NM_000153.4(GALC):c.349A>G (p.Met117Val)
|
rs145580093
|
0.00057
|
NM_001953.5(TYMP):c.1159+5G>A
|
rs748559929
|
0.00030
|
NM_000287.4(PEX6):c.488G>C (p.Arg163Pro)
|
rs778791031
|
0.00024
|
NM_001370658.1(BTD):c.1145A>G (p.Asn382Ser)
|
rs201023772
|
0.00020
|
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys)
|
rs183105855
|
0.00019
|
NM_000520.6(HEXA):c.1475A>G (p.Asp492Gly)
|
rs761736583
|
0.00019
|
NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu)
|
rs201312386
|
0.00019
|
NM_000520.6(HEXA):c.545C>T (p.Pro182Leu)
|
rs148511084
|
0.00018
|
NM_000466.3(PEX1):c.627G>A (p.Met209Ile)
|
rs200752969
|
0.00016
|
NM_000520.6(HEXA):c.1229C>T (p.Ala410Val)
|
rs151251788
|
0.00015
|
NM_000153.4(GALC):c.266C>T (p.Pro89Leu)
|
rs201422931
|
0.00014
|
NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr)
|
rs181396238
|
0.00014
|
NM_002617.4(PEX10):c.275G>A (p.Arg92His)
|
rs375649043
|
0.00014
|
NM_000287.4(PEX6):c.2225T>C (p.Leu742Pro)
|
rs267608235
|
0.00012
|
NM_000520.6(HEXA):c.1178G>A (p.Arg393Gln)
|
rs370266293
|
0.00012
|
NM_000520.6(HEXA):c.1416G>C (p.Arg472Ser)
|
rs369117208
|
0.00012
|
NM_015506.3(MMACHC):c.364C>A (p.His122Asn)
|
rs372918203
|
0.00012
|
NM_000520.6(HEXA):c.10T>C (p.Ser4Pro)
|
rs146938346
|
0.00011
|
NM_001953.5(TYMP):c.1441C>T (p.Gln481Ter)
|
rs200735968
|
0.00011
|
NM_001953.5(TYMP):c.437G>A (p.Arg146His)
|
rs188802138
|
0.00011
|
NM_033305.3(VPS13A):c.4979C>G (p.Thr1660Ser)
|
rs139073067
|
0.00011
|
NM_000487.6(ARSA):c.511G>A (p.Asp171Asn)
|
rs74315466
|
0.00010
|
NM_000520.6(HEXA):c.581C>T (p.Ala194Val)
|
rs778947516
|
0.00010
|
NM_000784.4(CYP27A1):c.1017G>A (p.Thr339=)
|
rs200553205
|
0.00010
|
NM_001370658.1(BTD):c.382C>T (p.Arg128Cys)
|
rs137877018
|
0.00010
|
NM_133259.4(LRPPRC):c.3901-6T>G
|
rs553466522
|
0.00010
|
NM_000520.6(HEXA):c.38C>T (p.Ala13Val)
|
rs145666272
|
0.00009
|
NM_001370658.1(BTD):c.1395C>G (p.His465Gln)
|
rs201604102
|
0.00009
|
NM_002617.4(PEX10):c.760G>A (p.Gly254Ser)
|
rs761942658
|
0.00009
|
NM_133259.4(LRPPRC):c.3430C>T (p.Arg1144Cys)
|
rs760016065
|
0.00009
|
NM_133259.4(LRPPRC):c.587A>C (p.Asn196Thr)
|
rs199727887
|
0.00009
|
NM_000370.3(TTPA):c.358G>A (p.Ala120Thr)
|
rs143010236
|
0.00008
|
NM_001370658.1(BTD):c.986A>C (p.Asn329Thr)
|
rs200327983
|
0.00008
|
NM_000182.5(HADHA):c.1637A>G (p.Tyr546Cys)
|
rs370170143
|
0.00007
|
NM_000520.6(HEXA):c.1490A>G (p.Tyr497Cys)
|
rs147502219
|
0.00007
|
NM_000153.4(GALC):c.206G>A (p.Arg69Gln)
|
rs371523347
|
0.00006
|
NM_000466.3(PEX1):c.2843G>A (p.Arg948Gln)
|
rs535271603
|
0.00006
|
NM_000520.6(HEXA):c.1237C>T (p.Arg413Trp)
|
rs762494949
|
0.00006
|
NM_000520.6(HEXA):c.286G>A (p.Val96Ile)
|
rs868358306
|
0.00006
|
NM_001007792.1(NTRK1):c.33C>A (p.Pro11=)
|
rs145596747
|
0.00006
|
NM_133259.4(LRPPRC):c.1880G>A (p.Arg627His)
|
rs373011028
|
0.00006
|
NM_133259.4(LRPPRC):c.3578T>C (p.Ile1193Thr)
|
rs370537508
|
0.00006
|
NM_000153.4(GALC):c.23C>T (p.Ala8Val)
|
rs376511103
|
0.00005
|
NM_000287.4(PEX6):c.295C>T (p.Arg99Trp)
|
rs772383329
|
0.00005
|
NM_000520.6(HEXA):c.53G>A (p.Gly18Glu)
|
rs371133961
|
0.00005
|
NM_001370658.1(BTD):c.383G>A (p.Arg128His)
|
rs367902696
|
0.00005
|
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys)
|
rs369102875
|
0.00005
|
NM_000466.3(PEX1):c.2846G>A (p.Arg949Gln)
|
rs61750425
|
0.00004
|
NM_000487.6(ARSA):c.1175G>A (p.Arg392Gln)
|
rs199476391
|
0.00004
|
NM_000520.6(HEXA):c.1084A>G (p.Ile362Val)
|
rs771447407
|
0.00004
|
NM_000520.6(HEXA):c.1231G>A (p.Gly411Ser)
|
rs575121167
