NM_001370658.1(BTD):c.1270G>C (p.Asp424His)
|
rs13078881
|
0.03225
|
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys)
|
rs121434529
|
0.00225
|
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp)
|
rs121912616
|
0.00150
|
NM_001041.4(SI):c.1730T>G (p.Val577Gly)
|
rs121912615
|
0.00131
|
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe)
|
rs374550999
|
0.00093
|
NM_001041.4(SI):c.4099A>G (p.Arg1367Gly)
|
rs143388292
|
0.00034
|
NM_000152.5(GAA):c.841C>T (p.Arg281Trp)
|
rs142967546
|
0.00033
|
NM_001041.4(SI):c.4251T>G (p.Tyr1417Ter)
|
rs142090504
|
0.00014
|
NM_003041.4(SLC5A2):c.885+5G>A
|
rs200228142
|
0.00014
|
NM_000152.5(GAA):c.853C>T (p.Pro285Ser)
|
rs886042086
|
0.00008
|
NM_000402.4(G6PD):c.185A>G (p.His62Arg)
|
rs137852340
|
0.00008
|
NM_000404.4(GLB1):c.1325G>A (p.Arg442Gln)
|
rs564428355
|
0.00008
|
NM_138413.4(HOGA1):c.569C>T (p.Pro190Leu)
|
rs202047589
|
0.00007
|
NM_000404.4(GLB1):c.1733A>G (p.Lys578Arg)
|
rs371582179
|
0.00006
|
NM_012203.2(GRHPR):c.734+1G>A
|
rs148049120
|
0.00006
|
NM_000030.3(AGXT):c.353G>A (p.Arg118His)
|
rs138025751
|
0.00005
|
NM_001370658.1(BTD):c.383G>A (p.Arg128His)
|
rs367902696
|
0.00005
|
NM_000046.5(ARSB):c.971G>T (p.Gly324Val)
|
rs398123125
|
0.00004
|
NM_000151.4(G6PC1):c.328G>A (p.Glu110Lys)
|
rs104894567
|
0.00004
|
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu)
|
rs148842275
|
0.00004
|
NM_000152.5(GAA):c.784G>A (p.Glu262Lys)
|
rs201896815
|
0.00004
|
NM_000181.4(GUSB):c.1617C>T (p.Ser539=)
|
rs377519272
|
0.00004
|
NM_000199.5(SGSH):c.1297C>T (p.Arg433Trp)
|
rs777267343
|
0.00004
|
NM_000352.6(ABCC8):c.62T>A (p.Val21Asp)
|
rs200670692
|
0.00004
|
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp)
|
rs137852331
|
0.00004
|
NM_001164277.2(SLC37A4):c.1243C>T (p.Arg415Ter)
|
rs121908979
|
0.00004
|
NM_001352514.2(HLCS):c.2434C>T (p.Arg812Ter)
|
rs146448211
|
0.00004
|
NM_001370658.1(BTD):c.873del (p.Ser291fs)
|
rs397514395
|
0.00004
|
NM_003041.4(SLC5A2):c.1031C>T (p.Ala344Val)
|
rs766548165
|
0.00004
|
NM_003041.4(SLC5A2):c.1280+1G>A
|
rs554372141
|
0.00004
|
NM_000027.4(AGA):c.677G>A (p.Gly226Asp)
|
rs386833431
|
0.00003
|
NM_000152.5(GAA):c.307T>G (p.Cys103Gly)
|
rs398123174
|
0.00003
|
NM_000155.4(GALT):c.292G>A (p.Asp98Asn)
|
rs111033670
|
0.00003
|
NM_000525.4(KCNJ11):c.844G>A (p.Glu282Lys)
|
rs267607196
|
0.00003
|
NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter)
|
rs387906244
|
0.00003
|
NM_001008216.2(GALE):c.505C>T (p.Arg169Trp)
|
rs137853859
|
0.00003
|
NM_001041.4(SI):c.4825C>T (p.Arg1609Ter)
|
rs200328403
|
0.00003
|
