NM_001041.4(SI):c.3218G>A (p.Gly1073Asp)
|
rs121912616
|
0.00150
|
NM_004130.4(GYG1):c.304G>C (p.Asp102His)
|
rs143137713
|
0.00109
|
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val)
|
rs116135678
|
0.00074
|
NM_000203.5(IDUA):c.1577T>C (p.Leu526Pro)
|
rs781136336
|
0.00035
|
NM_000152.5(GAA):c.841C>T (p.Arg281Trp)
|
rs142967546
|
0.00033
|
NM_000434.4(NEU1):c.649G>A (p.Val217Met)
|
rs28940583
|
0.00017
|
NM_000512.5(GALNS):c.850T>G (p.Phe284Val)
|
rs144067930
|
0.00017
|
NM_138413.4(HOGA1):c.107C>T (p.Ala36Val)
|
rs201803986
|
0.00016
|
NM_000642.3(AGL):c.4459C>T (p.Arg1487Ter)
|
rs12118058
|
0.00011
|
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln)
|
rs373190458
|
0.00009
|
NM_005609.4(PYGM):c.425-26A>G
|
rs764313717
|
0.00009
|
NM_021957.4(GYS2):c.495+1G>T
|
rs372079212
|
0.00009
|
NM_000046.5(ARSB):c.667A>G (p.Ile223Val)
|
rs367650121
|
0.00007
|
NM_000154.2(GALK1):c.1036G>A (p.Gly346Ser)
|
rs375690568
|
0.00007
|
NM_000290.4(PGAM2):c.266A>C (p.Glu89Ala)
|
rs104894030
|
0.00007
|
NM_000030.3(AGXT):c.167T>A (p.Ile56Asn)
|
rs180177180
|
0.00006
|
NM_001040716.2(PC):c.1892G>A (p.Arg631Gln)
|
rs113994145
|
0.00006
|
NM_002103.5(GYS1):c.678+1G>A
|
rs755305465
|
0.00006
|
NM_012434.5(SLC17A5):c.719G>A (p.Trp240Ter)
|
rs386833993
|
0.00005
|
NM_000108.5(DLD):c.1382G>A (p.Gly461Glu)
|
rs757275923
|
0.00004
|
NM_000199.5(SGSH):c.1063G>A (p.Glu355Lys)
|
rs766938111
|
0.00004
|
NM_000203.5(IDUA):c.1046A>G (p.Asp349Gly)
|
rs371397270
|
0.00004
|
NM_000352.6(ABCC8):c.4198G>A (p.Gly1400Arg)
|
rs137852676
|
0.00004
|
NM_000512.5(GALNS):c.181C>T (p.Arg61Trp)
|
rs145798311
|
0.00004
|
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys)
|
rs144016984
|
0.00003
|
NM_000158.4(GBE1):c.708G>C (p.Gln236His)
|
rs137852892
|
0.00003
|
NM_000308.4(CTSA):c.601-2A>G
|
rs778159802
|
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_001008216.2(GALE):c.505C>T (p.Arg169Trp)
|
rs137853859
|
0.00003
|
NM_001352514.2(HLCS):c.2121+1G>A
|
rs1175936807
|
0.00003
|
NM_005609.4(PYGM):c.2143C>T (p.Arg715Trp)
|
rs780656375
|
0.00003
|
NM_005609.4(PYGM):c.2352C>A (p.Cys784Ter)
|
rs1057517001
|
0.00003
|
NM_014026.6(DCPS):c.454C>T (p.Arg152Ter)
|
rs904572688
|
0.00003
|
NM_138413.4(HOGA1):c.763C>T (p.Arg255Ter)
|
rs796052086
|
0.00003
|
NM_175914.5(HNF4A):c.1097C>G (p.Pro366Arg)
|
rs193922469
|
0.00003
|
NM_000152.5(GAA):c.1710C>G (p.Asn570Lys)
|
rs765362308
|
0.00002
|
NM_000152.5(GAA):c.971C>T (p.Pro324Leu)
|
rs750030887
|
0.00002
|
NM_000155.4(GALT):c.688-2A>C
|
rs398123185
|
0.00002
|
NM_000404.4(GLB1):c.716C>T (p.Thr239Met)
|
rs746766232
|
0.00002
|
NM_000434.4(NEU1):c.893C>T (p.Ala298Val)
|
rs104893981
|
0.00002
|
NM_000512.5(GALNS):c.245C>T (p.Ser82Leu)
|
rs371429653
|
0.00002
|
NM_000512.5(GALNS):c.986A>C (p.His329Pro)
|
rs760892654
|
0.00002
|
NM_001164277.2(SLC37A4):c.1099G>A (p.Ala367Thr)
|
rs80356492
|
0.00002
|
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val)
|
rs104893686
|
0.00002
|
NM_005908.4(MANBA):c.378+1G>A
|
rs142029636
|
0.00002
|
NM_005908.4(MANBA):c.544C>T (p.Arg182Trp)
|