|
0.00004
|
NM_000521.4(HEXB):c.1367A>C (p.Tyr456Ser)
|
rs121907982
|
0.00004
|
NM_000784.4(CYP27A1):c.1582C>T (p.Gln528Ter)
|
rs376609492
|
0.00004
|
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln)
|
rs587778818
|
0.00004
|
NM_000784.4(CYP27A1):c.545T>C (p.Ile182Thr)
|
rs556745324
|
0.00004
|
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys)
|
rs397514345
|
0.00004
|
NM_001370658.1(BTD):c.261T>G (p.Ile87Met)
|
rs1024847163
|
0.00004
|
NM_002529.4(NTRK1):c.1428_1430dup (p.Ser477dup)
|
rs762942184
|
0.00004
|
NM_000108.5(DLD):c.161A>G (p.Tyr54Cys)
|
rs763303046
|
0.00003
|
NM_000153.4(GALC):c.157C>T (p.Arg53Trp)
|
rs752371343
|
0.00003
|
NM_000487.6(ARSA):c.514G>A (p.Gly172Ser)
|
rs74315271
|
0.00003
|
NM_000784.4(CYP27A1):c.674G>A (p.Arg225His)
|
rs753275244
|
0.00003
|
NM_001370658.1(BTD):c.1046C>T (p.Pro349Leu)
|
rs397514400
|
0.00003
|
NM_001370658.1(BTD):c.1471C>G (p.Gln491Glu)
|
rs397514427
|
0.00003
|
NM_001370658.1(BTD):c.604G>A (p.Asp202Asn)
|
rs200337373
|
0.00003
|
NM_002617.4(PEX10):c.932G>A (p.Arg311Gln)
|
rs724160001
|
0.00003
|
NM_002617.4(PEX10):c.979T>C (p.Ter327Arg)
|
rs779199089
|
0.00003
|
NM_015506.3(MMACHC):c.566G>A (p.Arg189His)
|
rs761221416
|
0.00003
|
NM_133259.4(LRPPRC):c.130C>G (p.Arg44Gly)
|
rs886056062
|
0.00003
|
NM_133259.4(LRPPRC):c.1369+5G>A
|
rs199628926
|
0.00003
|
NM_000108.5(DLD):c.1440A>G (p.Ile480Met)
|
rs772512477
|
0.00002
|
NM_000153.4(GALC):c.179C>T (p.Ala60Val)
|
rs759110815
|
0.00002
|
NM_000182.5(HADHA):c.2114T>A (p.Val705Asp)
|
rs1240187200
|
0.00002
|
NM_000182.5(HADHA):c.955G>A (p.Gly319Ser)
|
rs752317877
|
0.00002
|
NM_000286.3(PEX12):c.349A>G (p.Ile117Val)
|
rs767207001
|
0.00002
|
NM_000370.3(TTPA):c.661C>T (p.Arg221Trp)
|
rs35916840
|
0.00002
|
NM_000487.6(ARSA):c.251C>T (p.Pro84Leu)
|
rs6151411
|
0.00002
|
NM_000487.6(ARSA):c.604C>T (p.Arg202Cys)
|
rs374482942
|
0.00002
|
NM_000487.6(ARSA):c.991G>A (p.Glu331Lys)
|
rs398123419
|
0.00002
|
NM_000520.6(HEXA):c.259C>T (p.Arg87Trp)
|
rs573269641
|
0.00002
|
NM_000520.6(HEXA):c.497G>A (p.Arg166His)
|
rs398123442
|
0.00002
|
NM_000521.4(HEXB):c.1417+5G>A
|
rs763517499
|
0.00002
|
NM_000521.4(HEXB):c.1614-16_1615dup
|
rs1554037309
|
0.00002
|
NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr)
|
rs104893692
|
0.00002
|
NM_002617.4(PEX10):c.868C>G (p.His290Asp)
|
rs61752094
|
0.00002
|
NM_015506.3(MMACHC):c.840del (p.Gly281fs)
|
rs757384010
|
0.00002
|
NC_000005.10:g.74721699G>A
|
rs1407085233
|
0.00001
|
NM_000153.2(GALC):c.-261C>A
|
rs1307710694
|
0.00001
|
NM_000153.4(GALC):c.*12G>A
|
rs372641636
|
0.00001
|
NM_000153.4(GALC):c.*14A>G
|
rs143444570
|
0.00001
|
NM_000153.4(GALC):c.-17G>A
|
rs886050868
|
0.00001
|
NM_000153.4(GALC):c.1174T>C (p.Ser392Pro)
|
rs1200769534
|
0.00001
|
NM_000153.4(GALC):c.1187G>A (p.Arg396Gln)
|
rs887930208
|
0.00001
|
NM_000153.4(GALC):c.1895T>C (p.Leu632Pro)
|
rs1418694289
|
0.00001
|
NM_000153.4(GALC):c.1949T>C (p.Leu650Pro)
|
rs1249991480
|
0.00001
|
NM_000153.4(GALC):c.251A>G (p.Asp84Gly)
|
rs1555383882
|
0.00001
|
NM_000153.4(GALC):c.486C>A (p.Asp162Glu)
|
rs767286511
|
0.00001
|
NM_000153.4(GALC):c.582+5G>A
|
rs757016859
|
0.00001
|
NM_000153.4(GALC):c.916G>A (p.Ala306Thr)
|
rs1349064845
|
0.00001
|
NM_000153.4(GALC):c.927A>C (p.Leu309Phe)
|
rs758904079
|
0.00001
|
NM_000182.5(HADHA):c.2107G>A (p.Gly703Arg)
|
rs200438844
|
0.00001
|
NM_000182.5(HADHA):c.2241C>A (p.Cys747Ter)
|
rs768855989
|
0.00001
|
NM_000182.5(HADHA):c.646_657dup (p.Gly216_Asp219dup)
|
rs1316714458
