ClinVar Miner

List of variants reported as uncertain significance for carbohydrate metabolism disease by Counsyl

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 768
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HGVS dbSNP
NM_000027.4(AGA):c.179G>A (p.Gly60Asp) rs121964907
NM_000027.4(AGA):c.308_310del (p.Gly103del) rs1553994762
NM_000027.4(AGA):c.365C>A (p.Thr122Lys) rs771563230
NM_000030.3(AGXT):c.*39G>A rs369979466
NM_000030.3(AGXT):c.1072-91G>A rs180177159
NM_000030.3(AGXT):c.145A>C (p.Met49Leu) rs74205173
NM_000030.3(AGXT):c.260_271del (p.Glu87_Leu90del) rs1553648333
NM_000030.3(AGXT):c.423G>C (p.Glu141Asp) rs180177217
NM_000030.3(AGXT):c.683AGA[3] (p.Lys229dup) rs1553648979
NM_000030.3(AGXT):c.781C>G (p.His261Asp) rs778567956
NM_000030.3(AGXT):c.82C>T (p.Pro28Ser) rs376684240
NM_000030.3(AGXT):c.865C>T (p.Arg289Cys) rs180177290
NM_000030.3(AGXT):c.866G>A (p.Arg289His) rs61729604
NM_000035.4(ALDOB):c.1027T>C (p.Tyr343His) rs369586696
NM_000035.4(ALDOB):c.1063C>T (p.Gln355Ter) rs1554702065
NM_000035.4(ALDOB):c.136A>T (p.Arg46Trp) rs41281039
NM_000035.4(ALDOB):c.221T>C (p.Ile74Thr) rs781023784
NM_000035.4(ALDOB):c.264C>A (p.Asp88Glu) rs200585150
NM_000035.4(ALDOB):c.664G>T (p.Val222Phe) rs1554702442
NM_000035.4(ALDOB):c.686T>C (p.Leu229Pro) rs1554702433
NM_000035.4(ALDOB):c.698T>A (p.Met233Lys) rs777324536
NM_000035.4(ALDOB):c.806_808del (p.Cys269del) rs1159180033
NM_000108.5(DLD):c.1440A>G (p.Ile480Met) rs772512477
NM_000108.5(DLD):c.1463del (p.Pro488fs) rs1554400720
NM_000108.5(DLD):c.1528T>C (p.Ter510Arg) rs1554400769
NM_000108.5(DLD):c.161A>G (p.Tyr54Cys) rs763303046
NM_000108.5(DLD):c.439-6G>C rs369208046
NM_000151.4(G6PC1):c.1067C>A (p.Ser356Ter) rs1555560217
NM_000151.4(G6PC1):c.14T>G (p.Met5Arg) rs1250172816
NM_000151.4(G6PC1):c.341G>A (p.Gly114Glu) rs544563908
NM_000151.4(G6PC1):c.361A>G (p.Met121Val) rs1555559733
NM_000151.4(G6PC1):c.47C>G (p.Thr16Arg) rs1555558914
NM_000151.4(G6PC1):c.497T>C (p.Val166Ala) rs104894571
NM_000151.4(G6PC1):c.646C>T (p.Leu216=) rs749665480
NM_000151.4(G6PC1):c.674T>C (p.Leu225Pro) rs1555560128
NM_000151.4(G6PC1):c.781CTC[1] (p.Leu262del) rs1305819623
NM_000151.4(G6PC1):c.792C>A (p.Asn264Lys) rs1555560149
NM_000151.4(G6PC1):c.943C>G (p.Pro315Ala) rs143321486
NM_000151.4(G6PC1):c.965T>A (p.Phe322Tyr) rs863224022
NM_000152.5(GAA):c.1048G>A (p.Val350Met) rs200412003
NM_000152.5(GAA):c.1099T>C (p.Trp367Arg) rs1555600061
NM_000152.5(GAA):c.1129G>A (p.Gly377Ser) rs752002666
NM_000152.5(GAA):c.1216G>A (p.Asp406Asn) rs1555600179
NM_000152.5(GAA):c.1242_1244del (p.Phe414_Thr415delinsLeu) rs1555600194
NM_000152.5(GAA):c.1280T>C (p.Met427Thr) rs1555600212
NM_000152.5(GAA):c.1324G>A (p.Val442Met) rs377559348
NM_000152.5(GAA):c.1336_1356dup (p.Ile446_Ala452dup) rs1555600488
NM_000152.5(GAA):c.1375G>A (p.Asp459Asn) rs535644999
NM_000152.5(GAA):c.1378G>A (p.Glu460Lys) rs771213237
NM_000152.5(GAA):c.1402A>T (p.Ile468Phe) rs886043148
NM_000152.5(GAA):c.1552-3C>G rs375470378
NM_000152.5(GAA):c.1669A>T (p.Ile557Phe) rs747150965
NM_000152.5(GAA):c.1710C>G (p.Asn570Lys) rs765362308
NM_000152.5(GAA):c.1771C>T (p.Arg591Trp) rs770983413
NM_000152.5(GAA):c.1784C>T (p.Pro595Leu) rs763772240
NM_000152.5(GAA):c.1796C>A (p.Ser599Tyr) rs753505203
NM_000152.5(GAA):c.1819_1836dup (p.Gly607_His612dup) rs1555601409
NM_000152.5(GAA):c.2045A>G (p.Gln682Arg) rs1484576607
NM_000152.5(GAA):c.2053_2070del (p.Tyr685_Pro690del) rs1555601721
NM_000152.5(GAA):c.2174G>A (p.Arg725Gln) rs577042191
NM_000152.5(GAA):c.2236T>C (p.Trp746Arg) rs1479740763
NM_000152.5(GAA):c.2236T>G (p.Trp746Gly) rs1479740763
NM_000152.5(GAA):c.2237G>T (p.Trp746Leu) rs752921215
NM_000152.5(GAA):c.2284G>A (p.Glu762Lys) rs760063214
NM_000152.5(GAA):c.2314T>C (p.Trp772Arg) rs1555602703
NM_000152.5(GAA):c.2316G>T (p.Trp772Cys) rs1057524664
NM_000152.5(GAA):c.2320G>A (p.Asp774Asn) rs758390382
NM_000152.5(GAA):c.2482-5T>C rs1290870969
NM_000152.5(GAA):c.2584G>A (p.Gly862Arg) rs1555603113
NM_000152.5(GAA):c.2647-20T>G rs1555603208
NM_000152.5(GAA):c.2647-23del rs749000061
NM_000152.5(GAA):c.2744A>C (p.Gln915Pro) rs1555603272
NM_000152.5(GAA):c.2746G>T (p.Val916Phe) rs1221948995
NM_000152.5(GAA):c.2757del (p.Asn919fs) rs1555603283
NM_000152.5(GAA):c.2799+4A>G rs778032599
NM_000152.5(GAA):c.2811_2819del (p.Ile937_Ser940delinsMet) rs1555603411
NM_000152.5(GAA):c.2853G>A (p.Trp951Ter) rs1555603436
NM_000152.5(GAA):c.2858A>G (p.Ter953Trp) rs958648168
NM_000152.5(GAA):c.2859G>T (p.Ter953Tyr) rs1334316018
NM_000152.5(GAA):c.391CCCAGCTAC[3] (p.131PSY[3]) rs1555598846
NM_000152.5(GAA):c.421C>A (p.Leu141Met) rs1379595858
NM_000152.5(GAA):c.460_465del (p.Arg154_Thr155del) rs1555598888
NM_000152.5(GAA):c.533G>A (p.Arg178His) rs762267535
NM_000152.5(GAA):c.546+5G>T rs756024023
NM_000152.5(GAA):c.632_643del (p.Val211_Ser214del) rs1555599099
NM_000152.5(GAA):c.710C>T (p.Ala237Val) rs121907944
NM_000152.5(GAA):c.725C>T (p.Ala242Val) rs745861849
NM_000152.5(GAA):c.841C>T (p.Arg281Trp) rs142967546
NM_000152.5(GAA):c.853C>T (p.Pro285Ser) rs886042086
NM_000152.5(GAA):c.953T>A (p.Met318Lys) rs121907936
NM_000152.5(GAA):c.971C>T (p.Pro324Leu) rs750030887
NM_000154.2(GALK1):c.-33_-20dup rs1555748974
NM_000154.2(GALK1):c.1012dup (p.Val338fs) rs1555747776
NM_000154.2(GALK1):c.1045G>A (p.Gly349Ser) rs754967473
NM_000154.2(GALK1):c.116A>G (p.Asn39Ser) rs536209426