NM_001370658.1(BTD):c.535G>A (p.Val179Met)
|
rs397514375
|
0.00003
|
NM_003384.3(VRK1):c.356A>G (p.His119Arg)
|
rs371295780
|
0.00003
|
NM_005609.4(PYGM):c.2352C>A (p.Cys784Ter)
|
rs1057517001
|
0.00003
|
NM_138413.4(HOGA1):c.812G>A (p.Arg271His)
|
rs750974539
|
0.00003
|
NM_138413.4(HOGA1):c.907C>T (p.Arg303Cys)
|
rs149150736
|
0.00003
|
NM_000528.4(MAN2B1):c.1026+2T>G
|
rs369099686
|
0.00002
|
NM_003041.4(SLC5A2):c.1102C>T (p.Arg368Trp)
|
rs148410166
|
0.00002
|
NM_005609.4(PYGM):c.1768+2T>G
|
rs747513238
|
0.00002
|
NM_012203.2(GRHPR):c.735-1G>A
|
rs180177317
|
0.00002
|
NM_000027.4(AGA):c.404T>C (p.Phe135Ser)
|
rs386833427
|
0.00001
|
NM_000030.3(AGXT):c.107G>A (p.Arg36His)
|
rs180177162
|
0.00001
|
NM_000030.3(AGXT):c.242C>T (p.Ser81Leu)
|
rs180177184
|
0.00001
|
NM_000030.3(AGXT):c.2T>C (p.Met1Thr)
|
rs138584408
|
0.00001
|
NM_000030.3(AGXT):c.332G>A (p.Arg111Gln)
|
rs180177203
|
0.00001
|
NM_000046.5(ARSB):c.215T>G (p.Leu72Arg)
|
rs397514441
|
0.00001
|
NM_000151.4(G6PC1):c.883C>T (p.Arg295Cys)
|
rs104894563
|
0.00001
|
NM_000152.5(GAA):c.2189+1G>T
|
rs1209887739
|
0.00001
|
NM_000152.5(GAA):c.2647-7G>A
|
rs192679574
|
0.00001
|
NM_000152.5(GAA):c.743T>C (p.Leu248Pro)
|
rs1443844938
|
0.00001
|
NM_000152.5(GAA):c.871C>T (p.Leu291Phe)
|
rs773417785
|
0.00001
|
NM_000181.4(GUSB):c.1144C>T (p.Arg382Cys)
|
rs121918173
|
0.00001
|
NM_000181.4(GUSB):c.646C>T (p.Arg216Trp)
|
rs121918174
|
0.00001
|
NM_000199.5(SGSH):c.1138C>T (p.Gln380Ter)
|
rs1424242431
|
0.00001
|
NM_000199.5(SGSH):c.1166A>G (p.Asn389Ser)
|
rs1555620214
|
0.00001
|
NM_000199.5(SGSH):c.544C>T (p.Arg182Cys)
|
rs529855742
|
0.00001
|
NM_000199.5(SGSH):c.571G>A (p.Gly191Arg)
|
rs753666460
|
0.00001
|
NM_000199.5(SGSH):c.812C>T (p.Thr271Met)
|
rs746776254
|
0.00001
|
NM_000203.5(IDUA):c.1190-2A>T
|
rs994902207
|
0.00001
|
NM_000203.5(IDUA):c.265C>T (p.Arg89Trp)
|
rs754966840
|
0.00001
|
NM_000207.3(INS):c.1A>G (p.Met1Val)
|
rs757124361
|
0.00001
|
NM_000208.4(INSR):c.3059G>A (p.Arg1020Gln)
|
rs121913148
|
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.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_000402.4(G6PD):c.233T>C (p.Ile78Thr)
|
rs76645461
|
0.00001
|
NM_000404.4(GLB1):c.443G>A (p.Arg148His)
|
rs745864233
|
0.00001
|
NM_000512.5(GALNS):c.280C>T (p.Arg94Cys)
|
rs118204441
|
0.00001
|
NM_000512.5(GALNS):c.466T>C (p.Phe156Leu)
|
rs1308500116
|
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.881C>T (p.Thr294Met)
|
rs780957825
|
0.00001
|
NM_000528.4(MAN2B1):c.1528-1G>A
|
rs561991886
|
0.00001
|
NM_000528.4(MAN2B1):c.2920dup (p.Thr974fs)
|
rs774791244
|
0.00001
|