|
0.00001
|
NM_000182.5(HADHA):c.914T>C (p.Ile305Thr)
|
rs137852774
|
0.00001
|
NM_000182.5(HADHA):c.982G>A (p.Gly328Arg)
|
rs796051970
|
0.00001
|
NM_000286.3(PEX12):c.1009C>T (p.Gln337Ter)
|
rs760739894
|
0.00001
|
NM_000286.3(PEX12):c.182_184dup (p.Glu61_Ile62insLys)
|
rs1412916235
|
0.00001
|
NM_000286.3(PEX12):c.785_787del (p.Asp262_Trp263delinsGly)
|
rs759584047
|
0.00001
|
NM_000287.4(PEX6):c.2356C>T (p.Arg786Trp)
|
rs267608239
|
0.00001
|
NM_000287.4(PEX6):c.2626C>T (p.Arg876Trp)
|
rs267608246
|
0.00001
|
NM_000288.4(PEX7):c.785C>T (p.Ser262Leu)
|
rs62653610
|
0.00001
|
NM_000318.3(PEX2):c.-17-2A>G
|
rs1289852067
|
0.00001
|
NM_000318.3(PEX2):c.782A>G (p.His261Arg)
|
rs749956542
|
0.00001
|
NM_000318.3(PEX2):c.916T>C (p.Ter306Gln)
|
rs1554584372
|
0.00001
|
NM_000370.3(TTPA):c.175C>T (p.Arg59Trp)
|
rs397515522
|
0.00001
|
NM_000466.3(PEX1):c.1777G>A (p.Gly593Arg)
|
rs61750407
|
0.00001
|
NM_000466.3(PEX1):c.2363T>C (p.Val788Ala)
|
rs886062505
|
0.00001
|
NM_000466.3(PEX1):c.2518_2520del (p.Asp840del)
|
rs1385204416
|
0.00001
|
NM_000466.3(PEX1):c.3823C>T (p.Arg1275Ter)
|
rs755549316
|
0.00001
|
NM_000487.6(ARSA):c.1195C>T (p.His399Tyr)
|
rs199476376
|
0.00001
|
NM_000487.6(ARSA):c.135C>A (p.Ser45Arg)
|
rs375493957
|
0.00001
|
NM_000487.6(ARSA):c.1471T>G (p.Cys491Gly)
|
rs199476388
|
0.00001
|
NM_000487.6(ARSA):c.674A>G (p.Tyr225Cys)
|
rs527640350
|
0.00001
|
NM_000487.6(ARSA):c.847G>T (p.Asp283Tyr)
|
rs199476386
|
0.00001
|
NM_000520.6(HEXA):c.*12C>T
|
rs532797279
|
0.00001
|
NM_000520.6(HEXA):c.1033G>A (p.Gly345Ser)
|
rs775322979
|
0.00001
|
NM_000520.6(HEXA):c.109T>A (p.Tyr37Asn)
|
rs759157781
|
0.00001
|
NM_000520.6(HEXA):c.1103A>G (p.Lys368Arg)
|
rs764291005
|
0.00001
|
NM_000520.6(HEXA):c.1275A>G (p.Ile425Met)
|
rs749368995
|
0.00001
|
NM_000520.6(HEXA):c.1319T>C (p.Leu440Pro)
|
rs752223090
|
0.00001
|
NM_000520.6(HEXA):c.134A>C (p.Gln45Pro)
|
rs144089645
|
0.00001
|
NM_000520.6(HEXA):c.1351C>G (p.Leu451Val)
|
rs28940871
|
0.00001
|
NM_000520.6(HEXA):c.1375A>G (p.Met459Val)
|
rs547192168
|
0.00001
|
NM_000520.6(HEXA):c.1393G>A (p.Asp465Asn)
|
rs750727201
|
0.00001
|
NM_000520.6(HEXA):c.260G>A (p.Arg87Gln)
|
rs766966378
|
0.00001
|
NM_000520.6(HEXA):c.346+2dup
|
rs1430416918
|
0.00001
|
NM_000520.6(HEXA):c.388G>C (p.Glu130Gln)
|
rs917904407
|
0.00001
|
NM_000520.6(HEXA):c.428G>T (p.Ser143Ile)
|
rs1273494297
|
0.00001
|
NM_000520.6(HEXA):c.535C>T (p.His179Tyr)
|
rs781493030
|
0.00001
|
NM_000520.6(HEXA):c.598G>A (p.Val200Met)
|
rs1800429
|
0.00001
|
NM_000520.6(HEXA):c.749G>T (p.Gly250Val)
|
rs121907959
|
0.00001
|
NM_000521.4(HEXB):c.1417G>A (p.Gly473Ser)
|
rs762892362
|
0.00001
|
NM_000521.4(HEXB):c.1615C>T (p.Arg539Cys)
|
rs749646826
|
0.00001
|
NM_000521.4(HEXB):c.341_343del (p.Glu114_Pro115delinsAla)
|
rs768218036
|
0.00001
|
NM_000521.4(HEXB):c.448A>C (p.Thr150Pro)
|
rs938611392
|
0.00001
|
NM_000521.4(HEXB):c.512-3C>A
|
rs1376742145
|
0.00001
|
NM_000521.4(HEXB):c.558+5G>A
|
rs892920643
|
0.00001
|
NM_000543.5(SMPD1):c.1299T>G (p.Cys433Trp)
|
rs398123475
|
0.00001
|
NM_000784.4(CYP27A1):c.1175A>C (p.Glu392Ala)
|
rs1245201394
|
0.00001
|
NM_000784.4(CYP27A1):c.1537C>T (p.Arg513Cys)
|
rs560108684
|
0.00001
|
NM_000784.4(CYP27A1):c.1588C>T (p.Gln530Ter)
|
rs747389432
|
0.00001
|
NM_000784.4(CYP27A1):c.1591del (p.Cys531fs)
|
rs755723759
|
0.00001
|
NM_000784.4(CYP27A1):c.203T>G (p.Phe68Cys)
|
rs587780327
|
0.00001
|
NM_000784.4(CYP27A1):c.409C>T (p.Arg137Trp)
|
rs72551312
|
0.00001
|
