NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp)
|
rs137853336
|
0.00006
|
NM_000162.5(GCK):c.106C>T (p.Arg36Trp)
|
rs762263694
|
0.00003
|
NM_000545.8(HNF1A):c.827C>G (p.Ala276Gly)
|
rs137853245
|
0.00003
|
NM_000162.5(GCK):c.1042A>T (p.Ile348Phe)
|
rs193922260
|
0.00001
|
NM_000352.6(ABCC8):c.250G>A (p.Val84Ile)
|
rs775776658
|
0.00001
|
NM_000352.6(ABCC8):c.4136G>A (p.Arg1379His)
|
rs193922401
|
0.00001
|
NM_000525.4(KCNJ11):c.100C>T (p.Arg34Cys)
|
rs954727530
|
0.00001
|
NM_000545.8(HNF1A):c.626C>A (p.Ala209Glu)
|
rs1286294151
|
0.00001
|
NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp)
|
rs267607555
|
0.00001
|
NM_175914.5(HNF4A):c.926G>A (p.Arg309His)
|
rs369429452
|
0.00001
|
NG_011731.2:g.4741A>C
|
rs2135818776
|
|
NM_000162.3(GCK):c.1255_1264delTTCAAGGAGC
|
rs2096270755
|
|
NM_000162.5(GCK):c.1010A>C (p.Gln337Pro)
|
|
|
NM_000162.5(GCK):c.1015G>A (p.Glu339Lys)
|
rs397514580
|
|
NM_000162.5(GCK):c.1019+1G>T
|
rs2484505962
|
|
NM_000162.5(GCK):c.1019+5G>A
|
rs2484505927
|
|
NM_000162.5(GCK):c.1020-10C>A
|
rs193922257
|
|
NM_000162.5(GCK):c.1030G>T (p.Asp344Tyr)
|
rs864321656
|
|
NM_000162.5(GCK):c.1054del (p.Ile351_Leu352insTer)
|
rs1562713041
|
|
NM_000162.5(GCK):c.1087G>A (p.Asp363Asn)
|
rs1064793134
|
|
NM_000162.5(GCK):c.1088A>G (p.Asp363Gly)
|
|
|
NM_000162.5(GCK):c.109A>G (p.Met37Val)
|
rs2484540140
|
|
NM_000162.5(GCK):c.110T>C (p.Met37Thr)
|
rs2484540129
|
|
NM_000162.5(GCK):c.1111T>C (p.Cys371Arg)
|
rs2484497875
|
|
NM_000162.5(GCK):c.1112G>A (p.Cys371Tyr)
|
rs587780343
|
|
NM_000162.5(GCK):c.1113C>G (p.Cys371Trp)
|
rs556581174
|
|
NM_000162.5(GCK):c.1114G>T (p.Glu372Ter)
|
rs193922262
|
|
NM_000162.5(GCK):c.1120G>A (p.Val374Met)
|
rs1415041911
|
|
NM_000162.5(GCK):c.1121T>A (p.Val374Glu)
|
rs2484497707
|
|
NM_000162.5(GCK):c.1124C>T (p.Ser375Phe)
|
rs193922263
|
|
NM_000162.5(GCK):c.1129C>A (p.Arg377Ser)
|
rs1471992838
|
|
NM_000162.5(GCK):c.1130G>A (p.Arg377His)
|
rs193922264
|
|
NM_000162.5(GCK):c.1130G>T (p.Arg377Leu)
|
rs193922264
|
|
NM_000162.5(GCK):c.1132G>C (p.Ala378Pro)
|
rs104894016
|
|
NM_000162.5(GCK):c.1132_1133del (p.Ala378fs)
|
rs2484497519
|
|
NM_000162.5(GCK):c.1133C>G (p.Ala378Gly)
|
rs193929374
|
|
NM_000162.5(GCK):c.1133_1149del (p.Ala378fs)
|
rs1554334610
|
|
NM_000162.5(GCK):c.1136C>A (p.Ala379Glu)
|
rs193922265
|
|
NM_000162.5(GCK):c.1136C>G (p.Ala379Gly)
|
rs193922265
|
|