NM_000154.2(GALK1):c.130C>T (p.His44Tyr) rs1555748926
NM_000154.2(GALK1):c.202C>T (p.Arg68Cys) rs1365349586
NM_000154.2(GALK1):c.409G>C (p.Gly137Arg) rs1555748630
NM_000154.2(GALK1):c.479C>T (p.Ser160Leu) rs575077063
NM_000154.2(GALK1):c.511CAG[1] (p.Gln172del) rs1555748595
NM_000154.2(GALK1):c.520G>A (p.Glu174Lys) rs1363497653
NM_000154.2(GALK1):c.716G>A (p.Arg239Gln) rs575139300
NM_000154.2(GALK1):c.821G>A (p.Gly274Asp) rs959842362
NM_000154.2(GALK1):c.830G>A (p.Arg277Gln) rs370029131
NM_000154.2(GALK1):c.841G>A (p.Val281Met) rs753571180
NM_000154.2(GALK1):c.863C>T (p.Thr288Met) rs759284637
NM_000154.2(GALK1):c.919_921del (p.Met307del) rs1247635972
NM_000154.2(GALK1):c.94G>A (p.Val32Met) rs104894576
NM_000155.3(GALT):c.-130_-129insCAGT rs111033640
NM_000155.4(GALT):c.1006A>T (p.Met336Leu) rs111033810
NM_000155.4(GALT):c.100T>A (p.Tyr34Asn) rs111033836
NM_000155.4(GALT):c.1132A>G (p.Ile378Val) rs111033819
NM_000155.4(GALT):c.152G>A (p.Arg51Gln) rs111033648
NM_000155.4(GALT):c.157T>C (p.Trp53Arg) rs1131691837
NM_000155.4(GALT):c.197C>T (p.Pro66Leu) rs111033656
NM_000155.4(GALT):c.200G>A (p.Arg67His) rs758430398
NM_000155.4(GALT):c.203A>G (p.His68Arg) rs193922247
NM_000155.4(GALT):c.247G>A (p.Gly83Arg) rs111033660
NM_000155.4(GALT):c.27G>C (p.Gln9His) rs111033637
NM_000155.4(GALT):c.336T>G (p.Ser112Arg) rs367543254
NM_000155.4(GALT):c.346C>A (p.Leu116Ile) rs1554709252
NM_000155.4(GALT):c.389G>A (p.Cys130Tyr) rs367543255
NM_000155.4(GALT):c.394C>T (p.His132Tyr) rs111033688
NM_000155.4(GALT):c.452T>C (p.Val151Ala) rs111033701
NM_000155.4(GALT):c.496C>G (p.Pro166Ala) rs367543257
NM_000155.4(GALT):c.507+10G>A rs753052473
NM_000155.4(GALT):c.508-29del rs111033711
NM_000155.4(GALT):c.527C>T (p.Ala176Val) rs1554709329
NM_000155.4(GALT):c.547C>A (p.Pro183Thr) rs111033721
NM_000155.4(GALT):c.552C>A (p.His184Gln) rs111033717
NM_000155.4(GALT):c.554C>T (p.Pro185Leu) rs111033722
NM_000155.4(GALT):c.572C>A (p.Ala191Asp) rs794727838
NM_000155.4(GALT):c.590A>G (p.Asp197Gly) rs1554709359
NM_000155.4(GALT):c.607G>A (p.Glu203Lys) rs111033736
NM_000155.4(GALT):c.652C>G (p.Leu218Val) rs2070075
NM_000155.4(GALT):c.676C>G (p.Leu226Val) rs111033751
NM_000155.4(GALT):c.687G>A (p.Lys229=) rs111033753
NM_000155.4(GALT):c.752A>G (p.Tyr251Cys) rs111033755
NM_000155.4(GALT):c.776G>A (p.Arg259Gln) rs886042070
NM_000155.4(GALT):c.788G>A (p.Arg263Gln) rs777023967
NM_000155.4(GALT):c.814C>T (p.Arg272Cys) rs111033766
NM_000155.4(GALT):c.857A>G (p.Tyr286Cys) rs367543262
NM_000155.4(GALT):c.864C>T (p.Asn288=) rs372134800
NM_000155.4(GALT):c.883C>A (p.Pro295Thr) rs111033783
NM_000155.4(GALT):c.957C>T (p.His319=) rs111033792
NM_000155.4(GALT):c.961C>T (p.His321Tyr) rs367543266
NM_000155.4(GALT):c.970C>T (p.Pro324Ser) rs111033798
NM_000158.4(GBE1):c.1134T>G (p.Ser378Arg) rs36099971
NM_000158.4(GBE1):c.1492G>A (p.Glu498Lys) rs201758548
NM_000158.4(GBE1):c.1874T>G (p.Phe625Cys) rs769567764
NM_000158.4(GBE1):c.785G>A (p.Arg262His) rs369574719
NM_000199.5(SGSH):c.-12_-10GCC[5] (p.Met1_Ser2insAla) rs1555624208
NM_000199.5(SGSH):c.1040C>T (p.Ser347Phe) rs780239925
NM_000199.5(SGSH):c.1045_1071del (p.Leu349_Leu357del) rs1555620306
NM_000199.5(SGSH):c.1092C>A (p.Ser364Arg) rs1428699412
NM_000199.5(SGSH):c.119A>C (p.Tyr40Ser) rs1555623007
NM_000199.5(SGSH):c.1241_1244dup (p.Thr416fs) rs1412408576
NM_000199.5(SGSH):c.1287_1289del (p.Tyr432del) rs1555620148
NM_000199.5(SGSH):c.130G>A (p.Ala44Thr) rs1057521146
NM_000199.5(SGSH):c.1416G>C (p.Gln472His) rs1555620072
NM_000199.5(SGSH):c.1445_1446insT (p.Asp484fs) rs1555620043
NM_000199.5(SGSH):c.1462GAG[1] (p.Glu489del) rs1252944094
NM_000199.5(SGSH):c.1486C>T (p.Gln496Ter) rs1232231848
NM_000199.5(SGSH):c.171C>G (p.Ser57Arg) rs1131691434
NM_000199.5(SGSH):c.175C>T (p.Leu59Phe) rs1555622928
NM_000199.5(SGSH):c.367AAG[1] (p.Lys124del) rs1555621974
NM_000199.5(SGSH):c.416C>T (p.Thr139Met) rs775112689
NM_000199.5(SGSH):c.437T>C (p.Leu146Pro) rs749358773
NM_000199.5(SGSH):c.48_50dup (p.Leu17dup) rs1555624091
NM_000199.5(SGSH):c.675C>G (p.Phe225Leu) rs34520362
NM_000199.5(SGSH):c.726C>T (p.Thr242=) rs1347877363
NM_000199.5(SGSH):c.817G>A (p.Asp273Asn) rs1046551417
NM_000199.5(SGSH):c.932C>A (p.Ala311Asp) rs753934983
NM_000199.5(SGSH):c.937_939dup (p.Val313dup) rs1555620723
NM_000199.5(SGSH):c.961A>G (p.Thr321Ala) rs758756630
NM_000199.5(SGSH):c.97G>A (p.Gly33Arg) rs398123246
NM_000203.4(IDUA):c.199A>T (p.Ser67Cys) rs370442463
NM_000203.5(IDUA):c.1073_1093del (p.His358_Thr364del) rs1214495121
NM_000203.5(IDUA):c.1087C>T (p.Arg363Cys) rs750496798
NM_000203.5(IDUA):c.1115A>G (p.Asn372Ser) rs1553917304
NM_000203.5(IDUA):c.1154C>G (p.Pro385Arg) rs1553917309
NM_000203.5(IDUA):c.1160T>C (p.Leu387Pro) rs1553917310
NM_000203.5(IDUA):c.1163C>A (p.Thr388Lys) rs794727896
NM_000203.5(IDUA):c.1163C>T (p.Thr388Met) rs794727896
NM_000203.5(IDUA):c.1189+5G>A rs1553917318
NM_000203.5(IDUA):c.1226G>A (p.Gly409Glu) rs1465083754
NM_000203.5(IDUA):c.1249_1275del (p.Thr417_His425del) rs1450080299
NM_000203.5(IDUA):c.1366_1389del (p.Val456_Val463del) rs1553917418
NM_000203.5(IDUA):c.1424_1426del (p.Tyr475del) rs1553917455
NM_000203.5(IDUA):c.156C>G (p.Phe52Leu) rs1421520718
NM_000203.5(IDUA):c.1708G>C (p.Asp570His) rs1553917627
NM_000203.5(IDUA):c.1727+4C>T rs1202966289
NM_000203.5(IDUA):c.1728-9C>T rs374775605