rs374377679
|
0.00002
|
NM_005908.4(MANBA):c.550-1G>A
|
rs760404534
|
0.00002
|
NM_012203.2(GRHPR):c.735-1G>A
|
rs180177317
|
0.00002
|
NM_012434.5(SLC17A5):c.507del (p.Ala169_Leu170insTer)
|
rs386833992
|
0.00002
|
NM_000030.3(AGXT):c.1084G>A (p.Gly362Ser)
|
rs569643246
|
0.00001
|
NM_000030.3(AGXT):c.116_117dup (p.Ala40fs)
|
rs180177166
|
0.00001
|
NM_000046.5(ARSB):c.691-1G>A
|
rs778868348
|
0.00001
|
NM_000151.4(G6PC1):c.757del (p.Ile253fs)
|
rs2056092619
|
0.00001
|
NM_000151.4(G6PC1):c.808G>C (p.Gly270Arg)
|
rs1272803483
|
0.00001
|
NM_000152.5(GAA):c.1441del (p.Trp481fs)
|
rs1403500889
|
0.00001
|
NM_000152.5(GAA):c.1564C>T (p.Pro522Ser)
|
rs892129065
|
0.00001
|
NM_000152.5(GAA):c.1820G>A (p.Gly607Asp)
|
rs1393386120
|
0.00001
|
NM_000152.5(GAA):c.2236T>G (p.Trp746Gly)
|
rs1479740763
|
0.00001
|
NM_000152.5(GAA):c.2482-2A>G
|
rs756671283
|
0.00001
|
NM_000152.5(GAA):c.671G>A (p.Arg224Gln)
|
rs200210219
|
0.00001
|
NM_000152.5(GAA):c.743T>C (p.Leu248Pro)
|
rs1443844938
|
0.00001
|
NM_000155.4(GALT):c.1014C>G (p.Gly338=)
|
rs111033811
|
0.00001
|
NM_000155.4(GALT):c.601C>T (p.Arg201Cys)
|
rs111033739
|
0.00001
|
NM_000155.4(GALT):c.814C>T (p.Arg272Cys)
|
rs111033766
|
0.00001
|
NM_000155.4(GALT):c.821-7A>G
|
rs767337193
|
0.00001
|
NM_000155.4(GALT):c.982C>T (p.Arg328Cys)
|
rs144993986
|
0.00001
|
NM_000155.4(GALT):c.983G>A (p.Arg328His)
|
rs111033802
|
0.00001
|
NM_000158.4(GBE1):c.1621A>G (p.Asn541Asp)
|
rs1703086906
|
0.00001
|
NM_000158.4(GBE1):c.1883A>G (p.His628Arg)
|
rs137852891
|
0.00001
|
NM_000158.4(GBE1):c.2052+2T>C
|
rs375596642
|
0.00001
|
NM_000162.5(GCK):c.1042A>T (p.Ile348Phe)
|
rs193922260
|
0.00001
|
NM_000162.5(GCK):c.1364T>A (p.Val455Glu)
|
rs753795627
|
0.00001
|
NM_000162.5(GCK):c.787T>C (p.Ser263Pro)
|
rs193922331
|
0.00001
|
NM_000162.5(GCK):c.952G>T (p.Gly318Trp)
|
rs193922340
|
0.00001
|
NM_000181.4(GUSB):c.1084G>A (p.Asp362Asn)
|
rs398123234
|
0.00001
|
NM_000181.4(GUSB):c.1145G>A (p.Arg382His)
|
rs764018631
|
0.00001
|
NM_000199.5(SGSH):c.130G>A (p.Ala44Thr)
|
rs1057521146
|
0.00001
|
NM_000199.5(SGSH):c.448C>T (p.Arg150Trp)
|
rs1479831530
|
0.00001
|
NM_000199.5(SGSH):c.629G>A (p.Trp210Ter)
|
rs886041370
|
0.00001
|
NM_000209.4(PDX1):c.773A>G (p.Glu258Gly)
|
rs193922360
|
0.00001
|
NM_000263.4(NAGLU):c.1021+1G>T
|
rs1447465424
|
0.00001
|
NM_000289.6(PFKM):c.1191+1G>A
|
rs746348793
|
0.00001
|
NM_000308.4(CTSA):c.1123C>T (p.Arg375Ter)
|
rs1189568492
|
0.00001
|
NM_000352.6(ABCC8):c.1671+1G>C
|
rs1057516509
|
0.00001
|
NM_000352.6(ABCC8):c.2202del (p.Ala736fs)
|
rs1554924035
|
0.00001
|
NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter)
|
rs541269678
|
0.00001
|
NM_000352.6(ABCC8):c.76T>A (p.Cys26Ser)
|
rs1462559571
|
0.00001
|
NM_000352.6(ABCC8):c.946G>A (p.Gly316Arg)
|
rs1201126343
|
0.00001
|
NM_000434.4(NEU1):c.692T>A (p.Leu231His)
|
rs762400331
|
0.00001
|
NM_000512.5(GALNS):c.281G>A (p.Arg94His)
|
rs727503946
|
0.00001
|
NM_000528.4(MAN2B1):c.1645-2A>T
|
rs891030696
|
0.00001
|
NM_000528.4(MAN2B1):c.222C>A (p.Asp74Glu)
|
rs746702002
|
0.00001
|