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=)
|
rs587778796
|
0.00001
|
NM_001370658.1(BTD):c.-59T>A
|
rs768258310
|
0.00001
|
NM_001370658.1(BTD):c.-74G>A
|
rs200884349
|
0.00001
|
NM_001370658.1(BTD):c.1151C>T (p.Thr384Ile)
|
rs397514405
|
0.00001
|
NM_001370658.1(BTD):c.1333G>T (p.Gly445Cys)
|
rs746099217
|
0.00001
|
NM_001370658.1(BTD):c.1379G>A (p.Gly460Glu)
|
rs558477960
|
0.00001
|
NM_001370658.1(BTD):c.176G>A (p.Arg59His)
|
rs397514343
|
0.00001
|
NM_001370658.1(BTD):c.250-15del
|
rs587783008
|
0.00001
|
NM_001370658.1(BTD):c.296A>G (p.Asn99Ser)
|
rs397514353
|
0.00001
|
NM_001370658.1(BTD):c.409C>T (p.Arg137Cys)
|
rs397514363
|
0.00001
|
NM_001370658.1(BTD):c.425C>T (p.Ala142Val)
|
rs397514364
|
0.00001
|
NM_001370658.1(BTD):c.455A>G (p.Asn152Ser)
|
rs397514366
|
0.00001
|
NM_001370658.1(BTD):c.523A>G (p.Asn175Asp)
|
rs397514370
|
0.00001
|
NM_001370658.1(BTD):c.572G>A (p.Arg191His)
|
rs112195009
|
0.00001
|
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr)
|
rs397514382
|
0.00001
|
NM_001370658.1(BTD):c.697C>T (p.Pro233Ser)
|
rs397514383
|
0.00001
|
NM_001370658.1(BTD):c.704T>C (p.Ile235Thr)
|
rs397514384
|
0.00001
|
NM_001370658.1(BTD):c.875G>A (p.Gly292Asp)
|
rs377651057
|
0.00001
|
NM_002495.4(NDUFS4):c.512_514dup (p.Arg171_Val172insGly)
|
rs1425486695
|
0.00001
|
NM_002617.4(PEX10):c.827G>T (p.Cys276Phe)
|
rs1414973726
|
0.00001
|
NM_002617.4(PEX10):c.913-2A>C
|
rs758250423
|
0.00001
|
NM_002617.4(PEX10):c.977G>A (p.Arg326His)
|
rs140890506
|
0.00001
|
NM_015506.3(MMACHC):c.349G>C (p.Ala117Pro)
|
rs752205161
|
0.00001
|
NM_015506.3(MMACHC):c.403G>T (p.Val135Leu)
|
rs886046368
|
0.00001
|
NM_015506.3(MMACHC):c.849A>G (p.Ter283Trp)
|
rs769732556
|
0.00001
|
NM_033305.3(VPS13A):c.7811G>A (p.Arg2604His)
|
rs762985818
|
0.00001
|
NM_133259.4(LRPPRC):c.1582+7A>G
|
rs863225446
|
0.00001
|
NM_133259.4(LRPPRC):c.1863T>G (p.Asn621Lys)
|
rs762224854
|
0.00001
|
NM_133259.4(LRPPRC):c.4128dup (p.Glu1377Ter)
|
rs1163476569
|
0.00001
|
NC_000005.10:g.74721757dup
|
rs1554037537
|
|
NC_000005.10:g.74721765G>A
|
rs35080306
|
|
NC_000014.9:g.87925139C>T
|
rs1555377065
|
|
NC_000014.9:g.87925152T>C
|
rs1555377066
|
|
NC_000014.9:g.87925176G>A
|
rs1234372203
|
|
NC_000014.9:g.87993382C>G
|
rs1555384433
|
|
NM_000108.5(DLD):c.1463del (p.Pro488fs)
|
rs1554400720
|
|
NM_000108.5(DLD):c.1528T>C (p.Ter510Arg)
|
rs1554400769
|
|
NM_000108.5(DLD):c.439-6G>C
|
rs369208046
|
|
NM_000153.2(GALC):c.-219dup
|
rs1555384436
|
|
NM_000153.2(GALC):c.-234delGinsTTCC
|
rs1555384440
|
|
NM_000153.2(GALC):c.-257dup
|
rs1555384444
|
|
NM_000153.2(GALC):c.-285dup
|
rs1482465546
|
|
NM_000153.2(GALC):c.-296dup
|
rs1555384458
|
|
NM_000153.2(GALC):c.-317delG
|
rs1555384465
|
|
NM_000153.4(GALC):c.1162-5_1162-4delinsC
|
rs1555379806
|
|
NM_000153.4(GALC):c.1162-6_1162-5delinsA
|
rs1555379811
|
|
NM_000153.4(GALC):c.119G>A (p.Gly40Asp)
|
rs572947747
|
|
NM_000153.4(GALC):c.1376A>G (p.His459Arg)
|
rs755193670
|
|
NM_000153.4(GALC):c.1468T>A (p.Tyr490Asn)
|
rs202135871
|
|
NM_000153.4(GALC):c.1519T>C (p.Phe507Leu)
|
rs1555379155
|
|
NM_000153.4(GALC):c.1543G>A (p.Glu515Lys)
|
rs794727116
|
|
NM_000153.4(GALC):c.1774G>T (p.Ala592Ser)
|
rs1360345372
|
|
NM_000153.4(GALC):c.1987T>G (p.Trp663Gly)
|
rs1060499761
|
|
NM_000153.4(GALC):c.203C>T (p.Ser68Phe)
|
rs1555383892
|
|
NM_000153.4(GALC):c.555_575del (p.His186_Tyr192del)
|
rs1555383500
|
|
NM_000153.4(GALC):c.583A>G (p.Ile195Val)
|
rs1555383309
|
|
NM_000153.4(GALC):c.621G>A (p.Lys207=)
|
rs1428763453
|
