NM_001164508.2(NEB):c.13353C>T (p.Ala4451=)
|
rs774726264
|
0.33333
|
NM_000498.3(CYP11B2):c.1157T>C (p.Val386Ala)
|
rs61757294
|
0.08654
|
NM_001164508.2(NEB):c.13534G>A (p.Ala4512Thr)
|
rs886038435
|
0.07143
|
NM_000057.4(BLM):c.2193+61G>C
|
rs28385029
|
0.07054
|
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_000531.6(OTC):c.809A>G (p.Gln270Arg)
|
rs1800328
|
0.02868
|
NM_201525.4(ADGRG1):c.1460T>C (p.Met487Thr)
|
rs17379472
|
0.02860
|
NM_004006.3(DMD):c.6463C>T (p.Arg2155Trp)
|
rs1800273
|
0.02767
|
NM_001360.3(DHCR7):c.-35C>T
|
rs75974711
|
0.02735
|
NM_001283009.2(RTEL1):c.2785G>A (p.Ala929Thr)
|
rs61736615
|
0.02652
|
NM_000155.4(GALT):c.652C>T (p.Leu218=)
|
rs2070075
|
0.02537
|
NM_054012.4(ASS1):c.175-1129A>G
|
rs59227343
|
0.02410
|
NM_024312.5(GNPTAB):c.1931C>T (p.Thr644Ile)
|
rs76889468
|
0.02262
|
NM_004006.3(DMD):c.8762A>G (p.His2921Arg)
|
rs1800279
|
0.02191
|
NM_206933.4(USH2A):c.13297G>T (p.Val4433Leu)
|
rs111033381
|
0.01895
|
NM_000492.4(CFTR):c.1584G>A (p.Glu528=)
|
rs1800095
|
0.01670
|
NM_004006.3(DMD):c.5724T>C (p.Asp1908=)
|
rs143159113
|
0.01630
|
NM_003982.4(SLC7A7):c.272C>T (p.Ala91Val)
|
rs11568438
|
0.01617
|
NM_003640.5(ELP1):c.2855A>T (p.Lys952Ile)
|
rs2230798
|
0.01592
|
NM_003659.4(AGPS):c.1173C>G (p.Gly391=)
|
rs115580413
|
0.01496
|
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu)
|
rs1800362
|
0.01494
|
NM_003640.5(ELP1):c.3876T>G (p.Thr1292=)
|
rs61749202
|
0.01463
|
NM_000094.4(COL7A1):c.89C>T (p.Thr30Ile)
|
rs74453879
|
0.01453
|
NM_024312.5(GNPTAB):c.1482G>A (p.Gln494=)
|
rs11111008
|
0.01428
|
NM_014844.5(TECPR2):c.2941C>A (p.Gln981Lys)
|
rs62000389
|
0.01415
|
NM_020533.3(MCOLN1):c.1200C>T (p.Gly400=)
|
rs28541364
|
0.01398
|
NM_000352.6(ABCC8):c.1158C>T (p.Asn386=)
|
rs60824529
|
0.01375
|
NM_000092.5(COL4A4):c.4656G>A (p.Met1552Ile)
|
rs77104306
|
0.01346
|
NM_015506.3(MMACHC):c.*269A>G
|
rs35067820
|
0.01308
|
NM_004006.3(DMD):c.93+5655C>T
|
rs145403882
|
0.01278
|
NM_001142800.2(EYS):c.9030A>G (p.Ala3010=)
|
rs61754905
|
0.01277
|
NM_004006.3(DMD):c.9085-15497G>C
|
rs73466395
|
0.01272
|
NM_004006.3(DMD):c.93+5493T>A
|
rs143247129
|
0.01256
|
NM_000092.5(COL4A4):c.2796G>A (p.Lys932=)
|
rs34591179
|
0.01236
|
NM_004006.3(DMD):c.3021G>A (p.Ser1007=)
|
rs1800268
|
0.01212
|
NM_000260.4(MYO7A):c.6519C>T (p.Asn2173=)
|
rs111033230
|
0.01207
|
NM_001142800.2(EYS):c.6452A>G (p.Asn2151Ser)
|
rs141603172
|
0.01185
|
NM_022124.6(CDH23):c.1423G>A (p.Val475Met)
|
rs62622410
|
0.01173
|
NM_000486.6(AQP2):c.345C>T (p.Asp115=)
|
rs60629501
|
0.01171
|
NM_000128.4(F11):c.-54G>A
|
rs4253814
|
0.01170
|
NM_004006.3(DMD):c.9225-669G>A
|
rs139193266
|
0.01156
|
NM_001283009.2(RTEL1):c.1192-9del
|
rs200008996
|
0.01145
|
NM_001033855.3(DCLRE1C):c.959C>G (p.Ser320Cys)
|
rs41298896
|
0.01123
|
NM_001164508.2(NEB):c.3147+5G>A
|
rs74859201
|
0.01118
|
NM_006623.4(PHGDH):c.792+6T>G
|
rs146953046
|
0.01118
|
NM_004006.3(DMD):c.1554T>A (p.Asp518Glu)
|
rs61733587
|
0.01098
|
NM_004006.3(DMD):c.1225A>T (p.Thr409Ser)
|
rs34155804
|
0.01079
|
NM_054012.4(ASS1):c.-5-1883C>T
|
rs12004384
|
0.01076
|
NM_001164508.2(NEB):c.5567G>A (p.Arg1856Gln)
|
rs141930814
|
0.01071
|
NM_000536.4(RAG2):c.1158C>A (p.Phe386Leu)
|
rs34629171
|
0.01070
|
NM_001142800.2(EYS):c.5044G>T (p.Asp1682Tyr)
|
rs75831552
|
0.01062
|
NM_012203.2(GRHPR):c.963G>A (p.Pro321=)
|
rs76299266
|
0.01042
|
NM_004006.3(DMD):c.31+36949C>T
|
rs182597890
|
0.01020
|
NM_023036.6(DNAI2):c.590A>T (p.Asp197Val)
|
rs35636875
|
0.01015
|
NM_001369.3(DNAH5):c.3987A>G (p.Lys1329=)
|
rs146191243
|
0.01011
|
NM_022124.6(CDH23):c.3574G>A (p.Val1192Ile)
|
rs80028391
|
0.00999
|
NM_004006.3(DMD):c.6322C>T (p.Arg2108Cys)
|
rs16990169
|
0.00981
|
NM_000527.5(LDLR):c.90C>T (p.Asn30=)
|
rs72658855
|
0.00965
|
NM_000390.4(CHM):c.1802A>G (p.Asn601Ser)
|
rs145877269
|
0.00962
|
NM_002485.5(NBN):c.797C>T (p.Pro266Leu)
|
rs769420
|
0.00955
|
NM_000352.6(ABCC8):c.1572G>A (p.Thr524=)
|
rs61748766
|
0.00948
|
NM_001283009.2(RTEL1):c.936G>A (p.Leu312=)
|
rs41302954
|
0.00947
|
NM_000642.3(AGL):c.3619G>A (p.Ala1207Thr)
|
rs11807956
|
0.00940
|
NM_002225.5(IVD):c.88C>T (p.His30Tyr)
|
rs73383128
|
0.00938
|
NM_033380.3(COL4A5):c.4500A>G (p.Gly1500=)
|
rs145378707
|
0.00920
|
NM_000070.3(CAPN3):c.2332G>A (p.Asp778Asn)
|
rs115311625
|
0.00908
|
NM_000492.4(CFTR):c.2898G>A (p.Thr966=)
|
rs1800109
|
0.00907
|
NM_001142800.2(EYS):c.4093A>G (p.Lys1365Glu)
|
rs16895519
|
0.00905
|
NM_023036.6(DNAI2):c.234G>A (p.Glu78=)
|
rs35985071
|
0.00904
|
NM_000027.4(AGA):c.313C>A (p.Leu105Ile)
|
rs76491548
|
0.00896
|
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys)
|
rs41273726
|
0.00885
|
NM_054012.4(ASS1):c.364-6T>C
|
rs116103138
|
0.00881
|
NM_002778.4(PSAP):c.78C>T (p.Thr26=)
|
rs74145688
|
0.00850
|
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_201548.5(CERKL):c.677+566G>T
|
rs10185262
|
0.00821
|
NM_015627.3(LDLRAP1):c.653C>T (p.Thr218Ile)
|
rs114583297
|
0.00817
|
NM_003640.5(ELP1):c.2631C>T (p.Ala877=)
|
rs138023874
|
0.00791
|
NM_004006.3(DMD):c.*38G>A
|
rs16989352
|
0.00785
|
NM_138694.4(PKHD1):c.7921A>G (p.Thr2641Ala)
|
rs7766366
|
0.00773
|
NM_000051.4(ATM):c.544G>C (p.Val182Leu)
|
rs3218707
|
0.00757
|
NM_001384474.1(LOXHD1):c.4526G>A (p.Gly1509Glu)
|
rs187587197
|
0.00751
|
NM_004006.3(DMD):c.3603+8A>G
|
rs193249735
|
0.00743
|
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn)
|
rs142863601
|
0.00738
|
NM_054012.4(ASS1):c.675C>T (p.Ile225=)
|
rs58233547
|
0.00735
|
NM_001164508.2(NEB):c.20078C>T (p.Thr6693Ile)
|
rs35707762
|
0.00734
|
NM_022124.6(CDH23):c.3364T>G (p.Leu1122Val)
|
rs77821631
|
0.00732
|
NM_000531.6(OTC):c.867+1136C>A
|
rs7050531
|
0.00723
|
NM_001164508.2(NEB):c.2832C>T (p.Ser944=)
|
rs114076205
|
0.00714
|
NM_004006.3(DMD):c.2391T>G (p.Asn797Lys)
|
rs72468681
|
0.00714
|
NM_014363.6(SACS):c.4117G>C (p.Ala1373Pro)
|
rs61326562
|
0.00706
|
NM_001164508.2(NEB):c.3191A>G (p.Tyr1064Cys)
|
rs187343008
|
0.00681
|
NM_000153.4(GALC):c.1788C>T (p.Phe596=)
|
rs115018138
|
0.00658
|
NM_000153.4(GALC):c.195+10A>G
|
rs191767015
|
0.00653
|
NM_133259.4(LRPPRC):c.58C>T (p.Leu20Phe)
|
rs184339274
|
0.00631
|
NM_000157.4(GBA1):c.1223C>T (p.Thr408Met)
|
rs75548401
|
0.00627
|
NM_004006.3(DMD):c.7476T>C (p.Val2492=)
|
rs142153424
|
0.00626
|
NM_004006.3(DMD):c.3787-18T>C
|
rs72468656
|
0.00621
|
NM_000092.5(COL4A4):c.3871C>G (p.Pro1291Ala)
|
rs34728338
|
0.00619
|
NM_206933.4(USH2A):c.9262G>A (p.Glu3088Lys)
|
rs56056328
|
0.00606
|
NM_000158.4(GBE1):c.176T>C (p.Ile59Thr)
|
rs28763904
|
0.00604
|
NM_001130987.2(DYSF):c.3337C>T (p.Arg1113Cys)
|
rs141536854
|
0.00601
|
NM_006019.4(TCIRG1):c.479G>A (p.Gly160Glu)
|
rs186758849
|
0.00601
|
NM_004646.4(NPHS1):c.563A>T (p.Asn188Ile)
|
rs145125791
|
0.00598
|
NM_000143.4(FH):c.53C>T (p.Pro18Leu)
|
rs201887750
|
0.00597
|
NM_001130987.2(DYSF):c.3341G>A (p.Arg1114His)
|
rs59915619
|
0.00594
|
NM_004006.3(DMD):c.2143A>T (p.Thr715Ser)
|
rs16998350
|
0.00594
|
NM_001142800.2(EYS):c.7796A>G (p.His2599Arg)
|
rs74636274
|
0.00587
|
NM_000466.3(PEX1):c.3720C>T (p.His1240=)
|
rs34825053
|
0.00582
|
NM_001283009.2(RTEL1):c.2898G>C (p.Glu966Asp)
|
rs115464632
|
0.00579
|
NM_000492.4(CFTR):c.3285A>T (p.Thr1095=)
|
rs1800118
|
0.00570
|
NM_001384140.1(PCDH15):c.-5A>G
|
rs142016527
|
0.00570
|
NM_000158.4(GBE1):c.118C>A (p.Pro40Thr)
|
rs35196441
|
0.00569
|
NM_000128.4(F11):c.731A>G (p.Gln244Arg)
|
rs5969
|
0.00564
|
NM_153717.3(EVC):c.284A>G (p.Asp95Gly)
|
rs41269547
|
0.00561
|
NM_000531.6(OTC):c.540+296G>C
|
rs746940552
|
0.00548
|
NM_000486.6(AQP2):c.39G>A (p.Val13=)
|
rs61733029
|
0.00540
|
NM_001365088.1(SLC12A6):c.1412G>C (p.Ser471Thr)
|
rs140916001
|
0.00537
|
NM_014363.6(SACS):c.7384C>T (p.Pro2462Ser)
|
rs78239814
|
0.00525
|
NM_003640.5(ELP1):c.1721C>T (p.Ala574Val)
|
rs35455790
|
0.00524
|
NM_153676.4(USH1C):c.101A>G (p.His34Arg)
|
rs75157409
|
0.00524
|
NM_014363.6(SACS):c.1593C>T (p.Ile531=)
|
rs113756713
|
0.00513
|
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe)
|
rs1800361
|
0.00511
|
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile)
|
rs146722795
|
0.00506
|
NM_004006.3(DMD):c.9225-301T>C
|
rs73617063
|
0.00503
|
NM_004006.3(DMD):c.9225-645T>C
|
rs73617065
|
0.00503
|
NM_002454.3(MTRR):c.288C>T (p.Leu96=)
|
rs35587995
|
0.00500
|
NM_000057.4(BLM):c.615G>A (p.Lys205=)
|
rs28903082
|
0.00496
|
NM_000070.3(CAPN3):c.318C>T (p.Cys106=)
|
rs117609395
|
0.00495
|
NM_001360.3(DHCR7):c.99-10G>A
|
rs189549129
|
0.00495
|
NM_014625.4(NPHS2):c.87C>G (p.Ala29=)
|
rs12123397
|
0.00495
|
NM_000080.4(CHRNE):c.*6A>G
|
rs55806270
|
0.00487
|
NM_004006.3(DMD):c.10789C>T (p.Leu3597=)
|
rs1800281
|
0.00486
|
NM_000153.4(GALC):c.1403C>G (p.Thr468Ser)
|
rs34134328
|
0.00483
|
NM_024120.5(NDUFAF5):c.183G>C (p.Arg61=)
|
rs139219896
|
0.00468
|
NM_001378454.1(ALMS1):c.2764C>T (p.Leu922=)
|
rs143885319
|
0.00467
|
NM_001378454.1(ALMS1):c.8742A>G (p.Val2914=)
|
rs142611294
|
0.00466
|
NM_000152.5(GAA):c.2580C>T (p.Asp860=)
|
rs61736894
|
0.00459
|
NM_000243.3(MEFV):c.1760-4G>A
|
rs79662406
|
0.00459
|
NM_006096.4(NDRG1):c.879G>A (p.Pro293=)
|
rs2233340
|
0.00458
|
NM_023036.6(DNAI2):c.747C>T (p.Gly249=)
|
rs148488355
|
0.00458
|
NM_138694.4(PKHD1):c.11738G>A (p.Arg3913His)
|
rs2661487
|
0.00453
|
NM_000182.5(HADHA):c.1981C>T (p.Leu661=)
|
rs142348718
|
0.00450
|
NM_000492.4(CFTR):c.3718-2530A>G
|
rs213990
|
0.00445
|
NM_001142800.2(EYS):c.8429C>T (p.Thr2810Ile)
|
rs144513453
|
0.00443
|
NM_005629.4(SLC6A8):c.1768-3C>T
|
rs150207268
|
0.00435
|
NM_000135.4(FANCA):c.903G>T (p.Val301=)
|
rs56062548
|
0.00432
|
NM_001164508.2(NEB):c.19455G>A (p.Lys6485=)
|
rs182847302
|
0.00430
|
NM_014625.4(NPHS2):c.59C>T (p.Pro20Leu)
|
rs74315344
|
0.00425
|
NM_000057.4(BLM):c.3128C>A (p.Ala1043Asp)
|
rs2229035
|
0.00421
|
NM_001378454.1(ALMS1):c.4605A>G (p.Gln1535=)
|
rs144720929
|
0.00412
|
NM_000094.4(COL7A1):c.4613G>A (p.Arg1538His)
|
rs2229824
|
0.00408
|
NM_000182.5(HADHA):c.2146+16T>C
|
rs145930159
|
0.00408
|
NM_206933.4(USH2A):c.12817T>C (p.Tyr4273His)
|
rs79654794
|
0.00408
|
NM_024120.5(NDUFAF5):c.449A>G (p.Asn150Ser)
|
rs148341631
|
0.00406
|
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln)
|
rs188164241
|
0.00405
|
NM_201525.4(ADGRG1):c.844G>C (p.Gly282Arg)
|
rs146704802
|
0.00404
|
NM_000136.3(FANCC):c.1329+175C>T
|
rs112446681
|
0.00401
|
NM_003742.4(ABCB11):c.2134T>C (p.Leu712=)
|
rs191649793
|
0.00401
|
NM_004646.4(NPHS1):c.1170+8G>A
|
rs140808195
|
0.00400
|
NM_033305.3(VPS13A):c.5184T>C (p.Ser1728=)
|
rs73467954
|
0.00400
|
NM_000022.4(ADA):c.425G>A (p.Arg142Gln)
|
rs61732239
|
0.00399
|
NM_001142800.2(EYS):c.7006G>A (p.Val2336Ile)
|
rs74848648
|
0.00397
|
NM_000049.4(ASPA):c.245T>C (p.Met82Thr)
|
rs80099330
|
0.00394
|
NM_001201543.2(FAM161A):c.1133T>G (p.Leu378Arg)
|
rs187695569
|
0.00389
|
NM_001386140.1(MTTP):c.2043G>A (p.Glu681=)
|
rs145444300
|
0.00389
|
NM_000158.4(GBE1):c.839G>A (p.Gly280Asp)
|
rs28763902
|
0.00388
|
NM_001369.3(DNAH5):c.5281C>G (p.Arg1761Gly)
|
rs148891849
|
0.00388
|
NM_000359.3(TGM1):c.361C>T (p.Arg121Cys)
|
rs80145541
|
0.00384
|
NM_206933.4(USH2A):c.15433G>A (p.Val5145Ile)
|
rs111033269
|
0.00379
|
NM_206933.4(USH2A):c.7130A>G (p.Asn2377Ser)
|
rs111033394
|
0.00378
|
NM_152564.5(VPS13B):c.3243A>G (p.Pro1081=)
|
rs34961653
|
0.00377
|
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro)
|
rs113268723
|
0.00376
|
NM_000492.4(CFTR):c.-812T>G
|
rs181008242
|
0.00375
|
NM_000543.5(SMPD1):c.901G>A (p.Val301Ile)
|
rs2723669
|
0.00374
|
NM_000202.8(IDS):c.754G>A (p.Asp252Asn)
|
rs146458524
|
0.00372
|
NM_000543.5(SMPD1):c.99G>A (p.Met33Ile)
|
rs142178073
|
0.00371
|
NM_138694.4(PKHD1):c.5125C>T (p.Leu1709Phe)
|
rs45517932
|
0.00371
|
NM_000243.3(MEFV):c.42G>A (p.Glu14=)
|
rs113314808
|
0.00369
|
NM_000153.4(GALC):c.1006G>A (p.Val336Met)
|
rs185073540
|
0.00368
|
NM_022124.6(CDH23):c.6596T>A (p.Ile2199Asn)
|
rs111033494
|
0.00368
|
NM_001384474.1(LOXHD1):c.6034G>A (p.Glu2012Lys)
|
rs79045813
|
0.00367
|
NM_014297.5(ETHE1):c.227-9C>G
|
rs199921503
|
0.00367
|
NM_000091.5(COL4A3):c.4707A>T (p.Pro1569=)
|
rs113401495
|
0.00364
|
NM_000053.4(ATP7B):c.3369G>A (p.Pro1123=)
|
rs61733679
|
0.00362
|
NM_000152.5(GAA):c.447G>A (p.Thr149=)
|
rs2289536
|
0.00362
|
NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg)
|
rs1800368
|
0.00361
|
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys)
|
rs41303287
|
0.00356
|
NM_004004.6(GJB2):c.-6T>A
|
rs148136545
|
0.00355
|
NM_001384474.1(LOXHD1):c.1708G>A (p.Asp570Asn)
|
rs140437150
|
0.00354
|
NM_000098.3(CPT2):c.1763C>G (p.Ser588Cys)
|
rs1871748
|
0.00353
|
NM_001142800.2(EYS):c.6725+10G>A
|
rs140506043
|
0.00353
|
NM_019098.5(CNGB3):c.1179-6T>C
|
rs114127590
|
0.00352
|
NM_000543.5(SMPD1):c.1561C>T (p.Leu521=)
|
rs147258619
|
0.00349
|
NM_002076.4(GNS):c.1026G>A (p.Gln342=)
|
rs115586725
|
0.00349
|
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala)
|
rs138427376
|
0.00342
|
NM_000135.4(FANCA):c.2216C>T (p.Pro739Leu)
|
rs45441106
|
0.00341
|
NM_000243.3(MEFV):c.1467G>A (p.Gln489=)
|
rs61732424
|
0.00341
|
NM_000243.3(MEFV):c.333G>A (p.Gly111=)
|
rs61732425
|
0.00339
|
NM_206933.4(USH2A):c.14315C>T (p.Ser4772Phe)
|
rs149222801
|
0.00339
|
NM_000527.4(LDLR):c.-217C>T
|
rs17249141
|
0.00338
|
NM_001164508.2(NEB):c.5555T>G (p.Met1852Arg)
|
rs144180493
|
0.00336
|
NM_001369.3(DNAH5):c.8757G>C (p.Glu2919Asp)
|
rs115776799
|
0.00334
|
NM_001164508.2(NEB):c.3636C>T (p.Asp1212=)
|
rs144376972
|
0.00333
|
NM_000486.6(AQP2):c.204C>T (p.Asn68=)
|
rs57915981
|
0.00332
|
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys)
|
rs111540787
|
0.00332
|
NM_000053.4(ATP7B):c.2175G>A (p.Arg725=)
|
rs61733684
|
0.00329
|
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser)
|
rs55680026
|
0.00329
|
NM_001283009.2(RTEL1):c.1761G>A (p.Pro587=)
|
rs116900568
|
0.00329
|
NM_000481.4(AMT):c.-1G>A
|
rs143841175
|
0.00328
|
NM_004006.3(DMD):c.5182C>T (p.Arg1728Cys)
|
rs34102501
|
0.00327
|
NM_206933.4(USH2A):c.4543A>G (p.Thr1515Ala)
|
rs141671082
|
0.00327
|
NM_014363.6(SACS):c.13717A>C (p.Asn4573His)
|
rs34382952
|
0.00326
|
NM_000135.4(FANCA):c.623C>T (p.Ser208Leu)
|
rs144420697
|
0.00325
|
NM_000153.4(GALC):c.96G>T (p.Leu32=)
|
rs113719127
|
0.00324
|
NM_000094.4(COL7A1):c.8472C>T (p.Ala2824=)
|
rs116591500
|
0.00322
|
NM_001127671.2(LIFR):c.789A>G (p.Val263=)
|
rs141925289
|
0.00321
|
NM_023036.6(DNAI2):c.468-4G>T
|
rs146462823
|
0.00321
|
NM_000152.5(GAA):c.1438-32G>A
|
rs199897967
|
0.00320
|
NM_001164508.2(NEB):c.5968G>A (p.Glu1990Lys)
|
rs146310692
|
0.00320
|
NM_000527.5(LDLR):c.67+18C>A
|
rs17242759
|
0.00319
|
NR_003051.4(RMRP):n.129G>C
|
rs74810894
|
0.00319
|
NM_001384474.1(LOXHD1):c.5802C>A (p.Asn1934Lys)
|
rs61733519
|
0.00316
|
NM_020533.3(MCOLN1):c.782C>T (p.Thr261Met)
|
rs73003348
|
0.00315
|
NM_001164508.2(NEB):c.4649A>G (p.Lys1550Arg)
|
rs114089598
|
0.00312
|
NM_001399.5(EDA):c.206G>T (p.Arg69Leu)
|
rs132630309
|
0.00312
|
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_001201543.2(FAM161A):c.1153C>G (p.Gln385Glu)
|
rs139266382
|
0.00309
|
NM_153717.3(EVC):c.1127C>T (p.Ala376Val)
|
rs142535134
|
0.00309
|
NM_004006.3(DMD):c.802T>C (p.Leu268=)
|
rs1800264
|
0.00307
|
NM_000035.4(ALDOB):c.156T>G (p.Thr52=)
|
rs149671008
|
0.00302
|
NM_005957.5(MTHFR):c.1264G>A (p.Gly422Arg)
|
rs45571736
|
0.00300
|
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_000260.4(MYO7A):c.4698G>A (p.Thr1566=)
|
rs200207753
|
0.00295
|
NM_001384474.1(LOXHD1):c.1570C>T (p.Arg524Cys)
|
rs192376005
|
0.00295
|
NM_000133.4(F9):c.967G>A (p.Glu323Lys)
|
rs150351950
|
0.00294
|
NM_000487.6(ARSA):c.466-7G>C
|
rs6151414
|
0.00294
|
NM_000053.4(ATP7B):c.2355+13T>G
|
rs139211339
|
0.00293
|
NM_206933.4(USH2A):c.14454G>A (p.Pro4818=)
|
rs137902779
|
0.00293
|
NM_000152.5(GAA):c.917C>T (p.Ser306Leu)
|
rs138097673
|
0.00292
|
NM_000271.5(NPC1):c.3477+4A>G
|
rs114073738
|
0.00292
|
NM_001164508.2(NEB):c.7514C>A (p.Ala2505Glu)
|
rs35292878
|
0.00292
|
NM_000191.3(HMGCL):c.393A>G (p.Ser131=)
|
rs56218308
|
0.00290
|
NM_000203.5(IDUA):c.346G>A (p.Gly116Arg)
|
rs148946496
|
0.00289
|
NM_002529.4(NTRK1):c.1236C>T (p.Asp412=)
|
rs147438950
|
0.00289
|
NM_003227.4(TFR2):c.1473G>A (p.Glu491=)
|
rs139178017
|
0.00289
|
NM_000051.4(ATM):c.3993+5G>T
|
rs3092842
|
0.00287
|
NM_000080.4(CHRNE):c.1220-5G>A
|
rs188564977
|
0.00287
|
NM_201548.5(CERKL):c.66C>G (p.Pro22=)
|
rs199762900
|
0.00287
|
NM_000135.4(FANCA):c.3891G>A (p.Lys1297=)
|
rs17227361
|
0.00286
|
NM_138694.4(PKHD1):c.4920A>G (p.Val1640=)
|
rs142465959
|
0.00286
|
NM_022124.6(CDH23):c.4045C>T (p.Arg1349Cys)
|
rs41281318
|
0.00285
|
NM_000094.4(COL7A1):c.5125-6C>T
|
rs372345936
|
0.00284
|
NM_001142800.2(EYS):c.2613C>T (p.Asp871=)
|
rs192059823
|
0.00284
|
NM_000271.5(NPC1):c.1532C>T (p.Thr511Met)
|
rs13381670
|
0.00283
|
NM_022124.6(CDH23):c.9204G>A (p.Ala3068=)
|
rs192266658
|
0.00281
|
NM_004006.3(DMD):c.4529A>G (p.Lys1510Arg)
|
rs72468638
|
0.00279
|
NM_020533.3(MCOLN1):c.16G>T (p.Gly6Cys)
|
rs61736595
|
0.00279
|
NM_000057.4(BLM):c.1928G>A (p.Arg643His)
|
rs12720097
|
0.00278
|
NM_002485.5(NBN):c.1222A>G (p.Lys408Glu)
|
rs34120922
|
0.00276
|
NM_022042.4(SLC26A1):c.*877C>T
|
rs200911718
|
0.00276
|
NM_003982.4(SLC7A7):c.720A>C (p.Ser240=)
|
rs151261004
|
0.00274
|
NM_205861.3(DHDDS):c.140G>A (p.Arg47Gln)
|
rs149949619
|
0.00274
|
NM_000053.4(ATP7B):c.1707+29dup
|
rs113829533
|
0.00273
|
NM_001142800.2(EYS):c.5629C>T (p.Arg1877Trp)
|
rs139822086
|
0.00273
|
NM_182894.3(VSX2):c.522C>T (p.Asp174=)
|
rs78509400
|
0.00273
|
NM_000137.4(FAH):c.554-20T>G
|
rs199501793
|
0.00272
|
NM_001283009.2(RTEL1):c.3693G>A (p.Thr1231=)
|
rs181080831
|
0.00272
|
NM_004006.3(DMD):c.9085-15539G>A
|
rs143848649
|
0.00271
|
NM_000466.3(PEX1):c.2271G>C (p.Leu757Phe)
|
rs142838522
|
0.00270
|
NM_001142800.2(EYS):c.4264A>T (p.Thr1422Ser)
|
rs200318120
|
0.00269
|
NM_002778.4(PSAP):c.16C>T (p.Leu6Phe)
|
rs148279196
|
0.00269
|
NM_000136.3(FANCC):c.-225C>T
|
rs182633348
|
0.00262
|
NM_001876.4(CPT1A):c.302C>T (p.Thr101Met)
|
rs61731903
|
0.00262
|
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn)
|
rs140806722
|
0.00262
|
NM_152564.5(VPS13B):c.9330+9A>G
|
rs184381851
|
0.00261
|
NM_004937.3(CTNS):c.462-7C>A
|
rs189632527
|
0.00259
|
NM_022124.6(CDH23):c.3293A>G (p.Asn1098Ser)
|
rs41281310
|
0.00258
|
NM_000391.4(TPP1):c.840G>C (p.Leu280=)
|
rs140349036
|
0.00257
|
NM_001126108.2(SLC12A3):c.307C>T (p.Leu103=)
|
rs35005216
|
0.00257
|
NM_001130987.2(DYSF):c.5743G>A (p.Asp1915Asn)
|
rs115013641
|
0.00257
|
NM_001164508.2(NEB):c.10744G>A (p.Val3582Ile)
|
rs139798654
|
0.00257
|
NM_000018.4(ACADVL):c.1839G>A (p.Arg613=)
|
rs79125791
|
0.00254
|
NM_000153.4(GALC):c.-463C>T
|
rs181956126
|
0.00254
|
NM_201253.3(CRB1):c.600A>G (p.Thr200=)
|
rs77713666
|
0.00254
|
NM_001283009.2(RTEL1):c.3823-5C>G
|
rs141522376
|
0.00252
|
NM_015474.4(SAMHD1):c.77C>T (p.Pro26Leu)
|
rs147240777
|
0.00252
|
NM_001173990.3(TMEM216):c.211G>T (p.Val71Leu)
|
rs57932685
|
0.00251
|
NM_002529.4(NTRK1):c.612G>A (p.Ser204=)
|
rs114320051
|
0.00251
|
NM_000101.4(CYBA):c.226G>A (p.Val76Met)
|
rs149344911
|
0.00250
|
NM_001201543.2(FAM161A):c.1551G>A (p.Thr517=)
|
rs143622468
|
0.00248
|
NM_001360.3(DHCR7):c.399C>T (p.Ala133=)
|
rs147424205
|
0.00248
|
NM_000112.4(SLC26A2):c.987T>C (p.Leu329=)
|
rs116302615
|
0.00246
|
NM_001378454.1(ALMS1):c.9822C>G (p.Thr3274=)
|
rs201446579
|
0.00245
|
NM_014844.5(TECPR2):c.1470C>T (p.Ser490=)
|
rs149584733
|
0.00245
|
NM_206933.4(USH2A):c.13404A>G (p.Arg4468=)
|
rs146994147
|
0.00245
|
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln)
|
rs148584617
|
0.00244
|
NM_001164508.2(NEB):c.4980C>T (p.Pro1660=)
|
rs142074817
|
0.00242
|
NM_005957.5(MTHFR):c.1408G>C (p.Glu470Gln)
|
rs139645527
|
0.00242
|
NM_000543.5(SMPD1):c.441G>A (p.Val147=)
|
rs148944108
|
0.00241
|
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys)
|
rs182369459
|
0.00241
|
NM_000057.4(BLM):c.2075-14T>C
|
rs28385026
|
0.00240
|
NM_000260.4(MYO7A):c.4992C>T (p.Thr1664=)
|
rs181573957
|
0.00240
|
NM_133259.4(LRPPRC):c.3034C>T (p.Pro1012Ser)
|
rs113374262
|
0.00239
|
NM_000284.4(PDHA1):c.292-59C>T
|
rs186854596
|
0.00238
|
NM_201548.5(CERKL):c.157G>A (p.Glu53Lys)
|
rs141389059
|
0.00238
|
NM_000157.4(GBA1):c.1444G>A (p.Asp482Asn)
|
rs75671029
|
0.00236
|
NM_001164508.2(NEB):c.4272G>C (p.Thr1424=)
|
rs35654397
|
0.00236
|
NM_001352514.2(HLCS):c.1074G>A (p.Thr358=)
|
rs116985497
|
0.00235
|
NM_019098.5(CNGB3):c.1439G>A (p.Arg480Gln)
|
rs77277189
|
0.00234
|
NM_206933.4(USH2A):c.4560C>T (p.Ile1520=)
|
rs148000219
|
0.00234
|
NM_000057.4(BLM):c.4077-10C>T
|
rs145310008
|
0.00233
|
NM_000091.5(COL4A3):c.3031C>T (p.Arg1011Cys)
|
rs73996408
|
0.00233
|
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_001079802.2(FKTN):c.1297A>G (p.Thr433Ala)
|
rs141918432
|
0.00228
|
NM_001369.3(DNAH5):c.624C>T (p.Asn208=)
|
rs139640247
|
0.00228
|
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile)
|
rs61729954
|
0.00227
|
NM_182894.3(VSX2):c.162C>A (p.Asp54Glu)
|
rs61747367
|
0.00226
|
NM_000784.4(CYP27A1):c.243G>A (p.Leu81=)
|
rs75897848
|
0.00225
|
NM_033056.4(PCDH15):c.5414C>T (p.Pro1805Leu)
|
rs114137983
|
0.00224
|
NM_000016.6(ACADM):c.469-9A>G
|
rs181322317
|
0.00223
|
NM_000466.3(PEX1):c.934A>G (p.Ile312Val)
|
rs146312634
|
0.00223
|
NM_000498.3(CYP11B2):c.1272T>C (p.Asn424=)
|
rs75506816
|
0.00220
|
NM_003907.3(EIF2B5):c.1686G>A (p.Gln562=)
|
rs114216498
|
0.00220
|
NM_000019.4(ACAT1):c.60G>C (p.Arg20=)
|
rs77311724
|
0.00219
|
NM_004937.3(CTNS):c.116C>T (p.Ser39Leu)
|
rs144751390
|
0.00219
|
NM_000466.3(PEX1):c.330C>G (p.Pro110=)
|
rs71560821
|
0.00218
|
NM_001384474.1(LOXHD1):c.5689C>T (p.Leu1897=)
|
rs202043044
|
0.00218
|
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala)
|
rs144942544
|
0.00217
|
NM_005957.5(MTHFR):c.348C>T (p.Ala116=)
|
rs144921426
|
0.00217
|
NM_201525.4(ADGRG1):c.174C>T (p.Ile58=)
|
rs140963173
|
0.00217
|
NM_000466.3(PEX1):c.2442C>T (p.Phe814=)
|
rs145430946
|
0.00216
|
NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp)
|
rs34596189
|
0.00216
|
NM_001378454.1(ALMS1):c.8445A>G (p.Ser2815=)
|
rs137932254
|
0.00215
|
NM_152564.5(VPS13B):c.10744A>G (p.Ile3582Val)
|
rs145547375
|
0.00215
|
NM_000112.4(SLC26A2):c.2087A>G (p.Asn696Ser)
|
rs34351171
|
0.00214
|
NM_001164277.2(SLC37A4):c.467C>T (p.Ala156Val)
|
rs201036248
|
0.00214
|
NM_001283009.2(RTEL1):c.2414-6C>T
|
rs376868750
|
0.00214
|
NM_003640.5(ELP1):c.2204+18G>C
|
rs115641835
|
0.00213
|
NM_001384474.1(LOXHD1):c.4822G>A (p.Val1608Ile)
|
rs140042576
|
0.00212
|
NM_000182.5(HADHA):c.-1G>T
|
rs72809666
|
0.00211
|
NM_004006.3(DMD):c.31+36946C>T
|
rs186833917
|
0.00211
|
NM_000091.5(COL4A3):c.4665G>A (p.Ala1555=)
|
rs200858199
|
0.00210
|
NM_003640.5(ELP1):c.1143G>A (p.Val381=)
|
rs35936107
|
0.00210
|
NM_153006.3(NAGS):c.1281C>G (p.Ala427=)
|
rs371886833
|
0.00210
|
NM_001164508.2(NEB):c.25367C>T (p.Thr8456Met)
|
rs78592085
|
0.00208
|
NM_006493.4(CLN5):c.-99G>C
|
rs202118652
|
0.00208
|
NM_015474.4(SAMHD1):c.237T>C (p.Pro79=)
|
rs7271776
|
0.00206
|
NM_004035.7(ACOX1):c.804G>A (p.Pro268=)
|
rs114057990
|
0.00205
|
NM_004646.4(NPHS1):c.128T>C (p.Val43Ala)
|
rs140626538
|
0.00205
|
NM_000170.3(GLDC):c.2748G>A (p.Leu916=)
|
rs139982267
|
0.00203
|
NM_003640.5(ELP1):c.1886G>A (p.Arg629His)
|
rs148378319
|
0.00203
|
NM_206933.4(USH2A):c.5932C>T (p.Pro1978Ser)
|
rs75698489
|
0.00203
|
NM_000135.4(FANCA):c.1830A>G (p.Ala610=)
|
rs1800338
|
0.00201
|
NM_000243.3(MEFV):c.1173T>C (p.Asp391=)
|
rs146077729
|
0.00201
|
NM_001142800.2(EYS):c.-337T>A
|
rs145321084
|
0.00201
|
NM_006096.4(NDRG1):c.331A>C (p.Met111Leu)
|
rs2233328
|
0.00201
|
NM_000051.4(ATM):c.162T>C (p.Tyr54=)
|
rs3218690
|
0.00200
|
NM_000154.2(GALK1):c.857G>A (p.Arg286Gln)
|
rs145641205
|
0.00200
|
NM_000498.3(CYP11B2):c.679C>T (p.Leu227=)
|
rs139346202
|
0.00200
|
NM_001164508.2(NEB):c.3593A>G (p.Asn1198Ser)
|
rs146616621
|
0.00200
|
NM_182760.4(SUMF1):c.642G>A (p.Ala214=)
|
rs141017221
|
0.00199
|
NM_000016.6(ACADM):c.468+71T>C
|
rs571856182
|
0.00198
|
NM_002454.3(MTRR):c.857C>T (p.Thr286Met)
|
rs79430644
|
0.00198
|
NM_004006.3(DMD):c.10087-20C>T
|
rs41303187
|
0.00198
|
NM_014363.6(SACS):c.10982C>T (p.Ala3661Val)
|
rs36061856
|
0.00198
|
NM_000080.4(CHRNE):c.1425C>T (p.Leu475=)
|
rs151193377
|
0.00197
|
NM_000170.3(GLDC):c.40C>A (p.Arg14Ser)
|
rs182760732
|
0.00197
|
NM_000260.4(MYO7A):c.3750+9G>A
|
rs111033252
|
0.00197
|
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr)
|
rs146451611
|
0.00197
|
NM_024996.7(GFM1):c.2190C>T (p.Asp730=)
|
rs149049400
|
0.00196
|
NM_201525.4(ADGRG1):c.1017+8G>A
|
rs186479054
|
0.00196
|
NM_004006.3(DMD):c.2380+11G>A
|
rs183120304
|
0.00195
|
NM_024649.5(BBS1):c.1719A>G (p.Gln573=)
|
rs150553044
|
0.00194
|
NM_153717.3(EVC):c.550G>A (p.Asp184Asn)
|
rs41269549
|
0.00194
|
NM_153717.3(EVC):c.93C>G (p.Ala31=)
|
rs866226288
|
0.00194
|
NM_000349.3(STAR):c.361C>T (p.Arg121Trp)
|
rs34908868
|
0.00193
|
NM_001142800.2(EYS):c.1985G>T (p.Arg662Met)
|
rs144430026
|
0.00193
|
NM_006261.5(PROP1):c.425C>T (p.Ala142Val)
|
rs143790367
|
0.00193
|
NM_022124.6(CDH23):c.3801C>T (p.Thr1267=)
|
rs56107171
|
0.00193
|
NM_000018.4(ACADVL):c.1828-4C>G
|
rs184559206
|
0.00192
|
NM_000543.5(SMPD1):c.1534G>A (p.Val512Met)
|
rs140806787
|
0.00192
|
NM_001142800.2(EYS):c.4985A>T (p.Asp1662Val)
|
rs147641443
|
0.00192
|
NM_015627.3(LDLRAP1):c.672C>T (p.Ser224=)
|
rs41291054
|
0.00191
|
NM_206933.4(USH2A):c.3621C>T (p.Ile1207=)
|
rs146462407
|
0.00190
|
NM_001360.3(DHCR7):c.321+10C>T
|
rs377108406
|
0.00189
|
NM_005609.4(PYGM):c.330C>T (p.Asp110=)
|
rs114742918
|
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_000383.4(AIRE):c.1065C>T (p.Pro355=)
|
rs201551372
|
0.00188
|
NM_000525.4(KCNJ11):c.1095C>T (p.Arg365=)
|
rs143276279
|
0.00187
|
NM_001164508.2(NEB):c.17497G>A (p.Val5833Ile)
|
rs149881695
|
0.00187
|
NM_025114.4(CEP290):c.3790C>T (p.Arg1264Cys)
|
rs139998038
|
0.00187
|
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His)
|
rs183655276
|
0.00187
|
NM_000466.3(PEX1):c.637C>T (p.Leu213Phe)
|
rs141798874
|
0.00185
|
NM_001126108.2(SLC12A3):c.1980C>T (p.Asp660=)
|
rs201519016
|
0.00185
|
NM_022124.6(CDH23):c.10026C>T (p.Asp3342=)
|
rs377118941
|
0.00185
|
NM_000284.4(PDHA1):c.511-54G>A
|
rs181933291
|
0.00184
|
NM_001369.3(DNAH5):c.3514C>A (p.Gln1172Lys)
|
rs141168110
|
0.00184
|
NM_000237.3(LPL):c.456T>C (p.Asn152=)
|
rs116678290
|
0.00183
|
NM_000492.4(CFTR):c.1365G>A (p.Ala455=)
|
rs79074685
|
0.00183
|
NM_005373.3(MPL):c.677C>A (p.Ser226Tyr)
|
rs141063159
|
0.00183
|
NM_033305.3(VPS13A):c.9078-7C>T
|
rs186819389
|
0.00183
|
NM_001164508.2(NEB):c.21685G>C (p.Asp7229His)
|
rs201979610
|
0.00182
|
NM_006019.4(TCIRG1):c.1800C>T (p.Ala600=)
|
rs145144233
|
0.00182
|
NM_000349.3(STAR):c.687G>A (p.Pro229=)
|
rs35852516
|
0.00180
|
NM_004006.3(DMD):c.9682T>C (p.Phe3228Leu)
|
rs141392048
|
0.00180
|
NM_182760.4(SUMF1):c.664G>C (p.Gly222Arg)
|
rs137917233
|
0.00180
|
NM_000330.4(RS1):c.548C>T (p.Thr183Ile)
|
rs150172233
|
0.00178
|
NM_001384474.1(LOXHD1):c.1617G>A (p.Met539Ile)
|
rs143142227
|
0.00178
|
NM_130849.4(SLC39A4):c.504G>A (p.Glu168=)
|
rs138825974
|
0.00178
|
NM_138694.4(PKHD1):c.5100C>T (p.Thr1700=)
|
rs143717242
|
0.00178
|
NM_152564.5(VPS13B):c.3866C>G (p.Thr1289Ser)
|
rs145569846
|
0.00178
|
NM_000521.4(HEXB):c.383T>G (p.Leu128Arg)
|
rs113678356
|
0.00177
|
NM_152419.3(HGSNAT):c.828A>G (p.Thr276=)
|
rs182393180
|
0.00177
|
NM_000151.4(G6PC1):c.610G>T (p.Ala204Ser)
|
rs201961848
|
0.00176
|
NM_001369.3(DNAH5):c.1356G>A (p.Lys452=)
|
rs144748846
|
0.00176
|
NM_022124.6(CDH23):c.6713-8G>A
|
rs369946986
|
0.00176
|
NM_001126108.2(SLC12A3):c.1561A>G (p.Ile521Val)
|
rs147046379
|
0.00175
|
NM_001142800.2(EYS):c.7737T>C (p.Thr2579=)
|
rs191846522
|
0.00175
|
NM_004629.2(FANCG):c.1638T>C (p.Gly546=)
|
rs45537335
|
0.00175
|
NM_001875.5(CPS1):c.783C>T (p.Ile261=)
|
rs142468138
|
0.00174
|
NM_000182.5(HADHA):c.2060T>C (p.Met687Thr)
|
rs149632783
|
0.00173
|
NM_000349.3(STAR):c.141G>A (p.Thr47=)
|
rs147318238
|
0.00173
|
NM_000352.6(ABCC8):c.945C>T (p.Ala315=)
|
rs138521721
|
0.00173
|
NM_001384474.1(LOXHD1):c.3090G>A (p.Thr1030=)
|
rs113994614
|
0.00173
|
NM_001953.5(TYMP):c.1290G>A (p.Arg430=)
|
rs570574111
|
0.00173
|
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser)
|
rs146077918
|
0.00172
|
NM_000532.5(PCCB):c.49C>A (p.Leu17Met)
|
rs200185747
|
0.00172
|
NM_002617.4(PEX10):c.712G>C (p.Gly238Arg)
|
rs61736380
|
0.00172
|
NM_206933.4(USH2A):c.14753C>T (p.Thr4918Met)
|
rs56136489
|
0.00172
|
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr)
|
rs140992177
|
0.00171
|
NM_022132.5(MCCC2):c.1217-7C>G
|
rs148369119
|
0.00171
|
NM_000284.4(PDHA1):c.798A>G (p.Thr266=)
|
rs35752213
|
0.00170
|
NM_001386140.1(MTTP):c.419A>G (p.Asn140Ser)
|
rs61733140
|
0.00170
|
NM_014363.6(SACS):c.2988A>G (p.Leu996=)
|
rs111846884
|
0.00170
|
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg)
|
rs1800059
|
0.00169
|
NM_001130987.2(DYSF):c.3403-10G>A
|
rs116733194
|
0.00168
|
NM_000159.4(GCDH):c.271+3G>A
|
rs75430014
|
0.00167
|
NM_024685.4(BBS10):c.1669A>G (p.Ile557Val)
|
rs139719799
|
0.00167
|
NM_206933.4(USH2A):c.3648C>T (p.Tyr1216=)
|
rs147947402
|
0.00167
|
NM_000094.4(COL7A1):c.3605G>A (p.Arg1202His)
|
rs149011081
|
0.00166
|
NM_000051.4(ATM):c.7788+8G>T
|
rs112775908
|
0.00165
|
NM_130849.4(SLC39A4):c.1704G>A (p.Thr568=)
|
rs115808560
|
0.00165
|
NM_000260.4(MYO7A):c.1007G>A (p.Arg336His)
|
rs45629132
|
0.00164
|
NM_201548.5(CERKL):c.27G>A (p.Arg9=)
|
rs368855330
|
0.00164
|
NM_000057.4(BLM):c.2268A>G (p.Lys756=)
|
rs146013879
|
0.00163
|
NM_153717.3(EVC):c.1500G>A (p.Met500Ile)
|
rs149898884
|
0.00163
|
NM_201548.5(CERKL):c.820+9G>A
|
rs189638090
|
0.00163
|
NM_000071.3(CBS):c.1059G>A (p.Thr353=)
|
rs61735859
|
0.00162
|
NM_001039958.2(MESP2):c.908T>C (p.Leu303Pro)
|
rs185706635
|
0.00162
|
NM_004006.3(DMD):c.1483-7C>G
|
rs112463388
|
0.00162
|
NM_001130987.2(DYSF):c.5503C>T (p.Arg1835Trp)
|
rs139879284
|
0.00161
|
NM_000103.4(CYP19A1):c.963C>G (p.Leu321=)
|
rs59359360
|
0.00160
|
NM_000370.3(TTPA):c.147C>T (p.Asp49=)
|
rs199805621
|
0.00160
|
NM_000498.3(CYP11B2):c.182A>T (p.Tyr61Phe)
|
rs147109119
|
0.00160
|
NM_000528.4(MAN2B1):c.2283C>T (p.Pro761=)
|
rs138358081
|
0.00160
|
NM_000642.3(AGL):c.1885G>A (p.Glu629Lys)
|
rs146041189
|
0.00160
|
NM_001384474.1(LOXHD1):c.5649G>A (p.Glu1883=)
|
rs180858375
|
0.00160
|
NM_005609.4(PYGM):c.1888G>A (p.Val630Met)
|
rs115347245
|
0.00160
|
NM_017777.4(MKS1):c.12C>T (p.Thr4=)
|
rs372471169
|
0.00160
|
NM_000091.5(COL4A3):c.4445C>T (p.Ala1482Val)
|
rs199755408
|
0.00159
|
NM_206933.4(USH2A):c.12557T>C (p.Ile4186Thr)
|
rs112120466
|
0.00159
|
NM_001130987.2(DYSF):c.1626C>T (p.Asn542=)
|
rs139495331
|
0.00158
|
NM_001369.3(DNAH5):c.1206T>A (p.Asn402Lys)
|
rs140782270
|
0.00158
|
NM_024996.7(GFM1):c.788A>G (p.Gln263Arg)
|
rs115984741
|
0.00158
|
NM_201548.5(CERKL):c.783T>C (p.Pro261=)
|
rs77741297
|
0.00158
|
NM_000466.3(PEX1):c.130-9T>C
|
rs377337949
|
0.00157
|
NM_002225.5(IVD):c.11C>T (p.Ala4Val)
|
rs148189323
|
0.00157
|
NM_000203.5(IDUA):c.493+10C>T
|
rs200000194
|
0.00156
|
NM_001164508.2(NEB):c.19377C>T (p.Asp6459=)
|
rs187211085
|
0.00156
|
NM_001370658.1(BTD):c.201C>T (p.Asn67=)
|
rs147057169
|
0.00156
|
NM_012144.4(DNAI1):c.1902C>T (p.His634=)
|
rs139197229
|
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_001875.5(CPS1):c.1630A>T (p.Thr544Ser)
|
rs144230667
|
0.00154
|
NM_000527.5(LDLR):c.498C>T (p.Ala166=)
|
rs10417394
|
0.00153
|
NM_001130987.2(DYSF):c.4756-3C>T
|
rs371227553
|
0.00153
|
NM_001142800.2(EYS):c.1899A>G (p.Gln633=)
|
rs373197894
|
0.00153
|
NM_004006.3(DMD):c.8571T>C (p.Thr2857=)
|
rs72466570
|
0.00153
|
NM_000035.4(ALDOB):c.906T>C (p.Tyr302=)
|
rs138866018
|
0.00151
|
NM_022124.6(CDH23):c.3010G>A (p.Val1004Met)
|
rs79705488
|
0.00151
|
NM_000053.4(ATP7B):c.1620C>T (p.Leu540=)
|
rs145798966
|
0.00150
|
NM_000057.4(BLM):c.-5+16G>C
|
rs547768822
|
0.00150
|
NM_000543.5(SMPD1):c.1589G>C (p.Gly530Ala)
|
rs35122256
|
0.00150
|
NM_022124.6(CDH23):c.6329C>T (p.Ala2110Val)
|
rs111033492
|
0.00150
|
NM_000359.3(TGM1):c.61A>G (p.Thr21Ala)
|
rs140542428
|
0.00149
|
NM_001384474.1(LOXHD1):c.5023C>T (p.Arg1675Cys)
|
rs201060702
|
0.00149
|
NM_004006.3(DMD):c.2293-15G>C
|
rs369384547
|
0.00149
|
NM_004006.3(DMD):c.4344+39T>A
|
rs72468644
|
0.00149
|
NM_014363.6(SACS):c.810T>G (p.Phe270Leu)
|
rs116907814
|
0.00149
|
NM_000492.4(CFTR):c.1393-42G>A
|
rs34906874
|
0.00148
|
NM_000492.4(CFTR):c.2820T>G (p.Thr940=)
|
rs60887846
|
0.00148
|
NM_001126108.2(SLC12A3):c.1392C>A (p.Ala464=)
|
rs118121751
|
0.00146
|
NM_001126108.2(SLC12A3):c.2190C>T (p.Leu730=)
|
rs150692587
|
0.00146
|
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys)
|
rs199573929
|
0.00146
|
NM_004006.3(DMD):c.2971G>C (p.Glu991Gln)
|
rs72468667
|
0.00146
|
NM_052845.4(MMAB):c.624C>T (p.Asn208=)
|
rs146687452
|
0.00146
|
NM_206933.4(USH2A):c.486-15C>T
|
rs114194722
|
0.00146
|
NM_001164508.2(NEB):c.22878C>A (p.Ala7626=)
|
rs185574478
|
0.00145
|
NM_003742.4(ABCB11):c.156G>A (p.Arg52=)
|
rs140587295
|
0.00145
|
NM_005957.5(MTHFR):c.1761C>T (p.Ala587=)
|
rs115049252
|
0.00145
|
NM_138694.4(PKHD1):c.7307C>T (p.Thr2436Ile)
|
rs147851214
|
0.00145
|
NM_000543.5(SMPD1):c.1340+7C>T
|
rs116480929
|
0.00144
|
NM_006019.4(TCIRG1):c.482C>T (p.Pro161Leu)
|
rs34227834
|
0.00144
|
NM_024301.5(FKRP):c.567C>T (p.Pro189=)
|
rs201454433
|
0.00144
|
NM_000199.5(SGSH):c.641C>A (p.Ala214Asp)
|
rs74000629
|
0.00143
|
NM_001126108.2(SLC12A3):c.93C>T (p.Pro31=)
|
rs34055681
|
0.00143
|
NM_004006.3(DMD):c.7472A>G (p.Gln2491Arg)
|
rs147694734
|
0.00143
|
NM_201253.3(CRB1):c.2307C>T (p.Arg769=)
|
rs151104285
|
0.00143
|
NM_001164508.2(NEB):c.7126G>C (p.Val2376Leu)
|
rs141155976
|
0.00142
|
NM_001142800.2(EYS):c.7107G>A (p.Leu2369=)
|
rs187604073
|
0.00141
|
NM_206933.4(USH2A):c.10518G>A (p.Thr3506=)
|
rs114719960
|
0.00141
|
NM_000057.4(BLM):c.2263A>G (p.Lys755Glu)
|
rs142551229
|
0.00140
|
NM_000152.5(GAA):c.1352C>G (p.Pro451Arg)
|
rs7215458
|
0.00140
|
NM_000235.4(LIPA):c.754A>T (p.Ile252Leu)
|
rs147493628
|
0.00140
|
NM_000237.3(LPL):c.1128C>T (p.Ile376=)
|
rs299
|
0.00140
|
NM_000466.3(PEX1):c.1797A>G (p.Gly599=)
|
rs76986636
|
0.00140
|
NM_001164508.2(NEB):c.19626T>C (p.Asp6542=)
|
rs190336010
|
0.00140
|
NM_001174089.2(SLC4A11):c.991C>T (p.Arg331Trp)
|
rs138137682
|
0.00140
|
NM_006096.4(NDRG1):c.31G>A (p.Ala11Thr)
|
rs145871479
|
0.00140
|
NM_014244.5(ADAMTS2):c.139+4G>A
|
rs1023653032
|
0.00140
|
NM_138694.4(PKHD1):c.11338C>T (p.Pro3780Ser)
|
rs41273722
|
0.00140
|
NM_000051.4(ATM):c.1066-6T>G
|
rs201686625
|
0.00139
|
NM_001369.3(DNAH5):c.7998G>T (p.Glu2666Asp)
|
rs148720124
|
0.00139
|
NM_000492.4(CFTR):c.4243-5C>T
|
rs114402068
|
0.00138
|
NM_001384474.1(LOXHD1):c.3024C>T (p.Val1008=)
|
rs370616818
|
0.00138
|
NM_004646.4(NPHS1):c.1638T>G (p.Thr546=)
|
rs115444936
|
0.00138
|
NM_005055.5(RAPSN):c.821G>A (p.Ser274Asn)
|
rs140996453
|
0.00138
|
NM_025114.4(CEP290):c.4102G>A (p.Asp1368Asn)
|
rs184143186
|
0.00138
|
NM_000051.4(ATM):c.998C>T (p.Ser333Phe)
|
rs28904919
|
0.00137
|
NM_000151.4(G6PC1):c.-45G>A
|
rs367816430
|
0.00137
|
NM_000489.6(ATRX):c.3541G>C (p.Val1181Leu)
|
rs61758732
|
0.00137
|
NM_000053.4(ATP7B):c.1278C>T (p.Val426=)
|
rs143556945
|
0.00135
|
NM_138694.4(PKHD1):c.3537T>C (p.Asn1179=)
|
rs141574387
|
0.00135
|
NM_153006.3(NAGS):c.1216G>A (p.Asp406Asn)
|
rs140481641
|
0.00135
|
NM_000349.3(STAR):c.504C>T (p.His168=)
|
rs147138315
|
0.00134
|
NM_002778.4(PSAP):c.120C>T (p.Ser40=)
|
rs141231601
|
0.00134
|
NM_005957.5(MTHFR):c.708C>T (p.Phe236=)
|
rs34279942
|
0.00134
|
NM_014363.6(SACS):c.2983G>T (p.Val995Phe)
|
rs142967124
|
0.00134
|
NM_033056.4(PCDH15):c.5353T>C (p.Ser1785Pro)
|
rs144261647
|
0.00134
|
NM_000195.5(HPS1):c.1406A>G (p.Gln469Arg)
|
rs148978269
|
0.00133
|
NM_000237.3(LPL):c.1136C>T (p.Thr379Ile)
|
rs76708715
|
0.00133
|
NM_001370658.1(BTD):c.339G>A (p.Pro113=)
|
rs181743799
|
0.00133
|
NM_003907.3(EIF2B5):c.1934C>T (p.Ala645Val)
|
rs150130018
|
0.00133
|
NM_006623.4(PHGDH):c.510+6A>G
|
rs371736796
|
0.00133
|
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=)
|
rs201838492
|
0.00133
|
NM_000091.5(COL4A3):c.112C>G (p.Gln38Glu)
|
rs201607115
|
0.00132
|
NM_000390.4(CHM):c.1641G>T (p.Leu547=)
|
rs148301015
|
0.00132
|
NM_001079866.2(BCS1L):c.775T>A (p.Ser259Thr)
|
rs77729067
|
0.00132
|
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_000525.4(KCNJ11):c.584G>A (p.Arg195His)
|
rs5217
|
0.00131
|
NM_001201543.2(FAM161A):c.1989C>T (p.Val663=)
|
rs201362403
|
0.00131
|
NM_014244.5(ADAMTS2):c.94C>T (p.Pro32Ser)
|
rs547548078
|
0.00131
|
NM_012203.2(GRHPR):c.286C>T (p.Arg96Cys)
|
rs78920863
|
0.00130
|
NM_130849.4(SLC39A4):c.1743C>T (p.Val581=)
|
rs144252108
|
0.00130
|
NM_001360.3(DHCR7):c.208G>A (p.Gly70Ser)
|
rs144512551
|
0.00129
|
NM_014140.4(SMARCAL1):c.1196C>T (p.Thr399Met)
|
rs139872089
|
0.00129
|
NM_000159.4(GCDH):c.1143C>T (p.Ile381=)
|
rs142553521
|
0.00128
|
NM_001283009.2(RTEL1):c.2661C>T (p.Pro887=)
|
rs3848671
|
0.00128
|
NM_032520.5(GNPTG):c.814A>G (p.Arg272Gly)
|
rs8062558
|
0.00128
|
NM_054012.4(ASS1):c.1101G>A (p.Leu367=)
|
rs139031154
|
0.00128
|
NM_153717.3(EVC):c.1040C>T (p.Thr347Met)
|
rs34947207
|
0.00127
|
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg)
|
rs140781259
|
0.00126
|
NM_000532.5(PCCB):c.138G>C (p.Ala46=)
|
rs145075817
|
0.00126
|
NM_005609.4(PYGM):c.2286T>G (p.Ile762Met)
|
rs75685607
|
0.00126
|
NM_000051.4(ATM):c.4473C>T (p.Phe1491=)
|
rs4988008
|
0.00125
|
NM_000158.4(GBE1):c.1521T>C (p.Thr507=)
|
rs372821643
|
0.00125
|
NM_001164508.2(NEB):c.2510A>G (p.Lys837Arg)
|
rs189623595
|
0.00125
|
NM_002024.6(FMR1):c.1572C>T (p.Ser524=)
|
rs143889976
|
0.00125
|
NM_057176.3(BSND):c.189C>T (p.Val63=)
|
rs144505461
|
0.00125
|
NM_138694.4(PKHD1):c.2348G>A (p.Arg783Gln)
|
rs185941281
|
0.00125
|
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg)
|
rs11212587
|
0.00124
|
NM_000151.4(G6PC1):c.340+10C>A
|
rs368450665
|
0.00124
|
NM_000466.3(PEX1):c.3426C>T (p.Thr1142=)
|
rs143220470
|
0.00124
|
NM_004006.3(DMD):c.1888A>G (p.Thr630Ala)
|
rs72468692
|
0.00124
|
NM_004006.3(DMD):c.5265C>T (p.Pro1755=)
|
rs145515413
|
0.00124
|
NM_005373.3(MPL):c.754T>C (p.Tyr252His)
|
rs141311765
|
0.00124
|
NM_006261.5(PROP1):c.471C>T (p.Tyr157=)
|
rs145883811
|
0.00124
|
NM_022124.6(CDH23):c.3361A>T (p.Ile1121Phe)
|
rs200542052
|
0.00124
|
NM_022124.6(CDH23):c.6648C>T (p.Ala2216=)
|
rs186394654
|
0.00124
|
NM_024301.5(FKRP):c.740C>A (p.Pro247Gln)
|
rs528000488
|
0.00124
|
NM_024996.7(GFM1):c.690-5C>G
|
rs201685981
|
0.00124
|
NM_000091.5(COL4A3):c.2886C>T (p.Phe962=)
|
rs77846212
|
0.00123
|
NM_001386140.1(MTTP):c.2025C>T (p.Ile675=)
|
rs79023226
|
0.00123
|
NM_003227.4(TFR2):c.1762A>T (p.Met588Leu)
|
rs143251494
|
0.00123
|
NM_015506.3(MMACHC):c.332G>A (p.Arg111Gln)
|
rs200300254
|
0.00123
|
NM_001164508.2(NEB):c.12640-4A>G
|
rs549888246
|
0.00122
|
NM_012144.4(DNAI1):c.81+61A>G
|
rs192896482
|
0.00122
|
NM_014140.4(SMARCAL1):c.1851+5G>A
|
rs2066514
|
0.00122
|
NM_019098.5(CNGB3):c.43G>C (p.Gly15Arg)
|
rs150260103
|
0.00122
|
NM_033380.3(COL4A5):c.909T>C (p.Asp303=)
|
rs144586397
|
0.00122
|
NM_000091.5(COL4A3):c.3939G>A (p.Gly1313=)
|
rs141552752
|
0.00121
|
NM_000094.4(COL7A1):c.2367C>T (p.Ser789=)
|
rs139521707
|
0.00121
|
NM_000094.4(COL7A1):c.6090C>T (p.Ser2030=)
|
rs200360245
|
0.00121
|
NM_001142800.2(EYS):c.5335G>A (p.Gly1779Ser)
|
rs186499459
|
0.00121
|
NM_000128.4(F11):c.663C>T (p.Pro221=)
|
rs142846329
|
0.00120
|
NM_000202.8(IDS):c.825C>T (p.Asp275=)
|
rs148038243
|
0.00120
|
NM_002454.3(MTRR):c.144C>T (p.Thr48=)
|
rs138612190
|
0.00120
|
NM_016955.4(SEPSECS):c.780A>G (p.Ser260=)
|
rs61747281
|
0.00120
|
NM_153717.3(EVC):c.1464+5C>T
|
rs369734950
|
0.00120
|
NM_001164508.2(NEB):c.12C>T (p.Asp4=)
|
rs117178114
|
0.00119
|
NM_001378454.1(ALMS1):c.945T>C (p.Ser315=)
|
rs183390773
|
0.00119
|
NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val)
|
rs141373204
|
0.00119
|
NM_004006.3(DMD):c.5620G>A (p.Glu1874Lys)
|
rs142441725
|
0.00119
|
NM_001164508.2(NEB):c.17601G>A (p.Val5867=)
|
rs58263509
|
0.00118
|
NM_002529.4(NTRK1):c.865C>A (p.Gln289Lys)
|
rs137979116
|
0.00118
|
NM_005957.5(MTHFR):c.1556G>T (p.Arg519Leu)
|
rs45449298
|
0.00118
|
NM_152564.5(VPS13B):c.11158G>A (p.Glu3720Lys)
|
rs150393340
|
0.00118
|
NM_206933.4(USH2A):c.1179A>G (p.Gln393=)
|
rs148447919
|
0.00118
|
NM_001164508.2(NEB):c.8202C>T (p.Val2734=)
|
rs144595998
|
0.00117
|
NM_017777.4(MKS1):c.261+7C>T
|
rs200156751
|
0.00117
|
NM_000094.4(COL7A1):c.7930-19C>G
|
rs191603815
|
0.00116
|
NM_001164508.2(NEB):c.4221G>A (p.Gln1407=)
|
rs6709752
|
0.00116
|
NM_004937.3(CTNS):c.220G>A (p.Asp74Asn)
|
rs139364393
|
0.00116
|
NM_130849.4(SLC39A4):c.1851C>T (p.Pro617=)
|
rs61729885
|
0.00116
|
NM_130849.4(SLC39A4):c.66G>A (p.Ala22=)
|
rs142910470
|
0.00116
|
NM_000057.4(BLM):c.3849G>A (p.Gln1283=)
|
rs140524886
|
0.00115
|
NM_001164508.2(NEB):c.469A>G (p.Ile157Val)
|
rs188718613
|
0.00115
|
NM_138694.4(PKHD1):c.11130C>T (p.Ile3710=)
|
rs146224907
|
0.00115
|
NM_001378454.1(ALMS1):c.10788G>C (p.Val3596=)
|
rs45445398
|
0.00114
|
NM_001673.5(ASNS):c.1364C>T (p.Ser455Phe)
|
rs61733327
|
0.00114
|
NM_004453.4(ETFDH):c.1590A>G (p.Glu530=)
|
rs143015234
|
0.00114
|
NM_005055.5(RAPSN):c.474C>T (p.Asp158=)
|
rs56245238
|
0.00114
|
NM_130849.4(SLC39A4):c.518C>T (p.Ala173Val)
|
rs141890870
|
0.00114
|
NM_000133.4(F9):c.696T>C (p.Asp232=)
|
rs140835723
|
0.00113
|
NM_000152.5(GAA):c.915G>A (p.Gly305=)
|
rs150343359
|
0.00113
|
NM_000154.2(GALK1):c.1167G>A (p.Val389=)
|
rs150586960
|
0.00113
|
NM_000359.3(TGM1):c.411C>T (p.Asp137=)
|
rs145002586
|
0.00113
|
NM_000642.3(AGL):c.3431T>A (p.Ile1144Asn)
|
rs2230308
|
0.00113
|
NM_001033855.3(DCLRE1C):c.36A>C (p.Pro12=)
|
rs148108773
|
0.00113
|
NM_004006.3(DMD):c.1513G>C (p.Val505Leu)
|
rs140340626
|
0.00113
|
NM_004006.3(DMD):c.2745A>C (p.Thr915=)
|
rs149922633
|
0.00113
|
NM_004006.3(DMD):c.5984A>T (p.Tyr1995Phe)
|
rs147927593
|
0.00113
|
NM_138694.4(PKHD1):c.5358C>T (p.Ser1786=)
|
rs78543922
|
0.00113
|
NM_201525.4(ADGRG1):c.1983T>C (p.Gly661=)
|
rs111939130
|
0.00113
|
NM_000170.3(GLDC):c.2988G>C (p.Gln996His)
|
rs138640017
|
0.00112
|
NM_001164508.2(NEB):c.177G>A (p.Gln59=)
|
rs200990309
|
0.00112
|
NM_001369.3(DNAH5):c.3650T>C (p.Ile1217Thr)
|
rs112124692
|
0.00112
|
NM_014049.5(ACAD9):c.928G>A (p.Val310Ile)
|
rs139073821
|
0.00112
|
NM_000195.5(HPS1):c.198G>A (p.Ser66=)
|
rs115265574
|
0.00111
|
NM_001386140.1(MTTP):c.972G>A (p.Glu324=)
|
rs146953015
|
0.00111
|
NM_000112.4(SLC26A2):c.468C>T (p.Thr156=)
|
rs111788154
|
0.00110
|
NM_000170.3(GLDC):c.498T>C (p.Pro166=)
|
rs150193069
|
0.00110
|
NM_000274.4(OAT):c.969C>T (p.Tyr323=)
|
rs138895801
|
0.00110
|
NM_000525.4(KCNJ11):c.678C>T (p.Pro226=)
|
rs74162102
|
0.00109
|
NM_001130987.2(DYSF):c.4629C>G (p.Val1543=)
|
rs142483266
|
0.00109
|
NM_004006.3(DMD):c.7571G>A (p.Arg2524His)
|
rs151244052
|
0.00109
|
NM_014363.6(SACS):c.7527T>C (p.Tyr2509=)
|
rs140034972
|
0.00109
|
NM_000030.3(AGXT):c.573C>T (p.Thr191=)
|
rs146483092
|
0.00108
|
NM_001142800.2(EYS):c.2039T>C (p.Ile680Thr)
|
rs376807770
|
0.00108
|
NM_001164508.2(NEB):c.23267T>C (p.Met7756Thr)
|
rs201767727
|
0.00108
|
NM_001164508.2(NEB):c.4834C>T (p.Arg1612Cys)
|
rs200545007
|
0.00108
|
NM_001283009.2(RTEL1):c.959T>C (p.Met320Thr)
|
rs143550996
|
0.00108
|
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_206933.4(USH2A):c.5612G>A (p.Gly1871Asp)
|
rs140895792
|
0.00108
|
NM_000128.4(F11):c.861C>T (p.Ile287=)
|
rs5964
|
0.00107
|
NM_003742.4(ABCB11):c.1636C>A (p.Gln546Lys)
|
rs111482608
|
0.00107
|
NM_000359.3(TGM1):c.106C>A (p.Arg36Ser)
|
rs145197904
|
0.00106
|
NM_000397.4(CYBB):c.686G>A (p.Arg229His)
|
rs139670417
|
0.00106
|
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_000271.5(NPC1):c.3217G>A (p.Gly1073Ser)
|
rs141440861
|
0.00105
|
NM_001365088.1(SLC12A6):c.3120C>T (p.Thr1040=)
|
rs571120129
|
0.00105
|
NM_138694.4(PKHD1):c.3783C>T (p.Gly1261=)
|
rs138388301
|
0.00105
|
NM_000543.5(SMPD1):c.762G>A (p.Leu254=)
|
rs143939609
|
0.00104
|
NM_006493.4(CLN5):c.-146T>C
|
rs201615354
|
0.00104
|
NM_000271.5(NPC1):c.3198C>T (p.Thr1066=)
|
rs145145840
|
0.00103
|
NM_000543.5(SMPD1):c.1091+9C>T
|
rs143612450
|
0.00103
|
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_206933.4(USH2A):c.2256T>C (p.His752=)
|
rs111033281
|
0.00103
|
