NM_000545.8(HNF1A):c.79A>C (p.Ile27Leu)
|
rs1169288
|
0.35489
|
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp)
|
rs1050829
|
0.08672
|
NM_000155.4(GALT):c.940A>G (p.Asn314Asp)
|
rs2070074
|
0.07150
|
NM_000402.4(G6PD):c.292G>A (p.Val98Met)
|
rs1050828
|
0.03616
|
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)
|
rs13078881
|
0.03225
|
NM_005327.7(HADH):c.662G>A (p.Arg221His)
|
rs76476980
|
0.00358
|
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp)
|
rs116100695
|
0.00270
|
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys)
|
rs121434529
|
0.00225
|
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter)
|
rs116987552
|
0.00181
|
NM_016219.5(MAN1B1):c.403G>A (p.Val135Ile)
|
rs75442795
|
0.00172
|
NM_000290.4(PGAM2):c.233G>A (p.Trp78Ter)
|
rs10250779
|
0.00166
|
NM_005609.4(PYGM):c.660G>A (p.Gln220=)
|
rs142234258
|
0.00161
|
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro)
|
rs76723693
|
0.00154
|
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_004130.4(GYG1):c.304G>C (p.Asp102His)
|
rs143137713
|
0.00109
|
NM_001041.4(SI):c.5234T>G (p.Phe1745Cys)
|
rs79717168
|
0.00108
|
NM_000155.4(GALT):c.404C>T (p.Ser135Leu)
|
rs111033690
|
0.00094
|
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe)
|
rs374550999
|
0.00093
|
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val)
|
rs141976414
|
0.00080
|
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp)
|
rs137853247
|
0.00076
|
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val)
|
rs116135678
|
0.00074
|
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg)
|
rs121908529
|
0.00067
|
NM_001360016.2(G6PD):c.582C>G (p.Asp194Glu)
|
rs145247580
|
0.00063
|
NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln)
|
rs137853242
|
0.00060
|
NM_000027.4(AGA):c.488G>C (p.Cys163Ser)
|
rs121964904
|
0.00055
|
NM_003805.5(CRADD):c.509G>A (p.Arg170His)
|
rs141179774
|
0.00053
|
NM_000262.3(NAGA):c.479C>G (p.Ser160Cys)
|
rs121434532
|
0.00052
|
NM_001370658.1(BTD):c.1308A>C (p.Gln436His)
|
rs80338685
|
0.00046
|
NM_017755.6(NSUN2):c.529C>T (p.His177Tyr)
|
rs149196615
|
0.00044
|
NM_000199.5(SGSH):c.734G>A (p.Arg245His)
|
rs104894635
|
0.00039
|
NM_000152.5(GAA):c.752C>T (p.Ser251Leu)
|
rs200856561
|
0.00038
|
NM_152419.3(HGSNAT):c.1237C>T (p.Pro413Ser)
|
rs201346206
|
0.00038
|
NM_000203.5(IDUA):c.1577T>C (p.Leu526Pro)
|
rs781136336
|
0.00035
|
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys)
|
rs1801175
|
0.00034
|
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_015275.3(WASHC4):c.1508A>G (p.His503Arg)
|
rs201428088
|
0.00032
|
NM_018297.4(NGLY1):c.1201A>T (p.Arg401Ter)
|
rs201337954
|
0.00031
|
NM_153747.2(PIGC):c.61C>T (p.Arg21Ter)
|
rs115209243
|
0.00031
|
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys)
|
rs80338671
|
0.00029
|
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)
|
rs5030868
|
0.00028
|
NM_000152.5(GAA):c.922C>T (p.His308Tyr)
|
rs112025212
|
0.00024
|
NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu)
|
rs146136265
|
0.00024
|
NM_000507.4(FBP1):c.960_961insG (p.Ser321fs)
|
rs757653154
|
0.00022
|
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys)
|
rs104894636
|
0.00021
|
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_000434.4(NEU1):c.649G>A (p.Val217Met)
|
rs28940583
|
0.00017
|
NM_000512.5(GALNS):c.850T>G (p.Phe284Val)
|
rs144067930
|
0.00017
|
NM_000402.4(G6PD):c.556G>A (p.Glu186Lys)
|
rs137852313
|
0.00016
|
NM_004130.4(GYG1):c.143+3G>C
|
rs370652040
|
0.00016
|
NM_138413.4(HOGA1):c.107C>T (p.Ala36Val)
|
rs201803986
|
0.00016
|
NM_000528.4(MAN2B1):c.65G>A (p.Trp22Ter)
|
rs766383135
|
0.00014
|
NM_000642.3(AGL):c.256C>T (p.Gln86Ter)
|
rs193186112
|
0.00014
|
NM_001041.4(SI):c.4251T>G (p.Tyr1417Ter)
|
rs142090504
|
0.00014
|
NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr)
|
rs181396238
|
0.00014
|
NM_003041.4(SLC5A2):c.885+5G>A
|
rs200228142
|
0.00014
|
NM_005908.4(MANBA):c.1499G>A (p.Arg500His)
|
rs147542645
|
0.00014
|
NM_000035.4(ALDOB):c.911G>A (p.Arg304Gln)
|
rs145078268
|
0.00013
|
NM_000293.3(PHKB):c.1127-2A>G
|
rs535749057
|
0.00012
|
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_000030.3(AGXT):c.949C>T (p.Arg317Trp)
|
rs774030578
|
0.00011
|
NM_000352.6(ABCC8):c.1562G>A (p.Arg521Gln)
|
rs368114790
|
0.00011
|
NM_000642.3(AGL):c.4459C>T (p.Arg1487Ter)
|
rs12118058
|
0.00011
|
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser)
|
rs138818907
|
0.00011
|
NM_005908.4(MANBA):c.1913G>A (p.Arg638His)
|
rs781584789
|
0.00011
|
NM_012203.2(GRHPR):c.742G>A (p.Val248Ile)
|
rs369950120
|
0.00011
|
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val)
|
rs77718928
|
0.00010
|
NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter)
|
rs118204429
|
0.00010
|
NM_000154.2(GALK1):c.766C>T (p.Arg256Trp)
|
rs376790302
|
0.00010
|
NM_000402.4(G6PD):c.961G>A (p.Val321Met)
|
rs137852327
|
0.00010
|
NM_005327.7(HADH):c.676T>C (p.Tyr226His)
|
rs146036912
|
0.00010
|
NM_000152.5(GAA):c.1979G>A (p.Arg660His)
|
rs374143224
|
0.00009
|
NM_000528.4(MAN2B1):c.2299C>T (p.Gln767Ter)
|
rs779769525
|
0.00009
|
NM_001352514.2(HLCS):c.1974dup (p.Val659fs)
|
rs767533946
|
0.00009
|
NM_001370658.1(BTD):c.1395C>G (p.His465Gln)
|
rs201604102
|
0.00009
|
NM_001370658.1(BTD):c.262A>G (p.Ile88Val)
|
rs976185636
|
0.00009
|
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln)
|
rs373190458
|
0.00009
|
NM_005609.4(PYGM):c.425-26A>G
|
rs764313717
|
0.00009
|
NM_006618.5(KDM5B):c.2474+1G>A
|
rs542983923
|
0.00009
|
NM_021957.4(GYS2):c.1436C>A (p.Pro479Gln)
|
rs121918420
|
0.00009
|
NM_021957.4(GYS2):c.495+1G>T
|
rs372079212
|
0.00009
|
NM_021957.4(GYS2):c.736C>T (p.Arg246Ter)
|
rs121918419
|
0.00009
|
NM_138413.4(HOGA1):c.860G>T (p.Gly287Val)
|
rs138207257
|
0.00009
|
NM_145262.4(GLYCTK):c.1478T>G (p.Phe493Cys)
|
rs121909448
|
0.00009
|
NM_000152.5(GAA):c.1194+3G>C
|
rs368539333
|
0.00008
|
NM_000152.5(GAA):c.1552-3C>G
|
rs375470378
|
0.00008
|
NM_000152.5(GAA):c.853C>T (p.Pro285Ser)
|
rs886042086
|
0.00008
|
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro)
|
rs199801029
|
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_000512.5(GALNS):c.337A>T (p.Ile113Phe)
|
rs118204438
|
0.00008
|
NM_005609.4(PYGM):c.1363G>A (p.Gly455Ser)
|
rs201042910
|
0.00008
|
NM_000030.3(AGXT):c.822G>C (p.Glu274Asp)
|
rs146525143
|
0.00007
|
NM_000046.5(ARSB):c.667A>G (p.Ile223Val)
|
rs367650121
|
0.00007
|
NM_000152.5(GAA):c.1048G>A (p.Val350Met)
|
rs200412003
|
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_000293.3(PHKB):c.1090G>T (p.Glu364Ter)
|
rs371296953
|
0.00007
|
NM_000343.4(SLC5A1):c.1370A>G (p.Gln457Arg)
|
rs200401846
|
0.00007
|
NM_000528.4(MAN2B1):c.2046+2T>A
|
rs748712495
|
0.00007
|
NM_005609.4(PYGM):c.1768+1G>A
|
rs771427957
|
0.00007
|
NM_012203.2(GRHPR):c.139C>T (p.Arg47Ter)
|
rs774654020
|
0.00007
|
NM_012434.5(SLC17A5):c.1138_1139del (p.Val380fs)
|
rs386833988
|
0.00007
|
NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu)
|
rs80338795
|
0.00007
|
NM_138413.4(HOGA1):c.569C>T (p.Pro190Leu)
|
rs202047589
|
0.00007
|
NM_000030.3(AGXT):c.167T>A (p.Ile56Asn)
|
rs180177180
|
0.00006
|
NM_000030.3(AGXT):c.698G>A (p.Arg233His)
|
rs121908527
|
0.00006
|
NM_000035.4(ALDOB):c.1027T>C (p.Tyr343His)
|
rs369586696
|
0.00006
|
NM_000108.5(DLD):c.1123G>A (p.Glu375Lys)
|
rs121964992
|
0.00006
|
NM_000152.5(GAA):c.1124G>A (p.Arg375His)
|
rs142752477
|
0.00006
|
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu)
|
rs147327209
|
0.00006
|
NM_000152.5(GAA):c.2456G>A (p.Arg819Gln)
|
rs374687883
|
0.00006
|
NM_000152.5(GAA):c.266G>A (p.Arg89His)
|
rs200586324
|
0.00006
|
NM_000152.5(GAA):c.655G>A (p.Gly219Arg)
|
rs370950728
|
0.00006
|
NM_000152.5(GAA):c.761C>T (p.Ser254Leu)
|
rs577915581
|
0.00006
|
NM_000152.5(GAA):c.953T>C (p.Met318Thr)
|
rs121907936
|
0.00006
|
NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter)
|
rs137852888
|
0.00006
|
NM_000158.4(GBE1):c.555+1G>T
|
rs759707498
|
0.00006
|
NM_000158.4(GBE1):c.785G>A (p.Arg262His)
|
rs369574719
|
0.00006
|
NM_000289.6(PFKM):c.237+1G>A
|
rs202143236
|
0.00006
|
NM_000404.4(GLB1):c.1256G>A (p.Arg419Gln)
|
rs780634117
|
0.00006
|
NM_000404.4(GLB1):c.1733A>G (p.Lys578Arg)
|
rs371582179
|
0.00006
|
NM_000404.4(GLB1):c.464T>G (p.Leu155Arg)
|
rs376710410
|
0.00006
|
NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys)
|
rs118204437
|
0.00006
|
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro)
|
rs80338681
|
0.00006
|
NM_000545.8(HNF1A):c.1061C>T (p.Thr354Met)
|
rs757068809
|
0.00006
|
NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter)
|
rs267606640
|
0.00006
|
NM_000642.3(AGL):c.4260-12A>G
|
rs369973784
|
0.00006
|
NM_001040716.2(PC):c.1892G>A (p.Arg631Gln)
|
rs113994145
|
0.00006
|
NM_002103.5(GYS1):c.162_163del (p.Asp56fs)
|
rs587777375
|
0.00006
|
NM_002103.5(GYS1):c.678+1G>A
|
rs755305465
|
0.00006
|
NM_002863.5(PYGL):c.1620+1G>A
|
rs113993981
|
0.00006
|
NM_005609.4(PYGM):c.2056G>A (p.Gly686Arg)
|
rs144081869
|
0.00006
|
NM_005908.4(MANBA):c.1922G>A (p.Arg641His)
|
rs569997475
|
0.00006
|
NM_012203.2(GRHPR):c.734+1G>A
|
rs148049120
|
0.00006
|
NM_012434.5(SLC17A5):c.533del (p.Thr178fs)
|
rs727504156
|
0.00006
|
NM_014026.6(DCPS):c.947C>T (p.Thr316Met)
|
rs137941190
|
0.00006
|
NM_021957.4(GYS2):c.116A>G (p.Asn39Ser)
|
rs121918423
|
0.00006
|
NM_000030.3(AGXT):c.353G>A (p.Arg118His)
|
rs138025751
|
0.00005
|
NM_000030.3(AGXT):c.697C>T (p.Arg233Cys)
|
rs121908526
|
0.00005
|
NM_000046.5(ARSB):c.1450A>G (p.Arg484Gly)
|
rs201101343
|
0.00005
|
NM_000046.5(ARSB):c.937C>G (p.Pro313Ala)
|
rs749989641
|
0.00005
|
NM_000151.4(G6PC1):c.113A>T (p.Asp38Val)
|
rs104894565
|
0.00005
|
NM_000151.4(G6PC1):c.189G>A (p.Trp63Ter)
|
rs764920787
|
0.00005
|
NM_000152.5(GAA):c.1409A>C (p.Asn470Thr)
|
rs144155165
|
0.00005
|
NM_000158.4(GBE1):c.1544G>A (p.Arg515His)
|
rs201958741
|
0.00005
|
NM_000175.5(GPI):c.671C>T (p.Thr224Met)
|
rs61754634
|
0.00005
|
NM_000199.5(SGSH):c.703G>A (p.Asp235Asn)
|
rs753472891
|
0.00005
|
NM_000292.3(PHKA2):c.4C>G (p.Arg2Gly)
|
rs140014925
|
0.00005
|
NM_000404.4(GLB1):c.602G>A (p.Arg201His)
|
rs189115557
|
0.00005
|
NM_000512.5(GALNS):c.1559G>A (p.Trp520Ter)
|
rs372893383
|
0.00005
|
NM_000925.4(PDHB):c.426A>G (p.Ile142Met)
|
rs151247980
|
0.00005
|
NM_001370658.1(BTD):c.383G>A (p.Arg128His)
|
rs367902696
|
0.00005
|
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys)
|
rs369102875
|
0.00005
|
NM_002863.5(PYGL):c.1947C>A (p.Tyr649Ter)
|
rs150547274
|
0.00005
|
NM_005609.4(PYGM):c.2178-1G>A
|
rs143670942
|
0.00005
|
NM_012434.5(SLC17A5):c.719G>A (p.Trp240Ter)
|
rs386833993
|
0.00005
|
NM_020374.4(C12orf4):c.983T>C (p.Leu328Pro)
|
rs1468772495
|
0.00005
|
NM_138413.4(HOGA1):c.811C>T (p.Arg271Cys)
|
rs367741588
|
0.00005
|
NM_000030.3(AGXT):c.568G>A (p.Gly190Arg)
|
rs180177239
|
0.00004
|
NM_000030.3(AGXT):c.613T>C (p.Ser205Pro)
|
rs121908520
|
0.00004
|
NM_000035.4(ALDOB):c.379+1G>T
|
rs138121153
|
0.00004
|
NM_000046.5(ARSB):c.455G>A (p.Arg152Gln)
|
rs776814144
|
0.00004
|
NM_000046.5(ARSB):c.971G>T (p.Gly324Val)
|
rs398123125
|
0.00004
|
NM_000108.5(DLD):c.1382G>A (p.Gly461Glu)
|
rs757275923
|
0.00004
|
NM_000151.4(G6PC1):c.328G>A (p.Glu110Lys)
|
rs104894567
|
0.00004
|
NM_000151.4(G6PC1):c.800C>T (p.Thr267Met)
|
rs145296477
|
0.00004
|
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys)
|
rs770610356
|
0.00004
|
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu)
|
rs148842275
|
0.00004
|
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter)
|
rs140826989
|
0.00004
|
NM_000152.5(GAA):c.1827del (p.Arg608_Tyr609insTer)
|
rs781088002
|
0.00004
|
NM_000152.5(GAA):c.781G>A (p.Ala261Thr)
|
rs543360994
|
0.00004
|
NM_000152.5(GAA):c.784G>A (p.Glu262Lys)
|
rs201896815
|
0.00004
|
NM_000154.2(GALK1):c.1031C>T (p.Thr344Met)
|
rs371517491
|
0.00004
|
NM_000154.2(GALK1):c.1045G>A (p.Gly349Ser)
|
rs754967473
|
0.00004
|
NM_000155.4(GALT):c.1006A>T (p.Met336Leu)
|
rs111033810
|
0.00004
|
NM_000155.4(GALT):c.512T>C (p.Phe171Ser)
|
rs111033715
|
0.00004
|
NM_000158.4(GBE1):c.1825G>A (p.Glu609Lys)
|
rs772802187
|
0.00004
|
NM_000158.4(GBE1):c.70del (p.Asp24fs)
|
rs1407149518
|
0.00004
|
NM_000158.4(GBE1):c.760A>G (p.Thr254Ala)
|
rs770427750
|
0.00004
|
NM_000175.5(GPI):c.1336C>T (p.Arg446Ter)
|
rs774419705
|
0.00004
|
NM_000181.4(GUSB):c.1617C>T (p.Ser539=)
|
rs377519272
|
0.00004
|
NM_000199.5(SGSH):c.1063G>A (p.Glu355Lys)
|
rs766938111
|
0.00004
|
NM_000199.5(SGSH):c.1129C>T (p.Arg377Cys)
|
rs772311757
|
0.00004
|
NM_000199.5(SGSH):c.1297C>T (p.Arg433Trp)
|
rs777267343
|
0.00004
|
NM_000199.5(SGSH):c.877C>T (p.Pro293Ser)
|
rs143947056
|
0.00004
|
NM_000203.5(IDUA):c.1046A>G (p.Asp349Gly)
|
rs371397270
|
0.00004
|
NM_000203.5(IDUA):c.793-1G>A
|
rs762779421
|
0.00004
|
NM_000262.3(NAGA):c.324+1G>A
|
rs140673721
|
0.00004
|
NM_000263.4(NAGLU):c.104T>C (p.Leu35Pro)
|
rs1246249632
|
0.00004
|
NM_000263.4(NAGLU):c.1558C>T (p.Arg520Trp)
|
rs992677795
|
0.00004
|
NM_000263.4(NAGLU):c.1694G>A (p.Arg565Gln)
|
rs104894598
|
0.00004
|
NM_000289.6(PFKM):c.298C>T (p.Arg100Ter)
|
rs374547385
|
0.00004
|
NM_000292.3(PHKA2):c.2971G>A (p.Gly991Arg)
|
rs750628677
|
0.00004
|
NM_000352.6(ABCC8):c.2041-21G>A
|
rs746714109
|
0.00004
|
NM_000352.6(ABCC8):c.3640C>T (p.Arg1214Trp)
|
rs139964066
|
0.00004
|
NM_000352.6(ABCC8):c.4198G>A (p.Gly1400Arg)
|
rs137852676
|
0.00004
|
NM_000352.6(ABCC8):c.62T>A (p.Val21Asp)
|
rs200670692
|
0.00004
|
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys)
|
rs137852339
|
0.00004
|
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp)
|
rs137852331
|
0.00004
|
NM_000512.5(GALNS):c.181C>T (p.Arg61Trp)
|
rs145798311
|
0.00004
|
NM_000512.5(GALNS):c.740G>A (p.Gly247Asp)
|
rs761385192
|
0.00004
|
NM_000528.4(MAN2B1):c.2249G>A (p.Arg750Gln)
|
rs373240866
|
0.00004
|
NM_001135055.2:c.769_770insCTACCTCCTTATCTTCTG
|
rs781905246
|
0.00004
|
NM_001164277.2(SLC37A4):c.1243C>T (p.Arg415Ter)
|
rs121908979
|
0.00004
|
NM_001352514.2(HLCS):c.2260dup (p.Ser754fs)
|
rs766163167
|
0.00004
|
NM_001352514.2(HLCS):c.2434C>T (p.Arg812Ter)
|
rs146448211
|
0.00004
|
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys)
|
rs397514345
|
0.00004
|
NM_001370658.1(BTD):c.873del (p.Ser291fs)
|
rs397514395
|
0.00004
|
NM_002863.5(PYGL):c.2426C>T (p.Ser809Leu)
|
rs760187622
|
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_005609.4(PYGM):c.1466C>G (p.Pro489Arg)
|
rs398124209
|
0.00004
|
NM_005609.4(PYGM):c.2312G>A (p.Arg771Gln)
|
rs150911354
|
0.00004
|
NM_005908.4(MANBA):c.1318-1G>T
|
rs374545788
|
0.00004
|
NM_024989.4(PGAP1):c.2042del (p.Leu681fs)
|
rs756609752
|
0.00004
|
NM_152419.3(HGSNAT):c.1031G>A (p.Arg344His)
|
rs766835582
|
0.00004
|
NM_000027.4(AGA):c.319C>T (p.Arg107Ter)
|
rs765070743
|
0.00003
|
NM_000027.4(AGA):c.439T>C (p.Ser147Pro)
|
rs386833428
|
0.00003
|
NM_000027.4(AGA):c.677G>A (p.Gly226Asp)
|
rs386833431
|
0.00003
|
NM_000030.3(AGXT):c.481G>T (p.Gly161Cys)
|
rs180177227
|
0.00003
|
NM_000030.3(AGXT):c.847-3C>G
|
rs180177286
|
0.00003
|
NM_000035.4(ALDOB):c.-11+1G>C
|
rs181639417
|
0.00003
|
NM_000108.5(DLD):c.1081A>G (p.Met361Val)
|
rs121964993
|
0.00003
|
NM_000152.5(GAA):c.1129G>C (p.Gly377Arg)
|
rs752002666
|
0.00003
|
NM_000152.5(GAA):c.1316T>A (p.Met439Lys)
|
rs747610090
|
0.00003
|
NM_000152.5(GAA):c.1909C>A (p.Leu637Met)
|
rs763301606
|
0.00003
|
NM_000152.5(GAA):c.1941C>G (p.Cys647Trp)
|
rs776948121
|
0.00003
|
NM_000152.5(GAA):c.2105G>A (p.Arg702His)
|
rs398123172
|
0.00003
|
NM_000152.5(GAA):c.2173C>T (p.Arg725Trp)
|
rs121907938
|
0.00003
|
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys)
|
rs144016984
|
0.00003
|
NM_000152.5(GAA):c.2455C>T (p.Arg819Trp)
|
rs61736895
|
0.00003
|
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter)
|
rs780321415
|
0.00003
|
NM_000152.5(GAA):c.2799+4A>G
|
rs778032599
|
0.00003
|
NM_000152.5(GAA):c.307T>G (p.Cys103Gly)
|
rs398123174
|
0.00003
|
NM_000152.5(GAA):c.503G>A (p.Arg168Gln)
|
rs376685205
|
0.00003
|
NM_000152.5(GAA):c.546G>A (p.Thr182=)
|
rs143523371
|
0.00003
|
NM_000154.2(GALK1):c.94G>A (p.Val32Met)
|
rs104894576
|
0.00003
|
NM_000155.4(GALT):c.1030C>A (p.Gln344Lys)
|
rs111033814
|
0.00003
|
NM_000155.4(GALT):c.200G>A (p.Arg67His)
|
rs758430398
|
0.00003
|
NM_000155.4(GALT):c.292G>A (p.Asp98Asn)
|
rs111033670
|
0.00003
|
NM_000155.4(GALT):c.413C>T (p.Thr138Met)
|
rs111033686
|
0.00003
|
NM_000155.4(GALT):c.602G>A (p.Arg201His)
|
rs111033735
|
0.00003
|
NM_000155.4(GALT):c.857A>G (p.Tyr286Cys)
|
rs367543262
|
0.00003
|
NM_000158.4(GBE1):c.1571G>A (p.Arg524Gln)
|
rs80338673
|
0.00003
|
NM_000158.4(GBE1):c.293T>G (p.Val98Gly)
|
rs775486403
|
0.00003
|
NM_000158.4(GBE1):c.708G>C (p.Gln236His)
|
rs137852892
|
0.00003
|
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys)
|
rs104894639
|
0.00003
|
NM_000199.5(SGSH):c.697C>T (p.Arg233Ter)
|
rs374621913
|
0.00003
|
NM_000203.5(IDUA):c.1487C>T (p.Pro496Leu)
|
rs772416503
|
0.00003
|
NM_000203.5(IDUA):c.793G>C (p.Gly265Arg)
|
rs369090960
|
0.00003
|
NM_000263.4(NAGLU):c.2021G>A (p.Arg674His)
|
rs104894590
|
0.00003
|
NM_000308.4(CTSA):c.601-2A>G
|
rs778159802
|
0.00003
|
NM_000352.6(ABCC8):c.2797C>T (p.Arg933Ter)
|
rs570388861
|
0.00003
|
NM_000352.6(ABCC8):c.2921-9G>A
|
rs757171524
|
0.00003
|
NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe)
|
rs137852342
|
0.00003
|
NM_000512.5(GALNS):c.107T>G (p.Leu36Arg)
|
rs755832705
|
0.00003
|
NM_000512.5(GALNS):c.178G>A (p.Asp60Asn)
|
rs118204447
|
0.00003
|
NM_000512.5(GALNS):c.269G>A (p.Arg90Gln)
|
rs754731091
|
0.00003
|
NM_000512.5(GALNS):c.871G>A (p.Ala291Thr)
|
rs118204448
|
0.00003
|
NM_000512.5(GALNS):c.884C>T (p.Ser295Phe)
|
rs149239881
|
0.00003
|
NM_000525.4(KCNJ11):c.844G>A (p.Glu282Lys)
|
rs267607196
|
0.00003
|
NM_000528.4(MAN2B1):c.1204G>A (p.Glu402Lys)
|
rs370760999
|
0.00003
|
NM_000528.4(MAN2B1):c.2664+1G>A
|
rs771953225
|
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_000642.3(AGL):c.16C>T (p.Gln6Ter)
|
rs113994126
|
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.2401G>T (p.Glu801Ter)
|
rs200972419
|
0.00003
|
NM_001041.4(SI):c.4825C>T (p.Arg1609Ter)
|
rs200328403
|
0.00003
|
NM_001160372.4(TRAPPC9):c.1414C>T (p.Arg472Ter)
|
rs267607137
|
0.00003
|
NM_001352514.2(HLCS):c.1960+5G>A
|
rs753887925
|
0.00003
|
NM_001352514.2(HLCS):c.2121+1G>A
|
rs1175936807
|
0.00003
|
NM_001370658.1(BTD):c.1471C>G (p.Gln491Glu)
|
rs397514427
|
0.00003
|
NM_001370658.1(BTD):c.1568A>T (p.Asp523Val)
|
rs1050035768
|
0.00003
|
NM_001370658.1(BTD):c.322T>G (p.Phe108Val)
|
rs397514355
|
0.00003
|
NM_001370658.1(BTD):c.535G>A (p.Val179Met)
|
rs397514375
|
0.00003
|
NM_001370658.1(BTD):c.581A>G (p.Asn194Ser)
|
rs397514377
|
0.00003
|
NM_001931.5(DLAT):c.976-1G>A
|
rs367875541
|
0.00003
|
NM_002076.4(GNS):c.1308+2T>C
|
rs750645480
|
0.00003
|
NM_002103.5(GYS1):c.119-2_120del
|
rs1422043936
|
0.00003
|
NM_002591.4(PCK1):c.724G>A (p.Gly242Arg)
|
rs373906233
|
0.00003
|
NM_002637.4(PHKA1):c.2606+1G>A
|
rs373517016
|
0.00003
|
NM_002863.5(PYGL):c.772+1G>A
|
rs776545903
|
0.00003
|
NM_003384.3(VRK1):c.356A>G (p.His119Arg)
|
rs371295780
|
0.00003
|
NM_003477.2(PDHX):c.-197delT
|
rs1158194122
|
0.00003
|
NM_005327.7(HADH):c.706C>T (p.Arg236Ter)
|
rs375717077
|
0.00003
|
NM_005609.4(PYGM):c.1190T>C (p.Leu397Pro)
|
rs1005687078
|
0.00003
|
NM_005609.4(PYGM):c.1345G>A (p.Gly449Arg)
|
rs769172044
|
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_005609.4(PYGM):c.808C>T (p.Arg270Ter)
|
rs767739769
|
0.00003
|
NM_006859.4(LIAS):c.737+1G>A
|
rs546751789
|
0.00003
|
NM_012203.2(GRHPR):c.905G>A (p.Arg302His)
|
rs180177323
|
0.00003
|
NM_014026.6(DCPS):c.454C>T (p.Arg152Ter)
|
rs904572688
|
0.00003
|
NM_015275.3(WASHC4):c.3236A>G (p.Lys1079Arg)
|
rs748436953
|
0.00003
|
NM_020374.4(C12orf4):c.1078C>T (p.Arg360Ter)
|
rs374645146
|
0.00003
|
NM_138413.4(HOGA1):c.763C>T (p.Arg255Ter)
|
rs796052086
|
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_138413.4(HOGA1):c.943_954dup (p.Glu315_Arg318dup)
|
rs777828182
|
0.00003
|
NM_138413.4(HOGA1):c.953G>A (p.Arg318His)
|
rs201347931
|
0.00003
|
NM_175914.5(HNF4A):c.1097C>G (p.Pro366Arg)
|
rs193922469
|
0.00003
|
NM_000027.4(AGA):c.503G>A (p.Trp168Ter)
|
rs386833430
|
0.00002
|
NM_000030.3(AGXT):c.106C>T (p.Arg36Cys)
|
rs180177157
|
0.00002
|
NM_000030.3(AGXT):c.245G>A (p.Gly82Glu)
|
rs121908522
|
0.00002
|
NM_000030.3(AGXT):c.346G>A (p.Gly116Arg)
|
rs180177207
|
0.00002
|
NM_000030.3(AGXT):c.560C>T (p.Ser187Phe)
|
rs180177238
|
0.00002
|
NM_000030.3(AGXT):c.653C>T (p.Ser218Leu)
|
rs180177253
|
0.00002
|
NM_000035.4(ALDOB):c.800-2A>C
|
rs199965465
|
0.00002
|
NM_000046.5(ARSB):c.1214G>A (p.Cys405Tyr)
|
rs118203941
|
0.00002
|
NM_000046.5(ARSB):c.305G>A (p.Arg102His)
|
rs759356342
|
0.00002
|
NM_000151.4(G6PC1):c.14T>G (p.Met5Arg)
|
rs1250172816
|
0.00002
|
NM_000151.4(G6PC1):c.648G>T (p.Leu216=)
|
rs80356484
|
0.00002
|
NM_000151.4(G6PC1):c.809G>T (p.Gly270Val)
|
rs80356483
|
0.00002
|
NM_000152.5(GAA):c.1076-22T>G
|
rs762260678
|
0.00002
|
NM_000152.5(GAA):c.1441T>C (p.Trp481Arg)
|
rs772883420
|
0.00002
|
NM_000152.5(GAA):c.1710C>G (p.Asn570Lys)
|
rs765362308
|
0.00002
|
NM_000152.5(GAA):c.1735G>A (p.Glu579Lys)
|
rs991082382
|
0.00002
|
NM_000152.5(GAA):c.1831G>A (p.Gly611Ser)
|
rs1278340100
|
0.00002
|
NM_000152.5(GAA):c.1912G>T (p.Gly638Trp)
|
rs757617999
|
0.00002
|
NM_000152.5(GAA):c.2015G>A (p.Arg672Gln)
|
rs778418246
|
0.00002
|
NM_000152.5(GAA):c.317G>A (p.Arg106His)
|
rs772534106
|
0.00002
|
NM_000152.5(GAA):c.460C>T (p.Arg154Cys)
|
rs539841659
|
0.00002
|
NM_000152.5(GAA):c.858G>A (p.Thr286=)
|
rs201056962
|
0.00002
|
NM_000152.5(GAA):c.971C>T (p.Pro324Leu)
|
rs750030887
|
0.00002
|
NM_000154.2(GALK1):c.863C>T (p.Thr288Met)
|
rs759284637
|
0.00002
|
NM_000155.4(GALT):c.626A>G (p.Tyr209Cys)
|
rs111033744
|
0.00002
|
NM_000155.4(GALT):c.688-2A>C
|
rs398123185
|
0.00002
|
NM_000158.4(GBE1):c.1468del (p.Leu490fs)
|
rs774465102
|
0.00002
|
NM_000158.4(GBE1):c.671T>C (p.Leu224Pro)
|
rs137852886
|
0.00002
|
NM_000181.4(GUSB):c.1069C>T (p.Arg357Ter)
|
rs121918185
|
0.00002
|
NM_000199.5(SGSH):c.1167C>A (p.Asn389Lys)
|
rs764057581
|
0.00002
|
NM_000199.5(SGSH):c.301T>C (p.Phe101Leu)
|
rs1322090067
|
0.00002
|
NM_000199.5(SGSH):c.364G>A (p.Gly122Arg)
|
rs761607612
|
0.00002
|
NM_000199.5(SGSH):c.383C>T (p.Pro128Leu)
|
rs104894642
|
0.00002
|
NM_000202.8(IDS):c.1478G>A (p.Arg493His)
|
rs782347729
|
0.00002
|
NM_000203.5(IDUA):c.1829-1G>A
|
rs745915863
|
0.00002
|
NM_000203.5(IDUA):c.713T>A (p.Leu238Gln)
|
rs148789453
|
0.00002
|
NM_000263.4(NAGLU):c.1811C>T (p.Pro604Leu)
|
rs751203469
|
0.00002
|
NM_000263.4(NAGLU):c.2020C>T (p.Arg674Cys)
|
rs763299645
|
0.00002
|
NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys)
|
rs753520553
|
0.00002
|
NM_000308.4(CTSA):c.1318T>G (p.Phe440Val)
|
rs137854540
|
0.00002
|
NM_000352.6(ABCC8):c.1501G>A (p.Glu501Lys)
|
rs372307320
|
0.00002
|
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter)
|
rs72559722
|
0.00002
|
NM_000352.6(ABCC8):c.4308-2A>G
|
rs886041391
|
0.00002
|
NM_000402.4(G6PD):c.298T>C (p.Tyr100His)
|
rs137852349
|
0.00002
|
NM_000402.4(G6PD):c.944G>A (p.Arg315His)
|
rs74575103
|
0.00002
|
NM_000404.4(GLB1):c.1321G>A (p.Asp441Asn)
|
rs780724173
|
0.00002
|
NM_000404.4(GLB1):c.1343A>T (p.Asp448Val)
|
rs757926581
|
0.00002
|
NM_000404.4(GLB1):c.175C>T (p.Arg59Cys)
|
rs756878418
|
0.00002
|
NM_000404.4(GLB1):c.451G>A (p.Asp151Asn)
|
rs375582374
|
0.00002
|
NM_000404.4(GLB1):c.557A>C (p.Glu186Ala)
|
rs779023917
|
0.00002
|
NM_000404.4(GLB1):c.716C>T (p.Thr239Met)
|
rs746766232
|
0.00002
|
NM_000404.4(GLB1):c.841C>T (p.His281Tyr)
|
rs745386663
|
0.00002
|
NM_000434.4(NEU1):c.893C>T (p.Ala298Val)
|
rs104893981
|
0.00002
|
NM_000507.4(FBP1):c.355G>A (p.Asp119Asn)
|
rs758609113
|
0.00002
|
NM_000512.5(GALNS):c.1108C>T (p.Pro370Ser)
|
rs749891007
|
0.00002
|
NM_000512.5(GALNS):c.245C>T (p.Ser82Leu)
|
rs371429653
|
0.00002
|
NM_000512.5(GALNS):c.319G>A (p.Ala107Thr)
|
rs763184657
|
0.00002
|
NM_000512.5(GALNS):c.776G>A (p.Arg259Gln)
|
rs118204442
|
0.00002
|
NM_000512.5(GALNS):c.935C>G (p.Thr312Ser)
|
rs118204446
|
0.00002
|
NM_000512.5(GALNS):c.938C>T (p.Thr313Met)
|
rs894525161
|
0.00002
|
NM_000512.5(GALNS):c.986A>C (p.His329Pro)
|
rs760892654
|
0.00002
|
NM_000528.4(MAN2B1):c.1026+2T>G
|
rs369099686
|
0.00002
|
NM_000528.4(MAN2B1):c.1929-1G>T
|
rs763100457
|
0.00002
|
NM_000528.4(MAN2B1):c.2140T>C (p.Trp714Arg)
|
rs864621993
|
0.00002
|
NM_000528.4(MAN2B1):c.2278C>T (p.Arg760Ter)
|
rs121434331
|
0.00002
|
NM_000528.4(MAN2B1):c.2867T>G (p.Leu956Arg)
|
rs768233248
|
0.00002
|
NM_000545.8(HNF1A):c.29C>T (p.Thr10Met)
|
rs774637975
|
0.00002
|
NM_000642.3(AGL):c.2039G>A (p.Trp680Ter)
|
rs113994129
|
0.00002
|
NM_000925.4(PDHB):c.956A>T (p.Asp319Val)
|
rs199983136
|
0.00002
|
NM_001008216.2(GALE):c.151C>T (p.Arg51Trp)
|
rs780517804
|
0.00002
|
NM_001008216.2(GALE):c.905G>A (p.Gly302Asp)
|
rs137853861
|
0.00002
|
NM_001164277.2(SLC37A4):c.1099G>A (p.Ala367Thr)
|
rs80356492
|
0.00002
|
NM_001164277.2(SLC37A4):c.742C>T (p.Gln248Ter)
|
rs781784543
|
0.00002
|
NM_001352514.2(HLCS):c.1529T>A (p.Val510Asp)
|
rs769499327
|
0.00002
|
NM_001352514.2(HLCS):c.1808A>G (p.Tyr603Cys)
|
rs781603756
|
0.00002
|
NM_001352514.2(HLCS):c.1985G>A (p.Ser662Asn)
|
rs773398782
|
0.00002
|
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn)
|
rs119103228
|
0.00002
|
NM_001360016.2(G6PD):c.209A>G (p.Tyr70Cys)
|
rs782090947
|
0.00002
|
NM_001360016.2(G6PD):c.406C>T (p.Arg136Cys)
|
rs979416826
|
0.00002
|
NM_001360016.2(G6PD):c.477G>C (p.Met159Ile)
|
rs370918918
|
0.00002
|
NM_001360016.2(G6PD):c.703C>T (p.Leu235Phe)
|
rs782757170
|
0.00002
|
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val)
|
rs104893686
|
0.00002
|
NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr)
|
rs104893692
|
0.00002
|
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn)
|
rs397514367
|
0.00002
|
NM_001370658.1(BTD):c.497G>A (p.Cys166Tyr)
|
rs397514369
|
0.00002
|
NM_001739.2(CA5A):c.721G>A (p.Glu241Lys)
|
rs563971993
|
0.00002
|
NM_002591.4(PCK1):c.961+1G>A
|
rs776767788
|
0.00002
|
NM_003041.4(SLC5A2):c.1102C>T (p.Arg368Trp)
|
rs148410166
|
0.00002
|
NM_003384.3(VRK1):c.216+1G>C
|
rs774518440
|
0.00002
|
NM_004130.4(GYG1):c.7+1G>A
|
rs949456055
|
0.00002
|
NM_005609.4(PYGM):c.1366G>A (p.Val456Met)
|
rs398124208
|
0.00002
|
NM_005609.4(PYGM):c.1760T>C (p.Leu587Pro)
|
rs761438921
|
0.00002
|
NM_005609.4(PYGM):c.1768+2T>G
|
rs747513238
|
0.00002
|
NM_005609.4(PYGM):c.1804C>T (p.Arg602Trp)
|
rs750195683
|
0.00002
|
NM_005609.4(PYGM):c.2083G>A (p.Gly695Arg)
|
rs768604948
|
0.00002
|
NM_005609.4(PYGM):c.252C>G (p.Tyr84Ter)
|
rs1057517145
|
0.00002
|
NM_005609.4(PYGM):c.345+2T>A
|
rs1219299972
|
0.00002
|
NM_005609.4(PYGM):c.481C>T (p.Arg161Cys)
|
rs200038732
|
0.00002
|
NM_005609.4(PYGM):c.875T>C (p.Leu292Pro)
|
rs780375860
|
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_012203.2(GRHPR):c.866-2A>G
|
rs200316691
|
0.00002
|
NM_012434.5(SLC17A5):c.291G>A (p.Thr97=)
|
rs386833990
|
0.00002
|
NM_012434.5(SLC17A5):c.507del (p.Ala169_Leu170insTer)
|
rs386833992
|
0.00002
|
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)
|
rs387907196
|
0.00002
|
NM_018255.4(ELP2):c.1385G>A (p.Arg462Gln)
|
rs371310428
|
0.00002
|
NM_018255.4(ELP2):c.178C>T (p.Arg60Ter)
|
rs553697188
|
0.00002
|
NM_018297.4(NGLY1):c.978_980del (p.Glu326_Ala327delinsAsp)
|
rs761634625
|
0.00002
|
NM_138413.4(HOGA1):c.289C>T (p.Arg97Cys)
|
rs267606762
|
0.00002
|
NM_138413.4(HOGA1):c.331G>A (p.Gly111Arg)
|
rs200529020
|
0.00002
|
NM_138413.4(HOGA1):c.385G>A (p.Gly129Arg)
|
rs778171847
|
0.00002
|
NM_152419.3(HGSNAT):c.1250+1G>A
|
rs398124544
|
0.00002
|
NM_152419.3(HGSNAT):c.1411G>A (p.Glu471Lys)
|
rs753355844
|
0.00002
|
NM_198586.3(NHLRC1):c.361G>A (p.Gly121Ser)
|
rs780082503
|
0.00002
|
NM_000027.4(AGA):c.1A>G (p.Met1Val)
|
rs1054938291
|
0.00001
|
NM_000027.4(AGA):c.301G>A (p.Ala101Thr)
|
rs752914246
|
0.00001
|
NM_000027.4(AGA):c.395-8A>G
|
rs386833426
|
0.00001
|
NM_000027.4(AGA):c.404T>C (p.Phe135Ser)
|
rs386833427
|
0.00001
|
NM_000027.4(AGA):c.473G>A (p.Trp158Ter)
|
rs745976989
|
0.00001
|
NM_000027.4(AGA):c.508-2A>G
|
rs986682657
|
0.00001
|
NM_000027.4(AGA):c.770C>T (p.Thr257Ile)
|
rs386833434
|
0.00001
|
NM_000027.4(AGA):c.800dup (p.Pro268fs)
|
rs386833436
|
0.00001
|
NM_000027.4(AGA):c.86del (p.Leu29fs)
|
rs764598121
|
0.00001
|
NM_000027.4(AGA):c.940+1G>T
|
rs386833437
|
0.00001
|
NM_000030.3(AGXT):c.1079G>A (p.Arg360Gln)
|
rs180177161
|
0.00001
|
NM_000030.3(AGXT):c.107G>A (p.Arg36His)
|
rs180177162
|
0.00001
|
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_000030.3(AGXT):c.122G>T (p.Gly41Val)
|
rs180177168
|
0.00001
|
NM_000030.3(AGXT):c.215A>T (p.Asn72Ile)
|
rs113879010
|
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_000030.3(AGXT):c.601G>A (p.Asp201Asn)
|
rs886055840
|
0.00001
|
NM_000030.3(AGXT):c.752G>A (p.Trp251Ter)
|
rs786204545
|
0.00001
|
NM_000030.3(AGXT):c.777-1G>C
|
rs180177267
|
0.00001
|
NM_000030.3(AGXT):c.907C>T (p.Gln303Ter)
|
rs180177294
|
0.00001
|
NM_000030.3(AGXT):c.976del (p.Val326fs)
|
rs180177301
|
0.00001
|
NM_000035.4(ALDOB):c.*516T>A
|
rs1402343211
|
0.00001
|
NM_000035.4(ALDOB):c.1095G>C (p.Ter365Tyr)
|
rs900220679
|
0.00001
|
NM_000035.4(ALDOB):c.136A>T (p.Arg46Trp)
|
rs41281039
|
0.00001
|
NM_000035.4(ALDOB):c.2T>C (p.Met1Thr)
|
rs1270747182
|
0.00001
|
NM_000035.4(ALDOB):c.612T>A (p.Tyr204Ter)
|
rs370793608
|
0.00001
|
NM_000046.5(ARSB):c.1336+1G>A
|
rs376233975
|
0.00001
|
NM_000046.5(ARSB):c.1340G>C (p.Cys447Ser)
|
rs1465993279
|
0.00001
|
NM_000046.5(ARSB):c.1350G>C (p.Trp450Cys)
|
rs555785323
|
0.00001
|
NM_000046.5(ARSB):c.215T>G (p.Leu72Arg)
|
rs397514441
|
0.00001
|
NM_000046.5(ARSB):c.245del (p.Leu82fs)
|
rs750845916
|
0.00001
|
NM_000046.5(ARSB):c.247G>T (p.Asp83Tyr)
|
rs1247117898
|
0.00001
|
NM_000046.5(ARSB):c.275C>T (p.Thr92Met)
|
rs751010538
|
0.00001
|
NM_000046.5(ARSB):c.284G>A (p.Arg95Gln)
|
rs118203942
|
0.00001
|
NM_000046.5(ARSB):c.328C>T (p.Gln110Ter)
|
rs1554088099
|
0.00001
|
NM_000046.5(ARSB):c.349T>C (p.Cys117Arg)
|
rs118203939
|
0.00001
|
NM_000046.5(ARSB):c.430G>A (p.Gly144Arg)
|
rs746206847
|
0.00001
|
NM_000046.5(ARSB):c.499G>A (p.Gly167Arg)
|
rs1554087999
|
0.00001
|
NM_000046.5(ARSB):c.628T>C (p.Tyr210His)
|
rs769313336
|
0.00001
|
NM_000046.5(ARSB):c.691-1G>A
|
rs778868348
|
0.00001
|
NM_000046.5(ARSB):c.900T>A (p.Asp300Glu)
|
rs1280123243
|
0.00001
|
NM_000046.5(ARSB):c.934T>C (p.Trp312Arg)
|
rs398123124
|
0.00001
|
NM_000046.5(ARSB):c.944G>A (p.Arg315Gln)
|
rs727503809
|
0.00001
|
NM_000108.5(DLD):c.1463C>T (p.Pro488Leu)
|
rs121964988
|
0.00001
|
NM_000108.5(DLD):c.684+1G>T
|
rs780025714
|
0.00001
|
NM_000108.5(DLD):c.803_804del (p.Gln268fs)
|
rs764611160
|
0.00001
|
NM_000108.5(DLD):c.875+1G>A
|
rs1328820332
|
0.00001
|
NM_000147.5(FUCA1):c.1229T>G (p.Leu410Arg)
|
rs80358199
|
0.00001
|
NM_000151.4(G6PC1):c.161A>C (p.Gln54Pro)
|
rs1057517008
|
0.00001
|
NM_000151.4(G6PC1):c.231-1G>A
|
rs1555559279
|
0.00001
|
NM_000151.4(G6PC1):c.355C>T (p.His119Tyr)
|
rs1332616844
|
0.00001
|
NM_000151.4(G6PC1):c.356A>G (p.His119Arg)
|
rs1401928680
|
0.00001
|
NM_000151.4(G6PC1):c.370G>A (p.Ala124Thr)
|
rs104894568
|
0.00001
|
NM_000151.4(G6PC1):c.447-1G>A
|
rs1411037881
|
0.00001
|
NM_000151.4(G6PC1):c.532C>T (p.Pro178Ser)
|
rs763543607
|
0.00001
|
NM_000151.4(G6PC1):c.665G>C (p.Gly222Ala)
|
rs515726229
|
0.00001
|
NM_000151.4(G6PC1):c.724C>T (p.Gln242Ter)
|
rs80356485
|
0.00001
|
NM_000151.4(G6PC1):c.757del (p.Ile253fs)
|
rs2056092619
|
0.00001
|
NM_000151.4(G6PC1):c.798del (p.Thr267fs)
|
rs749323139
|
0.00001
|
NM_000151.4(G6PC1):c.808G>C (p.Gly270Arg)
|
rs1272803483
|
0.00001
|
NM_000151.4(G6PC1):c.883C>T (p.Arg295Cys)
|
rs104894563
|
0.00001
|
NM_000151.4(G6PC1):c.884G>A (p.Arg295His)
|
rs375212414
|
0.00001
|
NM_000152.5(GAA):c.1082C>T (p.Pro361Leu)
|
rs755253527
|
0.00001
|
NM_000152.5(GAA):c.1222A>G (p.Met408Val)
|
rs560575383
|
0.00001
|
NM_000152.5(GAA):c.1292_1295dup (p.Gln433fs)
|
rs996798292
|
0.00001
|
NM_000152.5(GAA):c.1327-2A>G
|
rs1410829147
|
0.00001
|
NM_000152.5(GAA):c.1402A>T (p.Ile468Phe)
|
rs886043148
|
0.00001
|
NM_000152.5(GAA):c.1411_1414del (p.Glu471fs)
|
rs770276275
|
0.00001
|
NM_000152.5(GAA):c.1441del (p.Trp481fs)
|
rs1403500889
|
0.00001
|
NM_000152.5(GAA):c.1447G>A (p.Gly483Arg)
|
rs770590394
|
0.00001
|
NM_000152.5(GAA):c.1537G>A (p.Asp513Asn)
|
rs748047271
|
0.00001
|
NM_000152.5(GAA):c.1551+1G>T
|
rs770780848
|
0.00001
|
NM_000152.5(GAA):c.1556T>C (p.Met519Thr)
|
rs786204720
|
0.00001
|
NM_000152.5(GAA):c.1561G>A (p.Glu521Lys)
|
rs121907937
|
0.00001
|
NM_000152.5(GAA):c.1564C>T (p.Pro522Ser)
|
rs892129065
|
0.00001
|
NM_000152.5(GAA):c.1585T>G (p.Ser529Ala)
|
rs1598582021
|
0.00001
|
NM_000152.5(GAA):c.1594G>A (p.Gly532Ser)
|
rs773576381
|
0.00001
|
NM_000152.5(GAA):c.1626C>G (p.Pro542=)
|
rs947585663
|
0.00001
|
NM_000152.5(GAA):c.172C>T (p.Gln58Ter)
|
rs201185475
|
0.00001
|
NM_000152.5(GAA):c.1754G>A (p.Arg585Lys)
|
rs747373179
|
0.00001
|
NM_000152.5(GAA):c.1796C>A (p.Ser599Tyr)
|
rs753505203
|
0.00001
|
NM_000152.5(GAA):c.1799G>A (p.Arg600His)
|
rs377544304
|
0.00001
|
NM_000152.5(GAA):c.1802C>T (p.Ser601Leu)
|
rs374470794
|
0.00001
|
NM_000152.5(GAA):c.1820G>A (p.Gly607Asp)
|
rs1393386120
|
0.00001
|
NM_000152.5(GAA):c.1826dup (p.Tyr609Ter)
|
rs786204727
|
0.00001
|
NM_000152.5(GAA):c.1843G>A (p.Gly615Arg)
|
rs549029029
|
0.00001
|
NM_000152.5(GAA):c.1856G>A (p.Ser619Asn)
|
rs753269119
|
0.00001
|
NM_000152.5(GAA):c.1942G>A (p.Gly648Ser)
|
rs536906561
|
0.00001
|
NM_000152.5(GAA):c.1943G>A (p.Gly648Asp)
|
rs1448515860
|
0.00001
|
NM_000152.5(GAA):c.1958C>A (p.Thr653Asn)
|
rs763456921
|
0.00001
|
NM_000152.5(GAA):c.1962_1964del (p.Glu656del)
|
rs1030961946
|
0.00001
|
NM_000152.5(GAA):c.2014C>T (p.Arg672Trp)
|
rs757111744
|
0.00001
|
NM_000152.5(GAA):c.2040+1G>T
|
rs1057516928
|
0.00001
|
NM_000152.5(GAA):c.2104C>T (p.Arg702Cys)
|
rs786204645
|
0.00001
|
NM_000152.5(GAA):c.2174G>A (p.Arg725Gln)
|
rs577042191
|
0.00001
|
NM_000152.5(GAA):c.2189+1G>T
|
rs1209887739
|
0.00001
|
NM_000152.5(GAA):c.2236T>G (p.Trp746Gly)
|
rs1479740763
|
0.00001
|
NM_000152.5(GAA):c.2296T>A (p.Tyr766Asn)
|
rs941181575
|
0.00001
|
NM_000152.5(GAA):c.2482-2A>G
|
rs756671283
|
0.00001
|
NM_000152.5(GAA):c.2647-7G>A
|
rs192679574
|
0.00001
|
NM_000152.5(GAA):c.265C>T (p.Arg89Cys)
|
rs534192892
|
0.00001
|
NM_000152.5(GAA):c.2706del (p.Lys903fs)
|
rs1428358278
|
0.00001
|
NM_000152.5(GAA):c.2783A>G (p.Tyr928Cys)
|
rs1403885484
|
0.00001
|
NM_000152.5(GAA):c.281_282del (p.Pro94fs)
|
rs1057516503
|
0.00001
|
NM_000152.5(GAA):c.2846T>A (p.Val949Asp)
|
rs1245412108
|
0.00001
|
NM_000152.5(GAA):c.316C>T (p.Arg106Cys)
|
rs915675670
|
0.00001
|
NM_000152.5(GAA):c.365del (p.Met122fs)
|
rs786204661
|
0.00001
|
NM_000152.5(GAA):c.670C>T (p.Arg224Trp)
|
rs757700700
|
0.00001
|
NM_000152.5(GAA):c.671G>A (p.Arg224Gln)
|
rs200210219
|
0.00001
|
NM_000152.5(GAA):c.692+5G>T
|
rs763027848
|
0.00001
|
NM_000152.5(GAA):c.743T>C (p.Leu248Pro)
|
rs1443844938
|
0.00001
|
NM_000152.5(GAA):c.842G>A (p.Arg281Gln)
|
rs772607616
|
0.00001
|
NM_000152.5(GAA):c.871C>T (p.Leu291Phe)
|
rs773417785
|
0.00001
|
NM_000152.5(GAA):c.875A>G (p.Tyr292Cys)
|
rs1057516600
|
0.00001
|
NM_000152.5(GAA):c.952A>T (p.Met318Leu)
|
rs886044506
|
0.00001
|
NM_000154.2(GALK1):c.166-1G>C
|
rs142772020
|
0.00001
|
NM_000154.2(GALK1):c.520G>A (p.Glu174Lys)
|
rs1363497653
|
0.00001
|
NM_000154.2(GALK1):c.841G>A (p.Val281Met)
|
rs753571180
|
0.00001
|
NM_000154.2(GALK1):c.919_921del (p.Met307del)
|
rs1247635972
|
0.00001
|
NM_000155.4(GALT):c.1014C>G (p.Gly338=)
|
rs111033811
|
0.00001
|
NM_000155.4(GALT):c.1018G>A (p.Glu340Lys)
|
rs111033806
|
0.00001
|
NM_000155.4(GALT):c.1138T>C (p.Ter380Arg)
|
rs111033824
|
0.00001
|
NM_000155.4(GALT):c.142C>T (p.Arg48Cys)
|
rs886042088
|
0.00001
|
NM_000155.4(GALT):c.199C>T (p.Arg67Cys)
|
rs111033658
|
0.00001
|
NM_000155.4(GALT):c.241G>C (p.Ala81Pro)
|
rs111033665
|
0.00001
|
NM_000155.4(GALT):c.307C>T (p.Gln103Ter)
|
rs1225091358
|
0.00001
|
NM_000155.4(GALT):c.379A>G (p.Lys127Glu)
|
rs111033682
|
0.00001
|
NM_000155.4(GALT):c.443G>A (p.Arg148Gln)
|
rs111033694
|
0.00001
|
NM_000155.4(GALT):c.590A>G (p.Asp197Gly)
|
rs1554709359
|
0.00001
|
NM_000155.4(GALT):c.601C>T (p.Arg201Cys)
|
rs111033739
|
0.00001
|
NM_000155.4(GALT):c.610C>T (p.Arg204Ter)
|
rs111033737
|
0.00001
|
NM_000155.4(GALT):c.691C>T (p.Arg231Cys)
|
rs111033749
|
0.00001
|
NM_000155.4(GALT):c.692G>A (p.Arg231His)
|
rs111033754
|
0.00001
|
NM_000155.4(GALT):c.752A>C (p.Tyr251Ser)
|
rs111033755
|
0.00001
|
NM_000155.4(GALT):c.772C>T (p.Arg258Cys)
|
rs368166217
|
0.00001
|
NM_000155.4(GALT):c.775C>T (p.Arg259Trp)
|
rs786204763
|
