G>C c.186G>C (p.Glu62Asp) c.57G>C (p.Glu19Asp) | |
| 7 | g.44145553C>T | CA454863164 | GCK | c.*1195G>A (n.*1195G>A) c.*317G>A (n.*317G>A) n.423G>A c.231G>A (p.Glu77=) c.1200G>A (p.Glu400=) c.1197G>A (p.Glu399=) c.1260G>A (p.Glu420=) n.209G>A c.249G>A (p.Glu83=) c.1194G>A (p.Glu398=) c.1146G>A (p.Glu382=) n.577G>A c.186G>A (p.Glu62=) c.57G>A (p.Glu19=) | |
| 7 | g.44145554T>A | CA367398486 | GCK | c.*1194A>T (n.*1194A>T) c.*316A>T (n.*316A>T) n.422A>T c.230A>T (p.Glu77Val) c.1199A>T (p.Glu400Val) c.1196A>T (p.Glu399Val) c.1259A>T (p.Glu420Val) n.208A>T c.248A>T (p.Glu83Val) c.1193A>T (p.Glu398Val) c.1145A>T (p.Glu382Val) n.576A>T c.185A>T (p.Glu62Val) c.56A>T (p.Glu19Val) | |
| 7 | g.44145554T>C | CA367398489 | GCK | c.*1194A>G (n.*1194A>G) c.*316A>G (n.*316A>G) n.422A>G c.230A>G (p.Glu77Gly) c.1199A>G (p.Glu400Gly) c.1196A>G (p.Glu399Gly) c.1259A>G (p.Glu420Gly) n.208A>G c.248A>G (p.Glu83Gly) c.1193A>G (p.Glu398Gly) c.1145A>G (p.Glu382Gly) n.576A>G c.185A>G (p.Glu62Gly) c.56A>G (p.Glu19Gly) | gnomAD v4 |
| 7 | g.44145554T>G | CA367398487 | GCK | c.*1194A>C (n.*1194A>C) c.*316A>C (n.*316A>C) n.422A>C c.230A>C (p.Glu77Ala) c.1199A>C (p.Glu400Ala) c.1196A>C (p.Glu399Ala) c.1259A>C (p.Glu420Ala) n.208A>C c.248A>C (p.Glu83Ala) c.1193A>C (p.Glu398Ala) c.1145A>C (p.Glu382Ala) n.576A>C c.185A>C (p.Glu62Ala) c.56A>C (p.Glu19Ala) | |
| 7 | g.44145555C>A | CA367398495 | GCK | c.*1193G>T (n.*1193G>T) c.*315G>T (n.*315G>T) n.421G>T c.229G>T (p.Glu77Ter) c.1198G>T (p.Glu400Ter) c.1195G>T (p.Glu399Ter) c.1258G>T (p.Glu420Ter) n.207G>T c.247G>T (p.Glu83Ter) c.1192G>T (p.Glu398Ter) c.1144G>T (p.Glu382Ter) n.575G>T c.184G>T (p.Glu62Ter) c.55G>T (p.Glu19Ter) | ClinVar gnomAD v4 |
| 7 | g.44145555C= | CA1703612871 | GCK | c.*1193G= (n.*1193G=) c.*315G= (n.*315G=) n.421G= c.229G= (p.Glu77=) c.1198G= (p.Glu400=) c.1195G= (p.Glu399=) c.1258G= (p.Glu420=) n.207G= c.247G= (p.Glu83=) c.1192G= (p.Glu398=) c.1144G= (p.Glu382=) n.575G= c.184G= (p.Glu62=) c.55G= (p.Glu19=) | |
| 7 | g.44145555C>G | CA367398498 | GCK | c.*1193G>C (n.*1193G>C) c.*315G>C (n.*315G>C) n.421G>C c.229G>C (p.Glu77Gln) c.1198G>C (p.Glu400Gln) c.1195G>C (p.Glu399Gln) c.1258G>C (p.Glu420Gln) n.207G>C c.247G>C (p.Glu83Gln) c.1192G>C (p.Glu398Gln) c.1144G>C (p.Glu382Gln) n.575G>C c.184G>C (p.Glu62Gln) c.55G>C (p.Glu19Gln) | |