NM_000051.4(ATM):c.2127T>C (p.Ile709=)
|
rs56252953
|
0.00102
|
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_138694.4(PKHD1):c.5478G>A (p.Ala1826=)
|
rs137925439
|
0.00102
|
NM_000046.5(ARSB):c.82C>T (p.Leu28=)
|
rs138587718
|
0.00101
|
NM_000092.5(COL4A4):c.1776T>C (p.Ala592=)
|
rs188655353
|
0.00101
|
NM_000152.5(GAA):c.726G>A (p.Ala242=)
|
rs148578399
|
0.00101
|
NM_000231.3(SGCG):c.539A>T (p.Glu180Val)
|
rs114160429
|
0.00101
|
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=)
|
rs1800131
|
0.00101
|
NM_001164508.2(NEB):c.8553G>A (p.Gly2851=)
|
rs200624735
|
0.00101
|
NM_138694.4(PKHD1):c.275G>A (p.Arg92Gln)
|
rs145886657
|
0.00101
|
NM_000128.4(F11):c.1020C>T (p.Asn340=)
|
rs149052026
|
0.00100
|
NM_006019.4(TCIRG1):c.813C>T (p.Leu271=)
|
rs377108710
|
0.00099
|
NM_033380.3(COL4A5):c.580A>G (p.Ile194Val)
|
rs145970300
|
0.00099
|
NM_000027.4(AGA):c.762C>T (p.Ala254=)
|
rs145465919
|
0.00098
|
NM_000057.4(BLM):c.3879A>G (p.Glu1293=)
|
rs28377085
|
0.00098
|
NM_001126108.2(SLC12A3):c.1284C>T (p.Thr428=)
|
rs34216426
|
0.00098
|
NM_001130987.2(DYSF):c.2982C>T (p.Asn994=)
|
rs142404822
|
0.00098
|
NM_001384474.1(LOXHD1):c.4440G>A (p.Val1480=)
|
rs76946640
|
0.00098
|
NM_004006.3(DMD):c.2261G>T (p.Gly754Val)
|
rs151242451
|
0.00098
|
NM_015702.3(MMADHC):c.707C>T (p.Pro236Leu)
|
rs143753228
|
0.00098
|
NM_000170.3(GLDC):c.1401+9A>G
|
rs75555848
|
0.00097
|
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_014363.6(SACS):c.3074A>T (p.Asn1025Ile)
|
rs150981983
|
0.00097
|
NM_032316.3(NICN1):c.*2307G>C
|
rs544461335
|
0.00097
|
NM_032383.5(HPS3):c.51C>T (p.Pro17=)
|
rs141883346
|
0.00097
|
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu)
|
rs34231402
|
0.00096
|
NM_000094.4(COL7A1):c.1191C>G (p.Thr397=)
|
rs143270071
|
0.00096
|
NM_000126.4(ETFA):c.826A>C (p.Ile276Leu)
|
rs141200145
|
0.00096
|
NM_000282.4(PCCA):c.2172C>T (p.Leu724=)
|
rs150352833
|
0.00096
|
NM_000487.6(ARSA):c.1325A>G (p.Asn442Ser)
|
rs6151427
|
0.00096
|
NM_001142800.2(EYS):c.748+6A>T
|
rs373742788
|
0.00096
|
NM_001283009.2(RTEL1):c.2810C>T (p.Pro937Leu)
|
rs140986557
|
0.00096
|
NM_001283009.2(RTEL1):c.3049G>A (p.Asp1017Asn)
|
rs61736617
|
0.00096
|
NM_001369.3(DNAH5):c.88C>T (p.Arg30Trp)
|
rs114220185
|
0.00096
|
NM_002454.3(MTRR):c.869T>C (p.Ile290Thr)
|
rs144899305
|
0.00096
|
NM_024649.5(BBS1):c.1181G>A (p.Gly394Asp)
|
rs141528309
|
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_004937.3(CTNS):c.834G>A (p.Leu278=)
|
rs139519275
|
0.00094
|
NM_054012.4(ASS1):c.1134C>T (p.Asn378=)
|
rs140715869
|
0.00094
|
NM_000057.4(BLM):c.3359-13A>G
|
rs200250931
|
0.00093
|
NM_000094.4(COL7A1):c.8568C>T (p.Ser2856=)
|
rs148454724
|
0.00093
|
NM_006019.4(TCIRG1):c.1536C>T (p.Tyr512=)
|
rs138049763
|
0.00093
|
NM_020533.3(MCOLN1):c.32-10A>G
|
rs371191277
|
0.00093
|
NM_138694.4(PKHD1):c.1307C>G (p.Thr436Ser)
|
rs146789444
|
0.00093
|
NM_201548.5(CERKL):c.735G>C (p.Leu245=)
|
rs140898616
|
0.00093
|
NM_000057.4(BLM):c.1601A>G (p.Asn534Ser)
|
rs35224686
|
0.00092
|
NM_000441.2(SLC26A4):c.2190G>T (p.Gln730His)
|
rs142723249
|
0.00092
|
NM_000709.4(BCKDHA):c.708C>T (p.Phe236=)
|
rs146932786
|
0.00092
|
NM_003742.4(ABCB11):c.408C>T (p.Ser136=)
|
rs183214630
|
0.00092
|
NM_014049.5(ACAD9):c.453+8A>G
|
rs199919500
|
0.00092
|
NM_014244.5(ADAMTS2):c.2865C>T (p.His955=)
|
rs752790963
|
0.00092
|
NM_057176.3(BSND):c.527G>A (p.Arg176His)
|
rs143711308
|
0.00092
|
NM_000310.4(PPT1):c.904A>G (p.Ile302Val)
|
rs146902902
|
0.00091
|
NM_000481.4(AMT):c.510G>C (p.Val170=)
|
rs140380954
|
0.00091
|
NM_006623.4(PHGDH):c.1208A>G (p.Asn403Ser)
|
rs139827025
|
0.00091
|
NM_007259.5(VPS45):c.318C>T (p.Asp106=)
|
rs150076399
|
0.00091
|
NM_022124.6(CDH23):c.2830A>G (p.Ser944Gly)
|
rs188098974
|
0.00091
|
NM_025114.4(CEP290):c.4806G>A (p.Thr1602=)
|
rs201614215
|
0.00091
|
NM_152564.5(VPS13B):c.10905T>C (p.Pro3635=)
|
rs61754107
|
0.00091
|
NM_000057.4(BLM):c.3592G>A (p.Val1198Met)
|
rs142928725
|
0.00090
|
NM_000260.4(MYO7A):c.1554+7C>T
|
rs150114658
|
0.00090
|
NM_001283009.2(RTEL1):c.762C>T (p.Asn254=)
|
rs150877719
|
0.00090
|
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_000033.4(ABCD1):c.895C>T (p.His299Tyr)
|
rs202195978
|
0.00088
|
NM_000108.5(DLD):c.583-3C>T
|
rs186031819
|
0.00088
|
NM_000153.4(GALC):c.15A>G (p.Leu5=)
|
rs529350155
|
0.00088
|
NM_138694.4(PKHD1):c.3834C>T (p.Phe1278=)
|
rs145960781
|
0.00088
|
NM_152564.5(VPS13B):c.7695C>T (p.Cys2565=)
|
rs114038492
|
0.00088
|
NM_000151.4(G6PC1):c.562+10G>A
|
rs199505156
|
0.00087
|
NM_001130987.2(DYSF):c.2147C>T (p.Ala716Val)
|
rs145007061
|
0.00087
|
NM_001352514.2(HLCS):c.1695C>T (p.Leu565=)
|
rs138209330
|
0.00087
|
NM_000133.4(F9):c.19A>T (p.Ile7Phe)
|
rs150190385
|
0.00086
|
NM_001283009.2(RTEL1):c.3702G>A (p.Pro1234=)
|
rs368176460
|
0.00086
|
NM_005726.6(TSFM):c.69T>A (p.Leu23=)
|
rs147317818
|
0.00086
|
NM_017777.4(MKS1):c.27C>T (p.Asp9=)
|
rs369488349
|
0.00086
|
NM_019098.5(CNGB3):c.1534A>G (p.Ile512Val)
|
rs146062161
|
0.00086
|
NM_031885.5(BBS2):c.1380C>T (p.Phe460=)
|
rs141046144
|
0.00086
|
NM_206933.4(USH2A):c.6628C>G (p.Pro2210Ala)
|
rs192115090
|
0.00086
|
NM_001033855.3(DCLRE1C):c.1101A>G (p.Pro367=)
|
rs143782439
|
0.00085
|
NM_001033855.3(DCLRE1C):c.306+7A>G
|
rs368317341
|
0.00085
|
NM_003742.4(ABCB11):c.174C>T (p.Asp58=)
|
rs11568362
|
0.00085
|
NM_015272.5(RPGRIP1L):c.2240G>A (p.Arg747Gln)
|
rs142349647
|
0.00085
|
NM_003640.5(ELP1):c.1364A>G (p.Asp455Gly)
|
rs149685738
|
0.00084
|
NM_003640.5(ELP1):c.203G>T (p.Ser68Ile)
|
rs143723093
|
0.00084
|
NM_138694.4(PKHD1):c.9492C>T (p.Ser3164=)
|
rs17752991
|
0.00084
|
NM_206933.4(USH2A):c.5048A>G (p.Asn1683Ser)
|
rs140080678
|
0.00084
|
NM_000048.4(ASL):c.1029C>T (p.Leu343=)
|
rs140532520
|
0.00083
|
NM_000094.4(COL7A1):c.5424C>T (p.Asp1808=)
|
rs755720544
|
0.00083
|
NM_000154.2(GALK1):c.864G>C (p.Thr288=)
|
rs201247556
|
0.00083
|
NM_001164508.2(NEB):c.2603T>C (p.Leu868Pro)
|
rs143123053
|
0.00083
|
NM_001283009.2(RTEL1):c.1348+6G>A
|
rs371358328
|
0.00083
|
NM_000052.7(ATP7A):c.4006A>G (p.Asn1336Asp)
|
rs146651049
|
0.00082
|
NM_001127671.2(LIFR):c.2934G>A (p.Gln978=)
|
rs148354076
|
0.00082
|
NM_001130987.2(DYSF):c.2335G>A (p.Gly779Ser)
|
rs138654170
|
0.00082
|
NM_005957.5(MTHFR):c.732C>T (p.Thr244=)
|
rs45486194
|
0.00082
|
NM_012203.2(GRHPR):c.234C>T (p.Ile78=)
|
rs143337459
|
0.00082
|
NM_000126.4(ETFA):c.6C>T (p.Phe2=)
|
rs749929239
|
0.00081
|
NM_000128.4(F11):c.797G>A (p.Ser266Asn)
|
rs145168351
|
0.00081
|
NM_000203.5(IDUA):c.408C>T (p.Ala136=)
|
rs138195998
|
0.00081
|
NM_001142800.2(EYS):c.2562C>T (p.Asp854=)
|
rs188011013
|
0.00081
|
NM_001283009.2(RTEL1):c.2787C>T (p.Ala929=)
|
rs115030322
|
0.00081
|
NM_001369.3(DNAH5):c.4373G>A (p.Arg1458Gln)
|
rs61747551
|
0.00081
|
NM_005609.4(PYGM):c.848A>G (p.Asn283Ser)
|
rs114468011
|
0.00081
|
NM_007259.5(VPS45):c.290-10T>C
|
rs192850081
|
0.00081
|
NM_000023.4(SGCA):c.843C>A (p.Ala281=)
|
rs149487996
|
0.00080
|
NM_000053.4(ATP7B):c.1375G>T (p.Val459Leu)
|
rs183044693
|
0.00080
|
NM_000091.5(COL4A3):c.4295G>A (p.Arg1432His)
|
rs200509072
|
0.00080
|
NM_000532.5(PCCB):c.882C>T (p.Pro294=)
|
rs142730126
|
0.00080
|
NM_001130987.2(DYSF):c.4694A>C (p.Lys1565Thr)
|
rs76086153
|
0.00080
|
NM_001692.4(ATP6V1B1):c.264G>A (p.Ala88=)
|
rs147576439
|
0.00080
|
NM_014844.5(TECPR2):c.1605C>T (p.Asn535=)
|
rs145715326
|
0.00080
|
NM_025136.4(OPA3):c.249G>C (p.Leu83=)
|
rs199692583
|
0.00080
|
NM_152419.3(HGSNAT):c.1752C>T (p.Val584=)
|
rs200678234
|
0.00080
|
NM_153676.4(USH1C):c.2443C>T (p.Leu815=)
|
rs148477093
|
0.00080
|
NM_182760.4(SUMF1):c.722A>G (p.Asn241Ser)
|
rs138045351
|
0.00080
|
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val)
|
rs35818432
|
0.00080
|
NM_000016.6(ACADM):c.645T>A (p.Ala215=)
|
rs147395095
|
0.00079
|
NM_000126.4(ETFA):c.533C>G (p.Thr178Arg)
|
rs140169311
|
0.00079
|
NM_003227.4(TFR2):c.225G>A (p.Ala75=)
|
rs148140889
|
0.00079
|
NM_024312.5(GNPTAB):c.3516T>C (p.Tyr1172=)
|
rs201592854
|
0.00079
|
NM_057176.3(BSND):c.63C>T (p.Leu21=)
|
rs141611486
|
0.00079
|
NM_000052.7(ATP7A):c.3475A>G (p.Thr1159Ala)
|
rs138154934
|
0.00078
|
NM_000053.4(ATP7B):c.3405A>G (p.Ala1135=)
|
rs373081328
|
0.00078
|
NM_000203.5(IDUA):c.234C>T (p.Gly78=)
|
rs138932617
|
0.00078
|
NM_000528.4(MAN2B1):c.1230+9G>C
|
rs367590716
|
0.00078
|
NM_001378454.1(ALMS1):c.11765A>G (p.Asn3922Ser)
|
rs199874928
|
0.00078
|
NM_002225.5(IVD):c.228C>T (p.Asn76=)
|
rs140098686
|
0.00078
|
NM_020533.3(MCOLN1):c.1584C>T (p.Gly528=)
|
rs145386883
|
0.00078
|
NM_201253.3(CRB1):c.3992G>A (p.Arg1331His)
|
rs62636285
|
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_001142800.2(EYS):c.1660T>A (p.Cys554Ser)
|
rs145102275
|
0.00077
|
NM_001164508.2(NEB):c.21419T>C (p.Ile7140Thr)
|
rs200112795
|
0.00077
|
NM_004937.3(CTNS):c.461+10del
|
rs377470989
|
0.00077
|
NM_152419.3(HGSNAT):c.342C>T (p.Asn114=)
|
rs184883937
|
0.00077
|
NM_001130987.2(DYSF):c.2034G>A (p.Val678=)
|
rs138111360
|
0.00076
|
NM_001369.3(DNAH5):c.1329G>A (p.Gln443=)
|
rs141621142
|
0.00076
|
NM_003640.5(ELP1):c.1213C>T (p.Arg405Trp)
|
rs139703788
|
0.00076
|
NM_003907.3(EIF2B5):c.320+9C>T
|
rs116835002
|
0.00076
|
NM_014363.6(SACS):c.1374A>G (p.Thr458=)
|
rs149129638
|
0.00076
|
NM_152564.5(VPS13B):c.2596G>A (p.Val866Ile)
|
rs150185067
|
0.00076
|
NM_000023.4(SGCA):c.366G>A (p.Leu122=)
|
rs147739328
|
0.00075
|
NM_000117.3(EMD):c.495G>A (p.Thr165=)
|
rs151074632
|
0.00075
|
NM_001003722.2(GLE1):c.444G>A (p.Arg148=)
|
rs143856051
|
0.00075
|
NM_001130987.2(DYSF):c.6174-9C>T
|
rs201070766
|
0.00075
|
NM_001142800.2(EYS):c.1872G>A (p.Ser624=)
|
rs148411571
|
0.00075
|
NM_001164508.2(NEB):c.7581C>T (p.Tyr2527=)
|
rs200425929
|
0.00075
|
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_001017420.3(ESCO2):c.1013+7A>G
|
rs149494070
|
0.00074
|
NM_001283009.2(RTEL1):c.2940T>C (p.Pro980=)
|
rs141618172
|
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_000274.4(OAT):c.1224T>C (p.His408=)
|
rs201864147
|
0.00073
|
NM_000532.5(PCCB):c.429+7G>A
|
rs201986472
|
0.00073
|
NM_001126108.2(SLC12A3):c.2028C>T (p.His676=)
|
rs35070204
|
0.00073
|
NM_001164277.2(SLC37A4):c.628T>C (p.Ser210Pro)
|
rs201101662
|
0.00073
|
NM_001386140.1(MTTP):c.1985G>C (p.Ser662Thr)
|
rs10011440
|
0.00073
|
NM_003060.4(SLC22A5):c.279G>C (p.Ser93=)
|
rs377734902
|
0.00073
|
NM_003640.5(ELP1):c.3347-15A>G
|
rs200154542
|
0.00073
|
NM_004006.3(DMD):c.1731A>T (p.Glu577Asp)
|
rs150199251
|
0.00073
|
NM_005957.5(MTHFR):c.1625A>C (p.Asn542Thr)
|
rs145641996
|
0.00073
|
NM_152564.5(VPS13B):c.10240T>C (p.Leu3414=)
|
rs145279584
|
0.00073
|
NM_206933.4(USH2A):c.2001C>T (p.His667=)
|
rs142870255
|
0.00073
|
NM_000202.8(IDS):c.884A>G (p.Lys295Arg)
|
rs113993953
|
0.00072
|
NM_000260.4(MYO7A):c.5904C>T (p.His1968=)
|
rs41298753
|
0.00072
|
NM_000528.4(MAN2B1):c.2409C>T (p.Ser803=)
|
rs147850230
|
0.00072
|
NM_001164277.2(SLC37A4):c.785+6A>T
|
rs369358436
|
0.00072
|
NM_001164508.2(NEB):c.22005G>A (p.Thr7335=)
|
rs201400523
|
0.00072
|
NM_152564.5(VPS13B):c.11613C>T (p.Phe3871=)
|
rs139436386
|
0.00072
|
NM_172250.3(MMAA):c.879A>G (p.Gly293=)
|
rs146352309
|
0.00072
|
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu)
|
rs2235006
|
0.00071
|
NM_000289.6(PFKM):c.453G>A (p.Thr151=)
|
rs144370737
|
0.00071
|
NM_000487.6(ARSA):c.564C>T (p.Ser188=)
|
rs113209108
|
0.00071
|
NM_001378454.1(ALMS1):c.4400G>T (p.Gly1467Val)
|
rs78102263
|
0.00071
|
NM_001384474.1(LOXHD1):c.1815C>T (p.Asp605=)
|
rs201388780
|
0.00071
|
NM_001875.5(CPS1):c.1416T>C (p.Asn472=)
|
rs148204462
|
0.00071
|
NM_006019.4(TCIRG1):c.611C>T (p.Pro204Leu)
|
rs373711940
|
0.00071
|
NM_213653.4(HJV):c.510C>T (p.Phe170=)
|
rs139281553
|
0.00071
|
NM_000030.3(AGXT):c.805C>T (p.Leu269=)
|
rs151131723
|
0.00070
|
NM_000246.4(CIITA):c.1740C>G (p.Arg580=)
|
rs78666334
|
0.00070
|
NM_000274.4(OAT):c.48C>T (p.Arg16=)
|
rs143526711
|
0.00070
|
NM_000397.4(CYBB):c.46-7T>C
|
rs182039020
|
0.00070
|
NM_014363.6(SACS):c.10668G>A (p.Leu3556=)
|
rs139517699
|
0.00070
|
NM_020320.5(RARS2):c.456T>C (p.Asn152=)
|
rs141374913
|
0.00070
|
NM_033305.3(VPS13A):c.5281C>T (p.Leu1761=)
|
rs73467955
|
0.00070
|
NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser)
|
rs142248228
|
0.00070
|
NM_206933.4(USH2A):c.5409C>G (p.Val1803=)
|
rs140326085
|
0.00070
|
NM_000441.2(SLC26A4):c.1614C>T (p.Asn538=)
|
rs111033193
|
0.00069
|
NM_000466.3(PEX1):c.3216T>C (p.Ser1072=)
|
rs140963147
|
0.00069
|
NM_001039958.2(MESP2):c.859C>T (p.Pro287Ser)
|
rs201904631
|
0.00069
|
NM_001164508.2(NEB):c.25038A>G (p.Gln8346=)
|
rs184319249
|
0.00069
|
NM_001384474.1(LOXHD1):c.5853G>A (p.Lys1951=)
|
rs201366522
|
0.00069
|
NM_004006.3(DMD):c.4125T>C (p.Thr1375=)
|
rs144329742
|
0.00069
|
NM_022124.6(CDH23):c.6429G>A (p.Thr2143=)
|
rs142788731
|
0.00069
|
NM_152564.5(VPS13B):c.3811A>T (p.Thr1271Ser)
|
rs142674934
|
0.00069
|
NM_000383.4(AIRE):c.1118C>T (p.Ala373Val)
|
rs79212994
|
0.00068
|
NM_018006.5(TRMU):c.900G>T (p.Leu300=)
|
rs113846383
|
0.00068
|
NM_031885.5(BBS2):c.1523A>C (p.Gln508Pro)
|
rs115328064
|
0.00068
|
NM_138413.4(HOGA1):c.708G>T (p.Val236=)
|
rs61731946
|
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_153006.3(NAGS):c.1302C>T (p.Pro434=)
|
rs150004962
|
0.00068
|
NM_206933.4(USH2A):c.5802G>A (p.Ser1934=)
|
rs149776188
|
0.00068
|
NM_000137.4(FAH):c.553+10C>T
|
rs201051426
|
0.00067
|
NM_005055.5(RAPSN):c.1190G>A (p.Arg397Gln)
|
rs139398367
|
0.00067
|
NM_014363.6(SACS):c.2234G>A (p.Arg745His)
|
rs143677534
|
0.00067
|
NM_153717.3(EVC):c.2322G>C (p.Ala774=)
|
rs150373930
|
0.00067
|
NM_000046.5(ARSB):c.1337-3T>A
|
rs183651028
|
0.00066
|
NM_000057.4(BLM):c.2919C>T (p.Tyr973=)
|
rs181161119
|
0.00066
|
NM_000154.2(GALK1):c.746C>T (p.Ala249Val)
|
rs149825190
|
0.00066
|
NM_000199.5(SGSH):c.1428C>T (p.His476=)
|
rs139460639
|
0.00066
|
NM_000237.3(LPL):c.786G>A (p.Gln262=)
|
rs140986245
|
0.00066
|
NM_000383.4(AIRE):c.1383C>T (p.Ala461=)
|
rs147485628
|
0.00066
|
NM_000466.3(PEX1):c.645C>G (p.Thr215=)
|
rs151041559
|
0.00066
|
NM_000487.6(ARSA):c.1251C>T (p.His417=)
|
rs140158705
|
0.00066
|
NM_001378454.1(ALMS1):c.10892G>A (p.Arg3631His)
|
rs142558799
|
0.00066
|
NM_001378454.1(ALMS1):c.3305A>C (p.Lys1102Thr)
|
rs185586839
|
0.00066
|
NM_001378454.1(ALMS1):c.4134T>C (p.Ser1378=)
|
rs200491758
|
0.00066
|
NM_003384.3(VRK1):c.1020C>T (p.Asp340=)
|
rs147853760
|
0.00066
|
NM_004006.3(DMD):c.1812C>T (p.Ala604=)
|
rs140919039
|
0.00066
|
NM_004006.3(DMD):c.4233+2C>T
|
rs147474070
|
0.00066
|
NM_024301.5(FKRP):c.606G>A (p.Leu202=)
|
rs140084192
|
0.00066
|
NM_033380.3(COL4A5):c.834+8C>A
|
rs201717817
|
0.00066
|
NM_152564.5(VPS13B):c.7647C>T (p.Phe2549=)
|
rs112634620
|
0.00066
|
NM_000498.3(CYP11B2):c.414C>T (p.Arg138=)
|
rs369108075
|
0.00065
|
NM_001130987.2(DYSF):c.990C>T (p.Leu330=)
|
rs140809078
|
0.00065
|
NM_001174089.2(SLC4A11):c.1779C>T (p.Ser593=)
|
rs62208067
|
0.00065
|
NM_001875.5(CPS1):c.1714G>A (p.Asp572Asn)
|
rs142916171
|
0.00065
|
NM_005055.5(RAPSN):c.412G>A (p.Val138Ile)
|
rs35810986
|
0.00065
|
NM_000070.3(CAPN3):c.525C>T (p.Asp175=)
|
rs144383442
|
0.00064
|
NM_000154.2(GALK1):c.611+9C>T
|
rs370204015
|
0.00064
|
NM_001142800.2(EYS):c.6855C>T (p.Phe2285=)
|
rs371505812
|
0.00064
|
NM_003907.3(EIF2B5):c.1167G>A (p.Val389=)
|
rs112278360
|
0.00064
|
NM_004006.3(DMD):c.2199C>T (p.Ser733=)
|
rs149882431
|
0.00064
|
NM_000158.4(GBE1):c.350T>C (p.Leu117Pro)
|
rs186942296
|
0.00063
|
NM_000202.8(IDS):c.396G>A (p.Ser132=)
|
rs147108245
|
0.00063
|
NM_000243.3(MEFV):c.932C>T (p.Ala311Val)
|
rs74346519
|
0.00063
|
NM_004006.3(DMD):c.8308G>A (p.Asp2770Asn)
|
rs138399787
|
0.00063
|
NM_014140.4(SMARCAL1):c.863-9C>G
|
rs188833040
|
0.00063
|
NM_015272.5(RPGRIP1L):c.3624C>T (p.Tyr1208=)
|
rs138724933
|
0.00063
|
NM_022124.6(CDH23):c.6918G>A (p.Leu2306=)
|
rs146819206
|
0.00063
|
NM_000203.5(IDUA):c.11T>C (p.Leu4Pro)
|
rs180984980
|
0.00062
|
NM_000271.5(NPC1):c.1561G>T (p.Ala521Ser)
|
rs138184115
|
0.00062
|
NM_001283009.2(RTEL1):c.2824G>A (p.Asp942Asn)
|
rs116247954
|
0.00062
|
NM_001283009.2(RTEL1):c.3054C>G (p.Pro1018=)
|
rs147894642
|
0.00062
|
NM_002454.3(MTRR):c.54C>T (p.Ile18=)
|
rs6413426
|
0.00062
|
NM_002485.5(NBN):c.441C>T (p.Cys147=)
|
rs137857529
|
0.00062
|
NM_003227.4(TFR2):c.767T>G (p.Leu256Arg)
|
rs200287731
|
0.00062
|
NM_003907.3(EIF2B5):c.1608G>C (p.Glu536Asp)
|
rs111933069
|
0.00062
|
NM_004006.3(DMD):c.1028G>A (p.Arg343His)
|
rs61733589
|
0.00062
|
NM_005609.4(PYGM):c.1083C>T (p.Asp361=)
|
rs141959242
|
0.00062
|
NM_000033.4(ABCD1):c.258C>T (p.Val86=)
|
rs200660869
|
0.00061
|
NM_000046.5(ARSB):c.570A>G (p.Thr190=)
|
rs148138805
|
0.00061
|
NM_000094.4(COL7A1):c.5217T>A (p.Pro1739=)
|
rs147611409
|
0.00061
|
NM_001126108.2(SLC12A3):c.36C>T (p.Asp12=)
|
rs117987946
|
0.00061
|
NM_014049.5(ACAD9):c.1022T>C (p.Leu341Ser)
|
rs141874052
|
0.00061
|
NM_014049.5(ACAD9):c.432G>A (p.Ala144=)
|
rs140225132
|
0.00061
|
NM_014244.5(ADAMTS2):c.1164G>A (p.Pro388=)
|
rs141348218
|
0.00061
|
NM_014844.5(TECPR2):c.606T>C (p.Ser202=)
|
rs140791062
|
0.00061
|
NM_014844.5(TECPR2):c.754C>A (p.Gln252Lys)
|
rs147010113
|
0.00061
|
NM_032520.5(GNPTG):c.183C>T (p.Pro61=)
|
rs140264422
|
0.00061
|
NM_033305.3(VPS13A):c.2201G>A (p.Ser734Asn)
|
rs117320408
|
0.00061
|
NM_152564.5(VPS13B):c.11852T>C (p.Ile3951Thr)
|
rs73273219
|
0.00061
|
NM_000033.4(ABCD1):c.757C>G (p.Leu253Val)
|
rs150151955
|
0.00060
|
NM_000199.5(SGSH):c.324G>A (p.Pro108=)
|
rs147938702
|
0.00060
|
NM_000282.4(PCCA):c.870C>T (p.Cys290=)
|
rs141174380
|
0.00060
|
NM_032520.5(GNPTG):c.684C>G (p.Thr228=)
|
rs150965148
|
0.00060
|
NM_000206.3(IL2RG):c.325G>A (p.Glu109Lys)
|
rs17875899
|
0.00059
|
NM_000237.3(LPL):c.542-8C>T
|
rs201634558
|
0.00059
|
NM_000329.3(RPE65):c.48T>C (p.Phe16=)
|
rs62642581
|
0.00059
|
NM_000359.3(TGM1):c.696G>A (p.Glu232=)
|
rs149605227
|
0.00059
|
NM_001673.5(ASNS):c.1164G>A (p.Glu388=)
|
rs200290689
|
0.00059
|
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp)
|
rs111033222
|
0.00059
|
NM_014140.4(SMARCAL1):c.124A>G (p.Ile42Val)
|
rs199905841
|
0.00059
|
NM_000022.4(ADA):c.606+10G>A
|
rs201045221
|
0.00058
|
NM_000033.4(ABCD1):c.1818G>A (p.Ser606=)
|
rs140263823
|
0.00058
|
NM_000035.4(ALDOB):c.525C>T (p.Ala175=)
|
rs144196914
|
0.00058
|
NM_000091.5(COL4A3):c.4494C>G (p.Thr1498=)
|
rs200454769
|
0.00058
|
NM_000154.2(GALK1):c.432C>T (p.Ser144=)
|
rs150323432
|
0.00058
|
NM_000182.5(HADHA):c.1212G>C (p.Val404=)
|
rs116396996
|
0.00058
|
NM_000382.3(ALDH3A2):c.1398C>T (p.Leu466=)
|
rs150927045
|
0.00058
|
NM_001033855.3(DCLRE1C):c.1602C>T (p.Ser534=)
|
rs61745540
|
0.00058
|
NM_001692.4(ATP6V1B1):c.1023C>T (p.Ser341=)
|
rs117826071
|
0.00058
|
NM_002617.4(PEX10):c.896C>T (p.Ala299Val)
|
rs78620392
|
0.00058
|
NM_020166.5(MCCC1):c.254A>C (p.Asn85Thr)
|
rs148616219
|
0.00058
|
NM_206933.4(USH2A):c.10769C>T (p.Pro3590Leu)
|
rs115403785
|
0.00058
|
NM_000092.5(COL4A4):c.4185G>A (p.Gly1395=)
|
rs55978207
|
0.00057
|
NM_000157.4(GBA1):c.474C>T (p.Ile158=)
|
rs147411159
|
0.00057
|
NM_000466.3(PEX1):c.1085C>T (p.Ser362Leu)
|
rs138758170
|
0.00057
|
NM_001130987.2(DYSF):c.4993G>A (p.Val1665Ile)
|
rs147056383
|
0.00057
|
NM_024301.5(FKRP):c.531G>A (p.Glu177=)
|
rs768007208
|
0.00057
|
NM_025215.6(PUS1):c.1047C>T (p.Asn349=)
|
rs145061048
|
0.00057
|
NM_033305.3(VPS13A):c.9274C>T (p.Arg3092Cys)
|
rs146574121
|
0.00057
|
NM_138694.4(PKHD1):c.11800G>A (p.Val3934Ile)
|
rs149111536
|
0.00057
|
NR_003051.3(RMRP):n.-7A>G
|
rs111909453
|
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_000092.5(COL4A4):c.1812T>C (p.His604=)
|
rs371381056
|
0.00056
|
NM_000136.3(FANCC):c.1329+111C>T
|
rs527823099
|
0.00056
|
NM_000152.5(GAA):c.1438-9G>A
|
rs202211401
|
0.00056
|
NM_000246.4(CIITA):c.2322C>T (p.Leu774=)
|
rs77072504
|
0.00056
|
NM_000360.4(TH):c.1398C>T (p.Ile466=)
|
rs118175546
|
0.00056
|
NM_000492.4(CFTR):c.2245C>T (p.Leu749=)
|
rs151235408
|
0.00056
|
NM_000528.4(MAN2B1):c.2625C>T (p.Gly875=)
|
rs368834616
|
0.00056
|
NM_003907.3(EIF2B5):c.1956C>T (p.Phe652=)
|
rs149264256
|
0.00056
|
NM_004006.3(DMD):c.8436T>C (p.Leu2812=)
|
rs139365076
|
0.00056
|
NM_005373.3(MPL):c.1488C>T (p.Thr496=)
|
rs140091584
|
0.00056
|
NM_014363.6(SACS):c.7165G>A (p.Val2389Met)
|
rs142869943
|
0.00056
|
NM_015166.4(MLC1):c.1053T>C (p.Ala351=)
|
rs11568190
|
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_003982.4(SLC7A7):c.234C>T (p.Val78=)
|
rs139776370
|
0.00055
|
NM_004006.3(DMD):c.5487A>G (p.Gln1829=)
|
rs150787752
|
0.00055
|
NM_005373.3(MPL):c.1570C>T (p.Leu524=)
|
rs146372205
|
0.00055
|
NM_000195.5(HPS1):c.1438G>A (p.Ala480Thr)
|
rs17109853
|
0.00054
|
NM_000360.4(TH):c.897C>T (p.Phe299=)
|
rs76719766
|
0.00054
|
NM_001360.3(DHCR7):c.1368C>T (p.Gly456=)
|
rs144562471
|
0.00054
|
NM_001875.5(CPS1):c.195C>T (p.Ser65=)
|
rs192759073
|
0.00054
|
NM_001876.4(CPT1A):c.2142+8C>T
|
rs147563740
|
0.00054
|
NM_002485.5(NBN):c.896+4T>C
|
rs190843577
|
0.00054
|
NM_004006.3(DMD):c.3020C>T (p.Ser1007Leu)
|
rs144732570
|
0.00054
|
NM_004006.3(DMD):c.5203C>T (p.Arg1735Cys)
|
rs147904018
|
0.00054
|
NM_014244.5(ADAMTS2):c.2272G>A (p.Ala758Thr)
|
rs146222244
|
0.00054
|
NM_015627.3(LDLRAP1):c.396C>T (p.Ile132=)
|
rs369497122
|
0.00054
|
NM_019098.5(CNGB3):c.1368C>T (p.Arg456=)
|
rs141934736
|
0.00054
|
NM_206933.4(USH2A):c.13343A>G (p.Asp4448Gly)
|
rs150532013
|
0.00054
|
NM_206933.4(USH2A):c.8320G>A (p.Ala2774Thr)
|
rs111033533
|
0.00054
|
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys)
|
rs34640941
|
0.00053
|
NM_000135.4(FANCA):c.3183C>T (p.Ser1061=)
|
rs1800346
|
0.00053
|
NM_000390.4(CHM):c.1244+8T>A
|
rs369829791
|
0.00053
|
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg)
|
rs147509697
|
0.00053
|
NM_000642.3(AGL):c.1759C>T (p.His587Tyr)
|
rs139488862
|
0.00053
|
NM_000784.4(CYP27A1):c.276C>T (p.Tyr92=)
|
rs141519183
|
0.00053
|
NM_001164277.2(SLC37A4):c.663G>A (p.Leu221=)
|
rs150083315
|
0.00053
|
NM_001378454.1(ALMS1):c.9712C>T (p.Arg3238Cys)
|
rs201252375
|
0.00053
|
NM_001876.4(CPT1A):c.2100G>A (p.Glu700=)
|
rs188173541
|
0.00053
|
NM_014244.5(ADAMTS2):c.984C>T (p.Ser328=)
|
rs149253571
|
0.00053
|
NM_022124.6(CDH23):c.1446C>A (p.Val482=)
|
rs200324241
|
0.00053
|
NM_022124.6(CDH23):c.9942G>A (p.Thr3314=)
|
rs376804660
|
0.00053
|
NM_000094.4(COL7A1):c.810G>A (p.Thr270=)
|
rs138770708
|
0.00052
|
NM_000359.3(TGM1):c.270T>A (p.Pro90=)
|
rs201400055
|
0.00052
|
NM_000478.6(ALPL):c.468C>T (p.Asp156=)
|
rs143621566
|
0.00052
|
NM_000527.5(LDLR):c.1167G>A (p.Thr389=)
|
rs139066906
|
0.00052
|
NM_001164508.2(NEB):c.984C>T (p.Thr328=)
|
rs199969138
|
0.00052
|
NM_001875.5(CPS1):c.948-6C>T
|
rs112199960
|
0.00052
|
NM_003742.4(ABCB11):c.167C>T (p.Ser56Leu)
|
rs11568361
|
0.00052
|
NM_017777.4(MKS1):c.874A>G (p.Lys292Glu)
|
rs201845569
|
0.00052
|
NM_133259.4(LRPPRC):c.2118A>G (p.Glu706=)
|
rs118188415
|
0.00052
|
NM_000018.4(ACADVL):c.1473A>G (p.Leu491=)
|
rs150518187
|
0.00051
|
NM_000057.4(BLM):c.465T>C (p.Asp155=)
|
rs185349681
|
0.00051
|
NM_000642.3(AGL):c.1908A>G (p.Ser636=)
|
rs144723143
|
0.00051
|
NM_001142800.2(EYS):c.-207A>G
|
rs370140172
|
0.00051
|
NM_001378454.1(ALMS1):c.10774A>G (p.Thr3592Ala)
|
rs200467041
|
0.00051
|
NM_001384474.1(LOXHD1):c.1716C>T (p.Asn572=)
|
rs147582935
|
0.00051
|
NM_003640.5(ELP1):c.-22G>T
|
rs150608921
|
0.00051
|
NM_022124.6(CDH23):c.67+8C>T
|
rs186548927
|
0.00051
|
NM_182894.3(VSX2):c.939T>A (p.Ala313=)
|
rs372651860
|
0.00051
|
NM_206933.4(USH2A):c.7068T>G (p.Asn2356Lys)
|
rs200038092
|
0.00051
|
NM_000246.4(CIITA):c.931A>G (p.Met311Val)
|
rs140139362
|
0.00050
|
NM_000329.3(RPE65):c.117C>T (p.Thr39=)
|
rs143929144
|
0.00050
|
NM_000382.3(ALDH3A2):c.564G>A (p.Ala188=)
|
rs61757681
|
0.00050
|
NM_000489.6(ATRX):c.1423C>G (p.His475Asp)
|
rs146863015
|
0.00050
|
NM_001122769.3(LCA5):c.1215T>G (p.Val405=)
|
rs41270545
|
0.00050
|
NM_032520.5(GNPTG):c.477C>T (p.Tyr159=)
|
rs201168011
|
0.00050
|
NM_000023.4(SGCA):c.690G>C (p.Leu230=)
|
rs139454982
|
0.00049
|
NM_000170.3(GLDC):c.2328C>T (p.Leu776=)
|
rs149600380
|
0.00049
|
NM_000231.3(SGCG):c.832G>A (p.Gly278Ser)
|
rs147820869
|
0.00049
|
NM_000489.6(ATRX):c.2923G>A (p.Asp975Asn)
|
rs200709847
|
0.00049
|
NM_001130987.2(DYSF):c.3779G>A (p.Arg1260His)
|
rs2303603
|
0.00049
|
NM_017739.4(POMGNT1):c.421-7C>A
|
rs189274856
|
0.00049
|
NM_031885.5(BBS2):c.472-10T>C
|
rs138714256
|
0.00049
|
NM_152564.5(VPS13B):c.1981G>A (p.Asp661Asn)
|
rs149334616
|
0.00049
|
NM_201253.3(CRB1):c.614T>C (p.Ile205Thr)
|
rs62645749
|
0.00049
|
NM_000049.4(ASPA):c.279T>C (p.Ala93=)
|
rs144639820
|
0.00048
|
NM_000092.5(COL4A4):c.2241C>T (p.Pro747=)
|
rs374510402
|
0.00048
|
NM_000246.4(CIITA):c.2651G>A (p.Arg884His)
|
rs374443915
|
0.00048
|
NM_000263.4(NAGLU):c.2157G>A (p.Pro719=)
|
rs114687267
|
0.00048
|
NM_001130987.2(DYSF):c.4560C>T (p.Phe1520=)
|
rs544993852
|
0.00048
|
NM_001174089.2(SLC4A11):c.903G>A (p.Thr301=)
|
rs193080010
|
0.00048
|
NM_001365088.1(SLC12A6):c.2613C>T (p.Arg871=)
|
rs144297460
|
0.00048
|
NM_001378454.1(ALMS1):c.11353A>G (p.Ile3785Val)
|
rs201819880
|
0.00048
|
NM_004006.3(DMD):c.2381-3T>C
|
rs147931243
|
0.00048
|
NM_014049.5(ACAD9):c.195T>C (p.Asn65=)
|
rs144978857
|
0.00048
|
NM_018006.5(TRMU):c.772+8G>A
|
rs201372242
|
0.00048
|
NM_025216.3(WNT10A):c.745G>A (p.Val249Ile)
|
rs770985751
|
0.00048
|
NM_138694.4(PKHD1):c.9363T>C (p.Asn3121=)
|
rs183674012
|
0.00048
|
NM_152564.5(VPS13B):c.6645A>C (p.Gly2215=)
|
rs147817990
|
0.00048
|
NM_000033.4(ABCD1):c.41C>G (p.Thr14Arg)
|
rs782161942
|
0.00047
|
NM_000143.4(FH):c.1299C>T (p.Asn433=)
|
rs201994824
|
0.00047
|
NM_000170.3(GLDC):c.1155+91C>T
|
rs779753406
|
0.00047
|
NM_000198.4(HSD3B2):c.960A>C (p.Thr320=)
|
rs34412477
|
0.00047
|
NM_001164508.2(NEB):c.4198G>A (p.Ala1400Thr)
|
rs113174390
|
0.00047
|
NM_033380.3(COL4A5):c.1187C>T (p.Pro396Leu)
|
rs113013606
|
0.00047
|
NM_152618.3(BBS12):c.1979C>T (p.Pro660Leu)
|
rs147281546
|
0.00047
|
NM_152618.3(BBS12):c.978T>A (p.Thr326=)
|
rs115635198
|
0.00047
|
NM_000080.4(CHRNE):c.901G>A (p.Val301Met)
|
rs140023380
|
0.00046
|
NM_000094.4(COL7A1):c.5769G>A (p.Glu1923=)
|
rs143843471
|
0.00046
|
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_000158.4(GBE1):c.1713C>T (p.Asp571=)
|
rs373148836
|
0.00046
|
NM_000289.6(PFKM):c.495T>A (p.Ile165=)
|
rs148858610
|
0.00046
|
NM_000489.6(ATRX):c.4120+4A>C
|
rs200420513
|
0.00046
|
NM_000492.4(CFTR):c.274-6T>C
|
rs371315549
|
0.00046
|
NM_001283009.2(RTEL1):c.1371C>T (p.Cys457=)
|
rs138399496
|
0.00046
|
NM_001369.3(DNAH5):c.8268A>C (p.Ser2756=)
|
rs775185371
|
0.00046
|
NM_001369.3(DNAH5):c.8960A>T (p.Asn2987Ile)
|
rs149489069
|
0.00046
|
NM_004006.3(DMD):c.2457A>C (p.Leu819=)
|
rs72468680
|
0.00046
|
NM_006019.4(TCIRG1):c.476G>A (p.Gly159Glu)
|
rs199632510
|
0.00046
|
NM_020320.5(RARS2):c.78A>C (p.Thr26=)
|
rs138360045
|
0.00046
|
NM_025114.4(CEP290):c.2595C>T (p.Leu865=)
|
rs114632733
|
0.00046
|
NM_033305.3(VPS13A):c.7920A>G (p.Gln2640=)
|
rs200387635
|
0.00046
|
NM_153676.4(USH1C):c.2265C>T (p.Leu755=)
|
rs151251262
|
0.00046
|
NM_000057.4(BLM):c.645C>T (p.Ser215=)
|
rs56218710
|
0.00045
|
NM_000170.3(GLDC):c.45G>A (p.Gly15=)
|
rs577986419
|
0.00045
|
NM_000518.5(HBB):c.316-125A>G
|
rs63751175
|
0.00045
|
NM_001283009.2(RTEL1):c.2706C>T (p.Ala902=)
|
rs116788553
|
0.00045
|
NM_004006.3(DMD):c.7243C>T (p.Arg2415Cys)
|
rs139395045
|
0.00045
|
NM_004035.7(ACOX1):c.1344G>A (p.Val448=)
|
rs753969664
|
0.00045
|
NM_005726.6(TSFM):c.539G>C (p.Gly180Ala)
|
rs138534976
|
0.00045
|
NM_015506.3(MMACHC):c.277-4C>G
|
rs199889403
|
0.00045
|
NM_031885.5(BBS2):c.525A>G (p.Gly175=)
|
rs34191306
|
0.00045
|
NM_001130987.2(DYSF):c.6174G>A (p.Arg2058=)
|
rs143762717
|
0.00044
|
NM_004006.3(DMD):c.5586+9G>A
|
rs200025478
|
0.00044
|
NM_032520.5(GNPTG):c.702T>C (p.Pro234=)
|
rs532275192
|
0.00044
|
NM_138413.4(HOGA1):c.237C>T (p.Gly79=)
|
rs148094180
|
0.00044
|
NM_138694.4(PKHD1):c.7067C>T (p.Pro2356Leu)
|
rs141360909
|
0.00044
|
NM_000030.3(AGXT):c.35A>G (p.Lys12Arg)
|
rs142969817
|
0.00043
|
NM_000057.4(BLM):c.3798T>G (p.Val1266=)
|
rs138831180
|
0.00043
|
NM_000094.4(COL7A1):c.4046C>T (p.Pro1349Leu)
|
rs184756277
|
0.00043
|
NM_000169.3(GLA):c.376A>G (p.Ser126Gly)
|
rs149391489
|
0.00043
|
NM_000195.5(HPS1):c.926A>G (p.Asp309Gly)
|
rs141366997
|
0.00043
|
NM_000492.4(CFTR):c.958T>G (p.Leu320Val)
|
rs144476686
|
0.00043
|
NM_001130987.2(DYSF):c.4355C>T (p.Ser1452Leu)
|
rs139411595
|
0.00043
|
NM_001130987.2(DYSF):c.978A>T (p.Thr326=)
|
rs112007817
|
0.00043
|
NM_001243279.3(ACSF3):c.855G>A (p.Pro285=)
|
rs780294227
|
0.00043
|
NM_003640.5(ELP1):c.948G>A (p.Pro316=)
|
rs148917889
|
0.00043
|
NM_004006.3(DMD):c.6732G>C (p.Gln2244His)
|
rs142531761
|
0.00043
|
NM_014363.6(SACS):c.2497G>A (p.Glu833Lys)
|
rs143433500
|
0.00043
|
NM_014363.6(SACS):c.3637T>C (p.Leu1213=)
|
rs577638741
|
0.00043
|
NM_019098.5(CNGB3):c.2130G>A (p.Glu710=)
|
rs149271453
|
0.00043
|
NM_020533.3(MCOLN1):c.36C>T (p.Thr12=)
|
rs148187755
|
0.00043
|
NM_000133.4(F9):c.8G>A (p.Arg3His)
|
rs148060786
|
0.00042
|
NM_000153.4(GALC):c.1434G>A (p.Pro478=)
|
rs200231860
|
0.00042
|
NM_000260.4(MYO7A):c.186G>A (p.Thr62=)
|
rs368267301
|
0.00042
|
NM_000360.4(TH):c.363G>A (p.Pro121=)
|
rs370429316
|
0.00042
|
NM_001122769.3(LCA5):c.1642C>T (p.Pro548Ser)
|
rs185347145
|
0.00042
|
NM_001173990.3(TMEM216):c.289T>A (p.Phe97Ile)
|
rs201614099
|
0.00042
|
NM_004006.3(DMD):c.2824A>G (p.Met942Val)
|
rs371648742
|
0.00042
|
NM_004646.4(NPHS1):c.1620G>C (p.Ala540=)
|
rs375861433
|
0.00042
|
NM_004646.4(NPHS1):c.699C>T (p.Thr233=)
|
rs144398621
|
0.00042
|
NM_005629.4(SLC6A8):c.1626C>T (p.Tyr542=)
|
rs140601882
|
0.00042
|
NM_014049.5(ACAD9):c.510G>A (p.Ala170=)
|
rs187374592
|
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_000018.4(ACADVL):c.1077+15C>T
|
rs202237278
|
0.00041
|
NM_000022.4(ADA):c.660G>A (p.Ser220=)
|
rs147038410
|
0.00041
|
NM_000033.4(ABCD1):c.1899C>T (p.Ser633=)
|
rs202125585
|
0.00041
|
NM_000094.4(COL7A1):c.2544C>T (p.Val848=)
|
rs139545952
|
0.00041
|
NM_000137.4(FAH):c.243G>A (p.Ala81=)
|
rs36122289
|
0.00041
|
NM_000137.4(FAH):c.706+9T>C
|
rs368042270
|
0.00041
|
NM_000198.4(HSD3B2):c.1062G>A (p.Glu354=)
|
rs114064941
|
0.00041
|
NM_000263.4(NAGLU):c.1119G>T (p.Val373=)
|
rs371656965
|
0.00041
|
NM_000383.4(AIRE):c.1437G>A (p.Val479=)
|
rs181029582
|
0.00041
|
NM_000396.4(CTSK):c.684C>T (p.Pro228=)
|
rs142097792
|
0.00041
|
NM_001164508.2(NEB):c.5031+4T>C
|
rs370999716
|
0.00041
|
NM_001384474.1(LOXHD1):c.2352C>T (p.Pro784=)
|
rs111493023
|
0.00041
|
NM_001384474.1(LOXHD1):c.5691G>C (p.Leu1897=)
|
rs527820569
|
0.00041
|
NM_001953.5(TYMP):c.1189C>T (p.Leu397=)
|
rs777564992
|
0.00041
|
NM_012434.5(SLC17A5):c.957C>A (p.Ile319=)
|
rs147732875
|
0.00041
|
NM_014049.5(ACAD9):c.152A>T (p.Lys51Ile)
|
rs149931573
|
0.00041
|
NM_133259.4(LRPPRC):c.4078G>A (p.Ala1360Thr)
|
rs147302249
|
0.00041
|
NM_138694.4(PKHD1):c.6774A>C (p.Val2258=)
|
rs34796823
|
0.00041
|
NM_000094.4(COL7A1):c.2449A>G (p.Met817Val)
|
rs147017402
|
0.00040
|
NM_000359.3(TGM1):c.2160C>T (p.Thr720=)
|
rs139387079
|
0.00040
|
NM_000359.3(TGM1):c.660T>C (p.Phe220=)
|
rs201493499
|
0.00040
|
NM_000487.6(ARSA):c.40G>A (p.Ala14Thr)
|
rs145157196
|
0.00040
|
NM_001875.5(CPS1):c.4089G>T (p.Leu1363=)
|
rs368890059
|
0.00040
|
NM_002617.4(PEX10):c.816G>T (p.Leu272=)
|
rs144440263
|
0.00040
|
NM_003742.4(ABCB11):c.2886A>G (p.Ala962=)
|
rs201087979
|
0.00040
|
NM_004006.3(DMD):c.2490C>T (p.Asn830=)
|
rs72468679
|
0.00040
|
NM_006019.4(TCIRG1):c.1296G>A (p.Ala432=)
|
rs200900947
|
0.00040
|
NM_130849.4(SLC39A4):c.744C>T (p.Ala248=)
|
rs201676788
|
0.00040
|
NM_000070.3(CAPN3):c.1643G>A (p.Arg548His)
|
rs146309264
|
0.00039
|
NM_000094.4(COL7A1):c.2106C>T (p.Val702=)
|
rs75551775
|
0.00039
|
NM_000108.5(DLD):c.55C>G (p.Arg19Gly)
|
rs144038427
|
0.00039
|
NM_000206.3(IL2RG):c.282G>A (p.Ser94=)
|
rs142807857
|
0.00039
|
NM_000232.5(SGCB):c.768C>T (p.Ile256=)
|
rs149121189
|
0.00039
|
NM_001142800.2(EYS):c.1638C>T (p.Asp546=)
|
rs373584729
|
0.00039
|
NM_001164508.2(NEB):c.8801G>A (p.Arg2934His)
|
rs200307392
|
0.00039
|
NM_001174089.2(SLC4A11):c.765G>A (p.Thr255=)
|
rs78860240
|
0.00039
|
NM_001384140.1(PCDH15):c.2884C>T (p.Arg962Cys)
|
rs201816080
|
0.00039
|
NM_001384140.1(PCDH15):c.3451G>A (p.Gly1151Arg)
|
rs149478475
|
0.00039
|
NM_001876.4(CPT1A):c.336C>T (p.Thr112=)
|
rs61731902
|
0.00039
|
NM_003742.4(ABCB11):c.1605C>T (p.Ala535=)
|
rs144848376
|
0.00039
|
NM_004006.3(DMD):c.6828C>T (p.Pro2276=)
|
rs72466595
|
0.00039
|
NM_014140.4(SMARCAL1):c.2765T>C (p.Met922Thr)
|
rs200431186
|
0.00039
|
NM_024685.4(BBS10):c.957T>C (p.Val319=)
|
rs139645096
|
0.00039
|
NM_033305.3(VPS13A):c.8668-10G>C
|
rs371453974
|
0.00039
|
NM_138694.4(PKHD1):c.4450G>A (p.Ala1484Thr)
|
rs144905283
|
0.00039
|
NM_000023.4(SGCA):c.1047C>T (p.Ala349=)
|
rs199518562
|
0.00038
|
NM_000051.4(ATM):c.6795C>T (p.Phe2265=)
|
rs3218699
|
0.00038
|
NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg)
|
rs55801750
|
0.00038
|
NM_000057.4(BLM):c.816G>A (p.Lys272=)
|
rs139295905
|
0.00038
|
NM_000152.5(GAA):c.257C>G (p.Pro86Arg)
|
rs2229222
|
0.00038
|
NM_000274.4(OAT):c.900+9C>A
|
rs372834151
|
0.00038
|
NM_000492.4(CFTR):c.3080T>C (p.Ile1027Thr)
|
rs1800112
|
0.00038
|
NM_000520.6(HEXA):c.1435G>A (p.Ala479Thr)
|
rs145012038
|
0.00038
|
NM_000709.4(BCKDHA):c.63C>T (p.Ala21=)
|
rs140322984
|
0.00038
|
NM_001033855.3(DCLRE1C):c.1623A>C (p.Thr541=)
|
rs41300674
|
0.00038
|
NM_001126108.2(SLC12A3):c.1698C>A (p.Asn566Lys)
|
rs757776621
|
0.00038
|
NM_003640.5(ELP1):c.1911T>C (p.Val637=)
|
rs369645371
|
0.00038
|
NM_003640.5(ELP1):c.909C>G (p.Val303=)
|
rs142420285
|
0.00038
|
NM_004006.3(DMD):c.5181A>T (p.Ile1727=)
|
rs200887855
|
0.00038
|
NM_012203.2(GRHPR):c.666C>T (p.Thr222=)
|
rs146227450
|
0.00038
|
NM_012243.3(SLC35A3):c.63T>G (p.Val21=)
|
rs141542767
|
0.00038
|
NM_015506.3(MMACHC):c.691T>C (p.Leu231=)
|
rs373198842
|
0.00038
|
NM_025215.6(PUS1):c.987C>T (p.Pro329=)
|
rs150880557
|
0.00038
|
NM_033380.3(COL4A5):c.2768-10T>C
|
rs370284884
|
0.00038
|
NM_138694.4(PKHD1):c.9402G>A (p.Lys3134=)
|
rs143737660
|
0.00038
|
NM_152419.3(HGSNAT):c.1623G>A (p.Ser541=)
|
rs372909374
|
0.00038
|
NM_182894.3(VSX2):c.171C>G (p.Ala57=)
|
rs201395979
|
0.00038
|
NM_000033.4(ABCD1):c.945G>A (p.Ser315=)
|
rs145545199
|
0.00037
|
NM_000154.2(GALK1):c.747G>A (p.Ala249=)
|
rs140053358
|
0.00037
|
NM_000536.4(RAG2):c.477C>T (p.Arg159=)
|
rs141659100
|
0.00037
|
NM_000784.4(CYP27A1):c.1419C>T (p.Val473=)
|
rs138596741
|
0.00037
|
NM_001130987.2(DYSF):c.4542C>T (p.Ile1514=)
|
rs148055736
|
0.00037
|
NM_001378454.1(ALMS1):c.3375A>G (p.Val1125=)
|
rs189914793
|
0.00037
|
NM_014140.4(SMARCAL1):c.2641A>C (p.Lys881Gln)
|
rs190386780
|
0.00037
|
NM_020166.5(MCCC1):c.2034C>T (p.Ile678=)
|
rs150305281
|
0.00037
|
NM_152443.3(RDH12):c.579C>T (p.Arg193=)
|
rs142117351
|
0.00037
|
NM_000070.3(CAPN3):c.2409A>G (p.Gly803=)
|
rs143139259
|
0.00036
|
NM_000094.4(COL7A1):c.4992A>C (p.Gly1664=)
|
rs139988431
|
0.00036
|
NM_000136.3(FANCC):c.457-18A>G
|
rs377206543
|
0.00036
|
NM_000152.5(GAA):c.2652G>A (p.Thr884=)
|
rs143642048
|
0.00036
|
NM_000198.4(HSD3B2):c.613C>T (p.Leu205=)
|
rs138811555
|
0.00036
|
NM_000202.8(IDS):c.666C>T (p.Ala222=)
|
rs201588028
|
0.00036
|
NM_000492.4(CFTR):c.1920T>C (p.Phe640=)
|
rs145877746
|
0.00036
|
NM_001017420.3(ESCO2):c.1548G>A (p.Thr516=)
|
rs149917909
|
0.00036
|
NM_001142800.2(EYS):c.3586T>C (p.Cys1196Arg)
|
rs374409854
|
0.00036
|
NM_001164508.2(NEB):c.12688A>G (p.Ile4230Val)
|
rs532986882
|
0.00036
|
NM_001378454.1(ALMS1):c.4329G>T (p.Leu1443Phe)
|
rs192499639
|
0.00036
|
NM_002778.4(PSAP):c.578A>G (p.Asp193Gly)
|
rs138636858
|
0.00036
|
NM_003640.5(ELP1):c.2436C>T (p.Asp812=)
|
rs113967847
|
0.00036
|
NM_004006.3(DMD):c.1934A>G (p.Asp645Gly)
|
rs147822019
|
0.00036
|
NM_004006.3(DMD):c.6320G>A (p.Arg2107Gln)
|
rs142807436
|
0.00036
|
NM_014249.4(NR2E3):c.747+9C>T
|
rs375935703
|
0.00036
|
NM_019098.5(CNGB3):c.1815T>G (p.Thr605=)
|
rs143131185
|
0.00036
|
NM_023036.6(DNAI2):c.1574C>T (p.Ala525Val)
|
rs145602856
|
0.00036
|
NM_024996.7(GFM1):c.1032C>T (p.Asn344=)
|
rs373952002
|
0.00036
|
NM_032383.5(HPS3):c.158A>G (p.Gln53Arg)
|
rs199663930
|
0.00036
|
NM_033305.3(VPS13A):c.4590T>G (p.Ala1530=)
|
rs141940484
|
0.00036
|
NM_130849.4(SLC39A4):c.1002G>A (p.Thr334=)
|
rs149524471
|
0.00036
|
NM_138694.4(PKHD1):c.333C>T (p.Phe111=)
|
rs145815264
|
0.00036
|
NM_206933.4(USH2A):c.5751C>T (p.Tyr1917=)
|
rs145742052
|
0.00036
|
NM_000092.5(COL4A4):c.2877C>T (p.Pro959=)
|
rs79470996
|
0.00035
|
NM_000098.3(CPT2):c.588T>C (p.Pro196=)
|
rs140853350
|
0.00035
|
NM_000198.4(HSD3B2):c.222C>T (p.Asp74=)
|
rs150892928
|
0.00035
|
NM_000243.3(MEFV):c.1260+10C>T
|
rs104895137
|
0.00035
|
NM_000243.3(MEFV):c.372C>T (p.Pro124=)
|
rs104895078
|
0.00035
|
NM_000246.4(CIITA):c.456G>A (p.Pro152=)
|
rs151317882
|
0.00035
|
NM_000303.3(PMM2):c.713G>A (p.Arg238His)
|
rs151319324
|
0.00035
|
NM_000521.4(HEXB):c.1248G>A (p.Ala416=)
|
rs137915238
|
0.00035
|
NM_001174089.2(SLC4A11):c.78C>T (p.Phe26=)
|
rs35732230
|
0.00035
|
NM_001283009.2(RTEL1):c.1833C>T (p.Ala611=)
|
rs116502880
|
0.00035
|
NM_001283009.2(RTEL1):c.2851+8G>C
|
rs376962635
|
0.00035
|
NM_001384140.1(PCDH15):c.4320G>A (p.Pro1440=)
|
rs12246234
|
0.00035
|
NM_002617.4(PEX10):c.765G>A (p.Leu255=)
|
rs140133667
|
0.00035
|
NM_003907.3(EIF2B5):c.966C>G (p.Thr322=)
|
rs145535476
|
0.00035
|
NM_003982.4(SLC7A7):c.543C>G (p.Thr181=)
|
rs145777568
|
0.00035
|
NM_004006.3(DMD):c.9564-5A>G
|
rs201390145
|
0.00035
|
NM_006118.4(HAX1):c.117_122dup (p.Glu40_Gly41dup)
|
rs781468690
|
0.00035
|
NM_014844.5(TECPR2):c.2847G>A (p.Ala949=)
|
rs145452704
|
0.00035
|
NM_138694.4(PKHD1):c.325G>A (p.Ala109Thr)
|
rs143979330
|
0.00035
|
NM_172250.3(MMAA):c.57A>G (p.Ala19=)
|
rs143211378
|
0.00035
|
NM_178138.6(LHX3):c.964G>A (p.Ala322Thr)
|
rs201356862
|
0.00035
|
NM_201253.3(CRB1):c.2976A>G (p.Ala992=)
|
rs200379694
|
0.00035
|
NM_000033.4(ABCD1):c.1581C>T (p.Tyr527=)
|
rs145073701
|
0.00034
|
NM_000057.4(BLM):c.1467G>A (p.Arg489=)
|
rs56257041
|
0.00034
|
NM_000057.4(BLM):c.759G>A (p.Gln253=)
|
rs34580216
|
0.00034
|
NM_000057.4(BLM):c.780T>C (p.Thr260=)
|
rs55763079
|
0.00034
|
NM_000094.4(COL7A1):c.2600C>T (p.Pro867Leu)
|
rs191043504
|
0.00034
|
NM_000094.4(COL7A1):c.8541T>C (p.Pro2847=)
|
rs79473918
|
0.00034
|
NM_000243.3(MEFV):c.1344A>C (p.Ala448=)
|
rs143337771
|
0.00034
|
NM_000243.3(MEFV):c.2292G>T (p.Gly764=)
|
rs142352887
|
0.00034
|
NM_000260.4(MYO7A):c.687C>T (p.Gly229=)
|
rs371142158
|
0.00034
|
NM_000360.4(TH):c.1255G>A (p.Val419Met)
|
rs184106392
|
0.00034
|
NM_000466.3(PEX1):c.939T>C (p.His313=)
|
rs199647157
|
0.00034
|
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met)
|
rs1800103
|
0.00034
|
NM_000784.4(CYP27A1):c.891G>T (p.Leu297=)
|
rs144455258
|
0.00034
|
NM_001164508.2(NEB):c.5712T>C (p.Pro1904=)
|
rs35946547
|
0.00034
|
NM_001876.4(CPT1A):c.492G>A (p.Leu164=)
|
rs200836324
|
0.00034
|
NM_003659.4(AGPS):c.148C>T (p.Arg50Trp)
|
rs778087162
|
0.00034
|
NM_017739.4(POMGNT1):c.486A>G (p.Leu162=)
|
rs138330966
|
0.00034
|
NM_032383.5(HPS3):c.2364A>G (p.Ala788=)
|
rs149563235
|
0.00034
|
NM_054012.4(ASS1):c.411C>T (p.Pro137=)
|
rs139250536
|
0.00034
|
NM_057176.3(BSND):c.309G>C (p.Glu103Asp)
|
rs200246335
|
0.00034
|
NM_152564.5(VPS13B):c.10521C>T (p.Tyr3507=)
|
rs767239312
|
0.00034
|
NM_201548.5(CERKL):c.102G>T (p.Thr34=)
|
rs149346187
|
0.00034
|
NM_206933.4(USH2A):c.5609G>A (p.Arg1870Gln)
|
rs111033409
|
0.00034
|
NM_000033.4(ABCD1):c.1810G>A (p.Val604Ile)
|
rs151201945
|
0.00033
|
NM_001130987.2(DYSF):c.5333C>A (p.Pro1778Gln)
|
rs145272777
|
0.00033
|
NM_001369.3(DNAH5):c.894C>G (p.Asn298Lys)
|
rs116995413
|
0.00033
|
NM_001876.4(CPT1A):c.2013C>T (p.Ser671=)
|
rs755323437
|
0.00033
|
NM_002076.4(GNS):c.4C>T (p.Arg2Trp)
|
rs200441930
|
0.00033
|
NM_004006.3(DMD):c.10836C>T (p.Ser3612=)
|
rs148590546
|
0.00033
|
NM_004006.3(DMD):c.8824G>T (p.Ala2942Ser)
|
rs755127162
|
0.00033
|
NM_004035.7(ACOX1):c.339C>T (p.His113=)
|
rs368106231
|
0.00033
|
NM_015166.4(MLC1):c.598-9C>T
|
rs200463656
|
0.00033
|
NM_017739.4(POMGNT1):c.549C>T (p.Phe183=)
|
rs140724142
|
0.00033
|
NM_022124.6(CDH23):c.10044C>G (p.Pro3348=)
|
rs370568585
|
0.00033
|
NM_000051.4(ATM):c.103C>A (p.Arg35=)
|
rs55861249
|
0.00032
|
NM_000057.4(BLM):c.3041A>G (p.His1014Arg)
|
rs145022945
|
0.00032
|
NM_000128.4(F11):c.1305-5C>T
|
rs375998777
|
0.00032
|
NM_000159.4(GCDH):c.1044C>T (p.His348=)
|
rs140134376
|
0.00032
|
NM_000260.4(MYO7A):c.5253G>T (p.Pro1751=)
|
rs377388669
|
0.00032
|
NM_000288.4(PEX7):c.94C>T (p.Leu32=)
|
rs886061118
|
0.00032
|
NM_000481.4(AMT):c.101G>A (p.Arg34His)
|
rs138259479
|
0.00032
|
NM_001283009.2(RTEL1):c.372C>T (p.Asn124=)
|
rs61736622
|
0.00032
|
NM_001384474.1(LOXHD1):c.4632G>A (p.Lys1544=)
|
rs924829697
|
0.00032
|
NM_003742.4(ABCB11):c.1248C>A (p.Ile416=)
|
rs183390670
|
0.00032
|
NM_004006.3(DMD):c.8767G>T (p.Ala2923Ser)
|
rs116283249
|
0.00032
|
NM_004006.3(DMD):c.94-9T>A
|
rs3764764
|
0.00032
|
NM_005629.4(SLC6A8):c.1162G>A (p.Ala388Thr)
|
rs374163604
|
0.00032
|
NM_014251.3(SLC25A13):c.1230A>C (p.Thr410=)
|
rs150021522
|
0.00032
|
NM_014363.6(SACS):c.7725A>T (p.Ile2575=)
|
rs200735789
|
0.00032
|
NM_014844.5(TECPR2):c.1546G>A (p.Val516Met)
|
rs141697267
|
0.00032
|
NM_025114.4(CEP290):c.1908A>T (p.Lys636Asn)
|
rs199747962
|
0.00032
|
NM_052845.4(MMAB):c.206G>A (p.Ser69Asn)
|
rs147297426
|
0.00032
|
NM_152564.5(VPS13B):c.1041A>G (p.Ser347=)
|
rs149176010
|
0.00032
|
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr)
|
rs1801256
|
0.00031
|
NM_000094.4(COL7A1):c.2679G>A (p.Ala893=)
|
rs374261595
|
0.00031
|
NM_000094.4(COL7A1):c.6400C>T (p.Pro2134Ser)
|
rs148638156
|
0.00031
|
NM_000152.5(GAA):c.2478G>A (p.Leu826=)
|
rs201183207
|
0.00031
|
NM_000317.3(PTS):c.17G>T (p.Gly6Val)
|
rs138154701
|
0.00031
|
NM_000532.5(PCCB):c.180G>A (p.Lys60=)
|
rs140636870
|
0.00031
|
NM_001003722.2(GLE1):c.116G>A (p.Cys39Tyr)
|
rs138871311
|
0.00031
|
NM_001003722.2(GLE1):c.1641T>C (p.Tyr547=)
|
rs77053118
|
0.00031
|
NM_001130987.2(DYSF):c.3002A>C (p.Lys1001Thr)
|
rs34061568
|
0.00031
|
NM_001130987.2(DYSF):c.3408C>T (p.Gly1136=)
|
rs146498307
|
0.00031
|
NM_001164508.2(NEB):c.6817A>G (p.Lys2273Glu)
|
rs199700878
|
0.00031
|
NM_001174089.2(SLC4A11):c.2238C>T (p.Ser746=)
|
rs377076488
|
0.00031
|
NM_002076.4(GNS):c.468C>T (p.Ala156=)
|
rs147780685
|
0.00031
|
NM_002529.4(NTRK1):c.315C>T (p.Phe105=)
|
rs6340
|
0.00031
|
NM_004035.7(ACOX1):c.1418C>T (p.Thr473Ile)
|
rs200608977
|
0.00031
|
NM_005373.3(MPL):c.1536G>A (p.Leu512=)
|
rs137990502
|
0.00031
|
NM_006432.5(NPC2):c.273T>C (p.Asp91=)
|
rs151071820
|
0.00031
|
NM_014363.6(SACS):c.10008A>G (p.Lys3336=)
|
rs148971954
|
0.00031
|
NM_014363.6(SACS):c.2580A>G (p.Gln860=)
|
rs41283958
|
0.00031
|
NM_014625.4(NPHS2):c.144C>T (p.Ser48=)
|
rs111306764
|
0.00031
|
NM_014844.5(TECPR2):c.3294C>T (p.His1098=)
|
rs144141409
|
0.00031
|
NM_019098.5(CNGB3):c.1936T>C (p.Leu646=)
|
rs149119556
|
0.00031
|
NM_033305.3(VPS13A):c.3508-8T>C
|
rs376751858
|
0.00031
|
NM_130849.4(SLC39A4):c.321C>T (p.Pro107=)
|
rs148918238
|
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_213653.4(HJV):c.387G>A (p.Pro129=)
|
rs375878216
|
0.00031
|
NM_000094.4(COL7A1):c.6936+8T>C
|
rs374882140
|
0.00030
|
NM_000246.4(CIITA):c.3150-6C>T
|
rs192219239
|
0.00030
|
NM_000382.3(ALDH3A2):c.417G>A (p.Leu139=)
|
rs200806435
|
0.00030
|
NM_000414.4(HSD17B4):c.1670A>T (p.Lys557Met)
|
rs73790880
|
0.00030
|
NM_000498.3(CYP11B2):c.801T>C (p.Gly267=)
|
rs201063442
|
0.00030
|
NM_001953.5(TYMP):c.1443G>A (p.Gln481=)
|
rs377497287
|
0.00030
|
NM_002529.4(NTRK1):c.505G>A (p.Gly169Arg)
|
rs367836863
|
0.00030
|
NM_004035.7(ACOX1):c.1287C>A (p.Leu429=)
|
rs141015974
|
0.00030
|
NM_014140.4(SMARCAL1):c.1296C>T (p.Leu432=)
|
rs151159565
|
0.00030
|
NM_014244.5(ADAMTS2):c.2439C>T (p.His813=)
|
rs141661592
|
0.00030
|
NM_138413.4(HOGA1):c.185A>T (p.His62Leu)
|
rs150812556
|
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_000053.4(ATP7B):c.3324C>T (p.Asn1108=)
|
rs372456815
|
0.00029
|
NM_000057.4(BLM):c.2115T>C (p.Val705=)
|
rs142787700
|
0.00029
|
NM_000057.4(BLM):c.43C>T (p.Arg15Cys)
|
rs148545569
|
0.00029
|
NM_000070.3(CAPN3):c.1842G>C (p.Glu614Asp)
|
rs201607149
|
0.00029
|
NM_000094.4(COL7A1):c.7825A>G (p.Ile2609Val)
|
rs201839881
|
0.00029
|
NM_000108.5(DLD):c.763A>C (p.Met255Leu)
|
rs533405046
|
0.00029
|
NM_000155.4(GALT):c.498T>C (p.Pro166=)
