NM_001367624.2(ZNF469):c.3153T>C (p.Ile1051=)
|
rs9924504
|
0.99996
|
NM_207361.6(FREM2):c.576G>A (p.Glu192=)
|
rs1868464
|
0.99992
|
NM_030928.4(CDT1):c.700T>C (p.Cys234Arg)
|
rs507329
|
0.99944
|
NM_018136.5(ASPM):c.7480T>C (p.Tyr2494His)
|
rs964201
|
0.99668
|
NM_001367624.2(ZNF469):c.8627A>G (p.His2876Arg)
|
rs1983014
|
0.99622
|
NM_001367624.2(ZNF469):c.1529G>C (p.Gly510Ala)
|
rs7199961
|
0.99603
|
NM_024596.5(MCPH1):c.1175A>G (p.Asp392Gly)
|
rs2515569
|
0.99154
|
NM_001367624.2(ZNF469):c.11856C>T (p.Ser3952=)
|
rs4782362
|
0.98833
|
NM_014363.6(SACS):c.10338G>A (p.Gln3446=)
|
rs2737701
|
0.98600
|
NM_000144.5(FXN):c.54A>G (p.Pro18=)
|
rs2481598
|
0.98511
|
NM_001366722.1(GRIP1):c.2464+15T>C
|
rs7970076
|
0.97982
|
NM_025074.7(FRAS1):c.7132A>G (p.Lys2378Glu)
|
rs7684722
|
0.97162
|
NM_001042517.2(DIAPH3):c.3028-4_3028-3insGTAA
|
rs10665848
|
0.96433
|
NM_025074.7(FRAS1):c.7371+11T>C
|
rs7664505
|
0.95846
|
NM_033028.5(BBS4):c.77-6G>A
|
rs8033604
|
0.94438
|
NM_033028.5(BBS4):c.76+19G>T
|
rs4777527
|
0.94399
|
NM_025074.7(FRAS1):c.604-8G>A
|
rs2867014
|
0.93589
|
NM_004715.5(CTDP1):c.2817T>C (p.Asp939=)
|
rs626169
|
0.90284
|
NM_016938.5(EFEMP2):c.775A>G (p.Ile259Val)
|
rs601314
|
0.89787
|
NM_001367624.2(ZNF469):c.5661C>G (p.Thr1887=)
|
rs9931465
|
0.89293
|
NM_001367624.2(ZNF469):c.3522G>A (p.Pro1174=)
|
rs9938800
|
0.89252
|
NM_001366722.1(GRIP1):c.2461C>G (p.Gln821Glu)
|
rs13277
|
0.87545
|
NM_001367624.2(ZNF469):c.4343C>T (p.Pro1448Leu)
|
rs4782300
|
0.87223
|
NM_001367624.2(ZNF469):c.1776A>G (p.Pro592=)
|
rs12927001
|
0.86712
|
NM_001367624.2(ZNF469):c.4419T>G (p.Ser1473=)
|
rs12445417
|
0.85761
|
NM_001367624.2(ZNF469):c.1098A>C (p.Arg366Ser)
|
rs11640794
|
0.84448
|
NM_018249.6(CDK5RAP2):c.865G>C (p.Glu289Gln)
|
rs4836822
|
0.84114
|
NM_030928.4(CDT1):c.915T>C (p.His305=)
|
rs510862
|
0.83978
|
NM_001134831.2(AHI1):c.1780-14C>T
|
rs2757645
|
0.81825
|
NM_018136.5(ASPM):c.7566A>G (p.Leu2522=)
|
rs1412640
|
0.80210
|
NM_001367624.2(ZNF469):c.3568A>G (p.Lys1190Glu)
|
rs7197071
|
0.80067
|
NM_176824.3(BBS7):c.1891-12C>A
|
rs2706793
|
0.79185
|
NM_016239.4(MYO15A):c.5929T>C (p.Cys1977Arg)
|
rs854777
|
0.79149
|
NM_025074.7(FRAS1):c.1947T>C (p.His649=)
|
rs345514