NM_000545.8(HNF1A):c.1556C>T (p.Pro519Leu)
|
rs749673816
|
0.00001
|
NM_000642.3(AGL):c.1078C>T (p.His360Tyr)
|
rs763554006
|
0.00001
|
NM_000642.3(AGL):c.22C>T (p.Arg8Ter)
|
rs1057516870
|
0.00001
|
NM_000642.3(AGL):c.2309-2A>G
|
rs1253347170
|
0.00001
|
NM_000642.3(AGL):c.3259+1G>A
|
rs1394576194
|
0.00001
|
NM_000642.3(AGL):c.907C>T (p.Gln303Ter)
|
rs145362161
|
0.00001
|
NM_001008216.2(GALE):c.280G>A (p.Val94Met)
|
rs121908047
|
0.00001
|
NM_001008216.2(GALE):c.796-1G>T
|
rs779828095
|
0.00001
|
NM_001040716.2(PC):c.633+2T>C
|
rs763433647
|
0.00001
|
NM_001164277.2(SLC37A4):c.448G>A (p.Gly150Arg)
|
rs193302883
|
0.00001
|
NM_001370658.1(BTD):c.-17+2T>C
|
rs745648160
|
0.00001
|
NM_004130.4(GYG1):c.970C>T (p.Arg324Ter)
|
rs727502869
|
0.00001
|
NM_005908.4(MANBA):c.960+1G>A
|
rs890870104
|
0.00001
|
NM_012203.2(GRHPR):c.404+5G>A
|
rs757796926
|
0.00001
|
NM_012203.2(GRHPR):c.735-2del
|
rs1257080057
|
0.00001
|
NM_012203.2(GRHPR):c.865+1G>T
|
rs771990662
|
0.00001
|
NM_012203.2(GRHPR):c.904C>T (p.Arg302Cys)
|
rs180177322
|
0.00001
|
NM_138413.4(HOGA1):c.700+2T>G
|
rs990830655
|
0.00001
|
NM_152419.3(HGSNAT):c.1464+1G>A
|
rs398124545
|
0.00001
|
NM_152419.3(HGSNAT):c.848C>T (p.Pro283Leu)
|
rs121908282
|
0.00001
|
NM_175914.5(HNF4A):c.322G>A (p.Val108Ile)
|
rs377476335
|
0.00001
|
GRCh37/hg19 3q26.1(chr3:164696665-164751252)
|
|
|
GRCh37/hg19 3q26.1(chr3:164714302-164716481)
|
|
|
NM_000027.4(AGA):c.281+1G>T
|
rs1553994812
|
|
NM_000027.4(AGA):c.302C>T (p.Ala101Val)
|
rs121964908
|
|
NM_000030.3(AGXT):c.1049G>A (p.Gly350Asp)
|
rs180177156
|
|
NM_000030.3(AGXT):c.1076T>C (p.Leu359Pro)
|
rs180177160
|
|
NM_000030.3(AGXT):c.126del (p.Leu43fs)
|
rs180177171
|
|
NM_000030.3(AGXT):c.302T>C (p.Leu101Pro)
|
rs180177195
|
|
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg)
|
rs34116584
|
|
NM_000030.3(AGXT):c.547G>A (p.Asp183Asn)
|
rs180177236
|
|
NM_000030.3(AGXT):c.646G>A (p.Gly216Arg)
|
rs180177252
|
|
NM_000030.3(AGXT):c.662_664del (p.Ser221del)
|
rs796052071
|
|
NM_000030.3(AGXT):c.673_676del (p.Lys225fs)
|
rs1057516896
|
|
NM_000035.4(ALDOB):c.324G>A (p.Lys108=)
|
rs750026492
|
|
NM_000035.4(ALDOB):c.673del (p.Glu225fs)
|
rs758133069
|
|
NM_000151.4(G6PC1):c.1012G>T (p.Val338Phe)
|
rs367727229
|
|
NM_000151.4(G6PC1):c.506C>G (p.Ser169Ter)
|
rs2056081719
|
|
NM_000151.4(G6PC1):c.562G>A (p.Gly188Ser)
|
rs80356482
|
|
NM_000151.4(G6PC1):c.980_982del (p.Phe327del)
|
rs80356486
|
|
NM_000152.5(GAA):c.1062C>A (p.Tyr354Ter)
|
rs1064796703
|
|
NM_000152.5(GAA):c.1124G>T (p.Arg375Leu)
|
rs142752477
|
|
NM_000152.5(GAA):c.1143del (p.Ala382fs)
|
