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_000152.5(GAA):c.-32-13T>G
|
rs386834236
|
0.00384
|
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro)
|
rs1800546
|
0.00319
|
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys)
|
rs121434529
|
0.00225
|
NM_000155.4(GALT):c.563A>G (p.Gln188Arg)
|
rs75391579
|
0.00192
|
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter)
|
rs116987552
|
0.00181
|
NM_000290.4(PGAM2):c.233G>A (p.Trp78Ter)
|
rs10250779
|
0.00166
|
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_000203.5(IDUA):c.1205G>A (p.Trp402Ter)
|
rs121965019
|
0.00086
|
NM_000158.4(GBE1):c.691+2T>C
|
rs192044702
|
0.00078
|
NM_000402.4(G6PD):c.934G>C (p.Asp312His)
|
rs137852318
|
0.00072
|
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter)
|
rs121907943
|
0.00063
|
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter)
|
rs121965020
|
0.00063
|
NM_000027.4(AGA):c.488G>C (p.Cys163Ser)
|
rs121964904
|
0.00055
|
NM_012434.5(SLC17A5):c.115C>T (p.Arg39Cys)
|
rs80338794
|
0.00049
|
NM_000402.4(G6PD):c.632A>T (p.Asp211Val)
|
rs5030872
|
0.00048
|
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)
|
rs141138948
|
0.00048
|
NM_000402.4(G6PD):c.1466G>T (p.Arg489Leu)
|
rs72554665
|
0.00046
|
NM_001370658.1(BTD):c.1308A>C (p.Gln436His)
|
rs80338685
|
0.00046
|
NM_000199.5(SGSH):c.734G>A (p.Arg245His)
|
rs104894635
|
0.00039
|
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_000152.5(GAA):c.841C>T (p.Arg281Trp)
|
rs142967546
|
0.00033
|
NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp)
|
rs76917243
|
0.00030
|
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)
|
rs5030868
|
0.00028
|
NM_005609.4(PYGM):c.613G>A (p.Gly205Ser)
|
rs119103251
|
0.00027
|
NM_000151.4(G6PC1):c.1039C>T (p.Gln347Ter)
|
rs80356487
|
0.00026
|
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs)
|
rs80356491
|
0.00026
|
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_000404.4(GLB1):c.75+2dup
|
rs587776525
|
0.00021
|
NM_003384.3(VRK1):c.1160G>A (p.Arg387His)
|
rs1420939606
|
0.00021
|
NM_003384.3(VRK1):c.961C>T (p.Arg321Cys)
|
rs772731615
|
0.00020
|
NM_000152.5(GAA):c.525del (p.Glu176fs)
|
rs386834235
|
0.00019
|
NM_000046.5(ARSB):c.629A>G (p.Tyr210Cys)
|
rs118203943
|
0.00017
|
NM_000155.4(GALT):c.855G>T (p.Lys285Asn)
|
rs111033773
|
0.00017
|
NM_000512.5(GALNS):c.850T>G (p.Phe284Val)
|
rs144067930
|
0.00017
|
NM_000108.5(DLD):c.685G>T (p.Gly229Cys)
|
rs121964990
|
0.00016
|
NM_001370658.1(BTD):c.410G>A (p.Arg137His)
|
rs146015592
|
0.00016
|
NM_004130.4(GYG1):c.143+3G>C
|
rs370652040
|
0.00016
|
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro)
|
rs138504221
|
0.00015
|
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_001360016.2(G6PD):c.1360C>T (p.Arg454Cys)
|
rs398123546
|
0.00014
|
NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr)
|
rs181396238
|
0.00014
|
NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly)
|
rs148881970
|
0.00013
|
NM_000263.4(NAGLU):c.1876C>T (p.Arg626Ter)
|
rs104894591
|
0.00013
|
NM_012434.5(SLC17A5):c.918T>G (p.Tyr306Ter)
|
rs201284672
|
0.00013
|
NM_152419.3(HGSNAT):c.493+1G>A
|
rs193066451
|
0.00013
|
NM_000402.4(G6PD):c.1478G>A (p.Arg493His)
|
rs72554664
|
0.00012
|
NM_000404.4(GLB1):c.622C>T (p.Arg208Cys)
|
rs72555366
|
0.00012
|
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp)
|
rs104894637
|
0.00011
|
NM_000293.3(PHKB):c.1285C>T (p.Arg429Ter)
|
rs563345848
|
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_001370658.1(BTD):c.1552C>T (p.Arg518Cys)
|
rs80338686
|
0.00011
|
NM_152419.3(HGSNAT):c.715C>T (p.Arg239Cys)
|
rs369292480
|
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_000263.4(NAGLU):c.1693C>T (p.Arg565Trp)
|
rs104894597
|
0.00010
|
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter)
|
rs104894592
|
0.00010
|
NM_000402.4(G6PD):c.961G>A (p.Val321Met)
|
rs137852327
|
0.00010
|
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met)
|
rs104893688
|
0.00010
|
NM_002863.5(PYGL):c.1729C>T (p.Gln577Ter)
|
rs149096315
|
0.00010
|
NM_021957.4(GYS2):c.1156C>T (p.Arg386Ter)
|
rs146195866
|
0.00010
|
NM_000152.5(GAA):c.1979G>A (p.Arg660His)
|
rs374143224
|
0.00009
|
NM_000154.2(GALK1):c.1144C>T (p.Gln382Ter)
|
rs111033608
|
0.00009
|
NM_000512.5(GALNS):c.901G>T (p.Gly301Cys)
|
rs118204443
|
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_005609.4(PYGM):c.1805G>A (p.Arg602Gln)
|
rs373190458
|
0.00009
|
NM_005609.4(PYGM):c.425-26A>G
|
rs764313717
|
0.00009
|
NM_021957.4(GYS2):c.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_198586.3(NHLRC1):c.205C>G (p.Pro69Ala)
|
rs28940576
|
0.00009
|
NM_000046.5(ARSB):c.454C>T (p.Arg152Trp)
|
rs991104525
|
0.00008
|
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.533G>A (p.Arg178His)
|
rs762267535
|
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_000293.3(PHKB):c.2326C>T (p.Gln776Ter)
|
rs149244943
|
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_000528.4(MAN2B1):c.1830+1G>C
|
rs80338677
|
0.00008
|
NM_001164277.2(SLC37A4):c.1015G>T (p.Gly339Cys)
|
rs80356490
|
0.00008
|
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_000181.4(GUSB):c.526C>T (p.Leu176Phe)
|
rs121918181
|
0.00007
|
NM_000293.3(PHKB):c.1090G>T (p.Glu364Ter)
|
rs371296953
|
0.00007
|
NM_000642.3(AGL):c.4525C>T (p.Gln1509Ter)
|
rs1480850606
|
0.00007
|
NM_001370658.1(BTD):c.566G>A (p.Arg189His)
|
rs398123139
|
0.00007
|
NM_005609.4(PYGM):c.1768+1G>A
|
rs771427957
|
0.00007
|
NM_006765.4(TUSC3):c.992C>A (p.Ser331Ter)
|
rs200667343
|
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_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.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_000155.4(GALT):c.584T>C (p.Leu195Pro)
|
rs111033728
|
0.00006
|
NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter)
|
rs137852888
|
0.00006
|
NM_000203.5(IDUA):c.923T>C (p.Leu308Pro)
|
rs752337969
|
0.00006
|
NM_000289.6(PFKM):c.237+1G>A
|
rs202143236
|
0.00006
|
NM_000293.3(PHKB):c.1257T>A (p.Tyr419Ter)
|
rs121918021
|
0.00006
|
NM_000294.3(PHKG2):c.96-11G>A
|
rs751600886
|
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_000404.4(GLB1):c.601C>T (p.Arg201Cys)
|
rs72555360
|
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_000642.3(AGL):c.2590C>T (p.Arg864Ter)
|
rs113994130
|
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_001370658.1(BTD):c.695A>G (p.Asp232Gly)
|
rs28934601
|
0.00006
|
NM_002103.5(GYS1):c.162_163del (p.Asp56fs)
|
rs587777375
|
0.00006
|
NM_002863.5(PYGL):c.2467C>T (p.Gln823Ter)
|
rs756205397
|
0.00006
|
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter)
|
rs137853063
|
0.00006
|
NM_005609.4(PYGM):c.2056G>A (p.Gly686Arg)
|
rs144081869
|
0.00006
|
NM_012434.5(SLC17A5):c.533del (p.Thr178fs)
|
rs727504156
|
0.00006
|
NM_198586.3(NHLRC1):c.468del (p.Gly158fs)
|
rs757954108
|
0.00006
|
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_000155.4(GALT):c.253-2A>G
|
rs111033661
|
0.00005
|
NM_000155.4(GALT):c.667C>T (p.Arg223Cys)
|
rs111033750
|
0.00005
|
NM_000158.4(GBE1):c.1544G>A (p.Arg515His)
|
rs201958741
|
0.00005
|
NM_000199.5(SGSH):c.703G>A (p.Asp235Asn)
|
rs753472891
|
0.00005
|
NM_000290.4(PGAM2):c.20del (p.Val7fs)
|
rs764567774
|
0.00005
|
NM_000292.3(PHKA2):c.4C>G (p.Arg2Gly)
|
rs140014925
|
0.00005
|
NM_000308.4(CTSA):c.745T>A (p.Tyr249Asn)
|
rs137854544
|
0.00005
|
NM_000404.4(GLB1):c.107A>G (p.Tyr36Cys)
|
rs748345527
|
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_001370658.1(BTD):c.565C>T (p.Arg189Cys)
|
rs369102875
|
0.00005
|
NM_002863.5(PYGL):c.1947C>A (p.Tyr649Ter)
|
rs150547274
|
0.00005
|
NM_002863.5(PYGL):c.280C>T (p.Arg94Ter)
|
rs113993973
|
0.00005
|
NM_012434.5(SLC17A5):c.719G>A (p.Trp240Ter)
|
rs386833993
|
0.00005
|
NM_021957.4(GYS2):c.547C>T (p.Gln183Ter)
|
rs201157731
|
0.00005
|
NM_000046.5(ARSB):c.1178A>C (p.His393Pro)
|
rs118203944
|
0.00004
|
NM_000046.5(ARSB):c.971G>T (p.Gly324Val)
|
rs398123125
|
0.00004
|
NM_000151.4(G6PC1):c.328G>A (p.Glu110Lys)
|
rs104894567
|
0.00004
|
NM_000152.5(GAA):c.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.1655T>C (p.Leu552Pro)
|
rs779556619
|
0.00004
|
NM_000152.5(GAA):c.1827del (p.Arg608_Tyr609insTer)
|
rs781088002
|
0.00004
|
NM_000152.5(GAA):c.1935C>A (p.Asp645Glu)
|
rs28940868
|
0.00004
|
NM_000152.5(GAA):c.784G>A (p.Glu262Lys)
|
rs201896815
|
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_000181.4(GUSB):c.1617C>T (p.Ser539=)
|
rs377519272
|
0.00004
|
NM_000181.4(GUSB):c.1856C>T (p.Ala619Val)
|
rs121918172
|
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.1403-1G>T
|
rs4690223
|
0.00004
|
NM_000203.5(IDUA):c.1855C>T (p.Arg619Ter)
|
rs121965031
|
0.00004
|
NM_000203.5(IDUA):c.536C>T (p.Thr179Met)
|
rs776098539
|
0.00004
|
NM_000203.5(IDUA):c.793-1G>A
|
rs762779421
|
0.00004
|
NM_000263.4(NAGLU):c.1694G>A (p.Arg565Gln)
|
rs104894598
|
0.00004
|
NM_000263.4(NAGLU):c.1900G>A (p.Glu634Lys)
|
rs147036053
|
0.00004
|
NM_000289.6(PFKM):c.298C>T (p.Arg100Ter)
|
rs374547385
|
0.00004
|
NM_000293.3(PHKB):c.2427+965A>C
|
rs761645932
|
0.00004
|
NM_000308.4(CTSA):c.1-2A>G
|
rs979557944
|
0.00004
|
NM_000340.2(SLC2A2):c.901C>T (p.Arg301Ter)
|
rs121909743
|
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_000404.4(GLB1):c.176G>A (p.Arg59His)
|
rs72555392
|
0.00004
|
NM_000512.5(GALNS):c.181C>T (p.Arg61Trp)
|
rs145798311
|
0.00004
|
NM_000512.5(GALNS):c.415G>A (p.Gly139Ser)
|
rs146093755
|
0.00004
|
NM_000512.5(GALNS):c.740G>A (p.Gly247Asp)
|
rs761385192
|
0.00004
|
NM_000642.3(AGL):c.3965del (p.Val1322fs)
|
rs113994132
|
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.2341G>A (p.Asp781Asn)
|
rs149399432
|
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_005609.4(PYGM):c.1466C>G (p.Pro489Arg)
|
rs398124209
|
0.00004
|
NM_005609.4(PYGM):c.2312G>A (p.Arg771Gln)
|
rs150911354
|
0.00004
|
NM_021957.4(GYS2):c.1015G>C (p.Ala339Pro)
|
rs121918421
|
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_152419.3(HGSNAT):c.1622C>T (p.Ser541Leu)
|
rs756310864
|
0.00004
|
NM_198586.3(NHLRC1):c.468_469del (p.Gly158fs)
|
rs587776542
|
0.00004
|
NM_000027.4(AGA):c.319C>T (p.Arg107Ter)
|
rs765070743
|
0.00003
|
NM_000027.4(AGA):c.677G>A (p.Gly226Asp)
|
rs386833431
|
0.00003
|
NM_000035.4(ALDOB):c.-11+1G>C
|
rs181639417
|
0.00003
|
NM_000046.5(ARSB):c.1336+2T>G
|
rs768012515
|
0.00003
|
NM_000046.5(ARSB):c.215T>C (p.Leu72Pro)
|
rs397514441
|
0.00003
|
NM_000151.4(G6PC1):c.1022T>A (p.Ile341Asn)
|
rs387906505
|
0.00003
|
NM_000151.4(G6PC1):c.508C>T (p.Arg170Ter)
|
rs373345919
|
0.00003
|
NM_000151.4(G6PC1):c.562G>C (p.Gly188Arg)
|
rs80356482
|
0.00003
|
NM_000152.5(GAA):c.1316T>A (p.Met439Lys)
|
rs747610090
|
0.00003
|
NM_000152.5(GAA):c.1326+1G>A
|
rs1205507761
|
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.307T>G (p.Cys103Gly)
|
rs398123174
|
0.00003
|
NM_000152.5(GAA):c.546G>A (p.Thr182=)
|
rs143523371
|
0.00003
|
NM_000152.5(GAA):c.877G>A (p.Gly293Arg)
|
rs121907945
|
0.00003
|
NM_000152.5(GAA):c.925G>A (p.Gly309Arg)
|
rs543300039
|
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.442C>T (p.Arg148Trp)
|
rs111033693
|
0.00003
|
NM_000155.4(GALT):c.602G>A (p.Arg201His)
|
rs111033735
|
0.00003
|
NM_000158.4(GBE1):c.1571G>A (p.Arg524Gln)
|
rs80338673
|
0.00003
|
NM_000158.4(GBE1):c.708G>C (p.Gln236His)
|
rs137852892
|
0.00003
|
NM_000199.5(SGSH):c.1139A>G (p.Gln380Arg)
|
rs144143780
|
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.1598C>G (p.Pro533Arg)
|
rs121965021
|
0.00003
|
NM_000203.5(IDUA):c.1614del (p.His539fs)
|
rs727503967
|
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_000343.4(SLC5A1):c.187C>T (p.Arg63Ter)
|
rs202166715
|
0.00003
|
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr)
|
rs5030869
|
0.00003
|
NM_000402.4(G6PD):c.682C>T (p.Arg228Cys)
|
rs137852330
|
0.00003
|
NM_000404.4(GLB1):c.1769G>A (p.Arg590His)
|
rs398123351
|
0.00003
|
NM_000404.4(GLB1):c.202C>T (p.Arg68Trp)
|
rs72555370
|
0.00003
|
NM_000404.4(GLB1):c.335A>C (p.His112Pro)
|
rs753965226
|
0.00003
|
NM_000512.5(GALNS):c.1485C>G (p.Asn495Lys)
|
rs886039377
|
0.00003
|
NM_000512.5(GALNS):c.178G>A (p.Asp60Asn)
|
rs118204447
|
0.00003
|
NM_000512.5(GALNS):c.331C>T (p.Gln111Ter)
|
rs200374326
|
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_000642.3(AGL):c.1614C>G (p.Tyr538Ter)
|
rs1188310172
|
0.00003
|
NM_000642.3(AGL):c.16C>T (p.Gln6Ter)
|
rs113994126
|
0.00003
|
NM_000642.3(AGL):c.2681+1G>A
|
rs201201443
|
0.00003
|
NM_000642.3(AGL):c.3652C>T (p.Arg1218Ter)
|
rs771853367
|
0.00003
|
NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter)
|
rs387906244
|
0.00003
|
NM_000925.4(PDHB):c.301A>G (p.Met101Val)
|
rs747573712
|
0.00003
|
NM_001164277.2(SLC37A4):c.446G>A (p.Gly149Glu)
|
rs193302892
|
0.00003
|
NM_001352514.2(HLCS):c.1960+5G>A
|
rs753887925
|
0.00003
|
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp)
|
rs119103229
|
0.00003
|
NM_001352514.2(HLCS):c.2121+1G>A
|
rs1175936807
|
0.00003
|
NM_001370658.1(BTD):c.1036_1037dup (p.Gly347fs)
|
rs1004027979
|
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_002637.4(PHKA1):c.3334G>T (p.Glu1112Ter)
|
rs137852546
|
0.00003
|
NM_003384.3(VRK1):c.356A>G (p.His119Arg)
|
rs371295780
|
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.2352C>A (p.Cys784Ter)
|
rs1057517001
|
0.00003
|
NM_005609.4(PYGM):c.808C>T (p.Arg270Ter)
|
rs767739769
|
0.00003
|
NM_152419.3(HGSNAT):c.1150C>T (p.Arg384Ter)
|
rs775078211
|
0.00003
|
NM_198586.3(NHLRC1):c.436G>A (p.Asp146Asn)
|
rs769301934
|
0.00003
|
NM_000027.4(AGA):c.503G>A (p.Trp168Ter)
|
rs386833430
|
0.00002
|
NM_000046.5(ARSB):c.1143-1G>C
|
rs431905495
|
0.00002
|
NM_000046.5(ARSB):c.1214G>A (p.Cys405Tyr)
|
rs118203941
|
0.00002
|
NM_000046.5(ARSB):c.478C>T (p.Arg160Ter)
|
rs1255777033
|
0.00002
|
NM_000108.5(DLD):c.946C>T (p.Arg316Ter)
|
rs748682601
|
0.00002
|
NM_000147.5(FUCA1):c.1279C>T (p.Gln427Ter)
|
rs118204450
|
0.00002
|
NM_000151.4(G6PC1):c.14T>G (p.Met5Arg)
|
rs1250172816
|
0.00002
|
NM_000151.4(G6PC1):c.365G>A (p.Gly122Asp)
|
rs759982943
|
0.00002
|
NM_000151.4(G6PC1):c.509G>A (p.Arg170Gln)
|
rs750470654
|
0.00002
|
NM_000151.4(G6PC1):c.533C>T (p.Pro178Leu)
|
rs768803329
|
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_000151.4(G6PC1):c.821C>T (p.Ala274Val)
|
rs774212157
|
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.1634C>T (p.Pro545Leu)
|
rs121907942
|
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.1798C>T (p.Arg600Cys)
|
rs764670084
|
0.00002
|
NM_000152.5(GAA):c.1912G>T (p.Gly638Trp)
|
rs757617999
|
0.00002
|
NM_000152.5(GAA):c.1927G>A (p.Gly643Arg)
|
rs28937909
|
0.00002
|
NM_000152.5(GAA):c.2015G>A (p.Arg672Gln)
|
rs778418246
|
0.00002
|
NM_000152.5(GAA):c.2407C>T (p.Gln803Ter)
|
rs1344266804
|
0.00002
|
NM_000152.5(GAA):c.868A>G (p.Asn290Asp)
|
rs552929702
|
0.00002
|
NM_000155.4(GALT):c.626A>G (p.Tyr209Cys)
|
rs111033744
|
0.00002
|
NM_000155.4(GALT):c.997C>G (p.Arg333Gly)
|
rs111033800
|
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_000181.4(GUSB):c.1244+1G>A
|
rs765969571
|
0.00002
|
NM_000199.5(SGSH):c.1040C>T (p.Ser347Phe)
|
rs780239925
|
0.00002
|
NM_000199.5(SGSH):c.1167C>A (p.Asn389Lys)
|
rs764057581
|
0.00002
|
NM_000199.5(SGSH):c.364G>A (p.Gly122Arg)
|
rs761607612
|
0.00002
|
NM_000203.5(IDUA):c.1743C>G (p.Tyr581Ter)
|
rs776787370
|
0.00002
|
NM_000203.5(IDUA):c.1882C>T (p.Arg628Ter)
|
rs756572099
|
0.00002
|
NM_000203.5(IDUA):c.713T>A (p.Leu238Gln)
|
rs148789453
|
0.00002
|
NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu)
|
rs104894595
|
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_000293.3(PHKB):c.1546C>T (p.Gln516Ter)
|
rs758004953
|
0.00002
|
NM_000308.4(CTSA):c.991del (p.Cys331fs)
|
rs745743780
|
0.00002
|
NM_000340.2(SLC2A2):c.1093C>T (p.Arg365Ter)
|
rs121909742
|
0.00002
|
NM_000402.4(G6PD):c.298T>C (p.Tyr100His)
|
rs137852349
|
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.1442G>A (p.Gly481Glu)
|
rs747812191
|
0.00002
|
NM_000404.4(GLB1):c.1445G>A (p.Arg482His)
|
rs72555391
|
0.00002
|
NM_000404.4(GLB1):c.146G>A (p.Arg49His)
|
rs780523881
|
0.00002
|
NM_000404.4(GLB1):c.1580G>A (p.Trp527Ter)
|
rs769781778
|
0.00002
|
NM_000404.4(GLB1):c.175C>T (p.Arg59Cys)
|
rs756878418
|
0.00002
|
NM_000404.4(GLB1):c.203G>A (p.Arg68Gln)
|
rs572237881
|
0.00002
|
NM_000404.4(GLB1):c.276G>A (p.Trp92Ter)
|
rs748830051
|
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_000404.4(GLB1):c.994G>A (p.Asp332Asn)
|
rs781658798
|
0.00002
|
NM_000507.4(FBP1):c.472C>T (p.Arg158Trp)
|
rs766005419
|
0.00002
|
NM_000512.5(GALNS):c.1157G>A (p.Arg386His)
|
rs1221167717
|
0.00002
|
NM_000512.5(GALNS):c.1171A>G (p.Met391Val)
|
rs398123429
|
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.498del (p.Phe167fs)
|
rs772656696
|
0.00002
|
NM_000512.5(GALNS):c.651_652insG (p.Lys218fs)
|
rs1468285336
|
0.00002
|
NM_000512.5(GALNS):c.776G>A (p.Arg259Gln)
|
rs118204442
|
0.00002
|
NM_000512.5(GALNS):c.860C>T (p.Ser287Leu)
|
rs770053354
|
0.00002
|
NM_000512.5(GALNS):c.917T>G (p.Phe306Cys)
|
rs759590432
|
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_000528.4(MAN2B1):c.1026+2T>G
|
rs369099686
|
0.00002
|
NM_000528.4(MAN2B1):c.2013del (p.Pro671_Val672insTer)
|
rs999923581
|
0.00002
|
NM_000528.4(MAN2B1):c.2278C>T (p.Arg760Ter)
|
rs121434331
|
0.00002
|
NM_000642.3(AGL):c.2039G>A (p.Trp680Ter)
|
rs113994129
|
0.00002
|
NM_001008216.2(GALE):c.151C>T (p.Arg51Trp)
|
rs780517804
|
0.00002
|
NM_001164277.2(SLC37A4):c.1179G>A (p.Trp393Ter)
|
rs902775927
|
0.00002
|
NM_001164277.2(SLC37A4):c.460del (p.Ile154fs)
|
rs769726248
|
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.2134C>T (p.Arg712Ter)
|
rs772791252
|
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_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_002863.5(PYGL):c.1366G>A (p.Val456Met)
|
rs113993979
|
0.00002
|
NM_002863.5(PYGL):c.1471C>T (p.Arg491Cys)
|
rs113993980
|
0.00002
|
NM_002863.5(PYGL):c.1768+1G>A
|
rs113993982
|
0.00002
|
NM_002863.5(PYGL):c.911_914dup (p.Leu305fs)
|
rs758943884
|
0.00002
|
NM_003384.3(VRK1):c.1124G>A (p.Trp375Ter)
|
rs184887106
|
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.1948C>T (p.Arg650Ter)
|
rs114073621
|
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.347T>C (p.Leu116Pro)
|
rs776680924
|
0.00002
|
NM_005908.4(MANBA):c.2158-2A>G
|
rs772852668
|
0.00002
|
NM_005908.4(MANBA):c.693G>A (p.Trp231Ter)
|
rs763849774
|
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_152419.3(HGSNAT):c.1250+1G>A
|
rs398124544
|
0.00002
|
NM_152419.3(HGSNAT):c.1411G>A (p.Glu471Lys)
|
rs753355844
|
0.00002
|
NM_152419.3(HGSNAT):c.370A>T (p.Arg124Trp)
|
rs754875934
|
0.00002
|
NM_152419.3(HGSNAT):c.372-2A>G
|
rs483352896
|
0.00002
|
NM_000027.4(AGA):c.1A>G (p.Met1Val)
|
rs1054938291
|
0.00001
|
NM_000027.4(AGA):c.473G>A (p.Trp158Ter)
|
rs745976989
|
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_000035.4(ALDOB):c.612T>A (p.Tyr204Ter)
|
rs370793608
|
0.00001
|
NM_000046.5(ARSB):c.1142+1G>A
|
rs746396210
|
0.00001
|
NM_000046.5(ARSB):c.1142+2T>C
|
rs781510986
|
0.00001
|
NM_000046.5(ARSB):c.1336+1G>A
|
rs376233975
|
0.00001
|
NM_000046.5(ARSB):c.1350G>C (p.Trp450Cys)
|
rs555785323
|
0.00001
|
NM_000046.5(ARSB):c.1366C>T (p.Gln456Ter)
|
rs200188234
|
0.00001
|
NM_000046.5(ARSB):c.1419G>A (p.Trp473Ter)
|
rs1234650208
|
0.00001
|
NM_000046.5(ARSB):c.1449A>T (p.Glu483Asp)
|
rs1064793027
|
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.262C>T (p.Gln88Ter)
|
rs1299207831
|
0.00001
|
NM_000046.5(ARSB):c.284G>A (p.Arg95Gln)
|
rs118203942
|
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.571C>T (p.Arg191Ter)
|
rs371886102
|
0.00001
|
NM_000046.5(ARSB):c.944G>A (p.Arg315Gln)
|
rs727503809
|
0.00001
|
NM_000108.5(DLD):c.104dup (p.Tyr35Ter)
|
rs753234219
|
0.00001
|
NM_000108.5(DLD):c.803_804del (p.Gln268fs)
|
rs764611160
|
0.00001
|
NM_000147.5(FUCA1):c.244C>T (p.Gln82Ter)
|
rs80358196
|
0.00001
|
NM_000147.5(FUCA1):c.551C>G (p.Ser184Ter)
|
rs997047045
|
0.00001
|
NM_000147.5(FUCA1):c.790C>T (p.Arg264Ter)
|
rs587779399
|
0.00001
|
NM_000147.5(FUCA1):c.882G>C (p.Glu294Asp)
|
rs1483687600
|
0.00001
|
NM_000151.4(G6PC1):c.161A>C (p.Gln54Pro)
|
rs1057517008
|
0.00001
|
NM_000151.4(G6PC1):c.209G>A (p.Trp70Ter)
|
rs1567702823
|
0.00001
|
NM_000151.4(G6PC1):c.231-1G>A
|
rs1555559279
|
0.00001
|
NM_000151.4(G6PC1):c.248G>A (p.Arg83His)
|
rs1801176
|
0.00001
|
NM_000151.4(G6PC1):c.326G>A (p.Cys109Tyr)
|
rs886052955
|
0.00001
|
NM_000151.4(G6PC1):c.370G>A (p.Ala124Thr)
|
rs104894568
|
0.00001
|
NM_000151.4(G6PC1):c.500G>A (p.Cys167Tyr)
|
rs777552825
|
0.00001
|
NM_000151.4(G6PC1):c.518T>C (p.Leu173Pro)
|
rs775826449
|
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.883C>T (p.Arg295Cys)
|
rs104894563
|
0.00001
|
NM_000152.5(GAA):c.1064T>C (p.Leu355Pro)
|
rs766074609
|
0.00001
|
NM_000152.5(GAA):c.1076-1G>C
|
rs1555600050
|
0.00001
|
NM_000152.5(GAA):c.1082C>T (p.Pro361Leu)
|
rs755253527
|
0.00001
|
NM_000152.5(GAA):c.1123C>T (p.Arg375Cys)
|
rs372486238
|
0.00001
|
NM_000152.5(GAA):c.118C>T (p.Arg40Ter)
|
rs767409395
|
0.00001
|
NM_000152.5(GAA):c.1210G>A (p.Asp404Asn)
|
rs141533320
|
0.00001
|
NM_000152.5(GAA):c.1211A>G (p.Asp404Gly)
|
rs886042961
|
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.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.1610del (p.Glu537fs)
|
rs762060817
|
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.1754+1G>A
|
rs886043399
|
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.1822C>T (p.Arg608Ter)
|
rs749529161
|
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.1958C>A (p.Thr653Asn)
|
rs763456921
|
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.2331+2T>A
|
rs1057517148
|
0.00001
|
NM_000152.5(GAA):c.2512C>T (p.Gln838Ter)
|
rs369532274
|
0.00001
|
NM_000152.5(GAA):c.2647-7G>A
|
rs192679574
|
0.00001
|
NM_000152.5(GAA):c.2662G>T (p.Glu888Ter)
|
rs765718882
|
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.365del (p.Met122fs)
|
rs786204661
|
0.00001
|
NM_000152.5(GAA):c.568C>T (p.Arg190Cys)
|
rs771258854
|
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.701C>T (p.Thr234Met)
|
rs752054011
|
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_000154.2(GALK1):c.1059del (p.Thr354fs)
|
rs2061564118
|
0.00001
|
NM_000154.2(GALK1):c.611+1G>T
|
rs982043960
|
0.00001
|
NM_000154.2(GALK1):c.793+1G>T
|
rs767790909
|
0.00001
|
NM_000154.2(GALK1):c.82C>A (p.Pro28Thr)
|
rs104894572
|
0.00001
|
NM_000155.4(GALT):c.1014C>G (p.Gly338=)
|
rs111033811
|
0.00001
|
NM_000155.4(GALT):c.1138T>C (p.Ter380Arg)
|
rs111033824
|
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.252+1G>A
|
rs768154316
|
0.00001
|
NM_000155.4(GALT):c.307C>T (p.Gln103Ter)
|
rs1225091358
|
0.00001
|
NM_000155.4(GALT):c.329-2A>C
|
rs111033667
|
0.00001
|
NM_000155.4(GALT):c.367C>G (p.Arg123Gly)
|
rs111033674
|
0.00001
|
NM_000155.4(GALT):c.379A>G (p.Lys127Glu)
|
rs111033682
|
0.00001
|
NM_000155.4(GALT):c.396C>A (p.His132Gln)
|
rs367543256
|
0.00001
|
NM_000155.4(GALT):c.425T>A (p.Met142Lys)
|
rs111033695
|
0.00001
|
NM_000155.4(GALT):c.443G>A (p.Arg148Gln)
|
rs111033694
|
0.00001
|
NM_000155.4(GALT):c.556C>T (p.His186Tyr)
|
rs111033725
|
0.00001
|
NM_000155.4(GALT):c.575G>A (p.Ser192Asn)
|
rs111033734
|
0.00001
|
NM_000155.4(GALT):c.601C>T (p.Arg201Cys)
|
rs111033739
|
0.00001
|
NM_000155.4(GALT):c.607G>A (p.Glu203Lys)
|
rs111033736
|
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.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.998G>A (p.Arg333Gln)
|
rs111033808
|
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.1604A>G (p.Tyr535Cys)
|
rs886058900
|
0.00001
|
NM_000158.4(GBE1):c.1621A>G (p.Asn541Asp)
|
rs1703086906
|
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.1909C>T (p.Arg637Ter)
|
rs766935302
|
0.00001
|
NM_000158.4(GBE1):c.42C>G (p.Tyr14Ter)
|
rs1328296506
|
0.00001
|
NM_000158.4(GBE1):c.808C>T (p.Gln270Ter)
|
rs559653237
|
0.00001
|
NM_000158.4(GBE1):c.895G>T (p.Gly299Ter)
|
rs779475367
|
0.00001
|
NM_000158.4(GBE1):c.955C>T (p.His319Tyr)
|
rs767100121
|
0.00001
|
NM_000181.4(GUSB):c.1144C>T (p.Arg382Cys)
|
rs121918173
|
0.00001
|
NM_000181.4(GUSB):c.1337G>A (p.Trp446Ter)
|
rs1434169374
|
0.00001
|
NM_000181.4(GUSB):c.1521G>A (p.Trp507Ter)
|
rs121918179
|
0.00001
|
NM_000181.4(GUSB):c.163C>T (p.Arg55Ter)
|
rs1210475838
|
0.00001
|
NM_000181.4(GUSB):c.1651C>T (p.Gln551Ter)
|
rs1344332366
|
0.00001
|
NM_000199.5(SGSH):c.1093C>T (p.Gln365Ter)
|
rs1459579613
|
0.00001
|
NM_000199.5(SGSH):c.1105G>A (p.Glu369Lys)
|
rs104894640
|
0.00001
|
NM_000199.5(SGSH):c.1135del (p.Val379fs)
|
rs777956287
|
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.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.302T>C (p.Phe101Ser)
|
rs1211675075
|
0.00001
|
NM_000199.5(SGSH):c.376dup (p.Val126fs)
|
rs1555621971
|
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.571G>A (p.Gly191Arg)
|
rs753666460
|
0.00001
|
NM_000199.5(SGSH):c.582T>A (p.Cys194Ter)
|
rs1555621659
|
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_000202.8(IDS):c.1403G>A (p.Arg468Gln)
|
rs113993946
|
0.00001
|
NM_000203.5(IDUA):c.1045G>A (p.Asp349Asn)
|
rs368454909
|
0.00001
|
NM_000203.5(IDUA):c.1139A>G (p.Gln380Arg)
|
rs762903007
|
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.1402+1G>T
|
rs398123254
|
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.152G>A (p.Gly51Asp)
|
rs794726877
|
0.00001
|
NM_000203.5(IDUA):c.158+1G>A
|
rs1264013707
|
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.1898C>T (p.Ser633Leu)
|
rs886043347
|
0.00001
|
NM_000203.5(IDUA):c.191_192del (p.Tyr64fs)
|
rs794727240
|
0.00001
|
NM_000203.5(IDUA):c.223G>A (p.Ala75Thr)
|
rs758452450
|
0.00001
|
NM_000203.5(IDUA):c.265C>T (p.Arg89Trp)
|
rs754966840
|
0.00001
|
NM_000203.5(IDUA):c.266G>A (p.Arg89Gln)
|
rs121965029
|
0.00001
|
NM_000203.5(IDUA):c.386-2A>G
|
rs777295041
|
0.00001
|
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro)
|
rs794726878
|
0.00001
|
NM_000203.5(IDUA):c.623G>A (p.Gly208Asp)
|
rs1430681871
|
0.00001
|
NM_000203.5(IDUA):c.653T>C (p.Leu218Pro)
|
rs869025584
|
0.00001
|
NM_000203.5(IDUA):c.719A>G (p.His240Arg)
|
rs1297784711
|
0.00001
|
NM_000203.5(IDUA):c.87del (p.His30fs)
|
rs1193085446
|
0.00001
|
NM_000262.3(NAGA):c.443G>A (p.Trp148Ter)
|
rs781137026
|
0.00001
|
NM_000263.4(NAGLU):c.1004A>G (p.Tyr335Cys)
|
rs768918822
|
0.00001
|
NM_000263.4(NAGLU):c.1081T>C (p.Trp361Arg)
|
rs766000735
|
0.00001
|
NM_000263.4(NAGLU):c.1162C>T (p.Gln388Ter)
|
rs879111128
|
0.00001
|
NM_000263.4(NAGLU):c.1200del (p.Gln400fs)
|
rs1485628563
|
0.00001
|
NM_000263.4(NAGLU):c.1241A>G (p.His414Arg)
|
rs768814260
|
0.00001
|
NM_000263.4(NAGLU):c.1277G>A (p.Gly426Asp)
|
rs771151036
|
0.00001
|
NM_000263.4(NAGLU):c.1354G>A (p.Glu452Lys)
|
rs1183634153
|
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.1489C>G (p.Leu497Val)
|
rs1353058781
|
0.00001
|
NM_000263.4(NAGLU):c.1597C>T (p.Arg533Ter)
|
rs1244655820
|
0.00001
|
NM_000263.4(NAGLU):c.1772T>C (p.Leu591Pro)
|
rs1215582852
|
0.00001
|
NM_000263.4(NAGLU):c.1927C>T (p.Arg643Cys)
|
rs104894594
|
0.00001
|
NM_000263.4(NAGLU):c.1949G>A (p.Gly650Glu)
|
rs527236037
|
0.00001
|
NM_000263.4(NAGLU):c.1973A>G (p.Tyr658Cys)
|
rs1230894568
|
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.432G>A (p.Trp144Ter)
|
rs748042028
|
0.00001
|
NM_000263.4(NAGLU):c.607C>T (p.Arg203Ter)
|
rs1279412522
|
0.00001
|
NM_000263.4(NAGLU):c.694C>T (p.Gln232Ter)
|
rs886043792
|
0.00001
|
NM_000263.4(NAGLU):c.700C>T (p.Arg234Cys)
|
rs104894601
|
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_000263.4(NAGLU):c.942C>G (p.Phe314Leu)
|
rs118204025
|
0.00001
|
NM_000289.6(PFKM):c.1127G>A (p.Arg376Gln)
|
rs187131358
|
0.00001
|
NM_000289.6(PFKM):c.1294C>T (p.Arg432Ter)
|
rs41291965
|
0.00001
|
NM_000289.6(PFKM):c.292C>T (p.Arg98Ter)
|
rs138893744
|
0.00001
|
NM_000290.4(PGAM2):c.331C>T (p.Gln111Ter)
|
rs764676548
|
0.00001
|
NM_000293.3(PHKB):c.2014C>T (p.Arg672Ter)
|
rs1273669177
|
0.00001
|
NM_000293.3(PHKB):c.2725C>T (p.Gln909Ter)
|
rs748262135
|
0.00001
|
NM_000293.3(PHKB):c.522del (p.Val175fs)
|
rs1242540921
|
0.00001
|
NM_000294.3(PHKG2):c.226C>T (p.Arg76Ter)
|
rs1450937339
|
0.00001
|
NM_000294.3(PHKG2):c.22G>T (p.Glu8Ter)
|
rs375063162
|
0.00001
|
NM_000294.3(PHKG2):c.502C>T (p.Arg168Ter)
|
rs778952896
|
0.00001
|
NM_000294.3(PHKG2):c.553C>T (p.Arg185Ter)