NM_000203.5(IDUA):c.1855C>G (p.Arg619Gly) rs121965031
NM_000203.5(IDUA):c.1914C>G (p.Tyr638Ter) rs768467230
NM_000203.5(IDUA):c.1918G>T (p.Glu640Ter) rs1553917764
NM_000203.5(IDUA):c.227A>G (p.Tyr76Cys) rs780165694
NM_000203.5(IDUA):c.245A>C (p.His82Pro) rs794727239
NM_000203.5(IDUA):c.299+1212del rs1553915188
NM_000203.5(IDUA):c.299G>A (p.Arg100Lys) rs777698606
NM_000203.5(IDUA):c.300-3C>G rs1226056948
NM_000203.5(IDUA):c.34_45dup (p.Ala12_Ala15dup) rs1553914754
NM_000203.5(IDUA):c.399G>C (p.Met133Ile) rs558683362
NM_000203.5(IDUA):c.485G>A (p.Arg162Lys) rs1553916949
NM_000203.5(IDUA):c.548C>G (p.Pro183Arg) rs1238128027
NM_000203.5(IDUA):c.590G>A (p.Gly197Asp) rs770087890
NM_000203.5(IDUA):c.601TAC[3] (p.Tyr202dup) rs1553917091
NM_000203.5(IDUA):c.637_645dup (p.Ser213_Ala215dup) rs760582777
NM_000203.5(IDUA):c.640_642dup (p.Pro214dup) rs764105238
NM_000203.5(IDUA):c.64C>T (p.Pro22Ser) rs1001972534
NM_000203.5(IDUA):c.69_77del (p.Ala24_Ala26del) rs1553914780
NM_000203.5(IDUA):c.739TTC[1] (p.Phe248del) rs764800004
NM_000203.5(IDUA):c.757G>T (p.Gly253Cys) rs546933529
NM_000203.5(IDUA):c.787A>T (p.Arg263Trp) rs201268637
NM_000203.5(IDUA):c.886_894dup (p.Tyr296_Asp298dup) rs1553917216
NM_000203.5(IDUA):c.898G>A (p.Ala300Thr) rs121965030
NM_000203.5(IDUA):c.923T>C (p.Leu308Pro) rs752337969
NM_000203.5(IDUA):c.946G>A (p.Val316Met) rs755445369
NM_000203.5(IDUA):c.973-4G>A rs745832717
NM_000203.5(IDUA):c.975_980del (p.Ile326_Ala327del) rs1553917253
NM_000213.5(ITGB4):c.5179_5200del (p.Pro1726_Glu1727insTer) rs759412123
NM_000213.5(ITGB4):c.5218+2T>C rs780675808
NM_000213.5(ITGB4):c.5247_5251del (p.Gly1750fs) rs1555746537
NM_000213.5(ITGB4):c.5350C>T (p.Gln1784Ter) rs1443010160
NM_000263.4(NAGLU):c.1000G>T (p.Val334Phe) rs749140168
NM_000263.4(NAGLU):c.1004A>G (p.Tyr335Cys) rs768918822
NM_000263.4(NAGLU):c.1163_1177del (p.Gln388_Thr392del) rs1555622266
NM_000263.4(NAGLU):c.1229T>C (p.Phe410Ser) rs574688121
NM_000263.4(NAGLU):c.1336G>A (p.Glu446Lys) rs114625063
NM_000263.4(NAGLU):c.1395_1397del (p.Lys465_Asp466delinsAsn) rs1555622346
NM_000263.4(NAGLU):c.1445G>A (p.Arg482Gln) rs200909691
NM_000263.4(NAGLU):c.144C>G (p.Phe48Leu) rs104894599
NM_000263.4(NAGLU):c.1621C>T (p.Arg541Trp) rs780527821
NM_000263.4(NAGLU):c.1694G>T (p.Arg565Leu) rs104894598
NM_000263.4(NAGLU):c.1772T>C (p.Leu591Pro) rs1215582852
NM_000263.4(NAGLU):c.1851G>T (p.Leu617Phe) rs1555622482
NM_000263.4(NAGLU):c.1928G>A (p.Arg643His) rs104894593
NM_000263.4(NAGLU):c.202_203insCCG (p.Gly68_Gly69insAla) rs1469781984
NM_000263.4(NAGLU):c.203GCG[5] (p.Gly71dup) rs1186888836
NM_000263.4(NAGLU):c.208G>C (p.Gly70Arg) rs1329159364
NM_000263.4(NAGLU):c.20_31dup (p.Ala7_Val10dup) rs1555621404
NM_000263.4(NAGLU):c.2113G>A (p.Glu705Lys) rs1364203992
NM_000263.4(NAGLU):c.2158C>T (p.Arg720Ter) rs1555622589
NM_000263.4(NAGLU):c.2183AGA[1] (p.Lys729del) rs1216052074
NM_000263.4(NAGLU):c.2229G>A (p.Trp743Ter) rs749371796
NM_000263.4(NAGLU):c.2232A>G (p.Ter744Trp) rs1555622606
NM_000263.4(NAGLU):c.257_262dup (p.Ala86_Ala87dup) rs1555621450
NM_000263.4(NAGLU):c.26_31del (p.Ala9_Val10del) rs1555621405
NM_000263.4(NAGLU):c.274T>C (p.Tyr92His) rs1555621454
NM_000263.4(NAGLU):c.370_375del (p.Ala124_Thr125del) rs1555621469
NM_000263.4(NAGLU):c.422C>T (p.Ser141Phe) rs886043785
NM_000263.4(NAGLU):c.423_425del (p.Phe142del) rs1555621579
NM_000263.4(NAGLU):c.461T>G (p.Ile154Arg) rs770684838
NM_000263.4(NAGLU):c.465_467del (p.Asp155_Trp156delinsGlu) rs1238423614
NM_000263.4(NAGLU):c.512AGG[1] (p.Glu172del) rs1555621605
NM_000263.4(NAGLU):c.5_10dup (p.Glu2_Ala3dup) rs1555621396
NM_000263.4(NAGLU):c.680A>C (p.His227Pro) rs747155746
NM_000263.4(NAGLU):c.845C>T (p.Ala282Val) rs144771528
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn) rs1052471595
NM_000289.6(PFKM):c.1127G>A (p.Arg376Gln) rs187131358
NM_000352.5(ABCC8):c.1672-20A>G rs931436550
NM_000352.5(ABCC8):c.2041-12C>A rs201419039
NM_000352.5(ABCC8):c.2041-25G>A rs1554924660
NM_000352.5(ABCC8):c.2222+15C>A rs377174421
NM_000352.5(ABCC8):c.2694+3G>A rs1554914779
NM_000352.5(ABCC8):c.2694+4A>T rs1554914771
NM_000352.5(ABCC8):c.3399+13G>A rs182340196
NM_000352.5(ABCC8):c.3867+7G>A rs372198547
NM_000352.5(ABCC8):c.823-7T>A rs1554942148
NM_000352.6(ABCC8):c.103C>T (p.Pro35Ser) rs1183465672
NM_000352.6(ABCC8):c.115_123del (p.Leu39_Phe41del) rs1554949238
NM_000352.6(ABCC8):c.119T>G (p.Leu40Arg) rs1554949242
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg) rs67254669
NM_000352.6(ABCC8):c.126_146dup (p.Thr43_Ile49dup) rs1554949190
NM_000352.6(ABCC8):c.145A>T (p.Ile49Phe) rs1554949196
NM_000352.6(ABCC8):c.1484G>A (p.Arg495Gln) rs1420601296
NM_000352.6(ABCC8):c.1585_1587del (p.Glu529del) rs1554933031
NM_000352.6(ABCC8):c.1858C>T (p.Arg620Cys) rs58241708
NM_000352.6(ABCC8):c.1970G>A (p.Arg657Gln) rs755707550
NM_000352.6(ABCC8):c.208G>C (p.Gly70Arg) rs764349043
NM_000352.6(ABCC8):c.2180T>G (p.Leu727Arg) rs1554924079
NM_000352.6(ABCC8):c.2454_2456del (p.Asp818_Gln819delinsGlu) rs1554916621
NM_000352.6(ABCC8):c.250G>A (p.Val84Ile) rs775776658
NM_000352.6(ABCC8):c.2522G>A (p.Arg841Gln) rs547150342
NM_000352.6(ABCC8):c.2666A>C (p.Lys889Thr) rs761862121
NM_000352.6(ABCC8):c.307C>T (p.His103Tyr) rs751209734
NM_000352.6(ABCC8):c.3088G>A (p.Asp1030Asn) rs1225850029
NM_000352.6(ABCC8):c.3243_3251del (p.Ser1082_Thr1084del) rs1271445653