|
rs193922249
|
0.00029
|
NM_000243.3(MEFV):c.1827C>G (p.Pro609=)
|
rs104895135
|
0.00029
|
NM_000260.4(MYO7A):c.6165C>T (p.Ser2055=)
|
rs397516327
|
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_000360.4(TH):c.91-891G>A
|
rs371277838
|
0.00029
|
NM_000397.4(CYBB):c.6G>C (p.Gly2=)
|
rs372462475
|
0.00029
|
NM_000486.6(AQP2):c.579C>T (p.Val193=)
|
rs201812544
|
0.00029
|
NM_000520.6(HEXA):c.1338T>C (p.Pro446=)
|
rs34085965
|
0.00029
|
NM_000525.4(KCNJ11):c.843C>T (p.Leu281=)
|
rs116392938
|
0.00029
|
NM_000527.5(LDLR):c.507C>T (p.Asn169=)
|
rs146354103
|
0.00029
|
NM_000709.4(BCKDHA):c.294G>A (p.Pro98=)
|
rs142967869
|
0.00029
|
NM_001003722.2(GLE1):c.447A>G (p.Leu149=)
|
rs148220489
|
0.00029
|
NM_001142800.2(EYS):c.5577C>T (p.Pro1859=)
|
rs747911999
|
0.00029
|
NM_001164508.2(NEB):c.20098C>A (p.Leu6700Ile)
|
rs202139330
|
0.00029
|
NM_001164508.2(NEB):c.21522T>C (p.Asp7174=)
|
rs185169373
|
0.00029
|
NM_001164508.2(NEB):c.23013C>T (p.Ser7671=)
|
rs370873040
|
0.00029
|
NM_001283009.2(RTEL1):c.1037+10G>A
|
rs368590236
|
0.00029
|
NM_001378454.1(ALMS1):c.9617C>T (p.Thr3206Ile)
|
rs201624771
|
0.00029
|
NM_002778.4(PSAP):c.117G>A (p.Ala39=)
|
rs200836594
|
0.00029
|
NM_003227.4(TFR2):c.1812T>C (p.Tyr604=)
|
rs147286030
|
0.00029
|
NM_005957.5(MTHFR):c.1281T>C (p.Ser427=)
|
rs149533586
|
0.00029
|
NM_006118.4(HAX1):c.428G>C (p.Gly143Ala)
|
rs755031266
|
0.00029
|
NM_012144.4(DNAI1):c.276G>A (p.Lys92=)
|
rs140983343
|
0.00029
|
NM_014363.6(SACS):c.2929C>T (p.Leu977=)
|
rs146296924
|
0.00029
|
NM_014363.6(SACS):c.9562T>C (p.Phe3188Leu)
|
rs137905181
|
0.00029
|
NM_014844.5(TECPR2):c.2021C>T (p.Pro674Leu)
|
rs149022686
|
0.00029
|
NM_019098.5(CNGB3):c.912C>T (p.Val304=)
|
rs117806701
|
0.00029
|
NM_024996.7(GFM1):c.1102T>C (p.Leu368=)
|
rs142843314
|
0.00029
|
NM_138694.4(PKHD1):c.4266G>A (p.Arg1422=)
|
rs146468152
|
0.00029
|
NM_000033.4(ABCD1):c.181G>A (p.Ala61Thr)
|
rs782134465
|
0.00028
|
NM_000094.4(COL7A1):c.7212G>A (p.Gly2404=)
|
rs147925598
|
0.00028
|
NM_000136.3(FANCC):c.973G>A (p.Ala325Thr)
|
rs201407189
|
0.00028
|
NM_000170.3(GLDC):c.2874C>T (p.Ser958=)
|
rs146339375
|
0.00028
|
NM_001130987.2(DYSF):c.1311C>T (p.Ile437=)
|
rs148697028
|
0.00028
|
NM_001384474.1(LOXHD1):c.4824C>G (p.Val1608=)
|
rs114557260
|
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_022124.6(CDH23):c.4095C>T (p.Asp1365=)
|
rs368582818
|
0.00028
|
NM_022124.6(CDH23):c.8859C>T (p.Asp2953=)
|
rs11000008
|
0.00028
|
NM_033305.3(VPS13A):c.1528C>T (p.Leu510=)
|
rs147954757
|
0.00028
|
NM_033380.3(COL4A5):c.4353A>T (p.Gly1451=)
|
rs146884759
|
0.00028
|
NM_138694.4(PKHD1):c.5235C>T (p.Phe1745=)
|
rs187667255
|
0.00028
|
NM_000052.7(ATP7A):c.282G>A (p.Ala94=)
|
rs370700841
|
0.00027
|
NM_001360.3(DHCR7):c.139C>T (p.Leu47=)
|
rs140721259
|
0.00027
|
NM_001384474.1(LOXHD1):c.4031G>T (p.Cys1344Phe)
|
rs368870055
|
0.00027
|
NM_004006.3(DMD):c.2380+10C>T
|
rs372330460
|
0.00027
|
NM_004006.3(DMD):c.9804A>G (p.Gln3268=)
|
rs12690372
|
0.00027
|
NM_004646.4(NPHS1):c.1610C>T (p.Thr537Met)
|
rs368913905
|
0.00027
|
NM_014244.5(ADAMTS2):c.2958+7A>G
|
rs377461767
|
0.00027
|
NM_138694.4(PKHD1):c.4038C>T (p.Asn1346=)
|
rs147584295
|
0.00027
|
NM_206933.4(USH2A):c.8357T>C (p.Phe2786Ser)
|
rs111033262
|
0.00027
|
NM_000018.4(ACADVL):c.1533-4T>A
|
rs369986567
|
0.00026
|
NM_000080.4(CHRNE):c.23T>C (p.Val8Ala)
|
rs199807050
|
0.00026
|
NM_000152.5(GAA):c.2736G>A (p.Ala912=)
|
rs142472738
|
0.00026
|
NM_000154.2(GALK1):c.-22T>C
|
rs545362817
|
0.00026
|
NM_000170.3(GLDC):c.2126A>G (p.Asn709Ser)
|
rs150943866
|
0.00026
|
NM_000317.3(PTS):c.195T>C (p.Pro65=)
|
rs143472856
|
0.00026
|
NM_000441.2(SLC26A4):c.1001+30A>G
|
rs556184448
|
0.00026
|
NM_000527.5(LDLR):c.1875C>T (p.Asn625=)
|
rs137853962
|
0.00026
|
NM_001039958.2(MESP2):c.357G>C (p.Leu119=)
|
rs575410954
|
0.00026
|
NM_001130987.2(DYSF):c.1407G>A (p.Thr469=)
|
rs150093305
|
0.00026
|
NM_001142800.2(EYS):c.9237A>G (p.Leu3079=)
|
rs139944387
|
0.00026
|
NM_001360.3(DHCR7):c.586A>G (p.Met196Val)
|
rs200474791
|
0.00026
|
NM_001384140.1(PCDH15):c.3724G>A (p.Val1242Met)
|
rs201137087
|
0.00026
|
NM_001384474.1(LOXHD1):c.1313A>G (p.Lys438Arg)
|
rs186138859
|
0.00026
|
NM_001384474.1(LOXHD1):c.231C>T (p.Leu77=)
|
rs200306249
|
0.00026
|
NM_001386140.1(MTTP):c.1893C>T (p.Tyr631=)
|
rs151204426
|
0.00026
|
NM_001399.5(EDA):c.464G>A (p.Arg155His)
|
rs144403117
|
0.00026
|
NM_002225.5(IVD):c.916C>G (p.Leu306Val)
|
rs144418134
|
0.00026
|
NM_003227.4(TFR2):c.1242C>T (p.Phe414=)
|
rs150883560
|
0.00026
|
NM_004006.3(DMD):c.1252A>T (p.Thr418Ser)
|
rs201341211
|
0.00026
|
NM_004006.3(DMD):c.1575A>G (p.Ala525=)
|
rs144372300
|
0.00026
|
NM_004006.3(DMD):c.3433G>C (p.Val1145Leu)
|
rs767442827
|
0.00026
|
NM_005609.4(PYGM):c.1870G>A (p.Val624Ile)
|
rs143217651
|
0.00026
|
NM_012203.2(GRHPR):c.468C>T (p.Val156=)
|
rs142509393
|
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_017739.4(POMGNT1):c.1284+9G>C
|
rs565797493
|
0.00026
|
NM_020320.5(RARS2):c.1637C>T (p.Pro546Leu)
|
rs142348911
|
0.00026
|
NM_033305.3(VPS13A):c.516G>A (p.Pro172=)
|
rs141109675
|
0.00026
|
NM_138694.4(PKHD1):c.11400G>A (p.Gly3800=)
|
rs149427926
|
0.00026
|
NM_206933.4(USH2A):c.6001C>T (p.Arg2001Cys)
|
rs141539554
|
0.00026
|
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr)
|
rs150757822
|
0.00025
|
NM_000071.3(CBS):c.33G>A (p.Gly11=)
|
rs567323664
|
0.00025
|
NM_000091.5(COL4A3):c.1353C>T (p.His451=)
|
rs189364374
|
0.00025
|
NM_000094.4(COL7A1):c.3277-7A>G
|
rs376192100
|
0.00025
|
NM_000128.4(F11):c.866-9G>A
|
rs200218867
|
0.00025
|
NM_000169.3(GLA):c.-44C>T
|
rs781906252
|
0.00025
|
NM_000232.5(SGCB):c.495C>T (p.Asp165=)
|
rs142801720
|
0.00025
|
NM_000383.4(AIRE):c.507C>T (p.Ser169=)
|
rs566659101
|
0.00025
|
NM_000528.4(MAN2B1):c.1158G>A (p.Gln386=)
|
rs112829030
|
0.00025
|
NM_001142800.2(EYS):c.7239T>C (p.Ile2413=)
|
rs776743787
|
0.00025
|
NM_001164508.2(NEB):c.17838G>A (p.Gln5946=)
|
rs376199241
|
0.00025
|
NM_001174089.2(SLC4A11):c.735C>T (p.Ser245=)
|
rs150937996
|
0.00025
|
NM_001875.5(CPS1):c.2421G>A (p.Glu807=)
|
rs140726293
|
0.00025
|
NM_003640.5(ELP1):c.3701-6C>G
|
rs148535504
|
0.00025
|
NM_004006.3(DMD):c.8076A>G (p.Gln2692=)
|
rs144518527
|
0.00025
|
NM_012203.2(GRHPR):c.391G>A (p.Glu131Lys)
|
rs369339903
|
0.00025
|
NM_015272.5(RPGRIP1L):c.3780C>T (p.Val1260=)
|
rs144924117
|
0.00025
|
NM_015506.3(MMACHC):c.126G>A (p.Pro42=)
|
rs201112314
|
0.00025
|
NM_020320.5(RARS2):c.207A>G (p.Ala69=)
|
rs568483789
|
0.00025
|
NM_022124.6(CDH23):c.6489G>C (p.Leu2163=)
|
rs111033493
|
0.00025
|
NM_025215.6(PUS1):c.1065G>T (p.Pro355=)
|
rs147555676
|
0.00025
|
NM_033380.3(COL4A5):c.3771A>G (p.Gln1257=)
|
rs148046007
|
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_152618.3(BBS12):c.1257C>T (p.Ser419=)
|
rs34652786
|
0.00025
|
NM_201253.3(CRB1):c.866C>T (p.Thr289Met)
|
rs62636263
|
0.00025
|
NM_000033.4(ABCD1):c.1117A>G (p.Lys373Glu)
|
rs368606000
|
0.00024
|
NM_000057.4(BLM):c.3225A>G (p.Arg1075=)
|
rs7171673
|
0.00024
|
NM_000094.4(COL7A1):c.1857A>G (p.Gly619=)
|
rs145812249
|
0.00024
|
NM_000098.3(CPT2):c.1422C>A (p.Ala474=)
|
rs192779168
|
0.00024
|
NM_000128.4(F11):c.126C>T (p.Ser42=)
|
rs754973084
|
0.00024
|
NM_000137.4(FAH):c.831G>A (p.Pro277=)
|
rs372980573
|
0.00024
|
NM_000154.2(GALK1):c.447G>A (p.Thr149=)
|
rs765744088
|
0.00024
|
NM_000159.4(GCDH):c.417G>A (p.Ser139=)
|
rs201583578
|
0.00024
|
NM_000235.4(LIPA):c.396C>G (p.Leu132=)
|
rs201603238
|
0.00024
|
NM_000246.4(CIITA):c.1053C>T (p.Ala351=)
|
rs147912483
|
0.00024
|
NM_000246.4(CIITA):c.2817-10T>C
|
rs75381106
|
0.00024
|
NM_000359.3(TGM1):c.167C>T (p.Ala56Val)
|
rs147479810
|
0.00024
|
NM_000390.4(CHM):c.1380T>C (p.Asp460=)
|
rs138395490
|
0.00024
|
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_001122769.3(LCA5):c.768G>A (p.Gln256=)
|
rs142495741
|
0.00024
|
NM_001130987.2(DYSF):c.3343C>T (p.Arg1115Cys)
|
rs147483765
|
0.00024
|
NM_001174089.2(SLC4A11):c.2226G>A (p.Ser742=)
|
rs200879869
|
0.00024
|
NM_001283009.2(RTEL1):c.3090G>A (p.Ser1030=)
|
rs187238540
|
0.00024
|
NM_001875.5(CPS1):c.1200A>G (p.Lys400=)
|
rs141545954
|
0.00024
|
NM_001876.4(CPT1A):c.171A>G (p.Ala57=)
|
rs758539295
|
0.00024
|
NM_002435.3(MPI):c.908T>C (p.Ile303Thr)
|
rs139866632
|
0.00024
|
NM_002437.5(MPV17):c.249G>A (p.Val83=)
|
rs199952690
|
0.00024
|
NM_003227.4(TFR2):c.19C>T (p.Leu7=)
|
rs367635364
|
0.00024
|
NM_003742.4(ABCB11):c.3846C>T (p.Asn1282=)
|
rs369538863
|
0.00024
|
NM_004006.3(DMD):c.2884C>G (p.Leu962Val)
|
rs150959827
|
0.00024
|
NM_004006.3(DMD):c.9165G>A (p.Thr3055=)
|
rs137905486
|
0.00024
|
NM_005373.3(MPL):c.963G>T (p.Arg321=)
|
rs138636505
|
0.00024
|
NM_014140.4(SMARCAL1):c.2427+9C>T
|
rs201601053
|
0.00024
|
NM_014363.6(SACS):c.8577C>T (p.His2859=)
|
rs140016265
|
0.00024
|
NM_014844.5(TECPR2):c.1677T>C (p.Ser559=)
|
rs375017422
|
0.00024
|
NM_014844.5(TECPR2):c.3831C>T (p.Asn1277=)
|
rs200792120
|
0.00024
|
NM_014844.5(TECPR2):c.672A>G (p.Gly224=)
|
rs138689342
|
0.00024
|
NM_017739.4(POMGNT1):c.1786-6C>T
|
rs202028128
|
0.00024
|
NM_020533.3(MCOLN1):c.1158C>T (p.Cys386=)
|
rs139922988
|
0.00024
|
NM_025114.4(CEP290):c.4182G>A (p.Val1394=)
|
rs371530941
|
0.00024
|
NM_031885.5(BBS2):c.1104C>T (p.Asn368=)
|
rs141731677
|
0.00024
|
NM_032383.5(HPS3):c.1821C>G (p.Ile607Met)
|
rs148168280
|
0.00024
|
NM_033159.4(HYAL1):c.141C>T (p.His47=)
|
rs147089930
|
0.00024
|
NM_033305.3(VPS13A):c.6984T>C (p.Ala2328=)
|
rs144477984
|
0.00024
|
NM_033380.3(COL4A5):c.2979T>G (p.Pro993=)
|
rs41306255
|
0.00024
|
NM_130849.4(SLC39A4):c.723C>T (p.His241=)
|
rs574169037
|
0.00024
|
NM_138694.4(PKHD1):c.1257C>T (p.Val419=)
|
rs374650666
|
0.00024
|
NM_178138.6(LHX3):c.441C>T (p.Thr147=)
|
rs200521449
|
0.00024
|
NM_205861.3(DHDDS):c.908C>T (p.Ser303Leu)
|
rs141852437
|
0.00024
|
NM_000033.4(ABCD1):c.249C>T (p.Phe83=)
|
rs782628755
|
0.00023
|
NM_000057.4(BLM):c.174T>C (p.Pro58=)
|
rs576862402
|
0.00023
|
NM_000094.4(COL7A1):c.6357G>A (p.Pro2119=)
|
rs142298581
|
0.00023
|
NM_000206.3(IL2RG):c.78A>T (p.Thr26=)
|
rs147424359
|
0.00023
|
NM_000284.4(PDHA1):c.894A>G (p.Gly298=)
|
rs1329322647
|
0.00023
|
NM_000382.3(ALDH3A2):c.1108-3C>T
|
rs148944691
|
0.00023
|
NM_001164508.2(NEB):c.2343G>A (p.Lys781=)
|
rs191610670
|
0.00023
|
NM_001164508.2(NEB):c.5181C>T (p.Tyr1727=)
|
rs35016946
|
0.00023
|
NM_001370658.1(BTD):c.430A>C (p.Arg144=)
|
rs556096072
|
0.00023
|
NM_001378454.1(ALMS1):c.11070C>T (p.Gly3690=)
|
rs371329585
|
0.00023
|
NM_004006.3(DMD):c.1337A>G (p.His446Arg)
|
rs72468699
|
0.00023
|
NM_004006.3(DMD):c.2386G>A (p.Val796Ile)
|
rs139726281
|
0.00023
|
NM_004006.3(DMD):c.696C>G (p.Ile232Met)
|
rs145668843
|
0.00023
|
NM_004006.3(DMD):c.7310-7A>G
|
rs373230021
|
0.00023
|
NM_004006.3(DMD):c.884G>A (p.Arg295Gln)
|
rs377587957
|
0.00023
|
NM_005476.7(GNE):c.843C>T (p.His281=)
|
rs138694766
|
0.00023
|
NM_014244.5(ADAMTS2):c.2613C>T (p.Gly871=)
|
rs145016043
|
0.00023
|
NM_014844.5(TECPR2):c.3246G>C (p.Gly1082=)
|
rs373876214
|
0.00023
|
NM_014844.5(TECPR2):c.4035C>T (p.Ala1345=)
|
rs376614211
|
0.00023
|
NM_022124.6(CDH23):c.1595C>T (p.Thr532Met)
|
rs201297042
|
0.00023
|
NM_033305.3(VPS13A):c.5594C>T (p.Thr1865Ile)
|
rs143449578
|
0.00023
|
NM_054012.4(ASS1):c.240C>T (p.Ser80=)
|
rs147910468
|
0.00023
|
NM_130849.4(SLC39A4):c.615C>T (p.Phe205=)
|
rs201681875
|
0.00023
|
NM_174878.3(CLRN1):c.660C>T (p.Asp220=)
|
rs148752352
|
0.00023
|
NM_213653.4(HJV):c.435G>C (p.Pro145=)
|
rs370184725
|
0.00023
|
NM_000030.3(AGXT):c.145A>C (p.Met49Leu)
|
rs74205173
|
0.00022
|
NM_000053.4(ATP7B):c.3105C>T (p.Gly1035=)
|
rs200324179
|
0.00022
|
NM_000137.4(FAH):c.747A>G (p.Pro249=)
|
rs138757552
|
0.00022
|
NM_000152.5(GAA):c.1599C>T (p.Cys533=)
|
rs142766716
|
0.00022
|
NM_000166.6(GJB1):c.507C>T (p.Asp169=)
|
rs373334326
|
0.00022
|
NM_000235.4(LIPA):c.1009A>G (p.Thr337Ala)
|
rs143793106
|
0.00022
|
NM_000237.3(LPL):c.687T>C (p.His229=)
|
rs45607438
|
0.00022
|
NM_000252.3(MTM1):c.1052A>G (p.Lys351Arg)
|
rs150430628
|
0.00022
|
NM_000289.6(PFKM):c.1653+8C>T
|
rs369425921
|
0.00022
|
NM_000359.3(TGM1):c.876+10G>A
|
rs201936986
|
0.00022
|
NM_000383.4(AIRE):c.912C>T (p.Asp304=)
|
rs149769247
|
0.00022
|
NM_000466.3(PEX1):c.2640T>C (p.Tyr880=)
|
rs201719745
|
0.00022
|
NM_000518.5(HBB):c.246C>A (p.Leu82=)
|
rs145669504
|
0.00022
|
NM_000518.5(HBB):c.294C>T (p.His98=)
|
rs34515413
|
0.00022
|
NM_001283009.2(RTEL1):c.3129A>G (p.Pro1043=)
|
rs199578945
|
0.00022
|
NM_002617.4(PEX10):c.611G>A (p.Arg204His)
|
rs199934621
|
0.00022
|
NM_003227.4(TFR2):c.447G>A (p.Gly149=)
|
rs41302366
|
0.00022
|
NM_004006.3(DMD):c.3951G>A (p.Glu1317=)
|
rs199643655
|
0.00022
|
NM_004006.3(DMD):c.8138A>G (p.Asn2713Ser)
|
rs758633794
|
0.00022
|
NM_004006.3(DMD):c.9287-8C>T
|
rs371035624
|
0.00022
|
NM_004646.4(NPHS1):c.126G>T (p.Thr42=)
|
rs145683325
|
0.00022
|
NM_005609.4(PYGM):c.2177+7G>A
|
rs201366697
|
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_024301.5(FKRP):c.885C>T (p.Arg295=)
|
rs769005880
|
0.00022
|
NM_024312.5(GNPTAB):c.70T>G (p.Phe24Val)
|
rs141329633
|
0.00022
|
NM_057176.3(BSND):c.237C>T (p.Gly79=)
|
rs528075528
|
0.00022
|
NM_152618.3(BBS12):c.1499T>C (p.Val500Ala)
|
rs145392789
|
0.00022
|
NM_000091.5(COL4A3):c.3945A>G (p.Pro1315=)
|
rs189574905
|
0.00021
|
NM_000103.4(CYP19A1):c.639C>T (p.Ile213=)
|
rs147160979
|
0.00021
|
NM_000108.5(DLD):c.519T>G (p.Val173=)
|
rs148559280
|
0.00021
|
NM_000152.5(GAA):c.2152G>A (p.Val718Ile)
|
rs141017311
|
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_000289.6(PFKM):c.459C>T (p.Ser153=)
|
rs145519821
|
0.00021
|
NM_000330.4(RS1):c.264G>C (p.Gln88His)
|
rs201680258
|
0.00021
|
NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met)
|
rs150326995
|
0.00021
|
NM_000441.2(SLC26A4):c.1544+9C>T
|
rs368970459
|
0.00021
|
NM_000466.3(PEX1):c.1268A>G (p.Asn423Ser)
|
rs200857848
|
0.00021
|
NM_000498.3(CYP11B2):c.9C>A (p.Leu3=)
|
rs148205451
|
0.00021
|
NM_001033855.3(DCLRE1C):c.1368C>T (p.Asn456=)
|
rs144654282
|
0.00021
|
NM_001130987.2(DYSF):c.4106A>G (p.Asn1369Ser)
|
rs139529811
|
0.00021
|
NM_001142800.2(EYS):c.8916T>C (p.Tyr2972=)
|
rs867410198
|
0.00021
|
NM_001174089.2(SLC4A11):c.2136C>T (p.His712=)
|
rs368894887
|
0.00021
|
NM_001174089.2(SLC4A11):c.495C>T (p.Thr165=)
|
rs148099705
|
0.00021
|
NM_001378454.1(ALMS1):c.11772T>C (p.Asp3924=)
|
rs201924342
|
0.00021
|
NM_001384474.1(LOXHD1):c.1887C>T (p.Ser629=)
|
rs189550119
|
0.00021
|
NM_001384474.1(LOXHD1):c.1944C>T (p.Ser648=)
|
rs369039902
|
0.00021
|
NM_001875.5(CPS1):c.234A>G (p.Gly78=)
|
rs182678639
|
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_003227.4(TFR2):c.1640A>T (p.Tyr547Phe)
|
rs573769443
|
0.00021
|
NM_003640.5(ELP1):c.1878C>T (p.Asp626=)
|
rs141596257
|
0.00021
|
NM_003659.4(AGPS):c.951C>T (p.Arg317=)
|
rs146526791
|
0.00021
|
NM_004006.3(DMD):c.2827C>T (p.Arg943Cys)
|
rs199986217
|
0.00021
|
NM_005373.3(MPL):c.209C>T (p.Pro70Leu)
|
rs61754776
|
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_014249.4(NR2E3):c.1233G>A (p.Ter411=)
|
rs377154860
|
0.00021
|
NM_014844.5(TECPR2):c.2280C>T (p.His760=)
|
rs61744796
|
0.00021
|
NM_015166.4(MLC1):c.76G>A (p.Ala26Thr)
|
rs201522059
|
0.00021
|
NM_015272.5(RPGRIP1L):c.1960G>A (p.Glu654Lys)
|
rs141979202
|
0.00021
|
NM_015272.5(RPGRIP1L):c.444T>C (p.Thr148=)
|
rs202149647
|
0.00021
|
NM_033305.3(VPS13A):c.621C>T (p.Ile207=)
|
rs146941948
|
0.00021
|
NM_033380.3(COL4A5):c.2400T>C (p.Asp800=)
|
rs372505008
|
0.00021
|
NM_033380.3(COL4A5):c.3296C>T (p.Ser1099Phe)
|
rs767087695
|
0.00021
|
NM_206933.4(USH2A):c.5844T>C (p.Arg1948=)
|
rs147930567
|
0.00021
|
NM_000019.4(ACAT1):c.979A>G (p.Ile327Val)
|
rs150038447
|
0.00020
|
NM_000049.4(ASPA):c.621T>C (p.His207=)
|
rs369805590
|
0.00020
|
NM_000052.7(ATP7A):c.2607A>G (p.Val869=)
|
rs61053012
|
0.00020
|
NM_000092.5(COL4A4):c.193-9C>G
|
rs190570269
|
0.00020
|
NM_000092.5(COL4A4):c.929G>A (p.Arg310Gln)
|
rs373741172
|
0.00020
|
NM_000094.4(COL7A1):c.1043G>A (p.Arg348Gln)
|
rs200570283
|
0.00020
|
NM_000094.4(COL7A1):c.3809C>T (p.Pro1270Leu)
|
rs145068043
|
0.00020
|
NM_000117.3(EMD):c.428C>T (p.Ser143Phe)
|
rs139983160
|
0.00020
|
NM_000152.5(GAA):c.2253C>T (p.Leu751=)
|
rs140441758
|
0.00020
|
NM_000182.5(HADHA):c.864A>G (p.Glu288=)
|
rs372425837
|
0.00020
|
NM_000195.5(HPS1):c.1801C>T (p.Leu601=)
|
rs368146160
|
0.00020
|
NM_000203.5(IDUA):c.1332C>T (p.Asp444=)
|
rs545473192
|
0.00020
|
NM_000359.3(TGM1):c.60T>C (p.Pro20=)
|
rs145812304
|
0.00020
|
NM_000382.3(ALDH3A2):c.1188T>G (p.Ser396=)
|
rs144496536
|
0.00020
|
NM_000441.2(SLC26A4):c.1491T>C (p.Gly497=)
|
rs150860491
|
0.00020
|
NM_001003722.2(GLE1):c.643-4A>G
|
rs369804957
|
0.00020
|
NM_001039958.2(MESP2):c.355C>T (p.Leu119=)
|
rs373605220
|
0.00020
|
NM_001122769.3(LCA5):c.338A>G (p.Asn113Ser)
|
rs181890907
|
0.00020
|
NM_001142800.2(EYS):c.8178T>C (p.Pro2726=)
|
rs767955491
|
0.00020
|
NM_001283009.2(RTEL1):c.2352C>T (p.Phe784=)
|
rs140564753
|
0.00020
|
NM_001378454.1(ALMS1):c.3092C>G (p.Thr1031Ser)
|
rs199922877
|
0.00020
|
NM_004006.3(DMD):c.1666G>A (p.Asp556Asn)
|
rs182708940
|
0.00020
|
NM_004006.3(DMD):c.1809G>A (p.Leu603=)
|
rs192176661
|
0.00020
|
NM_004006.3(DMD):c.3666T>C (p.Asn1222=)
|
rs373281760
|
0.00020
|
NM_004006.3(DMD):c.6571C>T (p.Arg2191Trp)
|
rs149322279
|
0.00020
|
NM_004006.3(DMD):c.7521C>T (p.Asn2507=)
|
rs112516305
|
0.00020
|
NM_004035.7(ACOX1):c.72C>T (p.Asp24=)
|
rs117585420
|
0.00020
|
NM_013339.4(ALG6):c.882T>C (p.Arg294=)
|
rs145894044
|
0.00020
|
NM_020533.3(MCOLN1):c.1152C>T (p.Asp384=)
|
rs147455130
|
0.00020
|
NM_033056.4(PCDH15):c.5557A>C (p.Met1853Leu)
|
rs145903555
|
0.00020
|
NM_033380.3(COL4A5):c.4015+5T>C
|
rs190856675
|
0.00020
|
NM_054012.4(ASS1):c.765C>T (p.Asn255=)
|
rs375579096
|
0.00020
|
NM_174878.3(CLRN1):c.9C>A (p.Ser3Arg)
|
rs187218889
|
0.00020
|
NM_201548.5(CERKL):c.900T>C (p.His300=)
|
rs183252158
|
0.00020
|
NM_206933.4(USH2A):c.7038C>T (p.His2346=)
|
rs145718407
|
0.00020
|
NM_000016.6(ACADM):c.468+62C>T
|
rs875989870
|
0.00019
|
NM_000030.3(AGXT):c.489G>A (p.Leu163=)
|
rs147601535
|
0.00019
|
NM_000051.4(ATM):c.1272T>C (p.Pro424=)
|
rs35578748
|
0.00019
|
NM_000094.4(COL7A1):c.7758+10G>A
|
rs371927547
|
0.00019
|
NM_000152.5(GAA):c.693-4G>T
|
rs200088236
|
0.00019
|
NM_000202.8(IDS):c.104A>G (p.Asp35Gly)
|
rs144081417
|
0.00019
|
NM_000243.3(MEFV):c.1038C>G (p.Gly346=)
|
rs141090517
|
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_000277.3(PAH):c.399T>C (p.Asn133=)
|
rs145692106
|
0.00019
|
NM_000303.3(PMM2):c.90C>G (p.Asp30Glu)
|
rs201556985
|
0.00019
|
NM_000414.4(HSD17B4):c.1311C>T (p.Ser437=)
|
rs369449821
|
0.00019
|
NM_000520.6(HEXA):c.1216C>T (p.Leu406=)
|
rs140482769
|
0.00019
|
NM_000521.4(HEXB):c.1614-14C>A
|
rs201448394
|
0.00019
|
NM_000784.4(CYP27A1):c.789C>T (p.Pro263=)
|
rs143600636
|
0.00019
|
NM_001017420.3(ESCO2):c.382G>A (p.Gly128Arg)
|
rs143828675
|
0.00019
|
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln)
|
rs115407852
|
0.00019
|
NM_001142800.2(EYS):c.2309A>C (p.Gln770Pro)
|
rs398123574
|
0.00019
|
NM_001164508.2(NEB):c.4149C>T (p.Thr1383=)
|
rs148794372
|
0.00019
|
NM_001283009.2(RTEL1):c.1349-9G>A
|
rs772899702
|
0.00019
|
NM_001283009.2(RTEL1):c.396-18G>A
|
rs200598131
|
0.00019
|
NM_001378454.1(ALMS1):c.4049A>G (p.His1350Arg)
|
rs373366352
|
0.00019
|
NM_001692.4(ATP6V1B1):c.1332C>T (p.Leu444=)
|
rs372223196
|
0.00019
|
NM_003982.4(SLC7A7):c.1064G>A (p.Arg355Gln)
|
rs11568423
|
0.00019
|
NM_004006.3(DMD):c.2166A>G (p.Lys722=)
|
rs147580966
|
0.00019
|
NM_004006.3(DMD):c.3379C>G (p.Leu1127Val)
|
rs141887693
|
0.00019
|
NM_004006.3(DMD):c.4072-3T>C
|
rs751657094
|
0.00019
|
NM_004006.3(DMD):c.6471T>A (p.Thr2157=)
|
rs377080659
|
0.00019
|
NM_004035.7(ACOX1):c.574C>A (p.Gln192Lys)
|
rs200833797
|
0.00019
|
NM_004035.7(ACOX1):c.877C>T (p.Leu293=)
|
rs368271580
|
0.00019
|
NM_004646.4(NPHS1):c.3243C>T (p.Val1081=)
|
rs370276697
|
0.00019
|
NM_005055.5(RAPSN):c.1203C>T (p.Asn401=)
|
rs757215612
|
0.00019
|
NM_005726.6(TSFM):c.726G>A (p.Thr242=)
|
rs140461538
|
0.00019
|
NM_005957.5(MTHFR):c.513C>A (p.Gly171=)
|
rs150963282
|
0.00019
|
NM_005957.5(MTHFR):c.870C>T (p.Asn290=)
|
rs141769179
|
0.00019
|
NM_006261.5(PROP1):c.96G>A (p.Pro32=)
|
rs144314831
|
0.00019
|
NM_006623.4(PHGDH):c.411+9C>T
|
rs187075075
|
0.00019
|
NM_012203.2(GRHPR):c.381G>A (p.Pro127=)
|
rs151336686
|
0.00019
|
NM_014297.5(ETHE1):c.184G>A (p.Ala62Thr)
|
rs138958351
|
0.00019
|
NM_014363.6(SACS):c.7647T>G (p.Leu2549=)
|
rs186301471
|
0.00019
|
NM_014363.6(SACS):c.9333T>C (p.Asn3111=)
|
rs150532740
|
0.00019
|
NM_014363.6(SACS):c.99T>C (p.Asp33=)
|
rs775206528
|
0.00019
|
NM_020533.3(MCOLN1):c.60C>T (p.Pro20=)
|
rs202247664
|
0.00019
|
NM_022124.6(CDH23):c.4542G>A (p.Gln1514=)
|
rs559831834
|
0.00019
|
NM_133259.4(LRPPRC):c.1929C>T (p.His643=)
|
rs200017171
|
0.00019
|
NM_138694.4(PKHD1):c.3984C>T (p.Val1328=)
|
rs182468850
|
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_153006.3(NAGS):c.210C>G (p.Ser70=)
|
rs570583859
|
0.00019
|
NM_183050.4(BCKDHB):c.63G>T (p.Gly21=)
|
rs368345065
|
0.00019
|
NM_206933.4(USH2A):c.1539C>T (p.Thr513=)
|
rs199939890
|
0.00019
|
NM_206933.4(USH2A):c.6683T>A (p.Val2228Glu)
|
rs117461552
|
0.00019
|
NM_000035.4(ALDOB):c.582T>C (p.Asp194=)
|
rs141988626
|
0.00018
|
NM_000057.4(BLM):c.807C>T (p.Ser269=)
|
rs147850738
|
0.00018
|
NM_000070.3(CAPN3):c.1668C>T (p.Ile556=)
|
rs199884116
|
0.00018
|
NM_000092.5(COL4A4):c.3885T>C (p.Gly1295=)
|
rs199839937
|
0.00018
|
NM_000094.4(COL7A1):c.2622C>T (p.His874=)
|
rs368634417
|
0.00018
|
NM_000094.4(COL7A1):c.6502-10C>G
|
rs200193957
|
0.00018
|
NM_000151.4(G6PC1):c.1002C>T (p.Pro334=)
|
rs143991162
|
0.00018
|
NM_000166.6(GJB1):c.30C>T (p.Leu10=)
|
rs183702021
|
0.00018
|
NM_000170.3(GLDC):c.1581-5C>T
|
rs184463452
|
0.00018
|
NM_000246.4(CIITA):c.567G>A (p.Ala189=)
|
rs143123121
|
0.00018
|
NM_000274.4(OAT):c.915G>T (p.Leu305=)
|
rs1249516048
|
0.00018
|
NM_000330.4(RS1):c.285G>A (p.Ser95=)
|
rs143920122
|
0.00018
|
NM_000391.4(TPP1):c.796C>T (p.Arg266Trp)
|
rs200138397
|
0.00018
|
NM_000525.4(KCNJ11):c.354G>A (p.Ser118=)
|
rs140636367
|
0.00018
|
NM_001130987.2(DYSF):c.2257C>A (p.His753Asn)
|
rs202123283
|
0.00018
|
NM_001130987.2(DYSF):c.5424C>T (p.Pro1808=)
|
rs137855767
|
0.00018
|
NM_001164508.2(NEB):c.20896C>T (p.Arg6966Cys)
|
rs115623365
|
0.00018
|
NM_001243279.3(ACSF3):c.933G>A (p.Pro311=)
|
rs150686471
|
0.00018
|
NM_001369.3(DNAH5):c.1752T>C (p.Gly584=)
|
rs201028861
|
0.00018
|
NM_001384474.1(LOXHD1):c.6220T>C (p.Leu2074=)
|
rs185604776
|
0.00018
|
NM_002454.3(MTRR):c.904-4C>G
|
rs370809675
|
0.00018
|
NM_002529.4(NTRK1):c.927G>A (p.Pro309=)
|
rs144015813
|
0.00018
|
NM_003060.4(SLC22A5):c.1377A>G (p.Arg459=)
|
rs142264458
|
0.00018
|
NM_003640.5(ELP1):c.1075C>T (p.Leu359=)
|
rs2230789
|
0.00018
|
NM_003640.5(ELP1):c.2916C>T (p.Asn972=)
|
rs752886385
|
0.00018
|
NM_004006.3(DMD):c.2096C>G (p.Ala699Gly)
|
rs202008454
|
0.00018
|
NM_004006.3(DMD):c.2291A>G (p.Asn764Ser)
|
rs199588981
|
0.00018
|
NM_004006.3(DMD):c.5933G>T (p.Arg1978Leu)
|
rs148135406
|
0.00018
|
NM_004006.3(DMD):c.94-3C>T
|
rs373907950
|
0.00018
|
NM_004035.7(ACOX1):c.465G>A (p.Thr155=)
|
rs148934573
|
0.00018
|
NM_005609.4(PYGM):c.72C>T (p.Asn24=)
|
rs757114579
|
0.00018
|
NM_006261.5(PROP1):c.385C>T (p.Arg129Cys)
|
rs140207251
|
0.00018
|
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_017777.4(MKS1):c.491G>A (p.Arg164His)
|
rs200149256
|
0.00018
|
NM_020320.5(RARS2):c.6G>A (p.Ala2=)
|
rs371542506
|
0.00018
|
NM_022124.6(CDH23):c.3431-6A>T
|
rs377614198
|
0.00018
|
NM_025216.3(WNT10A):c.534A>G (p.Gln178=)
|
rs746227205
|
0.00018
|
NM_033056.4(PCDH15):c.4772G>A (p.Arg1591Lys)
|
rs149384350
|
0.00018
|
NM_033305.3(VPS13A):c.6558T>C (p.Val2186=)
|
rs112596608
|
0.00018
|
NM_152564.5(VPS13B):c.9369C>T (p.Cys3123=)
|
rs745668942
|
0.00018
|
NM_178138.6(LHX3):c.534C>T (p.Thr178=)
|
rs564712080
|
0.00018
|
NM_000053.4(ATP7B):c.2859C>T (p.Tyr953=)
|
rs762782389
|
0.00017
|
NM_000092.5(COL4A4):c.4857T>C (p.Pro1619=)
|
rs184776061
|
0.00017
|
NM_000094.4(COL7A1):c.3038A>T (p.Gln1013Leu)
|
rs534667037
|
0.00017
|
NM_000128.4(F11):c.1255T>A (p.Ser419Thr)
|
rs568173895
|
0.00017
|
NM_000133.4(F9):c.1029C>T (p.Asn343=)
|
rs145026483
|
0.00017
|
NM_000152.5(GAA):c.1848C>T (p.Asp616=)
|
rs377175810
|
0.00017
|
NM_000152.5(GAA):c.2561G>A (p.Arg854Gln)
|
rs149968110
|
0.00017
|
NM_000170.3(GLDC):c.2352C>T (p.Pro784=)
|
rs367781728
|
0.00017
|
NM_000243.3(MEFV):c.1245C>T (p.Val415=)
|
rs104895195
|
0.00017
|
NM_000352.6(ABCC8):c.3345G>A (p.Thr1115=)
|
rs186634115
|
0.00017
|
NM_000441.2(SLC26A4):c.919-18T>G
|
rs767147359
|
0.00017
|
NM_000478.6(ALPL):c.413G>A (p.Arg138Gln)
|
rs140167865
|
0.00017
|
NM_000520.6(HEXA):c.517C>T (p.Leu173=)
|
rs200743199
|
0.00017
|
NM_001130987.2(DYSF):c.3756T>C (p.Tyr1252=)
|
rs141720146
|
0.00017
|
NM_001384474.1(LOXHD1):c.5658C>T (p.Ser1886=)
|
rs571456548
|
0.00017
|
NM_004006.3(DMD):c.2858C>T (p.Thr953Ile)
|
rs142133195
|
0.00017
|
NM_004006.3(DMD):c.5076A>G (p.Thr1692=)
|
rs145181319
|
0.00017
|
NM_004268.5(MED17):c.429G>A (p.Thr143=)
|
rs143585935
|
0.00017
|
NM_014244.5(ADAMTS2):c.3342C>T (p.Asn1114=)
|
rs79606317
|
0.00017
|
NM_017739.4(POMGNT1):c.1831C>T (p.Leu611=)
|
rs367848204
|
0.00017
|
NM_025114.4(CEP290):c.1918T>C (p.Leu640=)
|
rs541138095
|
0.00017
|
NM_025215.6(PUS1):c.1076C>T (p.Ala359Val)
|
rs142072030
|
0.00017
|
NM_032383.5(HPS3):c.1769G>A (p.Arg590His)
|
rs145158238
|
0.00017
|
NM_033380.3(COL4A5):c.2017A>G (p.Arg673Gly)
|
rs200348997
|
0.00017
|
NM_033380.3(COL4A5):c.2692A>G (p.Met898Val)
|
rs104886192
|
0.00017
|
NM_138694.4(PKHD1):c.2532C>T (p.Tyr844=)
|
rs150202544
|
0.00017
|
NM_172250.3(MMAA):c.630A>G (p.Pro210=)
|
rs374347679
|
0.00017
|
NM_000080.4(CHRNE):c.797C>T (p.Ala266Val)
|
rs201463598
|
0.00016
|
NM_000091.5(COL4A3):c.1362A>T (p.Pro454=)
|
rs377373374
|
0.00016
|
NM_000103.4(CYP19A1):c.721T>A (p.Tyr241Asn)
|
rs143562020
|
0.00016
|
NM_000128.4(F11):c.1843G>A (p.Val615Met)
|
rs202061241
|
0.00016
|
NM_000135.4(FANCA):c.3348+7G>T
|
rs185527578
|
0.00016
|
NM_000135.4(FANCA):c.688G>A (p.Val230Ile)
|
rs144560850
|
0.00016
|
NM_000137.4(FAH):c.150T>C (p.Phe50=)
|
rs186471906
|
0.00016
|
NM_000137.4(FAH):c.741C>T (p.Leu247=)
|
rs145851627
|
0.00016
|
NM_000198.4(HSD3B2):c.124T>C (p.Leu42=)
|
rs370732845
|
0.00016
|
NM_000198.4(HSD3B2):c.631C>T (p.Leu211=)
|
rs143038843
|
0.00016
|
NM_000202.8(IDS):c.41G>A (p.Gly14Asp)
|
rs373389352
|
0.00016
|
NM_000246.4(CIITA):c.2408C>T (p.Ala803Val)
|
rs577781366
|
0.00016
|
NM_000246.4(CIITA):c.471C>T (p.His157=)
|
rs149990869
|
0.00016
|
NM_000260.4(MYO7A):c.5688G>A (p.Gln1896=)
|
rs570316231
|
0.00016
|
NM_000260.4(MYO7A):c.6309C>T (p.Leu2103=)
|
rs371789765
|
0.00016
|
NM_000263.4(NAGLU):c.1662C>T (p.Pro554=)
|
rs368521316
|
0.00016
|
NM_000271.5(NPC1):c.3732C>T (p.Leu1244=)
|
rs1621962
|
0.00016
|
NM_000287.4(PEX6):c.2183C>T (p.Pro728Leu)
|
rs142899308
|
0.00016
|
NM_000383.4(AIRE):c.180C>T (p.His60=)
|
rs201591958
|
0.00016
|
NM_000383.4(AIRE):c.908G>A (p.Arg303Gln)
|
rs139808903
|
0.00016
|
NM_000441.2(SLC26A4):c.225C>G (p.Leu75=)
|
rs187447337
|
0.00016
|
NM_000492.4(CFTR):c.-4G>C
|
rs369326781
|
0.00016
|
NM_000528.4(MAN2B1):c.2973G>A (p.Thr991=)
|
rs148945108
|
0.00016
|
NM_000642.3(AGL):c.4575T>A (p.Ile1525=)
|
rs372116308
|
0.00016
|
NM_000784.4(CYP27A1):c.1184+9G>T
|
rs200457116
|
0.00016
|
NM_000784.4(CYP27A1):c.120C>T (p.Ala40=)
|
rs150389057
|
0.00016
|
NM_001033855.3(DCLRE1C):c.1287G>C (p.Leu429=)
|
rs115081573
|
0.00016
|
NM_001039958.2(MESP2):c.183C>T (p.Ser61=)
|
rs753168674
|
0.00016
|
NM_001130987.2(DYSF):c.225G>A (p.Thr75=)
|
rs200957354
|
0.00016
|
NM_001164508.2(NEB):c.8490G>A (p.Arg2830=)
|
rs368217121
|
0.00016
|
NM_001378454.1(ALMS1):c.11328C>T (p.His3776=)
|
rs45596541
|
0.00016
|
NM_001384140.1(PCDH15):c.3450C>A (p.Ile1150=)
|
rs146374856
|
0.00016
|
NM_001384474.1(LOXHD1):c.5985C>T (p.Asp1995=)
|
rs559560065
|
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_003640.5(ELP1):c.3477C>T (p.His1159=)
|
rs141257064
|
0.00016
|
NM_004006.3(DMD):c.8974G>A (p.Val2992Met)
|
rs201691420
|
0.00016
|
NM_005957.5(MTHFR):c.762C>T (p.Pro254=)
|
rs200789362
|
0.00016
|
NM_006118.4(HAX1):c.593C>T (p.Pro198Leu)
|
rs146152769
|
0.00016
|
NM_006623.4(PHGDH):c.1257G>A (p.Gly419=)
|
rs374303746
|
0.00016
|
NM_014049.5(ACAD9):c.1020A>G (p.Gly340=)
|
rs138401844
|
0.00016
|
NM_014244.5(ADAMTS2):c.3449A>G (p.Asn1150Ser)
|
rs200982805
|
0.00016
|
NM_014363.6(SACS):c.11703T>C (p.Asn3901=)
|
rs146154135
|
0.00016
|
NM_014363.6(SACS):c.3752T>C (p.Ile1251Thr)
|
rs76872266
|
0.00016
|
NM_014363.6(SACS):c.4302A>G (p.Leu1434=)
|
rs34559250
|
0.00016
|
NM_016277.5(RAB23):c.552G>A (p.Thr184=)
|
rs201731610
|
0.00016
|
NM_018941.4(CLN8):c.806A>T (p.Glu269Val)
|
rs139003032
|
0.00016
|
NM_019098.5(CNGB3):c.474C>T (p.Pro158=)
|
rs151230930
|
0.00016
|
NM_025114.4(CEP290):c.3955T>C (p.Leu1319=)
|
rs182851622
|
0.00016
|
NM_025216.3(WNT10A):c.1017C>T (p.Phe339=)
|
rs531326479
|
0.00016
|
NM_033159.4(HYAL1):c.600C>A (p.Gly200=)
|
rs374928005
|
0.00016
|
NM_054012.4(ASS1):c.174+4C>A
|
rs368133957
|
0.00016
|
NM_057176.3(BSND):c.9C>T (p.Asp3=)
|
rs141111550
|
0.00016
|
NM_138694.4(PKHD1):c.3048T>C (p.Asn1016=)
|
rs138989655
|
0.00016
|
NM_138694.4(PKHD1):c.633G>A (p.Gly211=)
|
rs144025892
|
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_153717.3(EVC):c.1536C>T (p.Ala512=)
|
rs368554773
|
0.00016
|
NM_205861.3(DHDDS):c.564T>C (p.Leu188=)
|
rs371976956
|
0.00016
|
NM_000033.4(ABCD1):c.901-5C>T
|
rs782603062
|
0.00015
|
NM_000092.5(COL4A4):c.2430C>G (p.Gly810=)
|
rs769363556
|
0.00015
|
NM_000094.4(COL7A1):c.3816C>T (p.Gly1272=)
|
rs138190232
|
0.00015
|
NM_000094.4(COL7A1):c.59G>C (p.Arg20Pro)
|
rs755340663
|
0.00015
|
NM_000094.4(COL7A1):c.630C>T (p.Leu210=)
|
rs117857033
|
0.00015
|
NM_000094.4(COL7A1):c.6312T>G (p.Ser2104=)
|
rs142907473
|
0.00015
|
NM_000135.4(FANCA):c.1413C>T (p.Val471=)
|
rs201561753
|
0.00015
|
NM_000159.4(GCDH):c.735C>T (p.Leu245=)
|
rs372678445
|
0.00015
|
NM_000195.5(HPS1):c.1286G>A (p.Arg429His)
|
rs201728087
|
0.00015
|
NM_000202.8(IDS):c.445T>G (p.Ser149Ala)
|
rs146846763
|
0.00015
|
NM_000243.3(MEFV):c.1518C>T (p.Ile506=)
|
rs104895099
|
0.00015
|
NM_000271.5(NPC1):c.2088T>C (p.Ala696=)
|
rs377179697
|
0.00015
|
NM_000271.5(NPC1):c.2501T>C (p.Met834Thr)
|
rs373435883
|
0.00015
|
NM_000383.4(AIRE):c.936C>T (p.Asp312=)
|
rs147889221
|
0.00015
|
NM_000390.4(CHM):c.1255A>G (p.Ile419Val)
|
rs140093046
|
0.00015
|
NM_000396.4(CTSK):c.169A>G (p.Ile57Val)
|
rs201446793
|
0.00015
|
NM_000441.2(SLC26A4):c.1995A>C (p.Ile665=)
|
rs185493402
|
0.00015
|
NM_000492.4(CFTR):c.2424T>C (p.Tyr808=)
|
rs143954792
|
0.00015
|
NM_000492.4(CFTR):c.360G>A (p.Ala120=)
|
rs1800077
|
0.00015
|
NM_000709.4(BCKDHA):c.924C>T (p.Asn308=)
|
rs139390622
|
0.00015
|
NM_001033855.3(DCLRE1C):c.1828A>G (p.Lys610Glu)
|
rs575678692
|
0.00015
|
NM_001033855.3(DCLRE1C):c.420G>A (p.Ala140=)
|
rs146832860
|
0.00015
|
NM_001079802.2(FKTN):c.333T>C (p.Thr111=)
|
rs141729611
|
0.00015
|
NM_001164508.2(NEB):c.4305G>A (p.Val1435=)
|
rs111241479
|
0.00015
|
NM_001243279.3(ACSF3):c.1197C>T (p.Cys399=)
|
rs768148002
|
0.00015
|
NM_001243279.3(ACSF3):c.285G>A (p.Glu95=)
|
rs187962814
|
0.00015
|
NM_001378454.1(ALMS1):c.6145T>A (p.Ser2049Thr)
|
rs17848882
|
0.00015
|
NM_001384474.1(LOXHD1):c.3951C>A (p.Val1317=)
|
rs779507390
|
0.00015
|
NM_001384474.1(LOXHD1):c.6777G>A (p.Lys2259=)
|
rs764655234
|
0.00015
|
NM_004006.3(DMD):c.1707C>T (p.Cys569=)
|
rs142029039
|
0.00015
|
NM_004006.3(DMD):c.2575A>T (p.Thr859Ser)
|
rs187926894
|
0.00015
|
NM_004006.3(DMD):c.9486G>A (p.Glu3162=)
|
rs370724251
|
0.00015
|
NM_004006.3(DMD):c.9649+8G>A
|
rs373703618
|
0.00015
|
NM_004646.4(NPHS1):c.1183G>A (p.Gly395Ser)
|
rs372069596
|
0.00015
|
NM_005609.4(PYGM):c.558C>T (p.Tyr186=)
|
rs144298015
|
0.00015
|
NM_006019.4(TCIRG1):c.942G>A (p.Thr314=)
|
rs764846667
|
0.00015
|
NM_017739.4(POMGNT1):c.796C>T (p.Arg266Trp)
|
rs200363064
|
0.00015
|
NM_019098.5(CNGB3):c.12G>A (p.Ser4=)
|
rs139284415
|
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_024301.5(FKRP):c.1405C>T (p.Leu469=)
|
rs143129484
|
0.00015
|
NM_138694.4(PKHD1):c.4854C>T (p.Ile1618=)
|
rs140674740
|
0.00015
|
NM_152443.3(RDH12):c.384A>G (p.Val128=)
|
rs139881477
|
0.00015
|
NM_152564.5(VPS13B):c.7434A>G (p.Ala2478=)
|
rs373550277
|
0.00015
|
NM_153717.3(EVC):c.105C>A (p.Gly35=)
|
rs745558003
|
0.00015
|
NM_206933.4(USH2A):c.1590A>T (p.Thr530=)
|
rs144343161
|
0.00015
|
NM_206933.4(USH2A):c.2460T>C (p.Asn820=)
|
rs781373128
|
0.00015
|
NM_206933.4(USH2A):c.9008T>C (p.Val3003Ala)
|
rs138574386
|
0.00015
|
NM_000022.4(ADA):c.591T>A (p.His197Gln)
|
rs142456343
|
0.00014
|
NM_000033.4(ABCD1):c.420C>A (p.Ile140=)
|
rs74315279
|
0.00014
|
NM_000051.4(ATM):c.3077+4G>A
|
rs201222237
|
0.00014
|
NM_000052.7(ATP7A):c.312A>G (p.Gln104=)
|
rs146414063
|
0.00014
|
NM_000091.5(COL4A3):c.3094T>C (p.Leu1032=)
|
rs372423505
|
0.00014
|
NM_000091.5(COL4A3):c.3751+7G>A
|
rs750554079
|
0.00014
|
NM_000094.4(COL7A1):c.3840C>T (p.Thr1280=)
|
rs369839378
|
0.00014
|
NM_000151.4(G6PC1):c.694G>A (p.Val232Ile)
|
rs145172999
|
0.00014
|
NM_000151.4(G6PC1):c.942C>G (p.Pro314=)
|
rs141352548
|
0.00014
|
NM_000152.5(GAA):c.1593C>T (p.Asp531=)
|
rs138732016
|
0.00014
|
NM_000152.5(GAA):c.2052G>A (p.Pro684=)
|
rs546463058
|
0.00014
|
NM_000166.6(GJB1):c.688C>T (p.Arg230Cys)
|
rs587781246
|
0.00014
|
NM_000231.3(SGCG):c.438C>T (p.Asp146=)
|
rs144497243
|
0.00014
|
NM_000246.4(CIITA):c.1230G>A (p.Pro410=)
|
rs199476069
|
0.00014
|
NM_000246.4(CIITA):c.1542G>A (p.Thr514=)
|
rs2228239
|
0.00014
|
NM_000246.4(CIITA):c.1791C>G (p.Leu597=)
|
rs201657235
|
0.00014
|
NM_000303.3(PMM2):c.634A>G (p.Met212Val)
|
rs3743808
|
0.00014
|
NM_000359.3(TGM1):c.216G>A (p.Gly72=)
|
rs771277378
|
0.00014
|
NM_000359.3(TGM1):c.540C>T (p.His180=)
|
rs145981439
|
0.00014
|
NM_000391.4(TPP1):c.330G>A (p.Lys110=)
|
rs145853102
|
0.00014
|
NM_000466.3(PEX1):c.159C>T (p.His53=)
|
rs200950057
|
0.00014
|
NM_001033855.3(DCLRE1C):c.1334G>A (p.Arg445His)
|
rs376186052
|
0.00014
|
NM_001079866.2(BCS1L):c.612C>T (p.Asp204=)
|
rs201726747
|
0.00014
|
NM_001079866.2(BCS1L):c.822G>A (p.Pro274=)
|
rs112329020
|
0.00014
|
NM_001122769.3(LCA5):c.1746C>T (p.Asn582=)
|
rs183011135
|
0.00014
|
NM_001122769.3(LCA5):c.222A>T (p.Pro74=)
|
rs148386543
|
0.00014
|
NM_001130987.2(DYSF):c.2622G>A (p.Leu874=)
|
rs191337920
|
0.00014
|
NM_001130987.2(DYSF):c.4389C>T (p.Asp1463=)
|
rs61746816
|
0.00014
|
NM_001130987.2(DYSF):c.5010C>T (p.Phe1670=)
|
rs151276652
|
0.00014
|
NM_001164508.2(NEB):c.7342C>T (p.Arg2448Cys)
|
rs576076237
|
0.00014
|
NM_001174089.2(SLC4A11):c.1575C>T (p.Gly525=)
|
rs367716152
|
0.00014
|
NM_001243279.3(ACSF3):c.120G>A (p.Ser40=)
|
rs34972688
|
0.00014
|
NM_001243279.3(ACSF3):c.1394A>G (p.Gln465Arg)
|
rs200971130
|
0.00014
|
NM_001283009.2(RTEL1):c.1713G>A (p.Glu571=)
|
rs141229183
|
0.00014
|
NM_001369.3(DNAH5):c.6018T>C (p.Cys2006=)
|
rs368456533
|
0.00014
|
NM_001378454.1(ALMS1):c.11953A>G (p.Ile3985Val)
|
rs201728850
|
0.00014
|
NM_002435.3(MPI):c.977C>G (p.Pro326Arg)
|
rs199956743
|
0.00014
|
NM_002617.4(PEX10):c.425G>A (p.Arg142Gln)
|
rs138843050
|
0.00014
|
NM_003060.4(SLC22A5):c.1440C>T (p.Phe480=)
|
rs150457229
|
0.00014
|
NM_003640.5(ELP1):c.1830C>T (p.Thr610=)
|
rs113048987
|
0.00014
|
NM_003640.5(ELP1):c.208C>T (p.Arg70Cys)
|
rs3737311
|
0.00014
|
NM_003640.5(ELP1):c.348T>C (p.Ser116=)
|
rs2230787
|
0.00014
|
NM_004004.6(GJB2):c.368C>A (p.Thr123Asn)
|
rs111033188
|
0.00014
|
NM_004006.3(DMD):c.1603-4C>A
|
rs377223643
|
0.00014
|
NM_004006.3(DMD):c.3816G>C (p.Leu1272Phe)
|
rs760733415
|
0.00014
|
NM_004006.3(DMD):c.4605G>A (p.Thr1535=)
|
rs374871728
|
0.00014
|
NM_004006.3(DMD):c.4876G>A (p.Val1626Met)
|
rs776998846
|
0.00014
|
NM_004006.3(DMD):c.7151C>A (p.Ser2384Tyr)
|
rs185706283
|
0.00014
|
NM_004006.3(DMD):c.7578G>A (p.Gln2526=)
|
rs142236825
|
0.00014
|
NM_004035.7(ACOX1):c.1695T>C (p.Tyr565=)
|
rs774049893
|
0.00014
|
NM_004629.2(FANCG):c.881G>A (p.Gly294Glu)
|
rs17880082
|
0.00014
|
NM_004646.4(NPHS1):c.1233C>T (p.Asn411=)
|
rs374218631
|
0.00014
|
NM_005476.7(GNE):c.21C>T (p.Asn7=)
|
rs774610596
|
0.00014
|
NM_012203.2(GRHPR):c.336C>T (p.Ala112=)
|
rs148778319
|
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_014363.6(SACS):c.9299C>A (p.Ser3100Tyr)
|
rs150615169
|
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_017739.4(POMGNT1):c.420G>A (p.Thr140=)
|
rs146237009
|
0.00014
|
NM_018941.4(CLN8):c.207G>A (p.Thr69=)
|
rs368365607
|
0.00014
|
NM_020533.3(MCOLN1):c.856C>A (p.His286Asn)
|
rs145191057
|
0.00014
|
NM_022124.6(CDH23):c.2891G>A (p.Arg964Gln)
|
rs376560330
|
0.00014
|
NM_024685.4(BBS10):c.372T>A (p.Ser124=)
|
rs143366878
|
0.00014
|
NM_025114.4(CEP290):c.3135A>G (p.Lys1045=)
|
rs370622537
|
0.00014
|
NM_025114.4(CEP290):c.3442C>G (p.Leu1148Val)
|
rs372190684
|
0.00014
|
NM_025216.3(WNT10A):c.775C>A (p.Arg259=)
|
rs576855744
|
0.00014
|
NM_032383.5(HPS3):c.1711C>T (p.His571Tyr)
|
rs142027515
|
0.00014
|
NM_033305.3(VPS13A):c.7273G>A (p.Val2425Ile)
|
rs189718498
|
0.00014
|
NM_033380.3(COL4A5):c.858T>C (p.Gly286=)
|
rs183837448
|
0.00014
|
NM_054012.4(ASS1):c.1165A>G (p.Thr389Ala)
|
rs145288815
|
0.00014
|
NM_054012.4(ASS1):c.858A>T (p.Ala286=)
|
rs201905628
|
0.00014
|
NM_057176.3(BSND):c.102C>T (p.Tyr34=)
|
rs141403253
|
0.00014
|
NM_138694.4(PKHD1):c.1848A>T (p.Ala616=)
|
rs776570716
|
0.00014
|
NM_138694.4(PKHD1):c.5093A>G (p.Asn1698Ser)
|
rs148108992
|
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_201253.3(CRB1):c.664G>A (p.Glu222Lys)
|
rs114846212
|
0.00014
|
NM_201525.4(ADGRG1):c.1188C>T (p.Asp396=)
|
rs368883473
|
0.00014
|
NM_201525.4(ADGRG1):c.1287-6G>A
|
rs112805221
|
0.00014
|
NM_206933.4(USH2A):c.12790G>A (p.Glu4264Lys)
|
rs200792578
|
0.00014
|
NM_000023.4(SGCA):c.408C>T (p.Ala136=)
|
rs143551687
|
0.00013
|
NM_000023.4(SGCA):c.819G>T (p.Pro273=)
|
rs35972733
|
0.00013
|
NM_000048.4(ASL):c.1056G>A (p.Thr352=)
|
rs745476328
|
0.00013
|
NM_000051.4(ATM):c.1773T>C (p.Asn591=)
|
rs61734356
|
0.00013
|
NM_000051.4(ATM):c.8671+9T>G
|
rs200190537
|
0.00013
|
NM_000057.4(BLM):c.4113G>A (p.Thr1371=)
|
rs61754135
|
0.00013
|
NM_000070.3(CAPN3):c.897C>A (p.Leu299=)
|
rs370313391
|
0.00013
|
NM_000071.3(CBS):c.133C>T (p.Arg45Trp)
|
rs201372812
|
0.00013
|
NM_000094.4(COL7A1):c.2277C>T (p.Gly759=)
|
rs144756110
|
0.00013
|
NM_000133.4(F9):c.250A>G (p.Thr84Ala)
|
rs201120367
|
0.00013
|
NM_000198.4(HSD3B2):c.308-8G>A
|
rs371712928
|
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_000237.3(LPL):c.528C>G (p.Val176=)
|
rs199606532
|
0.00013
|
NM_000246.4(CIITA):c.3003C>T (p.Asp1001=)
|
rs143497260
|
0.00013
|
NM_000274.4(OAT):c.736C>T (p.Leu246=)
|
rs146882296
|
0.00013
|
NM_000397.4(CYBB):c.675-4C>T
|
rs782223666
|
0.00013
|
NM_000489.6(ATRX):c.2650G>A (p.Glu884Lys)
|
rs200343648
|
0.00013
|
NM_000527.5(LDLR):c.1867A>G (p.Ile623Val)
|
rs555292896
|
0.00013
|
NM_000531.6(OTC):c.390A>G (p.Val130=)
|
rs149795059
|
0.00013
|
NM_001039958.2(MESP2):c.306C>A (p.His102Gln)
|
rs77473319
|
0.00013
|
NM_001164277.2(SLC37A4):c.1128C>T (p.Gly376=)
|
rs200713586
|
0.00013
|
NM_001164508.2(NEB):c.17898G>A (p.Pro5966=)
|
rs376655029
|
0.00013
|
NM_001174089.2(SLC4A11):c.2058C>G (p.Leu686=)
|
rs141079217
|
0.00013
|
NM_001369.3(DNAH5):c.2760A>G (p.Gly920=)
|
rs763731693
|
0.00013
|
NM_001378454.1(ALMS1):c.10218C>T (p.Ser3406=)
|
rs754938453
|
0.00013
|
NM_001384474.1(LOXHD1):c.5584C>T (p.Arg1862Trp)
|
rs201994383
|
0.00013
|
NM_002437.5(MPV17):c.61C>G (p.Leu21Val)
|
rs200504529
|
0.00013
|
NM_002454.3(MTRR):c.138A>G (p.Leu46=)
|
rs200682655
|
0.00013
|
NM_003227.4(TFR2):c.1863C>T (p.Ala621=)
|
rs374489702
|
0.00013
|
NM_003640.5(ELP1):c.-64G>A
|
rs575166769
|
0.00013
|
NM_003907.3(EIF2B5):c.1920C>T (p.Ala640=)
|
rs149329097
|
0.00013
|
NM_003982.4(SLC7A7):c.339A>C (p.Gly113=)
|
rs139270936
|
0.00013
|
NM_004006.3(DMD):c.7085C>A (p.Pro2362Gln)
|
rs141151675
|
0.00013
|
NM_004006.3(DMD):c.7244G>A (p.Arg2415His)
|
rs373749120
|
0.00013
|
NM_004006.3(DMD):c.7988C>G (p.Thr2663Arg)
|
rs144103124
|
0.00013
|
NM_004006.3(DMD):c.8027+7A>T
|
rs72466580
|
0.00013
|
NM_004006.3(DMD):c.821A>G (p.Tyr274Cys)
|
rs745868830
|
0.00013
|
NM_004006.3(DMD):c.8706G>A (p.Arg2902=)
|
rs899851642
|
0.00013
|
NM_005476.7(GNE):c.804G>A (p.Lys268=)
|
rs141814943
|
0.00013
|
NM_006623.4(PHGDH):c.743C>T (p.Ala248Val)
|
rs201782441
|
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_014363.6(SACS):c.9399A>G (p.Lys3133=)
|
rs762665640
|
0.00013
|
NM_014844.5(TECPR2):c.1248C>T (p.Thr416=)
|
rs144313788
|
0.00013
|
NM_019098.5(CNGB3):c.1833C>T (p.His611=)
|
rs368787128
|
0.00013
|
NM_019098.5(CNGB3):c.715C>T (p.Arg239Cys)
|
rs200019416
|
0.00013
|
NM_020533.3(MCOLN1):c.216G>A (p.Lys72=)
|
rs369176493
|
0.00013
|
NM_022124.6(CDH23):c.5055C>T (p.Ile1685=)
|
rs377269771
|
0.00013
|
NM_033305.3(VPS13A):c.126A>G (p.Gln42=)
|
rs140518771
|
0.00013
|
NM_033305.3(VPS13A):c.2496A>T (p.Pro832=)
|
rs148754839
|
0.00013
|
NM_033305.3(VPS13A):c.5047A>G (p.Thr1683Ala)
|
rs371138709
|
0.00013
|
NM_033380.3(COL4A5):c.3251A>C (p.Glu1084Ala)
|
rs146873772
|
0.00013
|
NM_054012.4(ASS1):c.549G>A (p.Glu183=)
|
rs747401210
|
0.00013
|
NM_057176.3(BSND):c.16A>G (p.Thr6Ala)
|
rs201342416
|
0.00013
|
NM_133259.4(LRPPRC):c.2392T>C (p.Leu798=)
|
rs373554506
|
0.00013
|
NM_000033.4(ABCD1):c.2202G>A (p.Pro734=)
|
rs782093609
|
0.00012
|
NM_000133.4(F9):c.768C>T (p.Ile256=)
|
rs758909063
|
0.00012
|
NM_000137.4(FAH):c.1077C>T (p.Phe359=)
|
rs145570259
|
0.00012
|
NM_000151.4(G6PC1):c.948C>A (p.Ser316=)
|
rs137978566
|
0.00012
|
NM_000154.2(GALK1):c.1044C>T (p.Phe348=)
|
rs372653001
|
0.00012
|
NM_000195.5(HPS1):c.1409C>T (p.Ala470Val)
|
rs768146409
|
0.00012
|
NM_000246.4(CIITA):c.648G>A (p.Ser216=)
|
rs374843831
|
0.00012
|
NM_000359.3(TGM1):c.885C>T (p.His295=)
|
rs186352813
|
0.00012
|
NM_000360.4(TH):c.91-896G>A
|
rs376736869
|
0.00012
|
NM_000390.4(CHM):c.1713C>T (p.Asn571=)
|
rs142340268
|
0.00012
|
NM_000397.4(CYBB):c.969A>G (p.Gln323=)
|
rs144764222
|
0.00012
|
NM_000466.3(PEX1):c.3198T>C (p.Ser1066=)
|
rs150190899
|
0.00012
|
NM_000481.4(AMT):c.961G>A (p.Val321Met)
|
rs149457059
|
0.00012
|
NM_000489.6(ATRX):c.7256A>G (p.Asn2419Ser)
|
rs781853125
|
0.00012
|
NM_000531.6(OTC):c.534G>A (p.Thr178=)
|
rs775895740
|
0.00012
|
NM_000784.4(CYP27A1):c.578G>A (p.Arg193Gln)
|
rs181649030
|
0.00012
|
NM_001113525.2(ZNF276):c.*1313A>G
|
rs368376237
|
0.00012
|
NM_001122769.3(LCA5):c.1260G>A (p.Lys420=)
|
rs141642284
|
0.00012
|
NM_001130987.2(DYSF):c.5094C>T (p.Ile1698=)
|
rs149087116
|
0.00012
|
NM_001142800.2(EYS):c.2199C>T (p.Asp733=)
|
rs769923713
|
0.00012
|
NM_001164508.2(NEB):c.780A>G (p.Pro260=)
|
rs80255720
|
0.00012
|
NM_001283009.2(RTEL1):c.3407C>G (p.Thr1136Ser)
|
rs150686112
|
0.00012
|
NM_001360.3(DHCR7):c.1410G>A (p.Leu470=)
|
rs375993195
|
0.00012
|
NM_001378454.1(ALMS1):c.4204A>G (p.Thr1402Ala)
|
rs199649563
|
0.00012
|
NM_001399.5(EDA):c.390G>T (p.Gly130=)
|
rs143746851
|
0.00012
|
NM_001673.5(ASNS):c.288G>A (p.Val96=)
|
rs554805942
|
0.00012
|
NM_003227.4(TFR2):c.1305A>G (p.Ala435=)
|
rs372014293
|
0.00012
|
NM_003384.3(VRK1):c.759A>G (p.Gln253=)
|
rs150534939
|
0.00012
|
NM_003640.5(ELP1):c.2205-7C>T
|
rs148221146
|
0.00012
|
NM_003742.4(ABCB11):c.2036C>T (p.Ala679Val)
|
rs200912109
|
0.00012
|
NM_004004.6(GJB2):c.120A>C (p.Ala40=)
|
rs561870637
|
0.00012
|
NM_004006.3(DMD):c.2352T>C (p.Ala784=)
|
rs142006072
|
0.00012
|
NM_004006.3(DMD):c.9033G>A (p.Pro3011=)
|
rs774722438
|
0.00012
|
NM_004006.3(DMD):c.9479G>A (p.Arg3160His)
|
rs771392678
|
0.00012
|
NM_004937.3(CTNS):c.480C>T (p.Phe160=)
|
rs147565118
|
0.00012
|
NM_014140.4(SMARCAL1):c.1443C>T (p.Leu481=)
|
rs751122020
|
0.00012
|
NM_014363.6(SACS):c.4998A>G (p.Thr1666=)
|
rs184994682
|
0.00012
|
NM_019098.5(CNGB3):c.459A>C (p.Gly153=)
|
rs149945278
|
0.00012
|
NM_022124.6(CDH23):c.2235C>T (p.Ile745=)
|
rs368841307
|
0.00012
|
NM_024312.5(GNPTAB):c.2028G>A (p.Pro676=)
|
rs192607073
|
0.00012
|
NM_025114.4(CEP290):c.1667T>A (p.Ile556Asn)
|
rs727503854
|
0.00012
|
NM_031885.5(BBS2):c.1157C>T (p.Thr386Met)
|
rs138314289
|
0.00012
|
NM_033159.4(HYAL1):c.1041C>T (p.Phe347=)
|
rs377105091
|
0.00012
|
NM_033380.3(COL4A5):c.2571A>G (p.Gly857=)
|
rs41311553
|
0.00012
|
NM_033380.3(COL4A5):c.4315+9A>T
|
rs764116323
|
0.00012