|
rs1270523244
|
0.00001
|
NM_000308.4(CTSA):c.1123C>T (p.Arg375Ter)
|
rs1189568492
|
0.00001
|
NM_000308.4(CTSA):c.699G>A (p.Trp233Ter)
|
rs766114836
|
0.00001
|
NM_000340.2(SLC2A2):c.963+1G>A
|
rs371977235
|
0.00001
|
NM_000343.4(SLC5A1):c.1673G>A (p.Arg558His)
|
rs201799893
|
0.00001
|
NM_000343.4(SLC5A1):c.875G>A (p.Cys292Tyr)
|
rs765502638
|
0.00001
|
NM_000402.4(G6PD):c.1451G>A (p.Arg484His)
|
rs137852324
|
0.00001
|
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr)
|
rs76645461
|
0.00001
|
NM_000402.4(G6PD):c.607T>C (p.Phe203Leu)
|
rs137852343
|
0.00001
|
NM_000404.4(GLB1):c.1038G>T (p.Lys346Asn)
|
rs749980306
|
0.00001
|
NM_000404.4(GLB1):c.1051C>T (p.Arg351Ter)
|
rs72555372
|
0.00001
|
NM_000404.4(GLB1):c.1255C>T (p.Arg419Trp)
|
rs747709527
|
0.00001
|
NM_000404.4(GLB1):c.1258A>C (p.Thr420Pro)
|
rs200181401
|
0.00001
|
NM_000404.4(GLB1):c.1276T>G (p.Cys426Gly)
|
rs765230559
|
0.00001
|
NM_000404.4(GLB1):c.1369C>T (p.Arg457Ter)
|
rs72555359
|
0.00001
|
NM_000404.4(GLB1):c.1370G>A (p.Arg457Gln)
|
rs28934886
|
0.00001
|
NM_000404.4(GLB1):c.1444C>T (p.Arg482Cys)
|
rs72555365
|
0.00001
|
NM_000404.4(GLB1):c.1454A>G (p.Tyr485Cys)
|
rs1553606400
|
0.00001
|
NM_000404.4(GLB1):c.145C>T (p.Arg49Cys)
|
rs72555358
|
0.00001
|
NM_000404.4(GLB1):c.1471G>A (p.Asp491Asn)
|
rs780232995
|
0.00001
|
NM_000404.4(GLB1):c.1479+1G>A
|
rs1022476871
|
0.00001
|
NM_000404.4(GLB1):c.1480-2A>G
|
rs587776526
|
0.00001
|
NM_000404.4(GLB1):c.1498A>G (p.Thr500Ala)
|
rs72555368
|
0.00001
|
NM_000404.4(GLB1):c.149A>G (p.Tyr50Cys)
|
rs1207569870
|
0.00001
|
NM_000404.4(GLB1):c.1646C>T (p.Pro549Leu)
|
rs776327443
|
0.00001
|
NM_000404.4(GLB1):c.1699C>T (p.Gln567Ter)
|
rs1295295164
|
0.00001
|
NM_000404.4(GLB1):c.1746G>A (p.Trp582Ter)
|
rs778375259
|
0.00001
|
NM_000404.4(GLB1):c.1768C>T (p.Arg590Cys)
|
rs794727165
|
0.00001
|
NM_000404.4(GLB1):c.1772A>G (p.Tyr591Cys)
|
rs72555371
|
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.367G>A (p.Gly123Arg)
|
rs28934274
|
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.446C>T (p.Ser149Phe)
|
rs778700089
|
0.00001
|
NM_000404.4(GLB1):c.481T>G (p.Trp161Gly)
|
rs398123355
|
0.00001
|
NM_000404.4(GLB1):c.569G>A (p.Gly190Asp)
|
rs756575833
|
0.00001
|
NM_000404.4(GLB1):c.699del (p.Gln234fs)
|
rs1452318343
|
0.00001
|
NM_000404.4(GLB1):c.785G>C (p.Gly262Ala)
|
rs377174858
|
0.00001
|
NM_000404.4(GLB1):c.808T>G (p.Tyr270Asp)
|
rs376663785
|
0.00001
|
NM_000404.4(GLB1):c.902C>T (p.Ala301Val)
|
rs750531880
|
0.00001
|
NM_000404.4(GLB1):c.931G>A (p.Gly311Arg)
|
rs368568171
|
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.1164C>A (p.Asp388Glu)
|
rs752339162
|
0.00001
|
NM_000512.5(GALNS):c.1175C>T (p.Ala392Val)
|
rs398123430
|
0.00001
|
NM_000512.5(GALNS):c.118G>C (p.Asp40His)
|
rs1967935603
|
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.1240C>T (p.Gln414Ter)
|
rs757870208
|
0.00001
|
NM_000512.5(GALNS):c.139G>A (p.Gly47Arg)
|
rs199638097
|
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.1A>T (p.Met1Leu)
|
rs771531650
|
0.00001
|
NM_000512.5(GALNS):c.268C>T (p.Arg90Trp)
|
rs1028668536
|
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.320-1G>T
|
rs1245504167
|
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.477G>A (p.Trp159Ter)
|
rs398123439
|
0.00001
|
NM_000512.5(GALNS):c.485C>T (p.Ser162Phe)
|
rs118204444
|
0.00001
|
NM_000512.5(GALNS):c.502G>A (p.Gly168Arg)
|
rs775732598
|
0.00001
|
NM_000512.5(GALNS):c.641T>C (p.Leu214Pro)
|
rs771810111
|
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.719A>G (p.Tyr240Cys)
|
rs752039956
|
0.00001
|
NM_000512.5(GALNS):c.752G>A (p.Arg251Gln)
|
rs1199639828
|
0.00001
|
NM_000512.5(GALNS):c.868G>A (p.Gly290Ser)
|
rs975409254
|
0.00001
|
NM_000512.5(GALNS):c.898+1G>A
|
rs761850746
|
0.00001
|
NM_000512.5(GALNS):c.898+1G>C
|
rs761850746
|
0.00001
|
NM_000512.5(GALNS):c.899-1G>C
|
rs745523154
|
0.00001
|
NM_000512.5(GALNS):c.911G>T (p.Gly304Val)
|
rs758439379
|
0.00001
|
NM_000512.5(GALNS):c.953T>G (p.Met318Arg)
|
rs746756997
|
0.00001
|
NM_000528.4(MAN2B1):c.1117A>T (p.Lys373Ter)
|
rs778554304
|
0.00001
|
NM_000528.4(MAN2B1):c.1351G>T (p.Gly451Cys)
|
rs368899357
|
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.1687G>T (p.Glu563Ter)
|
rs1057516927
|
0.00001
|
NM_000528.4(MAN2B1):c.1831-2A>G
|
rs80338678
|
0.00001
|
NM_000528.4(MAN2B1):c.2920dup (p.Thr974fs)
|
rs774791244
|
0.00001
|
NM_000528.4(MAN2B1):c.308C>T (p.Ser103Leu)
|
rs1369134650
|
0.00001
|
NM_000528.4(MAN2B1):c.422del (p.Asp141fs)
|
rs778399351
|
0.00001
|
NM_000528.4(MAN2B1):c.562C>T (p.Arg188Ter)
|
rs1429239930
|
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_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.1222C>T (p.Arg408Ter)
|
rs113994128
|
0.00001
|
NM_000642.3(AGL):c.1571G>A (p.Arg524His)
|
rs758182700
|
0.00001
|
NM_000642.3(AGL):c.1735+1G>T
|
rs199922945
|
0.00001
|
NM_000642.3(AGL):c.1783C>T (p.Arg595Ter)
|
rs765367405
|
0.00001
|
NM_000642.3(AGL):c.1900-2A>G
|
rs1254391875
|
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.2520_2524dup (p.Pro842fs)
|
rs759727721
|
0.00001
|
NM_000642.3(AGL):c.2728C>T (p.Arg910Ter)
|
rs773095419
|
0.00001
|
NM_000642.3(AGL):c.276del (p.Gln92fs)
|
rs1057517243
|
0.00001
|
NM_000642.3(AGL):c.2929C>T (p.Arg977Ter)
|
rs531425980
|
0.00001
|
NM_000642.3(AGL):c.3014del (p.Cys1005fs)
|
rs754653701
|
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.3976del (p.Glu1326fs)
|
rs1654902207
|
0.00001
|
NM_000642.3(AGL):c.4353G>T (p.Trp1451Cys)
|
rs775685508
|
0.00001
|
NM_000642.3(AGL):c.595C>T (p.Gln199Ter)
|
rs780694207
|
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.853C>T (p.Arg285Ter)
|
rs755747010
|
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.430G>A (p.Gly144Ser)
|
rs199473378
|
0.00001
|
NM_001008216.2(GALE):c.280G>A (p.Val94Met)
|
rs121908047
|
0.00001
|
NM_001008216.2(GALE):c.449C>T (p.Thr150Met)
|
rs765353795
|
0.00001
|
NM_001040716.2(PC):c.1663C>T (p.Arg555Ter)
|
rs766242199
|
0.00001
|
NM_001164277.2(SLC37A4):c.110C>A (p.Ser37Ter)
|
rs1444468055
|
0.00001
|
NM_001164277.2(SLC37A4):c.1124+1G>T
|
rs782630676
|
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.340C>T (p.Gln114Ter)
|
rs782313064
|
0.00001
|
NM_001164277.2(SLC37A4):c.352T>C (p.Trp118Arg)
|
rs80356489
|
0.00001
|
NM_001164277.2(SLC37A4):c.381+2T>G
|
rs782645078
|
0.00001
|
NM_001164277.2(SLC37A4):c.443C>T (p.Ala148Val)
|
rs193302879
|
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.59G>A (p.Gly20Asp)
|
rs193302881
|
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.82C>T (p.Arg28Cys)
|
rs193302882
|
0.00001
|
NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His)
|
rs121908978
|
0.00001
|
NM_001164277.2(SLC37A4):c.936dup (p.Val313fs)
|
rs782172072
|
0.00001
|
NM_001352514.2(HLCS):c.1088T>G (p.Leu363Arg)
|
rs28934602
|
0.00001
|
NM_001352514.2(HLCS):c.1096dup (p.Ile366fs)
|
rs773102942
|
0.00001
|
NM_001352514.2(HLCS):c.2182G>A (p.Gly728Ser)
|
rs119103230
|
0.00001
|
NM_001352514.2(HLCS):c.2361_2362insT (p.Val788fs)
|
rs760372711
|
0.00001
|
NM_001360016.2(G6PD):c.1347G>C (p.Gln449His)
|
rs1557229572
|
0.00001
|
NM_001360016.2(G6PD):c.383T>C (p.Leu128Pro)
|
rs78365220
|
0.00001
|
NM_001370658.1(BTD):c.1207T>C (p.Cys403Arg)
|
rs397514412
|
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.1559A>G (p.Tyr520Cys)
|
rs397514431
|
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.250-15del
|
rs587783008
|
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.409C>T (p.Arg137Cys)
|
rs397514363
|
0.00001
|
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser)
|
rs119103232
|
0.00001
|
NM_001370658.1(BTD):c.425C>T (p.Ala142Val)
|
rs397514364
|
0.00001
|
NM_001370658.1(BTD):c.523A>G (p.Asn175Asp)
|
rs397514370
|
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.583C>T (p.Leu195Phe)
|
rs190386869
|
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.754T>G (p.Trp252Gly)
|
rs397514387
|
0.00001
|
NM_001370658.1(BTD):c.875G>A (p.Gly292Asp)
|
rs377651057
|
0.00001
|
NM_001370658.1(BTD):c.941_942del (p.Ile314fs)
|
rs749162799
|
0.00001
|
NM_001739.2(CA5A):c.94C>T (p.Arg32Ter)
|
rs767402215
|
0.00001
|
NM_001931.5(DLAT):c.412G>T (p.Glu138Ter)
|
rs781991355
|
0.00001
|
NM_002076.4(GNS):c.1021_1022insTCTT (p.Arg341fs)
|
rs1470760407
|
0.00001
|
NM_002076.4(GNS):c.355del (p.Ser119fs)
|
rs749187018
|
0.00001
|
NM_002076.4(GNS):c.875+2del
|
rs1219484230
|
0.00001
|
NM_002103.5(GYS1):c.1384C>T (p.Arg462Ter)
|
rs121434584
|
0.00001
|
NM_002637.4(PHKA1):c.1174C>T (p.Arg392Ter)
|
rs1556299510
|
0.00001
|
NM_002637.4(PHKA1):c.1759C>T (p.Arg587Ter)
|
rs1157788242
|
0.00001
|
NM_002863.5(PYGL):c.1726C>T (p.Arg576Ter)
|
rs774646420
|
0.00001
|
NM_002863.5(PYGL):c.698G>A (p.Gly233Asp)
|
rs113993975
|
0.00001
|
NM_003384.3(VRK1):c.1132_1133insT (p.Thr378fs)
|
rs892468166
|
0.00001
|
NM_003384.3(VRK1):c.265C>T (p.Arg89Ter)
|
rs772263867
|
0.00001
|
NM_003384.3(VRK1):c.266G>A (p.Arg89Gln)
|
rs773138218
|
0.00001
|
NM_003384.3(VRK1):c.6del (p.Arg3fs)
|
rs780789145
|
0.00001
|
NM_003384.3(VRK1):c.9del (p.Arg3_Val4insTer)
|
rs752086581
|
0.00001
|
NM_004130.4(GYG1):c.631del (p.Val211fs)
|
rs1429663478
|
0.00001
|
NM_005609.4(PYGM):c.1147G>A (p.Glu383Lys)
|
rs757681143
|
0.00001
|
NM_005609.4(PYGM):c.1159del (p.Arg387fs)
|
rs2058376454
|
0.00001
|
NM_005609.4(PYGM):c.1239+1G>A
|
rs759657964
|
0.00001
|
NM_005609.4(PYGM):c.1349C>T (p.Ser450Leu)
|
rs756251887
|
0.00001
|
NM_005609.4(PYGM):c.1353dup (p.Ala452fs)
|
rs779562449
|
0.00001
|
NM_005609.4(PYGM):c.1628A>C (p.Lys543Thr)
|
rs119103252
|
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.1726C>T (p.Arg576Ter)
|
rs119103255
|
0.00001
|
NM_005609.4(PYGM):c.1827G>A (p.Lys609=)
|
rs119103259
|
0.00001
|
NM_005609.4(PYGM):c.2024C>T (p.Ser675Leu)
|
rs794727189
|
0.00001
|
NM_005609.4(PYGM):c.2111C>T (p.Ala704Val)
|
rs1483102315
|
0.00001
|
NM_005609.4(PYGM):c.2385_2386del (p.Glu797fs)
|
rs750080547
|
0.00001
|
NM_005609.4(PYGM):c.280C>T (p.Arg94Trp)
|
rs370247862
|
0.00001
|
NM_005609.4(PYGM):c.475G>A (p.Gly159Arg)
|
rs760654579
|
0.00001
|
NM_005609.4(PYGM):c.549G>A (p.Trp183Ter)
|
rs1223885403
|
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_005908.4(MANBA):c.1434del (p.Lys479fs)
|
rs776601022
|
0.00001
|
NM_005908.4(MANBA):c.1622G>A (p.Trp541Ter)
|
rs771865668
|
0.00001
|
NM_005908.4(MANBA):c.1628G>A (p.Trp543Ter)
|
rs1309076303
|
0.00001
|
NM_005908.4(MANBA):c.279G>A (p.Trp93Ter)
|
rs1035305358
|
0.00001
|
NM_005908.4(MANBA):c.375A>G (p.Arg125=)
|
rs771587242
|
0.00001
|
NM_005908.4(MANBA):c.563_572dup (p.Asp191_Trp192insTer)
|
rs752343321
|
0.00001
|
NM_005908.4(MANBA):c.731C>G (p.Ser244Ter)
|
rs1553948361
|
0.00001
|
NM_005908.4(MANBA):c.960+1G>A
|
rs890870104
|
0.00001
|
NM_006859.4(LIAS):c.100A>T (p.Lys34Ter)
|
rs764858363
|
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.1259+1G>A
|
rs146095590
|
0.00001
|
NM_012434.5(SLC17A5):c.667dup (p.Tyr223fs)
|
rs1472109408
|
0.00001
|
NM_012434.5(SLC17A5):c.795_796insTT (p.Ile266fs)
|
rs1768947811
|
0.00001
|
NM_016042.4(EXOSC3):c.2T>C (p.Met1Thr)
|
rs1325914775
|
0.00001
|
NM_016203.4(PRKAG2):c.905G>A (p.Arg302Gln)
|
rs121908987
|
0.00001
|
NM_016219.5(MAN1B1):c.172G>T (p.Glu58Ter)
|
rs753503405
|
0.00001
|
NM_016219.5(MAN1B1):c.484C>T (p.Gln162Ter)
|
rs1207589187
|
0.00001
|
NM_021957.4(GYS2):c.457del (p.Met152_Leu153insTer)
|
rs1307281520
|
0.00001
|
NM_021957.4(GYS2):c.925C>T (p.Arg309Ter)
|
rs267603422
|
0.00001
|
NM_024989.4(PGAP1):c.1396C>T (p.Gln466Ter)
|
rs143038880
|
0.00001
|
NM_024989.4(PGAP1):c.1663C>T (p.Gln555Ter)
|
rs755341613
|
0.00001
|
NM_024989.4(PGAP1):c.1952+1G>C
|
rs587777202
|
0.00001
|
NM_024989.4(PGAP1):c.2357_2358insTA (p.Arg786fs)
|
rs767774867
|
0.00001
|
NM_031229.4(RBCK1):c.1054C>T (p.Arg352Ter)
|
rs780854072
|
0.00001
|
NM_031229.4(RBCK1):c.697_703dup (p.Glu235fs)
|
rs730880330
|
0.00001
|
NM_033159.4(HYAL1):c.773C>G (p.Ser258Ter)
|
rs782355058
|
0.00001
|
NM_033159.4(HYAL1):c.787C>T (p.Gln263Ter)
|
rs782240278
|
0.00001
|
NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys)
|
rs121908285
|
0.00001
|
NM_152419.3(HGSNAT):c.1345dup (p.Asp449fs)
|
rs483352894
|
0.00001
|
NM_152419.3(HGSNAT):c.1348del (p.Asp450fs)
|
rs771455190
|
0.00001
|
NM_152419.3(HGSNAT):c.1464+1G>A
|
rs398124545
|
0.00001
|
NM_152419.3(HGSNAT):c.1516C>T (p.Arg506Ter)
|
rs747240928
|
0.00001
|
NM_152419.3(HGSNAT):c.1553C>T (p.Ser518Phe)
|
rs121908286
|
0.00001
|
NM_152419.3(HGSNAT):c.234+1G>A
|
rs483352908
|
0.00001
|
NM_152419.3(HGSNAT):c.607C>T (p.Arg203Ter)
|
rs1563366896
|
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_198586.3(NHLRC1):c.386C>A (p.Pro129His)
|
rs750465793
|
0.00001
|
G6PD Amsterdam
|
rs2070404412
|
|
NC_000001.10:g.(?_100316599)_(100316700_?)del
|
|
|
NC_000001.10:g.(?_100340233)_(100343394_?)del
|
|
|
NC_000001.10:g.(?_100366182)_(100368360_?)del
|
|
|
NC_000001.10:g.(?_100366308)_(100367832_?)del
|
|
|
NC_000001.10:g.(?_100368229)_(100368360_?)del
|
|
|
NC_000001.10:g.(?_100380935)_(100382063_?)del
|
|
|
NC_000001.10:g.(?_24172205)_(24194776_?)del
|
|
|
NC_000001.10:g.(?_24191961)_(24194776_?)del
|
|
|
NC_000001.11:g.(?_23859778)_(23859923_?)del
|
|
|
NC_000001.11:g.(?_99892422)_(99892617_?)del
|
|
|
NC_000001.11:g.(?_99902663)_(99902814_?)del
|
|
|
NC_000001.11:g.(?_99910692)_(99910867_?)del
|
|
|
NC_000001.11:g.(?_99910692)_(99913758_?)del
|
|
|
NC_000001.11:g.99891220del
|
rs2100788198
|
|
NC_000003.11:g.(?_148447967)_(151176497_?)del
|
|
|
NC_000003.11:g.(?_15512023)_(15687154_?)del
|
|
|
NC_000003.11:g.(?_15643358)_(15643421_?)del
|
|
|
NC_000003.11:g.(?_15643358)_(15683584_?)del
|
|
|
NC_000003.11:g.(?_15683405)_(15687154_?)del
|
|
|
NC_000003.11:g.(?_170727727)_(170727891_?)del
|
|
|
NC_000003.11:g.(?_170732238)_(170732540_?)del
|
|
|
NC_000003.11:g.(?_33055538)_(33055812_?)del
|
|
|
NC_000003.11:g.(?_33099561)_(33099781_?)del
|
|
|
NC_000003.11:g.(?_33106935)_(33110482_?)del
|
|
|
NC_000003.11:g.(?_33106935)_(33114225_?)del
|
|
|
NC_000003.11:g.(?_50338409)_(50341042_?)del
|
|
|
NC_000003.11:g.(?_50339478)_(50341042_?)del
|
|
|
NC_000003.11:g.(?_50340112)_(50342638_?)del
|
|
|
NC_000003.11:g.(?_81539548)_(81699082_?)del
|
|
|
NC_000003.11:g.(?_81539548)_(81754774_?)del
|
|
|
NC_000003.11:g.(?_81584336)_(81584486_?)del
|
|
|
NC_000003.11:g.(?_81584336)_(81754774_?)del
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|
NC_000003.11:g.(?_81584336)_(81810678_?)del
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NC_000003.11:g.(?_81627056)_(81810688_?)del
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NC_000003.11:g.(?_81627066)_(81643184_?)del
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NC_000003.11:g.(?_81627066)_(81754774_?)del
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NC_000003.11:g.(?_81691922)_(81699082_?)del
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NC_000003.11:g.(?_81691922)_(81754774_?)del
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NC_000003.11:g.(?_81695533)_(81695643_?)del
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NC_000003.11:g.(?_81810516)_(81810678_?)del
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NC_000003.12:g.(?_15601831)_(15601914_?)del
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NC_000003.12:g.(?_33097001)_(33097095_?)del
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NC_000003.12:g.(?_81490387)_(81761537_?)del
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NC_000003.12:g.(?_81490397)_(81761527_?)del
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NC_000003.12:g.(?_81499090)_(81761537_?)del
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NC_000003.12:g.(?_81591027)_(81594033_?)del
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NC_000003.12:g.(?_81642771)_(81643000_?)del
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NC_000003.12:g.(?_81642771)_(81670963_?)del
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NC_000003.12:g.(?_81646382)_(81670963_?)del
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NC_000003.12:g.(?_81761375)_(81761517_?)del
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NC_000003.12:g.148996742del
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|
NC_000003.12:g.81594024_81594025insGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAATTCCCAGC
|
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NC_000004.11:g.(?_101947022)_(104640832_?)del
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NC_000004.11:g.(?_178351918)_(178357515_?)del
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NC_000004.11:g.(?_178357420)_(178363667_?)del
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NC_000004.11:g.(?_178363393)_(178363667_?)del
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NC_000004.11:g.(?_980775)_(981040_?)del
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NC_000004.11:g.(?_980775)_(981747_?)del
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NC_000004.11:g.(?_994390)_(998355_?)del
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NC_000004.11:g.(?_996510)_(998355_?)del
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NC_000005.10:g.(?_78964406)_(78969202_?)del
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NC_000005.9:g.(?_77385207)_(78135259_?)del
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NC_000005.9:g.(?_78076210)_(78181660_?)del
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NC_000005.9:g.(?_78111899)_(78135259_?)del
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NC_000005.9:g.(?_78251108)_(78251335_?)del
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NC_000005.9:g.(?_78251108)_(78281081_?)del
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|
NC_000005.9:g.(?_78260219)_(78265035_?)del
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NC_000006.11:g.(?_18121650)_(18149358_?)del
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NC_000006.11:g.(?_72596727)_(74363609_?)del
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NC_000006.11:g.(?_74304790)_(74310174_?)del
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NC_000006.11:g.(?_74304790)_(74354336_?)del
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NC_000006.11:g.(?_74310064)_(74310174_?)del
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NC_000006.11:g.(?_74320103)_(74320290_?)del
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NC_000006.11:g.(?_74325018)_(74325190_?)del
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NC_000006.11:g.(?_74331507)_(74331705_?)del
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NC_000006.11:g.(?_74345095)_(74345233_?)del
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NC_000006.11:g.(?_74345095)_(74346440_?)del
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NC_000006.11:g.(?_74363496)_(74363609_?)del
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NC_000006.12:g.(?_73641681)_(73644613_?)del
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NC_000006.12:g.(?_73644397)_(73644613_?)del
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NC_000007.13:g.(?_107412489)_(107559714_?)del
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NC_000007.13:g.(?_107556049)_(107558012_?)del
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NC_000007.13:g.(?_44102363)_(44105128_?)del
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NC_000007.14:g.(?_107901728)_(107906378_?)del
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NC_000007.14:g.(?_65960877)_(66092932_?)del
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NC_000007.14:g.(?_65967711)_(65970386_?)del
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NC_000007.14:g.(?_65970262)_(65970386_?)del
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NC_000007.14:g.(?_65974275)_(65982203_?)del
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NC_000007.14:g.65974442del
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NC_000008.10:g.(?_42977230)_(43002226_?)del
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NC_000008.10:g.(?_43002071)_(43033397_?)del
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NC_000008.10:g.(?_43024296)_(43024405_?)del
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NC_000008.11:g.(?_43140497)_(43161507_?)del
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NC_000008.11:g.(?_43169153)_(43178254_?)del
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NC_000008.11:g.(?_43196928)_(43197972_?)del
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NC_000009.11:g.(?_104124710)_(104500261_?)del
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NC_000009.11:g.(?_104188817)_(104193189_?)del
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NC_000009.11:g.(?_104188827)_(104193169_?)del
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NC_000009.11:g.(?_139089171)_(141016451_?)del
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NC_000009.11:g.(?_139981452)_(139983477_?)del
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NC_000009.11:g.(?_34646573)_(34650446_?)del
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NC_000009.11:g.(?_34646579)_(34655067_?)del
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NC_000009.12:g.(?_101424833)_(101437751_?)del
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NC_000009.12:g.(?_101426493)_(101437751_?)del
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NC_000009.12:g.(?_34645559)_(34648914_?)del
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NC_000009.12:g.(?_34645559)_(34649574_?)del
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NC_000009.12:g.(?_34645559)_(34651238_?)del
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NC_000009.12:g.(?_34646586)_(34651238_?)del
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NC_000009.12:g.(?_34646609)_(34650459_?)del
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NC_000009.12:g.(?_94639121)_(94639330_?)del
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NC_000011.10:g.(?_119024900)_(119029379_?)del
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NC_000011.10:g.(?_119028174)_(119029389_?)del
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NC_000011.10:g.(?_64750356)_(64750603_?)del
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NC_000011.10:g.(?_64750366)_(64750593_?)del
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NC_000011.10:g.(?_64758226)_(64758724_?)del
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NC_000011.9:g.(?_118899922)_(118900089_?)del
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NC_000011.9:g.(?_64514121)_(64518065_?)del
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NC_000011.9:g.(?_64517838)_(64522318_?)del
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NC_000011.9:g.(?_64522783)_(66283694_?)del
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NC_000011.9:g.(?_64525241)_(64527380_?)del
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NC_000011.9:g.(?_66618135)_(66639640_?)del
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NC_000012.12:g.(?_64739371)_(64747928_?)del
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NC_000014.8:g.(?_51372090)_(51411141_?)del
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NC_000014.8:g.(?_97299809)_(97327092_?)del
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NC_000014.8:g.(?_97319158)_(97322933_?)del
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NC_000014.8:g.(?_97326874)_(97327092_?)del
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NC_000014.9:g.(?_50909875)_(50912323_?)del
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NC_000014.9:g.(?_96810669)_(96860745_?)del
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NC_000014.9:g.(?_96846075)_(96847364_?)del
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NC_000014.9:g.(?_96846085)_(96847354_?)del
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NC_000014.9:g.(?_96856120)_(96860745_?)del
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NC_000016.10:g.(?_47669195)_(47669437_?)del
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NC_000016.10:g.(?_87888109)_(87891974_?)del
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NC_000016.10:g.(?_87904766)_(87904924_?)del
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NC_000016.10:g.(?_88814419)_(88856897_?)del
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NC_000016.10:g.(?_88822569)_(88842849_?)del
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NC_000016.10:g.(?_88826682)_(88826858_?)del
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NC_000016.10:g.(?_88837602)_(88842849_?)del
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NC_000016.10:g.(?_88840972)_(88842849_?)del
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NC_000016.10:g.(?_88856738)_(88856897_?)del
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NC_000016.10:g.47499755GTCAA[1]
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|
NC_000016.10:g.88832102del
|
rs2142999219
|
|
NC_000016.10:g.88856801_88856960del
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NC_000016.9:g.(?_47495262)_(47644851_?)del
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NC_000016.9:g.(?_47531290)_(47581479_?)del
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NC_000016.9:g.(?_47545556)_(47581479_?)del
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NC_000016.9:g.(?_47614186)_(47644851_?)del
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NC_000016.9:g.(?_87636753)_(88505740_?)del
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NC_000016.9:g.(?_87938372)_(87960571_?)del
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NC_000016.9:g.(?_87960334)_(87970056_?)del
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NC_000016.9:g.(?_88923146)_(88923285_?)del
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NC_000017.10:g.(?_40688281)_(40693234_?)del
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NC_000017.10:g.(?_40689396)_(40690793_?)del
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NC_000017.10:g.(?_40690337)_(40690793_?)del
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NC_000017.10:g.(?_40690347)_(40690783_?)del
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NC_000017.10:g.(?_41052894)_(41056246_?)del
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NC_000017.10:g.(?_41052894)_(41059665_?)del
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NC_000017.10:g.(?_41052894)_(41063443_?)del
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NC_000017.10:g.(?_41055928)_(41056246_?)del
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NC_000017.10:g.(?_41055938)_(41063453_?)del
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|
NC_000017.10:g.(?_41059530)_(41059655_?)del
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|
|
NC_000017.10:g.(?_73753076)_(73754632_?)del
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|
NC_000017.10:g.(?_73754127)_(73754690_?)del
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|
NC_000017.10:g.(?_73754127)_(73761239_?)del
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|
NC_000017.10:g.(?_73758775)_(73761239_?)del
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|
NC_000017.10:g.(?_73759968)_(73761239_?)del
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|
|
NC_000017.10:g.(?_78082486)_(78087175_?)del
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|
NC_000017.10:g.(?_78084516)_(78084834_?)del
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NC_000017.10:g.(?_78085283)_(78092476_?)del
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NC_000017.10:g.(?_78090757)_(78092614_?)del
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NC_000017.10:g.(?_78091652)_78092189del
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NC_000017.10:g.(?_78091972)_(78092176_?)del
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|
NC_000017.10:g.(?_78188510)_(78190896_?)del
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NC_000017.10:g.(?_78194005)_(78194112_?)del
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|
NC_000017.10:g.(?_78194005)_(78194132_?)del