rs757458607
|
|
NM_000152.5(GAA):c.1445C>G (p.Pro482Arg)
|
rs2039212985
|
|
NM_000152.5(GAA):c.1465G>A (p.Asp489Asn)
|
rs398123169
|
|
NM_000152.5(GAA):c.1551+1G>C
|
rs770780848
|
|
NM_000152.5(GAA):c.1650dup (p.Thr551fs)
|
rs766398206
|
|
NM_000152.5(GAA):c.2210C>A (p.Thr737Asn)
|
rs1381005435
|
|
NM_000152.5(GAA):c.276C>A (p.Cys92Ter)
|
rs1232001857
|
|
NM_000152.5(GAA):c.4G>T (p.Gly2Ter)
|
rs1567825175
|
|
NM_000152.5(GAA):c.546G>C (p.Thr182=)
|
rs143523371
|
|
NM_000152.5(GAA):c.569G>A (p.Arg190His)
|
rs528367092
|
|
NM_000152.5(GAA):c.711_712dup (p.Pro238fs)
|
rs1555599586
|
|
NM_000154.2(GALK1):c.364del (p.Leu122fs)
|
rs2061596711
|
|
NM_000155.4(GALT):c.508-1G>C
|
rs398123181
|
|
NM_000155.4(GALT):c.904+1G>T
|
rs367543271
|
|
NM_000162.5(GCK):c.1340G>A (p.Arg447Gln)
|
rs1131691416
|
|
NM_000162.5(GCK):c.1358C>T (p.Ser453Leu)
|
rs193922283
|
|
NM_000162.5(GCK):c.660C>A (p.Cys220Ter)
|
rs142952813
|
|
NM_000162.5(GCK):c.871A>T (p.Lys291Ter)
|
rs193922335
|
|
NM_000188.3(HK1):c.1370C>T (p.Thr457Met)
|
rs1057517928
|
|
NM_000199.5(SGSH):c.506+1G>A
|
rs763063355
|
|
NM_000199.5(SGSH):c.733C>T (p.Arg245Cys)
|
rs1455698449
|
|
NM_000203.5(IDUA):c.1269C>A (p.Ser423Arg)
|
rs931627770
|
|
NM_000203.5(IDUA):c.398_403del (p.Met133_Gly134del)
|
rs774605197
|
|
NM_000262.3(NAGA):c.606C>A (p.Tyr202Ter)
|
rs779423223
|
|
NM_000262.3(NAGA):c.759+1_759+8del
|
rs768761898
|
|
NM_000263.4(NAGLU):c.49_73dup (p.Glu25fs)
|
rs2092905845
|
|
NM_000289.6(PFKM):c.159+1G>T
|
rs1305706304
|
|
NM_000298.6(PKLR):c.391_393del (p.Ile131del)
|
rs886045351
|
|
NM_000340.2(SLC2A2):c.156_181dup (p.Ile61fs)
|
rs1447936042
|
|
NM_000352.6(ABCC8):c.1647del (p.Ile550fs)
|
rs2133554613
|
|
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.45C>G (p.Tyr15Ter)
|
rs758231286
|
|
NM_000402.4(G6PD):c.1429G>A (p.Gly477Arg)
|
rs137852317
|
|
NM_000404.4(GLB1):c.1456_1466dup (p.Ile489fs)
|
rs398123349
|
|
NM_000434.4(NEU1):c.1021C>T (p.Arg341Ter)
|
rs751458617
|
|
NM_000458.4(HNF1B):c.1130_1131del (p.Ser377fs)
|
rs2147473703
|
|
NM_000458.4(HNF1B):c.634C>T (p.Gln212Ter)
|
rs2147553451
|
|
NM_000458.4(HNF1B):c.865A>G (p.Asn289Asp)
|
|
|
NM_000512.5(GALNS):c.230C>G (p.Pro77Arg)
|
rs1422505598
|
|
NM_000512.5(GALNS):c.319+2T>C
|
rs2143005067
|
|
NM_000512.5(GALNS):c.899-2A>C
|
rs1165218506
|
|
NM_000528.4(MAN2B1):c.763+2_763+8del
|
rs1057517108
|
|
NM_000545.8(HNF1A):c.1136C>A (p.Pro379His)
|
rs371717826
|
|
NM_000545.8(HNF1A):c.1310-2A>G
|
rs2135847311
|
|
NM_000545.8(HNF1A):c.818AAG[2] (p.Glu275del)
|
rs1288094664
|
|
NM_000642.3(AGL):c.2024_2033del (p.Arg675fs)
|
rs1652003965