|
0.79008
|
NM_015702.3(MMADHC):c.453G>A (p.Gln151=)
|
rs11545261
|
0.78682
|
NM_001367624.2(ZNF469):c.11757A>G (p.Pro3919=)
|
rs4782301
|
0.77860
|
NM_018136.5(ASPM):c.10331+8A>G
|
rs10754213
|
0.77181
|
NM_018136.5(ASPM):c.3579T>A (p.Ser1193=)
|
rs4915337
|
0.77164
|
NM_004836.7(EIF2AK3):c.2110G>T (p.Ala704Ser)
|
rs1805165
|
0.76783
|
NM_002180.3(IGHMBP2):c.602T>C (p.Leu201Ser)
|
rs560096
|
0.76511
|
NM_016239.4(MYO15A):c.5826-12A>C
|
rs854778
|
0.76256
|
NM_002180.3(IGHMBP2):c.57T>C (p.Leu19=)
|
rs1249463
|
0.76080
|
NM_014630.3(ZNF592):c.2238A>G (p.Gln746=)
|
rs2241645
|
0.75696
|
NM_001083961.2(WDR62):c.4170A>C (p.Leu1390Phe)
|
rs1008328
|
0.75234
|
NM_018136.5(ASPM):c.441+14C>T
|
rs1571964
|
0.74895
|
NM_018136.5(ASPM):c.849C>T (p.Ser283=)
|
rs6677082
|
0.74886
|
NM_000271.5(NPC1):c.1926G>C (p.Met642Ile)
|
rs1788799
|
0.73957
|
NM_207361.6(FREM2):c.6977C>T (p.Thr2326Ile)
|
rs9548509
|
0.73365
|
NM_001163809.2(WDR81):c.4971A>G (p.Leu1657=)
|
rs3809872
|
0.73341
|
NM_004836.7(EIF2AK3):c.497A>G (p.Gln166Arg)
|
rs13045
|
0.71334
|
NM_018249.6(CDK5RAP2):c.4618G>C (p.Val1540Leu)
|
rs4837768
|
0.70962
|
NM_024596.5(MCPH1):c.228G>T (p.Val76=)
|
rs2305022
|
0.69651
|
NM_001083961.2(WDR62):c.2549T>C (p.Leu850Ser)
|
rs2285745
|
0.68524
|
NM_001083961.2(WDR62):c.3929A>T (p.Gln1310Leu)
|
rs2074435
|
0.67813
|
NM_001366722.1(GRIP1):c.724+10G>A
|
rs12316942
|
0.67684
|
NM_025074.7(FRAS1):c.6468C>T (p.His2156=)
|
rs753752
|
0.67410
|
NM_024596.5(MCPH1):c.940G>C (p.Asp314His)
|
rs930557
|
0.67053
|
NM_024649.5(BBS1):c.*7A>G
|
rs8432
|
0.66464
|
NM_004700.4(KCNQ4):c.708+14G>C
|
rs2361660
|
0.66283
|
NM_004700.4(KCNQ4):c.777T>C (p.Ala259=)
|
rs4660468
|
0.65693
|
NM_001278064.2(GRM1):c.3168T>G (p.Gly1056=)
|
rs6923864
|
0.64620
|
NM_015910.7(WDPCP):c.1915+13G>A
|
rs992214
|
0.63738
|
NM_001367624.2(ZNF469):c.2130T>C (p.Pro710=)
|
rs12918876
|
0.60216
|
NM_000370.3(TTPA):c.663+11T>C
|
rs4501570
|
0.59337
|
NM_001134831.2(AHI1):c.3426+13G>A
|
rs6914831
|
0.59084
|
NM_018075.5(ANO10):c.1385G>A (p.Arg462Gln)
|
rs3772165
|
0.58882
|
NM_001048166.1(STIL):c.257C>T (p.Ala86Val)
|
rs3125630
|
0.58260
|
NM_001278064.2(GRM1):c.2977T>C (p.Ser993Pro)
|
rs6923492
|
0.56892
|
NM_018075.5(ANO10):c.1293+9A>G
