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.44145541del | CA2695202986 | GCK | c.*1207del (n.*1207del) c.*329del (n.*329del) n.435del c.243del (p.Ile82SerfsTer27) c.1212del (p.Ile405SerfsTer27) c.1209del (p.Ile404SerfsTer27) c.1272del (p.Ile425SerfsTer27) n.221del c.261del (p.Ile88SerfsTer27) c.1206del (p.Ile403SerfsTer27) c.1158del (p.Ile387SerfsTer27) n.589del c.198del (p.Ile67SerfsTer27) c.69del (p.Ile24SerfsTer27) | |
| 7 | g.44145541G>A | CA454863149 | GCK | c.*1207C>T (n.*1207C>T) c.*329C>T (n.*329C>T) n.435C>T c.243C>T (p.Arg81=) c.1212C>T (p.Arg404=) c.1209C>T (p.Arg403=) c.1272C>T (p.Arg424=) n.221C>T c.261C>T (p.Arg87=) c.1206C>T (p.Arg402=) c.1158C>T (p.Arg386=) n.589C>T c.198C>T (p.Arg66=) c.69C>T (p.Arg23=) | gnomAD v4 |
| 7 | g.44145541G>C | CA454863150 | GCK | c.*1207C>G (n.*1207C>G) c.*329C>G (n.*329C>G) n.435C>G c.243C>G (p.Arg81=) c.1212C>G (p.Arg404=) c.1209C>G (p.Arg403=) c.1272C>G (p.Arg424=) n.221C>G c.261C>G (p.Arg87=) c.1206C>G (p.Arg402=) c.1158C>G (p.Arg386=) n.589C>G c.198C>G (p.Arg66=) c.69C>G (p.Arg23=) | |
| 7 | g.44145541G>T | CA454863151 | GCK | c.*1207C>A (n.*1207C>A) c.*329C>A (n.*329C>A) n.435C>A c.243C>A (p.Arg81=) c.1212C>A (p.Arg404=) c.1209C>A (p.Arg403=) c.1272C>A (p.Arg424=) n.221C>A c.261C>A (p.Arg87=) c.1206C>A (p.Arg402=) c.1158C>A (p.Arg386=) n.589C>A c.198C>A (p.Arg66=) c.69C>A (p.Arg23=) | gnomAD v4 |
| 7 | g.44145543_44145544del | CA2695202987 | GCK | c.*1206_*1207del (n.*1206_*1207del) c.*328_*329del (n.*328_*329del) n.434_435del c.242_243del (p.Arg81HisfsTer?) c.1211_1212del (p.Arg404HisfsTer?) c.1208_1209del (p.Arg403HisfsTer?) c.1271_1272del (p.Arg424HisfsTer?) n.220_221del c.260_261del (p.Arg87HisfsTer?) c.1205_1206del (p.Arg402HisfsTer?) c.1157_1158del (p.Arg386HisfsTer?) n.588_589del c.197_198del (p.Arg66HisfsTer?) c.68_69del (p.Arg23HisfsTer?) | |
| 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.44145542C>A | CA157913358 | GCK | c.*1206G>T (n.*1206G>T) c.*328G>T (n.*328G>T) n.434G>T c.242G>T (p.Arg81Leu) c.1211G>T (p.Arg404Leu) c.1208G>T (p.Arg403Leu) c.1271G>T (p.Arg424Leu) n.220G>T c.260G>T (p.Arg87Leu) c.1205G>T (p.Arg402Leu) c.1157G>T (p.Arg386Leu) n.588G>T c.197G>T (p.Arg66Leu) c.68G>T (p.Arg23Leu) | dbSNP |
| 7 | g.44145542C= | CA1703612864 | GCK | c.*1206G= (n.*1206G=) c.*328G= (n.*328G=) n.434G= c.242G= (p.Arg81=) c.1211G= (p.Arg404=) c.1208G= (p.Arg403=) c.1271G= (p.Arg424=) n.220G= c.260G= (p.Arg87=) c.1205G= (p.Arg402=) c.1157G= (p.Arg386=) n.588G= c.197G= (p.Arg66=) c.68G= (p.Arg23=) | |