|
NM_000153.4(GALC):c.691G>A (p.Glu231Lys)
|
rs542231350
|
|
NM_000153.4(GALC):c.832A>G (p.Thr278Ala)
|
rs886042645
|
|
NM_000182.5(HADHA):c.1220+2_1220+5dup
|
rs1553313192
|
|
NM_000182.5(HADHA):c.1493A>G (p.His498Arg)
|
rs752005568
|
|
NM_000182.5(HADHA):c.1705AAG[1] (p.Lys570del)
|
rs1553312059
|
|
NM_000182.5(HADHA):c.1712T>C (p.Leu571Pro)
|
rs1553312058
|
|
NM_000182.5(HADHA):c.1828C>G (p.Arg610Gly)
|
rs267599303
|
|
NM_000182.5(HADHA):c.1917_1919dup (p.Tyr639_Gln640insHis)
|
rs796051971
|
|
NM_000182.5(HADHA):c.2102A>G (p.Asp701Gly)
|
rs1553311698
|
|
NM_000182.5(HADHA):c.2226_2228dup (p.Gln743dup)
|
rs1553311646
|
|
NM_000182.5(HADHA):c.2273_2276dup (p.Lys760fs)
|
rs1553311633
|
|
NM_000182.5(HADHA):c.2TGG[1] (p.Val2del)
|
rs1553316724
|
|
NM_000182.5(HADHA):c.403A>G (p.Lys135Glu)
|
rs794727700
|
|
NM_000182.5(HADHA):c.574-4dup
|
rs763636903
|
|
NM_000182.5(HADHA):c.975G>A (p.Gln325=)
|
rs751970693
|
|
NM_000286.3(PEX12):c.-26G>A
|
rs727504080
|
|
NM_000286.3(PEX12):c.1023del (p.Thr342fs)
|
rs1555549723
|
|
NM_000286.3(PEX12):c.1070_1071del (p.Pro357fs)
|
rs1555549722
|
|
NM_000286.3(PEX12):c.18_41del (p.His7_Ala14del)
|
rs1555549917
|
|
NM_000286.3(PEX12):c.201TCT[1] (p.Leu70del)
|
rs61752098
|
|
NM_000286.3(PEX12):c.353T>C (p.Met118Thr)
|
rs879075660
|
|
NM_000286.3(PEX12):c.362TTC[2] (p.Leu123del)
|
rs751058068
|
|
NM_000286.3(PEX12):c.392_400del (p.Glu131_Leu133del)
|
rs1458853023
|
|
NM_000286.3(PEX12):c.865_870del (p.Asp289_Tyr290del)
|
rs1366848752
|
|
NM_000286.3(PEX12):c.949C>T (p.Leu317Phe)
|
rs61752112
|
|
NM_000286.3(PEX12):c.987_988del (p.Phe330fs)
|
rs764657253
|
|
NM_000287.4(PEX6):c.1238G>T (p.Gly413Val)
|
rs1554127531
|
|
NM_000287.4(PEX6):c.133_147dup (p.Glu45_Gly49dup)
|
rs1421584986
|
|
NM_000287.4(PEX6):c.1440TGC[2] (p.Ala483del)
|
rs1554127389
|
|
NM_000287.4(PEX6):c.202_219del (p.Gly68_Gln73del)
|
rs1162020526
|
|
NM_000287.4(PEX6):c.254_259dup (p.Ala85_Leu86dup)
|
rs1554128546
|
|
NM_000287.4(PEX6):c.275_280dup (p.Val92_Arg93dup)
|
rs61752142
|
|
NM_000287.4(PEX6):c.2764_2765del (p.Met922fs)
|
rs1554126781
|
|
NM_000287.4(PEX6):c.35T>C (p.Phe12Ser)
|
rs61752139
|
|
NM_000287.4(PEX6):c.541GTG[1] (p.Val182del)
|
rs1554128449
|
|
NM_000287.4(PEX6):c.548CCT[1] (p.Ser184del)
|
rs1554128446
|
|
NM_000287.4(PEX6):c.654C>G (p.Phe218Leu)
|
rs886037779
|
|
NM_000287.4(PEX6):c.659G>T (p.Gly220Val)
|
rs267608203
|
|
NM_000287.4(PEX6):c.718G>A (p.Ala240Thr)
|
rs886061412
|
|
NM_000288.4(PEX7):c.-3G>A
|
rs886061117
|
|
NM_000288.4(PEX7):c.-46_-38dup
|
rs1554328233
|
|
NM_000288.4(PEX7):c.122G>T (p.Gly41Val)
|
rs61753239
|
|
NM_000288.4(PEX7):c.225G>C (p.Trp75Cys)
|
rs1554328961
|
|
NM_000288.4(PEX7):c.37_45dup (p.Arg13_Pro15dup)
|
rs1554328282
|
|
NM_000288.4(PEX7):c.490T>C (p.Ser164Pro)
|
rs62653607
|
|
NM_000288.4(PEX7):c.733A>T (p.Ile245Phe)
|
rs750815894
|
|
NM_000288.4(PEX7):c.901C>T (p.Gln301Ter)
|
rs374763007
|
|
NM_000288.4(PEX7):c.904-1G>A
|
rs1413838301
|
|
NM_000288.4(PEX7):c.917del (p.Ser306fs)
|
rs1554337182
|
|
NM_000288.4(PEX7):c.931del (p.Thr310_Ile311insTer)
|
rs1554337188
|
|
NM_000288.4(PEX7):c.970T>G (p.Ter324Gly)
|
rs988988279
|
|
NM_000288.4(PEX7):c.971G>C (p.Ter324Ser)
|
rs374574552
|
|
NM_000318.3(PEX2):c.349GAA[1] (p.Glu118del)
|
rs1554584507
|
|
NM_000318.3(PEX2):c.701_706del (p.Asp234_Thr236delinsAla)
|
rs1554584423
|
|
NM_000318.3(PEX2):c.857_859del (p.Glu286del)
|
rs1460738027
|
|
NM_000318.3(PEX2):c.884C>G (p.Ser295Ter)
|
rs1554584377
|
|
NM_000370.3(TTPA):c.-1C>T
|
