NM_000135.4(FANCA):c.2222+73A>G
|
rs1800341
|
0.06356
|
NM_000135.4(FANCA):c.3513+62C>T
|
rs34019730
|
0.05570
|
NM_000203.5(IDUA):c.1727+75G>T
|
rs2305489
|
0.04671
|
NM_001360.3(DHCR7):c.-23T>C
|
rs12573951
|
0.04501
|
NM_001360.3(DHCR7):c.-35C>T
|
rs75974711
|
0.02735
|
NM_024312.5(GNPTAB):c.1931C>T (p.Thr644Ile)
|
rs76889468
|
0.02262
|
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu)
|
rs1800362
|
0.01494
|
NM_024312.5(GNPTAB):c.1482G>A (p.Gln494=)
|
rs11111008
|
0.01428
|
NM_020533.3(MCOLN1):c.1200C>T (p.Gly400=)
|
rs28541364
|
0.01398
|
NM_002485.5(NBN):c.797C>T (p.Pro266Leu)
|
rs769420
|
0.00955
|
NM_000027.4(AGA):c.313C>A (p.Leu105Ile)
|
rs76491548
|
0.00896
|
NM_002485.5(NBN):c.2146A>G (p.Asn716Asp)
|
rs72563785
|
0.00830
|
NM_133259.4(LRPPRC):c.2481A>G (p.Pro827=)
|
rs115993634
|
0.00825
|
NM_133259.4(LRPPRC):c.58C>T (p.Leu20Phe)
|
rs184339274
|
0.00631
|
NM_000143.4(FH):c.53C>T (p.Pro18Leu)
|
rs201887750
|
0.00597
|
NM_000466.3(PEX1):c.3720C>T (p.His1240=)
|
rs34825053
|
0.00582
|
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe)
|
rs1800361
|
0.00511
|
NM_001360.3(DHCR7):c.99-10G>A
|
rs189549129
|
0.00495
|
NM_024120.5(NDUFAF5):c.183G>C (p.Arg61=)
|
rs139219896
|
0.00468
|
NM_000135.4(FANCA):c.903G>T (p.Val301=)
|
rs56062548
|
0.00432
|
NM_024120.5(NDUFAF5):c.449A>G (p.Asn150Ser)
|
rs148341631
|
0.00406
|
NM_000136.3(FANCC):c.1329+175C>T
|
rs112446681
|
0.00401
|
NM_152564.5(VPS13B):c.3243A>G (p.Pro1081=)
|
rs34961653
|
0.00377
|
NM_000202.8(IDS):c.754G>A (p.Asp252Asn)
|
rs146458524
|
0.00372
|
NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg)
|
rs1800368
|
0.00361
|
NM_002076.4(GNS):c.1026G>A (p.Gln342=)
|
rs115586725
|
0.00349
|
NM_000135.4(FANCA):c.2216C>T (p.Pro739Leu)
|
rs45441106
|
0.00341
|
NM_000135.4(FANCA):c.623C>T (p.Ser208Leu)
|
rs144420697
|
0.00325
|
NM_020533.3(MCOLN1):c.782C>T (p.Thr261Met)
|
rs73003348
|
0.00315
|
NM_152564.5(VPS13B):c.11071G>A (p.Ala3691Thr)
|
rs142476821
|
0.00312
|
NM_004553.6(NDUFS6):c.96C>A (p.Val32=)
|
rs140619622
|
0.00311
|
NM_000203.5(IDUA):c.1293C>T (p.Ala431=)
|
rs559676638
|
0.00298
|
NM_001360.3(DHCR7):c.1341C>T (p.Asp447=)
|
rs139721775
|
0.00296
|
NM_000203.5(IDUA):c.346G>A (p.Gly116Arg)
|
rs148946496
|
0.00289
|
NM_000135.4(FANCA):c.3891G>A (p.Lys1297=)
|
rs17227361
|
0.00286
|
NM_020533.3(MCOLN1):c.16G>T (p.Gly6Cys)
|
rs61736595
|
0.00279
|
NM_002485.5(NBN):c.1222A>G (p.Lys408Glu)
|
rs34120922
|
0.00276
|
NM_000466.3(PEX1):c.2271G>C (p.Leu757Phe)
|
rs142838522
|
0.00270
|
NM_000136.3(FANCC):c.-225C>T
|
rs182633348
|
0.00262
|
NM_152564.5(VPS13B):c.9330+9A>G
|
rs184381851
|
0.00261
|
NM_001173990.3(TMEM216):c.211G>T (p.Val71Leu)
|
rs57932685
|
0.00251
|
NM_001360.3(DHCR7):c.399C>T (p.Ala133=)
|
rs147424205
|
0.00248
|
NM_133259.4(LRPPRC):c.3034C>T (p.Pro1012Ser)
|
rs113374262
|
0.00239
|
NM_000284.4(PDHA1):c.292-59C>T
|
rs186854596
|
0.00238
|
NM_000046.5(ARSB):c.317G>A (p.Arg106His)
|
rs150087888
|
0.00230
|
NM_152419.3(HGSNAT):c.63G>A (p.Ala21=)
|
rs549139396
|
0.00230
|
NM_000466.3(PEX1):c.934A>G (p.Ile312Val)
|
rs146312634
|
0.00223
|
NM_000466.3(PEX1):c.330C>G (p.Pro110=)
|
rs71560821
|
0.00218
|
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala)
|
rs144942544
|
0.00217
|
NM_000466.3(PEX1):c.2442C>T (p.Phe814=)
|
rs145430946
|
0.00216
|
NM_152564.5(VPS13B):c.10744A>G (p.Ile3582Val)
|
rs145547375
|
0.00215
|
NM_000135.4(FANCA):c.1830A>G (p.Ala610=)
|
rs1800338
|
0.00201
|
NM_182760.4(SUMF1):c.642G>A (p.Ala214=)
|
rs141017221
|
0.00199
|
NM_024996.7(GFM1):c.2190C>T (p.Asp730=)
|
rs149049400
|
0.00196
|
NM_001360.3(DHCR7):c.321+10C>T
|
rs377108406
|
0.00189
|
NM_000027.4(AGA):c.623-7C>T
|
rs201125635
|
0.00188
|
NM_000071.3(CBS):c.954+8G>A
|
rs76292057
|
0.00188
|
NM_000466.3(PEX1):c.637C>T (p.Leu213Phe)
|
rs141798874
|
0.00185
|
NM_000284.4(PDHA1):c.511-54G>A
|
rs181933291
|
0.00184
|
NM_182760.4(SUMF1):c.664G>C (p.Gly222Arg)
|
rs137917233
|
0.00180
|
NM_152564.5(VPS13B):c.3866C>G (p.Thr1289Ser)
|
rs145569846
|
0.00178
|
NM_152419.3(HGSNAT):c.828A>G (p.Thr276=)
|
rs182393180
|
0.00177
|
NM_004629.2(FANCG):c.1638T>C (p.Gly546=)
|
rs45537335
|
0.00175
|
NM_001953.5(TYMP):c.1290G>A (p.Arg430=)
|
rs570574111
|
0.00173
|
NM_002617.4(PEX10):c.712G>C (p.Gly238Arg)
|
rs61736380
|
0.00172
|
NM_000284.4(PDHA1):c.798A>G (p.Thr266=)
|
rs35752213
|
0.00170
|
NM_000071.3(CBS):c.1059G>A (p.Thr353=)
|
rs61735859
|
0.00162
|
NM_000528.4(MAN2B1):c.2283C>T (p.Pro761=)
|
rs138358081
|
0.00160
|
NM_024996.7(GFM1):c.788A>G (p.Gln263Arg)
|
rs115984741
|
0.00158
|
NM_000466.3(PEX1):c.130-9T>C
|
rs377337949
|
0.00157
|
NM_000203.5(IDUA):c.493+10C>T
|
rs200000194
|
0.00156
|
NM_000027.4(AGA):c.303A>T (p.Ala101=)
|
rs142449515
|
0.00155
|
NM_000466.3(PEX1):c.1011G>A (p.Lys337=)
|
rs142018583
|
0.00155
|
NM_032520.5(GNPTG):c.28T>C (p.Leu10=)
|
rs562191082
|
0.00155
|
NM_000136.3(FANCC):c.840G>A (p.Ser280=)
|
rs34671520
|
0.00154
|
NM_000199.5(SGSH):c.641C>A (p.Ala214Asp)
|
rs74000629
|
0.00143
|
NM_000466.3(PEX1):c.1797A>G (p.Gly599=)
|
rs76986636
|
0.00140
|
NM_014244.5(ADAMTS2):c.139+4G>A
|
rs1023653032
|
0.00140
|
NM_000489.6(ATRX):c.3541G>C (p.Val1181Leu)
|
rs61758732
|
0.00137
|
NM_133259.4(LRPPRC):c.64C>G (p.Leu22Val)
|
rs181626399
|
0.00132
|
NM_000027.4(AGA):c.10A>C (p.Lys4Gln)
|
rs149092606
|
0.00131
|
NM_014244.5(ADAMTS2):c.94C>T (p.Pro32Ser)
|
rs547548078
|
0.00131
|
NM_001360.3(DHCR7):c.208G>A (p.Gly70Ser)
|
rs144512551
|
0.00129
|
NM_032520.5(GNPTG):c.814A>G (p.Arg272Gly)
|
rs8062558
|
0.00128
|
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg)
|
rs140781259
|
0.00126
|
NM_000466.3(PEX1):c.3426C>T (p.Thr1142=)
|
rs143220470
|
0.00124
|
NM_024996.7(GFM1):c.690-5C>G
|
rs201685981
|
0.00124
|
NM_000202.8(IDS):c.825C>T (p.Asp275=)
|
rs148038243
|
0.00120
|
NM_016955.4(SEPSECS):c.780A>G (p.Ser260=)
|
rs61747281
|
0.00120
|
NM_152564.5(VPS13B):c.11158G>A (p.Glu3720Lys)
|
rs150393340
|
0.00118
|
NM_004453.4(ETFDH):c.1590A>G (p.Glu530=)
|
rs143015234
|
0.00114
|
NM_014244.5(ADAMTS2):c.2795G>A (p.Arg932Gln)
|
rs140022033
|
0.00108
|
NM_018006.5(TRMU):c.296T>C (p.Ile99Thr)
|
rs144054758
|
0.00108
|
NM_152564.5(VPS13B):c.3516A>G (p.Thr1172=)
|
rs118158347
|
0.00106
|
NM_000071.3(CBS):c.1643G>A (p.Arg548Gln)
|
rs150828989
|
0.00105
|
NM_000199.5(SGSH):c.390C>T (p.Thr130=)
|
rs111761143
|
0.00105
|
NM_004629.2(FANCG):c.739C>A (p.Gln247Lys)
|
rs145613634
|
0.00103
|
NM_014244.5(ADAMTS2):c.2763C>T (p.Gly921=)
|
rs144797464
|
0.00103
|
NM_000478.6(ALPL):c.1482C>T (p.Leu494=)
|
rs142545037
|
0.00102
|
NM_014244.5(ADAMTS2):c.748G>A (p.Ala250Thr)
|
rs143764421
|
0.00102
|
NM_000046.5(ARSB):c.82C>T (p.Leu28=)
|
rs138587718
|
0.00101
|
NM_000027.4(AGA):c.762C>T (p.Ala254=)
|
rs145465919
|
0.00098
|
NM_000199.5(SGSH):c.1446C>T (p.Ala482=)
|
rs113679696
|
0.00097
|
NM_014244.5(ADAMTS2):c.1122C>T (p.Ser374=)
|
rs145109914
|
0.00097
|
NM_000126.4(ETFA):c.826A>C (p.Ile276Leu)
|
rs141200145
|
0.00096
|
NM_152564.5(VPS13B):c.9903G>A (p.Glu3301=)
|
rs150573530
|
0.00096
|
NM_012243.3(SLC35A3):c.531G>C (p.Met177Ile)
|
rs151009402
|
0.00095
|
NM_020533.3(MCOLN1):c.32-10A>G
|
rs371191277
|
0.00093
|
NM_014244.5(ADAMTS2):c.2865C>T (p.His955=)
|
rs752790963
|
0.00092
|
NM_152564.5(VPS13B):c.10905T>C (p.Pro3635=)
|
rs61754107
|
0.00091
|
NM_000052.7(ATP7A):c.1955G>A (p.Arg652Gln)
|
rs143214563
|
0.00089
|
NM_000135.4(FANCA):c.237C>T (p.Asp79=)
|
rs144151341
|
0.00089
|
NM_000108.5(DLD):c.583-3C>T
|
rs186031819
|
0.00088
|
NM_152564.5(VPS13B):c.7695C>T (p.Cys2565=)
|
rs114038492
|
0.00088
|
NM_005726.6(TSFM):c.69T>A (p.Leu23=)
|
rs147317818
|
0.00086
|
NM_000052.7(ATP7A):c.4006A>G (p.Asn1336Asp)
|
rs146651049
|
0.00082
|
NM_000203.5(IDUA):c.408C>T (p.Ala136=)
|
rs138195998
|
0.00081
|
NM_152419.3(HGSNAT):c.1752C>T (p.Val584=)