NM_000545.8(HNF1A):c.1663C>T (p.Leu555Phe)
|
rs193922587
|
0.00001
|
NM_000642.3(AGL):c.94C>T (p.Gln32Ter)
|
rs786204489
|
0.00001
|
NM_001040616.3(LINS1):c.1178T>G (p.Leu393Ter)
|
rs149644940
|
0.00001
|
NM_001164277.2(SLC37A4):c.381+2T>G
|
rs782645078
|
0.00001
|
NM_001164277.2(SLC37A4):c.448G>A (p.Gly150Arg)
|
rs193302883
|
0.00001
|
NM_001164277.2(SLC37A4):c.652C>T (p.Gln218Ter)
|
rs551439289
|
0.00001
|
NM_001352514.2(HLCS):c.1850T>C (p.Leu617Ser)
|
rs1261821166
|
0.00001
|
NM_001370658.1(BTD):c.-17+2T>C
|
rs745648160
|
0.00001
|
NM_001370658.1(BTD):c.250-15del
|
rs587783008
|
0.00001
|
NM_001370658.1(BTD):c.704T>C (p.Ile235Thr)
|
rs397514384
|
0.00001
|
NM_002863.5(PYGL):c.2024C>T (p.Ser675Leu)
|
rs113993986
|
0.00001
|
NM_004830.4(MED23):c.3353C>G (p.Ser1118Ter)
|
rs769471341
|
0.00001
|
NM_005609.4(PYGM):c.1147G>A (p.Glu383Lys)
|
rs757681143
|
0.00001
|
NM_005609.4(PYGM):c.1963G>A (p.Glu655Lys)
|
rs119103253
|
0.00001
|
NM_006765.4(TUSC3):c.220C>T (p.Arg74Ter)
|
rs1251881194
|
0.00001
|
NM_006859.4(LIAS):c.100A>T (p.Lys34Ter)
|
rs764858363
|
0.00001
|
NM_012203.2(GRHPR):c.337G>A (p.Glu113Lys)
|
rs180177307
|
0.00001
|
NM_012434.5(SLC17A5):c.1259+1G>A
|
rs146095590
|
0.00001
|
NM_012434.5(SLC17A5):c.1355_1356insAA (p.Val453fs)
|
rs1234745577
|
0.00001
|
NM_018255.4(ELP2):c.617A>G (p.His206Arg)
|
rs773432002
|
0.00001
|
NM_152419.3(HGSNAT):c.1445T>A (p.Met482Lys)
|
rs121908284
|
0.00001
|
NM_175914.5(HNF4A):c.925C>T (p.Arg309Cys)
|
rs193922479
|
0.00001
|
HNF4A deletion
|
|
|
NC_000003.11:g.(?_81538849)_(81539615_81548260)del
|
|
|
NC_000004.11:g.(103635719_103644027)_(103645125_103647745)del
|
|
|
NC_000005.9:g.(78135250_78181406)_(78181651_78251117)dup
|
|
|
NC_000006.11:g.(?_74303101)_(74310165_74320122)del
|
|
|
NC_000008.10:g.(43024386_43025727)_(43027530_43028855)del
|
|
|
NC_000011.9:g.(34953032_34969052)_(34999730_35006116)del
|
|
|
NC_000011.9:g.(34988362_34991685)_(34991834_34999670)del
|
|
|
NC_000011.9:g.(?_64513860)_(64514831_64517847)del
|
|
|
NC_000016.9:g.(87925561_87935517)_(87970113_?)del
|
|
|
NC_000017.10:g.(73754681_73758784)_(73761281_?)del
|
|
|
NM_000027.4(AGA):c.39del (p.Leu15fs)
|
|
|
NM_000027.4(AGA):c.3G>A (p.Met1Ile)
|
|
|
NM_000027.4(AGA):c.508-2A>C
|
|
|
NM_000030.3(AGXT):c.165+1G>T
|
|
|
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg)
|
rs34116584
|
|
NM_000030.3(AGXT):c.662_664del (p.Ser221del)
|
rs796052071
|
|
NM_000035.4(ALDOB):c.113-1_115del
|
rs786204598
|
|
NM_000035.4(ALDOB):c.250del (p.Leu84fs)
|
rs1831190354
|
|
NM_000035.4(ALDOB):c.324G>A (p.Lys108=)
|
rs750026492
|
|
NM_000035.4(ALDOB):c.379+1G>A
|
rs138121153
|
|
NM_000035.4(ALDOB):c.541-277_651del
|
|
|
NM_000035.4(ALDOB):c.625-2A>G
|
rs786204503
|
|
NM_000035.4(ALDOB):c.686T>C (p.Leu229Pro)
|
rs1554702433
|
|
NM_000046.5(ARSB):c.1213+6T>C
|
rs1554074118
|
|
NM_000046.5(ARSB):c.1214-2A>G
|
rs1554069808
|
|
NM_000046.5(ARSB):c.1299dup (p.Arg434Ter)
|
rs1355071930
|
|
NM_000046.5(ARSB):c.1325C>T (p.Thr442Met)
|
rs1057520739
|
|
NM_000046.5(ARSB):c.1394C>G (p.Ser465Ter)
|
rs1209412483
|
|