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NC_000017.11:g.(?_42900800)_(42904229_?)del
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NC_000017.11:g.(?_80104542)_(80105914_?)del
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|
|
NC_000017.11:g.(?_80108677)_(80113386_?)del
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|
NC_000017.11:g.(?_80109935)_(80113376_?)del
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|
NC_000017.11:g.(?_80118183)_(80118367_?)del
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NC_000017.11:g.(?_80118193)_(80118357_?)del
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|
NC_000017.11:g.(?_80213794)_(80215148_?)del
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|
NC_000019.10:g.(?_12656561)_(12661386_?)del
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|
|
NC_000019.9:g.(?_12757424)_(12769334_?)del
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|
NC_000019.9:g.(?_12757434)_(12761056_?)del
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|
|
NC_000019.9:g.(?_12757434)_(12780217_?)del
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|
|
NC_000019.9:g.(?_12768857)_(12780217_?)del
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|
NC_000019.9:g.(?_12768867)_(12769334_?)del
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|
NC_000019.9:g.(?_12774121)_(12774659_?)del
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|
NC_000019.9:g.(?_12775596)_(12777525_?)del
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|
|
NC_000019.9:g.(?_49477450)_(49478010_?)del
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NC_000019.9:g.(?_49485502)_(49486104_?)del
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|
NC_000021.8:g.(?_38132018)_(38362704_?)del
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|
|
NC_000021.8:g.(?_38269140)_(38269451_?)del
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|
NC_000021.8:g.(?_38269140)_(38311203_?)del
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NC_000021.8:g.(?_38269150)_(38269441_?)del
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|
|
NC_000021.8:g.(?_38302541)_(38311304_?)del
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|
|
NC_000021.9:g.(?_36765002)_(36767295_?)del
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|
|
NC_000021.9:g.(?_36938822)_(36939004_?)del
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|
|
NC_000022.10:g.(?_42456283)_(42463314_?)del
|
|
|
NC_000022.10:g.(?_42461722)_(42464598_?)del
|
|
|
NC_000023.10:g.(?_119565168)_(119603034_?)del
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|
|
NC_000023.10:g.(?_119565178)_(119576537_?)del
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|
|
NC_000023.10:g.(?_119602941)_(119603024_?)del
|
|
|
NC_000023.10:g.(?_148564257)_(148586687_?)del
|
|
|
NC_000023.10:g.(?_148564267)_(148586894_?)del
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|
|
NC_000023.10:g.(?_148564277)_(148564769_?)del
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|
|
NC_000023.10:g.(?_148564277)_(148586667_?)del
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|
|
NC_000023.10:g.(?_148571835)_(148582578_?)del
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|
|
NC_000023.10:g.(?_148577857)_(148579858_?)del
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|
|
NC_000023.10:g.(?_148578704)_(148586687_?)del
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|
|
NC_000023.10:g.(?_148579618)_(148586687_?)del
|
|
|
NC_000023.10:g.(?_152014869)_(154563736_?)del
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|
|
NC_000023.10:g.(?_18660114)_(19377781_?)del
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|
|
NC_000023.10:g.(?_18925998)_(18929098_?)del
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|
|
NC_000023.11:g.(?_120428464)_(120469189_?)del
|
|
|
NC_000023.11:g.(?_120431313)_(120470223_?)del
|
|
|
NC_000023.11:g.(?_120441710)_(120449148_?)del
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|
|
NC_000023.11:g.(?_18920012)_(18920221_?)del
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|
|
NC_000023.11:g.(?_18929208)_(18983952_?)del
|
|
|
NC_000023.11:g.(?_72644342)_(72676170_?)del
|
|
|
NM_000027.4(AGA):c.101_107del (p.Trp34fs)
|
rs759063638
|
|
NM_000027.4(AGA):c.128-2A>G
|
rs2111022003
|
|
NM_000027.4(AGA):c.172G>T (p.Glu58Ter)
|
|
|
NM_000027.4(AGA):c.187dup (p.Met63fs)
|
rs2111021738
|
|
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.210del (p.Asp70fs)
|
rs1736955435
|
|
NM_000027.4(AGA):c.214T>C (p.Ser72Pro)
|
rs121964909
|
|
NM_000027.4(AGA):c.268dup (p.Met90fs)
|
rs2111021475
|
|
NM_000027.4(AGA):c.302C>T (p.Ala101Val)
|
rs121964908
|
|
NM_000027.4(AGA):c.329del (p.Asn110fs)
|
rs764357395
|
|
NM_000027.4(AGA):c.333del (p.Ile112fs)
|
rs1057517223
|
|
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.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.389_390del (p.Glu130fs)
|
|
|
NM_000027.4(AGA):c.3G>C (p.Met1Ile)
|
rs937973897
|
|
NM_000027.4(AGA):c.454C>T (p.Gln152Ter)
|
rs991950983
|
|
NM_000027.4(AGA):c.509dup (p.Asn170fs)
|
rs2111015936
|
|
NM_000027.4(AGA):c.519dup (p.Asp174fs)
|
rs2111015862
|
|
NM_000027.4(AGA):c.52C>T (p.Gln18Ter)
|
|
|
NM_000027.4(AGA):c.537C>A (p.Cys179Ter)
|
rs748171793
|
|
NM_000027.4(AGA):c.555_558del (p.Gly186fs)
|
rs1736861131
|
|
NM_000027.4(AGA):c.55del (p.Ala19fs)
|
|
|
NM_000027.4(AGA):c.595G>T (p.Glu199Ter)
|
rs370078048
|
|
NM_000027.4(AGA):c.665del (p.Thr222fs)
|
|
|
NM_000027.4(AGA):c.698+1del
|
rs2111013273
|
|
NM_000027.4(AGA):c.797dup (p.Leu267fs)
|
|
|
NM_000027.4(AGA):c.859C>T (p.Gln287Ter)
|
rs1736687730
|
|
NM_000027.4(AGA):c.864del (p.Lys288_Val289insTer)
|
|
|
NM_000027.4(AGA):c.940+1G>A
|
rs386833437
|
|
NM_000027.4(AGA):c.9del (p.Lys4fs)
|
|
|
NM_000035.4(ALDOB):c.1005C>G (p.Asn335Lys)
|
rs78340951
|
|
NM_000035.4(ALDOB):c.10C>T (p.Arg4Ter)
|
rs118204428
|
|
NM_000035.4(ALDOB):c.113-1_115del
|
rs786204598
|
|
NM_000035.4(ALDOB):c.136del (p.Arg46fs)
|
|
|
NM_000035.4(ALDOB):c.149_155dup (p.Glu53fs)
|
rs2118362726
|
|
NM_000035.4(ALDOB):c.227dup (p.Val77fs)
|
rs2118362340
|
|
NM_000035.4(ALDOB):c.235del (p.Leu79fs)
|
|
|
NM_000035.4(ALDOB):c.250del (p.Leu84fs)
|
rs1831190354
|
|
NM_000035.4(ALDOB):c.255C>G (p.Tyr85Ter)
|
rs761063847
|
|
NM_000035.4(ALDOB):c.271G>T (p.Gly91Ter)
|
|
|
NM_000035.4(ALDOB):c.302del (p.Lys101fs)
|
rs974582114
|
|
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>T
|
rs1402966846
|
|
NM_000035.4(ALDOB):c.331C>T (p.Gln111Ter)
|
rs528914024
|
|
NM_000035.4(ALDOB):c.34C>T (p.Gln12Ter)
|
rs190631679
|
|
NM_000035.4(ALDOB):c.360_363del (p.Asn120fs)
|
rs387906225
|
|
NM_000035.4(ALDOB):c.360del (p.Asn120fs)
|
rs2118358565
|
|
NM_000035.4(ALDOB):c.414C>A (p.Tyr138Ter)
|
|
|
NM_000035.4(ALDOB):c.427del (p.Val143fs)
|
rs2118355498
|
|
NM_000035.4(ALDOB):c.43del (p.Glu15fs)
|
rs1831209087
|
|
NM_000035.4(ALDOB):c.444G>A (p.Trp148Ter)
|
rs1057516902
|
|
NM_000035.4(ALDOB):c.469C>T (p.Gln157Ter)
|
rs1831149748
|
|
NM_000035.4(ALDOB):c.522C>G (p.Tyr174Ter)
|
rs752902486
|
|
NM_000035.4(ALDOB):c.539del (p.Gln180fs)
|
|
|
NM_000035.4(ALDOB):c.607C>T (p.Gln203Ter)
|
rs868392830
|
|
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.642C>A (p.Tyr214Ter)
|
|
|
NM_000035.4(ALDOB):c.673del (p.Glu225fs)
|
rs758133069
|
|
NM_000035.4(ALDOB):c.742C>T (p.Gln248Ter)
|
|
|
NM_000035.4(ALDOB):c.761dup (p.Thr255fs)
|
rs2118345550
|
|
NM_000035.4(ALDOB):c.770T>C (p.Leu257Pro)
|
rs764701775
|
|
NM_000035.4(ALDOB):c.841_842del (p.Thr281fs)
|
rs2118342944
|
|
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.949_950insCAGGGCCCGTGCACTGGCTGCCTGGGGTGGCA (p.Lys317fs)
|
|
|
NM_000035.4(ALDOB):c.964G>T (p.Glu322Ter)
|
rs1172384674
|
|
NM_000035.4(ALDOB):c.999+2T>C
|
|
|
NM_000046.5(ARSB):c.1036G>T (p.Glu346Ter)
|
rs1747989303
|
|
NM_000046.5(ARSB):c.103_118del (p.Pro35fs)
|
rs2112583121
|
|
NM_000046.5(ARSB):c.1060_1061del (p.Leu354fs)
|
|
|
NM_000046.5(ARSB):c.108_120del (p.Ser37fs)
|
rs1028653411
|
|
NM_000046.5(ARSB):c.1130G>A (p.Trp377Ter)
|
rs1554079265
|
|
NM_000046.5(ARSB):c.113del (p.Gly38fs)
|
rs1349838988
|
|
NM_000046.5(ARSB):c.1142+2T>A
|
rs781510986
|
|
NM_000046.5(ARSB):c.1143-1G>T
|
|
|
NM_000046.5(ARSB):c.1143-8T>G
|
rs431905496
|
|
NM_000046.5(ARSB):c.1178A>G (p.His393Arg)
|
rs118203944
|
|
NM_000046.5(ARSB):c.118_134del (p.Gly40fs)
|
rs398123123
|
|
NM_000046.5(ARSB):c.1197C>G (p.Phe399Leu)
|
rs200793396
|
|
NM_000046.5(ARSB):c.1208C>G (p.Ser403Ter)
|
rs771296632
|
|
NM_000046.5(ARSB):c.1213+6T>C
|
rs1554074118
|
|
NM_000046.5(ARSB):c.121dup (p.Ala41fs)
|
rs1561197865
|
|
NM_000046.5(ARSB):c.123_139dup (p.Leu47fs)
|
rs766772376
|
|
NM_000046.5(ARSB):c.1299dup (p.Arg434Ter)
|
rs1355071930
|
|
NM_000046.5(ARSB):c.1314G>A (p.Trp438Ter)
|
|
|
NM_000046.5(ARSB):c.1325C>G (p.Thr442Arg)
|
|
|
NM_000046.5(ARSB):c.1325C>T (p.Thr442Met)
|
rs1057520739
|
|
NM_000046.5(ARSB):c.1336+2T>C
|
rs768012515
|
|
NM_000046.5(ARSB):c.1340G>T (p.Cys447Phe)
|
rs1465993279
|
|
NM_000046.5(ARSB):c.1418G>A (p.Trp473Ter)
|
|
|
NM_000046.5(ARSB):c.1433del (p.Asp478fs)
|
|
|
NM_000046.5(ARSB):c.1507C>T (p.Gln503Ter)
|
rs771113472
|
|
NM_000046.5(ARSB):c.1521dup (p.His508fs)
|
|
|
NM_000046.5(ARSB):c.1533del (p.Val512fs)
|
|
|
NM_000046.5(ARSB):c.1534_1556del (p.Val512fs)
|
rs1310996698
|
|
NM_000046.5(ARSB):c.1539C>A (p.Tyr513Ter)
|
|
|
NM_000046.5(ARSB):c.1558del (p.Arg520fs)
|
rs1160897474
|
|
NM_000046.5(ARSB):c.1562G>A (p.Cys521Tyr)
|
rs1554069661
|
|
NM_000046.5(ARSB):c.1577del (p.Thr526fs)
|
rs1554069660
|
|
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.170G>A (p.Trp57Ter)
|
rs200712296
|
|
NM_000046.5(ARSB):c.173del (p.Asn58fs)
|
rs1180759765
|
|
NM_000046.5(ARSB):c.17_21dup (p.Ser8fs)
|
|
|
NM_000046.5(ARSB):c.223del (p.Leu75fs)
|
|
|
NM_000046.5(ARSB):c.237_243del (p.Val80fs)
|
rs1554032134
|
|
NM_000046.5(ARSB):c.245T>G (p.Leu82Arg)
|
rs749465732
|
|
NM_000046.5(ARSB):c.255C>G (p.Tyr85Ter)
|
|
|
NM_000046.5(ARSB):c.275C>A (p.Thr92Lys)
|
rs751010538
|
|
NM_000046.5(ARSB):c.289C>T (p.Gln97Ter)
|
rs1554032094
|
|
NM_000046.5(ARSB):c.310C>T (p.Gln104Ter)
|
rs1753093650
|
|
NM_000046.5(ARSB):c.31C>T (p.Arg11Ter)
|
|
|
NM_000046.5(ARSB):c.323G>T (p.Gly108Val)
|
rs768802200
|
|
NM_000046.5(ARSB):c.352_365dup (p.Pro123fs)
|
|
|
NM_000046.5(ARSB):c.359dup (p.Ser120fs)
|
|
|
NM_000046.5(ARSB):c.376G>T (p.Glu126Ter)
|
|
|
NM_000046.5(ARSB):c.385del (p.Leu129fs)
|
rs1752338387
|
|
NM_000046.5(ARSB):c.403G>T (p.Glu135Ter)
|
|
|
NM_000046.5(ARSB):c.427del (p.Val143fs)
|
rs766914147
|
|
NM_000046.5(ARSB):c.430G>C (p.Gly144Arg)
|
rs746206847
|
|
NM_000046.5(ARSB):c.438G>A (p.Trp146Ter)
|
rs757061042
|
|
NM_000046.5(ARSB):c.468del (p.Pro157fs)
|
rs2112529559
|
|
NM_000046.5(ARSB):c.479G>A (p.Arg160Gln)
|
rs1196325597
|
|
NM_000046.5(ARSB):c.54del (p.Leu19fs)
|
|
|
NM_000046.5(ARSB):c.551T>C (p.Ile184Thr)
|
|
|
NM_000046.5(ARSB):c.574T>C (p.Cys192Arg)
|
rs1554087423
|
|
NM_000046.5(ARSB):c.589C>T (p.Arg197Ter)
|
rs773460207
|
|
NM_000046.5(ARSB):c.64dup (p.Val22fs)
|
rs2112583680
|
|
NM_000046.5(ARSB):c.680del (p.Pro227fs)
|
|
|
NM_000046.5(ARSB):c.707T>C (p.Leu236Pro)
|
rs118203940
|
|
NM_000046.5(ARSB):c.715C>T (p.Gln239Ter)
|
|
|
NM_000046.5(ARSB):c.745G>T (p.Glu249Ter)
|
|
|
NM_000046.5(ARSB):c.753C>G (p.Tyr251Ter)
|
rs765711776
|
|
NM_000046.5(ARSB):c.765T>A (p.Tyr255Ter)
|
rs1554086414
|
|
NM_000046.5(ARSB):c.797A>C (p.Tyr266Ser)
|
rs1554086402
|
|
NM_000046.5(ARSB):c.823G>T (p.Glu275Ter)
|
rs1580121683
|
|
NM_000046.5(ARSB):c.866_867insTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGCAGTGGGCT (p.Leu289_Trp290insGlyArgProArgArgAlaAspHisGluValLysArgSerArgProSerArgLeuLysArgTer)
|
rs2112483439
|
|
NM_000046.5(ARSB):c.904G>A (p.Gly302Arg)
|
rs779378413
|
|
NM_000046.5(ARSB):c.908G>A (p.Gly303Glu)
|
rs1408739927
|
|
NM_000046.5(ARSB):c.916_917del (p.Leu306fs)
|
|
|
NM_000046.5(ARSB):c.923G>A (p.Gly308Glu)
|
rs1554079333
|
|
NM_000046.5(ARSB):c.937C>T (p.Pro313Ser)
|
rs749989641
|
|
NM_000046.5(ARSB):c.943C>T (p.Arg315Ter)
|
rs891298440
|
|
NM_000046.5(ARSB):c.956G>A (p.Trp319Ter)
|
|
|
NM_000046.5(ARSB):c.960C>G (p.Ser320Arg)
|
rs762614315
|
|
NM_000046.5(ARSB):c.966G>A (p.Trp322Ter)
|
rs1554079318
|
|
NM_000046.5(ARSB):c.979C>T (p.Arg327Ter)
|
rs773492223
|
|
NM_000108.5(DLD):c.104del (p.Tyr35fs)
|
|
|
NM_000108.5(DLD):c.1058T>C (p.Ile353Thr)
|
rs2116271469
|
|
NM_000108.5(DLD):c.105C>A (p.Tyr35Ter)
|
|
|
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.1116_1117del (p.Ile372fs)
|
|
|
NM_000108.5(DLD):c.112C>T (p.Gln38Ter)
|
rs1057516698
|
|
NM_000108.5(DLD):c.1139del (p.Gly380fs)
|
|
|
NM_000108.5(DLD):c.1158C>G (p.Tyr386Ter)
|
|
|
NM_000108.5(DLD):c.1182C>G (p.Tyr394Ter)
|
rs757087726
|
|
NM_000108.5(DLD):c.1214C>A (p.Ser405Ter)
|
|
|
NM_000108.5(DLD):c.1232_1233del (p.Glu411fs)
|
|
|
NM_000108.5(DLD):c.1245_1249del (p.Tyr416fs)
|
rs2116273912
|
|
NM_000108.5(DLD):c.12G>A (p.Trp4Ter)
|
rs1562908173
|
|
NM_000108.5(DLD):c.1344_1347del (p.Asp448fs)
|
rs1402761530
|
|
NM_000108.5(DLD):c.1396G>T (p.Glu466Ter)
|
rs2116277809
|
|
NM_000108.5(DLD):c.140T>C (p.Ile47Thr)
|
rs397514651
|
|
NM_000108.5(DLD):c.1416_1422del (p.Tyr473fs)
|
rs1214130226
|
|
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.1464+1G>A
|
|
|
NM_000108.5(DLD):c.175A>T (p.Lys59Ter)
|
|
|
NM_000108.5(DLD):c.24C>G (p.Tyr8Ter)
|
rs778122189
|
|
NM_000108.5(DLD):c.285_286del (p.His96fs)
|
|
|
NM_000108.5(DLD):c.308_310delinsT (p.Gly103fs)
|
rs2031929480
|
|
NM_000108.5(DLD):c.362del (p.Asp121fs)
|
rs2116219533
|
|
NM_000108.5(DLD):c.380del (p.Lys127fs)
|
|
|
NM_000108.5(DLD):c.3G>A (p.Met1Ile)
|
|
|
NM_000108.5(DLD):c.459T>G (p.Tyr153Ter)
|
rs2116221384
|
|
NM_000108.5(DLD):c.529A>T (p.Lys177Ter)
|
|
|
NM_000108.5(DLD):c.633dup (p.Val212fs)
|
rs1040811473
|
|
NM_000108.5(DLD):c.647del (p.Met216fs)
|
|
|
NM_000108.5(DLD):c.783del (p.Gln262fs)
|
rs1562919685
|
|
NM_000108.5(DLD):c.813del (p.Lys271fs)
|
|
|
NM_000108.5(DLD):c.821dup (p.Leu274fs)
|
rs751883130
|
|
NM_000108.5(DLD):c.82dup (p.Ser28fs)
|
|
|
NM_000108.5(DLD):c.854C>G (p.Ser285Ter)
|
|
|
NM_000108.5(DLD):c.987dup (p.Glu330Ter)
|
|
|
NM_000108.5(DLD):c.988G>T (p.Glu330Ter)
|
|
|
NM_000147.5(FUCA1):c.1054C>T (p.Gln352Ter)
|
|
|
NM_000147.5(FUCA1):c.1057G>T (p.Glu353Ter)
|
|
|
NM_000147.5(FUCA1):c.1082G>A (p.Trp361Ter)
|
rs864309551
|
|
NM_000147.5(FUCA1):c.1125G>A (p.Trp375Ter)
|
rs794727774
|
|
NM_000147.5(FUCA1):c.1131_1132delinsTT (p.Gln378Ter)
|
|
|
NM_000147.5(FUCA1):c.1138G>T (p.Glu380Ter)
|
rs80358195
|
|
NM_000147.5(FUCA1):c.1206G>A (p.Trp402Ter)
|
|
|
NM_000147.5(FUCA1):c.1216G>T (p.Gly406Ter)
|
rs764863416
|
|
NM_000147.5(FUCA1):c.1260+2T>A
|
|
|
NM_000147.5(FUCA1):c.1285_1286insT (p.Asp429fs)
|
rs1186488065
|
|
NM_000147.5(FUCA1):c.1289_1301del (p.Leu430fs)
|
|
|
NM_000147.5(FUCA1):c.167_170dup (p.Lys57fs)
|
|
|
NM_000147.5(FUCA1):c.194G>A (p.Gly65Asp)
|
|
|
NM_000147.5(FUCA1):c.215G>A (p.Trp72Ter)
|
rs1639662981
|
|
NM_000147.5(FUCA1):c.23C>A (p.Ser8Ter)
|
|
|
NM_000147.5(FUCA1):c.291C>G (p.Tyr97Ter)
|
|
|
NM_000147.5(FUCA1):c.293dup (p.Pro99fs)
|
|
|
NM_000147.5(FUCA1):c.355_364del (p.Glu119fs)
|
|
|
NM_000147.5(FUCA1):c.393T>A (p.Tyr131Ter)
|
rs781230182
|
|
NM_000147.5(FUCA1):c.459G>A (p.Trp153Ter)
|
|
|
NM_000147.5(FUCA1):c.460_475del (p.Asn154fs)
|
|
|
NM_000147.5(FUCA1):c.557T>A (p.Leu186Ter)
|
|
|
NM_000147.5(FUCA1):c.563G>A (p.Trp188Ter)
|
|
|
NM_000147.5(FUCA1):c.607del (p.Thr203fs)
|
|
|
NM_000147.5(FUCA1):c.610_614del (p.Gln204fs)
|
|
|
NM_000147.5(FUCA1):c.661del (p.Ser221fs)
|
|
|
NM_000147.5(FUCA1):c.671del (p.Pro224fs)
|
rs2148446020
|
|
NM_000147.5(FUCA1):c.679_683del (p.Ile227fs)
|
|
|
NM_000147.5(FUCA1):c.679_683dup (p.Trp228Ter)
|
|
|
NM_000147.5(FUCA1):c.698G>A (p.Trp233Ter)
|
|
|
NM_000147.5(FUCA1):c.699G>A (p.Trp233Ter)
|
|
|
NM_000147.5(FUCA1):c.7del (p.Ala3fs)
|
rs1639669672
|
|
NM_000147.5(FUCA1):c.80C>A (p.Ser27Ter)
|
|
|
NM_000147.5(FUCA1):c.810del (p.Cys271fs)
|
rs1557510081
|
|
NM_000147.5(FUCA1):c.952G>T (p.Glu318Ter)
|
rs201499886
|
|
NM_000147.5(FUCA1):c.969+1G>T
|
|
|
NM_000151.4(G6PC1):c.1004del (p.Leu335fs)
|
|
|
NM_000151.4(G6PC1):c.1012G>T (p.Val338Phe)
|
rs367727229
|
|
NM_000151.4(G6PC1):c.1018_1026del (p.Val340_Pro342del)
|
rs1200748845
|
|
NM_000151.4(G6PC1):c.132C>G (p.Tyr44Ter)
|
|
|
NM_000151.4(G6PC1):c.136del (p.Leu46fs)
|
rs1057517227
|
|
NM_000151.4(G6PC1):c.150_151del (p.Trp50fs)
|
rs1057516674
|
|
NM_000151.4(G6PC1):c.160_224dup (p.Phe75_Lys76insArgLysLeuTrpAlaLeuAsnSerPheGlyTer)
|
rs2151929143
|
|
NM_000151.4(G6PC1):c.228G>C (p.Lys76Asn)
|
rs2056023296
|
|
NM_000151.4(G6PC1):c.229T>C (p.Trp77Arg)
|
rs104894566
|
|
NM_000151.4(G6PC1):c.230+1G>C
|
rs863224023
|
|
NM_000151.4(G6PC1):c.230+1G>T
|
|
|
NM_000151.4(G6PC1):c.231G>A (p.Trp77Ter)
|
|
|
NM_000151.4(G6PC1):c.238T>A (p.Phe80Ile)
|
|
|
NM_000151.4(G6PC1):c.255C>A (p.Tyr85Ter)
|
rs748363083
|
|
NM_000151.4(G6PC1):c.258G>A (p.Trp86Ter)
|
rs142917638
|
|
NM_000151.4(G6PC1):c.261G>A (p.Trp87Ter)
|
|
|
NM_000151.4(G6PC1):c.262del (p.Val88fs)
|
rs755612674
|
|
NM_000151.4(G6PC1):c.267_268delinsC (p.Leu89fs)
|
|
|
NM_000151.4(G6PC1):c.279C>A (p.Tyr93Ter)
|
|
|
NM_000151.4(G6PC1):c.302del (p.Leu101fs)
|
rs2151930031
|
|
NM_000151.4(G6PC1):c.310C>T (p.Gln104Ter)
|
rs2056043532
|
|
NM_000151.4(G6PC1):c.323C>T (p.Thr108Ile)
|
rs1597988331
|
|
NM_000151.4(G6PC1):c.324del (p.Cys109fs)
|
rs2151930039
|
|
NM_000151.4(G6PC1):c.325T>C (p.Cys109Arg)
|
|
|
NM_000151.4(G6PC1):c.341-7_356del
|
|
|
NM_000151.4(G6PC1):c.352G>A (p.Gly118Ser)
|
rs761007323
|
|
NM_000151.4(G6PC1):c.356A>T (p.His119Leu)
|
rs1401928680
|
|
NM_000151.4(G6PC1):c.379_380dup (p.Tyr128fs)
|
rs80356488
|
|
NM_000151.4(G6PC1):c.384C>G (p.Tyr128Ter)
|
rs764401169
|
|
NM_000151.4(G6PC1):c.388_389delinsTA (p.Met130Ter)
|
rs2056069710
|
|
NM_000151.4(G6PC1):c.403_404del (p.Leu135fs)
|
rs2151931178
|
|
NM_000151.4(G6PC1):c.450del (p.Cys150_Leu151insTer)
|
rs2151931733
|
|
NM_000151.4(G6PC1):c.462_466del (p.Ile154fs)
|
|
|
NM_000151.4(G6PC1):c.467G>T (p.Trp156Leu)
|
rs1189630738
|
|
NM_000151.4(G6PC1):c.480G>A (p.Trp160Ter)
|
|
|
NM_000151.4(G6PC1):c.497T>G (p.Val166Gly)
|
rs104894571
|
|
NM_000151.4(G6PC1):c.503_506dup (p.Arg170fs)
|
rs2151931748
|
|
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.549dup (p.Gly184fs)
|
rs2151931799
|
|
NM_000151.4(G6PC1):c.54C>A (p.Tyr18Ter)
|
rs1414234636
|
|
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.626A>G (p.Tyr209Cys)
|
rs2056091436
|
|
NM_000151.4(G6PC1):c.662dup (p.Gly222fs)
|
|
|
NM_000151.4(G6PC1):c.664G>A (p.Gly222Arg)
|
rs1410392732
|
|
NM_000151.4(G6PC1):c.69C>G (p.Tyr23Ter)
|
|
|
NM_000151.4(G6PC1):c.706T>A (p.Trp236Arg)
|
rs2056092151
|
|
NM_000151.4(G6PC1):c.708G>A (p.Trp236Ter)
|
rs2151932291
|
|
NM_000151.4(G6PC1):c.732G>A (p.Trp244Ter)
|
|
|
NM_000151.4(G6PC1):c.735C>A (p.Cys245Ter)
|
|
|
NM_000151.4(G6PC1):c.750G>A (p.Trp250Ter)
|
rs140869027
|
|
NM_000151.4(G6PC1):c.788del (p.Lys263fs)
|
|
|
NM_000151.4(G6PC1):c.792C>A (p.Asn264Lys)
|
rs1555560149
|
|
NM_000151.4(G6PC1):c.79C>T (p.Gln27Ter)
|
rs1057516367
|
|
NM_000151.4(G6PC1):c.79del (p.Gln27fs)
|
rs80356479
|
|
NM_000151.4(G6PC1):c.826_830del (p.Asn276fs)
|
|
|
NM_000151.4(G6PC1):c.858del (p.Lys287fs)
|
rs1057516858
|
|
NM_000151.4(G6PC1):c.964T>G (p.Phe322Val)
|
rs1567706564
|
|
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.-32-385_143del
|
|
|
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.1004G>A (p.Gly335Glu)
|
rs730880022
|
|
NM_000152.5(GAA):c.1030_1031del (p.Gly344fs)
|
rs1567829962
|
|
NM_000152.5(GAA):c.1051del (p.Val351fs)
|
rs786204507
|
|
NM_000152.5(GAA):c.1054C>T (p.Gln352Ter)
|
|
|
NM_000152.5(GAA):c.1062C>A (p.Tyr354Ter)
|
rs1064796703
|
|
NM_000152.5(GAA):c.1075G>A (p.Gly359Arg)
|
|
|
NM_000152.5(GAA):c.1075G>T (p.Gly359Ter)
|
rs1064794288
|
|
NM_000152.5(GAA):c.1082dup (p.Phe362fs)
|
rs2143854537
|
|
NM_000152.5(GAA):c.1091del (p.Pro364fs)
|
rs2143854659
|
|
NM_000152.5(GAA):c.1099T>C (p.Trp367Arg)
|
rs1555600061
|
|
NM_000152.5(GAA):c.1100G>A (p.Trp367Ter)
|
rs1478500490
|
|
NM_000152.5(GAA):c.1105dup (p.Leu369fs)
|
|
|
NM_000152.5(GAA):c.1115A>T (p.His372Leu)
|
rs1057516520
|
|
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.1134C>A (p.Tyr378Ter)
|
rs1567830317
|
|
NM_000152.5(GAA):c.1143del (p.Ala382fs)
|
rs757458607
|
|
NM_000152.5(GAA):c.1165del (p.Glu389fs)
|
rs1555600111
|
|
NM_000152.5(GAA):c.1192del (p.Leu398fs)
|
rs1057516546
|
|
NM_000152.5(GAA):c.1193del (p.Leu398fs)
|
rs1057517286
|
|
NM_000152.5(GAA):c.1198del (p.Val400fs)
|
|
|
NM_000152.5(GAA):c.1214T>C (p.Leu405Pro)
|
rs2143857207
|
|
NM_000152.5(GAA):c.1219T>C (p.Tyr407His)
|
rs727503939
|
|
NM_000152.5(GAA):c.1225dup (p.Asp409fs)
|
rs2039157751
|
|
NM_000152.5(GAA):c.1241del (p.Phe414fs)
|
|
|
NM_000152.5(GAA):c.1274del (p.Pro425fs)
|
|
|
NM_000152.5(GAA):c.1285C>T (p.Gln429Ter)
|
|
|
NM_000152.5(GAA):c.1293_1312del (p.Gln433fs)
|
|
|
NM_000152.5(GAA):c.1298_1301delinsTCCTGCACCATGGC (p.Gln433fs)
|
rs2143858151
|
|
NM_000152.5(GAA):c.1308del (p.Arg437fs)
|
rs2143858305
|
|
NM_000152.5(GAA):c.1314C>A (p.Tyr438Ter)
|
|
|
NM_000152.5(GAA):c.1336dup (p.Ile446fs)
|
rs2143865725
|
|
NM_000152.5(GAA):c.1347_1365dup (p.Arg456fs)
|
rs2039190879
|
|
NM_000152.5(GAA):c.1356_1365del (p.Ser454fs)
|
|
|
NM_000152.5(GAA):c.1356del (p.Ser454fs)
|
rs2039191420
|
|
NM_000152.5(GAA):c.1364A>G (p.Tyr455Cys)
|
|
|
NM_000152.5(GAA):c.1365del (p.Ser454_Tyr455insTer)
|
|
|
NM_000152.5(GAA):c.1370C>G (p.Pro457Arg)
|
|
|
NM_000152.5(GAA):c.1374_1375delinsTA (p.Asp459Asn)
|
rs2143866239
|
|
NM_000152.5(GAA):c.1375G>A (p.Asp459Asn)
|
rs535644999
|
|
NM_000152.5(GAA):c.1375G>C (p.Asp459His)
|
rs535644999
|
|
NM_000152.5(GAA):c.1376_1377del (p.Asp459fs)
|
rs2143866321
|
|
NM_000152.5(GAA):c.1377dup (p.Glu460fs)
|
rs2039192386
|
|
NM_000152.5(GAA):c.1388_1405del (p.Arg463_Thr469delinsPro)
|
rs2039192921
|
|
NM_000152.5(GAA):c.1396del (p.Val466fs)
|
rs1273392818
|
|
NM_000152.5(GAA):c.1396dup (p.Val466fs)
|
|
|
NM_000152.5(GAA):c.1417_1420del (p.Gly473fs)
|
|
|
NM_000152.5(GAA):c.1426_1429delinsGTTGG (p.Leu476fs)
|
rs2039195145
|
|
NM_000152.5(GAA):c.1431del (p.Ile477fs)
|
rs1598580364
|
|
NM_000152.5(GAA):c.1432G>A (p.Gly478Arg)
|
rs778068209
|
|
NM_000152.5(GAA):c.1437+1G>A
|
rs1555600575
|
|
NM_000152.5(GAA):c.1437+2T>C
|
rs1598580407
|
|
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.1441T>A (p.Trp481Arg)
|
|
|
NM_000152.5(GAA):c.1443G>A (p.Trp481Ter)
|
rs2143871845
|
|
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.1464dup (p.Asp489fs)
|
rs2039213824
|
|
NM_000152.5(GAA):c.1465G>A (p.Asp489Asn)
|
rs398123169
|
|
NM_000152.5(GAA):c.148G>T (p.Glu50Ter)
|
rs1555598609
|
|
NM_000152.5(GAA):c.1496G>A (p.Trp499Ter)
|
rs766680292
|
|
NM_000152.5(GAA):c.1519dup (p.His507fs)
|
rs2039216097
|
|
NM_000152.5(GAA):c.1551+1G>A
|
rs770780848
|
|
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.1557G>A (p.Met519Ile)
|
rs1447365901
|
|
NM_000152.5(GAA):c.1557_1561dup (p.Glu521fs)
|
rs2143874124
|
|
NM_000152.5(GAA):c.1559del (p.Asn520fs)
|
rs2143874154
|
|
NM_000152.5(GAA):c.1560del (p.Asn520fs)
|
|
|
NM_000152.5(GAA):c.1561G>C (p.Glu521Gln)
|
|
|
NM_000152.5(GAA):c.1561del (p.Glu521fs)
|
|
|
NM_000152.5(GAA):c.1562A>T (p.Glu521Val)
|
rs1455277014
|
|
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.156_157del (p.His53fs)
|
|
|
NM_000152.5(GAA):c.1575dup (p.Ile526fs)
|
rs2143874398
|
|
NM_000152.5(GAA):c.1579_1580del (p.Arg527fs)
|
rs1291214871
|
|
NM_000152.5(GAA):c.1579del (p.Arg527fs)
|
rs2039222879
|
|
NM_000152.5(GAA):c.1585T>C (p.Ser529Pro)
|
rs1598582021
|
|
NM_000152.5(GAA):c.1587del (p.Glu530fs)
|
|
|
NM_000152.5(GAA):c.1589del (p.Glu530fs)
|
|
|
NM_000152.5(GAA):c.1637-2A>G
|
rs2143882034
|
|
NM_000152.5(GAA):c.1645G>A (p.Gly549Arg)
|
|
|
NM_000152.5(GAA):c.1650del (p.Thr551fs)
|
rs766398206
|
|
NM_000152.5(GAA):c.1650dup (p.Thr551fs)
|
rs766398206
|
|
NM_000152.5(GAA):c.1651_1656del (p.Thr551_Leu552del)
|
|
|
NM_000152.5(GAA):c.1654del (p.Leu552fs)
|
rs2039246615
|
|
NM_000152.5(GAA):c.1657C>T (p.Gln553Ter)
|
rs1221156663
|
|
NM_000152.5(GAA):c.1669A>T (p.Ile557Phe)
|
rs747150965
|
|
NM_000152.5(GAA):c.1674_1675del (p.Ala559fs)
|
rs2143882664
|
|
NM_000152.5(GAA):c.1687C>T (p.Gln563Ter)
|
rs1057516426
|
|
NM_000152.5(GAA):c.1692del (p.Leu565fs)
|
rs1555601234
|
|
NM_000152.5(GAA):c.1694_1697del (p.Leu565fs)
|
|
|
NM_000152.5(GAA):c.169C>T (p.Gln57Ter)
|
rs1057516251
|
|
NM_000152.5(GAA):c.1703A>T (p.His568Leu)
|
rs2143882997
|
|
NM_000152.5(GAA):c.1704dup (p.Tyr569fs)
|
rs2143883054
|
|
NM_000152.5(GAA):c.1716C>G (p.His572Gln)
|
rs772962666
|
|
NM_000152.5(GAA):c.1748C>T (p.Ser583Phe)
|
rs2143883845
|
|
NM_000152.5(GAA):c.1754+2T>A
|
|
|
NM_000152.5(GAA):c.1754+2T>C
|
|
|
NM_000152.5(GAA):c.1755-1G>A
|
rs2039261208
|
|
NM_000152.5(GAA):c.1761_1765delinsT (p.Val588fs)
|
rs2039261436
|
|
NM_000152.5(GAA):c.1781G>A (p.Arg594His)
|
rs775450536
|
|
NM_000152.5(GAA):c.1802C>A (p.Ser601Ter)
|
rs374470794
|
|
NM_000152.5(GAA):c.1802C>G (p.Ser601Trp)
|
rs374470794
|
|
NM_000152.5(GAA):c.1809del (p.Phe603fs)
|
rs2143888280
|
|
NM_000152.5(GAA):c.1827C>A (p.Tyr609Ter)
|
|
|
NM_000152.5(GAA):c.1827C>G (p.Tyr609Ter)
|
|
|
NM_000152.5(GAA):c.1832G>A (p.Gly611Asp)
|
rs1057517105
|
|
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.1844G>T (p.Gly615Val)
|
rs1243515778
|
|
NM_000152.5(GAA):c.1846G>A (p.Asp616Asn)
|
rs796161389
|
|
NM_000152.5(GAA):c.1846dup (p.Asp616fs)
|
rs1249187013
|
|
NM_000152.5(GAA):c.1847dup (p.Asp616fs)
|
rs1475559733
|
|
NM_000152.5(GAA):c.1853G>A (p.Trp618Ter)
|
|
|
NM_000152.5(GAA):c.1855A>C (p.Ser619Arg)
|
|
|
NM_000152.5(GAA):c.1857C>G (p.Ser619Arg)
|
rs914396317
|
|
NM_000152.5(GAA):c.1880C>T (p.Ser627Phe)
|
rs1024137874
|
|
NM_000152.5(GAA):c.1905C>A (p.Asn635Lys)
|
rs1414146587
|
|
NM_000152.5(GAA):c.1913G>T (p.Gly638Val)
|
rs1294428728
|
|
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.1937del (p.Val646fs)
|
|
|
NM_000152.5(GAA):c.1941C>A (p.Cys647Ter)
|
rs776948121
|
|
NM_000152.5(GAA):c.1950_1952delinsT (p.Gly651fs)
|
|
|
NM_000152.5(GAA):c.1951_1952delinsT (p.Gly651fs)
|
rs1567835781
|
|
NM_000152.5(GAA):c.1975_2000dup (p.Phe667fs)
|
|
|
NM_000152.5(GAA):c.1976_1977del (p.Val659fs)
|
rs2143892473
|
|
NM_000152.5(GAA):c.1978C>T (p.Arg660Cys)
|
rs759518659
|
|
NM_000152.5(GAA):c.1987C>T (p.Gln663Ter)
|
rs2143892654
|
|
NM_000152.5(GAA):c.1987del (p.Gln663fs)
|
rs2143892615
|
|
NM_000152.5(GAA):c.199del (p.Asp67fs)
|
rs2143825870
|
|
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.2004C>A (p.Tyr668Ter)
|
|
|
NM_000152.5(GAA):c.2021ACA[1] (p.Asn675del)
|
rs786204621
|
|
NM_000152.5(GAA):c.2040+1G>C
|
rs1057516928
|
|
NM_000152.5(GAA):c.2040+2T>G
|
|
|
NM_000152.5(GAA):c.2066_2070dup (p.Ala691fs)
|
rs398123171
|
|
NM_000152.5(GAA):c.2074C>T (p.Gln692Ter)
|
rs2039287628
|
|
NM_000152.5(GAA):c.2082del (p.Ala694_Met695insTer)
|
rs2039287852
|
|
NM_000152.5(GAA):c.2095dup (p.Leu699fs)
|
rs2143895928
|
|
NM_000152.5(GAA):c.2096T>C (p.Leu699Pro)
|
|
|
NM_000152.5(GAA):c.2105G>T (p.Arg702Leu)
|
rs398123172
|
|
NM_000152.5(GAA):c.2109C>A (p.Tyr703Ter)
|
rs150728610
|
|
NM_000152.5(GAA):c.2109C>G (p.Tyr703Ter)
|
|
|
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.2167G>A (p.Val723Met)
|
rs767247397
|
|
NM_000152.5(GAA):c.2173del (p.Arg725fs)
|
rs2039292320
|
|
NM_000152.5(GAA):c.2185del (p.Leu729fs)
|
rs1057516581
|
|
NM_000152.5(GAA):c.2188G>T (p.Glu730Ter)
|
rs1555601828
|
|
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.2219_2220del (p.Val740fs)
|
rs2039364779
|
|
NM_000152.5(GAA):c.2227C>T (p.Gln743Ter)
|
rs1057516277
|
|
NM_000152.5(GAA):c.2236T>C (p.Trp746Arg)
|
rs1479740763
|
|
NM_000152.5(GAA):c.2237G>A (p.Trp746Ter)
|
rs752921215
|
|
NM_000152.5(GAA):c.2237G>C (p.Trp746Ser)
|
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.2238G>T (p.Trp746Cys)
|
|
|
NM_000152.5(GAA):c.2242dup (p.Glu748fs)
|
rs777275355
|
|
NM_000152.5(GAA):c.2269C>T (p.Gln757Ter)
|
rs200483245
|
|
NM_000152.5(GAA):c.2281delinsAT (p.Ala761fs)
|
rs1057516924
|
|
NM_000152.5(GAA):c.2284G>T (p.Glu762Ter)
|
rs760063214
|
|
NM_000152.5(GAA):c.2297A>C (p.Tyr766Ser)
|
rs144016984
|
|
NM_000152.5(GAA):c.2300del (p.Phe767fs)
|
rs1555602692
|
|
NM_000152.5(GAA):c.2313_2322del (p.Trp772fs)