NM_000352.6(ABCC8):c.3470_3472del (p.Ser1157del) rs1554910736
NM_000352.6(ABCC8):c.3736T>C (p.Trp1246Arg) rs1554906790
NM_000352.6(ABCC8):c.3759_3767dup (p.Ile1254_Ala1256dup) rs1554906427
NM_000352.6(ABCC8):c.3763G>A (p.Gly1255Ser) rs1185034563
NM_000352.6(ABCC8):c.3788C>A (p.Ala1263Glu) rs772094360
NM_000352.6(ABCC8):c.3905C>T (p.Ala1302Val) rs1340859533
NM_000352.6(ABCC8):c.3938G>A (p.Arg1313His) rs372153432
NM_000352.6(ABCC8):c.3989-3C>G rs1324242791
NM_000352.6(ABCC8):c.4008G>C (p.Lys1336Asn) rs67767715
NM_000352.6(ABCC8):c.4012T>A (p.Trp1338Arg) rs1554905805
NM_000352.6(ABCC8):c.403C>G (p.Leu135Val) rs368450282
NM_000352.6(ABCC8):c.4096G>A (p.Ala1366Thr) rs1554905695
NM_000352.6(ABCC8):c.4097C>A (p.Ala1366Asp) rs746811190
NM_000352.6(ABCC8):c.4115AGA[1] (p.Lys1373del) rs1554905655
NM_000352.6(ABCC8):c.4132G>C (p.Gly1378Arg) rs925231098
NM_000352.6(ABCC8):c.4135C>A (p.Arg1379Ser) rs137852673
NM_000352.6(ABCC8):c.4141G>A (p.Gly1381Ser) rs773448052
NM_000352.6(ABCC8):c.4178G>A (p.Arg1393His) rs769279368
NM_000352.6(ABCC8):c.4253G>T (p.Arg1418Leu) rs1446306735
NM_000352.6(ABCC8):c.4349T>C (p.Leu1450Pro) rs1554904565
NM_000352.6(ABCC8):c.4376T>G (p.Leu1459Arg) rs971604271
NM_000352.6(ABCC8):c.4446C>A (p.Ser1482Arg) rs1554904107
NM_000352.6(ABCC8):c.4456_4461del (p.Arg1486_Gln1487del) rs1554904088
NM_000352.6(ABCC8):c.4563G>C (p.Lys1521Asn) rs142272833
NM_000352.6(ABCC8):c.4607C>T (p.Ala1536Val) rs745918247
NM_000352.6(ABCC8):c.4608G>A (p.Ala1536=) rs1439464815
NM_000352.6(ABCC8):c.4615G>A (p.Val1539Met) rs193922408
NM_000352.6(ABCC8):c.524T>A (p.Leu175Gln) rs1554943599
NM_000352.6(ABCC8):c.536A>G (p.Tyr179Cys) rs919281813
NM_000352.6(ABCC8):c.589TTC[1] (p.Phe198del) rs772409200
NM_000352.6(ABCC8):c.686C>T (p.Thr229Ile) rs768017509
NM_000352.6(ABCC8):c.691T>C (p.Trp231Arg) rs1554942704
NM_000352.6(ABCC8):c.824G>A (p.Arg275Gln) rs185040406
NM_000352.6(ABCC8):c.886G>A (p.Gly296Arg) rs148529020
NM_000352.6(ABCC8):c.917G>A (p.Arg306His) rs1409900082
NM_000352.6(ABCC8):c.926C>G (p.Ala309Gly) rs149347593
NM_000352.6(ABCC8):c.97G>T (p.Val33Leu) rs768372267
NM_000404.4(GLB1):c.1223A>C (p.Gln408Pro) rs72555369
NM_000404.4(GLB1):c.1285C>T (p.Pro429Ser) rs180869784
NM_000404.4(GLB1):c.1310A>T (p.Asn437Ile) rs202237232
NM_000404.4(GLB1):c.1438A>G (p.Met480Val) rs1280400930
NM_000404.4(GLB1):c.1444C>T (p.Arg482Cys) rs72555365
NM_000404.4(GLB1):c.1452C>G (p.Asn484Lys) rs968221254
NM_000404.4(GLB1):c.1454A>G (p.Tyr485Cys) rs1553606400
NM_000404.4(GLB1):c.146G>A (p.Arg49His) rs780523881
NM_000404.4(GLB1):c.1471G>A (p.Asp491Asn) rs780232995
NM_000404.4(GLB1):c.1481G>T (p.Gly494Val) rs202007119
NM_000404.4(GLB1):c.152T>A (p.Ile51Asn) rs72555390
NM_000404.4(GLB1):c.1768C>A (p.Arg590Ser) rs794727165
NM_000404.4(GLB1):c.1769G>A (p.Arg590His) rs398123351
NM_000404.4(GLB1):c.1772A>G (p.Tyr591Cys) rs72555371
NM_000404.4(GLB1):c.1783C>T (p.Arg595Trp) rs201807974
NM_000404.4(GLB1):c.188T>A (p.Phe63Tyr) rs1228819238
NM_000404.4(GLB1):c.1978A>T (p.Arg660Ter) rs1553604682
NM_000404.4(GLB1):c.1991del (p.Pro664fs) rs1553604677
NM_000404.4(GLB1):c.2002A>T (p.Lys668Ter) rs758168173
NM_000404.4(GLB1):c.2007_2010del (p.Asn669fs) rs1553604656
NM_000404.4(GLB1):c.2011del (p.Asp671fs) rs1553604655
NM_000404.4(GLB1):c.2032T>C (p.Ter678Arg) rs1553604645
NM_000404.4(GLB1):c.2034A>C (p.Ter678Cys) rs1553604644
NM_000404.4(GLB1):c.203G>A (p.Arg68Gln) rs572237881
NM_000404.4(GLB1):c.248A>G (p.Tyr83Cys) rs1553612220
NM_000404.4(GLB1):c.335A>C (p.His112Pro) rs753965226
NM_000404.4(GLB1):c.395T>C (p.Met132Thr) rs1553612189
NM_000404.4(GLB1):c.401G>T (p.Gly134Val) rs773562141
NM_000404.4(GLB1):c.446C>T (p.Ser149Phe) rs778700089
NM_000404.4(GLB1):c.501C>T (p.Pro167=) rs1553611799
NM_000404.4(GLB1):c.572G>A (p.Ser191Asn) rs1553611055
NM_000404.4(GLB1):c.734-8A>G rs398123357
NM_000404.4(GLB1):c.797A>G (p.Asn266Ser) rs1214295886
NM_000404.4(GLB1):c.93G>A (p.Met31Ile) rs1553612598
NM_000404.4(GLB1):c.971A>G (p.Tyr324Cys) rs977975596
NM_000525.3(KCNJ11):c.-135_-134insCT rs1554901983
NM_000525.3(KCNJ11):c.-54C>T rs1016780684
NM_000525.3(KCNJ11):c.1016T>G (p.Val339Gly) rs138125678
NM_000525.3(KCNJ11):c.1040G>A (p.Arg347His) rs771797701
NM_000525.3(KCNJ11):c.1093C>T (p.Arg365Cys) rs758749160
NM_000525.3(KCNJ11):c.1094G>A (p.Arg365His) rs750689750
NM_000525.3(KCNJ11):c.1112G>A (p.Arg371His) rs1233061680
NM_000525.3(KCNJ11):c.1138_1143dup (p.Lys381_Phe382insProLys) rs1440128889
NM_000525.3(KCNJ11):c.119G>A (p.Gly40Asp) rs1001873841
NM_000525.3(KCNJ11):c.264G>T (p.Met88Ile) rs1554901866
NM_000525.3(KCNJ11):c.292G>A (p.Gly98Ser) rs1554901851
NM_000525.3(KCNJ11):c.302C>A (p.Ala101Asp) rs1014454531
NM_000525.3(KCNJ11):c.407G>A (p.Arg136His) rs1479483693
NM_000525.3(KCNJ11):c.527G>A (p.Arg176His) rs1266231295
NM_000525.3(KCNJ11):c.575G>A (p.Arg192His) rs750778014
NM_000525.3(KCNJ11):c.584G>A (p.Arg195His) rs5217
NM_000525.3(KCNJ11):c.617G>T (p.Arg206Leu) rs1554901747
NM_000525.3(KCNJ11):c.662G>A (p.Arg221His) rs768909861
NM_000525.3(KCNJ11):c.797C>T (p.Pro266Leu) rs1554901679
NM_000525.3(KCNJ11):c.80G>A (p.Arg27His) rs774714794
NM_000525.3(KCNJ11):c.841_843del (p.Leu281del) rs1554901658
NM_000525.3(KCNJ11):c.853G>A (p.Val285Ile) rs149667199
NM_000525.3(KCNJ11):c.970G>A (p.Gly324Arg) rs1193170151
NM_000525.4(KCNJ11):c.463G>A rs587783668
NM_000525.4(KCNJ11):c.79C>T rs752507753