NM_000046.5(ARSB):c.245T>C (p.Leu82Pro)
|
|
|
NM_000046.5(ARSB):c.253TAC[1] (p.Tyr86del)
|
rs969231209
|
|
NM_000046.5(ARSB):c.312+2T>G
|
|
|
NM_000108.5(DLD):c.1058T>C (p.Ile353Thr)
|
rs2116271469
|
|
NM_000108.5(DLD):c.268-1G>A
|
|
|
NM_000147.5(FUCA1):c.1289_1301del (p.Leu430fs)
|
|
|
NM_000147.5(FUCA1):c.952G>T (p.Glu318Ter)
|
rs201499886
|
|
NM_000151.4(G6PC1):c.247C>A (p.Arg83Ser)
|
|
|
NM_000151.4(G6PC1):c.479G>A (p.Trp160Ter)
|
rs2056081522
|
|
NM_000151.4(G6PC1):c.706T>A (p.Trp236Arg)
|
rs2056092151
|
|
NM_000151.4(G6PC1):c.764C>T (p.Thr255Ile)
|
rs2056092654
|
|
NM_000152.5(GAA):c.1190C>T (p.Pro397Leu)
|
rs776008078
|
|
NM_000152.5(GAA):c.1716C>G (p.His572Gln)
|
rs772962666
|
|
NM_000152.5(GAA):c.1748C>T (p.Ser583Phe)
|
rs2143883845
|
|
NM_000152.5(GAA):c.1802C>G (p.Ser601Trp)
|
rs374470794
|
|
NM_000152.5(GAA):c.1841C>T (p.Thr614Met)
|
rs369531647
|
|
NM_000152.5(GAA):c.1951_1952delinsT (p.Gly651fs)
|
rs1567835781
|
|
NM_000152.5(GAA):c.1952del (p.Gly651fs)
|
rs1567835775
|
|
NM_000152.5(GAA):c.2167G>A (p.Val723Met)
|
rs767247397
|
|
NM_000152.5(GAA):c.307T>C (p.Cys103Arg)
|
rs398123174
|
|
NM_000152.5(GAA):c.3G>A (p.Met1Ile)
|
rs1187796945
|
|
NM_000152.5(GAA):c.836G>A (p.Trp279Ter)
|
rs2039122730
|
|
NM_000152.5(GAA):c.858+2T>A
|
rs1555599713
|
|
NM_000152.5(GAA):c.953T>A (p.Met318Lys)
|
rs121907936
|
|
NM_000152.5(GAA):c.956-5_957del
|
|
|
NM_000154.2(GALK1):c.686dup (p.His229fs)
|
|
|
NM_000155.4(GALT):c.1052del (p.Pro351fs)
|
rs111033813
|
|
NM_000155.4(GALT):c.1060-1G>A
|
rs367543268
|
|
NM_000155.4(GALT):c.213dup (p.Asn72fs)
|
|
|
NM_000155.4(GALT):c.221T>C (p.Leu74Pro)
|
rs111033663
|
|
NM_000155.4(GALT):c.385A>T (p.Met129Leu)
|
rs193922248
|
|
NM_000155.4(GALT):c.424A>G (p.Met142Val)
|
rs111033692
|
|
NM_000155.4(GALT):c.552C>A (p.His184Gln)
|
rs111033717
|
|
NM_000155.4(GALT):c.598C>T (p.Gln200Ter)
|
rs1564101619
|
|
NM_000155.4(GALT):c.598del (p.Gln200fs)
|
rs111033738
|
|
NM_000155.4(GALT):c.652del (p.Leu217_Leu218insTer)
|
rs111033742
|
|
NM_000155.4(GALT):c.687+1G>T
|
rs193922250
|
|
NM_000155.4(GALT):c.761dup (p.Leu255fs)
|
rs747036550
|
|
NM_000155.4(GALT):c.776G>A (p.Arg259Gln)
|
rs886042070
|
|
NM_000155.4(GALT):c.888C>G (p.Tyr296Ter)
|
rs1554709447
|
|
NM_000158.4(GBE1):c.1245_1258del (p.Gly416fs)
|
rs1703800818
|
|
NM_000158.4(GBE1):c.1336-1G>A
|
rs375253942
|
|
NM_000158.4(GBE1):c.1543C>T (p.Arg515Cys)
|
rs80338672
|
|
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.1018A>G (p.Ser340Gly)
|
rs193922255
|
|
NM_000162.5(GCK):c.1020-1G>C
|
rs193922258
|
|
NM_000162.5(GCK):c.103A>T (p.Arg35Ter)
|
rs193922259
|
|
NM_000162.5(GCK):c.107G>C (p.Arg36Pro)
|
rs193922261
|
|
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.1136C>A (p.Ala379Glu)
|
rs193922265
|
|
NM_000162.5(GCK):c.1153G>A (p.Gly385Arg)
|
rs193922267
|
|
NM_000162.5(GCK):c.1157T>C (p.Leu386Pro)
|
rs193922268
|
|
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.1169T>A (p.Ile390Asn)
|
rs193921340
|
|
NM_000162.5(GCK):c.1169T>C (p.Ile390Thr)
|
rs193921340
|
|