NM_000162.5(GCK):c.1136C>T (p.Ala379Val)
|
rs193922265
|
|
NM_000162.5(GCK):c.113A>C (p.Gln38Pro)
|
rs1064794268
|
|
NM_000162.5(GCK):c.113A>T (p.Gln38Leu)
|
rs1064794268
|
|
NM_000162.5(GCK):c.1142T>A (p.Met381Lys)
|
rs193922266
|
|
NM_000162.5(GCK):c.1142T>G (p.Met381Arg)
|
rs193922266
|
|
NM_000162.5(GCK):c.1144T>G (p.Cys382Gly)
|
rs1554334613
|
|
NM_000162.5(GCK):c.1144del (p.Cys382fs)
|
rs2484497283
|
|
NM_000162.5(GCK):c.1147T>A (p.Ser383Thr)
|
rs749298368
|
|
NM_000162.5(GCK):c.1147T>C (p.Ser383Pro)
|
rs749298368
|
|
NM_000162.5(GCK):c.1148C>A (p.Ser383Ter)
|
|
|
NM_000162.5(GCK):c.1148C>G (p.Ser383Trp)
|
rs777870079
|
|
NM_000162.5(GCK):c.1150G>A (p.Ala384Thr)
|
rs1376620210
|
|
NM_000162.5(GCK):c.1151C>T (p.Ala384Val)
|
rs1583591747
|
|
NM_000162.5(GCK):c.1153G>A (p.Gly385Arg)
|
rs193922267
|
|
NM_000162.5(GCK):c.1153G>T (p.Gly385Trp)
|
|
|
NM_000162.5(GCK):c.1154G>T (p.Gly385Val)
|
|
|
NM_000162.5(GCK):c.1155dup (p.Leu386fs)
|
rs1400535021
|
|
NM_000162.5(GCK):c.1157T>G (p.Leu386Arg)
|
rs193922268
|
|
NM_000162.5(GCK):c.1160C>A (p.Ala387Glu)
|
rs193921338
|
|
NM_000162.5(GCK):c.1163G>A (p.Gly388Asp)
|
rs2096271482
|
|
NM_000162.5(GCK):c.1166T>A (p.Val389Asp)
|
rs2096271467
|
|
NM_000162.5(GCK):c.1166TCA[1] (p.Ile390del)
|
rs2128819209
|
|
NM_000162.5(GCK):c.1169del (p.Ile390fs)
|
rs2484496778
|
|
NM_000162.5(GCK):c.1174C>A (p.Arg392Ser)
|
rs1167124132
|
|
NM_000162.5(GCK):c.1175G>C (p.Arg392Pro)
|
rs193922269
|
|
NM_000162.5(GCK):c.1180C>A (p.Arg394Ser)
|
|
|
NM_000162.5(GCK):c.1181G>C (p.Arg394Pro)
|
rs1235227560
|
|
NM_000162.5(GCK):c.1181G>T (p.Arg394Leu)
|
rs1235227560
|
|
NM_000162.5(GCK):c.1189C>G (p.Arg397Gly)
|
rs370464857
|
|
NM_000162.5(GCK):c.1189C>T (p.Arg397Cys)
|
rs370464857
|
|
NM_000162.5(GCK):c.1229G>A (p.Gly410Asp)
|
rs1554334546
|
|
NM_000162.5(GCK):c.122T>C (p.Met41Thr)
|
rs1057524906
|
|
NM_000162.5(GCK):c.1240A>G (p.Lys414Glu)
|
rs193922272
|
|
NM_000162.5(GCK):c.1256T>C (p.Phe419Ser)
|
rs2484493609
|
|
NM_000162.5(GCK):c.1265_1273delinsTGCGAGCCACCTTCAT (p.Arg422fs)
|
rs2484493345
|
|
NM_000162.5(GCK):c.1270C>T (p.His424Tyr)
|
rs2484493384
|
|
NM_000162.5(GCK):c.1278_1279del (p.Val427fs)
|
rs2128818859
|
|
NM_000162.5(GCK):c.1283_1284del (p.Arg428fs)
|
rs193922275
|
|
NM_000162.5(GCK):c.128G>A (p.Arg43His)
|
rs764232985
|
|
NM_000162.5(GCK):c.1298_1309del (p.Ser433_Ile436del)
|
rs2484492810
|
|
NM_000162.5(GCK):c.1306A>T (p.Ile436Phe)
