ClinVar Miner

List of variants reported as likely pathogenic for disorder of glycolysis

Included ClinVar conditions (69):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 719
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000545.8(HNF1A):c.79A>C (p.Ile27Leu) rs1169288 0.35489
NM_000209.4(PDX1):c.226G>A (p.Asp76Asn) rs137852783 0.00320
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695 0.00270
NM_001358263.1(HK1):c.75+20082A>G rs187500777 0.00198
NM_000290.4(PGAM2):c.233G>A (p.Trp78Ter) rs10250779 0.00166
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp) rs137853247 0.00076
NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln) rs137853242 0.00060
NM_000207.3(INS):c.-153C>G rs915076855 0.00019
NM_053013.4(ENO3):c.467G>A (p.Gly156Asp) rs121918403 0.00019
NM_175914.5(HNF4A):c.724G>A (p.Val242Met) rs139779712 0.00019
NM_000365.6(TPI1):c.315G>C (p.Glu105Asp) rs121964845 0.00012
NM_194436.3(LDHD):c.1319C>T (p.Thr440Met) rs764877688 0.00012
NM_000290.4(PGAM2):c.266A>C (p.Glu89Ala) rs104894030 0.00007
NM_000289.6(PFKM):c.237+1G>A rs202143236 0.00006
NM_000545.8(HNF1A):c.1061C>T (p.Thr354Met) rs757068809 0.00006
NM_000175.5(GPI):c.671C>T (p.Thr224Met) rs61754634 0.00005
NM_000175.5(GPI):c.1336C>T (p.Arg446Ter) rs774419705 0.00004
NM_000289.6(PFKM):c.298C>T (p.Arg100Ter) rs374547385 0.00004
NM_000352.6(ABCC8):c.62T>A (p.Val21Asp) rs200670692 0.00004
NM_000525.4(KCNJ11):c.844G>A (p.Glu282Lys) rs267607196 0.00003
NM_000545.8(HNF1A):c.467C>T (p.Thr156Met) rs150513055 0.00003
NM_000545.8(HNF1A):c.827C>G (p.Ala276Gly) rs137853245 0.00003
NM_175914.5(HNF4A):c.1097C>G (p.Pro366Arg) rs193922469 0.00003
NM_000545.8(HNF1A):c.29C>T (p.Thr10Met) rs774637975 0.00002
NM_000162.5(GCK):c.1042A>T (p.Ile348Phe) rs193922260 0.00001
NM_000162.5(GCK):c.1324G>A (p.Glu442Lys) rs758737171 0.00001
NM_000162.5(GCK):c.1364T>A (p.Val455Glu) rs753795627 0.00001
NM_000162.5(GCK):c.370G>A (p.Asp124Asn) rs759072800 0.00001
NM_000162.5(GCK):c.571C>T (p.Arg191Trp) rs1085307455 0.00001
NM_000162.5(GCK):c.622G>A (p.Ala208Thr) rs1476637197 0.00001
NM_000162.5(GCK):c.676G>A (p.Val226Met) rs148311934 0.00001
NM_000162.5(GCK):c.787T>C (p.Ser263Pro) rs193922331 0.00001
NM_000162.5(GCK):c.908G>A (p.Arg303Gln) rs1312678560 0.00001
NM_000162.5(GCK):c.952G>T (p.Gly318Trp) rs193922340 0.00001
NM_000175.5(GPI):c.1009G>A (p.Ala337Thr) rs1238884216 0.00001
NM_000175.5(GPI):c.1574T>C (p.Ile525Thr) rs137853584 0.00001
NM_000175.5(GPI):c.1648A>G (p.Lys550Glu) rs933668811 0.00001
NM_000207.3(INS):c.1A>G (p.Met1Val) rs757124361 0.00001
NM_000209.4(PDX1):c.651del (p.Gly218fs) rs776610329 0.00001
NM_000209.4(PDX1):c.773A>G (p.Glu258Gly) rs193922360 0.00001
NM_000289.6(PFKM):c.1127G>A (p.Arg376Gln) rs187131358 0.00001
NM_000289.6(PFKM):c.1191+1G>A rs746348793 0.00001
NM_000289.6(PFKM):c.1294C>T (p.Arg432Ter) rs41291965 0.00001
NM_000289.6(PFKM):c.1413-2A>G rs1430517061 0.00001
NM_000289.6(PFKM):c.1500+1G>A rs770066278 0.00001
NM_000289.6(PFKM):c.936+1G>A rs1949974650 0.00001
NM_000291.4(PGK1):c.758T>C (p.Ile253Thr) rs137852534 0.00001
NM_000298.6(PKLR):c.1082A>C (p.Asn361Thr) rs1358047518 0.00001
NM_000298.6(PKLR):c.1178A>G (p.Asn393Ser) rs776594413 0.00001
NM_000298.6(PKLR):c.1277G>A (p.Arg426Gln) rs768002493 0.00001
NM_000352.6(ABCC8):c.1332G>T (p.Gln444His) rs760062120 0.00001
NM_000352.6(ABCC8):c.3544C>T (p.Arg1182Trp) rs797045209 0.00001
NM_000352.6(ABCC8):c.3784G>A (p.Ala1262Thr) rs1266053680 0.00001
NM_000352.6(ABCC8):c.4306C>T (p.Arg1436Ter) rs193922402 0.00001
NM_000352.6(ABCC8):c.4432G>A (p.Gly1478Arg) rs72559715 0.00001
NM_000352.6(ABCC8):c.742C>T (p.Arg248Ter) rs72559730 0.00001
NM_000352.6(ABCC8):c.928G>A (p.Asp310Asn) rs769569410 0.00001
NM_000525.4(KCNJ11):c.100C>T (p.Arg34Cys) rs954727530 0.00001
NM_000525.4(KCNJ11):c.101G>A (p.Arg34His) rs141145502 0.00001
NM_000525.4(KCNJ11):c.406C>T (p.Arg136Cys) rs766891274 0.00001
NM_000525.4(KCNJ11):c.560C>T (p.Ala187Val) rs1371185696 0.00001
NM_000525.4(KCNJ11):c.881C>T (p.Thr294Met) rs780957825 0.00001
NM_000525.4(KCNJ11):c.902G>A (p.Arg301His) rs74339576 0.00001
NM_000545.8(HNF1A):c.1243G>A (p.Gly415Arg) rs368683806 0.00001
NM_000545.8(HNF1A):c.1501G>A (p.Ala501Thr) rs371807951 0.00001
NM_000545.8(HNF1A):c.1556C>T (p.Pro519Leu) rs749673816 0.00001
NM_000545.8(HNF1A):c.1663C>T (p.Leu555Phe) rs193922587 0.00001
NM_000545.8(HNF1A):c.50T>A (p.Leu17His) rs1480672278 0.00001
NM_000545.8(HNF1A):c.599G>A (p.Arg200Gln) rs893256143 0.00001