| 7 | g.44145542C>G | CA367398415 | GCK | c.*1206G>C (n.*1206G>C) c.*328G>C (n.*328G>C) n.434G>C c.242G>C (p.Arg81Pro) c.1211G>C (p.Arg404Pro) c.1208G>C (p.Arg403Pro) c.1271G>C (p.Arg424Pro) n.220G>C c.260G>C (p.Arg87Pro) c.1205G>C (p.Arg402Pro) c.1157G>C (p.Arg386Pro) n.588G>C c.197G>C (p.Arg66Pro) c.68G>C (p.Arg23Pro) | gnomAD v4 |
| 7 | g.44145542C>T | CA367398418 | GCK | c.*1206G>A (n.*1206G>A) c.*328G>A (n.*328G>A) n.434G>A c.242G>A (p.Arg81His) c.1211G>A (p.Arg404His) c.1208G>A (p.Arg403His) c.1271G>A (p.Arg424His) n.220G>A c.260G>A (p.Arg87His) c.1205G>A (p.Arg402His) c.1157G>A (p.Arg386His) n.588G>A c.197G>A (p.Arg66His) c.68G>A (p.Arg23His) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44145543G>A | CA367398420 | GCK | c.*1205C>T (n.*1205C>T) c.*327C>T (n.*327C>T) n.433C>T c.241C>T (p.Arg81Cys) c.1210C>T (p.Arg404Cys) c.1207C>T (p.Arg403Cys) c.1270C>T (p.Arg424Cys) n.219C>T c.259C>T (p.Arg87Cys) c.1204C>T (p.Arg402Cys) c.1156C>T (p.Arg386Cys) n.587C>T c.196C>T (p.Arg66Cys) c.67C>T (p.Arg23Cys) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44145543G>C | CA213737 | GCK | c.*1205C>G (n.*1205C>G) c.*327C>G (n.*327C>G) n.433C>G c.241C>G (p.Arg81Gly) c.1210C>G (p.Arg404Gly) c.1207C>G (p.Arg403Gly) c.1270C>G (p.Arg424Gly) n.219C>G c.259C>G (p.Arg87Gly) c.1204C>G (p.Arg402Gly) c.1156C>G (p.Arg386Gly) n.587C>G c.196C>G (p.Arg66Gly) c.67C>G (p.Arg23Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.44145543G= | CA1703612865 | GCK | c.*1205C= (n.*1205C=) c.*327C= (n.*327C=) n.433C= c.241C= (p.Arg81=) c.1210C= (p.Arg404=) c.1207C= (p.Arg403=) c.1270C= (p.Arg424=) n.219C= c.259C= (p.Arg87=) c.1204C= (p.Arg402=) c.1156C= (p.Arg386=) n.587C= c.196C= (p.Arg66=) c.67C= (p.Arg23=) | |
| 7 | g.44145543G>T | CA157913370 | GCK | c.*1205C>A (n.*1205C>A) c.*327C>A (n.*327C>A) n.433C>A c.241C>A (p.Arg81Ser) c.1210C>A (p.Arg404Ser) c.1207C>A (p.Arg403Ser) c.1270C>A (p.Arg424Ser) n.219C>A c.259C>A (p.Arg87Ser) c.1204C>A (p.Arg402Ser) c.1156C>A (p.Arg386Ser) n.587C>A c.196C>A (p.Arg66Ser) c.67C>A (p.Arg23Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44145544C>A | CA367398426 | GCK | c.*1204G>T (n.*1204G>T) c.*326G>T (n.*326G>T) n.432G>T c.240G>T (p.Met80Ile) c.1209G>T (p.Met403Ile) c.1206G>T (p.Met402Ile) c.1269G>T (p.Met423Ile) n.218G>T c.258G>T (p.Met86Ile) c.1203G>T (p.Met401Ile) c.1155G>T (p.Met385Ile) n.586G>T c.195G>T (p.Met65Ile) c.66G>T (p.Met22Ile) | |