|
rs755498926
|
|
NM_000162.5(GCK):c.1310C>T (p.Thr437Ile)
|
rs1185622190
|
|
NM_000162.5(GCK):c.1331dup (p.Ser445fs)
|
rs2484492358
|
|
NM_000162.5(GCK):c.1332del (p.Ser445fs)
|
rs193922280
|
|
NM_000162.5(GCK):c.1344del (p.Ala449fs)
|
rs1057524901
|
|
NM_000162.5(GCK):c.1345G>T (p.Ala449Ser)
|
rs193922282
|
|
NM_000162.5(GCK):c.1346_1347del (p.Ala449fs)
|
rs2484492040
|
|
NM_000162.5(GCK):c.1348del (p.Ala450fs)
|
rs2484492019
|
|
NM_000162.5(GCK):c.1351del (p.Leu451fs)
|
rs2484491967
|
|
NM_000162.5(GCK):c.1358C>A (p.Ser453Ter)
|
rs193922283
|
|
NM_000162.5(GCK):c.1358C>T (p.Ser453Leu)
|
rs193922283
|
|
NM_000162.5(GCK):c.1358_*127delinsT (p.Ser453fs)
|
rs2484490183
|
|
NM_000162.5(GCK):c.1361C>A (p.Ala454Glu)
|
rs1057524900
|
|
NM_000162.5(GCK):c.1361C>T (p.Ala454Val)
|
rs1057524900
|
|
NM_000162.5(GCK):c.1363dup (p.Val455fs)
|
rs377247972
|
|
NM_000162.5(GCK):c.1368del (p.Cys457fs)
|
rs2484491553
|
|
NM_000162.5(GCK):c.1372_1373del (p.Lys458fs)
|
rs193922284
|
|
NM_000162.5(GCK):c.1379_*2del (p.Ala460fs)
|
rs2484491206
|
|
NM_000162.5(GCK):c.1391_1392del (p.Gly464fs)
|
rs2484491285
|
|
NM_000162.5(GCK):c.1391del (p.Gly464fs)
|
rs2484491317
|
|
NM_000162.5(GCK):c.1396T>C (p.Ter466Arg)
|
rs2484491257
|
|
NM_000162.5(GCK):c.1398A>G (p.Ter466Trp)
|
rs2484491222
|
|
NM_000162.5(GCK):c.146C>A (p.Thr49Asn)
|
rs193922286
|
|
NM_000162.5(GCK):c.162T>G (p.Ser54Arg)
|
|
|
NM_000162.5(GCK):c.167A>C (p.Lys56Thr)
|
rs2096283096
|
|
NM_000162.5(GCK):c.170T>A (p.Met57Lys)
|
rs2484539759
|
|
NM_000162.5(GCK):c.170T>G (p.Met57Arg)
|
|
|
NM_000162.5(GCK):c.171G>A (p.Met57Ile)
|
rs1057520109
|
|
NM_000162.5(GCK):c.171G>T (p.Met57Ile)
|
rs1057520109
|
|
NM_000162.5(GCK):c.214G>A (p.Gly72Arg)
|
rs193922289
|
|
NM_000162.5(GCK):c.233A>G (p.Asp78Gly)
|
|
|
NM_000162.5(GCK):c.304A>T (p.Lys102Ter)
|
rs193922291
|
|
NM_000162.5(GCK):c.349G>C (p.Gly117Arg)
|
rs748554061
|
|
NM_000162.5(GCK):c.350G>T (p.Gly117Val)
|
rs2484534928
|
|
NM_000162.5(GCK):c.364C>A (p.Leu122Ile)
|
rs1554335616
|
|
NM_000162.5(GCK):c.364C>G (p.Leu122Val)
|
rs1554335616
|
|
NM_000162.5(GCK):c.364C>T (p.Leu122Phe)
|
|
|
NM_000162.5(GCK):c.365T>C (p.Leu122Pro)
|
rs2484530226
|
|
NM_000162.5(GCK):c.389T>A (p.Ile130Asn)
|
rs1036483919
|
|
NM_000162.5(GCK):c.389T>C (p.Ile130Thr)
|
rs1036483919
|
|
NM_000162.5(GCK):c.409C>G (p.His137Asp)
|
|
|
NM_000162.5(GCK):c.410A>G (p.His137Arg)
|