|
NM_130849.4(SLC39A4):c.591C>T (p.His197=)
|
rs200819089
|
0.00012
|
NM_138694.4(PKHD1):c.10797C>T (p.His3599=)
|
rs577357613
|
0.00012
|
NM_138694.4(PKHD1):c.3090G>A (p.Ala1030=)
|
rs557162970
|
0.00012
|
NM_138694.4(PKHD1):c.3804C>T (p.Ala1268=)
|
rs201769990
|
0.00012
|
NM_138694.4(PKHD1):c.5910G>A (p.Gly1970=)
|
rs200730851
|
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_153006.3(NAGS):c.939C>T (p.Pro313=)
|
rs749692636
|
0.00012
|
NM_000018.4(ACADVL):c.*8C>T
|
rs370513576
|
0.00011
|
NM_000030.3(AGXT):c.1111G>A (p.Glu371Lys)
|
rs369664123
|
0.00011
|
NM_000030.3(AGXT):c.885G>A (p.Ala295=)
|
rs377132245
|
0.00011
|
NM_000051.4(ATM):c.2346A>G (p.Leu782=)
|
rs730881285
|
0.00011
|
NM_000053.4(ATP7B):c.1839C>T (p.Ile613=)
|
rs370476756
|
0.00011
|
NM_000053.4(ATP7B):c.3396C>T (p.Ser1132=)
|
rs370947152
|
0.00011
|
NM_000057.4(BLM):c.1086C>T (p.Asp362=)
|
rs375632163
|
0.00011
|
NM_000070.3(CAPN3):c.1521C>T (p.Tyr507=)
|
rs370231427
|
0.00011
|
NM_000070.3(CAPN3):c.47A>C (p.Glu16Ala)
|
rs775742866
|
0.00011
|
NM_000091.5(COL4A3):c.4449C>T (p.His1483=)
|
rs140672401
|
0.00011
|
NM_000092.5(COL4A4):c.3531C>T (p.Asn1177=)
|
rs201699649
|
0.00011
|
NM_000094.4(COL7A1):c.8094C>T (p.Gly2698=)
|
rs199936185
|
0.00011
|
NM_000094.4(COL7A1):c.945C>T (p.Ile315=)
|
rs761431565
|
0.00011
|
NM_000098.3(CPT2):c.1428G>A (p.Leu476=)
|
rs149557870
|
0.00011
|
NM_000098.3(CPT2):c.45G>T (p.Ala15=)
|
rs761850684
|
0.00011
|
NM_000133.4(F9):c.1143A>G (p.Thr381=)
|
rs761784613
|
0.00011
|
NM_000133.4(F9):c.114C>T (p.Asn38=)
|
rs745353370
|
0.00011
|
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_000137.4(FAH):c.996C>T (p.His332=)
|
rs182877963
|
0.00011
|
NM_000158.4(GBE1):c.1722T>C (p.Leu574=)
|
rs367905308
|
0.00011
|
NM_000159.4(GCDH):c.552C>T (p.Ser184=)
|
rs144887422
|
0.00011
|
NM_000169.3(GLA):c.48T>G (p.Leu16=)
|
rs201449986
|
0.00011
|
NM_000170.3(GLDC):c.1926+6T>C
|
rs200007891
|
0.00011
|
NM_000198.4(HSD3B2):c.423C>T (p.His141=)
|
rs751470493
|
0.00011
|
NM_000198.4(HSD3B2):c.681C>T (p.Asn227=)
|
rs587675471
|
0.00011
|
NM_000203.5(IDUA):c.76G>A (p.Ala26Thr)
|
rs746809894
|
0.00011
|
NM_000206.3(IL2RG):c.1002G>A (p.Glu334=)
|
rs376679881
|
0.00011
|
NM_000246.4(CIITA):c.2405G>A (p.Arg802Gln)
|
rs201182990
|
0.00011
|
NM_000246.4(CIITA):c.300A>G (p.Glu100=)
|
rs578099843
|
0.00011
|
NM_000252.3(MTM1):c.176T>C (p.Ile59Thr)
|
rs782217375
|
0.00011
|
NM_000260.4(MYO7A):c.1358G>A (p.Cys453Tyr)
|
rs202080237
|
0.00011
|
NM_000260.4(MYO7A):c.639C>T (p.Phe213=)
|
rs540197003
|
0.00011
|
NM_000271.5(NPC1):c.1431G>A (p.Thr477=)
|
rs375307057
|
0.00011
|
NM_000271.5(NPC1):c.501A>G (p.Ser167=)
|
rs202148667
|
0.00011
|
NM_000288.4(PEX7):c.695G>A (p.Arg232Gln)
|
rs191969418
|
0.00011
|
NM_000360.4(TH):c.1383G>A (p.Pro461=)
|
rs552808212
|
0.00011
|
NM_000383.4(AIRE):c.1158C>T (p.Ala386=)
|
rs199555518
|
0.00011
|
NM_000383.4(AIRE):c.1200G>A (p.Pro400=)
|
rs377627680
|
0.00011
|
NM_000383.4(AIRE):c.372G>A (p.Pro124=)
|
rs775117249
|
0.00011
|
NM_000383.4(AIRE):c.705G>A (p.Lys235=)
|
rs145255118
|
0.00011
|
NM_000414.4(HSD17B4):c.1317A>G (p.Val439=)
|
rs771922933
|
0.00011
|
NM_000478.6(ALPL):c.1014C>T (p.His338=)
|
rs147688908
|
0.00011
|
NM_000487.6(ARSA):c.972C>T (p.Ile324=)
|
rs200567315
|
0.00011
|
NM_000489.6(ATRX):c.820T>C (p.Leu274=)
|
rs146012355
|
0.00011
|
NM_000492.4(CFTR):c.738G>A (p.Lys246=)
|
rs35033453
|
0.00011
|
NM_000543.5(SMPD1):c.349G>A (p.Val117Met)
|
rs202206564
|
0.00011
|
NM_000543.5(SMPD1):c.534C>T (p.Ile178=)
|
rs142147633
|
0.00011
|
NM_000543.5(SMPD1):c.909A>G (p.Ala303=)
|
rs201134693
|
0.00011
|
NM_000642.3(AGL):c.3231G>A (p.Lys1077=)
|
rs138063386
|
0.00011
|
NM_001017420.3(ESCO2):c.325T>C (p.Cys109Arg)
|
rs199653554
|
0.00011
|
NM_001126108.2(SLC12A3):c.1453G>A (p.Glu485Lys)
|
rs201804135
|
0.00011
|
NM_001130987.2(DYSF):c.5884+6C>T
|
rs144355449
|
0.00011
|
NM_001164508.2(NEB):c.13661G>A (p.Ser4554Asn)
|
rs1057522021
|
0.00011
|
NM_001174089.2(SLC4A11):c.2388+7G>A
|
rs117959552
|
0.00011
|
NM_001283009.2(RTEL1):c.2987C>A (p.Pro996His)
|
rs373210484
|
0.00011
|
NM_001352514.2(HLCS):c.951C>T (p.Ser317=)
|
rs185480832
|
0.00011
|
NM_001365088.1(SLC12A6):c.319G>A (p.Asp107Asn)
|
rs781088641
|
0.00011
|
NM_001370658.1(BTD):c.603C>T (p.Phe201=)
|
rs142418812
|
0.00011
|
NM_001378454.1(ALMS1):c.1701A>G (p.Thr567=)
|
rs184736482
|
0.00011
|
NM_002076.4(GNS):c.577C>T (p.Arg193Trp)
|
rs144220755
|
0.00011
|
NM_002435.3(MPI):c.378G>A (p.Pro126=)
|
rs752948071
|
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_003640.5(ELP1):c.1704A>G (p.Ser568=)
|
rs138192941
|
0.00011
|
NM_003659.4(AGPS):c.157C>T (p.Leu53=)
|
rs77810072
|
0.00011
|
NM_003907.3(EIF2B5):c.196-9A>C
|
rs374801184
|
0.00011
|
NM_004006.3(DMD):c.*15A>G
|
rs149405184
|
0.00011
|
NM_005629.4(SLC6A8):c.1533C>T (p.Ile511=)
|
rs782114947
|
0.00011
|
NM_005957.5(MTHFR):c.726A>G (p.Ala242=)
|
rs45459991
|
0.00011
|
NM_006096.4(NDRG1):c.285C>T (p.Asp95=)
|
rs777855380
|
0.00011
|
NM_013339.4(ALG6):c.1032T>C (p.His344=)
|
rs146265933
|
0.00011
|
NM_014140.4(SMARCAL1):c.1776G>A (p.Thr592=)
|
rs372995559
|
0.00011
|
NM_014249.4(NR2E3):c.51G>A (p.Ala17=)
|
rs753463414
|
0.00011
|
NM_014251.3(SLC25A13):c.1170G>T (p.Leu390=)
|
rs377724262
|
0.00011
|
NM_014363.6(SACS):c.12451C>T (p.Leu4151=)
|
rs780701057
|
0.00011
|
NM_014363.6(SACS):c.5841C>T (p.Pro1947=)
|
rs145371235
|
0.00011
|
NM_014844.5(TECPR2):c.3882C>T (p.Thr1294=)
|
rs145556234
|
0.00011
|
NM_015506.3(MMACHC):c.783G>A (p.Gly261=)
|
rs776623221
|
0.00011
|
NM_017777.4(MKS1):c.1601G>A (p.Arg534Gln)
|
rs199910690
|
0.00011
|
NM_017777.4(MKS1):c.1609C>T (p.Arg537Cys)
|
rs35464956
|
0.00011
|
NM_023036.6(DNAI2):c.1776G>A (p.Ala592=)
|
rs200861036
|
0.00011
|
NM_024120.5(NDUFAF5):c.9G>A (p.Arg3=)
|
rs201860210
|
0.00011
|
NM_024649.5(BBS1):c.981C>T (p.Pro327=)
|
rs142243482
|
0.00011
|
NM_025215.6(PUS1):c.1266G>A (p.Gly422=)
|
rs201441662
|
0.00011
|
NM_033305.3(VPS13A):c.846G>A (p.Glu282=)
|
rs376954549
|
0.00011
|
NM_130849.4(SLC39A4):c.294C>T (p.Ala98=)
|
rs376920807
|
0.00011
|
NM_138413.4(HOGA1):c.594C>T (p.Ser198=)
|
rs374733151
|
0.00011
|
NM_138694.4(PKHD1):c.7091T>A (p.Ile2364Asn)
|
rs76260483
|
0.00011
|
NM_138694.4(PKHD1):c.8107+8T>G
|
rs368339881
|
0.00011
|
NM_152564.5(VPS13B):c.10258G>A (p.Val3420Met)
|
rs191174682
|
0.00011
|
NM_201253.3(CRB1):c.2714G>A (p.Arg905Gln)
|
rs114052315
|
0.00011
|
NM_206933.4(USH2A):c.10341C>T (p.Ala3447=)
|
rs372015149
|
0.00011
|
NM_206933.4(USH2A):c.8342C>T (p.Thr2781Ile)
|
rs143240767
|
0.00011
|
NM_000023.4(SGCA):c.320C>T (p.Ala107Val)
|
rs186669379
|
0.00010
|
NM_000033.4(ABCD1):c.108G>A (p.Val36=)
|
rs368718078
|
0.00010
|
NM_000033.4(ABCD1):c.1245C>T (p.Tyr415=)
|
rs782742220
|
0.00010
|
NM_000046.5(ARSB):c.204C>A (p.Arg68=)
|
rs559187375
|
0.00010
|
NM_000051.4(ATM):c.6382T>C (p.Leu2128=)
|
rs753646931
|
0.00010
|
NM_000051.4(ATM):c.7494T>C (p.Ser2498=)
|
rs34393781
|
0.00010
|
NM_000052.7(ATP7A):c.1000G>A (p.Ala334Thr)
|
rs368622356
|
0.00010
|
NM_000053.4(ATP7B):c.4162G>A (p.Ala1388Thr)
|
rs745866259
|
0.00010
|
NM_000057.4(BLM):c.2598A>T (p.Val866=)
|
rs574053990
|
0.00010
|
NM_000057.4(BLM):c.3426C>T (p.Ala1142=)
|
rs147148171
|
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_000080.4(CHRNE):c.710G>T (p.Arg237Leu)
|
rs201434993
|
0.00010
|
NM_000092.5(COL4A4):c.3705A>G (p.Pro1235=)
|
rs752638078
|
0.00010
|
NM_000094.4(COL7A1):c.520+9C>T
|
rs368959634
|
0.00010
|
NM_000094.4(COL7A1):c.6500C>T (p.Pro2167Leu)
|
rs200473808
|
0.00010
|
NM_000094.4(COL7A1):c.8095G>A (p.Glu2699Lys)
|
rs200938473
|
0.00010
|
NM_000098.3(CPT2):c.1251C>T (p.Phe417=)
|
rs576822710
|
0.00010
|
NM_000108.5(DLD):c.876-6A>T
|
rs199944006
|
0.00010
|
NM_000133.4(F9):c.769G>A (p.Val257Ile)
|
rs200608775
|
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_000152.5(GAA):c.1920T>G (p.Pro640=)
|
rs144090460
|
0.00010
|
NM_000152.5(GAA):c.2319C>T (p.Tyr773=)
|
rs377402848
|
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_000206.3(IL2RG):c.912C>T (p.His304=)
|
rs145282692
|
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_000330.4(RS1):c.88G>A (p.Glu30Lys)
|
rs146477940
|
0.00010
|
NM_000359.3(TGM1):c.297A>G (p.Ala99=)
|
rs41295340
|
0.00010
|
NM_000489.6(ATRX):c.6871A>G (p.Ile2291Val)
|
rs374244026
|
0.00010
|
NM_000517.6(HBA2):c.375C>G (p.Ser125=)
|
rs775058691
|
0.00010
|
NM_000709.4(BCKDHA):c.159G>C (p.Gln53His)
|
rs775471043
|
0.00010
|
NM_000784.4(CYP27A1):c.792G>A (p.Val264=)
|
rs144018609
|
0.00010
|
NM_001127671.2(LIFR):c.2280G>A (p.Leu760=)
|
rs370455274
|
0.00010
|
NM_001127671.2(LIFR):c.2886C>T (p.Ala962=)
|
rs775970749
|
0.00010
|
NM_001130987.2(DYSF):c.1149T>G (p.Pro383=)
|
rs199955501
|
0.00010
|
NM_001164508.2(NEB):c.1182A>C (p.Thr394=)
|
rs186233985
|
0.00010
|
NM_001164508.2(NEB):c.19751T>G (p.Met6584Arg)
|
rs190605644
|
0.00010
|
NM_001174089.2(SLC4A11):c.1992C>T (p.Ala664=)
|
rs146674129
|
0.00010
|
NM_001174089.2(SLC4A11):c.789C>T (p.Ile263=)
|
rs367721824
|
0.00010
|
NM_001201543.2(FAM161A):c.1959G>T (p.Glu653Asp)
|
rs201052209
|
0.00010
|
NM_001243279.3(ACSF3):c.312C>T (p.Asn104=)
|
rs749994320
|
0.00010
|
NM_001283009.2(RTEL1):c.2721G>A (p.Leu907=)
|
rs763364387
|
0.00010
|
NM_001352514.2(HLCS):c.2512G>A (p.Asp838Asn)
|
rs139697458
|
0.00010
|
NM_001352514.2(HLCS):c.462G>A (p.Met154Ile)
|
rs183589811
|
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_001369.3(DNAH5):c.13410G>A (p.Ser4470=)
|
rs368920785
|
0.00010
|
NM_001369.3(DNAH5):c.2400G>A (p.Glu800=)
|
rs199951976
|
0.00010
|
NM_001384140.1(PCDH15):c.3951C>T (p.Thr1317=)
|
rs144955298
|
0.00010
|
NM_001384474.1(LOXHD1):c.3144C>A (p.Gly1048=)
|
rs141514234
|
0.00010
|
NM_001386140.1(MTTP):c.1149T>C (p.Ser383=)
|
rs374820674
|
0.00010
|
NM_001876.4(CPT1A):c.1092G>A (p.Gln364=)
|
rs199640034
|
0.00010
|
NM_001876.4(CPT1A):c.390C>T (p.Leu130=)
|
rs188016546
|
0.00010
|
NM_003227.4(TFR2):c.1076T>A (p.Ile359Asn)
|
rs140020076
|
0.00010
|
NM_003227.4(TFR2):c.120C>T (p.Asp40=)
|
rs370005999
|
0.00010
|
NM_003640.5(ELP1):c.3750A>G (p.Glu1250=)
|
rs149038322
|
0.00010
|
NM_003907.3(EIF2B5):c.840G>A (p.Glu280=)
|
rs138820746
|
0.00010
|
NM_004004.6(GJB2):c.675A>T (p.Pro225=)
|
rs563151740
|
0.00010
|
NM_004006.3(DMD):c.3432+10A>G
|
rs746260475
|
0.00010
|
NM_004006.3(DMD):c.3794G>C (p.Trp1265Ser)
|
rs200213555
|
0.00010
|
NM_004006.3(DMD):c.5026-7A>G
|
rs398123976
|
0.00010
|
NM_004006.3(DMD):c.5048C>G (p.Thr1683Ser)
|
rs146420425
|
0.00010
|
NM_004006.3(DMD):c.606C>T (p.Ile202=)
|
rs138335295
|
0.00010
|
NM_004006.3(DMD):c.6143G>A (p.Ser2048Asn)
|
rs200494003
|
0.00010
|
NM_004006.3(DMD):c.6414T>C (p.His2138=)
|
rs753999355
|
0.00010
|
NM_004006.3(DMD):c.6614+8G>A
|
rs377508818
|
0.00010
|
NM_004006.3(DMD):c.7323T>C (p.Thr2441=)
|
rs201919981
|
0.00010
|
NM_004006.3(DMD):c.7596C>T (p.Thr2532=)
|
rs778412539
|
0.00010
|
NM_004006.3(DMD):c.8852G>A (p.Arg2951His)
|
rs72466567
|
0.00010
|
NM_004629.2(FANCG):c.722C>T (p.Pro241Leu)
|
rs201438531
|
0.00010
|
NM_005055.5(RAPSN):c.864G>A (p.Ala288=)
|
rs147966227
|
0.00010
|
NM_005609.4(PYGM):c.606C>T (p.His202=)
|
rs79860859
|
0.00010
|
NM_006118.4(HAX1):c.505-4G>A
|
rs186219647
|
0.00010
|
NM_006261.5(PROP1):c.311G>A (p.Arg104Gln)
|
rs369390421
|
0.00010
|
NM_007259.5(VPS45):c.897A>G (p.Pro299=)
|
rs184193549
|
0.00010
|
NM_012243.3(SLC35A3):c.483G>A (p.Gln161=)
|
rs370315911
|
0.00010
|
NM_014140.4(SMARCAL1):c.1533C>T (p.Val511=)
|
rs142314193
|
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_014249.4(NR2E3):c.372G>A (p.Pro124=)
|
rs561598022
|
0.00010
|
NM_014363.6(SACS):c.1464G>A (p.Pro488=)
|
rs375352514
|
0.00010
|
NM_015166.4(MLC1):c.95C>T (p.Ala32Val)
|
rs200382943
|
0.00010
|
NM_015272.5(RPGRIP1L):c.2683+7C>T
|
rs768922800
|
0.00010
|
NM_022124.6(CDH23):c.3186C>A (p.Thr1062=)
|
rs201589645
|
0.00010
|
NM_022124.6(CDH23):c.4704C>T (p.Thr1568=)
|
rs186866326
|
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_024685.4(BBS10):c.1590A>C (p.Arg530Ser)
|
rs146812823
|
0.00010
|
NM_025215.6(PUS1):c.111C>T (p.Pro37=)
|
rs543944505
|
0.00010
|
NM_032383.5(HPS3):c.2469A>G (p.Thr823=)
|
rs370137287
|
0.00010
|
NM_032520.5(GNPTG):c.479C>T (p.Ala160Val)
|
rs374470431
|
0.00010
|
NM_033305.3(VPS13A):c.2889G>A (p.Thr963=)
|
rs776098236
|
0.00010
|
NM_033380.3(COL4A5):c.4217-6C>T
|
rs764326196
|
0.00010
|
NM_033380.3(COL4A5):c.568A>G (p.Ile190Val)
|
rs367890539
|
0.00010
|
NM_033380.3(COL4A5):c.861G>A (p.Glu287=)
|
rs41300173
|
0.00010
|
NM_130849.4(SLC39A4):c.297C>T (p.Ala99=)
|
rs369212608
|
0.00010
|
NM_133259.4(LRPPRC):c.888C>T (p.Ser296=)
|
rs762093225
|
0.00010
|
NM_138413.4(HOGA1):c.934G>A (p.Ala312Thr)
|
rs115431683
|
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_182894.3(VSX2):c.564G>A (p.Pro188=)
|
rs201354547
|
0.00010
|
NM_201253.3(CRB1):c.3171C>T (p.Asn1057=)
|
rs62636284
|
0.00010
|
NM_206933.4(USH2A):c.14892C>T (p.Tyr4964=)
|
rs149877542
|
0.00010
|
NM_206933.4(USH2A):c.4445C>T (p.Thr1482Ile)
|
rs200790812
|
0.00010
|
NM_206933.4(USH2A):c.8760G>A (p.Thr2920=)
|
rs200525258
|
0.00010
|
NM_000018.4(ACADVL):c.114G>C (p.Arg38=)
|
rs777380964
|
0.00009
|
NM_000022.4(ADA):c.192G>A (p.Lys64=)
|
rs144168646
|
0.00009
|
NM_000033.4(ABCD1):c.2079G>A (p.Thr693=)
|
rs781935761
|
0.00009
|
NM_000051.4(ATM):c.5005+7_5005+8del
|
rs587780626
|
0.00009
|
NM_000053.4(ATP7B):c.2028C>T (p.Asn676=)
|
rs764441090
|
0.00009
|
NM_000057.4(BLM):c.2293G>A (p.Val765Ile)
|
rs191789336
|
0.00009
|
NM_000057.4(BLM):c.2739C>T (p.Leu913=)
|
rs759223856
|
0.00009
|
NM_000070.3(CAPN3):c.2269C>T (p.His757Tyr)
|
rs148246325
|
0.00009
|
NM_000092.5(COL4A4):c.2171G>A (p.Arg724His)
|
rs200146486
|
0.00009
|
NM_000094.4(COL7A1):c.3432C>T (p.Tyr1144=)
|
rs199679633
|
0.00009
|
NM_000102.4(CYP17A1):c.32C>T (p.Thr11Ile)
|
rs72559703
|
0.00009
|
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_000152.5(GAA):c.1482A>G (p.Thr494=)
|
rs202064115
|
0.00009
|
NM_000152.5(GAA):c.1818C>T (p.His606=)
|
rs374368644
|
0.00009
|
NM_000152.5(GAA):c.664G>A (p.Val222Met)
|
rs374569672
|
0.00009
|
NM_000154.2(GALK1):c.60C>T (p.Phe20=)
|
rs556192480
|
0.00009
|
NM_000169.3(GLA):c.945C>T (p.Asp315=)
|
rs151208856
|
0.00009
|
NM_000182.5(HADHA):c.2147-8C>G
|
rs368976628
|
0.00009
|
NM_000195.5(HPS1):c.179C>T (p.Thr60Met)
|
rs200004304
|
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_000206.3(IL2RG):c.459C>T (p.Ile153=)
|
rs150560580
|
0.00009
|
NM_000206.3(IL2RG):c.86C>T (p.Thr29Met)
|
rs375921454
|
0.00009
|
NM_000231.3(SGCG):c.497G>A (p.Arg166Gln)
|
rs776289036
|
0.00009
|
NM_000260.4(MYO7A):c.2316A>G (p.Thr772=)
|
rs369466539
|
0.00009
|
NM_000260.4(MYO7A):c.3987C>T (p.Tyr1329=)
|
rs560284703
|
0.00009
|
NM_000260.4(MYO7A):c.4442-7G>A
|
rs372023062
|
0.00009
|
NM_000260.4(MYO7A):c.549G>A (p.Ser183=)
|
rs188198404
|
0.00009
|
NM_000271.5(NPC1):c.2775C>T (p.Asn925=)
|
rs147419225
|
0.00009
|
NM_000284.4(PDHA1):c.1114G>A (p.Asp372Asn)
|
rs199879809
|
0.00009
|
NM_000289.6(PFKM):c.2040C>T (p.Gly680=)
|
rs369893708
|
0.00009
|
NM_000329.3(RPE65):c.295G>A (p.Val99Ile)
|
rs143056561
|
0.00009
|
NM_000352.6(ABCC8):c.3039G>A (p.Ser1013=)
|
rs17846762
|
0.00009
|
NM_000359.3(TGM1):c.177C>T (p.Asp59=)
|
rs8193031
|
0.00009
|
NM_000360.4(TH):c.51C>T (p.Ala17=)
|
rs199645400
|
0.00009
|
NM_000383.4(AIRE):c.615C>T (p.Ala205=)
|
rs143784684
|
0.00009
|
NM_000396.4(CTSK):c.22C>T (p.Leu8=)
|
rs138360770
|
0.00009
|
NM_000396.4(CTSK):c.244-10_244-8del
|
rs774922287
|
0.00009
|
NM_000397.4(CYBB):c.142-12C>T
|
rs13306298
|
0.00009
|
NM_000481.4(AMT):c.589G>C (p.Asp197His)
|
rs200550585
|
0.00009
|
NM_000487.6(ARSA):c.1297C>G (p.Leu433Val)
|
rs201693608
|
0.00009
|
NM_000489.6(ATRX):c.3065G>A (p.Arg1022Gln)
|
rs781811015
|
0.00009
|
NM_000492.4(CFTR):c.3564G>A (p.Ser1188=)
|
rs146804928
|
0.00009
|
NM_000528.4(MAN2B1):c.789G>A (p.Pro263=)
|
rs149484019
|
0.00009
|
NM_000531.6(OTC):c.675G>A (p.Pro225=)
|
rs376129619
|
0.00009
|
NM_000642.3(AGL):c.1602C>T (p.His534=)
|
rs563472929
|
0.00009
|
NM_000709.4(BCKDHA):c.1252G>A (p.Ala418Thr)
|
rs368567109
|
0.00009
|
NM_001039958.2(MESP2):c.168T>G (p.Pro56=)
|
rs894593728
|
0.00009
|
NM_001127671.2(LIFR):c.2591+6A>T
|
rs372291945
|
0.00009
|
NM_001130987.2(DYSF):c.2700T>C (p.Tyr900=)
|
rs149979662
|
0.00009
|
NM_001130987.2(DYSF):c.2883C>T (p.Asp961=)
|
rs143775913
|
0.00009
|
NM_001130987.2(DYSF):c.690C>T (p.Pro230=)
|
rs376293526
|
0.00009
|
NM_001142800.2(EYS):c.8181C>T (p.Leu2727=)
|
rs369121423
|
0.00009
|
NM_001164508.2(NEB):c.9345C>T (p.His3115=)
|
rs367739638
|
0.00009
|
NM_001283009.2(RTEL1):c.1626G>A (p.Gly542=)
|
rs140629792
|
0.00009
|
NM_001283009.2(RTEL1):c.2508C>T (p.Ala836=)
|
rs147245368
|
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_001369.3(DNAH5):c.12123A>C (p.Pro4041=)
|
rs149580135
|
0.00009
|
NM_001378454.1(ALMS1):c.11867A>G (p.His3956Arg)
|
rs553786370
|
0.00009
|
NM_001384140.1(PCDH15):c.2619A>G (p.Glu873=)
|
rs150784450
|
0.00009
|
NM_001384140.1(PCDH15):c.2751+9T>C
|
rs180804907
|
0.00009
|
NM_001384474.1(LOXHD1):c.6666G>A (p.Glu2222=)
|
rs1030153414
|
0.00009
|
NM_001384474.1(LOXHD1):c.834C>T (p.Asp278=)
|
rs112969644
|
0.00009
|
NM_001386140.1(MTTP):c.124G>A (p.Val42Ile)
|
rs756998920
|
0.00009
|
NM_004006.3(DMD):c.2557T>C (p.Leu853=)
|
rs150387101
|
0.00009
|
NM_004006.3(DMD):c.3270G>A (p.Gln1090=)
|
rs373475857
|
0.00009
|
NM_004006.3(DMD):c.530+7A>T
|
rs72470523
|
0.00009
|
NM_004006.3(DMD):c.9888C>T (p.Pro3296=)
|
rs146543659
|
0.00009
|
NM_004646.4(NPHS1):c.1308C>T (p.Asn436=)
|
rs372707993
|
0.00009
|
NM_004937.3(CTNS):c.684C>T (p.Arg228=)
|
rs762346133
|
0.00009
|
NM_005373.3(MPL):c.1467C>T (p.Thr489=)
|
rs759161511
|
0.00009
|
NM_006096.4(NDRG1):c.663C>T (p.Pro221=)
|
rs377225752
|
0.00009
|
NM_006623.4(PHGDH):c.422C>T (p.Thr141Ile)
|
rs200037593
|
0.00009
|
NM_014140.4(SMARCAL1):c.117C>T (p.Gly39=)
|
rs565316605
|
0.00009
|
NM_014140.4(SMARCAL1):c.2322G>A (p.Ser774=)
|
rs139445683
|
0.00009
|
NM_014244.5(ADAMTS2):c.969T>C (p.Tyr323=)
|
rs374590440
|
0.00009
|
NM_014249.4(NR2E3):c.843C>T (p.Pro281=)
|
rs555211505
|
0.00009
|
NM_014363.6(SACS):c.10221A>G (p.Leu3407=)
|
rs143243372
|
0.00009
|
NM_014844.5(TECPR2):c.1173G>A (p.Thr391=)
|
rs747637703
|
0.00009
|
NM_014844.5(TECPR2):c.1926C>T (p.Val642=)
|
rs770279871
|
0.00009
|
NM_014844.5(TECPR2):c.318T>C (p.Leu106=)
|
rs769086551
|
0.00009
|
NM_015474.4(SAMHD1):c.1320C>T (p.Asp440=)
|
rs371992324
|
0.00009
|
NM_015506.3(MMACHC):c.462T>C (p.Phe154=)
|
rs199747998
|
0.00009
|
NM_015506.3(MMACHC):c.699A>G (p.Leu233=)
|
rs377439596
|
0.00009
|
NM_015627.3(LDLRAP1):c.141G>A (p.Leu47=)
|
rs543454612
|
0.00009
|
NM_017739.4(POMGNT1):c.747A>G (p.Ala249=)
|
rs774008151
|
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_019098.5(CNGB3):c.1149T>C (p.Thr383=)
|
rs554368357
|
0.00009
|
NM_022124.6(CDH23):c.1282G>A (p.Asp428Asn)
|
rs188376296
|
0.00009
|
NM_022124.6(CDH23):c.3352G>A (p.Gly1118Ser)
|
rs562052236
|
0.00009
|
NM_022124.6(CDH23):c.7245G>A (p.Val2415=)
|
rs751865337
|
0.00009
|
NM_023036.6(DNAI2):c.1485A>G (p.Val495=)
|
rs200587166
|
0.00009
|
NM_024685.4(BBS10):c.1333C>A (p.Leu445Ile)
|
rs199878555
|
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_025216.3(WNT10A):c.429C>T (p.His143=)
|
rs747642854
|
0.00009
|
NM_032520.5(GNPTG):c.713G>A (p.Gly238Glu)
|
rs202080062
|
0.00009
|
NM_033305.3(VPS13A):c.2499T>C (p.Ser833=)
|
rs372027471
|
0.00009
|
NM_033380.3(COL4A5):c.4075A>G (p.Ile1359Val)
|
rs748850424
|
0.00009
|
NM_033380.3(COL4A5):c.4741G>T (p.Ala1581Ser)
|
rs151130451
|
0.00009
|
NM_130849.4(SLC39A4):c.1149+9C>T
|
rs139192292
|
0.00009
|
NM_130849.4(SLC39A4):c.804+9C>T
|
rs200693339
|
0.00009
|
NM_138694.4(PKHD1):c.9714A>G (p.Gly3238=)
|
rs754654892
|
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_153717.3(EVC):c.759A>G (p.Ser253=)
|
rs201105095
|
0.00009
|
NM_201253.3(CRB1):c.2809G>A (p.Ala937Thr)
|
rs114630940
|
0.00009
|
NM_213653.4(HJV):c.1068T>C (p.Ala356=)
|
rs148998327
|
0.00009
|
NM_000019.4(ACAT1):c.502A>G (p.Thr168Ala)
|
rs577313004
|
0.00008
|
NM_000049.4(ASPA):c.459C>T (p.Tyr153=)
|
rs141755746
|
0.00008
|
NM_000057.4(BLM):c.664G>A (p.Glu222Lys)
|
rs774075577
|
0.00008
|
NM_000092.5(COL4A4):c.2751C>T (p.Pro917=)
|
rs544472944
|
0.00008
|
NM_000094.4(COL7A1):c.1242C>T (p.Asp414=)
|
rs373138319
|
0.00008
|
NM_000094.4(COL7A1):c.3937G>A (p.Ala1313Thr)
|
rs778191454
|
0.00008
|
NM_000094.4(COL7A1):c.4783-6C>T
|
rs761361407
|
0.00008
|
NM_000094.4(COL7A1):c.7380+8G>A
|
rs560853464
|
0.00008
|
NM_000094.4(COL7A1):c.8238T>C (p.Gly2746=)
|
rs761159131
|
0.00008
|
NM_000102.4(CYP17A1):c.1194G>A (p.Ala398=)
|
rs201222065
|
0.00008
|
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_000137.4(FAH):c.1008C>T (p.Asn336=)
|
rs373285527
|
0.00008
|
NM_000152.5(GAA):c.1265G>A (p.Arg422Gln)
|
rs2229224
|
0.00008
|
NM_000158.4(GBE1):c.1995C>T (p.His665=)
|
rs201515305
|
0.00008
|
NM_000159.4(GCDH):c.801C>T (p.Asp267=)
|
rs141293881
|
0.00008
|
NM_000198.4(HSD3B2):c.549G>A (p.Ala183=)
|
rs33932258
|
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_000246.4(CIITA):c.2384G>A (p.Arg795Gln)
|
rs553503699
|
0.00008
|
NM_000246.4(CIITA):c.3015G>A (p.Ser1005=)
|
rs764664500
|
0.00008
|
NM_000260.4(MYO7A):c.3651C>T (p.His1217=)
|
rs776731918
|
0.00008
|
NM_000260.4(MYO7A):c.4983C>T (p.Asp1661=)
|
rs111033331
|
0.00008
|
NM_000260.4(MYO7A):c.894C>T (p.Tyr298=)
|
rs554789699
|
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_000289.6(PFKM):c.1155C>T (p.Tyr385=)
|
rs146318448
|
0.00008
|
NM_000352.6(ABCC8):c.4116G>A (p.Gln1372=)
|
rs562715858
|
0.00008
|
NM_000397.4(CYBB):c.1587-6C>T
|
rs369705608
|
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_000498.3(CYP11B2):c.135A>G (p.Pro45=)
|
rs765056481
|
0.00008
|
NM_000521.4(HEXB):c.216C>T (p.Leu72=)
|
rs780221860
|
0.00008
|
NM_000527.5(LDLR):c.1764C>T (p.Ile588=)
|
rs778595540
|
0.00008
|
NM_000528.4(MAN2B1):c.2640T>C (p.Asn880=)
|
rs763786776
|
0.00008
|
NM_000532.5(PCCB):c.561C>T (p.Ser187=)
|
rs145057852
|
0.00008
|
NM_000543.5(SMPD1):c.1839G>A (p.Met613Ile)
|
rs370828368
|
0.00008
|
NM_000709.4(BCKDHA):c.1329C>T (p.Phe443=)
|
rs148224513
|
0.00008
|
NM_000709.4(BCKDHA):c.176C>T (p.Ala59Val)
|
rs138373035
|
0.00008
|
NM_001039958.2(MESP2):c.18T>A (p.Pro6=)
|
rs529998749
|
0.00008
|
NM_001126108.2(SLC12A3):c.1710G>A (p.Ala570=)
|
rs387907471
|
0.00008
|
NM_001127671.2(LIFR):c.1722G>A (p.Ser574=)
|
rs200521119
|
0.00008
|
NM_001127671.2(LIFR):c.2463G>A (p.Pro821=)
|
rs749085598
|
0.00008
|
NM_001130987.2(DYSF):c.1449+3G>A
|
rs764771218
|
0.00008
|
NM_001130987.2(DYSF):c.4464+7T>C
|
rs369949055
|
0.00008
|
NM_001142800.2(EYS):c.1107C>T (p.Ser369=)
|
rs755023434
|
0.00008
|
NM_001142800.2(EYS):c.2506C>T (p.Leu836=)
|
rs377216870
|
0.00008
|
NM_001142800.2(EYS):c.6510C>T (p.Asn2170=)
|
rs756110037
|
0.00008
|
NM_001174089.2(SLC4A11):c.117C>T (p.Thr39=)
|
rs774713662
|
0.00008
|
NM_001283009.2(RTEL1):c.1518C>T (p.Ile506=)
|
rs757231662
|
0.00008
|
NM_001283009.2(RTEL1):c.959-9G>A
|
rs373436285
|
0.00008
|
NM_001369.3(DNAH5):c.9619T>C (p.Leu3207=)
|
rs753402995
|
0.00008
|
NM_001384140.1(PCDH15):c.2325G>A (p.Val775=)
|
rs200792575
|
0.00008
|
NM_002778.4(PSAP):c.588C>T (p.Asp196=)
|
rs374869360
|
0.00008
|
NM_002778.4(PSAP):c.623T>G (p.Ile208Ser)
|
rs200319381
|
0.00008
|
NM_003640.5(ELP1):c.304-7G>A
|
rs374063549
|
0.00008
|
NM_004006.3(DMD):c.5700A>G (p.Leu1900=)
|
rs374387166
|
0.00008
|
NM_004006.3(DMD):c.7725G>A (p.Leu2575=)
|
rs754604466
|
0.00008
|
NM_004006.3(DMD):c.7747A>G (p.Thr2583Ala)
|
rs773656507
|
0.00008
|
NM_004006.3(DMD):c.8766C>T (p.Ser2922=)
|
rs149776669
|
0.00008
|
NM_004006.3(DMD):c.8829G>A (p.Thr2943=)
|
rs150766816
|
0.00008
|
NM_004006.3(DMD):c.8925C>T (p.Leu2975=)
|
rs374063420
|
0.00008
|
NM_004035.7(ACOX1):c.1452C>T (p.Thr484=)
|
rs377000540
|
0.00008
|
NM_004646.4(NPHS1):c.3130G>A (p.Glu1044Lys)
|
rs370387270
|
0.00008
|
NM_006261.5(PROP1):c.81G>A (p.Pro27=)
|
rs749312622
|
0.00008
|
NM_006623.4(PHGDH):c.1560G>A (p.Ala520=)
|
rs145788723
|
0.00008
|
NM_012203.2(GRHPR):c.543G>C (p.Leu181=)
|
rs370395134
|
0.00008
|
NM_013339.4(ALG6):c.915G>A (p.Thr305=)
|
rs112769742
|
0.00008
|
NM_013339.4(ALG6):c.96G>A (p.Pro32=)
|
rs149990175
|
0.00008
|
NM_014049.5(ACAD9):c.1596G>C (p.Arg532=)
|
rs368130030
|
0.00008
|
NM_014249.4(NR2E3):c.150C>T (p.Cys50=)
|
rs376753500
|
0.00008
|
NM_014844.5(TECPR2):c.3873C>T (p.His1291=)
|
rs377631259
|
0.00008
|
NM_020166.5(MCCC1):c.686A>G (p.Glu229Gly)
|
rs142629318
|
0.00008
|
NM_022124.6(CDH23):c.5442C>T (p.Ile1814=)
|
rs373768157
|
0.00008
|
NM_024301.5(FKRP):c.54T>A (p.Leu18=)
|
rs565563742
|
0.00008
|
NM_024685.4(BBS10):c.1629C>T (p.Asn543=)
|
rs145124702
|
0.00008
|
NM_032383.5(HPS3):c.1228A>G (p.Met410Val)
|
rs756295432
|
0.00008
|
NM_032520.5(GNPTG):c.489C>T (p.Phe163=)
|
rs370857842
|
0.00008
|
NM_033305.3(VPS13A):c.2601A>G (p.Arg867=)
|
rs145624888
|
0.00008
|
NM_033305.3(VPS13A):c.5786A>G (p.Asn1929Ser)
|
rs748876393
|
0.00008
|
NM_033380.3(COL4A5):c.89A>G (p.Tyr30Cys)
|
rs150305490
|
0.00008
|
NM_130849.4(SLC39A4):c.456C>T (p.Ala152=)
|
rs201684850
|
0.00008
|
NM_138694.4(PKHD1):c.11836T>C (p.Leu3946=)
|
rs35403035
|
0.00008
|
NM_153006.3(NAGS):c.722T>C (p.Val241Ala)
|
rs201142696
|
0.00008
|
NM_206933.4(USH2A):c.11466C>T (p.Ser3822=)
|
rs144655434
|
0.00008
|
NM_000033.4(ABCD1):c.1125G>A (p.Glu375=)
|
rs781928741
|
0.00007
|
NM_000033.4(ABCD1):c.504C>G (p.Ala168=)
|
rs782453684
|
0.00007
|
NM_000033.4(ABCD1):c.870G>A (p.Ser290=)
|
rs782563177
|
0.00007
|
NM_000048.4(ASL):c.174C>T (p.Ala58=)
|
rs376104424
|
0.00007
|
NM_000048.4(ASL):c.330A>G (p.Gly110=)
|
rs147464765
|
0.00007
|
NM_000051.4(ATM):c.749G>A (p.Arg250Gln)
|
rs56123940
|
0.00007
|
NM_000057.4(BLM):c.2856G>A (p.Gly952=)
|
rs140559841
|
0.00007
|
NM_000057.4(BLM):c.3751+9A>C
|
rs774368488
|
0.00007
|
NM_000080.4(CHRNE):c.1446G>A (p.Val482=)
|
rs376713095
|
0.00007
|
NM_000091.5(COL4A3):c.3476G>A (p.Arg1159His)
|
rs145948549
|
0.00007
|
NM_000094.4(COL7A1):c.2340G>A (p.Ser780=)
|
rs747814933
|
0.00007
|
NM_000117.3(EMD):c.12C>T (p.Tyr4=)
|
rs782011714
|
0.00007
|
NM_000117.3(EMD):c.400-9C>T
|
rs782061626
|
0.00007
|
NM_000135.4(FANCA):c.2981+4dup
|
rs75004096
|
0.00007
|
NM_000136.3(FANCC):c.531C>T (p.Pro177=)
|
rs150070473
|
0.00007
|
NM_000156.6(GAMT):c.201G>A (p.Val67=)
|
rs745986528
|
0.00007
|
NM_000156.6(GAMT):c.396C>A (p.Ile132=)
|
rs200500835
|
0.00007
|
NM_000158.4(GBE1):c.1389G>A (p.Thr463=)
|
rs757933285
|
0.00007
|
NM_000159.4(GCDH):c.861C>T (p.Phe287=)
|
rs200757991
|
0.00007
|
NM_000182.5(HADHA):c.1935G>A (p.Arg645=)
|
rs762246988
|
0.00007
|
NM_000195.5(HPS1):c.90C>T (p.Phe30=)
|
rs765362355
|
0.00007
|
NM_000198.4(HSD3B2):c.750T>C (p.Gly250=)
|
rs755461071
|
0.00007
|
NM_000203.5(IDUA):c.882C>T (p.Pro294=)
|
rs762825338
|
0.00007
|
NM_000206.3(IL2RG):c.759G>T (p.Glu253Asp)
|
rs200239526
|
0.00007
|
NM_000235.4(LIPA):c.1023C>T (p.Ser341=)
|
rs747984396
|
0.00007
|
NM_000274.4(OAT):c.1110C>T (p.Ala370=)
|
rs148325838
|
0.00007
|
NM_000287.4(PEX6):c.1680C>T (p.Pro560=)
|
rs372998833
|
0.00007
|
NM_000329.3(RPE65):c.585C>T (p.Cys195=)
|
rs571111378
|
0.00007
|
NM_000352.6(ABCC8):c.3099G>A (p.Leu1033=)
|
rs200693100
|
0.00007
|
NM_000359.3(TGM1):c.1653C>T (p.Asp551=)
|
rs2855111
|
0.00007
|
NM_000360.4(TH):c.1476G>A (p.Ala492=)
|
rs146945950
|
0.00007
|
NM_000360.4(TH):c.240C>T (p.Ala80=)
|
rs371658705
|
0.00007
|
NM_000360.4(TH):c.252G>A (p.Leu84=)
|
rs758016812
|
0.00007
|
NM_000382.3(ALDH3A2):c.1373G>A (p.Arg458Gln)
|
rs144190241
|
0.00007
|
NM_000397.4(CYBB):c.1158G>A (p.Ala386=)
|
rs374511592
|
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_000492.4(CFTR):c.1043T>A (p.Met348Lys)
|
rs142920240
|
0.00007
|
NM_000498.3(CYP11B2):c.435C>T (p.Asn145=)
|
rs200831024
|
0.00007
|
NM_000709.4(BCKDHA):c.288+10G>A
|
rs376894084
|
0.00007
|
NM_001079866.2(BCS1L):c.201C>T (p.Leu67=)
|
rs142540289
|
0.00007
|
NM_001142800.2(EYS):c.6009C>T (p.Leu2003=)
|
rs934395477
|
0.00007
|
NM_001164508.2(NEB):c.105G>A (p.Thr35=)
|
rs368075131
|
0.00007
|
NM_001164508.2(NEB):c.16875C>T (p.Val5625=)
|
rs757882235
|
0.00007
|
NM_001201543.2(FAM161A):c.720G>A (p.Glu240=)
|
rs750749446
|
0.00007
|
NM_001283009.2(RTEL1):c.2436C>T (p.Pro812=)
|
rs370202708
|
0.00007
|
NM_001283009.2(RTEL1):c.3499+6G>A
|
rs201617354
|
0.00007
|
NM_001352514.2(HLCS):c.816C>T (p.Ala272=)
|
rs376665169
|
0.00007
|
NM_001370658.1(BTD):c.1344C>T (p.Phe448=)
|
rs781065270
|
0.00007
|
NM_001378454.1(ALMS1):c.2493C>T (p.Pro831=)
|
rs561060460
|
0.00007
|
NM_001378454.1(ALMS1):c.3974T>G (p.Val1325Gly)
|
rs868269804
|
0.00007
|
NM_001399.5(EDA):c.870C>T (p.Ser290=)
|
rs760869403
|
0.00007
|
NM_001875.5(CPS1):c.487G>A (p.Gly163Arg)
|
rs200214298
|
0.00007
|
NM_001953.5(TYMP):c.1185G>A (p.Leu395=)
|
rs748898877
|
0.00007
|
NM_003060.4(SLC22A5):c.1284T>A (p.Ala428=)
|
rs780429964
|
0.00007
|
NM_003640.5(ELP1):c.1599A>G (p.Ala533=)
|
rs771318456
|
0.00007
|
NM_003640.5(ELP1):c.2769A>G (p.Thr923=)
|
rs370330097
|
0.00007
|
NM_003640.5(ELP1):c.3219C>A (p.Ala1073=)
|
rs371960059
|
0.00007
|
NM_003982.4(SLC7A7):c.1431G>A (p.Gly477=)
|
rs201993411
|
0.00007
|
NM_004004.6(GJB2):c.177C>T (p.Gly59=)
|
rs375122728
|
0.00007
|
NM_004004.6(GJB2):c.24G>A (p.Thr8=)
|
rs533231493
|
0.00007
|
NM_004006.3(DMD):c.2060C>T (p.Thr687Met)
|
rs751543064
|
0.00007
|
NM_004006.3(DMD):c.2988A>G (p.Leu996=)
|
rs148835707
|
0.00007
|
NM_004006.3(DMD):c.3450G>A (p.Glu1150=)
|
rs142967431
|
0.00007
|
NM_004006.3(DMD):c.4721G>A (p.Arg1574His)
|
rs755206033
|
0.00007
|
NM_004006.3(DMD):c.8307C>T (p.Ser2769=)
|
rs958880486
|
0.00007
|
NM_004006.3(DMD):c.863G>C (p.Arg288Thr)
|
rs767304770
|
0.00007
|
NM_004006.3(DMD):c.8712A>G (p.Leu2904=)
|
rs764631900
|
0.00007
|
NM_004006.3(DMD):c.9093C>T (p.Val3031=)
|
rs72466563
|
0.00007
|
NM_004006.3(DMD):c.9325G>T (p.Ala3109Ser)
|
rs201718067
|
0.00007
|
NM_004035.7(ACOX1):c.667G>A (p.Val223Ile)
|
rs143260706
|
0.00007
|
NM_004646.4(NPHS1):c.3654C>T (p.Asp1218=)
|
rs766025346
|
0.00007
|
NM_005055.5(RAPSN):c.1189C>T (p.Arg397Trp)
|
rs201796294
|
0.00007
|
NM_006019.4(TCIRG1):c.1278A>G (p.Arg426=)
|
rs138527421
|
0.00007
|
NM_006118.4(HAX1):c.160C>G (p.Pro54Ala)
|
rs139205111
|
0.00007
|
NM_006493.4(CLN5):c.642A>T (p.Val214=)
|
rs751496223
|
0.00007
|
NM_006623.4(PHGDH):c.261C>T (p.Ala87=)
|
rs761309245
|
0.00007
|
NM_012203.2(GRHPR):c.846C>G (p.Leu282=)
|
rs146293016
|
0.00007
|
NM_013339.4(ALG6):c.527G>T (p.Trp176Leu)
|
rs773699560
|
0.00007
|
NM_014140.4(SMARCAL1):c.2340C>T (p.Ala780=)
|
rs780778758
|
0.00007
|
NM_014244.5(ADAMTS2):c.2292C>T (p.Ala764=)
|
rs188566209
|
0.00007
|
NM_014625.4(NPHS2):c.126G>A (p.Gly42=)
|
rs769791509
|
0.00007
|
NM_014844.5(TECPR2):c.2250G>A (p.Thr750=)
|
rs182655288
|
0.00007
|
NM_014844.5(TECPR2):c.4081+10C>T
|
rs745954864
|
0.00007
|
NM_015166.4(MLC1):c.120G>A (p.Ser40=)
|
rs557978926
|
0.00007
|
NM_017739.4(POMGNT1):c.1299G>A (p.Thr433=)
|
rs187954010
|
0.00007
|
NM_017739.4(POMGNT1):c.1605-8C>T
|
rs535331969
|
0.00007
|
NM_019098.5(CNGB3):c.1110T>C (p.Val370=)
|
rs148884146
|
0.00007
|
NM_020533.3(MCOLN1):c.1650C>T (p.Ser550=)
|
rs749335667
|
0.00007
|
NM_023036.6(DNAI2):c.1251C>T (p.Pro417=)
|
rs139319121
|
0.00007
|
NM_025216.3(WNT10A):c.125A>G (p.Asn42Ser)
|
rs149865858
|
0.00007
|
NM_025216.3(WNT10A):c.874A>G (p.Ser292Gly)
|
rs767665930
|
0.00007
|
NM_033056.4(PCDH15):c.4485A>G (p.Ser1495=)
|
rs772650866
|
0.00007
|
NM_033056.4(PCDH15):c.4542A>G (p.Thr1514=)
|
rs369183721
|
0.00007
|
NM_033380.3(COL4A5):c.1350A>G (p.Ile450Met)
|
rs201481496
|
0.00007
|
NM_033380.3(COL4A5):c.3247-10G>A
|
rs369817184
|
0.00007
|
NM_033380.3(COL4A5):c.3403A>G (p.Ile1135Val)
|
rs747614562
|
0.00007
|
NM_033380.3(COL4A5):c.646-6C>T
|
rs200151467
|
0.00007
|
NM_054012.4(ASS1):c.174+10G>A
|
rs371597908
|
0.00007
|
NM_130849.4(SLC39A4):c.1149+10C>T
|
rs782654111
|
0.00007
|
NM_130849.4(SLC39A4):c.210C>T (p.Asp70=)
|
rs782410150
|
0.00007
|
NM_138694.4(PKHD1):c.11007G>A (p.Ser3669=)
|
rs142855690
|
0.00007
|
NM_152618.3(BBS12):c.1506C>T (p.Ala502=)
|
rs144855583
|
0.00007
|
NM_152618.3(BBS12):c.1980G>A (p.Pro660=)
|
rs778953866
|
0.00007
|
NM_201548.5(CERKL):c.327T>G (p.Val109=)
|
rs907281117
|
0.00007
|
NM_206933.4(USH2A):c.1158C>A (p.Ile386=)
|
rs1037072307
|
0.00007
|
NM_206933.4(USH2A):c.5061T>C (p.Ile1687=)
|
rs144857806
|
0.00007
|
NM_206933.4(USH2A):c.5577C>T (p.Phe1859=)
|
rs764839361
|
0.00007
|
NM_206933.4(USH2A):c.7476G>A (p.Ser2492=)
|
rs777803742
|
0.00007
|
NM_000016.6(ACADM):c.582C>T (p.Asn194=)
|
rs778535261
|
0.00006
|
NM_000018.4(ACADVL):c.264C>T (p.Phe88=)
|
rs147357106
|
0.00006
|
NM_000022.4(ADA):c.927G>A (p.Gln309=)
|
rs139871719
|
0.00006
|
NM_000030.3(AGXT):c.762C>T (p.Asp254=)
|
rs375038017
|
0.00006
|
NM_000030.3(AGXT):c.888G>A (p.Ala296=)
|
rs979513298
|
0.00006
|
NM_000052.7(ATP7A):c.1677T>G (p.Ala559=)
|
rs149841982
|
0.00006
|
NM_000053.4(ATP7B):c.4251A>G (p.Thr1417=)
|
rs546721020
|
0.00006
|
NM_000057.4(BLM):c.2898C>G (p.Leu966=)
|
rs201220226
|
0.00006
|
NM_000057.4(BLM):c.4186T>C (p.Leu1396=)
|
rs376734461
|
0.00006
|
NM_000057.4(BLM):c.450C>T (p.Thr150=)
|
rs148861300
|
0.00006
|
NM_000070.3(CAPN3):c.1017G>A (p.Thr339=)
|
rs141934227
|
0.00006
|
NM_000070.3(CAPN3):c.2109C>T (p.Leu703=)
|
rs371577901
|
0.00006
|
NM_000080.4(CHRNE):c.1074G>A (p.Pro358=)
|
rs745744138
|
0.00006
|
NM_000080.4(CHRNE):c.1104C>T (p.Pro368=)
|
rs767374241
|
0.00006
|
NM_000080.4(CHRNE):c.948G>A (p.Thr316=)
|
rs144207552
|
0.00006
|
NM_000094.4(COL7A1):c.1527C>T (p.Ser509=)
|
rs78149541
|
0.00006
|
NM_000094.4(COL7A1):c.3612G>A (p.Ala1204=)
|
rs762604188
|
0.00006
|
NM_000094.4(COL7A1):c.4560T>A (p.Pro1520=)
|
rs142686837
|
0.00006
|
NM_000094.4(COL7A1):c.5368G>A (p.Ala1790Thr)
|
rs780506505
|
0.00006
|
NM_000094.4(COL7A1):c.761C>T (p.Ala254Val)
|
rs201916805
|
0.00006
|
NM_000094.4(COL7A1):c.8064C>T (p.Asp2688=)
|
rs546054756
|
0.00006
|
NM_000094.4(COL7A1):c.8322C>T (p.Ala2774=)
|
rs142948995
|
0.00006
|
NM_000094.4(COL7A1):c.8819-3C>T
|
rs148536949
|
0.00006
|
NM_000103.4(CYP19A1):c.336C>T (p.Tyr112=)
|
rs139905959
|
0.00006
|
NM_000108.5(DLD):c.508G>A (p.Gly170Ser)
|
rs567286177
|
0.00006
|
NM_000128.4(F11):c.-57G>A
|
rs1043431996
|
0.00006
|
NM_000128.4(F11):c.1287C>T (p.Ala429=)
|
rs138122638
|
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_000153.4(GALC):c.1731C>T (p.Phe577=)
|
rs201560122
|
0.00006
|
NM_000154.2(GALK1):c.657C>T (p.Ala219=)
|
rs754593748
|
0.00006
|
NM_000155.4(GALT):c.1128A>T (p.Ala376=)
|
rs781374930
|
0.00006
|
NM_000158.4(GBE1):c.1406A>G (p.Tyr469Cys)
|
rs760661724
|
0.00006
|
NM_000166.6(GJB1):c.441C>T (p.Ala147=)
|
rs765686240
|
0.00006
|
NM_000170.3(GLDC):c.78G>C (p.Ser26=)
|
rs915226152
|
0.00006
|
NM_000198.4(HSD3B2):c.714T>C (p.Ala238=)
|
rs745608432
|
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_000206.3(IL2RG):c.754A>G (p.Lys252Glu)
|
rs765748584
|
0.00006
|
NM_000243.3(MEFV):c.2049G>A (p.Ser683=)
|
rs104895092
|
0.00006
|
NM_000243.3(MEFV):c.657C>T (p.Gly219=)
|
rs104895182
|
0.00006
|
NM_000246.4(CIITA):c.3175G>A (p.Val1059Met)
|
rs200742204
|
0.00006
|
NM_000246.4(CIITA):c.384C>T (p.Ile128=)
|
rs140106499
|
0.00006
|
NM_000252.3(MTM1):c.1455T>C (p.Ala485=)
|
rs141358705
|
0.00006
|
NM_000252.3(MTM1):c.1729G>A (p.Ala577Thr)
|
rs148195763
|
0.00006
|
NM_000263.4(NAGLU):c.1272C>T (p.Asn424=)
|
rs200715586
|
0.00006
|
NM_000271.5(NPC1):c.1479C>T (p.Ser493=)
|
rs148078801
|
0.00006
|
NM_000282.4(PCCA):c.1515C>T (p.Ser505=)
|
rs201162791
|
0.00006
|
NM_000282.4(PCCA):c.1713C>T (p.Thr571=)
|
rs778536273
|
0.00006
|
NM_000303.3(PMM2):c.339G>A (p.Pro113=)
|
rs149849259
|
0.00006
|
NM_000329.3(RPE65):c.1086A>G (p.Gln362=)
|
rs750890448
|
0.00006
|
NM_000352.6(ABCC8):c.1368C>T (p.Leu456=)
|
rs775001123
|
0.00006
|
NM_000352.6(ABCC8):c.1958G>A (p.Arg653Gln)
|
rs146378237
|
0.00006
|
NM_000352.6(ABCC8):c.4239G>T (p.Pro1413=)
|
rs373478721
|
0.00006
|
NM_000352.6(ABCC8):c.824G>A (p.Arg275Gln)
|
rs185040406
|
0.00006
|
NM_000359.3(TGM1):c.1761C>T (p.Asp587=)
|
rs751201972
|
0.00006
|
NM_000360.4(TH):c.1228C>A (p.Arg410=)
|
rs575326605
|
0.00006
|
NM_000360.4(TH):c.362C>T (p.Pro121Leu)
|
rs760017478
|
0.00006
|
NM_000382.3(ALDH3A2):c.1179G>A (p.Thr393=)
|
rs372428552
|
0.00006
|
NM_000383.4(AIRE):c.1326C>T (p.Asp442=)
|
rs750033525
|
0.00006
|
NM_000390.4(CHM):c.498G>A (p.Ala166=)
|
rs779055829
|
0.00006
|
NM_000390.4(CHM):c.957A>G (p.Thr319=)
|
rs373242750
|
0.00006
|
NM_000396.4(CTSK):c.117C>T (p.Asn39=)
|
rs369459638
|
0.00006
|
NM_000397.4(CYBB):c.1203T>C (p.Tyr401=)
|
rs782312337
|
0.00006
|
NM_000441.2(SLC26A4):c.1233C>T (p.Ala411=)
|
rs766572560
|
0.00006
|
NM_000441.2(SLC26A4):c.2283A>G (p.Thr761=)
|
rs202033028
|
0.00006
|
NM_000478.6(ALPL):c.961C>T (p.Arg321Trp)
|
rs200133602
|
0.00006
|
NM_000481.4(AMT):c.555C>T (p.Pro185=)
|
rs144790394
|
0.00006
|
NM_000486.6(AQP2):c.70G>A (p.Val24Ile)
|
rs200706192
|
0.00006
|
NM_000487.6(ARSA):c.228C>T (p.Ala76=)
|
rs371930403
|
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_000492.4(CFTR):c.1519A>G (p.Ile507Val)
|
rs1801178
|
0.00006
|
NM_000492.4(CFTR):c.2604A>G (p.Val868=)
|
rs1800105
|
0.00006
|
NM_000492.4(CFTR):c.2769C>T (p.Ala923=)
|
rs1800108
|
0.00006
|
NM_000492.4(CFTR):c.663G>A (p.Ala221=)
|
rs758147990
|
0.00006
|
NM_000498.3(CYP11B2):c.1240G>C (p.Ala414Pro)
|
rs755139614
|
0.00006
|
NM_000527.5(LDLR):c.2397C>T (p.Leu799=)
|
rs367882846
|
0.00006
|
NM_000532.5(PCCB):c.66C>G (p.Arg22=)
|
rs759836996
|
0.00006
|
NM_000543.5(SMPD1):c.1632C>T (p.Thr544=)
|
rs201659696
|
0.00006
|
NM_000709.4(BCKDHA):c.606C>T (p.Phe202=)
|
rs370068964
|
0.00006
|
NM_000709.4(BCKDHA):c.978C>T (p.Ile326=)
|
rs398123514
|
0.00006
|
NM_000784.4(CYP27A1):c.420C>T (p.His140=)
|
rs139415581
|
0.00006
|
NM_000784.4(CYP27A1):c.712G>A (p.Val238Met)
|
rs199691576
|
0.00006
|
NM_001003722.2(GLE1):c.471G>A (p.Lys157=)
|
rs773154466
|
0.00006
|
NM_001033855.3(DCLRE1C):c.161+8A>C
|
rs542719569
|
0.00006
|
NM_001039958.2(MESP2):c.561G>A (p.Gly187=)
|
rs767474985
|
0.00006
|
NM_001126108.2(SLC12A3):c.1932G>A (p.Gln644=)
|
rs749222099
|
0.00006
|
NM_001126108.2(SLC12A3):c.2793C>T (p.Asn931=)
|
rs13306666
|
0.00006
|
NM_001130987.2(DYSF):c.3765C>T (p.Asp1255=)
|
rs781758050
|
0.00006
|
NM_001142800.2(EYS):c.1950G>A (p.Ala650=)
|
rs565864295
|
0.00006
|
NM_001164508.2(NEB):c.10233T>C (p.Ala3411=)
|
rs727504033
|
0.00006
|
NM_001164508.2(NEB):c.10821C>T (p.Pro3607=)
|
rs375814899
|
0.00006
|
NM_001164508.2(NEB):c.20127C>T (p.His6709=)
|
rs368328496
|
0.00006
|
NM_001164508.2(NEB):c.2415T>C (p.Asp805=)
|
rs566989836
|
0.00006
|
NM_001173990.3(TMEM216):c.420T>C (p.Ala140=)
|
rs749351351
|
0.00006
|
NM_001174089.2(SLC4A11):c.120C>T (p.Phe40=)
|
rs577502313
|
0.00006
|
NM_001174089.2(SLC4A11):c.1890G>A (p.Ala630=)
|
rs376848818
|
0.00006
|
NM_001174089.2(SLC4A11):c.242-6C>T
|
rs761855363
|
0.00006
|
NM_001283009.2(RTEL1):c.12A>C (p.Ile4=)
|
rs779748543
|
0.00006
|
NM_001283009.2(RTEL1):c.3222G>A (p.Ala1074=)
|
rs575430966
|
0.00006
|
NM_001283009.2(RTEL1):c.3267C>T (p.Asp1089=)
|
rs370637234
|
0.00006
|
NM_001283009.2(RTEL1):c.3273C>T (p.Asp1091=)
|
rs528125869
|
0.00006
|
NM_001360.3(DHCR7):c.522C>T (p.Phe174=)
|
rs140648594
|
0.00006
|
NM_001365088.1(SLC12A6):c.918C>T (p.Asp306=)
|
rs201041861
|
0.00006
|
NM_001369.3(DNAH5):c.13155A>T (p.Pro4385=)
|
rs202103048
|
0.00006
|
NM_001369.3(DNAH5):c.2235C>T (p.Tyr745=)
|
rs139916610
|
0.00006
|
NM_001369.3(DNAH5):c.4071C>T (p.Ser1357=)
|
rs201264488
|
0.00006
|
NM_001369.3(DNAH5):c.537G>A (p.Thr179=)
|
rs370805321
|
0.00006
|
NM_001369.3(DNAH5):c.7602G>T (p.Ala2534=)
|
rs770309996
|
0.00006
|
NM_001378454.1(ALMS1):c.12036C>T (p.Asp4012=)
|
rs370981817
|
0.00006
|
NM_001378454.1(ALMS1):c.1470A>G (p.Gln490=)
|
rs769982352
|
0.00006
|
NM_001378454.1(ALMS1):c.4731G>A (p.Pro1577=)
|
rs747216050
|
0.00006
|
NM_001378454.1(ALMS1):c.5827C>T (p.Arg1943Cys)
|
rs370398704
|
0.00006
|
NM_001378454.1(ALMS1):c.5835G>A (p.Glu1945=)
|
rs529600949
|
0.00006
|
NM_001378454.1(ALMS1):c.7719A>G (p.Val2573=)
|
rs561565809
|
0.00006
|
NM_001378454.1(ALMS1):c.7976C>G (p.Pro2659Arg)
|
rs537509954
|
0.00006
|
NM_001378454.1(ALMS1):c.9495C>T (p.Phe3165=)
|
rs45607436
|
0.00006
|
NM_001384140.1(PCDH15):c.1912C>T (p.Leu638=)
|
rs763230126
|
0.00006
|
NM_001384140.1(PCDH15):c.3753T>C (p.Ile1251=)
|
rs139873638
|
0.00006
|
NM_001384140.1(PCDH15):c.3936A>G (p.Ala1312=)
|
rs398124433
|
0.00006
|
NM_001384474.1(LOXHD1):c.6252C>T (p.His2084=)
|
rs753440039
|
0.00006
|
NM_001386140.1(MTTP):c.915G>A (p.Ser305=)
|
rs199716549
|
0.00006
|
NM_001875.5(CPS1):c.3234A>G (p.Thr1078=)
|
rs148570490
|
0.00006
|
NM_001876.4(CPT1A):c.1845C>T (p.Phe615=)
|
rs144747588
|
0.00006
|
NM_001876.4(CPT1A):c.2178T>C (p.Leu726=)
|
rs200501379
|
0.00006
|
NM_002076.4(GNS):c.30G>A (p.Arg10=)
|
rs753033310
|
0.00006
|
NM_002435.3(MPI):c.390C>T (p.Pro130=)
|
rs140961968
|
0.00006
|
NM_002435.3(MPI):c.708G>A (p.Glu236=)
|
rs530537706
|
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_003227.4(TFR2):c.1179C>T (p.Pro393=)
|
rs149590949
|
0.00006
|
NM_003227.4(TFR2):c.1249A>G (p.Ile417Val)
|
rs141101651
|
0.00006
|
NM_003227.4(TFR2):c.462G>A (p.Glu154=)
|
rs761954336
|
0.00006
|
NM_003384.3(VRK1):c.576+8T>C
|
rs368495945
|
0.00006
|
NM_003640.5(ELP1):c.2982G>A (p.Glu994=)
|
rs147870527
|
0.00006
|
NM_003907.3(EIF2B5):c.936C>T (p.Asp312=)
|
rs371452981
|
0.00006
|
NM_004006.3(DMD):c.10593C>T (p.His3531=)
|
rs753460206
|
0.00006
|
NM_004006.3(DMD):c.1173C>T (p.Ala391=)
|
rs1057522737
|
0.00006
|
NM_004006.3(DMD):c.1184G>A (p.Arg395Gln)
|
rs148511512
|
0.00006
|
NM_004006.3(DMD):c.1824G>A (p.Ala608=)
|
rs151013182
|
0.00006
|
NM_004006.3(DMD):c.3047G>A (p.Arg1016Gln)
|
rs139772014
|
0.00006
|
NM_004006.3(DMD):c.3405C>T (p.Asn1135=)
|
rs373182842
|
0.00006
|
NM_004006.3(DMD):c.3445A>G (p.Lys1149Glu)
|
rs144667422
|
0.00006
|
NM_004006.3(DMD):c.4533T>C (p.Ser1511=)
|
rs1446495967
|
0.00006
|
NM_004006.3(DMD):c.501G>T (p.Leu167=)
|
rs150239235
|
0.00006
|
NM_004006.3(DMD):c.5418T>C (p.Asn1806=)
|
rs149543306
|
0.00006
|
NM_004006.3(DMD):c.7051T>C (p.Leu2351=)
|
rs367747168
|
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_004646.4(NPHS1):c.115G>A (p.Glu39Lys)
|
rs375670819
|
0.00006
|
NM_005476.7(GNE):c.1242T>C (p.Leu414=)
|
rs371881711
|
0.00006
|
NM_005629.4(SLC6A8):c.1170G>A (p.Pro390=)
|
rs782416756
|
0.00006
|
NM_005629.4(SLC6A8):c.1254+6C>T
|
rs782764159
|
0.00006
|
NM_005629.4(SLC6A8):c.1504C>T (p.Arg502Cys)
|
rs782488606
|
0.00006
|
NM_005629.4(SLC6A8):c.831G>A (p.Val277=)
|
rs149357346
|
0.00006
|
NM_006019.4(TCIRG1):c.1629C>T (p.Val543=)
|
rs367732638
|
0.00006
|
NM_006096.4(NDRG1):c.804C>T (p.Ala268=)
|
rs754704497
|
0.00006
|
NM_006623.4(PHGDH):c.1255G>A (p.Gly419Arg)
|
rs145344767
|
0.00006
|
NM_012203.2(GRHPR):c.84-4G>A
|
rs778578725
|
0.00006
|
NM_012243.3(SLC35A3):c.348G>A (p.Thr116=)
|
rs574333514
|
0.00006
|
NM_013339.4(ALG6):c.1314T>C (p.Ile438=)
|
rs146939069
|
0.00006
|
NM_013339.4(ALG6):c.665G>A (p.Gly222Asp)
|
rs532466353
|
0.00006
|
NM_013339.4(ALG6):c.816+10A>T
|
rs529032571
|
0.00006
|
NM_014140.4(SMARCAL1):c.1299G>A (p.Val433=)
|
rs773940970
|
0.00006
|
NM_014140.4(SMARCAL1):c.927C>T (p.Ser309=)
|
rs139949668
|
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_014251.3(SLC25A13):c.1751-4_1751-3insT
|
rs765170811
|
0.00006
|
NM_014363.6(SACS):c.12216T>A (p.Thr4072=)
|
rs574182225
|
0.00006
|
NM_014363.6(SACS):c.2487C>T (p.Asp829=)
|
rs151198216
|
0.00006
|
NM_014363.6(SACS):c.4743C>T (p.Phe1581=)
|
rs143310473
|
0.00006
|
NM_014363.6(SACS):c.5529G>C (p.Leu1843=)
|
rs148091738
|
0.00006
|
NM_014625.4(NPHS2):c.372C>T (p.Cys124=)
|
rs139290621
|
0.00006
|
NM_014844.5(TECPR2):c.1792G>A (p.Gly598Arg)
|
rs772792595
|
0.00006
|
NM_014844.5(TECPR2):c.2970C>T (p.Leu990=)
|
rs367970932
|
0.00006
|
NM_014844.5(TECPR2):c.3171C>T (p.Pro1057=)
|
rs749964386
|
0.00006
|
NM_014844.5(TECPR2):c.3477G>A (p.Arg1159=)
|
rs2295975
|
0.00006
|
NM_014844.5(TECPR2):c.4065C>T (p.Ser1355=)
|
rs142318405
|
0.00006
|
NM_015166.4(MLC1):c.715-5C>A
|
rs751850836
|
0.00006
|
NM_015474.4(SAMHD1):c.18C>T (p.Ser6=)
|
rs149098281
|
0.00006
|
NM_015506.3(MMACHC):c.*10A>G
|
rs367574509
|
0.00006
|
NM_015506.3(MMACHC):c.315C>T (p.Tyr105=)
|
rs528744719
|
0.00006
|
NM_015506.3(MMACHC):c.821T>C (p.Val274Ala)
|
rs569132013
|
0.00006
|
NM_015627.3(LDLRAP1):c.114G>C (p.Thr38=)
|
rs138908999
|
0.00006
|
NM_015627.3(LDLRAP1):c.573C>T (p.Asp191=)
|
rs375358854
|
0.00006
|