NM_000545.8(HNF1A):c.608G>A (p.Arg203His) rs587780357 0.00001
NM_000545.8(HNF1A):c.626C>A (p.Ala209Glu) rs1286294151 0.00001
NM_000545.8(HNF1A):c.812G>A (p.Arg271Gln) rs779184183 0.00001
NM_001358263.1(HK1):c.19C>T (p.Arg7Ter) rs779250530 0.00001
NM_001807.6(CEL):c.703C>T (p.Arg235Ter) rs778611627 0.00001
NM_175914.5(HNF4A):c.1198C>T (p.Arg400Ter) rs1413742263 0.00001
NM_175914.5(HNF4A):c.322G>A (p.Val108Ile) rs377476335 0.00001
NM_175914.5(HNF4A):c.625G>A (p.Gly209Arg) rs1469544671 0.00001
NM_175914.5(HNF4A):c.733C>T (p.Arg245Cys) rs1290868034 0.00001
NM_175914.5(HNF4A):c.925C>T (p.Arg309Cys) rs193922479 0.00001
NM_175914.5(HNF4A):c.926G>A (p.Arg309His) rs369429452 0.00001
GRCh37/hg19 16p11.2(chr16:29624260-29874118)x3
HNF4A deletion
NM_000162.5(GCK):c.1002_1003delinsAA (p.Phe334_Val335delinsLeuMet) rs193922252
NM_000162.5(GCK):c.1003_1004insAA (p.Val335fs) rs193922253
NM_000162.5(GCK):c.1017G>C (p.Glu339Asp) rs954171452
NM_000162.5(GCK):c.1018A>G (p.Ser340Gly) rs193922255
NM_000162.5(GCK):c.1019+20G>A
NM_000162.5(GCK):c.1019G>A (p.Ser340Asn) rs1376631949
NM_000162.5(GCK):c.1019G>C (p.Ser340Thr)
NM_000162.5(GCK):c.1020-1G>A rs193922258
NM_000162.5(GCK):c.1020-1G>C rs193922258
NM_000162.5(GCK):c.102G>A (p.Met34Ile) rs2096283252
NM_000162.5(GCK):c.1030G>T (p.Asp344Tyr) rs864321656
NM_000162.5(GCK):c.1031_1034dup (p.Lys346fs) rs1583592247
NM_000162.5(GCK):c.103A>T (p.Arg35Ter) rs193922259
NM_000162.5(GCK):c.1064T>C (p.Leu355Pro) rs1583592156
NM_000162.5(GCK):c.1079C>A (p.Ser360Ter) rs2128819357
NM_000162.5(GCK):c.107G>C (p.Arg36Pro) rs193922261
NM_000162.5(GCK):c.1087G>A (p.Asp363Asn) rs1064793134
NM_000162.5(GCK):c.1114G>T (p.Glu372Ter) rs193922262
NM_000162.5(GCK):c.1124C>T (p.Ser375Phe) rs193922263
NM_000162.5(GCK):c.1130G>A (p.Arg377His) rs193922264
NM_000162.5(GCK):c.1130_1138del (p.Arg377_Ala379del) rs1131691505
NM_000162.5(GCK):c.1136C>A (p.Ala379Glu) rs193922265
NM_000162.5(GCK):c.113A>C (p.Gln38Pro) rs1064794268
NM_000162.5(GCK):c.1144T>C (p.Cys382Arg) rs1554334613
NM_000162.5(GCK):c.1145G>C (p.Cys382Ser)
NM_000162.5(GCK):c.1148C>T (p.Ser383Leu) rs777870079
NM_000162.5(GCK):c.1148del (p.Ser383fs) rs2096271597
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.1155del (p.Leu386fs) rs1400535021
NM_000162.5(GCK):c.1157T>C (p.Leu386Pro) rs193922268
NM_000162.5(GCK):c.115_117del (p.Lys39del) rs2096283216
NM_000162.5(GCK):c.1160C>A (p.Ala387Glu) rs193921338
NM_000162.5(GCK):c.1160C>T (p.Ala387Val) rs193921338
NM_000162.5(GCK):c.1163dup (p.Val389fs) rs886042015
NM_000162.5(GCK):c.1169T>A (p.Ile390Asn) rs193921340
NM_000162.5(GCK):c.1169T>C (p.Ile390Thr) rs193921340
NM_000162.5(GCK):c.116_123dup (p.Asp42fs)
NM_000162.5(GCK):c.1173C>A (p.Asn391Lys) rs1554334579
NM_000162.5(GCK):c.1174C>T (p.Arg392Cys) rs1167124132
NM_000162.5(GCK):c.1175G>T (p.Arg392Leu) rs193922269
NM_000162.5(GCK):c.1178T>C (p.Met393Thr) rs2096271425
NM_000162.5(GCK):c.1186_1187dup (p.Ser396fs)
NM_000162.5(GCK):c.118G>A (p.Glu40Lys) rs794727236
NM_000162.5(GCK):c.1190G>A (p.Arg397His) rs193929375
NM_000162.5(GCK):c.1190_1253+11dup
NM_000162.5(GCK):c.1225G>T (p.Asp409Tyr)
NM_000162.5(GCK):c.122T>G (p.Met41Arg)
NM_000162.5(GCK):c.122_123insAGGAGATG (p.Met41fs)
NM_000162.5(GCK):c.1232C>T (p.Ser411Phe)
NM_000162.5(GCK):c.1235T>G (p.Val412Gly) rs1554334539
NM_000162.5(GCK):c.1240A>G (p.Lys414Glu) rs193922272
NM_000162.5(GCK):c.1247A>C (p.His416Pro) rs1583591303
NM_000162.5(GCK):c.1251del (p.Ser418fs) rs2128819092
NM_000162.5(GCK):c.1253+2T>G rs1057524902
NM_000162.5(GCK):c.1255T>C (p.Phe419Leu) rs1554334478
NM_000162.5(GCK):c.1260G>T (p.Lys420Asn)
NM_000162.5(GCK):c.1264C>T (p.Arg422Trp)
NM_000162.5(GCK):c.1265G>C (p.Arg422Pro) rs1010302320
NM_000162.5(GCK):c.1268T>A (p.Phe423Tyr) rs193922273
NM_000162.5(GCK):c.1279_1358delinsTTACA (p.Val427_Ser453delinsLeuGln) rs193922274
NM_000162.5(GCK):c.1280_1283dup (p.Arg429fs) rs2096270699
NM_000162.5(GCK):c.1283_1284del (p.Arg428fs) rs193922275
NM_000162.5(GCK):c.1284_1362del (p.Arg429fs) rs2096270423
NM_000162.5(GCK):c.1289T>C (p.Leu430Pro) rs193922277
NM_000162.5(GCK):c.128G>A (p.Arg43His) rs764232985
NM_000162.5(GCK):c.1297_1300dup (p.Cys434Ter)
NM_000162.5(GCK):c.1303_1306dup (p.Ile436fs)
NM_000162.5(GCK):c.1305dup (p.Ile436fs)
NM_000162.5(GCK):c.1307T>A (p.Ile436Asn) rs193922278
NM_000162.5(GCK):c.1307_1319del (p.Ile436fs)
NM_000162.5(GCK):c.1312T>G (p.Phe438Val) rs2128818820