rs2484529889
|
|
NM_000162.5(GCK):c.437T>G (p.Leu146Arg)
|
rs2096280084
|
|
NM_000162.5(GCK):c.450C>A (p.Phe150Leu)
|
rs193922299
|
|
NM_000162.5(GCK):c.457C>T (p.Pro153Ser)
|
rs193922300
|
|
NM_000162.5(GCK):c.458C>A (p.Pro153His)
|
rs2484529426
|
|
NM_000162.5(GCK):c.46-1G>A
|
rs2484540715
|
|
NM_000162.5(GCK):c.46-1G>T
|
|
|
NM_000162.5(GCK):c.461T>G (p.Val154Gly)
|
rs2484529399
|
|
NM_000162.5(GCK):c.464G>C (p.Arg155Thr)
|
rs1554335573
|
|
NM_000162.5(GCK):c.465G>T (p.Arg155Ser)
|
rs757281286
|
|
NM_000162.5(GCK):c.466C>T (p.His156Tyr)
|
rs1562718043
|
|
NM_000162.5(GCK):c.475A>G (p.Ile159Val)
|
rs1319364468
|
|
NM_000162.5(GCK):c.509_517dup (p.Lys172_Ala173insGlyPheLys)
|
rs2484524321
|
|
NM_000162.5(GCK):c.524G>A (p.Gly175Glu)
|
rs2128821624
|
|
NM_000162.5(GCK):c.531A>T (p.Glu177Asp)
|
|
|
NM_000162.5(GCK):c.559G>C (p.Asp187His)
|
rs2484523947
|
|
NM_000162.5(GCK):c.559G>T (p.Asp187Tyr)
|
rs2484523947
|
|
NM_000162.5(GCK):c.563C>T (p.Ala188Val)
|
rs193922307
|
|
NM_000162.5(GCK):c.567C>G (p.Ile189Met)
|
rs2128821587
|
|
NM_000162.5(GCK):c.622G>C (p.Ala208Pro)
|
rs1476637197
|
|
NM_000162.5(GCK):c.627_628delinsAG (p.Met210Val)
|
rs2484522653
|
|
NM_000162.5(GCK):c.628A>G (p.Met210Val)
|
rs2484522642
|
|
NM_000162.5(GCK):c.658T>C (p.Cys220Arg)
|
rs193922315
|
|
NM_000162.5(GCK):c.663_673dup (p.Ile225delinsArgSerAlaTer)
|
|
|
NM_000162.5(GCK):c.677T>C (p.Val226Ala)
|
rs193922319
|
|
NM_000162.5(GCK):c.679+2T>C
|
|
|
NM_000162.5(GCK):c.682A>G (p.Thr228Ala)
|
rs1332966015
|
|
NM_000162.5(GCK):c.688T>C (p.Cys230Arg)
|
rs794727839
|
|
NM_000162.5(GCK):c.736G>A (p.Gly246Arg)
|
rs2096275721
|
|
NM_000162.5(GCK):c.737G>A (p.Gly246Glu)
|
rs1583596522
|
|
NM_000162.5(GCK):c.737G>C (p.Gly246Ala)
|
rs1583596522
|
|
NM_000162.5(GCK):c.748C>T (p.Arg250Cys)
|
rs1057524904
|
|
NM_000162.5(GCK):c.749G>A (p.Arg250His)
|
rs370375148
|
|
NM_000162.5(GCK):c.775G>T (p.Ala259Ser)
|
rs1375656631
|
|
NM_000162.5(GCK):c.797delinsAA (p.Leu266fs)
|
|
|
NM_000162.5(GCK):c.820G>A (p.Asp274Asn)
|
|
|
NM_000162.5(GCK):c.820G>T (p.Asp274Tyr)
|
|
|
NM_000162.5(GCK):c.821A>C (p.Asp274Ala)
|
|
|
NM_000162.5(GCK):c.821A>G (p.Asp274Gly)
|
|
|
NM_000162.5(GCK):c.822C>A (p.Asp274Glu)
|
rs756251613
|
|
NM_000162.5(GCK):c.824G>C (p.Arg275Pro)
|
rs767565869
|
|
NM_000162.5(GCK):c.824G>T (p.Arg275Leu)
|
rs767565869
|
|
NM_000162.5(GCK):c.883G>A (p.Gly295Ser)
|
rs1554334905
|
|