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.1240A>G (p.Lys414Glu)
|
rs193922272
|
|
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.1283_1284del (p.Arg428fs)
|
rs193922275
|
|
NM_000162.5(GCK):c.1289T>C (p.Leu430Pro)
|
rs193922277
|
|
NM_000162.5(GCK):c.1307T>A (p.Ile436Asn)
|
rs193922278
|
|
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.1345G>A (p.Ala449Thr)
|
rs193922282
|
|
NM_000162.5(GCK):c.1354G>C (p.Val452Leu)
|
|
|
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.175C>T (p.Pro59Ser)
|
rs193922287
|
|
NM_000162.5(GCK):c.253A>T (p.Arg85Trp)
|
rs193922290
|
|
NM_000162.5(GCK):c.304A>T (p.Lys102Ter)
|
rs193922291
|
|
NM_000162.5(GCK):c.322T>G (p.Tyr108Asp)
|
rs193922292
|
|
NM_000162.5(GCK):c.393del (p.Asp132fs)
|
rs193922295
|
|
NM_000162.5(GCK):c.449T>C (p.Phe150Ser)
|
rs193922297
|
|
NM_000162.5(GCK):c.463A>G (p.Arg155Gly)
|
rs193922301
|
|
NM_000162.5(GCK):c.483G>A (p.Lys161=)
|
rs193922302
|
|
NM_000162.5(GCK):c.509G>T (p.Gly170Val)
|
rs193922303
|
|
NM_000162.5(GCK):c.527C>G (p.Ala176Gly)
|
rs193922304
|
|
NM_000162.5(GCK):c.532G>A (p.Gly178Arg)
|
rs193922305
|
|
NM_000162.5(GCK):c.542T>C (p.Val181Ala)
|
rs193922306
|
|
NM_000162.5(GCK):c.563C>T (p.Ala188Val)
|
rs193922307
|
|
NM_000162.5(GCK):c.57C>G (p.Ile19Met)
|
rs193922308
|
|
NM_000162.5(GCK):c.587A>G (p.Glu196Gly)
|
rs193922309
|
|
NM_000162.5(GCK):c.604A>G (p.Met202Val)
|
rs193922310
|
|
NM_000162.5(GCK):c.615C>G (p.Asp205Glu)
|
rs193922312
|
|
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.658T>C (p.Cys220Arg)
|
rs193922315
|
|
NM_000162.5(GCK):c.659G>A (p.Cys220Tyr)
|
rs193922316
|
|
NM_000162.5(GCK):c.677T>C (p.Val226Ala)
|
rs193922319
|
|
NM_000162.5(GCK):c.679+1del
|
rs193922320
|
|
NM_000162.5(GCK):c.694G>A (p.Ala232Thr)
|
rs193922322
|
|
NM_000162.5(GCK):c.704T>C (p.Met235Thr)
|
rs193922323
|
|
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.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.76C>T (p.Gln26Ter)
|
rs193922329
|
|
NM_000162.5(GCK):c.779T>C (p.Phe260Ser)
|
rs193922330
|
|
NM_000162.5(GCK):c.812T>C (p.Leu271Pro)
|
rs193922332
|
|
NM_000162.5(GCK):c.833A>T (p.Asp278Val)
|
rs193922333
|
|
NM_000162.5(GCK):c.863+1G>A
|
rs1376796469
|
|
NM_000162.5(GCK):c.907C>T (p.Arg303Trp)
|
rs193922336
|
|
NM_000162.5(GCK):c.917T>C (p.Leu306Pro)
|
rs193922337
|
|
NM_000162.5(GCK):c.947T>A (p.Phe316Tyr)
|
rs193922339
|
|
NM_000175.5(GPI):c.1269+1G>A
|
|
|
NM_000181.4(GUSB):c.1192C>T (p.Arg398Cys)
|
|
|
NM_000181.4(GUSB):c.406G>A (p.Gly136Arg)
|
|
|
NM_000181.4(GUSB):c.724+1G>T
|
rs2116026958
|
|
NM_000199.5(SGSH):c.1000dup (p.Ala334fs)
|
|
|
NM_000199.5(SGSH):c.1153del (p.Arg385fs)
|
rs2041615714
|
|
NM_000199.5(SGSH):c.693_705del (p.Ala232fs)
|
rs2041772144
|
|
NM_000202.8(IDS):c.1269del (p.Val424fs)
|
|
|
NM_000202.8(IDS):c.1400C>G (p.Pro467Arg)
|
rs1602725808
|
|
NM_000202.8(IDS):c.1439C>T (p.Pro480Leu)
|
rs2123994251
|
|
NM_000202.8(IDS):c.143G>C (p.Arg48Pro)
|
rs1569560528
|
|
NM_000202.8(IDS):c.419-1G>A
|
rs1557339927
|
|
NM_000203.5(IDUA):c.1269C>A (p.Ser423Arg)
|
rs931627770
|
|
NM_000203.5(IDUA):c.1282C>T (p.Gln428Ter)