|
rs200678234
|
0.00080
|
NM_182760.4(SUMF1):c.722A>G (p.Asn241Ser)
|
rs138045351
|
0.00080
|
NM_000126.4(ETFA):c.533C>G (p.Thr178Arg)
|
rs140169311
|
0.00079
|
NM_024312.5(GNPTAB):c.3516T>C (p.Tyr1172=)
|
rs201592854
|
0.00079
|
NM_000203.5(IDUA):c.234C>T (p.Gly78=)
|
rs138932617
|
0.00078
|
NM_000528.4(MAN2B1):c.1230+9G>C
|
rs367590716
|
0.00078
|
NM_020533.3(MCOLN1):c.1584C>T (p.Gly528=)
|
rs145386883
|
0.00078
|
NM_000263.4(NAGLU):c.1346G>A (p.Ser449Asn)
|
rs114605439
|
0.00077
|
NM_000284.4(PDHA1):c.507G>A (p.Ala169=)
|
rs141862527
|
0.00077
|
NM_152419.3(HGSNAT):c.342C>T (p.Asn114=)
|
rs184883937
|
0.00077
|
NM_152564.5(VPS13B):c.2596G>A (p.Val866Ile)
|
rs150185067
|
0.00076
|
NM_000136.3(FANCC):c.816C>T (p.Ile272=)
|
rs55719336
|
0.00074
|
NM_000528.4(MAN2B1):c.874C>T (p.Leu292=)
|
rs141077530
|
0.00074
|
NM_133259.4(LRPPRC):c.1928A>G (p.His643Arg)
|
rs148575027
|
0.00074
|
NM_000202.8(IDS):c.336C>T (p.His112=)
|
rs138687038
|
0.00073
|
NM_152564.5(VPS13B):c.10240T>C (p.Leu3414=)
|
rs145279584
|
0.00073
|
NM_000202.8(IDS):c.884A>G (p.Lys295Arg)
|
rs113993953
|
0.00072
|
NM_000528.4(MAN2B1):c.2409C>T (p.Ser803=)
|
rs147850230
|
0.00072
|
NM_152564.5(VPS13B):c.11613C>T (p.Phe3871=)
|
rs139436386
|
0.00072
|
NM_020320.5(RARS2):c.456T>C (p.Asn152=)
|
rs141374913
|
0.00070
|
NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser)
|
rs142248228
|
0.00070
|
NM_000466.3(PEX1):c.3216T>C (p.Ser1072=)
|
rs140963147
|
0.00069
|
NM_152564.5(VPS13B):c.3811A>T (p.Thr1271Ser)
|
rs142674934
|
0.00069
|
NM_018006.5(TRMU):c.900G>T (p.Leu300=)
|
rs113846383
|
0.00068
|
NM_152564.5(VPS13B):c.1559A>G (p.His520Arg)
|
rs143205296
|
0.00068
|
NM_152564.5(VPS13B):c.7712C>T (p.Ser2571Phe)
|
rs145208175
|
0.00068
|
NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu)
|
rs145890213
|
0.00068
|
NM_000046.5(ARSB):c.1337-3T>A
|
rs183651028
|
0.00066
|
NM_000199.5(SGSH):c.1428C>T (p.His476=)
|
rs139460639
|
0.00066
|
NM_000466.3(PEX1):c.645C>G (p.Thr215=)
|
rs151041559
|
0.00066
|
NM_003384.3(VRK1):c.1020C>T (p.Asp340=)
|
rs147853760
|
0.00066
|
NM_152564.5(VPS13B):c.7647C>T (p.Phe2549=)
|
rs112634620
|
0.00066
|
NM_000202.8(IDS):c.396G>A (p.Ser132=)
|
rs147108245
|
0.00063
|
NM_000203.5(IDUA):c.11T>C (p.Leu4Pro)
|
rs180984980
|
0.00062
|
NM_002485.5(NBN):c.441C>T (p.Cys147=)
|
rs137857529
|
0.00062
|
NM_000046.5(ARSB):c.570A>G (p.Thr190=)
|
rs148138805
|
0.00061
|
NM_014244.5(ADAMTS2):c.1164G>A (p.Pro388=)
|
rs141348218
|
0.00061
|
NM_032520.5(GNPTG):c.183C>T (p.Pro61=)
|
rs140264422
|
0.00061
|
NM_152564.5(VPS13B):c.11852T>C (p.Ile3951Thr)
|
rs73273219
|
0.00061
|
NM_000199.5(SGSH):c.324G>A (p.Pro108=)
|
rs147938702
|
0.00060
|
NM_032520.5(GNPTG):c.684C>G (p.Thr228=)
|
rs150965148
|
0.00060
|
NM_002617.4(PEX10):c.896C>T (p.Ala299Val)
|
rs78620392
|
0.00058
|
NM_000466.3(PEX1):c.1085C>T (p.Ser362Leu)
|
rs138758170
|
0.00057
|
NM_025215.6(PUS1):c.1047C>T (p.Asn349=)
|
rs145061048
|
0.00057
|
NM_000027.4(AGA):c.482G>A (p.Arg161Gln)
|
rs192195150
|
0.00056
|
NM_000071.3(CBS):c.215A>T (p.Lys72Ile)
|
rs192232907
|
0.00056
|
NM_000136.3(FANCC):c.1329+111C>T
|
rs527823099
|
0.00056
|
NM_000528.4(MAN2B1):c.2625C>T (p.Gly875=)
|
rs368834616
|
0.00056
|
NM_016277.5(RAB23):c.536A>C (p.Glu179Ala)
|
rs150440590
|
0.00056
|
NM_000202.8(IDS):c.781C>G (p.Pro261Ala)
|
rs141720810
|
0.00055
|
NM_000466.3(PEX1):c.2792C>A (p.Ala931Asp)
|
rs144825021
|
0.00055
|
NM_001360.3(DHCR7):c.1368C>T (p.Gly456=)
|
rs144562471
|
0.00054
|
NM_002485.5(NBN):c.896+4T>C
|
rs190843577
|
0.00054
|
NM_014244.5(ADAMTS2):c.2272G>A (p.Ala758Thr)
|
rs146222244
|
0.00054
|
NM_000135.4(FANCA):c.3183C>T (p.Ser1061=)
|
rs1800346
|
0.00053
|
NM_014244.5(ADAMTS2):c.984C>T (p.Ser328=)
|
rs149253571
|
0.00053
|
NM_000478.6(ALPL):c.468C>T (p.Asp156=)
|
rs143621566
|
0.00052
|
NM_133259.4(LRPPRC):c.2118A>G (p.Glu706=)
|
rs118188415
|
0.00052
|
NM_000489.6(ATRX):c.1423C>G (p.His475Asp)
|
rs146863015
|
0.00050
|
NM_032520.5(GNPTG):c.477C>T (p.Tyr159=)
|
rs201168011
|
0.00050
|
NM_000489.6(ATRX):c.2923G>A (p.Asp975Asn)
|
rs200709847
|
0.00049
|
NM_152564.5(VPS13B):c.1981G>A (p.Asp661Asn)
|
rs149334616
|
0.00049
|
NM_000263.4(NAGLU):c.2157G>A (p.Pro719=)
|
rs114687267
|
0.00048
|
NM_018006.5(TRMU):c.772+8G>A
|
rs201372242
|
0.00048
|
NM_152564.5(VPS13B):c.6645A>C (p.Gly2215=)
|
rs147817990
|
0.00048
|
NM_000143.4(FH):c.1299C>T (p.Asn433=)
|
rs201994824
|
0.00047
|
NM_000136.3(FANCC):c.672C>T (p.Asn224=)
|
rs150647141
|
0.00046
|
NM_000136.3(FANCC):c.705C>T (p.Pro235=)
|
rs141828876
|
0.00046
|
NM_000489.6(ATRX):c.4120+4A>C
|
rs200420513
|
0.00046
|
NM_020320.5(RARS2):c.78A>C (p.Thr26=)
|
rs138360045
|
0.00046
|
NM_005726.6(TSFM):c.539G>C (p.Gly180Ala)
|
rs138534976
|
0.00045
|
NM_032520.5(GNPTG):c.702T>C (p.Pro234=)
|
rs532275192
|
0.00044
|
NM_000169.3(GLA):c.376A>G (p.Ser126Gly)
|
rs149391489
|
0.00043
|
NM_020533.3(MCOLN1):c.36C>T (p.Thr12=)
|
rs148187755
|
0.00043
|
NM_001173990.3(TMEM216):c.289T>A (p.Phe97Ile)
|
rs201614099
|
0.00042
|
NM_020533.3(MCOLN1):c.305G>A (p.Arg102Gln)
|
rs139377969
|
0.00042
|
NM_024312.5(GNPTAB):c.2625G>A (p.Val875=)
|
rs141529327
|
0.00042
|
NM_182760.4(SUMF1):c.519A>G (p.Ala173=)
|
rs146050361
|
0.00042
|
NM_000263.4(NAGLU):c.1119G>T (p.Val373=)
|
rs371656965
|
0.00041
|
NM_001953.5(TYMP):c.1189C>T (p.Leu397=)
|
rs777564992
|
0.00041
|
NM_133259.4(LRPPRC):c.4078G>A (p.Ala1360Thr)
|
rs147302249
|
0.00041
|
NM_002617.4(PEX10):c.816G>T (p.Leu272=)
|
rs144440263
|
0.00040
|
NM_000108.5(DLD):c.55C>G (p.Arg19Gly)
|
rs144038427
|
0.00039
|
NM_012243.3(SLC35A3):c.63T>G (p.Val21=)
|
rs141542767
|
0.00038
|
NM_025215.6(PUS1):c.987C>T (p.Pro329=)
|
rs150880557
|
0.00038
|
NM_152419.3(HGSNAT):c.1623G>A (p.Ser541=)
|
rs372909374
|
0.00038
|
NM_000136.3(FANCC):c.457-18A>G
|
rs377206543
|
0.00036
|
NM_000202.8(IDS):c.666C>T (p.Ala222=)
|
rs201588028
|
0.00036
|
NM_024996.7(GFM1):c.1032C>T (p.Asn344=)
|
rs373952002
|
0.00036
|
NM_002617.4(PEX10):c.765G>A (p.Leu255=)
|
rs140133667
|
0.00035
|
NM_000466.3(PEX1):c.939T>C (p.His313=)
|
rs199647157
|
0.00034
|
NM_152564.5(VPS13B):c.10521C>T (p.Tyr3507=)
|
rs767239312
|
0.00034
|
NM_002076.4(GNS):c.4C>T (p.Arg2Trp)
|
rs200441930
|
0.00033
|
NM_152564.5(VPS13B):c.1041A>G (p.Ser347=)
|
rs149176010
|
0.00032
|
NM_002076.4(GNS):c.468C>T (p.Ala156=)
|
rs147780685
|
0.00031
|
NM_152419.3(HGSNAT):c.108G>A (p.Ala36=)
|
rs886062952
|
0.00031
|
NM_152564.5(VPS13B):c.885C>T (p.Gly295=)
|
rs143112539
|
0.00031
|
NM_182760.4(SUMF1):c.891C>T (p.Asn297=)
|
rs143754187
|
0.00031
|
NM_001953.5(TYMP):c.1443G>A (p.Gln481=)
|
rs377497287
|
0.00030
|
NM_014244.5(ADAMTS2):c.2439C>T (p.His813=)
|
rs141661592
|
0.00030
|
NM_152564.5(VPS13B):c.3075G>A (p.Thr1025=)
|
rs141637316
|
0.00030
|
NM_152564.5(VPS13B):c.4452T>C (p.Asn1484=)
|
rs148033080
|
0.00030
|
NM_000108.5(DLD):c.763A>C (p.Met255Leu)
|
rs533405046
|
0.00029
|
NM_000287.4(PEX6):c.25C>T (p.Leu9=)
|
rs183449855
|
0.00029
|
NM_000287.4(PEX6):c.2700C>T (p.Asn900=)
|
rs533766104
|
0.00029
|
NM_024996.7(GFM1):c.1102T>C (p.Leu368=)
|
rs142843314
|
0.00029
|
NM_000136.3(FANCC):c.973G>A (p.Ala325Thr)
|
rs201407189
|
0.00028
|
NM_002437.5(MPV17):c.156G>A (p.Leu52=)
|
rs142493907
|
0.00028
|
NM_004629.2(FANCG):c.1545C>T (p.Ala515=)
|
rs201422773
|
0.00028
|
NM_001360.3(DHCR7):c.139C>T (p.Leu47=)
|
rs140721259
|
0.00027
|
NM_014244.5(ADAMTS2):c.2958+7A>G
|
rs377461767
|
0.00027
|
NM_001360.3(DHCR7):c.586A>G (p.Met196Val)
|
rs200474791
|
0.00026
|
NM_014244.5(ADAMTS2):c.3012C>T (p.Thr1004=)
|
rs571054777
|
0.00026
|
NM_014244.5(ADAMTS2):c.588G>A (p.Lys196=)
|
rs142721501
|
0.00026
|
NM_014244.5(ADAMTS2):c.724G>A (p.Ala242Thr)
|
rs372103269
|
0.00026
|
NM_016277.5(RAB23):c.51T>C (p.Asn17=)
|
rs141279756
|
0.00026
|