NM_000528.4(MAN2B1):c.-19A>G rs886054234
NM_000528.4(MAN2B1):c.1308_1309+2del rs1555708282
NM_000528.4(MAN2B1):c.1922TCT[1] (p.Phe642del) rs779241409
NM_000528.4(MAN2B1):c.1A>C (p.Met1Leu) rs967834240
NM_000528.4(MAN2B1):c.1A>G (p.Met1Val) rs967834240
NM_000528.4(MAN2B1):c.1A>T (p.Met1Leu) rs967834240
NM_000528.4(MAN2B1):c.1_2del (p.Met1fs) rs1290585382
NM_000528.4(MAN2B1):c.2166-10_2166-2del rs1555706734
NM_000528.4(MAN2B1):c.2402G>A (p.Gly801Asp) rs864621994
NM_000528.4(MAN2B1):c.2484_2485insAAGCCA (p.Leu829_Met830insLysPro) rs1555706406
NM_000528.4(MAN2B1):c.2747G>A (p.Arg916His) rs758765126
NM_000528.4(MAN2B1):c.2782G>C (p.Gly928Arg) rs754733253
NM_000528.4(MAN2B1):c.2885G>A (p.Arg962His) rs750173812
NM_000528.4(MAN2B1):c.2T>A (p.Met1Lys) rs1555710357
NM_000528.4(MAN2B1):c.2T>C (p.Met1Thr) rs1555710357
NM_000528.4(MAN2B1):c.475G>A (p.Asp159Asn) rs864621976
NM_000528.4(MAN2B1):c.598C>A (p.His200Asn) rs772108001
NM_000528.4(MAN2B1):c.784_786del (p.Asn262del) rs1555709511
NM_000642.3(AGL):c.1027C>T (p.Arg343Trp) rs1131691438
NM_000642.3(AGL):c.1266_1268del (p.Lys422_His423delinsAsn) rs1553185488
NM_000642.3(AGL):c.1577A>G (p.Asp526Gly) rs777393482
NM_000642.3(AGL):c.1727TAA[1] (p.Ile577del) rs1361477641
NM_000642.3(AGL):c.1877A>G (p.His626Arg) rs1553186368
NM_000642.3(AGL):c.1879G>T (p.Asp627Tyr) rs1553186370
NM_000642.3(AGL):c.1913ATG[3] (p.Asp639dup) rs1553186447
NM_000642.3(AGL):c.219AGA[1] (p.Glu74del) rs1553183207
NM_000642.3(AGL):c.2318AAG[1] (p.Glu774del) rs766308910
NM_000642.3(AGL):c.2723T>G (p.Leu908Arg) rs772347559
NM_000642.3(AGL):c.2949+2dup rs1553188589
NM_000642.3(AGL):c.2975TCT[1] (p.Phe993del) rs1553188647
NM_000642.3(AGL):c.3083+5_3083+6del rs781189361
NM_000642.3(AGL):c.3191_3193dup (p.Asp1065_Val1066insVal) rs1553188824
NM_000642.3(AGL):c.3259+3A>T rs748859491
NM_000642.3(AGL):c.3290G>A (p.Arg1097His) rs185947256
NM_000642.3(AGL):c.3836+1_3836+2dup rs1553192407
NM_000642.3(AGL):c.4189G>A (p.Ala1397Thr) rs375755924
NM_000642.3(AGL):c.420TGA[1] (p.Asp141del) rs1300198233
NM_000642.3(AGL):c.4465_4467del (p.Tyr1489del) rs1553193523
NM_000642.3(AGL):c.847-7T>A rs750785301
NM_001040716.2(PC):c.1-35661G>T rs1555040359
NM_001040716.2(PC):c.1181T>C (p.Ile394Thr) rs1057520687
NM_001040716.2(PC):c.1185+5_1185+8del rs748620956
NM_001040716.2(PC):c.1225_1227del (p.Asn409del) rs1555023879
NM_001040716.2(PC):c.2605_2610dup (p.Gly869_Gln870dup) rs1555015012
NM_001040716.2(PC):c.2606G>A (p.Gly869Asp) rs1555015018
NM_001040716.2(PC):c.2711TCA[1] (p.Ile905del) rs1555014903
NM_001040716.2(PC):c.2723C>T (p.Thr908Met) rs796052032
NM_001040716.2(PC):c.2974_2976del (p.Lys992del) rs751225998
NM_001040716.2(PC):c.3228CTT[1] (p.Phe1078del) rs1555014068
NM_001040716.2(PC):c.467G>A (p.Arg156Gln) rs119103241
NM_001040716.2(PC):c.584C>T (p.Ala195Val) rs1436643226
NM_001040716.2(PC):c.786G>T (p.Glu262Asp) rs200030109
NM_001040716.2(PC):c.796T>G (p.Ser266Ala) rs113994142
NM_001040716.2(PC):c.806G>A (p.Arg269Gln) rs1349343839
NM_001164277.1(SLC37A4):c.*11G>A rs978301169
NM_001164277.1(SLC37A4):c.*12G>A rs1221264103
NM_001164277.1(SLC37A4):c.*1A>G rs782422570
NM_001164277.1(SLC37A4):c.*5A>G rs373050741
NM_001164277.1(SLC37A4):c.*5A>T rs373050741
NM_001164277.1(SLC37A4):c.*7T>G rs369243698
NM_001164277.1(SLC37A4):c.-10C>G rs782655025
NM_001164277.1(SLC37A4):c.-13G>T rs1555191914
NM_001164277.1(SLC37A4):c.-15C>T rs1210959942
NM_001164277.1(SLC37A4):c.-16C>A rs1555191915
NM_001164277.1(SLC37A4):c.-16C>G rs1555191915
NM_001164277.1(SLC37A4):c.-2C>T rs1318999121
NM_001164277.1(SLC37A4):c.-498G>T rs1555192177
NM_001164277.1(SLC37A4):c.-499C>T rs1236559416
NM_001164277.1(SLC37A4):c.-504G>A rs1045560610
NM_001164277.1(SLC37A4):c.-504G>C rs1045560610
NM_001164277.1(SLC37A4):c.-506A>G rs1555192180
NM_001164277.1(SLC37A4):c.-522G>A rs1375919926
NM_001164277.1(SLC37A4):c.-527C>T rs1290401578
NM_001164277.1(SLC37A4):c.-528C>T rs1555192184
NM_001164277.1(SLC37A4):c.-530G>A rs1417861590
NM_001164277.1(SLC37A4):c.-535G>A rs138523194
NM_001164277.1(SLC37A4):c.-535G>C rs138523194
NM_001164277.1(SLC37A4):c.1018T>G (p.Phe340Val) rs1474838395
NM_001164277.1(SLC37A4):c.1028A>G (p.Tyr343Cys) rs1555190525
NM_001164277.1(SLC37A4):c.1038T>G (p.Ile346Met) rs1555190517
NM_001164277.1(SLC37A4):c.1039G>A (p.Ala347Thr) rs1555190513
NM_001164277.1(SLC37A4):c.103A>G (p.Met35Val) rs782533083
NM_001164277.1(SLC37A4):c.1043T>C (p.Leu348Pro) rs1210588522
NM_001164277.1(SLC37A4):c.1055T>C (p.Ile352Thr) rs1342845276
NM_001164277.1(SLC37A4):c.1057G>T (p.Ala353Ser) rs1555190504
NM_001164277.1(SLC37A4):c.1076C>T (p.Pro359Leu) rs1555190480
NM_001164277.1(SLC37A4):c.1079A>G (p.Asn360Ser) rs782182577
NM_001164277.1(SLC37A4):c.1099G>A (p.Ala367Thr) rs80356492
NM_001164277.1(SLC37A4):c.1115T>C (p.Met372Thr) rs1555190443
NM_001164277.1(SLC37A4):c.1123+4A>G rs1555190440
NM_001164277.1(SLC37A4):c.1124-14T>C rs1555190405
NM_001164277.1(SLC37A4):c.1124-6T>C rs782323567
NM_001164277.1(SLC37A4):c.1124-6T>G rs782323567
NM_001164277.1(SLC37A4):c.1124-8C>T rs1555190404
NM_001164277.1(SLC37A4):c.1142G>C (p.Gly381Ala) rs1157093654
NM_001164277.1(SLC37A4):c.1148C>T (p.Pro383Leu) rs1555190400
NM_001164277.1(SLC37A4):c.1150T>C (p.Phe384Leu) rs1555190399
NM_001164277.1(SLC37A4):c.1154G>C (p.Ser385Thr) rs782603818
NM_001164277.1(SLC37A4):c.1155C>A (p.Ser385Arg) rs1440498520