|
|
|
NM_000203.5(IDUA):c.1395del (p.Gly466fs)
|
rs1386109118
|
|
NM_000203.5(IDUA):c.1475G>C (p.Arg492Pro)
|
rs121965026
|
|
NM_000203.5(IDUA):c.1695_1705del (p.Leu566fs)
|
rs1220371654
|
|
NM_000203.5(IDUA):c.1827_1828+4delinsTGTGT
|
|
|
NM_000203.5(IDUA):c.1858G>T (p.Val620Phe)
|
rs2153023278
|
|
NM_000203.5(IDUA):c.1893del (p.Phe632fs)
|
rs1553917754
|
|
NM_000203.5(IDUA):c.1907_1917del (p.Val636fs)
|
rs1715314710
|
|
NM_000203.5(IDUA):c.306del (p.Thr103fs)
|
rs1461124319
|
|
NM_000203.5(IDUA):c.326_331del (p.Tyr109_Asn110del)
|
|
|
NM_000203.5(IDUA):c.3G>A (p.Met1Ile)
|
rs1553914740
|
|
NM_000203.5(IDUA):c.457A>T (p.Lys153Ter)
|
rs1715035049
|
|
NM_000203.5(IDUA):c.512_513del (p.His171fs)
|
rs1715069355
|
|
NM_000203.5(IDUA):c.60_61delinsA (p.Pro22fs)
|
rs1553914762
|
|
NM_000203.5(IDUA):c.65del (p.Pro22fs)
|
rs1560531755
|
|
NM_000209.4(PDX1):c.442C>G (p.Arg148Gly)
|
rs193922355
|
|
NM_000209.4(PDX1):c.571A>C (p.Lys191Gln)
|
rs193922356
|
|
NM_000263.4(NAGLU):c.2113G>A (p.Glu705Lys)
|
rs1364203992
|
|
NM_000263.4(NAGLU):c.229_236del (p.Val77fs)
|
rs2143076634
|
|
NM_000263.4(NAGLU):c.461T>G (p.Ile154Arg)
|
rs770684838
|
|
NM_000263.4(NAGLU):c.680A>C (p.His227Pro)
|
rs747155746
|
|
NM_000284.4(PDHA1):c.1050_1133dup (p.Gln351_Arg378dup)
|
rs1555935486
|
|
NM_000289.6(PFKM):c.238-3A>G
|
|
|
NM_000308.4(CTSA):c.112del (p.Leu38fs)
|
rs1241378191
|
|
NM_000340.2(SLC2A2):c.59G>A (p.Gly20Asp)
|
|
|
NM_000352.6(ABCC8):c.1616A>G (p.Tyr539Cys)
|
rs193922397
|
|
NM_000352.6(ABCC8):c.1630+1G>A
|
|
|
NM_000352.6(ABCC8):c.19G>C (p.Gly7Arg)
|
|
|
NM_000352.6(ABCC8):c.2693G>A (p.Trp898Ter)
|
rs1382448285
|
|
NM_000352.6(ABCC8):c.3400-1G>A
|
rs576684889
|
|
NM_000352.6(ABCC8):c.3448_3449del (p.Val1150fs)
|
rs1263082097
|
|
NM_000352.6(ABCC8):c.4153T>C (p.Ser1385Pro)
|
rs2133402479
|
|
NM_000352.6(ABCC8):c.4288del (p.Leu1430fs)
|
rs2133400786
|
|
NM_000352.6(ABCC8):c.4451G>A (p.Gly1484Glu)
|
rs193922405
|
|
NM_000352.6(ABCC8):c.580-2A>G
|
|
|
NM_000352.6(ABCC8):c.805del (p.Ala269fs)
|
rs1564976749
|
|
NM_000404.4(GLB1):c.1144-2A>G
|
rs1553607014
|
|
NM_000404.4(GLB1):c.395T>C (p.Met132Thr)
|
rs1553612189
|
|
NM_000404.4(GLB1):c.733+2T>C
|
rs1699291583
|
|
NM_000434.4(NEU1):c.1004C>A (p.Pro335Gln)
|
|
|
NM_000434.4(NEU1):c.1021C>G (p.Arg341Gly)
|
|
|
NM_000434.4(NEU1):c.163C>T (p.Gln55Ter)
|
|
|
NM_000458.4(HNF1B):c.1006C>T (p.His336Tyr)
|
|
|
NM_000458.4(HNF1B):c.1325T>C (p.Met442Thr)
|
|
|
NM_000458.4(HNF1B):c.221T>A (p.Leu74Ter)
|
|
|
NM_000458.4(HNF1B):c.344G>A (p.Ser115Asn)
|
|
|
NM_000458.4(HNF1B):c.345-1G>T
|
|
|
NM_000458.4(HNF1B):c.477del (p.Pro159_Met160insTer)
|
|
|
NM_000458.4(HNF1B):c.511T>C (p.Trp171Arg)
|
|
|
NM_000458.4(HNF1B):c.703C>T (p.Arg235Trp)
|
|
|
NM_000458.4(HNF1B):c.949G>T (p.Ala317Ser)
|
|
|
NM_000458.4(HNF1B):c.962A>G (p.Asn321Ser)
|
|
|
NM_000507.4(FBP1):c.881G>T (p.Gly294Val)
|
|
|
NM_000512.5(GALNS):c.143T>G (p.Val48Gly)
|
rs191519947
|
|
NM_000512.5(GALNS):c.489del (p.Asn164fs)
|
rs1328983959
|
|
NM_000512.5(GALNS):c.775C>T (p.Arg259Trp)
|
rs61742258
|
|