|
rs2143920189
|
|
NM_000152.5(GAA):c.2314del (p.Trp772fs)
|
|
|
NM_000152.5(GAA):c.2320dup (p.Asp774fs)
|
|
|
NM_000152.5(GAA):c.2367dup (p.Pro790fs)
|
rs1555602860
|
|
NM_000152.5(GAA):c.236_246del (p.Pro79fs)
|
rs1057517165
|
|
NM_000152.5(GAA):c.2383G>T (p.Glu795Ter)
|
rs886043882
|
|
NM_000152.5(GAA):c.2399G>T (p.Ser800Ile)
|
|
|
NM_000152.5(GAA):c.2408_2426del (p.Gln803fs)
|
rs763048948
|
|
NM_000152.5(GAA):c.241C>T (p.Gln81Ter)
|
rs1555598687
|
|
NM_000152.5(GAA):c.242del (p.Gln81fs)
|
|
|
NM_000152.5(GAA):c.2431dup (p.Leu811fs)
|
rs2143925402
|
|
NM_000152.5(GAA):c.2432del (p.Leu811fs)
|
rs766560578
|
|
NM_000152.5(GAA):c.246C>A (p.Cys82Ter)
|
rs749584846
|
|
NM_000152.5(GAA):c.2470_2471del (p.Ile824fs)
|
rs2143926009
|
|
NM_000152.5(GAA):c.2481+110_2646+39del
|
rs1598592604
|
|
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.2502dup (p.Glu835fs)
|
|
|
NM_000152.5(GAA):c.2554G>T (p.Glu852Ter)
|
|
|
NM_000152.5(GAA):c.2577G>A (p.Trp859Ter)
|
|
|
NM_000152.5(GAA):c.258dup (p.Asn87fs)
|
rs761317813
|
|
NM_000152.5(GAA):c.2619C>G (p.Tyr873Ter)
|
|
|
NM_000152.5(GAA):c.2623C>T (p.Gln875Ter)
|
rs2143930800
|
|
NM_000152.5(GAA):c.2646+1G>A
|
rs2143931061
|
|
NM_000152.5(GAA):c.2646+2T>A
|
rs786204561
|
|
NM_000152.5(GAA):c.2646+2T>G
|
|
|
NM_000152.5(GAA):c.2675_2676dup (p.Thr893Ter)
|
|
|
NM_000152.5(GAA):c.2702dup (p.Gln902fs)
|
|
|
NM_000152.5(GAA):c.2704C>T (p.Gln902Ter)
|
rs1057516341
|
|
NM_000152.5(GAA):c.2704_2716dup (p.Val906fs)
|
rs1057516189
|
|
NM_000152.5(GAA):c.2707_2709del (p.Lys903del)
|
rs121907939
|
|
NM_000152.5(GAA):c.2734del (p.Ala912fs)
|
|
|
NM_000152.5(GAA):c.2740C>T (p.Gln914Ter)
|
rs1555603264
|
|
NM_000152.5(GAA):c.2741delinsCAG (p.Gln914fs)
|
|
|
NM_000152.5(GAA):c.2743C>T (p.Gln915Ter)
|
|
|
NM_000152.5(GAA):c.276C>A (p.Cys92Ter)
|
rs1232001857
|
|
NM_000152.5(GAA):c.2815_2816del (p.Val939fs)
|
rs763359208
|
|
NM_000152.5(GAA):c.282del (p.Asp95fs)
|
rs2143826963
|
|
NM_000152.5(GAA):c.304C>T (p.Gln102Ter)
|
rs1432841878
|
|
NM_000152.5(GAA):c.309C>A (p.Cys103Ter)
|
rs373307393
|
|
NM_000152.5(GAA):c.309C>G (p.Cys103Trp)
|
rs373307393
|
|
NM_000152.5(GAA):c.322T>A (p.Cys108Ser)
|
rs2039038743
|
|
NM_000152.5(GAA):c.340_341insT (p.Lys114fs)
|
rs2143827701
|
|
NM_000152.5(GAA):c.342del (p.Lys114fs)
|
rs1555598796
|
|
NM_000152.5(GAA):c.355G>T (p.Gly119Ter)
|
rs1555598802
|
|
NM_000152.5(GAA):c.361C>T (p.Gln121Ter)
|
rs750668627
|
|
NM_000152.5(GAA):c.377G>A (p.Trp126Ter)
|
rs1011631903
|
|
NM_000152.5(GAA):c.378G>A (p.Trp126Ter)
|
rs2039041225
|
|
NM_000152.5(GAA):c.379_380del (p.Cys127fs)
|
rs1207988953
|
|
NM_000152.5(GAA):c.3G>A (p.Met1Ile)
|
rs1187796945
|
|
NM_000152.5(GAA):c.424_440del (p.Ser142fs)
|
|
|
NM_000152.5(GAA):c.437del (p.Met146fs)
|
rs1555598869
|
|
NM_000152.5(GAA):c.444C>G (p.Tyr148Ter)
|
rs886043112
|
|
NM_000152.5(GAA):c.456_457dup (p.Thr153fs)
|
rs2143829023
|
|
NM_000152.5(GAA):c.471del (p.Thr158fs)
|
rs1057517320
|
|
NM_000152.5(GAA):c.482_483del (p.Pro161fs)
|
rs764750389
|
|
NM_000152.5(GAA):c.520_526del (p.Glu174fs)
|
|
|
NM_000152.5(GAA):c.525_526del (p.Asn177fs)
|
rs767882689
|
|
NM_000152.5(GAA):c.528_529del (p.Asn177fs)
|
rs2143829649
|
|
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.547-1G>C
|
rs2143833579
|
|
NM_000152.5(GAA):c.569G>A (p.Arg190His)
|
rs528367092
|
|
NM_000152.5(GAA):c.573C>A (p.Tyr191Ter)
|
rs376229714
|
|
NM_000152.5(GAA):c.584T>A (p.Leu195Ter)
|
|
|
NM_000152.5(GAA):c.587del (p.Glu196fs)
|
|
|
NM_000152.5(GAA):c.639del (p.Ser214fs)
|
rs2143834462
|
|
NM_000152.5(GAA):c.643G>T (p.Glu215Ter)
|
rs201286896
|
|
NM_000152.5(GAA):c.658dup (p.Val220fs)
|
rs2143834640
|
|
NM_000152.5(GAA):c.683dup (p.Arg229fs)
|
rs2143834983
|
|
NM_000152.5(GAA):c.692+1G>C
|
rs773281453
|
|
NM_000152.5(GAA):c.692+1G>T
|
|
|
NM_000152.5(GAA):c.692+2T>C
|
rs1555599171
|
|
NM_000152.5(GAA):c.711_712dup (p.Pro238fs)
|
rs1555599586
|
|
NM_000152.5(GAA):c.716del (p.Leu239fs)
|
rs1555599594
|
|
NM_000152.5(GAA):c.722_723del (p.Phe241fs)
|
rs2039116471
|
|
NM_000152.5(GAA):c.727_728insCCACCAGGACA (p.Asp243fs)
|
|
|
NM_000152.5(GAA):c.736del (p.Leu246fs)
|
rs886043920
|
|
NM_000152.5(GAA):c.739C>T (p.Gln247Ter)
|
|
|
NM_000152.5(GAA):c.759del (p.Ser254fs)
|
rs2039117815
|
|
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.799_803delinsA (p.Leu267fs)
|
rs2039120342
|
|
NM_000152.5(GAA):c.806_830del (p.Leu269fs)
|
rs1598575231
|
|
NM_000152.5(GAA):c.854C>G (p.Pro285Arg)
|
rs764622267
|
|
NM_000152.5(GAA):c.856del (p.Thr286fs)
|
|
|
NM_000152.5(GAA):c.889_890insG (p.Phe297fs)
|
|
|
NM_000152.5(GAA):c.896T>C (p.Leu299Pro)
|
rs121907940
|
|
NM_000152.5(GAA):c.896T>G (p.Leu299Arg)
|
rs121907940
|
|
NM_000152.5(GAA):c.923A>C (p.His308Pro)
|
rs2143849751
|
|
NM_000152.5(GAA):c.930del (p.Phe311fs)
|
|
|
NM_000152.5(GAA):c.955+1G>A
|
rs1403691329
|
|
NM_000152.5(GAA):c.967C>T (p.Gln323Ter)
|
|
|
NM_000152.5(GAA):c.988_998del (p.Trp330fs)
|
|
|
NM_000152.5(GAA):c.989G>A (p.Trp330Ter)
|
rs1555599960
|
|
NM_000154.2(GALK1):c.1012dup (p.Val338fs)
|
rs1555747776
|
|
NM_000154.2(GALK1):c.102_103dup (p.Pro35fs)
|
rs771067891
|
|
NM_000154.2(GALK1):c.1055_1056del (p.Thr352fs)
|
|
|
NM_000154.2(GALK1):c.1083_1096delinsATG (p.Pro362fs)
|
rs2061563475
|
|
NM_000154.2(GALK1):c.1105C>T (p.Gln369Ter)
|
|
|
NM_000154.2(GALK1):c.1107+1G>A
|
rs2143585254
|
|
NM_000154.2(GALK1):c.162dup (p.Met55fs)
|
rs2143608028
|
|
NM_000154.2(GALK1):c.1A>G (p.Met1Val)
|
|
|
NM_000154.2(GALK1):c.1A>T (p.Met1Leu)
|
|
|
NM_000154.2(GALK1):c.202dup (p.Arg68fs)
|
|
|
NM_000154.2(GALK1):c.206dup (p.Asp70fs)
|
|
|
NM_000154.2(GALK1):c.238G>T (p.Glu80Ter)
|
rs104894577
|
|
NM_000154.2(GALK1):c.265C>T (p.Gln89Ter)
|
rs2143605190
|
|
NM_000154.2(GALK1):c.286C>T (p.Gln96Ter)
|
|
|
NM_000154.2(GALK1):c.298G>T (p.Glu100Ter)
|
rs2061599016
|
|
NM_000154.2(GALK1):c.327dup (p.Val110fs)
|
|
|
NM_000154.2(GALK1):c.364del (p.Leu122fs)
|
rs2061596711
|
|
NM_000154.2(GALK1):c.410del (p.Gly137fs)
|
rs767329054
|
|
NM_000154.2(GALK1):c.410dup (p.Gly138fs)
|
rs767329054
|
|
NM_000154.2(GALK1):c.416T>C (p.Leu139Pro)
|
|
|
NM_000154.2(GALK1):c.510T>A (p.Cys170Ter)
|
rs775843885
|
|
NM_000154.2(GALK1):c.514C>T (p.Gln172Ter)
|
rs767799179
|
|
NM_000154.2(GALK1):c.530del (p.Phe177fs)
|
rs2061594762
|
|
NM_000154.2(GALK1):c.609dup (p.Arg204fs)
|
|
|
NM_000154.2(GALK1):c.67G>T (p.Glu23Ter)
|
rs2143608501
|
|
NM_000154.2(GALK1):c.6del (p.Ala3fs)
|
rs2143608720
|
|
NM_000154.2(GALK1):c.708C>A (p.Tyr236Ter)
|
|
|
NM_000154.2(GALK1):c.710del (p.Pro237fs)
|
rs773559496
|
|
NM_000154.2(GALK1):c.768_769dup (p.Glu257fs)
|
rs2143601360
|
|
NM_000154.2(GALK1):c.781del (p.Glu261fs)
|
|
|
NM_000154.2(GALK1):c.793+2T>C
|
|
|
NM_000154.2(GALK1):c.793+2T>G
|
|
|
NM_000154.2(GALK1):c.837_841dup (p.Val281fs)
|
|
|
NM_000154.2(GALK1):c.83_84dup (p.Glu29fs)
|
|
|
NM_000154.2(GALK1):c.853_874del (p.Ile285fs)
|
rs770087254
|
|
NM_000154.2(GALK1):c.860_881del (p.Arg287fs)
|
|
|
NM_000154.2(GALK1):c.868C>T (p.Gln290Ter)
|
|
|
NM_000154.2(GALK1):c.900_902del (p.Tyr300_Arg301delinsTer)
|
|
|
NM_000154.2(GALK1):c.953_954del (p.Asp317_Tyr318insTer)
|
|
|
NM_000154.2(GALK1):c.954T>A (p.Tyr318Ter)
|
|
|
NM_000154.2(GALK1):c.98C>G (p.Ser33Ter)
|
|
|
NM_000155.2(GALT):c.-119_-116delGTCA
|
rs111033640
|
|
NM_000155.3(GALT):c.790_792invCTA (p.Leu264Ter)
|
|
|
NM_000155.4(GALT):c.1001A>G (p.Lys334Arg)
|
rs111033809
|
|
NM_000155.4(GALT):c.1006A>G (p.Met336Val)
|
rs111033810
|
|
NM_000155.4(GALT):c.100T>A (p.Tyr34Asn)
|
rs111033836
|
|
NM_000155.4(GALT):c.1030C>T (p.Gln344Ter)
|
rs111033814
|
|
NM_000155.4(GALT):c.1048del (p.Thr350fs)
|
rs775762045
|
|
NM_000155.4(GALT):c.1049C>T (p.Thr350Ile)
|
rs775317639
|
|
NM_000155.4(GALT):c.1052del (p.Pro351fs)
|
rs111033813
|
|
NM_000155.4(GALT):c.1054G>C (p.Glu352Gln)
|
|
|
NM_000155.4(GALT):c.1057C>T (p.Gln353Ter)
|
rs111033818
|
|
NM_000155.4(GALT):c.113A>C (p.Gln38Pro)
|
rs111033646
|
|
NM_000155.4(GALT):c.1140A>C (p.Ter380Cys)
|
rs111033827
|
|
NM_000155.4(GALT):c.152G>A (p.Arg51Gln)
|
rs111033648
|
|
NM_000155.4(GALT):c.152G>T (p.Arg51Leu)
|
rs111033648
|
|
NM_000155.4(GALT):c.18del (p.Asp7fs)
|
rs111033638
|
|
NM_000155.4(GALT):c.1A>C (p.Met1Leu)
|
|
|
NM_000155.4(GALT):c.1A>G (p.Met1Val)
|
rs111033639
|
|
NM_000155.4(GALT):c.200del (p.Arg67fs)
|
rs2132341744
|
|
NM_000155.4(GALT):c.213dup (p.Asn72fs)
|
|
|
NM_000155.4(GALT):c.252+2T>G
|
|
|
NM_000155.4(GALT):c.260C>G (p.Pro87Arg)
|
|
|
NM_000155.4(GALT):c.262dup (p.Gln88fs)
|
|
|
NM_000155.4(GALT):c.267C>G (p.Tyr89Ter)
|
|
|
NM_000155.4(GALT):c.289_291del (p.Asn97del)
|
rs398123179
|
|
NM_000155.4(GALT):c.290A>G (p.Asn97Ser)
|
rs111033669
|
|
NM_000155.4(GALT):c.292G>C (p.Asp98His)
|
rs111033670
|
|
NM_000155.4(GALT):c.2T>C (p.Met1Thr)
|
rs771702963
|
|
NM_000155.4(GALT):c.327del (p.Gly110fs)
|
rs2132342518
|
|
NM_000155.4(GALT):c.359del (p.Lys120fs)
|
rs1821141007
|
|
NM_000155.4(GALT):c.367C>T (p.Arg123Ter)
|
rs111033674
|
|
NM_000155.4(GALT):c.368G>A (p.Arg123Gln)
|
rs111033675
|
|
NM_000155.4(GALT):c.377+1G>A
|
|
|
NM_000155.4(GALT):c.377+1G>T
|
rs111033681
|
|
NM_000155.4(GALT):c.382G>A (p.Val128Ile)
|
|
|
NM_000155.4(GALT):c.384_388del (p.Met129fs)
|
rs2132343017
|
|
NM_000155.4(GALT):c.400del (p.Trp134fs)
|
rs111033689
|
|
NM_000155.4(GALT):c.404C>G (p.Ser135Trp)
|
rs111033690
|
|
NM_000155.4(GALT):c.40_41insT (p.Ala14fs)
|
rs1821111380
|
|
NM_000155.4(GALT):c.424A>G (p.Met142Val)
|
rs111033692
|
|
NM_000155.4(GALT):c.425T>C (p.Met142Thr)
|
rs111033695
|
|
NM_000155.4(GALT):c.428C>G (p.Ser143Trp)
|
rs111033697
|
|
NM_000155.4(GALT):c.428C>T (p.Ser143Leu)
|
rs111033697
|
|
NM_000155.4(GALT):c.439A>G (p.Ile147Val)
|
|
|
NM_000155.4(GALT):c.460T>C (p.Trp154Arg)
|
rs111033702
|
|
NM_000155.4(GALT):c.462G>A (p.Trp154Ter)
|
rs111033704
|
|
NM_000155.4(GALT):c.465_474dup (p.Glu159fs)
|
|
|
NM_000155.4(GALT):c.501G>A (p.Trp167Ter)
|
|
|
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.508-2_509del
|
rs2132343638
|
|
NM_000155.4(GALT):c.513del (p.Phe171fs)
|
rs886044409
|
|
NM_000155.4(GALT):c.530T>C (p.Met177Thr)
|
rs2132343692
|
|
NM_000155.4(GALT):c.550del (p.His184fs)
|
|
|
NM_000155.4(GALT):c.552C>A (p.His184Gln)
|
rs111033717
|
|
NM_000155.4(GALT):c.553C>T (p.Pro185Ser)
|
rs111033826
|
|
NM_000155.4(GALT):c.558C>G (p.His186Gln)
|
rs886042097
|
|
NM_000155.4(GALT):c.564+1G>A
|
rs111033723
|
|
NM_000155.4(GALT):c.576_589del (p.Ser192fs)
|
rs1198705438
|
|
NM_000155.4(GALT):c.598C>T (p.Gln200Ter)
|
rs1564101619
|
|
NM_000155.4(GALT):c.598del (p.Gln200fs)
|
rs111033738
|
|
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.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.649_653dup (p.Met219fs)
|
|
|
NM_000155.4(GALT):c.652del (p.Leu217_Leu218insTer)
|
rs111033742
|
|
NM_000155.4(GALT):c.665G>A (p.Ser222Asn)
|
|
|
NM_000155.4(GALT):c.667C>A (p.Arg223Ser)
|
rs111033750
|
|
NM_000155.4(GALT):c.684del (p.Lys229fs)
|
rs2132344399
|
|
NM_000155.4(GALT):c.717G>T (p.Trp239Cys)
|
|
|
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.747G>A (p.Trp249Ter)
|
rs111033758
|
|
NM_000155.4(GALT):c.752_753delinsCT (p.Tyr251Ser)
|
rs886043390
|
|
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.812A>G (p.Glu271Gly)
|
rs111033765
|
|
NM_000155.4(GALT):c.813G>C (p.Glu271Asp)
|
|
|
NM_000155.4(GALT):c.814del (p.Arg272fs)
|
rs2132345163
|
|
NM_000155.4(GALT):c.815G>A (p.Arg272His)
|
rs111033831
|
|
NM_000155.4(GALT):c.82+2T>G
|
|
|
NM_000155.4(GALT):c.820+13A>G
|
rs111033768
|
|
NM_000155.4(GALT):c.894G>A (p.Met298Ile)
|
rs1821187550
|
|
NM_000155.4(GALT):c.899G>A (p.Trp300Ter)
|
rs1064794295
|
|
NM_000155.4(GALT):c.904+1G>A
|
rs367543271
|
|
NM_000155.4(GALT):c.904+1G>T
|
rs367543271
|
|
NM_000155.4(GALT):c.912dup (p.Thr305fs)
|
rs746285782
|
|
NM_000155.4(GALT):c.949C>T (p.Gln317Ter)
|
|
|
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.997C>T (p.Arg333Trp)
|
rs111033800
|
|
NM_000158.4(GBE1):c.1031G>A (p.Trp344Ter)
|
rs773381709
|
|
NM_000158.4(GBE1):c.1032G>A (p.Trp344Ter)
|
rs2106957076
|
|
NM_000158.4(GBE1):c.1034G>A (p.Trp345Ter)
|
|
|
NM_000158.4(GBE1):c.1053del (p.Phe351fs)
|
|
|
NM_000158.4(GBE1):c.1098_1099insGTGA (p.His367fs)
|
|
|
NM_000158.4(GBE1):c.1115del (p.Gly372fs)
|
|
|
NM_000158.4(GBE1):c.1126_1127insCGGGAGAAGTAGATTGAAGCCAGTTGATTAGGGTGCTTAGC (p.Asp376delinsAlaGlyGluValAspTer)
|
|
|
NM_000158.4(GBE1):c.1169del (p.Ala389_Leu390insTer)
|
|
|
NM_000158.4(GBE1):c.1245_1258del (p.Gly416fs)
|
rs1703800818
|
|
NM_000158.4(GBE1):c.1281del (p.Gly429fs)
|
|
|
NM_000158.4(GBE1):c.1333C>T (p.Gln445Ter)
|
rs1703799803
|
|
NM_000158.4(GBE1):c.1336-1G>A
|
rs375253942
|
|
NM_000158.4(GBE1):c.1343_1344del (p.Lys448fs)
|
rs2106938660
|
|
NM_000158.4(GBE1):c.136C>T (p.Gln46Ter)
|
|
|
NM_000158.4(GBE1):c.1373del (p.Gly458fs)
|
|
|
NM_000158.4(GBE1):c.1379del (p.Ile460fs)
|
|
|
NM_000158.4(GBE1):c.1386C>G (p.Tyr462Ter)
|
rs1703726090
|
|
NM_000158.4(GBE1):c.1403del (p.Arg468fs)
|
rs2106938514
|
|
NM_000158.4(GBE1):c.143+1G>A
|
rs397515343
|
|
NM_000158.4(GBE1):c.143+2T>C
|
rs2107250439
|
|
NM_000158.4(GBE1):c.144-1G>C
|
|
|
NM_000158.4(GBE1):c.1479G>A (p.Trp493Ter)
|
rs1703673227
|
|
NM_000158.4(GBE1):c.149del (p.Lys50fs)
|
rs2107169014
|
|
NM_000158.4(GBE1):c.1538_1563del (p.Ile513fs)
|
|
|
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.1569del (p.Arg524fs)
|
|
|
NM_000158.4(GBE1):c.1605T>A (p.Tyr535Ter)
|
|
|
NM_000158.4(GBE1):c.1675_1676dup (p.Ser559fs)
|
rs1412857849
|
|
NM_000158.4(GBE1):c.167del (p.Ile55_Leu56insTer)
|
|
|
NM_000158.4(GBE1):c.1680C>G (p.Tyr560Ter)
|
|
|
NM_000158.4(GBE1):c.169A>T (p.Lys57Ter)
|
|
|
NM_000158.4(GBE1):c.1706del (p.His568_Leu569insTer)
|
rs1367364158
|
|
NM_000158.4(GBE1):c.172_173del (p.Asn58fs)
|
|
|
NM_000158.4(GBE1):c.1743del (p.Asn581fs)
|
|
|
NM_000158.4(GBE1):c.1788G>A (p.Trp596Ter)
|
rs201029706
|
|
NM_000158.4(GBE1):c.1825G>T (p.Glu609Ter)
|
rs772802187
|
|
NM_000158.4(GBE1):c.1854del (p.Ala619fs)
|
|
|
NM_000158.4(GBE1):c.1861_1875CTT[2]TTCATTTTCTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTCTTTTCATTTTC[1] (p.Asn626delinsPhePhePhePhePhePheXaaXaaXaaXaaCysTer)
|
rs2106869587
|
|
NM_000158.4(GBE1):c.1961_1962del (p.Ala654fs)
|
rs2106809957
|
|
NM_000158.4(GBE1):c.2011del (p.Ser671fs)
|
|
|
NM_000158.4(GBE1):c.202_203del (p.Lys68fs)
|
rs1705761854
|
|
NM_000158.4(GBE1):c.216del (p.Tyr73fs)
|
rs2107168870
|
|
NM_000158.4(GBE1):c.26del (p.Ala9fs)
|
|
|
NM_000158.4(GBE1):c.274del (p.Ala92fs)
|
|
|
NM_000158.4(GBE1):c.288del (p.Gly97fs)
|
rs1057517315
|
|
NM_000158.4(GBE1):c.317del (p.Gly106fs)
|
rs2107114812
|
|
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.348dup (p.Leu117fs)
|
|
|
NM_000158.4(GBE1):c.34G>T (p.Glu12Ter)
|
|
|
NM_000158.4(GBE1):c.367G>T (p.Glu123Ter)
|
|
|
NM_000158.4(GBE1):c.43G>T (p.Glu15Ter)
|
rs774709930
|
|
NM_000158.4(GBE1):c.466_470del (p.Arg156fs)
|
rs2107074878
|
|
NM_000158.4(GBE1):c.47del (p.Ala16fs)
|
rs2107250805
|
|
NM_000158.4(GBE1):c.480G>A (p.Trp160Ter)
|
rs776943352
|
|
NM_000158.4(GBE1):c.505del (p.Asp169fs)
|
rs1370223073
|
|
NM_000158.4(GBE1):c.608_609del (p.His203fs)
|
|
|
NM_000158.4(GBE1):c.646dup (p.Tyr216fs)
|
|
|
NM_000158.4(GBE1):c.648T>A (p.Tyr216Ter)
|
|
|
NM_000158.4(GBE1):c.691+1G>A
|
|
|
NM_000158.4(GBE1):c.691+1G>T
|
|
|
NM_000158.4(GBE1):c.791G>A (p.Gly264Glu)
|
rs754525424
|
|
NM_000158.4(GBE1):c.810_811delinsTT (p.Gln270_Glu271delinsHisTer)
|
rs2107059792
|
|
NM_000158.4(GBE1):c.811G>T (p.Glu271Ter)
|
|
|
NM_000158.4(GBE1):c.909_912del (p.Phe303fs)
|
rs2107059544
|
|
NM_000158.4(GBE1):c.966G>A (p.Trp322Ter)
|
rs1559673456
|
|
NM_000158.4(GBE1):c.986A>C (p.Tyr329Ser)
|
rs80338671
|
|
NM_000181.4(GUSB):c.1047del (p.Asn349fs)
|
|
|
NM_000181.4(GUSB):c.11_12del (p.Gly4fs)
|
|
|
NM_000181.4(GUSB):c.1455dup (p.Asn486Ter)
|
|
|
NM_000181.4(GUSB):c.1457_1460del (p.Asn486fs)
|
|
|
NM_000181.4(GUSB):c.1756dup (p.Ile586fs)
|
|
|
NM_000181.4(GUSB):c.1798dup (p.Arg600fs)
|
|
|
NM_000181.4(GUSB):c.1809dup (p.Asn604fs)
|
|
|
NM_000181.4(GUSB):c.1865T>A (p.Leu622Ter)
|
|
|
NM_000181.4(GUSB):c.1872_1875del (p.Glu624fs)
|
|
|
NM_000181.4(GUSB):c.1872_1875dup (p.Tyr626fs)
|
|
|
NM_000181.4(GUSB):c.1874_1875del (p.Arg625fs)
|
rs935464108
|
|
NM_000181.4(GUSB):c.1880G>A (p.Trp627Ter)
|
rs1236992554
|
|
NM_000181.4(GUSB):c.190del (p.Tyr64fs)
|
|
|
NM_000181.4(GUSB):c.24del (p.Trp9fs)
|
|
|
NM_000181.4(GUSB):c.320del (p.Leu107fs)
|
|
|
NM_000181.4(GUSB):c.325G>T (p.Glu109Ter)
|
|
|
NM_000181.4(GUSB):c.434del (p.Gly145fs)
|
|
|
NM_000181.4(GUSB):c.499C>T (p.Arg167Ter)
|
|
|
NM_000181.4(GUSB):c.507dup (p.Ile170fs)
|
|
|
NM_000181.4(GUSB):c.527_530del (p.Leu176fs)
|
|
|
NM_000181.4(GUSB):c.604C>T (p.Gln202Ter)
|
|
|
NM_000181.4(GUSB):c.643C>T (p.Gln215Ter)
|
|
|
NM_000181.4(GUSB):c.738C>G (p.Tyr246Ter)
|
|
|
NM_000181.4(GUSB):c.739C>T (p.Gln247Ter)
|
|
|
NM_000181.4(GUSB):c.74dup (p.Gly26fs)
|
|
|
NM_000181.4(GUSB):c.76_79dup (p.Met27fs)
|
|
|
NM_000181.4(GUSB):c.867_871del (p.Trp289_Tyr291delinsTer)
|
|
|
NM_000181.4(GUSB):c.916C>T (p.Gln306Ter)
|
|
|
NM_000181.4(GUSB):c.91C>T (p.Gln31Ter)
|
|
|
NM_000181.4(GUSB):c.932dup (p.Ser312fs)
|
|
|
NM_000199.5(SGSH):c.1027dup (p.Leu343fs)
|
rs778700037
|
|
NM_000199.5(SGSH):c.1080del (p.Val361fs)
|
rs770947426
|
|
NM_000199.5(SGSH):c.1091_1103del (p.Ser364fs)
|
rs1567915763
|
|
NM_000199.5(SGSH):c.1130G>A (p.Arg377His)
|
rs746037899
|
|
NM_000199.5(SGSH):c.1131del (p.Ser378fs)
|
|
|
NM_000199.5(SGSH):c.1144_1145insAGCGCC (p.His381_Arg382insGlnArg)
|
rs398123244
|
|
NM_000199.5(SGSH):c.1153del (p.Arg385fs)
|
rs2041615714
|
|
NM_000199.5(SGSH):c.120C>G (p.Tyr40Ter)
|
|
|
NM_000199.5(SGSH):c.1241_1242dup (p.Thr415fs)
|
rs1484648912
|
|
NM_000199.5(SGSH):c.1260del (p.Thr421fs)
|
|
|
NM_000199.5(SGSH):c.1265dup (p.Trp423fs)
|
|
|
NM_000199.5(SGSH):c.1268G>A (p.Trp423Ter)
|
|
|
NM_000199.5(SGSH):c.1272_1282del (p.Tyr424_Arg428delinsTer)
|
rs752914124
|
|
NM_000199.5(SGSH):c.1276del (p.Asp426fs)
|
|
|
NM_000199.5(SGSH):c.1286del (p.His429fs)
|
|
|
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.1336del (p.His446fs)
|
|
|
NM_000199.5(SGSH):c.1345C>T (p.Gln449Ter)
|
|
|
NM_000199.5(SGSH):c.1345del (p.Gln449fs)
|
rs1466245913
|
|
NM_000199.5(SGSH):c.1375C>T (p.Gln459Ter)
|
rs1567914459
|
|
NM_000199.5(SGSH):c.1380del (p.Leu461fs)
|
rs1555620092
|
|
NM_000199.5(SGSH):c.1412G>A (p.Trp471Ter)
|
rs2144689256
|
|
NM_000199.5(SGSH):c.1417del (p.Trp473fs)
|
|
|
NM_000199.5(SGSH):c.1418G>A (p.Trp473Ter)
|
|
|
NM_000199.5(SGSH):c.1426del (p.His476fs)
|
rs2041597805
|
|
NM_000199.5(SGSH):c.178_234del (p.Phe60_Leu78del)
|
|
|
NM_000199.5(SGSH):c.1A>C (p.Met1Leu)
|
rs1250300189
|
|
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.250-289_463del
|
rs2144748721
|
|
NM_000199.5(SGSH):c.265_269del (p.Tyr89fs)
|
rs2041840084
|
|
NM_000199.5(SGSH):c.277C>T (p.Gln93Ter)
|
|
|
NM_000199.5(SGSH):c.282_283dup (p.Val95fs)
|
rs2144754863
|
|
NM_000199.5(SGSH):c.2T>G (p.Met1Arg)
|
rs1488660868
|
|
NM_000199.5(SGSH):c.301_303del (p.Phe101del)
|
|
|
NM_000199.5(SGSH):c.303C>A (p.Phe101Leu)
|
rs150482611
|
|
NM_000199.5(SGSH):c.324dup (p.Leu109fs)
|
|
|
NM_000199.5(SGSH):c.364G>C (p.Gly122Arg)
|
|
|
NM_000199.5(SGSH):c.389_392del (p.Thr130fs)
|
|
|
NM_000199.5(SGSH):c.391del (p.Val131fs)
|
|
|
NM_000199.5(SGSH):c.398del (p.Pro133fs)
|
rs2144749648
|
|
NM_000199.5(SGSH):c.402dup (p.Asp135Ter)
|
rs1598749984
|
|
NM_000199.5(SGSH):c.418G>T (p.Glu140Ter)
|
rs2144749282
|
|
NM_000199.5(SGSH):c.466A>T (p.Lys156Ter)
|
rs2041818115
|
|
NM_000199.5(SGSH):c.481A>T (p.Lys161Ter)
|
|
|
NM_000199.5(SGSH):c.48del (p.Leu17fs)
|
|
|
NM_000199.5(SGSH):c.490C>T (p.Gln164Ter)
|
rs1598749661
|
|
NM_000199.5(SGSH):c.496C>T (p.Gln166Ter)
|
|
|
NM_000199.5(SGSH):c.506+1G>A
|
rs763063355
|
|
NM_000199.5(SGSH):c.544dup (p.Arg182fs)
|
|
|
NM_000199.5(SGSH):c.578_579delinsAA (p.Phe193Ter)
|
|
|
NM_000199.5(SGSH):c.598G>T (p.Gly200Ter)
|
|
|
NM_000199.5(SGSH):c.617G>C (p.Arg206Pro)
|
rs104894643
|
|
NM_000199.5(SGSH):c.630G>A (p.Trp210Ter)
|
rs373031930
|
|
NM_000199.5(SGSH):c.637dup (p.Gln213fs)
|
rs2144742329
|
|
NM_000199.5(SGSH):c.642del (p.Tyr215fs)
|
rs2144742222
|
|
NM_000199.5(SGSH):c.645C>A (p.Tyr215Ter)
|
|
|
NM_000199.5(SGSH):c.691_698del (p.Ala231fs)
|
|
|
NM_000199.5(SGSH):c.693_705del (p.Ala232fs)
|
rs2041772144
|
|
NM_000199.5(SGSH):c.714del (p.Gln239fs)
|
|
|
NM_000199.5(SGSH):c.745+1G>C
|
rs748525651
|
|
NM_000199.5(SGSH):c.757del (p.Val253fs)
|
rs760281672
|
|
NM_000199.5(SGSH):c.790_794delinsGCCAGAAGCGGGGGGAGGGGGGGGGTTTGGTGGAAATTTTTTGTTATGATGTCTGTGTGGAAAGCGGCTGTGCAGACATTCAATTGTTATTATTATGTCCTACAAGCATTAATTAATTAACACACTTTAGTAGGTATGTTCGCCTGTAATATTGAACGTAGGTGCGATAAATAATAGGATGAGGCAGGAATCAAAGACAGATACTGCGACATAGGGTGCTCCGG (p.Asn264_Asp265delinsAlaArgSerGlyGlyArgGlyGlyValTrpTrpLysPhePheValMetMetSerValTrpLysAlaAlaValGlnThrPheAsnCysTyrTyrTyrValLeuGlnAlaLeuIleAsnTer)
|
|
|
NM_000199.5(SGSH):c.794_795insAGGTGCGATAAATAATAGGATGAGGCAGGAATCAAAGACAGATACTGCGACATAGGGTGCTCCGG (p.Asp265delinsGluGlyAlaIleAsnAsnArgMetArgGlnGluSerLysThrAspThrAlaThrTer)
|
|
|
NM_000199.5(SGSH):c.823G>A (p.Gly275Arg)
|
rs765361603
|
|
NM_000199.5(SGSH):c.833_834del (p.Phe278fs)
|
|
|
NM_000199.5(SGSH):c.909del (p.Lys303fs)
|
rs775136193
|
|
NM_000199.5(SGSH):c.915G>A (p.Trp305Ter)
|
|
|
NM_000199.5(SGSH):c.949+1G>A
|
|
|
NM_000202.8(IDS):c.1004A>G (p.His335Arg)
|
|
|
NM_000202.8(IDS):c.1006+1G>C
|
|
|
NM_000202.8(IDS):c.1007-1G>A
|
|
|
NM_000202.8(IDS):c.1019G>A (p.Gly340Asp)
|
|
|
NM_000202.8(IDS):c.104-2A>G
|
rs2089505773
|
|
NM_000202.8(IDS):c.1106C>A (p.Ser369Ter)
|
rs1557338127
|
|
NM_000202.8(IDS):c.1115del (p.Glu372fs)
|
rs2124005776
|
|
NM_000202.8(IDS):c.1122C>T (p.Gly374=)
|
rs113993948
|
|
NM_000202.8(IDS):c.1123G>T (p.Glu375Ter)
|
rs782634993
|
|
NM_000202.8(IDS):c.1165C>T (p.Gln389Ter)
|
|
|
NM_000202.8(IDS):c.1181-1G>A
|
rs864622777
|
|
NM_000202.8(IDS):c.1188del (p.Gln396fs)
|
|
|
NM_000202.8(IDS):c.1216_1217del (p.Leu406fs)
|
rs2123995091
|
|
NM_000202.8(IDS):c.1224dup (p.Thr409fs)
|
rs2123995054
|
|
NM_000202.8(IDS):c.1265G>A (p.Cys422Tyr)
|
rs886044835
|
|
NM_000202.8(IDS):c.1327C>T (p.Arg443Ter)
|
rs199422227
|
|
NM_000202.8(IDS):c.133G>C (p.Asp45His)
|
rs869025301
|
|
NM_000202.8(IDS):c.1393C>T (p.Gln465Ter)
|
rs864622772
|
|
NM_000202.8(IDS):c.1402C>T (p.Arg468Trp)
|
rs199422231
|
|
NM_000202.8(IDS):c.1402del (p.Arg468fs)
|
rs2123994397
|
|
NM_000202.8(IDS):c.1425G>A (p.Trp475Ter)
|
rs199422230
|
|
NM_000202.8(IDS):c.1445T>G (p.Leu482Ter)
|
|
|
NM_000202.8(IDS):c.1454_1455del (p.Ile485fs)
|
rs2089305017
|
|
NM_000202.8(IDS):c.1470T>A (p.Tyr490Ter)
|
|
|
NM_000202.8(IDS):c.1506G>A (p.Trp502Ter)
|
|
|
NM_000202.8(IDS):c.1508T>A (p.Val503Asp)
|
rs398123248
|
|
NM_000202.8(IDS):c.1561G>A (p.Glu521Lys)
|
rs2124648301
|
|
NM_000202.8(IDS):c.1561dup (p.Glu521fs)
|
rs2124648304
|
|
NM_000202.8(IDS):c.1589dup (p.Leu530fs)
|
rs2124648266
|
|
NM_000202.8(IDS):c.172del (p.Leu58fs)
|
|
|
NM_000202.8(IDS):c.212G>A (p.Ser71Asn)
|
rs113993954
|
|
NM_000202.8(IDS):c.22C>T (p.Arg8Ter)
|
rs1602750610
|
|
NM_000202.8(IDS):c.230C>A (p.Ala77Asp)
|
|
|
NM_000202.8(IDS):c.238C>T (p.Gln80Ter)
|
rs1569560527
|
|
NM_000202.8(IDS):c.239A>G (p.Gln80Arg)
|
|
|
NM_000202.8(IDS):c.240+2T>C
|
|
|
NM_000202.8(IDS):c.241-2A>G
|
|
|
NM_000202.8(IDS):c.253G>A (p.Ala85Thr)
|
rs113993949
|
|
NM_000202.8(IDS):c.257C>G (p.Pro86Arg)
|
rs1557340280
|
|
NM_000202.8(IDS):c.257C>T (p.Pro86Leu)
|
rs1557340280
|
|
NM_000202.8(IDS):c.262C>T (p.Arg88Cys)
|
rs398123249
|
|
NM_000202.8(IDS):c.263G>A (p.Arg88His)
|
rs2089497431
|
|
NM_000202.8(IDS):c.2T>C (p.Met1Thr)
|
rs2124069617
|
|
NM_000202.8(IDS):c.309C>G (p.Tyr103Ter)
|
rs1174495581
|
|
NM_000202.8(IDS):c.30dup (p.Leu11fs)
|
|
|
NM_000202.8(IDS):c.361C>T (p.Gln121Ter)
|
rs2124063075
|
|
NM_000202.8(IDS):c.36G>A (p.Trp12Ter)
|
|
|
NM_000202.8(IDS):c.418+1G>C
|
rs1602748255
|
|
NM_000202.8(IDS):c.419-1G>A
|
rs1557339927
|
|
NM_000202.8(IDS):c.458G>A (p.Trp153Ter)
|
rs2124055460
|
|
NM_000202.8(IDS):c.507+1G>A
|
rs2124055167
|
|
NM_000202.8(IDS):c.508-1G>A
|
rs113993947
|
|
NM_000202.8(IDS):c.514C>T (p.Arg172Ter)
|
rs104894860
|
|
NM_000202.8(IDS):c.551G>T (p.Cys184Phe)
|
|
|
NM_000202.8(IDS):c.594_595del (p.Asp198fs)
|
rs2124046923
|
|
NM_000202.8(IDS):c.596_599del (p.Lys199fs)
|
rs2089451657
|
|
NM_000202.8(IDS):c.653_654del (p.Pro218fs)
|
rs2089450982
|
|
NM_000202.8(IDS):c.686A>G (p.His229Arg)
|
|
|
NM_000202.8(IDS):c.692C>T (p.Pro231Leu)
|
rs2089450305
|
|
NM_000202.8(IDS):c.702C>A (p.Tyr234Ter)
|
rs1569560489
|
|
NM_000202.8(IDS):c.708+1G>A
|
rs864622778
|
|
NM_000202.8(IDS):c.708+1G>T
|
rs864622778
|
|
NM_000202.8(IDS):c.782del (p.Pro261fs)
|
|
|
NM_000202.8(IDS):c.795C>A (p.Asn265Lys)
|
rs1207417919
|
|
NM_000202.8(IDS):c.838_842del (p.Asn280fs)
|
rs2089436271
|
|
NM_000202.8(IDS):c.880-2A>C
|
|
|
NM_000202.8(IDS):c.88_89insAT (p.Ala30fs)
|
rs1602750400
|
|
NM_000202.8(IDS):c.984del (p.Ile329fs)
|
rs1602734459
|
|
NM_000202.8(IDS):c.998C>G (p.Ser333Trp)
|
rs104894853
|
|
NM_000202.8(IDS):c.998C>T (p.Ser333Leu)
|
rs104894853
|
|
NM_000203.4(IDUA):c.1960T>G (p.Ter654Gly)
|
rs387906504
|
|
NM_000203.5(IDUA):c.-14_10del (p.Met1_Leu4del)
|
|
|
NM_000203.5(IDUA):c.-23_18del (p.Met1fs)
|
|
|
NM_000203.5(IDUA):c.1023_1026del (p.Pro342fs)
|
|
|
NM_000203.5(IDUA):c.1029C>G (p.Tyr343Ter)
|
rs764196171
|
|
NM_000203.5(IDUA):c.1036del (p.Leu345_Leu346insTer)
|
rs2153022341
|
|
NM_000203.5(IDUA):c.1037T>G (p.Leu346Arg)
|
rs121965033
|
|
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.1047dup (p.Asn350fs)
|
rs2153022358
|
|
NM_000203.5(IDUA):c.1073_1093del (p.His358_Thr364del)
|
rs1214495121
|
|
NM_000203.5(IDUA):c.1077del (p.Phe360fs)
|
rs2153022377
|
|
NM_000203.5(IDUA):c.1088_1089dup (p.Thr364fs)
|
rs2153022390
|
|
NM_000203.5(IDUA):c.1091C>T (p.Thr364Met)
|
rs121965032
|
|
NM_000203.5(IDUA):c.1099G>C (p.Ala367Pro)
|
|
|
NM_000203.5(IDUA):c.1108C>T (p.Gln370Ter)
|
rs2153022415
|
|
NM_000203.5(IDUA):c.1137_1138dup (p.Gln380fs)
|
|
|
NM_000203.5(IDUA):c.1163del (p.Thr388fs)
|
rs1577541504
|
|
NM_000203.5(IDUA):c.1167del (p.Met390fs)
|
rs2153022443
|
|
NM_000203.5(IDUA):c.1190-10C>A
|
rs1443642527
|
|
NM_000203.5(IDUA):c.1190-1del
|
|
|
NM_000203.5(IDUA):c.1206G>A (p.Trp402Ter)
|
rs991612107
|
|
NM_000203.5(IDUA):c.1210G>T (p.Glu404Ter)
|
rs1340421020
|
|
NM_000203.5(IDUA):c.1227dup (p.Thr410fs)
|
rs1715179164
|
|
NM_000203.5(IDUA):c.123G>A (p.Trp41Ter)
|
|
|
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.1306del (p.Ala436fs)
|
|
|
NM_000203.5(IDUA):c.1323C>A (p.Tyr441Ter)
|
|
|
NM_000203.5(IDUA):c.1323C>G (p.Tyr441Ter)
|
|
|
NM_000203.5(IDUA):c.1326_1330dup (p.Asp444fs)
|
|
|
NM_000203.5(IDUA):c.132del (p.Arg45fs)
|
rs2153015244
|
|
NM_000203.5(IDUA):c.1330GAC[1] (p.Asp445del)
|
rs1715188461
|
|
NM_000203.5(IDUA):c.1395del (p.Gly466fs)
|
rs1386109118
|
|
NM_000203.5(IDUA):c.1395dup (p.Gly466fs)
|
rs1386109118
|
|
NM_000203.5(IDUA):c.1402+2T>G
|
rs1553917428
|
|
NM_000203.5(IDUA):c.1403-1G>A
|
|
|
NM_000203.5(IDUA):c.141G>A (p.Trp47Ter)
|
rs1713799895
|
|
NM_000203.5(IDUA):c.1456G>T (p.Glu486Ter)
|
rs1356329915
|
|
NM_000203.5(IDUA):c.1460G>T (p.Trp487Leu)
|
rs1715210316
|
|
NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro)
|
rs121965027
|
|
NM_000203.5(IDUA):c.1496_1497del (p.Glu499fs)
|
rs2153022799
|
|
NM_000203.5(IDUA):c.1498C>T (p.Gln500Ter)
|
rs1290558249
|
|
NM_000203.5(IDUA):c.1529dup (p.Val511fs)
|
|
|
NM_000203.5(IDUA):c.1546dup (p.Arg516fs)
|
rs2153022895
|
|
NM_000203.5(IDUA):c.1561_1570del (p.Ala520_Gly521insTer)
|
rs1715237631
|
|
NM_000203.5(IDUA):c.1587_1588dup (p.Leu530fs)
|
|
|
NM_000203.5(IDUA):c.159-19_160del
|
rs398123255
|
|
NM_000203.5(IDUA):c.1598C>T (p.Pro533Leu)
|
rs121965021
|
|
NM_000203.5(IDUA):c.159C>A (p.Cys53Ter)
|
rs758190824
|
|
NM_000203.5(IDUA):c.1602del (p.Leu535fs)
|
rs1553917566
|
|
NM_000203.5(IDUA):c.1623T>A (p.Cys541Ter)
|
rs2153022938
|
|
NM_000203.5(IDUA):c.1646_1647del (p.Gly549fs)
|
|
|
NM_000203.5(IDUA):c.1648C>T (p.Gln550Ter)
|
rs2153022958
|
|
NM_000203.5(IDUA):c.164dup (p.Leu56fs)
|
rs727503966
|
|
NM_000203.5(IDUA):c.1650+5G>A
|
rs398123256
|
|
NM_000203.5(IDUA):c.1681C>T (p.Gln561Ter)
|
rs752800292
|
|
NM_000203.5(IDUA):c.1695_1705del (p.Leu566fs)
|
rs1220371654
|
|
NM_000203.5(IDUA):c.1708G>C (p.Asp570His)
|
rs1553917627
|
|
NM_000203.5(IDUA):c.170_209dup (p.Gln70delinsHisThrGlnProGlyTer)
|
rs1577508778