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.883C>A (p.Pro295Thr)
|
rs111033783
|
0.00001
|
NM_000155.4(GALT):c.938G>A (p.Trp313Ter)
|
rs1410159094
|
0.00001
|
NM_000155.4(GALT):c.947G>A (p.Trp316Ter)
|
rs111033790
|
0.00001
|
NM_000155.4(GALT):c.958G>A (p.Ala320Thr)
|
rs111033795
|
0.00001
|
NM_000155.4(GALT):c.961C>T (p.His321Tyr)
|
rs367543266
|
0.00001
|
NM_000155.4(GALT):c.974C>T (p.Pro325Leu)
|
rs111033794
|
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_000155.4(GALT):c.998G>A (p.Arg333Gln)
|
rs111033808
|
0.00001
|
NM_000158.4(GBE1):c.1063C>T (p.Arg355Cys)
|
rs780431086
|
0.00001
|
NM_000158.4(GBE1):c.1064G>A (p.Arg355His)
|
rs869312919
|
0.00001
|
NM_000158.4(GBE1):c.1239del (p.Asp413fs)
|
rs758504480
|
0.00001
|
NM_000158.4(GBE1):c.1300C>T (p.Arg434Ter)
|
rs781198373
|
0.00001
|
NM_000158.4(GBE1):c.1621A>G (p.Asn541Asp)
|
rs1703086906
|
0.00001
|
NM_000158.4(GBE1):c.1655C>T (p.Pro552Leu)
|
rs777589783
|
0.00001
|
NM_000158.4(GBE1):c.1693C>T (p.Arg565Trp)
|
rs552094593
|
0.00001
|
NM_000158.4(GBE1):c.1803+2T>C
|
rs539203557
|
0.00001
|
NM_000158.4(GBE1):c.1823_1824del (p.His608fs)
|
rs1175447973
|
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_000158.4(GBE1):c.563A>C (p.His188Pro)
|
rs773558446
|
0.00001
|
NM_000158.4(GBE1):c.721A>G (p.Met241Val)
|
rs747155575
|
0.00001
|
NM_000158.4(GBE1):c.771T>A (p.Phe257Leu)
|
rs137852887
|
0.00001
|
NM_000158.4(GBE1):c.784C>T (p.Arg262Cys)
|
rs137852893
|
0.00001
|
NM_000158.4(GBE1):c.895G>T (p.Gly299Ter)
|
rs779475367
|
0.00001
|
NM_000158.4(GBE1):c.993-1G>T
|
rs763016962
|
0.00001
|
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.1648A>G (p.Lys550Glu)
|
rs933668811
|
0.00001
|
NM_000181.4(GUSB):c.1084G>A (p.Asp362Asn)
|
rs398123234
|
0.00001
|
NM_000181.4(GUSB):c.1144C>T (p.Arg382Cys)
|
rs121918173
|
0.00001
|
NM_000181.4(GUSB):c.1145G>A (p.Arg382His)
|
rs764018631
|
0.00001
|
NM_000181.4(GUSB):c.1881G>T (p.Trp627Cys)
|
rs121918184
|
0.00001
|
NM_000181.4(GUSB):c.646C>T (p.Arg216Trp)
|
rs121918174
|
0.00001
|
NM_000181.4(GUSB):c.893C>T (p.Ala298Val)
|
rs1451709678
|
0.00001
|
NM_000199.5(SGSH):c.1105G>A (p.Glu369Lys)
|
rs104894640
|
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.1225C>T (p.Gln409Ter)
|
rs1323958195
|
0.00001
|
NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln)
|
rs104894641
|
0.00001
|
NM_000199.5(SGSH):c.130G>A (p.Ala44Thr)
|
rs1057521146
|
0.00001
|
NM_000199.5(SGSH):c.1429G>A (p.Asp477Asn)
|
rs1064795109
|
0.00001
|
NM_000199.5(SGSH):c.1429del (p.Asp477fs)
|
rs781572815
|
0.00001
|
NM_000199.5(SGSH):c.1A>G (p.Met1Val)
|
rs1250300189
|
0.00001
|
NM_000199.5(SGSH):c.268G>A (p.Gly90Arg)
|
rs774010006
|
0.00001
|
NM_000199.5(SGSH):c.2T>C (p.Met1Thr)
|
rs1488660868
|
0.00001
|
NM_000199.5(SGSH):c.416C>T (p.Thr139Met)
|
rs775112689
|
0.00001
|
NM_000199.5(SGSH):c.448C>T (p.Arg150Trp)
|
rs1479831530
|
0.00001
|
NM_000199.5(SGSH):c.449G>A (p.Arg150Gln)
|
rs104894638
|
0.00001
|
NM_000199.5(SGSH):c.544C>T (p.Arg182Cys)
|
rs529855742
|
0.00001
|
NM_000199.5(SGSH):c.545G>A (p.Arg182His)
|
rs372911015
|
0.00001
|
NM_000199.5(SGSH):c.548G>A (p.Cys183Tyr)
|
rs1329133410
|
0.00001
|
NM_000199.5(SGSH):c.571G>A (p.Gly191Arg)
|
rs753666460
|
0.00001
|
NM_000199.5(SGSH):c.629G>A (p.Trp210Ter)
|
rs886041370
|
0.00001
|
NM_000199.5(SGSH):c.812C>T (p.Thr271Met)
|
rs746776254
|
0.00001
|
NM_000199.5(SGSH):c.817G>A (p.Asp273Asn)
|
rs1046551417
|
0.00001
|
NM_000199.5(SGSH):c.911G>T (p.Arg304Leu)
|
rs745884647
|
0.00001
|
NM_000199.5(SGSH):c.975G>T (p.Trp325Cys)
|
rs201413321
|
0.00001
|
NM_000199.5(SGSH):c.97G>A (p.Gly33Arg)
|
rs398123246
|
0.00001
|
NM_000202.8(IDS):c.1477C>T (p.Arg493Cys)
|
rs782190885
|
0.00001
|
NM_000203.5(IDUA):c.1045G>A (p.Asp349Asn)
|
rs368454909
|
0.00001
|
NM_000203.5(IDUA):c.1087C>T (p.Arg363Cys)
|
rs750496798
|
0.00001
|
NM_000203.5(IDUA):c.1148G>A (p.Arg383His)
|
rs754949360
|
0.00001
|
NM_000203.5(IDUA):c.1163C>A (p.Thr388Lys)
|
rs794727896
|
0.00001
|
NM_000203.5(IDUA):c.1163C>G (p.Thr388Arg)
|
rs794727896
|
0.00001
|
NM_000203.5(IDUA):c.1190-2A>T
|
rs994902207
|
0.00001
|
NM_000203.5(IDUA):c.1422_1423dup (p.Tyr475fs)
|
rs761793564
|
0.00001
|
NM_000203.5(IDUA):c.1487C>G (p.Pro496Arg)
|
rs772416503
|
0.00001
|
NM_000203.5(IDUA):c.1524+1G>A
|
rs1553917483
|
0.00001
|
NM_000203.5(IDUA):c.1728-1G>C
|
rs1249951282
|
0.00001
|
NM_000203.5(IDUA):c.1828+1G>C
|
rs919151683
|
0.00001
|
NM_000203.5(IDUA):c.1883G>C (p.Arg628Pro)
|
rs200448421
|
0.00001
|
NM_000203.5(IDUA):c.191_192del (p.Tyr64fs)
|
rs794727240
|
0.00001
|
NM_000203.5(IDUA):c.227A>G (p.Tyr76Cys)
|
rs780165694
|
0.00001
|
NM_000203.5(IDUA):c.265C>T (p.Arg89Trp)
|
rs754966840
|
0.00001
|
NM_000203.5(IDUA):c.299+1G>T
|
rs398123259
|
0.00001
|
NM_000203.5(IDUA):c.535A>G (p.Thr179Ala)
|
rs766030255
|
0.00001
|
NM_000203.5(IDUA):c.539G>C (p.Trp180Ser)
|
rs1044231895
|
0.00001
|
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro)
|
rs794726878
|
0.00001
|
NM_000203.5(IDUA):c.589+1G>A
|
rs1293215555
|
0.00001
|
NM_000203.5(IDUA):c.623G>A (p.Gly208Asp)
|
rs1430681871
|
0.00001
|
NM_000203.5(IDUA):c.719A>G (p.His240Arg)
|
rs1297784711
|
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_000209.4(PDX1):c.651del (p.Gly218fs)
|
rs776610329
|
0.00001
|
NM_000209.4(PDX1):c.773A>G (p.Glu258Gly)
|
rs193922360
|
0.00001
|
NM_000262.3(NAGA):c.443G>A (p.Trp148Ter)
|
rs781137026
|
0.00001
|
NM_000263.4(NAGLU):c.1021+1G>T
|
rs1447465424
|
0.00001
|
NM_000263.4(NAGLU):c.1200del (p.Gln400fs)
|
rs1485628563
|
0.00001
|
NM_000263.4(NAGLU):c.1208T>C (p.Ile403Thr)
|
rs796052122
|
0.00001
|
NM_000263.4(NAGLU):c.1241A>G (p.His414Arg)
|
rs768814260
|
0.00001
|
NM_000263.4(NAGLU):c.1390C>T (p.Arg464Ter)
|
rs138387856
|
0.00001
|
NM_000263.4(NAGLU):c.1444C>T (p.Arg482Trp)
|
rs104894596
|
0.00001
|
NM_000263.4(NAGLU):c.1447dup (p.Tyr483fs)
|
rs778021009
|
0.00001
|
NM_000263.4(NAGLU):c.154G>A (p.Val52Met)
|
rs794726880
|
0.00001
|
NM_000263.4(NAGLU):c.1597C>T (p.Arg533Ter)
|
rs1244655820
|
0.00001
|
NM_000263.4(NAGLU):c.1946G>A (p.Trp649Ter)
|
rs527236038
|
0.00001
|
NM_000263.4(NAGLU):c.1949G>A (p.Gly650Glu)
|
rs527236037
|
0.00001
|
NM_000263.4(NAGLU):c.1991C>T (p.Ala664Val)
|
rs746006696
|
0.00001
|
NM_000263.4(NAGLU):c.2116C>T (p.Gln706Ter)
|
rs752527478
|
0.00001
|
NM_000263.4(NAGLU):c.274T>C (p.Tyr92His)
|
rs1555621454
|
0.00001
|
NM_000263.4(NAGLU):c.383+1G>T
|
rs727504028
|
0.00001
|
NM_000263.4(NAGLU):c.384-1G>A
|
rs764134891
|
0.00001
|
NM_000263.4(NAGLU):c.418T>A (p.Tyr140Asn)
|
rs2092909557
|
0.00001
|
NM_000263.4(NAGLU):c.556C>T (p.Gln186Ter)
|
rs1270564492
|
0.00001
|
NM_000263.4(NAGLU):c.694C>T (p.Gln232Ter)
|
rs886043792
|
0.00001
|
NM_000263.4(NAGLU):c.701G>A (p.Arg234His)
|
rs886042073
|
0.00001
|
NM_000263.4(NAGLU):c.874G>A (p.Gly292Arg)
|
rs1358994052
|
0.00001
|
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn)
|
rs1052471595
|
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_000292.3(PHKA2):c.557G>A (p.Arg186His)
|
rs137852290
|
0.00001
|
NM_000293.3(PHKB):c.306-2A>G
|
rs797044442
|
0.00001
|
NM_000294.3(PHKG2):c.469G>A (p.Glu157Lys)
|
rs752961445
|
0.00001
|
NM_000294.3(PHKG2):c.643G>A (p.Asp215Asn)
|
rs767427889
|
0.00001
|
NM_000294.3(PHKG2):c.835C>T (p.Arg279Cys)
|
rs994896967
|
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_000308.4(CTSA):c.1123C>T (p.Arg375Ter)
|
rs1189568492
|
0.00001
|
NM_000308.4(CTSA):c.146A>G (p.Gln49Arg)
|
rs137854541
|
0.00001
|
NM_000308.4(CTSA):c.869+1G>C
|
rs1987148852
|
0.00001
|
NM_000340.2(SLC2A2):c.1250C>T (p.Pro417Leu)
|
rs121909744
|
0.00001
|
NM_000340.2(SLC2A2):c.775+1G>A
|
rs756874949
|
0.00001
|
NM_000343.4(SLC5A1):c.1007G>A (p.Arg336His)
|
rs774651252
|
0.00001
|
NM_000352.6(ABCC8):c.1177-1G>A
|
rs1167993548
|
0.00001
|
NM_000352.6(ABCC8):c.1332G>T (p.Gln444His)
|
rs760062120
|
0.00001
|
NM_000352.6(ABCC8):c.1508T>C (p.Leu503Pro)
|
rs1554933168
|
0.00001
|
NM_000352.6(ABCC8):c.1532T>C (p.Leu511Pro)
|
rs797045206
|
0.00001
|
NM_000352.6(ABCC8):c.1576C>T (p.Arg526Cys)
|
rs751279984
|
0.00001
|
NM_000352.6(ABCC8):c.1671+1G>C
|
rs1057516509
|
0.00001
|
NM_000352.6(ABCC8):c.1732_1746dup (p.Ala578_Leu582dup)
|
rs757650373
|
0.00001
|
NM_000352.6(ABCC8):c.2116+2T>C
|
rs786204676
|
0.00001
|
NM_000352.6(ABCC8):c.2202del (p.Ala736fs)
|
rs1554924035
|
0.00001
|
NM_000352.6(ABCC8):c.220C>T (p.Arg74Trp)
|
rs201682634
|
0.00001
|
NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln)
|
rs72559734
|
0.00001
|
NM_000352.6(ABCC8):c.2556+1G>A
|
rs749271190
|
0.00001
|
NM_000352.6(ABCC8):c.2695-1G>C
|
rs1057517420
|
0.00001
|
NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter)
|
rs541269678
|
0.00001
|
NM_000352.6(ABCC8):c.3126_3127insAGGAACTG (p.Leu1043fs)
|
rs766033867
|
0.00001
|
NM_000352.6(ABCC8):c.331G>A (p.Gly111Arg)
|
rs761749884
|
0.00001
|
NM_000352.6(ABCC8):c.3544C>T (p.Arg1182Trp)
|
rs797045209
|
0.00001
|
NM_000352.6(ABCC8):c.3641G>A (p.Arg1214Gln)
|
rs367850779
|
0.00001
|
NM_000352.6(ABCC8):c.3784G>A (p.Ala1262Thr)
|
rs1266053680
|
0.00001
|
NM_000352.6(ABCC8):c.382G>A (p.Glu128Lys)
|
rs781617345
|
0.00001
|
NM_000352.6(ABCC8):c.4147G>A (p.Gly1383Arg)
|
rs748233295
|
0.00001
|
NM_000352.6(ABCC8):c.4306C>T (p.Arg1436Ter)
|
rs193922402
|
0.00001
|
NM_000352.6(ABCC8):c.4411G>A (p.Asp1471Asn)
|
rs72559716
|
0.00001
|
NM_000352.6(ABCC8):c.4432G>A (p.Gly1478Arg)
|
rs72559715
|
0.00001
|
NM_000352.6(ABCC8):c.4477C>T (p.Arg1493Trp)
|
rs28936371
|
0.00001
|
NM_000352.6(ABCC8):c.4478G>A (p.Arg1493Gln)
|
rs746480424
|
0.00001
|
NM_000352.6(ABCC8):c.4628T>C (p.Leu1543Pro)
|
rs72559713
|
0.00001
|
NM_000352.6(ABCC8):c.502C>T (p.Arg168Cys)
|
rs756823374
|
0.00001
|
NM_000352.6(ABCC8):c.693G>A (p.Trp231Ter)
|
rs1957198348
|
0.00001
|
NM_000352.6(ABCC8):c.742C>T (p.Arg248Ter)
|
rs72559730
|
0.00001
|
NM_000352.6(ABCC8):c.76T>A (p.Cys26Ser)
|
rs1462559571
|
0.00001
|
NM_000352.6(ABCC8):c.928G>A (p.Asp310Asn)
|
rs769569410
|
0.00001
|
NM_000352.6(ABCC8):c.946G>A (p.Gly316Arg)
|
rs1201126343
|
0.00001
|
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr)
|
rs76645461
|
0.00001
|
NM_000404.4(GLB1):c.1038G>T (p.Lys346Asn)
|
rs749980306
|
0.00001
|
NM_000404.4(GLB1):c.145C>T (p.Arg49Cys)
|
rs72555358
|
0.00001
|
NM_000404.4(GLB1):c.1479+1G>A
|
rs1022476871
|
0.00001
|
NM_000404.4(GLB1):c.1498A>G (p.Thr500Ala)
|
rs72555368
|
0.00001
|
NM_000404.4(GLB1):c.161G>A (p.Ser54Asn)
|
rs143423935
|
0.00001
|
NM_000404.4(GLB1):c.1646C>T (p.Pro549Leu)
|
rs776327443
|
0.00001
|
NM_000404.4(GLB1):c.1746G>A (p.Trp582Ter)
|
rs778375259
|
0.00001
|
NM_000404.4(GLB1):c.245+1G>A
|
rs778423653
|
0.00001
|
NM_000404.4(GLB1):c.245C>T (p.Thr82Met)
|
rs72555393
|
0.00001
|
NM_000404.4(GLB1):c.380G>T (p.Cys127Phe)
|
rs1699791081
|
0.00001
|
NM_000404.4(GLB1):c.397-1G>A
|
rs398123353
|
0.00001
|
NM_000404.4(GLB1):c.443G>A (p.Arg148His)
|
rs745864233
|
0.00001
|
NM_000404.4(GLB1):c.481T>G (p.Trp161Gly)
|
rs398123355
|
0.00001
|
NM_000404.4(GLB1):c.517C>G (p.Leu173Val)
|
rs1303774639
|
0.00001
|
NM_000404.4(GLB1):c.808T>G (p.Tyr270Asp)
|
rs376663785
|
0.00001
|
NM_000404.4(GLB1):c.809A>G (p.Tyr270Cys)
|
rs371546950
|
0.00001
|
NM_000404.4(GLB1):c.902C>T (p.Ala301Val)
|
rs750531880
|
0.00001
|
NM_000434.4(NEU1):c.238C>A (p.Pro80Thr)
|
rs1762543434
|
0.00001
|
NM_000434.4(NEU1):c.692T>A (p.Leu231His)
|
rs762400331
|
0.00001
|
NM_000507.4(FBP1):c.490G>A (p.Gly164Ser)
|
rs121918188
|
0.00001
|
NM_000507.4(FBP1):c.778G>A (p.Gly260Arg)
|
rs780803192
|
0.00001
|
NM_000512.5(GALNS):c.1162G>A (p.Asp388Asn)
|
rs373739301
|
0.00001
|
NM_000512.5(GALNS):c.1219A>C (p.Asn407His)
|
rs749578474
|
0.00001
|
NM_000512.5(GALNS):c.121A>T (p.Met41Leu)
|
rs1283377907
|
0.00001
|
NM_000512.5(GALNS):c.139G>A (p.Gly47Arg)
|
rs199638097
|
0.00001
|
NM_000512.5(GALNS):c.1445C>T (p.Ala482Val)
|
rs1909820489
|
0.00001
|
NM_000512.5(GALNS):c.1480A>G (p.Met494Val)
|
rs1401175486
|
0.00001
|
NM_000512.5(GALNS):c.1483-15A>G
|
rs1461992033
|
0.00001
|
NM_000512.5(GALNS):c.1483-1G>A
|
rs1223848239
|
0.00001
|
NM_000512.5(GALNS):c.1483-1G>C
|
rs1223848239
|
0.00001
|
NM_000512.5(GALNS):c.1483A>T (p.Asn495Tyr)
|
rs1404888504
|
0.00001
|
NM_000512.5(GALNS):c.1498G>A (p.Gly500Ser)
|
rs1303492021
|
0.00001
|
NM_000512.5(GALNS):c.1558T>C (p.Trp520Arg)
|
rs398123434
|
0.00001
|
NM_000512.5(GALNS):c.184A>T (p.Met62Leu)
|
rs1367462378
|
0.00001
|
NM_000512.5(GALNS):c.1A>G (p.Met1Val)
|
rs771531650
|
0.00001
|
NM_000512.5(GALNS):c.235T>C (p.Cys79Arg)
|
rs1478665723
|
0.00001
|
NM_000512.5(GALNS):c.280C>T (p.Arg94Cys)
|
rs118204441
|
0.00001
|
NM_000512.5(GALNS):c.281G>A (p.Arg94His)
|
rs727503946
|
0.00001
|
NM_000512.5(GALNS):c.338T>C (p.Ile113Thr)
|
rs979373729
|
0.00001
|
NM_000512.5(GALNS):c.451C>A (p.Pro151Thr)
|
rs781439830
|
0.00001
|
NM_000512.5(GALNS):c.452C>T (p.Pro151Leu)
|
rs559063128
|
0.00001
|
NM_000512.5(GALNS):c.463G>A (p.Gly155Arg)
|
rs398123438
|
0.00001
|
NM_000512.5(GALNS):c.466T>C (p.Phe156Leu)
|
rs1308500116
|
0.00001
|
NM_000512.5(GALNS):c.502G>A (p.Gly168Arg)
|
rs775732598
|
0.00001
|
NM_000512.5(GALNS):c.578A>G (p.Glu193Gly)
|
rs1427663367
|
0.00001
|
NM_000512.5(GALNS):c.602G>A (p.Gly201Glu)
|
rs772413313
|
0.00001
|
NM_000512.5(GALNS):c.638C>T (p.Ala213Val)
|
rs770239604
|
0.00001
|
NM_000512.5(GALNS):c.647T>C (p.Phe216Ser)
|
rs747805226
|
0.00001
|
NM_000512.5(GALNS):c.697G>A (p.Asp233Asn)
|
rs753051547
|
0.00001
|
NM_000512.5(GALNS):c.706C>T (p.His236Tyr)
|
rs1228027865
|
0.00001
|
NM_000512.5(GALNS):c.719A>G (p.Tyr240Cys)
|
rs752039956
|
0.00001
|
NM_000512.5(GALNS):c.752G>A (p.Arg251Gln)
|
rs1199639828
|
0.00001
|
NM_000512.5(GALNS):c.757C>T (p.Arg253Trp)
|
rs775300515
|
0.00001
|
NM_000512.5(GALNS):c.868G>A (p.Gly290Ser)
|
rs975409254
|
0.00001
|
NM_000512.5(GALNS):c.898+1G>C
|
rs761850746
|
0.00001
|
NM_000512.5(GALNS):c.910G>A (p.Gly304Ser)
|
rs764070268
|
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.79C>T (p.Arg27Cys)
|
rs752507753
|
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_000528.4(MAN2B1):c.1117A>T (p.Lys373Ter)
|
rs778554304
|
0.00001
|
NM_000528.4(MAN2B1):c.1259G>T (p.Gly420Val)
|
rs772853856
|
0.00001
|
NM_000528.4(MAN2B1):c.1420-1G>A
|
rs752229880
|
0.00001
|
NM_000528.4(MAN2B1):c.1528-1G>A
|
rs561991886
|
0.00001
|
NM_000528.4(MAN2B1):c.1583dup (p.Pro529fs)
|
rs748872992
|
0.00001
|
NM_000528.4(MAN2B1):c.1645-1G>A
|
rs938576591
|
0.00001
|
NM_000528.4(MAN2B1):c.1645-2A>T
|
rs891030696
|
0.00001
|
NM_000528.4(MAN2B1):c.1687G>T (p.Glu563Ter)
|
rs1057516927
|
0.00001
|
NM_000528.4(MAN2B1):c.222C>A (p.Asp74Glu)
|
rs746702002
|
0.00001
|
NM_000528.4(MAN2B1):c.2267+1G>A
|
rs1022927322
|
0.00001
|
NM_000528.4(MAN2B1):c.2436+2T>C
|
rs398123457
|
0.00001
|
NM_000528.4(MAN2B1):c.2820+1G>A
|
rs768734132
|
0.00001
|
NM_000528.4(MAN2B1):c.2920dup (p.Thr974fs)
|
rs774791244
|
0.00001
|
NM_000528.4(MAN2B1):c.422del (p.Asp141fs)
|
rs778399351
|
0.00001
|
NM_000528.4(MAN2B1):c.598C>A (p.His200Asn)
|
rs772108001
|
0.00001
|
NM_000528.4(MAN2B1):c.685C>T (p.Arg229Trp)
|
rs763257568
|
0.00001
|
NM_000528.4(MAN2B1):c.788C>T (p.Pro263Leu)
|
rs746808159
|
0.00001
|
NM_000528.4(MAN2B1):c.856G>A (p.Glu286Lys)
|
rs772562587
|
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_000642.3(AGL):c.100C>T (p.Arg34Ter)
|
rs781580050
|
0.00001
|
NM_000642.3(AGL):c.1078C>T (p.His360Tyr)
|
rs763554006
|
0.00001
|
NM_000642.3(AGL):c.1082+1G>C
|
rs751112302
|
0.00001
|
NM_000642.3(AGL):c.1735+1G>T
|
rs199922945
|
0.00001
|
NM_000642.3(AGL):c.1880A>G (p.Asp627Gly)
|
rs764236940
|
0.00001
|
NM_000642.3(AGL):c.2023C>T (p.Arg675Trp)
|
rs765749454
|
0.00001
|
NM_000642.3(AGL):c.22C>T (p.Arg8Ter)
|
rs1057516870
|
0.00001
|
NM_000642.3(AGL):c.22del (p.Arg8fs)
|
rs1215043175
|
0.00001
|
NM_000642.3(AGL):c.2309-1G>A
|
rs786204481
|
0.00001
|
NM_000642.3(AGL):c.2309-2A>G
|
rs1253347170
|
0.00001
|
NM_000642.3(AGL):c.2723T>G (p.Leu908Arg)
|
rs772347559
|
0.00001
|
NM_000642.3(AGL):c.2929C>T (p.Arg977Ter)
|
rs531425980
|
0.00001
|
NM_000642.3(AGL):c.3259+1G>A
|
rs1394576194
|
0.00001
|
NM_000642.3(AGL):c.3350dup (p.Tyr1117Ter)
|
rs1432024176
|
0.00001
|
NM_000642.3(AGL):c.3554del (p.Thr1185fs)
|
rs764318570
|
0.00001
|
NM_000642.3(AGL):c.3682C>T (p.Arg1228Ter)
|
rs113994131
|
0.00001
|
NM_000642.3(AGL):c.4353G>T (p.Trp1451Cys)
|
rs775685508
|
0.00001
|
NM_000642.3(AGL):c.664+3A>G
|
rs370792293
|
0.00001
|
NM_000642.3(AGL):c.685C>T (p.Gln229Ter)
|
rs971749992
|
0.00001
|
NM_000642.3(AGL):c.907C>T (p.Gln303Ter)
|
rs145362161
|
0.00001
|
NM_000642.3(AGL):c.94C>T (p.Gln32Ter)
|
rs786204489
|
0.00001
|
NM_000891.3(KCNJ2):c.637C>T (p.Arg213Ter)
|
rs764523123
|
0.00001
|
NM_001008216.2(GALE):c.280G>A (p.Val94Met)
|
rs121908047
|
0.00001
|
NM_001008216.2(GALE):c.284G>A (p.Gly95Asp)
|
rs1243531358
|
0.00001
|
NM_001008216.2(GALE):c.449C>T (p.Thr150Met)
|
rs765353795
|
0.00001
|
NM_001008216.2(GALE):c.715C>T (p.Arg239Trp)
|
rs137853860
|
0.00001
|
NM_001008216.2(GALE):c.796-1G>T
|
rs779828095
|
0.00001
|
NM_001040616.3(LINS1):c.1178T>G (p.Leu393Ter)
|
rs149644940
|
0.00001
|
NM_001040616.3(LINS1):c.1432G>T (p.Glu478Ter)
|
rs1163046936
|
0.00001
|
NM_001040716.2(PC):c.1368+1G>T
|
rs755640269
|
0.00001
|
NM_001040716.2(PC):c.2194C>T (p.Arg732Ter)
|
rs112948607
|
0.00001
|
NM_001040716.2(PC):c.633+2T>C
|
rs763433647
|
0.00001
|
NM_001040716.2(PC):c.806G>A (p.Arg269Gln)
|
rs1349343839
|
0.00001
|
NM_001164277.2(SLC37A4):c.1124+2dup
|
rs1459811938
|
0.00001
|
NM_001164277.2(SLC37A4):c.1A>G (p.Met1Val)
|
rs786204740
|
0.00001
|
NM_001164277.2(SLC37A4):c.287G>A (p.Trp96Ter)
|
rs121908976
|
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.458C>T (p.Pro153Leu)
|
rs193302890
|
0.00001
|
NM_001164277.2(SLC37A4):c.652C>T (p.Gln218Ter)
|
rs551439289
|
0.00001
|
NM_001164277.2(SLC37A4):c.81T>A (p.Asn27Lys)
|
rs193302889
|
0.00001
|
NM_001164277.2(SLC37A4):c.833T>A (p.Ile278Asn)
|
rs193302900
|
0.00001
|
NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His)
|
rs121908978
|
0.00001
|
NM_001164277.2(SLC37A4):c.898C>T (p.Arg300Cys)
|
rs193302880
|
0.00001
|
NM_001352514.2(HLCS):c.1088T>G (p.Leu363Arg)
|
rs28934602
|
0.00001
|
NM_001352514.2(HLCS):c.1621-2A>G
|
rs750728042
|
0.00001
|
NM_001352514.2(HLCS):c.1850T>C (p.Leu617Ser)
|
rs1261821166
|
0.00001
|
NM_001352514.2(HLCS):c.2527C>T (p.Gln843Ter)
|
rs1466111134
|
0.00001
|
NM_001352514.2(HLCS):c.2567C>T (p.Pro856Leu)
|
rs1260631800
|
0.00001
|
NM_001352514.2(HLCS):c.2585A>C (p.Asp862Ala)
|
rs752737867
|
0.00001
|
NM_001352514.2(HLCS):c.712_713del (p.Arg238fs)
|
rs1284747916
|
0.00001
|
NM_001358263.1(HK1):c.19C>T (p.Arg7Ter)
|
rs779250530
|
0.00001
|
NM_001360016.2(G6PD):c.1004C>A (p.Ala335Asp)
|
rs1557229854
|
0.00001
|
NM_001360016.2(G6PD):c.1347G>C (p.Gln449His)
|
rs1557229572
|
0.00001
|
NM_001360016.2(G6PD):c.1366G>A (p.Asp456Asn)
|
rs782317415
|
0.00001
|
NM_001360016.2(G6PD):c.242G>A (p.Arg81His)
|
rs782308266
|
0.00001
|
NM_001360016.2(G6PD):c.551C>T (p.Ser184Phe)
|
rs782315572
|
0.00001
|
NM_001360016.2(G6PD):c.660C>G (p.Ile220Met)
|
rs782771682
|
0.00001
|
NM_001360016.2(G6PD):c.973G>A (p.Asp325Asn)
|
rs781906610
|
0.00001
|
NM_001370658.1(BTD):c.-17+2T>C
|
rs745648160
|
0.00001
|
NM_001370658.1(BTD):c.1154T>C (p.Leu385Pro)
|
rs397514406
|
0.00001
|
NM_001370658.1(BTD):c.1193G>C (p.Cys398Ser)
|
rs397514410
|
0.00001
|
NM_001370658.1(BTD):c.1207T>C (p.Cys403Arg)
|
rs397514412
|
0.00001
|
NM_001370658.1(BTD):c.1246G>A (p.Glu416Lys)
|
rs749460715
|
0.00001
|
NM_001370658.1(BTD):c.124G>A (p.Val42Met)
|
rs397507170
|
0.00001
|
NM_001370658.1(BTD):c.1274G>T (p.Gly425Val)
|
rs397514402
|
0.00001
|
NM_001370658.1(BTD):c.1324del (p.Arg442fs)
|
rs397514420
|
0.00001
|
NM_001370658.1(BTD):c.1543C>G (p.Leu515Val)
|
rs771537277
|
0.00001
|
NM_001370658.1(BTD):c.1553G>A (p.Arg518His)
|
rs397514429
|
0.00001
|
NM_001370658.1(BTD):c.175C>T (p.Arg59Cys)
|
rs104893687
|
0.00001
|
NM_001370658.1(BTD):c.176G>A (p.Arg59His)
|
rs397514343
|
0.00001
|
NM_001370658.1(BTD):c.197T>G (p.Met66Arg)
|
rs587783002
|
0.00001
|
NM_001370658.1(BTD):c.249+1G>T
|
rs373249212
|
0.00001
|
NM_001370658.1(BTD):c.250-15del
|
rs587783008
|
0.00001
|
NM_001370658.1(BTD):c.265G>C (p.Val89Leu)
|
rs372416959
|
0.00001
|
NM_001370658.1(BTD):c.281G>T (p.Gly94Val)
|
rs375712490
|
0.00001
|
NM_001370658.1(BTD):c.320C>T (p.Pro107Leu)
|
rs575787457
|
0.00001
|
NM_001370658.1(BTD):c.360G>A (p.Trp120Ter)
|
rs1306944669
|
0.00001
|
NM_001370658.1(BTD):c.385T>C (p.Phe129Leu)
|
rs397514359
|
0.00001
|
NM_001370658.1(BTD):c.409C>T (p.Arg137Cys)
|
rs397514363
|
0.00001
|
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser)
|
rs119103232
|
0.00001
|
NM_001370658.1(BTD):c.571C>T (p.Arg191Cys)
|
rs372844636
|
0.00001
|
NM_001370658.1(BTD):c.572G>A (p.Arg191His)
|
rs112195009
|
0.00001
|
NM_001370658.1(BTD):c.577del (p.His193fs)
|
rs780874850
|
0.00001
|
NM_001370658.1(BTD):c.649G>A (p.Ala217Thr)
|
rs397514381
|
0.00001
|
NM_001370658.1(BTD):c.674G>A (p.Cys225Tyr)
|
rs397507175
|
0.00001
|
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr)
|
rs397514382
|
0.00001
|
NM_001370658.1(BTD):c.697C>T (p.Pro233Ser)
|
rs397514383
|
0.00001
|
NM_001370658.1(BTD):c.704T>C (p.Ile235Thr)
|
rs397514384
|
0.00001
|
NM_001370658.1(BTD):c.754T>G (p.Trp252Gly)
|
rs397514387
|
0.00001
|
NM_001370658.1(BTD):c.941_942del (p.Ile314fs)
|
rs749162799
|
0.00001
|
NM_001543.5(NDST1):c.1831G>A (p.Gly611Ser)
|
rs606231459
|
0.00001
|
NM_001807.6(CEL):c.703C>T (p.Arg235Ter)
|
rs778611627
|
0.00001
|
NM_001931.5(DLAT):c.1728C>A (p.Phe576Leu)
|
rs119103240
|
0.00001
|
NM_002103.5(GYS1):c.1170-2A>G
|
rs1219432457
|
0.00001
|
NM_002299.4(LCT):c.4087G>A (p.Gly1363Ser)
|
rs386833833
|
0.00001
|
NM_002637.4(PHKA1):c.2527-1G>T
|
rs1556257317
|
0.00001
|
NM_002863.5(PYGL):c.2024C>T (p.Ser675Leu)
|
rs113993986
|
0.00001
|
NM_002863.5(PYGL):c.697G>A (p.Gly233Ser)
|
rs749922511
|
0.00001
|
NM_003041.4(SLC5A2):c.294_295insTT (p.Glu99fs)
|
rs770214617
|
0.00001
|
NM_003384.3(VRK1):c.266G>A (p.Arg89Gln)
|
rs773138218
|
0.00001
|
NM_003384.3(VRK1):c.889+1G>T
|
rs1482696609
|
0.00001
|
NM_003477.3(PDHX):c.1292T>C (p.Val431Ala)
|
rs756023441
|
0.00001
|
NM_003477.3(PDHX):c.1336C>T (p.Arg446Ter)
|
rs1135402725
|
0.00001
|
NM_004130.4(GYG1):c.481+2T>C
|
rs1173594490
|
0.00001
|
NM_004130.4(GYG1):c.970C>T (p.Arg324Ter)
|
rs727502869
|
0.00001
|
NM_004830.4(MED23):c.3353C>G (p.Ser1118Ter)
|
rs769471341
|
0.00001
|
NM_004830.4(MED23):c.3982C>T (p.Arg1328Cys)
|
rs766478634
|
0.00001
|
NM_005327.7(HADH):c.280G>C (p.Glu94Gln)
|
rs1274785101
|
0.00001
|
NM_005609.4(PYGM):c.107T>G (p.Leu36Arg)
|
rs1394188143
|
0.00001
|
NM_005609.4(PYGM):c.1092+1G>A
|
rs749560316
|
0.00001
|
NM_005609.4(PYGM):c.1147G>A (p.Glu383Lys)
|
rs757681143
|
0.00001
|
NM_005609.4(PYGM):c.1193C>T (p.Pro398Leu)
|
rs773204705
|
0.00001
|
NM_005609.4(PYGM):c.1349C>T (p.Ser450Leu)
|
rs756251887
|
0.00001
|
NM_005609.4(PYGM):c.1708C>T (p.Arg570Trp)
|
rs377225525
|
0.00001
|
NM_005609.4(PYGM):c.1709G>A (p.Arg570Gln)
|
rs143550601
|
0.00001
|
NM_005609.4(PYGM):c.1723A>G (p.Lys575Glu)
|
rs1315020035
|
0.00001
|
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter)
|
rs119103255
|
0.00001
|
NM_005609.4(PYGM):c.1827G>A (p.Lys609=)
|
rs119103259
|
0.00001
|
NM_005609.4(PYGM):c.1963G>A (p.Glu655Lys)
|
rs119103253
|
0.00001
|
NM_005609.4(PYGM):c.2111C>T (p.Ala704Val)
|
rs1483102315
|
0.00001
|
NM_005609.4(PYGM):c.549G>A (p.Trp183Ter)
|
rs1223885403
|
0.00001
|
NM_005609.4(PYGM):c.580C>T (p.Arg194Trp)
|
rs376581557
|
0.00001
|
NM_005609.4(PYGM):c.661-601G>A
|
rs1474863903
|
0.00001
|
NM_005609.4(PYGM):c.78_79del (p.Glu27fs)
|
rs755117847
|
0.00001
|
NM_005670.4(EPM2A):c.302-1G>C
|
rs369463720
|
0.00001
|
NM_005908.4(MANBA):c.1622G>A (p.Trp541Ter)
|
rs771865668
|
0.00001
|
NM_005908.4(MANBA):c.2352_2356del (p.Thr785fs)
|
rs1341763493
|
0.00001
|
NM_005908.4(MANBA):c.960+1G>A
|
rs890870104
|
0.00001
|
NM_006279.5(ST3GAL3):c.1046C>T (p.Thr349Met)
|
rs1201878175
|
0.00001
|
NM_006516.4(SLC2A1):c.286A>G (p.Met96Val)
|
rs753161833
|
0.00001
|
NM_006618.5(KDM5B):c.2251C>T (p.Arg751Ter)
|
rs1287727763
|
0.00001
|
NM_006618.5(KDM5B):c.895C>T (p.Arg299Ter)
|
rs1558498928
|
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_006859.4(LIAS):c.954+1G>A
|
rs965952835
|
0.00001
|
NM_012203.2(GRHPR):c.102G>A (p.Trp34Ter)
|
rs180177304
|
0.00001
|
NM_012203.2(GRHPR):c.214+1G>T
|
rs1244822375
|
0.00001
|
NM_012203.2(GRHPR):c.337G>A (p.Glu113Lys)
|
rs180177307
|
0.00001
|
NM_012203.2(GRHPR):c.404+5G>A
|
rs757796926
|
0.00001
|
NM_012203.2(GRHPR):c.454dup (p.Thr152fs)
|
rs771019056
|
0.00001
|
NM_012203.2(GRHPR):c.478G>A (p.Gly160Arg)
|
rs180177312
|
0.00001
|
NM_012203.2(GRHPR):c.494G>A (p.Gly165Asp)
|
rs180177314
|
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_012203.2(GRHPR):c.958G>T (p.Glu320Ter)
|
rs1331106064
|
0.00001
|
NM_012434.5(SLC17A5):c.1007_1008del (p.Leu336fs)
|
rs386833987
|
0.00001
|
NM_012434.5(SLC17A5):c.1016G>A (p.Trp339Ter)
|
rs1057516910
|
0.00001
|
NM_012434.5(SLC17A5):c.1109_1111+2del
|
rs1767805645
|
0.00001
|
NM_012434.5(SLC17A5):c.1111+1G>A
|
rs777862172
|
0.00001
|
NM_012434.5(SLC17A5):c.116G>A (p.Arg39His)
|
rs769235753
|
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_012434.5(SLC17A5):c.500T>C (p.Leu167Pro)
|
rs587779410
|
0.00001
|
NM_012434.5(SLC17A5):c.667dup (p.Tyr223fs)
|
rs1472109408
|
0.00001
|
NM_012434.5(SLC17A5):c.95-1G>C
|
rs386833995
|
0.00001
|
NM_014168.4(METTL5):c.362A>G (p.Asp121Gly)
|
rs760916142
|
0.00001
|
NM_016042.4(EXOSC3):c.572G>A (p.Gly191Asp)
|
rs797045567
|
0.00001
|
NM_016219.5(MAN1B1):c.1942C>T (p.Gln648Ter)
|
rs1164484724
|
0.00001
|
NM_017721.5(CC2D1A):c.511_513+1del
|
rs777057767
|
0.00001
|
NM_018255.4(ELP2):c.617A>G (p.His206Arg)
|
rs773432002
|
0.00001
|
NM_020374.4(C12orf4):c.1360C>T (p.Arg454Ter)
|
rs749969789
|
0.00001
|
NM_021957.4(GYS2):c.1081del (p.Thr361fs)
|
rs771205749
|
0.00001
|
NM_021957.4(GYS2):c.1229+1G>A
|
rs764539267
|
0.00001
|
NM_021957.4(GYS2):c.1230-1G>A
|
rs766733439
|
0.00001
|
NM_024989.4(PGAP1):c.2204T>A (p.Leu735Ter)
|
rs1361547443
|
0.00001
|
NM_024989.4(PGAP1):c.2286+1G>A
|
rs1406991265
|
0.00001
|
NM_031229.4(RBCK1):c.1160A>G (p.Asn387Ser)
|
rs566912235
|
0.00001
|
NM_031229.4(RBCK1):c.697_703dup (p.Glu235fs)
|
rs730880330
|
0.00001
|
NM_138413.4(HOGA1):c.123del (p.Pro41_Val42insTer)
|
rs1419840309
|
0.00001
|
NM_138413.4(HOGA1):c.221T>G (p.Val74Gly)
|
rs796052084
|
0.00001
|
NM_138413.4(HOGA1):c.341-1G>A
|
rs1554874130
|
0.00001
|
NM_138413.4(HOGA1):c.529G>T (p.Asp177Tyr)
|
rs777601935
|
0.00001
|
NM_138413.4(HOGA1):c.533T>A (p.Leu178Gln)
|
rs796052090
|
0.00001
|
NM_138413.4(HOGA1):c.634A>G (p.Thr212Ala)
|
rs779492256
|
0.00001
|
NM_138413.4(HOGA1):c.700+2T>G
|
rs990830655
|
0.00001
|
NM_138413.4(HOGA1):c.818T>C (p.Ile273Thr)
|
rs758795356
|
0.00001
|
NM_138413.4(HOGA1):c.834+1G>T
|
rs749315029
|
0.00001
|
NM_138775.3(ALKBH8):c.1421_1429del (p.His474_Ala477delinsPro)
|
rs1565312540
|
0.00001
|
NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys)
|
rs121908285
|
0.00001
|
NM_152419.3(HGSNAT):c.1129-2A>T
|
rs749568919
|
0.00001
|
NM_152419.3(HGSNAT):c.118+1G>A
|
rs1324229618
|
0.00001
|
NM_152419.3(HGSNAT):c.1445T>A (p.Met482Lys)
|
rs121908284
|
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_152419.3(HGSNAT):c.852-2A>C
|
rs755710040
|
0.00001
|
NM_153747.2(PIGC):c.635T>C (p.Leu212Pro)
|
rs1553259602
|
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
|
NM_198586.3(NHLRC1):c.204C>A (p.Cys68Ter)
|
rs769144119
|
0.00001
|
G6PD A-
|
|
|
G6PD NARA
|
rs587776730
|
|
GRCh37/hg19 3q26.1(chr3:164696665-164751252)
|
|
|
GRCh37/hg19 3q26.1(chr3:164714302-164716481)
|
|
|
HNF4A deletion
|
|
|
NC_000001.10:g.(?_100335936)_(100336445_?)del
|
|
|
NC_000001.10:g.(?_24186268)_(24186413_?)dup
|
|
|
NC_000001.10:g.100330092T>A
|
rs794729208
|
|
NC_000001.11:g.(?_99921514)_(99921671_?)del
|
|
|
NC_000001.11:g.(?_99921524)_(99921661_?)del
|
|
|
NC_000003.11:g.(?_81538849)_(81539615_81548260)del
|
|
|
NC_000003.11:g.(?_81640178)_(81643184_?)dup
|
|
|
NC_000003.12:g.(?_81490387)_(81705633_?)del
|
|
|
NC_000003.12:g.(?_81490397)_(81490473_?)del
|
|
|
NC_000004.11:g.(103635719_103644027)_(103645125_103647745)del
|
|
|
NC_000004.11:g.(?_103635575)_(103635738_?)dup
|
|
|
NC_000005.9:g.(78135250_78181406)_(78181651_78251117)dup
|
|
|
NC_000005.9:g.(?_78135159)_(78135269_?)dup
|
|
|
NC_000005.9:g.(?_78181397)_(78181660_?)dup
|
|
|
NC_000006.11:g.(?_74303101)_(74310165_74320122)del
|
|
|
NC_000006.11:g.(?_74310064)_(74310174_?)dup
|
|
|
NC_000006.12:g.(?_73610390)_(73615457_?)dup
|
|
|
NC_000008.10:g.(43024386_43025727)_(43027530_43028855)del
|
|
|
NC_000008.10:g.(?_43028846)_(43028896_?)dup
|
|
|
NC_000009.11:g.(?_104184081)_(104184196_?)del
|
|
|
NC_000009.12:g.101435743_101435818del
|
rs2118377686
|
|
NC_000009.12:g.94620330_94620492del
|
rs1563984164
|
|
NC_000011.10:g.(?_64746639)_(64747378_?)del
|
|
|
NC_000011.10:g.(?_64758236)_(64758714_?)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_000012.11:g.(?_65133151)_(65146547_?)dup
|
|
|
NC_000016.10:g.47614206_47644831del
|
|
|
NC_000016.10:g.88779266_88827672del
|
|
|
NC_000016.9:g.(87925561_87935517)_(87970113_?)del
|
|
|
NC_000016.9:g.(?_47531290)_(47549532_?)dup
|
|
|
NC_000016.9:g.(?_47614186)_(47644851_?)dup
|
|
|
NC_000016.9:g.(?_47621559)_(47630462_?)dup
|
|
|
NC_000016.9:g.(?_47644717)_(47644851_?)dup
|
|
|
NC_000016.9:g.(?_87935498)_(87938530_?)dup
|
|
|
NC_000016.9:g.(?_88884395)_(88884552_?)del
|
|
|
NC_000016.9:g.(?_88893090)_(88904193_?)del
|
|
|
NC_000017.10:g.(73754681_73758784)_(73761281_?)del
|
|
|
NC_000017.10:g.(?_40690337)_(40690793_?)dup
|
|
|
NC_000017.10:g.(?_41061310)_(41061445_?)dup
|
|
|
NC_000017.11:g.(?_80107537)_(80113386_?)del
|
|
|
NC_000017.11:g.42910915_42911427del
|
rs2056090806
|
|
NC_000017.11:g.80114186_80114187ins[80114172_80114186;NC_000020.11:g.2823027_2826302;AAA]
|
|
|
NC_000019.9:g.(?_12760707)_(12763294_?)dup
|
|
|
NC_000019.9:g.(?_12760717)_(12761046_?)dup
|
|
|
NC_000021.8:g.(?_38126547)_(38139606_?)del
|
|
|
NC_000023.10:g.(?_119589192)_(119589445_?)dup
|
|
|
NM_000027.4(AGA):c.102_108del (p.Thr33_Trp34insTer)
|
rs386833417
|
|
NM_000027.4(AGA):c.10A>T (p.Lys4Ter)
|
|
|
NM_000027.4(AGA):c.121G>T (p.Glu41Ter)
|
rs1560952256
|
|
NM_000027.4(AGA):c.127+1G>A
|
rs1057516565
|
|
NM_000027.4(AGA):c.127_128insATGCGG (p.Ala42_Ala43insAspAla)
|
rs386833418
|
|
NM_000027.4(AGA):c.128-2A>C
|
|
|
NM_000027.4(AGA):c.179G>A (p.Gly60Asp)
|
rs121964907
|
|
NM_000027.4(AGA):c.192T>A (p.Cys64Ter)
|
rs386833419
|
|
NM_000027.4(AGA):c.192del (p.Cys64fs)
|
rs1553994830
|
|
NM_000027.4(AGA):c.198_201del (p.Arg66fs)
|
|
|
NM_000027.4(AGA):c.200_201del (p.Glu67fs)
|
rs386833420
|
|
NM_000027.4(AGA):c.200_201dup (p.Gln68fs)
|
|
|
NM_000027.4(AGA):c.281+1G>T
|
rs1553994812
|
|
NM_000027.4(AGA):c.282-2A>G
|
|
|
NM_000027.4(AGA):c.28del (p.Leu10fs)
|
rs1057517062
|
|
NM_000027.4(AGA):c.299G>A (p.Gly100Glu)
|
rs386833421
|
|
NM_000027.4(AGA):c.302C>T (p.Ala101Val)
|
rs121964908
|
|
NM_000027.4(AGA):c.325A>T (p.Lys109Ter)
|
|
|
NM_000027.4(AGA):c.329del (p.Asn110fs)
|
rs764357395
|
|
NM_000027.4(AGA):c.333del (p.Ile112fs)
|
rs1057517223
|
|
NM_000027.4(AGA):c.336del (p.Ile112fs)
|
rs386833422
|
|
NM_000027.4(AGA):c.346C>T (p.Arg116Trp)
|
rs386833423
|
|
NM_000027.4(AGA):c.365C>A (p.Thr122Lys)
|
rs771563230
|
|
NM_000027.4(AGA):c.367_371del (p.Thr123fs)
|
rs1736928101
|
|
NM_000027.4(AGA):c.369_373del (p.His124fs)
|
rs386833424
|
|
NM_000027.4(AGA):c.373_376del (p.Thr125fs)
|
rs386833425
|
|
NM_000027.4(AGA):c.375_376del (p.Leu126fs)
|
rs386833425
|
|
NM_000027.4(AGA):c.375_378del (p.Thr125_Leu126insTer)
|
|
|
NM_000027.4(AGA):c.376del (p.Leu126fs)
|
rs1553994755
|
|
NM_000027.4(AGA):c.39del (p.Leu15fs)
|
|
|
NM_000027.4(AGA):c.3G>A (p.Met1Ile)
|
|
|
NM_000027.4(AGA):c.3G>C (p.Met1Ile)
|
rs937973897
|
|
NM_000027.4(AGA):c.44T>G (p.Leu15Arg)
|
rs386833429
|
|
NM_000027.4(AGA):c.490C>T (p.Gln164Ter)
|
rs1057517329
|
|
NM_000027.4(AGA):c.507+1G>C
|
|
|
NM_000027.4(AGA):c.508-2A>C
|
|
|
NM_000027.4(AGA):c.537C>A (p.Cys179Ter)
|
rs748171793
|
|
NM_000027.4(AGA):c.552del (p.Pro185fs)
|
|
|
NM_000027.4(AGA):c.595G>T (p.Glu199Ter)
|
rs370078048
|
|
NM_000027.4(AGA):c.595_596del (p.Glu199fs)
|
|
|
NM_000027.4(AGA):c.623-2A>G
|
rs1483909684
|
|
NM_000027.4(AGA):c.698+1G>A
|
rs1057517175
|
|
NM_000027.4(AGA):c.698+1G>T
|
rs1057517175
|
|
NM_000027.4(AGA):c.698+2T>C
|
rs2111013260
|
|
NM_000027.4(AGA):c.70del (p.Ser24fs)
|
rs1057517239
|
|
NM_000027.4(AGA):c.735dup (p.Tyr246fs)
|
|
|
NM_000027.4(AGA):c.754G>C (p.Gly252Arg)
|
rs386833432
|
|
NM_000027.4(AGA):c.755G>A (p.Gly252Glu)
|
rs386833433
|
|
NM_000027.4(AGA):c.788del (p.Ile262_Leu263insTer)
|
rs386833435
|
|
NM_000027.4(AGA):c.807-1G>A
|
|
|
NM_000027.4(AGA):c.904G>C (p.Gly302Arg)
|
|
|
NM_000027.4(AGA):c.916T>C (p.Cys306Arg)
|
rs121964906
|
|
NM_000027.4(AGA):c.940+1G>A
|
rs386833437
|
|
NM_000027.4(AGA):c.941-1G>T
|
|
|
NM_000027.4(AGA):c.941-2A>G
|
rs1553993921
|
|
NM_000027.4(AGA):c.993T>G (p.Tyr331Ter)
|
rs1201784742
|
|
NM_000030.3(AGXT):c.1007T>A (p.Val336Asp)
|
rs180177155
|
|
NM_000030.3(AGXT):c.1014C>A (p.Tyr338Ter)
|
|
|
NM_000030.3(AGXT):c.1049G>A (p.Gly350Asp)
|
rs180177156
|
|
NM_000030.3(AGXT):c.1072-1G>A
|
|
|
NM_000030.3(AGXT):c.1076T>C (p.Leu359Pro)
|
rs180177160
|
|
NM_000030.3(AGXT):c.1093_1094del (p.Gly365fs)
|
|
|
NM_000030.3(AGXT):c.121G>C (p.Gly41Arg)
|
|
|
NM_000030.3(AGXT):c.126del (p.Leu43fs)
|
rs180177171
|
|
NM_000030.3(AGXT):c.126dup (p.Leu43fs)
|
rs180177171
|
|
NM_000030.3(AGXT):c.130C>T (p.Gln44Ter)
|
rs180177172
|
|
NM_000030.3(AGXT):c.139G>C (p.Gly47Arg)
|
|
|
NM_000030.3(AGXT):c.140G>A (p.Gly47Glu)
|
|
|
NM_000030.3(AGXT):c.165+1G>T
|
|
|
NM_000030.3(AGXT):c.166-11_166-8delinsTGCATGCAAGAT
|
|
|
NM_000030.3(AGXT):c.188G>A (p.Gly63Asp)
|
|
|
NM_000030.3(AGXT):c.190A>T (p.Ile64Phe)
|
|
|
NM_000030.3(AGXT):c.191T>A (p.Ile64Asn)
|
|
|
NM_000030.3(AGXT):c.198C>A (p.Tyr66Ter)
|
rs121908521
|
|
NM_000030.3(AGXT):c.221_227dup (p.Val77fs)
|
rs180177183
|
|
NM_000030.3(AGXT):c.238_239insTTGCCAA (p.Gly80fs)
|
|
|
NM_000030.3(AGXT):c.239_251del (p.Gly80fs)
|
|
|
NM_000030.3(AGXT):c.23_24delinsAT (p.Val8Asp)
|
|
|
NM_000030.3(AGXT):c.242C>G (p.Ser81Trp)
|
|
|
NM_000030.3(AGXT):c.244G>A (p.Gly82Arg)
|
|
|
NM_000030.3(AGXT):c.252T>A (p.Cys84Ter)
|
rs2058978388
|
|
NM_000030.3(AGXT):c.259del (p.Glu87fs)
|
|
|
NM_000030.3(AGXT):c.268dup (p.Leu90fs)
|
|
|
NM_000030.3(AGXT):c.279del (p.Leu94fs)
|
|
|
NM_000030.3(AGXT):c.283G>T (p.Glu95Ter)
|
|
|
NM_000030.3(AGXT):c.292G>C (p.Asp98His)
|
|
|
NM_000030.3(AGXT):c.299_307dup (p.Val102_Gly103insValLeuVal)
|
rs180177193
|
|
NM_000030.3(AGXT):c.302T>C (p.Leu101Pro)
|
rs180177195
|
|
NM_000030.3(AGXT):c.305T>A (p.Val102Asp)
|
rs1304689724
|
|
NM_000030.3(AGXT):c.31_32insT (p.Pro11fs)
|
rs2106427288
|
|
NM_000030.3(AGXT):c.322T>C (p.Trp108Arg)
|
rs180177197
|
|
NM_000030.3(AGXT):c.326G>A (p.Gly109Glu)
|
|
|
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg)
|
rs34116584
|
|
NM_000030.3(AGXT):c.335C>A (p.Ala112Asp)
|
rs796052061
|
|
NM_000030.3(AGXT):c.33del (p.Lys12fs)
|
rs180177201
|
|
NM_000030.3(AGXT):c.34_35dup (p.Ala13fs)
|
|
|
NM_000030.3(AGXT):c.352C>A (p.Arg118Ser)
|
|
|
NM_000030.3(AGXT):c.358G>A (p.Gly120Arg)
|
rs747043550
|
|
NM_000030.3(AGXT):c.358G>T (p.Gly120Ter)
|
rs747043550
|
|
NM_000030.3(AGXT):c.359-2A>G
|
|
|
NM_000030.3(AGXT):c.374_381del (p.Pro125fs)
|
rs2058986184
|
|
NM_000030.3(AGXT):c.386_395del (p.Asp129fs)
|
|
|
NM_000030.3(AGXT):c.389del (p.Pro130fs)
|
|
|
NM_000030.3(AGXT):c.412G>T (p.Glu138Ter)
|
rs2058986411
|
|
NM_000030.3(AGXT):c.423+1G>A
|
rs1553648493
|
|
NM_000030.3(AGXT):c.423+2T>C
|
|
|
NM_000030.3(AGXT):c.423G>C (p.Glu141Asp)
|
rs180177217
|
|
NM_000030.3(AGXT):c.433del (p.Gln145fs)
|
|
|
NM_000030.3(AGXT):c.439A>T (p.Lys147Ter)
|
rs1193344118
|
|
NM_000030.3(AGXT):c.469G>C (p.Glu157Gln)
|
|
|
NM_000030.3(AGXT):c.473C>T (p.Ser158Leu)
|
rs180177225
|
|
NM_000030.3(AGXT):c.482G>A (p.Gly161Asp)
|
|
|
NM_000030.3(AGXT):c.490C>T (p.Gln164Ter)
|
|
|
NM_000030.3(AGXT):c.517T>C (p.Cys173Arg)
|
rs2106428650
|
|
NM_000030.3(AGXT):c.524+2T>A
|
rs1553648568
|
|
NM_000030.3(AGXT):c.525-2A>T
|
|
|
NM_000030.3(AGXT):c.528C>A (p.Tyr176Ter)
|
|
|
NM_000030.3(AGXT):c.533G>A (p.Cys178Tyr)
|
rs180177235
|
|
NM_000030.3(AGXT):c.534C>G (p.Cys178Trp)
|
rs1400552764
|
|
NM_000030.3(AGXT):c.536delinsACTGGAGG (p.Leu179fs)
|
|
|
NM_000030.3(AGXT):c.547G>A (p.Asp183Asn)
|
rs180177236
|
|
NM_000030.3(AGXT):c.560C>A (p.Ser187Tyr)
|
|
|
NM_000030.3(AGXT):c.569_570insA (p.Thr191fs)
|
|
|
NM_000030.3(AGXT):c.577del (p.Leu193fs)
|
rs180177241
|
|
NM_000030.3(AGXT):c.579_580del (p.Tyr194fs)
|
|
|
NM_000030.3(AGXT):c.584T>G (p.Met195Arg)
|
rs180177244
|
|
NM_000030.3(AGXT):c.595+1G>A
|
|
|
NM_000030.3(AGXT):c.597_601del (p.Ile200fs)