NM_000512.5(GALNS):c.899-2A>G
|
rs1165218506
|
|
NM_000512.5(GALNS):c.916T>G (p.Phe306Val)
|
rs2142999207
|
|
NM_000528.4(MAN2B1):c.1929-2A>G
|
rs2023856348
|
|
NM_000528.4(MAN2B1):c.2398G>C (p.Gly800Arg)
|
rs398123456
|
|
NM_000528.4(MAN2B1):c.2747G>A (p.Arg916His)
|
rs758765126
|
|
NM_000528.4(MAN2B1):c.2802dup (p.Val935fs)
|
rs1057516864
|
|
NM_000528.4(MAN2B1):c.590C>G (p.Pro197Arg)
|
rs864621977
|
|
NM_000545.8(HNF1A):c.1129del (p.Leu377fs)
|
rs193922576
|
|
NM_000545.8(HNF1A):c.1265T>C (p.Leu422Pro)
|
rs193922577
|
|
NM_000545.8(HNF1A):c.1345_1346insG (p.Ile449fs)
|
rs2135847490
|
|
NM_000545.8(HNF1A):c.139_155del (p.Gly47fs)
|
rs2135819737
|
|
NM_000545.8(HNF1A):c.1506_1507dup (p.Tyr503fs)
|
rs193922582
|
|
NM_000545.8(HNF1A):c.169del (p.Leu57fs)
|
rs193922588
|
|
NM_000545.8(HNF1A):c.1766dup (p.Val590fs)
|
|
|
NM_000545.8(HNF1A):c.1A>G (p.Met1Val)
|
rs193922592
|
|
NM_000545.8(HNF1A):c.281C>T (p.Pro94Leu)
|
rs193922593
|
|
NM_000545.8(HNF1A):c.313dup (p.Glu105fs)
|
rs193922594
|
|
NM_000545.8(HNF1A):c.369GCA[4] (p.Gln125dup)
|
rs193922596
|
|
NM_000545.8(HNF1A):c.441C>A (p.His147Gln)
|
rs193922597
|
|
NM_000545.8(HNF1A):c.518_526+37del
|
rs386134267
|
|
NM_000545.8(HNF1A):c.52G>T (p.Glu18Ter)
|
rs1876084046
|
|
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.731G>T (p.Arg244Ile)
|
rs193922602
|
|
NM_000545.8(HNF1A):c.734G>T (p.Gly245Val)
|
rs193922603
|
|
NM_000545.8(HNF1A):c.790G>T (p.Val264Phe)
|
rs193922604
|
|
NM_000545.8(HNF1A):c.803T>C (p.Phe268Ser)
|
rs193922605
|
|
NM_000545.8(HNF1A):c.872C>G (p.Pro291Arg)
|
rs193922606
|
|
NM_000642.3(AGL):c.1405C>T (p.Arg469Ter)
|
rs766536350
|
|
NM_000642.3(AGL):c.1437C>A (p.Tyr479Ter)
|
rs140095668
|
|
NM_000642.3(AGL):c.214_215del (p.Glu72fs)
|
rs754978531
|
|
NM_000642.3(AGL):c.2155C>T (p.Gln719Ter)
|
rs1652018859
|
|
NM_000642.3(AGL):c.2433+1G>A
|
rs2100768428
|
|
NM_000642.3(AGL):c.293+1del
|
rs777857395
|
|
NM_000642.3(AGL):c.4422del (p.Ala1475fs)
|
rs1286364615
|
|
NM_000642.3(AGL):c.535_538del (p.Leu179fs)
|
rs794727706
|
|
NM_000925.4(PDHB):c.310T>G (p.Leu104Val)
|
rs201199166
|
|
NM_000925.4(PDHB):c.818del (p.Pro273fs)
|
|
|
NM_001008216.2(GALE):c.1004G>A (p.Arg335His)
|
|
|
NM_001008216.2(GALE):c.207C>A (p.Asp69Glu)
|
rs1261697960
|
|
NM_001040616.3(LINS1):c.631+1G>A
|
|
|
NM_001160372.4(TRAPPC9):c.1928del (p.Tyr643fs)
|
|
|
NM_001164277.2(SLC37A4):c.1019_1038del (p.Phe340fs)
|
rs1943525176
|
|
NM_001164277.2(SLC37A4):c.148+2T>A
|
|
|
NM_001164277.2(SLC37A4):c.148G>A (p.Gly50Arg)
|
|
|
NM_001164277.2(SLC37A4):c.234G>A (p.Trp78Ter)
|
rs781857990
|
|
NM_001164277.2(SLC37A4):c.681G>A (p.Trp227Ter)
|
rs2134635160
|
|
NM_001164277.2(SLC37A4):c.872-2A>C
|
rs920196110
|
|
NM_001352514.2(HLCS):c.1275_1283delinsTGAGCACT (p.Val427fs)
|
|
|
NM_001352514.2(HLCS):c.569_585delinsTTGCTTGAGATTAAGCCTGAGATTAAGG (p.Pro190_Ser195delinsLeuAlaTer)
|
rs1064796014
|
|
NM_001360016.2(G6PD):c.1375C>G (p.Arg459Gly)
|
|
|
NM_001370658.1(BTD):c.-17_-17+3del
|
rs1050514843
|
|
NM_001370658.1(BTD):c.1211G>A (p.Cys404Tyr)
|
rs397514335
|
|
NM_001370658.1(BTD):c.270del (p.Pro91fs)