rs1349901379
|
|
NM_000370.3(TTPA):c.254_259dup (p.Asp86_Leu87insProAsp)
|
rs1554524054
|
|
NM_000370.3(TTPA):c.552G>T (p.Thr184=)
|
rs181109321
|
|
NM_000370.3(TTPA):c.807T>A (p.Tyr269Ter)
|
rs1554605276
|
|
NM_000466.2(PEX1):c.2010_2018del (p.Ala672_Pro674del)
|
rs1357462196
|
|
NM_000466.3(PEX1):c.1101_1121del (p.Gln367_Asp373del)
|
rs1554375280
|
|
NM_000466.3(PEX1):c.122TGC[3] (p.Leu42dup)
|
rs1554378340
|
|
NM_000466.3(PEX1):c.1524AAAAGA[1] (p.508EK[1])
|
rs1554373613
|
|
NM_000466.3(PEX1):c.1593_1595del (p.Leu532del)
|
rs1554373273
|
|
NM_000466.3(PEX1):c.1670+5G>T
|
rs201343162
|
|
NM_000466.3(PEX1):c.1729C>A (p.Arg577Ser)
|
rs200991412
|
|
NM_000466.3(PEX1):c.2039_2050del (p.Pro680_Val683del)
|
rs1554372090
|
|
NM_000466.3(PEX1):c.2140_2145dup (p.712_713SQ[3])
|
rs1554371691
|
|
NM_000466.3(PEX1):c.2262_2264del (p.Lys754del)
|
rs1554371157
|
|
NM_000466.3(PEX1):c.2400_2402dup (p.Ile801dup)
|
rs1554371019
|
|
NM_000466.3(PEX1):c.2633TGT[1] (p.Leu879del)
|
rs886043984
|
|
NM_000466.3(PEX1):c.2817TGA[1] (p.Asp940del)
|
rs1554368794
|
|
NM_000466.3(PEX1):c.3038G>A (p.Arg1013His)
|
rs1484321655
|
|
NM_000466.3(PEX1):c.3077T>C (p.Leu1026Pro)
|
rs954814470
|
|
NM_000466.3(PEX1):c.3119_3130del (p.Asp1040_Thr1043del)
|
rs1554368148
|
|
NM_000466.3(PEX1):c.36_38dup (p.Gly14dup)
|
rs1554378403
|
|
NM_000466.3(PEX1):c.3732_3736dup (p.Ser1246fs)
|
rs1554366550
|
|
NM_000466.3(PEX1):c.3767+1_3767+2dup
|
rs1383361108
|
|
NM_000466.3(PEX1):c.3768-1G>A
|
rs770868309
|
|
NM_000466.3(PEX1):c.3768-2A>T
|
rs1554365998
|
|
NM_000466.3(PEX1):c.3807_3808dup (p.Ser1270fs)
|
rs758748151
|
|
NM_000466.3(PEX1):c.578A>G (p.Asp193Gly)
|
rs886062507
|
|
NM_000487.6(ARSA):c.-15A>G
|
rs909454884
|
|
NM_000487.6(ARSA):c.-35_-8del
|
rs759081183
|
|
NM_000487.6(ARSA):c.109_126dup (p.Asp37_Gly42dup)
|
rs1555901139
|
|
NM_000487.6(ARSA):c.1108-3C>G
|
rs1001100248
|
|
NM_000487.6(ARSA):c.1490_1492del (p.Pro497del)
|
rs774153480
|
|
NM_000487.6(ARSA):c.257G>T (p.Arg86Leu)
|
rs74315458
|
|
NM_000487.6(ARSA):c.398_409del (p.Glu133_Leu137delinsVal)
|
rs1555901024
|
|
NM_000487.6(ARSA):c.413C>T (p.Pro138Leu)
|
rs74315462
|
|
NM_000487.6(ARSA):c.418C>G (p.His140Asp)
|
rs199476358
|
|
NM_000487.6(ARSA):c.684+2dup
|
rs1555900843
|
|
NM_000487.6(ARSA):c.917C>T (p.Thr306Met)
|
rs199476359
|
|
NM_000487.6(ARSA):c.922T>C (p.Tyr308His)
|
rs199476379
|
|
NM_000487.6(ARSA):c.946G>A (p.Ala316Thr)
|
rs199476368
|
|
NM_000520.6(HEXA):c.-1dup (p.Met1fs)
|
rs1555475553
|
|
NM_000520.6(HEXA):c.-7_1del (p.Met1fs)
|
rs759154405
|
|
NM_000520.6(HEXA):c.1003A>T (p.Ile335Phe)
|
rs1555472604
|
|
NM_000520.6(HEXA):c.1008G>C (p.Gln336His)
|
rs1555472602
|
|
NM_000520.6(HEXA):c.101A>G (p.Asp34Gly)
|
rs1555475512
|
|
NM_000520.6(HEXA):c.1022A>G (p.Lys341Arg)
|
rs1417593132
|
|
NM_000520.6(HEXA):c.1074-7_1074-3del
|
rs759219683
|
|
NM_000520.6(HEXA):c.1087G>A (p.Val363Ile)
|
rs557550173
|
|
NM_000520.6(HEXA):c.1146+18A>G
|
rs1555472543
|
|
NM_000520.6(HEXA):c.1189C>T (p.Pro397Ser)
|
rs778878211
|
|
NM_000520.6(HEXA):c.1214_1219del (p.403_404EL[1])
|
rs1555472429
|
|
NM_000520.6(HEXA):c.1361G>A (p.Gly454Asp)
|
rs1229811721
|
|
NM_000520.6(HEXA):c.1453T>C (p.Trp485Arg)
|
rs121907968
|
|
NM_000520.6(HEXA):c.1511G>T (p.Arg504Leu)
|
rs121907955
|
|
NM_000520.6(HEXA):c.1571del (p.Gln524fs)
|
rs1555472158
|
|
NM_000520.6(HEXA):c.1578del (p.Phe526fs)
|
rs1555472157
|
|
NM_000520.6(HEXA):c.211C>G (p.Leu71Val)
|
rs775000497
|
|
NM_000520.6(HEXA):c.218_219insAAA (p.Phe73delinsLeuAsn)
|
rs1555475468