NM_000162.5(GCK):c.884G>A (p.Gly295Asp)
|
rs2096273902
|
|
NM_000162.5(GCK):c.884G>T (p.Gly295Val)
|
rs2096273902
|
|
NM_000162.5(GCK):c.898G>A (p.Glu300Lys)
|
rs1255911887
|
|
NM_000162.5(GCK):c.899A>G (p.Glu300Gly)
|
rs2484507251
|
|
NM_000162.5(GCK):c.952G>A (p.Gly318Arg)
|
rs193922340
|
|
NM_000162.5(GCK):c.98T>C (p.Val33Ala)
|
rs1554335954
|
|
NM_000207.3(INS):c.278A>G (p.Glu93Gly)
|
rs1057524907
|
|
NM_000352.6(ABCC8):c.4135C>T (p.Arg1379Cys)
|
rs137852673
|
|
NM_000545.8(HNF1A):c.1359del (p.Ser454fs)
|
rs1555212359
|
|
NM_000545.8(HNF1A):c.1501+1G>A
|
rs1131692182
|
|
NM_000545.8(HNF1A):c.1501+1G>T
|
rs1131692182
|
|
NM_000545.8(HNF1A):c.1506_1507dup (p.Tyr503fs)
|
rs193922582
|
|
NM_000545.8(HNF1A):c.1623+2T>C
|
|
|
NM_000545.8(HNF1A):c.1624-1G>A
|
|
|
NM_000545.8(HNF1A):c.169del (p.Leu57fs)
|
rs193922588
|
|
NM_000545.8(HNF1A):c.16A>T (p.Ser6Cys)
|
rs2135819349
|
|
NM_000545.8(HNF1A):c.1720_1733delinsGGCATCCAGCACC (p.Ser574fs)
|
rs587778399
|
|
NM_000545.8(HNF1A):c.1768+1G>C
|
|
|
NM_000545.8(HNF1A):c.1768+1G>T
|
|
|
NM_000545.8(HNF1A):c.1772_1773del (p.Ser591fs)
|
rs2135854397
|
|
NM_000545.8(HNF1A):c.1786del (p.Val596fs)
|
rs2135854461
|
|
NM_000545.8(HNF1A):c.1802del (p.Ser600_Ser601insTer)
|
rs2135854520
|
|
NM_000545.8(HNF1A):c.1840_1841del (p.Asn614fs)
|
rs2135854670
|
|
NM_000545.8(HNF1A):c.1853_1854del (p.Ile618fs)
|
|
|
NM_000545.8(HNF1A):c.186del (p.Asn62fs)
|
rs2135819908
|
|
NM_000545.8(HNF1A):c.1A>C (p.Met1Leu)
|
rs193922592
|
|
NM_000545.8(HNF1A):c.206del (p.Gly69fs)
|
rs2135819979
|
|
NM_000545.8(HNF1A):c.217G>T (p.Glu73Ter)
|
rs905788991
|
|
NM_000545.8(HNF1A):c.24_35dup (p.Gln9_Leu12dup)
|
rs2135819368
|
|
NM_000545.8(HNF1A):c.259A>T (p.Lys87Ter)
|
rs2135820197
|
|
NM_000545.8(HNF1A):c.281C>T (p.Pro94Leu)
|
rs193922593
|
|
NM_000545.8(HNF1A):c.282dup (p.Glu95Ter)
|
rs2135820267
|
|
NM_000545.8(HNF1A):c.28A>C (p.Thr10Pro)
|
rs2135819400
|
|
NM_000545.8(HNF1A):c.313dup (p.Glu105fs)
|
rs193922594
|
|
NM_000545.8(HNF1A):c.319C>A (p.Leu107Ile)
|
rs2135820404
|
|
NM_000545.8(HNF1A):c.320T>C (p.Leu107Pro)
|
rs2135820413
|
|
NM_000545.8(HNF1A):c.320T>G (p.Leu107Arg)
|
rs2135820413
|
|
NM_000545.8(HNF1A):c.326+2T>G
|
rs1555210478
|
|
NM_000545.8(HNF1A):c.327-2A>T
|
rs2135832423
|
|
NM_000545.8(HNF1A):c.342dup (p.Val115fs)
|
rs2135832474
|
|
NM_000545.8(HNF1A):c.343G>T (p.Val115Leu)
|
rs1876667856
|
|
NM_000545.8(HNF1A):c.346G>A (p.Ala116Thr)