NM_015627.3(LDLRAP1):c.861C>T (p.Leu287=)
|
rs767867837
|
0.00006
|
NM_015702.3(MMADHC):c.515A>C (p.Lys172Thr)
|
rs147318949
|
0.00006
|
NM_018006.5(TRMU):c.248+9G>A
|
rs369189631
|
0.00006
|
NM_018941.4(CLN8):c.510G>A (p.Thr170=)
|
rs759153401
|
0.00006
|
NM_019098.5(CNGB3):c.720C>T (p.Leu240=)
|
rs770816095
|
0.00006
|
NM_020166.5(MCCC1):c.1486T>C (p.Leu496=)
|
rs768167603
|
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_022124.6(CDH23):c.2766C>T (p.Asn922=)
|
rs371670151
|
0.00006
|
NM_022124.6(CDH23):c.6366C>T (p.Thr2122=)
|
rs368440578
|
0.00006
|
NM_022124.6(CDH23):c.738C>T (p.Tyr246=)
|
rs745668474
|
0.00006
|
NM_022124.6(CDH23):c.9639G>A (p.Ser3213=)
|
rs751829738
|
0.00006
|
NM_023036.6(DNAI2):c.396G>A (p.Glu132=)
|
rs777369529
|
0.00006
|
NM_024120.5(NDUFAF5):c.222+8C>G
|
rs113659919
|
0.00006
|
NM_024685.4(BBS10):c.429T>C (p.Gly143=)
|
rs146587757
|
0.00006
|
NM_024685.4(BBS10):c.440A>G (p.Gln147Arg)
|
rs140585012
|
0.00006
|
NM_025114.4(CEP290):c.6909A>C (p.Ala2303=)
|
rs774138995
|
0.00006
|
NM_025216.3(WNT10A):c.512G>A (p.Arg171His)
|
rs199737793
|
0.00006
|
NM_032383.5(HPS3):c.719G>A (p.Ser240Asn)
|
rs750402363
|
0.00006
|
NM_033056.4(PCDH15):c.4749G>A (p.Arg1583=)
|
rs767811568
|
0.00006
|
NM_033056.4(PCDH15):c.5589A>G (p.Thr1863=)
|
rs572643730
|
0.00006
|
NM_033305.3(VPS13A):c.1269T>C (p.Asp423=)
|
rs151069489
|
0.00006
|
NM_033305.3(VPS13A):c.9119G>A (p.Arg3040Gln)
|
rs148458576
|
0.00006
|
NM_033380.3(COL4A5):c.1586C>A (p.Pro529Gln)
|
rs758983710
|
0.00006
|
NM_033380.3(COL4A5):c.3468T>C (p.His1156=)
|
rs769984503
|
0.00006
|
NM_033380.3(COL4A5):c.3923A>G (p.Gln1308Arg)
|
rs104886399
|
0.00006
|
NM_052845.4(MMAB):c.150G>A (p.Ser50=)
|
rs754357121
|
0.00006
|
NM_054012.4(ASS1):c.1047G>T (p.Val349=)
|
rs376502913
|
0.00006
|
NM_057176.3(BSND):c.893G>A (p.Gly298Glu)
|
rs180858237
|
0.00006
|
NM_130849.4(SLC39A4):c.1323T>C (p.His441=)
|
rs143819461
|
0.00006
|
NM_133259.4(LRPPRC):c.4077C>T (p.Tyr1359=)
|
rs148828179
|
0.00006
|
NM_138413.4(HOGA1):c.802C>T (p.Leu268=)
|
rs201910899
|
0.00006
|
NM_138413.4(HOGA1):c.828C>T (p.Asn276=)
|
rs201683794
|
0.00006
|
NM_138694.4(PKHD1):c.2232C>T (p.Thr744=)
|
rs1443176251
|
0.00006
|
NM_138694.4(PKHD1):c.3860T>G (p.Val1287Gly)
|
rs767229742
|
0.00006
|
NM_138694.4(PKHD1):c.5112C>T (p.Cys1704=)
|
rs202010726
|
0.00006
|
NM_138694.4(PKHD1):c.5538C>T (p.Cys1846=)
|
rs373244595
|
0.00006
|
NM_138694.4(PKHD1):c.7977G>A (p.Pro2659=)
|
rs748084543
|
0.00006
|
NM_138694.4(PKHD1):c.9576C>T (p.Ser3192=)
|
rs201670044
|
0.00006
|
NM_138694.4(PKHD1):c.9629C>G (p.Ser3210Cys)
|
rs141081295
|
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_152618.3(BBS12):c.1323G>A (p.Val441=)
|
rs766332688
|
0.00006
|
NM_152618.3(BBS12):c.882T>C (p.Tyr294=)
|
rs766149148
|
0.00006
|
NM_153676.4(USH1C):c.2373G>A (p.Glu791=)
|
rs746011575
|
0.00006
|
NM_153717.3(EVC):c.1980G>A (p.Thr660=)
|
rs537471996
|
0.00006
|
NM_153717.3(EVC):c.2868C>T (p.Ser956=)
|
rs757526901
|
0.00006
|
NM_153717.3(EVC):c.534C>A (p.Val178=)
|
rs774703104
|
0.00006
|
NM_178138.6(LHX3):c.87G>A (p.Pro29=)
|
rs183980824
|
0.00006
|
NM_182760.4(SUMF1):c.192G>C (p.Ser64=)
|
rs770050124
|
0.00006
|
NM_201253.3(CRB1):c.1014C>T (p.Ile338=)
|
rs771549675
|
0.00006
|
NM_201253.3(CRB1):c.1746A>G (p.Leu582=)
|
rs550119977
|
0.00006
|
NM_201525.4(ADGRG1):c.801G>C (p.Val267=)
|
rs141056936
|
0.00006
|
NM_205861.3(DHDDS):c.480T>C (p.His160=)
|
rs758260694
|
0.00006
|
NM_206933.4(USH2A):c.12597T>C (p.Ala4199=)
|
rs202172029
|
0.00006
|
NM_213653.4(HJV):c.645C>G (p.Thr215=)
|
rs782116984
|
0.00006
|
NM_000019.4(ACAT1):c.1209G>A (p.Lys403=)
|
rs200729208
|
0.00005
|
NM_000030.3(AGXT):c.1170G>A (p.Lys390=)
|
rs899277137
|
0.00005
|
NM_000033.4(ABCD1):c.1092C>T (p.Ala364=)
|
rs782250326
|
0.00005
|
NM_000033.4(ABCD1):c.414C>T (p.Leu138=)
|
rs782197275
|
0.00005
|
NM_000046.5(ARSB):c.54G>A (p.Leu18=)
|
rs142781021
|
0.00005
|
NM_000048.4(ASL):c.75C>T (p.Asn25=)
|
rs370260834
|
0.00005
|
NM_000052.7(ATP7A):c.1020G>A (p.Pro340=)
|
rs372232940
|
0.00005
|
NM_000052.7(ATP7A):c.1722G>A (p.Thr574=)
|
rs207478437
|
0.00005
|
NM_000052.7(ATP7A):c.2673T>G (p.Ala891=)
|
rs782154912
|
0.00005
|
NM_000052.7(ATP7A):c.3480G>A (p.Ser1160=)
|
rs144293453
|
0.00005
|
NM_000052.7(ATP7A):c.475G>A (p.Ala159Thr)
|
rs188836609
|
0.00005
|
NM_000053.4(ATP7B):c.2310C>G (p.Leu770=)
|
rs398123136
|
0.00005
|
NM_000057.4(BLM):c.1194C>T (p.Asn398=)
|
rs202103556
|
0.00005
|
NM_000057.4(BLM):c.2025G>A (p.Ala675=)
|
rs781424357
|
0.00005
|
NM_000057.4(BLM):c.2049A>G (p.Glu683=)
|
rs201440695
|
0.00005
|
NM_000057.4(BLM):c.4224G>A (p.Pro1408=)
|
rs774367622
|
0.00005
|
NM_000070.3(CAPN3):c.1437C>T (p.Ser479=)
|
rs147914333
|
0.00005
|
NM_000071.3(CBS):c.1074G>A (p.Val358=)
|
rs570135008
|
0.00005
|
NM_000091.5(COL4A3):c.4482G>A (p.Leu1494=)
|
rs181952966
|
0.00005
|
NM_000094.4(COL7A1):c.8202C>T (p.Gly2734=)
|
rs200292228
|
0.00005
|
NM_000133.4(F9):c.523C>T (p.Pro175Ser)
|
rs762986355
|
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_000152.5(GAA):c.2418G>A (p.Thr806=)
|
rs371528938
|
0.00005
|
NM_000158.4(GBE1):c.1392C>T (p.Leu464=)
|
rs563241317
|
0.00005
|
NM_000166.6(GJB1):c.627G>T (p.Val209=)
|
rs376113695
|
0.00005
|
NM_000169.3(GLA):c.891T>C (p.Ser297=)
|
rs782575087
|
0.00005
|
NM_000195.5(HPS1):c.1585A>G (p.Ile529Val)
|
rs569192835
|
0.00005
|
NM_000198.4(HSD3B2):c.13T>A (p.Cys5Ser)
|
rs376207606
|
0.00005
|
NM_000198.4(HSD3B2):c.143-7C>T
|
rs200483303
|
0.00005
|
NM_000198.4(HSD3B2):c.246C>T (p.Ala82=)
|
rs587717286
|
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_000206.3(IL2RG):c.130A>G (p.Thr44Ala)
|
rs7885041
|
0.00005
|
NM_000206.3(IL2RG):c.332T>C (p.Ile111Thr)
|
rs778229878
|
0.00005
|
NM_000206.3(IL2RG):c.786C>T (p.Ala262=)
|
rs374370835
|
0.00005
|
NM_000235.4(LIPA):c.342C>T (p.Asp114=)
|
rs371133960
|
0.00005
|
NM_000243.3(MEFV):c.2337G>C (p.Gly779=)
|
rs104895153
|
0.00005
|
NM_000246.4(CIITA):c.2523G>T (p.Thr841=)
|
rs780897648
|
0.00005
|
NM_000252.3(MTM1):c.1376A>G (p.Asn459Ser)
|
rs587783785
|
0.00005
|
NM_000252.3(MTM1):c.1793A>G (p.His598Arg)
|
rs201373390
|
0.00005
|
NM_000252.3(MTM1):c.546T>C (p.His182=)
|
rs782217349
|
0.00005
|
NM_000252.3(MTM1):c.620G>A (p.Arg207His)
|
rs187357952
|
0.00005
|
NM_000260.4(MYO7A):c.2601C>T (p.Leu867=)
|
rs782554940
|
0.00005
|
NM_000274.4(OAT):c.582C>T (p.Tyr194=)
|
rs754489812
|
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_000289.6(PFKM):c.1476C>T (p.Gly492=)
|
rs200847712
|
0.00005
|
NM_000317.3(PTS):c.132C>T (p.Asn44=)
|
rs763556416
|
0.00005
|
NM_000317.3(PTS):c.318G>A (p.Thr106=)
|
rs568878711
|
0.00005
|
NM_000359.3(TGM1):c.2439T>C (p.Ser813=)
|
rs778402369
|
0.00005
|
NM_000360.4(TH):c.192C>T (p.Pro64=)
|
rs767080132
|
0.00005
|
NM_000360.4(TH):c.678C>T (p.Ala226=)
|
rs139619260
|
0.00005
|
NM_000397.4(CYBB):c.1701G>A (p.Lys567=)
|
rs140774378
|
0.00005
|
NM_000466.3(PEX1):c.1441G>A (p.Val481Ile)
|
rs139919229
|
0.00005
|
NM_000481.4(AMT):c.231G>A (p.Ser77=)
|
rs779002947
|
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_000492.4(CFTR):c.2475C>T (p.Asn825=)
|
rs746961486
|
0.00005
|
NM_000492.4(CFTR):c.3204C>T (p.Phe1068=)
|
rs1800116
|
0.00005
|
NM_000492.4(CFTR):c.66A>G (p.Pro22=)
|
rs748899228
|
0.00005
|
NM_000498.3(CYP11B2):c.1209A>G (p.Val403=)
|
rs762539427
|
0.00005
|
NM_000498.3(CYP11B2):c.702C>T (p.Thr234=)
|
rs771614097
|
0.00005
|
NM_000518.4(HBB):c.220G>A (p.Asp74Asn)
|
rs33945705
|
0.00005
|
NM_000521.4(HEXB):c.1035A>C (p.Pro345=)
|
rs202227927
|
0.00005
|
NM_000531.6(OTC):c.372C>T (p.Leu124=)
|
rs201070935
|
0.00005
|
NM_000543.5(SMPD1):c.1764G>A (p.Thr588=)
|
rs774989668
|
0.00005
|
NM_000543.5(SMPD1):c.618C>T (p.Leu206=)
|
rs776180872
|
0.00005
|
NM_000784.4(CYP27A1):c.1152G>A (p.Pro384=)
|
rs373428306
|
0.00005
|
NM_001017420.3(ESCO2):c.393C>T (p.Val131=)
|
rs552661510
|
0.00005
|
NM_001042432.2(CLN3):c.615C>T (p.Ala205=)
|
rs145631076
|
0.00005
|
NM_001127671.2(LIFR):c.2529A>G (p.Pro843=)
|
rs779533679
|
0.00005
|
NM_001130987.2(DYSF):c.3114G>A (p.Pro1038=)
|
rs398123778
|
0.00005
|
NM_001130987.2(DYSF):c.4821C>T (p.His1607=)
|
rs771742780
|
0.00005
|
NM_001142800.2(EYS):c.2316C>T (p.Ser772=)
|
rs914387501
|
0.00005
|
NM_001142800.2(EYS):c.390A>G (p.Leu130=)
|
rs758943572
|
0.00005
|
NM_001142800.2(EYS):c.7257T>C (p.Ser2419=)
|
rs768229148
|
0.00005
|
NM_001142800.2(EYS):c.9186C>T (p.Asn3062=)
|
rs1203358626
|
0.00005
|
NM_001164277.2(SLC37A4):c.1026G>A (p.Ser342=)
|
rs782777751
|
0.00005
|
NM_001164508.2(NEB):c.11712G>A (p.Lys3904=)
|
rs767231395
|
0.00005
|
NM_001164508.2(NEB):c.13044C>T (p.Tyr4348=)
|
rs1167279039
|
0.00005
|
NM_001164508.2(NEB):c.17832C>T (p.Asp5944=)
|
rs544453966
|
0.00005
|
NM_001164508.2(NEB):c.24820T>C (p.Leu8274=)
|
rs372203426
|
0.00005
|
NM_001164508.2(NEB):c.9768C>T (p.Tyr3256=)
|
rs747458739
|
0.00005
|
NM_001174089.2(SLC4A11):c.1671C>T (p.Thr557=)
|
rs370182539
|
0.00005
|
NM_001283009.2(RTEL1):c.1752G>A (p.Ala584=)
|
rs113304555
|
0.00005
|
NM_001283009.2(RTEL1):c.2256C>T (p.Ala752=)
|
rs546705390
|
0.00005
|
NM_001283009.2(RTEL1):c.2308G>A (p.Gly770Arg)
|
rs537754916
|
0.00005
|
NM_001369.3(DNAH5):c.2307C>T (p.Ala769=)
|
rs773547505
|
0.00005
|
NM_001370658.1(BTD):c.1188C>T (p.His396=)
|
rs372039874
|
0.00005
|
NM_001370658.1(BTD):c.48C>T (p.Tyr16=)
|
rs201823743
|
0.00005
|
NM_001378454.1(ALMS1):c.8918C>T (p.Ala2973Val)
|
rs202110907
|
0.00005
|
NM_001378454.1(ALMS1):c.8961T>A (p.Leu2987=)
|
rs201937708
|
0.00005
|
NM_001384140.1(PCDH15):c.2026C>T (p.Leu676=)
|
rs746162109
|
0.00005
|
NM_001384474.1(LOXHD1):c.3219A>G (p.Thr1073=)
|
rs748419853
|
0.00005
|
NM_001384474.1(LOXHD1):c.4068G>A (p.Arg1356=)
|
rs539688337
|
0.00005
|
NM_001875.5(CPS1):c.1632G>A (p.Thr544=)
|
rs755530984
|
0.00005
|
NM_001875.5(CPS1):c.3121C>T (p.Leu1041=)
|
rs146064786
|
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_002225.5(IVD):c.111T>C (p.Asp37=)
|
rs887220079
|
0.00005
|
NM_002225.5(IVD):c.1122C>T (p.Asp374=)
|
rs372504234
|
0.00005
|
NM_002225.5(IVD):c.303C>T (p.Ser101=)
|
rs749482459
|
0.00005
|
NM_002435.3(MPI):c.132G>A (p.Lys44=)
|
rs778577329
|
0.00005
|
NM_002529.4(NTRK1):c.375C>T (p.Asn125=)
|
rs757803799
|
0.00005
|
NM_002778.4(PSAP):c.1389C>T (p.Ile463=)
|
rs762811199
|
0.00005
|
NM_003227.4(TFR2):c.2346G>A (p.Thr782=)
|
rs367723987
|
0.00005
|
NM_003640.5(ELP1):c.2799G>A (p.Arg933=)
|
rs367974002
|
0.00005
|
NM_003640.5(ELP1):c.3360T>C (p.Tyr1120=)
|
rs766875245
|
0.00005
|
NM_003640.5(ELP1):c.617T>G (p.Phe206Cys)
|
rs184739734
|
0.00005
|
NM_003659.4(AGPS):c.1539C>T (p.Tyr513=)
|
rs980211710
|
0.00005
|
NM_003742.4(ABCB11):c.282C>T (p.Asp94=)
|
rs775605577
|
0.00005
|
NM_004006.3(DMD):c.10224T>A (p.Thr3408=)
|
rs774389538
|
0.00005
|
NM_004006.3(DMD):c.10577G>A (p.Arg3526His)
|
rs139547504
|
0.00005
|
NM_004006.3(DMD):c.1383T>C (p.Asn461=)
|
rs373729675
|
0.00005
|
NM_004006.3(DMD):c.145C>T (p.Arg49Cys)
|
rs147548697
|
0.00005
|
NM_004006.3(DMD):c.1688G>A (p.Arg563His)
|
rs191197223
|
0.00005
|
NM_004006.3(DMD):c.1713T>A (p.Phe571Leu)
|
rs587782936
|
0.00005
|
NM_004006.3(DMD):c.2245A>G (p.Ile749Val)
|
rs771803281
|
0.00005
|
NM_004006.3(DMD):c.2607G>C (p.Gln869His)
|
rs398123898
|
0.00005
|
NM_004006.3(DMD):c.2667A>T (p.Arg889=)
|
rs759593799
|
0.00005
|
NM_004006.3(DMD):c.3046C>T (p.Arg1016Trp)
|
rs199808421
|
0.00005
|
NM_004006.3(DMD):c.3269A>T (p.Gln1090Leu)
|
rs747239076
|
0.00005
|
NM_004006.3(DMD):c.3375G>A (p.Ser1125=)
|
rs191164314
|
0.00005
|
NM_004006.3(DMD):c.3419A>T (p.His1140Leu)
|
rs201297190
|
0.00005
|
NM_004006.3(DMD):c.3432+8C>A
|
rs781003275
|
0.00005
|
NM_004006.3(DMD):c.3936G>C (p.Leu1312Phe)
|
rs377156960
|
0.00005
|
NM_004006.3(DMD):c.5013A>G (p.Leu1671=)
|
rs747877998
|
0.00005
|
NM_004006.3(DMD):c.5280C>T (p.Leu1760=)
|
rs776420984
|
0.00005
|
NM_004006.3(DMD):c.603C>T (p.Asn201=)
|
rs750180929
|
0.00005
|
NM_004006.3(DMD):c.6132T>C (p.Ser2044=)
|
rs761338933
|
0.00005
|
NM_004006.3(DMD):c.7781A>G (p.Gln2594Arg)
|
rs777178221
|
0.00005
|
NM_004006.3(DMD):c.7914T>C (p.Asp2638=)
|
rs754997935
|
0.00005
|
NM_004006.3(DMD):c.8322G>A (p.Leu2774=)
|
rs72466575
|
0.00005
|
NM_004006.3(DMD):c.8718G>A (p.Lys2906=)
|
rs377178242
|
0.00005
|
NM_004006.3(DMD):c.8886C>T (p.Pro2962=)
|
rs371648038
|
0.00005
|
NM_004035.7(ACOX1):c.840T>C (p.Phe280=)
|
rs201023888
|
0.00005
|
NM_004553.6(NDUFS6):c.117C>G (p.Val39=)
|
rs556405335
|
0.00005
|
NM_004646.4(NPHS1):c.1185T>C (p.Gly395=)
|
rs149815919
|
0.00005
|
NM_004646.4(NPHS1):c.3027C>T (p.Tyr1009=)
|
rs762184939
|
0.00005
|
NM_005629.4(SLC6A8):c.1646A>C (p.Asn549Thr)
|
rs782790088
|
0.00005
|
NM_005629.4(SLC6A8):c.1884C>T (p.Val628=)
|
rs782808736
|
0.00005
|
NM_005957.5(MTHFR):c.1378C>T (p.Leu460=)
|
rs200180238
|
0.00005
|
NM_005957.5(MTHFR):c.1626T>C (p.Asn542=)
|
rs190046545
|
0.00005
|
NM_006096.4(NDRG1):c.69C>A (p.Ile23=)
|
rs369862936
|
0.00005
|
NM_007259.5(VPS45):c.939G>A (p.Ala313=)
|
rs142461153
|
0.00005
|
NM_012203.2(GRHPR):c.342C>T (p.Leu114=)
|
rs374108537
|
0.00005
|
NM_014049.5(ACAD9):c.1650C>G (p.Ala550=)
|
rs559422558
|
0.00005
|
NM_014049.5(ACAD9):c.1717G>A (p.Val573Met)
|
rs138264216
|
0.00005
|
NM_014244.5(ADAMTS2):c.3573A>G (p.Arg1191=)
|
rs540177122
|
0.00005
|
NM_014249.4(NR2E3):c.1082A>G (p.His361Arg)
|
rs537337423
|
0.00005
|
NM_014249.4(NR2E3):c.1146T>G (p.Thr382=)
|
rs774464533
|
0.00005
|
NM_014249.4(NR2E3):c.449C>T (p.Pro150Leu)
|
rs777140312
|
0.00005
|
NM_014251.3(SLC25A13):c.960A>G (p.Pro320=)
|
rs765358773
|
0.00005
|
NM_014363.6(SACS):c.10980C>T (p.Pro3660=)
|
rs141353693
|
0.00005
|
NM_014363.6(SACS):c.1152T>G (p.Thr384=)
|
rs185643322
|
0.00005
|
NM_014844.5(TECPR2):c.3912C>T (p.Thr1304=)
|
rs748689796
|
0.00005
|
NM_014844.5(TECPR2):c.72G>A (p.Pro24=)
|
rs201004031
|
0.00005
|
NM_015474.4(SAMHD1):c.114C>G (p.Leu38=)
|
rs757642528
|
0.00005
|
NM_015627.3(LDLRAP1):c.75T>A (p.Gly25=)
|
rs1057515462
|
0.00005
|
NM_017739.4(POMGNT1):c.1540-6C>T
|
rs770449394
|
0.00005
|
NM_017739.4(POMGNT1):c.1758C>T (p.Asp586=)
|
rs376138855
|
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_022124.6(CDH23):c.1410C>T (p.Tyr470=)
|
rs549569431
|
0.00005
|
NM_022124.6(CDH23):c.2419C>T (p.Leu807=)
|
rs748582000
|
0.00005
|
NM_022124.6(CDH23):c.30C>T (p.His10=)
|
rs572955107
|
0.00005
|
NM_022124.6(CDH23):c.3106+11G>A
|
rs759689776
|
0.00005
|
NM_022124.6(CDH23):c.330C>T (p.His110=)
|
rs201232514
|
0.00005
|
NM_022124.6(CDH23):c.8913C>T (p.Phe2971=)
|
rs915502924
|
0.00005
|
NM_024120.5(NDUFAF5):c.189C>G (p.Pro63=)
|
rs143178200
|
0.00005
|
NM_024649.5(BBS1):c.1773G>A (p.Ala591=)
|
rs147783319
|
0.00005
|
NM_025215.6(PUS1):c.564C>T (p.Gly188=)
|
rs369250859
|
0.00005
|
NM_033305.3(VPS13A):c.2160C>T (p.Tyr720=)
|
rs748268509
|
0.00005
|
NM_033305.3(VPS13A):c.2964+5G>A
|
rs139516538
|
0.00005
|
NM_033305.3(VPS13A):c.5970C>G (p.Val1990=)
|
rs191925614
|
0.00005
|
NM_033305.3(VPS13A):c.723T>C (p.Asn241=)
|
rs749945516
|
0.00005
|
NM_033305.3(VPS13A):c.8953+7A>G
|
rs375621860
|
0.00005
|
NM_033305.3(VPS13A):c.9105T>C (p.Ser3035=)
|
rs149474259
|
0.00005
|
NM_033380.3(COL4A5):c.1584A>G (p.Leu528=)
|
rs370355907
|
0.00005
|
NM_033380.3(COL4A5):c.4209C>T (p.Gly1403=)
|
rs752953167
|
0.00005
|
NM_057176.3(BSND):c.909C>T (p.Ala303=)
|
rs756452755
|
0.00005
|
NM_130849.4(SLC39A4):c.558G>C (p.Leu186=)
|
rs199632014
|
0.00005
|
NM_138694.4(PKHD1):c.11224G>A (p.Ala3742Thr)
|
rs557211301
|
0.00005
|
NM_138694.4(PKHD1):c.11607C>T (p.Ala3869=)
|
rs752509045
|
0.00005
|
NM_138694.4(PKHD1):c.2184G>A (p.Leu728=)
|
rs926797825
|
0.00005
|
NM_138694.4(PKHD1):c.3183C>T (p.Val1061=)
|
rs759939735
|
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_201253.3(CRB1):c.447C>T (p.His149=)
|
rs576678571
|
0.00005
|
NM_201525.4(ADGRG1):c.1491C>T (p.Leu497=)
|
rs369114425
|
0.00005
|
NM_201548.5(CERKL):c.15G>A (p.Arg5=)
|
rs762405291
|
0.00005
|
NM_206933.4(USH2A):c.14760C>T (p.Ser4920=)
|
rs778669346
|
0.00005
|
NM_206933.4(USH2A):c.9110G>A (p.Arg3037His)
|
rs533700989
|
0.00005
|
NM_000016.6(ACADM):c.426G>A (p.Lys142=)
|
rs565131848
|
0.00004
|
NM_000016.6(ACADM):c.960A>G (p.Ser320=)
|
rs138728545
|
0.00004
|
NM_000018.4(ACADVL):c.255T>C (p.Asp85=)
|
rs201085520
|
0.00004
|
NM_000019.4(ACAT1):c.384A>G (p.Ser128=)
|
rs374439037
|
0.00004
|
NM_000019.4(ACAT1):c.918T>A (p.Val306=)
|
rs200318899
|
0.00004
|
NM_000027.4(AGA):c.645A>G (p.Thr215=)
|
rs201441868
|
0.00004
|
NM_000033.4(ABCD1):c.600C>T (p.Asp200=)
|
rs782724538
|
0.00004
|
NM_000051.4(ATM):c.1953A>G (p.Leu651=)
|
rs730881283
|
0.00004
|
NM_000051.4(ATM):c.2610C>T (p.Asn870=)
|
rs587780618
|
0.00004
|
NM_000051.4(ATM):c.8391T>C (p.Ser2797=)
|
rs566485657
|
0.00004
|
NM_000052.7(ATP7A):c.2499-7T>C
|
rs782260332
|
0.00004
|
NM_000052.7(ATP7A):c.729G>A (p.Lys243=)
|
rs782326318
|
0.00004
|
NM_000053.4(ATP7B):c.3885C>T (p.Ala1295=)
|
rs200597654
|
0.00004
|
NM_000057.4(BLM):c.201T>C (p.Val67=)
|
rs563887813
|
0.00004
|
NM_000057.4(BLM):c.2721G>A (p.Thr907=)
|
rs1009065257
|
0.00004
|
NM_000057.4(BLM):c.3117A>G (p.Ile1039Met)
|
rs576199850
|
0.00004
|
NM_000070.3(CAPN3):c.1557C>T (p.His519=)
|
rs368385372
|
0.00004
|
NM_000080.4(CHRNE):c.1071G>A (p.Pro357=)
|
rs772143528
|
0.00004
|
NM_000080.4(CHRNE):c.1374C>T (p.Cys458=)
|
rs201030784
|
0.00004
|
NM_000080.4(CHRNE):c.15G>A (p.Pro5=)
|
rs756933520
|
0.00004
|
NM_000091.5(COL4A3):c.1917C>T (p.Pro639=)
|
rs369320502
|
0.00004
|
NM_000091.5(COL4A3):c.2133A>G (p.Gln711=)
|
rs527383673
|
0.00004
|
NM_000091.5(COL4A3):c.516C>T (p.Asp172=)
|
rs759455097
|
0.00004
|
NM_000092.5(COL4A4):c.1665G>A (p.Ala555=)
|
rs137880920
|
0.00004
|
NM_000092.5(COL4A4):c.4975T>C (p.Leu1659=)
|
rs368044748
|
0.00004
|
NM_000094.4(COL7A1):c.3063C>T (p.Gly1021=)
|
rs139371408
|
0.00004
|
NM_000094.4(COL7A1):c.3555T>G (p.Leu1185=)
|
rs769937344
|
0.00004
|
NM_000094.4(COL7A1):c.4704C>T (p.Thr1568=)
|
rs573530168
|
0.00004
|
NM_000094.4(COL7A1):c.675C>T (p.Thr225=)
|
rs756726621
|
0.00004
|
NM_000094.4(COL7A1):c.903C>T (p.Thr301=)
|
rs369040036
|
0.00004
|
NM_000103.4(CYP19A1):c.823T>C (p.Cys275Arg)
|
rs201118855
|
0.00004
|
NM_000117.3(EMD):c.171C>T (p.Ser57=)
|
rs900267221
|
0.00004
|
NM_000117.3(EMD):c.585A>G (p.Ser195=)
|
rs140970151
|
0.00004
|
NM_000128.4(F11):c.111G>A (p.Thr37=)
|
rs762996950
|
0.00004
|
NM_000128.4(F11):c.96A>C (p.Gly32=)
|
rs368183250
|
0.00004
|
NM_000133.4(F9):c.*10G>C
|
rs186616567
|
0.00004
|
NM_000133.4(F9):c.582T>G (p.Thr194=)
|
rs754155651
|
0.00004
|
NM_000133.4(F9):c.730T>C (p.Leu244=)
|
rs765470577
|
0.00004
|
NM_000133.4(F9):c.834C>T (p.Val278=)
|
rs199844858
|
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_000137.4(FAH):c.408C>T (p.Asn136=)
|
rs111972793
|
0.00004
|
NM_000137.4(FAH):c.441G>A (p.Ala147=)
|
rs141863249
|
0.00004
|
NM_000137.4(FAH):c.975G>C (p.Thr325=)
|
rs776473288
|
0.00004
|
NM_000152.5(GAA):c.1416C>T (p.Thr472=)
|
rs368492669
|
0.00004
|
NM_000154.2(GALK1):c.1077C>T (p.Ser359=)
|
rs376050836
|
0.00004
|
NM_000191.3(HMGCL):c.717T>G (p.Gly239=)
|
rs370708710
|
0.00004
|
NM_000195.5(HPS1):c.1940+9G>A
|
rs757142456
|
0.00004
|
NM_000195.5(HPS1):c.204C>T (p.Thr68=)
|
rs149759513
|
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_000235.4(LIPA):c.76C>T (p.Leu26=)
|
rs377437637
|
0.00004
|
NM_000237.3(LPL):c.1338T>C (p.Ser446=)
|
rs146509813
|
0.00004
|
NM_000243.3(MEFV):c.1527C>T (p.Leu509=)
|
rs571832030
|
0.00004
|
NM_000243.3(MEFV):c.2109C>T (p.Ser703=)
|
rs104895118
|
0.00004
|
NM_000243.3(MEFV):c.948C>T (p.His316=)
|
rs150252937
|
0.00004
|
NM_000246.4(CIITA):c.1560G>A (p.Ala520=)
|
rs781538086
|
0.00004
|
NM_000246.4(CIITA):c.1695G>A (p.Glu565=)
|
rs766945455
|
0.00004
|
NM_000246.4(CIITA):c.1834A>G (p.Thr612Ala)
|
rs142257962
|
0.00004
|
NM_000246.4(CIITA):c.2154G>A (p.Gly718=)
|
rs201455192
|
0.00004
|
NM_000252.3(MTM1):c.1695C>T (p.Asp565=)
|
rs140744506
|
0.00004
|
NM_000252.3(MTM1):c.230C>T (p.Thr77Met)
|
rs782640338
|
0.00004
|
NM_000252.3(MTM1):c.66G>A (p.Thr22=)
|
rs781793926
|
0.00004
|
NM_000260.4(MYO7A):c.444C>T (p.Asn148=)
|
rs1253765162
|
0.00004
|
NM_000260.4(MYO7A):c.5466C>T (p.Thr1822=)
|
rs548620787
|
0.00004
|
NM_000263.4(NAGLU):c.1899C>T (p.Ala633=)
|
rs767268083
|
0.00004
|
NM_000271.5(NPC1):c.123T>C (p.Asn41=)
|
rs777848348
|
0.00004
|
NM_000282.4(PCCA):c.645T>G (p.Pro215=)
|
rs751840442
|
0.00004
|
NM_000284.4(PDHA1):c.126C>G (p.Asp42Glu)
|
rs759331650
|
0.00004
|
NM_000288.4(PEX7):c.171G>C (p.Gly57=)
|
rs750791932
|
0.00004
|
NM_000329.3(RPE65):c.75G>A (p.Pro25=)
|
rs199529021
|
0.00004
|
NM_000329.3(RPE65):c.94+10G>A
|
rs777879312
|
0.00004
|
NM_000329.3(RPE65):c.942C>T (p.His314=)
|
rs752875512
|
0.00004
|
NM_000352.6(ABCC8):c.4703G>A (p.Arg1568Gln)
|
rs374743072
|
0.00004
|
NM_000352.6(ABCC8):c.495G>A (p.Ser165=)
|
rs369136858
|
0.00004
|
NM_000360.4(TH):c.132C>T (p.Asp44=)
|
rs767310984
|
0.00004
|
NM_000360.4(TH):c.1470C>G (p.Ala490=)
|
rs777477661
|
0.00004
|
NM_000360.4(TH):c.24G>A (p.Thr8=)
|
rs529205525
|
0.00004
|
NM_000397.4(CYBB):c.1413C>T (p.Ala471=)
|
rs782094378
|
0.00004
|
NM_000397.4(CYBB):c.171A>G (p.Ala57=)
|
rs781824754
|
0.00004
|
NM_000397.4(CYBB):c.348C>T (p.Thr116=)
|
rs782735382
|
0.00004
|
NM_000397.4(CYBB):c.388C>A (p.Arg130=)
|
rs180899069
|
0.00004
|
NM_000414.4(HSD17B4):c.1131C>T (p.Phe377=)
|
rs200347945
|
0.00004
|
NM_000441.2(SLC26A4):c.1287G>A (p.Ala429=)
|
rs778271465
|
0.00004
|
NM_000441.2(SLC26A4):c.147C>G (p.Ser49Arg)
|
rs756969021
|
0.00004
|
NM_000478.6(ALPL):c.398C>G (p.Ala133Gly)
|
rs184095519
|
0.00004
|
NM_000487.6(ARSA):c.1006C>T (p.Leu336=)
|
rs778950224
|
0.00004
|
NM_000487.6(ARSA):c.591C>T (p.Pro197=)
|
rs34457249
|
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_000492.4(CFTR):c.1227T>C (p.Phe409=)
|
rs778548877
|
0.00004
|
NM_000492.4(CFTR):c.393T>C (p.Phe131=)
|
rs1039221071
|
0.00004
|
NM_000518.5(HBB):c.180G>A (p.Lys60=)
|
rs34621955
|
0.00004
|
NM_000520.6(HEXA):c.1231G>A (p.Gly411Ser)
|
rs575121167
|
0.00004
|
NM_000527.5(LDLR):c.1279A>C (p.Arg427=)
|
rs371355878
|
0.00004
|
NM_000527.5(LDLR):c.1380C>T (p.His460=)
|
rs768883894
|
0.00004
|
NM_000527.5(LDLR):c.1402G>A (p.Val468Ile)
|
rs5932
|
0.00004
|
NM_000527.5(LDLR):c.2575G>A (p.Val859Met)
|
rs202049029
|
0.00004
|
NM_000528.4(MAN2B1):c.966T>C (p.Tyr322=)
|
rs762918325
|
0.00004
|
NM_000531.6(OTC):c.85C>G (p.Gln29Glu)
|
rs752916728
|
0.00004
|
NM_000532.5(PCCB):c.1371C>T (p.Thr457=)
|
rs140630332
|
0.00004
|
NM_000536.4(RAG2):c.1443T>C (p.His481=)
|
rs560115611
|
0.00004
|
NM_000543.5(SMPD1):c.1599G>A (p.Pro533=)
|
rs552841217
|
0.00004
|
NM_000642.3(AGL):c.174T>C (p.Asn58=)
|
rs779677453
|
0.00004
|
NM_000709.4(BCKDHA):c.1080C>T (p.Pro360=)
|
rs373390136
|
0.00004
|
NM_000784.4(CYP27A1):c.1509G>A (p.Pro503=)
|
rs577558935
|
0.00004
|
NM_001003722.2(GLE1):c.1542C>T (p.Pro514=)
|
rs536855777
|
0.00004
|
NM_001003722.2(GLE1):c.1566T>G (p.Ala522=)
|
rs754796237
|
0.00004
|
NM_001017420.3(ESCO2):c.742A>G (p.Thr248Ala)
|
rs750159862
|
0.00004
|
NM_001033855.3(DCLRE1C):c.1491T>C (p.Asp497=)
|
rs114767681
|
0.00004
|
NM_001033855.3(DCLRE1C):c.915G>A (p.Val305=)
|
rs774772480
|
0.00004
|
NM_001079802.2(FKTN):c.207T>C (p.Asn69=)
|
rs752921570
|
0.00004
|
NM_001122769.3(LCA5):c.1800A>G (p.Lys600=)
|
rs147032284
|
0.00004
|
NM_001126108.2(SLC12A3):c.1956C>A (p.Pro652=)
|
rs200091201
|
0.00004
|
NM_001126108.2(SLC12A3):c.2514C>T (p.Asp838=)
|
rs142297310
|
0.00004
|
NM_001127671.2(LIFR):c.1080G>A (p.Ala360=)
|
rs769294023
|
0.00004
|
NM_001127671.2(LIFR):c.1974C>T (p.Val658=)
|
rs762685098
|
0.00004
|
NM_001127671.2(LIFR):c.2217G>A (p.Ser739=)
|
rs747295716
|
0.00004
|
NM_001130987.2(DYSF):c.1683C>T (p.Asn561=)
|
rs374809515
|
0.00004
|
NM_001130987.2(DYSF):c.1985-4C>G
|
rs374489513
|
0.00004
|
NM_001130987.2(DYSF):c.2148G>A (p.Ala716=)
|
rs201239189
|
0.00004
|
NM_001130987.2(DYSF):c.2820C>T (p.Ala940=)
|
rs373328706
|
0.00004
|
NM_001130987.2(DYSF):c.3228+7C>T
|
rs534331009
|
0.00004
|
NM_001130987.2(DYSF):c.5916C>G (p.Pro1972=)
|
rs375483537
|
0.00004
|
NM_001134793.2(HYLS1):c.822A>G (p.Ala274=)
|
rs777216787
|
0.00004
|
NM_001142800.2(EYS):c.4275T>C (p.Thr1425=)
|
rs770430429
|
0.00004
|
NM_001142800.2(EYS):c.6891G>A (p.Lys2297=)
|
rs1297093544
|
0.00004
|
NM_001164508.2(NEB):c.10074C>T (p.His3358=)
|
rs896373241
|
0.00004
|
NM_001164508.2(NEB):c.10986C>T (p.Tyr3662=)
|
rs373365702
|
0.00004
|
NM_001164508.2(NEB):c.11697C>A (p.Ile3899=)
|
rs755871388
|
0.00004
|
NM_001164508.2(NEB):c.1386C>T (p.Tyr462=)
|
rs376911383
|
0.00004
|
NM_001164508.2(NEB):c.17415C>T (p.Tyr5805=)
|
rs555516831
|
0.00004
|
NM_001164508.2(NEB):c.17845-6C>T
|
rs376370460
|
0.00004
|
NM_001164508.2(NEB):c.19476C>T (p.Ile6492=)
|
rs113068669
|
0.00004
|
NM_001164508.2(NEB):c.20940G>A (p.Thr6980=)
|
rs369611234
|
0.00004
|
NM_001164508.2(NEB):c.4593C>T (p.Asn1531=)
|
rs373328073
|
0.00004
|
NM_001164508.2(NEB):c.5229C>T (p.Asn1743=)
|
rs769446481
|
0.00004
|
NM_001164508.2(NEB):c.7134C>T (p.Asp2378=)
|
rs752098313
|
0.00004
|
NM_001174089.2(SLC4A11):c.1926C>T (p.Val642=)
|
rs755545377
|
0.00004
|
NM_001174089.2(SLC4A11):c.242-5G>A
|
rs775424811
|
0.00004
|
NM_001201543.2(FAM161A):c.1554A>G (p.Val518=)
|
rs752639878
|
0.00004
|
NM_001201543.2(FAM161A):c.228G>A (p.Pro76=)
|
rs776173729
|
0.00004
|
NM_001201543.2(FAM161A):c.924G>A (p.Arg308=)
|
rs1017182965
|
0.00004
|
NM_001283009.2(RTEL1):c.1239A>G (p.Ala413=)
|
rs745951995
|
0.00004
|
NM_001283009.2(RTEL1):c.147G>A (p.Thr49=)
|
rs114124243
|
0.00004
|
NM_001283009.2(RTEL1):c.2061G>A (p.Ala687=)
|
rs201842671
|
0.00004
|
NM_001283009.2(RTEL1):c.2151T>C (p.Phe717=)
|
rs751146876
|
0.00004
|
NM_001283009.2(RTEL1):c.987C>T (p.Ile329=)
|
rs763882822
|
0.00004
|
NM_001352514.2(HLCS):c.918A>G (p.Gly306=)
|
rs767988985
|
0.00004
|
NM_001360.3(DHCR7):c.159C>T (p.Ile53=)
|
rs752952700
|
0.00004
|
NM_001365088.1(SLC12A6):c.924C>G (p.Leu308=)
|
rs372465430
|
0.00004
|
NM_001369.3(DNAH5):c.3086A>T (p.Asp1029Val)
|
rs201338727
|
0.00004
|
NM_001369.3(DNAH5):c.5157C>T (p.Phe1719=)
|
rs749688197
|
0.00004
|
NM_001369.3(DNAH5):c.6957G>A (p.Thr2319=)
|
rs202042219
|
0.00004
|
NM_001369.3(DNAH5):c.888G>A (p.Lys296=)
|
rs758680247
|
0.00004
|
NM_001370658.1(BTD):c.1014T>C (p.His338=)
|
rs371365798
|
0.00004
|
NM_001378454.1(ALMS1):c.10038C>T (p.Ser3346=)
|
rs375436336
|
0.00004
|
NM_001378454.1(ALMS1):c.10858A>C (p.Arg3620=)
|
rs201598829
|
0.00004
|
NM_001378454.1(ALMS1):c.11463G>A (p.Glu3821=)
|
rs750087396
|
0.00004
|
NM_001378454.1(ALMS1):c.12120G>A (p.Ser4040=)
|
rs764462322
|
0.00004
|
NM_001378454.1(ALMS1):c.1815T>G (p.Pro605=)
|
rs983651117
|
0.00004
|
NM_001378454.1(ALMS1):c.435T>C (p.Gly145=)
|
rs541827475
|
0.00004
|
NM_001378454.1(ALMS1):c.451-5T>G
|
rs774098604
|
0.00004
|
NM_001378454.1(ALMS1):c.9381C>T (p.Val3127=)
|
rs754743943
|
0.00004
|
NM_001384474.1(LOXHD1):c.1950C>T (p.Asn650=)
|
rs371762941
|
0.00004
|
NM_001384474.1(LOXHD1):c.5913T>C (p.Asp1971=)
|
rs773969803
|
0.00004
|
NM_001384474.1(LOXHD1):c.5967C>T (p.Leu1989=)
|
rs574598048
|
0.00004
|
NM_001384474.1(LOXHD1):c.6594C>T (p.Phe2198=)
|
rs981453947
|
0.00004
|
NM_001399.5(EDA):c.1080C>T (p.Ile360=)
|
rs375844339
|
0.00004
|
NM_001399.5(EDA):c.1137C>T (p.Phe379=)
|
rs780582849
|
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_002454.3(MTRR):c.27T>C (p.Ala9=)
|
rs114748706
|
0.00004
|
NM_002454.3(MTRR):c.507G>C (p.Val169=)
|
rs367609729
|
0.00004
|
NM_002485.5(NBN):c.1089C>T (p.Tyr363=)
|
rs121908974
|
0.00004
|
NM_002529.4(NTRK1):c.1902C>T (p.Val634=)
|
rs148270992
|
0.00004
|
NM_003060.4(SLC22A5):c.1101C>T (p.Asn367=)
|
rs1012487647
|
0.00004
|
NM_003227.4(TFR2):c.1193G>A (p.Arg398Gln)
|
rs202022975
|
0.00004
|
NM_003227.4(TFR2):c.2184G>A (p.Pro728=)
|
rs982999802
|
0.00004
|
NM_003384.3(VRK1):c.663C>T (p.His221=)
|
rs376006178
|
0.00004
|
NM_003640.5(ELP1):c.1536C>T (p.Asp512=)
|
rs751808911
|
0.00004
|
NM_003640.5(ELP1):c.1860T>C (p.Cys620=)
|
rs769936175
|
0.00004
|
NM_003640.5(ELP1):c.3045C>T (p.His1015=)
|
rs772697433
|
0.00004
|
NM_003640.5(ELP1):c.3456T>C (p.Gly1152=)
|
rs746303238
|
0.00004
|
NM_003640.5(ELP1):c.3561C>T (p.Ser1187=)
|
rs781284578
|
0.00004
|
NM_003659.4(AGPS):c.1335C>T (p.Asp445=)
|
rs200039061
|
0.00004
|
NM_003742.4(ABCB11):c.810G>A (p.Glu270=)
|
rs369671177
|
0.00004
|
NM_003907.3(EIF2B5):c.1044C>T (p.Val348=)
|
rs149507492
|
0.00004
|
NM_003907.3(EIF2B5):c.453G>A (p.Val151=)
|
rs376258328
|
0.00004
|
NM_004006.3(DMD):c.10086+11C>T
|
rs372337129
|
0.00004
|
NM_004006.3(DMD):c.10128A>G (p.Leu3376=)
|
rs755438733
|
0.00004
|
NM_004006.3(DMD):c.1083A>G (p.Thr361=)
|
rs767325921
|
0.00004
|
NM_004006.3(DMD):c.1503A>G (p.Glu501=)
|
rs770464589
|
0.00004
|
NM_004006.3(DMD):c.1518G>T (p.Arg506Ser)
|
rs755456119
|
0.00004
|
NM_004006.3(DMD):c.1603-6C>T
|
rs774626474
|
0.00004
|
NM_004006.3(DMD):c.1742C>T (p.Ala581Val)
|
rs763155705
|
0.00004
|
NM_004006.3(DMD):c.1848C>A (p.Ser616=)
|
rs376024929
|
0.00004
|
NM_004006.3(DMD):c.2076A>G (p.Glu692=)
|
rs764950114
|
0.00004
|
NM_004006.3(DMD):c.2623-9A>G
|
rs200997841
|
0.00004
|
NM_004006.3(DMD):c.2804T>G (p.Ile935Ser)
|
rs190247714
|
0.00004
|
NM_004006.3(DMD):c.2985C>T (p.Gly995=)
|
rs771884775
|
0.00004
|
NM_004006.3(DMD):c.3217G>A (p.Glu1073Lys)
|
rs398123931
|
0.00004
|
NM_004006.3(DMD):c.3941G>A (p.Arg1314Gln)
|
rs752767880
|
0.00004
|
NM_004006.3(DMD):c.4845+10A>G
|
rs199958675
|
0.00004
|
NM_004006.3(DMD):c.5104T>C (p.Leu1702=)
|
rs750664323
|
0.00004
|
NM_004006.3(DMD):c.5109T>C (p.Asp1703=)
|
rs141086798
|
0.00004
|
NM_004006.3(DMD):c.6358C>T (p.Leu2120=)
|
rs780793569
|
0.00004
|
NM_004006.3(DMD):c.6639G>A (p.Leu2213=)
|
rs1414566832
|
0.00004
|
NM_004006.3(DMD):c.6900C>T (p.Leu2300=)
|
rs200493074
|
0.00004
|
NM_004006.3(DMD):c.7130C>T (p.Pro2377Leu)
|
rs201262489
|
0.00004
|
NM_004006.3(DMD):c.9091G>A (p.Val3031Ile)
|
rs143426249
|
0.00004
|
NM_004006.3(DMD):c.9198G>A (p.Ser3066=)
|
rs753594128
|
0.00004
|
NM_004006.3(DMD):c.9987A>G (p.Leu3329=)
|
rs145595228
|
0.00004
|
NM_004035.7(ACOX1):c.1752G>A (p.Gln584=)
|
rs190226066
|
0.00004
|
NM_004629.2(FANCG):c.18C>T (p.Thr6=)
|
rs777459203
|
0.00004
|
NM_004646.4(NPHS1):c.2961T>C (p.Tyr987=)
|
rs201263480
|
0.00004
|
NM_004937.3(CTNS):c.510C>T (p.Phe170=)
|
rs747488464
|
0.00004
|
NM_005373.3(MPL):c.1629T>C (p.Leu543=)
|
rs150816330
|
0.00004
|
NM_005609.4(PYGM):c.1926T>C (p.Arg642=)
|
rs779048512
|
0.00004
|
NM_005629.4(SLC6A8):c.1615G>A (p.Val539Ile)
|
rs782354054
|
0.00004
|
NM_005629.4(SLC6A8):c.306A>G (p.Gly102=)
|
rs781983557
|
0.00004
|
NM_005726.6(TSFM):c.885C>T (p.Thr295=)
|
rs750718644
|
0.00004
|
NM_005957.5(MTHFR):c.1134C>T (p.Thr378=)
|
rs767306503
|
0.00004
|
NM_006019.4(TCIRG1):c.1146C>A (p.Arg382=)
|
rs753324402
|
0.00004
|
NM_006019.4(TCIRG1):c.1904C>T (p.Thr635Met)
|
rs763119311
|
0.00004
|
NM_006623.4(PHGDH):c.1116C>T (p.Pro372=)
|
rs587662790
|
0.00004
|
NM_006623.4(PHGDH):c.1254C>T (p.Phe418=)
|
rs763258512
|
0.00004
|
NM_006623.4(PHGDH):c.1575G>T (p.Val525=)
|
rs587681898
|
0.00004
|
NM_007259.5(VPS45):c.369+8T>A
|
rs201637627
|
0.00004
|
NM_012144.4(DNAI1):c.963G>A (p.Pro321=)
|
rs762694599
|
0.00004
|
NM_012243.3(SLC35A3):c.375A>T (p.Ala125=)
|
rs773812783
|
0.00004
|
NM_013339.4(ALG6):c.167+7T>C
|
rs374146302
|
0.00004
|
NM_013339.4(ALG6):c.618C>T (p.His206=)
|
rs374336458
|
0.00004
|
NM_014049.5(ACAD9):c.959-6C>T
|
rs368541873
|
0.00004
|
NM_014140.4(SMARCAL1):c.1147+8G>A
|
rs759562755
|
0.00004
|
NM_014140.4(SMARCAL1):c.1440G>A (p.Pro480=)
|
rs367557310
|
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_014363.6(SACS):c.11049T>C (p.Asn3683=)
|
rs773770705
|
0.00004
|
NM_014363.6(SACS):c.1224C>T (p.Asp408=)
|
rs2274386
|
0.00004
|
NM_014363.6(SACS):c.1913G>A (p.Cys638Tyr)
|
rs778572943
|
0.00004
|
NM_014363.6(SACS):c.5274C>T (p.Cys1758=)
|
rs201982449
|
0.00004
|
NM_014363.6(SACS):c.5461T>C (p.Cys1821Arg)
|
rs376680832
|
0.00004
|
NM_014363.6(SACS):c.6561C>T (p.Ile2187=)
|
rs143477126
|
0.00004
|
NM_014363.6(SACS):c.9788A>G (p.Glu3263Gly)
|
rs369713918
|
0.00004
|
NM_014844.5(TECPR2):c.1518G>A (p.Ser506=)
|
rs370643085
|
0.00004
|
NM_014844.5(TECPR2):c.2933+9G>A
|
rs549959695
|
0.00004
|
NM_014844.5(TECPR2):c.4119C>T (p.Pro1373=)
|
rs536343745
|
0.00004
|
NM_015166.4(MLC1):c.1032C>T (p.Asn344=)
|
rs199707637
|
0.00004
|
NM_015166.4(MLC1):c.648C>A (p.Ala216=)
|
rs765062227
|
0.00004
|
NM_015474.4(SAMHD1):c.93C>T (p.Asp31=)
|
rs754519810
|
0.00004
|
NM_015474.4(SAMHD1):c.993C>T (p.Tyr331=)
|
rs775726168
|
0.00004
|
NM_015506.3(MMACHC):c.700T>C (p.Leu234=)
|
rs199964843
|
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_022124.6(CDH23):c.1584C>T (p.Arg528=)
|
rs397517309
|
0.00004
|
NM_022124.6(CDH23):c.1665C>T (p.Asn555=)
|
rs397517310
|
0.00004
|
NM_022124.6(CDH23):c.4230C>T (p.Asp1410=)
|
rs762720558
|
0.00004
|
NM_022124.6(CDH23):c.5535C>T (p.Asn1845=)
|
rs779425775
|
0.00004
|
NM_022124.6(CDH23):c.8444G>A (p.Arg2815His)
|
rs376835293
|
0.00004
|
NM_023036.6(DNAI2):c.1194G>A (p.Ser398=)
|
rs556547267
|
0.00004
|
NM_023036.6(DNAI2):c.1407C>T (p.Cys469=)
|
rs143723454
|
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_024301.5(FKRP):c.1236C>T (p.His412=)
|
rs201076863
|
0.00004
|
NM_024312.5(GNPTAB):c.534C>G (p.Thr178=)
|
rs777525816
|
0.00004
|
NM_024649.5(BBS1):c.840G>C (p.Lys280Asn)
|
rs780169168
|
0.00004
|
NM_024685.4(BBS10):c.1412A>T (p.Asp471Val)
|
rs200718870
|
0.00004
|
NM_025114.4(CEP290):c.1905T>C (p.Asn635=)
|
rs778341097
|
0.00004
|
NM_025114.4(CEP290):c.2244T>C (p.Ser748=)
|
rs979564116
|
0.00004
|
NM_025114.4(CEP290):c.288T>C (p.Asn96=)
|
rs367691481
|
0.00004
|
NM_025216.3(WNT10A):c.1005C>T (p.Asp335=)
|
rs779449131
|
0.00004
|
NM_031885.5(BBS2):c.744T>C (p.His248=)
|
rs186893286
|
0.00004
|
NM_032383.5(HPS3):c.957C>G (p.Pro319=)
|
rs751233801
|
0.00004
|
NM_032520.5(GNPTG):c.696A>G (p.Gly232=)
|
rs746160240
|
0.00004
|
NM_033056.4(PCDH15):c.4575T>C (p.His1525=)
|
rs746377416
|
0.00004
|
NM_033056.4(PCDH15):c.4933C>T (p.Leu1645=)
|
rs61862392
|
0.00004
|
NM_033305.3(VPS13A):c.4626A>G (p.Glu1542=)
|
rs763602189
|
0.00004
|
NM_033305.3(VPS13A):c.6234C>T (p.Leu2078=)
|
rs571822890
|
0.00004
|
NM_033380.3(COL4A5):c.1043G>A (p.Arg348Lys)
|
rs377663039
|
0.00004
|
NM_033380.3(COL4A5):c.443C>T (p.Pro148Leu)
|
rs773404950
|
0.00004
|
NM_052845.4(MMAB):c.471C>T (p.Ile157=)
|
rs369581051
|
0.00004
|
NM_057176.3(BSND):c.411G>A (p.Gly137=)
|
rs758111009
|
0.00004
|
NM_057176.3(BSND):c.744G>A (p.Thr248=)
|
rs754819005
|
0.00004
|
NM_130849.4(SLC39A4):c.1068C>T (p.Val356=)
|
rs557593730
|
0.00004
|
NM_130849.4(SLC39A4):c.150G>A (p.Thr50=)
|
rs541710271
|
0.00004
|
NM_130849.4(SLC39A4):c.300C>T (p.Ala100=)
|
rs374813285
|
0.00004
|
NM_130849.4(SLC39A4):c.594C>T (p.Ala198=)
|
rs782355343
|
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_138413.4(HOGA1):c.309C>T (p.Asn103=)
|
rs772566254
|
0.00004
|
NM_138694.4(PKHD1):c.11226A>G (p.Ala3742=)
|
rs770933024
|
0.00004
|
NM_138694.4(PKHD1):c.11460C>A (p.Ile3820=)
|
rs763641339
|
0.00004
|
NM_138694.4(PKHD1):c.5535A>G (p.Gln1845=)
|
rs140036742
|
0.00004
|
NM_138694.4(PKHD1):c.75T>C (p.Ile25=)
|
rs138600204
|
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_152443.3(RDH12):c.320C>A (p.Ala107Asp)
|
rs775717423
|
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_152618.3(BBS12):c.1995T>C (p.Val665=)
|
rs771980986
|
0.00004
|
NM_152618.3(BBS12):c.2100T>C (p.Asn700=)
|
rs145847043
|
0.00004
|
NM_152618.3(BBS12):c.21C>T (p.Val7=)
|
rs754702110
|
0.00004
|
NM_153717.3(EVC):c.1896G>T (p.Arg632=)
|
rs758327867
|
0.00004
|
NM_153717.3(EVC):c.219G>A (p.Ala73=)
|
rs759816860
|
0.00004
|
NM_153717.3(EVC):c.2412C>T (p.His804=)
|
rs553232598
|
0.00004
|
NM_153717.3(EVC):c.717T>A (p.Ile239=)
|
rs372312182
|
0.00004
|
NM_178138.6(LHX3):c.93C>T (p.Cys31=)
|
rs558712702
|
0.00004
|
NM_201548.5(CERKL):c.1159+8G>A
|
rs201778792
|
0.00004
|
NM_206933.4(USH2A):c.14532G>A (p.Thr4844=)
|
rs150350278
|
0.00004
|
NM_206933.4(USH2A):c.14961G>A (p.Ala4987=)
|
rs568581229
|
0.00004
|
NM_206933.4(USH2A):c.1530C>T (p.Asp510=)
|
rs200940197
|
0.00004
|
NM_206933.4(USH2A):c.22T>C (p.Leu8=)
|
rs778803503
|
0.00004
|
NM_206933.4(USH2A):c.3780T>C (p.His1260=)
|
rs759937489
|
0.00004
|
NM_206933.4(USH2A):c.6096A>G (p.Leu2032=)
|
rs376669318
|
0.00004
|
NM_206933.4(USH2A):c.9611A>G (p.His3204Arg)
|
rs745539518
|
0.00004
|
NM_000016.6(ACADM):c.118+18T>A
|
rs755405418
|
0.00003
|
NM_000016.6(ACADM):c.657T>C (p.Phe219=)
|
rs758331876
|
0.00003
|
NM_000019.4(ACAT1):c.1028A>G (p.Lys343Arg)
|
rs149171104
|
0.00003
|
NM_000022.4(ADA):c.1065T>C (p.Pro355=)
|
rs371814756
|
0.00003
|
NM_000022.4(ADA):c.1079-7C>T
|
rs551934402
|
0.00003
|
NM_000030.3(AGXT):c.27C>A (p.Thr9=)
|
rs180177188
|
0.00003
|
NM_000033.4(ABCD1):c.1518A>T (p.Thr506=)
|
rs1557054743
|
0.00003
|
NM_000033.4(ABCD1):c.294G>T (p.Ser98=)
|
rs781954264
|
0.00003
|
NM_000033.4(ABCD1):c.436T>A (p.Phe146Ile)
|
rs782720024
|
0.00003
|
NM_000035.4(ALDOB):c.507C>T (p.Asn169=)
|
rs746351347
|
0.00003
|
NM_000046.5(ARSB):c.1500C>T (p.Ser500=)
|
rs762978908
|
0.00003
|
NM_000048.4(ASL):c.1242G>A (p.Gln414=)
|
rs144716217
|
0.00003
|
NM_000051.4(ATM):c.1332C>A (p.Pro444=)
|
rs763361384
|
0.00003
|
NM_000051.4(ATM):c.1368A>G (p.Leu456=)
|
rs750579940
|
0.00003
|
NM_000051.4(ATM):c.3237T>C (p.Ala1079=)
|
rs564238520
|
0.00003
|
NM_000051.4(ATM):c.4674G>A (p.Thr1558=)
|
rs876658474
|
0.00003
|
NM_000052.7(ATP7A):c.1386G>A (p.Pro462=)
|
rs1297787618
|
0.00003
|
NM_000052.7(ATP7A):c.1427C>T (p.Thr476Ile)
|
rs782702847
|
0.00003
|
NM_000052.7(ATP7A):c.1734C>T (p.Cys578=)
|
rs72554638
|
0.00003
|
NM_000053.4(ATP7B):c.993C>T (p.Ala331=)
|
rs377294197
|
0.00003
|
NM_000057.4(BLM):c.1245T>C (p.Asp415=)
|
rs768154708
|
0.00003
|
NM_000057.4(BLM):c.129A>G (p.Ser43=)
|
rs767605181
|
0.00003
|
NM_000057.4(BLM):c.2106T>A (p.Pro702=)
|
rs529421306
|
0.00003
|
NM_000057.4(BLM):c.345G>A (p.Pro115=)
|
rs374578971
|
0.00003
|
NM_000057.4(BLM):c.3501G>A (p.Ala1167=)
|
rs752559933
|
0.00003
|
NM_000057.4(BLM):c.3729C>T (p.Thr1243=)
|
rs747293738
|
0.00003
|
NM_000057.4(BLM):c.3921C>T (p.Pro1307=)
|
rs149286215
|
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_000080.4(CHRNE):c.802+7A>C
|
rs756213406
|
0.00003
|
NM_000091.5(COL4A3):c.1437C>T (p.Cys479=)
|
rs748691382
|
0.00003
|
NM_000091.5(COL4A3):c.3588C>G (p.Ala1196=)
|
rs767337248
|
0.00003
|
NM_000092.5(COL4A4):c.1488T>C (p.Pro496=)
|
rs1405969453
|
0.00003
|
NM_000092.5(COL4A4):c.3450T>A (p.Pro1150=)
|
rs751859861
|
0.00003
|
NM_000094.4(COL7A1):c.2907C>T (p.Ile969=)
|
rs185999235
|
0.00003
|
NM_000094.4(COL7A1):c.4782+9A>T
|
rs369635501
|
0.00003
|
NM_000094.4(COL7A1):c.540T>A (p.Pro180=)
|
rs1473537751
|
0.00003
|
NM_000094.4(COL7A1):c.6188G>A (p.Arg2063Gln)
|
rs2229825
|
0.00003
|
NM_000094.4(COL7A1):c.6538-5A>G
|
rs182043849
|
0.00003
|
NM_000103.4(CYP19A1):c.976C>T (p.Pro326Ser)
|
rs368902124
|
0.00003
|
NM_000117.3(EMD):c.234G>A (p.Lys78=)
|
rs781889152
|
0.00003
|
NM_000117.3(EMD):c.714C>T (p.Val238=)
|
rs782290874
|
0.00003
|
NM_000128.4(F11):c.537G>A (p.Thr179=)
|
rs752308147
|
0.00003
|
NM_000133.4(F9):c.333C>T (p.Asp111=)
|
rs139289585
|
0.00003
|
NM_000133.4(F9):c.391+4A>G
|
rs749754992
|
0.00003
|
NM_000133.4(F9):c.966C>T (p.Asp322=)
|
rs373107855
|
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_000152.5(GAA):c.2739C>G (p.Pro913=)
|
rs370765733
|
0.00003
|
NM_000156.6(GAMT):c.298C>T (p.Arg100Trp)
|
rs552210450
|
0.00003
|
NM_000166.6(GJB1):c.830G>A (p.Ser277Asn)
|
rs748095080
|
0.00003
|
NM_000169.3(GLA):c.416A>G (p.Asn139Ser)
|
rs138886989
|
0.00003
|
NM_000170.3(GLDC):c.1446C>T (p.Asp482=)
|
rs201147701
|
0.00003
|
NM_000170.3(GLDC):c.84G>T (p.Pro28=)
|
rs1259938806
|
0.00003
|
NM_000182.5(HADHA):c.777G>A (p.Lys259=)
|
rs142071869
|
0.00003
|
NM_000191.3(HMGCL):c.453C>T (p.Asp151=)
|
rs148943423
|
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_000206.3(IL2RG):c.281C>T (p.Ser94Leu)
|
rs775704953
|
0.00003
|
NM_000206.3(IL2RG):c.396C>T (p.Leu132=)
|
rs201840981
|
0.00003
|
NM_000206.3(IL2RG):c.708T>C (p.His236=)
|
rs750844357
|
0.00003
|
NM_000235.4(LIPA):c.846A>G (p.Thr282=)
|
rs534838107
|
0.00003
|
NM_000237.3(LPL):c.112G>A (p.Glu38Lys)
|
rs557015233
|
0.00003
|
NM_000243.3(MEFV):c.1179C>T (p.Pro393=)
|
rs104895082
|
0.00003
|
NM_000243.3(MEFV):c.1803T>A (p.Ile601=)
|
rs779572391
|
0.00003
|
NM_000243.3(MEFV):c.1938G>A (p.Pro646=)
|
rs104895160
|
0.00003
|
NM_000243.3(MEFV):c.195C>T (p.Tyr65=)
|
rs104895077
|
0.00003
|
NM_000243.3(MEFV):c.456G>A (p.Gly152=)
|
rs368333568
|
0.00003
|
NM_000246.4(CIITA):c.1437G>A (p.Ala479=)
|
rs779022639
|
0.00003
|
NM_000252.3(MTM1):c.508G>C (p.Val170Leu)
|
rs782274835
|
0.00003
|
NM_000255.4(MMUT):c.1737T>C (p.Asn579=)
|
rs770895512
|
0.00003
|
NM_000260.4(MYO7A):c.1053G>A (p.Ser351=)
|
rs187679481
|
0.00003
|
NM_000263.4(NAGLU):c.1479G>A (p.Ala493=)
|
rs113379621
|
0.00003
|
NM_000271.5(NPC1):c.1869C>T (p.Thr623=)
|
rs1359876392
|
0.00003
|
NM_000274.4(OAT):c.303G>A (p.Leu101=)
|
rs569605240
|
0.00003
|
NM_000282.4(PCCA):c.1576T>C (p.Leu526=)
|
rs564315582
|
0.00003
|
NM_000282.4(PCCA):c.33G>T (p.Leu11=)
|
rs922002208
|
0.00003
|
NM_000289.6(PFKM):c.1127+10T>C
|
rs759084382
|
0.00003
|
NM_000289.6(PFKM):c.2265C>T (p.Tyr755=)
|
rs374418157
|
0.00003
|
NM_000303.3(PMM2):c.699G>A (p.Ala233=)
|
rs375881270
|
0.00003
|
NM_000330.4(RS1):c.234G>A (p.Pro78=)
|
rs183092299
|
0.00003
|
NM_000352.6(ABCC8):c.2235C>T (p.Ser745=)
|
rs200708414
|
0.00003
|
NM_000359.3(TGM1):c.2337C>T (p.His779=)
|
rs755635993
|
0.00003
|
NM_000360.4(TH):c.*8G>C
|
rs761910662
|
0.00003
|
NM_000390.4(CHM):c.619A>G (p.Thr207Ala)
|
rs374880482
|
0.00003
|
NM_000397.4(CYBB):c.1581C>T (p.His527=)
|
rs781915934
|
0.00003
|
NM_000414.4(HSD17B4):c.1155T>C (p.Ser385=)
|
rs370055428
|
0.00003
|
NM_000441.2(SLC26A4):c.1740G>A (p.Lys580=)
|
rs573894071
|
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_000486.6(AQP2):c.162C>G (p.Thr54=)
|
rs143497314
|
0.00003
|
NM_000487.6(ARSA):c.1332G>T (p.Leu444=)
|
rs540031338
|
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_000492.4(CFTR):c.1500C>A (p.Gly500=)
|
rs762619288
|
0.00003
|
NM_000492.4(CFTR):c.1734A>G (p.Leu578=)
|
rs201025424
|
0.00003
|
NM_000492.4(CFTR):c.1932C>G (p.Leu644=)
|
rs779674687
|
0.00003
|
NM_000492.4(CFTR):c.2703C>T (p.Asn901=)
|
rs764201518
|
0.00003
|
NM_000492.4(CFTR):c.3177A>G (p.Leu1059=)
|
rs1800113
|
0.00003
|
NM_000492.4(CFTR):c.489+8T>G
|
rs727504712
|
0.00003
|
NM_000498.3(CYP11B2):c.78T>G (p.Thr26=)
|
rs201423805
|
0.00003
|
NM_000498.3(CYP11B2):c.800-7T>C
|
rs544965885
|
0.00003
|
NM_000525.4(KCNJ11):c.579C>T (p.His193=)
|
rs762089425
|
0.00003
|
NM_000527.5(LDLR):c.1060+9C>T
|
rs540073140
|
0.00003
|
NM_000527.5(LDLR):c.2241C>T (p.Pro747=)
|
rs554523758
|
0.00003
|
NM_000527.5(LDLR):c.2388C>T (p.Ile796=)
|
rs543852919
|
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_000543.5(SMPD1):c.1431G>A (p.Pro477=)
|
rs138588535
|
0.00003
|
NM_000543.5(SMPD1):c.558G>A (p.Pro186=)
|
rs1464825418
|
0.00003
|
NM_000642.3(AGL):c.3345A>T (p.Gly1115=)
|
rs758265909
|
0.00003
|
NM_000784.4(CYP27A1):c.624C>T (p.Leu208=)
|
rs200060245
|
0.00003
|
NM_001017420.3(ESCO2):c.1674-9_1674-7del
|
rs778526413
|
0.00003
|
NM_001017420.3(ESCO2):c.684G>A (p.Pro228=)
|
rs146523589
|
0.00003
|
NM_001039958.2(MESP2):c.207G>T (p.Thr69=)
|
rs571669966
|
0.00003
|
NM_001122769.3(LCA5):c.1099-9G>A
|
rs546754454
|
0.00003
|
NM_001122769.3(LCA5):c.1668C>T (p.Tyr556=)
|
rs376479835
|
0.00003
|
NM_001122769.3(LCA5):c.897T>C (p.Ser299=)
|
rs767145624
|
0.00003
|
NM_001126108.2(SLC12A3):c.348G>A (p.Gly116=)
|
rs149890322
|
0.00003
|
NM_001127671.2(LIFR):c.1221T>C (p.Asn407=)
|
rs372077841
|
0.00003
|
NM_001127671.2(LIFR):c.15C>T (p.Tyr5=)
|
rs778287994
|
0.00003
|
NM_001130987.2(DYSF):c.126C>T (p.Ser42=)
|
rs369755508
|
0.00003
|
NM_001130987.2(DYSF):c.4425C>T (p.Leu1475=)
|
rs371231895
|
0.00003
|
NM_001142800.2(EYS):c.3039T>C (p.Cys1013=)
|
rs751096016
|
0.00003
|
NM_001142800.2(EYS):c.3186A>G (p.Glu1062=)
|
rs769541648
|
0.00003
|
NM_001142800.2(EYS):c.6726-6G>A
|
rs575406480
|
0.00003
|
NM_001142800.2(EYS):c.8917A>C (p.Arg2973=)
|
rs1022087052
|
0.00003
|
NM_001142800.2(EYS):c.91G>A (p.Glu31Lys)
|
rs572189652
|
0.00003
|
NM_001164508.2(NEB):c.12288C>T (p.Asn4096=)
|
rs755521679
|
0.00003
|
NM_001164508.2(NEB):c.1230T>C (p.Asp410=)
|
rs78892743
|
0.00003
|
NM_001164508.2(NEB):c.12666C>T (p.Asp4222=)
|
rs1310326732
|
0.00003
|
NM_001164508.2(NEB):c.339C>T (p.Tyr113=)
|
rs546510007
|
0.00003
|