NM_020320.5(RARS2):c.1637C>T (p.Pro546Leu)
|
rs142348911
|
0.00026
|
NM_000071.3(CBS):c.33G>A (p.Gly11=)
|
rs567323664
|
0.00025
|
NM_000169.3(GLA):c.-44C>T
|
rs781906252
|
0.00025
|
NM_000528.4(MAN2B1):c.1158G>A (p.Gln386=)
|
rs112829030
|
0.00025
|
NM_020320.5(RARS2):c.207A>G (p.Ala69=)
|
rs568483789
|
0.00025
|
NM_025215.6(PUS1):c.1065G>T (p.Pro355=)
|
rs147555676
|
0.00025
|
NM_152564.5(VPS13B):c.11884C>G (p.Pro3962Ala)
|
rs201483764
|
0.00025
|
NM_152564.5(VPS13B):c.3204A>G (p.Thr1068=)
|
rs140090983
|
0.00025
|
NM_000466.3(PEX1):c.2868T>A (p.Val956=)
|
rs200663477
|
0.00024
|
NM_000489.6(ATRX):c.1825C>G (p.Pro609Ala)
|
rs186742436
|
0.00024
|
NM_002437.5(MPV17):c.249G>A (p.Val83=)
|
rs199952690
|
0.00024
|
NM_020533.3(MCOLN1):c.1158C>T (p.Cys386=)
|
rs139922988
|
0.00024
|
NM_033159.4(HYAL1):c.141C>T (p.His47=)
|
rs147089930
|
0.00024
|
NM_000284.4(PDHA1):c.894A>G (p.Gly298=)
|
rs1329322647
|
0.00023
|
NM_014244.5(ADAMTS2):c.2613C>T (p.Gly871=)
|
rs145016043
|
0.00023
|
NM_000466.3(PEX1):c.2640T>C (p.Tyr880=)
|
rs201719745
|
0.00022
|
NM_002617.4(PEX10):c.611G>A (p.Arg204His)
|
rs199934621
|
0.00022
|
NM_014244.5(ADAMTS2):c.2109C>T (p.Ile703=)
|
rs200210415
|
0.00022
|
NM_020320.5(RARS2):c.1512-6T>C
|
rs185924037
|
0.00022
|
NM_024312.5(GNPTAB):c.70T>G (p.Phe24Val)
|
rs141329633
|
0.00022
|
NM_000108.5(DLD):c.519T>G (p.Val173=)
|
rs148559280
|
0.00021
|
NM_000202.8(IDS):c.849G>C (p.Val283=)
|
rs147374356
|
0.00021
|
NM_000263.4(NAGLU):c.2043G>A (p.Ala681=)
|
rs115401566
|
0.00021
|
NM_000466.3(PEX1):c.1268A>G (p.Asn423Ser)
|
rs200857848
|
0.00021
|
NM_001953.5(TYMP):c.1176C>T (p.Val392=)
|
rs770533125
|
0.00021
|
NM_002437.5(MPV17):c.31C>T (p.Leu11=)
|
rs540291444
|
0.00021
|
NM_014244.5(ADAMTS2):c.2271C>T (p.Asp757=)
|
rs137875904
|
0.00021
|
NM_014244.5(ADAMTS2):c.3552G>A (p.Pro1184=)
|
rs185794582
|
0.00021
|
NM_000203.5(IDUA):c.1332C>T (p.Asp444=)
|
rs545473192
|
0.00020
|
NM_001003722.2(GLE1):c.643-4A>G
|
rs369804957
|
0.00020
|
NM_020533.3(MCOLN1):c.1152C>T (p.Asp384=)
|
rs147455130
|
0.00020
|
NM_000202.8(IDS):c.104A>G (p.Asp35Gly)
|
rs144081417
|
0.00019
|
NM_000263.4(NAGLU):c.1322C>T (p.Thr441Met)
|
rs138695961
|
0.00019
|
NM_000263.4(NAGLU):c.1617C>T (p.Ala539=)
|
rs149875730
|
0.00019
|
NM_005726.6(TSFM):c.726G>A (p.Thr242=)
|
rs140461538
|
0.00019
|
NM_020533.3(MCOLN1):c.60C>T (p.Pro20=)
|
rs202247664
|
0.00019
|
NM_133259.4(LRPPRC):c.1929C>T (p.His643=)
|
rs200017171
|
0.00019
|
NM_152564.5(VPS13B):c.10992C>T (p.Phe3664=)
|
rs575051014
|
0.00019
|
NM_152564.5(VPS13B):c.4225-6G>A
|
rs199755508
|
0.00019
|
NM_014244.5(ADAMTS2):c.2817C>T (p.Ser939=)
|
rs201215425
|
0.00018
|
NM_014244.5(ADAMTS2):c.790G>A (p.Asp264Asn)
|
rs374717566
|
0.00018
|
NM_014244.5(ADAMTS2):c.912C>T (p.Asp304=)
|
rs147197558
|
0.00018
|
NM_020320.5(RARS2):c.6G>A (p.Ala2=)
|
rs371542506
|
0.00018
|
NM_152564.5(VPS13B):c.9369C>T (p.Cys3123=)
|
rs745668942
|
0.00018
|
NM_000478.6(ALPL):c.413G>A (p.Arg138Gln)
|
rs140167865
|
0.00017
|
NM_014244.5(ADAMTS2):c.3342C>T (p.Asn1114=)
|
rs79606317
|
0.00017
|
NM_025215.6(PUS1):c.1076C>T (p.Ala359Val)
|
rs142072030
|
0.00017
|
NM_000135.4(FANCA):c.3348+7G>T
|
rs185527578
|
0.00016
|
NM_000135.4(FANCA):c.688G>A (p.Val230Ile)
|
rs144560850
|
0.00016
|
NM_000202.8(IDS):c.41G>A (p.Gly14Asp)
|
rs373389352
|
0.00016
|
NM_000263.4(NAGLU):c.1662C>T (p.Pro554=)
|
rs368521316
|
0.00016
|
NM_000287.4(PEX6):c.2183C>T (p.Pro728Leu)
|
rs142899308
|
0.00016
|
NM_000528.4(MAN2B1):c.2973G>A (p.Thr991=)
|
rs148945108
|
0.00016
|
NM_001953.5(TYMP):c.1242G>A (p.Pro414=)
|
rs1013301590
|
0.00016
|
NM_002485.5(NBN):c.2202A>G (p.Ala734=)
|
rs200452212
|
0.00016
|
NM_003384.3(VRK1):c.216+8A>G
|
rs369680885
|
0.00016
|
NM_003384.3(VRK1):c.906C>T (p.Tyr302=)
|
rs528346065
|
0.00016
|
NM_014244.5(ADAMTS2):c.3449A>G (p.Asn1150Ser)
|
rs200982805
|
0.00016
|
NM_016277.5(RAB23):c.552G>A (p.Thr184=)
|
rs201731610
|
0.00016
|
NM_033159.4(HYAL1):c.600C>A (p.Gly200=)
|
rs374928005
|
0.00016
|
NM_152564.5(VPS13B):c.11787C>T (p.Asn3929=)
|
rs147710096
|
0.00016
|
NM_152564.5(VPS13B):c.2471C>T (p.Ser824Phe)
|
rs145419141
|
0.00016
|
NM_152564.5(VPS13B):c.3083-9C>T
|
rs376659281
|
0.00016
|
NM_000135.4(FANCA):c.1413C>T (p.Val471=)
|
rs201561753
|
0.00015
|
NM_000202.8(IDS):c.445T>G (p.Ser149Ala)
|
rs146846763
|
0.00015
|
NM_020533.3(MCOLN1):c.572-8G>A
|
rs373636467
|
0.00015
|
NM_020533.3(MCOLN1):c.878-4G>A
|
rs201492918
|
0.00015
|
NM_152564.5(VPS13B):c.7434A>G (p.Ala2478=)
|
rs373550277
|
0.00015
|
NM_000466.3(PEX1):c.159C>T (p.His53=)
|
rs200950057
|
0.00014
|
NM_002617.4(PEX10):c.425G>A (p.Arg142Gln)
|
rs138843050
|
0.00014
|
NM_004629.2(FANCG):c.881G>A (p.Gly294Glu)
|
rs17880082
|
0.00014
|
NM_014244.5(ADAMTS2):c.161C>T (p.Ala54Val)
|
rs368221089
|
0.00014
|
NM_014244.5(ADAMTS2):c.167G>A (p.Arg56His)
|
rs201167346
|
0.00014
|
NM_014244.5(ADAMTS2):c.975+8C>T
|
rs369740542
|
0.00014
|
NM_016955.4(SEPSECS):c.45G>A (p.Pro15=)
|
rs77226826
|
0.00014
|
NM_016955.4(SEPSECS):c.84T>C (p.His28=)
|
rs532571185
|
0.00014
|
NM_020533.3(MCOLN1):c.856C>A (p.His286Asn)
|
rs145191057
|
0.00014
|
NM_152564.5(VPS13B):c.10612G>A (p.Gly3538Arg)
|
rs150767461
|
0.00014
|
NM_152564.5(VPS13B):c.1843+10T>C
|
rs371154826
|
0.00014
|
NM_152564.5(VPS13B):c.3083-8G>A
|
rs201973611
|
0.00014
|
NM_152564.5(VPS13B):c.934A>G (p.Thr312Ala)
|
rs780702951
|
0.00014
|
NM_000071.3(CBS):c.133C>T (p.Arg45Trp)
|
rs201372812
|
0.00013
|
NM_000202.8(IDS):c.103+7C>T
|
rs369735286
|
0.00013
|
NM_000202.8(IDS):c.507+6G>T
|
rs370769925
|
0.00013
|
NM_000489.6(ATRX):c.2650G>A (p.Glu884Lys)
|
rs200343648
|
0.00013
|
NM_002437.5(MPV17):c.61C>G (p.Leu21Val)
|
rs200504529
|
0.00013
|
NM_014244.5(ADAMTS2):c.3060G>A (p.Ala1020=)
|
rs61754844
|
0.00013
|
NM_014244.5(ADAMTS2):c.651G>A (p.Thr217=)
|
rs138580383
|
0.00013
|
NM_020533.3(MCOLN1):c.216G>A (p.Lys72=)
|
rs369176493
|
0.00013
|
NM_133259.4(LRPPRC):c.2392T>C (p.Leu798=)
|
rs373554506
|
0.00013
|
NM_000466.3(PEX1):c.3198T>C (p.Ser1066=)
|
rs150190899
|
0.00012
|
NM_000489.6(ATRX):c.7256A>G (p.Asn2419Ser)
|
rs781853125
|
0.00012
|
NM_001113525.2(ZNF276):c.*1313A>G
|
rs368376237
|
0.00012
|
NM_001360.3(DHCR7):c.1410G>A (p.Leu470=)
|
rs375993195
|
0.00012
|
NM_003384.3(VRK1):c.759A>G (p.Gln253=)
|
rs150534939
|
0.00012
|
NM_024312.5(GNPTAB):c.2028G>A (p.Pro676=)
|
rs192607073
|
0.00012
|
NM_033159.4(HYAL1):c.1041C>T (p.Phe347=)
|
rs377105091
|
0.00012
|
NM_152564.5(VPS13B):c.10980C>T (p.Gly3660=)
|
rs142939294
|
0.00012
|
NM_152564.5(VPS13B):c.2470T>G (p.Ser824Ala)
|
rs149866274
|
0.00012
|
NM_152564.5(VPS13B):c.5884G>T (p.Val1962Leu)
|
rs375399419
|
0.00012
|
NM_000136.3(FANCC):c.1290C>T (p.Tyr430=)
|
rs766105286
|
0.00011
|
NM_000136.3(FANCC):c.1509G>A (p.Thr503=)
|
rs144278080
|
0.00011
|
NM_000169.3(GLA):c.48T>G (p.Leu16=)
|
rs201449986
|
0.00011
|
NM_000203.5(IDUA):c.76G>A (p.Ala26Thr)
|
rs746809894
|
0.00011
|
NM_000478.6(ALPL):c.1014C>T (p.His338=)
|
rs147688908
|
0.00011
|
NM_000489.6(ATRX):c.820T>C (p.Leu274=)
|
rs146012355
|
0.00011
|
NM_002076.4(GNS):c.577C>T (p.Arg193Trp)
|
rs144220755
|
0.00011
|
NM_002485.5(NBN):c.1036G>A (p.Val346Met)
|
rs200297914
|
0.00011
|
NM_002485.5(NBN):c.1914+10G>A
|
rs577706448
|
0.00011
|
NM_002617.4(PEX10):c.268C>T (p.Leu90=)
|
rs775772867
|
0.00011
|
NM_024120.5(NDUFAF5):c.9G>A (p.Arg3=)
|
rs201860210
|
0.00011
|
NM_025215.6(PUS1):c.1266G>A (p.Gly422=)
|
rs201441662
|
0.00011
|
NM_152564.5(VPS13B):c.10258G>A (p.Val3420Met)
|
rs191174682
|
0.00011
|
NM_000046.5(ARSB):c.204C>A (p.Arg68=)
|
rs559187375
|
0.00010
|
NM_000071.3(CBS):c.151A>C (p.Arg51=)
|
rs754759237
|
0.00010
|
NM_000071.3(CBS):c.894G>A (p.Gln298=)
|
rs370514077
|
0.00010
|
NM_000108.5(DLD):c.876-6A>T
|
rs199944006
|
0.00010
|
NM_000135.4(FANCA):c.1614G>A (p.Gly538=)
|