|
|
NM_000203.5(IDUA):c.1713del (p.Glu571fs)
|
|
|
NM_000203.5(IDUA):c.1727+1G>A
|
rs1577544451
|
|
NM_000203.5(IDUA):c.1728-1G>A
|
rs1249951282
|
|
NM_000203.5(IDUA):c.1728-2A>G
|
rs1553917699
|
|
NM_000203.5(IDUA):c.1737G>A (p.Trp579Ter)
|
|
|
NM_000203.5(IDUA):c.1750C>T (p.Gln584Ter)
|
rs1715290919
|
|
NM_000203.5(IDUA):c.175del (p.Ser59fs)
|
|
|
NM_000203.5(IDUA):c.1766del (p.Gly589fs)
|
rs1715293163
|
|
NM_000203.5(IDUA):c.178C>T (p.Gln60Ter)
|
rs1577508801
|
|
NM_000203.5(IDUA):c.1799C>A (p.Ser600Ter)
|
rs867456178
|
|
NM_000203.5(IDUA):c.1799del (p.Pro599_Ser600insTer)
|
rs398123258
|
|
NM_000203.5(IDUA):c.1815dup (p.Val606fs)
|
rs2153023210
|
|
NM_000203.5(IDUA):c.1854C>A (p.Tyr618Ter)
|
rs746936485
|
|
NM_000203.5(IDUA):c.1855C>G (p.Arg619Gly)
|
rs121965031
|
|
NM_000203.5(IDUA):c.1858G>T (p.Val620Phe)
|
rs2153023278
|
|
NM_000203.5(IDUA):c.1861C>T (p.Arg621Ter)
|
rs121965025
|
|
NM_000203.5(IDUA):c.1877G>A (p.Trp626Ter)
|
rs1456090810
|
|
NM_000203.5(IDUA):c.187C>T (p.Gln63Ter)
|
rs2153015621
|
|
NM_000203.5(IDUA):c.1882del (p.Arg628fs)
|
|
|
NM_000203.5(IDUA):c.1893del (p.Phe632fs)
|
rs1553917754
|
|
NM_000203.5(IDUA):c.1898C>A (p.Ser633Ter)
|
rs886043347
|
|
NM_000203.5(IDUA):c.1898C>G (p.Ser633Trp)
|
rs886043347
|
|
NM_000203.5(IDUA):c.192C>A (p.Tyr64Ter)
|
rs121965022
|
|
NM_000203.5(IDUA):c.1960T>C (p.Ter654Arg)
|
rs387906504
|
|
NM_000203.5(IDUA):c.19dup (p.Arg7fs)
|
|
|
NM_000203.5(IDUA):c.1A>C (p.Met1Leu)
|
rs1553914737
|
|
NM_000203.5(IDUA):c.1A>G (p.Met1Val)
|
rs1553914737
|
|
NM_000203.5(IDUA):c.203G>A (p.Trp68Ter)
|
|
|
NM_000203.5(IDUA):c.209del (p.Gln70fs)
|
rs2153015644
|
|
NM_000203.5(IDUA):c.236C>T (p.Ala79Val)
|
rs747981483
|
|
NM_000203.5(IDUA):c.242dup (p.His82fs)
|
rs1713866822
|
|
NM_000203.5(IDUA):c.265C>G (p.Arg89Gly)
|
|
|
NM_000203.5(IDUA):c.299+1G>C
|
rs398123259
|
|
NM_000203.5(IDUA):c.2T>C (p.Met1Thr)
|
rs753767675
|
|
NM_000203.5(IDUA):c.300-3C>G
|
rs1226056948
|
|
NM_000203.5(IDUA):c.306del (p.Thr103fs)
|
rs1461124319
|
|
NM_000203.5(IDUA):c.326_331del (p.Tyr109_Asn110del)
|
|
|
NM_000203.5(IDUA):c.349del (p.Tyr117fs)
|
rs2153021628
|
|
NM_000203.5(IDUA):c.367G>T (p.Glu123Ter)
|
|
|
NM_000203.5(IDUA):c.385+1G>C
|
rs780615798
|
|
NM_000203.5(IDUA):c.386-1G>A
|
rs2153021698
|
|
NM_000203.5(IDUA):c.398_403del (p.Met133_Gly134del)
|
rs774605197
|
|
NM_000203.5(IDUA):c.403del (p.Ser135fs)
|
rs2153021702
|
|
NM_000203.5(IDUA):c.439C>T (p.Gln147Ter)
|
rs1389029860
|
|
NM_000203.5(IDUA):c.457A>T (p.Lys153Ter)
|
rs1715035049
|
|
NM_000203.5(IDUA):c.46_57del (p.Ser16_Ala19del)
|
rs398123260
|
|
NM_000203.5(IDUA):c.47C>A (p.Ser16Ter)
|
rs567921262
|
|
NM_000203.5(IDUA):c.493+1G>T
|
|
|
NM_000203.5(IDUA):c.504_510del (p.Leu169fs)
|
|
|
NM_000203.5(IDUA):c.523_534del (p.Trp175_Glu178del)
|
|
|
NM_000203.5(IDUA):c.525G>A (p.Trp175Ter)
|
rs776305028
|
|
NM_000203.5(IDUA):c.532G>A (p.Glu178Lys)
|
|
|
NM_000203.5(IDUA):c.536C>G (p.Thr179Arg)
|
rs776098539
|
|
NM_000203.5(IDUA):c.542dup (p.Asn181fs)
|
rs1553917044
|
|
NM_000203.5(IDUA):c.570del (p.Asn190fs)
|
rs1330366594
|
|
NM_000203.5(IDUA):c.576del (p.Ser192_Met193insTer)
|
|
|
NM_000203.5(IDUA):c.585dup (p.Gln196fs)
|
rs2153021921
|
|
NM_000203.5(IDUA):c.586C>T (p.Gln196Ter)
|
|
|
NM_000203.5(IDUA):c.590-1G>A
|
rs1715084294
|
|
NM_000203.5(IDUA):c.590-2A>G
|
rs1252941339
|
|
NM_000203.5(IDUA):c.590-7G>A
|
rs762411583
|
|
NM_000203.5(IDUA):c.606C>A (p.Tyr202Ter)
|
rs1033313360
|
|
NM_000203.5(IDUA):c.606C>G (p.Tyr202Ter)
|
rs1033313360
|
|
NM_000203.5(IDUA):c.607G>A (p.Asp203Asn)
|
rs2153021976
|
|
NM_000203.5(IDUA):c.607_614dup (p.Cys205fs)
|
|
|
NM_000203.5(IDUA):c.60_61delinsA (p.Pro22fs)
|
rs1553914762
|
|
NM_000203.5(IDUA):c.612_615del (p.Cys205fs)
|
rs875989947
|
|
NM_000203.5(IDUA):c.613_617dup (p.Glu207fs)
|
rs786200915
|
|
NM_000203.5(IDUA):c.614G>A (p.Cys205Tyr)
|
rs1715086540
|
|
NM_000203.5(IDUA):c.615C>A (p.Cys205Ter)
|
rs1715086654
|
|
NM_000203.5(IDUA):c.630del (p.Ala211fs)
|
|
|
NM_000203.5(IDUA):c.642_646del (p.Leu216fs)
|
rs2153022009
|
|
NM_000203.5(IDUA):c.722_723delinsAA (p.Cys241Ter)
|
|
|
NM_000203.5(IDUA):c.774C>A (p.Tyr258Ter)
|
|
|
NM_000203.5(IDUA):c.784del (p.His262fs)
|
rs757928590
|
|
NM_000203.5(IDUA):c.793-2A>G
|
|
|
NM_000203.5(IDUA):c.820G>T (p.Glu274Ter)
|
rs1553917192
|
|
NM_000203.5(IDUA):c.853del (p.Gln285fs)
|
rs2153022188
|
|
NM_000203.5(IDUA):c.866del (p.Lys289fs)
|
|
|
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.882dup (p.Ile295fs)
|
rs2153022202
|
|
NM_000203.5(IDUA):c.895G>T (p.Glu299Ter)
|
rs1715120049
|
|
NM_000203.5(IDUA):c.898G>A (p.Ala300Thr)
|
rs121965030
|
|
NM_000203.5(IDUA):c.901G>C (p.Asp301His)
|
|
|
NM_000203.5(IDUA):c.903C>G (p.Asp301Glu)
|
rs759390416
|
|
NM_000203.5(IDUA):c.905del (p.Pro302fs)
|
rs2153022225
|
|
NM_000203.5(IDUA):c.910del (p.Val304fs)
|
rs2153022228
|
|
NM_000203.5(IDUA):c.911del (p.Val304fs)
|
rs2153022229
|
|
NM_000203.5(IDUA):c.936G>A (p.Trp312Ter)
|
rs1715123409
|
|
NM_000203.5(IDUA):c.954C>G (p.Tyr318Ter)
|
|
|
NM_000203.5(IDUA):c.956C>T (p.Ala319Val)
|
rs781534097
|
|
NM_000203.5(IDUA):c.965del (p.Val322fs)
|
rs2153022263
|
|
NM_000203.5(IDUA):c.972+1G>A
|
rs794727840
|
|
NM_000203.5(IDUA):c.98_99insGGTGGACGGTGCA (p.His33fs)
|
|
|
NM_000262.3(NAGA):c.1029C>A (p.Cys343Ter)
|
|
|
NM_000262.3(NAGA):c.1047T>G (p.Tyr349Ter)
|
|
|
NM_000262.3(NAGA):c.157C>T (p.Gln53Ter)
|
|
|
NM_000262.3(NAGA):c.319_322dup (p.Tyr108Ter)
|
|
|
NM_000262.3(NAGA):c.324C>A (p.Tyr108Ter)
|
|
|
NM_000262.3(NAGA):c.324del (p.Asp107_Tyr108insTer)
|
|
|
NM_000262.3(NAGA):c.354del (p.Tyr119fs)
|
|
|
NM_000262.3(NAGA):c.402_403del (p.Leu135fs)
|
|
|
NM_000262.3(NAGA):c.606_607del (p.Tyr202_Ser203delinsTer)
|
|
|
NM_000262.3(NAGA):c.635G>A (p.Trp212Ter)
|
|
|
NM_000262.3(NAGA):c.639dup (p.Asn214Ter)
|
|
|
NM_000262.3(NAGA):c.655C>T (p.Gln219Ter)
|
|
|
NM_000262.3(NAGA):c.665G>A (p.Trp222Ter)
|
|
|
NM_000262.3(NAGA):c.666G>A (p.Trp222Ter)
|
|
|
NM_000262.3(NAGA):c.70C>T (p.Gln24Ter)
|
|
|
NM_000262.3(NAGA):c.756_757del (p.Met253fs)
|
|
|
NM_000262.3(NAGA):c.793C>T (p.Gln265Ter)
|
|
|
NM_000262.3(NAGA):c.839del (p.Leu280fs)
|
|
|
NM_000262.3(NAGA):c.874C>T (p.Gln292Ter)
|
|
|
NM_000262.3(NAGA):c.968_969del (p.Leu323fs)
|
|
|
NM_000263.4(NAGLU):c.1006G>T (p.Glu336Ter)
|
rs376090795
|
|
NM_000263.4(NAGLU):c.1022-2A>G
|
|
|
NM_000263.4(NAGLU):c.1025del (p.Asp342fs)
|
|
|
NM_000263.4(NAGLU):c.1041G>A (p.Trp347Ter)
|
|
|
NM_000263.4(NAGLU):c.1063C>T (p.Gln355Ter)
|
|
|
NM_000263.4(NAGLU):c.1063del (p.Gln355fs)
|
rs1180591588
|
|
NM_000263.4(NAGLU):c.1088_1089dup (p.Ala364fs)
|
|
|
NM_000263.4(NAGLU):c.1093C>T (p.Gln365Ter)
|
rs1555622242
|
|
NM_000263.4(NAGLU):c.1163_1166dup (p.Val390fs)
|
rs2092925958
|
|
NM_000263.4(NAGLU):c.1173dup (p.Thr392fs)
|
rs2143108228
|
|
NM_000263.4(NAGLU):c.1177del (p.Arg393fs)
|
|
|
NM_000263.4(NAGLU):c.1211G>A (p.Trp404Ter)
|
rs904672363
|
|
NM_000263.4(NAGLU):c.1238del (p.Asn413fs)
|
|
|
NM_000263.4(NAGLU):c.1288_1289del (p.Ala430fs)
|
rs2092926507
|
|
NM_000263.4(NAGLU):c.1336G>A (p.Glu446Lys)
|
rs114625063
|
|
NM_000263.4(NAGLU):c.1336del (p.Glu446fs)
|
rs2143109467
|
|
NM_000263.4(NAGLU):c.1337A>G (p.Glu446Gly)
|
|
|
NM_000263.4(NAGLU):c.1348C>T (p.Gln450Ter)
|
|
|
NM_000263.4(NAGLU):c.1364A>G (p.Tyr455Cys)
|
rs375103824
|
|
NM_000263.4(NAGLU):c.136del (p.Ala46fs)
|
rs2143075902
|
|
NM_000263.4(NAGLU):c.1425del (p.Thr476fs)
|
rs1250949842
|
|
NM_000263.4(NAGLU):c.142T>C (p.Phe48Leu)
|
rs118204024
|
|
NM_000263.4(NAGLU):c.144C>A (p.Phe48Leu)
|
|
|
NM_000263.4(NAGLU):c.144C>G (p.Phe48Leu)
|
rs104894599
|
|
NM_000263.4(NAGLU):c.1453dup (p.Val485fs)
|
rs749338526
|
|
NM_000263.4(NAGLU):c.1460dup (p.His487fs)
|
rs2143110493
|
|
NM_000263.4(NAGLU):c.147del (p.Val50fs)
|
|
|
NM_000263.4(NAGLU):c.1482G>A (p.Trp494Ter)
|
|
|
NM_000263.4(NAGLU):c.1498_1517del (p.Ser500fs)
|
|
|
NM_000263.4(NAGLU):c.1570C>T (p.Gln524Ter)
|
rs2143111795
|
|
NM_000263.4(NAGLU):c.1674C>G (p.Tyr558Ter)
|
rs762031686
|
|
NM_000263.4(NAGLU):c.1675G>T (p.Asp559Tyr)
|
|
|
NM_000263.4(NAGLU):c.1682T>G (p.Leu561Arg)
|
rs2092928624
|
|
NM_000263.4(NAGLU):c.1690_1693del (p.Thr564fs)
|
|
|
NM_000263.4(NAGLU):c.1694G>C (p.Arg565Pro)
|
rs104894598
|
|
NM_000263.4(NAGLU):c.1694G>T (p.Arg565Leu)
|
rs104894598
|
|
NM_000263.4(NAGLU):c.1696C>T (p.Gln566Ter)
|
|
|
NM_000263.4(NAGLU):c.1773del (p.Leu591_Leu592insTer)
|
rs2143113566
|
|
NM_000263.4(NAGLU):c.1815_1821dup (p.Glu608fs)
|
rs2143113857
|
|
NM_000263.4(NAGLU):c.1863G>A (p.Trp621Ter)
|
rs1555622488
|
|
NM_000263.4(NAGLU):c.1918C>T (p.Gln640Ter)
|
|
|
NM_000263.4(NAGLU):c.1928G>A (p.Arg643His)
|
rs104894593
|
|
NM_000263.4(NAGLU):c.192del (p.Tyr65fs)
|
rs2092906340
|
|
NM_000263.4(NAGLU):c.1946G>T (p.Trp649Leu)
|
rs527236038
|
|
NM_000263.4(NAGLU):c.1A>G (p.Met1Val)
|
rs1325661354
|
|
NM_000263.4(NAGLU):c.2045T>G (p.Leu682Arg)
|
rs2092930339
|
|
NM_000263.4(NAGLU):c.2062C>T (p.Gln688Ter)
|
rs1195831432
|
|
NM_000263.4(NAGLU):c.2066del (p.Gly689fs)
|
|
|
NM_000263.4(NAGLU):c.2080C>T (p.Gln694Ter)
|
|
|
NM_000263.4(NAGLU):c.2099del (p.Asn700fs)
|
|
|
NM_000263.4(NAGLU):c.2113G>A (p.Glu705Lys)
|
rs1364203992
|
|
NM_000263.4(NAGLU):c.214_237del (p.Ala72_Gly79del)
|
rs1567890245
|
|
NM_000263.4(NAGLU):c.214_237dup (p.Ala72_Gly79dup)
|
rs1567890245
|
|
NM_000263.4(NAGLU):c.217_221dup (p.Val75fs)
|
rs1555621442
|
|
NM_000263.4(NAGLU):c.219_237del (p.Arg74fs)
|
rs1431589133
|
|
NM_000263.4(NAGLU):c.220dup (p.Arg74fs)
|
rs1555621448
|
|
NM_000263.4(NAGLU):c.222_223del (p.Val75fs)
|
rs2143076561
|
|
NM_000263.4(NAGLU):c.222_247del (p.Val75fs)
|
rs1201516783
|
|
NM_000263.4(NAGLU):c.235G>T (p.Gly79Cys)
|
|
|
NM_000263.4(NAGLU):c.237_244dup (p.Gly82fs)
|
|
|
NM_000263.4(NAGLU):c.252_265del (p.Ala86fs)
|
rs2143076795
|
|
NM_000263.4(NAGLU):c.2T>C (p.Met1Thr)
|
rs1013345784
|
|
NM_000263.4(NAGLU):c.2T>G (p.Met1Arg)
|
|
|
NM_000263.4(NAGLU):c.308G>A (p.Trp103Ter)
|
rs2092906864
|
|
NM_000263.4(NAGLU):c.309G>A (p.Trp103Ter)
|
rs1567890328
|
|
NM_000263.4(NAGLU):c.317_323del (p.Ser106fs)
|
rs2143077277
|
|
NM_000263.4(NAGLU):c.329dup (p.Pro111fs)
|
|
|
NM_000263.4(NAGLU):c.333_344del (p.Arg112_Pro115del)
|
|
|
NM_000263.4(NAGLU):c.343C>T (p.Pro115Ser)
|
rs758785463
|
|
NM_000263.4(NAGLU):c.34dup (p.Val12fs)
|
|
|
NM_000263.4(NAGLU):c.358G>T (p.Glu120Ter)
|
rs1445294968
|
|
NM_000263.4(NAGLU):c.367G>T (p.Glu123Ter)
|
rs796052123
|
|
NM_000263.4(NAGLU):c.387C>G (p.Tyr129Ter)
|
rs1453761645
|
|
NM_000263.4(NAGLU):c.3G>A (p.Met1Ile)
|
rs2143074939
|
|
NM_000263.4(NAGLU):c.408C>A (p.Cys136Ter)
|
|
|
NM_000263.4(NAGLU):c.441G>A (p.Trp147Ter)
|
rs2143082104
|
|
NM_000263.4(NAGLU):c.446del (p.Arg149fs)
|
|
|
NM_000263.4(NAGLU):c.449G>A (p.Trp150Ter)
|
|
|
NM_000263.4(NAGLU):c.454C>T (p.Arg152Ter)
|
rs1261241939
|
|
NM_000263.4(NAGLU):c.457G>A (p.Glu153Lys)
|
rs1352416909
|
|
NM_000263.4(NAGLU):c.457G>T (p.Glu153Ter)
|
|
|
NM_000263.4(NAGLU):c.480del (p.Asn160fs)
|
rs886039894
|
|
NM_000263.4(NAGLU):c.490del (p.Leu164fs)
|
|
|
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.503G>A (p.Trp168Ter)
|
rs398123281
|
|
NM_000263.4(NAGLU):c.507_516del (p.Ser169fs)
|
rs483352897
|
|
NM_000263.4(NAGLU):c.525G>A (p.Trp175Ter)
|
rs2143082538
|
|
NM_000263.4(NAGLU):c.54_60dup (p.Ala21fs)
|
rs2143075344
|
|
NM_000263.4(NAGLU):c.595del (p.Leu199fs)
|
|
|
NM_000263.4(NAGLU):c.59dup (p.Ala21fs)
|
rs1253870232
|
|
NM_000263.4(NAGLU):c.603G>A (p.Trp201Ter)
|
rs2143086665
|
|
NM_000263.4(NAGLU):c.623_626dup (p.Trp210fs)
|
rs2143086826
|
|
NM_000263.4(NAGLU):c.640dup (p.Leu214fs)
|
rs2143086910
|
|
NM_000263.4(NAGLU):c.641del (p.Leu214fs)
|
|
|
NM_000263.4(NAGLU):c.642dup (p.Pro215fs)
|
rs2092912932
|
|
NM_000263.4(NAGLU):c.648del (p.Ser217fs)
|
rs760370189
|
|
NM_000263.4(NAGLU):c.648dup (p.Ser217fs)
|
rs760370189
|
|
NM_000263.4(NAGLU):c.654G>A (p.Trp218Ter)
|
|
|
NM_000263.4(NAGLU):c.676C>T (p.Gln226Ter)
|
|
|
NM_000263.4(NAGLU):c.701G>C (p.Arg234Pro)
|
rs886042073
|
|
NM_000263.4(NAGLU):c.710_714dup (p.Thr239delinsAlaTer)
|
|
|
NM_000263.4(NAGLU):c.713del (p.Met238fs)
|
rs2143088088
|
|
NM_000263.4(NAGLU):c.71_87del (p.Asp24fs)
|
rs2143075470
|
|
NM_000263.4(NAGLU):c.736_748dup (p.Pro250fs)
|
|
|
NM_000263.4(NAGLU):c.741del (p.His248fs)
|
|
|
NM_000263.4(NAGLU):c.820del (p.Ser274fs)
|
rs1452185692
|
|
NM_000263.4(NAGLU):c.82dup (p.Glu28fs)
|
|
|
NM_000263.4(NAGLU):c.886del (p.Leu296fs)
|
rs752131463
|
|
NM_000263.4(NAGLU):c.902_903del (p.Lys301fs)
|
rs2092920511
|
|
NM_000263.4(NAGLU):c.926A>G (p.Tyr309Cys)
|
rs1305299665
|
|
NM_000263.4(NAGLU):c.953_957del (p.Gln318fs)
|
rs2143099555
|
|
NM_000263.4(NAGLU):c.956C>T (p.Pro319Leu)
|
|
|
NM_000263.4(NAGLU):c.998_1014del (p.Ala333fs)
|
|
|
NM_000284.4(PDHA1):c.1034_1037dup (p.Glu347fs)
|
rs1555935473
|
|
NM_000284.4(PDHA1):c.1043_1053del (p.Asp348fs)
|
|
|
NM_000284.4(PDHA1):c.1132C>T (p.Arg378Cys)
|
rs863224147
|
|
NM_000284.4(PDHA1):c.1133G>A (p.Arg378His)
|
rs137853250
|
|
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs)
|
rs606231189
|
|
NM_000284.4(PDHA1):c.1148G>A (p.Trp383Ter)
|
|
|
NM_000284.4(PDHA1):c.1159_1162dup (p.Ser388Ter)
|
rs863224156
|
|
NM_000284.4(PDHA1):c.214C>T (p.Arg72Cys)
|
rs863224148
|
|
NM_000284.4(PDHA1):c.292-1G>A
|
rs863224149
|
|
NM_000284.4(PDHA1):c.379C>T (p.Arg127Trp)
|
rs199959402
|
|
NM_000284.4(PDHA1):c.422G>A (p.Arg141Gln)
|
rs794729213
|
|
NM_000284.4(PDHA1):c.483C>T (p.Tyr161=)
|
rs398123300
|
|
NM_000284.4(PDHA1):c.491A>G (p.Asn164Ser)
|
rs1555933963
|
|
NM_000284.4(PDHA1):c.506C>T (p.Ala169Val)
|
rs863224150
|
|
NM_000284.4(PDHA1):c.515C>T (p.Pro172Leu)
|
|
|
NM_000284.4(PDHA1):c.523G>A (p.Ala175Thr)
|
rs1569191372
|
|
NM_000284.4(PDHA1):c.58-1G>A
|
rs1569189834
|
|
NM_000284.4(PDHA1):c.613T>C (p.Phe205Leu)
|
|
|
NM_000284.4(PDHA1):c.653G>A (p.Cys218Tyr)
|
|
|
NM_000284.4(PDHA1):c.687G>C (p.Met229Ile)
|
rs2063189233
|
|
NM_000284.4(PDHA1):c.688_700del (p.Gly230fs)
|
|
|
NM_000284.4(PDHA1):c.692C>G (p.Thr231Arg)
|
rs1272572107
|
|
NM_000284.4(PDHA1):c.787C>G (p.Arg263Gly)
|
rs137853259
|
|
NM_000284.4(PDHA1):c.788G>A (p.Arg263Gln)
|
|
|
NM_000284.4(PDHA1):c.862C>T (p.Arg288Cys)
|
rs2063213272
|
|
NM_000284.4(PDHA1):c.874_881dup (p.Met294fs)
|
rs2063213396
|
|
NM_000284.4(PDHA1):c.902_907del (p.Tyr301_Thr303delinsSer)
|
rs2147187199
|
|
NM_000284.4(PDHA1):c.904C>T (p.Arg302Cys)
|
rs137853252
|
|
NM_000284.4(PDHA1):c.905G>A (p.Arg302His)
|
rs1064794149
|
|
NM_000284.4(PDHA1):c.930AAG[1] (p.Arg311del)
|
rs1555935223
|
|
NM_000284.4(PDHA1):c.934_940del (p.Ser312fs)
|
rs606231185
|
|
NM_000284.4(PDHA1):c.934_992dup (p.Ser331delinsArgValArgValThrLeuLeuCysPheSerArgThrGlyTrpTer)
|
rs1602231539
|
|
NM_000284.4(PDHA1):c.937_940dup (p.Ser314fs)
|
rs137853251
|
|
NM_000284.4(PDHA1):c.956_959dup (p.Lys321fs)
|
|
|
NM_000289.6(PFKM):c.103dup (p.Arg35fs)
|
|
|
NM_000289.6(PFKM):c.1053del (p.Cys351fs)
|
|
|
NM_000289.6(PFKM):c.1057C>T (p.Gln353Ter)
|
|
|
NM_000289.6(PFKM):c.1091del (p.Glu364fs)
|
|
|
NM_000289.6(PFKM):c.1159del (p.Leu387fs)
|
|
|
NM_000289.6(PFKM):c.115C>T (p.Arg39Ter)
|
rs1064795749
|
|
NM_000289.6(PFKM):c.116G>C (p.Arg39Pro)
|
rs121918193
|
|
NM_000289.6(PFKM):c.1321G>T (p.Glu441Ter)
|
|
|
NM_000289.6(PFKM):c.1338del (p.Gln447fs)
|
rs2135995131
|
|
NM_000289.6(PFKM):c.1344_1345insAA (p.Glu449fs)
|
|
|
NM_000289.6(PFKM):c.1413-64A>G
|
rs1202417178
|
|
NM_000289.6(PFKM):c.1426A>T (p.Lys476Ter)
|
|
|
NM_000289.6(PFKM):c.1458dup (p.Lys487Ter)
|
|
|
NM_000289.6(PFKM):c.1607del (p.Gly535_Ser536insTer)
|
rs866260025
|
|
NM_000289.6(PFKM):c.1656del (p.Cys553fs)
|
|
|
NM_000289.6(PFKM):c.165T>A (p.Tyr55Ter)
|
rs2135856711
|
|
NM_000289.6(PFKM):c.1704del (p.Phe568fs)
|
rs2136019667
|
|
NM_000289.6(PFKM):c.1761del (p.Ala588fs)
|
rs2136020407
|
|
NM_000289.6(PFKM):c.1807C>T (p.Arg603Ter)
|
|
|
NM_000289.6(PFKM):c.1827del (p.Glu610fs)
|
|
|
NM_000289.6(PFKM):c.1828_1834del (p.Glu610fs)
|
|
|
NM_000289.6(PFKM):c.1929_1933del (p.Leu643_Tyr644insTer)
|
rs1592818641
|
|
NM_000289.6(PFKM):c.2003del (p.Pro668fs)
|
rs767095759
|
|
NM_000289.6(PFKM):c.2075_2076del (p.Lys692fs)
|
rs2136049056
|
|
NM_000289.6(PFKM):c.2080_2081del (p.Ser694fs)
|
rs1233958453
|
|
NM_000289.6(PFKM):c.21dup (p.Ala8fs)
|
|
|
NM_000289.6(PFKM):c.237+1G>C
|
rs202143236
|
|
NM_000289.6(PFKM):c.283C>T (p.Arg95Ter)
|
rs121918195
|
|
NM_000289.6(PFKM):c.290del (p.Gly97fs)
|
|
|
NM_000289.6(PFKM):c.381_385dup (p.Arg129fs)
|
rs2135886253
|
|
NM_000289.6(PFKM):c.589C>T (p.Gln197Ter)
|
|
|
NM_000289.6(PFKM):c.646dup (p.Ala216fs)
|
rs2135915377
|
|
NM_000289.6(PFKM):c.736C>T (p.Arg246Ter)
|
rs866904446
|
|
NM_000289.6(PFKM):c.74del (p.Gly25fs)
|
rs2137862074
|
|
NM_000289.6(PFKM):c.780_783del (p.Ile260fs)
|
|
|
NM_000289.6(PFKM):c.874del (p.Arg292fs)
|
rs1369841345
|
|
NM_000290.4(PGAM2):c.160del (p.Ile54fs)
|
|
|
NM_000290.4(PGAM2):c.173C>G (p.Ser58Ter)
|
|
|
NM_000290.4(PGAM2):c.234G>A (p.Trp78Ter)
|
|
|
NM_000290.4(PGAM2):c.533del (p.Gly178fs)
|
rs747947171
|
|
NM_000290.4(PGAM2):c.538C>T (p.Arg180Ter)
|
|
|
NM_000292.3(PHKA2):c.-9_2del (p.Met1fs)
|
rs1569344469
|
|
NM_000292.3(PHKA2):c.1054C>T (p.Arg352Ter)
|
rs1556007472
|
|
NM_000292.3(PHKA2):c.1174C>T (p.Arg392Ter)
|
|
|
NM_000292.3(PHKA2):c.1205G>A (p.Trp402Ter)
|
rs2048317403
|
|
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.1420C>T (p.Gln474Ter)
|
|
|
NM_000292.3(PHKA2):c.1502del (p.His501fs)
|
|
|
NM_000292.3(PHKA2):c.1546C>T (p.Gln516Ter)
|
rs1601739229
|
|
NM_000292.3(PHKA2):c.1794-8_1812del
|
rs1556000892
|
|
NM_000292.3(PHKA2):c.1A>G (p.Met1Val)
|
rs2148058081
|
|
NM_000292.3(PHKA2):c.2209C>T (p.Gln737Ter)
|
rs1569300538
|
|
NM_000292.3(PHKA2):c.2378_2379del (p.Thr793fs)
|
rs2147859879
|
|
NM_000292.3(PHKA2):c.2465del (p.Leu822fs)
|
rs1569298646
|
|
NM_000292.3(PHKA2):c.2509_2510insATGTATAAATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTATATTATAATAAAAAAAAAAAAAAAAAAATAACAATAAAATGAGATAAANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAGTGGAGGTCC (p.Leu837delinsHisValTer)
|
rs2147859144
|
|
NM_000292.3(PHKA2):c.2614G>T (p.Glu872Ter)
|
rs2147855177
|
|
NM_000292.3(PHKA2):c.2772_2782del (p.Met924fs)
|
rs1569297379
|
|
NM_000292.3(PHKA2):c.2783_2793del (p.Leu928fs)
|
|
|
NM_000292.3(PHKA2):c.3210_3212del (p.Arg1072del)
|
rs1555989523
|
|
NM_000292.3(PHKA2):c.3325del (p.Thr1109fs)
|
rs2147806873
|
|
NM_000292.3(PHKA2):c.3329_3336+6del
|
|
|
NM_000292.3(PHKA2):c.3331C>T (p.Arg1111Ter)
|
rs1601689006
|
|
NM_000292.3(PHKA2):c.3371_3377dup (p.Val1127fs)
|
rs2047492720
|
|
NM_000292.3(PHKA2):c.3377C>A (p.Ser1126Ter)
|
rs2047492649
|
|
NM_000292.3(PHKA2):c.3424_3425insT (p.Glu1142fs)
|
rs2047490848
|
|
NM_000292.3(PHKA2):c.3614C>T (p.Pro1205Leu)
|
rs137852288
|
|
NM_000292.3(PHKA2):c.584del (p.Pro195fs)
|
|
|
NM_000292.3(PHKA2):c.883C>T (p.Arg295Cys)
|
rs797045008
|
|
NM_000292.3(PHKA2):c.884G>A (p.Arg295His)
|
rs797044877
|
|
NM_000292.3(PHKA2):c.918+1G>A
|
rs1601760689
|
|
NM_000292.3(PHKA2):c.93del (p.Leu32fs)
|
rs2048744617
|
|
NM_000293.3(PHKB):c.1045_1049dup (p.Lys351fs)
|
|
|
NM_000293.3(PHKB):c.1089T>A (p.Cys363Ter)
|
|
|
NM_000293.3(PHKB):c.1162_1166dup (p.Gln389fs)
|
|
|
NM_000293.3(PHKB):c.1230T>G (p.Tyr410Ter)
|
|
|
NM_000293.3(PHKB):c.1257T>G (p.Tyr419Ter)
|
|
|
NM_000293.3(PHKB):c.1265del (p.Asn422fs)
|
|
|
NM_000293.3(PHKB):c.1265dup (p.Asn422fs)
|
|
|
NM_000293.3(PHKB):c.126del (p.Asn42fs)
|
|
|
NM_000293.3(PHKB):c.127G>T (p.Glu43Ter)
|
|
|
NM_000293.3(PHKB):c.1320del (p.Leu442fs)
|
|
|
NM_000293.3(PHKB):c.1331del (p.Gly444fs)
|
|
|
NM_000293.3(PHKB):c.1622dup (p.Ile543fs)
|
|
|
NM_000293.3(PHKB):c.1805_1808dup (p.Gln603fs)
|
|
|
NM_000293.3(PHKB):c.1969C>T (p.Gln657Ter)
|
rs34667348
|
|
NM_000293.3(PHKB):c.1972-2A>G
|
rs964263812
|
|
NM_000293.3(PHKB):c.1983_1984del (p.Gly662fs)
|
|
|
NM_000293.3(PHKB):c.2048dup (p.Ser684fs)
|
rs766592623
|
|
NM_000293.3(PHKB):c.2332del (p.Leu778fs)
|
|
|
NM_000293.3(PHKB):c.2345_2355del (p.Val782fs)
|
|
|
NM_000293.3(PHKB):c.2427+1045del
|
rs2151739379
|
|
NM_000293.3(PHKB):c.2427+996_2427+1000del
|
|
|
NM_000293.3(PHKB):c.2457del (p.Glu820fs)
|
rs1322527832
|
|
NM_000293.3(PHKB):c.2623C>T (p.Arg875Ter)
|
|
|
NM_000293.3(PHKB):c.2633G>A (p.Trp878Ter)
|
|
|
NM_000293.3(PHKB):c.2772G>A (p.Trp924Ter)
|
|
|
NM_000293.3(PHKB):c.2817dup (p.Gly940fs)
|
|
|
NM_000293.3(PHKB):c.2839C>T (p.Gln947Ter)
|
|
|
NM_000293.3(PHKB):c.2896-1G>T
|
|
|
NM_000293.3(PHKB):c.3038del (p.Asn1013fs)
|
|
|
NM_000293.3(PHKB):c.341dup (p.Glu115fs)
|
|
|
NM_000293.3(PHKB):c.369_370del (p.Gly124fs)
|
|
|
NM_000293.3(PHKB):c.496G>T (p.Glu166Ter)
|
|
|
NM_000293.3(PHKB):c.566del (p.Gly189fs)
|
|
|
NM_000293.3(PHKB):c.573_577del (p.Gln191fs)
|
rs1233197046
|
|
NM_000293.3(PHKB):c.713C>A (p.Ser238Ter)
|
|
|
NM_000293.3(PHKB):c.80C>G (p.Ser27Ter)
|
|
|
NM_000293.3(PHKB):c.856G>T (p.Glu286Ter)
|
|
|
NM_000293.3(PHKB):c.868_869del (p.Ser289_His290insTer)
|
|
|
NM_000293.3(PHKB):c.93del (p.Ser34fs)
|
|
|
NM_000293.3(PHKB):c.943C>T (p.Gln315Ter)
|
|
|
NM_000294.3(PHKG2):c.130C>T (p.Arg44Ter)
|
rs137853590
|
|
NM_000294.3(PHKG2):c.250del (p.Val84fs)
|
rs1567260747
|
|
NM_000294.3(PHKG2):c.265dup (p.His89fs)
|
|
|
NM_000294.3(PHKG2):c.318_319del (p.Val106_Phe107insTer)
|
rs1555467052
|
|
NM_000294.3(PHKG2):c.334_337del (p.Lys112fs)
|
|
|
NM_000294.3(PHKG2):c.385G>T (p.Glu129Ter)
|
|
|
NM_000294.3(PHKG2):c.454C>T (p.Arg152Ter)
|
rs772912966
|
|
NM_000294.3(PHKG2):c.53_54del (p.Lys18fs)
|
|
|
NM_000294.3(PHKG2):c.557-1_557delinsAG
|
rs2151310104
|
|
NM_000294.3(PHKG2):c.648-2_648del
|
|
|
NM_000294.3(PHKG2):c.671_672delinsAA (p.Phe224Ter)
|
rs1555467557
|
|
NM_000294.3(PHKG2):c.72C>A (p.Tyr24Ter)
|
|
|
NM_000294.3(PHKG2):c.745C>T (p.Gln249Ter)
|
rs2053428286
|
|
NM_000294.3(PHKG2):c.767del (p.Glu256fs)
|
|
|
NM_000294.3(PHKG2):c.827del (p.Pro276fs)
|
|
|
NM_000294.3(PHKG2):c.850C>T (p.Gln284Ter)
|
|
|
NM_000294.3(PHKG2):c.900G>A (p.Trp300Ter)
|
|
|
NM_000294.3(PHKG2):c.905_909del (p.Leu302fs)
|
|
|
NM_000308.4(CTSA):c.1005del (p.Ala336fs)
|
|
|
NM_000308.4(CTSA):c.1019dup (p.Tyr340Ter)
|
|
|
NM_000308.4(CTSA):c.1035C>A (p.Tyr345Ter)
|
|
|
NM_000308.4(CTSA):c.1063C>T (p.Gln355Ter)
|
|
|
NM_000308.4(CTSA):c.1105C>T (p.Gln369Ter)
|
|
|
NM_000308.4(CTSA):c.1106del (p.Gln369fs)
|
|
|
NM_000308.4(CTSA):c.112del (p.Leu38fs)
|
rs1241378191
|
|
NM_000308.4(CTSA):c.1215_1216insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGAGGGGCTCCTCACTTCCCAGAAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCATGGCCTGCAATTTC (p.Phe405_Met406insPhePhePhePhePhePheXaaXaaXaaXaaGluGlyLeuLeuThrSerGlnLysGlyArgProGlyArgGlyAlaProHisLeuProAspGlyAlaAlaGlyMetAlaCysAsnPhe)
|
|
|
NM_000308.4(CTSA):c.130C>T (p.Gln44Ter)
|
rs1311180360
|
|
NM_000308.4(CTSA):c.143del (p.Arg48fs)
|
|
|
NM_000308.4(CTSA):c.15_19dup (p.Pro7fs)
|
|
|
NM_000308.4(CTSA):c.230del (p.Pro77fs)
|
rs587779402
|
|
NM_000308.4(CTSA):c.242G>A (p.Trp81Ter)
|
|
|
NM_000308.4(CTSA):c.253_254dup (p.Pro86fs)
|
|
|
NM_000308.4(CTSA):c.275_278del (p.Asp92fs)
|
|
|
NM_000308.4(CTSA):c.31_34del (p.Leu11fs)
|
|
|
NM_000308.4(CTSA):c.350G>A (p.Trp117Ter)
|
|
|
NM_000308.4(CTSA):c.376del (p.Leu126fs)
|
|
|
NM_000308.4(CTSA):c.463G>T (p.Glu155Ter)
|
|
|
NM_000308.4(CTSA):c.518del (p.Phe173fs)
|
|
|
NM_000308.4(CTSA):c.625_626del (p.Ser209fs)
|
|
|
NM_000308.4(CTSA):c.692+3A>G
|
rs786200859
|
|
NM_000308.4(CTSA):c.768C>A (p.Cys256Ter)
|
rs767712946
|
|
NM_000308.4(CTSA):c.833_834del (p.Tyr278fs)
|
rs875989777
|
|
NM_000308.4(CTSA):c.843T>A (p.Cys281Ter)
|
|
|
NM_000308.4(CTSA):c.873T>G (p.Tyr291Ter)
|
|
|
NM_000308.4(CTSA):c.946C>T (p.Gln316Ter)
|
rs200565348
|
|
NM_000308.4(CTSA):c.94C>T (p.Gln32Ter)
|
|
|
NM_000308.4(CTSA):c.990dup (p.Cys331fs)
|
rs758642867
|
|
NM_000340.2(SLC2A2):c.1170+1G>T
|
rs1294679246
|
|
NM_000340.2(SLC2A2):c.1183del (p.Trp395fs)
|
|
|
NM_000340.2(SLC2A2):c.1280del (p.Phe427fs)
|
rs1386374799
|
|
NM_000340.2(SLC2A2):c.1359T>A (p.Cys453Ter)
|
rs1715182989
|
|
NM_000340.2(SLC2A2):c.1392T>A (p.Tyr464Ter)
|
|
|
NM_000340.2(SLC2A2):c.156_181dup (p.Ile61fs)
|
rs1447936042
|
|
NM_000340.2(SLC2A2):c.239del (p.Pro80fs)
|
rs769888108
|
|
NM_000340.2(SLC2A2):c.497-2A>G
|
rs1318756243
|
|
NM_000340.2(SLC2A2):c.625G>T (p.Glu209Ter)
|
rs1114167428
|
|
NM_000340.2(SLC2A2):c.682C>T (p.Arg228Ter)
|
rs773581866
|
|
NM_000340.2(SLC2A2):c.708_711del (p.Phe237fs)
|
rs1560035336
|
|
NM_000340.2(SLC2A2):c.970dup (p.Tyr324fs)
|
rs1560033414
|
|
NM_000343.4(SLC5A1):c.1230C>G (p.Tyr410Ter)
|
rs200206252
|
|
NM_000343.4(SLC5A1):c.1388T>A (p.Leu463Ter)
|
|
|
NM_000343.4(SLC5A1):c.1394_1395insT (p.Pro466fs)
|
rs2149496680
|
|
NM_000343.4(SLC5A1):c.1683G>A (p.Trp561Ter)
|
|
|
NM_000343.4(SLC5A1):c.673G>T (p.Glu225Ter)
|
|
|
NM_000343.4(SLC5A1):c.824del (p.Pro275fs)
|
|
|
NM_000402.4(G6PD):c.1147C>T (p.Pro383Ser)
|
rs137852333
|
|
NM_000402.4(G6PD):c.1192G>A (p.Glu398Lys)
|
rs387906468
|
|
NM_000402.4(G6PD):c.1249C>T (p.Arg417Cys)
|
rs137852334
|
|
NM_000402.4(G6PD):c.1250G>A (p.Arg417His)
|
rs137852321
|
|
NM_000402.4(G6PD):c.1268G>A (p.Arg423His)
|
rs137852316
|
|
NM_000402.4(G6PD):c.1466G>C (p.Arg489Pro)
|
rs72554665
|
|
NM_000402.4(G6PD):c.221C>G (p.Ala74Gly)
|
rs78478128
|
|
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>A (p.Arg228His)
|
rs137852332
|
|
NM_000404.4(GLB1):c.1010T>C (p.Leu337Pro)
|
rs752177002
|
|
NM_000404.4(GLB1):c.1038G>C (p.Lys346Asn)
|
rs749980306
|
|
NM_000404.4(GLB1):c.1040A>G (p.Tyr347Cys)
|
rs2125514041
|
|
NM_000404.4(GLB1):c.1077del (p.Val360fs)
|
rs727503952
|
|
NM_000404.4(GLB1):c.1142del (p.Lys381fs)
|
rs2125478934
|
|
NM_000404.4(GLB1):c.1144-2A>G
|
rs1553607014
|
|
NM_000404.4(GLB1):c.1147A>T (p.Lys383Ter)
|
|
|
NM_000404.4(GLB1):c.1147_1148del (p.Lys383fs)
|
|
|
NM_000404.4(GLB1):c.1174_1175del (p.Leu392fs)
|
rs398123348
|
|
NM_000404.4(GLB1):c.1191del (p.Ile398fs)
|
rs1559385898
|
|
NM_000404.4(GLB1):c.1225del (p.Gln408_Val409insTer)
|
|
|
NM_000404.4(GLB1):c.1231C>T (p.Gln411Ter)
|
|
|
NM_000404.4(GLB1):c.1233+1G>A
|
rs1553606984
|
|
NM_000404.4(GLB1):c.1279_1298del (p.Ser427fs)
|
|
|
NM_000404.4(GLB1):c.1298_1299del (p.Ser433fs)
|
rs1697335361
|
|
NM_000404.4(GLB1):c.1310A>T (p.Asn437Ile)
|
rs202237232
|
|
NM_000404.4(GLB1):c.1310del (p.Asn437fs)
|
rs2125469935
|
|
NM_000404.4(GLB1):c.1313G>A (p.Gly438Glu)
|
rs72555367
|
|
NM_000404.4(GLB1):c.1324C>T (p.Arg442Ter)
|
rs2125469895
|
|
NM_000404.4(GLB1):c.1336dup (p.Ala446fs)
|
rs2125469871
|
|
NM_000404.4(GLB1):c.1340_1341dup (p.Asp448fs)
|
|
|
NM_000404.4(GLB1):c.1387_1388del (p.Leu463fs)
|
|
|
NM_000404.4(GLB1):c.1388T>C (p.Leu463Pro)
|
rs2125467060
|
|
NM_000404.4(GLB1):c.1398_1399del (p.Gly467fs)
|
|
|
NM_000404.4(GLB1):c.1417del (p.Leu473fs)
|
|
|
NM_000404.4(GLB1):c.1441G>T (p.Gly481Ter)
|
|
|
NM_000404.4(GLB1):c.1456_1466dup (p.Ile489fs)
|
rs398123349
|
|
NM_000404.4(GLB1):c.1479+1G>C
|
rs1022476871
|
|
NM_000404.4(GLB1):c.1491_1492insTTTAAATTTATTTTATTGATAATTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGGTCATGGGACNNNNNNNNNNTTTTATTTTTTGAGACGGAGTCTTGCTCTGTTGTCTGGGTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCAGGGTTTGGTTTCTT (p.Ser497_Asn498insPheLysPheIleLeuLeuIleIleLeuGlyCysPheSerGlnArgGlyIleTrpGlnGlyHisGlyThrXaaXaaXaaPheTyrPheLeuArgArgSerLeuAlaLeuLeuSerGlyTrpSerAlaValValGlnSerArgLeuThrAlaThrArgValTrpPheLeu)
|
|
|
NM_000404.4(GLB1):c.1510_1511insGA (p.Asn504fs)
|
rs1553606128
|
|
NM_000404.4(GLB1):c.1527G>T (p.Trp509Cys)
|
rs72555363
|
|
NM_000404.4(GLB1):c.152T>A (p.Ile51Asn)
|
rs72555390
|
|
NM_000404.4(GLB1):c.152T>C (p.Ile51Thr)
|
rs72555390
|
|
NM_000404.4(GLB1):c.1574_1583del (p.Gly525fs)
|
rs2125463301
|
|
NM_000404.4(GLB1):c.1576_1583dup (p.His529fs)
|
rs2125463306
|
|
NM_000404.4(GLB1):c.1577del (p.Gly526fs)
|
|
|
NM_000404.4(GLB1):c.1577dup (p.Trp527fs)
|
rs794729217
|
|
NM_000404.4(GLB1):c.1582G>T (p.Gly528Ter)
|
|
|
NM_000404.4(GLB1):c.1583del (p.Gly528fs)
|
|
|
NM_000404.4(GLB1):c.1587_1590dup (p.Asp531delinsProTer)
|
rs2125463278
|
|
NM_000404.4(GLB1):c.1616G>A (p.Trp539Ter)
|
rs2125463197
|
|
NM_000404.4(GLB1):c.1634dup (p.Asn545fs)
|
rs754131566
|
|
NM_000404.4(GLB1):c.163del (p.Ile55fs)
|
rs1575475703
|
|
NM_000404.4(GLB1):c.1654dup (p.Tyr552fs)
|
|
|
NM_000404.4(GLB1):c.1697C>A (p.Pro566His)
|
rs1575410340
|
|
NM_000404.4(GLB1):c.1703A>G (p.Asp568Gly)
|
|
|
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.1728G>A (p.Trp576Ter)
|
|
|
NM_000404.4(GLB1):c.2006dup (p.Asn669fs)
|
rs759633494