|
rs7616708
|
0.56196
|
NM_020661.4(AICDA):c.156+16G>A
|
rs2518144
|
0.55804
|
NM_001278064.2(GRM1):c.3495C>A (p.Pro1165=)
|
rs9373491
|
0.55222
|
NM_016042.4(EXOSC3):c.498G>A (p.Gln166=)
|
rs7158
|
0.53959
|
NM_020661.4(AICDA):c.465C>T (p.His155=)
|
rs2028373
|
0.53597
|
NM_012233.3(RAB3GAP1):c.2265T>C (p.Phe755=)
|
rs17261772
|
0.53257
|
NM_014425.5(INVS):c.2412T>C (p.Ser804=)
|
rs2787374
|
0.53208
|
NM_033028.5(BBS4):c.1061T>C (p.Ile354Thr)
|
rs2277598
|
0.52665
|
NM_025074.7(FRAS1):c.10696G>A (p.Val3566Ile)
|
rs931606
|
0.51866
|
NM_004086.3(COCH):c.1055C>G (p.Thr352Ser)
|
rs1045644
|
0.51720
|
NM_000782.5(CYP24A1):c.552C>T (p.Ala184=)
|
rs2296241
|
0.51337
|
NM_025074.7(FRAS1):c.9116-11T>C
|
rs7677541
|
0.51261
|
NM_001042545.2(LTBP4):c.379G>A (p.Val127Ile)
|
rs2303729
|
0.50929
|
NM_025074.7(FRAS1):c.9116-5C>G
|
rs7695038
|
0.50468
|
NM_001042545.2(LTBP4):c.3687C>T (p.Asp1229=)
|
rs7367
|
0.50292
|
NM_025074.7(FRAS1):c.95A>G (p.Asp32Gly)
|
rs4859905
|
0.50277
|
NM_022464.5(SIL1):c.153A>G (p.Thr51=)
|
rs3088052
|
0.50252
|
NM_001366722.1(GRIP1):c.1838+13G>T
|
rs7397862
|
0.49975
|
NM_001278064.2(GRM1):c.2793G>A (p.Lys931=)
|
rs2942
|
0.49950
|
NM_000271.5(NPC1):c.2572A>G (p.Ile858Val)
|
rs1805082
|
0.49943
|
NM_000231.3(SGCG):c.312T>G (p.Leu104=)
|
rs1800351
|
0.47318
|
NM_001042545.2(LTBP4):c.2158A>G (p.Thr720Ala)
|
rs1131620
|
0.47295
|
NM_001042545.2(LTBP4):c.2257A>G (p.Thr753Ala)
|
rs1051303
|
0.47266
|
NM_000271.5(NPC1):c.2793C>T (p.Asn931=)
|
rs1140458
|
0.45824
|
NM_014053.4(FLVCR1):c.154G>C (p.Ala52Pro)
|
rs11120047
|
0.45814
|
NM_024596.5(MCPH1):c.2215-19A>G
|
rs2936531
|
0.45478
|
NM_020247.5(COQ8A):c.1660-9T>C
|
rs7552783
|
0.45219
|
NM_001367624.2(ZNF469):c.10972G>C (p.Glu3658Gln)
|
rs1105066
|
0.44478
|
NM_024596.5(MCPH1):c.2282C>T (p.Ala761Val)
|
rs1057090
|
0.44044
|
NM_001367624.2(ZNF469):c.8604C>T (p.Arg2868=)
|
rs3812953
|
0.43642
|
NM_025074.7(FRAS1):c.2450C>T (p.Ala817Val)
|
rs6835769
|
0.43382
|
NM_001042472.3(ABHD12):c.837C>T (p.Arg279=)
|
rs6107027
|
0.42961
|
NM_148919.4(PSMB8):c.407+6C>T
|
rs9276810
|
0.42678
|
NM_152618.3(BBS12):c.1157G>A (p.Arg386Gln)
|
rs309370
|
0.42071
|
NM_025074.7(FRAS1):c.11037C>G (p.Pro3679=)
|
rs4975070