rs747421581
|
0.00010
|
NM_000135.4(FANCA):c.1755C>G (p.Pro585=)
|
rs144704750
|
0.00010
|
NM_000135.4(FANCA):c.3711C>G (p.Val1237=)
|
rs776879032
|
0.00010
|
NM_000135.4(FANCA):c.634A>C (p.Arg212=)
|
rs754839730
|
0.00010
|
NM_000143.4(FH):c.33G>C (p.Ser11=)
|
rs200542051
|
0.00010
|
NM_000199.5(SGSH):c.1062C>T (p.Ala354=)
|
rs150750383
|
0.00010
|
NM_000202.8(IDS):c.881G>A (p.Arg294Gln)
|
rs782445506
|
0.00010
|
NM_000284.4(PDHA1):c.984T>C (p.Asn328=)
|
rs767503319
|
0.00010
|
NM_000287.4(PEX6):c.970G>A (p.Glu324Lys)
|
rs201678533
|
0.00010
|
NM_000489.6(ATRX):c.6871A>G (p.Ile2291Val)
|
rs374244026
|
0.00010
|
NM_001360.3(DHCR7):c.1269C>T (p.Gly423=)
|
rs145374203
|
0.00010
|
NM_001360.3(DHCR7):c.1365C>T (p.Tyr455=)
|
rs557097410
|
0.00010
|
NM_004629.2(FANCG):c.722C>T (p.Pro241Leu)
|
rs201438531
|
0.00010
|
NM_012243.3(SLC35A3):c.483G>A (p.Gln161=)
|
rs370315911
|
0.00010
|
NM_014244.5(ADAMTS2):c.423C>T (p.Gly141=)
|
rs755099137
|
0.00010
|
NM_014244.5(ADAMTS2):c.814C>T (p.Leu272=)
|
rs531768193
|
0.00010
|
NM_024312.5(GNPTAB):c.2559A>C (p.Thr853=)
|
rs754863486
|
0.00010
|
NM_024312.5(GNPTAB):c.2748C>T (p.Tyr916=)
|
rs143931833
|
0.00010
|
NM_025215.6(PUS1):c.111C>T (p.Pro37=)
|
rs543944505
|
0.00010
|
NM_032520.5(GNPTG):c.479C>T (p.Ala160Val)
|
rs374470431
|
0.00010
|
NM_133259.4(LRPPRC):c.888C>T (p.Ser296=)
|
rs762093225
|
0.00010
|
NM_152564.5(VPS13B):c.10845C>T (p.Ala3615=)
|
rs781485612
|
0.00010
|
NM_152564.5(VPS13B):c.3297A>C (p.Thr1099=)
|
rs200982547
|
0.00010
|
NM_000135.4(FANCA):c.3114C>T (p.Leu1038=)
|
rs55758861
|
0.00009
|
NM_000135.4(FANCA):c.3138C>T (p.His1046=)
|
rs150884376
|
0.00009
|
NM_000135.4(FANCA):c.3810G>A (p.Ser1270=)
|
rs138144828
|
0.00009
|
NM_000169.3(GLA):c.945C>T (p.Asp315=)
|
rs151208856
|
0.00009
|
NM_000202.8(IDS):c.1227G>A (p.Thr409=)
|
rs201905166
|
0.00009
|
NM_000202.8(IDS):c.234T>C (p.Phe78=)
|
rs782290556
|
0.00009
|
NM_000203.5(IDUA):c.405C>T (p.Ser135=)
|
rs201326626
|
0.00009
|
NM_000284.4(PDHA1):c.1114G>A (p.Asp372Asn)
|
rs199879809
|
0.00009
|
NM_000489.6(ATRX):c.3065G>A (p.Arg1022Gln)
|
rs781811015
|
0.00009
|
NM_000528.4(MAN2B1):c.789G>A (p.Pro263=)
|
rs149484019
|
0.00009
|
NM_001360.3(DHCR7):c.1362G>A (p.Lys454=)
|
rs147850435
|
0.00009
|
NM_001360.3(DHCR7):c.15G>A (p.Ser5=)
|
rs147038941
|
0.00009
|
NM_014244.5(ADAMTS2):c.969T>C (p.Tyr323=)
|
rs374590440
|
0.00009
|
NM_018006.5(TRMU):c.1188C>G (p.Gly396=)
|
rs142346622
|
0.00009
|
NM_018006.5(TRMU):c.351T>C (p.Asn117=)
|
rs117710834
|
0.00009
|
NM_024996.7(GFM1):c.1368G>A (p.Lys456=)
|
rs774280744
|
0.00009
|
NM_025215.6(PUS1):c.207C>G (p.Leu69=)
|
rs140067992
|
0.00009
|
NM_032520.5(GNPTG):c.713G>A (p.Gly238Glu)
|
rs202080062
|
0.00009
|
NM_152419.3(HGSNAT):c.741G>A (p.Arg247=)
|
rs775663094
|
0.00009
|
NM_152564.5(VPS13B):c.11897A>T (p.Lys3966Ile)
|
rs117934093
|
0.00009
|
NM_152564.5(VPS13B):c.4986C>T (p.Thr1662=)
|
rs148773425
|
0.00009
|
NM_152564.5(VPS13B):c.9039G>A (p.Val3013=)
|
rs542823658
|
0.00009
|
NM_000108.5(DLD):c.1452T>C (p.Cys484=)
|
rs760982359
|
0.00008
|
NM_000135.4(FANCA):c.4035C>T (p.Asp1345=)
|
rs17227389
|
0.00008
|
NM_000199.5(SGSH):c.1104C>T (p.His368=)
|
rs111800668
|
0.00008
|
NM_000202.8(IDS):c.1006+8T>C
|
rs782781942
|
0.00008
|
NM_000202.8(IDS):c.1159G>A (p.Ala387Thr)
|
rs376725292
|
0.00008
|
NM_000287.4(PEX6):c.1821C>T (p.Ala607=)
|
rs201730259
|
0.00008
|
NM_000287.4(PEX6):c.390C>T (p.Thr130=)
|
rs753963225
|
0.00008
|
NM_000466.3(PEX1):c.3762T>C (p.Ala1254=)
|
rs375213175
|
0.00008
|
NM_000489.6(ATRX):c.1868A>G (p.Lys623Arg)
|
rs145678415
|
0.00008
|
NM_000528.4(MAN2B1):c.2640T>C (p.Asn880=)
|
rs763786776
|
0.00008
|
NM_032520.5(GNPTG):c.489C>T (p.Phe163=)
|
rs370857842
|
0.00008
|
NM_000135.4(FANCA):c.2981+4dup
|
rs75004096
|
0.00007
|
NM_000136.3(FANCC):c.531C>T (p.Pro177=)
|
rs150070473
|
0.00007
|
NM_000203.5(IDUA):c.882C>T (p.Pro294=)
|
rs762825338
|
0.00007
|
NM_000287.4(PEX6):c.1680C>T (p.Pro560=)
|
rs372998833
|
0.00007
|
NM_000478.6(ALPL):c.1245T>C (p.Tyr415=)
|
rs747539132
|
0.00007
|
NM_000489.6(ATRX):c.1245C>T (p.Ser415=)
|
rs141815992
|
0.00007
|
NM_000489.6(ATRX):c.2118T>A (p.Ser706Arg)
|
rs782598442
|
0.00007
|
NM_000489.6(ATRX):c.2806G>C (p.Val936Leu)
|
rs149232501
|
0.00007
|
NM_000489.6(ATRX):c.3913A>C (p.Lys1305Gln)
|
rs782708557
|
0.00007
|
NM_000489.6(ATRX):c.4130A>G (p.Glu1377Gly)
|
rs782553301
|
0.00007
|
NM_001953.5(TYMP):c.1185G>A (p.Leu395=)
|
rs748898877
|
0.00007
|
NM_014244.5(ADAMTS2):c.2292C>T (p.Ala764=)
|
rs188566209
|
0.00007
|
NM_020533.3(MCOLN1):c.1650C>T (p.Ser550=)
|
rs749335667
|
0.00007
|
NM_000108.5(DLD):c.508G>A (p.Gly170Ser)
|
rs567286177
|
0.00006
|
NM_000135.4(FANCA):c.1734C>T (p.Tyr578=)
|
rs762647468
|
0.00006
|
NM_000135.4(FANCA):c.1901-10C>T
|
rs766654290
|
0.00006
|
NM_000136.3(FANCC):c.609C>T (p.Leu203=)
|
rs567226063
|
0.00006
|
NM_000143.4(FH):c.12A>G (p.Ala4=)
|
rs201277370
|
0.00006
|
NM_000199.5(SGSH):c.432C>T (p.Ser144=)
|
rs200194908
|
0.00006
|
NM_000199.5(SGSH):c.840C>T (p.Ser280=)
|
rs146904798
|
0.00006
|
NM_000202.8(IDS):c.937C>T (p.Arg313Cys)
|
rs201048643
|
0.00006
|
NM_000203.5(IDUA):c.1773G>A (p.Ala591=)
|
rs148894462
|
0.00006
|
NM_000203.5(IDUA):c.1800G>A (p.Ser600=)
|
rs763047621
|
0.00006
|
NM_000203.5(IDUA):c.765G>C (p.Arg255=)
|
rs965929339
|
0.00006
|
NM_000263.4(NAGLU):c.1272C>T (p.Asn424=)
|
rs200715586
|
0.00006
|
NM_000478.6(ALPL):c.961C>T (p.Arg321Trp)
|
rs200133602
|
0.00006
|
NM_000489.6(ATRX):c.1033G>A (p.Ala345Thr)
|
rs149249195
|
0.00006
|
NM_000489.6(ATRX):c.2313G>A (p.Ala771=)
|
rs373458498
|
0.00006
|
NM_000489.6(ATRX):c.4859G>A (p.Ser1620Asn)
|
rs781875880
|
0.00006
|
NM_001173990.3(TMEM216):c.420T>C (p.Ala140=)
|
rs749351351
|
0.00006
|
NM_001360.3(DHCR7):c.522C>T (p.Phe174=)
|
rs140648594
|
0.00006
|
NM_002076.4(GNS):c.30G>A (p.Arg10=)
|
rs753033310
|
0.00006
|
NM_002617.4(PEX10):c.267G>A (p.Ser89=)
|
rs746952615
|
0.00006
|
NM_002617.4(PEX10):c.555C>T (p.His185=)
|
rs75377471
|
0.00006
|
NM_003384.3(VRK1):c.576+8T>C
|
rs368495945
|
0.00006
|
NM_004553.6(NDUFS6):c.9G>A (p.Ala3=)
|
rs765884582
|
0.00006
|
NM_004629.2(FANCG):c.1048C>T (p.Leu350=)
|
rs772109570
|
0.00006
|
NM_004629.2(FANCG):c.1808C>T (p.Ser603Phe)
|
rs17878854
|
0.00006
|
NM_012243.3(SLC35A3):c.348G>A (p.Thr116=)
|
rs574333514
|
0.00006
|
NM_014244.5(ADAMTS2):c.1414G>A (p.Ala472Thr)
|
rs546681307
|
0.00006
|
NM_014244.5(ADAMTS2):c.1524C>A (p.Thr508=)
|
rs778841966
|
0.00006
|
NM_014244.5(ADAMTS2):c.2709C>T (p.Ala903=)
|
rs763792775
|
0.00006
|
NM_014244.5(ADAMTS2):c.2866G>A (p.Ala956Thr)
|
rs375191740
|
0.00006
|
NM_014244.5(ADAMTS2):c.723C>T (p.Arg241=)
|
rs373732340
|
0.00006
|
NM_014244.5(ADAMTS2):c.747C>T (p.His249=)
|
rs755476647
|
0.00006
|
NM_018006.5(TRMU):c.248+9G>A
|
rs369189631
|
0.00006
|
NM_020320.5(RARS2):c.15T>A (p.Phe5Leu)
|
rs545377358
|
0.00006
|
NM_020533.3(MCOLN1):c.1038G>A (p.Glu346=)
|
rs535704197
|
0.00006
|
NM_020533.3(MCOLN1):c.1680C>T (p.Ala560=)
|
rs747365638
|
0.00006
|
NM_024120.5(NDUFAF5):c.222+8C>G
|
rs113659919
|
0.00006
|
NM_133259.4(LRPPRC):c.4077C>T (p.Tyr1359=)
|
rs148828179
|
0.00006
|
NM_152564.5(VPS13B):c.11216-6T>C
|
rs780721865
|
0.00006
|
NM_152564.5(VPS13B):c.2925T>C (p.His975=)
|
rs535722018
|
0.00006
|
NM_152564.5(VPS13B):c.4890G>A (p.Val1630=)
|
rs144069822
|
0.00006
|
NM_152564.5(VPS13B):c.9645C>T (p.Leu3215=)
|
rs373968888
|
0.00006
|
NM_182760.4(SUMF1):c.192G>C (p.Ser64=)
|
rs770050124
|
0.00006
|
NM_000046.5(ARSB):c.54G>A (p.Leu18=)
|
rs142781021
|
0.00005
|
NM_000071.3(CBS):c.1074G>A (p.Val358=)
|
rs570135008
|
0.00005
|
NM_000135.4(FANCA):c.27C>T (p.Ser9=)
|
rs540584108
|
0.00005
|
NM_000136.3(FANCC):c.1425A>G (p.Thr475=)
|
rs199739450
|
0.00005
|
NM_000136.3(FANCC):c.1494T>C (p.Ala498=)
|
rs76895298
|
0.00005
|