|
|
|
NM_000030.3(AGXT):c.602A>T (p.Asp201Val)
|
|
|
NM_000030.3(AGXT):c.627G>T (p.Lys209Asn)
|
|
|
NM_000030.3(AGXT):c.632T>G (p.Leu211Arg)
|
|
|
NM_000030.3(AGXT):c.638C>A (p.Ala213Asp)
|
|
|
NM_000030.3(AGXT):c.646G>A (p.Gly216Arg)
|
rs180177252
|
|
NM_000030.3(AGXT):c.653C>A (p.Ser218Ter)
|
rs180177253
|
|
NM_000030.3(AGXT):c.662_664del (p.Ser221del)
|
rs796052071
|
|
NM_000030.3(AGXT):c.667A>C (p.Ser223Arg)
|
|
|
NM_000030.3(AGXT):c.673_676del (p.Lys225fs)
|
rs1057516896
|
|
NM_000030.3(AGXT):c.681-1G>A
|
|
|
NM_000030.3(AGXT):c.681-1G>T
|
rs112673831
|
|
NM_000030.3(AGXT):c.683AGA[1] (p.Lys229del)
|
rs1553648979
|
|
NM_000030.3(AGXT):c.706A>T (p.Lys236Ter)
|
|
|
NM_000030.3(AGXT):c.737G>A (p.Trp246Ter)
|
rs180177259
|
|
NM_000030.3(AGXT):c.751_752delinsAA (p.Trp251Lys)
|
rs796052072
|
|
NM_000030.3(AGXT):c.757T>C (p.Cys253Arg)
|
rs180177264
|
|
NM_000030.3(AGXT):c.776+2T>G
|
rs1553649007
|
|
NM_000030.3(AGXT):c.779A>G (p.Tyr260Cys)
|
|
|
NM_000030.3(AGXT):c.781C>G (p.His261Asp)
|
rs778567956
|
|
NM_000030.3(AGXT):c.79G>T (p.Gly27Trp)
|
|
|
NM_000030.3(AGXT):c.807dup (p.Tyr270fs)
|
|
|
NM_000030.3(AGXT):c.826_827delinsGA (p.Leu276Glu)
|
|
|
NM_000030.3(AGXT):c.838del (p.Ala280fs)
|
rs2106430924
|
|
NM_000030.3(AGXT):c.847-1G>C
|
rs180177285
|
|
NM_000030.3(AGXT):c.847-2_847-1del
|
rs1553649375
|
|
NM_000030.3(AGXT):c.848del
|
|
|
NM_000030.3(AGXT):c.891T>G (p.Tyr297Ter)
|
rs180177292
|
|
NM_000030.3(AGXT):c.934A>T (p.Lys312Ter)
|
|
|
NM_000030.3(AGXT):c.943-1G>T
|
rs180177298
|
|
NM_000030.3(AGXT):c.973del (p.Ala325fs)
|
rs2059037657
|
|
NM_000030.3(AGXT):c.983_988del (p.Ala328_Tyr330delinsAsp)
|
rs180177302
|
|
NM_000030.3(AGXT):c.996G>A (p.Trp332Ter)
|
rs796052064
|
|
NM_000035.4(ALDOB):c.1007_1008delinsT (p.Cys336fs)
|
rs1831052831
|
|
NM_000035.4(ALDOB):c.1044_1049delinsACACT (p.Ser349fs)
|
rs2118332973
|
|
NM_000035.4(ALDOB):c.10C>T (p.Arg4Ter)
|
rs118204428
|
|
NM_000035.4(ALDOB):c.112+1G>A
|
rs2118366070
|
|
NM_000035.4(ALDOB):c.112+1del
|
rs1057516534
|
|
NM_000035.4(ALDOB):c.113-1G>A
|
rs748663340
|
|
NM_000035.4(ALDOB):c.113-1G>C
|
rs748663340
|
|
NM_000035.4(ALDOB):c.113-1_115del
|
rs786204598
|
|
NM_000035.4(ALDOB):c.113-2A>G
|
|
|
NM_000035.4(ALDOB):c.146del (p.Val49fs)
|
rs2118362762
|
|
NM_000035.4(ALDOB):c.157G>T (p.Glu53Ter)
|
|
|
NM_000035.4(ALDOB):c.170G>C (p.Arg57Pro)
|
rs370761101
|
|
NM_000035.4(ALDOB):c.172C>T (p.Gln58Ter)
|
rs1831192129
|
|
NM_000035.4(ALDOB):c.1A>G (p.Met1Val)
|
|
|
NM_000035.4(ALDOB):c.1A>T (p.Met1Leu)
|
|
|
NM_000035.4(ALDOB):c.214C>T (p.Gln72Ter)
|
rs1831191030
|
|
NM_000035.4(ALDOB):c.227G>T (p.Gly76Val)
|
rs764779161
|
|
NM_000035.4(ALDOB):c.227del (p.Gly76fs)
|
|
|
NM_000035.4(ALDOB):c.250del (p.Leu84fs)
|
rs1831190354
|
|
NM_000035.4(ALDOB):c.264C>A (p.Asp88Glu)
|
rs200585150
|
|
NM_000035.4(ALDOB):c.287del (p.Asn96fs)
|
rs1554702890
|
|
NM_000035.4(ALDOB):c.2T>G (p.Met1Arg)
|
|
|
NM_000035.4(ALDOB):c.302del (p.Lys101fs)
|
rs974582114
|
|
NM_000035.4(ALDOB):c.306_317dup (p.Val104_Ile107dup)
|
rs1376128325
|
|
NM_000035.4(ALDOB):c.324+1G>A
|
rs764826805
|
|
NM_000035.4(ALDOB):c.324+2T>A
|
rs1057516379
|
|
NM_000035.4(ALDOB):c.324G>A (p.Lys108=)
|
rs750026492
|
|
NM_000035.4(ALDOB):c.325-1G>A
|
rs1402966846
|
|
NM_000035.4(ALDOB):c.325-1G>C
|
rs1402966846
|
|
NM_000035.4(ALDOB):c.331C>T (p.Gln111Ter)
|
rs528914024
|
|
NM_000035.4(ALDOB):c.345_372del (p.Leu116fs)
|
rs2118358456
|
|
NM_000035.4(ALDOB):c.360_363del (p.Asn120fs)
|
rs387906225
|
|
NM_000035.4(ALDOB):c.379+1G>A
|
rs138121153
|
|
NM_000035.4(ALDOB):c.380-1G>A
|
rs1554702666
|
|
NM_000035.4(ALDOB):c.380-2A>G
|
rs1300461861
|
|
NM_000035.4(ALDOB):c.420del (p.Asp141fs)
|
rs1057517421
|
|
NM_000035.4(ALDOB):c.439A>T (p.Lys147Ter)
|
rs1831150965
|
|
NM_000035.4(ALDOB):c.444G>A (p.Trp148Ter)
|
rs1057516902
|
|
NM_000035.4(ALDOB):c.457_458del (p.Arg153fs)
|
|
|
NM_000035.4(ALDOB):c.469C>T (p.Gln157Ter)
|
rs1831149748
|
|
NM_000035.4(ALDOB):c.474T>A (p.Cys158Ter)
|
rs1179941004
|
|
NM_000035.4(ALDOB):c.522C>G (p.Tyr174Ter)
|
rs752902486
|
|
NM_000035.4(ALDOB):c.532T>C (p.Cys178Arg)
|
rs2118354587
|
|
NM_000035.4(ALDOB):c.540+1G>C
|
rs2118354551
|
|
NM_000035.4(ALDOB):c.541-153_800-175del
|
|
|
NM_000035.4(ALDOB):c.541-277_651del
|
|
|
NM_000035.4(ALDOB):c.541-277_651delinsATGGGTT
|
|
|
NM_000035.4(ALDOB):c.541-2A>G
|
|
|
NM_000035.4(ALDOB):c.546del (p.Leu183fs)
|
rs1057517091
|
|
NM_000035.4(ALDOB):c.554C>G (p.Pro185Arg)
|
rs2118350958
|
|
NM_000035.4(ALDOB):c.606C>A (p.Cys202Ter)
|
|
|
NM_000035.4(ALDOB):c.612T>G (p.Tyr204Ter)
|
rs370793608
|
|
NM_000035.4(ALDOB):c.61C>T (p.Gln21Ter)
|
rs2118366288
|
|
NM_000035.4(ALDOB):c.624+1G>A
|
|
|
NM_000035.4(ALDOB):c.624+1G>C
|
|
|
NM_000035.4(ALDOB):c.625-1G>A
|
rs1564077542
|
|
NM_000035.4(ALDOB):c.625-2A>G
|
rs786204503
|
|
NM_000035.4(ALDOB):c.62del (p.Gln21fs)
|
rs2118366284
|
|
NM_000035.4(ALDOB):c.673del (p.Glu225fs)
|
rs758133069
|
|
NM_000035.4(ALDOB):c.677G>A (p.Gly226Asp)
|
rs2118346537
|
|
NM_000035.4(ALDOB):c.683_688dup (p.Leu229_Lys230insMetLeu)
|
rs1478306331
|
|
NM_000035.4(ALDOB):c.686T>C (p.Leu229Pro)
|
rs1554702433
|
|
NM_000035.4(ALDOB):c.689del (p.Lys230fs)
|
rs2118346335
|
|
NM_000035.4(ALDOB):c.712dup (p.His238fs)
|
rs1554702425
|
|
NM_000035.4(ALDOB):c.720C>A (p.Cys240Ter)
|
rs118204426
|
|
NM_000035.4(ALDOB):c.724A>T (p.Lys242Ter)
|
|
|
NM_000035.4(ALDOB):c.742C>T (p.Gln248Ter)
|
|
|
NM_000035.4(ALDOB):c.761dup (p.Thr255fs)
|
rs2118345550
|
|
NM_000035.4(ALDOB):c.799+1G>A
|
|
|
NM_000035.4(ALDOB):c.799+2T>A
|
rs2118345193
|
|
NM_000035.4(ALDOB):c.799+2T>C
|
|
|
NM_000035.4(ALDOB):c.800-2A>G
|
|
|
NM_000035.4(ALDOB):c.812del (p.Leu271fs)
|
rs1554702353
|
|
NM_000035.4(ALDOB):c.839C>A (p.Ala280Asp)
|
rs1831103567
|
|
NM_000035.4(ALDOB):c.841_842del (p.Thr281fs)
|
rs2118342944
|
|
NM_000035.4(ALDOB):c.851T>C (p.Leu284Pro)
|
rs2118342839
|
|
NM_000035.4(ALDOB):c.865del (p.Leu289fs)
|
rs864309533
|
|
NM_000035.4(ALDOB):c.887G>A (p.Trp296Ter)
|
rs1249398093
|
|
NM_000035.4(ALDOB):c.888G>A (p.Trp296Ter)
|
rs1057517133
|
|
NM_000035.4(ALDOB):c.932T>C (p.Leu311Pro)
|
rs2118342191
|
|
NM_000035.4(ALDOB):c.940dup (p.Trp314fs)
|
rs1554702328
|
|
NM_000035.4(ALDOB):c.941G>A (p.Trp314Ter)
|
rs1554702325
|
|
NM_000035.4(ALDOB):c.954_995del (p.Ala319_Ala332del)
|
rs2118341777
|
|
NM_000035.4(ALDOB):c.964G>T (p.Glu322Ter)
|
rs1172384674
|
|
NM_000035.4:c.-10_624del
|
|
|
NM_000035.4:c.1_624del
|
|
|
NM_000046.4(ARSB):c.313-7412_690+1601del
|
|
|
NM_000046.4:c.(312+1_313-1_690+1_691-1)del
|
|
|
NM_000046.5(ARSB):c.1001G>T (p.Ser334Ile)
|
rs1554079311
|
|
NM_000046.5(ARSB):c.1048A>T (p.Ile350Phe)
|
rs79970603
|
|
NM_000046.5(ARSB):c.1052C>T (p.Ser351Phe)
|
rs756671977
|
|
NM_000046.5(ARSB):c.1060_1061del (p.Leu354fs)
|
|
|
NM_000046.5(ARSB):c.1079T>C (p.Leu360Pro)
|
rs1554079284
|
|
NM_000046.5(ARSB):c.1088del (p.Gly363fs)
|
|
|
NM_000046.5(ARSB):c.108_120del (p.Ser37fs)
|
rs1028653411
|
|
NM_000046.5(ARSB):c.1127T>A (p.Val376Glu)
|
rs1554079268
|
|
NM_000046.5(ARSB):c.1130G>A (p.Trp377Ter)
|
rs1554079265
|
|
NM_000046.5(ARSB):c.1140_1142+2del
|
rs1747980506
|
|
NM_000046.5(ARSB):c.1142+2T>A
|
rs781510986
|
|
NM_000046.5(ARSB):c.1142+581A>G
|
|
|
NM_000046.5(ARSB):c.1143-1G>A
|
|
|
NM_000046.5(ARSB):c.1143-8T>G
|
rs431905496
|
|
NM_000046.5(ARSB):c.114del (p.Ala39fs)
|
rs1554032252
|
|
NM_000046.5(ARSB):c.1161dup (p.Arg388fs)
|
rs1554074135
|
|
NM_000046.5(ARSB):c.1168G>A (p.Glu390Lys)
|
rs1554074132
|
|
NM_000046.5(ARSB):c.1197C>G (p.Phe399Leu)
|
rs200793396
|
|
NM_000046.5(ARSB):c.1213+6T>C
|
rs1554074118
|
|
NM_000046.5(ARSB):c.1214-1G>A
|
|
|
NM_000046.5(ARSB):c.1214-2A>G
|
rs1554069808
|
|
NM_000046.5(ARSB):c.1214-2A>T
|
rs1554069808
|
|
NM_000046.5(ARSB):c.123_139dup (p.Leu47fs)
|
rs766772376
|
|
NM_000046.5(ARSB):c.1279del (p.Thr427fs)
|
rs1554069791
|
|
NM_000046.5(ARSB):c.1286dup (p.His430fs)
|
rs1554069786
|
|
NM_000046.5(ARSB):c.1289A>G (p.His430Arg)
|
rs1171277553
|
|
NM_000046.5(ARSB):c.1299dup (p.Arg434Ter)
|
rs1355071930
|
|
NM_000046.5(ARSB):c.1314G>A (p.Trp438Ter)
|
|
|
NM_000046.5(ARSB):c.1325C>T (p.Thr442Met)
|
rs1057520739
|
|
NM_000046.5(ARSB):c.1337-1G>C
|
|
|
NM_000046.5(ARSB):c.1381G>T (p.Glu461Ter)
|
rs2112617391
|
|
NM_000046.5(ARSB):c.1391C>A (p.Ser464Ter)
|
rs769996056
|
|
NM_000046.5(ARSB):c.1394C>G (p.Ser465Ter)
|
rs1209412483
|
|
NM_000046.5(ARSB):c.1415T>C (p.Leu472Pro)
|
rs1211360114
|
|
NM_000046.5(ARSB):c.1438dup (p.Asp480fs)
|
rs1167459660
|
|
NM_000046.5(ARSB):c.1442C>T (p.Pro481Leu)
|
rs906245021
|
|
NM_000046.5(ARSB):c.1451G>C (p.Arg484Thr)
|
|
|
NM_000046.5(ARSB):c.1458C>A (p.Asp486Glu)
|
|
|
NM_000046.5(ARSB):c.1475del (p.Pro492fs)
|
rs1554069669
|
|
NM_000046.5(ARSB):c.1482del (p.Ile494fs)
|
rs1554069668
|
|
NM_000046.5(ARSB):c.1493T>C (p.Leu498Pro)
|
rs774358117
|
|
NM_000046.5(ARSB):c.149T>A (p.Leu50Ter)
|
rs1554032222
|
|
NM_000046.5(ARSB):c.1507C>T (p.Gln503Ter)
|
rs771113472
|
|
NM_000046.5(ARSB):c.1539C>G (p.Tyr513Ter)
|
rs1251438062
|
|
NM_000046.5(ARSB):c.1558dup (p.Arg520fs)
|
|
|
NM_000046.5(ARSB):c.157G>A (p.Asp53Asn)
|
rs1554032217
|
|
NM_000046.5(ARSB):c.158A>G (p.Asp53Gly)
|
rs2112582627
|
|
NM_000046.5(ARSB):c.1601A>C (p.Ter534Ser)
|
rs1554069655
|
|
NM_000046.5(ARSB):c.1601A>G (p.Ter534Trp)
|
rs1554069655
|
|
NM_000046.5(ARSB):c.160G>A (p.Asp54Asn)
|
rs1554032216
|
|
NM_000046.5(ARSB):c.161A>C (p.Asp54Ala)
|
rs1378501017
|
|
NM_000046.5(ARSB):c.166G>A (p.Gly56Ser)
|
|
|
NM_000046.5(ARSB):c.166G>C (p.Gly56Arg)
|
|
|
NM_000046.5(ARSB):c.173del (p.Asn58fs)
|
rs1180759765
|
|
NM_000046.5(ARSB):c.176A>T (p.Asp59Val)
|
rs1179935748
|
|
NM_000046.5(ARSB):c.191del (p.Gly64fs)
|
|
|
NM_000046.5(ARSB):c.206C>T (p.Thr69Met)
|
rs1554032175
|
|
NM_000046.5(ARSB):c.207_213dup (p.Leu72fs)
|
rs1554032160
|
|
NM_000046.5(ARSB):c.219del (p.Asp73fs)
|
rs1554032153
|
|
NM_000046.5(ARSB):c.223_232del (p.Leu75fs)
|
rs1554032145
|
|
NM_000046.5(ARSB):c.237_243del (p.Val80fs)
|
rs1554032134
|
|
NM_000046.5(ARSB):c.244C>G (p.Leu82Val)
|
|
|
NM_000046.5(ARSB):c.245T>C (p.Leu82Pro)
|
|
|
NM_000046.5(ARSB):c.245T>G (p.Leu82Arg)
|
rs749465732
|
|
NM_000046.5(ARSB):c.247_248del (p.Asp83fs)
|
rs1554032131
|
|
NM_000046.5(ARSB):c.253T>C (p.Tyr85His)
|
rs1554032129
|
|
NM_000046.5(ARSB):c.253TAC[1] (p.Tyr86del)
|
rs969231209
|
|
NM_000046.5(ARSB):c.263dup (p.Pro89fs)
|
rs1554032118
|
|
NM_000046.5(ARSB):c.281C>A (p.Ser94Ter)
|
rs1554032099
|
|
NM_000046.5(ARSB):c.283C>T (p.Arg95Trp)
|
rs1201268402
|
|
NM_000046.5(ARSB):c.284G>T (p.Arg95Leu)
|
rs118203942
|
|
NM_000046.5(ARSB):c.289C>T (p.Gln97Ter)
|
rs1554032094
|
|
NM_000046.5(ARSB):c.290A>G (p.Gln97Arg)
|
rs886039914
|
|
NM_000046.5(ARSB):c.293T>A (p.Leu98Gln)
|
rs1554032090
|
|
NM_000046.5(ARSB):c.293T>G (p.Leu98Arg)
|
rs1554032090
|
|
NM_000046.5(ARSB):c.300_312+18del
|
rs2112580593
|
|
NM_000046.5(ARSB):c.304C>A (p.Arg102Ser)
|
|
|
NM_000046.5(ARSB):c.312+2T>G
|
|
|
NM_000046.5(ARSB):c.323G>A (p.Gly108Asp)
|
|
|
NM_000046.5(ARSB):c.323G>T (p.Gly108Val)
|
rs768802200
|
|
NM_000046.5(ARSB):c.345G>A (p.Trp115Ter)
|
rs2112530498
|
|
NM_000046.5(ARSB):c.350G>A (p.Cys117Tyr)
|
|
|
NM_000046.5(ARSB):c.375dup (p.Glu126Ter)
|
rs1554088081
|
|
NM_000046.5(ARSB):c.395T>C (p.Leu132Pro)
|
rs1554088079
|
|
NM_000046.5(ARSB):c.409G>A (p.Gly137Ser)
|
rs2112530008
|
|
NM_000046.5(ARSB):c.438G>A (p.Trp146Ter)
|
rs757061042
|
|
NM_000046.5(ARSB):c.441C>G (p.His147Gln)
|
rs1752333074
|
|
NM_000046.5(ARSB):c.478C>G (p.Arg160Gly)
|
|
|
NM_000046.5(ARSB):c.479G>A (p.Arg160Gln)
|
rs1196325597
|
|
NM_000046.5(ARSB):c.499+2T>A
|
|
|
NM_000046.5(ARSB):c.509T>G (p.Leu170Arg)
|
rs1484763838
|
|
NM_000046.5(ARSB):c.511G>A (p.Gly171Ser)
|
rs1554087445
|
|
NM_000046.5(ARSB):c.532C>G (p.His178Asp)
|
rs1554087441
|
|
NM_000046.5(ARSB):c.533A>T (p.His178Leu)
|
rs1554087439
|
|
NM_000046.5(ARSB):c.534T>G (p.His178Gln)
|
|
|
NM_000046.5(ARSB):c.574T>C (p.Cys192Arg)
|
rs1554087423
|
|
NM_000046.5(ARSB):c.630_636del (p.Met209_Tyr210insTer)
|
rs1554087406
|
|
NM_000046.5(ARSB):c.659_660del (p.Ile220fs)
|
rs1554087395
|
|
NM_000046.5(ARSB):c.659del (p.Ile220fs)
|
|
|
NM_000046.5(ARSB):c.690+2T>C
|
|
|
NM_000046.5(ARSB):c.690+2T>G
|
|
|
NM_000046.5(ARSB):c.694_695del (p.Leu232fs)
|
|
|
NM_000046.5(ARSB):c.750_754delinsCCTGAAG (p.Glu250fs)
|
rs1554086417
|
|
NM_000046.5(ARSB):c.750_754delinsCCTGAAGTCAAG (p.Glu250fs)
|
rs1554086417
|
|
NM_000046.5(ARSB):c.765T>A (p.Tyr255Ter)
|
rs1554086414
|
|
NM_000046.5(ARSB):c.785dup (p.Asn262fs)
|
rs749015246
|
|
NM_000046.5(ARSB):c.789del (p.Arg263fs)
|
|
|
NM_000046.5(ARSB):c.797A>G (p.Tyr266Cys)
|
|
|
NM_000046.5(ARSB):c.883_884dup (p.Ile296fs)
|
rs1554086370
|
|
NM_000046.5(ARSB):c.887T>A (p.Ile296Asn)
|
rs1554086368
|
|
NM_000046.5(ARSB):c.898+1G>A
|
rs1751669303
|
|
NM_000046.5(ARSB):c.898+1G>T
|
|
|
NM_000046.5(ARSB):c.903C>G (p.Asn301Lys)
|
rs147495977
|
|
NM_000046.5(ARSB):c.904G>A (p.Gly302Arg)
|
rs779378413
|
|
NM_000046.5(ARSB):c.905G>A (p.Gly302Glu)
|
|
|
NM_000046.5(ARSB):c.908G>A (p.Gly303Glu)
|
rs1408739927
|
|
NM_000046.5(ARSB):c.928A>G (p.Asn310Asp)
|
rs1402584432
|
|
NM_000046.5(ARSB):c.936G>T (p.Trp312Cys)
|
rs759384989
|
|
NM_000046.5(ARSB):c.943C>T (p.Arg315Ter)
|
rs891298440
|
|
NM_000046.5(ARSB):c.944G>C (p.Arg315Pro)
|
rs727503809
|
|
NM_000046.5(ARSB):c.960C>G (p.Ser320Arg)
|
rs762614315
|
|
NM_000046.5(ARSB):c.962T>A (p.Leu321Gln)
|
|
|
NM_000046.5(ARSB):c.982G>A (p.Gly328Arg)
|
|
|
NM_000046.5(ARSB):c.982G>C (p.Gly328Arg)
|
rs748454316
|
|
NM_000046.5(ARSB):c.995T>G (p.Val332Gly)
|
rs1554079312
|
|
NM_000108.5(DLD):c.1016del (p.Val339fs)
|
|
|
NM_000108.5(DLD):c.1036A>T (p.Lys346Ter)
|
|
|
NM_000108.5(DLD):c.1047-1G>A
|
|
|
NM_000108.5(DLD):c.1058T>C (p.Ile353Thr)
|
rs2116271469
|
|
NM_000108.5(DLD):c.105C>G (p.Tyr35Ter)
|
rs747810875
|
|
NM_000108.5(DLD):c.105del (p.Thr34_Tyr35insTer)
|
rs1554396895
|
|
NM_000108.5(DLD):c.1080_1086dup (p.Ala363fs)
|
|
|
NM_000108.5(DLD):c.1105G>T (p.Glu369Ter)
|
rs2032293119
|
|
NM_000108.5(DLD):c.1109_1112dup (p.Ile371fs)
|
|
|
NM_000108.5(DLD):c.1119T>A (p.Cys373Ter)
|
rs2032293586
|
|
NM_000108.5(DLD):c.112C>T (p.Gln38Ter)
|
rs1057516698
|
|
NM_000108.5(DLD):c.118+1G>T
|
rs1554396908
|
|
NM_000108.5(DLD):c.1185dup (p.His396fs)
|
|
|
NM_000108.5(DLD):c.1187_1188del (p.His396fs)
|
|
|
NM_000108.5(DLD):c.119-1G>A
|
rs2116206966
|
|
NM_000108.5(DLD):c.119-1G>T
|
|
|
NM_000108.5(DLD):c.1214C>A (p.Ser405Ter)
|
|
|
NM_000108.5(DLD):c.1214C>G (p.Ser405Ter)
|
|
|
NM_000108.5(DLD):c.1219G>T (p.Glu407Ter)
|
|
|
NM_000108.5(DLD):c.1233dup (p.Glu412fs)
|
|
|
NM_000108.5(DLD):c.1236+1G>T
|
rs1554400483
|
|
NM_000108.5(DLD):c.1318A>T (p.Lys440Ter)
|
|
|
NM_000108.5(DLD):c.1421del (p.Gly474fs)
|
rs1554400699
|
|
NM_000108.5(DLD):c.1429_1432del (p.Cys477fs)
|
rs1554400704
|
|
NM_000108.5(DLD):c.1436A>T (p.Asp479Val)
|
rs397514649
|
|
NM_000108.5(DLD):c.1446_1447del (p.Arg482fs)
|
rs1554400713
|
|
NM_000108.5(DLD):c.1463del (p.Pro488fs)
|
rs1554400720
|
|
NM_000108.5(DLD):c.1483A>G (p.Arg495Gly)
|
rs121964989
|
|
NM_000108.5(DLD):c.1520_1523del (p.Ile507fs)
|
rs777884525
|
|
NM_000108.5(DLD):c.198+1G>A
|
rs1554398193
|
|
NM_000108.5(DLD):c.198+1G>T
|
|
|
NM_000108.5(DLD):c.199-1G>A
|
rs1554398264
|
|
NM_000108.5(DLD):c.19dup (p.Val7fs)
|
|
|
NM_000108.5(DLD):c.223dup (p.Thr75fs)
|
rs1057517214
|
|
NM_000108.5(DLD):c.225_226del (p.Leu76fs)
|
|
|
NM_000108.5(DLD):c.268-1G>A
|
|
|
NM_000108.5(DLD):c.268-2A>G
|
rs1554398461
|
|
NM_000108.5(DLD):c.325A>T (p.Arg109Ter)
|
rs2031930307
|
|
NM_000108.5(DLD):c.337+1G>T
|
|
|
NM_000108.5(DLD):c.338-1G>A
|
|
|
NM_000108.5(DLD):c.338-2A>G
|
|
|
NM_000108.5(DLD):c.338-2_338-1delinsT
|
rs1554398624
|
|
NM_000108.5(DLD):c.345del (p.Val116fs)
|
rs1554398625
|
|
NM_000108.5(DLD):c.383delinsTA (p.Ser128fs)
|
|
|
NM_000108.5(DLD):c.39+1G>A
|
rs111257462
|
|
NM_000108.5(DLD):c.40-2A>G
|
|
|
NM_000108.5(DLD):c.439-1G>C
|
|
|
NM_000108.5(DLD):c.439-2A>G
|
|
|
NM_000108.5(DLD):c.491_492insGTATAAGAGACAG (p.Thr165fs)
|
|
|
NM_000108.5(DLD):c.582+2T>C
|
|
|
NM_000108.5(DLD):c.583-1G>C
|
rs2032004082
|
|
NM_000108.5(DLD):c.632_633del (p.Lys211fs)
|
|
|
NM_000108.5(DLD):c.633dup (p.Val212fs)
|
rs1040811473
|
|
NM_000108.5(DLD):c.737del (p.Gly246fs)
|
|
|
NM_000108.5(DLD):c.748G>T (p.Gly250Ter)
|
rs2032247686
|
|
NM_000108.5(DLD):c.801del (p.Lys267fs)
|
|
|
NM_000108.5(DLD):c.802C>T (p.Gln268Ter)
|
rs2032249629
|
|
NM_000108.5(DLD):c.821dup (p.Leu274fs)
|
rs751883130
|
|
NM_000108.5(DLD):c.829A>T (p.Lys277Ter)
|
|
|
NM_000108.5(DLD):c.82del (p.Ser28fs)
|
rs764704217
|
|
NM_000108.5(DLD):c.82dup (p.Ser28fs)
|
|
|
NM_000108.5(DLD):c.856_857del (p.Asp286fs)
|
|
|
NM_000108.5(DLD):c.865dup (p.Ile289fs)
|
rs1554400179
|
|
NM_000108.5(DLD):c.875+1G>T
|
rs1328820332
|
|
NM_000108.5(DLD):c.898A>T (p.Lys300Ter)
|
|
|
NM_000108.5(DLD):c.904G>T (p.Glu302Ter)
|
rs2032281944
|
|
NM_000108.5(DLD):c.936C>A (p.Cys312Ter)
|
rs2032282970
|
|
NM_000108.5(DLD):c.943C>T (p.Arg315Ter)
|
|
|
NM_000116.5(TAFAZZIN):c.532T>A (p.Phe178Ile)
|
|
|
NM_000147.5(FUCA1):c.1000A>T (p.Asn334Tyr)
|
|
|
NM_000147.5(FUCA1):c.1261-1G>A
|
|
|
NM_000147.5(FUCA1):c.1289_1301del (p.Leu430fs)
|
|
|
NM_000147.5(FUCA1):c.151_160del (p.Ala51fs)
|
rs1570692560
|
|
NM_000147.5(FUCA1):c.203C>T (p.Ser68Leu)
|
|
|
NM_000147.5(FUCA1):c.215G>A (p.Trp72Ter)
|
rs1639662981
|
|
NM_000147.5(FUCA1):c.216G>A (p.Trp72Ter)
|
|
|
NM_000147.5(FUCA1):c.422G>T (p.Gly141Val)
|
rs753232669
|
|
NM_000147.5(FUCA1):c.579T>A (p.Tyr193Ter)
|
|
|
NM_000147.5(FUCA1):c.662_662+8del
|
rs766794815
|
|
NM_000147.5(FUCA1):c.691G>A (p.Gly231Arg)
|
rs1639470403
|
|
NM_000147.5(FUCA1):c.768+1G>A
|
rs1639468949
|
|
NM_000147.5(FUCA1):c.768+1G>T
|
|
|
NM_000147.5(FUCA1):c.769-2A>C
|
|
|
NM_000147.5(FUCA1):c.7del (p.Ala3fs)
|
rs1639669672
|
|
NM_000147.5(FUCA1):c.952G>T (p.Glu318Ter)
|
rs201499886
|
|
NM_000151.4(G6PC1):c.1007C>A (p.Ala336Glu)
|
rs2056095097
|
|
NM_000151.4(G6PC1):c.1012G>T (p.Val338Phe)
|
rs367727229
|
|
NM_000151.4(G6PC1):c.1051C>T (p.Gln351Ter)
|
rs766448695
|
|
NM_000151.4(G6PC1):c.136del (p.Leu46fs)
|
rs1057517227
|
|
NM_000151.4(G6PC1):c.14T>A (p.Met5Lys)
|
|
|
NM_000151.4(G6PC1):c.150_151del (p.Trp50fs)
|
rs1057516674
|
|
NM_000151.4(G6PC1):c.15G>A (p.Met5Ile)
|
|
|
NM_000151.4(G6PC1):c.15G>C (p.Met5Ile)
|
|
|
NM_000151.4(G6PC1):c.15G>T (p.Met5Ile)
|
|
|
NM_000151.4(G6PC1):c.202G>A (p.Gly68Arg)
|
rs1567702819
|
|
NM_000151.4(G6PC1):c.211del (p.Leu71fs)
|
|
|
NM_000151.4(G6PC1):c.230+1G>C
|
rs863224023
|
|
NM_000151.4(G6PC1):c.239T>C (p.Phe80Ser)
|
|
|
NM_000151.4(G6PC1):c.241G>A (p.Gly81Arg)
|
rs756632286
|
|
NM_000151.4(G6PC1):c.247C>A (p.Arg83Ser)
|
|
|
NM_000151.4(G6PC1):c.258G>A (p.Trp86Ter)
|
rs142917638
|
|
NM_000151.4(G6PC1):c.278del (p.Tyr93fs)
|
|
|
NM_000151.4(G6PC1):c.305T>A (p.Ile102Lys)
|
|
|
NM_000151.4(G6PC1):c.362T>C (p.Met121Thr)
|
|
|
NM_000151.4(G6PC1):c.365G>T (p.Gly122Val)
|
rs759982943
|
|
NM_000151.4(G6PC1):c.381C>A (p.Tyr127Ter)
|
rs1555559741
|
|
NM_000151.4(G6PC1):c.446+1G>C
|
rs1597989983
|
|
NM_000151.4(G6PC1):c.446+2T>C
|
rs1597989985
|
|
NM_000151.4(G6PC1):c.447-1G>C
|
|
|
NM_000151.4(G6PC1):c.467G>T (p.Trp156Leu)
|
rs1189630738
|
|
NM_000151.4(G6PC1):c.479G>A (p.Trp160Ter)
|
rs2056081522
|
|
NM_000151.4(G6PC1):c.497T>C (p.Val166Ala)
|
rs104894571
|
|
NM_000151.4(G6PC1):c.499dup (p.Cys167fs)
|
rs1057516630
|
|
NM_000151.4(G6PC1):c.506C>G (p.Ser169Ter)
|
rs2056081719
|
|
NM_000151.4(G6PC1):c.511del (p.Ile171fs)
|
rs1597990895
|
|
NM_000151.4(G6PC1):c.516C>A (p.Tyr172Ter)
|
rs1555559991
|
|
NM_000151.4(G6PC1):c.526C>T (p.His176Tyr)
|
rs1597990906
|
|
NM_000151.4(G6PC1):c.52_67dup (p.Tyr23fs)
|
rs1555558920
|
|
NM_000151.4(G6PC1):c.538C>T (p.Gln180Ter)
|
rs1597990921
|
|
NM_000151.4(G6PC1):c.560C>G (p.Ser187Ter)
|
rs1485038937
|
|
NM_000151.4(G6PC1):c.562G>A (p.Gly188Ser)
|
rs80356482
|
|
NM_000151.4(G6PC1):c.563-3C>G
|
rs1597991608
|
|
NM_000151.4(G6PC1):c.59A>G (p.Gln20Arg)
|
rs2056021410
|
|
NM_000151.4(G6PC1):c.61del (p.Gln20_Val21insTer)
|
rs2056021430
|
|
NM_000151.4(G6PC1):c.674T>C (p.Leu225Pro)
|
rs1555560128
|
|
NM_000151.4(G6PC1):c.706T>A (p.Trp236Arg)
|
rs2056092151
|
|
NM_000151.4(G6PC1):c.706T>G (p.Trp236Gly)
|
|
|
NM_000151.4(G6PC1):c.707G>A (p.Trp236Ter)
|
rs1457925404
|
|
NM_000151.4(G6PC1):c.731G>A (p.Trp244Ter)
|
rs1555560140
|
|
NM_000151.4(G6PC1):c.764C>A (p.Thr255Asn)
|
|
|
NM_000151.4(G6PC1):c.764C>T (p.Thr255Ile)
|
rs2056092654
|
|
NM_000151.4(G6PC1):c.770C>A (p.Pro257His)
|
rs1597991733
|
|
NM_000151.4(G6PC1):c.792C>G (p.Asn264Lys)
|
rs1555560149
|
|
NM_000151.4(G6PC1):c.79C>T (p.Gln27Ter)
|
rs1057516367
|
|
NM_000151.4(G6PC1):c.809G>A (p.Gly270Asp)
|
|
|
NM_000151.4(G6PC1):c.820G>A (p.Ala274Thr)
|
rs764084156
|
|
NM_000151.4(G6PC1):c.858del (p.Lys287fs)
|
rs1057516858
|
|
NM_000151.4(G6PC1):c.952_953insGT (p.Val318fs)
|
rs1555560185
|
|
NM_000151.4(G6PC1):c.964T>C (p.Phe322Leu)
|
|
|
NM_000151.4(G6PC1):c.966C>A (p.Phe322Leu)
|
|
|
NM_000151.4(G6PC1):c.969C>A (p.Tyr323Ter)
|
rs780226142
|
|
NM_000151.4(G6PC1):c.980_982del (p.Phe327del)
|
rs80356486
|
|
NM_000152.5(GAA):c.-32-17_-32-10delinsTCCCTGCTGAGCCTCCTACAGGCCTCCCGC
|
|
|
NM_000152.5(GAA):c.-32-1G>C
|
rs1555598460
|
|
NM_000152.5(GAA):c.-32-2A>G
|
rs1445232530
|
|
NM_000152.5(GAA):c.-32-3C>A
|
rs1055945806
|
|
NM_000152.5(GAA):c.1001G>A (p.Gly334Asp)
|
rs2039143109
|
|
NM_000152.5(GAA):c.1003G>A (p.Gly335Arg)
|
rs202095215
|
|
NM_000152.5(GAA):c.1003G>T (p.Gly335Trp)
|
rs202095215
|
|
NM_000152.5(GAA):c.1020C>G (p.Tyr340Ter)
|
|
|
NM_000152.5(GAA):c.1030_1031del (p.Gly344fs)
|
rs1567829962
|
|
NM_000152.5(GAA):c.1051del (p.Val351fs)
|
rs786204507
|
|
NM_000152.5(GAA):c.1062C>A (p.Tyr354Ter)
|
rs1064796703
|
|
NM_000152.5(GAA):c.1075+1G>T
|
|
|
NM_000152.5(GAA):c.1075+2T>A
|
rs2143853890
|
|
NM_000152.5(GAA):c.1075+2T>C
|
|
|
NM_000152.5(GAA):c.1076-1G>A
|
rs1555600050
|
|
NM_000152.5(GAA):c.1076-2A>G
|
rs1057516290
|
|
NM_000152.5(GAA):c.1082C>G (p.Pro361Arg)
|
rs755253527
|
|
NM_000152.5(GAA):c.1099T>C (p.Trp367Arg)
|
rs1555600061
|
|
NM_000152.5(GAA):c.1099del (p.Trp367fs)
|
rs1057516785
|
|
NM_000152.5(GAA):c.1103G>A (p.Gly368Asp)
|
rs368244038
|
|
NM_000152.5(GAA):c.1106T>A (p.Leu369Gln)
|
|
|
NM_000152.5(GAA):c.1114C>T (p.His372Tyr)
|
rs1555600070
|
|
NM_000152.5(GAA):c.1115A>T (p.His372Leu)
|
rs1057516520
|
|
NM_000152.5(GAA):c.1117del (p.Leu373fs)
|
|
|
NM_000152.5(GAA):c.1123C>A (p.Arg375Ser)
|
|
|
NM_000152.5(GAA):c.1124G>T (p.Arg375Leu)
|
rs142752477
|
|
NM_000152.5(GAA):c.1128_1129delinsC (p.Trp376fs)
|
rs786204646
|
|
NM_000152.5(GAA):c.1130del (p.Gly377fs)
|
rs754134578
|
|
NM_000152.5(GAA):c.1143del (p.Ala382fs)
|
rs757458607
|
|
NM_000152.5(GAA):c.1156C>T (p.Gln386Ter)
|
rs786204517
|
|
NM_000152.5(GAA):c.1165del (p.Glu389fs)
|
rs1555600111
|
|
NM_000152.5(GAA):c.1190C>T (p.Pro397Leu)
|
rs776008078
|
|
NM_000152.5(GAA):c.1192dup (p.Leu398fs)
|
rs1057516546
|
|
NM_000152.5(GAA):c.1193del (p.Leu398fs)
|
rs1057517286
|
|
NM_000152.5(GAA):c.1194+2T>C
|
rs1057516215
|
|
NM_000152.5(GAA):c.1194+2T>G
|
|
|
NM_000152.5(GAA):c.1194+5G>A
|
rs2039153749
|
|
NM_000152.5(GAA):c.1195-1G>A
|
rs1555600166
|
|
NM_000152.5(GAA):c.1195-2A>C
|
rs765360653
|
|
NM_000152.5(GAA):c.1195-2A>G
|
rs765360653
|
|
NM_000152.5(GAA):c.1205G>A (p.Trp402Ter)
|
|
|
NM_000152.5(GAA):c.1214T>C (p.Leu405Pro)
|
rs2143857207
|
|
NM_000152.5(GAA):c.1216G>A (p.Asp406Asn)
|
rs1555600179
|
|
NM_000152.5(GAA):c.1220A>G (p.Tyr407Cys)
|
|
|
NM_000152.5(GAA):c.1223T>C (p.Met408Thr)
|
|
|
NM_000152.5(GAA):c.1243_1244del (p.Thr415fs)
|
|
|
NM_000152.5(GAA):c.1309C>A (p.Arg437Ser)
|
|
|
NM_000152.5(GAA):c.1317GAT[1] (p.Met440del)
|
rs1555600235
|
|
NM_000152.5(GAA):c.1326+2T>C
|
rs1434761678
|
|
NM_000152.5(GAA):c.133del (p.Ser45fs)
|
|
|
NM_000152.5(GAA):c.1369C>T (p.Pro457Ser)
|
|
|
NM_000152.5(GAA):c.1376A>T (p.Asp459Val)
|
rs2143866303
|
|
NM_000152.5(GAA):c.1377dup (p.Glu460fs)
|
rs2039192386
|
|
NM_000152.5(GAA):c.1396G>T (p.Val466Phe)
|
|
|
NM_000152.5(GAA):c.1400T>C (p.Phe467Ser)
|
|
|
NM_000152.5(GAA):c.1407del (p.Asn470fs)
|
|
|
NM_000152.5(GAA):c.1408_1410del (p.Asn470del)
|
rs748893499
|
|
NM_000152.5(GAA):c.1432G>A (p.Gly478Arg)
|
rs778068209
|
|
NM_000152.5(GAA):c.1437+1G>A
|
rs1555600575
|
|
NM_000152.5(GAA):c.1437G>A (p.Lys479=)
|
rs796051877
|
|
NM_000152.5(GAA):c.1438-1G>A
|
|
|
NM_000152.5(GAA):c.1438-1G>C
|
rs147804176
|
|
NM_000152.5(GAA):c.1438-1G>T
|
rs147804176
|
|
NM_000152.5(GAA):c.1438-2A>G
|
rs1555600730
|
|
NM_000152.5(GAA):c.1445C>G (p.Pro482Arg)
|
rs2039212985
|
|
NM_000152.5(GAA):c.1445C>T (p.Pro482Leu)
|
rs2039212985
|
|
NM_000152.5(GAA):c.1456G>C (p.Ala486Pro)
|
|
|
NM_000152.5(GAA):c.1456G>T (p.Ala486Ser)
|
|
|
NM_000152.5(GAA):c.1463C>T (p.Pro488Leu)
|
rs2143872219
|
|
NM_000152.5(GAA):c.1465G>A (p.Asp489Asn)
|
rs398123169
|
|
NM_000152.5(GAA):c.1466A>G (p.Asp489Gly)
|
|
|
NM_000152.5(GAA):c.1477C>T (p.Pro493Ser)
|
|
|
NM_000152.5(GAA):c.1494del (p.Trp498fs)
|
|
|
NM_000152.5(GAA):c.1496G>A (p.Trp499Ter)
|
rs766680292
|
|
NM_000152.5(GAA):c.1525C>T (p.Gln509Ter)
|
|
|
NM_000152.5(GAA):c.1538A>G (p.Asp513Gly)
|
rs1598581682
|
|
NM_000152.5(GAA):c.1547G>A (p.Trp516Ter)
|
rs2039217093
|
|
NM_000152.5(GAA):c.1551+1G>C
|
rs770780848
|
|
NM_000152.5(GAA):c.1552-2A>G
|
rs1555600846
|
|
NM_000152.5(GAA):c.1555A>G (p.Met519Val)
|
rs1598581919
|
|
NM_000152.5(GAA):c.1564C>A (p.Pro522Thr)
|
rs892129065
|
|
NM_000152.5(GAA):c.1564C>G (p.Pro522Ala)
|
rs892129065
|
|
NM_000152.5(GAA):c.1565C>T (p.Pro522Leu)
|
rs2143874287
|
|
NM_000152.5(GAA):c.1567del (p.Ser523fs)
|
rs1057517267
|
|
NM_000152.5(GAA):c.1575_1576del (p.Ile526fs)
|
|
|
NM_000152.5(GAA):c.1579_1580del (p.Arg527fs)
|
rs1291214871
|
|
NM_000152.5(GAA):c.1583G>C (p.Gly528Ala)
|
rs794727016
|
|
NM_000152.5(GAA):c.1583G>T (p.Gly528Val)
|
|
|
NM_000152.5(GAA):c.1602_1605delinsAGG (p.Asn535fs)
|
rs2143874754
|
|
NM_000152.5(GAA):c.1633C>T (p.Pro545Ser)
|
rs2143875175
|
|
NM_000152.5(GAA):c.1636+1G>A
|
|
|
NM_000152.5(GAA):c.1646G>A (p.Gly549Glu)
|
|
|
NM_000152.5(GAA):c.1650dup (p.Thr551fs)
|
rs766398206
|
|
NM_000152.5(GAA):c.1654C>T (p.Leu552Phe)
|
|
|
NM_000152.5(GAA):c.1663G>C (p.Ala555Pro)
|
|
|
NM_000152.5(GAA):c.1669A>T (p.Ile557Phe)
|
rs747150965
|
|
NM_000152.5(GAA):c.1670T>G (p.Ile557Ser)
|
rs1408164312
|
|
NM_000152.5(GAA):c.1673G>A (p.Cys558Tyr)
|
|
|
NM_000152.5(GAA):c.1687C>T (p.Gln563Ter)
|
rs1057516426
|
|
NM_000152.5(GAA):c.1692del (p.Leu565fs)
|
rs1555601234
|
|
NM_000152.5(GAA):c.1697C>T (p.Ser566Phe)
|
|
|
NM_000152.5(GAA):c.169C>T (p.Gln57Ter)
|
rs1057516251
|
|
NM_000152.5(GAA):c.1709A>G (p.Asn570Ser)
|
|
|
NM_000152.5(GAA):c.1714C>T (p.His572Tyr)
|
|
|
NM_000152.5(GAA):c.1716C>G (p.His572Gln)
|
rs772962666
|
|
NM_000152.5(GAA):c.1721T>C (p.Leu574Pro)
|
|
|
NM_000152.5(GAA):c.1748C>T (p.Ser583Phe)
|
rs2143883845
|
|
NM_000152.5(GAA):c.1754+1_1754+7del
|
rs2039250790
|
|
NM_000152.5(GAA):c.1780C>T (p.Arg594Cys)
|
rs1428112902
|
|
NM_000152.5(GAA):c.1781G>A (p.Arg594His)
|
rs775450536
|
|
NM_000152.5(GAA):c.1781G>C (p.Arg594Pro)
|
rs775450536
|
|
NM_000152.5(GAA):c.1798C>G (p.Arg600Gly)
|
rs764670084
|
|
NM_000152.5(GAA):c.1798del (p.Arg600fs)
|
|
|
NM_000152.5(GAA):c.1799G>T (p.Arg600Leu)
|
|
|
NM_000152.5(GAA):c.1802C>G (p.Ser601Trp)
|
rs374470794
|
|
NM_000152.5(GAA):c.1804A>G (p.Thr602Ala)
|
rs781484283
|
|
NM_000152.5(GAA):c.1814del (p.Gly605fs)
|
|
|
NM_000152.5(GAA):c.1819G>T (p.Gly607Cys)
|
|
|
NM_000152.5(GAA):c.1824_1828dup (p.Ala610fs)
|
rs1057516826
|
|
NM_000152.5(GAA):c.1832G>A (p.Gly611Asp)
|
rs1057517105
|
|
NM_000152.5(GAA):c.1836C>G (p.His612Gln)
|
rs768397968
|
|
NM_000152.5(GAA):c.1841C>A (p.Thr614Lys)
|
rs369531647
|
|
NM_000152.5(GAA):c.1841C>T (p.Thr614Met)
|
rs369531647
|
|
NM_000152.5(GAA):c.1844G>A (p.Gly615Glu)
|
rs1243515778
|
|
NM_000152.5(GAA):c.1846G>T (p.Asp616Tyr)
|
|
|
NM_000152.5(GAA):c.1847dup (p.Asp616fs)
|
rs1475559733
|
|
NM_000152.5(GAA):c.1848C>A (p.Asp616Glu)
|
|
|
NM_000152.5(GAA):c.1855A>G (p.Ser619Gly)
|
|
|
NM_000152.5(GAA):c.1857C>G (p.Ser619Arg)
|
rs914396317
|
|
NM_000152.5(GAA):c.1861T>C (p.Trp621Arg)
|
rs1327361418
|
|
NM_000152.5(GAA):c.1874_1882del (p.Ala625_Ser627del)
|
|
|
NM_000152.5(GAA):c.1880C>T (p.Ser627Phe)
|
rs1024137874
|
|
NM_000152.5(GAA):c.1888+1G>A
|
rs776325453
|
|
NM_000152.5(GAA):c.1903A>G (p.Asn635Asp)
|
rs2143891559
|
|
NM_000152.5(GAA):c.1905C>A (p.Asn635Lys)
|
rs1414146587
|
|
NM_000152.5(GAA):c.1924G>T (p.Val642Phe)
|
|
|
NM_000152.5(GAA):c.1927G>T (p.Gly643Trp)
|
rs28937909
|
|
NM_000152.5(GAA):c.1928G>C (p.Gly643Ala)
|
|
|
NM_000152.5(GAA):c.1930_1936dup (p.Val646fs)
|
rs748829376
|
|
NM_000152.5(GAA):c.1933G>A (p.Asp645Asn)
|
rs368438393
|
|
NM_000152.5(GAA):c.1933G>C (p.Asp645His)
|
rs368438393
|
|
NM_000152.5(GAA):c.1933G>T (p.Asp645Tyr)
|
rs368438393
|
|
NM_000152.5(GAA):c.1940G>A (p.Cys647Tyr)
|
|
|
NM_000152.5(GAA):c.1940G>T (p.Cys647Phe)
|
rs1265892085
|
|
NM_000152.5(GAA):c.1941C>A (p.Cys647Ter)
|
rs776948121
|
|
NM_000152.5(GAA):c.1942G>T (p.Gly648Cys)
|
|
|
NM_000152.5(GAA):c.1943G>T (p.Gly648Val)
|
rs1448515860
|
|
NM_000152.5(GAA):c.1951_1952delinsT (p.Gly651fs)
|
rs1567835781
|
|
NM_000152.5(GAA):c.1952del (p.Gly651fs)
|
rs1567835775
|
|
NM_000152.5(GAA):c.1961C>A (p.Ser654Ter)
|
rs1057518106
|
|
NM_000152.5(GAA):c.1966del (p.Glu656fs)
|
|
|
NM_000152.5(GAA):c.1978C>G (p.Arg660Gly)
|
|
|
NM_000152.5(GAA):c.1978C>T (p.Arg660Cys)
|
rs759518659
|
|
NM_000152.5(GAA):c.1A>G (p.Met1Val)
|
rs786204467
|
|
NM_000152.5(GAA):c.1A>T (p.Met1Leu)
|
rs786204467
|
|
NM_000152.5(GAA):c.2003A>G (p.Tyr668Cys)
|
rs1555601633
|
|
NM_000152.5(GAA):c.2003_2013dup (p.Arg672fs)
|
|
|
NM_000152.5(GAA):c.2014C>G (p.Arg672Gly)
|
|
|
NM_000152.5(GAA):c.2021ACA[1] (p.Asn675del)
|
rs786204621
|
|
NM_000152.5(GAA):c.2040+1del
|
rs1555601662
|
|
NM_000152.5(GAA):c.2040+2T>G
|
|
|
NM_000152.5(GAA):c.2040G>A (p.Leu680=)
|
rs2039280842
|
|
NM_000152.5(GAA):c.2041-1G>A
|
rs760731229
|
|
NM_000152.5(GAA):c.2061del (p.Phe687fs)
|
rs1064796706
|
|
NM_000152.5(GAA):c.2082del (p.Ala694_Met695insTer)
|
rs2039287852
|
|
NM_000152.5(GAA):c.2088del (p.Lys697fs)
|
|
|
NM_000152.5(GAA):c.2095dup (p.Leu699fs)
|
rs2143895928
|
|
NM_000152.5(GAA):c.2105G>C (p.Arg702Pro)
|
rs398123172
|
|
NM_000152.5(GAA):c.2122del (p.His708fs)
|
|
|
NM_000152.5(GAA):c.2122dup (p.His708fs)
|
|
|
NM_000152.5(GAA):c.2130C>A (p.Tyr710Ter)
|
rs2039289942
|
|
NM_000152.5(GAA):c.2131A>C (p.Thr711Pro)
|
rs2143896492
|
|
NM_000152.5(GAA):c.2131A>G (p.Thr711Ala)
|
rs2143896492
|
|
NM_000152.5(GAA):c.2131A>T (p.Thr711Ser)
|
|
|
NM_000152.5(GAA):c.2132_2133delinsGG (p.Thr711Arg)
|
rs1555601773
|
|
NM_000152.5(GAA):c.2136_2137del (p.Phe713fs)
|
rs1555601780
|
|
NM_000152.5(GAA):c.2140del (p.His714fs)
|
rs786204549
|
|
NM_000152.5(GAA):c.2143C>T (p.Gln715Ter)
|
rs1275298143
|
|
NM_000152.5(GAA):c.2161dup (p.Glu721fs)
|
rs1555601802
|
|
NM_000152.5(GAA):c.2167G>A (p.Val723Met)
|
rs767247397
|
|
NM_000152.5(GAA):c.2174G>T (p.Arg725Leu)
|
|
|
NM_000152.5(GAA):c.2185del (p.Leu729fs)
|
rs1057516581
|
|
NM_000152.5(GAA):c.2189+2T>A
|
|
|
NM_000152.5(GAA):c.2210C>A (p.Thr737Asn)
|
rs1381005435
|
|
NM_000152.5(GAA):c.2213G>A (p.Trp738Ter)
|
rs1057516327
|
|
NM_000152.5(GAA):c.2214G>A (p.Trp738Ter)
|
rs1057516328
|
|
NM_000152.5(GAA):c.2227C>T (p.Gln743Ter)
|
rs1057516277
|
|
NM_000152.5(GAA):c.2228A>G (p.Gln743Arg)
|
rs1567838823
|
|
NM_000152.5(GAA):c.2236T>C (p.Trp746Arg)
|
rs1479740763
|
|
NM_000152.5(GAA):c.2237G>C (p.Trp746Ser)
|
rs752921215
|
|
NM_000152.5(GAA):c.2237G>T (p.Trp746Leu)
|
rs752921215
|
|
NM_000152.5(GAA):c.2238G>A (p.Trp746Ter)
|
rs1800312
|
|
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys)
|
rs1800312
|
|
NM_000152.5(GAA):c.2242G>T (p.Glu748Ter)
|
rs1057516363
|
|
NM_000152.5(GAA):c.2242del (p.Glu748fs)
|
rs777275355
|
|
NM_000152.5(GAA):c.2242dup (p.Glu748fs)
|
rs777275355
|
|
NM_000152.5(GAA):c.2281delinsAT (p.Ala761fs)
|
rs1057516924
|
|
NM_000152.5(GAA):c.2294G>A (p.Gly765Asp)
|
rs1292367136
|
|
NM_000152.5(GAA):c.2296T>C (p.Tyr766His)
|
|
|
NM_000152.5(GAA):c.2297A>C (p.Tyr766Ser)
|
rs144016984
|
|
NM_000152.5(GAA):c.2300del (p.Phe767fs)
|
rs1555602692
|
|
NM_000152.5(GAA):c.2303C>G (p.Pro768Arg)
|
|
|
NM_000152.5(GAA):c.2303C>T (p.Pro768Leu)
|
|
|
NM_000152.5(GAA):c.2314T>C (p.Trp772Arg)
|
rs1555602703
|
|
NM_000152.5(GAA):c.2319C>A (p.Tyr773Ter)
|
|
|
NM_000152.5(GAA):c.2331+1G>C
|
|
|
NM_000152.5(GAA):c.2331+4A>G
|
|
|
NM_000152.5(GAA):c.2332-1G>A
|
|
|
NM_000152.5(GAA):c.2332-1G>C
|
rs1555602832
|
|
NM_000152.5(GAA):c.2332-2A>G
|
rs112098197
|
|
NM_000152.5(GAA):c.2345_2346insA (p.Leu783fs)
|
|
|
NM_000152.5(GAA):c.2367dup (p.Pro790fs)
|
rs1555602860
|
|
NM_000152.5(GAA):c.2383G>T (p.Glu795Ter)
|
rs886043882
|
|
NM_000152.5(GAA):c.2395del (p.His799fs)
|
|
|
NM_000152.5(GAA):c.2411G>A (p.Trp804Ter)
|
rs2143925134
|
|
NM_000152.5(GAA):c.241C>T (p.Gln81Ter)
|
rs1555598687
|
|
NM_000152.5(GAA):c.2456G>C (p.Arg819Pro)
|
rs374687883
|
|
NM_000152.5(GAA):c.2476del (p.Leu826fs)
|
|
|
NM_000152.5(GAA):c.2481+1G>A
|
|
|
NM_000152.5(GAA):c.2481+1G>T
|
|
|
NM_000152.5(GAA):c.2482-1G>T
|
|
|
NM_000152.5(GAA):c.2495_2496del (p.Thr832fs)
|
rs1057516704
|
|
NM_000152.5(GAA):c.2501_2502del (p.Thr834fs)
|
rs886043343
|
|
NM_000152.5(GAA):c.2544del (p.Lys849fs)
|
rs398123173
|
|
NM_000152.5(GAA):c.2545A>T (p.Lys849Ter)
|
rs2039403673
|
|
NM_000152.5(GAA):c.2563G>C (p.Gly855Arg)
|
|
|
NM_000152.5(GAA):c.258del (p.Asn87fs)
|
rs761317813
|
|
NM_000152.5(GAA):c.2617dup (p.Tyr873fs)
|
rs1555603131
|
|
NM_000152.5(GAA):c.2619C>A (p.Tyr873Ter)
|
rs1555603132
|
|
NM_000152.5(GAA):c.2644_2645insT (p.Asn882fs)
|
|
|
NM_000152.5(GAA):c.2646+2T>A
|
rs786204561
|
|
NM_000152.5(GAA):c.2647-1_2648del
|
rs1555603216
|
|
NM_000152.5(GAA):c.2647-2A>G
|
|
|
NM_000152.5(GAA):c.2655_2656delinsT (p.Ile885_Val886insTer)
|
|
|
NM_000152.5(GAA):c.265C>A (p.Arg89Ser)
|
|
|
NM_000152.5(GAA):c.266G>T (p.Arg89Leu)
|
|
|
NM_000152.5(GAA):c.2672del (p.Arg891fs)
|
|
|
NM_000152.5(GAA):c.2701del (p.Leu901fs)
|
|
|
NM_000152.5(GAA):c.2704C>T (p.Gln902Ter)
|
rs1057516341
|
|
NM_000152.5(GAA):c.2723del (p.Gly908fs)
|
|
|
NM_000152.5(GAA):c.2740C>T (p.Gln914Ter)
|
rs1555603264
|
|
NM_000152.5(GAA):c.276C>A (p.Cys92Ter)
|
rs1232001857
|
|
NM_000152.5(GAA):c.2772del (p.Asn925fs)
|
|
|
NM_000152.5(GAA):c.2782T>C (p.Tyr928His)
|
rs2143934702
|
|
NM_000152.5(GAA):c.2799+2C>A
|
rs1555603318
|
|
NM_000152.5(GAA):c.2799+2C>G
|
|
|
NM_000152.5(GAA):c.2815_2816del (p.Val939fs)
|
rs763359208
|
|
NM_000152.5(GAA):c.2853del (p.Trp951fs)
|
rs1555603434
|
|
NM_000152.5(GAA):c.307T>C (p.Cys103Arg)
|
rs398123174
|
|
NM_000152.5(GAA):c.308G>A (p.Cys103Tyr)
|
rs2143827215
|
|
NM_000152.5(GAA):c.316C>G (p.Arg106Gly)
|
rs915675670
|
|
NM_000152.5(GAA):c.323G>A (p.Cys108Tyr)
|
|
|
NM_000152.5(GAA):c.342del (p.Lys114fs)
|
rs1555598796
|
|
NM_000152.5(GAA):c.343C>T (p.Gln115Ter)
|
rs786204614
|
|
NM_000152.5(GAA):c.352C>T (p.Gln118Ter)
|
rs1555598800
|
|
NM_000152.5(GAA):c.361C>T (p.Gln121Ter)
|
rs750668627
|
|
NM_000152.5(GAA):c.371_381del (p.Gln124fs)
|
|
|
NM_000152.5(GAA):c.376del (p.Trp126fs)
|
rs1555598824
|
|
NM_000152.5(GAA):c.389del (p.Pro130fs)
|
|
|
NM_000152.5(GAA):c.393del (p.Ser132fs)
|
rs1057517381
|
|
NM_000152.5(GAA):c.396dup (p.Tyr133fs)
|
|
|
NM_000152.5(GAA):c.3G>A (p.Met1Ile)
|
rs1187796945
|
|
NM_000152.5(GAA):c.437del (p.Met146fs)
|
rs1555598869
|
|
NM_000152.5(GAA):c.448dup (p.Ala150fs)
|
rs1555598880
|
|
NM_000152.5(GAA):c.461G>C (p.Arg154Pro)
|
rs781124934
|
|
NM_000152.5(GAA):c.461_469del (p.Arg154_Thr156del)
|
rs2039044722
|
|
NM_000152.5(GAA):c.465dup (p.Thr156fs)
|
|
|
NM_000152.5(GAA):c.471del (p.Thr158fs)
|
rs1057517320
|
|
NM_000152.5(GAA):c.490_524del (p.Asp163_Ile164insTer)
|
|
|
NM_000152.5(GAA):c.4G>T (p.Gly2Ter)
|
rs1567825175
|
|
NM_000152.5(GAA):c.511del (p.Asp170_Val171insTer)
|
rs2143829478
|
|
NM_000152.5(GAA):c.525_526del (p.Asn177fs)
|
rs767882689
|
|
NM_000152.5(GAA):c.546+2T>C
|
|
|
NM_000152.5(GAA):c.546+2_546+5del
|
rs1181354869
|
|
NM_000152.5(GAA):c.546+5G>T
|
rs756024023
|
|
NM_000152.5(GAA):c.546G>C (p.Thr182=)
|
rs143523371
|
|
NM_000152.5(GAA):c.546G>T (p.Thr182=)
|
rs143523371
|
|
NM_000152.5(GAA):c.55del (p.Val19fs)
|
rs1555598544
|
|
NM_000152.5(GAA):c.569G>A (p.Arg190His)
|
rs528367092
|
|
NM_000152.5(GAA):c.569G>T (p.Arg190Leu)
|
rs528367092
|
|
NM_000152.5(GAA):c.573C>A (p.Tyr191Ter)
|
rs376229714
|
|
NM_000152.5(GAA):c.596_600delinsGTGT (p.His199fs)
|
|
|
NM_000152.5(GAA):c.656G>A (p.Gly219Glu)
|
|
|
NM_000152.5(GAA):c.671G>C (p.Arg224Pro)
|
rs200210219
|
|
NM_000152.5(GAA):c.671G>T (p.Arg224Leu)
|
|
|
NM_000152.5(GAA):c.692+2T>C
|
rs1555599171
|
|
NM_000152.5(GAA):c.693-1G>C
|
rs2143845687
|
|
NM_000152.5(GAA):c.693-2A>C
|
|
|
NM_000152.5(GAA):c.700A>G (p.Thr234Ala)
|
|
|
NM_000152.5(GAA):c.710C>T (p.Ala237Val)