|
0.42060
|
NM_025074.7(FRAS1):c.11056C>T (p.Leu3686=)
|
rs4975139
|
0.42041
|
NM_020247.5(COQ8A):c.1716T>C (p.Ser572=)
|
rs3738725
|
0.42035
|
NM_001048166.1(STIL):c.3486T>C (p.Pro1162=)
|
rs2758735
|
0.41846
|
NM_016239.4(MYO15A):c.1899A>G (p.Pro633=)
|
rs2955366
|
0.41355
|
NM_006642.5(SDCCAG8):c.1725G>A (p.Glu575=)
|
rs10927011
|
0.41204
|
NM_176824.3(BBS7):c.1890+16G>A
|
rs1507994
|
0.40768
|
NM_016239.4(MYO15A):c.1783G>A (p.Ala595Thr)
|
rs2955365
|
0.39950
|
NM_024596.5(MCPH1):c.2226C>T (p.Ser742=)
|
rs2912010
|
0.39666
|
NM_001042545.2(LTBP4):c.3221C>T (p.Thr1074Met)
|
rs10880
|
0.39072
|
NM_002860.4(ALDH18A1):c.2206+15G>A
|
rs10882640
|
0.39029
|
NM_014053.4(FLVCR1):c.1631C>T (p.Thr544Met)
|
rs3207090
|
0.38895
|
NM_020247.5(COQ8A):c.1573-20C>G
|
rs2297416
|
0.38143
|
NM_024596.5(MCPH1):c.2418C>A (p.Ala806=)
|
rs2912016
|
0.37333
|
NM_001367624.2(ZNF469):c.7156G>C (p.Gly2386Arg)
|
rs12598474
|
0.36151
|
NM_016239.4(MYO15A):c.2152T>G (p.Trp718Gly)
|
rs2955367
|
0.34123
|
NM_001367624.2(ZNF469):c.8093T>A (p.Leu2698Gln)
|
rs3812956
|
0.32763
|
NM_003384.3(VRK1):c.705C>T (p.Gly235=)
|
rs2230532
|
0.32707
|
NM_025074.7(FRAS1):c.8439C>T (p.Asp2813=)
|
rs11098194
|
0.32564
|
NM_025074.7(FRAS1):c.7011G>A (p.Ala2337=)
|
rs6851427
|
0.32517
|
NM_003384.3(VRK1):c.45A>G (p.Ala15=)
|
rs2145635
|
0.32398
|
NM_025074.7(FRAS1):c.1396T>A (p.Leu466Ile)
|
rs12504081
|
0.31848
|
NM_025074.7(FRAS1):c.9808A>C (p.Arg3270=)
|
rs3749488
|
0.31772
|
NM_025074.7(FRAS1):c.5366+13T>G
|
rs2170899
|
0.31001
|
NM_018136.5(ASPM):c.7939C>A (p.Leu2647Ile)
|
rs3762271
|
0.30411
|
NM_018136.5(ASPM):c.4449A>G (p.Lys1483=)
|
rs2878749
|
0.30404
|
NM_018136.5(ASPM):c.7684A>G (p.Ser2562Gly)
|
rs41310927
|
0.30288
|
NM_014425.5(INVS):c.1235-5T>C
|
rs2245216
|
0.30271
|
NM_018136.5(ASPM):c.5961A>G (p.Gln1987=)
|
rs41310925
|
0.30222
|
NM_004393.6(DAG1):c.2256C>T (p.His752=)
|
rs1801143
|
0.30176
|
NM_025074.7(FRAS1):c.604-132G>A
|
rs6856362
|
0.30120
|
NM_000271.5(NPC1):c.644A>G (p.His215Arg)
|
rs1805081
|
0.29390
|
NM_005807.6(PRG4):c.538C>T (p.Arg180Trp)
|
rs2273779
|
0.29059
|
NM_001083961.2(WDR62):c.700-18C>T
|
rs10423651
|
0.28763
|
NM_000320.3(QDPR):c.396G>A (p.Leu132=)
|
rs2597775
|
0.28406