| 7 | g.44145555C>T | CA4239417 | GCK | c.*1193G>A (n.*1193G>A) c.*315G>A (n.*315G>A) n.421G>A c.229G>A (p.Glu77Lys) c.1198G>A (p.Glu400Lys) c.1195G>A (p.Glu399Lys) c.1258G>A (p.Glu420Lys) n.207G>A c.247G>A (p.Glu83Lys) c.1192G>A (p.Glu398Lys) c.1144G>A (p.Glu382Lys) n.575G>A c.184G>A (p.Glu62Lys) c.55G>A (p.Glu19Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44145558_44145571del | CA2695202991 | GCK | c.*1180_*1193del (n.*1180_*1193del) c.*302_*315del (n.*302_*315del) n.408_421del c.216_229del (p.Glu73GlyfsTer?) c.1185_1198del (p.Glu396GlyfsTer?) c.1182_1195del (p.Glu395GlyfsTer?) c.1245_1258del (p.Glu416GlyfsTer?) n.194_207del c.234_247del (p.Glu79GlyfsTer?) c.1179_1192del (p.Glu394GlyfsTer?) c.1131_1144del (p.Glu378GlyfsTer?) n.562_575del c.171_184del (p.Glu58GlyfsTer?) c.42_55del (p.Glu15GlyfsTer?) | |
| 7 | g.44145556G>A | CA454863166 | GCK | c.*1192C>T (n.*1192C>T) c.*314C>T (n.*314C>T) n.420C>T c.228C>T (p.Ser76=) c.1197C>T (p.Ser399=) c.1194C>T (p.Ser398=) c.1257C>T (p.Ser419=) n.206C>T c.246C>T (p.Ser82=) c.1191C>T (p.Ser397=) c.1143C>T (p.Ser381=) n.574C>T c.183C>T (p.Ser61=) c.54C>T (p.Ser18=) | |
| 7 | g.44145556G>C | CA367398508 | GCK | c.*1192C>G (n.*1192C>G) c.*314C>G (n.*314C>G) n.420C>G c.228C>G (p.Ser76Arg) c.1197C>G (p.Ser399Arg) c.1194C>G (p.Ser398Arg) c.1257C>G (p.Ser419Arg) n.206C>G c.246C>G (p.Ser82Arg) c.1191C>G (p.Ser397Arg) c.1143C>G (p.Ser381Arg) n.574C>G c.183C>G (p.Ser61Arg) c.54C>G (p.Ser18Arg) | |
| 7 | g.44145556G>T | CA367398510 | GCK | c.*1192C>A (n.*1192C>A) c.*314C>A (n.*314C>A) n.420C>A c.228C>A (p.Ser76Arg) c.1197C>A (p.Ser399Arg) c.1194C>A (p.Ser398Arg) c.1257C>A (p.Ser419Arg) n.206C>A c.246C>A (p.Ser82Arg) c.1191C>A (p.Ser397Arg) c.1143C>A (p.Ser381Arg) n.574C>A c.183C>A (p.Ser61Arg) c.54C>A (p.Ser18Arg) | gnomAD v4 |
| 7 | g.44145557C>A | CA367398519 | GCK | c.*1191G>T (n.*1191G>T) c.*313G>T (n.*313G>T) n.419G>T c.227G>T (p.Ser76Ile) c.1196G>T (p.Ser399Ile) c.1193G>T (p.Ser398Ile) c.1256G>T (p.Ser419Ile) n.205G>T c.245G>T (p.Ser82Ile) c.1190G>T (p.Ser397Ile) c.1142G>T (p.Ser381Ile) n.573G>T c.182G>T (p.Ser61Ile) c.53G>T (p.Ser18Ile) | gnomAD v4 |