NM_000136.3(FANCC):c.897-8T>C
|
rs878853673
|
0.00005
|
NM_000169.3(GLA):c.891T>C (p.Ser297=)
|
rs782575087
|
0.00005
|
NM_000202.8(IDS):c.1158C>T (p.Ser386=)
|
rs372340411
|
0.00005
|
NM_000202.8(IDS):c.23G>T (p.Arg8Leu)
|
rs782621858
|
0.00005
|
NM_000202.8(IDS):c.717G>A (p.Gln239=)
|
rs782087755
|
0.00005
|
NM_000202.8(IDS):c.894G>A (p.Gln298=)
|
rs781812519
|
0.00005
|
NM_000284.4(PDHA1):c.693G>A (p.Thr231=)
|
rs138237215
|
0.00005
|
NM_000284.4(PDHA1):c.759+10C>G
|
rs375488072
|
0.00005
|
NM_000466.3(PEX1):c.1441G>A (p.Val481Ile)
|
rs139919229
|
0.00005
|
NM_000489.6(ATRX):c.2683G>C (p.Val895Leu)
|
rs782529714
|
0.00005
|
NM_000489.6(ATRX):c.2697G>A (p.Thr899=)
|
rs137974888
|
0.00005
|
NM_000489.6(ATRX):c.2701A>G (p.Ile901Val)
|
rs587778087
|
0.00005
|
NM_000489.6(ATRX):c.3622A>G (p.Ile1208Val)
|
rs782257568
|
0.00005
|
NM_000489.6(ATRX):c.3978A>G (p.Ser1326=)
|
rs369658928
|
0.00005
|
NM_000489.6(ATRX):c.5957-9C>G
|
rs375791318
|
0.00005
|
NM_001953.5(TYMP):c.495T>C (p.Asn165=)
|
rs372889443
|
0.00005
|
NM_001953.5(TYMP):c.516+9C>T
|
rs201884709
|
0.00005
|
NM_004553.6(NDUFS6):c.117C>G (p.Val39=)
|
rs556405335
|
0.00005
|
NM_014244.5(ADAMTS2):c.3573A>G (p.Arg1191=)
|
rs540177122
|
0.00005
|
NM_020533.3(MCOLN1):c.876C>T (p.His292=)
|
rs199588225
|
0.00005
|
NM_020533.3(MCOLN1):c.915C>T (p.Val305=)
|
rs578062566
|
0.00005
|
NM_024120.5(NDUFAF5):c.189C>G (p.Pro63=)
|
rs143178200
|
0.00005
|
NM_025215.6(PUS1):c.564C>T (p.Gly188=)
|
rs369250859
|
0.00005
|
NM_152564.5(VPS13B):c.10755C>T (p.Asp3585=)
|
rs145950999
|
0.00005
|
NM_152564.5(VPS13B):c.1530C>T (p.Arg510=)
|
rs149919865
|
0.00005
|
NM_152564.5(VPS13B):c.6056A>G (p.Asn2019Ser)
|
rs534471615
|
0.00005
|
NM_000027.4(AGA):c.645A>G (p.Thr215=)
|
rs201441868
|
0.00004
|
NM_000135.4(FANCA):c.1008A>G (p.Ala336=)
|
rs1460026241
|
0.00004
|
NM_000135.4(FANCA):c.2088C>T (p.Ser696=)
|
rs150917432
|
0.00004
|
NM_000135.4(FANCA):c.4233G>A (p.Pro1411=)
|
rs368985041
|
0.00004
|
NM_000135.4(FANCA):c.4284C>T (p.Cys1428=)
|
rs367630825
|
0.00004
|
NM_000136.3(FANCC):c.*7C>T
|
rs372511678
|
0.00004
|
NM_000136.3(FANCC):c.1623T>G (p.Pro541=)
|
rs375362894
|
0.00004
|
NM_000199.5(SGSH):c.909A>G (p.Lys303=)
|
rs746617014
|
0.00004
|
NM_000202.8(IDS):c.162T>C (p.Tyr54=)
|
rs141088021
|
0.00004
|
NM_000202.8(IDS):c.301C>T (p.Arg101Cys)
|
rs782738754
|
0.00004
|
NM_000202.8(IDS):c.450G>A (p.Pro150=)
|
rs201892132
|
0.00004
|
NM_000202.8(IDS):c.760G>A (p.Glu254Lys)
|
rs374066256
|
0.00004
|
NM_000203.5(IDUA):c.1031C>G (p.Ala344Gly)
|
rs202191662
|
0.00004
|
NM_000203.5(IDUA):c.30G>A (p.Leu10=)
|
rs549738466
|
0.00004
|
NM_000263.4(NAGLU):c.1899C>T (p.Ala633=)
|
rs767268083
|
0.00004
|
NM_000284.4(PDHA1):c.126C>G (p.Asp42Glu)
|
rs759331650
|
0.00004
|
NM_000478.6(ALPL):c.398C>G (p.Ala133Gly)
|
rs184095519
|
0.00004
|
NM_000489.6(ATRX):c.1047C>G (p.Pro349=)
|
rs200288042
|
0.00004
|
NM_000489.6(ATRX):c.2652G>C (p.Glu884Asp)
|
rs782123222
|
0.00004
|
NM_000489.6(ATRX):c.2880C>T (p.Gly960=)
|
rs782796279
|
0.00004
|
NM_000489.6(ATRX):c.3042T>C (p.Asp1014=)
|
rs140476563
|
0.00004
|
NM_000528.4(MAN2B1):c.966T>C (p.Tyr322=)
|
rs762918325
|
0.00004
|
NM_001360.3(DHCR7):c.159C>T (p.Ile53=)
|
rs752952700
|
0.00004
|
NM_001953.5(TYMP):c.1301-9G>A
|
rs548524392
|
0.00004
|
NM_001953.5(TYMP):c.177C>T (p.Ala59=)
|
rs137930991
|
0.00004
|
NM_002485.5(NBN):c.1089C>T (p.Tyr363=)
|
rs121908974
|
0.00004
|
NM_003384.3(VRK1):c.663C>T (p.His221=)
|
rs376006178
|
0.00004
|
NM_004629.2(FANCG):c.18C>T (p.Thr6=)
|
rs777459203
|
0.00004
|
NM_005726.6(TSFM):c.885C>T (p.Thr295=)
|
rs750718644
|
0.00004
|
NM_012243.3(SLC35A3):c.375A>T (p.Ala125=)
|
rs773812783
|
0.00004
|
NM_014244.5(ADAMTS2):c.1914C>T (p.Asp638=)
|
rs752737484
|
0.00004
|
NM_014244.5(ADAMTS2):c.2403C>T (p.Asp801=)
|
rs374315892
|
0.00004
|
NM_014244.5(ADAMTS2):c.762G>A (p.Arg254=)
|
rs753246905
|
0.00004
|
NM_016277.5(RAB23):c.171T>C (p.Asp57=)
|
rs368714271
|
0.00004
|
NM_016277.5(RAB23):c.255T>C (p.Cys85=)
|
rs374601145
|
0.00004
|
NM_016277.5(RAB23):c.534T>C (p.Ala178=)
|
rs201820320
|
0.00004
|
NM_016277.5(RAB23):c.54A>G (p.Gly18=)
|
rs767442221
|
0.00004
|
NM_018006.5(TRMU):c.1164G>A (p.Pro388=)
|
rs202047181
|
0.00004
|
NM_018006.5(TRMU):c.1218C>T (p.Ser406=)
|
rs754239335
|
0.00004
|
NM_020320.5(RARS2):c.245G>A (p.Ser82Asn)
|
rs749061654
|
0.00004
|
NM_020320.5(RARS2):c.444C>T (p.Thr148=)
|
rs201596004
|
0.00004
|
NM_020533.3(MCOLN1):c.1575+10A>C
|
rs771168805
|
0.00004
|
NM_020533.3(MCOLN1):c.1716G>C (p.Ser572=)
|
rs760559591
|
0.00004
|
NM_020533.3(MCOLN1):c.1719G>A (p.Glu573=)
|
rs201076545
|
0.00004
|
NM_020533.3(MCOLN1):c.423C>T (p.Asp141=)
|
rs747386198
|
0.00004
|
NM_020533.3(MCOLN1):c.531G>A (p.Pro177=)
|
rs201211905
|
0.00004
|
NM_020533.3(MCOLN1):c.63G>A (p.Gly21=)
|
rs754263664
|
0.00004
|
NM_024120.5(NDUFAF5):c.130C>T (p.Leu44=)
|
rs768309175
|
0.00004
|
NM_024120.5(NDUFAF5):c.412G>A (p.Val138Ile)
|
rs572478240
|
0.00004
|
NM_024312.5(GNPTAB):c.534C>G (p.Thr178=)
|
rs777525816
|
0.00004
|
NM_032520.5(GNPTG):c.696A>G (p.Gly232=)
|
rs746160240
|
0.00004
|
NM_133259.4(LRPPRC):c.114C>T (p.Ser38=)
|
rs886056063
|
0.00004
|
NM_133259.4(LRPPRC):c.2904C>T (p.Asn968=)
|
rs1052539943
|
0.00004
|
NM_152419.3(HGSNAT):c.1839C>T (p.Ile613=)
|
rs772611068
|
0.00004
|
NM_152419.3(HGSNAT):c.285G>A (p.Lys95=)
|
rs752466254
|
0.00004
|
NM_152564.5(VPS13B):c.10650C>T (p.His3550=)
|
rs372367817
|
0.00004
|
NM_152564.5(VPS13B):c.10932C>T (p.Asn3644=)
|
rs745337140
|
0.00004
|
NM_152564.5(VPS13B):c.11973C>T (p.Ala3991=)
|
rs533954733
|
0.00004
|
NM_152564.5(VPS13B):c.1825T>C (p.Tyr609His)
|
rs138171489
|
0.00004
|
NM_152564.5(VPS13B):c.2825-4T>A
|
rs201354177
|
0.00004
|
NM_152564.5(VPS13B):c.345C>T (p.Ser115=)
|
rs372489158
|
0.00004
|
NM_000046.5(ARSB):c.1500C>T (p.Ser500=)
|
rs762978908
|
0.00003
|
NM_000071.3(CBS):c.1356G>A (p.Ala452=)
|
rs776322450
|
0.00003
|
NM_000071.3(CBS):c.435G>A (p.Pro145=)
|
rs148782895
|
0.00003
|
NM_000071.3(CBS):c.537C>T (p.Asp179=)
|
rs769712423
|
0.00003
|
NM_000071.3(CBS):c.924C>T (p.Tyr308=)
|
rs149809170
|
0.00003
|
NM_000135.4(FANCA):c.1209G>A (p.Ala403=)
|
rs773318145
|
0.00003
|
NM_000135.4(FANCA):c.12G>C (p.Ser4=)
|
rs1009539881
|
0.00003
|
NM_000135.4(FANCA):c.2958C>T (p.Asn986=)
|
rs368953287
|
0.00003
|
NM_000136.3(FANCC):c.438T>C (p.Tyr146=)
|
rs765990832
|
0.00003
|
NM_000136.3(FANCC):c.906C>G (p.Leu302=)
|
rs766079351
|
0.00003
|
NM_000143.4(FH):c.21C>T (p.Leu7=)
|
rs1263147931
|
0.00003
|
NM_000169.3(GLA):c.416A>G (p.Asn139Ser)
|
rs138886989
|
0.00003
|
NM_000199.5(SGSH):c.117G>A (p.Ala39=)
|
rs201132655
|
0.00003
|
NM_000199.5(SGSH):c.936C>T (p.Tyr312=)
|
rs147716878
|
0.00003
|
NM_000202.8(IDS):c.1100C>T (p.Thr367Met)
|
rs782588855
|
0.00003
|
NM_000202.8(IDS):c.1284C>T (p.His428=)
|
rs782163574
|
0.00003
|
NM_000202.8(IDS):c.1372C>T (p.Arg458Cys)
|
rs782340858
|
0.00003
|
NM_000202.8(IDS):c.684A>G (p.Pro228=)
|
rs782561677
|
0.00003
|
NM_000203.5(IDUA):c.1425C>T (p.Tyr475=)
|
rs370257928
|
0.00003
|
NM_000203.5(IDUA):c.1776C>T (p.Tyr592=)
|
rs372033248
|
0.00003
|
NM_000263.4(NAGLU):c.1479G>A (p.Ala493=)
|
rs113379621
|
0.00003
|
NM_000466.3(PEX1):c.1281T>C (p.His427=)
|
rs979077056
|
0.00003
|
NM_000478.6(ALPL):c.528C>T (p.Ala176=)
|
rs758330265
|
0.00003
|
NM_000489.6(ATRX):c.1350T>C (p.Cys450=)
|
rs782077373
|
0.00003
|
NM_000489.6(ATRX):c.1880G>A (p.Cys627Tyr)
|
rs370584074
|
0.00003
|
NM_000489.6(ATRX):c.3537C>T (p.Val1179=)
|
rs782800250
|
0.00003
|
NM_000489.6(ATRX):c.5073A>G (p.Gln1691=)
|
rs781845474
|
0.00003
|
NM_000528.4(MAN2B1):c.1677G>A (p.Ala559=)
|
rs762375401
|
0.00003
|
NM_000528.4(MAN2B1):c.2298C>T (p.Asn766=)
|
rs746514019
|
0.00003
|
NM_001173990.3(TMEM216):c.405G>A (p.Glu135=)
|
rs748486939
|
0.00003
|