|
NM_004836.7(EIF2AK3):c.1791A>G (p.Gln597=)
|
rs1805164
|
0.28054
|
NM_005807.6(PRG4):c.3138A>G (p.Pro1046=)
|
rs3737940
|
0.27761
|
NM_014630.3(ZNF592):c.2777G>A (p.Ser926Asn)
|
rs8182086
|
0.27524
|
NM_001077418.3(TMEM231):c.582+17T>A
|
rs2738801
|
0.27293
|
NM_001366722.1(GRIP1):c.503-15C>A
|
rs11838180
|
0.27190
|
NM_024596.5(MCPH1):c.2482C>T (p.Pro828Ser)
|
rs1057091
|
0.26146
|
NM_001048166.1(STIL):c.2954A>G (p.His985Arg)
|
rs13376679
|
0.25624
|
NM_018136.5(ASPM):c.3138G>A (p.Arg1046=)
|
rs6676084
|
0.25582
|
NM_006642.5(SDCCAG8):c.1134A>T (p.Glu378Asp)
|
rs2275155
|
0.25552
|
NM_018109.4(MTPAP):c.555+19C>T
|
rs1047988
|
0.25271
|
NM_018109.4(MTPAP):c.484C>T (p.Arg162Cys)
|
rs1047991
|
0.24628
|
NM_025074.7(FRAS1):c.108+2546T>C
|
rs10008489
|
0.24570
|
NM_025074.7(FRAS1):c.3406G>A (p.Glu1136Lys)
|
rs12512164
|
0.24213
|
NM_002180.3(IGHMBP2):c.2011A>G (p.Thr671Ala)
|
rs622082
|
0.24183
|
NM_002180.3(IGHMBP2):c.2316C>T (p.Ser772=)
|
rs546382
|
0.24174
|
NM_024649.5(BBS1):c.724-8G>C
|
rs10896125
|
0.24158
|
NM_025074.7(FRAS1):c.7254A>G (p.Lys2418=)
|
rs34840208
|
0.22689
|
NM_004836.7(EIF2AK3):c.1763+6A>T
|
rs6750998
|
0.22566
|
NM_001163809.2(WDR81):c.5127G>A (p.Pro1709=)
|
rs8065251
|
0.22229
|
NM_014053.4(FLVCR1):c.1307+19T>A
|
rs2291772
|
0.21660
|
NM_014053.4(FLVCR1):c.1593+9T>C
|
rs17019870
|
0.21623
|
NM_000277.3(PAH):c.168+19T>C
|
rs17842947
|
0.21168
|
NM_024649.5(BBS1):c.378G>A (p.Leu126=)
|
rs2298806
|
0.21158
|
NM_004715.5(CTDP1):c.978G>A (p.Thr326=)
|
rs599554
|
0.20817
|
NM_002180.3(IGHMBP2):c.2080C>T (p.Arg694Trp)
|
rs2236654
|
0.20662
|
NM_002180.3(IGHMBP2):c.1554C>T (p.Val518=)
|
rs11228413
|
0.20651
|
NM_031885.5(BBS2):c.367A>G (p.Ile123Val)
|
rs11373
|
0.20545
|
NM_000277.3(PAH):c.735G>A (p.Val245=)
|
rs1042503
|
0.19782
|
NM_002180.3(IGHMBP2):c.823A>G (p.Ile275Val)
|
rs10896380
|
0.19067
|
NM_152618.3(BBS12):c.1410C>T (p.Cys470=)
|
rs13135445
|
0.19015
|
NM_018249.6(CDK5RAP2):c.2274T>C (p.Asp758=)
|
rs2501727
|
0.18906
|
NM_002109.6(HARS1):c.1458+7G>A
|
rs58302597
|
0.18812
|
NM_002180.3(IGHMBP2):c.-2C>T
|
rs4930624
|
0.18778
|
NM_004715.5(CTDP1):c.1461G>A (p.Pro487=)
|
rs2126082
|
0.18278
|
NM_198428.3(BBS9):c.1363G>A (p.Ala455Thr)
|
rs11773504