|
|
NM_000520.6(HEXA):c.304C>T (p.Pro102Ser)
|
rs1217876329
|
|
NM_000520.6(HEXA):c.446CTG[1] (p.Ala150del)
|
rs1555473140
|
|
NM_000520.6(HEXA):c.530C>G (p.Ser177Cys)
|
rs1064794856
|
|
NM_000520.6(HEXA):c.590A>C (p.Lys197Thr)
|
rs121907973
|
|
NM_000520.6(HEXA):c.607T>G (p.Trp203Gly)
|
rs1002712424
|
|
NM_000520.6(HEXA):c.611A>G (p.His204Arg)
|
rs121907976
|
|
NM_000520.6(HEXA):c.736G>A (p.Ala246Thr)
|
rs758166013
|
|
NM_000520.6(HEXA):c.748G>A (p.Gly250Ser)
|
rs1057521137
|
|
NM_000520.6(HEXA):c.941A>T (p.Asp314Val)
|
rs1555472696
|
|
NM_000521.4(HEXB):c.*4dup (p.Ter557=)
|
rs771506320
|
|
NM_000521.4(HEXB):c.127G>T (p.Ala43Ser)
|
rs797045614
|
|
NM_000521.4(HEXB):c.1425GAAACA[1] (p.476KQ[1])
|
rs750595127
|
|
NM_000521.4(HEXB):c.1613+15_1613+18dup
|
rs779273534
|
|
NM_000521.4(HEXB):c.1614-25_1614-7dup
|
rs1554037306
|
|
NM_000521.4(HEXB):c.1614-8_1614-6dup
|
rs1271274603
|
|
NM_000521.4(HEXB):c.1627_1638del (p.Ala543_Leu546del)
|
rs1554037322
|
|
NM_000521.4(HEXB):c.1652G>A (p.Cys551Tyr)
|
rs727503961
|
|
NM_000521.4(HEXB):c.230_232del (p.Phe77del)
|
rs1554034490
|
|
NM_000521.4(HEXB):c.343_351del (p.Pro115_Glu117del)
|
rs760427424
|
|
NM_000521.4(HEXB):c.61_72del (p.Thr21_Ala24del)
|
rs1554034424
|
|
NM_000521.4(HEXB):c.62_76del (p.Thr21_Ala25del)
|
rs887796660
|
|
NM_000521.4(HEXB):c.70_90del (p.Ala24_Leu30del)
|
rs1554034426
|
|
NM_000521.4(HEXB):c.73_84del (p.Ala25_Ala28del)
|
rs745791892
|
|
NM_000521.4(HEXB):c.88_105del (p.Leu30_Leu35del)
|
rs1554034432
|
|
NM_000784.4(CYP27A1):c.1017G>T (p.Thr339=)
|
rs200553205
|
|
NM_000784.4(CYP27A1):c.1028C>G (p.Thr343Arg)
|
rs372194079
|
|
NM_000784.4(CYP27A1):c.1174G>A (p.Glu392Lys)
|
rs1553616443
|
|
NM_000784.4(CYP27A1):c.1183C>A (p.Arg395Ser)
|
rs121908096
|
|
NM_000784.4(CYP27A1):c.1209C>G (p.Asn403Lys)
|
rs587778781
|
|
NM_000784.4(CYP27A1):c.1514_1516del (p.Thr505_Gly506delinsArg)
|
rs1400183633
|
|
NM_000784.4(CYP27A1):c.1538G>A (p.Arg513His)
|
rs144701596
|
|
NM_000784.4(CYP27A1):c.1589del (p.Gln530fs)
|
rs1553616552
|
|
NM_000784.4(CYP27A1):c.1596del (p.Ter532TrpextTer?)
|
rs1553616555
|
|
NM_000784.4(CYP27A1):c.172GAG[1] (p.Glu59del)
|
rs766316288
|
|
NM_000784.4(CYP27A1):c.1A>G (p.Met1Val)
|
rs1446633660
|
|
NM_000784.4(CYP27A1):c.201CTT[2] (p.Phe70del)
|
rs774193477
|
|
NM_000784.4(CYP27A1):c.49_75del (p.Gly17_Ala25del)
|
rs1553614280
|
|
NM_000784.4(CYP27A1):c.721_723dup (p.Val241dup)
|
rs1553616276
|
|
NM_000784.4(CYP27A1):c.76_99del (p.Arg26_Ala33del)
|
rs1188925314
|
|
NM_001007792.1(NTRK1):c.24C>A (p.Cys8Ter)
|
rs139555558
|
|
NM_001370658.1(BTD):c.*159G>A
|
rs530872564
|
|
NM_001370658.1(BTD):c.-58G>A
|
rs1553646827
|
|
NM_001370658.1(BTD):c.-59T>C
|
rs768258310
|
|
NM_001370658.1(BTD):c.-60A>G
|
rs1553646820
|
|
NM_001370658.1(BTD):c.1177G>A (p.Gly393Ser)
|
rs374141881
|
|
NM_001370658.1(BTD):c.1192T>C (p.Cys398Arg)
|
rs397514408
|
|
NM_001370658.1(BTD):c.1249C>G (p.Leu417Val)
|
rs1553654107
|
|
NM_001370658.1(BTD):c.1274G>A (p.Gly425Glu)
|
rs397514402
|
|
NM_001370658.1(BTD):c.1309G>T (p.Val437Leu)
|
rs146600671
|
|
NM_001370658.1(BTD):c.1328G>A (p.Cys443Tyr)
|
rs397514421
|
|
NM_001370658.1(BTD):c.1421A>G (p.Tyr474Cys)
|
rs750598655
|
|
NM_001370658.1(BTD):c.1503del (p.Arg502fs)
|
rs1163419871
|
|
NM_001370658.1(BTD):c.185C>T (p.Ala62Val)
|
rs397507171
|
|
NM_001370658.1(BTD):c.188T>C (p.Leu63Ser)
|
rs397514347
|
|
NM_001370658.1(BTD):c.239C>T (p.Ala80Val)
|
rs1553652171
|
|
NM_001370658.1(BTD):c.304A>G (p.Arg102Gly)
|
rs397514354
|
|