|
|
|
NM_000545.8(HNF1A):c.349A>G (p.Lys117Glu)
|
|
|
NM_000545.8(HNF1A):c.34C>G (p.Leu12Val)
|
rs1275805852
|
|
NM_000545.8(HNF1A):c.34C>T (p.Leu12Phe)
|
rs1275805852
|
|
NM_000545.8(HNF1A):c.358A>G (p.Lys120Glu)
|
rs2499987472
|
|
NM_000545.8(HNF1A):c.35T>G (p.Leu12Arg)
|
rs2135819422
|
|
NM_000545.8(HNF1A):c.360G>C (p.Lys120Asn)
|
rs2499987474
|
|
NM_000545.8(HNF1A):c.363del (p.Tyr122fs)
|
|
|
NM_000545.8(HNF1A):c.365A>G (p.Tyr122Cys)
|
rs137853237
|
|
NM_000545.8(HNF1A):c.367C>G (p.Leu123Val)
|
rs1876669134
|
|
NM_000545.8(HNF1A):c.369GCA[4] (p.Gln125dup)
|
rs193922596
|
|
NM_000545.8(HNF1A):c.370C>T (p.Gln124Ter)
|
rs1565883507
|
|
NM_000545.8(HNF1A):c.377ACA[1] (p.Asn127del)
|
rs2135832562
|
|
NM_000545.8(HNF1A):c.388C>G (p.Gln130Glu)
|
rs1876669962
|
|
NM_000545.8(HNF1A):c.390G>T (p.Gln130His)
|
rs2135832585
|
|
NM_000545.8(HNF1A):c.392G>T (p.Arg131Leu)
|
rs753998395
|
|
NM_000545.8(HNF1A):c.395A>T (p.Glu132Val)
|
rs2499987570
|
|
NM_000545.8(HNF1A):c.397G>A (p.Val133Met)
|
rs2135832611
|
|
NM_000545.8(HNF1A):c.399_405del (p.Val134fs)
|
rs2135832615
|
|
NM_000545.8(HNF1A):c.415C>G (p.Leu139Val)
|
|
|
NM_000545.8(HNF1A):c.415C>T (p.Leu139Phe)
|
rs1475566248
|
|
NM_000545.8(HNF1A):c.416T>C (p.Leu139Pro)
|
rs2499987661
|
|
NM_000545.8(HNF1A):c.427del (p.His143fs)
|
rs2135832675
|
|
NM_000545.8(HNF1A):c.429C>G (p.His143Gln)
|
rs2135832689
|
|
NM_000545.8(HNF1A):c.460A>G (p.Met154Val)
|
|
|
NM_000545.8(HNF1A):c.461T>C (p.Met154Thr)
|
rs2135832753
|
|
NM_000545.8(HNF1A):c.472A>G (p.Lys158Glu)
|
|
|
NM_000545.8(HNF1A):c.474_475delinsCT (p.Lys158_Arg159delinsAsnTrp)
|
|
|
NM_000545.8(HNF1A):c.475C>G (p.Arg159Gly)
|
rs765432081
|
|
NM_000545.8(HNF1A):c.485T>C (p.Leu162Pro)
|
rs1555211434
|
|
NM_000545.8(HNF1A):c.497dup (p.Tyr166Ter)
|
|
|
NM_000545.8(HNF1A):c.498C>A (p.Tyr166Ter)
|
rs1876675633
|
|
NM_000545.8(HNF1A):c.498C>G (p.Tyr166Ter)
|
|
|
NM_000545.8(HNF1A):c.511C>G (p.Arg171Gly)
|
rs1057520291
|
|
NM_000545.8(HNF1A):c.517G>A (p.Val173Met)
|
rs2499987988
|
|
NM_000545.8(HNF1A):c.518_526+37del
|
rs386134267
|
|
NM_000545.8(HNF1A):c.58G>C (p.Gly20Arg)
|
rs1249563793
|
|
NM_000545.8(HNF1A):c.59G>A (p.Gly20Glu)
|
rs1566092362
|
|
NM_000545.8(HNF1A):c.59G>C (p.Gly20Ala)
|
rs1566092362
|
|
NM_000545.8(HNF1A):c.616T>A (p.Trp206Arg)
|
rs1057524898
|
|
NM_000545.8(HNF1A):c.619G>T (p.Gly207Cys)
|
rs2135839346
|
|
NM_000545.8(HNF1A):c.637A>T (p.Ile213Phe)