| 7 | g.44145557C= | CA1703612872 | GCK | c.*1191G= (n.*1191G=) c.*313G= (n.*313G=) n.419G= c.227G= (p.Ser76=) c.1196G= (p.Ser399=) c.1193G= (p.Ser398=) c.1256G= (p.Ser419=) n.205G= c.245G= (p.Ser82=) c.1190G= (p.Ser397=) c.1142G= (p.Ser381=) n.573G= c.182G= (p.Ser61=) c.53G= (p.Ser18=) | |
| 7 | g.44145557C>G | CA367398516 | GCK | c.*1191G>C (n.*1191G>C) c.*313G>C (n.*313G>C) n.419G>C c.227G>C (p.Ser76Thr) c.1196G>C (p.Ser399Thr) c.1193G>C (p.Ser398Thr) c.1256G>C (p.Ser419Thr) n.205G>C c.245G>C (p.Ser82Thr) c.1190G>C (p.Ser397Thr) c.1142G>C (p.Ser381Thr) n.573G>C c.182G>C (p.Ser61Thr) c.53G>C (p.Ser18Thr) | |
| 7 | g.44145557C>T | CA367398513 | GCK | c.*1191G>A (n.*1191G>A) c.*313G>A (n.*313G>A) n.419G>A c.227G>A (p.Ser76Asn) c.1196G>A (p.Ser399Asn) c.1193G>A (p.Ser398Asn) c.1256G>A (p.Ser419Asn) n.205G>A c.245G>A (p.Ser82Asn) c.1190G>A (p.Ser397Asn) c.1142G>A (p.Ser381Asn) n.573G>A c.182G>A (p.Ser61Asn) c.53G>A (p.Ser18Asn) | dbSNP gnomAD v2 |
| 7 | g.44145559_44145566del | CA2695202992 | GCK | c.*1184_*1191del (n.*1184_*1191del) c.*306_*313del (n.*306_*313del) n.412_419del c.220_227del (p.Ser74ArgfsTer?) c.1189_1196del (p.Ser397ArgfsTer?) c.1186_1193del (p.Ser396ArgfsTer?) c.1249_1256del (p.Ser417ArgfsTer?) n.198_205del c.238_245del (p.Ser80ArgfsTer?) c.1183_1190del (p.Ser395ArgfsTer?) c.1135_1142del (p.Ser379ArgfsTer?) n.566_573del c.175_182del (p.Ser59ArgfsTer?) c.46_53del (p.Ser16ArgfsTer?) | |
| 7 | g.44145558T>A | CA367398522 | GCK | c.*1190A>T (n.*1190A>T) c.*312A>T (n.*312A>T) n.418A>T c.226A>T (p.Ser76Cys) c.1195A>T (p.Ser399Cys) c.1192A>T (p.Ser398Cys) c.1255A>T (p.Ser419Cys) n.204A>T c.244A>T (p.Ser82Cys) c.1189A>T (p.Ser397Cys) c.1141A>T (p.Ser381Cys) n.572A>T c.181A>T (p.Ser61Cys) c.52A>T (p.Ser18Cys) | |
| 7 | g.44145558T>C | CA367398524 | GCK | c.*1190A>G (n.*1190A>G) c.*312A>G (n.*312A>G) n.418A>G c.226A>G (p.Ser76Gly) c.1195A>G (p.Ser399Gly) c.1192A>G (p.Ser398Gly) c.1255A>G (p.Ser419Gly) n.204A>G c.244A>G (p.Ser82Gly) c.1189A>G (p.Ser397Gly) c.1141A>G (p.Ser381Gly) n.572A>G c.181A>G (p.Ser61Gly) c.52A>G (p.Ser18Gly) | gnomAD v4 |