| 7 | g.44145544C>G | CA367398429 | GCK | c.*1204G>C (n.*1204G>C) c.*326G>C (n.*326G>C) n.432G>C c.240G>C (p.Met80Ile) c.1209G>C (p.Met403Ile) c.1206G>C (p.Met402Ile) c.1269G>C (p.Met423Ile) n.218G>C c.258G>C (p.Met86Ile) c.1203G>C (p.Met401Ile) c.1155G>C (p.Met385Ile) n.586G>C c.195G>C (p.Met65Ile) c.66G>C (p.Met22Ile) | |
| 7 | g.44145544C>T | CA367398431 | GCK | c.*1204G>A (n.*1204G>A) c.*326G>A (n.*326G>A) n.432G>A c.240G>A (p.Met80Ile) c.1209G>A (p.Met403Ile) c.1206G>A (p.Met402Ile) c.1269G>A (p.Met423Ile) n.218G>A c.258G>A (p.Met86Ile) c.1203G>A (p.Met401Ile) c.1155G>A (p.Met385Ile) n.586G>A c.195G>A (p.Met65Ile) c.66G>A (p.Met22Ile) | gnomAD v4 |
| 7 | g.44145545A>C | CA367398432 | GCK | c.*1203T>G (n.*1203T>G) c.*325T>G (n.*325T>G) n.431T>G c.239T>G (p.Met80Arg) c.1208T>G (p.Met403Arg) c.1205T>G (p.Met402Arg) c.1268T>G (p.Met423Arg) n.217T>G c.257T>G (p.Met86Arg) c.1202T>G (p.Met401Arg) c.1154T>G (p.Met385Arg) n.585T>G c.194T>G (p.Met65Arg) c.65T>G (p.Met22Arg) | |
| 7 | g.44145545A>G | CA367398435 | GCK | c.*1203T>C (n.*1203T>C) c.*325T>C (n.*325T>C) n.431T>C c.239T>C (p.Met80Thr) c.1208T>C (p.Met403Thr) c.1205T>C (p.Met402Thr) c.1268T>C (p.Met423Thr) n.217T>C c.257T>C (p.Met86Thr) c.1202T>C (p.Met401Thr) c.1154T>C (p.Met385Thr) n.585T>C c.194T>C (p.Met65Thr) c.65T>C (p.Met22Thr) | |
| 7 | g.44145545A>T | CA367398436 | GCK | c.*1203T>A (n.*1203T>A) c.*325T>A (n.*325T>A) n.431T>A c.239T>A (p.Met80Lys) c.1208T>A (p.Met403Lys) c.1205T>A (p.Met402Lys) c.1268T>A (p.Met423Lys) n.217T>A c.257T>A (p.Met86Lys) c.1202T>A (p.Met401Lys) c.1154T>A (p.Met385Lys) n.585T>A c.194T>A (p.Met65Lys) c.65T>A (p.Met22Lys) | |
| 7 | g.44145546T>A | CA367398439 | GCK | c.*1202A>T (n.*1202A>T) c.*324A>T (n.*324A>T) n.430A>T c.238A>T (p.Met80Leu) c.1207A>T (p.Met403Leu) c.1204A>T (p.Met402Leu) c.1267A>T (p.Met423Leu) n.216A>T c.256A>T (p.Met86Leu) c.1201A>T (p.Met401Leu) c.1153A>T (p.Met385Leu) n.584A>T c.193A>T (p.Met65Leu) c.64A>T (p.Met22Leu) | |
| 7 | g.44145546T>C | CA367398442 | GCK | c.*1202A>G (n.*1202A>G) c.*324A>G (n.*324A>G) n.430A>G c.238A>G (p.Met80Val) c.1207A>G (p.Met403Val) c.1204A>G (p.Met402Val) c.1267A>G (p.Met423Val) n.216A>G c.256A>G (p.Met86Val) c.1201A>G (p.Met401Val) c.1153A>G (p.Met385Val) n.584A>G c.193A>G (p.Met65Val) c.64A>G (p.Met22Val) | |
| 7 | g.44145546T>G | CA367398438 | GCK | c.*1202A>C (n.*1202A>C) c.*324A>C (n.*324A>C) n.430A>C c.238A>C (p.Met80Leu) c.1207A>C (p.Met403Leu) c.1204A>C (p.Met402Leu) c.1267A>C (p.Met423Leu) n.216A>C c.256A>C (p.Met86Leu) c.1201A>C (p.Met401Leu) c.1153A>C (p.Met385Leu) n.584A>C c.193A>C (p.Met65Leu) c.64A>C (p.Met22Leu) | |
| 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 |