|
0.17589
|
NM_020247.5(COQ8A):c.117G>A (p.Ala39=)
|
rs11549708
|
0.16388
|
NM_018136.5(ASPM):c.2174-20T>C
|
rs4915344
|
0.16253
|
NM_018136.5(ASPM):c.7605G>A (p.Val2535=)
|
rs10922162
|
0.16179
|
NM_152618.3(BBS12):c.1380G>C (p.Val460=)
|
rs13135766
|
0.16051
|
NM_152618.3(BBS12):c.1399G>A (p.Asp467Asn)
|
rs13135778
|
0.15902
|
NM_152618.3(BBS12):c.1872A>G (p.Gln624=)
|
rs13102440
|
0.15807
|
NM_012233.3(RAB3GAP1):c.1793A>G (p.Asn598Ser)
|
rs10445686
|
0.14088
|
NM_024596.5(MCPH1):c.911G>T (p.Arg304Ile)
|
rs2083914
|
0.10697
|
NM_001146262.4(SYT14):c.1419T>C (p.Tyr473=)
|
rs17188183
|
0.09972
|
NM_014363.6(SACS):c.696T>A (p.Asn232Lys)
|
rs2031640
|
0.08558
|
NM_014363.6(SACS):c.1656A>G (p.Leu552=)
|
rs1536365
|
0.08543
|
NM_207361.6(FREM2):c.2250C>T (p.Asp750=)
|
rs41292755
|
0.07615
|
NM_001386140.1(MTTP):c.1151A>C (p.Asp384Ala)
|
rs17029215
|
0.07361
|
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu)
|
rs2227935
|
0.06742
|
NM_025074.7(FRAS1):c.3312T>C (p.Ser1104=)
|
rs35774552
|
0.06352
|
NM_018075.5(ANO10):c.1066A>G (p.Ser356Gly)
|
rs56389778
|
0.05750
|
NM_138694.4(PKHD1):c.2489A>G (p.Asn830Ser)
|
rs62406032
|
0.05010
|
NM_018075.5(ANO10):c.1682C>T (p.Thr561Met)
|
rs17409162
|
0.04859
|
NM_000045.4(ARG1):c.270C>T (p.Asn90=)
|
rs34504481
|
0.04124
|
NM_138694.4(PKHD1):c.11340T>C (p.Pro3780=)
|
rs17667728
|
0.03744
|
NM_138694.4(PKHD1):c.5896C>T (p.Leu1966=)
|
rs1266923
|
0.03202
|
NM_016038.4(SBDS):c.635T>C (p.Ile212Thr)
|
rs79344818
|
0.02573
|
NM_138694.4(PKHD1):c.1736C>T (p.Thr579Met)
|
rs45500692
|
0.02436
|
NM_005807.6(PRG4):c.1737T>C (p.Thr579=)
|
rs778925933
|
0.02340
|
NM_025074.7(FRAS1):c.3068G>A (p.Gly1023Glu)
|
rs17459809
|
0.01892
|
NM_025074.7(FRAS1):c.3124G>A (p.Ala1042Thr)
|
rs114077522
|
0.01873
|
NM_001386140.1(MTTP):c.136C>G (p.Arg46Gly)
|
rs141736123
|
0.01357
|
NM_198428.3(BBS9):c.2299-20A>C
|
rs17727583
|
0.01007
|
NM_006892.4(DNMT3B):c.1150G>A (p.Ala384Thr)
|
rs150682895
|
0.00967
|
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys)
|
rs41273726
|
0.00885
|
NM_004525.3(LRP2):c.11996T>G (p.Val3999Gly)
|
rs79723119
|
0.00834
|
NM_001083961.2(WDR62):c.2991C>T (p.Ala997=)
|
rs77898819
|
0.00804
|
NM_001083961.2(WDR62):c.142C>T (p.Leu48Phe)