NM_001360.3(DHCR7):c.1389C>T (p.Thr463=)
|
rs200477386
|
0.00003
|
NM_001360.3(DHCR7):c.336G>A (p.Thr112=)
|
rs759750125
|
0.00003
|
NM_001360.3(DHCR7):c.375C>T (p.Tyr125=)
|
rs779401555
|
0.00003
|
NM_002617.4(PEX10):c.280G>A (p.Val94Met)
|
rs142626035
|
0.00003
|
NM_004553.6(NDUFS6):c.102G>A (p.Pro34=)
|
rs763463147
|
0.00003
|
NM_005726.6(TSFM):c.10C>T (p.Leu4=)
|
rs765871977
|
0.00003
|
NM_005726.6(TSFM):c.816C>T (p.Asp272=)
|
rs183575246
|
0.00003
|
NM_014244.5(ADAMTS2):c.600G>A (p.Ala200=)
|
rs761444202
|
0.00003
|
NM_024120.5(NDUFAF5):c.750A>G (p.Gly250=)
|
rs767277509
|
0.00003
|
NM_024312.5(GNPTAB):c.1146C>T (p.Thr382=)
|
rs757765886
|
0.00003
|
NM_025215.6(PUS1):c.75-5C>T
|
rs1363622622
|
0.00003
|
NM_032520.5(GNPTG):c.42C>T (p.Leu14=)
|
rs776361173
|
0.00003
|
NM_032520.5(GNPTG):c.486G>A (p.Thr162=)
|
rs377651982
|
0.00003
|
NM_032520.5(GNPTG):c.765G>A (p.Glu255=)
|
rs762958864
|
0.00003
|
NM_033159.4(HYAL1):c.588C>T (p.Arg196=)
|
rs782601965
|
0.00003
|
NM_133259.4(LRPPRC):c.276T>C (p.Leu92=)
|
rs187590711
|
0.00003
|
NM_152564.5(VPS13B):c.1121C>T (p.Thr374Ile)
|
rs753781360
|
0.00003
|
NM_152564.5(VPS13B):c.1770G>A (p.Ala590=)
|
rs760564848
|
0.00003
|
NM_152564.5(VPS13B):c.2235G>A (p.Thr745=)
|
rs557250154
|
0.00003
|
NM_152564.5(VPS13B):c.450T>C (p.Asn150=)
|
rs746257136
|
0.00003
|
NM_152564.5(VPS13B):c.8751G>A (p.Ser2917=)
|
rs775883776
|
0.00003
|
NM_000027.4(AGA):c.210C>T (p.Asp70=)
|
rs762870187
|
0.00002
|
NM_000027.4(AGA):c.27G>T (p.Val9=)
|
rs764924616
|
0.00002
|
NM_000052.7(ATP7A):c.4245C>T (p.Tyr1415=)
|
rs782346811
|
0.00002
|
NM_000108.5(DLD):c.36C>T (p.Ala12=)
|
rs780127925
|
0.00002
|
NM_000135.4(FANCA):c.1969C>T (p.Leu657=)
|
rs889618840
|
0.00002
|
NM_000135.4(FANCA):c.3429G>A (p.Leu1143=)
|
rs146062039
|
0.00002
|
NM_000135.4(FANCA):c.57G>C (p.Arg19=)
|
rs930955916
|
0.00002
|
NM_000135.4(FANCA):c.837C>T (p.Asp279=)
|
rs752311383
|
0.00002
|
NM_000136.3(FANCC):c.1248C>T (p.Ala416=)
|
rs747051975
|
0.00002
|
NM_000136.3(FANCC):c.654G>A (p.Glu218=)
|
rs754705988
|
0.00002
|
NM_000136.3(FANCC):c.915C>T (p.Thr305=)
|
rs138132690
|
0.00002
|
NM_000136.3(FANCC):c.993G>A (p.Lys331=)
|
rs748582850
|
0.00002
|
NM_000202.8(IDS):c.1642T>C (p.Leu548=)
|
rs1557337560
|
0.00002
|
NM_000202.8(IDS):c.696C>T (p.Phe232=)
|
rs782498858
|
0.00002
|
NM_000202.8(IDS):c.97A>T (p.Thr33Ser)
|
rs782158763
|
0.00002
|
NM_000203.5(IDUA):c.1224C>T (p.Ala408=)
|
rs774488302
|
0.00002
|
NM_000203.5(IDUA):c.42G>C (p.Leu14=)
|
rs1021970063
|
0.00002
|
NM_000263.4(NAGLU):c.1821C>T (p.Asp607=)
|
rs750401625
|
0.00002
|
NM_000284.4(PDHA1):c.759+9A>G
|
rs2643456
|
0.00002
|
NM_000287.4(PEX6):c.106C>T (p.Leu36=)
|
rs758416830
|
0.00002
|
NM_000318.3(PEX2):c.795T>C (p.Tyr265=)
|
rs764785488
|
0.00002
|
NM_000466.3(PEX1):c.3381G>A (p.Arg1127=)
|
rs148972713
|
0.00002
|
NM_000466.3(PEX1):c.897C>T (p.Asn299=)
|
rs559305030
|
0.00002
|
NM_000466.3(PEX1):c.966T>C (p.Phe322=)
|
rs375550740
|
0.00002
|
NM_000478.6(ALPL):c.1470C>T (p.Ile490=)
|
rs771120248
|
0.00002
|
NM_000489.6(ATRX):c.1257G>A (p.Ala419=)
|
rs185550133
|
0.00002
|
NM_000489.6(ATRX):c.3387G>A (p.Leu1129=)
|
rs3761507
|
0.00002
|
NM_000489.6(ATRX):c.3646A>G (p.Ile1216Val)
|
rs782062542
|
0.00002
|
NM_000489.6(ATRX):c.366A>G (p.Pro122=)
|
rs782564172
|
0.00002
|
NM_000489.6(ATRX):c.4329G>A (p.Glu1443=)
|
rs782044671
|
0.00002
|
NM_000528.4(MAN2B1):c.1518G>A (p.Thr506=)
|
rs754672974
|
0.00002
|
NM_000528.4(MAN2B1):c.2485C>T (p.Leu829=)
|
rs1406149211
|
0.00002
|
NM_001360.3(DHCR7):c.1134C>T (p.Ile378=)
|
rs773505265
|
0.00002
|
NM_004553.6(NDUFS6):c.165G>T (p.Arg55=)
|
rs147278612
|
0.00002
|
NM_004629.2(FANCG):c.1335G>A (p.Leu445=)
|
rs780612204
|
0.00002
|
NM_018006.5(TRMU):c.1242T>G (p.Gly414=)
|
rs780243289
|
0.00002
|
NM_020320.5(RARS2):c.1170C>T (p.Val390=)
|
rs780796866
|
0.00002
|
NM_020533.3(MCOLN1):c.1182G>A (p.Thr394=)
|
rs755029960
|
0.00002
|
NM_020533.3(MCOLN1):c.1563C>T (p.Tyr521=)
|
rs140151993
|
0.00002
|
NM_020533.3(MCOLN1):c.333C>T (p.Asp111=)
|
rs150008188
|
0.00002
|
NM_020533.3(MCOLN1):c.338C>T (p.Ala113Val)
|
rs201374540
|
0.00002
|
NM_020533.3(MCOLN1):c.444G>A (p.Ala148=)
|
rs374412302
|
0.00002
|
NM_024312.5(GNPTAB):c.1317C>T (p.Ala439=)
|
rs781704040
|
0.00002
|
NM_024312.5(GNPTAB):c.513A>G (p.Ala171=)
|
rs371813268
|
0.00002
|
NM_025215.6(PUS1):c.216T>C (p.Gly72=)
|
rs766451588
|
0.00002
|
NM_133259.4(LRPPRC):c.1075C>T (p.Leu359=)
|
rs768509632
|
0.00002
|
NM_133259.4(LRPPRC):c.108C>T (p.Ala36=)
|
rs751637061
|
0.00002
|
NM_133259.4(LRPPRC):c.111C>T (p.Ala37=)
|
rs975809121
|
0.00002
|
NM_133259.4(LRPPRC):c.3411T>C (p.Pro1137=)
|
rs765813800
|
0.00002
|
NM_152419.3(HGSNAT):c.1023C>T (p.Asp341=)
|
rs772729729
|
0.00002
|
NM_152419.3(HGSNAT):c.1836C>T (p.Asn612=)
|
rs367648422
|
0.00002
|
NM_152564.5(VPS13B):c.10239G>A (p.Ala3413=)
|
rs749865979
|
0.00002
|
NM_152564.5(VPS13B):c.3162G>A (p.Lys1054=)
|
rs776213275
|
0.00002
|
NM_152564.5(VPS13B):c.7893G>A (p.Ala2631=)
|
rs145460276
|
0.00002
|
NM_152564.5(VPS13B):c.8202G>C (p.Arg2734=)
|
rs759728712
|
0.00002
|
NM_000027.4(AGA):c.177C>T (p.Ser59=)
|
rs757480668
|
0.00001
|
NM_000027.4(AGA):c.999C>T (p.Ser333=)
|
rs1479579564
|
0.00001
|
NM_000046.5(ARSB):c.555C>T (p.Asp185=)
|
rs780886808
|
0.00001
|
NM_000046.5(ARSB):c.66C>T (p.Val22=)
|
rs895965810
|
0.00001
|
NM_000046.5(ARSB):c.84G>A (p.Leu28=)
|
rs754324013
|
0.00001
|
NM_000071.3(CBS):c.687C>T (p.Pro229=)
|
rs769298649
|
0.00001
|
NM_000108.5(DLD):c.1101G>A (p.Glu367=)
|
rs377345899
|
0.00001
|
NM_000108.5(DLD):c.1443T>G (p.Ala481=)
|
rs775957704
|
0.00001
|
NM_000108.5(DLD):c.199-4G>T
|
rs763348101
|
0.00001
|
NM_000108.5(DLD):c.375G>A (p.Glu125=)
|
rs559057715
|
0.00001
|
NM_000135.4(FANCA):c.1632C>A (p.His544Gln)
|
rs553129361
|
0.00001
|
NM_000135.4(FANCA):c.1737C>T (p.Tyr579=)
|
rs529199293
|
0.00001
|
NM_000135.4(FANCA):c.1776+10C>T
|
rs767506133
|
0.00001
|
NM_000135.4(FANCA):c.3087G>A (p.Glu1029=)
|
rs35402142
|
0.00001
|
NM_000135.4(FANCA):c.3483G>A (p.Thr1161=)
|
rs768306527
|
0.00001
|
NM_000135.4(FANCA):c.4329C>T (p.Ala1443=)
|
rs371228419
|
0.00001
|
NM_000135.4(FANCA):c.69C>T (p.Ala23=)
|
rs746429608
|
0.00001
|
NM_000135.4(FANCA):c.90C>G (p.Val30=)
|
rs532713581
|
0.00001
|
NM_000136.3(FANCC):c.1281C>T (p.Ala427=)
|
rs754604606
|
0.00001
|
NM_000136.3(FANCC):c.1305G>C (p.Gly435=)
|
rs765092951
|
0.00001
|
NM_000136.3(FANCC):c.1530C>T (p.Thr510=)
|
rs372199352
|
0.00001
|
NM_000136.3(FANCC):c.1593C>T (p.Tyr531=)
|
rs758842354
|
0.00001
|
NM_000136.3(FANCC):c.216A>G (p.Ala72=)
|
rs1057523069
|
0.00001
|
NM_000136.3(FANCC):c.501T>C (p.Asn167=)
|
rs1057520284
|
0.00001
|
NM_000136.3(FANCC):c.543G>A (p.Ala181=)
|
rs758919360
|
0.00001
|
NM_000136.3(FANCC):c.882T>C (p.Val294=)
|
rs750639831
|
0.00001
|
NM_000136.3(FANCC):c.957G>A (p.Thr319=)
|
rs1060504647
|
0.00001
|
NM_000143.4(FH):c.414C>T (p.Leu138=)
|
rs540968725
|
0.00001
|
NM_000143.4(FH):c.771T>C (p.Tyr257=)
|
rs199909758
|
0.00001
|
NM_000169.3(GLA):c.1153A>G (p.Thr385Ala)
|
rs397515869
|
0.00001
|
NM_000169.3(GLA):c.1207T>C (p.Leu403=)
|
rs869312239
|
0.00001
|
NM_000169.3(GLA):c.727T>C (p.Leu243=)
|
rs782453201
|
0.00001
|
NM_000199.5(SGSH):c.1323G>C (p.Arg441=)
|
rs202209795
|
0.00001
|
NM_000199.5(SGSH):c.1443C>T (p.Cys481=)
|
rs747742566
|
0.00001
|
NM_000199.5(SGSH):c.1452C>T (p.Asp484=)
|
rs763360021
|
0.00001
|
NM_000199.5(SGSH):c.384G>A (p.Pro128=)
|
rs770944273
|
0.00001
|
NM_000199.5(SGSH):c.798A>G (p.Thr266=)
|
rs199562202
|
0.00001
|
NM_000202.8(IDS):c.1143C>T (p.Leu381=)
|
rs781805300
|
0.00001
|
NM_000202.8(IDS):c.237G>A (p.Ala79=)
|
rs782183418
|
0.00001
|
NM_000202.8(IDS):c.933C>T (p.Val311=)
|
rs782608372
|
0.00001
|
NM_000203.5(IDUA):c.1056C>T (p.Phe352=)
|
rs776110061
|
0.00001
|