NM_001164277.1(SLC37A4):c.1165A>G (p.Lys389Glu) rs1555190395
NM_001164277.1(SLC37A4):c.1175G>A (p.Ser392Asn) rs1035199340
NM_001164277.1(SLC37A4):c.1176T>A (p.Ser392Arg) rs782552989
NM_001164277.1(SLC37A4):c.1195G>A (p.Val399Met) rs1555190381
NM_001164277.1(SLC37A4):c.1201G>C (p.Glu401Gln) rs1555190378
NM_001164277.1(SLC37A4):c.1208T>C (p.Ile403Thr) rs1555190374
NM_001164277.1(SLC37A4):c.1211G>C (p.Cys404Ser) rs781818280
NM_001164277.1(SLC37A4):c.1225G>A (p.Ala409Thr) rs886047748
NM_001164277.1(SLC37A4):c.122A>G (p.Glu41Gly) rs782470624
NM_001164277.1(SLC37A4):c.1241T>C (p.Leu414Pro) rs1555190359
NM_001164277.1(SLC37A4):c.1264G>A (p.Gly422Ser) rs1555190347
NM_001164277.1(SLC37A4):c.1268G>T (p.Arg423Leu) rs781849575
NM_001164277.1(SLC37A4):c.1270G>T (p.Val424Leu) rs1438944888
NM_001164277.1(SLC37A4):c.127C>G (p.Pro43Ala) rs781846380
NM_001164277.1(SLC37A4):c.1283C>T (p.Ala428Val) rs1245752008
NM_001164277.1(SLC37A4):c.140A>G (p.Asp47Gly) rs1555191832
NM_001164277.1(SLC37A4):c.149-11G>A rs1555191644
NM_001164277.1(SLC37A4):c.149-3C>T rs782625122
NM_001164277.1(SLC37A4):c.149-6C>G rs1407509189
NM_001164277.1(SLC37A4):c.149-7C>T rs1316874319
NM_001164277.1(SLC37A4):c.158C>T (p.Thr53Ile) rs953252068
NM_001164277.1(SLC37A4):c.160A>G (p.Ser54Gly) rs1555191637
NM_001164277.1(SLC37A4):c.173C>T (p.Ala58Val) rs782083266
NM_001164277.1(SLC37A4):c.178T>C (p.Tyr60His) rs1555191626
NM_001164277.1(SLC37A4):c.184A>G (p.Ile62Val) rs1555191625
NM_001164277.1(SLC37A4):c.185T>G (p.Ile62Ser) rs1555191621
NM_001164277.1(SLC37A4):c.202G>T (p.Gly68Trp) rs193302885
NM_001164277.1(SLC37A4):c.217C>A (p.Gln73Lys) rs1555191604
NM_001164277.1(SLC37A4):c.217C>G (p.Gln73Glu) rs1555191604
NM_001164277.1(SLC37A4):c.224G>C (p.Ser75Thr) rs1555191603
NM_001164277.1(SLC37A4):c.227C>T (p.Ala76Val) rs782429783
NM_001164277.1(SLC37A4):c.22T>C (p.Tyr8His) rs782578166
NM_001164277.1(SLC37A4):c.240C>G (p.Phe80Leu) rs1191615872
NM_001164277.1(SLC37A4):c.263G>T (p.Gly88Val) rs193302886
NM_001164277.1(SLC37A4):c.268G>A (p.Val90Ile) rs1555191582
NM_001164277.1(SLC37A4):c.278T>A (p.Phe93Tyr) rs782563826
NM_001164277.1(SLC37A4):c.282T>G (p.Phe94Leu) rs1555191568
NM_001164277.1(SLC37A4):c.302C>T (p.Pro101Leu) rs1555191550
NM_001164277.1(SLC37A4):c.309T>G (p.Phe103Leu) rs1171686379
NM_001164277.1(SLC37A4):c.332G>A (p.Gly111Asp) rs1356550790
NM_001164277.1(SLC37A4):c.368A>C (p.Lys123Thr) rs1555191517
NM_001164277.1(SLC37A4):c.371T>A (p.Val124Asp) rs1555191510
NM_001164277.1(SLC37A4):c.381+4A>G rs1555191499
NM_001164277.1(SLC37A4):c.382-10T>C rs914753772
NM_001164277.1(SLC37A4):c.382-15C>T rs1555191417
NM_001164277.1(SLC37A4):c.382-3C>G rs1555191407
NM_001164277.1(SLC37A4):c.382-4A>C rs923058912
NM_001164277.1(SLC37A4):c.382-6C>T rs756248657
NM_001164277.1(SLC37A4):c.382T>C (p.Trp128Arg) rs1555191405
NM_001164277.1(SLC37A4):c.382T>G (p.Trp128Gly) rs1555191405
NM_001164277.1(SLC37A4):c.388G>A (p.Glu130Lys) rs1555191401
NM_001164277.1(SLC37A4):c.389A>C (p.Glu130Ala) rs1465764979
NM_001164277.1(SLC37A4):c.402T>G (p.Phe134Leu) rs1555191386
NM_001164277.1(SLC37A4):c.422T>A (p.Leu141Gln) rs1555191378
NM_001164277.1(SLC37A4):c.430A>G (p.Ser144Gly) rs1555191372
NM_001164277.1(SLC37A4):c.44C>T (p.Ser15Leu) rs1555191883
NM_001164277.1(SLC37A4):c.452T>C (p.Leu151Pro) rs1555191353
NM_001164277.1(SLC37A4):c.46G>A (p.Ala16Thr) rs1555191879
NM_001164277.1(SLC37A4):c.479C>G (p.Ala160Gly) rs1438731101
NM_001164277.1(SLC37A4):c.4G>A (p.Ala2Thr) rs1555191907
NM_001164277.1(SLC37A4):c.508G>A (p.Ala170Thr) rs1397362093
NM_001164277.1(SLC37A4):c.520G>A (p.Ala174Thr) rs1432294427
NM_001164277.1(SLC37A4):c.550C>T (p.Leu184Phe) rs1555191258
NM_001164277.1(SLC37A4):c.560T>C (p.Ile187Thr) rs1452797070
NM_001164277.1(SLC37A4):c.570A>T (p.Glu190Asp) rs1555191237
NM_001164277.1(SLC37A4):c.578A>G (p.Asp193Gly) rs777627677
NM_001164277.1(SLC37A4):c.580G>T (p.Val194Phe) rs1041686986
NM_001164277.1(SLC37A4):c.59G>C (p.Gly20Ala) rs193302881
NM_001164277.1(SLC37A4):c.606G>T (p.Met202Ile) rs764654621
NM_001164277.1(SLC37A4):c.611C>G (p.Ser204Cys) rs567419206
NM_001164277.1(SLC37A4):c.625+4A>C rs770644132
NM_001164277.1(SLC37A4):c.625+6C>T rs762685017
NM_001164277.1(SLC37A4):c.625G>C (p.Gly209Arg) rs1272300904
NM_001164277.1(SLC37A4):c.626-12T>C rs1555191134
NM_001164277.1(SLC37A4):c.626-3C>T rs1349289897
NM_001164277.1(SLC37A4):c.679T>C (p.Trp227Arg) rs1176277831
NM_001164277.1(SLC37A4):c.680G>C (p.Trp227Ser) rs1555191101
NM_001164277.1(SLC37A4):c.682G>A (p.Val228Met) rs782167890
NM_001164277.1(SLC37A4):c.703G>C (p.Val235Leu) rs141105181
NM_001164277.1(SLC37A4):c.715G>A (p.Val239Ile) rs1555191080
NM_001164277.1(SLC37A4):c.71A>G (p.Tyr24Cys) rs569831771
NM_001164277.1(SLC37A4):c.721A>G (p.Thr241Ala) rs1555191079
NM_001164277.1(SLC37A4):c.725G>C (p.Cys242Ser) rs1555191077
NM_001164277.1(SLC37A4):c.728G>A (p.Cys243Tyr) rs1555191076
NM_001164277.1(SLC37A4):c.747C>A (p.Phe249Leu) rs782584884
NM_001164277.1(SLC37A4):c.760G>A (p.Glu254Lys) rs1555191060
NM_001164277.1(SLC37A4):c.779T>G (p.Leu260Arg) rs1555191054
NM_001164277.1(SLC37A4):c.785+6A>T rs369358436
NM_001164277.1(SLC37A4):c.7G>C (p.Ala3Pro) rs1555191906
NM_001164277.1(SLC37A4):c.803C>T (p.Ala268Val) rs1029013255
NM_001164277.1(SLC37A4):c.823G>A (p.Val275Ile) rs1226267943
NM_001164277.1(SLC37A4):c.827G>C (p.Gly276Ala) rs1350014866
NM_001164277.1(SLC37A4):c.862A>G (p.Met288Val) rs1555190944