|
rs121907944
|
|
NM_000152.5(GAA):c.711_712dup (p.Pro238fs)
|
rs1555599586
|
|
NM_000152.5(GAA):c.716del (p.Leu239fs)
|
rs1555599594
|
|
NM_000152.5(GAA):c.732G>C (p.Gln244His)
|
rs1178922366
|
|
NM_000152.5(GAA):c.736del (p.Leu246fs)
|
rs886043920
|
|
NM_000152.5(GAA):c.755dup (p.Pro253fs)
|
rs1555599619
|
|
NM_000152.5(GAA):c.766_767insC (p.Tyr256fs)
|
rs1555599637
|
|
NM_000152.5(GAA):c.766_785delinsC (p.Tyr256fs)
|
rs786204532
|
|
NM_000152.5(GAA):c.768dup (p.Ile257fs)
|
rs1555599644
|
|
NM_000152.5(GAA):c.796C>T (p.Pro266Ser)
|
rs1555599667
|
|
NM_000152.5(GAA):c.797C>T (p.Pro266Leu)
|
rs1567828977
|
|
NM_000152.5(GAA):c.806_830del (p.Leu269fs)
|
rs1598575231
|
|
NM_000152.5(GAA):c.827_845del (p.Ile276fs)
|
rs2143847172
|
|
NM_000152.5(GAA):c.829_830del (p.Thr277fs)
|
|
|
NM_000152.5(GAA):c.836G>A (p.Trp279Ter)
|
rs2039122730
|
|
NM_000152.5(GAA):c.844G>C (p.Asp282His)
|
|
|
NM_000152.5(GAA):c.84dup (p.His29fs)
|
|
|
NM_000152.5(GAA):c.858+1G>A
|
|
|
NM_000152.5(GAA):c.858+2T>A
|
rs1555599713
|
|
NM_000152.5(GAA):c.859-1G>C
|
|
|
NM_000152.5(GAA):c.859-2A>G
|
rs2143848897
|
|
NM_000152.5(GAA):c.873_874del (p.Tyr292fs)
|
|
|
NM_000152.5(GAA):c.874T>C (p.Tyr292His)
|
|
|
NM_000152.5(GAA):c.896T>G (p.Leu299Arg)
|
rs121907940
|
|
NM_000152.5(GAA):c.904G>T (p.Glu302Ter)
|
rs2039131123
|
|
NM_000152.5(GAA):c.917C>A (p.Ser306Ter)
|
rs138097673
|
|
NM_000152.5(GAA):c.922C>G (p.His308Asp)
|
|
|
NM_000152.5(GAA):c.925G>T (p.Gly309Trp)
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NM_000152.5(GAA):c.935del (p.Leu312fs)
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|
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NM_000152.5(GAA):c.953T>A (p.Met318Lys)
|
rs121907936
|
|
NM_000152.5(GAA):c.956-5_957del
|
|
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NM_000152.5(GAA):c.971dup (p.Ser325fs)
|
rs2143852733
|
|
NM_000152.5(GAA):c.989G>A (p.Trp330Ter)
|
rs1555599960
|
|
NM_000152.5(GAA):c.990G>C (p.Trp330Cys)
|
|
|
NM_000154.2(GALK1):c.1017T>A (p.Tyr339Ter)
|
rs1026685248
|
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NM_000154.2(GALK1):c.102_103dup (p.Pro35fs)
|
rs771067891
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|
NM_000154.2(GALK1):c.1083_1096delinsATG (p.Pro362fs)
|
rs2061563475
|
|
NM_000154.2(GALK1):c.1150G>C (p.Ala384Pro)
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|
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NM_000154.2(GALK1):c.130C>T (p.His44Tyr)
|
rs1555748926
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NM_000154.2(GALK1):c.166-5_227dup
|
rs2143605351
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NM_000154.2(GALK1):c.1A>C (p.Met1Leu)
|
rs1311294794
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NM_000154.2(GALK1):c.205A>T (p.Lys69Ter)
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|
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NM_000154.2(GALK1):c.250G>T (p.Glu84Ter)
|
rs761638957
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NM_000154.2(GALK1):c.265C>T (p.Gln89Ter)
|
rs2143605190
|
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NM_000154.2(GALK1):c.286C>T (p.Gln96Ter)
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|
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NM_000154.2(GALK1):c.298G>T (p.Glu100Ter)
|
rs2061599016
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NM_000154.2(GALK1):c.317G>A (p.Trp106Ter)
|
rs2061598873
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NM_000154.2(GALK1):c.331A>T (p.Lys111Ter)
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|
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NM_000154.2(GALK1):c.350del (p.Tyr117fs)
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|
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NM_000154.2(GALK1):c.355+1G>A
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NM_000154.2(GALK1):c.364del (p.Leu122fs)
|
rs2061596711
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NM_000154.2(GALK1):c.403del (p.Leu135fs)
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NM_000154.2(GALK1):c.410G>A (p.Gly137Asp)
|
rs915070690
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NM_000154.2(GALK1):c.410del (p.Gly137fs)
|
rs767329054
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NM_000154.2(GALK1):c.410dup (p.Gly138fs)
|
rs767329054
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NM_000154.2(GALK1):c.425_426delinsT (p.Ser142fs)
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|
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NM_000154.2(GALK1):c.460C>T (p.Gln154Ter)
|
rs2143603585
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NM_000154.2(GALK1):c.475+1G>A
|
|
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NM_000154.2(GALK1):c.476-2A>G
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|
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NM_000154.2(GALK1):c.479C>A (p.Ser160Ter)
|
rs575077063
|
|
NM_000154.2(GALK1):c.514C>T (p.Gln172Ter)
|
rs767799179
|
|
NM_000154.2(GALK1):c.520G>T (p.Glu174Ter)
|
|
|
NM_000154.2(GALK1):c.547_562del (p.Gly183fs)
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|
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NM_000154.2(GALK1):c.573del (p.Met192fs)
|
|
|
NM_000154.2(GALK1):c.580C>T (p.Gln194Ter)
|
|
|
NM_000154.2(GALK1):c.612-1G>A
|
rs1555748556
|
|
NM_000154.2(GALK1):c.612-1G>T
|
|
|
NM_000154.2(GALK1):c.686dup (p.His229fs)
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|
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NM_000154.2(GALK1):c.689_711dup (p.Val238fs)
|
rs1555748534
|
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NM_000154.2(GALK1):c.708C>A (p.Tyr236Ter)
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|
|
NM_000154.2(GALK1):c.738_739insCTTTCCTT (p.Ala247fs)
|
|
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NM_000154.2(GALK1):c.775C>T (p.Gln259Ter)
|
rs1599335132
|
|
NM_000154.2(GALK1):c.784G>T (p.Glu262Ter)
|
rs2061592335
|
|
NM_000154.2(GALK1):c.793+2T>G
|
|
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NM_000154.2(GALK1):c.79G>T (p.Glu27Ter)
|
rs1555748940
|
|
NM_000154.2(GALK1):c.808_809delinsA (p.Val270fs)
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|
|
NM_000154.2(GALK1):c.818_819del (p.Glu273fs)
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|
|
NM_000154.2(GALK1):c.847_860dup (p.Thr288fs)
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|
|
NM_000154.2(GALK1):c.853_874del (p.Ile285fs)
|
rs770087254
|
|
NM_000154.2(GALK1):c.901A>T (p.Arg301Ter)
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|
|
NM_000154.2(GALK1):c.944+1G>T
|
rs113464656
|
|
NM_000154.2(GALK1):c.945-36_992del
|
rs2143586633
|
|
NM_000155.2(GALT):c.-119_-116delGTCA
|
rs111033640
|
|
NM_000155.4(GALT):c.1048del (p.Thr350fs)
|
rs775762045
|
|
NM_000155.4(GALT):c.1049C>A (p.Thr350Asn)
|
rs775317639
|
|
NM_000155.4(GALT):c.1049C>G (p.Thr350Ser)
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|
|
NM_000155.4(GALT):c.1052del (p.Pro351fs)
|
rs111033813
|
|
NM_000155.4(GALT):c.1055A>G (p.Glu352Gly)
|
rs1821203474
|
|
NM_000155.4(GALT):c.1057C>T (p.Gln353Ter)
|
rs111033818
|
|
NM_000155.4(GALT):c.1059+1G>T
|
rs1554709516
|
|
NM_000155.4(GALT):c.1060-1G>A
|
rs367543268
|
|
NM_000155.4(GALT):c.1060-2A>G
|
|
|
NM_000155.4(GALT):c.1087G>A (p.Glu363Lys)
|
rs367543273
|
|
NM_000155.4(GALT):c.1087G>T (p.Glu363Ter)
|
|
|
NM_000155.4(GALT):c.1140A>C (p.Ter380Cys)
|
rs111033827
|
|
NM_000155.4(GALT):c.132del (p.Ser45fs)
|
rs1554709139
|
|
NM_000155.4(GALT):c.133T>C (p.Ser45Pro)
|
rs2132341560
|
|
NM_000155.4(GALT):c.134C>T (p.Ser45Leu)
|
rs111033652
|
|
NM_000155.4(GALT):c.14_23dup (p.Gln9fs)
|
rs1554709110
|
|
NM_000155.4(GALT):c.152G>T (p.Arg51Leu)
|
rs111033648
|
|
NM_000155.4(GALT):c.164del (p.Gly55fs)
|
rs1554709146
|
|
NM_000155.4(GALT):c.165_174del (p.Gln56fs)
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|
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NM_000155.4(GALT):c.180del (p.Gln60fs)
|
rs1554709148
|
|
NM_000155.4(GALT):c.189dup (p.Thr64fs)
|
rs1554709151
|
|
NM_000155.4(GALT):c.18del (p.Asp7fs)
|
rs111033638
|
|
NM_000155.4(GALT):c.209del (p.Pro70fs)
|
|
|
NM_000155.4(GALT):c.20del (p.Asp7fs)
|
|
|
NM_000155.4(GALT):c.213dup (p.Asn72fs)
|
|
|
NM_000155.4(GALT):c.221T>C (p.Leu74Pro)
|
rs111033663
|
|
NM_000155.4(GALT):c.231_233delinsT (p.Ala78fs)
|
|
|
NM_000155.4(GALT):c.238C>T (p.Arg80Ter)
|
rs111033664
|
|
NM_000155.4(GALT):c.241G>A (p.Ala81Thr)
|
rs111033665
|
|
NM_000155.4(GALT):c.25C>T (p.Gln9Ter)
|
rs111033848
|
|
NM_000155.4(GALT):c.267C>G (p.Tyr89Ter)
|
|
|
NM_000155.4(GALT):c.289A>G (p.Asn97Asp)
|
rs1564100957
|
|
NM_000155.4(GALT):c.290A>G (p.Asn97Ser)
|
rs111033669
|
|
NM_000155.4(GALT):c.290A>T (p.Asn97Ile)
|
rs111033669
|
|
NM_000155.4(GALT):c.292G>C (p.Asp98His)
|
rs111033670
|
|
NM_000155.4(GALT):c.29_48delinsGACC (p.Gln10fs)
|
rs1587236467
|
|
NM_000155.4(GALT):c.2T>C (p.Met1Thr)
|
rs771702963
|
|
NM_000155.4(GALT):c.328+2T>G
|
|
|
NM_000155.4(GALT):c.368G>A (p.Arg123Gln)
|
rs111033675
|
|
NM_000155.4(GALT):c.378-2A>G
|
rs1554709280
|
|
NM_000155.4(GALT):c.378-2A>T
|
rs1554709280
|
|
NM_000155.4(GALT):c.37C>T (p.Gln13Ter)
|
|
|
NM_000155.4(GALT):c.385A>T (p.Met129Leu)
|
rs193922248
|
|
NM_000155.4(GALT):c.394C>T (p.His132Tyr)
|
rs111033688
|
|
NM_000155.4(GALT):c.403T>G (p.Ser135Ala)
|
rs2132343082
|
|
NM_000155.4(GALT):c.404C>G (p.Ser135Trp)
|
rs111033690
|
|
NM_000155.4(GALT):c.405G>A (p.Ser135=)
|
rs141232328
|
|
NM_000155.4(GALT):c.412del (p.Thr138fs)
|
|
|
NM_000155.4(GALT):c.413C>G (p.Thr138Arg)
|
rs111033686
|
|
NM_000155.4(GALT):c.41delinsTT (p.Ala14fs)
|
rs111033634
|
|
NM_000155.4(GALT):c.424A>C (p.Met142Leu)
|
|
|
NM_000155.4(GALT):c.424A>G (p.Met142Val)
|
rs111033692
|
|
NM_000155.4(GALT):c.428C>T (p.Ser143Leu)
|
rs111033697
|
|
NM_000155.4(GALT):c.450del (p.Val151fs)
|
|
|
NM_000155.4(GALT):c.468_469delinsT (p.Val157fs)
|
|
|
NM_000155.4(GALT):c.499T>C (p.Trp167Arg)
|
rs111033708
|
|
NM_000155.4(GALT):c.501G>C (p.Trp167Cys)
|
|
|
NM_000155.4(GALT):c.502G>A (p.Val168Met)
|
rs367543258
|
|
NM_000155.4(GALT):c.502G>T (p.Val168Leu)
|
rs367543258
|
|
NM_000155.4(GALT):c.508-1G>C
|
rs398123181
|
|
NM_000155.4(GALT):c.513del (p.Phe171fs)
|
rs886044409
|
|
NM_000155.4(GALT):c.513dup (p.Glu172Ter)
|
rs886044409
|
|
NM_000155.4(GALT):c.514G>T (p.Glu172Ter)
|
rs780156428
|
|
NM_000155.4(GALT):c.524G>A (p.Gly175Asp)
|
rs111033718
|
|
NM_000155.4(GALT):c.533T>G (p.Met178Arg)
|
|
|
NM_000155.4(GALT):c.535G>C (p.Gly179Arg)
|
|
|
NM_000155.4(GALT):c.547C>A (p.Pro183Thr)
|
rs111033721
|
|
NM_000155.4(GALT):c.550C>G (p.His184Asp)
|
rs111033716
|
|
NM_000155.4(GALT):c.550dup (p.His184fs)
|
|
|
NM_000155.4(GALT):c.552C>A (p.His184Gln)
|
rs111033717
|
|
NM_000155.4(GALT):c.556C>A (p.His186Asn)
|
rs111033725
|
|
NM_000155.4(GALT):c.557A>G (p.His186Arg)
|
|
|
NM_000155.4(GALT):c.558C>A (p.His186Gln)
|
rs886042097
|
|
NM_000155.4(GALT):c.561C>A (p.Cys187Ter)
|
rs1821157539
|
|
NM_000155.4(GALT):c.561_564+9del
|
rs1554709342
|
|
NM_000155.4(GALT):c.562C>T (p.Gln188Ter)
|
rs398123182
|
|
NM_000155.4(GALT):c.564+1G>A
|
rs111033723
|
|
NM_000155.4(GALT):c.564+1G>T
|
rs111033723
|
|
NM_000155.4(GALT):c.565-2A>G
|
rs111033731
|
|
NM_000155.4(GALT):c.565_578del
|
|
|
NM_000155.4(GALT):c.572C>T (p.Ala191Val)
|
rs794727838
|
|
NM_000155.4(GALT):c.586C>G (p.Pro196Ala)
|
|
|
NM_000155.4(GALT):c.587C>T (p.Pro196Leu)
|
rs886042066
|
|
NM_000155.4(GALT):c.598C>T (p.Gln200Ter)
|
rs1564101619
|
|
NM_000155.4(GALT):c.598del (p.Gln200fs)
|
rs111033738
|
|
NM_000155.4(GALT):c.604G>A (p.Glu202Lys)
|
rs2132344159
|
|
NM_000155.4(GALT):c.608A>G (p.Glu203Gly)
|
rs2132344172
|
|
NM_000155.4(GALT):c.611G>C (p.Arg204Pro)
|
rs111033740
|
|
NM_000155.4(GALT):c.615_616del (p.Gln206fs)
|
|
|
NM_000155.4(GALT):c.617A>G (p.Gln206Arg)
|
rs1587239309
|
|
NM_000155.4(GALT):c.619C>T (p.Gln207Ter)
|
rs111033743
|
|
NM_000155.4(GALT):c.625T>G (p.Tyr209Asp)
|
rs2132344222
|
|
NM_000155.4(GALT):c.626A>C (p.Tyr209Ser)
|
rs111033744
|
|
NM_000155.4(GALT):c.627T>A (p.Tyr209Ter)
|
rs1057516720
|
|
NM_000155.4(GALT):c.634C>T (p.Gln212Ter)
|
rs111033746
|
|
NM_000155.4(GALT):c.645_646insGAGT (p.Pro216fs)
|
|
|
NM_000155.4(GALT):c.650T>C (p.Leu217Pro)
|
rs111033741
|
|
NM_000155.4(GALT):c.652_653del (p.Leu218fs)
|
|
|
NM_000155.4(GALT):c.652del (p.Leu217_Leu218insTer)
|
rs111033742
|
|
NM_000155.4(GALT):c.667C>A (p.Arg223Ser)
|
rs111033750
|
|
NM_000155.4(GALT):c.668G>A (p.Arg223His)
|
|
|
NM_000155.4(GALT):c.669_670del (p.Gln224fs)
|
|
|
NM_000155.4(GALT):c.670C>T (p.Gln224Ter)
|
rs1821166869
|
|
NM_000155.4(GALT):c.670del (p.Gln224fs)
|
rs1057516883
|
|
NM_000155.4(GALT):c.680_681del (p.Leu227fs)
|
|
|
NM_000155.4(GALT):c.687+1G>T
|
rs193922250
|
|
NM_000155.4(GALT):c.688-1G>C
|
rs1821175162
|
|
NM_000155.4(GALT):c.691C>G (p.Arg231Gly)
|
rs111033749
|
|
NM_000155.4(GALT):c.719_728del (p.Leu240fs)
|
rs111033838
|
|
NM_000155.4(GALT):c.737G>A (p.Trp246Ter)
|
rs1821176206
|
|
NM_000155.4(GALT):c.752_753delinsCT (p.Tyr251Ser)
|
rs886043390
|
|
NM_000155.4(GALT):c.754del (p.Gln252fs)
|
|
|
NM_000155.4(GALT):c.761dup (p.Leu255fs)
|
rs747036550
|
|
NM_000155.4(GALT):c.776G>A (p.Arg259Gln)
|
rs886042070
|
|
NM_000155.4(GALT):c.796G>T (p.Glu266Ter)
|
rs1821178833
|
|
NM_000155.4(GALT):c.815G>A (p.Arg272His)
|
rs111033831
|
|
NM_000155.4(GALT):c.815G>T (p.Arg272Leu)
|
|
|
NM_000155.4(GALT):c.82+2del
|
rs794726876
|
|
NM_000155.4(GALT):c.820+13A>G
|
rs111033768
|
|
NM_000155.4(GALT):c.821-1del
|
rs2132345349
|
|
NM_000155.4(GALT):c.823C>G (p.Leu275Val)
|
rs796051967
|
|
NM_000155.4(GALT):c.83-2A>G
|
rs1057517415
|
|
NM_000155.4(GALT):c.835A>G (p.Met279Val)
|
|
|
NM_000155.4(GALT):c.836T>G (p.Met279Arg)
|
rs111033779
|
|
NM_000155.4(GALT):c.849_850del (p.Leu283fs)
|
|
|
NM_000155.4(GALT):c.853A>T (p.Lys285Ter)
|
rs1821183505
|
|
NM_000155.4(GALT):c.854A>C (p.Lys285Thr)
|
|
|
NM_000155.4(GALT):c.856_864del (p.Tyr286_Asn288del)
|
rs1587240095
|
|
NM_000155.4(GALT):c.86A>G (p.His29Arg)
|
rs2132341442
|
|
NM_000155.4(GALT):c.881T>A (p.Phe294Tyr)
|
rs111033781
|
|
NM_000155.4(GALT):c.883C>T (p.Pro295Ser)
|
|
|
NM_000155.4(GALT):c.888C>A (p.Tyr296Ter)
|
rs1554709447
|
|
NM_000155.4(GALT):c.888C>G (p.Tyr296Ter)
|
rs1554709447
|
|
NM_000155.4(GALT):c.892A>G (p.Met298Val)
|
rs1821187430
|
|
NM_000155.4(GALT):c.895G>A (p.Gly299Ser)
|
rs1587240180
|
|
NM_000155.4(GALT):c.896G>A (p.Gly299Asp)
|
|
|
NM_000155.4(GALT):c.900G>T (p.Trp300Cys)
|
|
|
NM_000155.4(GALT):c.904+1G>T
|
rs367543271
|
|
NM_000155.4(GALT):c.905-2A>G
|
rs398123187
|
|
NM_000155.4(GALT):c.910C>G (p.Pro304Ala)
|
|
|
NM_000155.4(GALT):c.910C>T (p.Pro304Ser)
|
rs2132346162
|
|
NM_000155.4(GALT):c.912_913insGA (p.Thr305fs)
|
|
|
NM_000155.4(GALT):c.912dup (p.Thr305fs)
|
rs746285782
|
|
NM_000155.4(GALT):c.91C>A (p.His31Asn)
|
rs111033643
|
|
NM_000155.4(GALT):c.957C>A (p.His319Gln)
|
rs111033792
|
|
NM_000155.4(GALT):c.957C>G (p.His319Gln)
|
rs111033792
|
|
NM_000155.4(GALT):c.971C>T (p.Pro324Leu)
|
|
|
NM_000155.4(GALT):c.979_986del (p.Leu327fs)
|
rs1554709502
|
|
NM_000155.4(GALT):c.980T>C (p.Leu327Pro)
|
rs111033832
|
|
NM_000155.4(GALT):c.98G>A (p.Arg33His)
|
rs111033829
|
|
NM_000155.4(GALT):c.997C>T (p.Arg333Trp)
|
rs111033800
|
|
NM_000158.4(GBE1):c.1000del (p.Ile334fs)
|
|
|
NM_000158.4(GBE1):c.1053del (p.Phe351fs)
|
|
|
NM_000158.4(GBE1):c.1108+2T>C
|
|
|
NM_000158.4(GBE1):c.1109-1G>A
|
rs763258786
|
|
NM_000158.4(GBE1):c.1109-2A>G
|
|
|
NM_000158.4(GBE1):c.1141_1142del (p.Phe381fs)
|
|
|
NM_000158.4(GBE1):c.1236+1G>A
|
|
|
NM_000158.4(GBE1):c.1245_1258del (p.Gly416fs)
|
rs1703800818
|
|
NM_000158.4(GBE1):c.1269_1270insC (p.Ile424fs)
|
|
|
NM_000158.4(GBE1):c.1276C>T (p.Gln426Ter)
|
|
|
NM_000158.4(GBE1):c.1336-1G>A
|
rs375253942
|
|
NM_000158.4(GBE1):c.1364G>A (p.Trp455Ter)
|
|
|
NM_000158.4(GBE1):c.1365G>A (p.Trp455Ter)
|
|
|
NM_000158.4(GBE1):c.143+2T>C
|
rs2107250439
|
|
NM_000158.4(GBE1):c.1443delinsCGC (p.Gln482fs)
|
|
|
NM_000158.4(GBE1):c.1484T>C (p.Met495Thr)
|
rs1456579860
|
|
NM_000158.4(GBE1):c.1496T>A (p.Met499Lys)
|
|
|
NM_000158.4(GBE1):c.1543C>G (p.Arg515Gly)
|
|
|
NM_000158.4(GBE1):c.1543C>T (p.Arg515Cys)
|
rs80338672
|
|
NM_000158.4(GBE1):c.1561A>T (p.Lys521Ter)
|
rs773775991
|
|
NM_000158.4(GBE1):c.1570C>G (p.Arg524Gly)
|
rs137852888
|
|
NM_000158.4(GBE1):c.1612T>G (p.Phe538Val)
|
|
|
NM_000158.4(GBE1):c.1618+1G>A
|
rs1703670302
|
|
NM_000158.4(GBE1):c.1619-1G>A
|
rs2106872434
|
|
NM_000158.4(GBE1):c.1622A>G (p.Asn541Ser)
|
|
|
NM_000158.4(GBE1):c.1634A>G (p.His545Arg)
|
rs137852889
|
|
NM_000158.4(GBE1):c.1671dup (p.Glu558Ter)
|
|
|
NM_000158.4(GBE1):c.1675_1676del (p.Ser559fs)
|
|
|
NM_000158.4(GBE1):c.167del (p.Ile55_Leu56insTer)
|
|
|
NM_000158.4(GBE1):c.1680C>A (p.Tyr560Ter)
|
rs1559637815
|
|
NM_000158.4(GBE1):c.1706del (p.His568_Leu569insTer)
|
rs1367364158
|
|
NM_000158.4(GBE1):c.1738del (p.Phe579_Leu580insTer)
|
|
|
NM_000158.4(GBE1):c.1799_1803+8del
|
|
|
NM_000158.4(GBE1):c.1803+1G>A
|
rs1273791312
|
|
NM_000158.4(GBE1):c.1804-2A>T
|
rs1224090803
|
|
NM_000158.4(GBE1):c.1825G>T (p.Glu609Ter)
|
rs772802187
|
|
NM_000158.4(GBE1):c.1934+1A>G
|
|
|
NM_000158.4(GBE1):c.1934+2T>A
|
rs752625236
|
|
NM_000158.4(GBE1):c.1934+2T>C
|
|
|
NM_000158.4(GBE1):c.1935-1C>A
|
|
|
NM_000158.4(GBE1):c.1935-1C>T
|
rs1475447884
|
|
NM_000158.4(GBE1):c.1935-2A>G
|
|
|
NM_000158.4(GBE1):c.1935-2del
|
rs2106810015
|
|
NM_000158.4(GBE1):c.2052+1G>A
|
rs2106809795
|
|
NM_000158.4(GBE1):c.2052+1G>T
|
rs2106809795
|
|
NM_000158.4(GBE1):c.314-1G>C
|
|
|
NM_000158.4(GBE1):c.314-2A>G
|
rs2107114825
|
|
NM_000158.4(GBE1):c.321G>A (p.Trp107Ter)
|
rs2107114808
|
|
NM_000158.4(GBE1):c.336C>A (p.Tyr112Ter)
|
rs773473771
|
|
NM_000158.4(GBE1):c.430-1G>C
|
|
|
NM_000158.4(GBE1):c.47del (p.Ala16fs)
|
rs2107250805
|
|
NM_000158.4(GBE1):c.480G>A (p.Trp160Ter)
|
rs776943352
|
|
NM_000158.4(GBE1):c.556-1G>A
|
|
|
NM_000158.4(GBE1):c.556-2A>G
|
|
|
NM_000158.4(GBE1):c.691+5G>C
|
rs397515344
|
|
NM_000158.4(GBE1):c.692-1G>A
|
|
|
NM_000158.4(GBE1):c.753C>G (p.Tyr251Ter)
|
|
|
NM_000158.4(GBE1):c.754C>T (p.Gln252Ter)
|
|
|
NM_000158.4(GBE1):c.755_756delinsC (p.Gln252fs)
|
|
|
NM_000158.4(GBE1):c.770T>C (p.Phe257Ser)
|
rs1576183537
|
|
NM_000158.4(GBE1):c.783-1G>A
|
rs397515342
|
|
NM_000158.4(GBE1):c.783C>A (p.Ser261Arg)
|
|
|
NM_000158.4(GBE1):c.783C>G (p.Ser261Arg)
|
rs1559673607
|
|
NM_000158.4(GBE1):c.790G>A (p.Gly264Arg)
|
|
|
NM_000158.4(GBE1):c.791G>A (p.Gly264Glu)
|
rs754525424
|
|
NM_000158.4(GBE1):c.791G>C (p.Gly264Ala)
|
|
|
NM_000158.4(GBE1):c.854T>G (p.Leu285Ter)
|
|
|
NM_000158.4(GBE1):c.872_874delinsTT (p.His291fs)
|
|
|
NM_000158.4(GBE1):c.909_912del (p.Phe303fs)
|
rs2107059544
|
|
NM_000158.4(GBE1):c.955C>G (p.His319Asp)
|
|
|
NM_000158.4(GBE1):c.956A>G (p.His319Arg)
|
rs1490328834
|
|
NM_000158.4(GBE1):c.957_958insCTAT (p.Asp320delinsLeuTer)
|
|
|
NM_000158.4(GBE1):c.985T>C (p.Tyr329His)
|
|
|
NM_000158.4(GBE1):c.992+2T>G
|
rs772349876
|
|
NM_000158.4(GBE1):c.993-1dup
|
|
|
NM_000158.4(GBE1):c.993-2A>G
|
|
|
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.1112G>T (p.Cys371Phe)
|
rs587780343
|
|
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.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.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.122T>G (p.Met41Arg)
|
|
|
NM_000162.5(GCK):c.122_123insAGGAGATG (p.Met41fs)
|
|
|
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.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.1354G>C (p.Val452Leu)
|
|
|
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.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.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.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.563C>T (p.Ala188Val)
|
rs193922307
|
|
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.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.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.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.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.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_000181.4(GUSB):c.104C>A (p.Ser35Ter)
|
rs1238361161
|
|
NM_000181.4(GUSB):c.107G>T (p.Arg36Leu)
|
rs1264172545
|
|
NM_000181.4(GUSB):c.1084_1110del (p.Asp362_Phe370del)
|
rs1791443181
|
|
NM_000181.4(GUSB):c.1192C>T (p.Arg398Cys)
|
|
|
NM_000181.4(GUSB):c.1412A>C (p.Lys471Thr)
|
rs1302470051
|
|
NM_000181.4(GUSB):c.1469A>G (p.Asp490Gly)
|
rs2115900875
|
|
NM_000181.4(GUSB):c.1476_1476+13del
|
|
|
NM_000181.4(GUSB):c.1477-1G>C
|
|
|
NM_000181.4(GUSB):c.1477-2A>G
|
|
|
NM_000181.4(GUSB):c.1654-1G>A
|
|
|
NM_000181.4(GUSB):c.1783del (p.Glu595fs)
|
|
|
NM_000181.4(GUSB):c.1832G>A (p.Arg611Gln)
|
rs1583879945
|
|
NM_000181.4(GUSB):c.2T>G (p.Met1Arg)
|
|
|
NM_000181.4(GUSB):c.396+1G>A
|
|
|
NM_000181.4(GUSB):c.406G>A (p.Gly136Arg)
|
|
|
NM_000181.4(GUSB):c.560_581+13del
|
|
|
NM_000181.4(GUSB):c.581+1G>A
|
|
|
NM_000181.4(GUSB):c.647G>A (p.Arg216Gln)
|
rs1791836120
|
|
NM_000181.4(GUSB):c.724+1G>T
|
rs2116026958
|
|
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_000199.5(SGSH):c.1000dup (p.Ala334fs)
|
|
|
NM_000199.5(SGSH):c.1042_1055delinsA (p.Leu348fs)
|
|
|
NM_000199.5(SGSH):c.1062del (p.Glu355fs)
|
|
|
NM_000199.5(SGSH):c.1063G>T (p.Glu355Ter)
|
|
|
NM_000199.5(SGSH):c.1069dup (p.Leu357fs)
|
|
|
NM_000199.5(SGSH):c.1073G>A (p.Trp358Ter)
|
|
|
NM_000199.5(SGSH):c.1085_1086del (p.Phe362fs)
|
|
|
NM_000199.5(SGSH):c.1091_1103del (p.Ser364fs)
|
rs1567915763
|
|
NM_000199.5(SGSH):c.1097del (p.Ser366fs)
|
rs1598738720
|
|
NM_000199.5(SGSH):c.1129C>A (p.Arg377Ser)
|
|
|
NM_000199.5(SGSH):c.1130G>A (p.Arg377His)
|
rs746037899
|
|
NM_000199.5(SGSH):c.1144_1145insAGCGCC (p.His381_Arg382insGlnArg)
|
rs398123244
|
|
NM_000199.5(SGSH):c.1147del (p.His383fs)
|
rs1598738369
|
|
NM_000199.5(SGSH):c.1153del (p.Arg385fs)
|
rs2041615714
|
|
NM_000199.5(SGSH):c.1186T>C (p.Phe396Leu)
|
|
|
NM_000199.5(SGSH):c.118T>A (p.Tyr40Asn)
|
rs1598758001
|
|
NM_000199.5(SGSH):c.1195G>A (p.Asp399Asn)
|
rs1064794815
|
|
NM_000199.5(SGSH):c.1218del (p.Thr407fs)
|
|
|
NM_000199.5(SGSH):c.1228_1241del (p.Asp410fs)
|
|
|
NM_000199.5(SGSH):c.1295_1303del (p.Tyr432_Arg435delinsCys)
|
rs1567914835
|
|
NM_000199.5(SGSH):c.1308G>A (p.Trp436Ter)
|
rs1555620141
|
|
NM_000199.5(SGSH):c.1317C>A (p.Tyr439Ter)
|
|
|
NM_000199.5(SGSH):c.1340A>G (p.Glu447Gly)
|
|
|
NM_000199.5(SGSH):c.1375C>T (p.Gln459Ter)
|
rs1567914459
|
|
NM_000199.5(SGSH):c.1380del (p.Leu461fs)
|
rs1555620092
|
|
NM_000199.5(SGSH):c.1431C>A (p.Asp477Glu)
|
|
|
NM_000199.5(SGSH):c.1455del (p.Val486fs)
|
|
|
NM_000199.5(SGSH):c.148_149insAGTG (p.Leu50fs)
|
|
|
NM_000199.5(SGSH):c.171C>G (p.Ser57Arg)
|
rs1131691434
|
|
NM_000199.5(SGSH):c.188C>A (p.Ala63Asp)
|
|
|
NM_000199.5(SGSH):c.197C>T (p.Ser66Leu)
|
|
|
NM_000199.5(SGSH):c.216del (p.Ser73fs)
|
rs1555622888
|
|
NM_000199.5(SGSH):c.221G>A (p.Arg74His)
|
rs778336949
|
|
NM_000199.5(SGSH):c.235A>C (p.Thr79Pro)
|
rs779703983
|
|
NM_000199.5(SGSH):c.239G>T (p.Gly80Val)
|
|
|
NM_000199.5(SGSH):c.250-2A>G
|
|
|
NM_000199.5(SGSH):c.254A>G (p.Gln85Arg)
|
|
|
NM_000199.5(SGSH):c.267C>A (p.Tyr89Ter)
|
rs1479456289
|
|
NM_000199.5(SGSH):c.268G>C (p.Gly90Arg)
|
rs774010006
|
|
NM_000199.5(SGSH):c.28_37del (p.Cys9_Ala10insTer)
|
rs1555624111
|
|
NM_000199.5(SGSH):c.333_335delinsTGGT (p.Ser112fs)
|
|
|
NM_000199.5(SGSH):c.341_342insGCTCACC (p.Gly115fs)
|
|
|
NM_000199.5(SGSH):c.356-1G>A
|
rs1555621984
|
|
NM_000199.5(SGSH):c.356-29_380del
|
|
|
NM_000199.5(SGSH):c.356-2A>G
|
rs1057517927
|
|
NM_000199.5(SGSH):c.36_88+420del
|
|
|
NM_000199.5(SGSH):c.396C>A (p.Tyr132Ter)
|
|
|
NM_000199.5(SGSH):c.466A>T (p.Lys156Ter)
|
rs2041818115
|
|
NM_000199.5(SGSH):c.47_48del (p.Gly16fs)
|
|
|
NM_000199.5(SGSH):c.490C>T (p.Gln164Ter)
|
rs1598749661
|
|
NM_000199.5(SGSH):c.506+1G>A
|
rs763063355
|
|
NM_000199.5(SGSH):c.525_526insA (p.Ala176fs)
|
|
|
NM_000199.5(SGSH):c.535G>A (p.Asp179Asn)
|
|
|
NM_000199.5(SGSH):c.539C>T (p.Pro180Leu)
|
|
|
NM_000199.5(SGSH):c.54C>A (p.Cys18Ter)
|
rs1555624080
|
|
NM_000199.5(SGSH):c.573_574del (p.Thr192fs)
|
|
|
NM_000199.5(SGSH):c.617G>C (p.Arg206Pro)
|
rs104894643
|
|
NM_000199.5(SGSH):c.645C>A (p.Tyr215Ter)
|
|
|
NM_000199.5(SGSH):c.663+1G>A
|
|
|
NM_000199.5(SGSH):c.664-1G>T
|
rs1555621425
|
|
NM_000199.5(SGSH):c.670del (p.Tyr224fs)
|
|
|
NM_000199.5(SGSH):c.673T>C (p.Phe225Leu)
|
rs1057521801
|
|
NM_000199.5(SGSH):c.675C>G (p.Phe225Leu)
|
rs34520362
|
|
NM_000199.5(SGSH):c.691_698del (p.Ala231fs)
|
|
|
NM_000199.5(SGSH):c.693_705del (p.Ala232fs)
|
rs2041772144
|
|
NM_000199.5(SGSH):c.703G>C (p.Asp235His)
|
|
|
NM_000199.5(SGSH):c.703G>T (p.Asp235Tyr)
|
|
|
NM_000199.5(SGSH):c.733C>A (p.Arg245Ser)
|
|
|
NM_000199.5(SGSH):c.733C>T (p.Arg245Cys)
|
rs1455698449
|
|
NM_000199.5(SGSH):c.734G>T (p.Arg245Leu)
|
rs104894635
|
|
NM_000199.5(SGSH):c.745+1G>C
|
rs748525651
|
|
NM_000199.5(SGSH):c.7_16del (p.Cys3fs)
|
|
|
NM_000199.5(SGSH):c.823G>A (p.Gly275Arg)
|
rs765361603
|
|
NM_000199.5(SGSH):c.866_867del (p.Gly289fs)
|
|
|
NM_000199.5(SGSH):c.88G>C (p.Ala30Pro)
|
rs758793075
|
|
NM_000199.5(SGSH):c.88_88+67del
|
rs2144830115
|
|
NM_000199.5(SGSH):c.89-2A>G
|
rs1369704445
|
|
NM_000199.5(SGSH):c.909del (p.Lys303fs)
|
rs775136193
|
|
NM_000199.5(SGSH):c.927C>G (p.Ser309Arg)
|
rs1385473515
|
|
NM_000199.5(SGSH):c.949+1G>A
|
|
|
NM_000199.5(SGSH):c.961A>G (p.Thr321Ala)
|
rs758756630
|
|
NM_000202.8(IDS):c.1001A>G (p.Asp334Gly)
|
rs2089378583
|
|
NM_000202.8(IDS):c.1003C>T (p.His335Tyr)
|
rs869025302
|
|
NM_000202.8(IDS):c.1006G>T (p.Gly336Trp)
|
rs1557338581
|
|
NM_000202.8(IDS):c.1007-133A>G
|
rs2124007227
|
|
NM_000202.8(IDS):c.1007G>A (p.Gly336Glu)
|
|
|
NM_000202.8(IDS):c.1021G>A (p.Glu341Lys)
|
rs2124006380
|
|
NM_000202.8(IDS):c.1024C>T (p.His342Tyr)
|
rs2089343220
|
|
NM_000202.8(IDS):c.1025A>C (p.His342Pro)
|
rs869025303
|
|
NM_000202.8(IDS):c.104-2A>G
|
rs2089505773
|
|
NM_000202.8(IDS):c.1040A>G (p.Lys347Arg)
|
rs2089342939
|
|
NM_000202.8(IDS):c.1080_1081insGAATAA (p.Phe361delinsGluTer)
|
rs2124006012
|
|
NM_000202.8(IDS):c.111_112insGA (p.Asn38fs)
|
|
|
NM_000202.8(IDS):c.1122C>T (p.Gly374=)
|
rs113993948
|
|
NM_000202.8(IDS):c.1142T>G (p.Leu381Arg)
|
rs1602730439
|
|
NM_000202.8(IDS):c.1170del (p.Met391fs)
|
|
|
NM_000202.8(IDS):c.117TCT[1] (p.Leu41del)
|
rs2089505317
|
|
NM_000202.8(IDS):c.121_123del (p.Leu41del)
|
rs2124066296
|
|
NM_000202.8(IDS):c.1249C>T (p.Gln417Ter)
|
rs2123994961
|
|
NM_000202.8(IDS):c.1254del (p.Pro419fs)
|
rs2123994946
|
|
NM_000202.8(IDS):c.1259del (p.Pro420fs)
|
rs2089307675
|
|
NM_000202.8(IDS):c.1264T>C (p.Cys422Arg)
|
rs199422229
|
|
NM_000202.8(IDS):c.1264T>G (p.Cys422Gly)
|
rs199422229
|
|
NM_000202.8(IDS):c.1265G>A (p.Cys422Tyr)
|
rs886044835
|
|
NM_000202.8(IDS):c.1269del (p.Val424fs)
|
|
|
NM_000202.8(IDS):c.133G>C (p.Asp45His)
|
rs869025301
|
|
NM_000202.8(IDS):c.1345_1349del (p.Glu449fs)
|
|
|
NM_000202.8(IDS):c.136G>T (p.Asp46Tyr)
|
rs2089504816
|
|
NM_000202.8(IDS):c.1375G>T (p.Glu459Ter)
|
rs2123994508
|
|
NM_000202.8(IDS):c.1400C>G (p.Pro467Arg)
|
rs1602725808
|
|
NM_000202.8(IDS):c.1402C>T (p.Arg468Trp)
|
rs199422231
|
|
NM_000202.8(IDS):c.1406C>T (p.Pro469Leu)
|
rs2123994360
|
|
NM_000202.8(IDS):c.1418C>T (p.Pro473Leu)
|
rs2089305403
|
|
NM_000202.8(IDS):c.1436_1457dup (p.Ile487fs)
|
rs2123994213
|
|
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.1442delinsTC (p.Ser481fs)
|
rs2123994237
|
|
NM_000202.8(IDS):c.1454T>A (p.Ile485Lys)
|
rs782430567
|
|
NM_000202.8(IDS):c.1478G>C (p.Arg493Pro)
|
rs782347729
|
|
NM_000202.8(IDS):c.1494del (p.Arg498fs)
|
|
|
NM_000202.8(IDS):c.1504T>G (p.Trp502Gly)
|
rs2089304297
|
|
NM_000202.8(IDS):c.1563A>T (p.Glu521Asp)
|
rs1602725543
|
|
NM_000202.8(IDS):c.1568A>G (p.Tyr523Cys)
|
rs2089303696
|
|
NM_000202.8(IDS):c.1591C>T (p.Gln531Ter)
|
rs886044837
|
|
NM_000202.8(IDS):c.187A>G (p.Asn63Asp)
|
rs193302909
|
|
NM_000202.8(IDS):c.205_206insAAACTGGCAT (p.Ser69Ter)
|
rs2124065847
|
|
NM_000202.8(IDS):c.212G>T (p.Ser71Ile)
|
rs113993954
|
|
NM_000202.8(IDS):c.241-3C>G
|
rs2124063783
|
|
NM_000202.8(IDS):c.253G>A (p.Ala85Thr)
|
rs113993949
|
|
NM_000202.8(IDS):c.263G>A (p.Arg88His)
|
rs2089497431
|
|
NM_000202.8(IDS):c.275T>C (p.Leu92Pro)
|
rs2089497300
|
|
NM_000202.8(IDS):c.285_287del (p.Arg96del)
|
|
|
NM_000202.8(IDS):c.292del (p.Asp98fs)
|
|
|
NM_000202.8(IDS):c.322T>G (p.Tyr108Asp)
|
|
|
NM_000202.8(IDS):c.328A>G (p.Arg110Gly)
|
rs2124063287
|
|
NM_000202.8(IDS):c.341del (p.Gly114fs)
|
|
|
NM_000202.8(IDS):c.353C>T (p.Thr118Ile)
|
|
|
NM_000202.8(IDS):c.356del (p.Ile119fs)
|
rs2124063133
|
|
NM_000202.8(IDS):c.359C>G (p.Pro120Arg)
|
rs193302911
|
|
NM_000202.8(IDS):c.369_372del (p.Phe123fs)
|
|
|
NM_000202.8(IDS):c.404A>G (p.Lys135Arg)
|
rs104894861
|
|
NM_000202.8(IDS):c.419-1G>A
|
rs1557339927
|
|
NM_000202.8(IDS):c.442G>T (p.Asp148Tyr)
|
rs1602745838
|
|
NM_000202.8(IDS):c.454A>C (p.Ser152Arg)
|
rs2124055504
|
|
NM_000202.8(IDS):c.455G>A (p.Ser152Asn)
|
rs193302914
|
|
NM_000202.8(IDS):c.592G>A (p.Asp198Asn)
|
rs193302904
|
|
NM_000202.8(IDS):c.596_599del (p.Lys199fs)
|
rs2089451657
|
|
NM_000202.8(IDS):c.601_602del (p.Ser201fs)
|
rs2124046861
|
|
NM_000202.8(IDS):c.613G>A (p.Ala205Thr)
|
rs864622779
|
|
NM_000202.8(IDS):c.631A>T (p.Lys211Ter)
|
|
|
NM_000202.8(IDS):c.636del (p.Met212fs)
|
|
|
NM_000202.8(IDS):c.670G>A (p.Gly224Arg)
|
rs2089450754
|
|
NM_000202.8(IDS):c.671G>C (p.Gly224Ala)
|
|
|
NM_000202.8(IDS):c.671_672del (p.Gly224fs)
|
|
|
NM_000202.8(IDS):c.683C>T (p.Pro228Leu)
|
rs113993945
|
|
NM_000202.8(IDS):c.685C>T (p.His229Tyr)
|
|
|
NM_000202.8(IDS):c.692C>G (p.Pro231Arg)
|
rs2089450305
|
|
NM_000202.8(IDS):c.695dup (p.Arg233fs)
|
|
|
NM_000202.8(IDS):c.696_697del (p.Phe232fs)
|
|
|
NM_000202.8(IDS):c.708G>A (p.Lys236=)
|
rs1602742620
|
|
NM_000202.8(IDS):c.737del (p.Asn246fs)
|
rs2124042006
|
|
NM_000202.8(IDS):c.741_743delinsTA (p.Leu249fs)
|
|
|
NM_000202.8(IDS):c.777dup (p.Pro260fs)
|
|
|
NM_000202.8(IDS):c.794A>T (p.Asn265Ile)
|
|
|
NM_000202.8(IDS):c.801G>T (p.Trp267Cys)
|
rs2124041510
|
|
NM_000202.8(IDS):c.811A>T (p.Arg271Trp)
|
rs1602740912
|
|
NM_000202.8(IDS):c.817C>T (p.Arg273Trp)
|
|
|
NM_000202.8(IDS):c.823G>A (p.Asp275Asn)
|
|
|
NM_000202.8(IDS):c.823G>T (p.Asp275Tyr)
|
|
|
NM_000202.8(IDS):c.877C>T (p.Gln293Ter)
|
|
|
NM_000202.8(IDS):c.880-2_880-1delinsCC
|
|
|
NM_000202.8(IDS):c.908C>T (p.Ser303Phe)
|
rs2124020665
|
|
NM_000202.8(IDS):c.913T>C (p.Ser305Pro)
|
rs2124020632
|
|
NM_000202.8(IDS):c.922G>C (p.Asp308His)
|
rs2124020573
|
|
NM_000202.8(IDS):c.923A>G (p.Asp308Gly)
|
rs2124020552
|
|
NM_000202.8(IDS):c.982_996del (p.Ile328_Thr332del)
|
rs2124020031
|
|
NM_000203.5(IDUA):c.1014_1015insATGGCCGCGTAGG (p.Ser339delinsMetAlaAlaTer)
|
|
|
NM_000203.5(IDUA):c.1029C>G (p.Tyr343Ter)
|
rs764196171
|
|
NM_000203.5(IDUA):c.1039A>C (p.Ser347Arg)
|
rs2153022349
|
|
NM_000203.5(IDUA):c.1040G>C (p.Ser347Thr)
|
rs780106243
|
|
NM_000203.5(IDUA):c.1044C>G (p.Asn348Lys)
|
rs746766617
|
|
NM_000203.5(IDUA):c.1045G>T (p.Asp349Tyr)
|
rs368454909
|
|
NM_000203.5(IDUA):c.1045_1047del (p.Asp349del)
|
rs1230096882
|
|
NM_000203.5(IDUA):c.1087C>A (p.Arg363Ser)
|
|
|
NM_000203.5(IDUA):c.1091C>A (p.Thr364Lys)
|
|
|
NM_000203.5(IDUA):c.1091C>G (p.Thr364Arg)
|
|
|
NM_000203.5(IDUA):c.1091C>T (p.Thr364Met)
|
rs121965032
|
|
NM_000203.5(IDUA):c.1096_1099del (p.Thr366fs)
|
rs2153022399
|
|
NM_000203.5(IDUA):c.1115A>G (p.Asn372Ser)
|
rs1553917304
|
|
NM_000203.5(IDUA):c.1118_1130del (p.Asn373fs)
|
|
|
NM_000203.5(IDUA):c.1145T>A (p.Leu382Ter)
|
|
|
NM_000203.5(IDUA):c.1147C>T (p.Arg383Cys)
|
|
|
NM_000203.5(IDUA):c.1163C>T (p.Thr388Met)
|
rs794727896
|
|
NM_000203.5(IDUA):c.1192GAG[1] (p.Glu399del)
|
|
|
NM_000203.5(IDUA):c.1219C>T (p.Gln407Ter)
|
rs1715178056
|
|
NM_000203.5(IDUA):c.1269C>A (p.Ser423Arg)
|
rs931627770
|
|
NM_000203.5(IDUA):c.1276_1282dup (p.Gln428fs)
|
rs1445719596
|
|
NM_000203.5(IDUA):c.1282C>T (p.Gln428Ter)
|
|
|
NM_000203.5(IDUA):c.1330GAC[1] (p.Asp445del)
|
rs1715188461
|
|
NM_000203.5(IDUA):c.1395del (p.Gly466fs)
|
rs1386109118
|
|
NM_000203.5(IDUA):c.1402+1G>A
|
rs398123254
|
|
NM_000203.5(IDUA):c.141GAG[1] (p.Arg48del)
|
rs1713799705
|
|
NM_000203.5(IDUA):c.1461G>A (p.Trp487Ter)
|
rs1715210435
|
|
NM_000203.5(IDUA):c.1466G>C (p.Arg489Pro)
|
rs1416328981
|
|
NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro)
|
rs121965027
|
|
NM_000203.5(IDUA):c.1475G>C (p.Arg492Pro)
|
rs121965026
|
|
NM_000203.5(IDUA):c.1513C>G (p.Arg505Gly)
|
rs1715218377
|
|
NM_000203.5(IDUA):c.1524+1G>T
|
rs1553917483
|
|
NM_000203.5(IDUA):c.1525-11_1536del
|
rs1715233169
|
|
NM_000203.5(IDUA):c.1525-1G>A
|
|
|
NM_000203.5(IDUA):c.1525-2A>C
|
rs2153022881
|
|
NM_000203.5(IDUA):c.1551del (p.Leu518fs)
|
|
|
NM_000203.5(IDUA):c.159-1G>A
|
rs1553914935
|
|
NM_000203.5(IDUA):c.159-2A>C
|
rs2153015588
|
|
NM_000203.5(IDUA):c.159-2A>G
|
rs2153015588
|
|
NM_000203.5(IDUA):c.1591del (p.Arg531fs)
|
rs1553917558
|
|
NM_000203.5(IDUA):c.1597C>A (p.Pro533Thr)
|
rs374779600
|
|
NM_000203.5(IDUA):c.1597C>T (p.Pro533Ser)
|
|
|
NM_000203.5(IDUA):c.1598C>A (p.Pro533Gln)
|
|
|
NM_000203.5(IDUA):c.1598C>T (p.Pro533Leu)
|
rs121965021
|
|
NM_000203.5(IDUA):c.1602del (p.Leu535fs)
|
rs1553917566
|
|
NM_000203.5(IDUA):c.1644del (p.Gln550fs)
|
|
|
NM_000203.5(IDUA):c.1650+1G>A
|
rs1434521185
|
|
NM_000203.5(IDUA):c.1650+2C>G
|
rs1553917580
|
|
NM_000203.5(IDUA):c.1650+5G>A
|
rs398123256
|
|
NM_000203.5(IDUA):c.1651-2A>G
|
rs2153022990
|
|
NM_000203.5(IDUA):c.1695_1705del (p.Leu566fs)
|
rs1220371654
|
|
NM_000203.5(IDUA):c.1709A>G (p.Asp570Gly)
|
|
|
NM_000203.5(IDUA):c.1709A>T (p.Asp570Val)
|
|
|
NM_000203.5(IDUA):c.1723_1727+4del
|
|
|
NM_000203.5(IDUA):c.1727+1G>A
|
rs1577544451
|
|
NM_000203.5(IDUA):c.1728-2A>G
|
rs1553917699
|
|
NM_000203.5(IDUA):c.1827_1828+4delinsTGTGT
|
|
|
NM_000203.5(IDUA):c.1829-1G>C
|
|
|
NM_000203.5(IDUA):c.1829-2A>G
|
rs1553917733
|
|
NM_000203.5(IDUA):c.1832_1833del (p.Thr611fs)
|
rs1553917735
|
|
NM_000203.5(IDUA):c.1845_1846del (p.Gly616fs)
|
rs1553917737
|
|
NM_000203.5(IDUA):c.1858G>T (p.Val620Phe)
|
rs2153023278
|
|
NM_000203.5(IDUA):c.1867del (p.Leu623fs)
|
rs1553917747
|
|
NM_000203.5(IDUA):c.1868T>C (p.Leu623Pro)
|
rs2153023287
|
|
NM_000203.5(IDUA):c.1868_1892del (p.Leu623fs)
|
rs1553917746
|
|
NM_000203.5(IDUA):c.1874A>C (p.Tyr625Ser)
|
|
|
NM_000203.5(IDUA):c.1874A>G (p.Tyr625Cys)
|
rs587779401
|
|
NM_000203.5(IDUA):c.1889G>A (p.Gly630Asp)
|
rs2153023301
|
|
NM_000203.5(IDUA):c.1893del (p.Phe632fs)
|
rs1553917754
|
|
NM_000203.5(IDUA):c.1897del (p.Ser633fs)
|
rs1553917756
|
|
NM_000203.5(IDUA):c.1898C>G (p.Ser633Trp)
|
rs886043347
|
|
NM_000203.5(IDUA):c.1907_1917del (p.Val636fs)
|
rs1715314710
|
|
NM_000203.5(IDUA):c.224C>T (p.Ala75Val)
|
rs1315260083
|
|
NM_000203.5(IDUA):c.24del (p.Ala9fs)
|
|
|
NM_000203.5(IDUA):c.256A>T (p.Lys86Ter)
|
|
|
NM_000203.5(IDUA):c.299_299+1delinsAT
|
rs2153015709
|
|
NM_000203.5(IDUA):c.300-1G>A
|
rs1553916890
|
|
NM_000203.5(IDUA):c.300-7_306del
|
|
|
NM_000203.5(IDUA):c.306del (p.Thr103fs)
|
rs1461124319
|
|
NM_000203.5(IDUA):c.326_331del (p.Tyr109_Asn110del)
|
|
|
NM_000203.5(IDUA):c.355del (p.Asp119fs)
|
|
|
NM_000203.5(IDUA):c.362T>C (p.Leu121Pro)
|
rs2153021634
|
|
NM_000203.5(IDUA):c.373C>T (p.Gln125Ter)
|
|
|
NM_000203.5(IDUA):c.390del (p.Phe130fs)
|
rs1560545883
|
|
NM_000203.5(IDUA):c.398_403del (p.Met133_Gly134del)
|
rs774605197
|
|
NM_000203.5(IDUA):c.3G>A (p.Met1Ile)
|
rs1553914740
|
|
NM_000203.5(IDUA):c.42_43del (p.Ala15fs)
|
|
|
NM_000203.5(IDUA):c.439C>T (p.Gln147Ter)
|
rs1389029860
|
|
NM_000203.5(IDUA):c.452_453del (p.Glu151fs)
|
|
|
NM_000203.5(IDUA):c.457A>T (p.Lys153Ter)
|
rs1715035049
|
|
NM_000203.5(IDUA):c.488dup (p.Tyr163Ter)
|
rs1553916950
|
|
NM_000203.5(IDUA):c.493+1G>A
|
rs1553916957
|
|
NM_000203.5(IDUA):c.512_513del (p.His171fs)
|
rs1715069355
|
|
NM_000203.5(IDUA):c.520A>T (p.Lys174Ter)
|
|
|
NM_000203.5(IDUA):c.523T>C (p.Trp175Arg)
|
rs875989946
|
|
NM_000203.5(IDUA):c.525G>A (p.Trp175Ter)
|
rs776305028
|
|
NM_000203.5(IDUA):c.536C>A (p.Thr179Lys)
|
|
|
NM_000203.5(IDUA):c.536C>G (p.Thr179Arg)
|
rs776098539
|
|
NM_000203.5(IDUA):c.539G>A (p.Trp180Ter)
|
rs1044231895
|
|
NM_000203.5(IDUA):c.540G>C (p.Trp180Cys)
|
|
|
NM_000203.5(IDUA):c.542dup (p.Asn181fs)
|
rs1553917044
|
|
NM_000203.5(IDUA):c.543_544inv (p.Glu182Lys)
|
|
|
NM_000203.5(IDUA):c.544G>A (p.Glu182Lys)
|
|
|
NM_000203.5(IDUA):c.548C>G (p.Pro183Arg)
|
rs1238128027
|
|
NM_000203.5(IDUA):c.589+1G>T
|
rs1293215555
|
|
NM_000203.5(IDUA):c.589G>A (p.Gly197Ser)
|
rs2153021926
|
|
NM_000203.5(IDUA):c.590-7G>A
|
rs762411583
|
|
NM_000203.5(IDUA):c.606C>G (p.Tyr202Ter)
|
rs1033313360
|
|