NM_000162.5(GCK):c.131G>A (p.Gly44Asp) rs193922279
NM_000162.5(GCK):c.1322C>T (p.Ser441Leu) rs1286804191
NM_000162.5(GCK):c.1332del (p.Ser445fs) rs193922280
NM_000162.5(GCK):c.1339C>G (p.Arg447Gly) rs193922281
NM_000162.5(GCK):c.1340G>A (p.Arg447Gln) rs1131691416
NM_000162.5(GCK):c.1340G>C (p.Arg447Pro) rs1131691416
NM_000162.5(GCK):c.1345G>A (p.Ala449Thr) rs193922282
NM_000162.5(GCK):c.1358C>G (p.Ser453Trp)
NM_000162.5(GCK):c.1358C>T (p.Ser453Leu) rs193922283
NM_000162.5(GCK):c.1372_1373del (p.Lys458fs) rs193922284
NM_000162.5(GCK):c.146C>A (p.Thr49Asn) rs193922286
NM_000162.5(GCK):c.148C>T (p.His50Tyr) rs1562719705
NM_000162.5(GCK):c.148dup (p.His50fs) rs886041690
NM_000162.5(GCK):c.150dup (p.Glu51Ter)
NM_000162.5(GCK):c.171G>A (p.Met57Ile) rs1057520109
NM_000162.5(GCK):c.175C>T (p.Pro59Ser) rs193922287
NM_000162.5(GCK):c.207A>G (p.Ser69=) rs779548342
NM_000162.5(GCK):c.208+15C>G
NM_000162.5(GCK):c.208+2T>C rs2128823089
NM_000162.5(GCK):c.208G>A (p.Glu70Lys) rs2128823091
NM_000162.5(GCK):c.208G>C (p.Glu70Gln)
NM_000162.5(GCK):c.214G>A (p.Gly72Arg) rs193922289
NM_000162.5(GCK):c.242G>A (p.Gly81Asp)
NM_000162.5(GCK):c.245C>T (p.Thr82Ile)
NM_000162.5(GCK):c.253A>T (p.Arg85Trp) rs193922290
NM_000162.5(GCK):c.269A>C (p.Lys90Thr) rs2128822695
NM_000162.5(GCK):c.291del (p.Gln98fs) rs1562719029
NM_000162.5(GCK):c.295del (p.Trp99fs) rs1554335752
NM_000162.5(GCK):c.304A>T (p.Lys102Ter) rs193922291
NM_000162.5(GCK):c.316C>T (p.Gln106Ter) rs2096281702
NM_000162.5(GCK):c.317A>C (p.Gln106Pro)
NM_000162.5(GCK):c.317_333del (p.Gln106fs) rs797045595
NM_000162.5(GCK):c.322T>G (p.Tyr108Asp) rs193922292
NM_000162.5(GCK):c.351_358del (p.Thr118fs)
NM_000162.5(GCK):c.359dup (p.Met121fs) rs2128822614
NM_000162.5(GCK):c.364-1G>A rs1057521094
NM_000162.5(GCK):c.364C>A (p.Leu122Ile) rs1554335616
NM_000162.5(GCK):c.371A>T (p.Asp124Val) rs1554335612
NM_000162.5(GCK):c.386G>A (p.Cys129Tyr) rs2128822108
NM_000162.5(GCK):c.391T>C (p.Ser131Pro) rs104894010
NM_000162.5(GCK):c.393del (p.Asp132fs) rs193922295
NM_000162.5(GCK):c.397T>C (p.Phe133Leu) rs2128822093
NM_000162.5(GCK):c.431del (p.Leu144fs) rs1064796410
NM_000162.5(GCK):c.440del (p.Gly147fs) rs1554335585
NM_000162.5(GCK):c.449T>C (p.Phe150Ser) rs193922297
NM_000162.5(GCK):c.455T>C (p.Phe152Ser)
NM_000162.5(GCK):c.457C>T (p.Pro153Ser) rs193922300
NM_000162.5(GCK):c.46-2A>G rs1554335966
NM_000162.5(GCK):c.461T>C (p.Val154Ala)
NM_000162.5(GCK):c.463A>G (p.Arg155Gly) rs193922301
NM_000162.5(GCK):c.466C>T (p.His156Tyr) rs1562718043
NM_000162.5(GCK):c.469G>A (p.Glu157Lys) rs1554335570
NM_000162.5(GCK):c.475A>G (p.Ile159Val) rs1319364468
NM_000162.5(GCK):c.476T>A (p.Ile159Asn)
NM_000162.5(GCK):c.482A>G (p.Lys161Arg)
NM_000162.5(GCK):c.483+2T>C rs1554335564
NM_000162.5(GCK):c.483+2_483+16del rs1583601110
NM_000162.5(GCK):c.483G>A (p.Lys161=) rs193922302
NM_000162.5(GCK):c.484-11_484-6del
NM_000162.5(GCK):c.485G>A (p.Gly162Asp) rs1170194230
NM_000162.5(GCK):c.491T>C (p.Leu164Pro) rs2096278847
NM_000162.5(GCK):c.499T>G (p.Trp167Gly) rs1481197092
NM_000162.5(GCK):c.509G>T (p.Gly170Val) rs193922303
NM_000162.5(GCK):c.523G>A (p.Gly175Arg) rs587780344
NM_000162.5(GCK):c.524G>C (p.Gly175Ala) rs2128821624
NM_000162.5(GCK):c.527C>G (p.Ala176Gly) rs193922304
NM_000162.5(GCK):c.52C>T (p.Gln18Ter) rs1300199281
NM_000162.5(GCK):c.532G>A (p.Gly178Arg) rs193922305
NM_000162.5(GCK):c.540T>G (p.Asn180Lys) rs1554335444
NM_000162.5(GCK):c.542T>C (p.Val181Ala) rs193922306
NM_000162.5(GCK):c.554T>C (p.Leu185Pro)
NM_000162.5(GCK):c.554T>G (p.Leu185Arg) rs1583599749
NM_000162.5(GCK):c.566T>C (p.Ile189Thr) rs1554335441
NM_000162.5(GCK):c.579+4del
NM_000162.5(GCK):c.579G>T (p.Gly193=) rs2128821570
NM_000162.5(GCK):c.57C>G (p.Ile19Met) rs193922308
NM_000162.5(GCK):c.580-1G>C
NM_000162.5(GCK):c.587A>G (p.Glu196Gly) rs193922309
NM_000162.5(GCK):c.601G>T (p.Ala201Ser) rs794727775
NM_000162.5(GCK):c.604A>G (p.Met202Val) rs193922310
NM_000162.5(GCK):c.612T>A (p.Asn204Lys)
NM_000162.5(GCK):c.614A>G (p.Asp205Gly) rs2128821509
NM_000162.5(GCK):c.614A>T (p.Asp205Val) rs2128821509
NM_000162.5(GCK):c.615C>G (p.Asp205Glu) rs193922312
NM_000162.5(GCK):c.616A>C (p.Thr206Pro) rs587780346
NM_000162.5(GCK):c.623C>T (p.Ala208Val) rs746913146
NM_000162.5(GCK):c.626C>T (p.Thr209Met) rs1583599303
NM_000162.5(GCK):c.627GAT[3] (p.Met210_Ile211insMet)
NM_000162.5(GCK):c.629T>C (p.Met210Thr) rs80356654
NM_000162.5(GCK):c.630G>T (p.Met210Ile) rs193922313