|
rs2499995510
|
|
NM_000545.8(HNF1A):c.663GAA[1] (p.Lys222del)
|
rs193922599
|
|
NM_000545.8(HNF1A):c.670C>T (p.Pro224Ser)
|
rs193922600
|
|
NM_000545.8(HNF1A):c.676A>G (p.Lys226Glu)
|
rs2499995670
|
|
NM_000545.8(HNF1A):c.685C>G (p.Arg229Gly)
|
rs769086289
|
|
NM_000545.8(HNF1A):c.694C>G (p.Leu232Val)
|
|
|
NM_000545.8(HNF1A):c.695T>C (p.Leu232Pro)
|
rs2135839880
|
|
NM_000545.8(HNF1A):c.696dup (p.Val233fs)
|
rs2135839892
|
|
NM_000545.8(HNF1A):c.697G>T (p.Val233Leu)
|
rs2135839897
|
|
NM_000545.8(HNF1A):c.700G>T (p.Glu234Ter)
|
|
|
NM_000545.8(HNF1A):c.709A>C (p.Asn237His)
|
rs2135839997
|
|
NM_000545.8(HNF1A):c.709A>G (p.Asn237Asp)
|
rs2135839997
|
|
NM_000545.8(HNF1A):c.710A>G (p.Asn237Ser)
|
rs1555211935
|
|
NM_000545.8(HNF1A):c.715G>A (p.Ala239Thr)
|
|
|
NM_000545.8(HNF1A):c.721T>C (p.Cys241Arg)
|
rs2135841104
|
|
NM_000545.8(HNF1A):c.721T>G (p.Cys241Gly)
|
rs2135841104
|
|
NM_000545.8(HNF1A):c.722_725dup (p.Ile242fs)
|
rs1555211975
|
|
NM_000545.8(HNF1A):c.737T>G (p.Val246Gly)
|
rs2135841238
|
|
NM_000545.8(HNF1A):c.769A>C (p.Asn257His)
|
rs2135841512
|
|
NM_000545.8(HNF1A):c.770A>C (p.Asn257Thr)
|
|
|
NM_000545.8(HNF1A):c.779C>A (p.Thr260Lys)
|
rs886039544
|
|
NM_000545.8(HNF1A):c.779C>G (p.Thr260Arg)
|
rs886039544
|
|
NM_000545.8(HNF1A):c.77T>C (p.Leu26Pro)
|
rs2135819552
|
|
NM_000545.8(HNF1A):c.781G>A (p.Glu261Lys)
|
rs2135841592
|
|
NM_000545.8(HNF1A):c.790G>T (p.Val264Phe)
|
rs193922604
|
|
NM_000545.8(HNF1A):c.790_791del (p.Val264fs)
|
rs1555211999
|
|
NM_000545.8(HNF1A):c.802T>A (p.Phe268Ile)
|
rs2135841769
|
|
NM_000545.8(HNF1A):c.802T>C (p.Phe268Leu)
|
rs2135841769
|
|
NM_000545.8(HNF1A):c.803T>C (p.Phe268Ser)
|
rs193922605
|
|
NM_000545.8(HNF1A):c.811C>G (p.Arg271Gly)
|
rs886039386
|
|
NM_000545.8(HNF1A):c.811del (p.Arg271fs)
|
rs2135841855
|
|
NM_000545.8(HNF1A):c.82C>T (p.Gln28Ter)
|
rs2135819583
|
|
NM_000545.8(HNF1A):c.864del (p.Pro291fs)
|
rs762703502
|
|
NM_000545.8(HNF1A):c.864dup (p.Pro289fs)
|
rs762703502
|
|
NM_000545.8(HNF1A):c.981del (p.Ser328fs)
|
rs2500001387
|
|
NM_000545.8(HNF1A):c.98C>T (p.Pro33Leu)
|
rs1001854457
|
|
NM_001080421.1(UNC13A):c.130G>T (p.Gly44Ter)
|
|
|
NM_001080421.1(UNC13A):c.152_153insG (p.Ala53Serfs)
|
|
|
NM_022895.3(C12orf43):c.*3089_*3099del
|
|
|
NM_173560.4(RFX6):c.2034dup (p.Ser679fs)
|
|
|
NM_175914.5(HNF4A):c.100del (p.Val34fs)
|
rs1555813267
|
|