NM_000203.5(IDUA):c.607G>T (p.Asp203Tyr)
|
rs2153021976
|
|
NM_000203.5(IDUA):c.608A>G (p.Asp203Gly)
|
rs2153021978
|
|
NM_000203.5(IDUA):c.60_61delinsA (p.Pro22fs)
|
rs1553914762
|
|
NM_000203.5(IDUA):c.613T>G (p.Cys205Gly)
|
|
|
NM_000203.5(IDUA):c.615C>A (p.Cys205Ter)
|
rs1715086654
|
|
NM_000203.5(IDUA):c.617C>A (p.Ser206Ter)
|
|
|
NM_000203.5(IDUA):c.623G>C (p.Gly208Ala)
|
|
|
NM_000203.5(IDUA):c.655G>A (p.Gly219Arg)
|
|
|
NM_000203.5(IDUA):c.65del (p.Pro22fs)
|
rs1560531755
|
|
NM_000203.5(IDUA):c.663del (p.Gly222fs)
|
|
|
NM_000203.5(IDUA):c.675_677delinsT (p.Thr227fs)
|
|
|
NM_000203.5(IDUA):c.713T>C (p.Leu238Pro)
|
rs148789453
|
|
NM_000203.5(IDUA):c.718C>T (p.His240Tyr)
|
|
|
NM_000203.5(IDUA):c.751del (p.Glu251fs)
|
|
|
NM_000203.5(IDUA):c.751dup (p.Glu251fs)
|
|
|
NM_000203.5(IDUA):c.820G>T (p.Glu274Ter)
|
rs1553917192
|
|
NM_000203.5(IDUA):c.876del (p.Asp292fs)
|
rs1553917209
|
|
NM_000203.5(IDUA):c.878_889dup (p.Thr293_Tyr296dup)
|
rs779762183
|
|
NM_000203.5(IDUA):c.905C>G (p.Pro302Arg)
|
rs767140903
|
|
NM_000203.5(IDUA):c.955G>A (p.Ala319Thr)
|
|
|
NM_000203.5(IDUA):c.956C>A (p.Ala319Glu)
|
rs781534097
|
|
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_000208.4(INSR):c.1573C>T (p.Arg525Ter)
|
rs1599937180
|
|
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_000262.3(NAGA):c.16+1G>A
|
|
|
NM_000262.3(NAGA):c.322_324+9del
|
|
|
NM_000262.3(NAGA):c.324+1G>C
|
|
|
NM_000262.3(NAGA):c.598-1G>A
|
|
|
NM_000262.3(NAGA):c.606C>A (p.Tyr202Ter)
|
rs779423223
|
|
NM_000262.3(NAGA):c.759+1_759+8del
|
rs768761898
|
|
NM_000262.3(NAGA):c.949_957+8del
|
|
|
NM_000263.4(NAGLU):c.1000G>T (p.Val334Phe)
|
rs749140168
|
|
NM_000263.4(NAGLU):c.1004A>C (p.Tyr335Ser)
|
rs768918822
|
|
NM_000263.4(NAGLU):c.1006G>T (p.Glu336Ter)
|
rs376090795
|
|
NM_000263.4(NAGLU):c.103C>T (p.Leu35Phe)
|
rs2143075651
|
|
NM_000263.4(NAGLU):c.1063del (p.Gln355fs)
|
rs1180591588
|
|
NM_000263.4(NAGLU):c.1082G>T (p.Trp361Leu)
|
rs753454744
|
|
NM_000263.4(NAGLU):c.1093C>T (p.Gln365Ter)
|
rs1555622242
|
|
NM_000263.4(NAGLU):c.1112del (p.Gly371fs)
|
rs1555622250
|
|
NM_000263.4(NAGLU):c.112C>T (p.Arg38Trp)
|
|
|
NM_000263.4(NAGLU):c.1144G>T (p.Asp382Tyr)
|
rs1599260473
|
|
NM_000263.4(NAGLU):c.1172A>G (p.Tyr391Cys)
|
|
|
NM_000263.4(NAGLU):c.1207A>T (p.Ile403Phe)
|
|
|
NM_000263.4(NAGLU):c.1224C>A (p.His408Gln)
|
|
|
NM_000263.4(NAGLU):c.1277G>C (p.Gly426Ala)
|
rs771151036
|
|
NM_000263.4(NAGLU):c.1313T>G (p.Met438Arg)
|
rs1567893399
|
|
NM_000263.4(NAGLU):c.1364A>C (p.Tyr455Ser)
|
|
|
NM_000263.4(NAGLU):c.13_16del (p.Ala5fs)
|
rs1555621402
|
|
NM_000263.4(NAGLU):c.1421G>A (p.Trp474Ter)
|
rs1555622351
|
|
NM_000263.4(NAGLU):c.1425del (p.Thr476fs)
|
rs1250949842
|
|
NM_000263.4(NAGLU):c.1438_1447del (p.Ala480fs)
|
rs1555622354
|
|
NM_000263.4(NAGLU):c.1445G>A (p.Arg482Gln)
|
rs200909691
|
|
NM_000263.4(NAGLU):c.1463dup (p.Asp489fs)
|
rs1396150639
|
|
NM_000263.4(NAGLU):c.1649T>C (p.Leu550Pro)
|
|
|
NM_000263.4(NAGLU):c.1674C>G (p.Tyr558Ter)
|
rs762031686
|
|
NM_000263.4(NAGLU):c.1675G>A (p.Asp559Asn)
|
rs767510451
|
|
NM_000263.4(NAGLU):c.1681C>G (p.Leu561Val)
|
|
|
NM_000263.4(NAGLU):c.1682T>C (p.Leu561Pro)
|
rs2092928624
|
|
NM_000263.4(NAGLU):c.1694G>C (p.Arg565Pro)
|
rs104894598
|
|
NM_000263.4(NAGLU):c.1705C>T (p.Gln569Ter)
|
rs1555622441
|
|
NM_000263.4(NAGLU):c.1708G>T (p.Glu570Ter)
|
rs1555622443
|
|
NM_000263.4(NAGLU):c.1744G>C (p.Ala582Pro)
|
rs144238669
|
|
NM_000263.4(NAGLU):c.1810C>T (p.Pro604Ser)
|
rs1347224658
|
|
NM_000263.4(NAGLU):c.1863G>A (p.Trp621Ter)
|
rs1555622488
|
|
NM_000263.4(NAGLU):c.1893_1903del (p.Glu632fs)
|
rs1555622505
|
|
NM_000263.4(NAGLU):c.1915G>T (p.Glu639Ter)
|
rs555145190
|
|
NM_000263.4(NAGLU):c.1932C>G (p.Tyr644Ter)
|
rs1555622533
|
|
NM_000263.4(NAGLU):c.193del (p.Tyr65fs)
|
rs1555621432
|
|
NM_000263.4(NAGLU):c.1946G>C (p.Trp649Ser)
|
|
|
NM_000263.4(NAGLU):c.1978A>G (p.Asn660Asp)
|
|
|
NM_000263.4(NAGLU):c.1995del (p.Leu666fs)
|
rs1555622545
|
|
NM_000263.4(NAGLU):c.2021G>T (p.Arg674Leu)
|
|
|
NM_000263.4(NAGLU):c.2044C>G (p.Leu682Val)
|
rs1567894363
|
|
NM_000263.4(NAGLU):c.2053_2054del (p.Ser685fs)
|
rs1555622559
|
|
NM_000263.4(NAGLU):c.2062C>T (p.Gln688Ter)
|
rs1195831432
|
|
NM_000263.4(NAGLU):c.2113G>A (p.Glu705Lys)
|
rs1364203992
|
|
NM_000263.4(NAGLU):c.2171_2172del (p.Val724fs)
|
rs2143116788
|
|
NM_000263.4(NAGLU):c.219_237del (p.Arg74fs)
|
rs1431589133
|
|
NM_000263.4(NAGLU):c.220dup (p.Arg74fs)
|
rs1555621448
|
|
NM_000263.4(NAGLU):c.229_236del (p.Val77fs)
|
rs2143076634
|
|
NM_000263.4(NAGLU):c.230T>G (p.Val77Gly)
|
rs1599253805
|
|
NM_000263.4(NAGLU):c.235G>A (p.Gly79Ser)
|
|
|
NM_000263.4(NAGLU):c.236G>A (p.Gly79Asp)
|
|
|
NM_000263.4(NAGLU):c.291T>G (p.Cys97Trp)
|
rs2092906798
|
|
NM_000263.4(NAGLU):c.2T>C (p.Met1Thr)
|
rs1013345784
|
|
NM_000263.4(NAGLU):c.309G>A (p.Trp103Ter)
|
rs1567890328
|
|
NM_000263.4(NAGLU):c.343C>T (p.Pro115Ser)
|
rs758785463
|
|
NM_000263.4(NAGLU):c.344C>T (p.Pro115Leu)
|
rs1379877908
|
|
NM_000263.4(NAGLU):c.381C>G (p.Asn127Lys)
|
rs965226394
|
|
NM_000263.4(NAGLU):c.384-3C>A
|
rs1216280532
|
|
NM_000263.4(NAGLU):c.388C>T (p.Arg130Cys)
|
|
|
NM_000263.4(NAGLU):c.397del (p.Gln133fs)
|
|
|
NM_000263.4(NAGLU):c.418T>C (p.Tyr140His)
|
|
|
NM_000263.4(NAGLU):c.419A>C (p.Tyr140Ser)
|
|
|
NM_000263.4(NAGLU):c.431G>A (p.Trp144Ter)
|
|
|
NM_000263.4(NAGLU):c.434G>A (p.Trp145Ter)
|
rs2092909726
|
|
NM_000263.4(NAGLU):c.457G>A (p.Glu153Lys)
|
rs1352416909
|
|
NM_000263.4(NAGLU):c.459G>C (p.Glu153Asp)
|
rs746876753
|
|
NM_000263.4(NAGLU):c.461T>C (p.Ile154Thr)
|
|
|
NM_000263.4(NAGLU):c.461T>G (p.Ile154Arg)
|
rs770684838
|
|
NM_000263.4(NAGLU):c.482G>A (p.Gly161Asp)
|
|
|
NM_000263.4(NAGLU):c.49_73dup (p.Glu25fs)
|
rs2092905845
|
|
NM_000263.4(NAGLU):c.4G>T (p.Glu2Ter)
|
rs1555621397
|
|
NM_000263.4(NAGLU):c.531+1G>A
|
rs1245939928
|
|
NM_000263.4(NAGLU):c.532-1G>A
|
rs2143086378
|
|
NM_000263.4(NAGLU):c.532-1G>C
|
rs2143086378
|
|
NM_000263.4(NAGLU):c.534_535del (p.Tyr179fs)
|
rs1567891258
|
|
NM_000263.4(NAGLU):c.587C>T (p.Pro196Leu)
|
rs1599255987
|
|
NM_000263.4(NAGLU):c.629G>A (p.Trp210Ter)
|
rs2092912895
|
|
NM_000263.4(NAGLU):c.638C>T (p.Pro213Leu)
|
|
|
NM_000263.4(NAGLU):c.676C>T (p.Gln226Ter)
|
|
|
NM_000263.4(NAGLU):c.680A>C (p.His227Pro)
|
rs747155746
|
|
NM_000263.4(NAGLU):c.700C>G (p.Arg234Gly)
|
rs104894601
|
|
NM_000263.4(NAGLU):c.701G>T (p.Arg234Leu)
|
rs886042073
|
|
NM_000263.4(NAGLU):c.739G>T (p.Gly247Trp)
|
|
|
NM_000263.4(NAGLU):c.764+2T>C
|
|
|
NM_000263.4(NAGLU):c.798_805del (p.Ser267fs)
|
rs1555622000
|
|
NM_000263.4(NAGLU):c.809del (p.His270fs)
|
rs1555622002
|
|
NM_000263.4(NAGLU):c.82_87delinsTGTATAAGAGACA (p.Glu28fs)
|
|
|
NM_000263.4(NAGLU):c.82del (p.Glu28fs)
|
rs1430122594
|
|
NM_000263.4(NAGLU):c.833C>T (p.Ser278Phe)
|
|
|
NM_000263.4(NAGLU):c.838_841del (p.Leu280fs)
|
rs756865833
|
|
NM_000263.4(NAGLU):c.867del (p.Ile290fs)
|
rs1555622019
|
|
NM_000263.4(NAGLU):c.875G>A (p.Gly292Glu)
|
rs1209988199
|
|
NM_000263.4(NAGLU):c.911G>T (p.Gly304Val)
|
rs1599258487
|
|
NM_000263.4(NAGLU):c.925T>C (p.Tyr309His)
|
rs2143099180
|
|
NM_000263.4(NAGLU):c.926A>T (p.Tyr309Phe)
|
rs1305299665
|
|
NM_000263.4(NAGLU):c.934G>C (p.Asp312His)
|
|
|
NM_000263.4(NAGLU):c.935A>C (p.Asp312Ala)
|
|
|
NM_000263.4(NAGLU):c.940T>G (p.Phe314Val)
|
rs104894600
|
|
NM_000263.4(NAGLU):c.941T>C (p.Phe314Ser)
|
rs1181487342
|
|
NM_000284.4(PDHA1):c.1045G>A (p.Ala349Thr)
|
rs886044701
|
|
NM_000284.4(PDHA1):c.1050_1133dup (p.Gln351_Arg378dup)
|
rs1555935486
|
|
NM_000284.4(PDHA1):c.1060A>C (p.Thr354Pro)
|
rs1157736285
|
|
NM_000284.4(PDHA1):c.1098C>A (p.Tyr366Ter)
|
rs2063246734
|
|
NM_000284.4(PDHA1):c.1136G>T (p.Gly379Val)
|
rs2147189334
|
|
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs)
|
rs606231189
|
|
NM_000284.4(PDHA1):c.1158_1159insCAGTGGATCAAGTTTA (p.Lys387fs)
|
|
|
NM_000284.4(PDHA1):c.195dup (p.Arg66fs)
|
|
|
NM_000284.4(PDHA1):c.214C>T (p.Arg72Cys)
|
rs863224148
|
|
NM_000284.4(PDHA1):c.291+1_418+1dup
|
|
|
NM_000284.4(PDHA1):c.300_301dup (p.Cys101fs)
|
rs1569190422
|
|
NM_000284.4(PDHA1):c.355C>T (p.Arg119Trp)
|
rs2147176072
|
|
NM_000284.4(PDHA1):c.379C>T (p.Arg127Trp)
|
rs199959402
|
|
NM_000284.4(PDHA1):c.383G>A (p.Gly128Asp)
|
|
|
NM_000284.4(PDHA1):c.455C>T (p.Ser152Leu)
|
rs1555933954
|
|
NM_000284.4(PDHA1):c.461A>G (p.His154Arg)
|
rs1131692230
|
|
NM_000284.4(PDHA1):c.465G>T (p.Met155Ile)
|
|
|
NM_000284.4(PDHA1):c.46del (p.Ser16fs)
|
rs2147168716
|
|
NM_000284.4(PDHA1):c.491A>G (p.Asn164Ser)
|
rs1555933963
|
|
NM_000284.4(PDHA1):c.511G>A (p.Val171Met)
|
|
|
NM_000284.4(PDHA1):c.518T>C (p.Leu173Pro)
|
|
|
NM_000284.4(PDHA1):c.536T>G (p.Leu179Arg)
|
rs1555934165
|
|
NM_000284.4(PDHA1):c.57+2531T>C
|
rs2063135938
|
|
NM_000284.4(PDHA1):c.615C>G (p.Phe205Leu)
|
rs137853254
|
|
NM_000284.4(PDHA1):c.624C>A (p.Tyr208Ter)
|
rs2147180742
|
|
NM_000284.4(PDHA1):c.640T>G (p.Trp214Gly)
|
|
|
NM_000284.4(PDHA1):c.679T>C (p.Tyr227His)
|
rs2147180839
|
|
NM_000284.4(PDHA1):c.685A>T (p.Met229Leu)
|
rs2147180851
|
|
NM_000284.4(PDHA1):c.692C>G (p.Thr231Arg)
|
rs1272572107
|
|
NM_000284.4(PDHA1):c.692C>T (p.Thr231Met)
|
|
|
NM_000284.4(PDHA1):c.749C>T (p.Pro250Leu)
|
rs1602227679
|
|
NM_000284.4(PDHA1):c.766G>A (p.Gly256Arg)
|
|
|
NM_000284.4(PDHA1):c.788G>T (p.Arg263Leu)
|
|
|
NM_000284.4(PDHA1):c.791_792del (p.Glu264fs)
|
rs1569191879
|
|
NM_000284.4(PDHA1):c.868C>T (p.His290Tyr)
|
rs2147184502
|
|
NM_000284.4(PDHA1):c.896_899delTCAG (p.Ser300fs)
|
rs2147184540
|
|
NM_000284.4(PDHA1):c.899+2T>C
|
|
|
NM_000284.4(PDHA1):c.930AAG[3] (p.Arg311_Ser312insArg)
|
|
|
NM_000284.4(PDHA1):c.936_939del (p.Ser312fs)
|
rs863224153
|
|
NM_000284.4(PDHA1):c.989C>G (p.Ala330Gly)
|
|
|
NM_000289.6(PFKM):c.-8-2A>G
|
|
|
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.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.1459A>T (p.Lys487Ter)
|
|
|
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.1620_1625delinsGGGGG (p.Ala542fs)
|
|
|
NM_000289.6(PFKM):c.1653+2T>G
|
|
|
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.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.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.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_000292.3(PHKA2):c.1042-1G>A
|
rs2048391185
|
|
NM_000292.3(PHKA2):c.1137+2T>C
|
rs2147946477
|
|
NM_000292.3(PHKA2):c.1245G>T (p.Glu415Asp)
|
rs1601747985
|
|
NM_000292.3(PHKA2):c.128G>C (p.Trp43Ser)
|
rs1556016365
|
|
NM_000292.3(PHKA2):c.1325-1G>A
|
|
|
NM_000292.3(PHKA2):c.133C>T (p.Arg45Trp)
|
rs1601781031
|
|
NM_000292.3(PHKA2):c.134G>A (p.Arg45Gln)
|
rs1601781024
|
|
NM_000292.3(PHKA2):c.147C>A (p.Tyr49Ter)
|
rs768063119
|
|
NM_000292.3(PHKA2):c.1714+1G>A
|
rs1556002344
|
|
NM_000292.3(PHKA2):c.2249G>A (p.Trp750Ter)
|
|
|
NM_000292.3(PHKA2):c.2433dup (p.Gly812fs)
|
rs1555995635
|
|
NM_000292.3(PHKA2):c.2518-1G>A
|
rs2047834385
|
|
NM_000292.3(PHKA2):c.256C>T (p.Arg86Ter)
|
rs2147991282
|
|
NM_000292.3(PHKA2):c.2597+1G>A
|
rs1210626722
|
|
NM_000292.3(PHKA2):c.2746C>T (p.Arg916Trp)
|
rs1569297427
|
|
NM_000292.3(PHKA2):c.285+2_285+5del
|
rs2048714302
|
|
NM_000292.3(PHKA2):c.3112-2A>G
|
|
|
NM_000292.3(PHKA2):c.3210_3212del (p.Arg1072del)
|
rs1555989523
|
|
NM_000292.3(PHKA2):c.3283-1G>C
|
rs2047516641
|
|
NM_000292.3(PHKA2):c.3336+1dup
|
rs2047514376
|
|
NM_000292.3(PHKA2):c.3336+2T>A
|
rs1555988479
|
|
NM_000292.3(PHKA2):c.3341C>T (p.Thr1114Ile)
|
rs137852293
|
|
NM_000292.3(PHKA2):c.3383T>C (p.Leu1128Pro)
|
rs797044921
|
|
NM_000292.3(PHKA2):c.3629G>A (p.Gly1210Glu)
|
rs1601685358
|
|
NM_000292.3(PHKA2):c.3644_3646dup (p.Leu1215_Thr1216insIle)
|
rs2047467477
|
|
NM_000292.3(PHKA2):c.3645_3646dup (p.Thr1216fs)
|
rs2147799052
|
|
NM_000292.3(PHKA2):c.405_419delinsTCCTGGCC (p.Asp136fs)
|
rs1601776276
|
|
NM_000292.3(PHKA2):c.415T>C (p.Ser139Pro)
|
rs1556014969
|
|
NM_000292.3(PHKA2):c.556C>T (p.Arg186Cys)
|
rs137852294
|
|
NM_000292.3(PHKA2):c.557G>C (p.Arg186Pro)
|
rs137852290
|
|
NM_000292.3(PHKA2):c.559G>A (p.Gly187Arg)
|
rs2147972085
|
|
NM_000292.3(PHKA2):c.565A>G (p.Lys189Glu)
|
rs137852295
|
|
NM_000292.3(PHKA2):c.717+1G>A
|
|
|
NM_000292.3(PHKA2):c.884G>A (p.Arg295His)
|
rs797044877
|
|
NM_000292.3(PHKA2):c.884G>T (p.Arg295Leu)
|
rs797044877
|
|
NM_000292.3(PHKA2):c.892C>T (p.Arg298Ter)
|
|
|
NM_000292.3(PHKA2):c.919-1G>A
|
rs2147954328
|
|
NM_000292.3(PHKA2):c.919-2A>G
|
rs2147954334
|
|
NM_000293.3(PHKB):c.1126+1G>T
|
|
|
NM_000293.3(PHKB):c.1126+2T>C
|
|
|
NM_000293.3(PHKB):c.1204+1G>T
|
|
|
NM_000293.3(PHKB):c.1364-1G>A
|
|
|
NM_000293.3(PHKB):c.1609-2A>C
|
|
|
NM_000293.3(PHKB):c.1693-2A>G
|
|
|
NM_000293.3(PHKB):c.1797+1G>A
|
|
|
NM_000293.3(PHKB):c.1797+1G>C
|
rs777714363
|
|
NM_000293.3(PHKB):c.1969C>T (p.Gln657Ter)
|
rs34667348
|
|
NM_000293.3(PHKB):c.2273del (p.Lys758fs)
|
rs2151737344
|
|
NM_000293.3(PHKB):c.2278+1G>A
|
|
|
NM_000293.3(PHKB):c.2329_2336+5del
|
|
|
NM_000293.3(PHKB):c.2427+1052_2427+1083del
|
|
|
NM_000293.3(PHKB):c.2427+1G>A
|
|
|
NM_000293.3(PHKB):c.2895+1G>A
|
|
|
NM_000293.3(PHKB):c.3003+2T>C
|
|
|
NM_000293.3(PHKB):c.3004-2A>G
|
|
|
NM_000293.3(PHKB):c.305+2T>C
|
|
|
NM_000293.3(PHKB):c.405+1G>T
|
|
|
NM_000293.3(PHKB):c.513+2T>A
|
|
|
NM_000293.3(PHKB):c.595-1G>A
|
rs2151672494
|
|
NM_000293.3(PHKB):c.710+1G>T
|
|
|
NM_000293.3(PHKB):c.77-1G>A
|
|
|
NM_000293.3(PHKB):c.775-1G>A
|
|
|
NM_000293.3(PHKB):c.928G>T (p.Glu310Ter)
|
|
|
NM_000293.3(PHKB):c.951dup (p.Asp318Ter)
|
|
|
NM_000294.3(PHKG2):c.1070T>C (p.Leu357Pro)
|
rs762089284
|
|
NM_000294.3(PHKG2):c.229G>A (p.Glu77Lys)
|
rs2053339231
|
|
NM_000294.3(PHKG2):c.392+2T>G
|
|
|
NM_000294.3(PHKG2):c.393-2A>G
|
|
|
NM_000294.3(PHKG2):c.454C>T (p.Arg152Ter)
|
rs772912966
|
|
NM_000294.3(PHKG2):c.661G>A (p.Val221Met)
|
rs1596687577
|
|
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.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.224T>C (p.Leu75Pro)
|
rs2148218886
|
|
NM_000298.6(PKLR):c.391_393del (p.Ile131del)
|
rs886045351
|
|
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_000308.4(CTSA):c.1088+1G>A
|
|
|
NM_000308.4(CTSA):c.112del (p.Leu38fs)
|
rs1241378191
|
|
NM_000308.4(CTSA):c.1255-1G>A
|
|
|
NM_000308.4(CTSA):c.306+2T>A
|
|
|
NM_000308.4(CTSA):c.358-2A>G
|
|
|
NM_000308.4(CTSA):c.445-18_447del
|
rs1987030082
|
|
NM_000308.4(CTSA):c.445-1G>C
|
|
|
NM_000308.4(CTSA):c.521T>C (p.Leu174Pro)
|
rs2145815915
|
|
NM_000308.4(CTSA):c.601-2A>C
|
|
|
NM_000308.4(CTSA):c.948+13_954delinsAGA
|
|
|
NM_000340.2(SLC2A2):c.1246G>A (p.Gly416Ser)
|
rs1553785033
|
|
NM_000340.2(SLC2A2):c.1356dup (p.Cys453fs)
|
rs1350704340
|
|
NM_000340.2(SLC2A2):c.156_181dup (p.Ile61fs)
|
rs1447936042
|
|
NM_000340.2(SLC2A2):c.469G>C (p.Gly157Arg)
|
rs750836049
|
|
NM_000340.2(SLC2A2):c.496+2T>A
|
|
|
NM_000340.2(SLC2A2):c.589G>C (p.Val197Leu)
|
rs121909741
|
|
NM_000340.2(SLC2A2):c.59G>A (p.Gly20Asp)
|
|
|
NM_000340.2(SLC2A2):c.613-7T>G
|
rs2108244550
|
|
NM_000343.4(SLC5A1):c.1006C>T (p.Arg336Cys)
|
rs768831308
|
|
NM_000343.4(SLC5A1):c.1021+1G>A
|
rs2149492476
|
|
NM_000343.4(SLC5A1):c.1496G>A (p.Arg499His)
|
|
|
NM_000343.4(SLC5A1):c.226del (p.Ala76fs)
|
rs2149487756
|
|
NM_000343.4(SLC5A1):c.372+1_372+2insCTTATAT
|
rs764766115
|
|
NM_000343.4(SLC5A1):c.665-2A>G
|
|
|
NM_000352.6(ABCC8):c.1012-2A>G
|
rs1554938866
|
|
NM_000352.6(ABCC8):c.1040C>G (p.Ser347Ter)
|
|
|
NM_000352.6(ABCC8):c.1073T>A (p.Leu358Ter)
|
|
|
NM_000352.6(ABCC8):c.11C>T (p.Ala4Val)
|
rs2133738359
|
|
NM_000352.6(ABCC8):c.1209del (p.Thr404fs)
|
|
|
NM_000352.6(ABCC8):c.1243G>A (p.Gly415Arg)
|
rs1564955779
|
|
NM_000352.6(ABCC8):c.1290G>A (p.Trp430Ter)
|
|
|
NM_000352.6(ABCC8):c.1333-1013A>G
|
rs980458021
|
|
NM_000352.6(ABCC8):c.1347_1348del (p.Ile450fs)
|
rs1554933565
|
|
NM_000352.6(ABCC8):c.1467+1G>T
|
rs1554933415
|
|
NM_000352.6(ABCC8):c.1467+2T>C
|
rs1057517128
|
|
NM_000352.6(ABCC8):c.1468-2A>C
|
rs1057516946
|
|
NM_000352.6(ABCC8):c.148+2T>G
|
rs1554949176
|
|
NM_000352.6(ABCC8):c.149-1G>A
|
rs1554948445
|
|
NM_000352.6(ABCC8):c.1536C>G (p.Tyr512Ter)
|
rs765090096
|
|
NM_000352.6(ABCC8):c.1603_1604insA (p.Ala535fs)
|
rs1057516665
|
|
NM_000352.6(ABCC8):c.1616A>G (p.Tyr539Cys)
|
rs193922397
|
|
NM_000352.6(ABCC8):c.1630+1G>A
|
|
|
NM_000352.6(ABCC8):c.1647del (p.Ile550fs)
|
rs2133554613
|
|
NM_000352.6(ABCC8):c.1817+1G>T
|
rs1554926476
|
|
NM_000352.6(ABCC8):c.1817+2T>C
|
|
|
NM_000352.6(ABCC8):c.1817+2_1817+6del
|
rs1554926465
|
|
NM_000352.6(ABCC8):c.1858del (p.Arg620fs)
|
|
|
NM_000352.6(ABCC8):c.1879del (p.His627fs)
|
rs764613146
|
|
NM_000352.6(ABCC8):c.1895_1913delinsTT (p.Gln632fs)
|
|
|
NM_000352.6(ABCC8):c.1945A>T (p.Lys649Ter)
|
|
|
NM_000352.6(ABCC8):c.1973del (p.Gly658fs)
|
|
|
NM_000352.6(ABCC8):c.19G>C (p.Gly7Arg)
|
|
|
NM_000352.6(ABCC8):c.1del (p.Met1fs)
|
rs2133738442
|
|
NM_000352.6(ABCC8):c.2041-1G>A
|
rs1554924630
|
|
NM_000352.6(ABCC8):c.206del (p.Pro69fs)
|
|
|
NM_000352.6(ABCC8):c.2070del (p.Asp691fs)
|
|
|
NM_000352.6(ABCC8):c.2098_2099del (p.Thr700fs)
|
rs1057516542
|
|
NM_000352.6(ABCC8):c.2116+1G>A
|
rs1554924540
|
|
NM_000352.6(ABCC8):c.2116+1G>T
|
rs1554924540
|
|
NM_000352.6(ABCC8):c.2124_2127del (p.Leu708_Thr709insTer)
|
rs786204717
|
|
NM_000352.6(ABCC8):c.2143G>A (p.Val715Met)
|
rs1554924142
|
|
NM_000352.6(ABCC8):c.2169_2171del (p.Leu724del)
|
rs760520781
|
|
NM_000352.6(ABCC8):c.2171T>C (p.Leu724Pro)
|
rs1402090677
|
|
NM_000352.6(ABCC8):c.2222+1G>A
|
rs1554923999
|
|
NM_000352.6(ABCC8):c.2222+1G>T
|
rs1554923999
|
|
NM_000352.6(ABCC8):c.2255+2T>C
|
rs1057516589
|
|
NM_000352.6(ABCC8):c.2318C>A (p.Ser773Ter)
|
|
|
NM_000352.6(ABCC8):c.239T>G (p.Met80Arg)
|
rs797045208
|
|
NM_000352.6(ABCC8):c.2522G>A (p.Arg841Gln)
|
rs547150342
|
|
NM_000352.6(ABCC8):c.267del (p.Ile89fs)
|
rs2133728449
|
|
NM_000352.6(ABCC8):c.2683dup (p.His895fs)
|
rs1057517019
|
|
NM_000352.6(ABCC8):c.2693G>A (p.Trp898Ter)
|
rs1382448285
|
|
NM_000352.6(ABCC8):c.2694+1G>C
|
rs774574576
|
|
NM_000352.6(ABCC8):c.2835_2838del (p.Arg946fs)
|
rs1554913069
|
|
NM_000352.6(ABCC8):c.290+2T>C
|
rs1554948310
|
|
NM_000352.6(ABCC8):c.291-2A>G
|
rs786204695
|
|
NM_000352.6(ABCC8):c.3000C>A (p.Cys1000Ter)
|
rs192863214
|
|
NM_000352.6(ABCC8):c.3108G>A (p.Trp1036Ter)
|
rs1057516585
|
|
NM_000352.6(ABCC8):c.3124_3126delinsCAGCCAGGAACTG (p.Thr1042fs)
|
rs786204542
|
|
NM_000352.6(ABCC8):c.3126_3129delinsTC (p.Leu1043fs)
|
|
|
NM_000352.6(ABCC8):c.3130_3149del (p.Thr1044fs)
|
rs886041392
|
|
NM_000352.6(ABCC8):c.3151_3162+15del
|
rs1554912381
|
|
NM_000352.6(ABCC8):c.3264_3265insTTTTATAGAT (p.Gly1089fs)
|
|
|
NM_000352.6(ABCC8):c.3269_3270del (p.Leu1090fs)
|
|
|
NM_000352.6(ABCC8):c.326del (p.Pro109fs)
|
|
|
NM_000352.6(ABCC8):c.3346C>G (p.Pro1116Ala)
|
rs1564890766
|
|
NM_000352.6(ABCC8):c.3351dup (p.Gly1118fs)
|
|
|
NM_000352.6(ABCC8):c.338C>T (p.Ala113Val)
|
rs2133711315
|
|
NM_000352.6(ABCC8):c.3399+1G>A
|
rs1554911369
|
|
NM_000352.6(ABCC8):c.3400-1G>A
|
rs576684889
|
|
NM_000352.6(ABCC8):c.3440T>G (p.Leu1147Arg)
|
|
|
NM_000352.6(ABCC8):c.3447T>A (p.Cys1149Ter)
|
|
|
NM_000352.6(ABCC8):c.3448_3449del (p.Val1150fs)
|
rs1263082097
|
|
NM_000352.6(ABCC8):c.3454del (p.Ala1152fs)
|
|
|
NM_000352.6(ABCC8):c.3508_3509insA (p.Leu1170fs)
|
|
|
NM_000352.6(ABCC8):c.3525C>G (p.Tyr1175Ter)
|
rs1057516439
|
|
NM_000352.6(ABCC8):c.3551C>A (p.Ala1184Glu)
|
|
|
NM_000352.6(ABCC8):c.3553_3557dup (p.Arg1186fs)
|
rs1554910621
|
|
NM_000352.6(ABCC8):c.3557+1G>A
|
rs1554910610
|
|
NM_000352.6(ABCC8):c.3557+1G>T
|
rs1554910610
|
|
NM_000352.6(ABCC8):c.3557+1del
|
rs1554910616
|
|
NM_000352.6(ABCC8):c.3574del (p.Asp1192fs)
|
rs1057516317
|
|
NM_000352.6(ABCC8):c.3650+2T>A
|
rs1057517274
|
|
NM_000352.6(ABCC8):c.3673_3676del (p.Lys1225fs)
|
|
|
NM_000352.6(ABCC8):c.369_370dup (p.Tyr124fs)
|
rs1554946437
|
|
NM_000352.6(ABCC8):c.3733A>T (p.Arg1245Ter)
|
|
|
NM_000352.6(ABCC8):c.3753+1G>A
|
rs1554906786
|
|
NM_000352.6(ABCC8):c.3753+1G>T
|
|
|
NM_000352.6(ABCC8):c.3754-1G>A
|
rs1554906449
|
|
NM_000352.6(ABCC8):c.3754-2A>G
|
rs1554906450
|
|
NM_000352.6(ABCC8):c.3842del (p.Gly1281fs)
|
|
|
NM_000352.6(ABCC8):c.3881_3882del (p.Leu1294fs)
|
|
|
NM_000352.6(ABCC8):c.3919C>T (p.Gln1307Ter)
|
|
|
NM_000352.6(ABCC8):c.3921del (p.Gln1307fs)
|
|
|
NM_000352.6(ABCC8):c.3958del (p.Thr1320fs)
|
|
|
NM_000352.6(ABCC8):c.3995C>A (p.Ser1332Ter)
|
|
|
NM_000352.6(ABCC8):c.4021C>T (p.Gln1341Ter)
|
rs1057516718
|
|
NM_000352.6(ABCC8):c.4026_4027insC (p.Lys1343fs)
|
rs1554905787
|
|
NM_000352.6(ABCC8):c.4055G>C (p.Arg1352Pro)
|
rs28936370
|
|
NM_000352.6(ABCC8):c.4072_4073delinsT (p.Lys1358fs)
|
rs1057516890
|
|
NM_000352.6(ABCC8):c.4109C>T (p.Pro1370Leu)
|
rs1554905662
|
|
NM_000352.6(ABCC8):c.4119+1G>A
|
rs797045211
|
|
NM_000352.6(ABCC8):c.4119+1del
|
rs1057517050
|
|
NM_000352.6(ABCC8):c.4120-1G>T
|
rs1057517406
|
|
NM_000352.6(ABCC8):c.413-2A>G
|
rs1057517015
|
|
NM_000352.6(ABCC8):c.4146T>G (p.Ser1382Arg)
|
rs886039877
|
|
NM_000352.6(ABCC8):c.4153T>C (p.Ser1385Pro)
|
rs2133402479
|
|
NM_000352.6(ABCC8):c.415del (p.Leu139fs)
|
rs1057516591
|
|
NM_000352.6(ABCC8):c.4168G>C (p.Ala1390Pro)
|
|
|
NM_000352.6(ABCC8):c.4220_4221insACAGG (p.Asp1408fs)
|
|
|
NM_000352.6(ABCC8):c.4253G>A (p.Arg1418His)
|
rs1446306735
|
|
NM_000352.6(ABCC8):c.4258C>T (p.Arg1420Cys)
|
rs28938469
|
|
NM_000352.6(ABCC8):c.4259G>A (p.Arg1420His)
|
|
|
NM_000352.6(ABCC8):c.4265C>G (p.Ser1422Cys)
|
rs1554904936
|
|
NM_000352.6(ABCC8):c.4275_4291del (p.Asp1427fs)
|
rs1554904904
|
|
NM_000352.6(ABCC8):c.4288del (p.Leu1430fs)
|
rs2133400786
|
|
NM_000352.6(ABCC8):c.4322del (p.Pro1441fs)
|
rs758844607
|
|
NM_000352.6(ABCC8):c.4340_4362del (p.Asp1447fs)
|
rs1554904554
|
|
NM_000352.6(ABCC8):c.4353G>A (p.Trp1451Ter)
|
rs1057516404
|
|
NM_000352.6(ABCC8):c.4383_4384dup (p.Val1462fs)
|
|
|
NM_000352.6(ABCC8):c.4412-13G>A
|
rs1008906426
|
|
NM_000352.6(ABCC8):c.4412-2A>G
|
rs1554904136
|
|
NM_000352.6(ABCC8):c.4438A>G (p.Asn1480Asp)
|
rs1591705863
|
|
NM_000352.6(ABCC8):c.4451G>A (p.Gly1484Glu)
|
rs193922405
|
|
NM_000352.6(ABCC8):c.4451G>T (p.Gly1484Val)
|
rs193922405
|
|
NM_000352.6(ABCC8):c.4474del (p.Ala1492fs)
|
rs1057516655
|
|
NM_000352.6(ABCC8):c.4516_4536dup (p.Glu1506_Asp1512dup)
|
rs797045212
|
|
NM_000352.6(ABCC8):c.4532T>C (p.Ile1511Thr)
|
|
|
NM_000352.6(ABCC8):c.4545+2T>G
|
rs1554904006
|
|
NM_000352.6(ABCC8):c.45C>G (p.Tyr15Ter)
|
rs758231286
|
|
NM_000352.6(ABCC8):c.4612C>T (p.Arg1538Ter)
|
rs1411638309
|
|
NM_000352.6(ABCC8):c.4615G>A (p.Val1539Met)
|
rs193922408
|
|
NM_000352.6(ABCC8):c.4685del (p.Pro1562fs)
|
rs1554903370
|
|
NM_000352.6(ABCC8):c.480_481insAGATGTGTATAAGAGACAG (p.Ala161delinsArgCysValTer)
|
|
|
NM_000352.6(ABCC8):c.526dup (p.Val176fs)
|
rs1847952281
|
|
NM_000352.6(ABCC8):c.536_539del (p.Leu178_Tyr179insTer)
|
rs770664202
|
|
NM_000352.6(ABCC8):c.563A>G (p.Asn188Ser)
|
rs797045213
|
|
NM_000352.6(ABCC8):c.579+2T>A
|
rs1449198328
|
|
NM_000352.6(ABCC8):c.580-2A>G
|
|
|
NM_000352.6(ABCC8):c.61del (p.Val21fs)
|
rs2133737961
|
|
NM_000352.6(ABCC8):c.683G>A (p.Gly228Asp)
|
rs863225280
|
|
NM_000352.6(ABCC8):c.692G>A (p.Trp231Ter)
|
rs1057517139
|
|
NM_000352.6(ABCC8):c.698_699del (p.Met233fs)
|
|
|
NM_000352.6(ABCC8):c.707_708del (p.Phe236fs)
|
|
|
NM_000352.6(ABCC8):c.752_753del (p.Gly251fs)
|
|
|
NM_000352.6(ABCC8):c.771_772insGAAACCCA (p.Arg258fs)
|
|
|
NM_000352.6(ABCC8):c.795dup (p.Leu266fs)
|
rs1057516654
|
|
NM_000352.6(ABCC8):c.805del (p.Ala269fs)
|
rs1564976749
|
|
NM_000352.6(ABCC8):c.823-1G>A
|
rs1247430874
|
|
NM_000352.6(ABCC8):c.966del (p.Ile323fs)
|
|
|
NM_000352.6(ABCC8):c.992_993delinsTCTT (p.Asn331fs)
|
|
|
NM_000365.6(TPI1):c.544-1G>C
|
rs2138094606
|
|
NM_000402.4(G6PD):c.1054T>C (p.Tyr352His)
|
rs137852347
|
|
NM_000402.4(G6PD):c.1172C>T (p.Ala391Val)
|
rs137852345
|
|
NM_000402.4(G6PD):c.1179C>A (p.Asn393Lys)
|
rs137852329
|
|
NM_000402.4(G6PD):c.1246A>G (p.Lys416Glu)
|
rs137852320
|
|
NM_000402.4(G6PD):c.1270G>C (p.Val424Leu)
|
rs137852335
|
|
NM_000402.4(G6PD):c.1318G>T (p.Gly440Cys)
|
rs137852323
|
|
NM_000402.4(G6PD):c.1406G>C (p.Arg469Pro)
|
rs137852337
|
|
NM_000402.4(G6PD):c.1429G>A (p.Gly477Arg)
|
rs137852317
|
|
NM_000402.4(G6PD):c.1490C>G (p.Pro497Arg)
|
rs137852344
|
|
NM_000402.4(G6PD):c.1532C>G (p.Pro511Arg)
|
rs137852348
|
|
NM_000402.4(G6PD):c.482G>T (p.Gly161Val)
|
rs137852341
|
|
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser)
|
rs137852314
|
|
NM_000402.4(G6PD):c.683G>C (p.Arg228Pro)
|
rs137852332
|
|
NM_000402.4(G6PD):c.727G>T (p.Val243Leu)
|
rs137852326
|
|
NM_000402.4(G6PD):c.738T>G (p.Phe246Leu)
|
rs137852319
|
|
NM_000402.4(G6PD):c.7C>T (p.Arg3Trp)
|
|
|
NM_000402.4(G6PD):c.896G>A (p.Cys299Tyr)
|
rs137852346
|
|
NM_000404.4(GLB1):c.1009C>G (p.Leu337Val)
|
rs376034559
|
|
NM_000404.4(GLB1):c.1038G>C (p.Lys346Asn)
|
rs749980306
|
|
NM_000404.4(GLB1):c.1060A>G (p.Ile354Val)
|
|
|
NM_000404.4(GLB1):c.1144-2A>G
|
rs1553607014
|
|
NM_000404.4(GLB1):c.1174_1175del (p.Leu392fs)
|
rs398123348
|
|
NM_000404.4(GLB1):c.1188_1189delinsCT (p.Pro397Ser)
|
|
|
NM_000404.4(GLB1):c.1233+1G>A
|
rs1553606984
|
|
NM_000404.4(GLB1):c.1234-1G>T
|
|
|
NM_000404.4(GLB1):c.1256G>C (p.Arg419Pro)
|
|
|
NM_000404.4(GLB1):c.1258A>G (p.Thr420Ala)
|
rs200181401
|
|
NM_000404.4(GLB1):c.1347+1G>T
|
|
|
NM_000404.4(GLB1):c.1452C>G (p.Asn484Lys)
|
rs968221254
|
|
NM_000404.4(GLB1):c.1456_1466dup (p.Ile489fs)
|
rs398123349
|
|
NM_000404.4(GLB1):c.1468_1470del (p.Asn490del)
|
rs1215113920
|
|
NM_000404.4(GLB1):c.1479G>T (p.Lys493Asn)
|
rs1172435886
|
|
NM_000404.4(GLB1):c.148T>C (p.Tyr50His)
|
|
|
NM_000404.4(GLB1):c.1498A>T (p.Thr500Ser)
|
|
|
NM_000404.4(GLB1):c.1500_1503del (p.Leu501fs)
|
rs1553606130
|
|
NM_000404.4(GLB1):c.1510_1511insGA (p.Asn504fs)
|
rs1553606128
|
|
NM_000404.4(GLB1):c.151A>C (p.Ile51Leu)
|
|
|
NM_000404.4(GLB1):c.1609G>T (p.Glu537Ter)
|
rs1553606091
|
|
NM_000404.4(GLB1):c.160A>G (p.Ser54Gly)
|
|
|
NM_000404.4(GLB1):c.1634dup (p.Asn545fs)
|
rs754131566
|
|
NM_000404.4(GLB1):c.1645C>T (p.Pro549Ser)
|
rs2125463133
|
|
NM_000404.4(GLB1):c.1660G>A (p.Gly554Arg)
|
|
|
NM_000404.4(GLB1):c.1667T>C (p.Phe556Ser)
|
|
|
NM_000404.4(GLB1):c.1685dup (p.Asp564fs)
|
rs1697138071
|
|
NM_000404.4(GLB1):c.1714C>T (p.Gln572Ter)
|
rs1803200
|
|
NM_000404.4(GLB1):c.171C>G (p.Tyr57Ter)
|
rs398123350
|
|
NM_000404.4(GLB1):c.1739A>G (p.Gln580Arg)
|
rs2125442981
|
|
NM_000404.4(GLB1):c.1742T>G (p.Val581Gly)
|
|
|
NM_000404.4(GLB1):c.1768C>A (p.Arg590Ser)
|
rs794727165
|
|
NM_000404.4(GLB1):c.1768C>G (p.Arg590Gly)
|
|
|
NM_000404.4(GLB1):c.176G>T (p.Arg59Leu)
|
rs72555392
|
|
NM_000404.4(GLB1):c.1771T>C (p.Tyr591His)
|
|
|
NM_000404.4(GLB1):c.1772A>C (p.Tyr591Ser)
|
rs72555371
|
|
NM_000404.4(GLB1):c.191A>G (p.Tyr64Cys)
|
rs759483184
|
|
NM_000404.4(GLB1):c.2009_2010del (p.Lys670fs)
|
|
|
NM_000404.4(GLB1):c.202C>G (p.Arg68Gly)
|
rs72555370
|
|
NM_000404.4(GLB1):c.203G>T (p.Arg68Leu)
|
rs572237881
|
|
NM_000404.4(GLB1):c.245+1G>C
|
rs778423653
|
|
NM_000404.4(GLB1):c.253C>T (p.Pro85Ser)
|
|
|
NM_000404.4(GLB1):c.302del (p.Asp101fs)
|
rs1553612213
|
|
NM_000404.4(GLB1):c.319T>C (p.Phe107Leu)
|
rs397515616
|
|
NM_000404.4(GLB1):c.395T>C (p.Met132Thr)
|
rs1553612189
|
|
NM_000404.4(GLB1):c.396+2T>C
|
rs1057517738
|
|
NM_000404.4(GLB1):c.425_426del (p.Lys142fs)
|
rs1553612150
|
|
NM_000404.4(GLB1):c.433_437del (p.Ile145fs)
|
rs1553612145
|
|
NM_000404.4(GLB1):c.435TCT[1] (p.Leu147del)
|
rs751033858
|
|
NM_000404.4(GLB1):c.439C>T (p.Leu147Phe)
|
rs1553612143
|
|
NM_000404.4(GLB1):c.442C>A (p.Arg148Ser)
|
rs192732174
|
|
NM_000404.4(GLB1):c.442C>T (p.Arg148Cys)
|
rs192732174
|
|
NM_000404.4(GLB1):c.443G>T (p.Arg148Leu)
|
|
|
NM_000404.4(GLB1):c.457+2T>C
|
rs398123354
|
|
NM_000404.4(GLB1):c.517C>T (p.Leu173Phe)
|
|
|
NM_000404.4(GLB1):c.520T>G (p.Tyr174Asp)
|
|
|
NM_000404.4(GLB1):c.521A>C (p.Tyr174Ser)
|
rs2125543580
|
|
NM_000404.4(GLB1):c.523C>T (p.Gln175Ter)
|
rs1553611789
|
|
NM_000404.4(GLB1):c.552+2T>C
|
rs1553611778
|
|
NM_000404.4(GLB1):c.572G>C (p.Ser191Thr)
|
|
|
NM_000404.4(GLB1):c.572G>T (p.Ser191Ile)
|
|
|
NM_000404.4(GLB1):c.626del (p.His209fs)
|
rs1553611044
|
|
NM_000404.4(GLB1):c.645_648del (p.Val216fs)
|
rs1553611040
|
|
NM_000404.4(GLB1):c.65_75+1del
|
rs1382394474
|
|
NM_000404.4(GLB1):c.694dup (p.Ala232fs)
|
rs1553611025
|
|
NM_000404.4(GLB1):c.733+1G>A
|
rs1041204916
|
|
NM_000404.4(GLB1):c.733+2T>C
|
rs1699291583
|
|
NM_000404.4(GLB1):c.733+2_733+4del
|
rs1553611016
|
|
NM_000404.4(GLB1):c.76-1G>T
|
|
|
NM_000404.4(GLB1):c.765G>C (p.Gln255His)
|
rs1553610553
|
|
NM_000404.4(GLB1):c.765G>T (p.Gln255His)
|
|
|
NM_000404.4(GLB1):c.769_792+13del
|
rs1282958432
|
|
NM_000404.4(GLB1):c.817_818delinsCT (p.Trp273Leu)
|
rs1559401428
|
|
NM_000404.4(GLB1):c.827A>C (p.His276Pro)
|
rs1559401406
|
|
NM_000404.4(GLB1):c.842A>G (p.His281Arg)
|
|
|
NM_000404.4(GLB1):c.915-1G>T
|
rs749020375
|
|
NM_000404.4(GLB1):c.915-2A>G
|
|
|
NM_000404.4(GLB1):c.932G>A (p.Gly311Glu)
|
|
|
NM_000404.4(GLB1):c.937A>G (p.Asn313Asp)
|
|
|
NM_000404.4(GLB1):c.947A>G (p.Tyr316Cys)
|
rs72555361
|
|
NM_000404.4(GLB1):c.955+2T>G
|
rs746883447
|
|
NM_000404.4(GLB1):c.971A>C (p.Tyr324Ser)
|
|
|
NM_000404.4(GLB1):c.971A>G (p.Tyr324Cys)
|
rs977975596
|
|
NM_000404.4(GLB1):c.998A>G (p.Tyr333Cys)
|
rs370107958
|
|
NM_000411.8(HLCS):c.1681dup
|
|
|
NM_000434.4(NEU1):c.1004C>A (p.Pro335Gln)
|
|
|
NM_000434.4(NEU1):c.1021C>G (p.Arg341Gly)
|
|
|
NM_000434.4(NEU1):c.1021C>T (p.Arg341Ter)
|
rs751458617
|
|
NM_000434.4(NEU1):c.163C>T (p.Gln55Ter)
|
|
|
NM_000434.4(NEU1):c.887A>G (p.Tyr296Cys)
|
rs2151544199
|
|
NM_000434.4(NEU1):c.947del (p.Pro316fs)
|
rs2151544098
|
|
NM_000434.4(NEU1):c.[353-11A>G];[541T>C]
|
|
|
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.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.372G>T (p.Met124Ile)
|
|
|
NM_000458.4(HNF1B):c.395A>C (p.His132Pro)
|
|
|
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.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.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.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.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>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_000507.4(FBP1):c.170+4A>G
|
|
|
NM_000507.4(FBP1):c.349T>C (p.Cys117Arg)
|
rs1563983269
|
|
NM_000507.4(FBP1):c.426+1G>T
|
rs1563983184
|
|
NM_000507.4(FBP1):c.427-2A>G
|
|
|
NM_000507.4(FBP1):c.611_614del (p.Lys204fs)
|
rs761470205
|
|
NM_000507.4(FBP1):c.639C>A (p.Asn213Lys)
|
|
|
NM_000507.4(FBP1):c.704del (p.Pro235fs)
|
rs774362519
|
|
NM_000507.4(FBP1):c.841G>A (p.Glu281Lys)
|
rs566453434
|
|
NM_000507.4(FBP1):c.881G>T (p.Gly294Val)
|
|
|
NM_000507.4(FBP1):c.986T>C (p.Leu329Pro)
|
rs1248299502
|
|
NM_000512.5(GALNS):c.1003-1570G>T
|
rs2142996885
|
|
NM_000512.5(GALNS):c.1003-2A>C
|
rs1344555845
|
|
NM_000512.5(GALNS):c.1009del (p.His337fs)
|
rs2142995881
|
|
NM_000512.5(GALNS):c.1018G>A (p.Gly340Ser)
|
|
|
NM_000512.5(GALNS):c.1019G>A (p.Gly340Asp)
|
rs267606838
|
|
NM_000512.5(GALNS):c.1021A>C (p.Ser341Arg)
|
|
|
NM_000512.5(GALNS):c.1023C>G (p.Ser341Arg)
|
rs2142995871
|
|
NM_000512.5(GALNS):c.1046del (p.Ser349fs)
|
rs2142995845
|
|
NM_000512.5(GALNS):c.1049T>C (p.Leu350Pro)
|
rs1910973930
|
|
NM_000512.5(GALNS):c.1070del (p.Pro357fs)
|
rs2142995810
|
|
NM_000512.5(GALNS):c.1142C>G (p.Pro381Arg)
|
rs2142993896
|
|
NM_000512.5(GALNS):c.1155C>A (p.Tyr385Ter)
|
rs1426905479
|
|
NM_000512.5(GALNS):c.116A>G (p.Asp39Gly)
|
rs1967935882
|
|
NM_000512.5(GALNS):c.1173GGC[1] (p.Ala393del)
|
rs1567519221
|
|
NM_000512.5(GALNS):c.1188del (p.Gln397fs)
|
rs2142993827
|
|
NM_000512.5(GALNS):c.118G>A (p.Asp40Asn)
|
rs1967935603
|
|
NM_000512.5(GALNS):c.1196A>C (p.Lys399Thr)
|
rs1267791852
|
|
NM_000512.5(GALNS):c.1196del (p.Lys399fs)
|
rs2142993816
|
|
NM_000512.5(GALNS):c.121-1G>C
|
rs1312522259
|
|
NM_000512.5(GALNS):c.121-7C>G
|
rs1004936255
|
|
NM_000512.5(GALNS):c.1214G>A (p.Trp405Ter)
|
rs2142993795
|
|
NM_000512.5(GALNS):c.1215G>A (p.Trp405Ter)
|
rs2142993793
|
|
NM_000512.5(GALNS):c.122T>A (p.Met41Lys)
|
rs1555523411
|
|
NM_000512.5(GALNS):c.1242+1G>C
|
|
|
NM_000512.5(GALNS):c.1242+1G>T
|
rs2142993764
|
|
NM_000512.5(GALNS):c.1243-1G>A
|
rs1597535277
|
|
NM_000512.5(GALNS):c.1243-1G>C
|
rs1597535277
|
|
NM_000512.5(GALNS):c.1243-2A>C
|
rs2142992422
|
|
NM_000512.5(GALNS):c.1259C>G (p.Pro420Arg)
|
rs752937387
|
|
NM_000512.5(GALNS):c.1275del (p.Val427fs)
|
rs2142992383
|
|
NM_000512.5(GALNS):c.1290_1291del (p.His430fs)
|
rs2142992359
|
|
NM_000512.5(GALNS):c.1355dup (p.Leu454fs)
|
rs1472489567
|
|
NM_000512.5(GALNS):c.1364+2_1364+15del
|
|
|
NM_000512.5(GALNS):c.1365-1G>A
|
rs1909832718
|
|
NM_000512.5(GALNS):c.1365-2A>G
|
|
|
NM_000512.5(GALNS):c.1374dup (p.Ala459fs)
|
|
|
NM_000512.5(GALNS):c.1387G>T (p.Glu463Ter)
|
|
|
NM_000512.5(GALNS):c.143T>G (p.Val48Gly)
|
rs191519947
|
|
NM_000512.5(GALNS):c.1447C>T (p.Gln483Ter)
|
rs2142982313
|
|
NM_000512.5(GALNS):c.1450C>T (p.Pro484Ser)
|
rs1204485789
|
|
NM_000512.5(GALNS):c.1474G>A (p.Ala492Thr)
|
rs760300454
|
|
NM_000512.5(GALNS):c.1483-2A>C
|
|
|
NM_000512.5(GALNS):c.1483-2A>G
|
rs2142967340
|
|
NM_000512.5(GALNS):c.1487G>C (p.Trp496Ser)
|
|
|
NM_000512.5(GALNS):c.1493C>T (p.Pro498Leu)
|
rs1597515555
|
|
NM_000512.5(GALNS):c.1502G>A (p.Cys501Tyr)
|
rs948490589
|
|
NM_000512.5(GALNS):c.1502G>C (p.Cys501Ser)
|
rs948490589
|
|
NM_000512.5(GALNS):c.1507_1508del (p.Lys503fs)
|
rs753053516
|
|
NM_000512.5(GALNS):c.151G>A (p.Glu51Lys)
|
rs1296755011
|
|
NM_000512.5(GALNS):c.155C>T (p.Pro52Leu)
|
rs2143005523
|
|
NM_000512.5(GALNS):c.1567T>G (p.Ter523Glu)
|
rs1348149236
|
|
NM_000512.5(GALNS):c.181C>G (p.Arg61Gly)
|
rs145798311
|
|
NM_000512.5(GALNS):c.185T>G (p.Met62Arg)
|
|
|
NM_000512.5(GALNS):c.218A>G (p.Tyr73Cys)
|
rs398123435
|
|
NM_000512.5(GALNS):c.230C>G (p.Pro77Arg)
|
rs1422505598
|
|
NM_000512.5(GALNS):c.230C>T (p.Pro77Leu)
|
|
|
NM_000512.5(GALNS):c.236G>A (p.Cys79Tyr)
|
rs1263679818
|
|
NM_000512.5(GALNS):c.239C>T (p.Ser80Leu)
|
rs1209154325
|
|
NM_000512.5(GALNS):c.242C>T (p.Pro81Leu)
|
rs2143005457
|
|
NM_000512.5(GALNS):c.245-2A>G
|
rs1352162269
|
|
NM_000512.5(GALNS):c.265G>T (p.Gly89Ter)
|
rs1160480473
|
|
NM_000512.5(GALNS):c.280C>G (p.Arg94Gly)
|
rs118204441
|
|
NM_000512.5(GALNS):c.281G>T (p.Arg94Leu)
|
rs727503946
|
|
NM_000512.5(GALNS):c.285dup (p.Gly96fs)
|
|
|
NM_000512.5(GALNS):c.286G>T (p.Gly96Cys)
|
rs2143005086
|
|
NM_000512.5(GALNS):c.289T>G (p.Phe97Val)
|
rs2143005083
|
|
NM_000512.5(GALNS):c.313A>G (p.Arg105Gly)
|
rs2143005072
|
|
NM_000512.5(GALNS):c.319+2T>C
|
rs2143005067
|
|
NM_000512.5(GALNS):c.337A>G (p.Ile113Val)
|
|
|
NM_000512.5(GALNS):c.347G>T (p.Gly116Val)
|
rs1966945369
|
|
NM_000512.5(GALNS):c.34C>T (p.Gln12Ter)
|
rs911452920
|
|
NM_000512.5(GALNS):c.373C>T (p.Pro125Ser)
|
|
|
NM_000512.5(GALNS):c.374C>A (p.Pro125Gln)
|
rs746949976
|
|
NM_000512.5(GALNS):c.374C>T (p.Pro125Leu)
|
rs746949976
|
|
NM_000512.5(GALNS):c.385A>T (p.Lys129Ter)
|
rs2143004624
|
|
NM_000512.5(GALNS):c.409_420del (p.Ile137_Lys140del)
|
rs2143004592
|
|
NM_000512.5(GALNS):c.409_422+5del
|
rs2143004580
|
|
NM_000512.5(GALNS):c.421T>A (p.Trp141Arg)
|
rs794727625
|
|
NM_000512.5(GALNS):c.422+1G>A
|
rs1966940003
|
|
NM_000512.5(GALNS):c.422+1G>T
|
rs1966940003
|
|
NM_000512.5(GALNS):c.422+2T>G
|
rs2143004585
|
|
NM_000512.5(GALNS):c.423-1G>A
|
rs2143002474
|
|
NM_000512.5(GALNS):c.423-862C>T
|
rs1597575641
|
|
NM_000512.5(GALNS):c.424_566+1del
|
rs2143002309
|
|
NM_000512.5(GALNS):c.425A>C (p.His142Pro)
|
rs1288895691
|
|
NM_000512.5(GALNS):c.425A>G (p.His142Arg)
|
rs1288895691
|
|
NM_000512.5(GALNS):c.425A>T (p.His142Leu)
|
rs1288895691
|
|
NM_000512.5(GALNS):c.426T>A (p.His142Gln)
|
rs754616917
|
|
NM_000512.5(GALNS):c.433C>T (p.His145Tyr)
|
rs577334837
|
|
NM_000512.5(GALNS):c.444_449del (p.Gln148_Phe149del)
|
rs2143002451
|
|
NM_000512.5(GALNS):c.448C>T (p.His150Tyr)
|
rs1168278189
|
|
NM_000512.5(GALNS):c.454del (p.Pro151_Leu152insTer)
|
|
|
NM_000512.5(GALNS):c.464G>A (p.Gly155Glu)
|
rs2143002437
|
|
NM_000512.5(GALNS):c.467T>G (p.Phe156Cys)
|
rs1301146300
|
|
NM_000512.5(GALNS):c.473_477del (p.Glu158fs)
|
rs2143002427
|
|
NM_000512.5(GALNS):c.47T>A (p.Val16Glu)
|
rs794729202
|
|
NM_000512.5(GALNS):c.489del (p.Asn164fs)
|
rs1328983959
|
|
NM_000512.5(GALNS):c.491A>C (p.Asn164Thr)
|
rs761725425
|
|
NM_000512.5(GALNS):c.494G>A (p.Cys165Tyr)
|
rs768757999
|
|
NM_000512.5(GALNS):c.499T>G (p.Phe167Val)
|
rs148565559
|
|
NM_000512.5(GALNS):c.501dup (p.Gly168fs)
|
rs2143002383
|
|
NM_000512.5(GALNS):c.502G>T (p.Gly168Ter)
|
rs775732598
|
|
NM_000512.5(GALNS):c.532_533del (p.Ile178fs)
|
rs2143002345
|
|
NM_000512.5(GALNS):c.542A>G (p.Tyr181Cys)
|
rs786205899
|
|
NM_000512.5(GALNS):c.547G>T (p.Asp183Tyr)
|
rs2143002331
|
|
NM_000512.5(GALNS):c.554del (p.Glu185fs)
|
rs2143002326
|
|
NM_000512.5(GALNS):c.562G>A (p.Gly188Ser)
|
rs2143002317
|
|