NM_000162.5(GCK):c.635_637del (p.Ser212del) rs193922314
NM_000162.5(GCK):c.641dup (p.Tyr214Ter) rs2128821490
NM_000162.5(GCK):c.645C>A (p.Tyr215Ter) rs144723656
NM_000162.5(GCK):c.658T>C (p.Cys220Arg) rs193922315
NM_000162.5(GCK):c.659G>A (p.Cys220Tyr) rs193922316
NM_000162.5(GCK):c.660C>A (p.Cys220Ter) rs142952813
NM_000162.5(GCK):c.666del (p.Gly223fs) rs2096278285
NM_000162.5(GCK):c.671T>C (p.Met224Thr) rs2128821476
NM_000162.5(GCK):c.677T>C (p.Val226Ala) rs193922319
NM_000162.5(GCK):c.677T>G (p.Val226Gly)
NM_000162.5(GCK):c.678_679+2del rs1554335391
NM_000162.5(GCK):c.679+1del rs193922320
NM_000162.5(GCK):c.679+5G>A
NM_000162.5(GCK):c.679G>C (p.Gly227Arg)
NM_000162.5(GCK):c.680-15C>A rs369345791
NM_000162.5(GCK):c.680-1G>A rs1057524905
NM_000162.5(GCK):c.680-2A>G rs1562715657
NM_000162.5(GCK):c.688T>C (p.Cys230Arg) rs794727839
NM_000162.5(GCK):c.694G>A (p.Ala232Thr) rs193922322
NM_000162.5(GCK):c.701A>G (p.Tyr234Cys) rs1562715620
NM_000162.5(GCK):c.704T>C (p.Met235Thr) rs193922323
NM_000162.5(GCK):c.718A>G (p.Asn240Asp) rs1562715574
NM_000162.5(GCK):c.731T>A (p.Val244Glu)
NM_000162.5(GCK):c.731T>G (p.Val244Gly)
NM_000162.5(GCK):c.748C>T (p.Arg250Cys) rs1057524904
NM_000162.5(GCK):c.74T>G (p.Leu25Arg) rs193922325
NM_000162.5(GCK):c.752T>C (p.Met251Thr) rs193922326
NM_000162.5(GCK):c.753G>A (p.Met251Ile)
NM_000162.5(GCK):c.758T>C (p.Val253Ala) rs193921400
NM_000162.5(GCK):c.758T>G (p.Val253Gly) rs193921400
NM_000162.5(GCK):c.760A>C (p.Asn254His) rs193922327
NM_000162.5(GCK):c.768G>C (p.Glu256Asp) rs193922328
NM_000162.5(GCK):c.769T>C (p.Trp257Arg) rs1554335135
NM_000162.5(GCK):c.76C>T (p.Gln26Ter) rs193922329
NM_000162.5(GCK):c.771G>A (p.Trp257Ter) rs2128820597
NM_000162.5(GCK):c.776C>T (p.Ala259Val) rs1554335132
NM_000162.5(GCK):c.779T>C (p.Phe260Ser) rs193922330
NM_000162.5(GCK):c.781G>A (p.Gly261Arg) rs104894008
NM_000162.5(GCK):c.785dup (p.Asp262fs)
NM_000162.5(GCK):c.812T>C (p.Leu271Pro) rs193922332
NM_000162.5(GCK):c.824G>T (p.Arg275Leu) rs767565869
NM_000162.5(GCK):c.833A>T (p.Asp278Val) rs193922333
NM_000162.5(GCK):c.863+1G>A rs1376796469
NM_000162.5(GCK):c.863+3A>G rs193922334
NM_000162.5(GCK):c.863+5G>A
NM_000162.5(GCK):c.866A>G (p.Tyr289Cys)
NM_000162.5(GCK):c.868G>A (p.Glu290Lys) rs1487194256
NM_000162.5(GCK):c.871A>T (p.Lys291Ter) rs193922335
NM_000162.5(GCK):c.878T>C (p.Ile293Thr) rs2128820046
NM_000162.5(GCK):c.878T>G (p.Ile293Arg)
NM_000162.5(GCK):c.881G>T (p.Gly294Val)
NM_000162.5(GCK):c.883G>A (p.Gly295Ser) rs1554334905
NM_000162.5(GCK):c.89T>C (p.Leu30Pro) rs876661320
NM_000162.5(GCK):c.907C>T (p.Arg303Trp) rs193922336
NM_000162.5(GCK):c.911T>C (p.Leu304Pro) rs1554334894
NM_000162.5(GCK):c.914T>G (p.Val305Gly) rs2096273846
NM_000162.5(GCK):c.917T>A (p.Leu306Gln) rs193922337
NM_000162.5(GCK):c.917T>C (p.Leu306Pro) rs193922337
NM_000162.5(GCK):c.91AAG[1] (p.Lys32del)
NM_000162.5(GCK):c.941T>G (p.Leu314Arg) rs1554334886
NM_000162.5(GCK):c.947T>A (p.Phe316Tyr) rs193922339
NM_000162.5(GCK):c.989T>C (p.Phe330Ser) rs1554334872
NM_000162.5(GCK):c.98T>A (p.Val33Glu) rs1554335954
NM_000162.5(GCK):c.98T>C (p.Val33Ala) rs1554335954
NM_000162.5(GCK):c.995C>T (p.Thr332Met) rs770231054
NM_000175.5(GPI):c.1040G>A (p.Arg347His) rs137853583
NM_000175.5(GPI):c.1269+1G>A
NM_000175.5(GPI):c.1498_1501del (p.Val500fs)
NM_000175.5(GPI):c.804+1_804+2del
NM_000175.5(GPI):c.812del (p.Gly271fs) rs2145419704
NM_000175.5(GPI):c.937_952dup (p.Val318fs)
NM_000188.3(HK1):c.1252A>G (p.Lys418Glu) rs1564557037
NM_000188.3(HK1):c.1354G>C (p.Gly452Arg) rs2132884703
NM_000188.3(HK1):c.1370C>T (p.Thr457Met) rs1057517928
NM_000188.3(HK1):c.271C>T (p.Arg91Ter)
NM_000207.3(INS):c.115C>T (p.Leu39Phe) rs2133676660
NM_000207.3(INS):c.125T>C (p.Val42Ala) rs886037863
NM_000207.3(INS):c.26C>G (p.Pro9Arg) rs1564912403
NM_000207.3(INS):c.290C>G (p.Thr97Ser) rs1564911425
NM_000207.3(INS):c.308A>G (p.Tyr103Cys) rs121908277
NM_000209.4(PDX1):c.188del (p.Pro63fs) rs193929377
NM_000209.4(PDX1):c.217del (p.Leu73fs)
NM_000209.4(PDX1):c.442C>G (p.Arg148Gly) rs193922355
NM_000209.4(PDX1):c.502A>C (p.Asn168His) rs1555241857
NM_000209.4(PDX1):c.571A>C (p.Lys191Gln) rs193922356
NM_000209.4(PDX1):c.671_672dup (p.Gln225fs)
NM_000209.4(PDX1):c.735dup (p.Gly246fs)
NM_000289.6(PFKM):c.-8-2A>G
NM_000289.6(PFKM):c.1042del (p.Leu348fs)
NM_000289.6(PFKM):c.1062+1G>A
NM_000289.6(PFKM):c.1062+2T>C rs2135957798
NM_000289.6(PFKM):c.1127+1G>T rs2135976459
NM_000289.6(PFKM):c.1128-2A>G