NM_001164508.2(NEB):c.4341C>T (p.Ile1447=)
|
rs576286059
|
0.00003
|
NM_001164508.2(NEB):c.7623C>T (p.Ala2541=)
|
rs371570995
|
0.00003
|
NM_001173990.3(TMEM216):c.405G>A (p.Glu135=)
|
rs748486939
|
0.00003
|
NM_001174089.2(SLC4A11):c.1503C>T (p.Tyr501=)
|
rs762726449
|
0.00003
|
NM_001174089.2(SLC4A11):c.1707C>G (p.Leu569=)
|
rs754759954
|
0.00003
|
NM_001243279.3(ACSF3):c.1074C>G (p.Thr358=)
|
rs374451559
|
0.00003
|
NM_001243279.3(ACSF3):c.66G>A (p.Ala22=)
|
rs751461445
|
0.00003
|
NM_001283009.2(RTEL1):c.396-27T>C
|
rs774523585
|
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_001365088.1(SLC12A6):c.1659T>C (p.Asp553=)
|
rs750940125
|
0.00003
|
NM_001369.3(DNAH5):c.11586G>A (p.Pro3862=)
|
rs755874851
|
0.00003
|
NM_001369.3(DNAH5):c.13065G>C (p.Val4355=)
|
rs372488592
|
0.00003
|
NM_001369.3(DNAH5):c.4331A>G (p.Asn1444Ser)
|
rs567013299
|
0.00003
|
NM_001369.3(DNAH5):c.8925C>T (p.Tyr2975=)
|
rs755490391
|
0.00003
|
NM_001378454.1(ALMS1):c.12198G>A (p.Arg4066=)
|
rs199603690
|
0.00003
|
NM_001378454.1(ALMS1):c.12354G>A (p.Arg4118=)
|
rs546745992
|
0.00003
|
NM_001378454.1(ALMS1):c.1773C>T (p.Asp591=)
|
rs369744185
|
0.00003
|
NM_001378454.1(ALMS1):c.2103A>C (p.Pro701=)
|
rs750362630
|
0.00003
|
NM_001378454.1(ALMS1):c.2122A>G (p.Thr708Ala)
|
rs571389435
|
0.00003
|
NM_001378454.1(ALMS1):c.2285G>C (p.Ser762Thr)
|
rs768930001
|
0.00003
|
NM_001384140.1(PCDH15):c.969C>A (p.Leu323=)
|
rs994026891
|
0.00003
|
NM_001384474.1(LOXHD1):c.5628C>T (p.Ile1876=)
|
rs149705118
|
0.00003
|
NM_001386140.1(MTTP):c.1668C>T (p.Asp556=)
|
rs751421159
|
0.00003
|
NM_001399.5(EDA):c.1014G>A (p.Thr338=)
|
rs750674219
|
0.00003
|
NM_001399.5(EDA):c.371A>G (p.His124Arg)
|
rs751470511
|
0.00003
|
NM_002435.3(MPI):c.69C>T (p.Ser23=)
|
rs140124850
|
0.00003
|
NM_002454.3(MTRR):c.1080A>C (p.Ile360=)
|
rs969738618
|
0.00003
|
NM_002529.4(NTRK1):c.1029C>T (p.His343=)
|
rs772855825
|
0.00003
|
NM_002529.4(NTRK1):c.1083G>T (p.Leu361=)
|
rs750656916
|
0.00003
|
NM_002617.4(PEX10):c.280G>A (p.Val94Met)
|
rs142626035
|
0.00003
|
NM_002778.4(PSAP):c.1341C>T (p.Tyr447=)
|
rs572916661
|
0.00003
|
NM_002778.4(PSAP):c.798G>A (p.Ala266=)
|
rs199672678
|
0.00003
|
NM_003060.4(SLC22A5):c.1539C>T (p.Phe513=)
|
rs370593952
|
0.00003
|
NM_003227.4(TFR2):c.2091G>A (p.Glu697=)
|
rs748623879
|
0.00003
|
NM_003227.4(TFR2):c.2268C>T (p.Ser756=)
|
rs760061994
|
0.00003
|
NM_003640.5(ELP1):c.1017C>A (p.Ser339Arg)
|
rs56053149
|
0.00003
|
NM_003640.5(ELP1):c.1834T>C (p.Leu612=)
|
rs768084021
|
0.00003
|
NM_003640.5(ELP1):c.2097T>C (p.Thr699=)
|
rs144352068
|
0.00003
|
NM_003640.5(ELP1):c.423G>A (p.Glu141=)
|
rs567960748
|
0.00003
|
NM_003640.5(ELP1):c.579C>T (p.Asp193=)
|
rs766231058
|
0.00003
|
NM_003659.4(AGPS):c.1209C>T (p.Ala403=)
|
rs761638262
|
0.00003
|
NM_003742.4(ABCB11):c.2037G>A (p.Ala679=)
|
rs776223452
|
0.00003
|
NM_003907.3(EIF2B5):c.1914C>T (p.Arg638=)
|
rs751446315
|
0.00003
|
NM_003982.4(SLC7A7):c.1494T>C (p.Asp498=)
|
rs765682604
|
0.00003
|
NM_004006.3(DMD):c.1014A>G (p.Glu338=)
|
rs758035070
|
0.00003
|
NM_004006.3(DMD):c.1059G>A (p.Ser353=)
|
rs760621626
|
0.00003
|
NM_004006.3(DMD):c.11046+11T>C
|
rs754992621
|
0.00003
|
NM_004006.3(DMD):c.1332-11C>T
|
rs370927319
|
0.00003
|
NM_004006.3(DMD):c.1462C>T (p.Arg488Cys)
|
rs758932385
|
0.00003
|
NM_004006.3(DMD):c.1482+7G>T
|
rs766338928
|
0.00003
|
NM_004006.3(DMD):c.1813-3C>A
|
rs181399181
|
0.00003
|
NM_004006.3(DMD):c.2292+9T>C
|
rs766804291
|
0.00003
|
NM_004006.3(DMD):c.2293-8T>C
|
rs377050013
|
0.00003
|
NM_004006.3(DMD):c.3051A>G (p.Lys1017=)
|
rs747263406
|
0.00003
|
NM_004006.3(DMD):c.3096C>G (p.Leu1032=)
|
rs770148717
|
0.00003
|
NM_004006.3(DMD):c.3114G>A (p.Glu1038=)
|
rs143810752
|
0.00003
|
NM_004006.3(DMD):c.3132G>A (p.Glu1044=)
|
rs758283681
|
0.00003
|
NM_004006.3(DMD):c.3177C>T (p.Thr1059=)
|
rs755632126
|
0.00003
|
NM_004006.3(DMD):c.3182A>G (p.Lys1061Arg)
|
rs190014284
|
0.00003
|
NM_004006.3(DMD):c.3419A>G (p.His1140Arg)
|
rs201297190
|
0.00003
|
NM_004006.3(DMD):c.358-7C>T
|
rs192050146
|
0.00003
|
NM_004006.3(DMD):c.3636G>A (p.Ala1212=)
|
rs769510089
|
0.00003
|
NM_004006.3(DMD):c.3814T>C (p.Leu1272=)
|
rs746405191
|
0.00003
|
NM_004006.3(DMD):c.4030C>T (p.Leu1344Phe)
|
rs187617705
|
0.00003
|
NM_004006.3(DMD):c.4373T>A (p.Phe1458Tyr)
|
rs777274879
|
0.00003
|
NM_004006.3(DMD):c.4908G>A (p.Glu1636=)
|
rs143538389
|
0.00003
|
NM_004006.3(DMD):c.5529G>A (p.Lys1843=)
|
rs780778975
|
0.00003
|
NM_004006.3(DMD):c.5677T>C (p.Leu1893=)
|
rs186237022
|
0.00003
|
NM_004006.3(DMD):c.6212G>A (p.Arg2071Lys)
|
rs774825173
|
0.00003
|
NM_004006.3(DMD):c.6614+7C>T
|
rs180719577
|
0.00003
|
NM_004006.3(DMD):c.6837A>C (p.Val2279=)
|
rs1227539937
|
0.00003
|
NM_004006.3(DMD):c.7092C>T (p.Asp2364=)
|
rs768559703
|
0.00003
|
NM_004006.3(DMD):c.7449C>T (p.Thr2483=)
|
rs766075840
|
0.00003
|
NM_004006.3(DMD):c.8218-5T>C
|
rs183643245
|
0.00003
|
NM_004006.3(DMD):c.8220C>T (p.Asp2740=)
|
rs768871885
|
0.00003
|
NM_004006.3(DMD):c.8520A>G (p.Ala2840=)
|
rs767304792
|
0.00003
|
NM_004006.3(DMD):c.8563T>C (p.Leu2855=)
|
rs750917672
|
0.00003
|
NM_004006.3(DMD):c.8643A>G (p.Leu2881=)
|
rs747605156
|
0.00003
|
NM_004006.3(DMD):c.8763C>T (p.His2921=)
|
rs755037672
|
0.00003
|
NM_004006.3(DMD):c.8958G>A (p.Ala2986=)
|
rs755815057
|
0.00003
|
NM_004006.3(DMD):c.8976G>A (p.Val2992=)
|
rs916865376
|
0.00003
|
NM_004006.3(DMD):c.8982C>T (p.His2994=)
|
rs1373425277
|
0.00003
|
NM_004006.3(DMD):c.9303C>T (p.Val3101=)
|
rs368744016
|
0.00003
|
NM_004006.3(DMD):c.960+9A>G
|
rs886038537
|
0.00003
|
NM_004035.7(ACOX1):c.825C>T (p.Tyr275=)
|
rs542159010
|
0.00003
|
NM_004553.6(NDUFS6):c.102G>A (p.Pro34=)
|
rs763463147
|
0.00003
|
NM_004646.4(NPHS1):c.1482G>A (p.Ser494=)
|
rs549535993
|
0.00003
|
NM_004937.3(CTNS):c.117G>A (p.Ser39=)
|
rs765428193
|
0.00003
|
NM_005609.4(PYGM):c.2412G>A (p.Arg804=)
|
rs199927544
|
0.00003
|
NM_005609.4(PYGM):c.681C>T (p.Tyr227=)
|
rs377503100
|
0.00003
|
NM_005629.4(SLC6A8):c.1285C>G (p.Leu429Val)
|
rs782551106
|
0.00003
|
NM_005629.4(SLC6A8):c.1869C>T (p.Ser623=)
|
rs782748657
|
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_005957.5(MTHFR):c.18A>G (p.Arg6=)
|
rs748686763
|
0.00003
|
NM_006019.4(TCIRG1):c.2118+10G>A
|
rs775491643
|
0.00003
|
NM_006261.5(PROP1):c.153G>C (p.Gly51=)
|
rs555891165
|
0.00003
|
NM_012203.2(GRHPR):c.252C>A (p.Gly84=)
|
rs139595138
|
0.00003
|
NM_013339.4(ALG6):c.1308C>T (p.Ser436=)
|
rs1271255207
|
0.00003
|
NM_014049.5(ACAD9):c.1533C>T (p.Thr511=)
|
rs376637096
|
0.00003
|
NM_014049.5(ACAD9):c.1551C>T (p.Leu517=)
|
rs751618594
|
0.00003
|
NM_014049.5(ACAD9):c.75G>T (p.Ala25=)
|
rs564435799
|
0.00003
|
NM_014140.4(SMARCAL1):c.426G>A (p.Glu142=)
|
rs767158204
|
0.00003
|
NM_014244.5(ADAMTS2):c.600G>A (p.Ala200=)
|
rs761444202
|
0.00003
|
NM_014249.4(NR2E3):c.245+9G>A
|
rs538864090
|
0.00003
|
NM_014249.4(NR2E3):c.768G>A (p.Ala256=)
|
rs1448837236
|
0.00003
|
NM_014363.6(SACS):c.159C>G (p.Arg53=)
|
rs968138431
|
0.00003
|
NM_014363.6(SACS):c.4098G>C (p.Leu1366=)
|
rs200381539
|
0.00003
|
NM_014363.6(SACS):c.5458C>T (p.Leu1820=)
|
rs754748296
|
0.00003
|
NM_014844.5(TECPR2):c.1803G>A (p.Pro601=)
|
rs779281934
|
0.00003
|
NM_015166.4(MLC1):c.1026C>G (p.Thr342=)
|
rs201417187
|
0.00003
|
NM_015166.4(MLC1):c.1033G>A (p.Gly345Ser)
|
rs746212879
|
0.00003
|
NM_015272.5(RPGRIP1L):c.1103+7C>T
|
rs761579460
|
0.00003
|
NM_015506.3(MMACHC):c.326C>T (p.Pro109Leu)
|
rs747214324
|
0.00003
|
NM_015506.3(MMACHC):c.495G>A (p.Leu165=)
|
rs761111018
|
0.00003
|
NM_015627.3(LDLRAP1):c.621C>T (p.Val207=)
|
rs554028072
|
0.00003
|
NM_017739.4(POMGNT1):c.421-9C>T
|
rs748122023
|
0.00003
|
NM_017777.4(MKS1):c.1024+10A>G
|
rs749001732
|
0.00003
|
NM_017777.4(MKS1):c.1260G>A (p.Leu420=)
|
rs749099410
|
0.00003
|
NM_019098.5(CNGB3):c.1566C>T (p.Val522=)
|
rs201787120
|
0.00003
|
NM_019098.5(CNGB3):c.183G>A (p.Thr61=)
|
rs767130603
|
0.00003
|
NM_022124.6(CDH23):c.2994C>T (p.Ala998=)
|
rs767831814
|
0.00003
|
NM_022124.6(CDH23):c.3924C>T (p.Asp1308=)
|
rs776501112
|
0.00003
|
NM_022124.6(CDH23):c.4620C>T (p.Asn1540=)
|
rs111033490
|
0.00003
|
NM_022124.6(CDH23):c.5610C>T (p.Val1870=)
|
rs568993739
|
0.00003
|
NM_022124.6(CDH23):c.6855C>T (p.Asp2285=)
|
rs750385396
|
0.00003
|
NM_022124.6(CDH23):c.6870G>A (p.Thr2290=)
|
rs778092747
|
0.00003
|
NM_023036.6(DNAI2):c.1401C>T (p.Ile467=)
|
rs371989598
|
0.00003
|
NM_023036.6(DNAI2):c.657C>T (p.Leu219=)
|
rs539461253
|
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_024649.5(BBS1):c.1338C>T (p.Thr446=)
|
rs368302072
|
0.00003
|
NM_024685.4(BBS10):c.1287T>C (p.Asp429=)
|
rs771468663
|
0.00003
|
NM_024685.4(BBS10):c.1743G>A (p.Pro581=)
|
rs150530553
|
0.00003
|
NM_024685.4(BBS10):c.462G>A (p.Leu154=)
|
rs764687344
|
0.00003
|
NM_025114.4(CEP290):c.3246C>T (p.His1082=)
|
rs539042966
|
0.00003
|
NM_025215.6(PUS1):c.75-5C>T
|
rs1363622622
|
0.00003
|
NM_032383.5(HPS3):c.2634G>A (p.Pro878=)
|
rs147593958
|
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_033056.4(PCDH15):c.5283T>A (p.Ala1761=)
|
rs375134176
|
0.00003
|
NM_033159.4(HYAL1):c.588C>T (p.Arg196=)
|
rs782601965
|
0.00003
|
NM_033305.3(VPS13A):c.5725T>C (p.Leu1909=)
|
rs139817600
|
0.00003
|
NM_033380.3(COL4A5):c.1827T>A (p.Gly609=)
|
rs756142410
|
0.00003
|
NM_033380.3(COL4A5):c.1909C>A (p.Gln637Lys)
|
rs368347660
|
0.00003
|
NM_033380.3(COL4A5):c.2604C>T (p.Pro868=)
|
rs781337825
|
0.00003
|
NM_033380.3(COL4A5):c.3684C>T (p.His1228=)
|
rs369744863
|
0.00003
|
NM_033380.3(COL4A5):c.4175T>C (p.Leu1392Pro)
|
rs754420396
|
0.00003
|
NM_052845.4(MMAB):c.732G>A (p.Ser244=)
|
rs186864802
|
0.00003
|
NM_057176.3(BSND):c.126C>T (p.Ser42=)
|
rs138152773
|
0.00003
|
NM_057176.3(BSND):c.216C>A (p.Ile72=)
|
rs755897497
|
0.00003
|
NM_057176.3(BSND):c.547G>A (p.Gly183Ser)
|
rs750027126
|
0.00003
|
NM_057176.3(BSND):c.696G>A (p.Arg232=)
|
rs886046424
|
0.00003
|
NM_133259.4(LRPPRC):c.276T>C (p.Leu92=)
|
rs187590711
|
0.00003
|
NM_138694.4(PKHD1):c.11883A>G (p.Arg3961=)
|
rs1165946143
|
0.00003
|
NM_138694.4(PKHD1):c.11931C>T (p.Ser3977=)
|
rs368081890
|
0.00003
|
NM_138694.4(PKHD1):c.12021C>G (p.Leu4007=)
|
rs761543328
|
0.00003
|
NM_138694.4(PKHD1):c.1254C>T (p.Ser418=)
|
rs1252381398
|
0.00003
|
NM_138694.4(PKHD1):c.3835G>A (p.Ala1279Thr)
|
rs201611688
|
0.00003
|
NM_138694.4(PKHD1):c.4011T>G (p.Asp1337Glu)
|
rs760893545
|
0.00003
|
NM_138694.4(PKHD1):c.8325A>C (p.Thr2775=)
|
rs753727582
|
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_153006.3(NAGS):c.1038C>T (p.His346=)
|
rs754276418
|
0.00003
|
NM_153717.3(EVC):c.1059C>T (p.Ala353=)
|
rs756025432
|
0.00003
|
NM_153717.3(EVC):c.2649C>T (p.Val883=)
|
rs1483799016
|
0.00003
|
NM_178138.6(LHX3):c.555C>A (p.His185Gln)
|
rs760626241
|
0.00003
|
NM_182894.3(VSX2):c.1002C>T (p.Thr334=)
|
rs778183266
|
0.00003
|
NM_201525.4(ADGRG1):c.1146G>A (p.Leu382=)
|
rs770806177
|
0.00003
|
NM_201525.4(ADGRG1):c.246T>C (p.Pro82=)
|
rs768452683
|
0.00003
|
NM_201548.5(CERKL):c.1596G>A (p.Lys532=)
|
rs752334385
|
0.00003
|
NM_206933.4(USH2A):c.11580C>T (p.Val3860=)
|
rs762253687
|
0.00003
|
NM_206933.4(USH2A):c.12429G>A (p.Ser4143=)
|
rs766310214
|
0.00003
|
NM_206933.4(USH2A):c.12918C>T (p.Leu4306=)
|
rs192709780
|
0.00003
|
NM_206933.4(USH2A):c.7698T>C (p.Tyr2566=)
|
rs533751971
|
0.00003
|
NM_206933.4(USH2A):c.7965G>A (p.Glu2655=)
|
rs571110005
|
0.00003
|
NM_206933.4(USH2A):c.9220C>T (p.Leu3074=)
|
rs1460250943
|
0.00003
|
NM_000016.6(ACADM):c.276A>G (p.Pro92=)
|
rs1212443202
|
0.00002
|
NM_000016.6(ACADM):c.6A>C (p.Ala2=)
|
rs752190688
|
0.00002
|
NM_000018.4(ACADVL):c.963C>T (p.Asn321=)
|
rs568118142
|
0.00002
|
NM_000022.4(ADA):c.144C>T (p.Asn48=)
|
rs189751145
|
0.00002
|
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_000033.4(ABCD1):c.1152C>T (p.Ala384=)
|
rs782095899
|
0.00002
|
NM_000033.4(ABCD1):c.1212G>A (p.Ser404=)
|
rs375656638
|
0.00002
|
NM_000033.4(ABCD1):c.1467G>A (p.Val489=)
|
rs782516659
|
0.00002
|
NM_000033.4(ABCD1):c.1839C>T (p.Ile613=)
|
rs782618093
|
0.00002
|
NM_000033.4(ABCD1):c.2031C>T (p.Gly677=)
|
rs782468372
|
0.00002
|
NM_000033.4(ABCD1):c.819G>A (p.Ala273=)
|
rs782165410
|
0.00002
|
NM_000048.4(ASL):c.243G>C (p.Leu81=)
|
rs774204716
|
0.00002
|
NM_000051.4(ATM):c.2085G>A (p.Leu695=)
|
rs786202229
|
0.00002
|
NM_000051.4(ATM):c.3963G>A (p.Met1321Ile)
|
rs35184530
|
0.00002
|
NM_000051.4(ATM):c.660G>A (p.Ala220=)
|
rs763669136
|
0.00002
|
NM_000052.7(ATP7A):c.1543+9C>G
|
rs367977602
|
0.00002
|
NM_000052.7(ATP7A):c.1974G>C (p.Leu658=)
|
rs781957241
|
0.00002
|
NM_000052.7(ATP7A):c.2225A>G (p.Lys742Arg)
|
rs782664014
|
0.00002
|
NM_000052.7(ATP7A):c.317C>T (p.Thr106Ile)
|
rs782647620
|
0.00002
|
NM_000052.7(ATP7A):c.3587A>G (p.Asn1196Ser)
|
rs782250966
|
0.00002
|
NM_000052.7(ATP7A):c.4245C>T (p.Tyr1415=)
|
rs782346811
|
0.00002
|
NM_000053.4(ATP7B):c.1122C>G (p.Val374=)
|
rs201254466
|
0.00002
|
NM_000057.4(BLM):c.1308T>C (p.Asp436=)
|
rs140178590
|
0.00002
|
NM_000057.4(BLM):c.2871C>T (p.Asp957=)
|
rs878853554
|
0.00002
|
NM_000057.4(BLM):c.3237C>T (p.Asp1079=)
|
rs148237075
|
0.00002
|
NM_000057.4(BLM):c.4128C>T (p.Ile1376=)
|
rs1314592673
|
0.00002
|
NM_000057.4(BLM):c.918A>G (p.Glu306=)
|
rs760806762
|
0.00002
|
NM_000070.3(CAPN3):c.2358C>T (p.Phe786=)
|
rs576710955
|
0.00002
|
NM_000092.5(COL4A4):c.1893A>G (p.Gly631=)
|
rs370886041
|
0.00002
|
NM_000092.5(COL4A4):c.861A>G (p.Pro287=)
|
rs747613100
|
0.00002
|
NM_000094.4(COL7A1):c.1494C>T (p.Thr498=)
|
rs776229982
|
0.00002
|
NM_000094.4(COL7A1):c.8205C>T (p.Pro2735=)
|
rs535006469
|
0.00002
|
NM_000101.4(CYBA):c.426G>A (p.Pro142=)
|
rs771202971
|
0.00002
|
NM_000101.4(CYBA):c.453G>A (p.Pro151=)
|
rs113033082
|
0.00002
|
NM_000108.5(DLD):c.36C>T (p.Ala12=)
|
rs780127925
|
0.00002
|
NM_000112.4(SLC26A2):c.2037C>T (p.Ile679=)
|
rs762132863
|
0.00002
|
NM_000117.3(EMD):c.662G>T (p.Arg221Leu)
|
rs782057378
|
0.00002
|
NM_000117.3(EMD):c.717C>T (p.Leu239=)
|
rs782369799
|
0.00002
|
NM_000133.4(F9):c.130C>T (p.Pro44Ser)
|
rs776894974
|
0.00002
|
NM_000133.4(F9):c.48C>A (p.Thr16=)
|
rs768833956
|
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_000137.4(FAH):c.411C>T (p.Val137=)
|
rs757871102
|
0.00002
|
NM_000137.4(FAH):c.666T>C (p.His222=)
|
rs768359308
|
0.00002
|
NM_000151.4(G6PC1):c.1068G>A (p.Ser356=)
|
rs776022311
|
0.00002
|
NM_000151.4(G6PC1):c.960G>T (p.Leu320=)
|
rs531727073
|
0.00002
|
NM_000152.5(GAA):c.1083G>A (p.Pro361=)
|
rs781379047
|
0.00002
|
NM_000152.5(GAA):c.2668G>C (p.Val890Leu)
|
rs377286472
|
0.00002
|
NM_000152.5(GAA):c.705G>A (p.Thr235=)
|
rs2304846
|
0.00002
|
NM_000154.2(GALK1):c.948C>T (p.Asp316=)
|
rs370706611
|
0.00002
|
NM_000156.6(GAMT):c.379G>A (p.Gly127Ser)
|
rs570476209
|
0.00002
|
NM_000156.6(GAMT):c.486G>A (p.Pro162=)
|
rs368650653
|
0.00002
|
NM_000159.4(GCDH):c.54C>T (p.His18=)
|
rs747459082
|
0.00002
|
NM_000182.5(HADHA):c.1794T>C (p.His598=)
|
rs149021400
|
0.00002
|
NM_000191.3(HMGCL):c.804C>T (p.Tyr268=)
|
rs765198174
|
0.00002
|
NM_000195.5(HPS1):c.1896C>T (p.Ser632=)
|
rs760508807
|
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_000206.3(IL2RG):c.201C>T (p.Val67=)
|
rs756100347
|
0.00002
|
NM_000206.3(IL2RG):c.455-8A>G
|
rs781649645
|
0.00002
|
NM_000206.3(IL2RG):c.494T>G (p.Leu165Arg)
|
rs758693125
|
0.00002
|
NM_000206.3(IL2RG):c.75G>A (p.Thr25=)
|
rs754951792
|
0.00002
|
NM_000206.3(IL2RG):c.953C>T (p.Ala318Val)
|
rs370007902
|
0.00002
|
NM_000232.5(SGCB):c.498C>T (p.Ile166=)
|
rs748602445
|
0.00002
|
NM_000235.4(LIPA):c.579G>A (p.Arg193=)
|
rs777978533
|
0.00002
|
NM_000243.3(MEFV):c.1911C>T (p.Asp637=)
|
rs746646325
|
0.00002
|
NM_000246.4(CIITA):c.1314T>C (p.Ala438=)
|
rs749994940
|
0.00002
|
NM_000246.4(CIITA):c.165C>T (p.Asp55=)
|
rs776624117
|
0.00002
|
NM_000246.4(CIITA):c.963C>T (p.Cys321=)
|
rs781290238
|
0.00002
|
NM_000252.3(MTM1):c.1692C>T (p.Arg564=)
|
rs1557415136
|
0.00002
|
NM_000252.3(MTM1):c.297G>A (p.Ala99=)
|
rs781784303
|
0.00002
|
NM_000252.3(MTM1):c.741C>T (p.Val247=)
|
rs374360983
|
0.00002
|
NM_000260.4(MYO7A):c.4308C>T (p.Ile1436=)
|
rs189972611
|
0.00002
|
NM_000263.4(NAGLU):c.1821C>T (p.Asp607=)
|
rs750401625
|
0.00002
|
NM_000274.4(OAT):c.816T>C (p.Thr272=)
|
rs778561122
|
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_000310.4(PPT1):c.369A>G (p.Ala123=)
|
rs138951598
|
0.00002
|
NM_000318.3(PEX2):c.795T>C (p.Tyr265=)
|
rs764785488
|
0.00002
|
NM_000330.4(RS1):c.471C>T (p.Thr157=)
|
rs754381417
|
0.00002
|
NM_000352.6(ABCC8):c.2178A>G (p.Ala726=)
|
rs747902103
|
0.00002
|
NM_000359.3(TGM1):c.21C>T (p.Ser7=)
|
rs150913268
|
0.00002
|
NM_000360.4(TH):c.1377C>T (p.Phe459=)
|
rs575305786
|
0.00002
|
NM_000360.4(TH):c.1422C>T (p.Ala474=)
|
rs375735482
|
0.00002
|
NM_000360.4(TH):c.288G>C (p.Leu96=)
|
rs151082354
|
0.00002
|
NM_000383.4(AIRE):c.423C>T (p.Ala141=)
|
rs572002344
|
0.00002
|
NM_000383.4(AIRE):c.453C>T (p.Thr151=)
|
rs554372593
|
0.00002
|
NM_000390.4(CHM):c.484G>A (p.Asp162Asn)
|
rs755873471
|
0.00002
|
NM_000391.4(TPP1):c.1281G>A (p.Thr427=)
|
rs577520250
|
0.00002
|
NM_000391.4(TPP1):c.1552-9C>T
|
rs369699167
|
0.00002
|
NM_000396.4(CTSK):c.30T>G (p.Pro10=)
|
rs139004720
|
0.00002
|
NM_000397.4(CYBB):c.1137G>A (p.Ala379=)
|
rs1435916818
|
0.00002
|
NM_000397.4(CYBB):c.1300C>T (p.Leu434=)
|
rs781891223
|
0.00002
|
NM_000397.4(CYBB):c.1641T>C (p.Ser547=)
|
rs771661205
|
0.00002
|
NM_000397.4(CYBB):c.452G>A (p.Ser151Asn)
|
rs782500733
|
0.00002
|
NM_000397.4(CYBB):c.562T>C (p.Leu188=)
|
rs782410841
|
0.00002
|
NM_000414.4(HSD17B4):c.648G>A (p.Glu216=)
|
rs762731834
|
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_000486.6(AQP2):c.447C>T (p.Thr149=)
|
rs369985708
|
0.00002
|
NM_000487.6(ARSA):c.828G>A (p.Thr276=)
|
rs370585019
|
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_000492.4(CFTR):c.2241G>A (p.Ala747=)
|
rs146645194
|
0.00002
|
NM_000492.4(CFTR):c.2262G>C (p.Val754=)
|
rs1201012182
|
0.00002
|
NM_000492.4(CFTR):c.2322A>T (p.Thr774=)
|
rs778581398
|
0.00002
|
NM_000492.4(CFTR):c.2373A>G (p.Thr791=)
|
rs202115503
|
0.00002
|
NM_000492.4(CFTR):c.3024C>T (p.Val1008=)
|
rs774643457
|
0.00002
|
NM_000492.4(CFTR):c.3789T>C (p.Thr1263=)
|
rs200921635
|
0.00002
|
NM_000492.4(CFTR):c.589T>C (p.Leu197=)
|
rs755619078
|
0.00002
|
NM_000520.6(HEXA):c.1230C>T (p.Ala410=)
|
rs751185874
|
0.00002
|
NM_000527.5(LDLR):c.651T>C (p.Asp217=)
|
rs201374693
|
0.00002
|
NM_000527.5(LDLR):c.72C>T (p.Gly24=)
|
rs774304077
|
0.00002
|
NM_000527.5(LDLR):c.993C>T (p.Asp331=)
|
rs147905921
|
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_000531.6(OTC):c.375G>A (p.Thr125=)
|
rs371075231
|
0.00002
|
NM_000532.5(PCCB):c.1317T>C (p.Tyr439=)
|
rs199541514
|
0.00002
|
NM_000532.5(PCCB):c.1338C>T (p.His446=)
|
rs958149789
|
0.00002
|
NM_000532.5(PCCB):c.889C>T (p.Arg297Cys)
|
rs549397464
|
0.00002
|
NM_000543.5(SMPD1):c.234C>T (p.Pro78=)
|
rs575601110
|
0.00002
|
NM_000784.4(CYP27A1):c.315C>T (p.His105=)
|
rs753981913
|
0.00002
|
NM_000784.4(CYP27A1):c.36G>T (p.Ala12=)
|
rs764764261
|
0.00002
|
NM_000784.4(CYP27A1):c.384C>T (p.Asn128=)
|
rs765555645
|
0.00002
|
NM_001127671.2(LIFR):c.552C>T (p.Leu184=)
|
rs370454146
|
0.00002
|
NM_001130987.2(DYSF):c.1917G>A (p.Gly639=)
|
rs769518034
|
0.00002
|
NM_001130987.2(DYSF):c.2433C>T (p.Ile811=)
|
rs773468156
|
0.00002
|
NM_001130987.2(DYSF):c.249G>C (p.Gly83=)
|
rs550993602
|
0.00002
|
NM_001130987.2(DYSF):c.4005C>T (p.Asn1335=)
|
rs201966225
|
0.00002
|
NM_001130987.2(DYSF):c.5238G>A (p.Gln1746=)
|
rs762447573
|
0.00002
|
NM_001130987.2(DYSF):c.6322-10C>G
|
rs755660226
|
0.00002
|
NM_001142800.2(EYS):c.5101C>T (p.Leu1701=)
|
rs776193099
|
0.00002
|
NM_001142800.2(EYS):c.5841C>T (p.His1947=)
|
rs772523953
|
0.00002
|
NM_001164508.2(NEB):c.11181T>A (p.Asp3727Glu)
|
rs551261559
|
0.00002
|
NM_001164508.2(NEB):c.11754C>T (p.Thr3918=)
|
rs368230090
|
0.00002
|
NM_001164508.2(NEB):c.12732A>G (p.Arg4244=)
|
rs1396568234
|
0.00002
|
NM_001164508.2(NEB):c.16995T>C (p.Asn5665=)
|
rs761988373
|
0.00002
|
NM_001164508.2(NEB):c.2382C>T (p.Ile794=)
|
rs532547534
|
0.00002
|
NM_001164508.2(NEB):c.4548T>C (p.Tyr1516=)
|
rs748479655
|
0.00002
|
NM_001164508.2(NEB):c.5697C>T (p.Thr1899=)
|
rs761341951
|
0.00002
|
NM_001164508.2(NEB):c.5868T>C (p.Ser1956=)
|
rs374717947
|
0.00002
|
NM_001164508.2(NEB):c.6390C>T (p.Ala2130=)
|
rs974601635
|
0.00002
|
NM_001164508.2(NEB):c.8556G>A (p.Val2852=)
|
rs368155040
|
0.00002
|
NM_001164508.2(NEB):c.9133C>T (p.Leu3045Phe)
|
rs533898172
|
0.00002
|
NM_001174089.2(SLC4A11):c.1524C>T (p.Asp508=)
|
rs747443468
|
0.00002
|
NM_001174089.2(SLC4A11):c.2175C>T (p.Asn725=)
|
rs372681319
|
0.00002
|
NM_001174089.2(SLC4A11):c.2253G>C (p.Leu751=)
|
rs766549806
|
0.00002
|
NM_001174089.2(SLC4A11):c.2389-8G>A
|
rs762782747
|
0.00002
|
NM_001174089.2(SLC4A11):c.330G>A (p.Ala110=)
|
rs200345104
|
0.00002
|
NM_001283009.2(RTEL1):c.1659C>A (p.Pro553=)
|
rs758544821
|
0.00002
|
NM_001283009.2(RTEL1):c.3300C>T (p.Ala1100=)
|
rs530713870
|
0.00002
|
NM_001352514.2(HLCS):c.1875G>A (p.Thr625=)
|
rs776800808
|
0.00002
|
NM_001360.3(DHCR7):c.1134C>T (p.Ile378=)
|
rs773505265
|
0.00002
|
NM_001365088.1(SLC12A6):c.2385C>T (p.Val795=)
|
rs562984167
|
0.00002
|
NM_001365088.1(SLC12A6):c.2859T>C (p.Ser953=)
|
rs776132941
|
0.00002
|
NM_001369.3(DNAH5):c.12129G>A (p.Thr4043=)
|
rs779527506
|
0.00002
|
NM_001369.3(DNAH5):c.13005C>T (p.Thr4335=)
|
rs755271975
|
0.00002
|
NM_001369.3(DNAH5):c.1836C>T (p.Tyr612=)
|
rs1035218078
|
0.00002
|
NM_001369.3(DNAH5):c.3897T>C (p.Val1299=)
|
rs749416187
|
0.00002
|
NM_001369.3(DNAH5):c.5817G>A (p.Ala1939=)
|
rs556936569
|
0.00002
|
NM_001369.3(DNAH5):c.6167A>T (p.Lys2056Ile)
|
rs578128759
|
0.00002
|
NM_001369.3(DNAH5):c.636T>G (p.Gly212=)
|
rs376360357
|
0.00002
|
NM_001369.3(DNAH5):c.8772C>T (p.Ala2924=)
|
rs552458966
|
0.00002
|
NM_001369.3(DNAH5):c.9918C>T (p.Ile3306=)
|
rs373676166
|
0.00002
|
NM_001369.3(DNAH5):c.9975C>T (p.Cys3325=)
|
rs771715883
|
0.00002
|
NM_001370658.1(BTD):c.183G>A (p.Glu61=)
|
rs753816877
|
0.00002
|
NM_001371596.2(MFSD8):c.1068T>C (p.Pro356=)
|
rs376258320
|
0.00002
|
NM_001378454.1(ALMS1):c.10020G>A (p.Arg3340=)
|
rs746166271
|
0.00002
|
NM_001378454.1(ALMS1):c.11499A>G (p.Thr3833=)
|
rs762899971
|
0.00002
|
NM_001378454.1(ALMS1):c.11550A>G (p.Val3850=)
|
rs45630561
|
0.00002
|
NM_001378454.1(ALMS1):c.1884T>C (p.Pro628=)
|
rs373831151
|
0.00002
|
NM_001378454.1(ALMS1):c.2502T>C (p.Ala834=)
|
rs761599987
|
0.00002
|
NM_001378454.1(ALMS1):c.315C>T (p.Ser105=)
|
rs754611450
|
0.00002
|
NM_001378454.1(ALMS1):c.4131C>T (p.Thr1377=)
|
rs759705921
|
0.00002
|
NM_001378454.1(ALMS1):c.5765T>C (p.Val1922Ala)
|
rs761428155
|
0.00002
|
NM_001378454.1(ALMS1):c.717G>A (p.Ala239=)
|
rs373972884
|
0.00002
|
NM_001378454.1(ALMS1):c.9708G>A (p.Lys3236=)
|
rs574095166
|
0.00002
|
NM_001384140.1(PCDH15):c.1918-6C>T
|
rs776285978
|
0.00002
|
NM_001384140.1(PCDH15):c.3888T>C (p.Asp1296=)
|
rs765713345
|
0.00002
|
NM_001384474.1(LOXHD1):c.4635G>A (p.Val1545=)
|
rs531191015
|
0.00002
|
NM_001384474.1(LOXHD1):c.6333C>T (p.Tyr2111=)
|
rs374858340
|
0.00002
|
NM_001384474.1(LOXHD1):c.78C>T (p.Tyr26=)
|
rs1032456776
|
0.00002
|
NM_001399.5(EDA):c.135T>C (p.Gly45=)
|
rs766017052
|
0.00002
|
NM_001673.5(ASNS):c.513G>A (p.Ala171=)
|
rs755945639
|
0.00002
|
NM_001673.5(ASNS):c.594C>T (p.Ser198=)
|
rs527301530
|
0.00002
|
NM_001876.4(CPT1A):c.1257G>A (p.Thr419=)
|
rs764443409
|
0.00002
|
NM_001876.4(CPT1A):c.1317C>T (p.Tyr439=)
|
rs140332936
|
0.00002
|
NM_001876.4(CPT1A):c.303G>A (p.Thr101=)
|
rs553777167
|
0.00002
|
NM_002225.5(IVD):c.1215G>A (p.Gly405=)
|
rs752374036
|
0.00002
|
NM_002225.5(IVD):c.22C>T (p.Leu8=)
|
rs773816252
|
0.00002
|
NM_002435.3(MPI):c.1233G>A (p.Pro411=)
|
rs746867428
|
0.00002
|
NM_002529.4(NTRK1):c.321G>A (p.Ala107=)
|
rs774351278
|
0.00002
|
NM_003640.5(ELP1):c.1491T>C (p.Asp497=)
|
rs775020540
|
0.00002
|
NM_003640.5(ELP1):c.3324C>T (p.Asn1108=)
|
rs372541751
|
0.00002
|
NM_004004.6(GJB2):c.510C>T (p.Asn170=)
|
rs763068053
|
0.00002
|
NM_004006.3(DMD):c.*59C>A
|
rs1057520501
|
0.00002
|
NM_004006.3(DMD):c.10014A>G (p.Gln3338=)
|
rs753610550
|
0.00002
|
NM_004006.3(DMD):c.10087-9C>G
|
rs777590351
|
0.00002
|
NM_004006.3(DMD):c.1008G>A (p.Glu336=)
|
rs1280118173
|
0.00002
|
NM_004006.3(DMD):c.10224-5T>C
|
rs768272792
|
0.00002
|
NM_004006.3(DMD):c.10677T>C (p.Ile3559=)
|
rs765950547
|
0.00002
|
NM_004006.3(DMD):c.10911G>A (p.Ser3637=)
|
rs747939733
|
0.00002
|
NM_004006.3(DMD):c.10921+5G>A
|
rs398123848
|
0.00002
|
NM_004006.3(DMD):c.1122G>C (p.Val374=)
|
rs769001938
|
0.00002
|
NM_004006.3(DMD):c.1333T>C (p.Leu445=)
|
rs781105610
|
0.00002
|
NM_004006.3(DMD):c.1410A>G (p.Arg470=)
|
rs770845328
|
0.00002
|
NM_004006.3(DMD):c.162C>T (p.Leu54=)
|
rs904011265
|
0.00002
|
NM_004006.3(DMD):c.1812+4T>C
|
rs777165271
|
0.00002
|
NM_004006.3(DMD):c.1920G>A (p.Thr640=)
|
rs766895256
|
0.00002
|
NM_004006.3(DMD):c.1945C>T (p.Arg649Trp)
|
rs770572107
|
0.00002
|
NM_004006.3(DMD):c.2432G>A (p.Arg811Gln)
|
rs868641814
|
0.00002
|
NM_004006.3(DMD):c.2523A>G (p.Gln841=)
|
rs748655300
|
0.00002
|
NM_004006.3(DMD):c.2804-9T>C
|
rs756053444
|
0.00002
|
NM_004006.3(DMD):c.2828G>A (p.Arg943His)
|
rs398123911
|
0.00002
|
NM_004006.3(DMD):c.2842A>G (p.Met948Val)
|
rs186628781
|
0.00002
|
NM_004006.3(DMD):c.2910C>T (p.Thr970=)
|
rs765442122
|
0.00002
|
NM_004006.3(DMD):c.2946G>A (p.Leu982=)
|
rs770506515
|
0.00002
|
NM_004006.3(DMD):c.297C>T (p.Ile99=)
|
rs1004456825
|
0.00002
|
NM_004006.3(DMD):c.3498A>G (p.Leu1166=)
|
rs767446687
|
0.00002
|
NM_004006.3(DMD):c.3510C>T (p.His1170=)
|
rs138945423
|
0.00002
|
NM_004006.3(DMD):c.3663A>G (p.Val1221=)
|
rs750549006
|
0.00002
|
NM_004006.3(DMD):c.3960A>G (p.Pro1320=)
|
rs765256995
|
0.00002
|
NM_004006.3(DMD):c.4176G>A (p.Gln1392=)
|
rs372863584
|
0.00002
|
NM_004006.3(DMD):c.4345-8C>T
|
rs886044675
|
0.00002
|
NM_004006.3(DMD):c.4427T>C (p.Met1476Thr)
|
rs371646182
|
0.00002
|
NM_004006.3(DMD):c.4762G>T (p.Ala1588Ser)
|
rs749732729
|
0.00002
|
NM_004006.3(DMD):c.4798G>C (p.Val1600Leu)
|
rs753565464
|
0.00002
|
NM_004006.3(DMD):c.4851T>G (p.Thr1617=)
|
rs143719666
|
0.00002
|
NM_004006.3(DMD):c.4924T>C (p.Leu1642=)
|
rs376720373
|
0.00002
|
NM_004006.3(DMD):c.5459A>G (p.Asn1820Ser)
|
rs1800271
|
0.00002
|
NM_004006.3(DMD):c.5493A>G (p.Gly1831=)
|
rs1322285225
|
0.00002
|
NM_004006.3(DMD):c.5827A>G (p.Met1943Val)
|
rs181849614
|
0.00002
|
NM_004006.3(DMD):c.6072T>C (p.Cys2024=)
|
rs373804251
|
0.00002
|
NM_004006.3(DMD):c.633A>G (p.Lys211=)
|
rs367557830
|
0.00002
|
NM_004006.3(DMD):c.6484T>C (p.Leu2162=)
|
rs768153284
|
0.00002
|
NM_004006.3(DMD):c.6788G>A (p.Arg2263His)
|
rs780221745
|
0.00002
|
NM_004006.3(DMD):c.7359A>G (p.Glu2453=)
|
rs780283825
|
0.00002
|
NM_004006.3(DMD):c.7602C>T (p.Ala2534=)
|
rs748309027
|
0.00002
|
NM_004006.3(DMD):c.8147A>G (p.Gln2716Arg)
|
rs750640802
|
0.00002
|
NM_004006.3(DMD):c.8226A>G (p.Gln2742=)
|
rs746514008
|
0.00002
|
NM_004006.3(DMD):c.831+10G>A
|
rs756370588
|
0.00002
|
NM_004006.3(DMD):c.8999G>A (p.Arg3000His)
|
rs772695216
|
0.00002
|
NM_004006.3(DMD):c.9228C>T (p.His3076=)
|
rs761925260
|
0.00002
|
NM_004006.3(DMD):c.9510C>T (p.Asn3170=)
|
rs751900100
|
0.00002
|
NM_004006.3(DMD):c.956C>T (p.Ser319Leu)
|
rs765986138
|
0.00002
|
NM_004006.3(DMD):c.9834G>A (p.Ala3278=)
|
rs749726519
|
0.00002
|
NM_004035.7(ACOX1):c.1683G>A (p.Leu561=)
|
rs568893695
|
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_004646.4(NPHS1):c.2148C>T (p.Leu716=)
|
rs760024099
|
0.00002
|
NM_005373.3(MPL):c.1134C>T (p.Tyr378=)
|
rs749571171
|
0.00002
|
NM_005629.4(SLC6A8):c.1293C>T (p.Asp431=)
|
rs371599516
|
0.00002
|
NM_005629.4(SLC6A8):c.537C>T (p.Pro179=)
|
rs202136567
|
0.00002
|
NM_005629.4(SLC6A8):c.76G>A (p.Gly26Arg)
|
rs1233444890
|
0.00002
|
NM_006118.4(HAX1):c.411G>A (p.Gln137=)
|
rs766622654
|
0.00002
|
NM_006261.5(PROP1):c.52G>A (p.Gly18Ser)
|
rs775353413
|
0.00002
|
NM_006623.4(PHGDH):c.1149C>T (p.Ser383=)
|
rs145449458
|
0.00002
|
NM_006623.4(PHGDH):c.909C>T (p.Phe303=)
|
rs762185673
|
0.00002
|
NM_007259.5(VPS45):c.711C>T (p.His237=)
|
rs782676481
|
0.00002
|
NM_012144.4(DNAI1):c.1167C>T (p.Leu389=)
|
rs756277063
|
0.00002
|
NM_012144.4(DNAI1):c.1503C>T (p.Ala501=)
|
rs377601344
|
0.00002
|
NM_012144.4(DNAI1):c.174C>T (p.Thr58=)
|
rs752803659
|
0.00002
|
NM_012144.4(DNAI1):c.1877C>T (p.Ala626Val)
|
rs565034311
|
0.00002
|
NM_013339.4(ALG6):c.54A>G (p.Arg18=)
|
rs373800951
|
0.00002
|
NM_014049.5(ACAD9):c.254G>A (p.Arg85Gln)
|
rs573257268
|
0.00002
|
NM_014049.5(ACAD9):c.694G>A (p.Val232Ile)
|
rs371417658
|
0.00002
|
NM_014140.4(SMARCAL1):c.2532C>T (p.Pro844=)
|
rs747379387
|
0.00002
|
NM_014249.4(NR2E3):c.672G>A (p.Ser224=)
|
rs530684859
|
0.00002
|
NM_014251.3(SLC25A13):c.1506G>A (p.Pro502=)
|
rs144494809
|
0.00002
|
NM_014297.5(ETHE1):c.426C>T (p.Phe142=)
|
rs566533497
|
0.00002
|
NM_014363.6(SACS):c.2472G>A (p.Ser824=)
|
rs554395185
|
0.00002
|
NM_014363.6(SACS):c.2733C>T (p.Thr911=)
|
rs199702597
|
0.00002
|
NM_014363.6(SACS):c.4878C>T (p.Gly1626=)
|
rs778664565
|
0.00002
|
NM_014363.6(SACS):c.5222C>T (p.Thr1741Ile)
|
rs201724656
|
0.00002
|
NM_014363.6(SACS):c.7354T>C (p.Leu2452=)
|
rs761258047
|
0.00002
|
NM_014625.4(NPHS2):c.390G>A (p.Glu130=)
|
rs142188956
|
0.00002
|
NM_014844.5(TECPR2):c.1791C>T (p.Leu597=)
|
rs757180768
|
0.00002
|
NM_014844.5(TECPR2):c.2697G>A (p.Leu899=)
|
rs755040646
|
0.00002
|
NM_014844.5(TECPR2):c.3000C>T (p.Asp1000=)
|
rs200626084
|
0.00002
|
NM_014844.5(TECPR2):c.3360T>A (p.Ala1120=)
|
rs774314281
|
0.00002
|
NM_014844.5(TECPR2):c.4188C>T (p.Ala1396=)
|
rs113941655
|
0.00002
|
NM_015166.4(MLC1):c.486C>T (p.Ile162=)
|
rs754667390
|
0.00002
|
NM_015272.5(RPGRIP1L):c.2058T>C (p.Tyr686=)
|
rs778885314
|
0.00002
|
NM_015474.4(SAMHD1):c.342A>G (p.Thr114=)
|
rs760417947
|
0.00002
|
NM_015506.3(MMACHC):c.765C>T (p.Pro255=)
|
rs772078967
|
0.00002
|
NM_015506.3(MMACHC):c.800G>A (p.Arg267Gln)
|
rs765822392
|
0.00002
|
NM_015627.3(LDLRAP1):c.645A>G (p.Leu215=)
|
rs776681796
|
0.00002
|
NM_017777.4(MKS1):c.1233T>C (p.Arg411=)
|
rs201128765
|
0.00002
|
NM_018006.5(TRMU):c.1242T>G (p.Gly414=)
|
rs780243289
|
0.00002
|
NM_018941.4(CLN8):c.111C>T (p.Gly37=)
|
rs753430388
|
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_022124.6(CDH23):c.1263C>T (p.Tyr421=)
|
rs528720730
|
0.00002
|
NM_022124.6(CDH23):c.1317C>T (p.Asp439=)
|
rs748828988
|
0.00002
|
NM_022124.6(CDH23):c.2112C>T (p.Tyr704=)
|
rs565266663
|
0.00002
|
NM_022124.6(CDH23):c.414C>T (p.Ser138=)
|
rs745908110
|
0.00002
|
NM_022124.6(CDH23):c.4589C>T (p.Pro1530Leu)
|
rs554938323
|
0.00002
|
NM_022124.6(CDH23):c.5066T>C (p.Met1689Thr)
|
rs397517334
|
0.00002
|
NM_022124.6(CDH23):c.9858C>T (p.His3286=)
|
rs761835004
|
0.00002
|
NM_023036.6(DNAI2):c.1614C>T (p.Ala538=)
|
rs376265471
|
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_024649.5(BBS1):c.1695+9C>T
|
rs756514477
|
0.00002
|
NM_025114.4(CEP290):c.5577T>C (p.Ser1859=)
|
rs1481341836
|
0.00002
|
NM_025215.6(PUS1):c.216T>C (p.Gly72=)
|
rs766451588
|
0.00002
|
NM_025216.3(WNT10A):c.966G>C (p.Pro322=)
|
rs767856988
|
0.00002
|
NM_031885.5(BBS2):c.2088T>C (p.Thr696=)
|
rs886052144
|
0.00002
|
NM_031885.5(BBS2):c.382T>C (p.Leu128=)
|
rs374060552
|
0.00002
|
NM_031885.5(BBS2):c.819T>C (p.Ser273=)
|
rs550992948
|
0.00002
|
NM_033056.4(PCDH15):c.4783A>C (p.Ile1595Leu)
|
rs397517461
|
0.00002
|
NM_033305.3(VPS13A):c.5721T>C (p.Tyr1907=)
|
rs773977853
|
0.00002
|
NM_033305.3(VPS13A):c.7078G>A (p.Glu2360Lys)
|
rs370401336
|
0.00002
|
NM_033305.3(VPS13A):c.8211+5G>A
|
rs183316143
|
0.00002
|
NM_033305.3(VPS13A):c.900G>A (p.Glu300=)
|
rs750958608
|
0.00002
|
NM_033305.3(VPS13A):c.9492A>G (p.Leu3164=)
|
rs538279569
|
0.00002
|
NM_033380.3(COL4A5):c.1296G>C (p.Gly432=)
|
rs755291471
|
0.00002
|
NM_033380.3(COL4A5):c.1810C>A (p.Pro604Thr)
|
rs183934559
|
0.00002
|
NM_033380.3(COL4A5):c.750A>G (p.Pro250=)
|
rs1163287222
|
0.00002
|
NM_054012.4(ASS1):c.294C>T (p.Ile98=)
|
rs183370361
|
0.00002
|
NM_057176.3(BSND):c.417G>A (p.Pro139=)
|
rs776717215
|
0.00002
|
NM_057176.3(BSND):c.546C>T (p.Pro182=)
|
rs375551000
|
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_138694.4(PKHD1):c.11916T>C (p.Thr3972=)
|
rs1473205243
|
0.00002
|
NM_138694.4(PKHD1):c.12117G>A (p.Lys4039=)
|
rs1268794606
|
0.00002
|
NM_138694.4(PKHD1):c.2133C>T (p.Asn711=)
|
rs766225439
|
0.00002
|
NM_138694.4(PKHD1):c.4200G>A (p.Ser1400=)
|
rs767936065
|
0.00002
|
NM_138694.4(PKHD1):c.624T>C (p.His208=)
|
rs767511678
|
0.00002
|
NM_138694.4(PKHD1):c.663C>T (p.Tyr221=)
|
rs746417768
|
0.00002
|
NM_138694.4(PKHD1):c.7737G>A (p.Ala2579=)
|
rs759139294
|
0.00002
|
NM_138694.4(PKHD1):c.873C>T (p.Thr291=)
|
rs769773725
|
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_152443.3(RDH12):c.621T>C (p.Asn207=)
|
rs747183193
|
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_183050.4(BCKDHB):c.36C>T (p.Leu12=)
|
rs1464497822
|
0.00002
|
NM_201253.3(CRB1):c.1452C>T (p.Thr484=)
|
rs372844443
|
0.00002
|
NM_206933.4(USH2A):c.1011T>C (p.Pro337=)
|
rs146950070
|
0.00002
|
NM_206933.4(USH2A):c.1215T>C (p.Asn405=)
|
rs745587883
|
0.00002
|
NM_206933.4(USH2A):c.13485T>A (p.Arg4495=)
|
rs533727047
|
0.00002
|
NM_206933.4(USH2A):c.14625C>T (p.Ala4875=)
|
rs773859845
|
0.00002
|
NM_206933.4(USH2A):c.3666G>A (p.Ala1222=)
|
rs764479854
|
0.00002
|
NM_206933.4(USH2A):c.5829T>C (p.Asp1943=)
|
rs140922350
|
0.00002
|
NM_206933.4(USH2A):c.8028G>A (p.Pro2676=)
|
rs766443785
|
0.00002
|
NM_000016.6(ACADM):c.126C>T (p.Thr42=)
|
rs765625793
|
0.00001
|
NM_000016.6(ACADM):c.195A>C (p.Ala65=)
|
rs771649282
|
0.00001
|
NM_000016.6(ACADM):c.610T>C (p.Leu204=)
|
rs776993753
|
0.00001
|
NM_000018.4(ACADVL):c.117C>T (p.Pro39=)
|
rs370883584
|
0.00001
|
NM_000018.4(ACADVL):c.1494T>G (p.Ala498=)
|
rs756867868
|
0.00001
|
NM_000018.4(ACADVL):c.1575C>A (p.Val525=)
|
rs745996278
|
0.00001
|
NM_000022.4(ADA):c.645C>T (p.Ala215=)
|
rs748671151
|
0.00001
|
NM_000023.4(SGCA):c.132G>A (p.Thr44=)
|
rs886044035
|
0.00001
|
NM_000023.4(SGCA):c.555C>A (p.Val185=)
|
rs201518390
|
0.00001
|
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_000030.3(AGXT):c.450G>A (p.Leu150=)
|
rs752385061
|
0.00001
|
NM_000033.4(ABCD1):c.1542C>T (p.Ser514=)
|
rs149643908
|
0.00001
|
NM_000033.4(ABCD1):c.1749G>A (p.Val583=)
|
rs1557054868
|
0.00001
|
NM_000035.4(ALDOB):c.1035C>T (p.His345=)
|
rs761508514
|
0.00001
|
NM_000035.4(ALDOB):c.243C>T (p.His81=)
|
rs182003715
|
0.00001
|
NM_000035.4(ALDOB):c.538C>A (p.Gln180Lys)
|
rs574635615
|
0.00001
|
NM_000035.4(ALDOB):c.654T>C (p.Asn218=)
|
rs780943027
|
0.00001
|
NM_000035.4(ALDOB):c.873T>A (p.Pro291=)
|
rs765247994
|
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_000048.4(ASL):c.1344C>T (p.Val448=)
|
rs144011206
|
0.00001
|
NM_000048.4(ASL):c.246C>T (p.Asn82=)
|
rs1281983139
|
0.00001
|
NM_000048.4(ASL):c.708G>C (p.Arg236=)
|
rs1206710088
|
0.00001
|
NM_000049.4(ASPA):c.483C>T (p.Ser161=)
|
rs748149345
|
0.00001
|
NM_000049.4(ASPA):c.807G>A (p.Thr269=)
|
rs759106494
|
0.00001
|
NM_000049.4(ASPA):c.843G>C (p.Val281=)
|
rs747218271
|
0.00001
|
NM_000049.4(ASPA):c.852T>C (p.Asn284=)
|
rs370915844
|
0.00001
|
NM_000051.4(ATM):c.2577C>T (p.Asn859=)
|
rs730881286
|
0.00001
|
NM_000051.4(ATM):c.3577-7C>T
|
rs558667657
|
0.00001
|
NM_000051.4(ATM):c.6687C>A (p.Val2229=)
|
rs1442555144
|
0.00001
|
NM_000052.7(ATP7A):c.1152T>C (p.Asp384=)
|
rs147225045
|
0.00001
|
NM_000052.7(ATP7A):c.1384C>G (p.Pro462Ala)
|
rs781964005
|
0.00001
|
NM_000052.7(ATP7A):c.3696G>A (p.Val1232=)
|
rs1557238252
|
0.00001
|
NM_000052.7(ATP7A):c.3957C>T (p.Gly1319=)
|
rs1271447006
|
0.00001
|
NM_000052.7(ATP7A):c.4497A>C (p.Ala1499=)
|
rs782053901
|
0.00001
|
NM_000052.7(ATP7A):c.470C>T (p.Ser157Leu)
|
rs782716555
|
0.00001
|
NM_000053.4(ATP7B):c.15G>A (p.Glu5=)
|
rs751634415
|
0.00001
|
NM_000053.4(ATP7B):c.2436T>C (p.Asn812=)
|
rs533967323
|
0.00001
|
NM_000053.4(ATP7B):c.2490C>T (p.Ile830=)
|
rs759213674
|
0.00001
|
NM_000053.4(ATP7B):c.2985C>T (p.Val995=)
|
rs758641148
|
0.00001
|
NM_000053.4(ATP7B):c.3291G>A (p.Val1097=)
|
rs766632973
|
0.00001
|
NM_000053.4(ATP7B):c.4110C>T (p.Ser1370=)
|
rs779979628
|
0.00001
|
NM_000053.4(ATP7B):c.4272T>C (p.Tyr1424=)
|
rs780613139
|
0.00001
|
NM_000053.4(ATP7B):c.4338C>T (p.Asp1446=)
|
rs760661082
|
0.00001
|
NM_000053.4(ATP7B):c.618T>C (p.Phe206=)
|
rs764353593
|
0.00001
|
NM_000057.4(BLM):c.1191G>C (p.Gly397=)
|
rs780393464
|
0.00001
|
NM_000057.4(BLM):c.1266T>C (p.Ser422=)
|
rs1895947616
|
0.00001
|
NM_000057.4(BLM):c.1305T>C (p.Leu435=)
|
rs778967807
|
0.00001
|
NM_000057.4(BLM):c.1536A>G (p.Gly512=)
|
rs777277614
|
0.00001
|
NM_000057.4(BLM):c.1785A>T (p.Ser595=)
|
rs79871543
|
0.00001
|
NM_000057.4(BLM):c.1863G>A (p.Glu621=)
|
rs374965438
|
0.00001
|
NM_000057.4(BLM):c.204C>T (p.Thr68=)
|
rs199927688
|
0.00001
|
NM_000057.4(BLM):c.2241A>G (p.Thr747=)
|
rs1060503987
|
0.00001
|
NM_000057.4(BLM):c.2505C>G (p.Pro835=)
|
rs1023396216
|
0.00001
|
NM_000057.4(BLM):c.2604G>A (p.Pro868=)
|
rs768447097
|
0.00001
|
NM_000057.4(BLM):c.261G>A (p.Lys87=)
|
rs372668612
|
0.00001
|
NM_000057.4(BLM):c.2679T>C (p.Ile893=)
|
rs751945434
|
0.00001
|
NM_000057.4(BLM):c.2691C>T (p.Ser897=)
|
rs756155242
|
0.00001
|
NM_000057.4(BLM):c.2868G>A (p.Pro956=)
|
rs199861261
|
0.00001
|
NM_000057.4(BLM):c.3195T>C (p.Asn1065=)
|
rs1297274221
|
0.00001
|
NM_000057.4(BLM):c.3345C>T (p.Val1115=)
|
rs773893026
|
0.00001
|
NM_000057.4(BLM):c.3348C>T (p.Asp1116=)
|
rs372697241
|
0.00001
|
NM_000057.4(BLM):c.372C>T (p.Asn124=)
|
rs776602757
|
0.00001
|
NM_000057.4(BLM):c.3752-6G>A
|
rs747358693
|
0.00001
|
NM_000057.4(BLM):c.3756T>A (p.Ser1252=)
|
rs771209895
|
0.00001
|
NM_000057.4(BLM):c.3867A>G (p.Thr1289=)
|
rs759000443
|
0.00001
|
NM_000057.4(BLM):c.3878A>G (p.Glu1293Gly)
|
rs746979958
|
0.00001
|
NM_000057.4(BLM):c.3933C>T (p.Ala1311=)
|
rs756451802
|
0.00001
|
NM_000057.4(BLM):c.453C>A (p.Ile151=)
|
rs1200887609
|
0.00001
|
NM_000057.4(BLM):c.933T>C (p.Ala311=)
|
rs1413246062
|
0.00001
|
NM_000070.3(CAPN3):c.1584C>T (p.Asn528=)
|
rs530529988
|
0.00001
|
NM_000070.3(CAPN3):c.450C>T (p.Pro150=)
|
rs1255302975
|
0.00001
|
NM_000071.3(CBS):c.687C>T (p.Pro229=)
|
rs769298649
|
0.00001
|
NM_000080.4(CHRNE):c.1098C>T (p.Ala366=)
|
rs778313885
|
0.00001
|
NM_000091.5(COL4A3):c.159T>C (p.Phe53=)
|
rs1217941846
|
0.00001
|
NM_000091.5(COL4A3):c.1674C>T (p.Leu558=)
|
rs762241502
|
0.00001
|
NM_000091.5(COL4A3):c.1944C>T (p.Leu648=)
|
rs199554662
|
0.00001
|
NM_000091.5(COL4A3):c.2712G>A (p.Gly904=)
|
rs781672496
|
0.00001
|
NM_000091.5(COL4A3):c.315T>C (p.Pro105=)
|
rs371460434
|
0.00001
|
NM_000091.5(COL4A3):c.3210+8G>A
|
rs545181831
|
0.00001
|
NM_000091.5(COL4A3):c.3690C>T (p.Pro1230=)
|
rs375442737
|
0.00001
|
NM_000091.5(COL4A3):c.4329G>A (p.Thr1443=)
|
rs778174094
|
0.00001
|
NM_000091.5(COL4A3):c.45G>A (p.Pro15=)
|
rs542100614
|
0.00001
|
NM_000092.5(COL4A4):c.2511G>A (p.Gly837=)
|
rs767522216
|
0.00001
|
NM_000092.5(COL4A4):c.3351T>C (p.Pro1117=)
|
rs747784952
|
0.00001
|
NM_000092.5(COL4A4):c.3495G>A (p.Pro1165=)
|
rs774011820
|
0.00001
|
NM_000094.4(COL7A1):c.1260C>T (p.Thr420=)
|
rs1212593883
|
0.00001
|
NM_000094.4(COL7A1):c.1551C>T (p.Thr517=)
|
rs199556963
|
0.00001
|
NM_000094.4(COL7A1):c.2124G>A (p.Arg708=)
|
rs760735053
|
0.00001
|
NM_000094.4(COL7A1):c.2646G>A (p.Ser882=)
|
rs770229628
|
0.00001
|
NM_000094.4(COL7A1):c.2808C>T (p.Val936=)
|
rs1559424416
|
0.00001
|
NM_000094.4(COL7A1):c.3136C>A (p.Pro1046Thr)
|
rs374283870
|
0.00001
|
NM_000094.4(COL7A1):c.3893G>A (p.Arg1298Lys)
|
rs530442803
|
0.00001
|
NM_000094.4(COL7A1):c.573C>G (p.Thr191=)
|
rs776540069
|
0.00001
|
NM_000094.4(COL7A1):c.6280-8G>A
|
rs1343979395
|
0.00001
|
NM_000094.4(COL7A1):c.8408-6C>A
|
rs749730480
|
0.00001
|
NM_000098.3(CPT2):c.1005T>C (p.Leu335=)
|
rs554776730
|
0.00001
|
NM_000098.3(CPT2):c.1557G>A (p.Glu519=)
|
rs1293579592
|
0.00001
|
NM_000098.3(CPT2):c.813A>G (p.Ala271=)
|
rs561154406
|
0.00001
|
NM_000102.4(CYP17A1):c.276C>T (p.Asp92=)
|
rs535575638
|
0.00001
|
NM_000103.4(CYP19A1):c.501C>A (p.Ser167=)
|
rs35900050
|
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_000112.4(SLC26A2):c.1647A>G (p.Pro549=)
|
rs200694484
|
0.00001
|
NM_000112.4(SLC26A2):c.21G>A (p.Glu7=)
|
rs768964077
|
0.00001
|
NM_000112.4(SLC26A2):c.858C>T (p.Leu286=)
|
rs748677654
|
0.00001
|
NM_000112.4(SLC26A2):c.996G>A (p.Pro332=)
|
rs376300575
|
0.00001
|
NM_000117.3(EMD):c.132G>A (p.Gln44=)
|
rs1322660028
|
0.00001
|
NM_000117.3(EMD):c.153C>A (p.Pro51=)
|
rs782051850
|
0.00001
|
NM_000117.3(EMD):c.582A>C (p.Ser194=)
|
rs781933286
|
0.00001
|
NM_000133.4(F9):c.1026G>A (p.Thr342=)
|
rs954954812
|
0.00001
|
NM_000133.4(F9):c.60A>G (p.Leu20=)
|
rs762082146
|
0.00001
|
NM_000133.4(F9):c.9C>T (p.Arg3=)
|
rs1335753805
|
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_000137.4(FAH):c.300C>T (p.Thr100=)
|
rs567587933
|
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_000151.4(G6PC1):c.615C>T (p.Ser205=)
|
rs374522795
|
0.00001
|
NM_000151.4(G6PC1):c.726G>A (p.Gln242=)
|
rs9905900
|
0.00001
|
NM_000152.5(GAA):c.1053G>A (p.Val351=)
|
rs773063199
|
0.00001
|
NM_000152.5(GAA):c.1410C>T (p.Asn470=)
|
rs886043068
|
0.00001
|
NM_000152.5(GAA):c.2097C>T (p.Leu699=)
|
rs1381174968
|
0.00001
|
NM_000152.5(GAA):c.2392A>G (p.Ile798Val)
|
rs752459996
|
0.00001
|
NM_000152.5(GAA):c.2424G>A (p.Pro808=)
|
rs763272351
|
0.00001
|
NM_000152.5(GAA):c.615G>A (p.Pro205=)
|
rs141427808
|
0.00001
|
NM_000153.4(GALC):c.114G>T (p.Ala38=)
|
rs749514611
|
0.00001
|
NM_000153.4(GALC):c.81C>T (p.Ala27=)
|
rs759433028
|
0.00001
|
NM_000153.4(GALC):c.970T>C (p.Leu324=)
|
rs1194954694
|
0.00001
|
NM_000154.2(GALK1):c.291C>G (p.Arg97=)
|
rs368542855
|
0.00001
|
NM_000154.2(GALK1):c.858G>A (p.Arg286=)
|
rs1349483506
|
0.00001
|
NM_000155.4(GALT):c.366T>G (p.Ala122=)
|
rs777382338
|
0.00001
|
NM_000155.4(GALT):c.762G>A (p.Leu254=)
|
rs748639317
|
0.00001
|
NM_000156.6(GAMT):c.414A>G (p.Pro138=)
|
rs1376380710
|
0.00001
|
NM_000158.4(GBE1):c.2103G>A (p.Pro701=)
|
rs775617188
|
0.00001
|
NM_000159.4(GCDH):c.1260C>T (p.His420=)
|
rs777575306
|
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_000170.3(GLDC):c.1359C>T (p.Ala453=)
|
rs766839627
|
0.00001
|
NM_000170.3(GLDC):c.1917G>A (p.Gly639=)
|
rs776998782
|
0.00001
|
NM_000170.3(GLDC):c.1941G>A (p.Pro647=)
|
rs1232468588
|
0.00001
|
NM_000170.3(GLDC):c.2793T>A (p.Ala931=)
|
rs367759326
|
0.00001
|
NM_000170.3(GLDC):c.63C>A (p.Arg21=)
|
rs372141443
|
0.00001
|
NM_000170.3(GLDC):c.96G>T (p.Pro32=)
|
rs1430526811
|
0.00001
|
NM_000182.5(HADHA):c.1389A>G (p.Glu463=)
|
rs772078762
|
0.00001
|
NM_000182.5(HADHA):c.1854G>C (p.Leu618=)
|
rs201393639
|
0.00001
|
NM_000182.5(HADHA):c.201G>A (p.Glu67=)
|
rs1574626650
|
0.00001
|
NM_000182.5(HADHA):c.751C>T (p.Leu251=)
|
rs778945181
|
0.00001
|
NM_000191.3(HMGCL):c.501C>T (p.Tyr167=)
|
rs200189529
|
0.00001
|
NM_000191.3(HMGCL):c.735C>A (p.Thr245=)
|
rs202074025
|
0.00001
|
NM_000195.5(HPS1):c.1245C>T (p.Pro415=)
|
rs879797527
|
0.00001
|
NM_000195.5(HPS1):c.2037G>A (p.Leu679=)
|
rs773611107
|
0.00001
|
NM_000198.4(HSD3B2):c.411C>A (p.Ile137=)
|
rs374909270
|
0.00001
|
NM_000198.4(HSD3B2):c.746G>A (p.Arg249Gln)
|
rs751984843
|
0.00001
|
NM_000198.4(HSD3B2):c.924C>T (p.Tyr308=)
|
rs587775183
|
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_000206.3(IL2RG):c.798T>C (p.Ser266=)
|
rs764914063
|
0.00001
|
NM_000206.3(IL2RG):c.816G>A (p.Leu272=)
|
rs1272158575
|
0.00001
|
NM_000231.3(SGCG):c.501A>T (p.Val167=)
|
rs560640452
|
0.00001
|
NM_000231.3(SGCG):c.615C>A (p.Ala205=)
|
rs142409090
|
0.00001
|
NM_000235.4(LIPA):c.1050C>T (p.Val350=)
|
rs1249046123
|
0.00001
|
NM_000235.4(LIPA):c.1128C>T (p.Asp376=)
|
rs200420117
|
0.00001
|
NM_000235.4(LIPA):c.318C>T (p.Phe106=)
|
rs1438679981
|
0.00001
|
NM_000237.3(LPL):c.900G>A (p.Gly300=)
|
rs748234170
|
0.00001
|
NM_000243.3(MEFV):c.1899G>A (p.Pro633=)
|
rs776315170
|
0.00001
|
NM_000243.3(MEFV):c.801A>G (p.Thr267=)
|
rs141455838
|
0.00001
|
NM_000246.4(CIITA):c.141C>G (p.Leu47=)
|
rs770687816
|
0.00001
|
NM_000246.4(CIITA):c.1568G>C (p.Cys523Ser)
|
rs200881105
|
0.00001
|
NM_000246.4(CIITA):c.2772C>T (p.Ser924=)
|
rs1332434918
|
0.00001
|
NM_000246.4(CIITA):c.3033C>G (p.Phe1011Leu)
|
rs576290462
|
0.00001
|
NM_000252.3(MTM1):c.1080A>G (p.Val360=)
|
rs782202285
|
0.00001
|
NM_000252.3(MTM1):c.1213A>G (p.Ile405Val)
|
rs373788741
|
0.00001
|
NM_000252.3(MTM1):c.1290C>T (p.Thr430=)
|
rs374725419
|
0.00001