NM_000203.5(IDUA):c.1536C>T (p.Ala512=)
|
rs1392263774
|
0.00001
|
NM_000203.5(IDUA):c.162C>A (p.Pro54=)
|
rs1378930636
|
0.00001
|
NM_000203.5(IDUA):c.534G>A (p.Glu178=)
|
rs762533612
|
0.00001
|
NM_000203.5(IDUA):c.693C>T (p.Ser231=)
|
rs529773032
|
0.00001
|
NM_000203.5(IDUA):c.757G>T (p.Gly253Cys)
|
rs546933529
|
0.00001
|
NM_000263.4(NAGLU):c.1353C>T (p.Asn451=)
|
rs200029453
|
0.00001
|
NM_000263.4(NAGLU):c.1437C>T (p.Ala479=)
|
rs752918057
|
0.00001
|
NM_000263.4(NAGLU):c.871A>C (p.Ile291Leu)
|
rs199625480
|
0.00001
|
NM_000284.4(PDHA1):c.1062G>T (p.Thr354=)
|
rs147510382
|
0.00001
|
NM_000287.4(PEX6):c.1365A>G (p.Pro455=)
|
rs759402659
|
0.00001
|
NM_000287.4(PEX6):c.795C>G (p.Pro265=)
|
rs545106357
|
0.00001
|
NM_000318.3(PEX2):c.66A>C (p.Ala22=)
|
rs572094828
|
0.00001
|
NM_000466.3(PEX1):c.2853T>C (p.His951=)
|
rs768094112
|
0.00001
|
NM_000466.3(PEX1):c.3166T>C (p.Leu1056=)
|
rs1009877821
|
0.00001
|
NM_000466.3(PEX1):c.3195G>A (p.Ser1065=)
|
rs768417678
|
0.00001
|
NM_000466.3(PEX1):c.3510G>A (p.Leu1170=)
|
rs368014758
|
0.00001
|
NM_000466.3(PEX1):c.3633T>C (p.Ser1211=)
|
rs753334806
|
0.00001
|
NM_000466.3(PEX1):c.894T>C (p.Tyr298=)
|
rs1792856461
|
0.00001
|
NM_000489.6(ATRX):c.1206T>A (p.Ile402=)
|
rs782635950
|
0.00001
|
NM_000489.6(ATRX):c.1492A>G (p.Arg498Gly)
|
rs781942266
|
0.00001
|
NM_000489.6(ATRX):c.2648A>G (p.Gln883Arg)
|
rs587778086
|
0.00001
|
NM_000489.6(ATRX):c.3306G>A (p.Arg1102=)
|
rs782279780
|
0.00001
|
NM_000489.6(ATRX):c.3885G>A (p.Glu1295=)
|
rs781858736
|
0.00001
|
NM_000489.6(ATRX):c.4002A>T (p.Pro1334=)
|
rs782625886
|
0.00001
|
NM_000489.6(ATRX):c.4203G>A (p.Arg1401=)
|
rs1399734659
|
0.00001
|
NM_000489.6(ATRX):c.672G>A (p.Ala224=)
|
rs782223625
|
0.00001
|
NM_000528.4(MAN2B1):c.1953C>T (p.Asn651=)
|
rs547133035
|
0.00001
|
NM_000528.4(MAN2B1):c.2208G>A (p.Pro736=)
|
rs750890285
|
0.00001
|
NM_000528.4(MAN2B1):c.906C>T (p.Ala302=)
|
rs749372996
|
0.00001
|
NM_000925.4(PDHB):c.417T>C (p.Pro139=)
|
rs762644804
|
0.00001
|
NM_001360.3(DHCR7):c.226G>A (p.Val76Ile)
|
rs368473756
|
0.00001
|
NM_001360.3(DHCR7):c.442C>T (p.Leu148=)
|
rs758693177
|
0.00001
|
NM_001360.3(DHCR7):c.45A>G (p.Leu15=)
|
rs150214075
|
0.00001
|
NM_001360.3(DHCR7):c.771G>A (p.Ala257=)
|
rs200232012
|
0.00001
|
NM_001953.5(TYMP):c.198G>A (p.Ala66=)
|
rs1172184794
|
0.00001
|
NM_002437.5(MPV17):c.390C>G (p.Ala130=)
|
rs760281019
|
0.00001
|
NM_002485.5(NBN):c.415A>G (p.Thr139Ala)
|
rs543852763
|
0.00001
|
NM_004629.2(FANCG):c.1365C>G (p.Thr455=)
|
rs767385265
|
0.00001
|
NM_005726.6(TSFM):c.271T>G (p.Trp91Gly)
|
rs542571914
|
0.00001
|
NM_012243.3(SLC35A3):c.378A>G (p.Leu126=)
|
rs761280692
|
0.00001
|
NM_014244.5(ADAMTS2):c.1419C>T (p.His473=)
|
rs758260638
|
0.00001
|
NM_014244.5(ADAMTS2):c.1501A>G (p.Met501Val)
|
rs757394676
|
0.00001
|
NM_014244.5(ADAMTS2):c.1683C>T (p.Asp561=)
|
rs368700721
|
0.00001
|
NM_014244.5(ADAMTS2):c.1848C>T (p.Pro616=)
|
rs569510744
|
0.00001
|
NM_014244.5(ADAMTS2):c.273G>C (p.Pro91=)
|
rs768036305
|
0.00001
|
NM_014244.5(ADAMTS2):c.312G>A (p.Glu104=)
|
rs781264319
|
0.00001
|
NM_014244.5(ADAMTS2):c.3327G>A (p.Pro1109=)
|
rs769116395
|
0.00001
|
NM_014244.5(ADAMTS2):c.661C>G (p.Leu221Val)
|
rs756807336
|
0.00001
|
NM_016277.5(RAB23):c.48G>C (p.Gly16=)
|
rs1454253077
|
0.00001
|
NM_016277.5(RAB23):c.93A>G (p.Lys31=)
|
rs201735614
|
0.00001
|
NM_018006.5(TRMU):c.1125C>T (p.Asp375=)
|
rs779022860
|
0.00001
|
NM_020320.5(RARS2):c.660A>C (p.Ala220=)
|
rs553502877
|
0.00001
|
NM_020320.5(RARS2):c.885A>G (p.Gly295=)
|
rs769636930
|
0.00001
|
NM_020533.3(MCOLN1):c.*8T>C
|
rs751699944
|
0.00001
|
NM_020533.3(MCOLN1):c.1071G>T (p.Leu357=)
|
rs929597481
|
0.00001
|
NM_020533.3(MCOLN1):c.429A>G (p.Ser143=)
|
rs777036069
|
0.00001
|
NM_020533.3(MCOLN1):c.625C>T (p.Leu209Phe)
|
rs576022241
|
0.00001
|
NM_020533.3(MCOLN1):c.840C>T (p.His280=)
|
rs766269225
|
0.00001
|
NM_020533.3(MCOLN1):c.878-10C>T
|
rs572407593
|
0.00001
|
NM_020533.3(MCOLN1):c.948C>T (p.Cys316=)
|
rs759397627
|
0.00001
|
NM_024120.5(NDUFAF5):c.263+8G>A
|
rs200867652
|
0.00001
|
NM_024120.5(NDUFAF5):c.672C>T (p.Asp224=)
|
rs1199767012
|
0.00001
|
NM_024120.5(NDUFAF5):c.678A>C (p.Gly226=)
|
rs143253877
|
0.00001
|
NM_024312.5(GNPTAB):c.1530G>A (p.Ala510=)
|
rs776105842
|
0.00001
|
NM_024312.5(GNPTAB):c.2094A>G (p.Val698=)
|
rs778029826
|
0.00001
|
NM_024312.5(GNPTAB):c.228C>T (p.Asp76=)
|
rs540190619
|
0.00001
|
NM_024996.7(GFM1):c.1830C>T (p.Val610=)
|
rs139680551
|
0.00001
|
NM_024996.7(GFM1):c.2016T>C (p.His672=)
|
rs755853174
|
0.00001
|
NM_025215.6(PUS1):c.966G>A (p.Lys322=)
|
rs746905159
|
0.00001
|
NM_032520.5(GNPTG):c.36C>T (p.Leu12=)
|
rs1567179547
|
0.00001
|
NM_133259.4(LRPPRC):c.1488+8C>G
|
rs772715775
|
0.00001
|
NM_133259.4(LRPPRC):c.1630C>T (p.Leu544=)
|
rs1352013098
|
0.00001
|
NM_133259.4(LRPPRC):c.3174A>G (p.Ala1058=)
|
rs755280196
|
0.00001
|
NM_133259.4(LRPPRC):c.3641A>G (p.Gln1214Arg)
|
rs140482502
|
0.00001
|
NM_133259.4(LRPPRC):c.777A>G (p.Arg259=)
|
rs749089358
|
0.00001
|
NM_152419.3(HGSNAT):c.39G>C (p.Leu13=)
|
rs1335563220
|
0.00001
|
NM_152419.3(HGSNAT):c.60C>T (p.Ala20=)
|
rs1251787808
|
0.00001
|
NM_152419.3(HGSNAT):c.888G>A (p.Ser296=)
|
rs780309535
|
0.00001
|
NM_152419.3(HGSNAT):c.928T>C (p.Leu310=)
|
rs1358940142
|
0.00001
|
NM_152564.5(VPS13B):c.1077T>C (p.Tyr359=)
|
rs541332942
|
0.00001
|
NM_152564.5(VPS13B):c.11655C>T (p.Pro3885=)
|
rs368092348
|
0.00001
|
NM_152564.5(VPS13B):c.11667C>T (p.Ile3889=)
|
rs749637946
|
0.00001
|
NM_152564.5(VPS13B):c.1344G>T (p.Gly448=)
|
rs1395837319
|
0.00001
|
NM_152564.5(VPS13B):c.2244T>C (p.Asp748=)
|
rs146450992
|
0.00001
|
NM_152564.5(VPS13B):c.5220+8T>C
|
rs78899648
|
0.00001
|
NM_152564.5(VPS13B):c.5511A>G (p.Gln1837=)
|
rs767953687
|
0.00001
|
NM_152564.5(VPS13B):c.6879G>A (p.Leu2293=)
|
rs753494412
|
0.00001
|
NM_152564.5(VPS13B):c.7047A>G (p.Leu2349=)
|
rs201133836
|
0.00001
|
NM_152564.5(VPS13B):c.7247+9T>C
|
rs545008110
|
0.00001
|
NM_152564.5(VPS13B):c.8271G>A (p.Thr2757=)
|
rs758044842
|
0.00001
|
NM_152564.5(VPS13B):c.9298C>T (p.Leu3100=)
|
rs780381150
|
0.00001
|
NM_152564.5(VPS13B):c.9448C>T (p.Leu3150=)
|
rs1383239374
|
0.00001
|
NM_152564.5(VPS13B):c.9585G>A (p.Gly3195=)
|
rs1334078728
|
0.00001
|
NM_182760.4(SUMF1):c.129G>C (p.Ala43=)
|
rs1235708576
|
0.00001
|
NM_182760.4(SUMF1):c.239T>A (p.Val80Glu)
|
rs752083773
|
0.00001
|
NM_182760.4(SUMF1):c.447T>C (p.Ala149=)
|
rs750372409
|
0.00001
|
NM_182760.4(SUMF1):c.48G>C (p.Leu16=)
|
rs921740271
|
0.00001
|
NM_182760.4(SUMF1):c.78G>A (p.Ser26=)
|
rs534380202
|
0.00001
|
NM_000027.4(AGA):c.18C>T (p.Asn6=)
|
rs1579047707
|
|
NM_000027.4(AGA):c.19T>C (p.Leu7=)
|
rs2111028551
|
|
NM_000071.3(CBS):c.1089G>A (p.Glu363=)
|
rs1601343953
|
|
NM_000071.3(CBS):c.1290C>T (p.Thr430=)
|
rs746564702
|
|
NM_000071.3(CBS):c.612G>T (p.Val204=)
|
rs539670390
|
|
NM_000071.3(CBS):c.667-10_667-7del
|
rs376011228
|
|
NM_000071.3(CBS):c.747C>T (p.Asp249=)
|
rs1601356424
|
|
NM_000071.3(CBS):c.845_846insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCATTGGGGTGGATC (p.Pro282_Glu283insSerArgTrpGlyPheCysTrpAlaTer)
|
rs1555874223
|
|
NM_000108.5(DLD):c.439-6G>C
|
rs369208046
|
|
NM_000135.4(FANCA):c.1123T>C (p.Leu375=)
|
rs2040093515
|
|
NM_000135.4(FANCA):c.12G>T (p.Ser4=)
|
rs1009539881
|
|
NM_000135.4(FANCA):c.1986C>A (p.Ala662=)
|
rs568935135
|
|
NM_000135.4(FANCA):c.255C>A (p.Ala85=)
|
rs780353222
|
|
NM_000135.4(FANCA):c.3727A>C (p.Arg1243=)
|
rs1051421921
|
|
NM_000135.4(FANCA):c.377C>G (p.Thr126Arg)
|
rs139160837
|
|
NM_000135.4(FANCA):c.402T>C (p.Pro134=)
|
rs745666586
|
|
NM_000135.4(FANCA):c.69C>G (p.Ala23=)
|
rs746429608
|
|
NM_000135.4(FANCA):c.826+10T>C
|
rs536052530
|
|
NM_000136.3(FANCC):c.1023T>C (p.Phe341=)
|
rs758439579
|
|
NM_000136.3(FANCC):c.1071A>G (p.Gln357=)