NM_000512.5(GALNS):c.566+1G>A
|
|
|
NM_000512.5(GALNS):c.569A>G (p.Tyr190Cys)
|
rs886042058
|
|
NM_000512.5(GALNS):c.571T>G (p.Tyr191Asp)
|
rs2143001744
|
|
NM_000512.5(GALNS):c.601G>A (p.Gly201Arg)
|
|
|
NM_000512.5(GALNS):c.611A>C (p.Asn204Thr)
|
rs569725936
|
|
NM_000512.5(GALNS):c.611A>G (p.Asn204Ser)
|
rs569725936
|
|
NM_000512.5(GALNS):c.612C>G (p.Asn204Lys)
|
rs118204435
|
|
NM_000512.5(GALNS):c.634-1G>A
|
rs2143001463
|
|
NM_000512.5(GALNS):c.634-1G>T
|
rs2143001463
|
|
NM_000512.5(GALNS):c.641T>G (p.Leu214Arg)
|
|
|
NM_000512.5(GALNS):c.648C>G (p.Phe216Leu)
|
rs2143001453
|
|
NM_000512.5(GALNS):c.658C>T (p.Gln220Ter)
|
rs1456807949
|
|
NM_000512.5(GALNS):c.675_676del (p.Phe227fs)
|
rs2143001422
|
|
NM_000512.5(GALNS):c.679T>G (p.Phe227Val)
|
rs2143001417
|
|
NM_000512.5(GALNS):c.680del (p.Phe227fs)
|
rs2143001415
|
|
NM_000512.5(GALNS):c.700G>A (p.Ala234Thr)
|
rs368603508
|
|
NM_000512.5(GALNS):c.700G>T (p.Ala234Ser)
|
|
|
NM_000512.5(GALNS):c.704C>A (p.Thr235Lys)
|
rs398123440
|
|
NM_000512.5(GALNS):c.707A>C (p.His236Pro)
|
rs398123441
|
|
NM_000512.5(GALNS):c.707A>G (p.His236Arg)
|
rs398123441
|
|
NM_000512.5(GALNS):c.716T>G (p.Val239Gly)
|
|
|
NM_000512.5(GALNS):c.751C>T (p.Arg251Ter)
|
rs1275386976
|
|
NM_000512.5(GALNS):c.759-2A>G
|
rs2143001213
|
|
NM_000512.5(GALNS):c.762T>A (p.Tyr254Ter)
|
rs770815269
|
|
NM_000512.5(GALNS):c.764G>C (p.Gly255Ala)
|
rs1912009292
|
|
NM_000512.5(GALNS):c.77dup (p.Ala27fs)
|
rs2143013573
|
|
NM_000512.5(GALNS):c.791G>A (p.Ser264Asn)
|
rs2143001182
|
|
NM_000512.5(GALNS):c.835del (p.Asp279fs)
|
|
|
NM_000512.5(GALNS):c.836ACA[1] (p.Asn280del)
|
rs1389218771
|
|
NM_000512.5(GALNS):c.850TTC[1] (p.Phe285del)
|
rs768664270
|
|
NM_000512.5(GALNS):c.851T>G (p.Phe284Cys)
|
|
|
NM_000512.5(GALNS):c.866A>G (p.Asn289Ser)
|
rs1465096387
|
|
NM_000512.5(GALNS):c.871G>T (p.Ala291Ser)
|
rs118204448
|
|
NM_000512.5(GALNS):c.892del (p.Glu298fs)
|
|
|
NM_000512.5(GALNS):c.895C>T (p.Gln299Ter)
|
rs2143001103
|
|
NM_000512.5(GALNS):c.899-2A>C
|
rs1165218506
|
|
NM_000512.5(GALNS):c.899-2A>G
|
rs1165218506
|
|
NM_000512.5(GALNS):c.902G>A (p.Gly301Asp)
|
rs776715466
|
|
NM_000512.5(GALNS):c.916T>G (p.Phe306Val)
|
rs2142999207
|
|
NM_000512.5(GALNS):c.920T>C (p.Leu307Pro)
|
rs2142999202
|
|
NM_000512.5(GALNS):c.934A>G (p.Thr312Ala)
|
rs2142999186
|
|
NM_000512.5(GALNS):c.951dup (p.Met318fs)
|
rs2142999166
|
|
NM_000512.5(GALNS):c.978G>A (p.Trp326Ter)
|
rs1911558912
|
|
NM_000512.5(GALNS):c.[1097T>C;451C>A]
|
|
|
NM_000512.5:c.(1242+1_1243-1)_(1364+1_1365-1)del
|
|
|
NM_000512.5:c.567_1002dup
|
|
|
NM_000525.4(KCNJ11):c.1064dup (p.Leu356fs)
|
rs1337406718
|
|
NM_000525.4(KCNJ11):c.112A>G (p.Lys38Glu)
|
|
|
NM_000525.4(KCNJ11):c.152_158del (p.Glu51fs)
|
rs1953591118
|
|
NM_000525.4(KCNJ11):c.154C>T (p.Gln52Ter)
|
rs879253757
|
|
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.365T>C (p.Leu122Pro)
|
rs1591695840
|
|
NM_000525.4(KCNJ11):c.405dup (p.Arg136fs)
|
rs557160758
|
|
NM_000525.4(KCNJ11):c.498C>A (p.Cys166Ter)
|
rs587783669
|
|
NM_000525.4(KCNJ11):c.617G>A (p.Arg206His)
|
rs1554901747
|
|
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_000525.4(KCNJ11):c.866G>C (p.Gly289Ala)
|
rs797045637
|
|
NM_000525.4(KCNJ11):c.866G>T (p.Gly289Val)
|
rs797045637
|
|
NM_000525.4(KCNJ11):c.868G>A (p.Val290Met)
|
rs750414160
|
|
NM_000528.4(MAN2B1):c.1026+2T>C
|
rs369099686
|
|
NM_000528.4(MAN2B1):c.1027-1G>C
|
|
|
NM_000528.4(MAN2B1):c.1027-2A>C
|
|
|
NM_000528.4(MAN2B1):c.1048dup (p.His350fs)
|
rs2145262260
|
|
NM_000528.4(MAN2B1):c.1055T>C (p.Leu352Pro)
|
rs864621980
|
|
NM_000528.4(MAN2B1):c.105_106del (p.Cys36fs)
|
rs2024251717
|
|
NM_000528.4(MAN2B1):c.1109+1G>C
|
rs2024027294
|
|
NM_000528.4(MAN2B1):c.1109G>A (p.Trp370Ter)
|
rs786204715
|
|
NM_000528.4(MAN2B1):c.1110-1G>A
|
|
|
NM_000528.4(MAN2B1):c.1110-1G>T
|
rs1599352199
|
|
NM_000528.4(MAN2B1):c.1110dup
|
|
|
NM_000528.4(MAN2B1):c.1139_1141delinsT (p.Tyr380fs)
|
|
|
NM_000528.4(MAN2B1):c.1144del (p.Asp382fs)
|
|
|
NM_000528.4(MAN2B1):c.1156del (p.Gln386fs)
|
|
|
NM_000528.4(MAN2B1):c.1163G>A (p.Trp388Ter)
|
rs1057516524
|
|
NM_000528.4(MAN2B1):c.119dup (p.Leu40fs)
|
|
|
NM_000528.4(MAN2B1):c.1223_1224delinsAA (p.Phe408Ter)
|
|
|
NM_000528.4(MAN2B1):c.1236C>A (p.Cys412Ter)
|
|
|
NM_000528.4(MAN2B1):c.1240C>T (p.Gln414Ter)
|
|
|
NM_000528.4(MAN2B1):c.1280_1296del (p.Pro427fs)
|
rs1057517408
|
|
NM_000528.4(MAN2B1):c.1284T>G (p.Tyr428Ter)
|
rs2024014272
|
|
NM_000528.4(MAN2B1):c.1309+1G>T
|
rs1057516745
|
|
NM_000528.4(MAN2B1):c.1310-1G>A
|
rs1555708156
|
|
NM_000528.4(MAN2B1):c.1358C>T (p.Ser453Phe)
|
rs864621984
|
|
NM_000528.4(MAN2B1):c.1360dup (p.Arg454fs)
|
|
|
NM_000528.4(MAN2B1):c.1363C>T (p.Gln455Ter)
|
rs2023996617
|
|
NM_000528.4(MAN2B1):c.1383C>G (p.Tyr461Ter)
|
rs775200333
|
|
NM_000528.4(MAN2B1):c.1390C>T (p.Gln464Ter)
|
rs1555708126
|
|
NM_000528.4(MAN2B1):c.1404dup (p.Trp469fs)
|
rs1599350640
|
|
NM_000528.4(MAN2B1):c.1406G>A (p.Trp469Ter)
|
rs2023994563
|
|
NM_000528.4(MAN2B1):c.1419+1G>T
|
|
|
NM_000528.4(MAN2B1):c.1419+2_1419+15del
|
rs2145256406
|
|
NM_000528.4(MAN2B1):c.1420-104_1449del
|
|
|
NM_000528.4(MAN2B1):c.1420-27_1420-3del
|
|
|
NM_000528.4(MAN2B1):c.1420-2A>G
|
rs2145254657
|
|
NM_000528.4(MAN2B1):c.1450A>T (p.Arg484Ter)
|
rs2023979174
|
|
NM_000528.4(MAN2B1):c.1454del (p.Gly485fs)
|
|
|
NM_000528.4(MAN2B1):c.1468_1472del (p.Phe490fs)
|
rs1057517316
|
|
NM_000528.4(MAN2B1):c.1483C>T (p.Gln495Ter)
|
rs755508725
|
|
NM_000528.4(MAN2B1):c.1503C>A (p.Cys501Ter)
|
rs886054230
|
|
NM_000528.4(MAN2B1):c.1516_1519del (p.Thr506fs)
|
rs1599349822
|
|
NM_000528.4(MAN2B1):c.1527+1G>A
|
|
|
NM_000528.4(MAN2B1):c.1527+1G>C
|
rs1322313985
|
|
NM_000528.4(MAN2B1):c.1528-1G>T
|
rs561991886
|
|
NM_000528.4(MAN2B1):c.1528-2A>G
|
|
|
NM_000528.4(MAN2B1):c.1545T>A (p.Tyr515Ter)
|
rs2023968144
|
|
NM_000528.4(MAN2B1):c.159+1G>A
|
rs1555710254
|
|
NM_000528.4(MAN2B1):c.159+2T>C
|
rs1057516501
|
|
NM_000528.4(MAN2B1):c.162del (p.Cys55fs)
|
rs2145290970
|
|
NM_000528.4(MAN2B1):c.1638del (p.Ser547fs)
|
|
|
NM_000528.4(MAN2B1):c.164G>T (p.Cys55Phe)
|
rs864621975
|
|
NM_000528.4(MAN2B1):c.1724_1734delinsA (p.Phe575fs)
|
|
|
NM_000528.4(MAN2B1):c.1736C>G (p.Ser579Ter)
|
rs2023939487
|
|
NM_000528.4(MAN2B1):c.1774_1783del (p.Ala592fs)
|
rs1057516459
|
|
NM_000528.4(MAN2B1):c.1795A>T (p.Arg599Ter)
|
|
|
NM_000528.4(MAN2B1):c.1795del (p.Arg599fs)
|
|
|
NM_000528.4(MAN2B1):c.1803G>A (p.Trp601Ter)
|
rs1224319934
|
|
NM_000528.4(MAN2B1):c.1851del (p.Pro618fs)
|
rs1057516289
|
|
NM_000528.4(MAN2B1):c.1859_1860del (p.Thr620fs)
|
|
|
NM_000528.4(MAN2B1):c.1889delinsCAC (p.Asn630fs)
|
|
|
NM_000528.4(MAN2B1):c.1915C>T (p.Gln639Ter)
|
rs121434332
|
|
NM_000528.4(MAN2B1):c.1928G>A (p.Trp643Ter)
|
rs1599344532
|
|
NM_000528.4(MAN2B1):c.1929-2A>G
|
rs2023856348
|
|
NM_000528.4(MAN2B1):c.1929-2A>T
|
|
|
NM_000528.4(MAN2B1):c.1954G>T (p.Glu652Ter)
|
rs756680048
|
|
NM_000528.4(MAN2B1):c.1963del (p.Gln655fs)
|
|
|
NM_000528.4(MAN2B1):c.1986_1987del (p.Phe662fs)
|
|
|
NM_000528.4(MAN2B1):c.1996C>T (p.Gln666Ter)
|
|
|
NM_000528.4(MAN2B1):c.1996_1999del (p.Gln666fs)
|
|
|
NM_000528.4(MAN2B1):c.2002A>T (p.Lys668Ter)
|
rs2023853280
|
|
NM_000528.4(MAN2B1):c.201_202insTGTACACATTT (p.Leu68fs)
|
|
|
NM_000528.4(MAN2B1):c.2025G>A (p.Trp675Ter)
|
rs2023852354
|
|
NM_000528.4(MAN2B1):c.2044A>T (p.Lys682Ter)
|
rs2023851530
|
|
NM_000528.4(MAN2B1):c.2046+1G>A
|
rs1555707087
|
|
NM_000528.4(MAN2B1):c.2046+1G>T
|
rs1555707087
|
|
NM_000528.4(MAN2B1):c.2047-1G>A
|
rs1057517166
|
|
NM_000528.4(MAN2B1):c.2071C>T (p.Gln691Ter)
|
rs2023809731
|
|
NM_000528.4(MAN2B1):c.2091T>A (p.Cys697Ter)
|
rs2023809176
|
|
NM_000528.4(MAN2B1):c.2114del (p.Pro705fs)
|
rs1555706774
|
|
NM_000528.4(MAN2B1):c.2126_2127del (p.His709fs)
|
|
|
NM_000528.4(MAN2B1):c.215A>T (p.His72Leu)
|
rs387906261
|
|
NM_000528.4(MAN2B1):c.2165+1del
|
rs1555706752
|
|
NM_000528.4(MAN2B1):c.2166-2A>G
|
rs2145232776
|
|
NM_000528.4(MAN2B1):c.2174G>A (p.Trp725Ter)
|
rs2023804275
|
|
NM_000528.4(MAN2B1):c.2176G>A (p.Gly726Arg)
|
|
|
NM_000528.4(MAN2B1):c.2199del (p.Phe733fs)
|
|
|
NM_000528.4(MAN2B1):c.2222del (p.Gly741fs)
|
|
|
NM_000528.4(MAN2B1):c.2248C>G (p.Arg750Gly)
|
rs80338680
|
|
NM_000528.4(MAN2B1):c.2268-1G>C
|
rs1555706596
|
|
NM_000528.4(MAN2B1):c.2268-2A>T
|
rs2023783146
|
|
NM_000528.4(MAN2B1):c.2294_2295del (p.Leu765fs)
|
|
|
NM_000528.4(MAN2B1):c.231G>A (p.Trp77Ter)
|
rs1555710070
|
|
NM_000528.4(MAN2B1):c.2355G>A (p.Thr785=)
|
rs1008745697
|
|
NM_000528.4(MAN2B1):c.2356-2A>G
|
rs1064793936
|
|
NM_000528.4(MAN2B1):c.2396del (p.Gln799fs)
|
|
|
NM_000528.4(MAN2B1):c.2398G>A (p.Gly800Arg)
|
rs398123456
|
|
NM_000528.4(MAN2B1):c.2398G>C (p.Gly800Arg)
|
rs398123456
|
|
NM_000528.4(MAN2B1):c.2402G>A (p.Gly801Asp)
|
rs864621994
|
|
NM_000528.4(MAN2B1):c.2402dup (p.Ser802fs)
|
rs797044680
|
|
NM_000528.4(MAN2B1):c.2436+1G>A
|
rs200036864
|
|
NM_000528.4(MAN2B1):c.2436+5G>A
|
|
|
NM_000528.4(MAN2B1):c.2437-300_2719del
|
|
|
NM_000528.4(MAN2B1):c.2445_2447delinsT (p.Arg816fs)
|
|
|
NM_000528.4(MAN2B1):c.247C>T (p.Gln83Ter)
|
rs2024217737
|
|
NM_000528.4(MAN2B1):c.2492_2499del (p.Glu831fs)
|
|
|
NM_000528.4(MAN2B1):c.2515C>T (p.Arg839Ter)
|
rs1291147781
|
|
NM_000528.4(MAN2B1):c.2544_2568dup (p.Arg857fs)
|
|
|
NM_000528.4(MAN2B1):c.2596del (p.Ala866fs)
|
|
|
NM_000528.4(MAN2B1):c.2600del (p.Pro867fs)
|
|
|
NM_000528.4(MAN2B1):c.2602_2612del (p.Gln868fs)
|
|
|
NM_000528.4(MAN2B1):c.2607_2608insTATAAGAGACAGT (p.Val870fs)
|
|
|
NM_000528.4(MAN2B1):c.262+2T>C
|
|
|
NM_000528.4(MAN2B1):c.263-1G>A
|
|
|
NM_000528.4(MAN2B1):c.263-2A>C
|
|
|
NM_000528.4(MAN2B1):c.2636_2637insTCCCAACT (p.Asn880fs)
|
|
|
NM_000528.4(MAN2B1):c.2665-1G>C
|
rs1555706185
|
|
NM_000528.4(MAN2B1):c.2665-2A>G
|
|
|
NM_000528.4(MAN2B1):c.2696C>A (p.Ser899Ter)
|
rs767323371
|
|
NM_000528.4(MAN2B1):c.2723G>A (p.Trp908Ter)
|
rs368224056
|
|
NM_000528.4(MAN2B1):c.2731G>T (p.Glu911Ter)
|
rs139366493
|
|
NM_000528.4(MAN2B1):c.2744T>C (p.Leu915Pro)
|
rs1555706137
|
|
NM_000528.4(MAN2B1):c.2747G>A (p.Arg916His)
|
rs758765126
|
|
NM_000528.4(MAN2B1):c.2752G>T (p.Glu918Ter)
|
rs2023718817
|
|
NM_000528.4(MAN2B1):c.2758C>T (p.Gln920Ter)
|
|
|
NM_000528.4(MAN2B1):c.2778_2781dup (p.Gly928fs)
|
|
|
NM_000528.4(MAN2B1):c.277C>T (p.Gln93Ter)
|
rs1057516325
|
|
NM_000528.4(MAN2B1):c.2802dup (p.Val935fs)
|
rs1057516864
|
|
NM_000528.4(MAN2B1):c.2821-2A>G
|
|
|
NM_000528.4(MAN2B1):c.2887_2902del (p.Glu963fs)
|
rs2023710111
|
|
NM_000528.4(MAN2B1):c.2917_2923+1dup
|
|
|
NM_000528.4(MAN2B1):c.2921_2922del (p.Thr974fs)
|
rs1555705992
|
|
NM_000528.4(MAN2B1):c.2922del (p.Gly975fs)
|
rs1057516897
|
|
NM_000528.4(MAN2B1):c.292C>T (p.Gln98Ter)
|
rs2024210372
|
|
NM_000528.4(MAN2B1):c.2999T>C (p.Phe1000Ser)
|
rs864621991
|
|
NM_000528.4(MAN2B1):c.358G>A (p.Glu120Lys)
|
rs2024208039
|
|
NM_000528.4(MAN2B1):c.414del (p.Val139fs)
|
|
|
NM_000528.4(MAN2B1):c.418C>T (p.Arg140Ter)
|
rs370803545
|
|
NM_000528.4(MAN2B1):c.426del (p.Val143fs)
|
rs2024205685
|
|
NM_000528.4(MAN2B1):c.437-1G>A
|
|
|
NM_000528.4(MAN2B1):c.437-1dup
|
rs1160557969
|
|
NM_000528.4(MAN2B1):c.437-2A>G
|
|
|
NM_000528.4(MAN2B1):c.437-2del
|
|
|
NM_000528.4(MAN2B1):c.440del (p.Arg147fs)
|
|
|
NM_000528.4(MAN2B1):c.446del (p.Glu149fs)
|
rs1057516682
|
|
NM_000528.4(MAN2B1):c.495C>A (p.Tyr165Ter)
|
rs771479314
|
|
NM_000528.4(MAN2B1):c.53_54insT (p.Ala19fs)
|
rs1057516810
|
|
NM_000528.4(MAN2B1):c.590C>G (p.Pro197Arg)
|
rs864621977
|
|
NM_000528.4(MAN2B1):c.593dup (p.Gly199fs)
|
|
|
NM_000528.4(MAN2B1):c.628C>T (p.Gln210Ter)
|
|
|
NM_000528.4(MAN2B1):c.631-2A>C
|
|
|
NM_000528.4(MAN2B1):c.645_646insAG (p.Phe216fs)
|
|
|
NM_000528.4(MAN2B1):c.664_667del (p.Asp222fs)
|
|
|
NM_000528.4(MAN2B1):c.686G>T (p.Arg229Leu)
|
rs574202419
|
|
NM_000528.4(MAN2B1):c.739_740insTAAAGAT (p.Pro247fs)
|
|
|
NM_000528.4(MAN2B1):c.763+2_763+8del
|
rs1057517108
|
|
NM_000528.4(MAN2B1):c.764-1G>C
|
rs1555709533
|
|
NM_000528.4(MAN2B1):c.807G>A (p.Trp269Ter)
|
rs1329771201
|
|
NM_000528.4(MAN2B1):c.872_875dup (p.Val293fs)
|
|
|
NM_000528.4(MAN2B1):c.909+1G>C
|
|
|
NM_000528.4(MAN2B1):c.93dup (p.Leu32fs)
|
rs1057516972
|
|
NM_000528.4(MAN2B1):c.953C>A (p.Ser318Ter)
|
rs774034389
|
|
NM_000528.4(MAN2B1):c.969del (p.Asn324fs)
|
|
|
NM_000545.8(HNF1A):c.1129del (p.Leu377fs)
|
rs193922576
|
|
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.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.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.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.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.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_000642.2(AGL):c.84delG
|
rs1553183148
|
|
NM_000642.3(AGL):c.1027C>T (p.Arg343Trp)
|
rs1131691438
|
|
NM_000642.3(AGL):c.1038T>A (p.Cys346Ter)
|
rs1651358664
|
|
NM_000642.3(AGL):c.1041dup (p.Val348fs)
|
rs2101126325
|
|
NM_000642.3(AGL):c.104T>G (p.Leu35Ter)
|
rs1057516567
|
|
NM_000642.3(AGL):c.1091del (p.Pro364fs)
|
|
|
NM_000642.3(AGL):c.1110C>A (p.Cys370Ter)
|
rs1651407980
|
|
NM_000642.3(AGL):c.1113dup (p.Asn372Ter)
|
|
|
NM_000642.3(AGL):c.1115del (p.Asn372fs)
|
|
|
NM_000642.3(AGL):c.1148C>G (p.Ser383Ter)
|
|
|
NM_000642.3(AGL):c.1159C>T (p.Arg387Ter)
|
rs1553185418
|
|
NM_000642.3(AGL):c.1169_1172del (p.Asn390fs)
|
rs1057516741
|
|
NM_000642.3(AGL):c.1185+1G>A
|
rs1057516948
|
|
NM_000642.3(AGL):c.118C>T (p.Gln40Ter)
|
rs771961377
|
|
NM_000642.3(AGL):c.121G>T (p.Gly41Ter)
|
rs1553183178
|
|
NM_000642.3(AGL):c.1243A>T (p.Lys415Ter)
|
rs2101128697
|
|
NM_000642.3(AGL):c.1282A>G (p.Arg428Gly)
|
rs886039883
|
|
NM_000642.3(AGL):c.1283+2T>C
|
|
|
NM_000642.3(AGL):c.1284-1G>A
|
|
|
NM_000642.3(AGL):c.1284-2A>G
|
rs1651536973
|
|
NM_000642.3(AGL):c.1384del (p.Trp461_Val462insTer)
|
rs786204678
|
|
NM_000642.3(AGL):c.1391dup (p.Asp465fs)
|
rs786204616
|
|
NM_000642.3(AGL):c.1400del (p.Pro467fs)
|
rs1057516913
|
|
NM_000642.3(AGL):c.1405C>T (p.Arg469Ter)
|
rs766536350
|
|
NM_000642.3(AGL):c.140dup (p.Tyr47Ter)
|
rs1057517347
|
|
NM_000642.3(AGL):c.1417G>T (p.Glu473Ter)
|
rs1651556356
|
|
NM_000642.3(AGL):c.1423+1G>T
|
rs751952198
|
|
NM_000642.3(AGL):c.1427C>A (p.Ser476Ter)
|
|
|
NM_000642.3(AGL):c.1437C>A (p.Tyr479Ter)
|
rs140095668
|
|
NM_000642.3(AGL):c.1444A>T (p.Arg482Ter)
|
|
|
NM_000642.3(AGL):c.1447G>T (p.Glu483Ter)
|
|
|
NM_000642.3(AGL):c.1494del (p.Lys498fs)
|
|
|
NM_000642.3(AGL):c.1517G>A (p.Trp506Ter)
|
|
|
NM_000642.3(AGL):c.1536C>A (p.Tyr512Ter)
|
|
|
NM_000642.3(AGL):c.1536_1545del (p.Lys511_Tyr512insTer)
|
rs1553185883
|
|
NM_000642.3(AGL):c.1597_1598del (p.Leu533fs)
|
rs1057516570
|
|
NM_000642.3(AGL):c.1611+2T>G
|
|
|
NM_000642.3(AGL):c.1612-1G>A
|
rs1327892944
|
|
NM_000642.3(AGL):c.1612-1G>C
|
rs1327892944
|
|
NM_000642.3(AGL):c.1637T>A (p.Leu546Ter)
|
|
|
NM_000642.3(AGL):c.1640_1641insGCTGG (p.Pro548fs)
|
|
|
NM_000642.3(AGL):c.1649T>G (p.Leu550Ter)
|
rs1651872905
|
|
NM_000642.3(AGL):c.1680_1683dup (p.Asp562Ter)
|
|
|
NM_000642.3(AGL):c.1688delinsGA (p.Leu563fs)
|
rs1651876879
|
|
NM_000642.3(AGL):c.1727T>A (p.Leu576Ter)
|
|
|
NM_000642.3(AGL):c.1727T>G (p.Leu576Ter)
|
rs1651881949
|
|
NM_000642.3(AGL):c.1734A>T (p.Arg578Ser)
|
rs1570442236
|
|
NM_000642.3(AGL):c.1736-11A>G
|
rs2101148246
|
|
NM_000642.3(AGL):c.1782C>A (p.Tyr594Ter)
|
rs1057516563
|
|
NM_000642.3(AGL):c.1788T>G (p.Tyr596Ter)
|
rs777871903
|
|
NM_000642.3(AGL):c.1858dup (p.Leu620fs)
|
|
|
NM_000642.3(AGL):c.1859T>C (p.Leu620Pro)
|
|
|
NM_000642.3(AGL):c.1883dup (p.Asn628fs)
|
|
|
NM_000642.3(AGL):c.1890T>A (p.Cys630Ter)
|
rs1651951474
|
|
NM_000642.3(AGL):c.18_19del (p.Gln6fs)
|
rs113994127
|
|
NM_000642.3(AGL):c.1907C>G (p.Ser636Ter)
|
|
|
NM_000642.3(AGL):c.193_194del (p.Leu65fs)
|
|
|
NM_000642.3(AGL):c.1942dup (p.Ser648fs)
|
rs2100758555
|
|
NM_000642.3(AGL):c.1998del (p.Gln667fs)
|
|
|
NM_000642.3(AGL):c.2001+1G>T
|
|
|
NM_000642.3(AGL):c.2001+2T>C
|
rs1057516708
|
|
NM_000642.3(AGL):c.2002-1G>C
|
rs2100759240
|
|
NM_000642.3(AGL):c.2011_2012del (p.Val671fs)
|
rs1057516666
|
|
NM_000642.3(AGL):c.2011del (p.Val671fs)
|
|
|
NM_000642.3(AGL):c.2024_2033del (p.Arg675fs)
|
rs1652003965
|
|
NM_000642.3(AGL):c.2034del (p.Lys679fs)
|
|
|
NM_000642.3(AGL):c.2036del (p.Lys679fs)
|
rs2100759432
|
|
NM_000642.3(AGL):c.2062_2065del (p.Asn688fs)
|
|
|
NM_000642.3(AGL):c.2109T>A (p.Cys703Ter)
|
|
|
NM_000642.3(AGL):c.2120_2121del (p.Lys707fs)
|
rs1553186577
|
|
NM_000642.3(AGL):c.2123_2124insA (p.His709fs)
|
|
|
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.2158-1G>T
|
|
|
NM_000642.3(AGL):c.2158-2A>G
|
rs878959417
|
|
NM_000642.3(AGL):c.2196_2197delinsGTAT (p.Thr733fs)
|
|
|
NM_000642.3(AGL):c.2207C>A (p.Ser736Ter)
|
|
|
NM_000642.3(AGL):c.2223_2224del (p.Gln741fs)
|
rs1553186613
|
|
NM_000642.3(AGL):c.223_224del (p.Glu74_Asp75insTer)
|
rs767346840
|
|
NM_000642.3(AGL):c.2277C>A (p.Tyr759Ter)
|
|
|
NM_000642.3(AGL):c.2278del (p.Ser760fs)
|
rs1057517136
|
|
NM_000642.3(AGL):c.2308+2T>A
|
|
|
NM_000642.3(AGL):c.2349_2352del (p.Arg784fs)
|
|
|
NM_000642.3(AGL):c.2351_2352del (p.Arg784fs)
|
|
|
NM_000642.3(AGL):c.2399dup (p.Asp801fs)
|
rs1652268068
|
|
NM_000642.3(AGL):c.2433+1G>A
|
rs2100768428
|
|
NM_000642.3(AGL):c.2434-1G>T
|
rs2100768726
|
|
NM_000642.3(AGL):c.2457_2460del (p.Gln820fs)
|
rs1553187237
|
|
NM_000642.3(AGL):c.2465del (p.Gly822fs)
|
|
|
NM_000642.3(AGL):c.2480_2481insA (p.Pro828fs)
|
|
|
NM_000642.3(AGL):c.2516dup (p.Asn839fs)
|
|
|
NM_000642.3(AGL):c.2525del (p.Pro842fs)
|
rs1057517425
|
|
NM_000642.3(AGL):c.2530dup (p.Ser844fs)
|
|
|
NM_000642.3(AGL):c.2538dup (p.Ile847fs)
|
rs1057516984
|
|
NM_000642.3(AGL):c.2569C>T (p.Gln857Ter)
|
rs1652306026
|
|
NM_000642.3(AGL):c.2605C>T (p.Gln869Ter)
|
rs1057516254
|
|
NM_000642.3(AGL):c.2623A>T (p.Lys875Ter)
|
|
|
NM_000642.3(AGL):c.2670del (p.Pro891fs)
|
rs764591009
|
|
NM_000642.3(AGL):c.2682-2A>G
|
rs1185321132
|
|
NM_000642.3(AGL):c.2685_2686del (p.Ala896fs)
|
|
|
NM_000642.3(AGL):c.2692A>T (p.Arg898Ter)
|
|
|
NM_000642.3(AGL):c.2702T>A (p.Leu901Ter)
|
|
|
NM_000642.3(AGL):c.2724_2725del (p.Tyr909fs)
|
|
|
NM_000642.3(AGL):c.2738C>A (p.Ser913Ter)
|
rs1652583223
|
|
NM_000642.3(AGL):c.2740G>T (p.Glu914Ter)
|
|
|
NM_000642.3(AGL):c.2783G>A (p.Trp928Ter)
|
|
|
NM_000642.3(AGL):c.2799T>G (p.Tyr933Ter)
|
rs767529587
|
|
NM_000642.3(AGL):c.2810_2812+21del
|
|
|
NM_000642.3(AGL):c.2812+1G>C
|
|
|
NM_000642.3(AGL):c.2869del (p.Cys957fs)
|
|
|
NM_000642.3(AGL):c.2894G>A (p.Trp965Ter)
|
rs1652877420
|
|
NM_000642.3(AGL):c.289C>T (p.Gln97Ter)
|
rs1553183220
|
|
NM_000642.3(AGL):c.2905dup (p.Tyr969fs)
|
rs1652879873
|
|
NM_000642.3(AGL):c.2906_2907del (p.Tyr969fs)
|
rs1553188559
|
|
NM_000642.3(AGL):c.293+1G>T
|
|
|
NM_000642.3(AGL):c.293+1del
|
rs777857395
|
|
NM_000642.3(AGL):c.294-1G>C
|
rs757967016
|
|
NM_000642.3(AGL):c.294-2A>T
|
rs1057516868
|
|
NM_000642.3(AGL):c.2949+2T>A
|
rs750492389
|
|
NM_000642.3(AGL):c.2949+2T>C
|
rs750492389
|
|
NM_000642.3(AGL):c.2949+5G>A
|
rs1652885754
|
|
NM_000642.3(AGL):c.2950-1G>A
|
rs1057516793
|
|
NM_000642.3(AGL):c.2950-1G>C
|
rs1057516793
|
|
NM_000642.3(AGL):c.2950-2A>C
|
rs770438130
|
|
NM_000642.3(AGL):c.296del (p.Asn99fs)
|
|
|
NM_000642.3(AGL):c.2989C>T (p.Gln997Ter)
|
|
|
NM_000642.3(AGL):c.3011del (p.Pro1004fs)
|
rs1057516306
|
|
NM_000642.3(AGL):c.3054_3083+34del
|
|
|
NM_000642.3(AGL):c.3083+1G>A
|
rs2100790188
|
|
NM_000642.3(AGL):c.3083+1G>T
|
|
|
NM_000642.3(AGL):c.3083+2T>C
|
rs1057516952
|
|
NM_000642.3(AGL):c.3084-1G>A
|
|
|
NM_000642.3(AGL):c.3090_3091del (p.Gln1031fs)
|
|
|
NM_000642.3(AGL):c.3091C>T (p.Gln1031Ter)
|
|
|
NM_000642.3(AGL):c.3100_3101del (p.Ser1034fs)
|
|
|
NM_000642.3(AGL):c.3178del (p.Ser1060fs)
|
|
|
NM_000642.3(AGL):c.3204_3205dup (p.Arg1069fs)
|
|
|
NM_000642.3(AGL):c.3216_3217del (p.Glu1072fs)
|
rs771069887
|
|
NM_000642.3(AGL):c.3221_3222del (p.Thr1074fs)
|
|
|
NM_000642.3(AGL):c.3223A>T (p.Lys1075Ter)
|
|
|
NM_000642.3(AGL):c.3235C>T (p.Gln1079Ter)
|
rs1553188849
|
|
NM_000642.3(AGL):c.3238del (p.Cys1080fs)
|
|
|
NM_000642.3(AGL):c.3259+1G>C
|
|
|
NM_000642.3(AGL):c.3260-2A>T
|
rs775904482
|
|
NM_000642.3(AGL):c.3297G>A (p.Trp1099Ter)
|
rs786204490
|
|
NM_000642.3(AGL):c.3299del (p.Gly1100fs)
|
|
|
NM_000642.3(AGL):c.3302G>A (p.Arg1101Lys)
|
|
|
NM_000642.3(AGL):c.3362+1G>A
|
rs1553189468
|
|
NM_000642.3(AGL):c.3362+2T>C
|
rs2100804114
|
|
NM_000642.3(AGL):c.3362G>A (p.Arg1121Lys)
|
rs1653326843
|
|
NM_000642.3(AGL):c.3363-1G>A
|
rs1057516513
|
|
NM_000642.3(AGL):c.337_338del (p.Leu113fs)
|
|
|
NM_000642.3(AGL):c.338T>A (p.Leu113Ter)
|
|
|
NM_000642.3(AGL):c.3439A>T (p.Arg1147Ter)
|
rs267606639
|
|
NM_000642.3(AGL):c.3443dup (p.Tyr1148Ter)
|
rs1057517079
|
|
NM_000642.3(AGL):c.3444C>G (p.Tyr1148Ter)
|
rs776977863
|
|
NM_000642.3(AGL):c.3450T>A (p.Cys1150Ter)
|
|
|
NM_000642.3(AGL):c.3480T>A (p.Cys1160Ter)
|
rs763652784
|
|
NM_000642.3(AGL):c.348_373del (p.Ala117fs)
|
rs1057516308
|
|
NM_000642.3(AGL):c.3498_3499del (p.Lys1166fs)
|
|
|
NM_000642.3(AGL):c.3538del (p.Ser1180fs)
|
rs1553190316
|
|
NM_000642.3(AGL):c.3588_3588+14del
|
|
|
NM_000642.3(AGL):c.3588_3588+2del
|
|
|
NM_000642.3(AGL):c.3589-1G>A
|
rs1289339080
|
|
NM_000642.3(AGL):c.3589-3C>G
|
rs1653935585
|
|
NM_000642.3(AGL):c.3604G>T (p.Glu1202Ter)
|
|
|
NM_000642.3(AGL):c.3613C>T (p.Gln1205Ter)
|
rs775498547
|
|
NM_000642.3(AGL):c.3630del (p.Lys1210fs)
|
rs1653938652
|
|
NM_000642.3(AGL):c.3662del (p.Asn1221fs)
|
|
|
NM_000642.3(AGL):c.3674_3696del (p.Gln1225fs)
|
rs1553190751
|
|
NM_000642.3(AGL):c.36_37insCG (p.Asn13fs)
|
rs762545015
|
|
NM_000642.3(AGL):c.3700+1G>A
|
rs2100825216
|
|
NM_000642.3(AGL):c.3700+2T>C
|
|
|
NM_000642.3(AGL):c.3701-2A>G
|
|
|
NM_000642.3(AGL):c.3718G>T (p.Gly1240Ter)
|
rs1654687449
|
|
NM_000642.3(AGL):c.3733del (p.Thr1245fs)
|
|
|
NM_000642.3(AGL):c.3745del (p.Tyr1249fs)
|
|
|
NM_000642.3(AGL):c.3771del (p.Thr1258fs)
|
|
|
NM_000642.3(AGL):c.3772_3776del (p.Thr1258fs)
|
rs2100849229
|
|
NM_000642.3(AGL):c.3787del (p.Met1263fs)
|
|
|
NM_000642.3(AGL):c.3790G>T (p.Gly1264Ter)
|
|
|
NM_000642.3(AGL):c.3793G>T (p.Glu1265Ter)
|
rs1654695322
|
|
NM_000642.3(AGL):c.3807dup (p.Arg1270Ter)
|
rs1057517017
|
|
NM_000642.3(AGL):c.3816_3817del (p.Gly1273fs)
|
rs867341758
|
|
NM_000642.3(AGL):c.3835A>T (p.Arg1279Ter)
|
rs1654701324
|
|
NM_000642.3(AGL):c.3882dup (p.Arg1295fs)
|
|
|
NM_000642.3(AGL):c.3895G>T (p.Glu1299Ter)
|
rs1654817532
|
|
NM_000642.3(AGL):c.3899T>G (p.Leu1300Ter)
|
rs1654818141
|
|
NM_000642.3(AGL):c.3911del (p.Asn1304fs)
|
rs745757264
|
|
NM_000642.3(AGL):c.3911dup (p.Asn1304fs)
|
rs745757264
|
|
NM_000642.3(AGL):c.3941_3949+12del
|
rs1553192718
|
|
NM_000642.3(AGL):c.3949+1G>C
|
|
|
NM_000642.3(AGL):c.3972T>G (p.Tyr1324Ter)
|
|
|
NM_000642.3(AGL):c.3G>C (p.Met1Ile)
|
rs1553181400
|
|
NM_000642.3(AGL):c.401_460+75delinsTATTACAT
|
|
|
NM_000642.3(AGL):c.408T>A (p.Cys136Ter)
|
|
|
NM_000642.3(AGL):c.4099G>T (p.Gly1367Ter)
|
|
|
NM_000642.3(AGL):c.4100del (p.Gly1367fs)
|
rs777120567
|
|
NM_000642.3(AGL):c.4126C>T (p.Gln1376Ter)
|
rs762602838
|
|
NM_000642.3(AGL):c.4162-1G>A
|
rs1490339052
|
|
NM_000642.3(AGL):c.4162-2A>T
|
|
|
NM_000642.3(AGL):c.4162-5_4162-1delinsCTAGTGAAT
|
|
|
NM_000642.3(AGL):c.4165_4166del (p.Ala1388_Pro1389insTer)
|
rs1293077915
|
|
NM_000642.3(AGL):c.4175_4176del (p.Phe1392fs)
|
rs1057517405
|
|
NM_000642.3(AGL):c.4197del (p.Ala1400fs)
|
rs786204595
|
|
NM_000642.3(AGL):c.4204G>T (p.Glu1402Ter)
|
|
|
NM_000642.3(AGL):c.4221dup (p.Leu1408fs)
|
rs786204655
|
|
NM_000642.3(AGL):c.4243A>T (p.Lys1415Ter)
|
|
|
NM_000642.3(AGL):c.4249_4250del (p.Leu1417fs)
|
|
|
NM_000642.3(AGL):c.4255_4259+150del
|
|
|
NM_000642.3(AGL):c.4256dup (p.Asp1420fs)
|
|
|
NM_000642.3(AGL):c.4259+5G>A
|
rs780504025
|
|
NM_000642.3(AGL):c.4260-1G>A
|
|
|
NM_000642.3(AGL):c.4260-2A>C
|
|
|
NM_000642.3(AGL):c.4275T>A (p.Cys1425Ter)
|
rs1655117886
|
|
NM_000642.3(AGL):c.4295T>A (p.Leu1432Ter)
|
|
|
NM_000642.3(AGL):c.4322_4323dup (p.Gly1442fs)
|
rs1057516994
|
|
NM_000642.3(AGL):c.4323del (p.Gly1442fs)
|
rs1057516994
|
|
NM_000642.3(AGL):c.4347+1G>A
|
rs1553193463
|
|
NM_000642.3(AGL):c.4347+1G>T
|
rs1553193463
|
|
NM_000642.3(AGL):c.4348-2A>T
|
rs1353062665
|
|
NM_000642.3(AGL):c.4348G>T (p.Glu1450Ter)
|
rs1553193486
|
|
NM_000642.3(AGL):c.437del (p.Arg146fs)
|
rs1057517344
|
|
NM_000642.3(AGL):c.4422del (p.Ala1475fs)
|
rs1286364615
|
|
NM_000642.3(AGL):c.442del (p.Arg148fs)
|
rs1057516397
|
|
NM_000642.3(AGL):c.4481+1G>C
|
rs1553193529
|
|
NM_000642.3(AGL):c.4481+2T>G
|
rs1553193530
|
|
NM_000642.3(AGL):c.454G>T (p.Glu152Ter)
|
rs1650125542
|
|
NM_000642.3(AGL):c.4562C>T (p.Ser1521Leu)
|
|
|
NM_000642.3(AGL):c.458C>A (p.Ser153Ter)
|
rs1650126015
|
|
NM_000642.3(AGL):c.4599G>C (p.Ter1533Tyr)
|
rs1655521504
|
|
NM_000642.3(AGL):c.460+1G>A
|
rs930434905
|
|
NM_000642.3(AGL):c.471del (p.Met157fs)
|
|
|
NM_000642.3(AGL):c.500dup (p.Leu168fs)
|
rs1443902661
|
|
NM_000642.3(AGL):c.506_507insA (p.Ser169_Arg170insTer)
|
|
|
NM_000642.3(AGL):c.516C>A (p.Cys172Ter)
|
rs1650330685
|
|
NM_000642.3(AGL):c.535_538del (p.Leu179fs)
|
rs794727706
|
|
NM_000642.3(AGL):c.538G>T (p.Glu180Ter)
|
|
|
NM_000642.3(AGL):c.557C>G (p.Ser186Ter)
|
|
|
NM_000642.3(AGL):c.567dup (p.Arg190Ter)
|
rs1650334882
|
|
NM_000642.3(AGL):c.604del (p.Glu202fs)
|
|
|
NM_000642.3(AGL):c.615_616insTTCCT (p.Lys206fs)
|
|
|
NM_000642.3(AGL):c.619del (p.Glu207fs)
|
|
|
NM_000642.3(AGL):c.623G>A (p.Trp208Ter)
|
|
|
NM_000642.3(AGL):c.643G>A (p.Asp215Asn)
|
|
|
NM_000642.3(AGL):c.64del (p.Leu22fs)
|
rs1057517057
|
|
NM_000642.3(AGL):c.664+1G>A
|
rs61811105
|
|
NM_000642.3(AGL):c.664+1G>C
|
rs61811105
|
|
NM_000642.3(AGL):c.664+2T>C
|
rs1650347038
|
|
NM_000642.3(AGL):c.665-2A>G
|
|
|
NM_000642.3(AGL):c.667del (p.Ala223fs)
|
|
|
NM_000642.3(AGL):c.672dup (p.Ser225Ter)
|
rs1057516471
|
|
NM_000642.3(AGL):c.680G>A (p.Trp227Ter)
|
rs145929061
|
|
NM_000642.3(AGL):c.681G>A (p.Trp227Ter)
|
rs753914653
|
|
NM_000642.3(AGL):c.743G>A (p.Trp248Ter)
|
|
|
NM_000642.3(AGL):c.772T>C (p.Ser258Pro)
|
rs886039873
|
|
NM_000642.3(AGL):c.809dup (p.Ile271fs)
|
|
|
NM_000642.3(AGL):c.82+1G>A
|
rs1354714214
|
|
NM_000642.3(AGL):c.82+1G>C
|
|
|
NM_000642.3(AGL):c.82+1G>T
|
|
|
NM_000642.3(AGL):c.82+2T>G
|
|
|
NM_000642.3(AGL):c.83-2A>G
|
|
|
NM_000642.3(AGL):c.842_846+29del
|
|
|
NM_000642.3(AGL):c.854del (p.Arg285fs)
|
rs1553184620
|
|
NM_000642.3(AGL):c.861_864del (p.Ile288fs)
|
rs1571243699
|
|
NM_000642.3(AGL):c.867G>A (p.Trp289Ter)
|
rs1650926061
|
|
NM_000642.3(AGL):c.921del (p.Asn307fs)
|
rs1571243862
|
|
NM_000642.3(AGL):c.947_948del (p.Leu316fs)
|
rs1650934988
|
|
NM_000642.3(AGL):c.958+1G>C
|
|
|
NM_000642.3(AGL):c.967C>T (p.Arg323Ter)
|
rs757987101
|
|
NM_000642.3(AGL):c.991C>T (p.Gln331Ter)
|
rs1651353836
|
|
NM_000891.3(KCNJ2):c.200G>A (p.Arg67Gln)
|
rs199473368
|
|
NM_000891.3(KCNJ2):c.211G>C (p.Asp71His)
|
rs199473369
|
|
NM_000891.3(KCNJ2):c.407_409delinsTTT (p.Ser136_Ile137delinsPhePhe)
|
rs864622292
|
|
NM_000891.3(KCNJ2):c.434A>G (p.Tyr145Cys)
|
rs2074387117
|
|
NM_000891.3(KCNJ2):c.461G>A (p.Cys154Tyr)
|
rs199473380
|
|
NM_000891.3(KCNJ2):c.557C>A (p.Pro186Gln)
|
rs104894581
|
|
NM_000891.3(KCNJ2):c.566G>A (p.Arg189Lys)
|
rs199473381
|
|
NM_000891.3(KCNJ2):c.598G>A (p.Val200Met)
|
|
|
NM_000891.3(KCNJ2):c.646A>T (p.Asn216Tyr)
|
rs104894583
|
|
NM_000891.3(KCNJ2):c.652C>T (p.Arg218Trp)
|
rs104894578
|
|
NM_000891.3(KCNJ2):c.653G>C (p.Arg218Pro)
|
rs199473384
|
|
NM_000891.3(KCNJ2):c.779G>A (p.Arg260His)
|
rs199473385
|
|
NM_000891.3(KCNJ2):c.896A>G (p.Glu299Gly)
|
rs786205817
|
|
NM_000891.3(KCNJ2):c.913A>G (p.Thr305Ala)
|
rs199473387
|
|
NM_000891.3(KCNJ2):c.935G>A (p.Arg312His)
|
rs786205820
|
|
NM_000891.3(KCNJ2):c.939_944del (p.Ser314_Tyr315del)
|
rs2074390325
|
|
NM_000925.4(PDHB):c.121C>T (p.Gln41Ter)
|
|
|
NM_000925.4(PDHB):c.122_123del (p.Gln41fs)
|
|
|
NM_000925.4(PDHB):c.211C>T (p.Arg71Ter)
|
|
|
NM_000925.4(PDHB):c.303+1G>C
|
|
|
NM_000925.4(PDHB):c.304-1G>C
|
|
|
NM_000925.4(PDHB):c.310T>G (p.Leu104Val)
|
rs201199166
|
|
NM_000925.4(PDHB):c.314G>A (p.Arg105Gln)
|
rs868788199
|
|
NM_000925.4(PDHB):c.352C>T (p.Gln118Ter)
|
|
|
NM_000925.4(PDHB):c.41_43-12del
|
|
|
NM_000925.4(PDHB):c.469C>T (p.Gln157Ter)
|
|
|
NM_000925.4(PDHB):c.607G>T (p.Glu203Ter)
|
|
|
NM_000925.4(PDHB):c.716_717del (p.Val239fs)
|
|
|
NM_000925.4(PDHB):c.818del (p.Pro273fs)
|
|
|
NM_000925.4(PDHB):c.934+1G>A
|
|
|
NM_000925.4(PDHB):c.96+2T>C
|
rs2107943571
|
|
NM_001008216.2(GALE):c.1004G>A (p.Arg335His)
|
|
|
NM_001008216.2(GALE):c.122-11_122-1del
|
|
|
NM_001008216.2(GALE):c.207C>A (p.Asp69Glu)
|
rs1261697960
|
|
NM_001008216.2(GALE):c.351+1G>T
|
rs1388106856
|
|
NM_001008216.2(GALE):c.351+2T>C
|
|
|
NM_001008216.2(GALE):c.408C>A (p.Tyr136Ter)
|
rs727503943
|
|
NM_001008216.2(GALE):c.528+1G>A
|
|
|
NM_001008216.2(GALE):c.642+1G>A
|
|
|
NM_001008216.2(GALE):c.643-2A>C
|
|
|
NM_001008216.2(GALE):c.709+2_709+17del
|
|
|
NM_001008216.2(GALE):c.749del (p.Gly250fs)
|
rs1570630665
|
|
NM_001008216.2(GALE):c.795+1G>A
|
|
|
NM_001008216.2(GALE):c.873+2T>C
|
|
|
NM_001040616.3(LINS1):c.1222+2T>C
|
|
|
NM_001040616.3(LINS1):c.1424_1425del (p.Gln475fs)
|
rs2141262985
|
|
NM_001040616.3(LINS1):c.1605G>A (p.Trp535Ter)
|
|
|
NM_001040616.3(LINS1):c.1727_1736del (p.Arg576fs)
|
rs2141261531
|
|
NM_001040616.3(LINS1):c.1921_1923delinsAC (p.Glu641fs)
|
|
|
NM_001040616.3(LINS1):c.2270T>A (p.Leu757Ter)
|
rs1383641417
|
|
NM_001040616.3(LINS1):c.431del (p.Leu144fs)
|
rs764442764
|
|
NM_001040616.3(LINS1):c.557_558del (p.Lys186fs)
|
rs747412555
|
|
NM_001040616.3(LINS1):c.597del (p.Glu200fs)
|
rs1198074890
|
|
NM_001040616.3(LINS1):c.631+1G>A
|
|
|
NM_001040616.3(LINS1):c.717C>A (p.Cys239Ter)
|
rs1596891223
|
|
NM_001040616.3(LINS1):c.937G>A (p.Glu313Lys)
|
rs1057519019
|
|
NM_001040716.2(PC):c.1022+1G>A
|
rs1555025823
|
|
NM_001040716.2(PC):c.106_107delinsAGACAGT (p.Pro36fs)
|
|
|
NM_001040716.2(PC):c.1154_1155del (p.Arg385fs)
|
rs1482845179
|
|
NM_001040716.2(PC):c.1216C>T (p.Arg406Cys)
|
rs1358651584
|
|
NM_001040716.2(PC):c.1296_1304delinsGGCC (p.His432fs)
|
|
|
NM_001040716.2(PC):c.1351C>T (p.Arg451Cys)
|
rs113994143
|
|
NM_001040716.2(PC):c.1357C>T (p.Arg453Ter)
|
rs768514713
|
|
NM_001040716.2(PC):c.136+1G>T
|
|
|
NM_001040716.2(PC):c.1368+1G>A
|
rs755640269
|
|
NM_001040716.2(PC):c.1369-1G>C
|
rs2135822173
|
|
NM_001040716.2(PC):c.1372A>G (p.Asn458Asp)
|
rs2135822119
|
|
NM_001040716.2(PC):c.1514-2A>G
|
rs1945585636
|
|
NM_001040716.2(PC):c.1520del (p.Val507fs)
|
|
|
NM_001040716.2(PC):c.1526_1529del (p.Val509fs)
|
|
|
NM_001040716.2(PC):c.1533_1549del (p.Pro512fs)
|
|
|
NM_001040716.2(PC):c.1536_1537insG (p.Thr513fs)
|
|
|
NM_001040716.2(PC):c.1560del (p.Ser521fs)
|
|
|
NM_001040716.2(PC):c.1564_1565insAG (p.Pro522fs)
|
|
|
NM_001040716.2(PC):c.156dup (p.Phe53fs)
|
|
|
NM_001040716.2(PC):c.1574del (p.Thr525fs)
|
|
|
NM_001040716.2(PC):c.1621_1623delinsAT (p.Phe541fs)
|
|
|
NM_001040716.2(PC):c.1639C>T (p.Arg547Ter)
|
|
|
NM_001040716.2(PC):c.1745_1746del (p.Val582fs)
|
|
|
NM_001040716.2(PC):c.1799dup (p.Leu601fs)
|
|
|
NM_001040716.2(PC):c.1825+1G>A
|
rs1565214970
|
|
NM_001040716.2(PC):c.1825+2T>G
|
|
|
NM_001040716.2(PC):c.1826-1G>C
|
|
|
NM_001040716.2(PC):c.1876C>T (p.Arg626Trp)
|
rs1591122325
|
|
NM_001040716.2(PC):c.1980del (p.Phe660fs)
|
|
|
NM_001040716.2(PC):c.1983-116C>T
|
rs2135805611
|
|
NM_001040716.2(PC):c.1989_1990dup (p.Glu664fs)
|
|
|
NM_001040716.2(PC):c.200_201del (p.Tyr67fs)
|
|
|
NM_001040716.2(PC):c.2113_2114del (p.Ser705fs)
|
|
|
NM_001040716.2(PC):c.2185del (p.Glu729fs)
|
|
|
NM_001040716.2(PC):c.220C>T (p.Gln74Ter)
|
|
|
NM_001040716.2(PC):c.2278C>T (p.Arg760Trp)
|
rs563526275
|
|
NM_001040716.2(PC):c.2292del (p.Asp765fs)
|
|
|
NM_001040716.2(PC):c.2359dup (p.Ala787fs)
|
|
|
NM_001040716.2(PC):c.2369del (p.Gly790fs)
|
|
|
NM_001040716.2(PC):c.239_240insCTTGA (p.Asp81fs)
|
|
|
NM_001040716.2(PC):c.2413_2415delinsTGTATAAGAGACAG (p.Thr805fs)
|
|
|
NM_001040716.2(PC):c.2435C>A (p.Ala812Asp)
|
rs2135798857
|
|
NM_001040716.2(PC):c.2473+1G>C
|
rs1304770743
|
|
NM_001040716.2(PC):c.2473+2T>C
|
|
|
NM_001040716.2(PC):c.248_249insACTCACCCAAGAT (p.Tyr84fs)
|
|
|
NM_001040716.2(PC):c.2532_2533del (p.Tyr845fs)
|
|
|
NM_001040716.2(PC):c.2535C>A (p.Tyr845Ter)
|
|
|
NM_001040716.2(PC):c.2576C>A (p.Ser859Ter)
|
|
|
NM_001040716.2(PC):c.2591dup (p.Asn864fs)
|
|
|
NM_001040716.2(PC):c.2606G>A (p.Gly869Asp)
|
rs1555015018
|
|
NM_001040716.2(PC):c.2606G>C (p.Gly869Ala)
|
rs1555015018
|
|
NM_001040716.2(PC):c.2674A>T (p.Lys892Ter)
|
|
|
NM_001040716.2(PC):c.2695del (p.Gln899fs)
|
|
|
NM_001040716.2(PC):c.2800C>T (p.Gln934Ter)
|
|
|
NM_001040716.2(PC):c.2804_2805del (p.Ala935fs)
|
|
|
NM_001040716.2(PC):c.280C>T (p.Gln94Ter)
|
|
|
NM_001040716.2(PC):c.281_282insCCTT (p.Gln94fs)
|
|
|
NM_001040716.2(PC):c.2866dup (p.His956fs)
|
|
|
NM_001040716.2(PC):c.2898+2T>C
|
rs2135791416
|
|
NM_001040716.2(PC):c.2898+2_2898+5del
|
|
|
NM_001040716.2(PC):c.295del (p.Ile99fs)
|
|
|
NM_001040716.2(PC):c.2971G>T (p.Glu991Ter)
|
|
|
NM_001040716.2(PC):c.3089del (p.Leu1030fs)
|
|
|
NM_001040716.2(PC):c.3141_3142delinsA (p.Phe1048fs)
|
rs1555014332
|
|
NM_001040716.2(PC):c.3146_3147+1del
|
|
|
NM_001040716.2(PC):c.3147+2T>C
|
rs2135788673
|
|
NM_001040716.2(PC):c.322-2A>G
|
rs2135940951
|
|
NM_001040716.2(PC):c.3284dup (p.Met1095fs)
|
|
|
NM_001040716.2(PC):c.329dup (p.Asn110fs)
|
|
|
NM_001040716.2(PC):c.3306dup (p.Lys1103fs)
|
rs1324931037
|
|
NM_001040716.2(PC):c.3359_3362dup (p.Ile1123fs)
|
rs1555013840
|
|
NM_001040716.2(PC):c.3409_3410del (p.Leu1137fs)
|
rs113994148
|
|
NM_001040716.2(PC):c.342_343insTTATATT (p.His115fs)
|
|
|
NM_001040716.2(PC):c.44del (p.Gly15fs)
|
|
|
NM_001040716.2(PC):c.52C>T (p.Arg18Ter)
|
rs144583275
|
|
NM_001040716.2(PC):c.584C>T (p.Ala195Val)
|
rs1436643226
|
|
NM_001040716.2(PC):c.597_606delinsAA (p.Gly200fs)
|
|
|
NM_001040716.2(PC):c.634-1G>A
|
|
|
NM_001040716.2(PC):c.706G>T (p.Glu236Ter)
|
|
|
NM_001040716.2(PC):c.731_732insGGCTTGGGATGGAG (p.His244fs)
|
|
|
NM_001040716.2(PC):c.736G>A (p.Glu246Lys)
|
|
|
NM_001040716.2(PC):c.764_765del (p.Gly255fs)
|
|
|
NM_001040716.2(PC):c.788G>A (p.Arg263Gln)
|
rs769177104
|
|
NM_001040716.2(PC):c.796T>G (p.Ser266Ala)
|
rs113994142
|
|
NM_001040716.2(PC):c.815A>G (p.Gln272Arg)
|
rs1591186383
|
|
NM_001040716.2(PC):c.885_888del (p.Val296fs)
|
|
|
NM_001040716.2(PC):c.88del (p.Arg30fs)
|
|
|
NM_001040716.2(PC):c.903+2T>A
|
rs1946669738
|
|
NM_001040716.2(PC):c.908del (p.Gly303fs)
|
|
|
NM_001041.4(SI):c.2159+2T>G
|
rs1553775177
|
|
NM_001041.4(SI):c.2426+1G>A
|
|
|
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.3186_3187del (p.Leu1062_Tyr1063insTer)
|
rs776569472
|
|
NM_001041.4(SI):c.570T>A (p.Tyr190Ter)
|
|
|
NM_001041.4(SI):c.635+2T>C
|
rs1185991890
|
|
NM_001041.4(SI):c.853G>T (p.Glu285Ter)
|
rs758259365
|
|
NM_001042351.1(G6PD):c.[317C>G;544C>T;592C>T]
|
|
|
NM_001042351.1(G6PD):c.[376A>G;542A>T]
|
|
|
NM_001080510.5(METTL23):c.126del (p.Lys42fs)
|
rs2143866789
|
|
NM_001080510.5(METTL23):c.174_177del (p.Cys58fs)
|
rs746453662
|
|
NM_001080510.5(METTL23):c.204_207del (p.Met68fs)
|
|
|
NM_001080510.5(METTL23):c.409del (p.Ala137fs)
|
|
|
NM_001136035.4(TRMT1):c.1161_1162del (p.Cys387fs)
|
|
|
NM_001136035.4(TRMT1):c.1487G>A (p.Trp496Ter)
|
rs2145578013
|
|
NM_001136035.4(TRMT1):c.1534C>T (p.Arg512Ter)
|
rs751298016
|
|
NM_001136035.4(TRMT1):c.232C>T (p.Gln78Ter)
|
rs2019344087
|
|
NM_001136035.4(TRMT1):c.24_33del (p.Leu10fs)
|
rs750785552
|
|
NM_001136035.4(TRMT1):c.311-1G>A
|
rs2019322057
|
|
NM_001136035.4(TRMT1):c.35del (p.Phe12fs)
|
|
|
NM_001136035.4(TRMT1):c.389_390del (p.Lys130fs)
|
rs868289171
|
|
NM_001160372.4(TRAPPC9):c.151C>T (p.Arg51Ter)
|
rs2071449158
|
|
NM_001160372.4(TRAPPC9):c.1623-1G>A
|
|
|
NM_001160372.4(TRAPPC9):c.1675dup (p.Ser559fs)
|
|
|
NM_001160372.4(TRAPPC9):c.1928del (p.Tyr643fs)
|
|
|
NM_001160372.4(TRAPPC9):c.2173C>T (p.Gln725Ter)
|
|
|
NM_001160372.4(TRAPPC9):c.239T>C (p.Leu80Pro)
|
rs2132705299
|
|
NM_001160372.4(TRAPPC9):c.2815dup (p.Ala939fs)
|
|
|
NM_001160372.4(TRAPPC9):c.2890A>G (p.Lys964Glu)
|
rs1357591960
|
|
NM_001160372.4(TRAPPC9):c.2920C>T (p.Arg974Ter)
|
|
|
NM_001164277.2(SLC37A4):c.1016G>A (p.Gly339Asp)
|
rs121908980
|
|
NM_001164277.2(SLC37A4):c.1019_1038del (p.Phe340fs)
|
rs1943525176
|
|
NM_001164277.2(SLC37A4):c.1063_1064insTTGGG (p.Glu355fs)
|
|
|
NM_001164277.2(SLC37A4):c.1065del (p.Ser356fs)
|
|
|
NM_001164277.2(SLC37A4):c.1082del (p.Leu361fs)
|
|
|
NM_001164277.2(SLC37A4):c.1110_1117dup (p.Ala373fs)
|
|
|
NM_001164277.2(SLC37A4):c.1124+3_1124+6del
|
rs782612223
|
|
NM_001164277.2(SLC37A4):c.1125-1G>A
|
rs782202675
|
|
NM_001164277.2(SLC37A4):c.1149del (p.Phe384fs)
|
|
|
NM_001164277.2(SLC37A4):c.1267C>T (p.Arg423Ter)
|
rs2134626266
|
|
NM_001164277.2(SLC37A4):c.1287_1290del (p.Ter430GluextTer?)