NM_000289.6(PFKM):c.1145G>A (p.Trp382Ter)
NM_000289.6(PFKM):c.115C>T (p.Arg39Ter) rs1064795749
NM_000289.6(PFKM):c.116G>A (p.Arg39Gln)
NM_000289.6(PFKM):c.116G>C (p.Arg39Pro) rs121918193
NM_000289.6(PFKM):c.1192-2A>G
NM_000289.6(PFKM):c.1199C>A (p.Ser400Ter)
NM_000289.6(PFKM):c.1227_1228del (p.Ala410fs)
NM_000289.6(PFKM):c.1280_1290del (p.Leu427fs)
NM_000289.6(PFKM):c.1282dup (p.Ile428fs)
NM_000289.6(PFKM):c.1321G>T (p.Glu441Ter)
NM_000289.6(PFKM):c.1338del (p.Gln447fs) rs2135995131
NM_000289.6(PFKM):c.1341+1G>A
NM_000289.6(PFKM):c.1341+1G>C
NM_000289.6(PFKM):c.1342-1G>C
NM_000289.6(PFKM):c.1358G>A (p.Trp453Ter)
NM_000289.6(PFKM):c.1385_1386insTCCTGCTATAG (p.Gln462fs)
NM_000289.6(PFKM):c.1412+1G>T
NM_000289.6(PFKM):c.1412+2T>C
NM_000289.6(PFKM):c.1413-64A>G rs1202417178
NM_000289.6(PFKM):c.1459A>T (p.Lys487Ter)
NM_000289.6(PFKM):c.1459_1463del (p.Thr486_Lys487insTer)
NM_000289.6(PFKM):c.1493del (p.Gly498fs)
NM_000289.6(PFKM):c.1500+2T>A
NM_000289.6(PFKM):c.1501-2del rs1410122696
NM_000289.6(PFKM):c.159+1G>T rs1305706304
NM_000289.6(PFKM):c.160-1G>C
NM_000289.6(PFKM):c.1607del (p.Gly535_Ser536insTer) rs866260025
NM_000289.6(PFKM):c.1614dup (p.Ser539fs)
NM_000289.6(PFKM):c.1620_1625delinsGGGGG (p.Ala542fs)
NM_000289.6(PFKM):c.1653+2T>G
NM_000289.6(PFKM):c.166C>T (p.Gln56Ter)
NM_000289.6(PFKM):c.1717_1718del (p.Met573fs)
NM_000289.6(PFKM):c.1721del (p.Gly574fs)
NM_000289.6(PFKM):c.1734_1735del (p.Tyr579fs)
NM_000289.6(PFKM):c.1772A>C (p.Asp591Ala)
NM_000289.6(PFKM):c.1807C>T (p.Arg603Ter)
NM_000289.6(PFKM):c.184G>T (p.Gly62Ter)
NM_000289.6(PFKM):c.1859_1860del (p.Val620fs)
NM_000289.6(PFKM):c.1876_1877del (p.Leu626fs)
NM_000289.6(PFKM):c.1876_1880+2del
NM_000289.6(PFKM):c.1905T>A (p.Tyr635Ter)
NM_000289.6(PFKM):c.1992+1G>T
NM_000289.6(PFKM):c.2047_2092+14del
NM_000289.6(PFKM):c.204_207delinsTG (p.Thr69fs)
NM_000289.6(PFKM):c.2080_2081del (p.Ser694fs) rs1233958453
NM_000289.6(PFKM):c.2092+2T>C
NM_000289.6(PFKM):c.2175del (p.Glu725fs)
NM_000289.6(PFKM):c.238-3A>G
NM_000289.6(PFKM):c.283C>T (p.Arg95Ter) rs121918195
NM_000289.6(PFKM):c.31dup (p.Thr11fs)
NM_000289.6(PFKM):c.395G>A (p.Trp132Ter)
NM_000289.6(PFKM):c.399_400del (p.Ser133fs)
NM_000289.6(PFKM):c.420del (p.Ala142fs)
NM_000289.6(PFKM):c.465_466del (p.Leu156fs)
NM_000289.6(PFKM):c.491_500del (p.Ser164fs)
NM_000289.6(PFKM):c.539C>G (p.Ser180Cys)
NM_000289.6(PFKM):c.582del (p.Thr195fs)
NM_000289.6(PFKM):c.594-1G>A
NM_000289.6(PFKM):c.626G>A (p.Gly209Asp)
NM_000289.6(PFKM):c.631dup (p.His211fs)
NM_000289.6(PFKM):c.638+1G>T
NM_000289.6(PFKM):c.702dup (p.Pro235fs)
NM_000289.6(PFKM):c.736C>T (p.Arg246Ter) rs866904446
NM_000289.6(PFKM):c.779_783delinsC (p.Ile260fs)
NM_000289.6(PFKM):c.811G>T (p.Gly271Ter)
NM_000289.6(PFKM):c.85+1G>A
NM_000289.6(PFKM):c.851_852del (p.Val284fs)
NM_000289.6(PFKM):c.86-1G>C
NM_000289.6(PFKM):c.867T>A (p.Tyr289Ter)
NM_000289.6(PFKM):c.877dup (p.Val293fs)
NM_000289.6(PFKM):c.936+2T>G
NM_000290.4(PGAM2):c.533del (p.Gly178fs) rs747947171
NM_000291.4(PGK1):c.1114G>A (p.Gly372Ser) rs727504084
NM_000291.4(PGK1):c.150C>G (p.Cys50Trp) rs2149132078
NM_000298.6(PKLR):c.1015G>A (p.Asp339Asn) rs747097960
NM_000298.6(PKLR):c.1022G>C (p.Gly341Ala)
NM_000298.6(PKLR):c.1067T>G (p.Met356Arg) rs752423472
NM_000298.6(PKLR):c.1076G>C (p.Arg359Pro)
NM_000298.6(PKLR):c.1373G>A (p.Gly458Asp) rs755522396
NM_000298.6(PKLR):c.1411A>T (p.Ile471Phe)
NM_000298.6(PKLR):c.1417G>A (p.Val473Met)
NM_000298.6(PKLR):c.1461C>A (p.Tyr487Ter)
NM_000298.6(PKLR):c.1492C>A (p.Arg498Ser)
NM_000298.6(PKLR):c.1511G>A (p.Arg504His) rs185753709
NM_000298.6(PKLR):c.1511G>T (p.Arg504Leu)
NM_000298.6(PKLR):c.1591C>A (p.Arg531Ser) rs1674554041
NM_000298.6(PKLR):c.1618+1G>A
NM_000298.6(PKLR):c.224T>C (p.Leu75Pro) rs2148218886
NM_000298.6(PKLR):c.391_393del (p.Ile131del) rs886045351
NM_000298.6(PKLR):c.68T>G (p.Leu23Ter)
NM_000298.6(PKLR):c.754G>A (p.Val252Met)
NM_000298.6(PKLR):c.823G>C (p.Gly275Arg)
NM_000298.6(PKLR):c.829G>T (p.Glu277Ter)
NM_000298.6(PKLR):c.914G>A (p.Gly305Glu)
NM_000298.6(PKLR):c.958G>A (p.Val320Met)
NM_000298.6(PKLR):c.965+1G>A
NM_000352.6(ABCC8):c.1616A>G (p.Tyr539Cys) rs193922397
NM_000352.6(ABCC8):c.1647del (p.Ile550fs) rs2133554613
NM_000352.6(ABCC8):c.2093_2095del (p.Asn698del)
NM_000352.6(ABCC8):c.290+2T>C rs1554948310
NM_000352.6(ABCC8):c.338C>T (p.Ala113Val) rs2133711315
NM_000352.6(ABCC8):c.4055G>C (p.Arg1352Pro) rs28936370
NM_000352.6(ABCC8):c.4265C>G (p.Ser1422Cys) rs1554904936