|
rs1057522128
|
|
NM_000136.3(FANCC):c.1107G>A (p.Lys369=)
|
rs1321399501
|
|
NM_000136.3(FANCC):c.1200C>T (p.Phe400=)
|
rs767215159
|
|
NM_000136.3(FANCC):c.1254C>T (p.Pro418=)
|
rs1057521431
|
|
NM_000136.3(FANCC):c.1264C>T (p.Leu422=)
|
rs756716463
|
|
NM_000136.3(FANCC):c.1467C>T (p.His489=)
|
rs1554828385
|
|
NM_000136.3(FANCC):c.1485G>A (p.Leu495=)
|
rs56082100
|
|
NM_000136.3(FANCC):c.1524C>T (p.Val508=)
|
rs765766432
|
|
NM_000136.3(FANCC):c.1534-5del
|
rs748342368
|
|
NM_000136.3(FANCC):c.222T>C (p.Ala74=)
|
rs1554857821
|
|
NM_000136.3(FANCC):c.336C>T (p.Ser112=)
|
rs1057521125
|
|
NM_000136.3(FANCC):c.345+4AG[2]
|
rs755657969
|
|
NM_000136.3(FANCC):c.738C>T (p.His246=)
|
rs1414558793
|
|
NM_000143.4(FH):c.105G>C (p.Ser35=)
|
rs181655698
|
|
NM_000143.4(FH):c.1237-14_1237-9dup
|
rs779985493
|
|
NM_000199.5(SGSH):c.1159G>A (p.Val387Met)
|
rs62620232
|
|
NM_000199.5(SGSH):c.1338C>T (p.His446=)
|
rs762208419
|
|
NM_000199.5(SGSH):c.1449C>T (p.Pro483=)
|
rs779836312
|
|
NM_000199.5(SGSH):c.282C>T (p.Asp94=)
|
rs748857638
|
|
NM_000199.5(SGSH):c.540C>A (p.Pro180=)
|
rs749721134
|
|
NM_000202.8(IDS):c.957C>A (p.Asp319Glu)
|
rs782488487
|
|
NM_000203.5(IDUA):c.1449C>T (p.Pro483=)
|
rs761637332
|
|
NM_000203.5(IDUA):c.1479C>G (p.Pro493=)
|
rs370394527
|
|
NM_000203.5(IDUA):c.1651-10C>T
|
rs548878643
|
|
NM_000203.5(IDUA):c.1856G>A (p.Arg619Gln)
|
rs372137794
|
|
NM_000203.5(IDUA):c.590-8C>G
|
rs6848974
|
|
NM_000203.5(IDUA):c.675C>T (p.Phe225=)
|
rs767436466
|
|
NM_000203.5(IDUA):c.793-9C>T
|
rs375798875
|
|
NM_000263.4(NAGLU):c.1623G>C (p.Arg541=)
|
rs146438251
|
|
NM_000263.4(NAGLU):c.933C>G (p.Ala311=)
|
rs115888189
|
|
NM_000284.4(PDHA1):c.1172_*3del (p.Ser390_Ter391insTer)
|
rs1555935577
|
|
NM_000284.4(PDHA1):c.1173_*5del (p.Ter391Xaa)
|
rs762505127
|
|
NM_000287.4(PEX6):c.2907G>C (p.Arg969=)
|
rs145243129
|
|
NM_000287.4(PEX6):c.336G>T (p.Leu112=)
|
rs1194598013
|
|
NM_000287.4(PEX6):c.855C>A (p.Pro285=)
|
rs757897959
|
|
NM_000287.4(PEX6):c.948A>T (p.Pro316=)
|
rs781704566
|
|
NM_000318.3(PEX2):c.717C>T (p.Thr239=)
|
rs2132043284
|
|
NM_000318.3(PEX2):c.825C>T (p.Asp275=)
|
rs367649632
|
|
NM_000466.3(PEX1):c.1056G>A (p.Val352=)
|
rs1348024001
|
|
NM_000466.3(PEX1):c.1152A>G (p.Leu384=)
|
rs776933950
|
|
NM_000466.3(PEX1):c.1230G>A (p.Gly410=)
|
rs539382251
|
|
NM_000466.3(PEX1):c.1338G>A (p.Lys446=)
|
rs543863652
|
|
NM_000466.3(PEX1):c.1380A>C (p.Glu460Asp)
|
rs565049190
|
|
NM_000466.3(PEX1):c.1434T>G (p.Leu478=)
|
rs757668497
|
|
NM_000466.3(PEX1):c.2565T>G (p.Thr855=)
|
rs1472376635
|
|
NM_000466.3(PEX1):c.468A>G (p.Gln156=)
|
rs149729088
|
|
NM_000466.3(PEX1):c.711T>A (p.Val237=)
|
rs758443247
|
|
NM_000478.6(ALPL):c.1290T>C (p.Asn430=)
|
rs200330153
|
|
NM_000478.6(ALPL):c.1557C>A (p.Pro519=)
|
rs376020180
|
|
NM_000478.6(ALPL):c.369C>A (p.Ala123=)
|
rs201342272
|
|
NM_000478.6(ALPL):c.831C>T (p.Thr277=)
|
rs1458491740
|
|
NM_000489.6(ATRX):c.1827A>G (p.Pro609=)
|
rs1603222884
|
|
NM_000489.6(ATRX):c.1938A>G (p.Leu646=)
|
rs2148611303
|
|
NM_000489.6(ATRX):c.3417T>C (p.Asn1139=)
|
rs1603216127
|
|
NM_000489.6(ATRX):c.4318-10A>C
|
rs781946372
|
|
NM_000489.6(ATRX):c.4347AGA[1] (p.Glu1464del)
|
rs587780288
|
|
NM_000489.6(ATRX):c.5566+5A>C
|
rs782212670
|
|
NM_000489.6(ATRX):c.5787-24GTTT[4]
|
rs782072699
|
|
NM_000489.6(ATRX):c.6699+10T>C
|
rs1602531185
|
|
NM_000489.6(ATRX):c.711T>C (p.Asn237=)
|
rs782710787
|
|
NM_000528.4(MAN2B1):c.1167C>T (p.Thr389=)
|
rs762375074
|
|
NM_000528.4(MAN2B1):c.1383C>T (p.Tyr461=)
|
rs775200333
|
|
NM_001360.3(DHCR7):c.282G>A (p.Arg94=)
|
rs541593878
|
|
NM_001360.3(DHCR7):c.465C>T (p.His155=)
|
rs1949346657
|
|
NM_001360.3(DHCR7):c.70G>T (p.Ala24Ser)
|
rs146867923
|
|
NM_001360.3(DHCR7):c.906C>T (p.Phe302=)
|
rs80338858
|
|
NM_001953.5(TYMP):c.910G>A (p.Asp304Asn)
|
rs570438867
|
|
NM_002076.4(GNS):c.132C>G (p.Thr44=)
|
rs1592514574
|
|
NM_002485.5(NBN):c.105T>A (p.Ile35=)
|
rs78870221
|
|
NM_002485.5(NBN):c.1182A>G (p.Arg394=)
|
rs1586059412
|
|
NM_002485.5(NBN):c.2071-8T>C
|
rs1178683426
|
|
NM_002617.4(PEX10):c.819C>T (p.Cys273=)
|
rs1570098961
|
|
NM_003384.3(VRK1):c.690C>T (p.Ile230=)
|
rs747694940
|
|
NM_004453.4(ETFDH):c.63T>C (p.Ile21=)
|
rs566605780
|
|
NM_004553.6(NDUFS6):c.67C>T (p.Leu23=)
|
rs1014264454
|
|
NM_004629.2(FANCG):c.1157C>G (p.Pro386Arg)
|
rs141147618
|
|
NM_004629.2(FANCG):c.957G>A (p.Pro319=)
|
rs145092954
|
|
NM_005726.6(TSFM):c.408G>A (p.Leu136=)
|
rs144109380
|
|
NM_014244.5(ADAMTS2):c.119CCG[5] (p.Ala43dup)
|
rs1174228917
|
|
NM_014244.5(ADAMTS2):c.1746G>A (p.Lys582=)
|
rs1763133750
|
|
NM_014244.5(ADAMTS2):c.2015G>T (p.Arg672Leu)
|
rs200806292
|
|
NM_014244.5(ADAMTS2):c.2545C>T (p.Leu849=)
|
rs1581140577
|
|
NM_014244.5(ADAMTS2):c.3551C>T (p.Pro1184Leu)
|
rs150989902
|
|
NM_014244.5(ADAMTS2):c.378C>T (p.Pro126=)
|
rs1235773868
|
|
NM_014244.5(ADAMTS2):c.42C>G (p.Pro14=)
|
rs1581302053
|
|
NM_014244.5(ADAMTS2):c.607G>A (p.Ala203Thr)
|
rs543859669
|
|
NM_014244.5(ADAMTS2):c.71CGC[4] (p.Pro26dup)
|
rs763392299
|
|
NM_014244.5(ADAMTS2):c.75G>T (p.Pro25=)
|
rs965841596
|
|
NM_014244.5(ADAMTS2):c.80_100dup (p.Leu27_Pro33dup)
|
rs1064794627
|
|
NM_016277.5(RAB23):c.551C>T (p.Thr184Met)
|
rs140295281
|
|
NM_018006.5(TRMU):c.1211C>A (p.Thr404Asn)
|
rs760435544
|
|
NM_018006.5(TRMU):c.1211C>T (p.Thr404Ile)
|
rs760435544
|
|
NM_018006.5(TRMU):c.248+9_248+18del
|
rs763718617
|
|
NM_020320.5(RARS2):c.1587-10C>G
|
rs531179961
|
|
NM_020320.5(RARS2):c.888G>A (p.Thr296=)
|
rs145189950
|
|
NM_020320.5(RARS2):c.888G>C (p.Thr296=)
|
rs145189950
|
|
NM_020533.3(MCOLN1):c.1032G>A (p.Leu344=)
|
rs371345093
|
|
NM_020533.3(MCOLN1):c.1032G>C (p.Leu344=)
|
rs371345093
|
|
NM_020533.3(MCOLN1):c.1053C>G (p.Val351=)
|
rs566285864
|
|
NM_020533.3(MCOLN1):c.1053C>T (p.Val351=)
|
rs566285864
|
|
NM_020533.3(MCOLN1):c.1077C>T (p.Val359=)
|
rs200417975
|
|
NM_020533.3(MCOLN1):c.1335C>T (p.Ile445=)
|
rs764352100
|
|
NM_020533.3(MCOLN1):c.264G>A (p.Gln88=)
|
rs554380139
|
|
NM_020533.3(MCOLN1):c.648C>T (p.Ser216=)
|
rs2146023575
|
|
NM_024312.5(GNPTAB):c.1155A>C (p.Ser385=)
|
rs754258764
|
|
NM_024312.5(GNPTAB):c.1863C>T (p.Asn621=)
|
rs758930596
|
|
NM_024312.5(GNPTAB):c.1947C>T (p.Tyr649=)
|
rs746619207
|
|
NM_024312.5(GNPTAB):c.2148G>A (p.Leu716=)
|
rs374600127
|
|
NM_024312.5(GNPTAB):c.2904A>C (p.Glu968Asp)
|
rs555336070
|
|
NM_024996.7(GFM1):c.1308C>T (p.Asn436=)
|
rs1187874654
|
|
NM_024996.7(GFM1):c.192A>G (p.Glu64=)
|
rs1576720639
|
|
NM_024996.7(GFM1):c.498C>T (p.Asn166=)
|
rs762364300
|
|
NM_024996.7(GFM1):c.56C>T (p.Ala19Val)
|
rs567086019
|
|
NM_025215.6(PUS1):c.1065G>A (p.Pro355=)
|
rs147555676
|
|
NM_032520.5(GNPTG):c.862A>C (p.Arg288=)
|
rs200471078
|
|
NM_133259.4(LRPPRC):c.1248C>T (p.Leu416=)
|
rs1263285909
|
|
NM_133259.4(LRPPRC):c.135C>T (p.Ala45=)
|
rs886056061
|
|
NM_133259.4(LRPPRC):c.1506T>C (p.Ser502=)
|
rs1163183496
|
|
NM_133259.4(LRPPRC):c.1841T>C (p.Met614Thr)
|
rs374400665
|
|
NM_133259.4(LRPPRC):c.2761G>T (p.Ala921Ser)
|
rs775312269
|
|
NM_133259.4(LRPPRC):c.346+9A>C
|
rs754438818
|
|
NM_133259.4(LRPPRC):c.4074T>C (p.Arg1358=)
|
rs746573924
|
|
NM_133259.4(LRPPRC):c.42C>T (p.Ala14=)
|
rs1572599036
|
|
NM_133259.4(LRPPRC):c.582A>G (p.Gln194=)
|
rs148494289
|
|
NM_152564.5(VPS13B):c.11244G>A (p.Pro3748=)
|
rs375229257
|
|
NM_152564.5(VPS13B):c.2433A>T (p.Ile811=)
|
rs540795071
|
|
NM_152564.5(VPS13B):c.6564T>C (p.Asn2188=)
|
rs746691768
|
|
NM_152564.5(VPS13B):c.7051-7A>C
|
rs772934540
|
|
NM_152564.5(VPS13B):c.8703A>G (p.Gly2901=)
|
rs1588744960
|
|
NM_182760.4(SUMF1):c.258C>G (p.Leu86=)
|
rs776950607
|
|
NM_182760.4(SUMF1):c.28T>C (p.Cys10Arg)
|
rs776028375
|
|
NM_182760.4(SUMF1):c.825C>T (p.Phe275=)
|
rs780668525
|
|
NM_182760.4(SUMF1):c.954+7A>G
|
rs560003466
|
|