|
NM_000252.3(MTM1):c.447A>G (p.Pro149=)
|
rs782149231
|
0.00001
|
NM_000252.3(MTM1):c.783C>T (p.Leu261=)
|
rs187394611
|
0.00001
|
NM_000255.4(MMUT):c.321C>T (p.Ile107=)
|
rs570459486
|
0.00001
|
NM_000255.4(MMUT):c.423G>A (p.Ala141=)
|
rs547142339
|
0.00001
|
NM_000260.4(MYO7A):c.1299C>T (p.Ile433=)
|
rs782163200
|
0.00001
|
NM_000260.4(MYO7A):c.2688G>A (p.Lys896=)
|
rs782192254
|
0.00001
|
NM_000260.4(MYO7A):c.2697G>A (p.Glu899=)
|
rs782531164
|
0.00001
|
NM_000260.4(MYO7A):c.345G>A (p.Ser115=)
|
rs781980240
|
0.00001
|
NM_000260.4(MYO7A):c.3660G>A (p.Pro1220=)
|
rs751497005
|
0.00001
|
NM_000260.4(MYO7A):c.4713G>A (p.Thr1571=)
|
rs568414079
|
0.00001
|
NM_000260.4(MYO7A):c.5928T>G (p.Ala1976=)
|
rs375155751
|
0.00001
|
NM_000260.4(MYO7A):c.6520T>C (p.Leu2174=)
|
rs377251326
|
0.00001
|
NM_000260.4(MYO7A):c.759C>T (p.His253=)
|
rs182220009
|
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_000271.5(NPC1):c.1356C>T (p.Asn452=)
|
rs758508630
|
0.00001
|
NM_000271.5(NPC1):c.2055T>C (p.Ile685=)
|
rs199856145
|
0.00001
|
NM_000271.5(NPC1):c.2508A>G (p.Pro836=)
|
rs1468600723
|
0.00001
|
NM_000271.5(NPC1):c.783G>A (p.Thr261=)
|
rs770731602
|
0.00001
|
NM_000274.4(OAT):c.352A>G (p.Asn118Asp)
|
rs367710098
|
0.00001
|
NM_000277.3(PAH):c.424C>T (p.Leu142=)
|
rs375364629
|
0.00001
|
NM_000277.3(PAH):c.612T>C (p.Tyr204=)
|
rs62514928
|
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_000288.4(PEX7):c.297A>G (p.Lys99=)
|
rs766858149
|
0.00001
|
NM_000288.4(PEX7):c.681C>T (p.Asp227=)
|
rs1236779327
|
0.00001
|
NM_000289.6(PFKM):c.483G>A (p.Leu161=)
|
rs199856938
|
0.00001
|
NM_000310.4(PPT1):c.48A>G (p.Pro16=)
|
rs1003007171
|
0.00001
|
NM_000310.4(PPT1):c.99G>A (p.Leu33=)
|
rs1294056746
|
0.00001
|
NM_000318.3(PEX2):c.66A>C (p.Ala22=)
|
rs572094828
|
0.00001
|
NM_000329.3(RPE65):c.886A>C (p.Arg296=)
|
rs1399365841
|
0.00001
|
NM_000330.4(RS1):c.213C>T (p.Phe71=)
|
rs764292483
|
0.00001
|
NM_000330.4(RS1):c.326+8G>C
|
rs752870628
|
0.00001
|
NM_000352.6(ABCC8):c.1818-7C>T
|
rs17846731
|
0.00001
|
NM_000352.6(ABCC8):c.3393C>T (p.Ile1131=)
|
rs776975807
|
0.00001
|
NM_000359.3(TGM1):c.1539C>T (p.Phe513=)
|
rs1383613653
|
0.00001
|
NM_000359.3(TGM1):c.2254C>T (p.Leu752=)
|
rs985569116
|
0.00001
|
NM_000360.4(TH):c.1128C>T (p.Phe376=)
|
rs769329337
|
0.00001
|
NM_000360.4(TH):c.1334+9G>A
|
rs758713265
|
0.00001
|
NM_000360.4(TH):c.582C>A (p.Phe194Leu)
|
rs555133070
|
0.00001
|
NM_000360.4(TH):c.644+10C>T
|
rs760886341
|
0.00001
|
NM_000360.4(TH):c.648C>T (p.Gly216=)
|
rs774810612
|
0.00001
|
NM_000360.4(TH):c.96G>A (p.Pro32=)
|
rs202167640
|
0.00001
|
NM_000370.3(TTPA):c.381T>C (p.Phe127=)
|
rs768075601
|
0.00001
|
NM_000382.3(ALDH3A2):c.1032T>C (p.Asn344=)
|
rs1220711241
|
0.00001
|
NM_000382.3(ALDH3A2):c.114G>A (p.Glu38=)
|
rs919836950
|
0.00001
|
NM_000383.4(AIRE):c.1248C>G (p.Pro416=)
|
rs74162064
|
0.00001
|
NM_000390.4(CHM):c.1929A>C (p.Thr643=)
|
rs747278560
|
0.00001
|
NM_000396.4(CTSK):c.8G>A (p.Gly3Glu)
|
rs202055627
|
0.00001
|
NM_000397.4(CYBB):c.126A>G (p.Thr42=)
|
rs782767053
|
0.00001
|
NM_000397.4(CYBB):c.30C>T (p.Leu10=)
|
rs781966553
|
0.00001
|
NM_000397.4(CYBB):c.43A>G (p.Ile15Val)
|
rs781809179
|
0.00001
|
NM_000397.4(CYBB):c.549G>A (p.Thr183=)
|
rs1556468340
|
0.00001
|
NM_000414.4(HSD17B4):c.1596T>C (p.His532=)
|
rs758045328
|
0.00001
|
NM_000414.4(HSD17B4):c.597G>A (p.Arg199=)
|
rs770261826
|
0.00001
|
NM_000441.2(SLC26A4):c.1257G>A (p.Lys419=)
|
rs747564818
|
0.00001
|
NM_000441.2(SLC26A4):c.135G>T (p.Thr45=)
|
rs756029600
|
0.00001
|
NM_000441.2(SLC26A4):c.2185C>T (p.Leu729=)
|
rs758851434
|
0.00001
|
NM_000441.2(SLC26A4):c.510A>G (p.Val170=)
|
rs1012979539
|
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_000481.4(AMT):c.1083G>A (p.Ala361=)
|
rs753899057
|
0.00001
|
NM_000481.4(AMT):c.123C>T (p.Phe41=)
|
rs774066970
|
0.00001
|
NM_000481.4(AMT):c.135C>T (p.His45=)
|
rs773881893
|
0.00001
|
NM_000486.6(AQP2):c.297C>T (p.Ala99=)
|
rs959834754
|
0.00001
|
NM_000486.6(AQP2):c.324G>A (p.Thr108=)
|
rs143940351
|
0.00001
|
NM_000487.6(ARSA):c.279C>T (p.Val93=)
|
rs756760904
|
0.00001
|
NM_000487.6(ARSA):c.558C>T (p.Asn186=)
|
rs574416131
|
0.00001
|
NM_000487.6(ARSA):c.639C>T (p.Asp213=)
|
rs1266367694
|
0.00001
|
NM_000487.6(ARSA):c.990C>T (p.His330=)
|
rs768366772
|
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_000492.4(CFTR):c.164+12T>C
|
rs121908790
|
0.00001
|
NM_000492.4(CFTR):c.1674A>G (p.Leu558=)
|
rs770896561
|
0.00001
|
NM_000492.4(CFTR):c.1707T>C (p.Tyr569=)
|
rs397508278
|
0.00001
|
NM_000492.4(CFTR):c.2112A>G (p.Pro704=)
|
rs926782023
|
0.00001
|
NM_000492.4(CFTR):c.2460A>T (p.Ile820=)
|
rs369664216
|
0.00001
|
NM_000492.4(CFTR):c.2835G>A (p.Ser945=)
|
rs193922513
|
0.00001
|
NM_000492.4(CFTR):c.3588A>T (p.Ser1196=)
|
rs759202870
|
0.00001
|
NM_000492.4(CFTR):c.3681A>G (p.Leu1227=)
|
rs943312470
|
0.00001
|
NM_000492.4(CFTR):c.3759G>A (p.Leu1253=)
|
rs117400534
|
0.00001
|
NM_000492.4(CFTR):c.4095G>A (p.Lys1365=)
|
rs759891255
|
0.00001
|
NM_000492.4(CFTR):c.900C>A (p.Ala300=)
|
rs146652541
|
0.00001
|
NM_000492.4(CFTR):c.927C>G (p.Ala309=)
|
rs1800084
|
0.00001
|
NM_000492.4(CFTR):c.978A>G (p.Ala326=)
|
rs757622174
|
0.00001
|
NM_000498.3(CYP11B2):c.142A>C (p.Arg48=)
|
rs1361270876
|
0.00001
|
NM_000498.3(CYP11B2):c.288T>C (p.Asp96=)
|
rs751360145
|
0.00001
|
NM_000517.6(HBA2):c.414C>T (p.Thr138=)
|
rs371394396
|
0.00001
|
NM_000518.5(HBB):c.286A>G (p.Lys96Glu)
|
rs33914359
|
0.00001
|
NM_000518.5(HBB):c.327C>T (p.Asn109=)
|
rs34933751
|
0.00001
|
NM_000518.5(HBB):c.60C>T (p.Asn20=)
|
rs63750840
|
0.00001
|
NM_000520.6(HEXA):c.1477C>T (p.Leu493=)
|
rs774313739
|
0.00001
|
NM_000525.4(KCNJ11):c.36C>T (p.Tyr12=)
|
rs104894236
|
0.00001
|
NM_000525.4(KCNJ11):c.561G>A (p.Ala187=)
|
rs1260020267
|
0.00001
|
NM_000527.5(LDLR):c.1239G>A (p.Thr413=)
|
rs777011006
|
0.00001
|
NM_000527.5(LDLR):c.2389+10G>A
|
rs780920371
|
0.00001
|
NM_000527.5(LDLR):c.2418C>A (p.Val806=)
|
rs771705902
|
0.00001
|
NM_000527.5(LDLR):c.543G>A (p.Pro181=)
|
rs766577671
|
0.00001
|
NM_000527.5(LDLR):c.585C>T (p.Ser195=)
|
rs756880555
|
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_000531.6(OTC):c.147C>T (p.Thr49=)
|
rs144153859
|
0.00001
|
NM_000532.5(PCCB):c.942C>T (p.Tyr314=)
|
rs572246667
|
0.00001
|
NM_000536.4(RAG2):c.63G>A (p.Leu21=)
|
rs142797325
|
0.00001
|
NM_000543.5(SMPD1):c.126G>A (p.Ala42=)
|
rs571806745
|
0.00001
|
NM_000543.5(SMPD1):c.1473C>T (p.Ile491=)
|
rs554647710
|
0.00001
|
NM_000543.5(SMPD1):c.1529C>T (p.Ser510Phe)
|
rs200652683
|
0.00001
|
NM_000543.5(SMPD1):c.1692C>T (p.Gly564=)
|
rs369787650
|
0.00001
|
NM_000543.5(SMPD1):c.390T>G (p.Pro130=)
|
rs371141815
|
0.00001
|
NM_000642.3(AGL):c.2574C>T (p.Val858=)
|
rs772038934
|
0.00001
|
NM_000709.4(BCKDHA):c.1317A>G (p.Pro439=)
|
rs749795206
|
0.00001
|
NM_000709.4(BCKDHA):c.435C>T (p.Ala145=)
|
rs369278165
|
0.00001
|
NM_000709.4(BCKDHA):c.693C>T (p.Val231=)
|
rs763610087
|
0.00001
|
NM_000784.4(CYP27A1):c.720C>T (p.Phe240=)
|
rs748075933
|
0.00001
|
NM_000925.4(PDHB):c.417T>C (p.Pro139=)
|
rs762644804
|
0.00001
|
NM_001003722.2(GLE1):c.1218C>G (p.Gly406=)
|
rs921186375
|
0.00001
|
NM_001003722.2(GLE1):c.822C>T (p.Val274=)
|
rs202111504
|
0.00001
|
NM_001017420.3(ESCO2):c.1593A>C (p.Ala531=)
|
rs1451610987
|
0.00001
|
NM_001017420.3(ESCO2):c.603A>G (p.Pro201=)
|
rs774506097
|
0.00001
|
NM_001017420.3(ESCO2):c.666G>A (p.Ser222=)
|
rs201608468
|
0.00001
|
NM_001017420.3(ESCO2):c.761C>T (p.Thr254Ile)
|
rs897825817
|
0.00001
|
NM_001017420.3(ESCO2):c.907A>C (p.Lys303Gln)
|
rs767444182
|
0.00001
|
NM_001033855.3(DCLRE1C):c.1510T>C (p.Leu504=)
|
rs1213911811
|
0.00001
|
NM_001033855.3(DCLRE1C):c.1887T>C (p.His629=)
|
rs749159797
|
0.00001
|
NM_001033855.3(DCLRE1C):c.1914T>C (p.Asn638=)
|
rs1564362421
|
0.00001
|
NM_001039958.2(MESP2):c.669G>C (p.Pro223=)
|
rs760409825
|
0.00001
|
NM_001042432.2(CLN3):c.33T>C (p.Phe11=)
|
rs1555469504
|
0.00001
|
NM_001079802.2(FKTN):c.198C>G (p.Ser66=)
|
rs367868644
|
0.00001
|
NM_001079802.2(FKTN):c.357A>G (p.Leu119=)
|
rs760933616
|
0.00001
|
NM_001079866.2(BCS1L):c.258T>C (p.His86=)
|
rs886055627
|
0.00001
|
NM_001079866.2(BCS1L):c.768C>G (p.Leu256=)
|
rs781666793
|
0.00001
|
NM_001079866.2(BCS1L):c.966C>T (p.Thr322=)
|
rs745785523
|
0.00001
|
NM_001122769.3(LCA5):c.1518C>T (p.Pro506=)
|
rs769091728
|
0.00001
|
NM_001126108.2(SLC12A3):c.2172C>T (p.Leu724=)
|
rs201038360
|
0.00001
|
NM_001126108.2(SLC12A3):c.2397C>T (p.Asp799=)
|
rs139943829
|
0.00001
|
NM_001126108.2(SLC12A3):c.2673T>C (p.His891=)
|
rs769641982
|
0.00001
|
NM_001127671.2(LIFR):c.3060G>A (p.Glu1020=)
|
rs537706381
|
0.00001
|
NM_001127671.2(LIFR):c.819T>C (p.Ser273=)
|
rs756161883
|
0.00001
|
NM_001130987.2(DYSF):c.1134T>C (p.Pro378=)
|
rs571559303
|
0.00001
|
NM_001130987.2(DYSF):c.297C>T (p.Ser99=)
|
rs763710844
|
0.00001
|
NM_001130987.2(DYSF):c.312C>G (p.Ala104=)
|
rs750834799
|
0.00001
|
NM_001130987.2(DYSF):c.315C>T (p.Pro105=)
|
rs1203731908
|
0.00001
|
NM_001130987.2(DYSF):c.5052C>T (p.Ile1684=)
|
rs2094956948
|
0.00001
|
NM_001130987.2(DYSF):c.5235C>T (p.Cys1745=)
|
rs1573061003
|
0.00001
|
NM_001130987.2(DYSF):c.5490G>A (p.Pro1830=)
|
rs759536240
|
0.00001
|
NM_001130987.2(DYSF):c.5625C>T (p.Ser1875=)
|
rs577921112
|
0.00001
|
NM_001130987.2(DYSF):c.5698C>T (p.Leu1900=)
|
rs780923865
|
0.00001
|
NM_001130987.2(DYSF):c.606G>A (p.Ala202=)
|
rs398123791
|
0.00001
|
NM_001130987.2(DYSF):c.6255C>T (p.Ala2085=)
|
rs1308247360
|
0.00001
|
NM_001130987.2(DYSF):c.6264C>T (p.Leu2088=)
|
rs539234900
|
0.00001
|
NM_001130987.2(DYSF):c.6294C>T (p.Phe2098=)
|
rs754852745
|
0.00001
|
NM_001130987.2(DYSF):c.693G>A (p.Gly231=)
|
rs775544808
|
0.00001
|
NM_001130987.2(DYSF):c.960C>T (p.Asp320=)
|
rs771325384
|
0.00001
|
NM_001134793.2(HYLS1):c.264A>G (p.Arg88=)
|
rs761511515
|
0.00001
|
NM_001134793.2(HYLS1):c.771T>C (p.His257=)
|
rs953498744
|
0.00001
|
NM_001142800.2(EYS):c.3060C>T (p.Ile1020=)
|
rs538242132
|
0.00001
|
NM_001142800.2(EYS):c.3141T>G (p.Leu1047=)
|
rs955368246
|
0.00001
|
NM_001142800.2(EYS):c.3918A>T (p.Pro1306=)
|
rs997369455
|
0.00001
|
NM_001142800.2(EYS):c.4347G>C (p.Leu1449=)
|
rs1582930118
|
0.00001
|
NM_001142800.2(EYS):c.5935T>C (p.Leu1979=)
|
rs962496239
|
0.00001
|
NM_001142800.2(EYS):c.6025A>G (p.Lys2009Glu)
|
rs559078881
|
0.00001
|
NM_001142800.2(EYS):c.6888T>C (p.His2296=)
|
rs1357255596
|
0.00001
|
NM_001142800.2(EYS):c.8901C>T (p.Tyr2967=)
|
rs1404137865
|
0.00001
|
NM_001164508.2(NEB):c.114G>A (p.Arg38=)
|
rs1578040445
|
0.00001
|
NM_001164508.2(NEB):c.11589C>T (p.Asp3863=)
|
rs372772607
|
0.00001
|
NM_001164508.2(NEB):c.13251A>C (p.Val4417=)
|
rs1246456851
|
0.00001
|
NM_001164508.2(NEB):c.1614T>C (p.His538=)
|
rs769074908
|
0.00001
|
NM_001164508.2(NEB):c.18531C>T (p.Arg6177=)
|
rs541088387
|
0.00001
|
NM_001164508.2(NEB):c.18762C>T (p.His6254=)
|
rs748339284
|
0.00001
|
NM_001164508.2(NEB):c.192G>A (p.Lys64=)
|
rs761189437
|
0.00001
|
NM_001164508.2(NEB):c.20727C>T (p.His6909=)
|
rs779779886
|
0.00001
|
NM_001164508.2(NEB):c.21735T>C (p.Asn7245=)
|
rs568248647
|
0.00001
|
NM_001164508.2(NEB):c.21906C>T (p.Asn7302=)
|
rs757845188
|
0.00001
|
NM_001164508.2(NEB):c.21976A>C (p.Arg7326=)
|
rs780790042
|
0.00001
|
NM_001164508.2(NEB):c.22629C>T (p.Pro7543=)
|
rs373263895
|
0.00001
|
NM_001164508.2(NEB):c.22986T>C (p.His7662=)
|
rs149606244
|
0.00001
|
NM_001164508.2(NEB):c.249C>T (p.Thr83=)
|
rs200936927
|
0.00001
|
NM_001164508.2(NEB):c.2931C>T (p.Asp977=)
|
rs1576205507
|
0.00001
|
NM_001164508.2(NEB):c.2979T>C (p.Phe993=)
|
rs780408206
|
0.00001
|
NM_001164508.2(NEB):c.4218A>G (p.Lys1406=)
|
rs754513702
|
0.00001
|
NM_001164508.2(NEB):c.4243C>T (p.Leu1415=)
|
rs749514411
|
0.00001
|
NM_001164508.2(NEB):c.6A>T (p.Ala2=)
|
rs778187569
|
0.00001
|
NM_001164508.2(NEB):c.7863C>T (p.Asp2621=)
|
rs1419803549
|
0.00001
|
NM_001164508.2(NEB):c.7908C>T (p.Asp2636=)
|
rs774348830
|
0.00001
|
NM_001164508.2(NEB):c.8775T>C (p.Thr2925=)
|
rs761257246
|
0.00001
|
NM_001164508.2(NEB):c.9051C>T (p.Ser3017=)
|
rs777722290
|
0.00001
|
NM_001164508.2(NEB):c.9504C>T (p.Thr3168=)
|
rs770587751
|
0.00001
|
NM_001174089.2(SLC4A11):c.1002C>T (p.Ile334=)
|
rs200404341
|
0.00001
|
NM_001174089.2(SLC4A11):c.1188C>T (p.Ala396=)
|
rs780280857
|
0.00001
|
NM_001174089.2(SLC4A11):c.1323C>T (p.Asn441=)
|
rs575773766
|
0.00001
|
NM_001174089.2(SLC4A11):c.1578C>T (p.Ala526=)
|
rs1247924686
|
0.00001
|
NM_001174089.2(SLC4A11):c.1623C>T (p.Leu541=)
|
rs749478923
|
0.00001
|
NM_001174089.2(SLC4A11):c.1911G>A (p.Leu637=)
|
rs771516809
|
0.00001
|
NM_001174089.2(SLC4A11):c.2073C>T (p.Asn691=)
|
rs201982813
|
0.00001
|
NM_001174089.2(SLC4A11):c.44-35C>T
|
rs777764569
|
0.00001
|
NM_001174089.2(SLC4A11):c.633G>A (p.Arg211=)
|
rs756221460
|
0.00001
|
NM_001201543.2(FAM161A):c.1473G>A (p.Leu491=)
|
rs551187535
|
0.00001
|
NM_001201543.2(FAM161A):c.171C>T (p.Pro57=)
|
rs764002326
|
0.00001
|
NM_001201543.2(FAM161A):c.246T>C (p.Phe82=)
|
rs777320853
|
0.00001
|
NM_001201543.2(FAM161A):c.678G>A (p.Arg226=)
|
rs1442927125
|
0.00001
|
NM_001243279.3(ACSF3):c.1374C>T (p.Thr458=)
|
rs761654873
|
0.00001
|
NM_001243279.3(ACSF3):c.705C>T (p.Asp235=)
|
rs766852572
|
0.00001
|
NM_001243279.3(ACSF3):c.738C>T (p.His246=)
|
rs112722289
|
0.00001
|
NM_001283009.2(RTEL1):c.150G>C (p.Leu50=)
|
rs1178822970
|
0.00001
|
NM_001283009.2(RTEL1):c.1794C>T (p.Phe598=)
|
rs1177652366
|
0.00001
|
NM_001283009.2(RTEL1):c.3012C>G (p.Pro1004=)
|
rs1331174859
|
0.00001
|
NM_001283009.2(RTEL1):c.3038C>T (p.Ala1013Val)
|
rs569586118
|
0.00001
|
NM_001283009.2(RTEL1):c.3087G>A (p.Leu1029=)
|
rs753147923
|
0.00001
|
NM_001283009.2(RTEL1):c.3138G>A (p.Gly1046=)
|
rs762571471
|
0.00001
|
NM_001283009.2(RTEL1):c.3465G>A (p.Val1155=)
|
rs779999962
|
0.00001
|
NM_001283009.2(RTEL1):c.3534G>A (p.Gln1178=)
|
rs781484810
|
0.00001
|
NM_001352514.2(HLCS):c.2505C>A (p.Gly835=)
|
rs199936080
|
0.00001
|
NM_001352514.2(HLCS):c.609C>T (p.Asp203=)
|
rs370118884
|
0.00001
|
NM_001352514.2(HLCS):c.696T>C (p.Pro232=)
|
rs200877859
|
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_001365088.1(SLC12A6):c.1017T>C (p.Tyr339=)
|
rs373193470
|
0.00001
|
NM_001369.3(DNAH5):c.10909C>T (p.Leu3637=)
|
rs748412220
|
0.00001
|
NM_001369.3(DNAH5):c.11463G>A (p.Thr3821=)
|
rs200744540
|
0.00001
|
NM_001369.3(DNAH5):c.12861C>T (p.Tyr4287=)
|
rs1389988921
|
0.00001
|
NM_001369.3(DNAH5):c.1431C>T (p.His477=)
|
rs1028207982
|
0.00001
|
NM_001369.3(DNAH5):c.3747C>T (p.Asp1249=)
|
rs1280894186
|
0.00001
|
NM_001369.3(DNAH5):c.4083C>T (p.Pro1361=)
|
rs149691390
|
0.00001
|
NM_001369.3(DNAH5):c.5616C>T (p.Asp1872=)
|
rs145129897
|
0.00001
|
NM_001369.3(DNAH5):c.8682T>C (p.Pro2894=)
|
rs761409642
|
0.00001
|
NM_001369.3(DNAH5):c.910T>C (p.Leu304=)
|
rs754396098
|
0.00001
|
NM_001371596.2(MFSD8):c.975A>G (p.Leu325=)
|
rs570989221
|
0.00001
|
NM_001378454.1(ALMS1):c.10611G>A (p.Lys3537=)
|
rs1470146152
|
0.00001
|
NM_001378454.1(ALMS1):c.10968G>C (p.Gly3656=)
|
rs1439789927
|
0.00001
|
NM_001378454.1(ALMS1):c.11688C>T (p.Asn3896=)
|
rs202172921
|
0.00001
|
NM_001378454.1(ALMS1):c.1185G>A (p.Gly395=)
|
rs1450546722
|
0.00001
|
NM_001378454.1(ALMS1):c.12216A>G (p.Leu4072=)
|
rs769083768
|
0.00001
|
NM_001378454.1(ALMS1):c.12282C>T (p.Cys4094=)
|
rs760968067
|
0.00001
|
NM_001378454.1(ALMS1):c.1962A>G (p.Pro654=)
|
rs1572931748
|
0.00001
|
NM_001378454.1(ALMS1):c.2079G>C (p.Leu693=)
|
rs1320005523
|
0.00001
|
NM_001378454.1(ALMS1):c.2187G>A (p.Glu729=)
|
rs536950181
|
0.00001
|
NM_001378454.1(ALMS1):c.234C>T (p.Ala78=)
|
rs368947491
|
0.00001
|
NM_001378454.1(ALMS1):c.2517T>G (p.Ala839=)
|
rs765949316
|
0.00001
|
NM_001378454.1(ALMS1):c.7089A>G (p.Leu2363=)
|
rs751020257
|
0.00001
|
NM_001378454.1(ALMS1):c.8655A>G (p.Arg2885=)
|
rs377249623
|
0.00001
|
NM_001378454.1(ALMS1):c.9538C>G (p.Arg3180Gly)
|
rs563393715
|
0.00001
|
NM_001384140.1(PCDH15):c.1185T>C (p.Phe395=)
|
rs1427922641
|
0.00001
|
NM_001384140.1(PCDH15):c.198T>C (p.Ala66=)
|
rs777099546
|
0.00001
|
NM_001384140.1(PCDH15):c.2445C>T (p.Asn815=)
|
rs768200772
|
0.00001
|
NM_001384474.1(LOXHD1):c.3450G>A (p.Gln1150=)
|
rs997622169
|
0.00001
|
NM_001386140.1(MTTP):c.1407C>T (p.Asp469=)
|
rs749203075
|
0.00001
|
NM_001386140.1(MTTP):c.2532C>T (p.Tyr844=)
|
rs781654995
|
0.00001
|
NM_001399.5(EDA):c.234T>C (p.Leu78=)
|
rs1569272277
|
0.00001
|
NM_001673.5(ASNS):c.1674T>C (p.Ala558=)
|
rs760440838
|
0.00001
|
NM_001692.4(ATP6V1B1):c.6C>T (p.Ala2=)
|
rs1553415239
|
0.00001
|
NM_001875.5(CPS1):c.1029C>T (p.Asn343=)
|
rs747138655
|
0.00001
|
NM_001875.5(CPS1):c.2601T>C (p.Ile867=)
|
rs375325824
|
0.00001
|
NM_001875.5(CPS1):c.2771C>G (p.Thr924Ser)
|
rs150463750
|
0.00001
|
NM_001953.5(TYMP):c.198G>A (p.Ala66=)
|
rs1172184794
|
0.00001
|
NM_002225.5(IVD):c.150T>A (p.Arg50=)
|
rs762440985
|
0.00001
|
NM_002225.5(IVD):c.690T>C (p.Gly230=)
|
rs1182189552
|
0.00001
|
NM_002435.3(MPI):c.1242G>A (p.Leu414=)
|
rs780975089
|
0.00001
|
NM_002435.3(MPI):c.285C>T (p.Pro95=)
|
rs1001297444
|
0.00001
|
NM_002437.5(MPV17):c.390C>G (p.Ala130=)
|
rs760281019
|
0.00001
|
NM_002454.3(MTRR):c.1179T>C (p.Ser393=)
|
rs1333791112
|
0.00001
|
NM_002454.3(MTRR):c.123C>T (p.Ser41=)
|
rs759379396
|
0.00001
|
NM_002454.3(MTRR):c.1266C>T (p.Ala422=)
|
rs981600908
|
0.00001
|
NM_002454.3(MTRR):c.401+10G>A
|
rs760026002
|
0.00001
|
NM_002454.3(MTRR):c.498A>G (p.Ala166=)
|
rs747865209
|
0.00001
|
NM_002485.5(NBN):c.415A>G (p.Thr139Ala)
|
rs543852763
|
0.00001
|
NM_002529.4(NTRK1):c.1020C>T (p.Thr340=)
|
rs781390842
|
0.00001
|
NM_002529.4(NTRK1):c.675C>T (p.Ala225=)
|
rs1407589933
|
0.00001
|
NM_002529.4(NTRK1):c.879G>A (p.Ala293=)
|
rs766259168
|
0.00001
|
NM_002778.4(PSAP):c.1422C>T (p.Phe474=)
|
rs528318545
|
0.00001
|
NM_003060.4(SLC22A5):c.300G>A (p.Gly100=)
|
rs552442289
|
0.00001
|
NM_003060.4(SLC22A5):c.318G>A (p.Gly106=)
|
rs1214969369
|
0.00001
|
NM_003227.4(TFR2):c.1527C>T (p.Asn509=)
|
rs201943504
|
0.00001
|
NM_003227.4(TFR2):c.177T>C (p.Pro59=)
|
rs961591005
|
0.00001
|
NM_003227.4(TFR2):c.2277C>T (p.Pro759=)
|
rs748376968
|
0.00001
|
NM_003227.4(TFR2):c.2400C>T (p.Asn800=)
|
rs766681676
|
0.00001
|
NM_003227.4(TFR2):c.420C>G (p.Leu140=)
|
rs778911966
|
0.00001
|
NM_003227.4(TFR2):c.690C>G (p.Asp230Glu)
|
rs41303465
|
0.00001
|
NM_003494.4(DYSF):c.27C>G (p.Ala9=)
|
rs771520271
|
0.00001
|
NM_003640.5(ELP1):c.1284A>T (p.Thr428=)
|
rs946387194
|
0.00001
|
NM_003640.5(ELP1):c.1320T>A (p.Ala440=)
|
rs745616203
|
0.00001
|
NM_003640.5(ELP1):c.2031G>C (p.Leu677=)
|
rs1315300646
|
0.00001
|
NM_003640.5(ELP1):c.2394T>C (p.Pro798=)
|
rs138819925
|
0.00001
|
NM_003640.5(ELP1):c.2454T>C (p.Leu818=)
|
rs893395625
|
0.00001
|
NM_003640.5(ELP1):c.2529T>C (p.His843=)
|
rs757233952
|
0.00001
|
NM_003640.5(ELP1):c.2598C>T (p.Pro866=)
|
rs773218149
|
0.00001
|
NM_003640.5(ELP1):c.273C>T (p.Asp91=)
|
rs772231917
|
0.00001
|
NM_003640.5(ELP1):c.3153T>A (p.Thr1051=)
|
rs1315617472
|
0.00001
|
NM_003640.5(ELP1):c.3183G>A (p.Lys1061=)
|
rs544766218
|
0.00001
|
NM_003640.5(ELP1):c.3636G>A (p.Pro1212=)
|
rs780520998
|
0.00001
|
NM_003640.5(ELP1):c.3714T>C (p.His1238=)
|
rs749975442
|
0.00001
|
NM_003640.5(ELP1):c.3819T>C (p.Ile1273=)
|
rs201242444
|
0.00001
|
NM_003640.5(ELP1):c.3918G>A (p.Ser1306=)
|
rs146862778
|
0.00001
|
NM_003640.5(ELP1):c.888A>G (p.Ala296=)
|
rs371923882
|
0.00001
|
NM_003640.5(ELP1):c.959-8C>T
|
rs766511916
|
0.00001
|
NM_003659.4(AGPS):c.141C>A (p.Gly47=)
|
rs1345248171
|
0.00001
|
NM_003742.4(ABCB11):c.1932G>A (p.Leu644=)
|
rs750100537
|
0.00001
|
NM_003742.4(ABCB11):c.2713T>C (p.Leu905=)
|
rs763006206
|
0.00001
|
NM_003742.4(ABCB11):c.3766-10C>T
|
rs369104228
|
0.00001
|
NM_003907.3(EIF2B5):c.1143C>T (p.Pro381=)
|
rs748745866
|
0.00001
|
NM_003907.3(EIF2B5):c.1329G>A (p.Leu443=)
|
rs531966163
|
0.00001
|
NM_003907.3(EIF2B5):c.1830C>T (p.Ser610=)
|
rs1455535271
|
0.00001
|
NM_003907.3(EIF2B5):c.600T>C (p.Asn200=)
|
rs757699338
|
0.00001
|
NM_003982.4(SLC7A7):c.58T>C (p.Leu20=)
|
rs1437964553
|
0.00001
|
NM_003982.4(SLC7A7):c.864A>G (p.Arg288=)
|
rs1304389598
|
0.00001
|
NM_004004.6(GJB2):c.456C>T (p.Tyr152=)
|
rs111033420
|
0.00001
|
NM_004006.3(DMD):c.1004T>C (p.Met335Thr)
|
rs540761988
|
0.00001
|
NM_004006.3(DMD):c.10087-8C>A
|
rs1261494456
|
0.00001
|
NM_004006.3(DMD):c.10146C>G (p.Thr3382=)
|
rs766427132
|
0.00001
|
NM_004006.3(DMD):c.10160C>T (p.Ala3387Val)
|
rs202219782
|
0.00001
|
NM_004006.3(DMD):c.10272G>A (p.Ser3424=)
|
rs1400465644
|
0.00001
|
NM_004006.3(DMD):c.10608G>A (p.Leu3536=)
|
rs773786369
|
0.00001
|
NM_004006.3(DMD):c.10734C>A (p.Ile3578=)
|
rs762374364
|
0.00001
|
NM_004006.3(DMD):c.10773C>T (p.His3591=)
|
rs768736629
|
0.00001
|
NM_004006.3(DMD):c.10797+10G>T
|
rs1372889768
|
0.00001
|
NM_004006.3(DMD):c.1080C>T (p.Asp360=)
|
rs1257660485
|
0.00001
|
NM_004006.3(DMD):c.10863C>T (p.Ser3621=)
|
rs398123847
|
0.00001
|
NM_004006.3(DMD):c.1150-4T>A
|
rs794727031
|
0.00001
|
NM_004006.3(DMD):c.1155C>T (p.Tyr385=)
|
rs1430845292
|
0.00001
|
NM_004006.3(DMD):c.1311T>C (p.Ala437=)
|
rs398123855
|
0.00001
|
NM_004006.3(DMD):c.1323A>G (p.Lys441=)
|
rs754706072
|
0.00001
|
NM_004006.3(DMD):c.1464C>T (p.Arg488=)
|
rs771891715
|
0.00001
|
NM_004006.3(DMD):c.1572C>T (p.His524=)
|
rs779611516
|
0.00001
|
NM_004006.3(DMD):c.1660T>C (p.Leu554=)
|
rs138371531
|
0.00001
|
NM_004006.3(DMD):c.1965C>T (p.Val655=)
|
rs1255068879
|
0.00001
|
NM_004006.3(DMD):c.21A>G (p.Val7=)
|
rs1374590369
|
0.00001
|
NM_004006.3(DMD):c.2226G>A (p.Leu742=)
|
rs775246170
|
0.00001
|
NM_004006.3(DMD):c.2292+10G>A
|
rs763586440
|
0.00001
|
NM_004006.3(DMD):c.2304A>G (p.Arg768=)
|
rs747670491
|
0.00001
|
NM_004006.3(DMD):c.2422C>T (p.Leu808=)
|
rs1289380956
|
0.00001
|
NM_004006.3(DMD):c.2472C>G (p.Asn824Lys)
|
rs778811645
|
0.00001
|
NM_004006.3(DMD):c.247G>A (p.Val83Ile)
|
rs1358774744
|
0.00001
|
NM_004006.3(DMD):c.2520A>G (p.Gln840=)
|
rs770324037
|
0.00001
|
NM_004006.3(DMD):c.2682C>T (p.Ser894=)
|
rs398123904
|
0.00001
|
NM_004006.3(DMD):c.294C>T (p.Asp98=)
|
rs965301743
|
0.00001
|
NM_004006.3(DMD):c.2950-9G>A
|
rs772822759
|
0.00001
|
NM_004006.3(DMD):c.2955A>G (p.Leu985=)
|
rs776362860
|
0.00001
|
NM_004006.3(DMD):c.2973G>A (p.Glu991=)
|
rs780454571
|
0.00001
|
NM_004006.3(DMD):c.3030G>A (p.Ala1010=)
|
rs72468666
|
0.00001
|
NM_004006.3(DMD):c.3249T>A (p.Ile1083=)
|
rs1235726996
|
0.00001
|
NM_004006.3(DMD):c.3283G>C (p.Val1095Leu)
|
rs183819382
|
0.00001
|
NM_004006.3(DMD):c.3360G>A (p.Glu1120=)
|
rs754467083
|
0.00001
|
NM_004006.3(DMD):c.3387A>G (p.Thr1129=)
|
rs765737579
|
0.00001
|
NM_004006.3(DMD):c.3472A>G (p.Lys1158Glu)
|
rs182728059
|
0.00001
|
NM_004006.3(DMD):c.3531A>G (p.Glu1177=)
|
rs751711333
|
0.00001
|
NM_004006.3(DMD):c.3590T>C (p.Val1197Ala)
|
rs777955789
|
0.00001
|
NM_004006.3(DMD):c.3635C>T (p.Ala1212Val)
|
rs142171890
|
0.00001
|
NM_004006.3(DMD):c.3777G>A (p.Lys1259=)
|
rs1445951268
|
0.00001
|
NM_004006.3(DMD):c.3891C>T (p.Gly1297=)
|
rs758317261
|
0.00001
|
NM_004006.3(DMD):c.396A>G (p.Gln132=)
|
rs1421854333
|
0.00001
|
NM_004006.3(DMD):c.3986C>T (p.Thr1329Ile)
|
rs770827878
|
0.00001
|
NM_004006.3(DMD):c.4014G>A (p.Glu1338=)
|
rs752324539
|
0.00001
|
NM_004006.3(DMD):c.4206C>T (p.Asp1402=)
|
rs766668051
|
0.00001
|
NM_004006.3(DMD):c.4383C>T (p.Phe1461=)
|
rs752977828
|
0.00001
|
NM_004006.3(DMD):c.4458T>A (p.Pro1486=)
|
rs775097950
|
0.00001
|
NM_004006.3(DMD):c.4845+7C>T
|
rs764100658
|
0.00001
|
NM_004006.3(DMD):c.4995C>T (p.Ser1665=)
|
rs775659020
|
0.00001
|
NM_004006.3(DMD):c.5001A>G (p.Ala1667=)
|
rs1603631751
|
0.00001
|
NM_004006.3(DMD):c.5040C>T (p.His1680=)
|
rs72468632
|
0.00001
|
NM_004006.3(DMD):c.531-9G>T
|
rs780448549
|
0.00001
|
NM_004006.3(DMD):c.5370A>C (p.Ile1790=)
|
rs748336386
|
0.00001
|
NM_004006.3(DMD):c.554G>A (p.Ser185Asn)
|
rs1168876204
|
0.00001
|
NM_004006.3(DMD):c.555T>C (p.Ser185=)
|
rs755537358
|
0.00001
|
NM_004006.3(DMD):c.5658T>C (p.Ala1886=)
|
rs398123994
|
0.00001
|
NM_004006.3(DMD):c.5715G>A (p.Glu1905=)
|
rs1304283961
|
0.00001
|
NM_004006.3(DMD):c.5728A>C (p.Arg1910=)
|
rs761647447
|
0.00001
|
NM_004006.3(DMD):c.5739+8T>C
|
rs1321625981
|
0.00001
|
NM_004006.3(DMD):c.5943G>A (p.Thr1981=)
|
rs757497844
|
0.00001
|
NM_004006.3(DMD):c.5964C>T (p.Asp1988=)
|
rs1057515869
|
0.00001
|
NM_004006.3(DMD):c.6033A>G (p.Leu2011=)
|
rs772889861
|
0.00001
|
NM_004006.3(DMD):c.6093C>T (p.Leu2031=)
|
rs745904383
|
0.00001
|
NM_004006.3(DMD):c.60A>G (p.Thr20=)
|
rs771449240
|
0.00001
|
NM_004006.3(DMD):c.6138A>G (p.Gln2046=)
|
rs780018882
|
0.00001
|
NM_004006.3(DMD):c.6140A>G (p.Gln2047Arg)
|
rs773782786
|
0.00001
|
NM_004006.3(DMD):c.6151C>T (p.Arg2051Trp)
|
rs140791274
|
0.00001
|
NM_004006.3(DMD):c.6195T>C (p.Ser2065=)
|
rs398124006
|
0.00001
|
NM_004006.3(DMD):c.6363A>G (p.Thr2121=)
|
rs754658612
|
0.00001
|
NM_004006.3(DMD):c.6393A>G (p.Gln2131=)
|
rs970683629
|
0.00001
|
NM_004006.3(DMD):c.639C>T (p.Leu213=)
|
rs779201084
|
0.00001
|
NM_004006.3(DMD):c.6438+10T>C
|
rs754382994
|
0.00001
|
NM_004006.3(DMD):c.6483A>G (p.Thr2161=)
|
rs776054222
|
0.00001
|
NM_004006.3(DMD):c.6553T>C (p.Leu2185=)
|
rs1326630806
|
0.00001
|
NM_004006.3(DMD):c.6921A>G (p.Arg2307=)
|
rs756907565
|
0.00001
|
NM_004006.3(DMD):c.7083A>C (p.Gly2361=)
|
rs1397611369
|
0.00001
|
NM_004006.3(DMD):c.7200+9G>A
|
rs748786108
|
0.00001
|
NM_004006.3(DMD):c.7235C>T (p.Ala2412Val)
|
rs771992420
|
0.00001
|
NM_004006.3(DMD):c.7335G>A (p.Val2445=)
|
rs1329493987
|
0.00001
|
NM_004006.3(DMD):c.7341A>G (p.Gln2447=)
|
rs780354773
|
0.00001
|
NM_004006.3(DMD):c.7397T>C (p.Met2466Thr)
|
rs764330616
|
0.00001
|
NM_004006.3(DMD):c.7543-7C>T
|
rs184574404
|
0.00001
|
NM_004006.3(DMD):c.7620G>A (p.Lys2540=)
|
rs1331437410
|
0.00001
|
NM_004006.3(DMD):c.7853A>G (p.Lys2618Arg)
|
rs972664841
|
0.00001
|
NM_004006.3(DMD):c.7956T>C (p.Ser2652=)
|
rs757902182
|
0.00001
|
NM_004006.3(DMD):c.7962T>C (p.Asp2654=)
|
rs374433647
|
0.00001
|
NM_004006.3(DMD):c.8083C>T (p.Pro2695Ser)
|
rs755445214
|
0.00001
|
NM_004006.3(DMD):c.8296C>T (p.Leu2766=)
|
rs751387739
|
0.00001
|
NM_004006.3(DMD):c.831+9T>G
|
rs777394873
|
0.00001
|
NM_004006.3(DMD):c.832-3C>T
|
rs777492476
|
0.00001
|
NM_004006.3(DMD):c.8355G>A (p.Lys2785=)
|
rs772646759
|
0.00001
|
NM_004006.3(DMD):c.8502T>C (p.Ile2834=)
|
rs1002021681
|
0.00001
|
NM_004006.3(DMD):c.8508C>T (p.Gly2836=)
|
rs374374549
|
0.00001
|
NM_004006.3(DMD):c.861G>A (p.Glu287=)
|
rs1284806719
|
0.00001
|
NM_004006.3(DMD):c.8673G>C (p.Leu2891=)
|
rs1032573101
|
0.00001
|
NM_004006.3(DMD):c.8694G>A (p.Gln2898=)
|
rs1162683398
|
0.00001
|
NM_004006.3(DMD):c.8836C>T (p.Leu2946=)
|
rs776570515
|
0.00001
|
NM_004006.3(DMD):c.8847G>A (p.Lys2949=)
|
rs185664502
|
0.00001
|
NM_004006.3(DMD):c.8865G>A (p.Val2955=)
|
rs374478841
|
0.00001
|
NM_004006.3(DMD):c.8945G>A (p.Arg2982Gln)
|
rs750579766
|
0.00001
|
NM_004006.3(DMD):c.894C>T (p.Ser298=)
|
rs763011155
|
0.00001
|
NM_004006.3(DMD):c.918T>C (p.Tyr306=)
|
rs149106712
|
0.00001
|
NM_004006.3(DMD):c.9361+8T>C
|
rs768282679
|
0.00001
|
NM_004006.3(DMD):c.9390T>C (p.Cys3130=)
|
rs1057523643
|
0.00001
|
NM_004006.3(DMD):c.9690C>T (p.Asp3230=)
|
rs767474138
|
0.00001
|
NM_004006.3(DMD):c.9808-10G>A
|
rs1060504674
|
0.00001
|
NM_004006.3(DMD):c.9828C>T (p.Ile3276=)
|
rs757899883
|
0.00001
|
NM_004035.7(ACOX1):c.720C>T (p.Leu240=)
|
rs764707636
|
0.00001
|
NM_004035.7(ACOX1):c.945-4G>A
|
rs765864808
|
0.00001
|
NM_004453.4(ETFDH):c.1083C>T (p.Tyr361=)
|
rs765063539
|
0.00001
|
NM_004453.4(ETFDH):c.12G>A (p.Pro4=)
|
rs373776053
|
0.00001
|
NM_004453.4(ETFDH):c.507T>C (p.His169=)
|
rs772286040
|
0.00001
|
NM_004629.2(FANCG):c.1365C>G (p.Thr455=)
|
rs767385265
|
0.00001
|
NM_004646.4(NPHS1):c.1899C>T (p.Thr633=)
|
rs748680209
|
0.00001
|
NM_004646.4(NPHS1):c.18G>A (p.Thr6=)
|
rs370650840
|
0.00001
|
NM_004646.4(NPHS1):c.3201C>T (p.Phe1067=)
|
rs749058353
|
0.00001
|
NM_004646.4(NPHS1):c.3555G>A (p.Pro1185=)
|
rs745445890
|
0.00001
|
NM_004646.4(NPHS1):c.549C>T (p.Ile183=)
|
rs768989615
|
0.00001
|
NM_004937.3(CTNS):c.341G>A (p.Arg114His)
|
rs559362332
|
0.00001
|
NM_004937.3(CTNS):c.966C>T (p.Asn322=)
|
rs767301567
|
0.00001
|
NM_005373.3(MPL):c.1119T>C (p.Gly373=)
|
rs748581599
|
0.00001
|
NM_005373.3(MPL):c.273C>T (p.Tyr91=)
|
rs759361904
|
0.00001
|
NM_005609.4(PYGM):c.1215C>T (p.Tyr405=)
|
rs371264447
|
0.00001
|
NM_005609.4(PYGM):c.1395G>A (p.Lys465=)
|
rs555057489
|
0.00001
|
NM_005609.4(PYGM):c.723C>T (p.Thr241=)
|
rs772848708
|
0.00001
|
NM_005629.4(SLC6A8):c.1496-7G>A
|
rs781814962
|
0.00001
|
NM_005629.4(SLC6A8):c.1791C>T (p.Pro597=)
|
rs782481058
|
0.00001
|
NM_005629.4(SLC6A8):c.204C>T (p.Phe68=)
|
rs782128137
|
0.00001
|
NM_005629.4(SLC6A8):c.522C>T (p.His174=)
|
rs1557044433
|
0.00001
|
NM_005629.4(SLC6A8):c.533C>G (p.Thr178Ser)
|
rs199937648
|
0.00001
|
NM_005709.4(USH1C):c.1236C>T (p.Leu412=)
|
rs755834769
|
0.00001
|
NM_005726.6(TSFM):c.271T>G (p.Trp91Gly)
|
rs542571914
|
0.00001
|
NM_005957.5(MTHFR):c.157T>C (p.Leu53=)
|
rs1205350004
|
0.00001
|
NM_005957.5(MTHFR):c.1641C>T (p.Asn547=)
|
rs764655005
|
0.00001
|
NM_005957.5(MTHFR):c.522C>T (p.Tyr174=)
|
rs941382680
|
0.00001
|
NM_006019.4(TCIRG1):c.1080A>G (p.Thr360=)
|
rs767700786
|
0.00001
|
NM_006019.4(TCIRG1):c.381C>T (p.Leu127=)
|
rs1266423367
|
0.00001
|
NM_006096.4(NDRG1):c.855+8G>A
|
rs776826543
|
0.00001
|
NM_006118.4(HAX1):c.505-9C>T
|
rs779604569
|
0.00001
|
NM_006261.5(PROP1):c.456T>C (p.Ala152=)
|
rs758911793
|
0.00001
|
NM_006493.4(CLN5):c.-109T>A
|
rs758802850
|
0.00001
|
NM_006493.4(CLN5):c.435A>G (p.Thr145=)
|
rs1031492461
|
0.00001
|
NM_006623.4(PHGDH):c.180C>T (p.Thr60=)
|
rs769991971
|
0.00001
|
NM_006623.4(PHGDH):c.639G>A (p.Thr213=)
|
rs1489385483
|
0.00001
|
NM_007259.5(VPS45):c.1255T>C (p.Tyr419His)
|
rs782431885
|
0.00001
|
NM_007259.5(VPS45):c.915A>G (p.Leu305=)
|
rs1385543985
|
0.00001
|
NM_012144.4(DNAI1):c.1176C>T (p.His392=)
|
rs1300176358
|
0.00001
|
NM_012144.4(DNAI1):c.1794C>T (p.Phe598=)
|
rs201746512
|
0.00001
|
NM_012203.2(GRHPR):c.578C>T (p.Ala193Val)
|
rs771231175
|
0.00001
|
NM_012203.2(GRHPR):c.756C>T (p.Asp252=)
|
rs777753552
|
0.00001
|
NM_012203.2(GRHPR):c.762G>A (p.Leu254=)
|
rs201872828
|
0.00001
|
NM_012203.2(GRHPR):c.771C>T (p.Ala257=)
|
rs367671150
|
0.00001
|
NM_012243.3(SLC35A3):c.378A>G (p.Leu126=)
|
rs761280692
|
0.00001
|
NM_013339.4(ALG6):c.1365G>A (p.Leu455=)
|
rs772957444
|
0.00001
|
NM_014049.5(ACAD9):c.1062C>T (p.Tyr354=)
|
rs886057957
|
0.00001
|
NM_014049.5(ACAD9):c.1332C>T (p.Ala444=)
|
rs368597127
|
0.00001
|
NM_014049.5(ACAD9):c.1398C>T (p.Thr466=)
|
rs772732061
|
0.00001
|
NM_014049.5(ACAD9):c.1399G>A (p.Val467Ile)
|
rs369361055
|
0.00001
|
NM_014049.5(ACAD9):c.284A>C (p.Asp95Ala)
|
rs761565265
|
0.00001
|
NM_014140.4(SMARCAL1):c.2245-10G>T
|
rs759266842
|
0.00001
|
NM_014140.4(SMARCAL1):c.258T>G (p.Pro86=)
|
rs763888223
|
0.00001
|
NM_014140.4(SMARCAL1):c.2787C>T (p.Ser929=)
|
rs755396021
|
0.00001
|
NM_014140.4(SMARCAL1):c.675G>A (p.Lys225=)
|
rs751534116
|
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_014249.4(NR2E3):c.1101-10T>C
|
rs763647845
|
0.00001
|
NM_014249.4(NR2E3):c.123G>A (p.Val41=)
|
rs555860015
|
0.00001
|
NM_014249.4(NR2E3):c.489G>A (p.Met163Ile)
|
rs534156309
|
0.00001
|
NM_014252.4(SLC25A15):c.225C>T (p.Ile75=)
|
rs765380976
|
0.00001
|
NM_014297.5(ETHE1):c.420C>T (p.Val140=)
|
rs374482389
|
0.00001
|
NM_014297.5(ETHE1):c.48C>G (p.Arg16=)
|
rs775755606
|
0.00001
|
NM_014363.6(SACS):c.11535A>G (p.Glu3845=)
|
rs750167647
|
0.00001
|
NM_014363.6(SACS):c.12606A>C (p.Thr4202=)
|
rs780674369
|
0.00001
|
NM_014363.6(SACS):c.13119C>T (p.Asp4373=)
|
rs368124828
|
0.00001
|
NM_014363.6(SACS):c.1683G>A (p.Val561=)
|
rs1485932032
|
0.00001
|
NM_014363.6(SACS):c.1728C>T (p.Tyr576=)
|
rs750748828
|
0.00001
|
NM_014363.6(SACS):c.1752A>G (p.Leu584=)
|
rs368626712
|
0.00001
|
NM_014363.6(SACS):c.2278T>C (p.Leu760=)
|
rs770454726
|
0.00001
|
NM_014363.6(SACS):c.2830T>C (p.Leu944=)
|
rs1348417682
|
0.00001
|
NM_014363.6(SACS):c.3096G>A (p.Glu1032=)
|
rs529746813
|
0.00001
|
NM_014363.6(SACS):c.8133G>A (p.Ser2711=)
|
rs143386746
|
0.00001
|
NM_014363.6(SACS):c.861C>T (p.Tyr287=)
|
rs200877272
|
0.00001
|
NM_014363.6(SACS):c.8922A>G (p.Leu2974=)
|
rs563864403
|
0.00001
|
NM_014363.6(SACS):c.8931A>G (p.Leu2977=)
|
rs376228714
|
0.00001
|
NM_014844.5(TECPR2):c.1704T>G (p.Thr568=)
|
rs749355080
|
0.00001
|
NM_014844.5(TECPR2):c.2694C>T (p.Ala898=)
|
rs202031176
|
0.00001
|
NM_014844.5(TECPR2):c.3486G>A (p.Thr1162=)
|
rs747983532
|
0.00001
|
NM_014844.5(TECPR2):c.3549G>A (p.Ala1183=)
|
rs564868110
|
0.00001
|
NM_014844.5(TECPR2):c.3744C>T (p.Pro1248=)
|
rs373973558
|
0.00001
|
NM_014844.5(TECPR2):c.3792C>T (p.Pro1264=)
|
rs766197921
|
0.00001
|
NM_014844.5(TECPR2):c.816G>A (p.Pro272=)
|
rs369410138
|
0.00001
|
NM_015166.4(MLC1):c.1071C>T (p.Ser357=)
|
rs1270153559
|
0.00001
|
NM_015166.4(MLC1):c.222C>T (p.Asn74=)
|
rs759148867
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2030C>T (p.Thr677Ile)
|
rs532768944
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2442T>C (p.Tyr814=)
|
rs770299101
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2838A>G (p.Arg946=)
|
rs754686404
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2841T>C (p.Leu947=)
|
rs556719572
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2997A>G (p.Ser999=)
|
rs1165700039
|
0.00001
|
NM_015474.4(SAMHD1):c.396C>T (p.Leu132=)
|
rs1216724127
|
0.00001
|
NM_015506.3(MMACHC):c.199T>C (p.Leu67=)
|
rs1272042617
|
0.00001
|
NM_015506.3(MMACHC):c.477C>T (p.Ala159=)
|
rs747698015
|
0.00001
|
NM_015506.3(MMACHC):c.633C>T (p.Pro211=)
|
rs577804554
|
0.00001
|
NM_015506.3(MMACHC):c.696C>T (p.Ala232=)
|
rs767496391
|
0.00001
|
NM_015506.3(MMACHC):c.75C>A (p.Pro25=)
|
rs749003802
|
0.00001
|
NM_015627.3(LDLRAP1):c.617-8C>T
|
rs746302717
|
0.00001
|
NM_015702.3(MMADHC):c.585T>C (p.Ile195=)
|
rs757784250
|
0.00001
|
NM_015702.3(MMADHC):c.855A>T (p.Pro285=)
|
rs768988562
|
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_017739.4(POMGNT1):c.1365G>A (p.Arg455=)
|
rs774554415
|
0.00001
|
NM_017739.4(POMGNT1):c.1596T>C (p.Asn532=)
|
rs200730202
|
0.00001
|
NM_017739.4(POMGNT1):c.1605-9C>T
|
rs368345562
|
0.00001
|
NM_017739.4(POMGNT1):c.405C>T (p.Val135=)
|
rs777809507
|
0.00001
|
NM_017739.4(POMGNT1):c.735A>G (p.Pro245=)
|
rs139266745
|
0.00001
|
NM_018006.5(TRMU):c.1125C>T (p.Asp375=)
|
rs779022860
|
0.00001
|
NM_018941.4(CLN8):c.75C>T (p.Ser25=)
|
rs1276904511
|
0.00001
|
NM_018941.4(CLN8):c.795C>T (p.Phe265=)
|
rs760610632
|
0.00001
|
NM_020166.5(MCCC1):c.1281C>T (p.Ser427=)
|
rs763713221
|
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_022124.6(CDH23):c.3192C>T (p.Ala1064=)
|
rs767119185
|
0.00001
|
NM_022124.6(CDH23):c.4011C>A (p.Ala1337=)
|
rs761003107
|
0.00001
|
NM_022124.6(CDH23):c.4425C>T (p.Ser1475=)
|
rs554295504
|
0.00001
|
NM_022124.6(CDH23):c.4536C>A (p.Ile1512=)
|
rs191759543
|
0.00001
|
NM_022124.6(CDH23):c.5112C>T (p.His1704=)
|
rs774919846
|
0.00001
|
NM_022124.6(CDH23):c.7086C>T (p.Tyr2362=)
|
rs1287792582
|
0.00001
|
NM_022124.6(CDH23):c.7131C>T (p.Asn2377=)
|
rs369805384
|
0.00001
|
NM_022124.6(CDH23):c.777C>A (p.Thr259=)
|
rs542798557
|
0.00001
|
NM_022124.6(CDH23):c.9237C>T (p.Ala3079=)
|
rs753289128
|
0.00001
|
NM_022132.5(MCCC2):c.1014C>T (p.Ile338=)
|
rs760703487
|
0.00001
|
NM_022132.5(MCCC2):c.330C>T (p.Asp110=)
|
rs201872484
|
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_024649.5(BBS1):c.1467C>T (p.His489=)
|
rs749008475
|
0.00001
|
NM_024649.5(BBS1):c.723+7G>A
|
rs770220426
|
0.00001
|
NM_024685.4(BBS10):c.2142T>G (p.Val714=)
|
rs1463359253
|
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_025114.4(CEP290):c.5259A>C (p.Ala1753=)
|
rs747328752
|
0.00001
|
NM_025114.4(CEP290):c.5385T>C (p.Asn1795=)
|
rs1452561924
|
0.00001
|
NM_025114.4(CEP290):c.6132T>G (p.Pro2044=)
|
rs765002773
|
0.00001
|
NM_025114.4(CEP290):c.6642A>G (p.Lys2214=)
|
rs1409872235
|
0.00001
|
NM_025215.6(PUS1):c.966G>A (p.Lys322=)
|
rs746905159
|
0.00001
|
NM_025216.3(WNT10A):c.891C>G (p.Ala297=)
|
rs748083299
|
0.00001
|
NM_025216.3(WNT10A):c.957G>T (p.Ser319=)
|
rs774589067
|
0.00001
|
NM_032383.5(HPS3):c.2181C>T (p.Thr727=)
|
rs573058813
|
0.00001
|
NM_032520.5(GNPTG):c.36C>T (p.Leu12=)
|
rs1567179547
|
0.00001
|
NM_033056.4(PCDH15):c.4524G>A (p.Lys1508=)
|
rs200141161
|
0.00001
|
NM_033056.4(PCDH15):c.4770T>C (p.Asn1590=)
|
rs372095792
|
0.00001
|
NM_033305.3(VPS13A):c.1165T>C (p.Leu389=)
|
rs547171069
|
0.00001
|
NM_033305.3(VPS13A):c.1380T>C (p.Pro460=)
|
rs750046579
|
0.00001
|
NM_033305.3(VPS13A):c.1734T>C (p.Val578=)
|
rs201027855
|
0.00001
|
NM_033305.3(VPS13A):c.2304A>G (p.Gly768=)
|
rs764549391
|
0.00001
|
NM_033305.3(VPS13A):c.2766C>T (p.Tyr922=)
|
rs763126524
|
0.00001
|
NM_033305.3(VPS13A):c.284-4A>G
|
rs534441636
|
0.00001
|
NM_033305.3(VPS13A):c.6102C>T (p.Phe2034=)
|
rs569599272
|
0.00001
|
NM_033305.3(VPS13A):c.7821T>C (p.Pro2607=)
|
rs774617189
|
0.00001
|
NM_033305.3(VPS13A):c.7851G>A (p.Pro2617=)
|
rs753711996
|
0.00001
|
NM_033305.3(VPS13A):c.9077+8C>T
|
rs1325690140
|
0.00001
|
NM_033305.3(VPS13A):c.927A>G (p.Ala309=)
|
rs749004984
|
0.00001
|
NM_033380.3(COL4A5):c.142-4G>T
|
rs780759600
|
0.00001
|
NM_033380.3(COL4A5):c.1635T>G (p.Gly545=)
|
rs1329747854
|
0.00001
|
NM_033380.3(COL4A5):c.213G>A (p.Pro71=)
|
rs764172210
|
0.00001
|
NM_033380.3(COL4A5):c.2362C>T (p.Arg788Cys)
|
rs762935451
|
0.00001
|
NM_033380.3(COL4A5):c.2466A>G (p.Gly822=)
|
rs375746429
|
0.00001
|
NM_033380.3(COL4A5):c.2657C>G (p.Ala886Gly)
|
rs367714441
|
0.00001
|
NM_033380.3(COL4A5):c.3084C>T (p.Thr1028=)
|
rs141043288
|
0.00001
|
NM_033380.3(COL4A5):c.779A>G (p.Gln260Arg)
|
rs372889859
|
0.00001
|
NM_052845.4(MMAB):c.543G>A (p.Ala181=)
|
rs145411521
|
0.00001
|
NM_054012.4(ASS1):c.1014C>T (p.Ile338=)
|
rs749554993
|
0.00001
|
NM_054012.4(ASS1):c.1083C>T (p.Leu361=)
|
rs78564724
|
0.00001
|
NM_054012.4(ASS1):c.261C>T (p.Tyr87=)
|
rs749648285
|
0.00001
|
NM_054012.4(ASS1):c.711C>T (p.Asn237=)
|
rs779981831
|
0.00001
|
NM_130849.4(SLC39A4):c.216G>A (p.Leu72=)
|
rs782722255
|
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_138694.4(PKHD1):c.10456T>C (p.Leu3486=)
|
rs1466831280
|
0.00001
|
NM_138694.4(PKHD1):c.1131T>C (p.Ser377=)
|
rs754777157
|
0.00001
|
NM_138694.4(PKHD1):c.11754G>T (p.Gly3918=)
|
rs547420174
|
0.00001
|
NM_138694.4(PKHD1):c.11775G>T (p.Val3925=)
|
rs1581731432
|
0.00001
|
NM_138694.4(PKHD1):c.11844T>C (p.Asn3948=)
|
rs199564783
|
0.00001
|
NM_138694.4(PKHD1):c.12159C>T (p.Ser4053=)
|
rs1186724457
|
0.00001
|
NM_138694.4(PKHD1):c.1830T>C (p.Tyr610=)
|
rs749293235
|
0.00001
|
NM_138694.4(PKHD1):c.1917A>T (p.Val639=)
|
rs1192699542
|
0.00001
|
NM_138694.4(PKHD1):c.1929C>A (p.Thr643=)
|
rs775144938
|
0.00001
|
NM_138694.4(PKHD1):c.192C>T (p.Asn64=)
|
rs148089143
|
0.00001
|
NM_138694.4(PKHD1):c.210C>T (p.Pro70=)
|
rs372103359
|
0.00001
|
NM_138694.4(PKHD1):c.2802T>C (p.His934=)
|
rs1046496759
|
0.00001
|
NM_138694.4(PKHD1):c.3171T>C (p.Cys1057=)
|
rs745329565
|
0.00001
|
NM_138694.4(PKHD1):c.3288T>C (p.Leu1096=)
|
rs751889282
|
0.00001
|
NM_138694.4(PKHD1):c.3444C>T (p.Ala1148=)
|
rs768475335
|
0.00001
|
NM_138694.4(PKHD1):c.3774C>T (p.Pro1258=)
|
rs765696714
|
0.00001
|
NM_138694.4(PKHD1):c.381T>C (p.Cys127=)
|
rs755926109
|
0.00001
|
NM_138694.4(PKHD1):c.3897A>C (p.Ala1299=)
|
rs1581812316
|
0.00001
|
NM_138694.4(PKHD1):c.4224T>C (p.Thr1408=)
|
rs1348053835
|
0.00001
|
NM_138694.4(PKHD1):c.4647C>T (p.Tyr1549=)
|
rs761341768
|
0.00001
|
NM_138694.4(PKHD1):c.5226G>A (p.Thr1742=)
|
rs747933439
|
0.00001
|
NM_138694.4(PKHD1):c.5229G>A (p.Glu1743=)
|
rs768277731
|
0.00001
|
NM_138694.4(PKHD1):c.5511C>T (p.Leu1837=)
|
rs1241103975
|
0.00001
|
NM_138694.4(PKHD1):c.5688G>A (p.Thr1896=)
|
rs1050674532
|
0.00001
|
NM_138694.4(PKHD1):c.5706C>T (p.Thr1902=)
|
rs755566688
|
0.00001
|
NM_138694.4(PKHD1):c.5857T>C (p.Leu1953=)
|
rs1337056978
|
0.00001
|
NM_138694.4(PKHD1):c.6054C>T (p.Tyr2018=)
|
rs774944622
|
0.00001
|
NM_138694.4(PKHD1):c.6075T>C (p.Tyr2025=)
|
rs199747902
|
0.00001
|
NM_138694.4(PKHD1):c.6351A>G (p.Thr2117=)
|
rs766729223
|
0.00001
|
NM_138694.4(PKHD1):c.6789A>G (p.Leu2263=)
|
rs756262878
|
0.00001
|
NM_138694.4(PKHD1):c.6885T>C (p.Asn2295=)
|
rs749198425
|
0.00001
|
NM_138694.4(PKHD1):c.7482A>T (p.Gly2494=)
|
rs199996156
|
0.00001
|
NM_138694.4(PKHD1):c.7989C>T (p.Asp2663=)
|
rs950565294
|
0.00001
|
NM_138694.4(PKHD1):c.8679T>C (p.His2893=)
|
rs1229318498
|
0.00001
|
NM_138694.4(PKHD1):c.9216G>A (p.Ala3072=)
|
rs764734730
|
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_152618.3(BBS12):c.243T>C (p.Tyr81=)
|
rs772942987
|
0.00001
|
NM_152618.3(BBS12):c.624A>G (p.Ala208=)
|
rs1423331367
|
0.00001
|
NM_153676.4(USH1C):c.2400C>T (p.Asp800=)
|
rs139787873
|
0.00001
|
NM_153717.3(EVC):c.1101C>T (p.Asp367=)
|
rs186537549
|
0.00001
|
NM_153717.3(EVC):c.1315+8G>A
|
rs550411377
|
0.00001
|
NM_153717.3(EVC):c.1602C>T (p.Phe534=)
|
rs766294209
|
0.00001
|
NM_153717.3(EVC):c.2520G>A (p.Thr840=)
|
rs187406722
|
0.00001
|
NM_153717.3(EVC):c.510C>T (p.Asp170=)
|
rs757930422
|
0.00001
|
NM_172250.3(MMAA):c.734-8A>G
|
rs778057240
|
0.00001
|
NM_174878.3(CLRN1):c.270C>G (p.Leu90=)
|
rs143232961
|
0.00001
|
NM_174878.3(CLRN1):c.540G>A (p.Thr180=)
|
rs774615126
|
0.00001
|
NM_178138.6(LHX3):c.79+1933G>C
|
rs1391957672
|
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_183050.4(BCKDHB):c.90G>A (p.Gly30=)
|
rs553058134
|
0.00001
|
NM_201253.3(CRB1):c.1206T>C (p.Ser402=)
|
rs373229699
|
0.00001
|
NM_201253.3(CRB1):c.1479C>T (p.Phe493=)
|
rs770919155
|
0.00001
|
NM_201253.3(CRB1):c.1752C>T (p.Asp584=)
|
rs750442312
|
0.00001
|
NM_201253.3(CRB1):c.1977G>A (p.Ser659=)
|
rs1457627160
|
0.00001
|
NM_201253.3(CRB1):c.1995T>C (p.Asn665=)
|
rs774597710
|
0.00001
|
NM_201253.3(CRB1):c.207C>T (p.Asn69=)
|
rs1302750453
|
0.00001
|
NM_201253.3(CRB1):c.2286T>C (p.Tyr762=)
|
rs1192399919
|
0.00001
|
NM_201253.3(CRB1):c.2823G>A (p.Pro941=)
|
rs62645757
|
0.00001
|
NM_201253.3(CRB1):c.3042T>C (p.Ser1014=)
|
rs374426440
|
0.00001
|
NM_201253.3(CRB1):c.763C>T (p.Leu255=)
|
rs1659649148
|
0.00001
|
NM_201253.3(CRB1):c.957T>C (p.Ser319=)
|
rs765228022
|
0.00001
|
NM_201525.4(ADGRG1):c.1143C>T (p.His381=)
|
rs746825547
|
0.00001
|
NM_201525.4(ADGRG1):c.1200G>A (p.Lys400=)
|
rs760911899
|
0.00001
|
NM_201525.4(ADGRG1):c.1236C>T (p.Val412=)
|
rs768769972
|
0.00001
|
NM_201525.4(ADGRG1):c.1560C>T (p.Phe520=)
|
rs548451753
|
0.00001
|
NM_201525.4(ADGRG1):c.2049G>A (p.Ser683=)
|
rs771915499
|
0.00001
|
NM_201525.4(ADGRG1):c.553C>T (p.Leu185=)
|
rs138495764
|
0.00001
|
NM_201525.4(ADGRG1):c.831G>A (p.Thr277=)
|
rs552642182
|
0.00001
|
NM_206933.4(USH2A):c.10950A>G (p.Pro3650=)
|
rs372690499
|
0.00001
|
NM_206933.4(USH2A):c.12045C>T (p.Thr4015=)
|
rs755924483
|
0.00001
|
NM_206933.4(USH2A):c.12369T>C (p.Asp4123=)
|
rs779194517
|
0.00001
|
NM_206933.4(USH2A):c.12585C>T (p.Phe4195=)
|
rs763205825
|
0.00001
|
NM_206933.4(USH2A):c.12876T>C (p.Asn4292=)
|
rs762246558
|
0.00001
|
NM_206933.4(USH2A):c.13236G>A (p.Gln4412=)
|
rs1013791595
|
0.00001
|
NM_206933.4(USH2A):c.3762C>A (p.Ile1254=)
|
rs533691745
|
0.00001
|
NM_206933.4(USH2A):c.6780C>G (p.Ser2260=)
|
rs762148018
|
0.00001
|
NM_206933.4(USH2A):c.705A>G (p.Thr235=)
|
rs767897482
|
0.00001
|
NM_206933.4(USH2A):c.7230A>T (p.Val2410=)
|
rs202162396
|
0.00001
|
NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe)
|
rs41315579
|
0.00001
|
NM_206933.4(USH2A):c.9528T>G (p.Pro3176=)
|
rs781101196
|
0.00001
|
NM_206933.4(USH2A):c.9714T>C (p.Ser3238=)
|
rs979950007
|
0.00001
|
NM_000016.6(ACADM):c.118+114A>G
|
rs875989868
|
|
NM_000016.6(ACADM):c.579C>T (p.Thr193=)
|
rs534575785
|
|
NM_000018.4(ACADVL):c.1605+7G>C
|
rs572010910
|
|
NM_000019.4(ACAT1):c.436-4G>C
|
rs3741050
|
|
NM_000022.4(ADA):c.822G>A (p.Pro274=)
|
rs562095440
|
|
NM_000027.4(AGA):c.18C>T (p.Asn6=)
|
rs1579047707
|
|
NM_000027.4(AGA):c.19T>C (p.Leu7=)
|
rs2111028551
|
|
NM_000030.3(AGXT):c.840G>A (p.Ala280=)
|
rs143295006
|
|
NM_000033.4(ABCD1):c.-20C>T
|
rs782004770
|
|
NM_000033.4(ABCD1):c.1092C>G (p.Ala364=)
|
rs782250326
|
|
NM_000033.4(ABCD1):c.1326C>T (p.Asp442=)
|
rs782419455
|
|
NM_000033.4(ABCD1):c.1367G>A (p.Arg456His)
|
rs782159028
|
|
NM_000033.4(ABCD1):c.2043C>G (p.Phe681Leu)
|
rs782327280
|
|
NM_000033.4(ABCD1):c.615G>A (p.Ala205=)
|
rs782601474
|
|
NM_000033.4(ABCD1):c.696G>A (p.Ala232=)
|
rs147595334
|
|
NM_000048.4(ASL):c.399G>C (p.Ser133=)