|
rs1592107594
|
|
NM_001164277.2(SLC37A4):c.148+1G>A
|
rs1943672400
|
|
NM_001164277.2(SLC37A4):c.148+2T>A
|
|
|
NM_001164277.2(SLC37A4):c.148+2T>C
|
rs1449998297
|
|
NM_001164277.2(SLC37A4):c.148G>A (p.Gly50Arg)
|
|
|
NM_001164277.2(SLC37A4):c.163A>C (p.Ser55Arg)
|
rs193302884
|
|
NM_001164277.2(SLC37A4):c.195dup (p.Val66fs)
|
|
|
NM_001164277.2(SLC37A4):c.202G>A (p.Gly68Arg)
|
rs193302885
|
|
NM_001164277.2(SLC37A4):c.234G>A (p.Trp78Ter)
|
rs781857990
|
|
NM_001164277.2(SLC37A4):c.248G>A (p.Gly83Glu)
|
rs2134640168
|
|
NM_001164277.2(SLC37A4):c.269_270insTGGCTCCTGGT (p.Asn91fs)
|
rs1555191580
|
|
NM_001164277.2(SLC37A4):c.276dup (p.Phe93fs)
|
rs1555191573
|
|
NM_001164277.2(SLC37A4):c.344G>A (p.Gly115Glu)
|
|
|
NM_001164277.2(SLC37A4):c.344_345dup (p.Leu116fs)
|
rs782604758
|
|
NM_001164277.2(SLC37A4):c.356_359dup (p.Cys121fs)
|
|
|
NM_001164277.2(SLC37A4):c.365G>A (p.Gly122Glu)
|
|
|
NM_001164277.2(SLC37A4):c.370del (p.Val124fs)
|
rs1555191512
|
|
NM_001164277.2(SLC37A4):c.381+1G>A
|
rs786204637
|
|
NM_001164277.2(SLC37A4):c.382-1G>T
|
|
|
NM_001164277.2(SLC37A4):c.382-1del
|
rs1555191406
|
|
NM_001164277.2(SLC37A4):c.382-2A>G
|
|
|
NM_001164277.2(SLC37A4):c.530_531dup (p.Val178fs)
|
|
|
NM_001164277.2(SLC37A4):c.572C>T (p.Pro191Leu)
|
rs193302888
|
|
NM_001164277.2(SLC37A4):c.595del (p.Leu199fs)
|
rs1474282972
|
|
NM_001164277.2(SLC37A4):c.59dup (p.Tyr21fs)
|
rs1943676862
|
|
NM_001164277.2(SLC37A4):c.637del (p.Glu213fs)
|
|
|
NM_001164277.2(SLC37A4):c.649delinsGG (p.Leu217fs)
|
|
|
NM_001164277.2(SLC37A4):c.671dup (p.Tyr225fs)
|
|
|
NM_001164277.2(SLC37A4):c.676del (p.Leu226fs)
|
rs1555191105
|
|
NM_001164277.2(SLC37A4):c.681G>A (p.Trp227Ter)
|
rs2134635160
|
|
NM_001164277.2(SLC37A4):c.703GTG[1] (p.Val236del)
|
rs121908977
|
|
NM_001164277.2(SLC37A4):c.708_709dup (p.Phe237fs)
|
rs781869215
|
|
NM_001164277.2(SLC37A4):c.70T>C (p.Tyr24His)
|
rs193302887
|
|
NM_001164277.2(SLC37A4):c.736T>C (p.Trp246Arg)
|
rs193302878
|
|
NM_001164277.2(SLC37A4):c.74_77del (p.Tyr25fs)
|
rs1447366650
|
|
NM_001164277.2(SLC37A4):c.785+2T>G
|
rs1592111559
|
|
NM_001164277.2(SLC37A4):c.786-1G>A
|
rs1943578039
|
|
NM_001164277.2(SLC37A4):c.786-2A>C
|
|
|
NM_001164277.2(SLC37A4):c.786-2A>G
|
rs2134633880
|
|
NM_001164277.2(SLC37A4):c.788G>A (p.Ser263Asn)
|
|
|
NM_001164277.2(SLC37A4):c.805del (p.Leu269fs)
|
rs1555190992
|
|
NM_001164277.2(SLC37A4):c.838G>C (p.Ala280Pro)
|
rs1555190969
|
|
NM_001164277.2(SLC37A4):c.845_848del (p.Tyr282fs)
|
rs1555190956
|
|
NM_001164277.2(SLC37A4):c.871+1G>A
|
|
|
NM_001164277.2(SLC37A4):c.872-1G>A
|
|
|
NM_001164277.2(SLC37A4):c.872-2A>C
|
rs920196110
|
|
NM_001164277.2(SLC37A4):c.872-8_881del
|
|
|
NM_001164277.2(SLC37A4):c.882dup (p.Asn295fs)
|
|
|
NM_001164277.2(SLC37A4):c.899G>A (p.Arg300His)
|
rs193302903
|
|
NM_001164277.2(SLC37A4):c.902A>C (p.His301Pro)
|
rs193302891
|
|
NM_001164277.2(SLC37A4):c.912_913insGC (p.Leu305fs)
|
rs1555190745
|
|
NM_001164277.2(SLC37A4):c.923_934dup (p.Met308_Met311dup)
|
rs786204477
|
|
NM_001164277.2(SLC37A4):c.92_94del (p.Phe31del)
|
rs1432360280
|
|
NM_001164277.2(SLC37A4):c.935_936del (p.Thr312fs)
|
|
|
NM_001164277.2(SLC37A4):c.963_964del (p.Val322fs)
|
rs1592109970
|
|
NM_001164277.2(SLC37A4):c.969_975del (p.Ser324fs)
|
|
|
NM_001164277.2(SLC37A4):c.976dup (p.Ser326fs)
|
rs2134631242
|
|
NM_001164277.2(SLC37A4):c.981del (p.Lys328fs)
|
rs1001301633
|
|
NM_001164277.2(SLC37A4):c.985+1G>A
|
rs1943553565
|
|
NM_001164277.2(SLC37A4):c.986-1G>A
|
|
|
NM_001164277.2(SLC37A4):c.986-3_989del
|
rs1555190559
|
|
NM_001195553.2(DCX):c.288C>A (p.Asn96Lys)
|
rs1556405057
|
|
NM_001243177.4(ALDOA):c.1001C>T (p.Ala334Val)
|
rs2151019295
|
|
NM_001243177.4(ALDOA):c.1178G>A (p.Cys393Tyr)
|
rs2151019809
|
|
NM_001352514.2(HLCS):c.1016_1017del (p.Ile339fs)
|
|
|
NM_001352514.2(HLCS):c.1041del (p.Leu348fs)
|
|
|
NM_001352514.2(HLCS):c.1045G>T (p.Glu349Ter)
|
rs148324626
|
|
NM_001352514.2(HLCS):c.1045del (p.Glu349fs)
|
|
|
NM_001352514.2(HLCS):c.1063_1064del (p.Asp355fs)
|
|
|
NM_001352514.2(HLCS):c.1083T>A (p.Cys361Ter)
|
|
|
NM_001352514.2(HLCS):c.1132C>T (p.Gln378Ter)
|
rs1481968221
|
|
NM_001352514.2(HLCS):c.1133del (p.Gln378fs)
|
|
|
NM_001352514.2(HLCS):c.1151T>C (p.Leu384Pro)
|
rs119103227
|
|
NM_001352514.2(HLCS):c.1151T>G (p.Leu384Arg)
|
rs119103227
|
|
NM_001352514.2(HLCS):c.1163G>C (p.Gly388Ala)
|
rs1057516035
|
|
NM_001352514.2(HLCS):c.1219_1222dup (p.Gly408fs)
|
|
|
NM_001352514.2(HLCS):c.1223dup (p.Ala409fs)
|
|
|
NM_001352514.2(HLCS):c.1250T>A (p.Leu417Ter)
|
rs2066894484
|
|
NM_001352514.2(HLCS):c.1275_1283delinsTGAGCACT (p.Val427fs)
|
|
|
NM_001352514.2(HLCS):c.1276G>T (p.Glu426Ter)
|
|
|
NM_001352514.2(HLCS):c.1289del (p.Ser430fs)
|
|
|
NM_001352514.2(HLCS):c.1302_1303insC (p.Gly435fs)
|
|
|
NM_001352514.2(HLCS):c.1315del (p.Gln439fs)
|
|
|
NM_001352514.2(HLCS):c.1326del (p.Val443fs)
|
|
|
NM_001352514.2(HLCS):c.1351C>T (p.Gln451Ter)
|
|
|
NM_001352514.2(HLCS):c.1358_1359del (p.His453fs)
|
|
|
NM_001352514.2(HLCS):c.1404del (p.Phe468fs)
|
|
|
NM_001352514.2(HLCS):c.1418dup (p.Glu474fs)
|
rs1555955827
|
|
NM_001352514.2(HLCS):c.1434C>A (p.Cys478Ter)
|
rs2066882139
|
|
NM_001352514.2(HLCS):c.1437+1G>A
|
|
|
NM_001352514.2(HLCS):c.1439T>A (p.Val480Glu)
|
rs1198548955
|
|
NM_001352514.2(HLCS):c.1466_1472delinsGCA (p.Asn489fs)
|
|
|
NM_001352514.2(HLCS):c.1524C>G (p.Tyr508Ter)
|
|
|
NM_001352514.2(HLCS):c.1550_1551insT (p.Leu518fs)
|
|
|
NM_001352514.2(HLCS):c.1576C>T (p.Gln526Ter)
|
rs1393866282
|
|
NM_001352514.2(HLCS):c.1600_1604del (p.Tyr534fs)
|
|
|
NM_001352514.2(HLCS):c.1610C>A (p.Ser537Ter)
|
|
|
NM_001352514.2(HLCS):c.1620+1G>A
|
rs1555951858
|
|
NM_001352514.2(HLCS):c.1621-1G>C
|
rs1164174059
|
|
NM_001352514.2(HLCS):c.1621-2A>T
|
|
|
NM_001352514.2(HLCS):c.1631del (p.Asp544fs)
|
|
|
NM_001352514.2(HLCS):c.1642C>T (p.Gln548Ter)
|
rs2065045000
|
|
NM_001352514.2(HLCS):c.1646G>A (p.Trp549Ter)
|
rs1342457304
|
|
NM_001352514.2(HLCS):c.1658_1659del (p.His553fs)
|
|
|
NM_001352514.2(HLCS):c.1699_1700del (p.Ser566_Leu567insTer)
|
rs1555930523
|
|
NM_001352514.2(HLCS):c.1705_1733dup (p.Glu578delinsAspLeuPheHisProThrCysLeuLysTer)
|
|
|
NM_001352514.2(HLCS):c.1719C>A (p.Tyr573Ter)
|
rs148814769
|
|
NM_001352514.2(HLCS):c.1752_1759delinsTTT (p.Pro585fs)
|
|
|
NM_001352514.2(HLCS):c.1759_1760insCC (p.Val587fs)
|
|
|
NM_001352514.2(HLCS):c.1771G>T (p.Glu591Ter)
|
rs2065038117
|
|
NM_001352514.2(HLCS):c.1781C>G (p.Ser594Ter)
|
rs973578825
|
|
NM_001352514.2(HLCS):c.1858_1868del (p.Glu620fs)
|
|
|
NM_001352514.2(HLCS):c.1869del (p.Thr624fs)
|
rs2065031709
|
|
NM_001352514.2(HLCS):c.1892+1G>A
|
|
|
NM_001352514.2(HLCS):c.1902_1903del (p.Phe634fs)
|
|
|
NM_001352514.2(HLCS):c.1942del (p.Arg648fs)
|
|
|
NM_001352514.2(HLCS):c.1957A>T (p.Lys653Ter)
|
rs2090069178
|
|
NM_001352514.2(HLCS):c.1960+1G>A
|
rs2090068896
|
|
NM_001352514.2(HLCS):c.1961-2A>G
|
|
|
NM_001352514.2(HLCS):c.1974T>A (p.Asn658Lys)
|
|
|
NM_001352514.2(HLCS):c.2044G>T (p.Gly682Ter)
|
rs1324486146
|
|
NM_001352514.2(HLCS):c.2089G>A (p.Val697Met)
|
rs119103231
|
|
NM_001352514.2(HLCS):c.2092del (p.Glu698fs)
|
|
|
NM_001352514.2(HLCS):c.2114_2121+5del
|
|
|
NM_001352514.2(HLCS):c.2185G>A (p.Gly729Arg)
|
|
|
NM_001352514.2(HLCS):c.2201C>G (p.Ser734Ter)
|
rs2089755918
|
|
NM_001352514.2(HLCS):c.2237-2A>G
|
|
|
NM_001352514.2(HLCS):c.2237-56_2255del
|
rs2145732111
|
|
NM_001352514.2(HLCS):c.2280dup (p.Asn761fs)
|
rs1555882068
|
|
NM_001352514.2(HLCS):c.2341G>T (p.Asp781Tyr)
|
|
|
NM_001352514.2(HLCS):c.2450+2T>A
|
|
|
NM_001352514.2(HLCS):c.331-1G>C
|
|
|
NM_001352514.2(HLCS):c.476dup (p.Pro160fs)
|
|
|
NM_001352514.2(HLCS):c.494-1G>A
|
|
|
NM_001352514.2(HLCS):c.494-2A>T
|
|
|
NM_001352514.2(HLCS):c.513dup (p.Thr172fs)
|
|
|
NM_001352514.2(HLCS):c.542C>A (p.Ser181Ter)
|
rs2066942076
|
|
NM_001352514.2(HLCS):c.569_585delinsTTGCTTGAGATTAAGCCTGAGATTAAGG (p.Pro190_Ser195delinsLeuAlaTer)
|
rs1064796014
|
|
NM_001352514.2(HLCS):c.616del (p.Glu206fs)
|
|
|
NM_001352514.2(HLCS):c.664_667del (p.Gln222fs)
|
rs776431253
|
|
NM_001352514.2(HLCS):c.687del (p.Ser230fs)
|
|
|
NM_001352514.2(HLCS):c.726dup (p.Val243fs)
|
|
|
NM_001352514.2(HLCS):c.759C>A (p.Cys253Ter)
|
|
|
NM_001352514.2(HLCS):c.774_775insTGTTCTCGGCAGACGCAAA (p.Leu259fs)
|
|
|
NM_001352514.2(HLCS):c.794_795del (p.Glu265fs)
|
|
|
NM_001352514.2(HLCS):c.821_822insTTCCATTG (p.Ile275fs)
|
|
|
NM_001352514.2(HLCS):c.840C>A (p.Tyr280Ter)
|
rs779907293
|
|
NM_001352514.2(HLCS):c.857T>A (p.Leu286Ter)
|
rs144572349
|
|
NM_001352514.2(HLCS):c.857del (p.Leu286fs)
|
|
|
NM_001352514.2(HLCS):c.863del (p.Ser288fs)
|
rs1015594025
|
|
NM_001352514.2(HLCS):c.886G>T (p.Glu296Ter)
|
rs760029192
|
|
NM_001352514.2(HLCS):c.929del (p.Asn310fs)
|
|
|
NM_001352514.2(HLCS):c.958del (p.Gln320fs)
|
|
|
NM_001352514.2(HLCS):c.958dup (p.Gln320fs)
|
|
|
NM_001352514.2(HLCS):c.978_979insTGTCTCTTATACACAT (p.His327fs)
|
|
|
NM_001358263.1(HK1):c.1A>G (p.Met1Val)
|
rs1589439508
|
|
NM_001358263.1(HK1):c.1A>T (p.Met1Leu)
|
rs1589439508
|
|
NM_001360016.2(G6PD):c.1006A>G (p.Thr336Ala)
|
|
|
NM_001360016.2(G6PD):c.102CAT[2] (p.Ile36del)
|
rs137852338
|
|
NM_001360016.2(G6PD):c.1030G>A (p.Val344Met)
|
|
|
NM_001360016.2(G6PD):c.1052G>T (p.Gly351Val)
|
|
|
NM_001360016.2(G6PD):c.1063A>G (p.Ile355Val)
|
|
|
NM_001360016.2(G6PD):c.1067T>A (p.Leu356Gln)
|
|
|
NM_001360016.2(G6PD):c.1081G>A (p.Ala361Thr)
|
|
|
NM_001360016.2(G6PD):c.1084_1101del (p.Leu362_Ala367del)
|
|
|
NM_001360016.2(G6PD):c.1088A>T (p.Asn363Ile)
|
rs1557229736
|
|
NM_001360016.2(G6PD):c.1094G>A (p.Arg365His)
|
|
|
NM_001360016.2(G6PD):c.1132G>A (p.Gly378Ser)
|
|
|
NM_001360016.2(G6PD):c.1141T>C (p.Phe381Leu)
|
|
|
NM_001360016.2(G6PD):c.1154G>T (p.Cys385Phe)
|
|
|
NM_001360016.2(G6PD):c.1166A>G (p.Glu389Gly)
|
|
|
NM_001360016.2(G6PD):c.1175T>C (p.Ile392Thr)
|
|
|
NM_001360016.2(G6PD):c.1177C>T (p.Arg393Cys)
|
rs2148328873
|
|
NM_001360016.2(G6PD):c.1193A>G (p.Glu398Gly)
|
|
|
NM_001360016.2(G6PD):c.1229G>C (p.Gly410Ala)
|
|
|
NM_001360016.2(G6PD):c.1291G>A (p.Val431Met)
|
|
|
NM_001360016.2(G6PD):c.1315C>T (p.Arg439Cys)
|
rs2148328604
|
|
NM_001360016.2(G6PD):c.1318C>T (p.Leu440Phe)
|
rs1557229599
|
|
NM_001360016.2(G6PD):c.1330G>A (p.Val444Ile)
|
|
|
NM_001360016.2(G6PD):c.1340G>T (p.Gly447Val)
|
|
|
NM_001360016.2(G6PD):c.1342A>G (p.Ser448Gly)
|
|
|
NM_001360016.2(G6PD):c.1346A>G (p.Gln449Arg)
|
|
|
NM_001360016.2(G6PD):c.1351C>T (p.His451Tyr)
|
|
|
NM_001360016.2(G6PD):c.1358T>A (p.Val453Glu)
|
|
|
NM_001360016.2(G6PD):c.1361G>T (p.Arg454Leu)
|
|
|
NM_001360016.2(G6PD):c.1366G>C (p.Asp456His)
|
|
|
NM_001360016.2(G6PD):c.1367A>T (p.Asp456Val)
|
|
|
NM_001360016.2(G6PD):c.1372C>T (p.Leu458Phe)
|
|
|
NM_001360016.2(G6PD):c.1375C>G (p.Arg459Gly)
|
|
|
NM_001360016.2(G6PD):c.1375C>T (p.Arg459Cys)
|
rs2070346788
|
|
NM_001360016.2(G6PD):c.1376G>A (p.Arg459His)
|
rs72554665
|
|
NM_001360016.2(G6PD):c.1380G>C (p.Glu460Asp)
|
|
|
NM_001360016.2(G6PD):c.1381G>A (p.Ala461Thr)
|
|
|
NM_001360016.2(G6PD):c.1387C>A (p.Arg463Ser)
|
|
|
NM_001360016.2(G6PD):c.1387C>T (p.Arg463Cys)
|
|
|
NM_001360016.2(G6PD):c.1441C>G (p.Pro481Ala)
|
rs202122673
|
|
NM_001360016.2(G6PD):c.1457+7_1458-43del
|
|
|
NM_001360016.2(G6PD):c.148C>T (p.Pro50Ser)
|
|
|
NM_001360016.2(G6PD):c.1490_1492del (p.Lys497del)
|
|
|
NM_001360016.2(G6PD):c.152C>T (p.Thr51Ile)
|
rs2148332084
|
|
NM_001360016.2(G6PD):c.170G>A (p.Arg57Gln)
|
|
|
NM_001360016.2(G6PD):c.179T>C (p.Leu60Pro)
|
|
|
NM_001360016.2(G6PD):c.185C>A (p.Pro62His)
|
|
|
NM_001360016.2(G6PD):c.185C>T (p.Pro62Leu)
|
|
|
NM_001360016.2(G6PD):c.187G>A (p.Glu63Lys)
|
|
|
NM_001360016.2(G6PD):c.193A>G (p.Thr65Ala)
|
rs199474830
|
|
NM_001360016.2(G6PD):c.197T>G (p.Phe66Cys)
|
|
|
NM_001360016.2(G6PD):c.219C>T (p.Ser73=)
|
|
|
NM_001360016.2(G6PD):c.224T>C (p.Leu75Pro)
|
|
|
NM_001360016.2(G6PD):c.227C>A (p.Thr76Lys)
|
|
|
NM_001360016.2(G6PD):c.235G>C (p.Asp79His)
|
rs2148331875
|
|
NM_001360016.2(G6PD):c.274C>T (p.Pro92Ser)
|
|
|
NM_001360016.2(G6PD):c.290A>T (p.Lys97Met)
|
|
|
NM_001360016.2(G6PD):c.305T>C (p.Phe102Ser)
|
rs886044847
|
|
NM_001360016.2(G6PD):c.312C>T (p.Arg104=)
|
|
|
NM_001360016.2(G6PD):c.34G>T (p.Val12Leu)
|
|
|
NM_001360016.2(G6PD):c.352T>C (p.Tyr118His)
|
|
|
NM_001360016.2(G6PD):c.353A>C (p.Tyr118Ser)
|
rs2148331380
|
|
NM_001360016.2(G6PD):c.356A>C (p.Gln119Pro)
|
|
|
NM_001360016.2(G6PD):c.371A>G (p.His124Arg)
|
|
|
NM_001360016.2(G6PD):c.376A>T (p.Asn126Tyr)
|
rs1050829
|
|
NM_001360016.2(G6PD):c.383T>G (p.Leu128Arg)
|
rs78365220
|
|
NM_001360016.2(G6PD):c.407G>A (p.Arg136His)
|
|
|
NM_001360016.2(G6PD):c.409C>T (p.Leu137Phe)
|
|
|
NM_001360016.2(G6PD):c.442G>A (p.Glu148Lys)
|
|
|
NM_001360016.2(G6PD):c.448G>A (p.Val150Ile)
|
rs1557230573
|
|
NM_001360016.2(G6PD):c.463C>G (p.His155Asp)
|
|
|
NM_001360016.2(G6PD):c.464A>C (p.His155Pro)
|
|
|
NM_001360016.2(G6PD):c.473G>A (p.Cys158Tyr)
|
|
|
NM_001360016.2(G6PD):c.485+184del
|
|
|
NM_001360016.2(G6PD):c.486-17C>T
|
|
|
NM_001360016.2(G6PD):c.486-17del
|
|
|
NM_001360016.2(G6PD):c.488G>A (p.Gly163Asp)
|
|
|
NM_001360016.2(G6PD):c.496C>T (p.Arg166Cys)
|
|
|
NM_001360016.2(G6PD):c.497G>A (p.Arg166His)
|
|
|
NM_001360016.2(G6PD):c.514C>T (p.Pro172Ser)
|
|
|
NM_001360016.2(G6PD):c.527A>G (p.Asp176Gly)
|
|
|
NM_001360016.2(G6PD):c.573C>G (p.Phe191Leu)
|
|
|
NM_001360016.2(G6PD):c.585G>C (p.Gln195His)
|
|
|
NM_001360016.2(G6PD):c.586A>T (p.Ile196Phe)
|
|
|
NM_001360016.2(G6PD):c.592C>A (p.Arg198Ser)
|
|
|
NM_001360016.2(G6PD):c.595A>G (p.Ile199Val)
|
|
|
NM_001360016.2(G6PD):c.598G>A (p.Asp200Asn)
|
|
|
NM_001360016.2(G6PD):c.611G>A (p.Gly204Asp)
|
rs2148330566
|
|
NM_001360016.2(G6PD):c.634A>G (p.Met212Val)
|
|
|
NM_001360016.2(G6PD):c.655A>G (p.Arg219Gly)
|
|
|
NM_001360016.2(G6PD):c.683ACA[1] (p.Asn229del)
|
|
|
NM_001360016.2(G6PD):c.691G>C (p.Ala231Pro)
|
|
|
NM_001360016.2(G6PD):c.695G>A (p.Cys232Tyr)
|
|
|
NM_001360016.2(G6PD):c.697G>C (p.Val233Leu)
|
|
|
NM_001360016.2(G6PD):c.725_730del (p.Gly242_Thr243del)
|
|
|
NM_001360016.2(G6PD):c.737G>T (p.Arg246Leu)
|
|
|
NM_001360016.2(G6PD):c.739G>A (p.Gly247Arg)
|
|
|
NM_001360016.2(G6PD):c.743G>A (p.Gly248Asp)
|
|
|
NM_001360016.2(G6PD):c.769C>G (p.Arg257Gly)
|
rs2070375134
|
|
NM_001360016.2(G6PD):c.770G>T (p.Arg257Leu)
|
|
|
NM_001360016.2(G6PD):c.7G>A (p.Glu3Lys)
|
|
|
NM_001360016.2(G6PD):c.811G>C (p.Val271Leu)
|
|
|
NM_001360016.2(G6PD):c.820G>A (p.Glu274Lys)
|
|
|
NM_001360016.2(G6PD):c.821A>T (p.Glu274Val)
|
|
|
NM_001360016.2(G6PD):c.825G>C (p.Lys275Asn)
|
|
|
NM_001360016.2(G6PD):c.826C>T (p.Pro276Ser)
|
|
|
NM_001360016.2(G6PD):c.832T>C (p.Ser278Pro)
|
|
|
NM_001360016.2(G6PD):c.833C>T (p.Ser278Phe)
|
|
|
NM_001360016.2(G6PD):c.835A>G (p.Thr279Ala)
|
|
|
NM_001360016.2(G6PD):c.835A>T (p.Thr279Ser)
|
rs2148329890
|
|
NM_001360016.2(G6PD):c.844G>T (p.Asp282Tyr)
|
|
|
NM_001360016.2(G6PD):c.851T>C (p.Val284Ala)
|
|
|
NM_001360016.2(G6PD):c.853C>T (p.Arg285Cys)
|
|
|
NM_001360016.2(G6PD):c.864+43G>A
|
|
|
NM_001360016.2(G6PD):c.864+44del
|
|
|
NM_001360016.2(G6PD):c.910G>T (p.Val304Phe)
|
|
|
NM_001360016.2(G6PD):c.920A>C (p.Gln307Pro)
|
|
|
NM_001360016.2(G6PD):c.921G>C (p.Gln307His)
|
|
|
NM_001360016.2(G6PD):c.94C>G (p.His32Asp)
|
|
|
NM_001360016.2(G6PD):c.94C>T (p.His32Tyr)
|
rs2070702973
|
|
NM_001360016.2(G6PD):c.962G>A (p.Gly321Glu)
|
|
|
NM_001360016.2(G6PD):c.995C>T (p.Ser332Phe)
|
|
|
NM_001360016.2(G6PD):c.[1037A>T;637G>T]
|
|
|
NM_001360016.2(G6PD):c.[1048G>C;406C>T]
|
|
|
NM_001360016.2(G6PD):c.[1159C>T;376A>G]
|
|
|
NM_001360016.2(G6PD):c.[1264C>G;202G>A376A>G]
|
|
|
NM_001360016.2(G6PD):c.[1347G>C;1360C>T]
|
|
|
NM_001360016.2(G6PD):c.[1376G>T;1502T>G]
|
|
|
NM_001360016.2(G6PD):c.[143T>C;202G>A]
|
|
|
NM_001360016.2(G6PD):c.[143T>C;563C>T]
|
|
|
NM_001360016.2(G6PD):c.[202G>A;871G>A]
|
|
|
NM_001360016.2(G6PD):c.[375G>T;379G>T383T>C384C>T]
|
|
|
NM_001360016.2(G6PD):c.[376A>G;463C>G]
|
|
|
NM_001360016.2(G6PD):c.[376A>G;680G>T]
|
|
|
NM_001360016.2(G6PD):c.[376A>G;871G>A]
|
|
|
NM_001360016.2(G6PD):c.[769C>A;770G>T]
|
|
|
NM_001365304.2(LOC112694756):c.*1133+2T>C
|
|
|
NM_001365304.2(LOC112694756):c.*1134-2A>G
|
|
|
NM_001367721.1(CASK):c.2317+5G>A
|
rs2147095645
|
|
NM_001370658.1(BTD):c.-17+1G>A
|
rs1057516440
|
|
NM_001370658.1(BTD):c.-17+1G>C
|
rs1057516440
|
|
NM_001370658.1(BTD):c.-17+1G>T
|
rs1057516440
|
|
NM_001370658.1(BTD):c.-17+1del
|
rs1057517114
|
|
NM_001370658.1(BTD):c.-17_-17+3del
|
rs1050514843
|
|
NM_001370658.1(BTD):c.-18A>T
|
rs143058480
|
|
NM_001370658.1(BTD):c.-24A>T
|
|
|
NM_001370658.1(BTD):c.1025T>A (p.Leu342Ter)
|
rs747548016
|
|
NM_001370658.1(BTD):c.1069G>T (p.Glu357Ter)
|
rs1057516252
|
|
NM_001370658.1(BTD):c.1098G>A (p.Trp366Ter)
|
rs397514434
|
|
NM_001370658.1(BTD):c.1110_1111dup (p.Pro371fs)
|
rs1057517256
|
|
NM_001370658.1(BTD):c.1167_1181delinsTTCCAATGGCC (p.Trp389fs)
|
rs672601248
|
|
NM_001370658.1(BTD):c.1181_1192del (p.Tyr394_Val397del)
|
rs397514404
|
|
NM_001370658.1(BTD):c.1192T>C (p.Cys398Arg)
|
rs397514408
|
|
NM_001370658.1(BTD):c.1211G>A (p.Cys404Tyr)
|
rs397514335
|
|
NM_001370658.1(BTD):c.1247_1248del (p.Glu416fs)
|
rs1057517225
|
|
NM_001370658.1(BTD):c.1252T>C (p.Tyr418His)
|
|
|
NM_001370658.1(BTD):c.1253A>G (p.Tyr418Cys)
|
rs397514415
|
|
NM_001370658.1(BTD):c.1254T>A (p.Tyr418Ter)
|
rs397514416
|
|
NM_001370658.1(BTD):c.1259T>C (p.Leu420Pro)
|
rs1575031012
|
|
NM_001370658.1(BTD):c.125T>C (p.Val42Ala)
|
|
|
NM_001370658.1(BTD):c.1264del (p.Val422fs)
|
rs1057517362
|
|
NM_001370658.1(BTD):c.1271A>G (p.Asp424Gly)
|
rs2065662435
|
|
NM_001370658.1(BTD):c.1279C>T (p.His427Tyr)
|
rs397514418
|
|
NM_001370658.1(BTD):c.1292_1293del (p.Gly431fs)
|
rs1553654142
|
|
NM_001370658.1(BTD):c.1298dup (p.Tyr433Ter)
|
rs1553654145
|
|
NM_001370658.1(BTD):c.1300T>G (p.Tyr434Asp)
|
|
|
NM_001370658.1(BTD):c.1309G>T (p.Val437Leu)
|
rs146600671
|
|
NM_001370658.1(BTD):c.1334dup (p.Leu446fs)
|
rs397514440
|
|
NM_001370658.1(BTD):c.1350dup (p.Cys451fs)
|
rs886041559
|
|
NM_001370658.1(BTD):c.1352G>T (p.Cys451Phe)
|
|
|
NM_001370658.1(BTD):c.1372G>C (p.Ala458Pro)
|
rs181396238
|
|
NM_001370658.1(BTD):c.1386dup (p.Glu463Ter)
|
|
|
NM_001370658.1(BTD):c.1387G>T (p.Glu463Ter)
|
rs1559600871
|
|
NM_001370658.1(BTD):c.1396_1415del (p.Leu466fs)
|
rs1553654178
|
|
NM_001370658.1(BTD):c.1399del (p.Trp467fs)
|
rs397514423
|
|
NM_001370658.1(BTD):c.1400G>A (p.Trp467Ter)
|
rs1277029090
|
|
NM_001370658.1(BTD):c.1401G>A (p.Trp467Ter)
|
rs1553654186
|
|
NM_001370658.1(BTD):c.1406A>G (p.Asn469Ser)
|
|
|
NM_001370658.1(BTD):c.1415C>T (p.Thr472Ile)
|
rs796051941
|
|
NM_001370658.1(BTD):c.1419del (p.Tyr474fs)
|
rs1559600938
|
|
NM_001370658.1(BTD):c.142_145dup (p.Leu49fs)
|
rs1205964567
|
|
NM_001370658.1(BTD):c.1466C>G (p.Pro489Arg)
|
rs1559601041
|
|
NM_001370658.1(BTD):c.1495dup (p.Tyr499fs)
|
rs1553654220
|
|
NM_001370658.1(BTD):c.1503del (p.Arg502fs)
|
rs1163419871
|
|
NM_001370658.1(BTD):c.1550G>A (p.Gly517Glu)
|
rs397514428
|
|
NM_001370658.1(BTD):c.1552C>A (p.Arg518Ser)
|
rs80338686
|
|
NM_001370658.1(BTD):c.1568A>G (p.Asp523Gly)
|
rs1050035768
|
|
NM_001370658.1(BTD):c.167del (p.Leu56fs)
|
|
|
NM_001370658.1(BTD):c.177_178del (p.Gln60fs)
|
|
|
NM_001370658.1(BTD):c.218A>G (p.Tyr73Cys)
|
rs397514348
|
|
NM_001370658.1(BTD):c.220G>T (p.Glu74Ter)
|
|
|
NM_001370658.1(BTD):c.229G>A (p.Val77Met)
|
|
|
NM_001370658.1(BTD):c.238G>A (p.Ala80Thr)
|
rs397514350
|
|
NM_001370658.1(BTD):c.250-1G>T
|
rs1553653053
|
|
NM_001370658.1(BTD):c.253G>A (p.Val85Ile)
|
|
|
NM_001370658.1(BTD):c.256C>T (p.Gln86Ter)
|
rs1553653062
|
|
NM_001370658.1(BTD):c.270del (p.Pro91fs)
|
|
|
NM_001370658.1(BTD):c.274G>C (p.Glu92Gln)
|
rs397514352
|
|
NM_001370658.1(BTD):c.312_315dup (p.Tyr106fs)
|
rs1057516223
|
|
NM_001370658.1(BTD):c.333del (p.Phe111fs)
|
rs397514356
|
|
NM_001370658.1(BTD):c.364C>A (p.Pro122Thr)
|
rs397514357
|
|
NM_001370658.1(BTD):c.364C>T (p.Pro122Ser)
|
|
|
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs)
|
rs80338684
|
|
NM_001370658.1(BTD):c.399G>A (p.Glu133=)
|
rs397514360
|
|
NM_001370658.1(BTD):c.416G>A (p.Ser139Asn)
|
rs144717999
|
|
NM_001370658.1(BTD):c.419G>A (p.Cys140Tyr)
|
|
|
NM_001370658.1(BTD):c.419G>C (p.Cys140Ser)
|
|
|
NM_001370658.1(BTD):c.41_44del (p.Gly14fs)
|
rs1249246307
|
|
NM_001370658.1(BTD):c.44_45del (p.Cys15fs)
|
rs750965140
|
|
NM_001370658.1(BTD):c.466A>T (p.Lys156Ter)
|
|
|
NM_001370658.1(BTD):c.47dup (p.Tyr16Ter)
|
rs1057516812
|
|
NM_001370658.1(BTD):c.496T>C (p.Cys166Arg)
|
rs955385869
|
|
NM_001370658.1(BTD):c.496T>G (p.Cys166Gly)
|
rs955385869
|
|
NM_001370658.1(BTD):c.522C>G (p.Phe174Leu)
|
rs750363004
|
|
NM_001370658.1(BTD):c.524A>G (p.Asn175Ser)
|
rs397514371
|
|
NM_001370658.1(BTD):c.527del (p.Thr176fs)
|
rs1553653680
|
|
NM_001370658.1(BTD):c.528_542del (p.Val178_Asn182del)
|
rs1575029290
|
|
NM_001370658.1(BTD):c.52del (p.Val18fs)
|
|
|
NM_001370658.1(BTD):c.545A>T (p.Asn182Ile)
|
rs397514376
|
|
NM_001370658.1(BTD):c.550G>A (p.Gly184Arg)
|
|
|
NM_001370658.1(BTD):c.569A>G (p.Tyr190Cys)
|
rs397507174
|
|
NM_001370658.1(BTD):c.589_591delinsAGTA (p.Phe197fs)
|
rs1553653732
|
|
NM_001370658.1(BTD):c.58_59del (p.Leu20fs)
|
rs1553652080
|
|
NM_001370658.1(BTD):c.594G>C (p.Glu198Asp)
|
rs397514379
|
|
NM_001370658.1(BTD):c.59T>C (p.Leu20Pro)
|
|
|
NM_001370658.1(BTD):c.622G>T (p.Asp208Tyr)
|
rs397514380
|
|
NM_001370658.1(BTD):c.640A>G (p.Thr214Ala)
|
|
|
NM_001370658.1(BTD):c.641C>T (p.Thr214Ile)
|
rs587783005
|
|
NM_001370658.1(BTD):c.675C>A (p.Cys225Ter)
|
|
|
NM_001370658.1(BTD):c.682A>C (p.Ile228Leu)
|
rs398123140
|
|
NM_001370658.1(BTD):c.698C>T (p.Pro233Leu)
|
rs397514438
|
|
NM_001370658.1(BTD):c.705C>G (p.Ile235Met)
|
rs1575029719
|
|
NM_001370658.1(BTD):c.710T>A (p.Val237Asp)
|
rs1190721481
|
|
NM_001370658.1(BTD):c.755G>A (p.Trp252Ter)
|
rs148031701
|
|
NM_001370658.1(BTD):c.773T>C (p.Leu258Pro)
|
rs397514389
|
|
NM_001370658.1(BTD):c.799del (p.Ala267fs)
|
|
|
NM_001370658.1(BTD):c.806C>T (p.Ala269Val)
|
rs1057520533
|
|
NM_001370658.1(BTD):c.827T>G (p.Val276Gly)
|
rs397514391
|
|
NM_001370658.1(BTD):c.835G>C (p.Ala279Pro)
|
rs1157567876
|
|
NM_001370658.1(BTD):c.875G>T (p.Gly292Val)
|
|
|
NM_001370658.1(BTD):c.881A>T (p.His294Leu)
|
|
|
NM_001370658.1(BTD):c.920dup (p.Asn307fs)
|
|
|
NM_001370658.1(BTD):c.932_941del (p.His311fs)
|
rs773137513
|
|
NM_001543.5(NDST1):c.1918T>C (p.Phe640Leu)
|
rs606231458
|
|
NM_001739.2(CA5A):c.580C>T (p.Gln194Ter)
|
rs2055884613
|
|
NM_001739.2(CA5A):c.618+1G>T
|
|
|
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.337C>T (p.Gln113Ter)
|
rs1200339761
|
|
NM_001931.5(DLAT):c.381+1G>T
|
|
|
NM_001931.5(DLAT):c.470T>G (p.Val157Gly)
|
rs797044957
|
|
NM_001931.5(DLAT):c.848_849del (p.Asp283fs)
|
rs782704553
|
|
NM_002076.4(GNS):c.1019A>G (p.Lys340Arg)
|
|
|
NM_002076.4(GNS):c.1098+1G>A
|
|
|
NM_002076.4(GNS):c.1200+1G>T
|
|
|
NM_002076.4(GNS):c.1200+2T>A
|
rs2136240508
|
|
NM_002076.4(GNS):c.236_252+8del
|
rs2136253236
|
|
NM_002076.4(GNS):c.252+1G>T
|
rs368414819
|
|
NM_002076.4(GNS):c.616_617del (p.Asp206fs)
|
|
|
NM_002076.4(GNS):c.625-1G>A
|
|
|
NM_002076.4(GNS):c.625-2A>G
|
rs2136247666
|
|
NM_002076.4(GNS):c.714G>A (p.Trp238Ter)
|
|
|
NM_002076.4(GNS):c.792+1G>A
|
|
|
NM_002076.4(GNS):c.995-2A>C
|
|
|
NM_002103.5(GYS1):c.1063-2A>G
|
|
|
NM_002103.5(GYS1):c.1229+1G>A
|
rs111911126
|
|
NM_002103.5(GYS1):c.1645+1G>A
|
|
|
NM_002103.5(GYS1):c.1A>C (p.Met1Leu)
|
rs748334413
|
|
NM_002103.5(GYS1):c.301-2A>C
|
rs2122525708
|
|
NM_002103.5(GYS1):c.678+2T>G
|
rs2122520177
|
|
NM_002294.2(LAMP2):c.(?_398)-60_(741_?)+68del
|
|
|
NM_002294.2(LAMP2):c.(?_929)_(1233_?)del
|
|
|
NM_002294.3(LAMP2):c.1082del (p.Lys361fs)
|
rs1436664364
|
|
NM_002294.3(LAMP2):c.128_129dup (p.Ala44fs)
|
rs730880344
|
|
NM_002294.3(LAMP2):c.183_183+4del
|
|
|
NM_002294.3(LAMP2):c.183dup (p.Lys62Ter)
|
|
|
NM_002294.3(LAMP2):c.190_191del (p.Val64fs)
|
rs1569371330
|
|
NM_002294.3(LAMP2):c.2T>C (p.Met1Thr)
|
|
|
NM_002294.3(LAMP2):c.3G>A (p.Met1Ile)
|
rs2147294924
|
|
NM_002294.3(LAMP2):c.463del (p.Ser155fs)
|
rs193922649
|
|
NM_002294.3(LAMP2):c.65-1G>C
|
rs730880496
|
|
NM_002294.3(LAMP2):c.768del (p.Asn257fs)
|
rs2147281483
|
|
NM_002294.3(LAMP2):c.795C>A (p.Cys265Ter)
|
rs730880483
|
|
NM_002294.3(LAMP2):c.864G>A (p.Val288=)
|
rs2147281364
|
|
NM_002294.3(LAMP2):c.912T>G (p.Tyr304Ter)
|
rs876657648
|
|
NM_002294.3(LAMP2):c.929-1G>A
|
rs727504262
|
|
NM_002299.4(LCT):c.1692_1696del (p.Val565fs)
|
rs386833832
|
|
NM_002299.4(LCT):c.4363C>T (p.Arg1455Cys)
|
rs763006562
|
|
NM_002299.4(LCT):c.4419C>G (p.Tyr1473Ter)
|
rs386833834
|
|
NM_002299.4(LCT):c.4834G>T (p.Glu1612Ter)
|
rs386833835
|
|
NM_002299.4(LCT):c.4866+2T>G
|
|
|
NM_002299.4(LCT):c.4950C>A (p.Ser1650Arg)
|
rs1312031160
|
|
NM_002299.4(LCT):c.4998_5001del (p.Ser1666fs)
|
rs386833836
|
|
NM_002299.4(LCT):c.5387del (p.Asp1796fs)
|
rs386833837
|
|
NM_002299.4(LCT):c.653_654del (p.Ser218fs)
|
rs386833838
|
|
NM_002637.4(PHKA1):c.238-2A>T
|
|
|
NM_002637.4(PHKA1):c.678_684del (p.Val227fs)
|
rs2053626907
|
|
NM_002637.4(PHKA1):c.919-2A>G
|
rs2147766482
|
|
NM_002653.5(PITX1):c.412A>C (p.Lys138Gln)
|
rs1752408637
|
|
NM_002768.5(CHMP1A):c.346G>A (p.Glu116Lys)
|
rs1064794609
|
|
NM_002863.5(PYGL):c.1334T>C (p.Leu445Pro)
|
rs2050437440
|
|
NM_002863.5(PYGL):c.1722C>A (p.Tyr574Ter)
|
|
|
NM_002863.5(PYGL):c.176C>A (p.Thr59Lys)
|
rs150483902
|
|
NM_002863.5(PYGL):c.1820G>T (p.Gly607Val)
|
|
|
NM_002863.5(PYGL):c.1831G>A (p.Ala611Thr)
|
rs767847163
|
|
NM_002863.5(PYGL):c.2071G>C (p.Gly691Arg)
|
rs539898848
|
|
NM_002863.5(PYGL):c.2084G>A (p.Gly695Glu)
|
|
|
NM_002863.5(PYGL):c.2177+2T>C
|
rs1368182301
|
|
NM_002863.5(PYGL):c.2483T>G (p.Val828Gly)
|
|
|
NM_002863.5(PYGL):c.361G>T (p.Glu121Ter)
|
|
|
NM_002863.5(PYGL):c.407dup (p.Leu137fs)
|
|
|
NM_002863.5(PYGL):c.472T>C (p.Tyr158His)
|
|
|
NM_002863.5(PYGL):c.715_716del (p.Val239fs)
|
|
|
NM_002863.5(PYGL):c.916C>T (p.Gln306Ter)
|
|
|
NM_003041.4(SLC5A2):c.1152_1163del (p.Val385_Ala388del)
|
rs770588592
|
|
NM_003041.4(SLC5A2):c.1153_1162del (p.Val385fs)
|
|
|
NM_003041.4(SLC5A2):c.1345G>T (p.Gly449Cys)
|
rs773289713
|
|
NM_003041.4(SLC5A2):c.1451G>A (p.Gly484Asp)
|
rs1309307492
|
|
NM_003051.4(SLC16A1):c.328C>T (p.Gln110Ter)
|
rs1570623881
|
|
NM_003384.2(VRK1):c.318_889+1945del
|
|
|
NM_003384.3(VRK1):c.1066A>T (p.Lys356Ter)
|
rs1223645705
|
|
NM_003384.3(VRK1):c.1069-2A>G
|
|
|
NM_003384.3(VRK1):c.1094del (p.Ser365fs)
|
rs2139845854
|
|
NM_003384.3(VRK1):c.1113_1117del (p.Glu371fs)
|
rs2139845924
|
|
NM_003384.3(VRK1):c.156_160+3del
|
rs1566696845
|
|
NM_003384.3(VRK1):c.160+1G>T
|
rs2139749072
|
|
NM_003384.3(VRK1):c.161-2A>G
|
|
|
NM_003384.3(VRK1):c.216+1G>A
|
|
|
NM_003384.3(VRK1):c.236C>T (p.Pro79Leu)
|
rs2139779062
|
|
NM_003384.3(VRK1):c.287-2A>C
|
|
|
NM_003384.3(VRK1):c.374+1G>T
|
|
|
NM_003384.3(VRK1):c.402_890-895del
|
|
|
NM_003384.3(VRK1):c.483+1G>A
|
|
|
NM_003384.3(VRK1):c.576+1G>A
|
|
|
NM_003384.3(VRK1):c.637T>C (p.Tyr213His)
|
rs1595676477
|
|
NM_003384.3(VRK1):c.706G>A (p.Val236Met)
|
rs771364038
|
|
NM_003384.3(VRK1):c.710-1G>A
|
|
|
NM_003384.3(VRK1):c.788A>G (p.Asp263Gly)
|
rs1428656431
|
|
NM_003384.3(VRK1):c.812T>C (p.Val271Ala)
|
rs2139804166
|
|
NM_003384.3(VRK1):c.830+1G>C
|
|
|
NM_003384.3(VRK1):c.889+1G>A
|
rs1482696609
|
|
NM_003384.3(VRK1):c.976C>T (p.Gln326Ter)
|
rs1566713184
|
|
NM_003477.3(PDHX):c.1012dup (p.Val338fs)
|
|
|
NM_003477.3(PDHX):c.134G>A (p.Trp45Ter)
|
rs1064796807
|
|
NM_003477.3(PDHX):c.557del (p.Pro186fs)
|
|
|
NM_003477.3(PDHX):c.791C>G (p.Ser264Ter)
|
|
|
NM_003477.3(PDHX):c.793dup (p.Thr265fs)
|
rs1057518180
|
|
NM_003619.4(PRSS12):c.1501A>T (p.Arg501Ter)
|
|
|
NM_003619.4(PRSS12):c.441_442del (p.Trp148fs)
|
rs760638778
|
|
NM_003754.3(EIF3F):c.671C>T (p.Pro224Leu)
|
rs1185010700
|
|
NM_004130.4(GYG1):c.3G>C (p.Met1Ile)
|
rs1365446658
|
|
NM_004130.4(GYG1):c.482-1G>C
|
|
|
NM_004130.4(GYG1):c.7+2T>C
|
|
|
NM_004830.4(MED23):c.1181C>T (p.Pro394Leu)
|
rs1775982467
|
|
NM_004830.4(MED23):c.2368_2371del (p.Leu790fs)
|
rs760262127
|
|
NM_005271.5(GLUD1):c.1496G>C (p.Gly499Ala)
|
rs121909734
|
|
NM_005271.5(GLUD1):c.1498G>A (p.Ala500Thr)
|
rs797045597
|
|
NM_005271.5(GLUD1):c.1519C>T (p.His507Tyr)
|
rs121909730
|
|
NM_005271.5(GLUD1):c.943C>T (p.His315Tyr)
|
|
|
NM_005271.5(GLUD1):c.965G>A (p.Arg322His)
|
rs121909737
|
|
NM_005327.7(HADH):c.100G>C (p.Gly34Arg)
|
rs779135938
|
|
NM_005327.7(HADH):c.130C>T (p.Gln44Ter)
|
|
|
NM_005327.7(HADH):c.166_169del (p.Val56fs)
|
|
|
NM_005327.7(HADH):c.261+1G>A
|
rs1398546361
|
|
NM_005327.7(HADH):c.261+2T>A
|
|
|
NM_005327.7(HADH):c.262-2A>G
|
|
|
NM_005327.7(HADH):c.374_375insTTCA (p.Lys125fs)
|
rs766656997
|
|
NM_005327.7(HADH):c.380A>G (p.Lys127Arg)
|
rs1735626197
|
|
NM_005327.7(HADH):c.419+1G>C
|
|
|
NM_005327.7(HADH):c.424dup (p.Thr142fs)
|
|
|
NM_005327.7(HADH):c.434C>A (p.Ala145Asp)
|
|
|
NM_005327.7(HADH):c.587del (p.Ser196fs)
|
rs745727504
|
|
NM_005327.7(HADH):c.636+2T>C
|
|
|
NM_005327.7(HADH):c.636+2_636+3insCT
|
rs2126234552
|
|
NM_005327.7(HADH):c.688G>A (p.Ala230Thr)
|
rs780574282
|
|
NM_005327.7(HADH):c.709+2T>C
|
|
|
NM_005327.7(HADH):c.710-822C>T
|
rs183387994
|
|
NM_005536.4(IMPA1):c.817C>T (p.Arg273Ter)
|
rs1308325707
|
|
NM_005566.4(LDHA):c.126+2T>C
|
|
|
NM_005566.4(LDHA):c.244G>A (p.Asp82Asn)
|
|
|
NM_005609.4(PYGM):c.1044_1050dup (p.Met351fs)
|
|
|
NM_005609.4(PYGM):c.1044del (p.Glu349fs)
|
rs1592412131
|
|
NM_005609.4(PYGM):c.1092+1G>C
|
rs749560316
|
|
NM_005609.4(PYGM):c.1093-1G>T
|
rs1163710370
|
|
NM_005609.4(PYGM):c.1093-2A>T
|
|
|
NM_005609.4(PYGM):c.110A>G (p.His37Arg)
|
rs1170598133
|
|
NM_005609.4(PYGM):c.1119T>A (p.Cys373Ter)
|
rs2058377004
|
|
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.120_121insA (p.Val41fs)
|
|
|
NM_005609.4(PYGM):c.1239+1G>T
|
rs759657964
|
|
NM_005609.4(PYGM):c.1240-2A>G
|
rs1212333772
|
|
NM_005609.4(PYGM):c.125del (p.Lys42fs)
|
|
|
NM_005609.4(PYGM):c.1275dup (p.Leu426fs)
|
|
|
NM_005609.4(PYGM):c.1278_1288dup (p.Ser430fs)
|
rs2058372554
|
|
NM_005609.4(PYGM):c.1362_1394del (p.Asn454_Leu464del)
|
|
|
NM_005609.4(PYGM):c.1363G>C (p.Gly455Arg)
|
|
|
NM_005609.4(PYGM):c.1403+1dup
|
|
|
NM_005609.4(PYGM):c.1446_1447dup (p.Lys483fs)
|
|
|
NM_005609.4(PYGM):c.1466dup (p.Arg490fs)
|
rs886041476
|
|
NM_005609.4(PYGM):c.1468C>T (p.Arg490Trp)
|
|
|
NM_005609.4(PYGM):c.1469G>C (p.Arg490Pro)
|
|
|
NM_005609.4(PYGM):c.1507del (p.Val503fs)
|
rs1272600960
|
|
NM_005609.4(PYGM):c.1519-1G>A
|
rs2135831491
|
|
NM_005609.4(PYGM):c.1527_1530delinsTGA (p.Asp511fs)
|
rs1057516612
|
|
NM_005609.4(PYGM):c.152A>G (p.Asp51Gly)