NM_175914.5(HNF4A):c.1033G>C (p.Asp345His)
|
|
|
NM_175914.5(HNF4A):c.1033G>T (p.Asp345Tyr)
|
rs2515714792
|
|
NM_175914.5(HNF4A):c.1052T>G (p.Met351Arg)
|
rs137853338
|
|
NM_175914.5(HNF4A):c.1061del (p.Gly354fs)
|
|
|
NM_175914.5(HNF4A):c.1063G>C (p.Gly355Arg)
|
rs1568741527
|
|
NM_175914.5(HNF4A):c.124G>A (p.Gly42Arg)
|
rs769007443
|
|
NM_175914.5(HNF4A):c.125G>T (p.Gly42Val)
|
rs2515644510
|
|
NM_175914.5(HNF4A):c.1A>T (p.Met1Leu)
|
|
|
NM_175914.5(HNF4A):c.1del (p.Met1fs)
|
rs2146127577
|
|
NM_175914.5(HNF4A):c.221G>A (p.Cys74Tyr)
|
rs1555813342
|
|
NM_175914.5(HNF4A):c.270C>G (p.Cys90Trp)
|
|
|
NM_175914.5(HNF4A):c.278G>A (p.Cys93Tyr)
|
rs2515651025
|
|
NM_175914.5(HNF4A):c.281_282delinsC (p.Arg94fs)
|
rs193922471
|
|
NM_175914.5(HNF4A):c.2T>A (p.Met1Lys)
|
rs1229650809
|
|
NM_175914.5(HNF4A):c.2T>C (p.Met1Thr)
|
rs1229650809
|
|
NM_175914.5(HNF4A):c.304G>A (p.Gly102Ser)
|
rs2515651269
|
|
NM_175914.5(HNF4A):c.309G>A (p.Met103Ile)
|
rs2515651295
|
|
NM_175914.5(HNF4A):c.3G>A (p.Met1Ile)
|
rs2146127594
|
|
NM_175914.5(HNF4A):c.427-1G>A
|
rs1568731279
|
|
NM_175914.5(HNF4A):c.427-2A>G
|
rs2515679217
|
|
NM_175914.5(HNF4A):c.490dup (p.Asp164fs)
|
rs2515679836
|
|
NM_175914.5(HNF4A):c.498T>A (p.Cys166Ter)
|
rs1555815393
|
|
NM_175914.5(HNF4A):c.514C>T (p.Gln172Ter)
|
rs1555815396
|
|
NM_175914.5(HNF4A):c.553G>A (p.Ala185Thr)
|
rs193922474
|
|
NM_175914.5(HNF4A):c.575_582+10del
|
rs193922475
|
|
NM_175914.5(HNF4A):c.577G>T (p.Asp193Tyr)
|
rs768043933
|
|
NM_175914.5(HNF4A):c.582+1G>A
|
rs1392795567
|
|
NM_175914.5(HNF4A):c.582+1G>C
|
rs1392795567
|
|
NM_175914.5(HNF4A):c.660_662delinsTCAA (p.Leu221fs)
|
rs193922476
|
|
NM_175914.5(HNF4A):c.691C>T (p.Arg231Trp)
|
rs376013528
|
|
NM_175914.5(HNF4A):c.733C>G (p.Arg245Gly)
|
rs1290868034
|
|
NM_175914.5(HNF4A):c.734G>C (p.Arg245Pro)
|
|
|
NM_175914.5(HNF4A):c.778G>T (p.Asp260Tyr)
|
rs1236613475
|
|
NM_175914.5(HNF4A):c.787G>C (p.Glu263Gln)
|
rs1385142974
|
|
NM_175914.5(HNF4A):c.869G>C (p.Arg290Pro)
|
rs1191912908
|
|
NM_175914.5(HNF4A):c.869G>T (p.Arg290Leu)
|
rs1191912908
|
|
NM_175914.5(HNF4A):c.901A>T (p.Ile301Phe)
|
rs920346355
|
|
NM_175914.5(HNF4A):c.926G>T (p.Arg309Leu)
|
rs369429452
|
|
NM_175914.5(HNF4A):c.932G>T (p.Arg311Leu)
|
rs1375557127
|
|
NM_175914.5(HNF4A):c.938G>T (p.Gly313Val)
|
rs777290134
|
|
NM_175914.5(HNF4A):c.977C>T (p.Thr326Ile)
|
|
|
NM_175914.5(HNF4A):c.994C>T (p.Gln332Ter)
|
|
|