|
rs141584041
|
|
NM_000048.4(ASL):c.741G>A (p.Ser247=)
|
rs371927473
|
|
NM_000048.4(ASL):c.99C>G (p.His33Gln)
|
rs142077823
|
|
NM_000051.4(ATM):c.15T>G (p.Leu5=)
|
rs1357506783
|
|
NM_000051.4(ATM):c.2031T>C (p.Ser677=)
|
rs1591534580
|
|
NM_000051.4(ATM):c.2754T>C (p.Phe918=)
|
rs758955717
|
|
NM_000051.4(ATM):c.2805G>C (p.Thr935=)
|
rs55934812
|
|
NM_000051.4(ATM):c.2805G>T (p.Thr935=)
|
rs55934812
|
|
NM_000051.4(ATM):c.5268A>T (p.Thr1756=)
|
rs1591708913
|
|
NM_000051.4(ATM):c.5958T>A (p.Ile1986=)
|
rs2136060867
|
|
NM_000051.4(ATM):c.6100C>A (p.Arg2034=)
|
rs532480170
|
|
NM_000052.7(ATP7A):c.1788C>A (p.Ser596=)
|
rs368747913
|
|
NM_000052.7(ATP7A):c.1931A>G (p.Lys644Arg)
|
rs781900997
|
|
NM_000052.7(ATP7A):c.373G>T (p.Val125Leu)
|
rs782688596
|
|
NM_000052.7(ATP7A):c.3883C>A (p.Arg1295=)
|
rs372489000
|
|
NM_000052.7(ATP7A):c.4267C>T (p.Arg1423Trp)
|
rs149079962
|
|
NM_000053.4(ATP7B):c.-396C>G
|
rs145371060
|
|
NM_000053.4(ATP7B):c.1164G>A (p.Gln388=)
|
rs2140070526
|
|
NM_000053.4(ATP7B):c.1762A>C (p.Arg588=)
|
rs1566559391
|
|
NM_000053.4(ATP7B):c.2976C>A (p.Pro992=)
|
rs746358240
|
|
NM_000053.4(ATP7B):c.2997C>G (p.Thr999=)
|
rs199581971
|
|
NM_000053.4(ATP7B):c.540C>T (p.Asn180=)
|
rs537892210
|
|
NM_000053.4(ATP7B):c.879G>A (p.Glu293=)
|
rs1593789326
|
|
NM_000057.4(BLM):c.1305T>G (p.Leu435=)
|
rs778967807
|
|
NM_000057.4(BLM):c.1362T>C (p.Asn454=)
|
rs1156488243
|
|
NM_000057.4(BLM):c.234C>T (p.Pro78=)
|
rs970793829
|
|
NM_000057.4(BLM):c.3180T>C (p.Asp1060=)
|
rs749458622
|
|
NM_000057.4(BLM):c.348G>A (p.Lys116=)
|
rs749535664
|
|
NM_000057.4(BLM):c.3747T>A (p.Leu1249=)
|
rs776748831
|
|
NM_000057.4(BLM):c.3948C>T (p.Asp1316=)
|
rs375896520
|
|
NM_000057.4(BLM):c.3957A>T (p.Ile1319=)
|
rs1555425082
|
|
NM_000057.4(BLM):c.486T>C (p.Thr162=)
|
rs1596218608
|
|
NM_000057.4(BLM):c.489T>C (p.Ser163=)
|
rs781044650
|
|
NM_000057.4(BLM):c.930T>C (p.Ser310=)
|
rs1471248156
|
|
NM_000070.3(CAPN3):c.1227A>G (p.Thr409=)
|
rs111806046
|
|
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_000080.4(CHRNE):c.1242C>A (p.Gly414=)
|
rs370770111
|
|
NM_000080.4(CHRNE):c.132G>A (p.Glu44=)
|
rs2151098887
|
|
NM_000080.4(CHRNE):c.1402G>C (p.Val468Leu)
|
rs139171143
|
|
NM_000080.4(CHRNE):c.802+9T>C
|
rs199876621
|
|
NM_000091.5(COL4A3):c.1368T>C (p.Tyr456=)
|
rs766591906
|
|
NM_000091.5(COL4A3):c.1887G>A (p.Thr629=)
|
rs201109911
|
|
NM_000091.5(COL4A3):c.2184G>A (p.Glu728=)
|
rs779837475
|
|
NM_000091.5(COL4A3):c.222G>A (p.Pro74=)
|
rs187950806
|
|
NM_000091.5(COL4A3):c.3825C>T (p.His1275=)
|
rs143380907
|
|
NM_000091.5(COL4A3):c.567T>A (p.Gly189=)
|
rs2125924539
|
|
NM_000092.5(COL4A4):c.2922T>C (p.Pro974=)
|
rs762735176
|
|
NM_000092.5(COL4A4):c.3018A>T (p.Arg1006Ser)
|
rs531161419
|
|
NM_000092.5(COL4A4):c.3974-12dup
|
rs200823182
|
|
NM_000092.5(COL4A4):c.4760C>G (p.Pro1587Arg)
|
rs190148408
|
|
NM_000092.5(COL4A4):c.4809+7dup
|
rs759784585
|
|
NM_000092.5(COL4A4):c.736-4del
|
rs750699545
|
|
NM_000094.4(COL7A1):c.1032G>C (p.Leu344=)
|
rs946311662
|
|
NM_000094.4(COL7A1):c.2050+8C>A
|
rs200654405
|
|
NM_000094.4(COL7A1):c.2553C>A (p.Arg851=)
|
rs577279100
|
|
NM_000094.4(COL7A1):c.2634C>T (p.Arg878=)
|
rs201412774
|
|
NM_000094.4(COL7A1):c.2817A>T (p.Pro939=)
|
rs1264194
|
|
NM_000094.4(COL7A1):c.291T>C (p.Leu97=)
|
rs2107802175
|
|
NM_000094.4(COL7A1):c.4968G>A (p.Glu1656=)
|
rs779192809
|
|
NM_000094.4(COL7A1):c.5058C>T (p.Ser1686=)
|
rs144700737
|
|
NM_000094.4(COL7A1):c.7080G>A (p.Gly2360=)
|
rs768904830
|
|
NM_000094.4(COL7A1):c.7191C>T (p.Pro2397=)
|
rs34360255
|
|
NM_000094.4(COL7A1):c.8010G>T (p.Ser2670=)
|
rs557077483
|
|
NM_000094.4(COL7A1):c.8539C>T (p.Pro2847Ser)
|
rs140041143
|
|
NM_000098.3(CPT2):c.1234G>T (p.Val412Leu)
|
rs575447822
|
|
NM_000098.3(CPT2):c.577C>T (p.Arg193Cys)
|
rs375968699
|
|
NM_000101.4(CYBA):c.468G>C (p.Pro156=)
|
rs964575579
|
|
NM_000103.4(CYP19A1):c.1458C>T (p.Asn486=)
|
rs1380261840
|
|
NM_000108.5(DLD):c.439-6G>C
|
rs369208046
|
|
NM_000112.4(SLC26A2):c.105A>T (p.Ser35=)
|
rs765269781
|
|
NM_000112.4(SLC26A2):c.132C>G (p.Thr44=)
|
rs1202182617
|
|
NM_000112.4(SLC26A2):c.750T>C (p.Asp250=)
|
rs1180284436
|
|
NM_000126.4(ETFA):c.702A>G (p.Leu234=)
|
rs775620228
|
|
NM_000128.4(F11):c.1518T>C (p.Asp506=)
|
rs367580331
|
|
NM_000133.4(F9):c.507C>G (p.Ser169=)
|
rs565055999
|
|
NM_000133.4(F9):c.7C>T (p.Arg3Cys)
|
rs766259893
|
|
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_000137.4(FAH):c.249G>A (p.Val83=)
|
rs370095143
|
|
NM_000137.4(FAH):c.455+9T>C
|
rs531129429
|
|
NM_000143.4(FH):c.105G>C (p.Ser35=)
|
rs181655698
|
|
NM_000143.4(FH):c.1237-14_1237-9dup
|
rs779985493
|
|
NM_000151.4(G6PC1):c.765C>T (p.Thr255=)
|
rs1555560144
|
|
NM_000151.4(G6PC1):c.954C>T (p.Val318=)
|
rs372612424
|
|
NM_000152.5(GAA):c.1377C>T (p.Asp459=)
|
rs778121058
|
|
NM_000152.5(GAA):c.1536C>T (p.Phe512=)
|
rs143491365
|
|
NM_000152.5(GAA):c.18G>A (p.Pro6=)
|
rs774703637
|
|
NM_000152.5(GAA):c.1935C>T (p.Asp645=)
|
rs28940868
|
|
NM_000152.5(GAA):c.2215A>T (p.Thr739Ser)
|
rs578245757
|
|
NM_000152.5(GAA):c.2451C>T (p.His817=)
|
rs753382861
|
|
NM_000152.5(GAA):c.858+17_858+23del
|
rs1555599723
|
|
NM_000153.4(GALC):c.117C>G (p.Pro39=)
|
rs962360205
|
|
NM_000153.4(GALC):c.144C>T (p.Ser48=)
|
rs764548631
|
|
NM_000154.2(GALK1):c.363C>A (p.Pro121=)
|
rs779234943
|
|
NM_000155.4(GALT):c.414G>A (p.Thr138=)
|
rs116479817
|
|
NM_000155.4(GALT):c.414G>T (p.Thr138=)
|
rs116479817
|
|
NM_000155.4(GALT):c.480G>A (p.Glu160=)
|
rs1587238612
|
|
NM_000157.4(GBA1):c.1347G>C (p.Thr449=)
|
rs750193229
|
|
NM_000158.4(GBE1):c.969T>C (p.Asp323=)
|
rs555689284
|
|
NM_000159.4(GCDH):c.51G>A (p.Leu17=)
|
rs772706462
|
|
NM_000159.4(GCDH):c.84G>A (p.Ala28=)
|
rs751454066
|
|
NM_000170.3(GLDC):c.1167G>C (p.Ala389=)
|
rs199901045
|
|
NM_000170.3(GLDC):c.1262-4G>A
|
rs549797631
|
|
NM_000170.3(GLDC):c.1554G>C (p.Pro518=)
|
rs377219563
|
|
NM_000170.3(GLDC):c.190G>A (p.Ala64Thr)
|
rs141601131
|
|
NM_000170.3(GLDC):c.1927-4G>A
|
rs576723612
|
|
NM_000170.3(GLDC):c.2316-13_2316-12dup
|
rs3215923
|
|
NM_000170.3(GLDC):c.66G>C (p.Leu22=)
|
rs1337924090
|
|
NM_000170.3(GLDC):c.66G>T (p.Leu22=)
|
rs1337924090
|
|
NM_000170.3(GLDC):c.81G>A (p.Gly27=)
|
rs1457809070
|
|
NM_000182.5(HADHA):c.1971G>A (p.Ala657=)
|
rs570854524
|
|
NM_000182.5(HADHA):c.2220T>C (p.Tyr740=)
|
rs142120825
|
|
NM_000195.5(HPS1):c.1531C>A (p.Arg511=)
|
rs147748659
|
|
NM_000195.5(HPS1):c.198G>C (p.Ser66=)
|
rs115265574
|
|
NM_000195.5(HPS1):c.847G>A (p.Gly283Arg)
|
rs11592273
|
|
NM_000198.4(HSD3B2):c.1014G>A (p.Ala338=)
|
rs116342586
|
|
NM_000198.4(HSD3B2):c.1056C>G (p.Thr352=)
|
rs781770416
|
|
NM_000198.4(HSD3B2):c.465G>A (p.Pro155=)
|
rs114527791
|
|
NM_000198.4(HSD3B2):c.51G>A (p.Arg17=)
|
rs757957605
|
|
NM_000198.4(HSD3B2):c.867G>C (p.Leu289=)
|
rs1292390178
|
|
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_000235.4(LIPA):c.428+8T>G
|
rs554238064
|
|
NM_000237.3(LPL):c.213C>G (p.His71Gln)
|
rs11542065
|
|
NM_000237.3(LPL):c.72G>C (p.Gly24=)
|
rs1175832133
|
|
NM_000237.3(LPL):c.744T>C (p.Ala248=)
|
rs757675785
|
|
NM_000243.3(MEFV):c.1318C>G (p.Gln440Glu)
|
rs11466026
|
|
NM_000243.3(MEFV):c.1764G>T (p.Pro588=)
|
rs1231122
|
|
NM_000243.3(MEFV):c.1818C>T (p.Thr606=)
|
rs104895213
|
|
NM_000243.3(MEFV):c.342G>A (p.Lys114=)
|
rs981883034
|
|
NM_000243.3(MEFV):c.564C>T (p.Pro188=)
|
rs775755423
|
|
NM_000243.3(MEFV):c.585G>A (p.Glu195=)
|
rs200766991
|
|
NM_000243.3(MEFV):c.586G>T (p.Gly196Trp)
|
rs104895179
|
|
NM_000246.4(CIITA):c.1044G>C (p.Thr348=)
|
rs140683241
|
|
NM_000246.4(CIITA):c.1416G>T (p.Leu472=)
|
rs757999354
|
|
NM_000246.4(CIITA):c.1431C>G (p.Leu477=)
|
rs756459269
|
|
NM_000246.4(CIITA):c.1557G>A (p.Pro519=)
|
rs924677218
|
|
NM_000246.4(CIITA):c.1758G>A (p.Gly586=)
|
rs1596552734
|
|
NM_000246.4(CIITA):c.1803G>C (p.Arg601=)
|
rs758215284
|
|
NM_000246.4(CIITA):c.1878G>A (p.Glu626=)
|
rs1310021692
|
|
NM_000246.4(CIITA):c.2179G>C (p.Glu727Gln)
|
rs548646642
|
|
NM_000246.4(CIITA):c.2322C>A (p.Leu774=)
|
rs77072504
|
|
NM_000246.4(CIITA):c.3123G>T (p.Ser1041=)
|
rs138925894
|
|
NM_000246.4(CIITA):c.531C>T (p.Ser177=)
|
rs188055251
|
|
NM_000246.4(CIITA):c.950C>A (p.Ser317Tyr)
|
rs116253192
|
|
NM_000246.4(CIITA):c.965C>T (p.Pro322Leu)
|
rs74806537
|
|
NM_000252.3(MTM1):c.1054-9_1054-6del
|
rs782691958
|
|
NM_000252.3(MTM1):c.912C>T (p.Ala304=)
|
rs782504569
|
|
NM_000255.4(MMUT):c.1515T>C (p.Ile505=)
|
rs772936850
|
|
NM_000255.4(MMUT):c.651C>A (p.Ile217=)
|
rs1581834838
|
|
NM_000255.4(MMUT):c.754-17dup
|
rs750770186
|
|
NM_000255.4(MMUT):c.754-7del
|
rs750770186
|
|
NM_000260.4(MYO7A):c.1868G>A (p.Arg623His)
|
rs111033416
|
|
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp)
|
rs200454015
|
|
NM_000260.4(MYO7A):c.3396C>T (p.Asp1132=)
|
rs543234546
|
|
NM_000260.4(MYO7A):c.4568+10C>A
|
rs367801483
|
|
NM_000260.4(MYO7A):c.5227C>A (p.Arg1743=)
|
rs111033287
|
|
NM_000260.4(MYO7A):c.5227C>T (p.Arg1743Trp)
|
rs111033287
|
|
NM_000263.4(NAGLU):c.1623G>C (p.Arg541=)
|
rs146438251
|
|
NM_000263.4(NAGLU):c.933C>G (p.Ala311=)
|
rs115888189
|
|
NM_000271.5(NPC1):c.1318C>T (p.Leu440=)
|
rs1390796169
|
|
NM_000271.5(NPC1):c.1947+7_1947+8insCGGG
|
rs1555634618
|
|
NM_000271.5(NPC1):c.1947+9_1947+10insGGAG
|
rs772150994
|
|
NM_000271.5(NPC1):c.2428G>T (p.Val810Phe)
|
rs145362908
|
|
NM_000274.4(OAT):c.1138A>G (p.Ile380Val)
|
rs545710763
|
|
NM_000274.4(OAT):c.1305C>T (p.Thr435=)
|
rs528039246
|
|
NM_000277.3(PAH):c.1134T>C (p.Thr378=)
|
rs1874693005
|
|
NM_000282.4(PCCA):c.18C>T (p.Val6=)
|
rs752423629
|
|
NM_000282.4(PCCA):c.9G>C (p.Gly3=)
|
rs547209141
|
|
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_000288.4(PEX7):c.748-4G>T
|
rs74658757
|
|
NM_000289.6(PFKM):c.1063-6C>G
|
rs371033104
|
|
NM_000289.6(PFKM):c.1192-5T>C
|
rs778432092
|
|
NM_000318.3(PEX2):c.717C>T (p.Thr239=)
|
rs2132043284
|
|
NM_000318.3(PEX2):c.825C>T (p.Asp275=)
|
rs367649632
|
|
NM_000349.3(STAR):c.120G>A (p.Leu40=)
|
rs138786388
|
|
NM_000352.6(ABCC8):c.1716G>T (p.Ser572=)
|
rs750619309
|
|
NM_000352.6(ABCC8):c.2163G>A (p.Ser721=)
|
rs201724038
|
|
NM_000352.6(ABCC8):c.3309G>T (p.Arg1103=)
|
rs1321810156
|
|
NM_000352.6(ABCC8):c.4140C>T (p.Thr1380=)
|
rs574684578
|
|
NM_000352.6(ABCC8):c.4239G>A (p.Pro1413=)
|
rs373478721
|
|
NM_000359.3(TGM1):c.687C>T (p.Asp229=)
|
rs143352384
|
|
NM_000359.3(TGM1):c.78GCCAGA[4] (p.26EP[4])
|
rs762513810
|
|
NM_000360.4(TH):c.1105-5C>G
|
rs535794692
|
|
NM_000360.4(TH):c.1170C>G (p.Ala390=)
|
rs199839852
|
|
NM_000360.4(TH):c.1188C>T (p.Tyr396=)
|
rs375428556
|
|
NM_000360.4(TH):c.576+8G>T
|
rs372753775
|
|
NM_000360.4(TH):c.81G>A (p.Glu27=)
|
rs139742336
|
|
NM_000360.4(TH):c.81G>T (p.Glu27Asp)
|
rs139742336
|
|
NM_000370.3(TTPA):c.36G>T (p.Pro12=)
|
rs773911591
|
|
NM_000383.4(AIRE):c.708C>T (p.Phe236=)
|
rs908180454
|
|
NM_000383.4(AIRE):c.783C>T (p.Ala261=)
|
rs777866382
|
|
NM_000390.4(CHM):c.1920G>A (p.Lys640=)
|
rs748006115
|
|
NM_000390.4(CHM):c.591T>C (p.Ser197=)
|
rs1429958944
|
|
NM_000390.4(CHM):c.6G>T (p.Ala2=)
|
rs773939161
|
|
NM_000397.4(CYBB):c.1032C>G (p.Ser344=)
|
rs782193225
|
|
NM_000397.4(CYBB):c.27G>T (p.Gly9=)
|
rs979166608
|
|
NM_000441.2(SLC26A4):c.2163G>C (p.Thr721=)
|
rs375151702
|
|
NM_000441.2(SLC26A4):c.486C>T (p.Leu162=)
|
rs370020280
|
|
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_000486.6(AQP2):c.768G>C (p.Ser256=)
|
rs771955610
|
|
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_000492.4(CFTR):c.1047G>T (p.Ala349=)
|
rs200520623
|
|
NM_000492.4(CFTR):c.1176A>G (p.Val392=)
|
rs542860881
|
|
NM_000492.4(CFTR):c.1265C>T (p.Ser422Phe)
|
rs201880593
|
|
NM_000492.4(CFTR):c.1353A>G (p.Gly451=)
|
rs1220983447
|
|
NM_000492.4(CFTR):c.1746A>C (p.Thr582=)
|
rs751058333
|
|
NM_000492.4(CFTR):c.1950C>T (p.Phe650=)
|
rs200204024
|
|
NM_000492.4(CFTR):c.2313C>T (p.Asn771=)
|
rs768301278
|
|
NM_000492.4(CFTR):c.2694T>C (p.Ser898=)
|
rs2116061252
|
|
NM_000492.4(CFTR):c.390C>G (p.Leu130=)
|
rs1411911535
|
|
NM_000492.4(CFTR):c.3996T>C (p.Pro1332=)
|
rs2116220796
|
|
NM_000492.4(CFTR):c.927C>T (p.Ala309=)
|
rs1800084
|
|
NM_000498.3(CYP11B2):c.1227G>T (p.Ser409=)
|
rs61757291
|
|
NM_000498.3(CYP11B2):c.768C>T (p.His256=)
|
rs748615718
|
|
NM_000518.4(HBB):c.157G>A (p.Asp53Asn)
|
rs33961886
|
|
NM_000518.5(HBB):c.-10_-7del
|
rs34196559
|
|
NM_000518.5(HBB):c.246C>G (p.Leu82=)
|
rs145669504
|
|
NM_000520.6(HEXA):c.13A>C (p.Arg5=)
|
rs1595816387
|
|
NM_000520.6(HEXA):c.51A>C (p.Ala17=)
|
rs2140344816
|
|
NM_000525.4(KCNJ11):c.309C>T (p.Ser103=)
|
rs376773562
|
|
NM_000527.5(LDLR):c.1026C>T (p.Asp342=)
|
rs780563386
|
|
NM_000527.5(LDLR):c.1083C>T (p.Pro361=)
|
rs567564778
|
|
NM_000527.5(LDLR):c.1706-10G>A
|
|
|
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
|
|
|
NM_000527.5(LDLR):c.2289G>T (p.Glu763Asp)
|
rs774698247
|
|
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile)
|
rs137853964
|
|
NM_000527.5(LDLR):c.2496A>G (p.Thr832=)
|
rs1600765476
|
|
NM_000527.5(LDLR):c.2547+9C>T
|
rs746674813
|
|
NM_000527.5(LDLR):c.694+25C>T
|
|
|
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
|
|
|
NM_000527.5(LDLR):c.769C>T (p.Arg257Trp)
|
|
|
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)
|
|
|
NM_000527.5(LDLR):c.817+9T>C
|
|
|
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
|
|
|
NM_000527.5(LDLR):c.940+9C>T
|
|
|
NM_000527.5(LDLR):c.941-39C>T
|
|
|
NM_000527.5(LDLR):c.941-4G>A
|
|
|
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
|
|
|
NM_000528.4(MAN2B1):c.1167C>T (p.Thr389=)
|
rs762375074
|
|
NM_000528.4(MAN2B1):c.1383C>T (p.Tyr461=)
|
rs775200333
|
|
NM_000531.6(OTC):c.762G>A (p.Ala254=)
|
rs1388386866
|
|
NM_000532.5(PCCB):c.141G>A (p.Leu47=)
|
rs1378807952
|
|
NM_000536.4(RAG2):c.1391G>A (p.Arg464His)
|
rs147748696
|
|
NM_000543.5(SMPD1):c.107_112del (p.Val36_Leu37del)
|
rs775860642
|
|
NM_000543.5(SMPD1):c.107_124del (p.Val36_Leu41del)
|
rs794726889
|
|
NM_000543.5(SMPD1):c.108GCTGGC[8] (p.38AL[8])
|
rs3838786
|
|
NM_000543.5(SMPD1):c.108_109insGCGCTGGCG (p.Val36_Leu37insAlaLeuAla)
|
rs775568984
|
|
NM_000543.5(SMPD1):c.348C>T (p.Ser116=)
|
rs767122852
|
|
NM_000543.5(SMPD1):c.567A>G (p.Lys189=)
|
rs750187574
|
|
NM_000558.3(HBA1):c.349G>A (p.Glu117Lys)
|
rs63749882
|
|
NM_000642.3(AGL):c.2497C>A (p.Gln833Lys)
|
rs757870729
|
|
NM_000709.4(BCKDHA):c.115C>T (p.Pro39Ser)
|
rs750739703
|
|
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser)
|
rs72551323
|
|
NM_000784.4(CYP27A1):c.1500C>T (p.Val500=)
|
rs1268917075
|
|
NM_000784.4(CYP27A1):c.393G>A (p.Glu131=)
|
rs911534514
|
|
NM_000784.4(CYP27A1):c.735G>T (p.Gly245=)
|
rs770631614
|
|
NM_001003722.2(GLE1):c.384G>A (p.Val128=)
|
rs768968019
|
|
NM_001003722.2(GLE1):c.946C>A (p.Arg316=)
|
rs749236753
|
|
NM_001017420.3(ESCO2):c.1470G>A (p.Gly490=)
|
rs554005632
|
|
NM_001017420.3(ESCO2):c.1747T>C (p.Leu583=)
|
rs1585413228
|
|
NM_001017420.3(ESCO2):c.405G>A (p.Lys135=)
|
rs767762209
|
|
NM_001017420.3(ESCO2):c.765T>C (p.Phe255=)
|
rs780741900
|
|
NM_001017420.3(ESCO2):c.768G>A (p.Ala256=)
|
rs372611248
|
|
NM_001033855.3(DCLRE1C):c.1455T>C (p.Asp485=)
|
rs747435874
|
|
NM_001033855.3(DCLRE1C):c.1743A>G (p.Thr581=)
|
rs750453725
|
|
NM_001033855.3(DCLRE1C):c.330C>T (p.Leu110=)
|
rs768414966
|
|
NM_001033855.3(DCLRE1C):c.594G>A (p.Pro198=)
|
rs138120763
|
|
NM_001039958.2(MESP2):c.1122C>A (p.Gly374=)
|
rs765218369
|
|
NM_001039958.2(MESP2):c.237G>C (p.Ala79=)
|
rs775834437
|
|
NM_001039958.2(MESP2):c.237G>T (p.Ala79=)
|
rs775834437
|
|
NM_001039958.2(MESP2):c.498C>A (p.Pro166=)
|
rs200336355
|
|
NM_001039958.2(MESP2):c.693C>T (p.Ala231=)
|
rs901621478
|
|
NM_001039958.2(MESP2):c.966T>G (p.Ala322=)
|
rs768285654
|
|
NM_001042432.2(CLN3):c.537C>G (p.Ala179=)
|
rs147667964
|
|
NM_001079802.2(FKTN):c.1023G>T (p.Pro341=)
|
rs146967918
|
|
NM_001079802.2(FKTN):c.766C>A (p.Arg256=)
|
rs377417974
|
|
NM_001122769.3(LCA5):c.1242A>G (p.Arg414=)
|
rs1769717155
|
|
NM_001122769.3(LCA5):c.1769A>G (p.Asp590Gly)
|
rs771460783
|
|
NM_001122769.3(LCA5):c.1785T>A (p.Ile595=)
|
rs544388502
|
|
NM_001122769.3(LCA5):c.642C>T (p.His214=)
|
rs541395332
|
|
NM_001122769.3(LCA5):c.735C>T (p.Asn245=)
|
rs781334192
|
|
NM_001122769.3(LCA5):c.759C>T (p.Phe253=)
|
rs528612334
|
|
NM_001126108.2(SLC12A3):c.2076C>T (p.Ile692=)
|
rs780880719
|
|
NM_001126108.2(SLC12A3):c.2285+10_2285+12del
|
rs562443353
|
|
NM_001127671.2(LIFR):c.1245G>A (p.Pro415=)
|
rs139809889
|
|
NM_001127671.2(LIFR):c.1365A>G (p.Leu455=)
|
rs1204654428
|
|
NM_001127671.2(LIFR):c.143-5_143-3del
|
rs778581246
|
|
NM_001127671.2(LIFR):c.3288C>A (p.Asn1096Lys)
|
rs3729751
|
|
NM_001130987.2(DYSF):c.1518C>A (p.Ile506=)
|
rs34387018
|
|
NM_001130987.2(DYSF):c.1944G>T (p.Pro648=)
|
rs115849497
|
|
NM_001130987.2(DYSF):c.3501G>A (p.Gly1167=)
|
rs138317526
|
|
NM_001130987.2(DYSF):c.3552G>A (p.Ala1184=)
|
rs201319864
|
|
NM_001130987.2(DYSF):c.3678C>G (p.Ile1226Met)
|
rs148858485
|
|
NM_001130987.2(DYSF):c.3678C>T (p.Ile1226=)
|
rs148858485
|
|
NM_001130987.2(DYSF):c.408C>T (p.Pro136=)
|
rs1182440042
|
|
NM_001130987.2(DYSF):c.4452C>T (p.Leu1484=)
|
rs1476328093
|
|
NM_001130987.2(DYSF):c.4461C>T (p.Ile1487=)
|
rs751456837
|
|
NM_001130987.2(DYSF):c.4983G>T (p.Thr1661=)
|
rs142301132
|
|
NM_001130987.2(DYSF):c.4984C>T (p.Leu1662=)
|
rs963646326
|
|
NM_001130987.2(DYSF):c.5174+8G>A
|
rs1573054048
|
|
NM_001130987.2(DYSF):c.852G>A (p.Thr284=)
|
rs1454893867
|
|
NM_001134793.2(HYLS1):c.675A>G (p.Ser225=)
|
rs763523610
|
|
NM_001142800.2(EYS):c.3126C>T (p.Asn1042=)
|
rs368790430
|
|
NM_001142800.2(EYS):c.3417T>C (p.Asp1139=)
|
rs1238692406
|
|
NM_001142800.2(EYS):c.6444A>G (p.Pro2148=)
|
rs556671009
|
|
NM_001142800.2(EYS):c.7369C>T (p.Leu2457=)
|
rs551500915
|
|
NM_001164277.2(SLC37A4):c.723C>T (p.Thr241=)
|
rs782547500
|
|
NM_001164508.2(NEB):c.10591T>C (p.Leu3531=)
|
rs2098336175
|
|
NM_001164508.2(NEB):c.12426C>T (p.Leu4142=)
|
rs1320574868
|
|
NM_001164508.2(NEB):c.12474C>T (p.Thr4158=)
|
rs1579059705
|
|
NM_001164508.2(NEB):c.12483C>T (p.Val4161=)
|
rs876657539
|
|
NM_001164508.2(NEB):c.12720C>T (p.Ala4240=)
|
rs1579015882
|
|
NM_001164508.2(NEB):c.13105C>T (p.Leu4369=)
|
rs147579763
|
|
NM_001164508.2(NEB):c.1314C>T (p.Phe438=)
|
rs765769921
|
|
NM_001164508.2(NEB):c.13185T>C (p.Pro4395=)
|
rs1344892267
|
|
NM_001164508.2(NEB):c.13276G>A (p.Asp4426Asn)
|
rs876657540
|
|
NM_001164508.2(NEB):c.13317T>C (p.Ala4439=)
|
rs1578873204
|
|
NM_001164508.2(NEB):c.13533C>T (p.Ser4511=)
|
rs1168966918
|
|
NM_001164508.2(NEB):c.13548T>G (p.Pro4516=)
|
rs1578803539
|
|
NM_001164508.2(NEB):c.13626C>G (p.Ala4542=)
|
rs201225445
|
|
NM_001164508.2(NEB):c.13737C>T (p.Pro4579=)
|
rs1578801445
|
|
NM_001164508.2(NEB):c.153_167dup (p.52LAQPA[3])
|
rs757726895
|
|
NM_001164508.2(NEB):c.168A>G (p.Ala56=)
|
rs200297299
|
|
NM_001164508.2(NEB):c.17049G>A (p.Ala5683=)
|
rs140688592
|
|
NM_001164508.2(NEB):c.18064A>G (p.Ile6022Val)
|
rs574746662
|
|
NM_001164508.2(NEB):c.18852T>C (p.Asn6284=)
|
rs1362922636
|
|
NM_001164508.2(NEB):c.25236A>G (p.Ser8412=)
|
rs1574544943
|
|
NM_001164508.2(NEB):c.5055C>A (p.Thr1685=)
|
rs1575578013
|
|
NM_001164508.2(NEB):c.7831T>C (p.Leu2611=)
|
rs772164378
|
|
NM_001164508.2(NEB):c.9467T>A (p.Ile3156Asn)
|
rs145770770
|
|
NM_001174089.2(SLC4A11):c.2184C>T (p.Ile728=)
|
rs1600561128
|
|
NM_001174089.2(SLC4A11):c.2232C>T (p.Gly744=)
|
rs758751670
|
|
NM_001174089.2(SLC4A11):c.882C>T (p.His294=)
|
rs973038358
|
|
NM_001201543.2(FAM161A):c.177G>A (p.Gly59=)
|
rs752470299
|
|
NM_001243279.3(ACSF3):c.1074C>T (p.Thr358=)
|
rs374451559
|
|
NM_001243279.3(ACSF3):c.1224C>T (p.Asp408=)
|
rs1047268029
|
|
NM_001243279.3(ACSF3):c.342G>A (p.Ala114=)
|
rs6500527
|
|
NM_001243279.3(ACSF3):c.579G>A (p.Arg193=)
|
rs528237336
|
|
NM_001243279.3(ACSF3):c.729G>A (p.Pro243=)
|
rs768799062
|
|
NM_001283009.2(RTEL1):c.1302G>A (p.Thr434=)
|
rs200709485
|
|
NM_001283009.2(RTEL1):c.2229A>G (p.Arg743=)
|
rs1601170877
|
|
NM_001283009.2(RTEL1):c.228G>A (p.Ala76=)
|
rs116624637
|
|
NM_001283009.2(RTEL1):c.2370G>A (p.Lys790=)
|
rs553827008
|
|
NM_001283009.2(RTEL1):c.2662G>C (p.Val888Leu)
|
rs200505378
|
|
NM_001283009.2(RTEL1):c.2799C>T (p.Ala933=)
|
rs929062749
|
|
NM_001283009.2(RTEL1):c.2832G>A (p.Lys944=)
|
rs147040733
|
|
NM_001283009.2(RTEL1):c.2871G>A (p.Arg957=)
|
rs1282351226
|
|
NM_001283009.2(RTEL1):c.2937G>C (p.Arg979=)
|
rs768689934
|
|
NM_001283009.2(RTEL1):c.2975C>T (p.Pro992Leu)
|
rs143967591
|
|
NM_001283009.2(RTEL1):c.2993-8_2993-6del
|
rs761735369
|
|
NM_001283009.2(RTEL1):c.3295T>C (p.Leu1099=)
|
rs771667984
|
|
NM_001283009.2(RTEL1):c.3303C>G (p.Ala1101=)
|
rs776426684
|
|
NM_001283009.2(RTEL1):c.3412C>A (p.Arg1138=)
|
rs6062495
|
|
NM_001283009.2(RTEL1):c.594C>G (p.Val198=)
|
rs774564498
|
|
NM_001283009.2(RTEL1):c.675G>T (p.Pro225=)
|
rs762854518
|
|
NM_001352514.2(HLCS):c.1621-13_1621-10del
|
rs377641674
|
|
NM_001352514.2(HLCS):c.804G>A (p.Lys268=)
|
rs1228716242
|
|
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_001365088.1(SLC12A6):c.1632G>A (p.Gly544=)
|
rs538172969
|
|
NM_001365088.1(SLC12A6):c.317-5del
|
rs747243268
|
|
NM_001369.3(DNAH5):c.1090-8T>C
|
rs16902950
|
|
NM_001369.3(DNAH5):c.11815C>T (p.Leu3939=)
|
rs764968328
|
|
NM_001369.3(DNAH5):c.12384C>T (p.Leu4128=)
|
rs772828833
|
|
NM_001369.3(DNAH5):c.12765C>T (p.Val4255=)
|
rs561983296
|
|
NM_001369.3(DNAH5):c.13095G>A (p.Glu4365=)
|
rs372604448
|
|
NM_001369.3(DNAH5):c.13569C>T (p.Asp4523=)
|
rs151080414
|
|
NM_001369.3(DNAH5):c.159C>T (p.Thr53=)
|
rs773322142
|
|
NM_001369.3(DNAH5):c.1602C>T (p.Asp534=)
|
rs753367747
|
|
NM_001369.3(DNAH5):c.1647C>T (p.Asn549=)
|
rs139160176
|
|
NM_001369.3(DNAH5):c.5272-9C>T
|
rs555481241
|
|
NM_001369.3(DNAH5):c.7335C>T (p.Tyr2445=)
|
rs2127026828
|
|
NM_001369.3(DNAH5):c.8316A>G (p.Arg2772=)
|
rs751595453
|
|
NM_001371596.2(MFSD8):c.1351-9C>A
|
rs75039907
|
|
NM_001371596.2(MFSD8):c.63-4del
|
rs755011754
|
|
NM_001378454.1(ALMS1):c.10774A>C (p.Thr3592Pro)
|
rs200467041
|
|
NM_001378454.1(ALMS1):c.11820C>G (p.Thr3940=)
|
rs565546868
|
|
NM_001378454.1(ALMS1):c.11820C>T (p.Thr3940=)
|
rs565546868
|
|
NM_001378454.1(ALMS1):c.1602T>G (p.Thr534=)
|
rs757654976
|
|
NM_001378454.1(ALMS1):c.5453G>T (p.Arg1818Leu)
|
rs200925575
|
|
NM_001378454.1(ALMS1):c.5673A>T (p.Ala1891=)
|
rs1572936907
|
|
NM_001378454.1(ALMS1):c.5828G>A (p.Arg1943His)
|
rs146669152
|
|
NM_001378454.1(ALMS1):c.7473C>T (p.Ser2491=)
|
rs1572938980
|
|
NM_001378454.1(ALMS1):c.7839C>T (p.Thr2613=)
|
rs746168704
|
|
NM_001378454.1(ALMS1):c.8472C>T (p.Pro2824=)
|
rs1467835066
|
|
NM_001378454.1(ALMS1):c.8556C>T (p.Ser2852=)
|
rs201560634
|
|
NM_001378454.1(ALMS1):c.8562A>G (p.Leu2854=)
|
rs2103892303
|
|
NM_001378454.1(ALMS1):c.9678A>G (p.Gly3226=)
|
rs1175450599
|
|
NM_001378454.1(ALMS1):c.9843A>G (p.Gln3281=)
|
rs1573000980
|
|
NM_001378454.1(ALMS1):c.996T>C (p.Ile332=)
|
rs760947833
|
|
NM_001384140.1(PCDH15):c.297C>G (p.Thr99=)
|
rs762026724
|
|
NM_001384140.1(PCDH15):c.3450C>T (p.Ile1150=)
|
rs146374856
|
|
NM_001384140.1(PCDH15):c.4308G>T (p.Pro1436=)
|
rs1160719926
|
|
NM_001384140.1(PCDH15):c.4308GCC[7] (p.Pro1442_Pro1443dup)
|
rs559130985
|
|
NM_001384474.1(LOXHD1):c.2766G>A (p.Lys922=)
|
rs552637512
|
|
NM_001384474.1(LOXHD1):c.2874_2891dup (p.Ser960_Ser965dup)
|
rs759237437
|
|
NM_001386140.1(MTTP):c.2340T>C (p.Asn780=)
|
rs1578257346
|
|
NM_001399.5(EDA):c.354G>C (p.Pro118=)
|
rs762842929
|
|
NM_001673.5(ASNS):c.1626C>T (p.Ile542=)
|
rs1584455597
|
|
NM_001673.5(ASNS):c.591A>C (p.Ala197=)
|
rs141969298
|
|
NM_001875.5(CPS1):c.2709C>A (p.Thr903=)
|
rs774243804
|
|
NM_001875.5(CPS1):c.334C>T (p.Leu112=)
|
rs149675371
|
|
NM_001875.5(CPS1):c.3465G>A (p.Ala1155=)
|
rs772806744
|
|
NM_001876.4(CPT1A):c.1459-6dup
|
rs767372374
|
|
NM_001876.4(CPT1A):c.309C>T (p.Asn103=)
|
rs200536266
|
|
NM_001953.5(TYMP):c.910G>A (p.Asp304Asn)
|
rs570438867
|
|
NM_002076.4(GNS):c.132C>G (p.Thr44=)
|
rs1592514574
|
|
NM_002454.3(MTRR):c.1932C>T (p.Asn644=)
|
rs374659219
|
|
NM_002454.3(MTRR):c.2016T>C (p.Val672=)
|
rs1162603124
|
|
NM_002454.3(MTRR):c.993G>C (p.Leu331=)
|
rs777698463
|
|
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_002529.4(NTRK1):c.102A>G (p.Ala34=)
|
rs2102879190
|
|
NM_002529.4(NTRK1):c.1080G>T (p.Thr360=)
|
rs2274498
|
|
NM_002529.4(NTRK1):c.1395C>T (p.Ser465=)
|
rs1311708647
|
|
NM_002529.4(NTRK1):c.618T>C (p.Asp206=)
|
rs1571690231
|
|
NM_002529.4(NTRK1):c.792G>A (p.Thr264=)
|
rs201110800
|
|
NM_002617.4(PEX10):c.819C>T (p.Cys273=)
|
rs1570098961
|
|
NM_002778.4(PSAP):c.1138C>T (p.Leu380=)
|
rs751199102
|
|
NM_002778.4(PSAP):c.570G>A (p.Gln190=)
|
rs142272618
|
|
NM_003060.4(SLC22A5):c.1080G>C (p.Gly360=)
|
rs139508856
|
|
NM_003060.4(SLC22A5):c.1437C>T (p.Tyr479=)
|
rs761305616
|
|
NM_003227.4(TFR2):c.123G>C (p.Gly41=)
|
rs779980249
|
|
NM_003227.4(TFR2):c.1605+10C>G
|
rs577722163
|
|
NM_003227.4(TFR2):c.1767+7C>G
|
rs41295912
|
|
NM_003384.3(VRK1):c.690C>T (p.Ile230=)
|
rs747694940
|
|
NM_003640.5(ELP1):c.-17G>A
|
rs199738099
|
|
NM_003640.5(ELP1):c.1563G>A (p.Glu521=)
|
rs969266362
|
|
NM_003640.5(ELP1):c.1957T>C (p.Leu653=)
|
rs542412132
|
|
NM_003640.5(ELP1):c.209G>A (p.Arg70His)
|
rs111936933
|
|
NM_003640.5(ELP1):c.2359T>C (p.Leu787=)
|
rs931451775
|
|
NM_003640.5(ELP1):c.2826A>T (p.Arg942=)
|
rs780726202
|
|
NM_003640.5(ELP1):c.3069G>A (p.Leu1023=)
|
rs1063110
|
|
NM_003640.5(ELP1):c.3441A>G (p.Gln1147=)
|
rs779796058
|
|
NM_003640.5(ELP1):c.3711C>T (p.Tyr1237=)
|
rs1564070677
|
|
NM_003640.5(ELP1):c.3855+9T>G
|
rs533673443
|
|
NM_003640.5(ELP1):c.3975G>A (p.Gln1325=)
|
rs1235352918
|
|
NM_003640.5(ELP1):c.650-6G>A
|
rs571466270
|
|
NM_003640.5(ELP1):c.78C>T (p.Leu26=)
|
rs1164162179
|
|
NM_003659.4(AGPS):c.1536A>T (p.Ala512=)
|
rs1036071531
|
|
NM_003659.4(AGPS):c.72C>T (p.Asp24=)
|
rs923081006
|
|
NM_003742.4(ABCB11):c.1124A>G (p.Asn375Ser)
|
rs572222881
|
|
NM_003742.4(ABCB11):c.2298G>A (p.Gly766=)
|
rs200087122
|
|
NM_003742.4(ABCB11):c.896G>A (p.Arg299Lys)
|
rs2287617
|
|
NM_003982.4(SLC7A7):c.144G>C (p.Gly48=)
|
rs1298784269
|
|
NM_004004.6(GJB2):c.108C>T (p.Leu36=)
|
rs138547875
|
|
NM_004006.3(DMD):c.10308C>T (p.Arg3436=)
|
rs780389106
|
|
NM_004006.3(DMD):c.10830G>A (p.Thr3610=)
|
rs113604000
|
|
NM_004006.3(DMD):c.1084T>C (p.Leu362=)
|
rs1556876311
|
|
NM_004006.3(DMD):c.11015-6_11015-4del
|
rs748344570
|
|
NM_004006.3(DMD):c.11047-11_11047-10del
|
rs751483072
|
|
NM_004006.3(DMD):c.1131C>G (p.Asp377Glu)
|
rs747305466
|
|
NM_004006.3(DMD):c.1176T>C (p.His392=)
|
rs1057521572
|
|
NM_004006.3(DMD):c.1254T>G (p.Thr418=)
|
rs777002544
|
|
NM_004006.3(DMD):c.1311T>G (p.Ala437=)
|
rs398123855
|
|
NM_004006.3(DMD):c.1378T>C (p.Leu460=)
|
rs746640758
|
|
NM_004006.3(DMD):c.1869C>G (p.Leu623=)
|
rs1800267
|
|
NM_004006.3(DMD):c.1911C>A (p.Thr637=)
|
rs928561454
|
|
NM_004006.3(DMD):c.1965C>A (p.Val655=)
|
rs1255068879
|
|
NM_004006.3(DMD):c.1983T>C (p.Ser661=)
|
rs1603636536
|
|
NM_004006.3(DMD):c.2173G>T (p.Asp725Tyr)
|
rs398123879
|
|
NM_004006.3(DMD):c.2273A>C (p.Asp758Ala)
|
rs750526692
|
|
NM_004006.3(DMD):c.2331G>C (p.Leu777=)
|
rs369659071
|
|
NM_004006.3(DMD):c.2331G>T (p.Leu777=)
|
rs369659071
|
|
NM_004006.3(DMD):c.2400C>T (p.Ser800=)
|
rs142115986
|
|
NM_004006.3(DMD):c.2508T>C (p.Tyr836=)
|
rs886044674
|
|
NM_004006.3(DMD):c.265-9_265-6del
|
rs780278315
|
|
NM_004006.3(DMD):c.2667A>G (p.Arg889=)
|
rs759593799
|
|
NM_004006.3(DMD):c.2745A>G (p.Thr915=)
|
rs149922633
|
|
NM_004006.3(DMD):c.2804-6A>G
|
rs1305291348
|
|
NM_004006.3(DMD):c.2815T>C (p.Leu939=)
|
rs1603634302
|
|
NM_004006.3(DMD):c.3080G>C (p.Gly1027Ala)
|
rs370171367
|
|
NM_004006.3(DMD):c.3177C>G (p.Thr1059=)
|
rs755632126
|
|
NM_004006.3(DMD):c.333T>C (p.Ile111=)
|
rs138909301
|
|
NM_004006.3(DMD):c.3351T>C (p.Asn1117=)
|
rs2148419029
|
|
NM_004006.3(DMD):c.3375G>C (p.Ser1125=)
|
rs191164314
|
|
NM_004006.3(DMD):c.3678T>G (p.Ala1226=)
|
rs767458058
|
|
NM_004006.3(DMD):c.3696A>C (p.Ala1232=)
|
rs369971712
|
|
NM_004006.3(DMD):c.3696A>G (p.Ala1232=)
|
rs369971712
|
|
NM_004006.3(DMD):c.3988C>T (p.Leu1330=)
|
rs1557357523
|
|
NM_004006.3(DMD):c.4090T>C (p.Leu1364=)
|
rs1252905257
|
|
NM_004006.3(DMD):c.4090T>G (p.Leu1364Val)
|
rs1252905257
|
|
NM_004006.3(DMD):c.4296G>A (p.Gln1432=)
|
rs747262903
|
|
NM_004006.3(DMD):c.4323G>T (p.Leu1441=)
|
rs777712150
|
|
NM_004006.3(DMD):c.468A>C (p.Val156=)
|
rs886044031
|
|
NM_004006.3(DMD):c.4744G>A (p.Val1582Ile)
|
rs398123965
|
|
NM_004006.3(DMD):c.4747T>C (p.Leu1583=)
|
rs1060504673
|
|
NM_004006.3(DMD):c.4953T>C (p.Asp1651=)
|
rs764476153
|
|
NM_004006.3(DMD):c.530+7_530+9del
|
rs750507979
|
|
NM_004006.3(DMD):c.531-11_531-6del
|
rs758404687
|
|
NM_004006.3(DMD):c.5326-11dup
|
rs398123988
|
|
NM_004006.3(DMD):c.5449-12_5449-10del
|
rs745728411
|
|
NM_004006.3(DMD):c.579A>G (p.Thr193=)
|
rs766344083
|
|
NM_004006.3(DMD):c.579A>T (p.Thr193=)
|
rs766344083
|
|
NM_004006.3(DMD):c.582A>G (p.Gln194=)
|
rs1603432096
|
|
NM_004006.3(DMD):c.5933G>A (p.Arg1978His)
|
rs148135406
|
|
NM_004006.3(DMD):c.6291-10T>C
|
rs758023750
|
|
NM_004006.3(DMD):c.6333T>C (p.Tyr2111=)
|
rs2097114793
|
|
NM_004006.3(DMD):c.6375G>T (p.Gln2125His)
|
rs766781970
|
|
NM_004006.3(DMD):c.6405T>C (p.Asn2135=)
|
rs2147865207
|
|
NM_004006.3(DMD):c.6489T>C (p.Asn2163=)
|
rs1057523928
|
|
NM_004006.3(DMD):c.6614+7C>A
|
rs180719577
|
|
NM_004006.3(DMD):c.7018C>T (p.Leu2340=)
|
rs1189846429
|
|
NM_004006.3(DMD):c.7032A>G (p.Leu2344=)
|
rs1556962392
|
|
NM_004006.3(DMD):c.7074C>T (p.Asn2358=)
|
rs1556962301
|
|
NM_004006.3(DMD):c.7179A>T (p.Lys2393Asn)
|
rs202090289
|
|
NM_004006.3(DMD):c.7236G>A (p.Ala2412=)
|
rs149003002
|
|
NM_004006.3(DMD):c.7281A>T (p.Leu2427=)
|
rs886038872
|
|
NM_004006.3(DMD):c.729G>A (p.Val243=)
|
rs182730498
|
|
NM_004006.3(DMD):c.7543-17del
|
rs754422509
|
|
NM_004006.3(DMD):c.7653G>A (p.Thr2551=)
|
rs368803197
|
|
NM_004006.3(DMD):c.7701C>T (p.His2567=)
|
rs1603445347
|
|
NM_004006.3(DMD):c.7712G>A (p.Arg2571Gln)
|
rs371588290
|
|
NM_004006.3(DMD):c.8247A>C (p.Thr2749=)
|
rs1176596333
|
|
NM_004006.3(DMD):c.8322G>T (p.Leu2774=)
|
rs72466575
|
|
NM_004006.3(DMD):c.8348A>G (p.Asn2783Ser)
|
rs760903823
|
|
NM_004006.3(DMD):c.8454G>C (p.Leu2818=)
|
rs2069917714
|
|
NM_004006.3(DMD):c.8532G>A (p.Gln2844=)
|
rs887532907
|
|
NM_004006.3(DMD):c.8547+18C>T
|
rs755142909
|
|
NM_004006.3(DMD):c.8757C>T (p.Asn2919=)
|
rs753234741
|
|
NM_004006.3(DMD):c.8925C>G (p.Leu2975=)
|
rs374063420
|
|
NM_004006.3(DMD):c.8973C>T (p.Asn2991=)
|
rs772306909
|
|
NM_004006.3(DMD):c.923C>T (p.Thr308Ile)
|
rs145064612
|
|
NM_004006.3(DMD):c.9396C>T (p.Ala3132=)
|
rs1556282217
|
|
NM_004006.3(DMD):c.9410A>G (p.Asn3137Ser)
|
rs779737146
|
|
NM_004006.3(DMD):c.9786T>C (p.Ser3262=)
|
rs1052771260
|
|
NM_004006.3(DMD):c.985T>A (p.Ser329Thr)
|
rs756590471
|
|
NM_004035.7(ACOX1):c.1756A>G (p.Thr586Ala)
|
rs533088955
|
|
NM_004035.7(ACOX1):c.945-5C>T
|
rs565971118
|
|
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_004646.4(NPHS1):c.1065G>A (p.Lys355=)
|
rs966140756
|
|
NM_004646.4(NPHS1):c.2746G>T (p.Ala916Ser)
|
rs138173172
|
|
NM_004646.4(NPHS1):c.3249G>C (p.Gly1083=)
|
rs779723501
|
|
NM_004646.4(NPHS1):c.3456G>A (p.Thr1152=)
|
rs138092189
|
|
NM_004937.3(CTNS):c.1029C>T (p.Ile343=)
|
rs147428183
|
|
NM_004937.3(CTNS):c.909C>T (p.Leu303=)
|
rs1252160181
|
|
NM_004937.3(CTNS):c.969C>T (p.Asn323=)
|
rs121908128
|
|
NM_005055.5(RAPSN):c.975G>A (p.Gln325=)
|
rs528431446
|
|
NM_005373.3(MPL):c.408C>G (p.Pro136=)
|
rs146579984
|
|
NM_005629.4(SLC6A8):c.1767+11dup
|
rs1557045747
|
|
NM_005709.4(USH1C):c.1220G>A (p.Gly407Glu)
|
rs143923730
|
|
NM_005726.6(TSFM):c.408G>A (p.Leu136=)
|
rs144109380
|
|
NM_005726.6(TSFM):c.53A>T (p.Tyr18Phe)
|
rs548510701
|
|
NM_005957.5(MTHFR):c.1832A>G (p.Tyr611Cys)
|
rs756615138
|
|
NM_005957.5(MTHFR):c.615G>A (p.Gly205=)
|
rs779138021
|
|
NM_006019.4(TCIRG1):c.1996A>C (p.Arg666=)
|
rs767714758
|
|
NM_006096.4(NDRG1):c.1077_1106dup (p.340TRSRSHTSEG[4])
|
rs1554747463
|
|
NM_006096.4(NDRG1):c.1092G>A (p.Ser364=)
|
rs578199680
|
|
NM_006096.4(NDRG1):c.702G>A (p.Arg234=)
|
rs547082017
|
|
NM_006096.4(NDRG1):c.906T>G (p.Ala302=)
|
rs572270834
|
|
NM_006118.4(HAX1):c.107AAG[4] (p.Glu40del)
|
rs753894148
|
|
NM_006118.4(HAX1):c.18C>G (p.Leu6=)
|
rs375735851
|
|
NM_006118.4(HAX1):c.436G>A (p.Glu146Lys)
|
rs114883767
|
|
NM_006261.5(PROP1):c.609C>T (p.Ala203=)
|
rs751079956
|
|
NM_006261.5(PROP1):c.66G>A (p.Leu22=)
|
rs1582664807
|
|
NM_006493.4(CLN5):c.33C>G (p.Ala11=)
|
rs530381028
|
|
NM_006493.4(CLN5):c.63G>C (p.Arg21=)
|
rs1338752072
|
|
NM_006493.4(CLN5):c.77G>C (p.Trp26Ser)
|
rs764790770
|
|
NM_006623.4(PHGDH):c.1078+10G>T
|
rs374994783
|
|
NM_006623.4(PHGDH):c.1209+9del
|
rs776173839
|
|
NM_006623.4(PHGDH):c.267A>C (p.Thr89=)
|
rs767488641
|
|
NM_006623.4(PHGDH):c.519G>A (p.Gly173=)
|
rs754326499
|
|
NM_007259.5(VPS45):c.1371+9A>T
|
rs368568806
|
|
NM_012144.4(DNAI1):c.447G>A (p.Glu149=)
|
rs1371790403
|
|
NM_012144.4(DNAI1):c.520GAA[2] (p.Glu176del)
|
rs878854967
|
|
NM_012203.2(GRHPR):c.666C>G (p.Thr222=)
|
rs146227450
|
|
NM_013339.4(ALG6):c.448A>G (p.Ile150Val)
|
rs571644669
|
|
NM_014049.5(ACAD9):c.1164G>A (p.Glu388=)
|
rs372572429
|
|
NM_014140.4(SMARCAL1):c.2556T>C (p.Val852=)
|
rs1574485907
|
|
NM_014140.4(SMARCAL1):c.2853G>A (p.Thr951=)
|
rs200632025
|
|
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_014249.4(NR2E3):c.349+12del
|
rs886051451
|
|
NM_014249.4(NR2E3):c.349+7C>T
|
rs900547
|
|
NM_014251.3(SLC25A13):c.306T>C (p.Ala102=)
|
rs565008080
|
|
NM_014297.5(ETHE1):c.372C>T (p.Arg124=)
|
rs1972241147
|
|
NM_014363.6(SACS):c.10227A>G (p.Ser3409=)
|
rs1593123878
|
|
NM_014363.6(SACS):c.10291G>C (p.Val3431Leu)
|
rs144179865
|
|
NM_014363.6(SACS):c.1066A>C (p.Ile356Leu)
|
rs148286091
|
|
NM_014363.6(SACS):c.10731A>C (p.Thr3577=)
|
rs759287298
|
|
NM_014363.6(SACS):c.1332A>G (p.Ala444=)
|
rs1039811925
|
|
NM_014363.6(SACS):c.2904C>T (p.Asp968=)
|
rs149585868
|
|
NM_014363.6(SACS):c.4145A>G (p.His1382Arg)
|
rs550057119
|
|
NM_014363.6(SACS):c.6008A>T (p.Asp2003Val)
|
rs537408260
|
|
NM_014363.6(SACS):c.7812T>C (p.Ile2604=)
|
rs1593127031
|
|
NM_014363.6(SACS):c.972C>T (p.Asp324=)
|
rs546652936
|
|
NM_014625.4(NPHS2):c.87C>T (p.Ala29=)
|
rs12123397
|
|
NM_014844.5(TECPR2):c.1397AGA[5] (p.Lys471del)
|
rs572609303
|
|
NM_014844.5(TECPR2):c.1606G>C (p.Gly536Arg)
|
rs186595127
|
|
NM_014844.5(TECPR2):c.1785G>A (p.Thr595=)
|
rs1367573550
|
|
NM_014844.5(TECPR2):c.1869G>C (p.Gly623=)
|
rs45605932
|
|
NM_014844.5(TECPR2):c.1872G>T (p.Ala624=)
|
rs145129878
|
|
NM_014844.5(TECPR2):c.1925T>A (p.Val642Asp)
|
rs746442659
|
|
NM_014844.5(TECPR2):c.2979G>A (p.Gln993=)
|
rs1889962080
|
|
NM_014844.5(TECPR2):c.3913G>T (p.Ala1305Ser)
|
rs573719989
|
|
NM_014844.5(TECPR2):c.4116G>A (p.Pro1372=)
|
rs777406369
|
|
NM_014844.5(TECPR2):c.4116G>T (p.Pro1372=)
|
rs777406369
|
|
NM_014844.5(TECPR2):c.4194G>A (p.Met1398Ile)
|
rs757191728
|
|
NM_014844.5(TECPR2):c.741C>T (p.Val247=)
|
rs551933071
|
|
NM_015166.4(MLC1):c.654C>A (p.Asn218Lys)
|
rs41302601
|
|
NM_015272.5(RPGRIP1L):c.1120C>T (p.His374Tyr)
|
rs200773352
|
|
NM_015272.5(RPGRIP1L):c.3010C>T (p.His1004Tyr)
|
rs574430009
|
|
NM_015506.3(MMACHC):c.433A>T (p.Ile145Leu)
|
rs74365027
|
|
NM_015506.3(MMACHC):c.481C>A (p.Arg161=)
|
rs370596113
|
|
NM_015506.3(MMACHC):c.603T>C (p.Arg201=)
|
rs398124294
|
|
NM_015506.3(MMACHC):c.627G>C (p.Val209=)
|
rs1327886469
|
|
NM_015506.3(MMACHC):c.816C>A (p.Pro272=)
|
rs754568180
|
|
NM_015627.3(LDLRAP1):c.27G>A (p.Arg9=)
|
rs1340216590
|
|
NM_015627.3(LDLRAP1):c.363A>G (p.Ala121=)
|
rs1572039510
|
|
NM_016277.5(RAB23):c.551C>T (p.Thr184Met)
|
rs140295281
|
|
NM_017777.4(MKS1):c.1213G>A (p.Asp405Asn)
|
rs372554696
|
|
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_018941.4(CLN8):c.21G>A (p.Gly7=)
|
rs751762914
|
|
NM_018941.4(CLN8):c.696A>G (p.Thr232=)
|
rs1337045486
|
|
NM_019098.5(CNGB3):c.1956C>T (p.Thr652=)
|
rs767430685
|
|
NM_019098.5(CNGB3):c.2124A>G (p.Gly708=)
|
rs769689524
|
|
NM_019098.5(CNGB3):c.2217T>C (p.Asp739=)
|
rs1425570775
|
|
NM_019098.5(CNGB3):c.494-11del
|
rs36008065
|
|
NM_019098.5(CNGB3):c.504G>T (p.Thr168=)
|
rs751547136
|
|
NM_020166.5(MCCC1):c.231G>A (p.Ala77=)
|
rs144230304
|
|
NM_020166.5(MCCC1):c.81G>A (p.Leu27=)
|
rs1439662567
|
|
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_022124.6(CDH23):c.2193G>C (p.Thr731=)
|
rs397517315
|
|
NM_022124.6(CDH23):c.2751C>T (p.Leu917=)
|
rs369180032
|
|
NM_022124.6(CDH23):c.3162C>G (p.Thr1054=)
|
rs377259987
|
|
NM_022124.6(CDH23):c.5051G>A (p.Arg1684His)
|
rs111033475
|
|
NM_022124.6(CDH23):c.6169A>G (p.Ile2057Val)
|
rs573057228
|
|
NM_023036.6(DNAI2):c.123C>T (p.Phe41=)
|
rs542439989
|
|
NM_023036.6(DNAI2):c.1287C>T (p.Asp429=)
|
rs372940037
|
|
NM_023036.6(DNAI2):c.147G>C (p.Thr49=)
|
rs369017940
|
|
NM_023036.6(DNAI2):c.1644C>T (p.Ala548=)
|
rs9908476
|
|
NM_023036.6(DNAI2):c.339C>T (p.Leu113=)
|
rs957243389
|
|
NM_023036.6(DNAI2):c.685T>G (p.Ser229Ala)
|
rs576683556
|
|
NM_024301.5(FKRP):c.561C>G (p.Ala187=)
|
rs771770302
|
|
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_024685.4(BBS10):c.1092C>T (p.Asn364=)
|
rs1951763479
|
|
NM_024685.4(BBS10):c.1158G>A (p.Leu386=)
|
rs138702315
|
|
NM_024685.4(BBS10):c.1602T>G (p.Thr534=)
|
rs750402316
|
|
NM_024685.4(BBS10):c.2167C>T (p.Leu723=)
|
rs1003705267
|
|
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_025114.4(CEP290):c.1789T>C (p.Leu597=)
|
rs2039096949
|
|
NM_025114.4(CEP290):c.4578G>A (p.Glu1526=)
|
rs775294433
|
|
NM_025114.4(CEP290):c.5391T>C (p.Asn1797=)
|
rs1034544936
|
|
NM_025114.4(CEP290):c.6001T>C (p.Leu2001=)
|
rs112738303
|
|
NM_025114.4(CEP290):c.6165T>C (p.Cys2055=)
|
rs2034700190
|
|
NM_025215.6(PUS1):c.1065G>A (p.Pro355=)
|
rs147555676
|
|
NM_025216.3(WNT10A):c.1146C>T (p.Asn382=)
|
rs759671927
|
|
NM_031885.5(BBS2):c.984C>T (p.Leu328=)
|
rs1285508370
|
|
NM_032383.5(HPS3):c.2479C>T (p.Leu827=)
|
rs773017257
|
|
NM_032520.5(GNPTG):c.862A>C (p.Arg288=)
|
rs200471078
|
|
NM_033056.4(PCDH15):c.4728G>A (p.Gln1576=)
|
rs1564538186
|
|
NM_033056.4(PCDH15):c.4794G>A (p.Gln1598=)
|
rs372440971
|
|
NM_033056.4(PCDH15):c.5280_5342del (p.Ala1761_Pro1781del)
|
rs1554820012
|
|
NM_033056.4(PCDH15):c.5287_5301del (p.Ala1763_Pro1767del)
|
rs770671117
|
|
NM_033056.4(PCDH15):c.5347_5363del (p.Pro1783fs)
|
rs748086016
|
|
NM_033056.4(PCDH15):c.5406G>T (p.Thr1802=)
|
rs534255804
|
|
NM_033305.3(VPS13A):c.1146T>A (p.Leu382=)
|
rs556865512
|
|
NM_033305.3(VPS13A):c.1581A>G (p.Gly527=)
|
rs757215593
|
|
NM_033305.3(VPS13A):c.3714A>C (p.Thr1238=)
|
rs769379977
|
|
NM_033305.3(VPS13A):c.4386A>G (p.Arg1462=)
|
rs1829282039
|
|
NM_033305.3(VPS13A):c.7044T>A (p.Pro2348=)
|
rs143259810
|
|
NM_033305.3(VPS13A):c.7420-4C>T
|
rs764829121
|
|
NM_033380.3(COL4A5):c.3357C>A (p.Gly1119=)
|
rs773019423
|
|
NM_033380.3(COL4A5):c.3829C>A (p.Pro1277Thr)
|
rs761470284
|
|
NM_033380.3(COL4A5):c.4282C>T (p.Arg1428Cys)
|
rs144282156
|
|
NM_033380.3(COL4A5):c.4529-6T>C
|
rs775079914
|
|
NM_052845.4(MMAB):c.735C>T (p.Ala245=)
|
rs377015836
|
|
NM_054012.4(ASS1):c.408C>T (p.Ala136=)
|
rs765880041
|
|
NM_057176.3(BSND):c.393G>A (p.Leu131=)
|
rs201387711
|
|
NM_130849.4(SLC39A4):c.1261A>T (p.Asn421Tyr)
|
rs373681902
|
|
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_138694.4(PKHD1):c.10230A>G (p.Gln3410=)
|
rs1349645712
|
|
NM_138694.4(PKHD1):c.10281A>G (p.Leu3427=)
|
rs763463216
|
|
NM_138694.4(PKHD1):c.10411G>A (p.Val3471Ile)
|
rs553752644
|
|
NM_138694.4(PKHD1):c.10737A>G (p.Val3579=)
|
rs555442845
|
|
NM_138694.4(PKHD1):c.11217G>T (p.Arg3739=)
|
rs958665190
|
|
NM_138694.4(PKHD1):c.11507-7G>A
|
rs373438297
|
|
NM_138694.4(PKHD1):c.11958T>A (p.Ala3986=)
|
rs1766324047
|
|
NM_138694.4(PKHD1):c.15G>A (p.Leu5=)
|
rs1812540624
|
|
NM_138694.4(PKHD1):c.1710C>T (p.Asn570=)
|
rs200592905
|
|
NM_138694.4(PKHD1):c.1728C>T (p.Thr576=)
|
rs1468634187
|
|
NM_138694.4(PKHD1):c.1773T>G (p.Pro591=)
|
rs2128207463
|
|
NM_138694.4(PKHD1):c.1899C>T (p.Ile633=)
|
rs751853495
|
|
NM_138694.4(PKHD1):c.2463C>G (p.Ala821=)
|
rs9474136
|
|
NM_138694.4(PKHD1):c.2463C>T (p.Ala821=)
|
rs9474136
|
|
NM_138694.4(PKHD1):c.279C>G (p.Thr93=)
|
rs1052073195
|
|
NM_138694.4(PKHD1):c.2934G>A (p.Gln978=)
|
rs536715802
|
|
NM_138694.4(PKHD1):c.3024C>T (p.Ala1008=)
|
rs559684657
|
|
NM_138694.4(PKHD1):c.3043C>T (p.Leu1015=)
|
rs1272367929
|
|
NM_138694.4(PKHD1):c.3432C>T (p.His1144=)
|
rs376881116
|
|
NM_138694.4(PKHD1):c.3933A>G (p.Thr1311=)
|
rs2128145709
|
|
NM_138694.4(PKHD1):c.3936T>C (p.Asn1312=)
|
rs757243486
|
|
NM_138694.4(PKHD1):c.4047G>A (p.Leu1349=)
|
rs754565280
|
|
NM_138694.4(PKHD1):c.4236G>A (p.Leu1412=)
|
rs2128144470
|
|
NM_138694.4(PKHD1):c.4257G>A (p.Arg1419=)
|
rs577832997
|
|
NM_138694.4(PKHD1):c.4539T>C (p.Ala1513=)
|
rs2128143441
|
|
NM_138694.4(PKHD1):c.4674G>A (p.Gly1558=)
|
rs943531478
|
|
NM_138694.4(PKHD1):c.4812G>A (p.Thr1604=)
|
rs780533224
|
|
NM_138694.4(PKHD1):c.4844C>T (p.Thr1615Met)
|
rs147529495
|
|
NM_138694.4(PKHD1):c.5199C>T (p.Thr1733=)
|
rs148790132
|
|
NM_138694.4(PKHD1):c.5259G>T (p.Val1753=)
|
rs200864129
|
|
NM_138694.4(PKHD1):c.5877C>T (p.Asn1959=)
|
rs955588679
|
|
NM_138694.4(PKHD1):c.6267G>A (p.Pro2089=)
|
rs1399100600
|
|
NM_138694.4(PKHD1):c.779-13_779-12del
|
rs5876252
|
|
NM_138694.4(PKHD1):c.786A>G (p.Leu262=)
|
rs570064466
|
|
NM_138694.4(PKHD1):c.8163A>G (p.Pro2721=)
|
rs764470314
|
|
NM_138694.4(PKHD1):c.8598C>T (p.Asn2866=)
|
rs893003949
|
|
NM_138694.4(PKHD1):c.8673C>T (p.Arg2891=)
|
rs116098879
|
|
NM_138694.4(PKHD1):c.904G>A (p.Val302Met)
|
rs779418460
|
|
NM_138694.4(PKHD1):c.9369G>A (p.Ala3123=)
|
rs745523374
|
|
NM_138694.4(PKHD1):c.9369G>T (p.Ala3123=)
|
rs745523374
|
|
NM_138694.4(PKHD1):c.9384T>C (p.His3128=)
|
rs2150984309
|
|
NM_138694.4(PKHD1):c.9408T>C (p.Ser3136=)
|
rs1785490409
|
|
NM_138694.4(PKHD1):c.9546A>G (p.Val3182=)
|
rs758820099
|
|
NM_152443.3(RDH12):c.39G>A (p.Ser13=)
|
rs146672918
|
|
NM_152443.3(RDH12):c.474C>G (p.Leu158=)
|
rs755916691
|
|
NM_152443.3(RDH12):c.474C>T (p.Leu158=)
|
rs755916691
|
|
NM_152443.3(RDH12):c.552C>T (p.Pro184=)
|
rs1453486367
|
|
NM_152443.3(RDH12):c.931C>T (p.Leu311=)
|
rs201458213
|
|
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_152618.3(BBS12):c.318T>C (p.Gly106=)
|
rs1578489832
|
|
NM_153006.3(NAGS):c.1398G>A (p.Arg466=)
|
rs369492320
|
|
NM_153006.3(NAGS):c.201C>T (p.Asp67=)
|
rs748567515
|
|
NM_153717.3(EVC):c.162C>T (p.Arg54=)
|
rs1305323625
|
|
NM_153717.3(EVC):c.1776+7G>A
|
rs750719632
|
|
NM_153717.3(EVC):c.1854C>A (p.Gly618=)
|
rs11737221
|
|
NM_153717.3(EVC):c.1995G>T (p.Ser665=)
|
rs142897994
|
|
NM_153717.3(EVC):c.2274G>A (p.Lys758=)
|
rs199611644
|
|
NM_153717.3(EVC):c.2913G>A (p.Gln971=)
|
rs370649784
|
|
NM_153717.3(EVC):c.933C>T (p.Ile311=)
|
rs759718572
|
|
NM_172250.3(MMAA):c.1002G>A (p.Gly334=)
|
rs1018880684
|
|
NM_178138.6(LHX3):c.582G>C (p.Thr194=)
|
rs759590430
|
|
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
|
|
NM_183050.4(BCKDHB):c.51A>C (p.Ala17=)
|
rs376293687
|
|
NM_183050.4(BCKDHB):c.51A>G (p.Ala17=)
|
rs376293687
|
|
NM_201253.3(CRB1):c.1428C>G (p.Thr476=)
|
rs62636282
|
|
NM_201253.3(CRB1):c.2316A>G (p.Leu772=)
|
rs964544440
|
|
NM_201525.4(ADGRG1):c.1978C>A (p.Arg660=)
|
rs777803292
|
|
NM_201525.4(ADGRG1):c.462C>T (p.Ala154=)
|
rs373133040
|
|
NM_201525.4(ADGRG1):c.840G>A (p.Arg280=)
|
rs1597552134
|
|
NM_201548.5(CERKL):c.264T>C (p.Cys88=)
|
rs765835624
|
|
NM_201548.5(CERKL):c.699T>C (p.Asp233=)
|
rs769255785
|
|
NM_206933.4(USH2A):c.11390-24CT[8]
|
rs140003076
|
|
NM_206933.4(USH2A):c.14512G>A (p.Gly4838Arg)
|
rs533097255
|
|
NM_206933.4(USH2A):c.14838G>T (p.Val4946=)
|
rs949583594
|
|
NM_206933.4(USH2A):c.14859C>T (p.Asp4953=)
|
rs1571923764
|
|
NM_206933.4(USH2A):c.2920G>A (p.Asp974Asn)
|
rs540564733
|
|
NM_206933.4(USH2A):c.3405G>A (p.Arg1135=)
|
rs372843685
|
|
NM_206933.4(USH2A):c.3783A>G (p.Val1261=)
|
rs200698585
|
|
NM_206933.4(USH2A):c.6528T>C (p.Tyr2176=)
|
rs560847831
|
|
NM_206933.4(USH2A):c.732T>C (p.Gly244=)
|
rs576466805
|
|
NM_206933.4(USH2A):c.7626G>C (p.Leu2542=)
|
rs577063450
|
|
NM_206933.4(USH2A):c.8787C>G (p.Ala2929=)
|
rs371183424
|
|
NM_206933.4(USH2A):c.9771T>C (p.Asn3257=)
|
rs755843100
|
|
NM_213653.4(HJV):c.189AGG[7] (p.Gly69dup)
|
rs587644102
|
|
NM_213653.4(HJV):c.345C>T (p.Ile115=)
|
rs142575526
|
|
NR_003051.3(RMRP):n.-24A>G
|
rs529852688
|
|
NR_003051.3(RMRP):n.-9T>G
|
rs12552387
|
|
NR_003051.4(RMRP):n.268G>C
|
rs535022008
|
|