|
rs397514631
|
|
NM_005609.4(PYGM):c.1620+1G>A
|
rs1256894448
|
|
NM_005609.4(PYGM):c.1620+1G>T
|
|
|
NM_005609.4(PYGM):c.1636_1639del (p.Phe546fs)
|
|
|
NM_005609.4(PYGM):c.1680del (p.Asn561fs)
|
rs1057516259
|
|
NM_005609.4(PYGM):c.1717G>T (p.Glu573Ter)
|
rs752848974
|
|
NM_005609.4(PYGM):c.1722T>G (p.Tyr574Ter)
|
rs119103260
|
|
NM_005609.4(PYGM):c.1732CTC[1] (p.Leu579del)
|
rs1592409633
|
|
NM_005609.4(PYGM):c.1742del (p.Cys581fs)
|
rs1592409631
|
|
NM_005609.4(PYGM):c.1769-1G>A
|
rs2058357329
|
|
NM_005609.4(PYGM):c.1769G>A (p.Arg590His)
|
|
|
NM_005609.4(PYGM):c.1797del (p.Phe599fs)
|
rs769960481
|
|
NM_005609.4(PYGM):c.1827+1G>C
|
rs1057517442
|
|
NM_005609.4(PYGM):c.1828-1G>A
|
|
|
NM_005609.4(PYGM):c.1828-1G>T
|
|
|
NM_005609.4(PYGM):c.1828-2A>G
|
rs2135829883
|
|
NM_005609.4(PYGM):c.194dup (p.Arg67fs)
|
|
|
NM_005609.4(PYGM):c.1969+1G>A
|
|
|
NM_005609.4(PYGM):c.1969+1G>C
|
|
|
NM_005609.4(PYGM):c.1969+1G>T
|
rs753181427
|
|
NM_005609.4(PYGM):c.1970-1G>A
|
rs1057516598
|
|
NM_005609.4(PYGM):c.1970-2A>C
|
|
|
NM_005609.4(PYGM):c.1979C>A (p.Ala660Asp)
|
|
|
NM_005609.4(PYGM):c.198del (p.Arg67fs)
|
rs750857876
|
|
NM_005609.4(PYGM):c.1996C>G (p.Gln666Glu)
|
rs119103256
|
|
NM_005609.4(PYGM):c.1A>G (p.Met1Val)
|
rs267606993
|
|
NM_005609.4(PYGM):c.204G>A (p.Trp68Ter)
|
rs1057516349
|
|
NM_005609.4(PYGM):c.2057G>A (p.Gly686Glu)
|
|
|
NM_005609.4(PYGM):c.2082C>A (p.Asp694Glu)
|
rs773543072
|
|
NM_005609.4(PYGM):c.2083G>T (p.Gly695Trp)
|
|
|
NM_005609.4(PYGM):c.2125TTC[1] (p.Phe710del)
|
rs527236147
|
|
NM_005609.4(PYGM):c.2136dup (p.Gly713fs)
|
rs1057517067
|
|
NM_005609.4(PYGM):c.2177+1G>A
|
rs751875471
|
|
NM_005609.4(PYGM):c.2177+1G>T
|
|
|
NM_005609.4(PYGM):c.217C>T (p.Gln73Ter)
|
rs1057517361
|
|
NM_005609.4(PYGM):c.219_220del (p.His74fs)
|
rs1555136752
|
|
NM_005609.4(PYGM):c.21_28dup (p.Lys10fs)
|
rs770037766
|
|
NM_005609.4(PYGM):c.2231_2244del (p.Glu744fs)
|
rs1057517058
|
|
NM_005609.4(PYGM):c.2259dup (p.Lys754fs)
|
rs1565531453
|
|
NM_005609.4(PYGM):c.2262del (p.Lys754fs)
|
rs398124210
|
|
NM_005609.4(PYGM):c.2274del (p.Phe759fs)
|
|
|
NM_005609.4(PYGM):c.2313-1G>A
|
|
|
NM_005609.4(PYGM):c.2319del (p.Val774fs)
|
rs1462767117
|
|
NM_005609.4(PYGM):c.2363_2366del (p.Val788fs)
|
rs1565531128
|
|
NM_005609.4(PYGM):c.2379+1G>A
|
|
|
NM_005609.4(PYGM):c.2379+2_2379+3delinsAT
|
rs2135823216
|
|
NM_005609.4(PYGM):c.2380-1G>A
|
rs1555133248
|
|
NM_005609.4(PYGM):c.2380-2A>G
|
|
|
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg)
|
rs119103258
|
|
NM_005609.4(PYGM):c.244-1G>A
|
rs2135840980
|
|
NM_005609.4(PYGM):c.247A>T (p.Ile83Phe)
|
|
|
NM_005609.4(PYGM):c.251_261del (p.Tyr84fs)
|
rs1057516329
|
|
NM_005609.4(PYGM):c.2528G>T (p.Ter843Leu)
|
rs1057516529
|
|
NM_005609.4(PYGM):c.253del (p.Tyr85fs)
|
rs1057516629
|
|
NM_005609.4(PYGM):c.254_257del (p.Tyr85fs)
|
rs2135840945
|
|
NM_005609.4(PYGM):c.255C>A (p.Tyr85Ter)
|
rs527236146
|
|
NM_005609.4(PYGM):c.262_263del (p.Leu88fs)
|
rs1555136540
|
|
NM_005609.4(PYGM):c.2T>C (p.Met1Thr)
|
rs2058423391
|
|
NM_005609.4(PYGM):c.370G>T (p.Glu124Ter)
|
rs1555136459
|
|
NM_005609.4(PYGM):c.395_408del (p.Leu132fs)
|
rs1565538121
|
|
NM_005609.4(PYGM):c.403G>A (p.Gly135Arg)
|
rs780246932
|
|
NM_005609.4(PYGM):c.407del (p.Gly136fs)
|
rs786204723
|
|
NM_005609.4(PYGM):c.415C>G (p.Arg139Gly)
|
|
|
NM_005609.4(PYGM):c.415C>T (p.Arg139Trp)
|
rs367990192
|
|
NM_005609.4(PYGM):c.424+1G>A
|
|
|
NM_005609.4(PYGM):c.424+1G>T
|
|
|
NM_005609.4(PYGM):c.425-2A>G
|
rs752851284
|
|
NM_005609.4(PYGM):c.445_448del (p.Ala149fs)
|
rs1057517400
|
|
NM_005609.4(PYGM):c.470G>T (p.Gly157Val)
|
|
|
NM_005609.4(PYGM):c.472dup (p.Tyr158fs)
|
|
|
NM_005609.4(PYGM):c.501dup (p.Asn168Ter)
|
rs1555136390
|
|
NM_005609.4(PYGM):c.506AGA[1] (p.Lys170del)
|
rs764823441
|
|
NM_005609.4(PYGM):c.528+1G>A
|
rs1262967083
|
|
NM_005609.4(PYGM):c.528+1G>T
|
|
|
NM_005609.4(PYGM):c.528+2T>G
|
rs1057516468
|
|
NM_005609.4(PYGM):c.580del (p.Arg194fs)
|
|
|
NM_005609.4(PYGM):c.614G>A (p.Gly205Asp)
|
|
|
NM_005609.4(PYGM):c.658_659del (p.Gln220fs)
|
rs766199191
|
|
NM_005609.4(PYGM):c.660+1G>A
|
rs1555136208
|
|
NM_005609.4(PYGM):c.677_681dup (p.Asp228fs)
|
|
|
NM_005609.4(PYGM):c.682del (p.Asp228fs)
|
rs2058388882
|
|
NM_005609.4(PYGM):c.735G>A (p.Trp245Ter)
|
|
|
NM_005609.4(PYGM):c.772+2T>A
|
|
|
NM_005609.4(PYGM):c.773-1G>C
|
rs2135836264
|
|
NM_005609.4(PYGM):c.839_843del (p.Leu280fs)
|
|
|
NM_005609.4(PYGM):c.855+1G>A
|
rs2135836123
|
|
NM_005609.4(PYGM):c.856-2A>C
|
rs1565536363
|
|
NM_005609.4(PYGM):c.889G>T (p.Glu297Ter)
|
|
|
NM_005609.4(PYGM):c.999+1G>A
|
|
|
NM_005645.4(TAF13):c.204+1G>T
|
rs2102105455
|
|
NM_005670.4(EPM2A):c.163C>T (p.Gln55Ter)
|
rs187930476
|
|
NM_005670.4(EPM2A):c.179G>A (p.Trp60Ter)
|
|
|
NM_005670.4(EPM2A):c.745G>A (p.Val249Met)
|
rs1387516050
|
|
NM_005670.4(EPM2A):c.759delinsCATGCA (p.Ala254fs)
|
rs1131691331
|
|
NM_005908.4(MANBA):c.1112+1G>T
|
|
|
NM_005908.4(MANBA):c.1162C>T (p.Arg388Trp)
|
|
|
NM_005908.4(MANBA):c.1231-1G>A
|
|
|
NM_005908.4(MANBA):c.1236G>A (p.Trp412Ter)
|
rs1553945794
|
|
NM_005908.4(MANBA):c.1540_1541del (p.Val514fs)
|
rs775574131
|
|
NM_005908.4(MANBA):c.1704+1G>T
|
|
|
NM_005908.4(MANBA):c.1705-2A>G
|
|
|
NM_005908.4(MANBA):c.1753C>T (p.Arg585Ter)
|
|
|
NM_005908.4(MANBA):c.177+2T>C
|
rs779221957
|
|
NM_005908.4(MANBA):c.178-2A>G
|
|
|
NM_005908.4(MANBA):c.2015-1G>A
|
|
|
NM_005908.4(MANBA):c.272+2T>C
|
|
|
NM_005908.4(MANBA):c.273-1G>A
|
|
|
NM_005908.4(MANBA):c.378+2T>C
|
|
|
NM_005908.4(MANBA):c.549+1G>A
|
rs1334537145
|
|
NM_005908.4(MANBA):c.673+1G>A
|
|
|
NM_005908.4(MANBA):c.674-1G>C
|
|
|
NM_005908.4(MANBA):c.674-2A>G
|
|
|
NM_005908.4(MANBA):c.916del (p.Leu306fs)
|
|
|
NM_005908.4(MANBA):c.961-2A>C
|
rs1411236177
|
|
NM_006218.4(PIK3CA):c.2075del (p.Cys692fs)
|
rs1724954436
|
|
NM_006516.4(SLC2A1):c.100A>G (p.Asn34Asp)
|
rs587784390
|
|
NM_006516.4(SLC2A1):c.102T>G (p.Asn34Lys)
|
rs1570601007
|
|
NM_006516.4(SLC2A1):c.1136T>C (p.Phe379Ser)
|
rs2124446500
|
|
NM_006516.4(SLC2A1):c.1199G>A (p.Arg400His)
|
rs776095655
|
|
NM_006516.4(SLC2A1):c.1199_1200insGAG (p.Arg400_Pro401insSer)
|
rs1570590905
|
|
NM_006516.4(SLC2A1):c.1234T>G (p.Trp412Gly)
|
rs1570590859
|
|
NM_006516.4(SLC2A1):c.1264T>C (p.Phe422Leu)
|
rs1570590834
|
|
NM_006516.4(SLC2A1):c.1300T>G (p.Phe434Val)
|
rs1570590528
|
|
NM_006516.4(SLC2A1):c.1303ATC[1] (p.Ile436del)
|
rs864309522
|
|
NM_006516.4(SLC2A1):c.1372C>T (p.Arg458Trp)
|
rs13306758
|
|
NM_006516.4(SLC2A1):c.194G>A (p.Trp65Ter)
|
|
|
NM_006516.4(SLC2A1):c.209C>T (p.Ala70Val)
|
rs2124450819
|
|
NM_006516.4(SLC2A1):c.274C>T (p.Arg92Trp)
|
rs202060209
|
|
NM_006516.4(SLC2A1):c.287T>C (p.Met96Thr)
|
rs1643481875
|
|
NM_006516.4(SLC2A1):c.2T>C (p.Met1Thr)
|
rs1553157935
|
|
NM_006516.4(SLC2A1):c.339del (p.Lys114fs)
|
rs1643480923
|
|
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys)
|
rs80359818
|
|
NM_006516.4(SLC2A1):c.377G>A (p.Arg126His)
|
rs80359816
|
|
NM_006516.4(SLC2A1):c.400G>A (p.Gly134Ser)
|
rs1057518953
|
|
NM_006516.4(SLC2A1):c.424A>C (p.Met142Leu)
|
|
|
NM_006516.4(SLC2A1):c.458G>C (p.Arg153Pro)
|
rs794727642
|
|
NM_006516.4(SLC2A1):c.458G>T (p.Arg153Leu)
|
rs794727642
|
|
NM_006516.4(SLC2A1):c.46_47insCTCCTCA (p.Val16fs)
|
rs1570601060
|
|
NM_006516.4(SLC2A1):c.499G>C (p.Gly167Arg)
|
rs773339124
|
|
NM_006516.4(SLC2A1):c.49G>A (p.Gly17Arg)
|
rs1345986424
|
|
NM_006516.4(SLC2A1):c.505_507del (p.Leu169del)
|
rs80359832
|
|
NM_006516.4(SLC2A1):c.598C>T (p.Gln200Ter)
|
rs1057521967
|
|
NM_006516.4(SLC2A1):c.621_629del (p.Glu209_Pro211del)
|
rs1557646075
|
|
NM_006516.4(SLC2A1):c.635G>A (p.Arg212His)
|
rs886039517
|
|
NM_006516.4(SLC2A1):c.680-3C>G
|
rs112081052
|
|
NM_006516.4(SLC2A1):c.692T>C (p.Leu231Pro)
|
rs2124449089
|
|
NM_006516.4(SLC2A1):c.694C>T (p.Arg232Cys)
|
rs387907313
|
|
NM_006516.4(SLC2A1):c.728A>T (p.Glu243Val)
|
rs2124449030
|
|
NM_006516.4(SLC2A1):c.731T>C (p.Met244Thr)
|
rs1064795363
|
|
NM_006516.4(SLC2A1):c.737_740del (p.Glu246fs)
|
|
|
NM_006516.4(SLC2A1):c.843_854del (p.Gln282_Ser285del)
|
rs2124448824
|
|
NM_006516.4(SLC2A1):c.851T>C (p.Leu284Pro)
|
rs2124448826
|
|
NM_006516.4(SLC2A1):c.913C>T (p.Gln305Ter)
|
|
|
NM_006516.4(SLC2A1):c.929C>T (p.Thr310Ile)
|
rs80359824
|
|
NM_006516.4(SLC2A1):c.938C>T (p.Ser313Phe)
|
rs794727870
|
|
NM_006516.4(SLC2A1):c.964del (p.Val322fs)
|
|
|
NM_006516.4(SLC2A1):c.971C>T (p.Ser324Leu)
|
rs796053253
|
|
NM_006516.4(SLC2A1):c.972G>A (p.Ser324=)
|
rs796053254
|
|
NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp)
|
rs80359825
|
|
NM_006516.4(SLC2A1):c.998G>A (p.Arg333Gln)
|
rs1553155986
|
|
NM_006618.5(KDM5B):c.2265C>G (p.Tyr755Ter)
|
|
|
NM_006618.5(KDM5B):c.2945+1G>A
|
rs2102232815
|
|
NM_006618.5(KDM5B):c.3224del (p.Asn1075fs)
|
|
|
NM_006618.5(KDM5B):c.3309_3312del (p.Arg1103fs)
|
|
|
NM_006618.5(KDM5B):c.3635del (p.Gly1212fs)
|
|
|
NM_006618.5(KDM5B):c.3652dup (p.Cys1218fs)
|
rs1572705473
|
|
NM_006618.5(KDM5B):c.4109T>G (p.Leu1370Ter)
|
rs1558478047
|
|
NM_006618.5(KDM5B):c.418G>T (p.Glu140Ter)
|
|
|
NM_006618.5(KDM5B):c.998_1004del (p.Ser333fs)
|
|
|
NM_006721.4(ADK):c.1031C>T (p.Ala344Val)
|
rs1589387419
|
|
NM_006721.4(ADK):c.642_645del (p.Ser215fs)
|
|
|
NM_006721.4(ADK):c.813dup (p.Asn272fs)
|
rs1589286482
|
|
NM_006721.4(ADK):c.916C>T (p.Gln306Ter)
|
|
|
NM_006755.2(TALDO1):c.512C>T (p.Ser171Phe)
|
|
|
NM_006755.2(TALDO1):c.695_696del (p.Ile232fs)
|
|
|
NM_006765.4(TUSC3):c.119dup (p.Gly41fs)
|
|
|
NM_006765.4(TUSC3):c.55_69delinsGC (p.Tyr19fs)
|
|
|
NM_006765.4(TUSC3):c.568-2A>G
|
rs2129179995
|
|
NM_006772.3(SYNGAP1):c.403C>T (p.Arg135Ter)
|
rs1131692154
|
|
NM_006859.4(LIAS):c.1063G>C (p.Ala355Pro)
|
rs1745058899
|
|
NM_006859.4(LIAS):c.218+1G>A
|
|
|
NM_006859.4(LIAS):c.587C>A (p.Thr196Asn)
|
rs1744715983
|
|
NM_006859.4(LIAS):c.643del (p.Asp215fs)
|
rs1744806313
|
|
NM_006859.4(LIAS):c.884-1G>A
|
rs201155530
|
|
NM_006895.3(HNMT):c.475del (p.His159fs)
|
rs765863580
|
|
NM_006895.3(HNMT):c.623T>C (p.Leu208Pro)
|
rs745756308
|
|
NM_012203.2(GRHPR):c.-4_-3delinsAT
|
rs796052077
|
|
NM_012203.2(GRHPR):c.101G>A (p.Trp34Ter)
|
|
|
NM_012203.2(GRHPR):c.102_112del (p.Trp34_Glu38delinsTer)
|
|
|
NM_012203.2(GRHPR):c.136G>T (p.Glu46Ter)
|
rs202022170
|
|
NM_012203.2(GRHPR):c.154del (p.Ala52fs)
|
rs751101495
|
|
NM_012203.2(GRHPR):c.170G>A (p.Cys57Tyr)
|
|
|
NM_012203.2(GRHPR):c.175del (p.Leu59fs)
|
|
|
NM_012203.2(GRHPR):c.181G>A (p.Asp61Asn)
|
|
|
NM_012203.2(GRHPR):c.188_189del (p.Val63fs)
|
rs1554746565
|
|
NM_012203.2(GRHPR):c.1A>G (p.Met1Val)
|
rs1554746094
|
|
NM_012203.2(GRHPR):c.1A>T (p.Met1Leu)
|
rs1554746094
|
|
NM_012203.2(GRHPR):c.206_214+11del
|
|
|
NM_012203.2(GRHPR):c.214+1G>C
|
rs1244822375
|
|
NM_012203.2(GRHPR):c.214+2T>G
|
rs1057517398
|
|
NM_012203.2(GRHPR):c.215-2_215-1del
|
rs1554746793
|
|
NM_012203.2(GRHPR):c.228dup (p.Val77fs)
|
rs1057517238
|
|
NM_012203.2(GRHPR):c.251del (p.Gly84fs)
|
|
|
NM_012203.2(GRHPR):c.258_272del (p.His87_Asp91del)
|
|
|
NM_012203.2(GRHPR):c.287+2T>C
|
rs1564297234
|
|
NM_012203.2(GRHPR):c.287G>A (p.Arg96His)
|
|
|
NM_012203.2(GRHPR):c.288-1G>C
|
|
|
NM_012203.2(GRHPR):c.2T>G (p.Met1Arg)
|
rs1554746097
|
|
NM_012203.2(GRHPR):c.306C>A (p.Tyr102Ter)
|
rs1823086297
|
|
NM_012203.2(GRHPR):c.319dup (p.Leu107fs)
|
|
|
NM_012203.2(GRHPR):c.337G>T (p.Glu113Ter)
|
rs180177307
|
|
NM_012203.2(GRHPR):c.338_351del (p.Glu113fs)
|
|
|
NM_012203.2(GRHPR):c.344C>A (p.Ala115Glu)
|
|
|
NM_012203.2(GRHPR):c.348del (p.Ser117fs)
|
|
|
NM_012203.2(GRHPR):c.351_373del (p.Leu118fs)
|
|
|
NM_012203.2(GRHPR):c.404+3_404+6del
|
rs180177309
|
|
NM_012203.2(GRHPR):c.404del (p.Asn135fs)
|
rs1057516299
|
|
NM_012203.2(GRHPR):c.405-1G>A
|
rs779208888
|
|
NM_012203.2(GRHPR):c.412T>C (p.Trp138Arg)
|
|
|
NM_012203.2(GRHPR):c.435_436del (p.Trp145fs)
|
rs1057517333
|
|
NM_012203.2(GRHPR):c.441_442del (p.Cys147fs)
|
rs1057517026
|
|
NM_012203.2(GRHPR):c.457C>T (p.Gln153Ter)
|
rs1341484544
|
|
NM_012203.2(GRHPR):c.493+2T>A
|
rs180177313
|
|
NM_012203.2(GRHPR):c.496C>T (p.Gln166Ter)
|
|
|
NM_012203.2(GRHPR):c.496del (p.Gln166fs)
|
rs1554747871
|
|
NM_012203.2(GRHPR):c.499_500insAGAGT (p.Ala167fs)
|
|
|
NM_012203.2(GRHPR):c.515del (p.Leu172fs)
|
rs1057516990
|
|
NM_012203.2(GRHPR):c.532del (p.Gln178fs)
|
|
|
NM_012203.2(GRHPR):c.536_537del (p.Arg179fs)
|
|
|
NM_012203.2(GRHPR):c.540del (p.Leu181fs)
|
rs180177315
|
|
NM_012203.2(GRHPR):c.586del (p.Gln196fs)
|
|
|
NM_012203.2(GRHPR):c.589del (p.Ala197fs)
|
rs1564300408
|
|
NM_012203.2(GRHPR):c.597del (p.Phe199fs)
|
rs1057516292
|
|
NM_012203.2(GRHPR):c.598+1G>T
|
rs111256477
|
|
NM_012203.2(GRHPR):c.598+1del
|
rs1554747933
|
|
NM_012203.2(GRHPR):c.599-1G>A
|
|
|
NM_012203.2(GRHPR):c.599-1G>C
|
rs1422977131
|
|
NM_012203.2(GRHPR):c.603dup (p.Thr202fs)
|
|
|
NM_012203.2(GRHPR):c.617_671del (p.Ala206fs)
|
rs1564300888
|
|
NM_012203.2(GRHPR):c.675_676del (p.Cys226fs)
|
|
|
NM_012203.2(GRHPR):c.737dup
|
|
|
NM_012203.2(GRHPR):c.755dup (p.Asp252fs)
|
rs1057516823
|
|
NM_012203.2(GRHPR):c.779dup (p.Ser260fs)
|
|
|
NM_012203.2(GRHPR):c.780dup (p.Gly261fs)
|
|
|
NM_012203.2(GRHPR):c.781_782delinsTAC (p.Gly261fs)
|
rs1554748528
|
|
NM_012203.2(GRHPR):c.783dup (p.Lys262Ter)
|
rs1554748534
|
|
NM_012203.2(GRHPR):c.806A>G (p.Asp269Gly)
|
|
|
NM_012203.2(GRHPR):c.83+1G>A
|
|
|
NM_012203.2(GRHPR):c.83+1G>C
|
rs1822898131
|
|
NM_012203.2(GRHPR):c.849dup (p.Thr284fs)
|
rs1554748574
|
|
NM_012203.2(GRHPR):c.863del (p.Cys288fs)
|
rs1554748598
|
|
NM_012203.2(GRHPR):c.865+1del
|
|
|
NM_012203.2(GRHPR):c.865+2T>C
|
|
|
NM_012203.2(GRHPR):c.866_867del (p.Val289fs)
|
rs180177321
|
|
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.905G>C (p.Arg302Pro)
|
|
|
NM_012203.2(GRHPR):c.932dup (p.Asn311fs)
|
|
|
NM_012203.2(GRHPR):c.934A>G (p.Asn312Asp)
|
rs180177324
|
|
NM_012203.2(GRHPR):c.94_97dup (p.Gln33fs)
|
|
|
NM_012203.2(GRHPR):c.954del (p.Glu320fs)
|
rs1057516831
|
|
NM_012434.5(SLC17A5):c.1001C>G (p.Pro334Arg)
|
rs119491110
|
|
NM_012434.5(SLC17A5):c.1035_1036insCTTATACACA (p.Gly346fs)
|
|
|
NM_012434.5(SLC17A5):c.1048del (p.Asp350fs)
|
|
|
NM_012434.5(SLC17A5):c.1096delinsTGTGTATAAGAGACAGT (p.Ile366delinsCysValTer)
|
|
|
NM_012434.5(SLC17A5):c.1111+1G>T
|
rs777862172
|
|
NM_012434.5(SLC17A5):c.1111G>A (p.Gly371Arg)
|
rs1277966688
|
|
NM_012434.5(SLC17A5):c.1121del (p.Gly374fs)
|
rs1057517119
|
|
NM_012434.5(SLC17A5):c.1127del (p.Ala376fs)
|
rs1057517111
|
|
NM_012434.5(SLC17A5):c.1208del (p.Gly403fs)
|
rs1554161865
|
|
NM_012434.5(SLC17A5):c.1226G>A (p.Gly409Glu)
|
rs386833989
|
|
NM_012434.5(SLC17A5):c.1259+1G>T
|
rs146095590
|
|
NM_012434.5(SLC17A5):c.1350+1G>A
|
rs1057516951
|
|
NM_012434.5(SLC17A5):c.169C>T (p.Arg57Cys)
|
rs754150739
|
|
NM_012434.5(SLC17A5):c.1A>G (p.Met1Val)
|
rs1304456183
|
|
NM_012434.5(SLC17A5):c.204del (p.Asp69fs)
|
rs1057516549
|
|
NM_012434.5(SLC17A5):c.215_216del (p.Thr72fs)
|
rs1057516505
|
|
NM_012434.5(SLC17A5):c.215del (p.Thr72fs)
|
rs1057517269
|
|
NM_012434.5(SLC17A5):c.221T>G (p.Leu74Ter)
|
|
|
NM_012434.5(SLC17A5):c.254del (p.Glu85fs)
|
|
|
NM_012434.5(SLC17A5):c.286C>T (p.Gln96Ter)
|
|
|
NM_012434.5(SLC17A5):c.289dup (p.Thr97fs)
|
|
|
NM_012434.5(SLC17A5):c.292-1G>C
|
rs1554164322
|
|
NM_012434.5(SLC17A5):c.292-2A>C
|
rs1057516528
|
|
NM_012434.5(SLC17A5):c.294_310del
|
|
|
NM_012434.5(SLC17A5):c.308G>A (p.Trp103Ter)
|
|
|
NM_012434.5(SLC17A5):c.309G>A (p.Trp103Ter)
|
rs386833991
|
|
NM_012434.5(SLC17A5):c.321_322insGTCTCTTATA (p.Gln108fs)
|
|
|
NM_012434.5(SLC17A5):c.349dup (p.Tyr117fs)
|
rs772039085
|
|
NM_012434.5(SLC17A5):c.384T>A (p.Tyr128Ter)
|
rs1057516257
|
|
NM_012434.5(SLC17A5):c.390del (p.Ser131fs)
|
|
|
NM_012434.5(SLC17A5):c.407A>G (p.Lys136Arg)
|
|
|
NM_012434.5(SLC17A5):c.409del (p.Met137fs)
|
rs794729653
|
|
NM_012434.5(SLC17A5):c.423del (p.Phe141fs)
|
rs1057516419
|
|
NM_012434.5(SLC17A5):c.436_437insACTCCTAAAT (p.Thr146delinsAsnSerTer)
|
|
|
NM_012434.5(SLC17A5):c.43G>T (p.Glu15Ter)
|
rs727504157
|
|
NM_012434.5(SLC17A5):c.458_460delinsATCTAAGTGT (p.Thr153fs)
|
|
|
NM_012434.5(SLC17A5):c.485_486insCAAGAGAGCAAAATAC (p.Pro163fs)
|
|
|
NM_012434.5(SLC17A5):c.527G>T (p.Gly176Val)
|
|
|
NM_012434.5(SLC17A5):c.609dup (p.Ala204fs)
|
|
|
NM_012434.5(SLC17A5):c.613+1G>A
|
rs1769124033
|
|
NM_012434.5(SLC17A5):c.613+2T>A
|
rs1554164078
|
|
NM_012434.5(SLC17A5):c.614-1G>A
|
rs1554163958
|
|
NM_012434.5(SLC17A5):c.619C>T (p.Gln207Ter)
|
rs1769021763
|
|
NM_012434.5(SLC17A5):c.693C>A (p.Tyr231Ter)
|
|
|
NM_012434.5(SLC17A5):c.693del (p.Phe233fs)
|
rs1057516862
|
|
NM_012434.5(SLC17A5):c.699del (p.Phe233fs)
|
rs779548058
|
|
NM_012434.5(SLC17A5):c.700+2T>C
|
rs1440688652
|
|
NM_012434.5(SLC17A5):c.701-1G>A
|
|
|
NM_012434.5(SLC17A5):c.718dup (p.Trp240fs)
|
rs1554163878
|
|
NM_012434.5(SLC17A5):c.735dup (p.Trp246fs)
|
|
|
NM_012434.5(SLC17A5):c.738G>A (p.Trp246Ter)
|
rs755923873
|
|
NM_012434.5(SLC17A5):c.786A>C (p.Glu262Asp)
|
rs1768948534
|
|
NM_012434.5(SLC17A5):c.790G>T (p.Glu264Ter)
|
|
|
NM_012434.5(SLC17A5):c.802_816del (p.Ser268_Asn272del)
|
rs386833994
|
|
NM_012434.5(SLC17A5):c.819+1G>A
|
rs1057517028
|
|
NM_012434.5(SLC17A5):c.820-2A>C
|
rs1554162842
|
|
NM_012434.5(SLC17A5):c.846_849del (p.Trp282fs)
|
|
|
NM_012434.5(SLC17A5):c.857T>A (p.Leu286Ter)
|
|
|
NM_012434.5(SLC17A5):c.903C>G (p.Tyr301Ter)
|
|
|
NM_012434.5(SLC17A5):c.905del (p.Asn302fs)
|
rs771156053
|
|
NM_012434.5(SLC17A5):c.909G>A (p.Trp303Ter)
|
rs1057516601
|
|
NM_012434.5(SLC17A5):c.915_916del (p.Phe305fs)
|
|
|
NM_012434.5(SLC17A5):c.94+1G>A
|
|
|
NM_012434.5(SLC17A5):c.94+2T>A
|
rs1769984400
|
|
NM_012434.5(SLC17A5):c.95-1G>A
|
|
|
NM_012434.5(SLC17A5):c.978+1G>A
|
rs2150099218
|
|
NM_012434.5(SLC17A5):c.979-2A>G
|
rs1554162230
|
|
NM_012434.5(SLC17A5):c.983G>A (p.Gly328Glu)
|
rs386833996
|
|
NM_012434.5(SLC17A5):c.992_995delinsAT (p.Ser331fs)
|
|
|
NM_012434.5(SLC17A5):c.998del (p.Leu333fs)
|
rs779494716
|
|
NM_014026.6(DCPS):c.856G>T (p.Glu286Ter)
|
|
|
NM_014168.4(METTL5):c.406+1_406+2insATACAAATTC
|
|
|
NM_014168.4(METTL5):c.541+1G>C
|
rs1467526653
|
|
NM_014806.5(RUSC2):c.2773C>T (p.Arg925Ter)
|
rs765514069
|
|
NM_015275.3(WASHC4):c.1038+1G>T
|
rs1881282106
|
|
NM_015275.3(WASHC4):c.1374del (p.Met458fs)
|
|
|
NM_015275.3(WASHC4):c.2133dup (p.Ser712fs)
|
|
|
NM_015981.4(CAMK2A):c.220C>T (p.Arg74Ter)
|
|
|
NM_016042.4(EXOSC3):c.2T>G (p.Met1Arg)
|
|
|
NM_016042.4(EXOSC3):c.325-1G>T
|
|
|
NM_016042.4(EXOSC3):c.428_431del (p.Tyr143fs)
|
rs1296865764
|
|
NM_016042.4(EXOSC3):c.482A>G (p.Asp161Gly)
|
rs2118977758
|
|
NM_016042.4(EXOSC3):c.619_622dup (p.Arg208delinsAsnTer)
|
rs1160669103
|
|
NM_016042.4(EXOSC3):c.703G>A (p.Gly235Arg)
|
|
|
NM_016042.4(EXOSC3):c.712T>C (p.Trp238Arg)
|
rs672601332
|
|
NM_016203.4(PRKAG2):c.1004T>C (p.Met335Thr)
|
rs730880978
|
|
NM_016203.4(PRKAG2):c.1201C>G (p.His401Asp)
|
rs878855017
|
|
NM_016203.4(PRKAG2):c.1459T>C (p.Tyr487His)
|
rs267606976
|
|
NM_016203.4(PRKAG2):c.1591C>T (p.Arg531Trp)
|
rs121908990
|
|
NM_016203.4(PRKAG2):c.1642T>G (p.Ser548Ala)
|
|
|
NM_016203.4(PRKAG2):c.1643C>T (p.Ser548Leu)
|
rs1563131309
|
|
NM_016203.4(PRKAG2):c.879C>A (p.Phe293Leu)
|
rs193922697
|
|
NM_016219.5(MAN1B1):c.1972del (p.Ser658fs)
|
|
|
NM_016219.5(MAN1B1):c.219+1G>A
|
rs2130983856
|
|
NM_016219.5(MAN1B1):c.219G>T (p.Arg73Ser)
|
|
|
NM_016219.5(MAN1B1):c.530_542del (p.Leu177fs)
|
rs797045688
|
|
NM_016219.5(MAN1B1):c.917-2_921del
|
|
|
NM_016302.4(CRBN):c.1171T>C (p.Cys391Arg)
|
rs797045036
|
|
NM_016302.4(CRBN):c.641C>G (p.Ser214Ter)
|
rs1575094649
|
|
NM_017721.5(CC2D1A):c.1620_1623dup (p.Pro542fs)
|
rs1971392241
|
|
NM_017721.5(CC2D1A):c.61-2A>G
|
|
|
NM_017755.6(NSUN2):c.1165C>T (p.Arg389Ter)
|
rs1377452635
|
|
NM_017755.6(NSUN2):c.1198_1201dup (p.Leu401fs)
|
|
|
NM_017755.6(NSUN2):c.1566del (p.Phe522fs)
|
|
|
NM_017755.6(NSUN2):c.1725_1728del (p.Ser575fs)
|
rs762288077
|
|
NM_017755.6(NSUN2):c.1903A>G (p.Asn635Asp)
|
rs1403893283
|
|
NM_017755.6(NSUN2):c.430_431del (p.Lys144fs)
|
rs1579377990
|
|
NM_017755.6(NSUN2):c.790C>T (p.Arg264Ter)
|
rs868442196
|
|
NM_017755.6(NSUN2):c.839dup (p.Asn280fs)
|
rs1579370234
|
|
NM_017755.6(NSUN2):c.962_964delinsTTA (p.Cys321_Ser322delinsPheThr)
|
|
|
NM_018255.4(ELP2):c.2084_2087del (p.Val695fs)
|
|
|
NM_018255.4(ELP2):c.2237del (p.Cys746fs)
|
|
|
NM_018255.4(ELP2):c.293dup (p.Leu98fs)
|
rs529659464
|
|
NM_018297.4(NGLY1):c.1124_1125del (p.Tyr375fs)
|
|
|
NM_018297.4(NGLY1):c.1764_1785del (p.Asp588fs)
|
rs2125442722
|
|
NM_018297.4(NGLY1):c.490dup (p.Thr164fs)
|
|
|
NM_018297.4(NGLY1):c.982C>T (p.Arg328Cys)
|
rs762276611
|
|
NM_020066.5(FMN2):c.1861C>T (p.Arg621Ter)
|
rs1426355851
|
|
NM_020066.5(FMN2):c.547A>T (p.Ile183Phe)
|
rs757511770
|
|
NM_020066.5(FMN2):c.874C>T (p.Gln292Ter)
|
|
|
NM_020374.4(C12orf4):c.1168_1169delinsC (p.Gly390fs)
|
|
|
NM_020374.4(C12orf4):c.1200_1201insGT (p.Lys401fs)
|
rs1943353362
|
|
NM_020374.4(C12orf4):c.799_1034-429delinsTTATGA
|
|
|
NM_021957.4(GYS2):c.1062+1G>T
|
rs781511110
|
|
NM_021957.4(GYS2):c.1472T>G (p.Met491Arg)
|
rs121918422
|
|
NM_021957.4(GYS2):c.1753C>T (p.Gln585Ter)
|
|
|
NM_021957.4(GYS2):c.574C>T (p.Arg192Ter)
|
rs150382575
|
|
NM_021957.4(GYS2):c.942-2A>G
|
|
|
NM_022172.2(PC):c.[2095G>A];[2095G>T]
|
|
|
NM_024298.5(MBOAT7):c.1062C>A (p.Tyr354Ter)
|
rs2076017638
|
|
NM_024298.5(MBOAT7):c.1135del (p.Leu379fs)
|
rs2076013475
|
|
NM_024298.5(MBOAT7):c.126_145del (p.Leu43fs)
|
rs886041058
|
|
NM_024298.5(MBOAT7):c.1290C>A (p.Tyr430Ter)
|
|
|
NM_024298.5(MBOAT7):c.199C>T (p.Gln67Ter)
|
rs2076508722
|
|
NM_024298.5(MBOAT7):c.259C>T (p.Arg87Ter)
|
rs2076453599
|
|
NM_024298.5(MBOAT7):c.680_690dup (p.Leu231fs)
|
rs1264222654
|
|
NM_024298.5(MBOAT7):c.757G>A (p.Glu253Lys)
|
rs868498080
|
|
NM_024298.5(MBOAT7):c.811dup (p.Arg271fs)
|
rs2146989146
|
|
NM_024989.4(PGAP1):c.1066A>T (p.Lys356Ter)
|
rs1576164991
|
|
NM_024989.4(PGAP1):c.1272G>A (p.Lys424=)
|
|
|
NM_024989.4(PGAP1):c.1351-2A>G
|
|
|
NM_024989.4(PGAP1):c.2274C>G (p.Tyr758Ter)
|
rs1576086299
|
|
NM_024989.4(PGAP1):c.2287-1G>A
|
|
|
NM_024989.4(PGAP1):c.2338-2A>C
|
rs1559328283
|
|
NM_024989.4(PGAP1):c.2393C>G (p.Ser798Ter)
|
|
|
NM_024989.4(PGAP1):c.289del (p.Ser97fs)
|
|
|
NM_024989.4(PGAP1):c.586CTT[1] (p.Leu197del)
|
rs587777378
|
|
NM_030805.4(LMAN2L):c.740G>A (p.Arg247His)
|
rs773649192
|
|
NM_031229.4(RBCK1):c.1108_1109insT (p.His370fs)
|
|
|
NM_031229.4(RBCK1):c.1522_1526del (p.Asn508fs)
|
rs2122349615
|
|
NM_031229.4(RBCK1):c.461-2A>G
|
rs2016220601
|
|
NM_031229.4(RBCK1):c.582+1G>A
|
rs1017046170
|
|
NM_031229.4(RBCK1):c.799C>T (p.Gln267Ter)
|
rs2122268166
|
|
NM_031466.7(TRAPPC9):c.[2415_2416insC];[3349+1G>A]
|
|
|
NM_033159.4(HYAL1):c.586_598del (p.Arg196fs)
|
rs1702201097
|
|
NM_033159.4(HYAL1):c.900+1G>A
|
|
|
NM_033507.2(GCK):c.488del
|
rs1246464603
|
|
NM_138413.4(HOGA1):c.10_11insTGGTC (p.Pro4fs)
|
rs924232072
|
|
NM_138413.4(HOGA1):c.110G>T (p.Gly37Val)
|
rs772722925
|
|
NM_138413.4(HOGA1):c.122_123del (p.Pro41fs)
|
rs1564753668
|
|
NM_138413.4(HOGA1):c.122del (p.Pro41fs)
|
|
|
NM_138413.4(HOGA1):c.122dup (p.Val42fs)
|
rs1425736036
|
|
NM_138413.4(HOGA1):c.134C>G (p.Pro45Arg)
|
rs764396564
|
|
NM_138413.4(HOGA1):c.189del (p.Lys63fs)
|
rs1247079002
|
|
NM_138413.4(HOGA1):c.206T>G (p.Phe69Cys)
|
|
|
NM_138413.4(HOGA1):c.212-1G>A
|
|
|
NM_138413.4(HOGA1):c.212G>T (p.Gly71Val)
|
|
|
NM_138413.4(HOGA1):c.234T>A (p.Asn78Lys)
|
|
|
NM_138413.4(HOGA1):c.250del (p.Phe83_Leu84insTer)
|
|
|
NM_138413.4(HOGA1):c.251T>C (p.Leu84Pro)
|
|
|
NM_138413.4(HOGA1):c.266G>A (p.Arg89His)
|
|
|
NM_138413.4(HOGA1):c.340+1G>A
|
|
|
NM_138413.4(HOGA1):c.356T>A (p.Val119Glu)
|
|
|
NM_138413.4(HOGA1):c.356T>G (p.Val119Gly)
|
|
|
NM_138413.4(HOGA1):c.376G>A (p.Ala126Thr)
|
|
|
NM_138413.4(HOGA1):c.404del (p.Val135fs)
|
rs1554874148
|
|
NM_138413.4(HOGA1):c.413del (p.Pro138fs)
|
rs777683624
|
|
NM_138413.4(HOGA1):c.425G>A (p.Arg142His)
|
|
|
NM_138413.4(HOGA1):c.448del (p.Leu150fs)
|
rs746776892
|
|
NM_138413.4(HOGA1):c.469-1G>C
|
|
|
NM_138413.4(HOGA1):c.533T>C (p.Leu178Pro)
|
rs796052090
|
|
NM_138413.4(HOGA1):c.533_535delinsCGA (p.Leu178_Pro179delinsProThr)
|
|
|
NM_138413.4(HOGA1):c.580G>A (p.Gly194Ser)
|
|
|
NM_138413.4(HOGA1):c.603+1G>A
|
rs2135722313
|
|
NM_138413.4(HOGA1):c.634A>C (p.Thr212Pro)
|
|
|
NM_138413.4(HOGA1):c.651dup (p.Gln218fs)
|
|
|
NM_138413.4(HOGA1):c.700+2T>A
|
|
|
NM_138413.4(HOGA1):c.701-2A>G
|
rs776817346
|
|
NM_138413.4(HOGA1):c.720C>A (p.Cys240Ter)
|
|
|
NM_138413.4(HOGA1):c.733G>T (p.Val245Phe)
|
rs755562733
|
|
NM_138413.4(HOGA1):c.743del (p.Ala248fs)
|
|
|
NM_138413.4(HOGA1):c.785G>A (p.Trp262Ter)
|
|
|
NM_138413.4(HOGA1):c.787G>T (p.Glu263Ter)
|
|
|
NM_138413.4(HOGA1):c.796C>T (p.Gln266Ter)
|
rs752277936
|
|
NM_138413.4(HOGA1):c.814C>G (p.Leu272Val)
|
|
|
NM_138413.4(HOGA1):c.833C>A (p.Ala278Glu)
|
|
|
NM_138413.4(HOGA1):c.834+1G>A
|
rs749315029
|
|
NM_138413.4(HOGA1):c.834+2T>C
|
rs947352856
|
|
NM_138413.4(HOGA1):c.844C>T (p.Arg282Cys)
|
|
|
NM_138413.4(HOGA1):c.845G>A (p.Arg282His)
|
|
|
NM_138413.4(HOGA1):c.895G>C (p.Gly299Arg)
|
|
|
NM_138413.4(HOGA1):c.908G>A (p.Arg303His)
|
|
|
NM_138413.4(HOGA1):c.926T>C (p.Leu309Pro)
|
|
|
NM_138775.3(ALKBH8):c.982C>T (p.Arg328Ter)
|
|
|
NM_144563.3(RPIA):c.253G>A (p.Ala85Thr)
|
rs1399404493
|
|
NM_144563.3(RPIA):c.451C>T (p.Arg151Ter)
|
rs760452079
|
|
NM_144563.3(RPIA):c.770T>C (p.Ile257Thr)
|
rs2104137690
|
|
NM_145262.4(GLYCTK):c.1057del (p.His353fs)
|
rs1700517033
|
|
NM_145262.4(GLYCTK):c.37C>T (p.Arg13Ter)
|
|
|
NM_152419.3(HGSNAT):c.1013-1G>C
|
rs1804147747
|
|
NM_152419.3(HGSNAT):c.1058_1059insT (p.Val354fs)
|
|
|
NM_152419.3(HGSNAT):c.1170G>A (p.Trp390Ter)
|
rs1804526900
|
|
NM_152419.3(HGSNAT):c.118+2T>C
|
rs2130648749
|
|
NM_152419.3(HGSNAT):c.118+5G>A
|
rs1174944521
|
|
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.1323C>A (p.Tyr441Ter)
|
rs1804568176
|
|
NM_152419.3(HGSNAT):c.1358_1361del (p.Tyr453fs)
|
|
|
NM_152419.3(HGSNAT):c.1360C>T (p.Gln454Ter)
|
rs1057518644
|
|
NM_152419.3(HGSNAT):c.1378-2A>G
|
rs2130810560
|
|
NM_152419.3(HGSNAT):c.1411G>C (p.Glu471Gln)
|
rs753355844
|
|
NM_152419.3(HGSNAT):c.1411G>T (p.Glu471Ter)
|
rs753355844
|
|
NM_152419.3(HGSNAT):c.1517_1523del (p.Arg506fs)
|
|
|
NM_152419.3(HGSNAT):c.1542+1G>A
|
rs1554537612
|
|
NM_152419.3(HGSNAT):c.1542+1G>C
|
rs1554537612
|
|
NM_152419.3(HGSNAT):c.1542+2T>G
|
rs1554537613
|
|
NM_152419.3(HGSNAT):c.1543-2A>G
|
rs1804769861
|
|
NM_152419.3(HGSNAT):c.1567A>T (p.Lys523Ter)
|
rs73569592
|
|
NM_152419.3(HGSNAT):c.1575_1576del (p.Glu526fs)
|
|
|
NM_152419.3(HGSNAT):c.157C>T (p.Gln53Ter)
|
rs1802738210
|
|
NM_152419.3(HGSNAT):c.1614-1G>C
|
|
|
NM_152419.3(HGSNAT):c.1614-2A>T
|
rs1554537807
|
|
NM_152419.3(HGSNAT):c.1621T>A (p.Ser541Thr)
|
rs2130821593
|
|
NM_152419.3(HGSNAT):c.1674C>G (p.Tyr558Ter)
|
rs1554537841
|
|
NM_152419.3(HGSNAT):c.1726+1G>A
|
|
|
NM_152419.3(HGSNAT):c.220G>T (p.Glu74Ter)
|
rs1802741140
|
|
NM_152419.3(HGSNAT):c.265C>T (p.Gln89Ter)
|
rs1803166332
|
|
NM_152419.3(HGSNAT):c.283A>T (p.Lys95Ter)
|
rs1803167331
|
|
NM_152419.3(HGSNAT):c.391G>T (p.Glu131Ter)
|
rs1803181154
|
|
NM_152419.3(HGSNAT):c.433G>T (p.Gly145Ter)
|
rs1803182974
|
|
NM_152419.3(HGSNAT):c.469G>T (p.Glu157Ter)
|
rs553837106
|
|
NM_152419.3(HGSNAT):c.563+1G>C
|
|
|
NM_152419.3(HGSNAT):c.563+2T>A
|
rs2130722124
|
|
NM_152419.3(HGSNAT):c.564-1G>A
|
|
|
NM_152419.3(HGSNAT):c.567_568delinsT (p.Leu189fs)
|
|
|
NM_152419.3(HGSNAT):c.634-2A>G
|
|
|
NM_152419.3(HGSNAT):c.716_720del (p.Arg239fs)
|
|
|
NM_152419.3(HGSNAT):c.728dup (p.Asp244fs)
|
|
|
NM_152419.3(HGSNAT):c.742G>A (p.Gly248Arg)
|
|
|
NM_152419.3(HGSNAT):c.743+1del
|
rs1554531744
|
|
NM_152419.3(HGSNAT):c.744-2A>C
|
|
|
NM_152419.3(HGSNAT):c.744-2A>G
|
rs762402992
|
|
NM_152419.3(HGSNAT):c.773A>G (p.Asn258Ser)
|
rs767574122
|
|
NM_152419.3(HGSNAT):c.784G>T (p.Gly262Ter)
|
rs1803654249
|
|
NM_152419.3(HGSNAT):c.818A>T (p.Asn273Ile)
|
|
|
NM_152419.3(HGSNAT):c.820+1G>A
|
|
|
NM_152419.3(HGSNAT):c.836A>C (p.Asp279Ala)
|
rs1085307112
|
|
NM_152419.3(HGSNAT):c.847C>T (p.Pro283Ser)
|
rs2130754863
|
|
NM_152419.3(HGSNAT):c.851+1G>A
|
rs1554532283
|
|
NM_152419.3(HGSNAT):c.851+1G>T
|
rs1554532283
|
|
NM_152419.3(HGSNAT):c.925A>T (p.Arg309Ter)
|
rs1803878901
|
|
NM_152419.3(HGSNAT):c.947G>A (p.Trp316Ter)
|
rs1554533211
|
|
NM_152419.3(HGSNAT):c.9_10insCG (p.Ala4fs)
|
rs1554526454
|
|
NM_153747.2(PIGC):c.12_13insTTGTGACTAACA (p.Pro5delinsLeuTer)
|
|
|
NM_153747.2(PIGC):c.566T>G (p.Leu189Trp)
|
rs1553259614
|
|
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>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.281_282delinsC (p.Arg94fs)
|
rs193922471
|
|
NM_175914.5(HNF4A):c.319+2T>C
|
rs1600710669
|
|
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.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.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
|
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NM_181503.3(EXOSC8):c.734dup (p.Ala246fs)
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rs773616244
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NM_181503.3(EXOSC8):c.89_91del (p.Gly30del)
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rs764339075
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NM_194436.3(LDHD):c.1053G>T (p.Trp351Cys)
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rs1567502487
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NM_198586.3(NHLRC1):c.1163_1164del (p.Lys388fs)
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rs1783731105
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NM_198586.3(NHLRC1):c.137G>A (p.Cys46Tyr)
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NM_198586.3(NHLRC1):c.377T>C (p.Leu126Pro)
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NM_198586.3(NHLRC1):c.391G>A (p.Gly131Arg)
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rs967125703
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NM_198586.3(NHLRC1):c.438C>A (p.Asp146Glu)
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rs200559475
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NM_198586.3(NHLRC1):c.528C>G (p.Tyr176Ter)
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rs1403101337
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NM_198586.3(NHLRC1):c.575A>T (p.Asp192Val)
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rs1194084403
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Single allele
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p.X466Trp
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t(1;11)(p36.32;q13.2)
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