|
|
NM_000404.4(GLB1):c.245+1G>C
|
rs778423653
|
|
NM_000404.4(GLB1):c.246-2A>G
|
rs2125548861
|
|
NM_000404.4(GLB1):c.248A>G (p.Tyr83Cys)
|
rs1553612220
|
|
NM_000404.4(GLB1):c.257G>A (p.Trp86Ter)
|
rs2125548844
|
|
NM_000404.4(GLB1):c.304C>G (p.His102Asp)
|
|
|
NM_000404.4(GLB1):c.344del (p.Gly115fs)
|
|
|
NM_000404.4(GLB1):c.397G>T (p.Gly133Ter)
|
rs2125547910
|
|
NM_000404.4(GLB1):c.401G>T (p.Gly134Val)
|
rs773562141
|
|
NM_000404.4(GLB1):c.424A>T (p.Lys142Ter)
|
rs776213501
|
|
NM_000404.4(GLB1):c.425_428del (p.Lys142fs)
|
rs1699765928
|
|
NM_000404.4(GLB1):c.426dup (p.Glu143fs)
|
|
|
NM_000404.4(GLB1):c.433_437del (p.Ile145fs)
|
rs1553612145
|
|
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.473del (p.Val158fs)
|
rs2125543662
|
|
NM_000404.4(GLB1):c.482G>A (p.Trp161Ter)
|
|
|
NM_000404.4(GLB1):c.485del (p.Leu162fs)
|
|
|
NM_000404.4(GLB1):c.495_497del (p.Leu166del)
|
rs754077128
|
|
NM_000404.4(GLB1):c.514CTC[1] (p.Leu173del)
|
|
|
NM_000404.4(GLB1):c.518T>C (p.Leu173Pro)
|
rs397515617
|
|
NM_000404.4(GLB1):c.51dup (p.Leu18fs)
|
rs398123356
|
|
NM_000404.4(GLB1):c.531_534del (p.Gly178fs)
|
rs1559408259
|
|
NM_000404.4(GLB1):c.550C>T (p.Gln184Ter)
|
|
|
NM_000404.4(GLB1):c.552+1G>A
|
|
|
NM_000404.4(GLB1):c.553-1G>C
|
rs1575459735
|
|
NM_000404.4(GLB1):c.553-2A>T
|
rs2125533195
|
|
NM_000404.4(GLB1):c.560dup (p.Asn187fs)
|
|
|
NM_000404.4(GLB1):c.562G>T (p.Glu188Ter)
|
|
|
NM_000404.4(GLB1):c.572G>A (p.Ser191Asn)
|
rs1553611055
|
|
NM_000404.4(GLB1):c.591del (p.Phe197fs)
|
|
|
NM_000404.4(GLB1):c.591dup (p.Asp198Ter)
|
rs2125533127
|
|
NM_000404.4(GLB1):c.65_75+1del
|
rs1382394474
|
|
NM_000404.4(GLB1):c.677del (p.Thr226fs)
|
|
|
NM_000404.4(GLB1):c.694dup (p.Ala232fs)
|
rs1553611025
|
|
NM_000404.4(GLB1):c.69_75+1del
|
|
|
NM_000404.4(GLB1):c.710A>G (p.Tyr237Cys)
|
|
|
NM_000404.4(GLB1):c.733+1G>A
|
rs1041204916
|
|
NM_000404.4(GLB1):c.733+2T>C
|
rs1699291583
|
|
NM_000404.4(GLB1):c.734-2A>G
|
rs1699088102
|
|
NM_000404.4(GLB1):c.769_792+13del
|
rs1282958432
|
|
NM_000404.4(GLB1):c.774T>A (p.Cys258Ter)
|
|
|
NM_000404.4(GLB1):c.785G>A (p.Gly262Glu)
|
|
|
NM_000404.4(GLB1):c.785G>T (p.Gly262Val)
|
|
|
NM_000404.4(GLB1):c.802G>C (p.Glu268Gln)
|
|
|
NM_000404.4(GLB1):c.817_818delinsCT (p.Trp273Leu)
|
rs1559401428
|
|
NM_000404.4(GLB1):c.819G>A (p.Trp273Ter)
|
rs1378338444
|
|
NM_000404.4(GLB1):c.833del (p.Gly278fs)
|
|
|
NM_000404.4(GLB1):c.846del (p.Thr283fs)
|
rs1553610382
|
|
NM_000404.4(GLB1):c.881_882del (p.Leu293_Tyr294insTer)
|
rs767704163
|
|
NM_000404.4(GLB1):c.900_903dup (p.Ser302fs)
|
rs1699008262
|
|
NM_000404.4(GLB1):c.938A>G (p.Asn313Ser)
|
|
|
NM_000404.4(GLB1):c.955+5G>A
|
|
|
NM_000404.4(GLB1):c.964_965del (p.Ser322fs)
|
rs1698734900
|
|
NM_000404.4(GLB1):c.982C>T (p.Pro328Ser)
|
rs1244404381
|
|
NM_000404.4(GLB1):c.994_995del (p.Asp332fs)
|
|
|
NM_000507.4(FBP1):c.127A>T (p.Lys43Ter)
|
rs2131509216
|
|
NM_000507.4(FBP1):c.131_132del (p.Ala44fs)
|
|
|
NM_000507.4(FBP1):c.282_289del (p.Leu95fs)
|
|
|
NM_000507.4(FBP1):c.325G>T (p.Glu109Ter)
|
|
|
NM_000507.4(FBP1):c.343_347del (p.Val115fs)
|
|
|
NM_000507.4(FBP1):c.426+1G>A
|
rs1563983184
|
|
NM_000507.4(FBP1):c.504T>A (p.Tyr168Ter)
|
|
|
NM_000507.4(FBP1):c.544del (p.Val182fs)
|
rs1827757538
|
|
NM_000507.4(FBP1):c.56dup (p.Met19fs)
|
|
|
NM_000507.4(FBP1):c.577G>T (p.Glu193Ter)
|
rs1563979243
|
|
NM_000507.4(FBP1):c.611_614del (p.Lys204fs)
|
rs761470205
|
|
NM_000507.4(FBP1):c.704del (p.Pro235fs)
|
rs774362519
|
|
NM_000507.4(FBP1):c.723T>G (p.Tyr241Ter)
|
|
|
NM_000507.4(FBP1):c.740dup (p.Ser248fs)
|
|
|
NM_000507.4(FBP1):c.779del (p.Gly260fs)
|
rs1554679825
|
|
NM_000507.4(FBP1):c.841G>A (p.Glu281Lys)
|
rs566453434
|
|
NM_000507.4(FBP1):c.846C>A (p.Cys282Ter)
|
|
|
NM_000507.4(FBP1):c.860_863dup (p.Met289fs)
|
|
|
NM_000507.4(FBP1):c.960del (p.Ser321fs)
|
|
|
NM_000507.4(FBP1):c.961dup (p.Ser321fs)
|
|
|
NM_000507.4(FBP1):c.966del (p.Asp323fs)
|
rs747269745
|
|
NM_000507.4(FBP1):c.986T>C (p.Leu329Pro)
|
rs1248299502
|
|
NM_000512.5(GALNS):c.-2_13del (p.Met1_Val5del)
|
|
|
NM_000512.5(GALNS):c.1003-3C>G
|
rs760239741
|
|
NM_000512.5(GALNS):c.100CTGCTC[1] (p.Leu36_Leu37del)
|
rs794726887
|
|
NM_000512.5(GALNS):c.1019G>A (p.Gly340Asp)
|
rs267606838
|
|
NM_000512.5(GALNS):c.1023C>A (p.Ser341Arg)
|
|
|
NM_000512.5(GALNS):c.1138A>G (p.Arg380Gly)
|
rs770908172
|
|
NM_000512.5(GALNS):c.1139+1G>A
|
rs765608680
|
|
NM_000512.5(GALNS):c.1142del (p.Pro381fs)
|
rs746086649
|
|
NM_000512.5(GALNS):c.1155C>A (p.Tyr385Ter)
|
rs1426905479
|
|
NM_000512.5(GALNS):c.115_116del (p.Asp39fs)
|
rs1967936031
|
|
NM_000512.5(GALNS):c.1169T>C (p.Leu390Pro)
|
rs2142993863
|
|
NM_000512.5(GALNS):c.116A>G (p.Asp39Gly)
|
rs1967935882
|
|
NM_000512.5(GALNS):c.1192del (p.His398fs)
|
rs1910636198
|
|
NM_000512.5(GALNS):c.1196A>G (p.Lys399Arg)
|
rs1267791852
|
|
NM_000512.5(GALNS):c.120+1G>A
|
rs911877265
|
|
NM_000512.5(GALNS):c.120+1G>C
|
rs911877265
|
|
NM_000512.5(GALNS):c.121-1G>T
|
rs1312522259
|
|
NM_000512.5(GALNS):c.121-2A>G
|
rs1567538216
|
|
NM_000512.5(GALNS):c.1259C>G (p.Pro420Arg)
|
rs752937387
|
|
NM_000512.5(GALNS):c.1264C>T (p.Gln422Ter)
|
rs1295162107
|
|
NM_000512.5(GALNS):c.1279del (p.Val427fs)
|
rs2142992372
|
|
NM_000512.5(GALNS):c.1289dup (p.His430fs)
|
|
|
NM_000512.5(GALNS):c.1298_1299insCTTTTCC (p.Glu433fs)
|
|
|
NM_000512.5(GALNS):c.1318_1319del (p.Leu440fs)
|
|
|
NM_000512.5(GALNS):c.1333G>T (p.Gly445Ter)
|
|
|
NM_000512.5(GALNS):c.1339G>A (p.Asp447Asn)
|
|
|
NM_000512.5(GALNS):c.1354T>A (p.Phe452Ile)
|
rs398123432
|
|
NM_000512.5(GALNS):c.1364+1G>A
|
rs773746427
|
|
NM_000512.5(GALNS):c.1365-1G>C
|
rs1909832718
|
|
NM_000512.5(GALNS):c.1401_1422dup (p.His475fs)
|
|
|
NM_000512.5(GALNS):c.1417C>T (p.Gln473Ter)
|
rs118204439
|
|
NM_000512.5(GALNS):c.143T>G (p.Val48Gly)
|
rs191519947
|
|
NM_000512.5(GALNS):c.1460A>G (p.Asn487Ser)
|
rs118204440
|
|
NM_000512.5(GALNS):c.1473G>A (p.Trp491Ter)
|
|
|
NM_000512.5(GALNS):c.1482+2T>C
|
|
|
NM_000512.5(GALNS):c.1488G>A (p.Trp496Ter)
|
|
|
NM_000512.5(GALNS):c.1515del (p.Lys506fs)
|
|
|
NM_000512.5(GALNS):c.1519T>C (p.Cys507Arg)
|
rs1567509070
|
|
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.1568A>G (p.Ter523Trp)
|
rs2142966615
|
|
NM_000512.5(GALNS):c.218A>G (p.Tyr73Cys)
|
rs398123435
|
|
NM_000512.5(GALNS):c.228C>A (p.Asn76Lys)
|
rs147599478
|
|
NM_000512.5(GALNS):c.230C>G (p.Pro77Arg)
|
rs1422505598
|
|
NM_000512.5(GALNS):c.239C>T (p.Ser80Leu)
|
rs1209154325
|
|
NM_000512.5(GALNS):c.251C>A (p.Ala84Glu)
|
rs141340188
|
|
NM_000512.5(GALNS):c.294C>A (p.Tyr98Ter)
|
|
|
NM_000512.5(GALNS):c.2T>C (p.Met1Thr)
|
|
|
NM_000512.5(GALNS):c.319+2T>C
|
rs2143005067
|
|
NM_000512.5(GALNS):c.320-1G>C
|
rs1245504167
|
|
NM_000512.5(GALNS):c.346G>A (p.Gly116Ser)
|
rs1444754604
|
|
NM_000512.5(GALNS):c.347G>T (p.Gly116Val)
|
rs1966945369
|
|
NM_000512.5(GALNS):c.364C>T (p.Gln122Ter)
|
|
|
NM_000512.5(GALNS):c.374C>T (p.Pro125Leu)
|
rs746949976
|
|
NM_000512.5(GALNS):c.405_422+1del
|
rs398123437
|
|
NM_000512.5(GALNS):c.423-11_425del
|
|
|
NM_000512.5(GALNS):c.423-1G>A
|
rs2143002474
|
|
NM_000512.5(GALNS):c.454del (p.Pro151_Leu152insTer)
|
|
|
NM_000512.5(GALNS):c.467T>G (p.Phe156Cys)
|
rs1301146300
|
|
NM_000512.5(GALNS):c.485C>A (p.Ser162Tyr)
|
|
|
NM_000512.5(GALNS):c.489del (p.Asn164fs)
|
rs1328983959
|
|
NM_000512.5(GALNS):c.491A>C (p.Asn164Thr)
|
rs761725425
|
|
NM_000512.5(GALNS):c.491A>G (p.Asn164Ser)
|
rs761725425
|
|
NM_000512.5(GALNS):c.493_531del (p.Cys165_Asn177del)
|
|
|
NM_000512.5(GALNS):c.510T>A (p.Tyr170Ter)
|
|
|
NM_000512.5(GALNS):c.552G>A (p.Trp184Ter)
|
|
|
NM_000512.5(GALNS):c.562G>A (p.Gly188Ser)
|
rs2143002317
|
|
NM_000512.5(GALNS):c.570T>G (p.Tyr190Ter)
|
|
|
NM_000512.5(GALNS):c.604del (p.Glu202fs)
|
rs1382823339
|
|
NM_000512.5(GALNS):c.611A>G (p.Asn204Ser)
|
rs569725936
|
|
NM_000512.5(GALNS):c.631C>T (p.Gln211Ter)
|
rs1912124497
|
|
NM_000512.5(GALNS):c.675dup (p.Phe226fs)
|
|
|
NM_000512.5(GALNS):c.685T>C (p.Tyr229His)
|
|
|
NM_000512.5(GALNS):c.704C>A (p.Thr235Lys)
|
rs398123440
|
|
NM_000512.5(GALNS):c.711_714dup (p.Val239fs)
|
rs2143001391
|
|
NM_000512.5(GALNS):c.715G>T (p.Val239Phe)
|
rs145131011
|
|
NM_000512.5(GALNS):c.725C>G (p.Ser242Cys)
|
rs2143001380
|
|
NM_000512.5(GALNS):c.751C>T (p.Arg251Ter)
|
rs1275386976
|
|
NM_000512.5(GALNS):c.758+1G>A
|
rs1363382746
|
|
NM_000512.5(GALNS):c.761A>G (p.Tyr254Cys)
|
rs2143001210
|
|
NM_000512.5(GALNS):c.762T>G (p.Tyr254Ter)
|
|
|
NM_000512.5(GALNS):c.77dup (p.Ala27fs)
|
rs2143013573
|
|
NM_000512.5(GALNS):c.817C>T (p.Gln273Ter)
|
rs2143001165
|
|
NM_000512.5(GALNS):c.824T>C (p.Leu275Pro)
|
rs2143001162
|
|
NM_000512.5(GALNS):c.841_867del (p.Thr281_Asn289del)
|
rs1567530426
|
|
NM_000512.5(GALNS):c.850TTC[1] (p.Phe285del)
|
rs768664270
|
|
NM_000512.5(GALNS):c.866A>G (p.Asn289Ser)
|
rs1465096387
|
|
NM_000512.5(GALNS):c.892G>T (p.Glu298Ter)
|
rs767319971
|
|
NM_000512.5(GALNS):c.899-2A>C
|
rs1165218506
|
|
NM_000512.5(GALNS):c.934A>T (p.Thr312Ser)
|
rs2142999186
|
|
NM_000512.5(GALNS):c.93del (p.Asn32fs)
|
|
|
NM_000512.5(GALNS):c.949G>C (p.Gly317Arg)
|
rs556060696
|
|
NM_000512.5(GALNS):c.95A>C (p.Asn32Thr)
|
rs773933657
|
|
NM_000528.4(MAN2B1):c.103_106del (p.Leu35fs)
|
|
|
NM_000528.4(MAN2B1):c.1048dup (p.His350fs)
|
rs2145262260
|
|
NM_000528.4(MAN2B1):c.105_106del (p.Cys36fs)
|
rs2024251717
|
|
NM_000528.4(MAN2B1):c.1068dup (p.Ala357fs)
|
rs2024028589
|
|
NM_000528.4(MAN2B1):c.1081del (p.Trp361fs)
|
rs2145261994
|
|
NM_000528.4(MAN2B1):c.1109G>A (p.Trp370Ter)
|
rs786204715
|
|
NM_000528.4(MAN2B1):c.1132_1133del (p.Phe378fs)
|
|
|
NM_000528.4(MAN2B1):c.1140C>A (p.Tyr380Ter)
|
rs767768982
|
|
NM_000528.4(MAN2B1):c.1148del (p.Gly383fs)
|
|
|
NM_000528.4(MAN2B1):c.1156C>T (p.Gln386Ter)
|
|
|
NM_000528.4(MAN2B1):c.1164G>A (p.Trp388Ter)
|
|
|
NM_000528.4(MAN2B1):c.1197dup (p.Arg400fs)
|
rs753695099
|
|
NM_000528.4(MAN2B1):c.1203C>G (p.Tyr401Ter)
|
rs781291011
|
|
NM_000528.4(MAN2B1):c.1204G>T (p.Glu402Ter)
|
|
|
NM_000528.4(MAN2B1):c.1223del (p.Phe408fs)
|
rs2024020274
|
|
NM_000528.4(MAN2B1):c.1228C>T (p.Gln410Ter)
|
rs2024019978
|
|
NM_000528.4(MAN2B1):c.1278del (p.Tyr428fs)
|
|
|
NM_000528.4(MAN2B1):c.1284T>G (p.Tyr428Ter)
|
rs2024014272
|
|
NM_000528.4(MAN2B1):c.131del (p.Ala44fs)
|
|
|
NM_000528.4(MAN2B1):c.1351_1366dup (p.His456fs)
|
rs2145256864
|
|
NM_000528.4(MAN2B1):c.1383C>A (p.Tyr461Ter)
|
rs775200333
|
|
NM_000528.4(MAN2B1):c.1383C>G (p.Tyr461Ter)
|
rs775200333
|
|
NM_000528.4(MAN2B1):c.1388_1389del (p.Arg463fs)
|
rs771647137
|
|
NM_000528.4(MAN2B1):c.1404dup (p.Trp469fs)
|
rs1599350640
|
|
NM_000528.4(MAN2B1):c.145dup (p.Ala49fs)
|
|
|
NM_000528.4(MAN2B1):c.1468_1469del (p.Phe490fs)
|
rs2145254277
|
|
NM_000528.4(MAN2B1):c.1477del (p.Cys493fs)
|
|
|
NM_000528.4(MAN2B1):c.1527+1G>T
|
|
|
NM_000528.4(MAN2B1):c.1527+2T>G
|
rs2145254041
|
|
NM_000528.4(MAN2B1):c.1534del (p.Val512fs)
|
rs2023968643
|
|
NM_000528.4(MAN2B1):c.1545T>G (p.Tyr515Ter)
|
|
|
NM_000528.4(MAN2B1):c.1583_1599dup (p.Val534fs)
|
|
|
NM_000528.4(MAN2B1):c.161_162del (p.Thr54fs)
|
rs2145290975
|
|
NM_000528.4(MAN2B1):c.1667_1670del (p.Asp556fs)
|
|
|
NM_000528.4(MAN2B1):c.166_175del (p.Pro56fs)
|
rs2145290929
|
|
NM_000528.4(MAN2B1):c.1801del (p.Trp601fs)
|
rs2145250113
|
|
NM_000528.4(MAN2B1):c.1802G>A (p.Trp601Ter)
|
rs2145250103
|
|
NM_000528.4(MAN2B1):c.1858dup (p.Thr620fs)
|
|
|
NM_000528.4(MAN2B1):c.1928G>A (p.Trp643Ter)
|
rs1599344532
|
|
NM_000528.4(MAN2B1):c.1929G>A (p.Trp643Ter)
|
rs398123455
|
|
NM_000528.4(MAN2B1):c.1954G>T (p.Glu652Ter)
|
rs756680048
|
|
NM_000528.4(MAN2B1):c.1963C>T (p.Gln655Ter)
|
rs2023854692
|
|
NM_000528.4(MAN2B1):c.1963del (p.Gln655fs)
|
|
|
NM_000528.4(MAN2B1):c.1999C>T (p.Gln667Ter)
|
|
|
NM_000528.4(MAN2B1):c.2113_2114delinsTA (p.Pro705Ter)
|
|
|
NM_000528.4(MAN2B1):c.2117_2121dup (p.Arg708fs)
|
|
|
NM_000528.4(MAN2B1):c.212_215del (p.Thr71fs)
|
rs2145290731
|
|
NM_000528.4(MAN2B1):c.215A>T (p.His72Leu)
|
rs387906261
|
|
NM_000528.4(MAN2B1):c.2165+1G>A
|
rs80338679
|
|
NM_000528.4(MAN2B1):c.2174G>A (p.Trp725Ter)
|
rs2023804275
|
|
NM_000528.4(MAN2B1):c.2175G>A (p.Trp725Ter)
|
rs1392422167
|
|
NM_000528.4(MAN2B1):c.2237_2240del (p.Asp746fs)
|
|
|
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp)
|
rs80338680
|
|
NM_000528.4(MAN2B1):c.2272del (p.Asp758fs)
|
rs2023782686
|
|
NM_000528.4(MAN2B1):c.2279_2280del (p.Arg760fs)
|
|
|
NM_000528.4(MAN2B1):c.2289_2295dup (p.Asn766fs)
|
|
|
NM_000528.4(MAN2B1):c.2300_2301insAA (p.Thr768fs)
|
|
|
NM_000528.4(MAN2B1):c.237_238del (p.Lys79fs)
|
rs2145290586
|
|
NM_000528.4(MAN2B1):c.2402dup (p.Ser802fs)
|
rs797044680
|
|
NM_000528.4(MAN2B1):c.2414_2417del (p.Arg805fs)
|
rs1347035611
|
|
NM_000528.4(MAN2B1):c.241del (p.Val81fs)
|
|
|
NM_000528.4(MAN2B1):c.2437-2A>C
|
|
|
NM_000528.4(MAN2B1):c.2437-2A>G
|
rs1445197546
|
|
NM_000528.4(MAN2B1):c.2469_2478del (p.Gly824fs)
|
rs2145225759
|
|
NM_000528.4(MAN2B1):c.247C>T (p.Gln83Ter)
|
rs2024217737
|
|
NM_000528.4(MAN2B1):c.2511G>A (p.Trp837Ter)
|
|
|
NM_000528.4(MAN2B1):c.2512_2513insGGCGCGGG (p.Val838fs)
|
rs2145225515
|
|
NM_000528.4(MAN2B1):c.252C>A (p.Tyr84Ter)
|
|
|
NM_000528.4(MAN2B1):c.2534_2558del (p.Leu845fs)
|
rs2145225250
|
|
NM_000528.4(MAN2B1):c.2555_2586del (p.Ala852fs)
|
|
|
NM_000528.4(MAN2B1):c.2559_2575del (p.Ala854fs)
|
rs2023745479
|
|
NM_000528.4(MAN2B1):c.256dup (p.Tyr86fs)
|
rs2024217430
|
|
NM_000528.4(MAN2B1):c.2604_2605del (p.Gln868fs)
|
|
|
NM_000528.4(MAN2B1):c.2647del (p.Ala883fs)
|
rs2145224416
|
|
NM_000528.4(MAN2B1):c.2669C>G (p.Ser890Ter)
|
rs1406466561
|
|
NM_000528.4(MAN2B1):c.2692_2737del (p.Pro898fs)
|
|
|
NM_000528.4(MAN2B1):c.2696C>A (p.Ser899Ter)
|
rs767323371
|
|
NM_000528.4(MAN2B1):c.2748_2751del (p.Leu917fs)
|
rs2145221516
|
|
NM_000528.4(MAN2B1):c.2802dup (p.Val935fs)
|
rs1057516864
|
|
NM_000528.4(MAN2B1):c.2885_2898del (p.Arg962fs)
|
|
|
NM_000528.4(MAN2B1):c.2887G>T (p.Glu963Ter)
|
rs757072948
|
|
NM_000528.4(MAN2B1):c.292C>T (p.Gln98Ter)
|
rs2024210372
|
|
NM_000528.4(MAN2B1):c.293dup (p.Tyr99fs)
|
rs1735642901
|
|
NM_000528.4(MAN2B1):c.323_324delinsAA (p.Leu108Ter)
|
rs2145289566
|
|
NM_000528.4(MAN2B1):c.343dup (p.Arg115fs)
|
|
|
NM_000528.4(MAN2B1):c.388C>T (p.Gln130Ter)
|
rs1366682636
|
|
NM_000528.4(MAN2B1):c.406C>T (p.Gln136Ter)
|
|
|
NM_000528.4(MAN2B1):c.418C>T (p.Arg140Ter)
|
rs370803545
|
|
NM_000528.4(MAN2B1):c.426del (p.Val143fs)
|
rs2024205685
|
|
NM_000528.4(MAN2B1):c.437-1dup
|
rs1160557969
|
|
NM_000528.4(MAN2B1):c.465G>A (p.Trp155Ter)
|
|
|
NM_000528.4(MAN2B1):c.466del (p.Trp155_Val156insTer)
|
rs2024192356
|
|
NM_000528.4(MAN2B1):c.469del (p.Val156_Met157insTer)
|
|
|
NM_000528.4(MAN2B1):c.484_487dup (p.Thr163fs)
|
rs2145287284
|
|
NM_000528.4(MAN2B1):c.495C>A (p.Tyr165Ter)
|
rs771479314
|
|
NM_000528.4(MAN2B1):c.511C>T (p.Gln171Ter)
|
|
|
NM_000528.4(MAN2B1):c.522del (p.Leu176fs)
|
|
|
NM_000528.4(MAN2B1):c.53_54insT (p.Ala19fs)
|
rs1057516810
|
|
NM_000528.4(MAN2B1):c.53_69dup (p.Met24fs)
|
rs2145294424
|
|
NM_000528.4(MAN2B1):c.561del (p.Arg188fs)
|
rs770297337
|
|
NM_000528.4(MAN2B1):c.603_604del (p.Arg202fs)
|
|
|
NM_000528.4(MAN2B1):c.603_604dup (p.Arg202fs)
|
|
|
NM_000528.4(MAN2B1):c.627_630+1dup
|
rs2145286437
|
|
NM_000528.4(MAN2B1):c.664_667del (p.Asp222fs)
|
|
|
NM_000528.4(MAN2B1):c.66G>A (p.Trp22Ter)
|
rs2145294443
|
|
NM_000528.4(MAN2B1):c.670_671del (p.Gln224fs)
|
|
|
NM_000528.4(MAN2B1):c.681G>A (p.Trp227Ter)
|
|
|
NM_000528.4(MAN2B1):c.783C>A (p.Tyr261Ter)
|
rs2024155693
|
|
NM_000528.4(MAN2B1):c.856G>T (p.Glu286Ter)
|
|
|
NM_000528.4(MAN2B1):c.896dup (p.Ala300fs)
|
rs2024151949
|
|
NM_000528.4(MAN2B1):c.965_966del (p.Gln321_Tyr322insTer)
|
rs778131120
|
|
NM_000528.4(MAN2B1):c.979_980del (p.Met327fs)
|
rs2145272932
|
|
NM_000528.4(MAN2B1):c.9del (p.Tyr4fs)
|
rs2145294851
|
|
NM_000642.3(AGL):c.1000dup (p.Thr334fs)
|
rs1553185302
|
|
NM_000642.3(AGL):c.1002_1005dup (p.Ile336fs)
|
|
|
NM_000642.3(AGL):c.1017del (p.Glu340fs)
|
|
|
NM_000642.3(AGL):c.1020del (p.Glu340fs)
|
rs1651357012
|
|
NM_000642.3(AGL):c.1041dup (p.Val348fs)
|
rs2101126325
|
|
NM_000642.3(AGL):c.104T>G (p.Leu35Ter)
|
rs1057516567
|
|
NM_000642.3(AGL):c.1102del (p.Glu368fs)
|
rs1553185403
|
|
NM_000642.3(AGL):c.1107del (p.Glu369fs)
|
|
|
NM_000642.3(AGL):c.1142_1150del (p.Leu381_Glu384delinsTer)
|
|
|
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.1175del (p.His392fs)
|
rs2101128055
|
|
NM_000642.3(AGL):c.1180G>T (p.Glu394Ter)
|
rs1570433686
|
|
NM_000642.3(AGL):c.1183C>T (p.Gln395Ter)
|
|
|
NM_000642.3(AGL):c.118C>T (p.Gln40Ter)
|
rs771961377
|
|
NM_000642.3(AGL):c.1218T>G (p.Tyr406Ter)
|
|
|
NM_000642.3(AGL):c.1230_1233del (p.Gly411fs)
|
rs1553185474
|
|
NM_000642.3(AGL):c.1243A>T (p.Lys415Ter)
|
rs2101128697
|
|
NM_000642.3(AGL):c.1253dup (p.Val419fs)
|
|
|
NM_000642.3(AGL):c.1258_1265del (p.Thr420fs)
|
|
|
NM_000642.3(AGL):c.133dup (p.Thr45fs)
|
|
|
NM_000642.3(AGL):c.1375_1378del (p.Asn459fs)
|
rs1651548991
|
|
NM_000642.3(AGL):c.1384del (p.Trp461_Val462insTer)
|
rs786204678
|
|
NM_000642.3(AGL):c.1405C>T (p.Arg469Ter)
|
rs766536350
|
|
NM_000642.3(AGL):c.1413_1416del (p.Phe471fs)
|
|
|
NM_000642.3(AGL):c.1423+1G>C
|
rs751952198
|
|
NM_000642.3(AGL):c.1423+1G>T
|
rs751952198
|
|
NM_000642.3(AGL):c.1437C>A (p.Tyr479Ter)
|
rs140095668
|
|
NM_000642.3(AGL):c.1468_1469del (p.Ser490fs)
|
|
|
NM_000642.3(AGL):c.148dup (p.Tyr50fs)
|
|
|
NM_000642.3(AGL):c.1497_1500dup (p.Asp501fs)
|
rs1204840140
|
|
NM_000642.3(AGL):c.1497del (p.Glu500fs)
|
|
|
NM_000642.3(AGL):c.1505_1514del (p.Cys502fs)
|
rs2101136443
|
|
NM_000642.3(AGL):c.1513dup (p.Leu505fs)
|
|
|
NM_000642.3(AGL):c.1533dup (p.Tyr512fs)
|
rs776733170
|
|
NM_000642.3(AGL):c.1537_1538del (p.Tyr512_Thr513insTer)
|
rs2101136597
|
|
NM_000642.3(AGL):c.1565del (p.Gly522fs)
|
rs1570438459
|
|
NM_000642.3(AGL):c.1589C>G (p.Ser530Ter)
|
rs1553185905
|
|
NM_000642.3(AGL):c.158del (p.Pro53fs)
|
rs1650040391
|
|
NM_000642.3(AGL):c.1639C>T (p.Gln547Ter)
|
rs2101145154
|
|
NM_000642.3(AGL):c.1649T>G (p.Leu550Ter)
|
rs1651872905
|
|
NM_000642.3(AGL):c.1688delinsGA (p.Leu563fs)
|
rs1651876879
|
|
NM_000642.3(AGL):c.168_169del (p.Thr56_Phe57insTer)
|
|
|
NM_000642.3(AGL):c.1692del (p.Asp564fs)
|
rs1651877300
|
|
NM_000642.3(AGL):c.1700_1701del (p.Phe567fs)
|
|
|
NM_000642.3(AGL):c.1717dup (p.Ile573fs)
|
rs1651880905
|
|
NM_000642.3(AGL):c.1727T>G (p.Leu576Ter)
|
rs1651881949
|
|
NM_000642.3(AGL):c.1735+1_1735+15del
|
rs1651883514
|
|
NM_000642.3(AGL):c.175del (p.Arg59fs)
|
rs2101084835
|
|
NM_000642.3(AGL):c.1830del (p.Arg610fs)
|
rs2101148971
|
|
NM_000642.3(AGL):c.1858_1859del (p.Leu620fs)
|
|
|
NM_000642.3(AGL):c.1866_1869dup (p.Ile624fs)
|
rs2101149228
|
|
NM_000642.3(AGL):c.18_19del (p.Gln6fs)
|
rs113994127
|
|
NM_000642.3(AGL):c.1907C>G (p.Ser636Ter)
|
|
|
NM_000642.3(AGL):c.1942dup (p.Ser648fs)
|
rs2100758555
|
|
NM_000642.3(AGL):c.1972A>T (p.Arg658Ter)
|
|
|
NM_000642.3(AGL):c.2001+5G>A
|
rs1553186489
|
|
NM_000642.3(AGL):c.2024_2033del (p.Arg675fs)
|
rs1652003965
|
|
NM_000642.3(AGL):c.2036del (p.Lys679fs)
|
rs2100759432
|
|
NM_000642.3(AGL):c.206dup (p.Asn69fs)
|
|
|
NM_000642.3(AGL):c.2094_2127del (p.Ile699fs)
|
rs2100759667
|
|
NM_000642.3(AGL):c.2144del (p.Lys715fs)
|
rs1652017784
|
|
NM_000642.3(AGL):c.214_215del (p.Glu72fs)
|
rs754978531
|
|
NM_000642.3(AGL):c.2151del (p.Phe717fs)
|
|
|
NM_000642.3(AGL):c.2155C>T (p.Gln719Ter)
|
rs1652018859
|
|
NM_000642.3(AGL):c.2157+1G>T
|
|
|
NM_000642.3(AGL):c.2167_2179del (p.Asp723fs)
|
|
|
NM_000642.3(AGL):c.2204_2205del (p.His735fs)
|
|
|
NM_000642.3(AGL):c.2221C>T (p.Gln741Ter)
|
|
|
NM_000642.3(AGL):c.223_224del (p.Glu74_Asp75insTer)
|
rs767346840
|
|
NM_000642.3(AGL):c.2278del (p.Ser760fs)
|
rs1057517136
|
|
NM_000642.3(AGL):c.2346del (p.Ile782fs)
|
rs2100768023
|
|
NM_000642.3(AGL):c.2349_2352del (p.Arg784fs)
|
|
|
NM_000642.3(AGL):c.2351_2352del (p.Arg784fs)
|
|
|
NM_000642.3(AGL):c.2353_2354del (p.Asn785fs)
|
|
|
NM_000642.3(AGL):c.2362_2392dup (p.Gly798delinsAlaLeuTer)
|
|
|
NM_000642.3(AGL):c.2384C>A (p.Ser795Ter)
|
rs1206517501
|
|
NM_000642.3(AGL):c.2397dup (p.Pro800fs)
|
|
|
NM_000642.3(AGL):c.2457_2460del (p.Gln820fs)
|
rs1553187237
|
|
NM_000642.3(AGL):c.2458C>T (p.Gln820Ter)
|
|
|
NM_000642.3(AGL):c.2494dup (p.Ile832fs)
|
rs2100768945
|
|
NM_000642.3(AGL):c.2500del (p.Glu834fs)
|
|
|
NM_000642.3(AGL):c.251dup (p.Asn84fs)
|
rs756175624
|
|
NM_000642.3(AGL):c.2538dup (p.Ile847fs)
|
rs1057516984
|
|
NM_000642.3(AGL):c.2546+1G>A
|
|
|
NM_000642.3(AGL):c.2578del (p.Val860fs)
|
|
|
NM_000642.3(AGL):c.2605C>T (p.Gln869Ter)
|
rs1057516254
|
|
NM_000642.3(AGL):c.2670del (p.Pro891fs)
|
rs764591009
|
|
NM_000642.3(AGL):c.2681+1G>T
|
rs201201443
|
|
NM_000642.3(AGL):c.2681+2T>G
|
|
|
NM_000642.3(AGL):c.2682-8A>G
|
|
|
NM_000642.3(AGL):c.2690_2691dup (p.Arg898fs)
|
|
|
NM_000642.3(AGL):c.2707G>T (p.Glu903Ter)
|
|
|
NM_000642.3(AGL):c.2727C>G (p.Tyr909Ter)
|
rs1239498701
|
|
NM_000642.3(AGL):c.2793del (p.Lys932fs)
|
rs2100779184
|
|
NM_000642.3(AGL):c.2799T>G (p.Tyr933Ter)
|
rs767529587
|
|
NM_000642.3(AGL):c.2823dup (p.Val942fs)
|
rs1652870529
|
|
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.293+1G>T
|
|
|
NM_000642.3(AGL):c.2936del (p.Gly979fs)
|
|
|
NM_000642.3(AGL):c.2960G>A (p.Trp987Ter)
|
rs1652906180
|
|
NM_000642.3(AGL):c.2963del (p.Leu988fs)
|
rs1313973421
|
|
NM_000642.3(AGL):c.3003C>A (p.Tyr1001Ter)
|
|
|
NM_000642.3(AGL):c.3011del (p.Pro1004fs)
|
rs1057516306
|
|
NM_000642.3(AGL):c.3033_3036del (p.Ile1012fs)
|
|
|
NM_000642.3(AGL):c.3049dup (p.Thr1017fs)
|
rs1557772907
|
|
NM_000642.3(AGL):c.3088del (p.Val1030fs)
|
|
|
NM_000642.3(AGL):c.3091C>T (p.Gln1031Ter)
|
|
|
NM_000642.3(AGL):c.3110_3111dup (p.Lys1038Ter)
|
|
|
NM_000642.3(AGL):c.3133_3137del (p.Val1045fs)
|
|
|
NM_000642.3(AGL):c.3179C>G (p.Ser1060Ter)
|
rs774926455
|
|
NM_000642.3(AGL):c.3192_3197delinsTTCACCTA (p.Met1064fs)
|
|
|
NM_000642.3(AGL):c.3204_3205del (p.Tyr1068_Arg1069delinsTer)
|
rs1553188832
|
|
NM_000642.3(AGL):c.3216_3217del (p.Glu1072fs)
|
rs771069887
|
|
NM_000642.3(AGL):c.3225del (p.Glu1076fs)
|
|
|
NM_000642.3(AGL):c.3227_3231del (p.Glu1076fs)
|
|
|
NM_000642.3(AGL):c.3229_3230del (p.Lys1077fs)
|
rs1557773719
|
|
NM_000642.3(AGL):c.3235C>T (p.Gln1079Ter)
|
rs1553188849
|
|
NM_000642.3(AGL):c.328del (p.Asp110fs)
|
rs2101087046
|
|
NM_000642.3(AGL):c.3297G>A (p.Trp1099Ter)
|
rs786204490
|
|
NM_000642.3(AGL):c.3299G>A (p.Gly1100Glu)
|
|
|
NM_000642.3(AGL):c.3299del (p.Gly1100fs)
|
|
|
NM_000642.3(AGL):c.3317_3321del (p.Ala1106fs)
|
|
|
NM_000642.3(AGL):c.3362+1G>A
|
rs1553189468
|
|
NM_000642.3(AGL):c.3362+2T>C
|
rs2100804114
|
|
NM_000642.3(AGL):c.3374T>G (p.Leu1125Ter)
|
rs2100817917
|
|
NM_000642.3(AGL):c.3434_3435del (p.Tyr1145fs)
|
|
|
NM_000642.3(AGL):c.3441del (p.Arg1147fs)
|
rs1653759340
|
|
NM_000642.3(AGL):c.3444C>A (p.Tyr1148Ter)
|
rs776977863
|
|
NM_000642.3(AGL):c.3458del (p.Ala1153fs)
|
rs2100818312
|
|
NM_000642.3(AGL):c.3465G>A (p.Trp1155Ter)
|
rs762547610
|
|
NM_000642.3(AGL):c.3470G>A (p.Trp1157Ter)
|
|
|
NM_000642.3(AGL):c.3484C>T (p.Gln1162Ter)
|
rs2100818414
|
|
NM_000642.3(AGL):c.348_373del (p.Ala117fs)
|
rs1057516308
|
|
NM_000642.3(AGL):c.3544_3551dup (p.Thr1185fs)
|
rs770701389
|
|
NM_000642.3(AGL):c.3549T>G (p.Tyr1183Ter)
|
|
|
NM_000642.3(AGL):c.3588+1G>A
|
|
|
NM_000642.3(AGL):c.3589-3C>G
|
rs1653935585
|
|
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.3697G>T (p.Glu1233Ter)
|
rs375254875
|
|
NM_000642.3(AGL):c.36_37insCG (p.Asn13fs)
|
rs762545015
|
|
NM_000642.3(AGL):c.3707_3714dup (p.Ala1239delinsIleTer)
|
rs752425529
|
|
NM_000642.3(AGL):c.3747dup (p.Gly1250fs)
|
rs1654690647
|
|
NM_000642.3(AGL):c.3756dup (p.Arg1253fs)
|
rs2100849117
|
|
NM_000642.3(AGL):c.3777_3778delinsAC (p.Trp1259_Met1260delinsTer)
|
rs2100849251
|
|
NM_000642.3(AGL):c.378T>A (p.Cys126Ter)
|
rs1553183359
|
|
NM_000642.3(AGL):c.3807dup (p.Arg1270Ter)
|
rs1057517017
|
|
NM_000642.3(AGL):c.3816_3817del (p.Gly1273fs)
|
rs867341758
|
|
NM_000642.3(AGL):c.382dup (p.Thr128fs)
|
|
|
NM_000642.3(AGL):c.3871A>T (p.Lys1291Ter)
|
|
|
NM_000642.3(AGL):c.388C>T (p.Gln130Ter)
|
|
|
NM_000642.3(AGL):c.3911del (p.Asn1304fs)
|
rs745757264
|
|
NM_000642.3(AGL):c.3911dup (p.Asn1304fs)
|
rs745757264
|
|
NM_000642.3(AGL):c.3928G>T (p.Glu1310Ter)
|
rs2100854670
|
|
NM_000642.3(AGL):c.4024del (p.Ser1342fs)
|
|
|
NM_000642.3(AGL):c.4027G>T (p.Glu1343Ter)
|
rs112795811
|
|
NM_000642.3(AGL):c.4043T>G (p.Leu1348Ter)
|
rs1654908371
|
|
NM_000642.3(AGL):c.4087A>T (p.Lys1363Ter)
|
rs1654912428
|
|
NM_000642.3(AGL):c.4100del (p.Gly1367fs)
|
rs777120567
|
|
NM_000642.3(AGL):c.410_413del (p.Leu137fs)
|
rs2101087361
|
|
NM_000642.3(AGL):c.4115G>A (p.Trp1372Ter)
|
rs1183383313
|
|
NM_000642.3(AGL):c.4116G>A (p.Trp1372Ter)
|
|
|
NM_000642.3(AGL):c.4161+5G>A
|
|
|
NM_000642.3(AGL):c.4165_4166del (p.Ala1388_Pro1389insTer)
|
rs1293077915
|
|
NM_000642.3(AGL):c.4176dup (p.Thr1393fs)
|
|
|
NM_000642.3(AGL):c.4193G>A (p.Trp1398Ter)
|
rs1344484845
|
|
NM_000642.3(AGL):c.4197del (p.Ala1400fs)
|
rs786204595
|
|
NM_000642.3(AGL):c.420del (p.Phe140fs)
|
rs1406033695
|
|
NM_000642.3(AGL):c.4220_4221del (p.Lys1407fs)
|
rs786204655
|
|
NM_000642.3(AGL):c.4221del (p.Lys1407fs)
|
rs786204655
|
|
NM_000642.3(AGL):c.4221dup (p.Leu1408fs)
|
rs786204655
|
|
NM_000642.3(AGL):c.4250T>A (p.Leu1417Ter)
|
|
|
NM_000642.3(AGL):c.4256dup (p.Asp1420fs)
|
|
|
NM_000642.3(AGL):c.4258_4259insGGAGATTCCTTAAAGAACTAAAAGTAGGCTCNNNNNAAAAAGAAAACTTTAGATCCAG (p.Asp1420fs)
|
rs2100869173
|
|
NM_000642.3(AGL):c.4260-1G>T
|
|
|
NM_000642.3(AGL):c.4270dup (p.Tyr1424fs)
|
rs1655117230
|
|
NM_000642.3(AGL):c.4284T>G (p.Tyr1428Ter)
|
|
|
NM_000642.3(AGL):c.4311C>G (p.Tyr1437Ter)
|
rs760889909
|
|
NM_000642.3(AGL):c.4323del (p.Gly1442fs)
|
rs1057516994
|
|
NM_000642.3(AGL):c.4339C>T (p.Gln1447Ter)
|
|
|
NM_000642.3(AGL):c.4347+1G>A
|
rs1553193463
|
|
NM_000642.3(AGL):c.4347+1G>C
|
rs1553193463
|
|
NM_000642.3(AGL):c.4348G>T (p.Glu1450Ter)
|
rs1553193486
|
|
NM_000642.3(AGL):c.4352G>A (p.Trp1451Ter)
|
rs1557794036
|
|
NM_000642.3(AGL):c.4353del (p.Trp1451fs)
|
|
|
NM_000642.3(AGL):c.436dup (p.Arg146fs)
|
|
|
NM_000642.3(AGL):c.4385_4389dup (p.Tyr1464fs)
|
rs1557794150
|
|
NM_000642.3(AGL):c.440_441del (p.Leu147fs)
|
|
|
NM_000642.3(AGL):c.4419dup (p.Thr1474fs)
|
rs2100876312
|
|
NM_000642.3(AGL):c.4422del (p.Ala1475fs)
|
rs1286364615
|
|
NM_000642.3(AGL):c.4456del (p.Ser1486fs)
|
rs113994134
|
|
NM_000642.3(AGL):c.4500del (p.Pro1501fs)
|
|
|
NM_000642.3(AGL):c.4506_4510del (p.Glu1502fs)
|
rs1064795728
|
|
NM_000642.3(AGL):c.4525del (p.Gln1509fs)
|
|
|
NM_000642.3(AGL):c.471del (p.Met157fs)
|
|
|
NM_000642.3(AGL):c.500dup (p.Leu168fs)
|
rs1443902661
|
|
NM_000642.3(AGL):c.525del (p.Ala176fs)
|
rs1571232214
|
|
NM_000642.3(AGL):c.530dup (p.Asn177fs)
|
|
|
NM_000642.3(AGL):c.535_538del (p.Leu179fs)
|
rs794727706
|
|
NM_000642.3(AGL):c.55del (p.Glu19fs)
|
rs1418531169
|
|
NM_000642.3(AGL):c.576T>G (p.Tyr192Ter)
|
rs1571232325
|
|
NM_000642.3(AGL):c.579del (p.Trp194fs)
|
rs2101094012
|
|
NM_000642.3(AGL):c.582del (p.Thr193_Trp194insTer)
|
rs1650336680
|
|
NM_000642.3(AGL):c.609del (p.Lys203fs)
|
rs1571232404
|
|
NM_000642.3(AGL):c.613A>T (p.Lys205Ter)
|
rs562042076
|
|
NM_000642.3(AGL):c.634del (p.Cys212fs)
|
rs1650343836
|
|
NM_000642.3(AGL):c.64del (p.Leu22fs)
|
rs1057517057
|
|
NM_000642.3(AGL):c.654C>A (p.Tyr218Ter)
|
|
|
NM_000642.3(AGL):c.671del (p.Asn224fs)
|
rs2101111970
|
|
NM_000642.3(AGL):c.716dup (p.Asn240fs)
|
rs2101112150
|
|
NM_000642.3(AGL):c.753_756del (p.Asp251fs)
|
rs748789700
|
|
NM_000642.3(AGL):c.795del (p.Lys265fs)
|
|
|
NM_000642.3(AGL):c.808G>T (p.Gly270Ter)
|
|
|
NM_000642.3(AGL):c.825del (p.Ile275fs)
|
rs2101112572
|
|
NM_000642.3(AGL):c.853del (p.Arg285fs)
|
|
|
NM_000642.3(AGL):c.854del (p.Arg285fs)
|
rs1553184620
|
|
NM_000642.3(AGL):c.861_864del (p.Ile288fs)
|
rs1571243699
|
|
NM_000642.3(AGL):c.891dup (p.Leu298fs)
|
rs775335476
|
|
NM_000642.3(AGL):c.894del (p.Trp299fs)
|
|
|
NM_000642.3(AGL):c.939del (p.Phe313fs)
|
rs760589837
|
|
NM_000642.3(AGL):c.955C>T (p.Gln319Ter)
|
rs753488821
|
|
NM_000642.3(AGL):c.958+1G>A
|
rs1553184657
|
|
NM_000642.3(AGL):c.958+1G>T
|
rs1553184657
|
|
NM_000642.3(AGL):c.965_966insTGACAGTTTTAATCTCTTTGTAGATATTTGCATTTAAGGTATCATCTTTTCTTTCTTTTAGAAAATAG
|
|
|
NM_000642.3(AGL):c.966dup (p.Arg323fs)
|
rs35856689