NM_000352.6(ABCC8):c.4383_4384dup (p.Val1462fs)
NM_000352.6(ABCC8):c.45C>G (p.Tyr15Ter) rs758231286
NM_000352.6(ABCC8):c.4615G>A (p.Val1539Met) rs193922408
NM_000365.6(TPI1):c.32del (p.Gly11fs)
NM_000365.6(TPI1):c.544-1G>C rs2138094606
NM_000458.4(HNF1B):c.1006C>T (p.His336Tyr)
NM_000458.4(HNF1B):c.1006dup (p.His336fs) rs1598840795
NM_000458.4(HNF1B):c.1007A>G (p.His336Arg)
NM_000458.4(HNF1B):c.1009dup (p.His337fs) rs1598840773
NM_000458.4(HNF1B):c.1024T>C (p.Ser342Pro)
NM_000458.4(HNF1B):c.1045+2_1045+16del
NM_000458.4(HNF1B):c.1055A>G (p.Tyr352Cys)
NM_000458.4(HNF1B):c.110dup (p.Asn38fs) rs1598854747
NM_000458.4(HNF1B):c.1130_1131del (p.Ser377fs) rs2147473703
NM_000458.4(HNF1B):c.121del (p.Gly40_Val41insTer) rs1555833144
NM_000458.4(HNF1B):c.1235dup (p.Val413fs) rs1598809747
NM_000458.4(HNF1B):c.1253A>C (p.Asn418Thr)
NM_000458.4(HNF1B):c.1253A>T (p.Asn418Ile)
NM_000458.4(HNF1B):c.1258dup (p.His420fs) rs1598809697
NM_000458.4(HNF1B):c.1282C>T (p.Gln428Ter) rs2032692897
NM_000458.4(HNF1B):c.1310C>T (p.Pro437Leu)
NM_000458.4(HNF1B):c.1325T>C (p.Met442Thr)
NM_000458.4(HNF1B):c.1340-3C>G rs2032559501
NM_000458.4(HNF1B):c.1351T>A (p.Ser451Thr)
NM_000458.4(HNF1B):c.1406_1413dup (p.Val472fs) rs1598806177
NM_000458.4(HNF1B):c.1484T>A (p.Met495Lys)
NM_000458.4(HNF1B):c.1504G>A (p.Ala502Thr)
NM_000458.4(HNF1B):c.1538A>G (p.Tyr513Cys)
NM_000458.4(HNF1B):c.1640C>T (p.Ser547Phe)
NM_000458.4(HNF1B):c.215del (p.Gly72fs)
NM_000458.4(HNF1B):c.221T>A (p.Leu74Ter)
NM_000458.4(HNF1B):c.234G>C (p.Glu78Asp)
NM_000458.4(HNF1B):c.248G>A (p.Gly83Asp)
NM_000458.4(HNF1B):c.274C>T (p.Leu92Phe)
NM_000458.4(HNF1B):c.329T>G (p.Val110Gly)
NM_000458.4(HNF1B):c.344G>A (p.Ser115Asn)
NM_000458.4(HNF1B):c.345-1G>T
NM_000458.4(HNF1B):c.345-2A>G
NM_000458.4(HNF1B):c.34C>T (p.Leu12Phe)
NM_000458.4(HNF1B):c.351C>A (p.Asp117Glu)
NM_000458.4(HNF1B):c.372G>T (p.Met124Ile)
NM_000458.4(HNF1B):c.395A>C (p.His132Pro)
NM_000458.4(HNF1B):c.395A>G (p.His132Arg)
NM_000458.4(HNF1B):c.395A>T (p.His132Leu)
NM_000458.4(HNF1B):c.406dup (p.Gln136fs) rs886041820
NM_000458.4(HNF1B):c.434T>A (p.Leu145Gln)
NM_000458.4(HNF1B):c.436A>G (p.Asn146Asp)
NM_000458.4(HNF1B):c.437A>C (p.Asn146Thr)
NM_000458.4(HNF1B):c.443C>A (p.Ser148Ter)
NM_000458.4(HNF1B):c.443C>T (p.Ser148Leu)
NM_000458.4(HNF1B):c.451T>C (p.Ser151Pro)
NM_000458.4(HNF1B):c.452C>G (p.Ser151Cys)
NM_000458.4(HNF1B):c.460C>T (p.Leu154Phe)
NM_000458.4(HNF1B):c.461T>G (p.Leu154Arg)
NM_000458.4(HNF1B):c.476C>T (p.Pro159Leu)
NM_000458.4(HNF1B):c.477del (p.Pro159_Met160insTer)
NM_000458.4(HNF1B):c.479T>C (p.Met160Thr)
NM_000458.4(HNF1B):c.493C>A (p.Arg165Ser)
NM_000458.4(HNF1B):c.494G>A (p.Arg165His)
NM_000458.4(HNF1B):c.494G>C (p.Arg165Pro)
NM_000458.4(HNF1B):c.511T>C (p.Trp171Arg)
NM_000458.4(HNF1B):c.513G>C (p.Trp171Cys)
NM_000458.4(HNF1B):c.517G>A (p.Val173Ile)
NM_000458.4(HNF1B):c.517G>C (p.Val173Leu)
NM_000458.4(HNF1B):c.526C>T (p.Gln176Ter)
NM_000458.4(HNF1B):c.544+3_544+4insT
NM_000458.4(HNF1B):c.544+3_544+6del
NM_000458.4(HNF1B):c.586_589del (p.Lys196fs)
NM_000458.4(HNF1B):c.61dup (p.Val21fs) rs2034124973
NM_000458.4(HNF1B):c.634C>T (p.Gln212Ter) rs2147553451
NM_000458.4(HNF1B):c.698G>A (p.Arg233His)
NM_000458.4(HNF1B):c.703C>T (p.Arg235Trp)
NM_000458.4(HNF1B):c.704G>A (p.Arg235Gln)
NM_000458.4(HNF1B):c.712T>C (p.Trp238Arg)
NM_000458.4(HNF1B):c.719_720dup (p.Ala241fs) rs1598842886
NM_000458.4(HNF1B):c.728A>C (p.Gln243Pro)
NM_000458.4(HNF1B):c.737T>C (p.Leu246Ser)
NM_000458.4(HNF1B):c.755G>C (p.Arg252Pro)
NM_000458.4(HNF1B):c.758A>C (p.Gln253Pro)
NM_000458.4(HNF1B):c.766C>T (p.Pro256Ser)
NM_000458.4(HNF1B):c.781A>G (p.Arg261Gly)
NM_000458.4(HNF1B):c.791T>C (p.Leu264Ser)
NM_000458.4(HNF1B):c.818G>A (p.Cys273Tyr)
NM_000458.4(HNF1B):c.818G>C (p.Cys273Ser)
NM_000458.4(HNF1B):c.826C>G (p.Arg276Gly)
NM_000458.4(HNF1B):c.840dup (p.Ser281fs) rs1598841082
NM_000458.4(HNF1B):c.853G>A (p.Gly285Ser)
NM_000458.4(HNF1B):c.856C>G (p.Leu286Val)
NM_000458.4(HNF1B):c.857T>C (p.Leu286Pro) rs2147545592
NM_000458.4(HNF1B):c.860G>T (p.Gly287Val)
NM_000458.4(HNF1B):c.865A>G (p.Asn289Asp)
NM_000458.4(HNF1B):c.883C>T (p.Arg295Cys)
NM_000458.4(HNF1B):c.884G>A (p.Arg295His)
NM_000458.4(HNF1B):c.884G>C (p.Arg295Pro)
NM_000458.4(HNF1B):c.886G>T (p.Val296Phe)
NM_000458.4(HNF1B):c.895T>C (p.Trp299Arg)
NM_000458.4(HNF1B):c.895T>G (p.Trp299Gly)
NM_000458.4(HNF1B):c.896G>A (p.Trp299Ter) rs1598840996
NM_000458.4(HNF1B):c.904A>G (p.Asn302Asp)