NM_001164277.1(SLC37A4):c.866C>T (p.Ala289Val) rs1555190938
NM_001164277.1(SLC37A4):c.870+5G>A rs1250046397
NM_001164277.1(SLC37A4):c.870+6C>G rs377101167
NM_001164277.1(SLC37A4):c.870+6C>T rs377101167
NM_001164277.1(SLC37A4):c.870G>C (p.Lys290Asn) rs1555190931
NM_001164277.1(SLC37A4):c.871-10G>A rs1555190776
NM_001164277.1(SLC37A4):c.871-11T>C rs1265857875
NM_001164277.1(SLC37A4):c.871-12C>T rs200279011
NM_001164277.1(SLC37A4):c.871-6C>G rs781985446
NM_001164277.1(SLC37A4):c.874G>C (p.Gly292Arg) rs1320796917
NM_001164277.1(SLC37A4):c.877C>A (p.Leu293Met) rs1555190769
NM_001164277.1(SLC37A4):c.884A>G (p.Asn295Ser) rs1555190764
NM_001164277.1(SLC37A4):c.886T>C (p.Tyr296His) rs763008231
NM_001164277.1(SLC37A4):c.886T>G (p.Tyr296Asp) rs763008231
NM_001164277.1(SLC37A4):c.89C>A (p.Thr30Asn) rs987244110
NM_001164277.1(SLC37A4):c.901C>G (p.His301Asp) rs539911116
NM_001164277.1(SLC37A4):c.904G>A (p.Gly302Ser) rs1555190753
NM_001164277.1(SLC37A4):c.920T>C (p.Met307Thr) rs1555190739
NM_001164277.1(SLC37A4):c.923T>C (p.Met308Thr) rs1555190738
NM_001164277.1(SLC37A4):c.925G>A (p.Ala309Thr) rs1335122136
NM_001164277.1(SLC37A4):c.92T>A (p.Phe31Tyr) rs1555191854
NM_001164277.1(SLC37A4):c.931A>G (p.Met311Val) rs957014690
NM_001164277.1(SLC37A4):c.937G>A (p.Val313Met) rs1555190726
NM_001164277.1(SLC37A4):c.93C>G (p.Phe31Leu) rs955402383
NM_001164277.1(SLC37A4):c.958G>A (p.Val320Ile) rs1168556886
NM_001164277.1(SLC37A4):c.958G>T (p.Val320Leu) rs1168556886
NM_001164277.1(SLC37A4):c.984+219T>C rs1555190648
NM_001164277.1(SLC37A4):c.984+240_984+241insTA rs782397393
NM_001164277.1(SLC37A4):c.984+241C>G rs1555190639
NM_001164277.1(SLC37A4):c.984+244T>G rs1555190637
NM_001164277.1(SLC37A4):c.984+259G>A rs1384684015
NM_001164277.1(SLC37A4):c.984+259G>C rs1384684015
NM_001164277.1(SLC37A4):c.984+271A>C rs1313690608
NM_001164277.1(SLC37A4):c.984+3A>G rs782121210
NM_001164277.1(SLC37A4):c.985-11G>A rs1487063543
NM_001164277.1(SLC37A4):c.985-12T>C rs1180556897
NM_001164277.1(SLC37A4):c.985-14T>G rs863224211
NM_001164277.1(SLC37A4):c.985-15C>T rs782640506
NM_001164277.1(SLC37A4):c.985-8C>T rs782425309
NM_001164277.1(SLC37A4):c.985C>A (p.Leu329Ile) rs1555190563
NM_001164277.1(SLC37A4):c.989G>C (p.Trp330Ser) rs782282206
NM_001164277.1(SLC37A4):c.993C>G (p.Ile331Met) rs1555190553
NM_001164277.1(SLC37A4):c.997G>C (p.Val333Leu) rs782443770
NM_001164277.1(SLC37A4):c.99T>G (p.Phe33Leu) rs1555191848
NM_001164277.2(SLC37A4):c.13GGCTAT[3] (p.5GY[3]) rs782663171
NM_001164277.2(SLC37A4):c.637GAG[1] (p.Glu214del) rs1555191121
NM_001164277.2(SLC37A4):c.898C>T rs193302880
NM_001258332.1(GALT):c.-298T>G rs1554709099
NM_001352514.2(HLCS):c.1808A>G (p.Tyr603Cys) rs781603756
NM_001352514.2(HLCS):c.1850T>C (p.Leu617Ser) rs1261821166
NM_001352514.2(HLCS):c.1954G>C (p.Gly652Arg) rs1555885056
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn) rs119103228
NM_001352514.2(HLCS):c.2268_2270del (p.Thr757del) rs1555882090
NM_001352514.2(HLCS):c.2341G>A (p.Asp781Asn) rs149399432
NM_001352514.2(HLCS):c.2501_2503dup (p.Val834dup) rs773191073
NM_001352514.2(HLCS):c.2519G>C (p.Gly840Ala) rs764148793
NM_001352514.2(HLCS):c.2567del (p.Pro856fs) rs1555880930
NM_001352514.2(HLCS):c.2587_2588del (p.Met863fs) rs1555880894
NM_001352514.2(HLCS):c.2611_2614del (p.Lys871fs) rs774356408
NM_001352514.2(HLCS):c.442A>C (p.Met148Leu) rs764841449
NM_001352514.2(HLCS):c.442A>G (p.Met148Val) rs764841449
NM_001352514.2(HLCS):c.941A>C (p.Tyr314Ser) rs778638155
NM_001370658.1(BTD):c.*159G>A rs530872564
NM_001370658.1(BTD):c.-58G>A rs1553646827
NM_001370658.1(BTD):c.-59T>A rs768258310
NM_001370658.1(BTD):c.-59T>C rs768258310
NM_001370658.1(BTD):c.-60A>G rs1553646820
NM_001370658.1(BTD):c.-74G>A rs200884349
NM_001370658.1(BTD):c.1046C>T (p.Pro349Leu) rs397514400
NM_001370658.1(BTD):c.1145A>G (p.Asn382Ser) rs201023772
NM_001370658.1(BTD):c.1151C>T (p.Thr384Ile) rs397514405
NM_001370658.1(BTD):c.1177G>A (p.Gly393Ser) rs374141881
NM_001370658.1(BTD):c.1192T>C (p.Cys398Arg) rs397514408
NM_001370658.1(BTD):c.1207T>C (p.Cys403Arg) rs397514412
NM_001370658.1(BTD):c.1246G>A (p.Glu416Lys) rs749460715
NM_001370658.1(BTD):c.1249C>G (p.Leu417Val) rs1553654107
NM_001370658.1(BTD):c.1274G>A (p.Gly425Glu) rs397514402
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys) rs397514345
NM_001370658.1(BTD):c.1309G>T (p.Val437Leu) rs146600671
NM_001370658.1(BTD):c.1328G>A (p.Cys443Tyr) rs397514421
NM_001370658.1(BTD):c.1333G>T (p.Gly445Cys) rs746099217
NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr) rs181396238
NM_001370658.1(BTD):c.1379G>A (p.Gly460Glu) rs558477960
NM_001370658.1(BTD):c.1395C>G (p.His465Gln) rs201604102
NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr) rs104893692
NM_001370658.1(BTD):c.1421A>G (p.Tyr474Cys) rs750598655
NM_001370658.1(BTD):c.1471C>G (p.Gln491Glu) rs397514427
NM_001370658.1(BTD):c.1503del (p.Arg502fs) rs1163419871
NM_001370658.1(BTD):c.176G>A (p.Arg59His) rs397514343
NM_001370658.1(BTD):c.185C>T (p.Ala62Val) rs397507171
NM_001370658.1(BTD):c.188T>C (p.Leu63Ser) rs397514347
NM_001370658.1(BTD):c.239C>T (p.Ala80Val) rs1553652171
NM_001370658.1(BTD):c.250-15del rs587783008
NM_001370658.1(BTD):c.261T>G (p.Ile87Met) rs1024847163
NM_001370658.1(BTD):c.296A>G (p.Asn99Ser) rs397514353
NM_001370658.1(BTD):c.304A>G (p.Arg102Gly) rs397514354