|
|
NM_000642.3(AGL):c.2158-2A>G
|
rs878959417
|
|
NM_000642.3(AGL):c.223_224del (p.Glu74_Asp75insTer)
|
rs767346840
|
|
NM_000642.3(AGL):c.2670del (p.Pro891fs)
|
rs764591009
|
|
NM_000642.3(AGL):c.2799T>G (p.Tyr933Ter)
|
rs767529587
|
|
NM_000642.3(AGL):c.293+1del
|
rs777857395
|
|
NM_000642.3(AGL):c.294-2A>T
|
rs1057516868
|
|
NM_000642.3(AGL):c.4221dup (p.Leu1408fs)
|
rs786204655
|
|
NM_000642.3(AGL):c.454G>T (p.Glu152Ter)
|
rs1650125542
|
|
NM_000642.3(AGL):c.460+1G>A
|
rs930434905
|
|
NM_000642.3(AGL):c.861_864del (p.Ile288fs)
|
rs1571243699
|
|
NM_001008216.2(GALE):c.749del (p.Gly250fs)
|
rs1570630665
|
|
NM_001041.4(SI):c.2654_2657del (p.Asp885fs)
|
rs1221816681
|
|
NM_001041.4(SI):c.2737-1G>C
|
rs1294620045
|
|
NM_001041.4(SI):c.2865C>A (p.Cys955Ter)
|
rs2108202378
|
|
NM_001041.4(SI):c.635+2T>C
|
rs1185991890
|
|
NM_001136035.4(TRMT1):c.389_390del (p.Lys130fs)
|
rs868289171
|
|
NM_001164277.2(SLC37A4):c.1016G>A (p.Gly339Asp)
|
rs121908980
|
|
NM_001164277.2(SLC37A4):c.1267C>T (p.Arg423Ter)
|
rs2134626266
|
|
NM_001164277.2(SLC37A4):c.148+1G>A
|
rs1943672400
|
|
NM_001164277.2(SLC37A4):c.74_77del (p.Tyr25fs)
|
rs1447366650
|
|
NM_001164277.2(SLC37A4):c.899G>A (p.Arg300His)
|
rs193302903
|
|
NM_001370658.1(BTD):c.1181_1192del (p.Tyr394_Val397del)
|
rs397514404
|
|
NM_001370658.1(BTD):c.641C>T (p.Thr214Ile)
|
rs587783005
|
|
NM_003384.3(VRK1):c.637T>C (p.Tyr213His)
|
rs1595676477
|
|
NM_003477.3(PDHX):c.134G>A (p.Trp45Ter)
|
rs1064796807
|
|
NM_005609.4(PYGM):c.2177+1G>A
|
rs751875471
|
|
NM_005609.4(PYGM):c.395_408del (p.Leu132fs)
|
rs1565538121
|
|
NM_005670.4(EPM2A):c.759delinsCATGCA (p.Ala254fs)
|
rs1131691331
|
|
NM_005908.4(MANBA):c.549+1G>A
|
rs1334537145
|
|
NM_006516.4(SLC2A1):c.1372C>T (p.Arg458Trp)
|
rs13306758
|
|
NM_012203.2(GRHPR):c.-4_-3delinsAT
|
rs796052077
|
|
NM_012203.2(GRHPR):c.154del (p.Ala52fs)
|
rs751101495
|
|
NM_012203.2(GRHPR):c.214+2T>G
|
rs1057517398
|
|
NM_012203.2(GRHPR):c.597del (p.Phe199fs)
|
rs1057516292
|
|
NM_012434.5(SLC17A5):c.1001C>G (p.Pro334Arg)
|
rs119491110
|
|
NM_016042.4(EXOSC3):c.428_431del (p.Tyr143fs)
|
rs1296865764
|
|
NM_016042.4(EXOSC3):c.619_622dup (p.Arg208delinsAsnTer)
|
rs1160669103
|
|
NM_017755.6(NSUN2):c.1165C>T (p.Arg389Ter)
|
rs1377452635
|
|
NM_138413.4(HOGA1):c.10_11insTGGTC (p.Pro4fs)
|
rs924232072
|
|
NM_138413.4(HOGA1):c.603+1G>A
|
rs2135722313
|
|
NM_138413.4(HOGA1):c.834+2T>C
|
rs947352856
|
|
NM_175914.5(HNF4A):c.427-1G>A
|
rs1568731279
|
|
NM_175914.5(HNF4A):c.691C>T (p.Arg231Trp)
|
rs376013528
|
|
NM_175914.5(HNF4A):c.944TGC[6] (p.Leu319dup)
|
rs776489992
|
|