|
|
|
NM_001370658.1(BTD):c.399G>A (p.Glu133=)
|
rs397514360
|
|
NM_001370658.1(BTD):c.59T>C (p.Leu20Pro)
|
|
|
NM_001370658.1(BTD):c.755G>A (p.Trp252Ter)
|
rs148031701
|
|
NM_001370658.1(BTD):c.920dup (p.Asn307fs)
|
|
|
NM_001807.6(CEL):c.1776del (p.Val593fs)
|
rs193922638
|
|
NM_002076.4(GNS):c.714G>A (p.Trp238Ter)
|
|
|
NM_004130.4(GYG1):c.7+2T>C
|
|
|
NM_005609.4(PYGM):c.1044_1050dup (p.Met351fs)
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|
|
NM_005609.4(PYGM):c.1797del (p.Phe599fs)
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rs769960481
|
|
NM_005609.4(PYGM):c.21_28dup (p.Lys10fs)
|
rs770037766
|
|
NM_005908.4(MANBA):c.1540_1541del (p.Val514fs)
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rs775574131
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NM_005908.4(MANBA):c.1753C>T (p.Arg585Ter)
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|
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NM_005908.4(MANBA):c.273-1G>A
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NM_005908.4(MANBA):c.916del (p.Leu306fs)
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|
|
NM_006516.4(SLC2A1):c.458G>C (p.Arg153Pro)
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rs794727642
|
|
NM_006618.5(KDM5B):c.2945+1G>A
|
rs2102232815
|
|
NM_012203.2(GRHPR):c.206_214+11del
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|
|
NM_012203.2(GRHPR):c.603dup (p.Thr202fs)
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|
|
NM_012434.5(SLC17A5):c.43G>T (p.Glu15Ter)
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rs727504157
|
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NM_012434.5(SLC17A5):c.738G>A (p.Trp246Ter)
|
rs755923873
|
|
NM_014026.6(DCPS):c.856G>T (p.Glu286Ter)
|
|
|
NM_014168.4(METTL5):c.541+1G>C
|
rs1467526653
|
|
NM_015275.3(WASHC4):c.1374del (p.Met458fs)
|
|
|
NM_015275.3(WASHC4):c.2133dup (p.Ser712fs)
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|
|
NM_017721.5(CC2D1A):c.61-2A>G
|
|
|
NM_017755.6(NSUN2):c.790C>T (p.Arg264Ter)
|
rs868442196
|
|
NM_031229.4(RBCK1):c.582+1G>A
|
rs1017046170
|
|
NM_033159.4(HYAL1):c.586_598del (p.Arg196fs)
|
rs1702201097
|
|
NM_144563.3(RPIA):c.253G>A (p.Ala85Thr)
|
rs1399404493
|
|
NM_145262.4(GLYCTK):c.1057del (p.His353fs)
|
rs1700517033
|
|
NM_145262.4(GLYCTK):c.37C>T (p.Arg13Ter)
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|
|
NM_152419.3(HGSNAT):c.1267G>T (p.Gly423Trp)
|
rs1064795522
|
|
NM_152419.3(HGSNAT):c.1270G>A (p.Gly424Ser)
|
rs747616932
|
|
NM_152419.3(HGSNAT):c.947G>A (p.Trp316Ter)
|
rs1554533211
|
|
NM_175914.5(HNF4A):c.1187G>C (p.Cys396Ser)
|
rs193922470
|
|
NM_175914.5(HNF4A):c.200G>A (p.Arg67Gln)
|
rs1555813319
|
|
NM_175914.5(HNF4A):c.281_282delinsC (p.Arg94fs)
|
rs193922471
|
|
NM_175914.5(HNF4A):c.470AGA[1] (p.Lys158del)
|
rs1280663753
|
|
NM_175914.5(HNF4A):c.553G>C (p.Ala185Pro)
|
rs193922474
|
|
NM_175914.5(HNF4A):c.575_582+10del
|
rs193922475
|
|
NM_175914.5(HNF4A):c.660_662delinsTCAA (p.Leu221fs)
|
rs193922476
|
|
Single allele
|
|
|
p.X466Trp
|
|
|