NM_001370658.1(BTD):c.557TTG[1] (p.Val187del)
|
rs1553653699
|
|
NM_001370658.1(BTD):c.721_723del (p.Tyr241del)
|
rs1553653835
|
|
NM_001370658.1(BTD):c.773T>C (p.Leu258Pro)
|
rs397514389
|
|
NM_001370658.1(BTD):c.795G>C (p.Gln265His)
|
rs1553653855
|
|
NM_001370658.1(BTD):c.806C>T (p.Ala269Val)
|
rs1057520533
|
|
NM_001370658.1(BTD):c.862A>C (p.Met288Leu)
|
rs757604137
|
|
NM_001370658.1(BTD):c.874G>A (p.Gly292Ser)
|
rs397514396
|
|
NM_001370658.1(BTD):c.881A>G (p.His294Arg)
|
rs1553653888
|
|
NM_001370658.1(BTD):c.886C>A (p.Pro296Thr)
|
rs1553653894
|
|
NM_002617.4(PEX10):c.211G>A (p.Glu71Lys)
|
rs1291325133
|
|
NM_002617.4(PEX10):c.233A>G (p.Gln78Arg)
|
rs766966222
|
|
NM_002617.4(PEX10):c.830T>C (p.Leu277Pro)
|
rs724160000
|
|
NM_002617.4(PEX10):c.855_857dup (p.Thr286dup)
|
rs1553231765
|
|
NM_002617.4(PEX10):c.876CTG[1] (p.Cys293del)
|
rs1438047457
|
|
NM_002617.4(PEX10):c.952_954del (p.Lys318del)
|
rs1553231582
|
|
NM_002617.4(PEX10):c.981A>G (p.Ter327Trp)
|
rs1358135448
|
|
NM_015506.3(MMACHC):c.*5C>G
|
rs557994288
|
|
NM_015506.3(MMACHC):c.277-8_277-3dup
|
rs756072947
|
|
NM_015506.3(MMACHC):c.373_381del (p.Gly125_Ala127del)
|
rs1553162848
|
|
NM_015506.3(MMACHC):c.392_394del (p.Gln131del)
|
rs779234540
|
|
NM_015506.3(MMACHC):c.395_397del (p.Arg132del)
|
rs1455190457
|
|
NM_015506.3(MMACHC):c.436_450del (p.Ser146_Ile150del)
|
rs747550590
|
|
NM_015506.3(MMACHC):c.467G>A (p.Gly156Asp)
|
rs1553162910
|
|
NM_015506.3(MMACHC):c.491TGC[2] (p.Leu166del)
|
rs1249948465
|
|
NM_015506.3(MMACHC):c.544T>C (p.Cys182Arg)
|
rs955468279
|
|
NM_015506.3(MMACHC):c.561_572del (p.Asp188_Ala191del)
|
rs1553162937
|
|
NM_015506.3(MMACHC):c.617G>C (p.Arg206Pro)
|
rs371753672
|
|
NM_015506.3(MMACHC):c.701del (p.Leu234fs)
|
rs767339897
|
|
NM_015506.3(MMACHC):c.728del (p.Pro243fs)
|
rs1409915649
|
|
NM_015506.3(MMACHC):c.745dup (p.Asp249fs)
|
rs1553162993
|
|
NM_015506.3(MMACHC):c.771dup (p.Lys258fs)
|
rs763886783
|
|
NM_015506.3(MMACHC):c.799dup (p.Arg267fs)
|
rs1553163005
|
|
NM_015506.3(MMACHC):c.82-11_82-8del
|
rs751236442
|
|
NM_015506.3(MMACHC):c.839del (p.Pro280fs)
|
rs1553163017
|
|
NM_015506.3(MMACHC):c.848G>C (p.Ter283Ser)
|
rs201025783
|
|
NM_015506.3(MMACHC):c.848G>T (p.Ter283Leu)
|
rs201025783
|
|
NM_015506.3(MMACHC):c.848_*2del (p.Ter283PheextTer?)
|
rs1553163021
|
|
NM_015506.3(MMACHC):c.848del (p.Ter283TyrextTer?)
|
rs1553163024
|
|
NM_015506.3(MMACHC):c.849del (p.Ter283CysextTer?)
|
rs1553163027
|
|
NM_033305.3(VPS13A):c.5117_5122del (p.Thr1706_Glu1707del)
|
rs753852395
|
|
NM_133259.4(LRPPRC):c.1253A>C (p.Asn418Thr)
|
rs373908553
|
|
NM_133259.4(LRPPRC):c.1343G>T (p.Gly448Val)
|
rs886056058
|
|
NM_133259.4(LRPPRC):c.1678-2dup
|
rs1553404545
|
|
NM_133259.4(LRPPRC):c.1887_1889del (p.Leu630del)
|
rs1391434905
|
|
NM_133259.4(LRPPRC):c.1935_1937del (p.Leu645_Val646delinsPhe)
|
rs1553403993
|
|
NM_133259.4(LRPPRC):c.239_253del (p.Ser80_Asp84del)
|
rs746311499
|
|
NM_133259.4(LRPPRC):c.2741C>A (p.Pro914Gln)
|
rs1463658772
|
|
NM_133259.4(LRPPRC):c.2966G>A (p.Arg989His)
|
rs774857058
|
|
NM_133259.4(LRPPRC):c.3148+2C>T
|
rs1553396068
|
|
NM_133259.4(LRPPRC):c.3861GTT[2] (p.Leu1289del)
|
rs759297611
|
|
NM_133259.4(LRPPRC):c.3986-11_3986-8dup
|
rs764564351
|
|
NM_133259.4(LRPPRC):c.4077C>G (p.Tyr1359Ter)
|
rs148828179
|
|
NM_133259.4(LRPPRC):c.4178_4182dup (p.Ter1395LeuextTer?)
|
rs1293234237
|
|
NM_133259.4(LRPPRC):c.62_79dup (p.Pro21_Leu26dup)
|
rs760874906
|
|
NM_133259.4(LRPPRC):c.880_882del (p.Glu294del)
|
rs774622259
|
|