NM_000458.4(HNF1B):c.906C>A (p.Asn302Lys)
NM_000458.4(HNF1B):c.910A>G (p.Arg304Gly) rs2033692285
NM_000458.4(HNF1B):c.935dup (p.Leu313fs)
NM_000458.4(HNF1B):c.940G>A (p.Ala314Thr)
NM_000458.4(HNF1B):c.949G>T (p.Ala317Ser)
NM_000458.4(HNF1B):c.962A>G (p.Asn321Ser)
NM_000525.4(KCNJ11):c.1064dup (p.Leu356fs) rs1337406718
NM_000525.4(KCNJ11):c.152_158del (p.Glu51fs) rs1953591118
NM_000525.4(KCNJ11):c.160dup (p.Arg54fs)
NM_000525.4(KCNJ11):c.161G>A (p.Arg54His) rs587783666
NM_000525.4(KCNJ11):c.290dup (p.His97fs) rs1554901854
NM_000525.4(KCNJ11):c.363_366del (p.Leu122fs) rs1554901829
NM_000525.4(KCNJ11):c.405dup (p.Arg136fs) rs557160758
NM_000525.4(KCNJ11):c.498C>A (p.Cys166Ter) rs587783669
NM_000525.4(KCNJ11):c.697C>T (p.Leu233Phe) rs1564865302
NM_000525.4(KCNJ11):c.718dup (p.Met240fs) rs1554901718
NM_000525.4(KCNJ11):c.765_771dup (p.Tyr258fs) rs1554901690
NM_000525.4(KCNJ11):c.774C>A (p.Tyr258Ter) rs1564865232
NM_000545.8(HNF1A):c.1129del (p.Leu377fs) rs193922576
NM_000545.8(HNF1A):c.1135C>A (p.Pro379Thr) rs754729248
NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala) rs754729248
NM_000545.8(HNF1A):c.1136C>A (p.Pro379His) rs371717826
NM_000545.8(HNF1A):c.1136_1137del (p.Pro379fs) rs1593060890
NM_000545.8(HNF1A):c.1136del (p.Pro379fs) rs1593060859
NM_000545.8(HNF1A):c.1137del (p.Val380fs) rs1555212248
NM_000545.8(HNF1A):c.1139del (p.Val380fs) rs1877113317
NM_000545.8(HNF1A):c.1140dup (p.Ser381fs) rs1593060912
NM_000545.8(HNF1A):c.1193A>C (p.Gln398Pro)
NM_000545.8(HNF1A):c.1238_1239dup (p.Ile414fs)
NM_000545.8(HNF1A):c.1264del (p.Leu422fs)
NM_000545.8(HNF1A):c.1265T>C (p.Leu422Pro) rs193922577
NM_000545.8(HNF1A):c.130del (p.Leu44fs) rs193922578
NM_000545.8(HNF1A):c.1310-1G>A rs1877168655
NM_000545.8(HNF1A):c.1310-2A>G rs2135847311
NM_000545.8(HNF1A):c.1345_1346insG (p.Ile449fs) rs2135847490
NM_000545.8(HNF1A):c.1359del (p.Ser454fs) rs1555212359
NM_000545.8(HNF1A):c.1369_1384dup (p.Val462fs) rs2135847592
NM_000545.8(HNF1A):c.139_155del (p.Gly47fs) rs2135819737
NM_000545.8(HNF1A):c.142del (p.Glu48fs) rs1566092470
NM_000545.8(HNF1A):c.1463_1473del (p.Pro488fs) rs1877180449
NM_000545.8(HNF1A):c.1469T>G (p.Met490Arg)
NM_000545.8(HNF1A):c.1487_1494del (p.Leu496fs)
NM_000545.8(HNF1A):c.1501+1G>A rs1131692182
NM_000545.8(HNF1A):c.1501+4A>G
NM_000545.8(HNF1A):c.1501+5G>C rs1399164820
NM_000545.8(HNF1A):c.1506_1507dup (p.Tyr503fs) rs193922582
NM_000545.8(HNF1A):c.1541dup (p.His514fs) rs1877293842
NM_000545.8(HNF1A):c.1614_1617del (p.Thr539fs)
NM_000545.8(HNF1A):c.1623G>A (p.Gln541=)
NM_000545.8(HNF1A):c.1624-2A>G rs1877309778
NM_000545.8(HNF1A):c.1637_1647del (p.Asp546fs)
NM_000545.8(HNF1A):c.169del (p.Leu57fs) rs193922588
NM_000545.8(HNF1A):c.1742_1768+2delinsACAGGG
NM_000545.8(HNF1A):c.1747_1766del (p.Arg583fs) rs1592898255
NM_000545.8(HNF1A):c.1766dup (p.Val590fs)
NM_000545.8(HNF1A):c.1768+1G>A rs1877324101
NM_000545.8(HNF1A):c.1781G>T (p.Ser594Ile) rs2135854451
NM_000545.8(HNF1A):c.1822_1829del (p.Ser608fs) rs1555212749
NM_000545.8(HNF1A):c.194G>A (p.Gly65Glu) rs2135819938
NM_000545.8(HNF1A):c.1A>G (p.Met1Val) rs193922592
NM_000545.8(HNF1A):c.26A>T (p.Gln9Leu) rs1876081310
NM_000545.8(HNF1A):c.281C>T (p.Pro94Leu) rs193922593
NM_000545.8(HNF1A):c.2T>C (p.Met1Thr) rs2135819325
NM_000545.8(HNF1A):c.313dup (p.Glu105fs) rs193922594
NM_000545.8(HNF1A):c.326+2T>G rs1555210478
NM_000545.8(HNF1A):c.327-3_327-1del rs1593054210
NM_000545.8(HNF1A):c.343G>T (p.Val115Leu) rs1876667856
NM_000545.8(HNF1A):c.365A>G (p.Tyr122Cys) rs137853237
NM_000545.8(HNF1A):c.368T>C (p.Leu123Pro) rs2135832538
NM_000545.8(HNF1A):c.369GCA[4] (p.Gln125dup) rs193922596
NM_000545.8(HNF1A):c.404A>C (p.Asp135Ala) rs1876671395
NM_000545.8(HNF1A):c.404del (p.Asp135fs) rs2135832632
NM_000545.8(HNF1A):c.431T>C (p.Leu144Pro)
NM_000545.8(HNF1A):c.441C>A (p.His147Gln) rs193922597
NM_000545.8(HNF1A):c.467C>A (p.Thr156Lys) rs150513055
NM_000545.8(HNF1A):c.475C>T (p.Arg159Trp) rs765432081
NM_000545.8(HNF1A):c.494G>T (p.Trp165Leu)
NM_000545.8(HNF1A):c.4del (p.Val2fs) rs1555260207
NM_000545.8(HNF1A):c.518_526+37del rs386134267
NM_000545.8(HNF1A):c.523C>T (p.Gln175Ter)
NM_000545.8(HNF1A):c.526+5G>A
NM_000545.8(HNF1A):c.527-1G>A rs1555211904
NM_000545.8(HNF1A):c.527-1G>C
NM_000545.8(HNF1A):c.52G>T (p.Glu18Ter) rs1876084046
NM_000545.8(HNF1A):c.607C>A (p.Arg203Ser) rs1180119907
NM_000545.8(HNF1A):c.607C>T (p.Arg203Cys) rs1180119907
NM_000545.8(HNF1A):c.661C>T (p.Gln221Ter) rs2135839643