|
|
NM_000642.3(AGL):c.967C>T (p.Arg323Ter)
|
rs757987101
|
|
NM_000891.3(KCNJ2):c.-217+1029_422del
|
|
|
NM_000891.3(KCNJ2):c.1102del (p.Leu368fs)
|
rs1567823248
|
|
NM_000891.3(KCNJ2):c.118C>T (p.Arg40Ter)
|
rs786205811
|
|
NM_000891.3(KCNJ2):c.199C>T (p.Arg67Trp)
|
rs104894580
|
|
NM_000891.3(KCNJ2):c.212A>T (p.Asp71Val)
|
rs104894575
|
|
NM_000891.3(KCNJ2):c.224C>G (p.Thr75Arg)
|
rs104894585
|
|
NM_000891.3(KCNJ2):c.224C>T (p.Thr75Met)
|
rs104894585
|
|
NM_000891.3(KCNJ2):c.232G>A (p.Asp78Asn)
|
|
|
NM_000891.3(KCNJ2):c.232G>T (p.Asp78Tyr)
|
rs199473372
|
|
NM_000891.3(KCNJ2):c.244C>T (p.Arg82Trp)
|
rs199473373
|
|
NM_000891.3(KCNJ2):c.245G>A (p.Arg82Gln)
|
rs199473653
|
|
NM_000891.3(KCNJ2):c.431G>A (p.Gly144Asp)
|
rs199473377
|
|
NM_000891.3(KCNJ2):c.431G>C (p.Gly144Ala)
|
rs199473377
|
|
NM_000891.3(KCNJ2):c.436G>A (p.Gly146Ser)
|
rs199473654
|
|
NM_000891.3(KCNJ2):c.514G>A (p.Asp172Asn)
|
rs104894584
|
|
NM_000891.3(KCNJ2):c.575C>T (p.Thr192Ile)
|
rs199473655
|
|
NM_000891.3(KCNJ2):c.644G>A (p.Gly215Asp)
|
rs199473383
|
|
NM_000891.3(KCNJ2):c.652C>T (p.Arg218Trp)
|
rs104894578
|
|
NM_000891.3(KCNJ2):c.653G>A (p.Arg218Gln)
|
rs199473384
|
|
NM_000891.3(KCNJ2):c.682C>T (p.Arg228Ter)
|
rs1060500053
|
|
NM_000891.3(KCNJ2):c.715G>T (p.Glu239Ter)
|
rs1555603974
|
|
NM_000891.3(KCNJ2):c.721del (p.Glu241fs)
|
rs2074388917
|
|
NM_000891.3(KCNJ2):c.899G>A (p.Gly300Asp)
|
rs104894579
|
|
NM_000891.3(KCNJ2):c.899G>T (p.Gly300Val)
|
rs104894579
|
|
NM_000891.3(KCNJ2):c.919A>G (p.Met307Val)
|
rs1555603994
|
|
NM_000891.3(KCNJ2):c.926C>T (p.Thr309Ile)
|
rs199473388
|
|
NM_000891.3(KCNJ2):c.934C>T (p.Arg312Cys)
|
rs199473389
|
|
NM_000891.3(KCNJ2):c.935G>A (p.Arg312His)
|
rs786205820
|
|
NM_000925.4(PDHB):c.122_123del (p.Gln41fs)
|
|
|
NM_000925.4(PDHB):c.211C>T (p.Arg71Ter)
|
|
|
NM_000925.4(PDHB):c.231T>G (p.Tyr77Ter)
|
|
|
NM_000925.4(PDHB):c.238_239del (p.Lys80fs)
|
|
|
NM_000925.4(PDHB):c.478_479del (p.Gln160fs)
|
|
|
NM_000925.4(PDHB):c.495G>A (p.Trp165Ter)
|
|
|
NM_000925.4(PDHB):c.533_534delinsAA (p.Trp178Ter)
|
|
|
NM_000925.4(PDHB):c.578del (p.Asp193fs)
|
|
|
NM_000925.4(PDHB):c.639_655del (p.Pro214fs)
|
|
|
NM_000925.4(PDHB):c.714dup (p.Val239fs)
|
|
|
NM_000925.4(PDHB):c.716_717del (p.Val239fs)
|
|
|
NM_000925.4(PDHB):c.803del (p.Met268fs)
|
|
|
NM_001008216.2(GALE):c.151_154del (p.Arg51fs)
|
|
|
NM_001008216.2(GALE):c.152_155del (p.Arg51fs)
|
|
|
NM_001008216.2(GALE):c.196dup (p.Asp66fs)
|
|
|
NM_001008216.2(GALE):c.1A>G (p.Met1Val)
|
|
|
NM_001008216.2(GALE):c.2T>C (p.Met1Thr)
|
|
|
NM_001008216.2(GALE):c.3G>A (p.Met1Ile)
|
|
|
NM_001008216.2(GALE):c.408C>A (p.Tyr136Ter)
|
rs727503943
|
|
NM_001008216.2(GALE):c.517del (p.Gln173fs)
|
|
|
NM_001008216.2(GALE):c.534G>A (p.Trp178Ter)
|
|
|
NM_001008216.2(GALE):c.563_564del (p.Pro188fs)
|
|
|
NM_001008216.2(GALE):c.634_635del (p.Val212fs)
|
|
|
NM_001008216.2(GALE):c.655C>T (p.Arg219Ter)
|
|
|
NM_001008216.2(GALE):c.689_690del (p.Asp229_Tyr230insTer)
|
|
|
NM_001008216.2(GALE):c.695_696del (p.Thr232fs)
|
|
|
NM_001008216.2(GALE):c.700del (p.Asp234fs)
|
|
|
NM_001008216.2(GALE):c.749del (p.Gly250fs)
|
rs1570630665
|
|
NM_001008216.2(GALE):c.773dup (p.Lys259fs)
|
|
|
NM_001008216.2(GALE):c.815del (p.Gly272fs)
|
|
|
NM_001008216.2(GALE):c.933del (p.Ser312fs)
|
|
|
NM_001040716.2(PC):c.1023-1G>A
|
rs2135917561
|
|
NM_001040716.2(PC):c.1042C>T (p.Gln348Ter)
|
rs2135917452
|
|
NM_001040716.2(PC):c.1067_1070delinsTCCACGTGGCTGAGGGCAGGCAG (p.Ser356fs)
|
rs2135917229
|
|
NM_001040716.2(PC):c.1084del (p.Leu362fs)
|
rs2135917031
|
|
NM_001040716.2(PC):c.1123C>T (p.Gln375Ter)
|
rs1310884700
|
|
NM_001040716.2(PC):c.1168dup (p.Asp390fs)
|
rs1946484568
|
|
NM_001040716.2(PC):c.1333del (p.Arg445fs)
|
|
|
NM_001040716.2(PC):c.1339del (p.Ala448fs)
|
|
|
NM_001040716.2(PC):c.1345G>T (p.Glu449Ter)
|
rs2135903791
|
|
NM_001040716.2(PC):c.1357C>T (p.Arg453Ter)
|
rs768514713
|
|
NM_001040716.2(PC):c.1405C>T (p.Gln469Ter)
|
|
|
NM_001040716.2(PC):c.1435C>T (p.Gln479Ter)
|
|
|
NM_001040716.2(PC):c.1465del (p.Gln489fs)
|
|
|
NM_001040716.2(PC):c.1639C>T (p.Arg547Ter)
|
|
|
NM_001040716.2(PC):c.1702_1706del (p.Thr568fs)
|
rs2135814786
|
|
NM_001040716.2(PC):c.1828G>A (p.Ala610Thr)
|
rs28940589
|
|
NM_001040716.2(PC):c.1918C>T (p.Gln640Ter)
|
rs2135809396
|
|
NM_001040716.2(PC):c.2004_2005del (p.Asn669fs)
|
|
|
NM_001040716.2(PC):c.2114C>A (p.Ser705Ter)
|
rs113994146
|
|
NM_001040716.2(PC):c.2156_2159del (p.Ser719fs)
|
rs2135803326
|
|
NM_001040716.2(PC):c.2253del (p.Cys752fs)
|
|
|
NM_001040716.2(PC):c.2328_2329del (p.Ala778fs)
|
rs2135800153
|
|
NM_001040716.2(PC):c.2473+2_2473+5del
|
|
|
NM_001040716.2(PC):c.2493_2494del (p.Val831_Phe832insTer)
|
rs756355930
|
|
NM_001040716.2(PC):c.2581del (p.Val861fs)
|
rs2135795582
|
|
NM_001040716.2(PC):c.2613C>A (p.Tyr871Ter)
|
|
|
NM_001040716.2(PC):c.2746dup (p.Asp916fs)
|
|
|
NM_001040716.2(PC):c.2874dup (p.Phe959fs)
|
|
|
NM_001040716.2(PC):c.2948dup (p.Pro984fs)
|
|
|
NM_001040716.2(PC):c.2953del (p.Leu985fs)
|
rs2135790424
|
|
NM_001040716.2(PC):c.3008del (p.Thr1003fs)
|
|
|
NM_001040716.2(PC):c.3089del (p.Leu1030fs)
|
|
|
NM_001040716.2(PC):c.3102_3103dup (p.Thr1035fs)
|
|
|
NM_001040716.2(PC):c.3102dup (p.Thr1035fs)
|
rs2135789146
|
|
NM_001040716.2(PC):c.3122_3126del (p.Gly1041fs)
|
|
|
NM_001040716.2(PC):c.3137_3138del (p.Glu1046fs)
|
|
|
NM_001040716.2(PC):c.3164del (p.Gly1055fs)
|
rs2135786710
|
|
NM_001040716.2(PC):c.3170del (p.Thr1057fs)
|
|
|
NM_001040716.2(PC):c.3190del (p.Ala1064fs)
|
rs2135786512
|
|
NM_001040716.2(PC):c.321+1G>T
|
rs2135941937
|
|
NM_001040716.2(PC):c.3288+1G>A
|
|
|
NM_001040716.2(PC):c.3288+1G>T
|
rs2135785399
|
|
NM_001040716.2(PC):c.3288+2T>C
|
rs2135785388
|
|
NM_001040716.2(PC):c.3316A>T (p.Lys1106Ter)
|
|
|
NM_001040716.2(PC):c.3359_3362dup (p.Ile1123fs)
|
rs1555013840
|
|
NM_001040716.2(PC):c.3362_3363del (p.Ile1121fs)
|
|
|
NM_001040716.2(PC):c.3377_3392del (p.Val1126fs)
|
|
|
NM_001040716.2(PC):c.3387del (p.Lys1130fs)
|
rs2135783409
|
|
NM_001040716.2(PC):c.364del (p.Ser122fs)
|
|
|
NM_001040716.2(PC):c.366dup (p.Glu123Ter)
|
rs2135940752
|
|
NM_001040716.2(PC):c.372_375del (p.Ala125fs)
|
rs1565245427
|
|
NM_001040716.2(PC):c.52C>T (p.Arg18Ter)
|
rs144583275
|
|
NM_001040716.2(PC):c.593_612del (p.Gly198fs)
|
|
|
NM_001040716.2(PC):c.838_844del (p.Ala280fs)
|
|
|
NM_001040716.2(PC):c.908del (p.Gly303fs)
|
|
|
NM_001040716.2(PC):c.913G>T (p.Glu305Ter)
|
rs1487446205
|
|
NM_001164277.1(SLC37A4):c.529_533del
|
rs2089891548
|
|
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.1028_1036delinsTGCCTCG (p.Tyr343fs)
|
|
|
NM_001164277.2(SLC37A4):c.1049_1052del (p.Gly350fs)
|
rs2134628172
|
|
NM_001164277.2(SLC37A4):c.1063G>T (p.Glu355Ter)
|
rs121908975
|
|
NM_001164277.2(SLC37A4):c.1065del (p.Ser356fs)
|
|
|
NM_001164277.2(SLC37A4):c.1079del (p.Asn360fs)
|
|
|
NM_001164277.2(SLC37A4):c.1124+1G>C
|
rs782630676
|
|
NM_001164277.2(SLC37A4):c.1172_1173insT (p.Ser392fs)
|
|
|
NM_001164277.2(SLC37A4):c.1175del (p.Ser392fs)
|
|
|
NM_001164277.2(SLC37A4):c.1178G>A (p.Trp393Ter)
|
rs2134626765
|
|
NM_001164277.2(SLC37A4):c.1190del (p.Phe397fs)
|
|
|
NM_001164277.2(SLC37A4):c.11del (p.Gln4fs)
|
rs2134644472
|
|
NM_001164277.2(SLC37A4):c.1212T>A (p.Cys404Ter)
|
|
|
NM_001164277.2(SLC37A4):c.148+1G>A
|
rs1943672400
|
|
NM_001164277.2(SLC37A4):c.148+2T>C
|
rs1449998297
|
|
NM_001164277.2(SLC37A4):c.149-2A>G
|
|
|
NM_001164277.2(SLC37A4):c.169_175del (p.Ser57fs)
|
rs782501672
|
|
NM_001164277.2(SLC37A4):c.170C>A (p.Ser57Ter)
|
rs374848317
|
|
NM_001164277.2(SLC37A4):c.180T>G (p.Tyr60Ter)
|
|
|
NM_001164277.2(SLC37A4):c.195dup (p.Val66fs)
|
|
|
NM_001164277.2(SLC37A4):c.217C>T (p.Gln73Ter)
|
rs1555191604
|
|
NM_001164277.2(SLC37A4):c.233G>A (p.Trp78Ter)
|
|
|
NM_001164277.2(SLC37A4):c.279del (p.Phe94fs)
|
|
|
NM_001164277.2(SLC37A4):c.294del (p.Thr99fs)
|
|
|
NM_001164277.2(SLC37A4):c.335dup (p.Ala113fs)
|
rs2134639714
|
|
NM_001164277.2(SLC37A4):c.344_345dup (p.Leu116fs)
|
rs782604758
|
|
NM_001164277.2(SLC37A4):c.345dup (p.Leu116fs)
|
rs782604758
|
|
NM_001164277.2(SLC37A4):c.359dup (p.Cys121fs)
|
rs1182102272
|
|
NM_001164277.2(SLC37A4):c.381+1G>A
|
rs786204637
|
|
NM_001164277.2(SLC37A4):c.381+1G>T
|
rs786204637
|
|
NM_001164277.2(SLC37A4):c.398dup (p.Phe134fs)
|
rs2134638421
|
|
NM_001164277.2(SLC37A4):c.410G>A (p.Trp137Ter)
|
|
|
NM_001164277.2(SLC37A4):c.413G>A (p.Trp138Ter)
|
|
|
NM_001164277.2(SLC37A4):c.421del (p.Leu141fs)
|
|
|
NM_001164277.2(SLC37A4):c.494G>A (p.Trp165Ter)
|
rs1943618079
|
|
NM_001164277.2(SLC37A4):c.495G>A (p.Trp165Ter)
|
rs1233639372
|
|
NM_001164277.2(SLC37A4):c.497_509del (p.Arg166fs)
|
|
|
NM_001164277.2(SLC37A4):c.528_530del (p.Cys176_Val177delinsTrp)
|
rs2134637643
|
|
NM_001164277.2(SLC37A4):c.547T>C (p.Cys183Arg)
|
rs193302893
|
|
NM_001164277.2(SLC37A4):c.572C>T (p.Pro191Leu)
|
rs193302888
|
|
NM_001164277.2(SLC37A4):c.593del (p.Asn198fs)
|
|
|
NM_001164277.2(SLC37A4):c.595del (p.Leu199fs)
|
rs1474282972
|
|
NM_001164277.2(SLC37A4):c.59dup (p.Tyr21fs)
|
rs1943676862
|
|
NM_001164277.2(SLC37A4):c.675C>A (p.Tyr225Ter)
|
rs996440530
|
|
NM_001164277.2(SLC37A4):c.680G>A (p.Trp227Ter)
|
|
|
NM_001164277.2(SLC37A4):c.686del (p.Leu229fs)
|
|
|
NM_001164277.2(SLC37A4):c.713del (p.Gly238fs)
|
|
|
NM_001164277.2(SLC37A4):c.71_74dup (p.Tyr25Ter)
|
rs2134644045
|
|
NM_001164277.2(SLC37A4):c.74_77del (p.Tyr25fs)
|
rs1447366650
|
|
NM_001164277.2(SLC37A4):c.751dup (p.Leu251fs)
|
|
|
NM_001164277.2(SLC37A4):c.778del (p.Leu260_Val261insTer)
|
|
|
NM_001164277.2(SLC37A4):c.786-3_787del
|
rs2134633858
|
|
NM_001164277.2(SLC37A4):c.796_797del (p.Met266fs)
|
rs1592111172
|
|
NM_001164277.2(SLC37A4):c.899G>A (p.Arg300His)
|
rs193302903
|
|
NM_001164277.2(SLC37A4):c.925del (p.Ala309fs)
|
rs2134631619
|
|
NM_001164277.2(SLC37A4):c.927del (p.Gly310fs)
|
rs1943557200
|
|
NM_001164277.2(SLC37A4):c.929del (p.Gly310fs)
|
rs1943556915
|
|
NM_001164277.2(SLC37A4):c.935_936del (p.Thr312fs)
|
|
|
NM_001164277.2(SLC37A4):c.958del (p.Arg319_Val320insTer)
|
rs1943554955
|
|
NM_001164277.2(SLC37A4):c.962_963del (p.Thr321fs)
|
|
|
NM_001164277.2(SLC37A4):c.976dup (p.Ser326fs)
|
rs2134631242
|
|
NM_001164277.2(SLC37A4):c.981del (p.Lys328fs)
|
rs1001301633
|
|
NM_001164277.2(SLC37A4):c.989G>A (p.Trp330Ter)
|
|
|
NM_001243177.4(ALDOA):c.1001C>T (p.Ala334Val)
|
rs2151019295
|
|
NM_001243177.4(ALDOA):c.349_361del (p.Leu117fs)
|
|
|
NM_001352514.2(HLCS):c.1025dup (p.Tyr342Ter)
|
rs1601803431
|
|
NM_001352514.2(HLCS):c.1045G>T (p.Glu349Ter)
|
rs148324626
|
|
NM_001352514.2(HLCS):c.1083T>A (p.Cys361Ter)
|
|
|
NM_001352514.2(HLCS):c.1091T>A (p.Leu364Ter)
|
|
|
NM_001352514.2(HLCS):c.1133del (p.Gln378fs)
|
|
|
NM_001352514.2(HLCS):c.1156C>T (p.Gln386Ter)
|
rs2146525207
|
|
NM_001352514.2(HLCS):c.1210del (p.Gln403_Val404insTer)
|
|
|
NM_001352514.2(HLCS):c.1223del (p.Gly408fs)
|
rs771944310
|
|
NM_001352514.2(HLCS):c.1418dup (p.Glu474fs)
|
rs1555955827
|
|
NM_001352514.2(HLCS):c.1444_1456delinsATAGTGCAAACTCCAACATAGTGCAAACT (p.Leu482_Pro486delinsIleValGlnThrProThrTer)
|
|
|
NM_001352514.2(HLCS):c.1445dup (p.Leu482fs)
|
|
|
NM_001352514.2(HLCS):c.1471del (p.Val491fs)
|
|
|
NM_001352514.2(HLCS):c.1494dup (p.Leu500fs)
|
|
|
NM_001352514.2(HLCS):c.1496T>A (p.Leu499Ter)
|
rs1601779091
|
|
NM_001352514.2(HLCS):c.1505C>G (p.Ser502Ter)
|
|
|
NM_001352514.2(HLCS):c.1537_1540del (p.Glu513fs)
|
|
|
NM_001352514.2(HLCS):c.1543del (p.Ile514_Leu515insTer)
|
rs1288789420
|
|
NM_001352514.2(HLCS):c.1552del (p.Gly519fs)
|
rs1569206815
|
|
NM_001352514.2(HLCS):c.1576C>T (p.Gln526Ter)
|
rs1393866282
|
|
NM_001352514.2(HLCS):c.1599_1600del (p.Tyr534fs)
|
|
|
NM_001352514.2(HLCS):c.1600_1604del (p.Tyr534fs)
|
|
|
NM_001352514.2(HLCS):c.1627_1628del (p.Arg543fs)
|
rs2146336516
|
|
NM_001352514.2(HLCS):c.1631del (p.Asp544fs)
|
|
|
NM_001352514.2(HLCS):c.1631dup (p.Asp544fs)
|
|
|
NM_001352514.2(HLCS):c.1634del (p.Pro545fs)
|
rs2146336447
|
|
NM_001352514.2(HLCS):c.1646G>A (p.Trp549Ter)
|
rs1342457304
|
|
NM_001352514.2(HLCS):c.1658_1659del (p.His553fs)
|
|
|
NM_001352514.2(HLCS):c.1698_1701del (p.Leu567fs)
|
rs2065041493
|
|
NM_001352514.2(HLCS):c.1699_1700del (p.Ser566_Leu567insTer)
|
rs1555930523
|
|
NM_001352514.2(HLCS):c.1769dup (p.Met590fs)
|
|
|
NM_001352514.2(HLCS):c.1799T>G (p.Leu600Ter)
|
|
|
NM_001352514.2(HLCS):c.1831C>T (p.Gln611Ter)
|
|
|
NM_001352514.2(HLCS):c.1869del (p.Thr624fs)
|
rs2065031709
|
|
NM_001352514.2(HLCS):c.1910del (p.Pro637fs)
|
|
|
NM_001352514.2(HLCS):c.1980G>A (p.Trp660Ter)
|
|
|
NM_001352514.2(HLCS):c.2030del (p.Leu677fs)
|
|
|
NM_001352514.2(HLCS):c.2038C>T (p.Gln680Ter)
|
|
|
NM_001352514.2(HLCS):c.2041dup (p.Leu681fs)
|
|
|
NM_001352514.2(HLCS):c.2060_2081del (p.Phe687fs)
|
|
|
NM_001352514.2(HLCS):c.2089G>A (p.Val697Met)
|
rs119103231
|
|
NM_001352514.2(HLCS):c.2128_2135delinsTAAAGGGTGA (p.Asn710_Arg712delinsTer)
|
|
|
NM_001352514.2(HLCS):c.2176A>T (p.Lys726Ter)
|
|
|
NM_001352514.2(HLCS):c.2212_2213del (p.Gly738fs)
|
|
|
NM_001352514.2(HLCS):c.2224del (p.Tyr742fs)
|
|
|
NM_001352514.2(HLCS):c.2301C>G (p.Tyr767Ter)
|
|
|
NM_001352514.2(HLCS):c.2308C>T (p.Gln770Ter)
|
|
|
NM_001352514.2(HLCS):c.2333T>G (p.Leu778Ter)
|
|
|
NM_001352514.2(HLCS):c.2369_2373del (p.Val790fs)
|
|
|
NM_001352514.2(HLCS):c.2439C>G (p.Tyr813Ter)
|
|
|
NM_001352514.2(HLCS):c.2458del (p.Gln820fs)
|
|
|
NM_001352514.2(HLCS):c.505C>T (p.Gln169Ter)
|
|
|
NM_001352514.2(HLCS):c.513dup (p.Thr172fs)
|
|
|
NM_001352514.2(HLCS):c.535C>T (p.Gln179Ter)
|
rs2066942649
|
|
NM_001352514.2(HLCS):c.655G>T (p.Glu219Ter)
|
|
|
NM_001352514.2(HLCS):c.664C>T (p.Gln222Ter)
|
rs1555957134
|
|
NM_001352514.2(HLCS):c.664_667del (p.Gln222fs)
|
rs776431253
|
|
NM_001352514.2(HLCS):c.691G>T (p.Glu231Ter)
|
rs1569218416
|
|
NM_001352514.2(HLCS):c.726dup (p.Val243fs)
|
|
|
NM_001352514.2(HLCS):c.727del (p.Val243fs)
|
rs2146528200
|
|
NM_001352514.2(HLCS):c.763G>T (p.Glu255Ter)
|
rs937407062
|
|
NM_001352514.2(HLCS):c.863del (p.Ser288fs)
|
rs1015594025
|
|
NM_001352514.2(HLCS):c.958C>T (p.Gln320Ter)
|
|
|
NM_001352514.2(HLCS):c.958del (p.Gln320fs)
|
|
|
NM_001360016.2(G6PD):c.130G>A (p.Ala44Thr)
|
|
|
NM_001360016.2(G6PD):c.1354_1358del (p.Phe452fs)
|
|
|
NM_001360016.2(G6PD):c.241C>T (p.Arg81Cys)
|
|
|
NM_001360016.2(G6PD):c.383T>G (p.Leu128Arg)
|
rs78365220
|
|
NM_001360016.2(G6PD):c.404A>C (p.Asn135Thr)
|
rs782322505
|
|
NM_001360016.2(G6PD):c.463C>G (p.His155Asp)
|
|
|
NM_001360016.2(G6PD):c.497G>A (p.Arg166His)
|
|
|
NM_001360016.2(G6PD):c.519C>G (p.Phe173Leu)
|
|
|
NM_001360016.2(G6PD):c.835A>T (p.Thr279Ser)
|
rs2148329890
|
|
NM_001370658.1(BTD):c.*159G>A
|
rs530872564
|
|
NM_001370658.1(BTD):c.-18del
|
rs2064260290
|
|
NM_001370658.1(BTD):c.1025T>A (p.Leu342Ter)
|
rs747548016
|
|
NM_001370658.1(BTD):c.1082_1097del (p.Asp361fs)
|
|
|
NM_001370658.1(BTD):c.1092dup (p.Lys365fs)
|
|
|
NM_001370658.1(BTD):c.1098G>A (p.Trp366Ter)
|
rs397514434
|
|
NM_001370658.1(BTD):c.111T>G (p.Tyr37Ter)
|
rs397514339
|
|
NM_001370658.1(BTD):c.1130_1155dup (p.Val386delinsArgTer)
|
|
|
NM_001370658.1(BTD):c.1137G>A (p.Met379Ile)
|
|
|
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.1207del (p.Cys403fs)
|
|
|
NM_001370658.1(BTD):c.1211G>A (p.Cys404Tyr)
|
rs397514335
|
|
NM_001370658.1(BTD):c.1211G>C (p.Cys404Ser)
|
rs397514335
|
|
NM_001370658.1(BTD):c.1254T>A (p.Tyr418Ter)
|
rs397514416
|
|
NM_001370658.1(BTD):c.1256C>A (p.Ala419Asp)
|
|
|
NM_001370658.1(BTD):c.1274G>A (p.Gly425Glu)
|
rs397514402
|
|
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.1309G>A (p.Val437Met)
|
rs146600671
|
|
NM_001370658.1(BTD):c.132G>C (p.Glu44Asp)
|
rs397514436
|
|
NM_001370658.1(BTD):c.1350dup (p.Cys451fs)
|
rs886041559
|
|
NM_001370658.1(BTD):c.1372G>C (p.Ala458Pro)
|
rs181396238
|
|
NM_001370658.1(BTD):c.1387G>T (p.Glu463Ter)
|
rs1559600871
|
|
NM_001370658.1(BTD):c.1399del (p.Trp467fs)
|
rs397514423
|
|
NM_001370658.1(BTD):c.1406A>G (p.Asn469Ser)
|
|
|
NM_001370658.1(BTD):c.1419del (p.Tyr474fs)
|
rs1559600938
|
|
NM_001370658.1(BTD):c.1433dup (p.Leu478fs)
|
rs397514425
|
|
NM_001370658.1(BTD):c.1543C>T (p.Leu515Phe)
|
rs771537277
|
|
NM_001370658.1(BTD):c.1547_1548del (p.Tyr516fs)
|
|
|
NM_001370658.1(BTD):c.1552C>A (p.Arg518Ser)
|
rs80338686
|
|
NM_001370658.1(BTD):c.1553G>T (p.Arg518Leu)
|
rs397514429
|
|
NM_001370658.1(BTD):c.185C>T (p.Ala62Val)
|
rs397507171
|
|
NM_001370658.1(BTD):c.188T>C (p.Leu63Ser)
|
rs397514347
|
|
NM_001370658.1(BTD):c.218A>G (p.Tyr73Cys)
|
rs397514348
|
|
NM_001370658.1(BTD):c.256C>T (p.Gln86Ter)
|
rs1553653062
|
|
NM_001370658.1(BTD):c.274G>A (p.Glu92Lys)
|
rs397514352
|
|
NM_001370658.1(BTD):c.282del (p.Ile95fs)
|
rs2065521862
|
|
NM_001370658.1(BTD):c.346C>T (p.Gln116Ter)
|
|
|
NM_001370658.1(BTD):c.359G>A (p.Trp120Ter)
|
rs2125486425
|
|
NM_001370658.1(BTD):c.364C>A (p.Pro122Thr)
|
rs397514357
|
|
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs)
|
rs80338684
|
|
NM_001370658.1(BTD):c.399+2T>G
|
|
|
NM_001370658.1(BTD):c.399G>A (p.Glu133=)
|
rs397514360
|
|
NM_001370658.1(BTD):c.419G>T (p.Cys140Phe)
|
rs745343884
|
|
NM_001370658.1(BTD):c.41_44del (p.Gly14fs)
|
rs1249246307
|
|
NM_001370658.1(BTD):c.430del (p.Arg144fs)
|
|
|
NM_001370658.1(BTD):c.477_478delinsAA (p.Cys159_His160delinsTer)
|
rs2125500515
|
|
NM_001370658.1(BTD):c.47dup (p.Tyr16Ter)
|
rs1057516812
|
|
NM_001370658.1(BTD):c.48C>G (p.Tyr16Ter)
|
|
|
NM_001370658.1(BTD):c.516C>A (p.Tyr172Ter)
|
rs766476582
|
|
NM_001370658.1(BTD):c.522C>G (p.Phe174Leu)
|
rs750363004
|
|
NM_001370658.1(BTD):c.527del (p.Thr176fs)
|
rs1553653680
|
|
NM_001370658.1(BTD):c.534_536del (p.Val179del)
|
rs397514373
|
|
NM_001370658.1(BTD):c.545A>T (p.Asn182Ile)
|
rs397514376
|
|
NM_001370658.1(BTD):c.56_59dup (p.Gly21fs)
|
rs2125453296
|
|
NM_001370658.1(BTD):c.588C>G (p.Tyr196Ter)
|
rs2065635815
|
|
NM_001370658.1(BTD):c.604G>C (p.Asp202His)
|
rs200337373
|
|
NM_001370658.1(BTD):c.622G>T (p.Asp208Tyr)
|
rs397514380
|
|
NM_001370658.1(BTD):c.641C>T (p.Thr214Ile)
|
rs587783005
|
|
NM_001370658.1(BTD):c.671C>T (p.Thr224Ile)
|
|
|
NM_001370658.1(BTD):c.686del (p.Leu229fs)
|
|
|
NM_001370658.1(BTD):c.743dup (p.Tyr248Ter)
|
rs2125502078
|
|
NM_001370658.1(BTD):c.773T>C (p.Leu258Pro)
|
rs397514389
|
|
NM_001370658.1(BTD):c.805G>C (p.Ala269Pro)
|
rs397514334
|
|
NM_001370658.1(BTD):c.835G>C (p.Ala279Pro)
|
rs1157567876
|
|
NM_001370658.1(BTD):c.836C>T (p.Ala279Val)
|
rs397514392
|
|
NM_001370658.1(BTD):c.869G>A (p.Gly290Glu)
|
rs397514393
|
|
NM_001370658.1(BTD):c.901dup (p.Trp301fs)
|
|
|
NM_001370658.1(BTD):c.932_941del (p.His311fs)
|
rs773137513
|
|
NM_001370658.1(BTD):c.946C>T (p.Gln316Ter)
|
|
|
NM_001370658.1(BTD):c.950del (p.Val317fs)
|
rs2125503248
|
|
NM_001370658.1(BTD):c.992del (p.Thr331fs)
|
rs397514398
|
|
NM_001739.2(CA5A):c.683G>A (p.Trp228Ter)
|
|
|
NM_001931.5(DLAT):c.1303C>T (p.Arg435Ter)
|
|
|
NM_001931.5(DLAT):c.568C>T (p.Gln190Ter)
|
|
|
NM_001931.5(DLAT):c.723dup (p.Val242fs)
|
|
|
NM_001931.5(DLAT):c.802del (p.Glu268fs)
|
|
|
NM_001931.5(DLAT):c.848_849del (p.Asp283fs)
|
rs782704553
|
|
NM_002076.4(GNS):c.1019A>G (p.Lys340Arg)
|
|
|
NM_002076.4(GNS):c.1063C>T (p.Arg355Ter)
|
rs119461974
|
|
NM_002076.4(GNS):c.1168C>T (p.Gln390Ter)
|
rs119461975
|
|
NM_002076.4(GNS):c.118del (p.Val40fs)
|
rs2136259376
|
|
NM_002076.4(GNS):c.1199del (p.Ile399_Leu400insTer)
|
rs1869297835
|
|
NM_002076.4(GNS):c.1225C>T (p.Arg409Ter)
|
|
|
NM_002076.4(GNS):c.1231dup (p.Asp411fs)
|
|
|
NM_002076.4(GNS):c.1249C>T (p.Gln417Ter)
|
rs2136237909
|
|
NM_002076.4(GNS):c.1414C>T (p.Gln472Ter)
|
rs2136237257
|
|
NM_002076.4(GNS):c.1414dup (p.Gln472fs)
|
|
|
NM_002076.4(GNS):c.1420-2A>G
|
rs2136236649
|
|
NM_002076.4(GNS):c.1459C>T (p.Gln487Ter)
|
rs2136236619
|
|
NM_002076.4(GNS):c.148dup (p.Val50fs)
|
rs2136259310
|
|
NM_002076.4(GNS):c.214_220del (p.Ala72fs)
|
rs759378094
|
|
NM_002076.4(GNS):c.23del (p.Pro8fs)
|
rs2136259586
|
|
NM_002076.4(GNS):c.246del (p.Ser83fs)
|
|
|
NM_002076.4(GNS):c.255T>G (p.Tyr85Ter)
|
|
|
NM_002076.4(GNS):c.257_258del (p.Val86fs)
|
|
|
NM_002076.4(GNS):c.286_287del (p.Ala96fs)
|
|
|
NM_002076.4(GNS):c.320_326del (p.His107fs)
|
|
|
NM_002076.4(GNS):c.379del (p.Gln127fs)
|
rs1869941124
|
|
NM_002076.4(GNS):c.386dup (p.Asn130fs)
|
rs2136249878
|
|
NM_002076.4(GNS):c.400del (p.Ala134fs)
|
|
|
NM_002076.4(GNS):c.413C>A (p.Ser138Ter)
|
|
|
NM_002076.4(GNS):c.441del (p.Lys149fs)
|
|
|
NM_002076.4(GNS):c.49dup (p.Arg17fs)
|
|
|
NM_002076.4(GNS):c.4del (p.Arg2fs)
|
rs2136259630
|
|
NM_002076.4(GNS):c.506G>A (p.Trp169Ter)
|
rs2136248862
|
|
NM_002076.4(GNS):c.526G>T (p.Glu176Ter)
|
rs2136248430
|
|
NM_002076.4(GNS):c.538A>T (p.Lys180Ter)
|
rs2136248422
|
|
NM_002076.4(GNS):c.59_66del (p.Pro20fs)
|
|
|
NM_002076.4(GNS):c.638del (p.Leu213fs)
|
rs2136247658
|
|
NM_002076.4(GNS):c.654C>A (p.Tyr218Ter)
|
rs2136247644
|
|
NM_002076.4(GNS):c.667G>T (p.Glu223Ter)
|
|
|
NM_002076.4(GNS):c.714G>A (p.Trp238Ter)
|
|
|
NM_002076.4(GNS):c.732C>G (p.Tyr244Ter)
|
|
|
NM_002076.4(GNS):c.841_842insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGACTAATTCTT (p.Ser280_Ser281insPhePhePhePhePhePhePheXaaXaaXaaXaaProArgAspProProAlaSerAlaSerGlnSerAlaGlyIleThrGlyValSerHisArgAlaArgProThrAsnSer)
|
rs2136246147
|
|
NM_002076.4(GNS):c.875+1G>A
|
rs1214781989
|
|
NM_002076.4(GNS):c.876-2A>G
|
|
|
NM_002076.4(GNS):c.887_888del (p.Leu296fs)
|
rs2136245530
|
|
NM_002076.4(GNS):c.937dup (p.Thr313fs)
|
|
|
NM_002076.4(GNS):c.959dup (p.Tyr320Ter)
|
|
|
NM_002076.4(GNS):c.974C>G (p.Ser325Ter)
|
|
|
NM_002103.5(GYS1):c.1192_1193insCAAGG (p.Glu398fs)
|
|
|
NM_002103.5(GYS1):c.1204del (p.Arg402fs)
|
rs1568619900
|
|
NM_002103.5(GYS1):c.1230-2A>G
|
|
|
NM_002103.5(GYS1):c.1539del (p.Tyr514fs)
|
|
|
NM_002103.5(GYS1):c.1615G>T (p.Glu539Ter)
|
rs561646250
|
|
NM_002103.5(GYS1):c.169G>T (p.Glu57Ter)
|
|
|
NM_002103.5(GYS1):c.359del (p.Gly120fs)
|
|
|
NM_002103.5(GYS1):c.405_420del (p.Asp135fs)
|
rs2122525139
|
|
NM_002103.5(GYS1):c.546G>A (p.Trp182Ter)
|
rs1225603414
|
|
NM_002103.5(GYS1):c.583C>T (p.Arg195Ter)
|
|
|
NM_002103.5(GYS1):c.699_700del (p.Arg236fs)
|
rs1345327745
|
|
NM_002103.5(GYS1):c.721C>T (p.Arg241Ter)
|
|
|
NM_002103.5(GYS1):c.7_8del (p.Leu3fs)
|
|
|
NM_002103.5(GYS1):c.907C>T (p.Arg303Ter)
|
rs1269675538
|
|
NM_002103.5(GYS1):c.913C>T (p.Gln305Ter)
|
rs2122509752
|
|
NM_002103.5(GYS1):c.929del (p.Gly310fs)
|
rs2122509664
|
|
NM_002294.3(LAMP2):c.1013C>G (p.Ser338Ter)
|
rs1060502305
|
|
NM_002294.3(LAMP2):c.1037del (p.Asn346fs)
|
rs2058573264
|
|
NM_002294.3(LAMP2):c.1041del (p.Phe348fs)
|
rs2147278864
|
|
NM_002294.3(LAMP2):c.1057C>T (p.Gln353Ter)
|
rs2147278858
|
|
NM_002294.3(LAMP2):c.1093+1G>A
|
rs727504742
|
|
NM_002294.3(LAMP2):c.123C>A (p.Cys41Ter)
|
|
|
NM_002294.3(LAMP2):c.124del (p.Leu42fs)
|
rs2147287645
|
|
NM_002294.3(LAMP2):c.129T>A (p.Tyr43Ter)
|
|
|
NM_002294.3(LAMP2):c.137G>A (p.Trp46Ter)
|
rs1569371591
|
|
NM_002294.3(LAMP2):c.139C>T (p.Gln47Ter)
|
rs2147287624
|
|
NM_002294.3(LAMP2):c.152_153del (p.Thr51fs)
|
|
|
NM_002294.3(LAMP2):c.183+1G>A
|
rs727503120
|
|
NM_002294.3(LAMP2):c.183+2T>C
|
rs2147287565
|
|
NM_002294.3(LAMP2):c.183T>A (p.Tyr61Ter)
|
rs397516736
|
|
NM_002294.3(LAMP2):c.183T>G (p.Tyr61Ter)
|
rs397516736
|
|
NM_002294.3(LAMP2):c.190_191del (p.Val64fs)
|
rs1569371330
|
|
NM_002294.3(LAMP2):c.198_207del (p.Ile66fs)
|
|
|
NM_002294.3(LAMP2):c.205_218del (p.His69fs)
|
rs1602540152
|
|
NM_002294.3(LAMP2):c.222T>A (p.Tyr74Ter)
|
|
|
NM_002294.3(LAMP2):c.235_243delinsGTGG (p.Cys79fs)
|
rs1921053197
|
|
NM_002294.3(LAMP2):c.264dup (p.Ala89fs)
|
|
|
NM_002294.3(LAMP2):c.293G>A (p.Trp98Ter)
|
rs397516740
|
|
NM_002294.3(LAMP2):c.34dup (p.Ser12fs)
|
rs1921663802
|
|
NM_002294.3(LAMP2):c.391del (p.Asp131fs)
|
rs2147286730
|
|
NM_002294.3(LAMP2):c.415_469dup (p.Ser157Ter)
|
rs1569369940
|
|
NM_002294.3(LAMP2):c.467T>G (p.Leu156Ter)
|
rs1385890053
|
|
NM_002294.3(LAMP2):c.520C>T (p.Gln174Ter)
|
rs104894857
|
|
NM_002294.3(LAMP2):c.546_548delinsTA (p.Ser183fs)
|
rs1060502302
|
|
NM_002294.3(LAMP2):c.54C>A (p.Cys18Ter)
|
rs2147294814
|
|
NM_002294.3(LAMP2):c.565del (p.Cys189fs)
|
|
|
NM_002294.3(LAMP2):c.64+1G>C
|
rs957313991
|
|
NM_002294.3(LAMP2):c.646G>T (p.Glu216Ter)
|
rs2147282434
|
|
NM_002294.3(LAMP2):c.64G>T (p.Gly22Ter)
|
rs2147294800
|
|
NM_002294.3(LAMP2):c.653del (p.Pro218fs)
|
|
|
NM_002294.3(LAMP2):c.659dup (p.Gly221fs)
|
rs1556101640
|
|
NM_002294.3(LAMP2):c.696T>A (p.Cys232Ter)
|
rs1556101523
|
|
NM_002294.3(LAMP2):c.72_96del (p.Val24_Arg25insTer)
|
|
|
NM_002294.3(LAMP2):c.73_74delinsTA (p.Arg25Ter)
|
|
|
NM_002294.3(LAMP2):c.741+1G>A
|
rs1251075016
|
|
NM_002294.3(LAMP2):c.741+2T>A
|
rs2147282355
|
|
NM_002294.3(LAMP2):c.753dup (p.Ile252fs)
|
|
|
NM_002294.3(LAMP2):c.763_768delinsTGAAGT (p.Asn255_Pro256delinsTer)
|
rs2058596487
|
|
NM_002294.3(LAMP2):c.774_780del (p.Thr259fs)
|
|
|
NM_002294.3(LAMP2):c.788del (p.Gly263fs)
|
rs1060502303
|
|
NM_002294.3(LAMP2):c.843T>G (p.Tyr281Ter)
|
rs1569369194
|
|
NM_002294.3(LAMP2):c.864+3_864+6del
|
rs397516751
|
|
NM_002294.3(LAMP2):c.877C>T (p.Arg293Ter)
|
rs727503118
|
|
NM_002294.3(LAMP2):c.88G>T (p.Glu30Ter)
|
|
|
NM_002294.3(LAMP2):c.928G>A (p.Val310Ile)
|
rs104894858
|
|
NM_002294.3(LAMP2):c.928G>C (p.Val310Leu)
|
rs104894858
|
|
NM_002294.3(LAMP2):c.928G>T (p.Val310Phe)
|
rs104894858
|
|
NM_002294.3(LAMP2):c.929-197_1070del
|
rs2147278850
|
|
NM_002294.3(LAMP2):c.955del (p.Ser319fs)
|
rs2147278957
|
|
NM_002294.3(LAMP2):c.962G>A (p.Trp321Ter)
|
rs1060502306
|
|
NM_002294.3(LAMP2):c.973dup (p.Leu325fs)
|
rs1556092459
|
|
NM_002637.4(PHKA1):c.1531dup (p.Tyr511fs)
|
|
|
NM_002637.4(PHKA1):c.2460dup (p.Arg821fs)
|
|
|
NM_002637.4(PHKA1):c.2587C>T (p.Arg863Ter)
|
|
|
NM_002637.4(PHKA1):c.2683C>T (p.Gln895Ter)
|
|
|
NM_002637.4(PHKA1):c.2755C>T (p.Arg919Ter)
|
|
|
NM_002637.4(PHKA1):c.389G>A (p.Trp130Ter)
|
|
|
NM_002637.4(PHKA1):c.812_813dup (p.Asp272fs)
|
rs2147779873
|
|
NM_002637.4(PHKA1):c.892C>T (p.Arg298Ter)
|
rs1256371424
|
|
NM_002863.5(PYGL):c.1228A>T (p.Lys410Ter)
|
|
|
NM_002863.5(PYGL):c.1475G>A (p.Trp492Ter)
|
|
|
NM_002863.5(PYGL):c.1620+1G>T
|
rs113993981
|
|
NM_002863.5(PYGL):c.179_197del (p.Val60fs)
|
|
|
NM_002863.5(PYGL):c.1964_1969+4delinsGAAAAA
|
|
|
NM_002863.5(PYGL):c.2071G>C (p.Gly691Arg)
|
rs539898848
|
|
NM_002863.5(PYGL):c.514C>T (p.Arg172Ter)
|
|
|
NM_002863.5(PYGL):c.647G>A (p.Trp216Ter)
|
|
|
NM_002863.5(PYGL):c.772+2_772+3del
|
rs765425704
|
|
NM_003384.3(VRK1):c.103_104del (p.Lys35fs)
|
rs2139748811
|
|
NM_003384.3(VRK1):c.105_108del (p.Lys35fs)
|
|
|
NM_003384.3(VRK1):c.1061dup (p.Thr355fs)
|
|
|
NM_003384.3(VRK1):c.1066A>T (p.Lys356Ter)
|
rs1223645705
|
|
NM_003384.3(VRK1):c.1081_1084del (p.Glu361fs)
|
|
|
NM_003384.3(VRK1):c.1096_1097insTGAAGCA (p.Lys366fs)
|
rs2139845849
|
|
NM_003384.3(VRK1):c.110G>A (p.Trp37Ter)
|
rs2139748841
|
|
NM_003384.3(VRK1):c.1133_1136del (p.Thr378fs)
|
rs1889019962
|
|
NM_003384.3(VRK1):c.1144_1145insCTCG (p.Glu382fs)
|
|
|
NM_003384.3(VRK1):c.1144dup (p.Glu382fs)
|
|
|
NM_003384.3(VRK1):c.1149del (p.Ile384fs)
|
|
|
NM_003384.3(VRK1):c.1159+1G>A
|
rs774877872
|
|
NM_003384.3(VRK1):c.156T>A (p.Tyr52Ter)
|
rs1887100431
|
|
NM_003384.3(VRK1):c.159_160insCATATATCTT (p.Ala54fs)
|
|
|
NM_003384.3(VRK1):c.160+1del
|
|
|
NM_003384.3(VRK1):c.179_180del (p.Glu60fs)
|
rs2139759363
|
|
NM_003384.3(VRK1):c.222del (p.Ser75fs)
|
rs2139779014
|
|
NM_003384.3(VRK1):c.22C>T (p.Gln8Ter)
|
|
|
NM_003384.3(VRK1):c.280_284del (p.Glu94fs)
|
|
|
NM_003384.3(VRK1):c.31A>T (p.Arg11Ter)
|
|
|
NM_003384.3(VRK1):c.362_365del (p.Lys121fs)
|
rs772146380
|
|
NM_003384.3(VRK1):c.387dup (p.Ile130fs)
|
rs2139795550
|
|
NM_003384.3(VRK1):c.464T>A (p.Leu155Ter)
|
|
|
NM_003384.3(VRK1):c.500del (p.Tyr167fs)
|
|
|
NM_003384.3(VRK1):c.502_503del (p.Ile168fs)
|
|
|
NM_003384.3(VRK1):c.542C>G (p.Ser181Ter)
|
|
|
NM_003384.3(VRK1):c.542_543insGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGGCCTC (p.Ser181_Asn182insArgGlyGlySerArgLeuTer)
|
rs2139796429
|
|
NM_003384.3(VRK1):c.633_636del (p.Lys211fs)
|
|
|
NM_003384.3(VRK1):c.652A>T (p.Lys218Ter)
|
rs2139801958
|
|
NM_003384.3(VRK1):c.660T>A (p.Cys220Ter)
|
rs762979613
|
|
NM_003384.3(VRK1):c.706G>A (p.Val236Met)
|
rs771364038
|
|
NM_003384.3(VRK1):c.733G>T (p.Glu245Ter)
|
rs1200170208
|
|
NM_003384.3(VRK1):c.779del (p.Pro260fs)
|
|
|
NM_003384.3(VRK1):c.783G>A (p.Trp261Ter)