NM_001370658.1(BTD):c.382C>T (p.Arg128Cys) rs137877018
NM_001370658.1(BTD):c.383G>A (p.Arg128His) rs367902696
NM_001370658.1(BTD):c.409C>T (p.Arg137Cys) rs397514363
NM_001370658.1(BTD):c.425C>T (p.Ala142Val) rs397514364
NM_001370658.1(BTD):c.455A>G (p.Asn152Ser) rs397514366
NM_001370658.1(BTD):c.523A>G (p.Asn175Asp) rs397514370
NM_001370658.1(BTD):c.557TTG[1] (p.Val187del) rs1553653699
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys) rs369102875
NM_001370658.1(BTD):c.572G>A (p.Arg191His) rs112195009
NM_001370658.1(BTD):c.604G>A (p.Asp202Asn) rs200337373
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr) rs397514382
NM_001370658.1(BTD):c.697C>T (p.Pro233Ser) rs397514383
NM_001370658.1(BTD):c.704T>C (p.Ile235Thr) rs397514384
NM_001370658.1(BTD):c.721_723del (p.Tyr241del) rs1553653835
NM_001370658.1(BTD):c.773T>C (p.Leu258Pro) rs397514389
NM_001370658.1(BTD):c.795G>C (p.Gln265His) rs1553653855
NM_001370658.1(BTD):c.806C>T (p.Ala269Val) rs1057520533
NM_001370658.1(BTD):c.862A>C (p.Met288Leu) rs757604137
NM_001370658.1(BTD):c.874G>A (p.Gly292Ser) rs397514396
NM_001370658.1(BTD):c.875G>A (p.Gly292Asp) rs377651057
NM_001370658.1(BTD):c.881A>G (p.His294Arg) rs1553653888
NM_001370658.1(BTD):c.886C>A (p.Pro296Thr) rs1553653894
NM_001370658.1(BTD):c.986A>C (p.Asn329Thr) rs200327983
NM_001467.6(SLC37A4):c.*1_*2AG[2] rs782195068
NM_001467.6(SLC37A4):c.1125-7_1125-6del rs782342989
NM_001467.6(SLC37A4):c.872-15_872-9dup rs782321213
NM_001467.6(SLC37A4):c.986-4del rs1555190566
NM_005609.4(PYGM):c.1129A>T (p.Asn377Tyr) rs954192338
NM_005609.4(PYGM):c.1151C>T (p.Ala384Val) rs1465752595
NM_005609.4(PYGM):c.1193C>T (p.Pro398Leu) rs773204705
NM_005609.4(PYGM):c.1282C>T (p.Arg428Cys) rs750700202
NM_005609.4(PYGM):c.1312_1314dup (p.Lys438dup) rs1555135069
NM_005609.4(PYGM):c.1349C>T (p.Ser450Leu) rs756251887
NM_005609.4(PYGM):c.1463C>A (p.Thr488Asn) rs1555134900
NM_005609.4(PYGM):c.1465C>T (p.Pro489Ser) rs752622662
NM_005609.4(PYGM):c.152ACT[4] (p.Tyr53dup) rs1325298827
NM_005609.4(PYGM):c.2249TCT[1] (p.Phe751del) rs758842259
NM_005609.4(PYGM):c.2312+3G>C rs1555133430
NM_005609.4(PYGM):c.2312G>A (p.Arg771Gln) rs150911354
NM_005609.4(PYGM):c.2527T>A (p.Ter843Arg) rs1400353740
NM_005609.4(PYGM):c.347T>C (p.Leu116Pro) rs776680924
NM_005609.4(PYGM):c.415C>T (p.Arg139Trp) rs367990192
NM_005609.4(PYGM):c.425-26A>G rs764313717
NM_005609.4(PYGM):c.475G>A (p.Gly159Arg) rs760654579
NM_005609.4(PYGM):c.481C>T (p.Arg161Cys) rs200038732
NM_005609.4(PYGM):c.521G>A (p.Gly174Asp) rs1555136375
NM_005609.4(PYGM):c.660G>A (p.Gln220=) rs142234258
NM_005609.4(PYGM):c.67_75del (p.Glu23_Val25del) rs1555136828
NM_005609.4(PYGM):c.736T>C (p.Ser246Pro) rs1555135785
NM_005609.4(PYGM):c.875T>C (p.Leu292Pro) rs780375860
NM_012203.2(GRHPR):c.286_287+1del rs750079140
NM_012203.2(GRHPR):c.403_404+1del rs1554747007
NM_012203.2(GRHPR):c.456_464del (p.Gln153_Thr155del) rs1243273371
NM_012203.2(GRHPR):c.865+2dup rs1218448371
NM_012203.2(GRHPR):c.866-2A>G rs200316691
NM_012203.2(GRHPR):c.867_870dup (p.Leu291fs) rs1554749639
NM_012203.2(GRHPR):c.889G>A (p.Ala297Thr) rs200632069
NM_012203.2(GRHPR):c.935dup (p.Asn312fs) rs1554749668
NM_012203.2(GRHPR):c.954_955del (p.Glu320fs) rs1554749672
NM_012203.2(GRHPR):c.958G>T (p.Glu320Ter) rs1331106064
NM_012203.2(GRHPR):c.964_965del (p.Met322fs) rs1554749707
NM_012203.2(GRHPR):c.986A>G (p.Ter329Trp) rs1554749727
NM_138413.4(HOGA1):c.107C>T (p.Ala36Val) rs201803986
NM_138413.4(HOGA1):c.110G>T (p.Gly37Val) rs772722925
NM_138413.4(HOGA1):c.221T>G (p.Val74Gly) rs796052084
NM_138413.4(HOGA1):c.22TCT[1] (p.Ser9del) rs1554872338
NM_138413.4(HOGA1):c.289C>T (p.Arg97Cys) rs267606762
NM_138413.4(HOGA1):c.337G>A (p.Glu113Lys) rs150702945
NM_138413.4(HOGA1):c.398C>T (p.Ala133Val) rs374367160
NM_138413.4(HOGA1):c.529G>T (p.Asp177Tyr) rs777601935
NM_138413.4(HOGA1):c.535C>A (p.Pro179Thr) rs374327791
NM_138413.4(HOGA1):c.634A>G (p.Thr212Ala) rs779492256
NM_138413.4(HOGA1):c.713del (p.Gly238fs) rs760930050
NM_138413.4(HOGA1):c.745C>G (p.Gln249Glu) rs368276974
NM_138413.4(HOGA1):c.752G>C (p.Cys251Ser) rs886047518
NM_138413.4(HOGA1):c.91AAG[1] (p.Lys32del) rs750736378
NM_138413.4(HOGA1):c.943_954dup (p.Glu315_Arg318dup) rs777828182
NM_152419.3(HGSNAT):c.1012+2dup rs1554533241
NM_152419.3(HGSNAT):c.1209G>T (p.Trp403Cys) rs764206492
NM_152419.3(HGSNAT):c.1270G>A (p.Gly424Ser) rs747616932
NM_152419.3(HGSNAT):c.1466C>A (p.Ala489Glu) rs1554537586
NM_152419.3(HGSNAT):c.1782_1815del (p.Phe595fs) rs1298170960
NM_152419.3(HGSNAT):c.1857G>A (p.Trp619Ter) rs1554538302
NM_152419.3(HGSNAT):c.1863del (p.Ile622fs) rs1554538306
NM_152419.3(HGSNAT):c.199_200insCAT (p.Leu67_Thr68insSer) rs1409093216
NM_152419.3(HGSNAT):c.31_45del (p.Leu11_Ala15del) rs1274083689
NM_152419.3(HGSNAT):c.338T>C (p.Leu113Pro) rs765211666
NM_152419.3(HGSNAT):c.34_54dup (p.Leu12_Leu18dup) rs961025173
NM_152419.3(HGSNAT):c.370A>T (p.Arg124Trp) rs754875934
NM_152419.3(HGSNAT):c.429_432delinsA (p.His143_Asn144delinsGln) rs1554529803
NM_152419.3(HGSNAT):c.55_66dup (p.Ser19_Leu22dup) rs1303048852
NM_152419.3(HGSNAT):c.671_673dup (p.Gly224dup) rs1554531686
NM_152419.3(HGSNAT):c.710C>A (p.Pro237Gln) rs727503962
NM_152419.3(HGSNAT):c.819T>G (p.Asn273Lys) rs1554532014
NM_152419.3(HGSNAT):c.981_983del (p.Ile328del) rs752374933

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