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.676_678del (p.Lys226del) rs1555211927
NM_000545.8(HNF1A):c.686G>A (p.Arg229Gln) rs1057520779
NM_000545.8(HNF1A):c.695T>C (p.Leu232Pro)
NM_000545.8(HNF1A):c.714-1G>A rs1463923467
NM_000545.8(HNF1A):c.722_725dup (p.Ile242fs) rs1555211975
NM_000545.8(HNF1A):c.731G>T (p.Arg244Ile) rs193922602
NM_000545.8(HNF1A):c.734G>T (p.Gly245Val) rs193922603
NM_000545.8(HNF1A):c.737T>G (p.Val246Gly) rs2135841238
NM_000545.8(HNF1A):c.748C>T (p.Gln250Ter) rs1308016430
NM_000545.8(HNF1A):c.779C>T (p.Thr260Met) rs886039544
NM_000545.8(HNF1A):c.790G>T (p.Val264Phe) rs193922604
NM_000545.8(HNF1A):c.794A>C (p.Tyr265Ser) rs1555212006
NM_000545.8(HNF1A):c.803T>C (p.Phe268Ser) rs193922605
NM_000545.8(HNF1A):c.814C>T (p.Arg272Cys) rs1555212014
NM_000545.8(HNF1A):c.815G>A (p.Arg272His) rs137853238
NM_000545.8(HNF1A):c.818AAG[2] (p.Glu275del) rs1288094664
NM_000545.8(HNF1A):c.864_897del (p.Pro290fs) rs1565885935
NM_000545.8(HNF1A):c.864del (p.Pro291fs) rs762703502
NM_000545.8(HNF1A):c.864delinsCC (p.Gly292fs) rs1593058932
NM_000545.8(HNF1A):c.872C>G (p.Pro291Arg) rs193922606
NM_000545.8(HNF1A):c.955+2T>C
NM_000545.8(HNF1A):c.955+2dup
NM_000545.8(HNF1A):c.955+5G>C
NM_001243177.4(ALDOA):c.1001C>T (p.Ala334Val) rs2151019295
NM_001243177.4(ALDOA):c.1178G>A (p.Cys393Tyr) rs2151019809
NM_001243177.4(ALDOA):c.786+2T>C
NM_001243177.4(ALDOA):c.787-2A>G
NM_001358263.1(HK1):c.1A>G (p.Met1Val) rs1589439508
NM_001358263.1(HK1):c.1A>T (p.Met1Leu) rs1589439508
NM_001807.6(CEL):c.1776del (p.Val593fs) rs193922638
NM_001807.6(CEL):c.1776dup (p.Val593fs) rs193922638
NM_001807.6(CEL):c.1875del (p.Val626fs)
NM_001807.6(CEL):c.1974del (p.Val659fs) rs1341981506
NM_001807.6(CEL):c.337C>T (p.Gln113Ter) rs1200339761
NM_005566.4(LDHA):c.126+2T>C
NM_005566.4(LDHA):c.244G>A (p.Asp82Asn)
NM_033507.2(GCK):c.488del rs1246464603
NM_053013.4(ENO3):c.1176+2T>C
NM_173560.4(RFX6):c.166G>T (p.Glu56Ter)
NM_175914.5(HNF4A):c.1052_1053dup (p.Leu352fs) rs2063787705
NM_175914.5(HNF4A):c.1063G>C (p.Gly355Arg)
NM_175914.5(HNF4A):c.1187G>C (p.Cys396Ser) rs193922470
NM_175914.5(HNF4A):c.179G>A (p.Gly60Asp)
NM_175914.5(HNF4A):c.179G>T (p.Gly60Val) rs2146368271
NM_175914.5(HNF4A):c.194G>T (p.Ser65Ile)
NM_175914.5(HNF4A):c.1del (p.Met1fs) rs2146127577
NM_175914.5(HNF4A):c.200G>A (p.Arg67Gln) rs1555813319
NM_175914.5(HNF4A):c.201del (p.Lys68fs) rs1385251852
NM_175914.5(HNF4A):c.224+1G>A rs1600707958
NM_175914.5(HNF4A):c.224+2T>C rs1057524790
NM_175914.5(HNF4A):c.224G>A (p.Arg75Lys) rs1131692187
NM_175914.5(HNF4A):c.225-3C>A
NM_175914.5(HNF4A):c.270C>G (p.Cys90Trp)
NM_175914.5(HNF4A):c.281_282delinsC (p.Arg94fs) rs193922471
NM_175914.5(HNF4A):c.282G>T (p.Arg94Ser)
NM_175914.5(HNF4A):c.319+2T>C rs1600710669
NM_175914.5(HNF4A):c.359C>A (p.Ser120Ter)
NM_175914.5(HNF4A):c.3G>A (p.Met1Ile) rs2146127594
NM_175914.5(HNF4A):c.403C>T (p.Gln135Ter) rs1555815158
NM_175914.5(HNF4A):c.427-1G>A rs1568731279
NM_175914.5(HNF4A):c.469A>C (p.Lys157Gln)
NM_175914.5(HNF4A):c.470AGA[1] (p.Lys158del) rs1280663753
NM_175914.5(HNF4A):c.476T>C (p.Ile159Thr)
NM_175914.5(HNF4A):c.49+1G>T
NM_175914.5(HNF4A):c.498T>A (p.Cys166Ter) rs1555815393
NM_175914.5(HNF4A):c.530T>C (p.Val177Ala) rs2146417574
NM_175914.5(HNF4A):c.537G>C (p.Trp179Cys)
NM_175914.5(HNF4A):c.553G>C (p.Ala185Pro) rs193922474
NM_175914.5(HNF4A):c.575_582+10del rs193922475
NM_175914.5(HNF4A):c.582+1G>A rs1392795567
NM_175914.5(HNF4A):c.583-1G>C
NM_175914.5(HNF4A):c.589C>A (p.Leu197Met) rs1775879070
NM_175914.5(HNF4A):c.614A>C (p.His205Pro) rs2146438016
NM_175914.5(HNF4A):c.640T>A (p.Ser214Thr) rs1060499693
NM_175914.5(HNF4A):c.660_662delinsTCAA (p.Leu221fs) rs193922476
NM_175914.5(HNF4A):c.68del (p.Gly23fs)
NM_175914.5(HNF4A):c.691C>T (p.Arg231Trp) rs376013528
NM_175914.5(HNF4A):c.740T>C (p.Leu247Pro) rs1555816654
NM_175914.5(HNF4A):c.778G>A (p.Asp260Asn)
NM_175914.5(HNF4A):c.787G>C (p.Glu263Gln)
NM_175914.5(HNF4A):c.823C>T (p.Pro275Ser)
NM_175914.5(HNF4A):c.827-1G>A rs2146467548
NM_175914.5(HNF4A):c.869G>A (p.Arg290His) rs1191912908
NM_175914.5(HNF4A):c.926G>T (p.Arg309Leu) rs369429452
NM_175914.5(HNF4A):c.932G>A (p.Arg311His) rs1375557127
NM_175914.5(HNF4A):c.944TGC[6] (p.Leu319dup) rs776489992
NM_175914.5(HNF4A):c.968del (p.Gln323fs) rs1555817851
NM_194436.3(LDHD):c.1053G>T (p.Trp351Cys) rs1567502487
NM_194436.3(LDHD):c.561_562del (p.Leu188fs)
Single allele
p.X466Trp

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