|
rs2139804073
|
|
NM_003384.3(VRK1):c.810T>G (p.Tyr270Ter)
|
|
|
NM_003384.3(VRK1):c.854del (p.Ser284_Leu285insTer)
|
|
|
NM_003384.3(VRK1):c.881del (p.Asn294fs)
|
|
|
NM_003384.3(VRK1):c.883_886del (p.Lys295fs)
|
rs779282547
|
|
NM_003384.3(VRK1):c.897del (p.Ile299fs)
|
rs2139814687
|
|
NM_003384.3(VRK1):c.913dup (p.Thr305fs)
|
rs2139814734
|
|
NM_003384.3(VRK1):c.950_951dup (p.Glu318fs)
|
|
|
NM_003384.3(VRK1):c.976C>T (p.Gln326Ter)
|
rs1566713184
|
|
NM_004130.4(GYG1):c.10C>T (p.Gln4Ter)
|
|
|
NM_004130.4(GYG1):c.154G>T (p.Glu52Ter)
|
rs1559834349
|
|
NM_004130.4(GYG1):c.221T>A (p.Leu74Ter)
|
|
|
NM_004130.4(GYG1):c.26dup (p.Thr10fs)
|
|
|
NM_004130.4(GYG1):c.352_353del (p.Glu118fs)
|
|
|
NM_004130.4(GYG1):c.384G>A (p.Trp128Ter)
|
|
|
NM_004130.4(GYG1):c.487del (p.Asp163fs)
|
rs727502871
|
|
NM_004130.4(GYG1):c.490C>T (p.Gln164Ter)
|
|
|
NM_004130.4(GYG1):c.646C>T (p.Arg216Ter)
|
|
|
NM_004130.4(GYG1):c.683del (p.Thr228fs)
|
|
|
NM_004130.4(GYG1):c.819T>A (p.Tyr273Ter)
|
rs1714533252
|
|
NM_004130.4(GYG1):c.82C>T (p.Gln28Ter)
|
|
|
NM_004130.4(GYG1):c.844_845insG (p.Tyr282Ter)
|
|
|
NM_004130.4(GYG1):c.844dup (p.Tyr282fs)
|
|
|
NM_004130.4(GYG1):c.93dup (p.Thr32fs)
|
|
|
NM_005271.5(GLUD1):c.1493C>T (p.Ser498Leu)
|
rs121909731
|
|
NM_005271.5(GLUD1):c.1507A>G (p.Lys503Glu)
|
rs2133777379
|
|
NM_005271.5(GLUD1):c.1519C>T (p.His507Tyr)
|
rs121909730
|
|
NM_005271.5(GLUD1):c.820C>T (p.Arg274Cys)
|
rs56275071
|
|
NM_005271.5(GLUD1):c.965G>A (p.Arg322His)
|
rs121909737
|
|
NM_005327.7(HADH):c.203dup (p.Ile70fs)
|
|
|
NM_005327.7(HADH):c.304_307dup (p.Ser103fs)
|
|
|
NM_005327.7(HADH):c.369del (p.Asn123_Leu124insTer)
|
|
|
NM_005327.7(HADH):c.493C>T (p.Arg165Ter)
|
|
|
NM_005327.7(HADH):c.516del (p.Phe172fs)
|
|
|
NM_005327.7(HADH):c.587del (p.Ser196fs)
|
rs745727504
|
|
NM_005327.7(HADH):c.64del (p.Ala22fs)
|
|
|
NM_005327.7(HADH):c.664_668del (p.Leu222fs)
|
|
|
NM_005566.4(LDHA):c.410C>A (p.Ser137Ter)
|
|
|
NM_005566.4(LDHA):c.505C>T (p.Arg169Ter)
|
|
|
NM_005566.4(LDHA):c.631_632dup (p.Leu211_Lys212insTer)
|
|
|
NM_005609.4(PYGM):c.1009C>T (p.Gln337Ter)
|
rs2135834746
|
|
NM_005609.4(PYGM):c.1010A>G (p.Gln337Arg)
|
|
|
NM_005609.4(PYGM):c.1044_1050dup (p.Met351fs)
|
|
|
NM_005609.4(PYGM):c.1045G>A (p.Glu349Lys)
|
|
|
NM_005609.4(PYGM):c.1072del (p.Glu358fs)
|
|
|
NM_005609.4(PYGM):c.108del (p.His37fs)
|
|
|
NM_005609.4(PYGM):c.1114del (p.Thr372fs)
|
|
|
NM_005609.4(PYGM):c.1119T>A (p.Cys373Ter)
|
rs2058377004
|
|
NM_005609.4(PYGM):c.112_122del (p.Phe38fs)
|
rs2058422018
|
|
NM_005609.4(PYGM):c.1138_1144del (p.Val380fs)
|
rs2135834073
|
|
NM_005609.4(PYGM):c.1162_1169delinsA (p.Trp388fs)
|
rs2058376262
|
|
NM_005609.4(PYGM):c.122_126del (p.Val41fs)
|
|
|
NM_005609.4(PYGM):c.1239_1239+1delinsAT
|
rs2135833743
|
|
NM_005609.4(PYGM):c.125del (p.Lys42fs)
|
|
|
NM_005609.4(PYGM):c.1278_1288dup (p.Ser430fs)
|
rs2058372554
|
|
NM_005609.4(PYGM):c.129_150del (p.Asp43fs)
|
rs2058421657
|
|
NM_005609.4(PYGM):c.1338_1341dup (p.Ala448fs)
|
|
|
NM_005609.4(PYGM):c.1352_1372del (p.His451_Ala457del)
|
|
|
NM_005609.4(PYGM):c.1358_1364del (p.Val453fs)
|
rs2135833005
|
|
NM_005609.4(PYGM):c.1362_1394del (p.Asn454_Leu464del)
|
|
|
NM_005609.4(PYGM):c.13_14del (p.Leu5fs)
|
rs772194378
|
|
NM_005609.4(PYGM):c.1403+1G>A
|
rs1191939323
|
|
NM_005609.4(PYGM):c.141del (p.Thr48fs)
|
|
|
NM_005609.4(PYGM):c.1466dup (p.Arg490fs)
|
rs886041476
|
|
NM_005609.4(PYGM):c.1468C>T (p.Arg490Trp)
|
|
|
NM_005609.4(PYGM):c.1469G>A (p.Arg490Gln)
|
|
|
NM_005609.4(PYGM):c.1477del (p.Leu493fs)
|
rs2058367842
|
|
NM_005609.4(PYGM):c.1507del (p.Val503fs)
|
rs1272600960
|
|
NM_005609.4(PYGM):c.1523del (p.Ile508fs)
|
rs2135831473
|
|
NM_005609.4(PYGM):c.1531del (p.Asp511fs)
|
rs2058363821
|
|
NM_005609.4(PYGM):c.1545_1546del (p.Leu516fs)
|
rs2058363627
|
|
NM_005609.4(PYGM):c.1561A>T (p.Lys521Ter)
|
rs1592410003
|
|
NM_005609.4(PYGM):c.157del (p.Tyr53fs)
|
rs2135842587
|
|
NM_005609.4(PYGM):c.164_168del (p.Ala55fs)
|
rs780193588
|
|
NM_005609.4(PYGM):c.1657G>T (p.Glu553Ter)
|
rs1311913891
|
|
NM_005609.4(PYGM):c.1673dup (p.Asn559fs)
|
|
|
NM_005609.4(PYGM):c.1717G>T (p.Glu573Ter)
|
rs752848974
|
|
NM_005609.4(PYGM):c.1761_1765del (p.Tyr588fs)
|
|
|
NM_005609.4(PYGM):c.1797del (p.Phe599fs)
|
rs769960481
|
|
NM_005609.4(PYGM):c.1853dup (p.Met619fs)
|
rs2135829844
|
|
NM_005609.4(PYGM):c.1948del (p.Arg650fs)
|
rs2058354383
|
|
NM_005609.4(PYGM):c.1956_1962del (p.Leu653fs)
|
|
|
NM_005609.4(PYGM):c.1996C>T (p.Gln666Ter)
|
|
|
NM_005609.4(PYGM):c.1A>C (p.Met1Leu)
|
rs267606993
|
|
NM_005609.4(PYGM):c.1A>G (p.Met1Val)
|
rs267606993
|
|
NM_005609.4(PYGM):c.1A>T (p.Met1Leu)
|
rs267606993
|
|
NM_005609.4(PYGM):c.204G>A (p.Trp68Ter)
|
rs1057516349
|
|
NM_005609.4(PYGM):c.2086dup (p.Ala696fs)
|
|
|
NM_005609.4(PYGM):c.2125TTC[1] (p.Phe710del)
|
rs527236147
|
|
NM_005609.4(PYGM):c.2146dup (p.Val716fs)
|
|
|
NM_005609.4(PYGM):c.2154del (p.Asp718fs)
|
rs2135828360
|
|
NM_005609.4(PYGM):c.2181dup (p.Asn728fs)
|
rs2058321851
|
|
NM_005609.4(PYGM):c.2188_2189del (p.Gln730fs)
|
|
|
NM_005609.4(PYGM):c.2199C>G (p.Tyr733Ter)
|
rs140102591
|
|
NM_005609.4(PYGM):c.21_28dup (p.Lys10fs)
|
rs770037766
|
|
NM_005609.4(PYGM):c.2255_2264dup (p.Gln755fs)
|
rs2058320138
|
|
NM_005609.4(PYGM):c.2259dup (p.Lys754fs)
|
rs1565531453
|
|
NM_005609.4(PYGM):c.225C>A (p.Tyr75Ter)
|
rs773361937
|
|
NM_005609.4(PYGM):c.2262del (p.Lys754fs)
|
rs398124210
|
|
NM_005609.4(PYGM):c.2275_2282del (p.Phe759fs)
|
|
|
NM_005609.4(PYGM):c.228T>A (p.Tyr76Ter)
|
|
|
NM_005609.4(PYGM):c.2319del (p.Val774fs)
|
rs1462767117
|
|
NM_005609.4(PYGM):c.2363_2366del (p.Val788fs)
|
rs1565531128
|
|
NM_005609.4(PYGM):c.2370del (p.Leu791fs)
|
|
|
NM_005609.4(PYGM):c.2379+2_2379+3delinsAT
|
rs2135823216
|
|
NM_005609.4(PYGM):c.2392T>A (p.Trp798Arg)
|
rs119103258
|
|
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg)
|
rs119103258
|
|
NM_005609.4(PYGM):c.2394del (p.Glu797_Trp798insTer)
|
|
|
NM_005609.4(PYGM):c.251_261del (p.Tyr84fs)
|
rs1057516329
|
|
NM_005609.4(PYGM):c.255C>A (p.Tyr85Ter)
|
rs527236146
|
|
NM_005609.4(PYGM):c.260_261del (p.Ser87fs)
|
rs757762109
|
|
NM_005609.4(PYGM):c.393del (p.Leu132fs)
|
|
|
NM_005609.4(PYGM):c.395_408del (p.Leu132fs)
|
rs1565538121
|
|
NM_005609.4(PYGM):c.398del (p.Gly133fs)
|
|
|
NM_005609.4(PYGM):c.3G>A (p.Met1Ile)
|
|
|
NM_005609.4(PYGM):c.403G>A (p.Gly135Arg)
|
rs780246932
|
|
NM_005609.4(PYGM):c.403G>C (p.Gly135Arg)
|
|
|
NM_005609.4(PYGM):c.407del (p.Gly136fs)
|
rs786204723
|
|
NM_005609.4(PYGM):c.415C>T (p.Arg139Trp)
|
rs367990192
|
|
NM_005609.4(PYGM):c.45_67del (p.Ser15fs)
|
|
|
NM_005609.4(PYGM):c.462dup (p.Ala155fs)
|
|
|
NM_005609.4(PYGM):c.485_486del (p.Arg161_Tyr162insTer)
|
|
|
NM_005609.4(PYGM):c.493_514del (p.Gly165fs)
|
rs2135839973
|
|
NM_005609.4(PYGM):c.501dup (p.Asn168Ter)
|
rs1555136390
|
|
NM_005609.4(PYGM):c.505C>T (p.Gln169Ter)
|
|
|
NM_005609.4(PYGM):c.506AGA[1] (p.Lys170del)
|
rs764823441
|
|
NM_005609.4(PYGM):c.521del (p.Gly174fs)
|
rs2058407169
|
|
NM_005609.4(PYGM):c.521dup (p.Trp175fs)
|
rs2058407169
|
|
NM_005609.4(PYGM):c.558C>G (p.Tyr186Ter)
|
|
|
NM_005609.4(PYGM):c.558del (p.Arg185_Tyr186insTer)
|
|
|
NM_005609.4(PYGM):c.55dup (p.Leu19fs)
|
|
|
NM_005609.4(PYGM):c.569G>A (p.Trp190Ter)
|
rs2135839308
|
|
NM_005609.4(PYGM):c.632del (p.Ser211fs)
|
rs759015176
|
|
NM_005609.4(PYGM):c.648G>A (p.Trp216Ter)
|
|
|
NM_005609.4(PYGM):c.658C>T (p.Gln220Ter)
|
|
|
NM_005609.4(PYGM):c.658_659del (p.Gln220fs)
|
rs766199191
|
|
NM_005609.4(PYGM):c.658del (p.Gln220fs)
|
|
|
NM_005609.4(PYGM):c.681C>A (p.Tyr227Ter)
|
rs377503100
|
|
NM_005609.4(PYGM):c.682del (p.Asp228fs)
|
rs2058388882
|
|
NM_005609.4(PYGM):c.699del (p.Tyr234fs)
|
|
|
NM_005609.4(PYGM):c.730del (p.Leu244fs)
|
rs2135836491
|
|
NM_005609.4(PYGM):c.734G>A (p.Trp245Ter)
|
rs2135836483
|
|
NM_005609.4(PYGM):c.772+1G>T
|
|
|
NM_005609.4(PYGM):c.776dup (p.Asn259fs)
|
|
|
NM_005609.4(PYGM):c.803del (p.Leu268fs)
|
|
|
NM_005609.4(PYGM):c.922del (p.Ile308fs)
|
|
|
NM_005908.4(MANBA):c.1096C>T (p.Arg366Ter)
|
|
|
NM_005908.4(MANBA):c.1101_1111del (p.Thr368fs)
|
|
|
NM_005908.4(MANBA):c.1153_1162del (p.Asn385fs)
|
|
|
NM_005908.4(MANBA):c.1156_1157del (p.Thr386fs)
|
|
|
NM_005908.4(MANBA):c.1169G>A (p.Trp390Ter)
|
|
|
NM_005908.4(MANBA):c.1234dup (p.Trp412fs)
|
|
|
NM_005908.4(MANBA):c.1235G>A (p.Trp412Ter)
|
|
|
NM_005908.4(MANBA):c.1312del (p.Tyr438fs)
|
|
|
NM_005908.4(MANBA):c.1422_1477dup (p.Val493delinsGlyGlnSerThrSerArgThrMetTer)
|
|
|
NM_005908.4(MANBA):c.1452_1453del (p.Tyr485fs)
|
rs764364492
|
|
NM_005908.4(MANBA):c.1453dup (p.Tyr485fs)
|
|
|
NM_005908.4(MANBA):c.1454_1455del (p.Tyr485fs)
|
rs1188116333
|
|
NM_005908.4(MANBA):c.1470del (p.Glu491fs)
|
|
|
NM_005908.4(MANBA):c.1534G>T (p.Glu512Ter)
|
|
|
NM_005908.4(MANBA):c.1540_1541del (p.Val514fs)
|
rs775574131
|
|
NM_005908.4(MANBA):c.1553G>A (p.Trp518Ter)
|
|
|
NM_005908.4(MANBA):c.1561C>T (p.Gln521Ter)
|
|
|
NM_005908.4(MANBA):c.1581T>A (p.Tyr527Ter)
|
|
|
NM_005908.4(MANBA):c.1623G>A (p.Trp541Ter)
|
|
|
NM_005908.4(MANBA):c.1644del (p.Ala549fs)
|
|
|
NM_005908.4(MANBA):c.1648C>T (p.Arg550Ter)
|
|
|
NM_005908.4(MANBA):c.1649del (p.Arg550fs)
|
|
|
NM_005908.4(MANBA):c.1724G>A (p.Trp575Ter)
|
|
|
NM_005908.4(MANBA):c.1733del (p.Asn578fs)
|
|
|
NM_005908.4(MANBA):c.1753C>T (p.Arg585Ter)
|
|
|
NM_005908.4(MANBA):c.1836dup (p.Arg613fs)
|
|
|
NM_005908.4(MANBA):c.2030G>A (p.Trp677Ter)
|
rs371368353
|
|
NM_005908.4(MANBA):c.2057del (p.Asn686fs)
|
|
|
NM_005908.4(MANBA):c.2072del (p.Leu691fs)
|
|
|
NM_005908.4(MANBA):c.2101_2102insTGTGACGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTGTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAGAATGAAAACA (p.Thr701delinsMetTer)
|
|
|
NM_005908.4(MANBA):c.2102_2103insAT (p.Phe702fs)
|
|
|
NM_005908.4(MANBA):c.2161A>T (p.Arg721Ter)
|
|
|
NM_005908.4(MANBA):c.2175dup (p.Ser726fs)
|
rs771465504
|
|
NM_005908.4(MANBA):c.2244C>A (p.Cys748Ter)
|
|
|
NM_005908.4(MANBA):c.2333_2334del (p.Asp778fs)
|
|
|
NM_005908.4(MANBA):c.320C>A (p.Ser107Ter)
|
|
|
NM_005908.4(MANBA):c.386del (p.Asp129fs)
|
|
|
NM_005908.4(MANBA):c.547A>T (p.Lys183Ter)
|
|
|
NM_005908.4(MANBA):c.63_64del (p.Ser22fs)
|
|
|
NM_005908.4(MANBA):c.677del (p.Lys226fs)
|
|
|
NM_005908.4(MANBA):c.692G>A (p.Trp231Ter)
|
|
|
NM_005908.4(MANBA):c.748C>T (p.Gln250Ter)
|
|
|
NM_005908.4(MANBA):c.780dup (p.Gln261fs)
|
|
|
NM_005908.4(MANBA):c.781C>T (p.Gln261Ter)
|
|
|
NM_005908.4(MANBA):c.784C>T (p.Gln262Ter)
|
|
|
NM_005908.4(MANBA):c.819del (p.Ile274fs)
|
|
|
NM_005908.4(MANBA):c.870G>A (p.Trp290Ter)
|
|
|
NM_005908.4(MANBA):c.873G>A (p.Trp291Ter)
|
|
|
NM_005908.4(MANBA):c.916del (p.Leu306fs)
|
|
|
NM_006765.4(TUSC3):c.420dup (p.Gln141fs)
|
rs773426468
|
|
NM_006859.4(LIAS):c.107dup (p.Glu37fs)
|
|
|
NM_006859.4(LIAS):c.130del (p.Asp44fs)
|
|
|
NM_006859.4(LIAS):c.212del (p.Gly71fs)
|
rs1417695501
|
|
NM_006859.4(LIAS):c.266dup (p.Asn89fs)
|
rs1355425067
|
|
NM_006859.4(LIAS):c.277del (p.Lys92_Leu93insTer)
|
rs1553934069
|
|
NM_006859.4(LIAS):c.280A>T (p.Lys94Ter)
|
|
|
NM_006859.4(LIAS):c.363del (p.Glu122fs)
|
rs1553934199
|
|
NM_006859.4(LIAS):c.367_389dup (p.Leu132fs)
|
|
|
NM_006859.4(LIAS):c.440dup (p.Thr148fs)
|
rs1744706299
|
|
NM_006859.4(LIAS):c.480del (p.Tyr161fs)
|
|
|
NM_006859.4(LIAS):c.520del (p.Tyr174fs)
|
rs760569998
|
|
NM_006859.4(LIAS):c.649C>T (p.Arg217Ter)
|
rs997841253
|
|
NM_006859.4(LIAS):c.64dup (p.Cys22fs)
|
rs960319940
|
|
NM_006859.4(LIAS):c.664_665delinsTA (p.Ala222Ter)
|
rs1744807781
|
|
NM_006859.4(LIAS):c.999dup (p.Val334fs)
|
rs2109887859
|
|
NM_012434.5(SLC17A5):c.1019dup (p.Leu340fs)
|
|
|
NM_012434.5(SLC17A5):c.1039C>T (p.Gln347Ter)
|
|
|
NM_012434.5(SLC17A5):c.1086del (p.Cys362fs)
|
|
|
NM_012434.5(SLC17A5):c.1121del (p.Gly374fs)
|
rs1057517119
|
|
NM_012434.5(SLC17A5):c.1223del (p.Ser408fs)
|
rs868677428
|
|
NM_012434.5(SLC17A5):c.1259+2T>C
|
rs1064794334
|
|
NM_012434.5(SLC17A5):c.1341del (p.Thr448fs)
|
|
|
NM_012434.5(SLC17A5):c.144dup (p.Gly49fs)
|
rs1562000876
|
|
NM_012434.5(SLC17A5):c.146del (p.Gly49fs)
|
rs2150120888
|
|
NM_012434.5(SLC17A5):c.157del (p.Val53fs)
|
rs2150120881
|
|
NM_012434.5(SLC17A5):c.1A>C (p.Met1Leu)
|
|
|
NM_012434.5(SLC17A5):c.1A>T (p.Met1Leu)
|
rs1304456183
|
|
NM_012434.5(SLC17A5):c.1del (p.Met1*)
|
|
|
NM_012434.5(SLC17A5):c.221T>A (p.Leu74Ter)
|
rs1474077825
|
|
NM_012434.5(SLC17A5):c.267del (p.Pro89_Ile90insTer)
|
|
|
NM_012434.5(SLC17A5):c.294_310del
|
|
|
NM_012434.5(SLC17A5):c.329G>A (p.Trp110Ter)
|
|
|
NM_012434.5(SLC17A5):c.349dup (p.Tyr117fs)
|
rs772039085
|
|
NM_012434.5(SLC17A5):c.3del (p.Met1fs)
|
|
|
NM_012434.5(SLC17A5):c.409del (p.Met137fs)
|
rs794729653
|
|
NM_012434.5(SLC17A5):c.43G>T (p.Glu15Ter)
|
rs727504157
|
|
NM_012434.5(SLC17A5):c.479del (p.Gly160fs)
|
|
|
NM_012434.5(SLC17A5):c.532dup (p.Thr178fs)
|
|
|
NM_012434.5(SLC17A5):c.575del (p.Pro192fs)
|
|
|
NM_012434.5(SLC17A5):c.579_580insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCCCCCCCCCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGGGGCTCCCCCTCTT (p.Leu193_Glu194insPhePhePhePhePhePheXaaXaaXaaXaaProProProProProSerArgThrGlyArgLeuAlaGlyGlnArgGlySerSerLeuProSerArgGlyGlyArgAlaGluGlyAlaProProLeu)
|
rs2150115214
|
|
NM_012434.5(SLC17A5):c.619C>T (p.Gln207Ter)
|
rs1769021763
|
|
NM_012434.5(SLC17A5):c.683_698del (p.Tyr228fs)
|
|
|
NM_012434.5(SLC17A5):c.684T>G (p.Tyr228Ter)
|
|
|
NM_012434.5(SLC17A5):c.699del (p.Phe233fs)
|
rs779548058
|
|
NM_012434.5(SLC17A5):c.699dup (p.Gly234fs)
|
|
|
NM_012434.5(SLC17A5):c.738G>A (p.Trp246Ter)
|
rs755923873
|
|
NM_012434.5(SLC17A5):c.744_747del (p.Ser249fs)
|
rs753141230
|
|
NM_012434.5(SLC17A5):c.757C>T (p.Gln253Ter)
|
|
|
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.829C>T (p.Gln277Ter)
|
rs1768174708
|
|
NM_012434.5(SLC17A5):c.860_863dup (p.Leu289fs)
|
rs2150099393
|
|
NM_012434.5(SLC17A5):c.905del (p.Asn302fs)
|
rs771156053
|
|
NM_012434.5(SLC17A5):c.908G>A (p.Trp303Ter)
|
|
|
NM_012434.5(SLC17A5):c.909G>A (p.Trp303Ter)
|
rs1057516601
|
|
NM_012434.5(SLC17A5):c.916del (p.Tyr306fs)
|
|
|
NM_012434.5(SLC17A5):c.923T>G (p.Leu308Ter)
|
rs766036082
|
|
NM_012434.5(SLC17A5):c.964_976del (p.Phe322fs)
|
rs2150099225
|
|
NM_012434.5(SLC17A5):c.976G>T (p.Glu326Ter)
|
rs745386414
|
|
NM_012434.5(SLC17A5):c.994del (p.Ser332fs)
|
|
|
NM_012434.5(SLC17A5):c.998del (p.Leu333fs)
|
rs779494716
|
|
NM_016042.4(EXOSC3):c.112del (p.Glu38fs)
|
rs587780333
|
|
NM_016042.4(EXOSC3):c.129del (p.Gly44fs)
|
|
|
NM_016042.4(EXOSC3):c.151C>T (p.Arg51Ter)
|
|
|
NM_016042.4(EXOSC3):c.155del (p.Pro52fs)
|
rs886041316
|
|
NM_016042.4(EXOSC3):c.167_174del (p.Asn56fs)
|
|
|
NM_016042.4(EXOSC3):c.174_183del (p.Arg58fs)
|
|
|
NM_016042.4(EXOSC3):c.180del (p.Ser61fs)
|
|
|
NM_016042.4(EXOSC3):c.1A>G (p.Met1Val)
|
|
|
NM_016042.4(EXOSC3):c.1A>T (p.Met1Leu)
|
|
|
NM_016042.4(EXOSC3):c.226dup (p.Asp76fs)
|
|
|
NM_016042.4(EXOSC3):c.294_303del (p.Val99fs)
|
rs672601331
|
|
NM_016042.4(EXOSC3):c.297_298insG (p.Tyr100fs)
|
|
|
NM_016042.4(EXOSC3):c.301del (p.Trp101fs)
|
|
|
NM_016042.4(EXOSC3):c.312_313del (p.Gln105fs)
|
|
|
NM_016042.4(EXOSC3):c.3G>A (p.Met1Ile)
|
|
|
NM_016042.4(EXOSC3):c.3G>T (p.Met1Ile)
|
rs1198691735
|
|
NM_016042.4(EXOSC3):c.404_407del (p.Gly135fs)
|
rs2118980158
|
|
NM_016042.4(EXOSC3):c.422del (p.Leu141fs)
|
|
|
NM_016042.4(EXOSC3):c.428_431del (p.Tyr143fs)
|
rs1296865764
|
|
NM_016042.4(EXOSC3):c.551del (p.Cys184fs)
|
|
|
NM_016042.4(EXOSC3):c.556C>T (p.Arg186Ter)
|
|
|
NM_016042.4(EXOSC3):c.714G>A (p.Trp238Ter)
|
|
|
NM_016203.4(PRKAG2):c.1006G>T (p.Val336Leu)
|
rs727504707
|
|
NM_016203.4(PRKAG2):c.1007T>C (p.Val336Ala)
|
rs2151024166
|
|
NM_016203.4(PRKAG2):c.1148A>G (p.His383Arg)
|
rs121908988
|
|
NM_016203.4(PRKAG2):c.1453A>G (p.Lys485Glu)
|
|
|
NM_016203.4(PRKAG2):c.1516G>A (p.Glu506Lys)
|
|
|
NM_016203.4(PRKAG2):c.1588C>G (p.His530Asp)
|
rs1804721948
|
|
NM_016203.4(PRKAG2):c.1589A>G (p.His530Arg)
|
rs267606977
|
|
NM_016203.4(PRKAG2):c.1592G>A (p.Arg531Gln)
|
rs121908991
|
|
NM_016203.4(PRKAG2):c.1592G>T (p.Arg531Leu)
|
rs121908991
|
|
NM_016203.4(PRKAG2):c.869A>T (p.Lys290Ile)
|
rs1808950153
|
|
NM_016203.4(PRKAG2):c.905G>C (p.Arg302Pro)
|
rs121908987
|
|
NM_016219.5(MAN1B1):c.1075G>T (p.Gly359Ter)
|
|
|
NM_016219.5(MAN1B1):c.1228del (p.Arg410fs)
|
|
|
NM_016219.5(MAN1B1):c.1236_1237del (p.Gly413_Asp414insTer)
|
|
|
NM_016219.5(MAN1B1):c.1241del (p.Asp414fs)
|
|
|
NM_016219.5(MAN1B1):c.1397_1398del (p.Tyr465_Tyr466insTer)
|
|
|
NM_016219.5(MAN1B1):c.242T>A (p.Leu81Ter)
|
rs2130986124
|
|
NM_016219.5(MAN1B1):c.772_775del (p.Leu258fs)
|
|
|
NM_021957.4(GYS2):c.1413_1416del (p.Asp471fs)
|
|
|
NM_021957.4(GYS2):c.376_377del (p.Asn126fs)
|
|
|
NM_021957.4(GYS2):c.465del (p.Phe155fs)
|
rs763929651
|
|
NM_021957.4(GYS2):c.574C>T (p.Arg192Ter)
|
rs150382575
|
|
NM_021957.4(GYS2):c.941+1G>C
|
rs587776831
|
|
NM_024989.4(PGAP1):c.1394_1397del (p.Ile465fs)
|
rs781325598
|
|
NM_024989.4(PGAP1):c.1867del (p.Cys623fs)
|
|
|
NM_024989.4(PGAP1):c.20del (p.Asn7fs)
|
|
|
NM_024989.4(PGAP1):c.2274C>G (p.Tyr758Ter)
|
rs1576086299
|
|
NM_024989.4(PGAP1):c.275del (p.Pro92fs)
|
|
|
NM_024989.4(PGAP1):c.427C>T (p.Gln143Ter)
|
rs1410587479
|
|
NM_031229.4(RBCK1):c.1111dup (p.Cys371fs)
|
|
|
NM_031229.4(RBCK1):c.1136G>A (p.Trp379Ter)
|
|
|
NM_031229.4(RBCK1):c.1258_1259dup (p.Arg421fs)
|
rs2122333654
|
|
NM_031229.4(RBCK1):c.1308+1G>T
|
rs1555787903
|
|
NM_031229.4(RBCK1):c.1386G>A (p.Trp462Ter)
|
|
|
NM_031229.4(RBCK1):c.325C>T (p.Arg109Ter)
|
rs1568554654
|
|
NM_031229.4(RBCK1):c.331C>T (p.Gln111Ter)
|
rs746197240
|
|
NM_031229.4(RBCK1):c.49C>T (p.Arg17Ter)
|
|
|
NM_031229.4(RBCK1):c.582+1G>C
|
rs1017046170
|
|
NM_031229.4(RBCK1):c.586_596del (p.Gly196fs)
|
rs1487503835
|
|
NM_031229.4(RBCK1):c.663del (p.Glu222fs)
|
rs2122245228
|
|
NM_031229.4(RBCK1):c.701_708dup (p.Ala238fs)
|
|
|
NM_031229.4(RBCK1):c.745C>T (p.Gln249Ter)
|
rs2016260522
|
|
NM_031229.4(RBCK1):c.751C>T (p.Gln251Ter)
|
rs2016261486
|
|
NM_031229.4(RBCK1):c.772C>T (p.Gln258Ter)
|
|
|
NM_031229.4(RBCK1):c.790C>T (p.Gln264Ter)
|
rs587777561
|
|
NM_031229.4(RBCK1):c.896_899del (p.Glu299fs)
|
rs727503764
|
|
NM_031229.4(RBCK1):c.949C>T (p.Gln317Ter)
|
rs2122281705
|
|
NM_033159.4(HYAL1):c.104del (p.Val35fs)
|
rs2109309063
|
|
NM_033159.4(HYAL1):c.110_134dup (p.Arg46fs)
|
|
|
NM_033159.4(HYAL1):c.133G>T (p.Glu45Ter)
|
rs1575517577
|
|
NM_033159.4(HYAL1):c.190C>T (p.Gln64Ter)
|
|
|
NM_033159.4(HYAL1):c.201del (p.Gly68fs)
|
|
|
NM_033159.4(HYAL1):c.221del (p.Phe74fs)
|
|
|
NM_033159.4(HYAL1):c.221dup (p.Tyr75fs)
|
rs1450097579
|
|
NM_033159.4(HYAL1):c.238_239del (p.Gly80fs)
|
rs782636282
|
|
NM_033159.4(HYAL1):c.250del (p.Tyr84fs)
|
|
|
NM_033159.4(HYAL1):c.268del (p.Glu90fs)
|
|
|
NM_033159.4(HYAL1):c.345_348dup (p.Ile117fs)
|
|
|
NM_033159.4(HYAL1):c.390G>A (p.Trp130Ter)
|
|
|
NM_033159.4(HYAL1):c.410G>A (p.Trp137Ter)
|
|
|
NM_033159.4(HYAL1):c.440del (p.Tyr147fs)
|
|
|
NM_033159.4(HYAL1):c.441C>G (p.Tyr147Ter)
|
rs1702209886
|
|
NM_033159.4(HYAL1):c.445C>T (p.Gln149Ter)
|
rs1702209367
|
|
NM_033159.4(HYAL1):c.44del (p.Leu15fs)
|
rs1553713469
|
|
NM_033159.4(HYAL1):c.4del (p.Ala2fs)
|
|
|
NM_033159.4(HYAL1):c.521_524dup (p.Phe175fs)
|
rs2109307739
|
|
NM_033159.4(HYAL1):c.545G>A (p.Trp182Ter)
|
|
|
NM_033159.4(HYAL1):c.546G>A (p.Trp182Ter)
|
rs1553713200
|
|
NM_033159.4(HYAL1):c.586_598del (p.Arg196fs)
|
rs1702201097
|
|
NM_033159.4(HYAL1):c.597G>A (p.Trp199Ter)
|
|
|
NM_033159.4(HYAL1):c.599del (p.Gly200fs)
|
|
|
NM_033159.4(HYAL1):c.621C>A (p.Cys207Ter)
|
rs1702200130
|
|
NM_033159.4(HYAL1):c.658C>T (p.Gln220Ter)
|
|
|
NM_033159.4(HYAL1):c.663_670dup (p.Gly224fs)
|
rs1702197212
|
|
NM_033159.4(HYAL1):c.691del (p.Gln231fs)
|
rs1553713128
|
|
NM_033159.4(HYAL1):c.707G>A (p.Trp236Ter)
|
rs2109307152
|
|
NM_033159.4(HYAL1):c.775C>T (p.Gln259Ter)
|
|
|
NM_033159.4(HYAL1):c.81del (p.Asn29fs)
|
rs781974681
|
|
NM_033159.4(HYAL1):c.85_88dup (p.Arg30fs)
|
|
|
NM_033159.4(HYAL1):c.937C>T (p.Gln313Ter)
|
rs2109304251
|
|
NM_152419.3(HGSNAT):c.1034_1049del (p.Ile345fs)
|
rs2130783645
|
|
NM_152419.3(HGSNAT):c.1048C>T (p.Gln350Ter)
|
rs752939204
|
|
NM_152419.3(HGSNAT):c.1051C>T (p.Arg351Ter)
|
rs756420301
|
|
NM_152419.3(HGSNAT):c.1054_1055insATCAATTTCTAATGGGATTTCCAGAGTTGAAAAAGACAAATATTCAGCTTTAGGAAGCACAGTTGAGTCCTGAGCAGTACAAATAAAAATATAGGCTGGGCACAGTGGCTCACATGTGTAATCCCAGCACTTTCGGAGGCTGAGGTGGGTGGATTGCTGGAGTCCAGCAGTTTGAAAACAGCCTGAGCAACATGGCAAGACCCCATCTCTACAAAAAATACAACAATTATCCGGGCATGGTGGCACAAGCCCGTAGTCCCAGCTACTCAGGAAGCTGAGGTGGATCGCTTGAGCCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCATTGCACTCCACACTGAATGACAGAGTGAGACTGTCTTAATAAAAAATATGAGTCAGCGTATAAGTTAAAAGGAGTTTTAAAAGATACTAATCCAAAAGAAGGCAGAAAAGGAGAAACATAATAGACTTACCAGCCCAATTTAAAAGTCAGGGATTATAAACATGAATTGAAGAAGTGAGACCCAGTTA (p.Leu352delinsTyrGlnPheLeuMetGlyPheProGluLeuLysLysThrAsnIleGlnLeuTer)
|
rs2130783742
|
|
NM_152419.3(HGSNAT):c.10del (p.Ala4fs)
|
|
|
NM_152419.3(HGSNAT):c.1102A>T (p.Lys368Ter)
|
rs954238515
|
|
NM_152419.3(HGSNAT):c.111del (p.Pro38fs)
|
rs1802484500
|
|
NM_152419.3(HGSNAT):c.1139del (p.Cys380fs)
|
|
|
NM_152419.3(HGSNAT):c.1153_1154insCTGG (p.Asp385fs)
|
|
|
NM_152419.3(HGSNAT):c.1170del (p.Trp390fs)
|
rs748387885
|
|
NM_152419.3(HGSNAT):c.1174C>T (p.Gln392Ter)
|
rs1804527418
|
|
NM_152419.3(HGSNAT):c.1245C>A (p.Cys415Ter)
|
rs375616017
|
|
NM_152419.3(HGSNAT):c.1271dup (p.Ile425fs)
|
rs1804565177
|
|
NM_152419.3(HGSNAT):c.127A>T (p.Lys43Ter)
|
|
|
NM_152419.3(HGSNAT):c.1323C>A (p.Tyr441Ter)
|
rs1804568176
|
|
NM_152419.3(HGSNAT):c.133dup (p.Arg45fs)
|
rs1220771600
|
|
NM_152419.3(HGSNAT):c.1360C>T (p.Gln454Ter)
|
rs1057518644
|
|
NM_152419.3(HGSNAT):c.1401del (p.Tyr468fs)
|
|
|
NM_152419.3(HGSNAT):c.1437dup (p.Ile480fs)
|
rs759057396
|
|
NM_152419.3(HGSNAT):c.1464+1del
|
rs2130810933
|
|
NM_152419.3(HGSNAT):c.1466C>A (p.Ala489Glu)
|
rs1554537586
|
|
NM_152419.3(HGSNAT):c.1508dup (p.Leu504fs)
|
rs2130819661
|
|
NM_152419.3(HGSNAT):c.150del (p.Met51fs)
|
rs1802737867
|
|
NM_152419.3(HGSNAT):c.1542+4dup
|
rs1401818080
|
|
NM_152419.3(HGSNAT):c.1610del (p.Leu537fs)
|
rs2130821307
|
|
NM_152419.3(HGSNAT):c.164T>A (p.Leu55Ter)
|
rs1586698317
|
|
NM_152419.3(HGSNAT):c.1674C>G (p.Tyr558Ter)
|
rs1554537841
|
|
NM_152419.3(HGSNAT):c.1691dup (p.Leu566fs)
|
|
|
NM_152419.3(HGSNAT):c.1700G>A (p.Trp567Ter)
|
rs1804781641
|
|
NM_152419.3(HGSNAT):c.244C>T (p.Gln82Ter)
|
|
|
NM_152419.3(HGSNAT):c.265C>T (p.Gln89Ter)
|
rs1803166332
|
|
NM_152419.3(HGSNAT):c.376G>T (p.Glu126Ter)
|
rs1803180587
|
|
NM_152419.3(HGSNAT):c.391G>T (p.Glu131Ter)
|
rs1803181154
|
|
NM_152419.3(HGSNAT):c.451del (p.Cys151fs)
|
|
|
NM_152419.3(HGSNAT):c.493+1G>C
|
|
|
NM_152419.3(HGSNAT):c.494-1G>A
|
|
|
NM_152419.3(HGSNAT):c.494-2A>G
|
|
|
NM_152419.3(HGSNAT):c.505dup (p.Ala169fs)
|
|
|
NM_152419.3(HGSNAT):c.518G>A (p.Gly173Asp)
|
rs370717845
|
|
NM_152419.3(HGSNAT):c.523dup (p.Ala175fs)
|
|
|
NM_152419.3(HGSNAT):c.525dup (p.Val176fs)
|
rs483352895
|
|
NM_152419.3(HGSNAT):c.557T>A (p.Leu186Ter)
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NM_152419.3(HGSNAT):c.610G>T (p.Glu204Ter)
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NM_152419.3(HGSNAT):c.634G>T (p.Glu212Ter)
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NM_152419.3(HGSNAT):c.679C>T (p.Gln227Ter)
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rs1803593441
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NM_152419.3(HGSNAT):c.682_740del (p.Pro228fs)
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rs2130745878
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NM_152419.3(HGSNAT):c.698dup (p.Ser234fs)
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NM_152419.3(HGSNAT):c.719del (p.Leu240fs)
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rs2130746148
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NM_152419.3(HGSNAT):c.739del (p.Arg247fs)
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rs1085307880
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NM_152419.3(HGSNAT):c.74_75del (p.Pro25fs)
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NM_152419.3(HGSNAT):c.781G>T (p.Gly261Ter)
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rs2130750698
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NM_152419.3(HGSNAT):c.793dup (p.Trp265fs)
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NM_152419.3(HGSNAT):c.852-1G>A
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rs1447092074
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NM_152419.3(HGSNAT):c.852-2A>G
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NM_152419.3(HGSNAT):c.852G>A (p.Trp284Ter)
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NM_152419.3(HGSNAT):c.86C>A (p.Ser29Ter)
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NM_152419.3(HGSNAT):c.87_100dup (p.Gln34fs)
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rs2130648345
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NM_152419.3(HGSNAT):c.884_885insTATTTTTTTTTATTTTTTTNNNNNNNNNNTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGATCTTCCATTTTTCT (p.Leu295_Ser296insIlePhePheTyrPhePheXaaXaaXaaXaaLeuAlaArgMetValSerIleSerTer)
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rs2130766198
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NM_152419.3(HGSNAT):c.887C>A (p.Ser296Ter)
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rs372933126
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NM_152419.3(HGSNAT):c.90dup (p.Arg31fs)
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rs2130648385
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NM_152419.3(HGSNAT):c.925A>T (p.Arg309Ter)
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rs1803878901
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NM_152419.3(HGSNAT):c.932del (p.Leu311fs)
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NM_152419.3(HGSNAT):c.947G>A (p.Trp316Ter)
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rs1554533211
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NM_152419.3(HGSNAT):c.959del (p.Leu320fs)
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NM_152419.3(HGSNAT):c.969C>A (p.Cys323Ter)
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NM_152419.3(HGSNAT):c.974G>A (p.Gly325Glu)
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rs753315223
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NM_198586.3(NHLRC1):c.1091C>A (p.Ser364Ter)
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rs78324544
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NM_198586.3(NHLRC1):c.1120G>T (p.Glu374Ter)
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NM_198586.3(NHLRC1):c.230del (p.Gly77fs)
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NM_198586.3(NHLRC1):c.37_38insTC (p.His13fs)
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rs1217276014
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NM_198586.3(NHLRC1):c.462dup (p.Asp155Ter)
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rs1157872508
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NM_198586.3(NHLRC1):c.519del (p.Asp173fs)
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NM_198586.3(NHLRC1):c.558_562del (p.His187fs)
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NM_198586.3(NHLRC1):c.612del (p.Phe204fs)
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rs1171412241
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NM_198586.3(NHLRC1):c.670_673del (p.Thr224fs)
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rs2150702964
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NM_198586.3(NHLRC1):c.742G>T (p.Glu248Ter)
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rs750055958
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NM_198586.3(NHLRC1):c.742del (p.Glu248fs)
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NM_198586.3(NHLRC1):c.799del (p.Val267fs)
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rs1362520746
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NM_198586.3(NHLRC1):c.799dup (p.Val267fs)
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rs1362520746
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NM_198586.3(NHLRC1):c.865_880del (p.Gly288_Val289insTer)
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rs1193841505
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