|
rs62109744
|
0.00795
|
NM_000320.3(QDPR):c.96C>T (p.Ala32=)
|
rs2518608
|
0.00789
|
NM_001386140.1(MTTP):c.502G>A (p.Val168Ile)
|
rs61750974
|
0.00763
|
NM_000360.4(TH):c.684G>A (p.Glu228=)
|
rs11564716
|
0.00706
|
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg)
|
rs75295839
|
0.00687
|
NM_018136.5(ASPM):c.3742-10T>G
|
rs41299587
|
0.00665
|
NM_025074.7(FRAS1):c.9806G>A (p.Arg3269Gln)
|
rs61729366
|
0.00592
|
NM_006846.4(SPINK5):c.802C>T (p.Arg268Cys)
|
rs142558269
|
0.00581
|
NM_020247.5(COQ8A):c.1185C>T (p.Ile395=)
|
rs17849927
|
0.00488
|
NM_002860.4(ALDH18A1):c.2207-3C>T
|
rs149309642
|
0.00472
|
NM_000271.5(NPC1):c.2073G>A (p.Pro691=)
|
rs113013085
|
0.00465
|
NM_000360.4(TH):c.16G>A (p.Ala6Thr)
|
rs74555599
|
0.00462
|
NM_000382.3(ALDH3A2):c.1270C>T (p.Pro424Ser)
|
rs61737992
|
0.00419
|
NM_000271.5(NPC1):c.3450C>T (p.Asn1150=)
|
rs34715591
|
0.00373
|
NM_000271.5(NPC1):c.3598A>G (p.Ser1200Gly)
|
rs35248744
|
0.00363
|
NM_000360.4(TH):c.267G>A (p.Arg89=)
|
rs76240471
|
0.00359
|
NM_018075.5(ANO10):c.980A>G (p.Tyr327Cys)
|
rs146569520
|
0.00359
|
NM_000271.5(NPC1):c.2795+19T>C
|
rs200103695
|
0.00342
|
NM_006846.4(SPINK5):c.2243A>G (p.Glu748Gly)
|
rs181639116
|
0.00297
|
NM_014363.6(SACS):c.3129A>G (p.Ser1043=)
|
rs148878361
|
0.00292
|
NM_000271.5(NPC1):c.1532C>T (p.Thr511Met)
|
rs13381670
|
0.00283
|
NM_004525.3(LRP2):c.92C>T (p.Ala31Val)
|
rs144829356
|
0.00280
|
NM_000271.5(NPC1):c.463+19A>G
|
rs117512587
|
0.00252
|
NM_032193.4(RNASEH2C):c.417C>G (p.Gly139=)
|
rs147021687
|
0.00229
|
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile)
|
rs61729954
|
0.00227
|
NM_004525.3(LRP2):c.12380G>A (p.Arg4127His)
|
rs142934522
|
0.00195
|
NM_000320.3(QDPR):c.630-17T>C
|
rs201581320
|
0.00193
|
NM_001386140.1(MTTP):c.2513+13G>A
|
rs148073215
|
0.00176
|
NM_032193.4(RNASEH2C):c.468G>T (p.Ala156=)
|
rs61736590
|
0.00159
|
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)
|
rs75184679
|
0.00141
|
NM_032193.4(RNASEH2C):c.-10A>G
|
rs77371161
|
0.00135
|
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly)
|
rs148000791
|
0.00115
|
NM_031471.6(FERMT3):c.1893C>T (p.Ile631=)
|
rs142025489
|
0.00106
|
NM_000271.5(NPC1):c.3198C>T (p.Thr1066=)
|
rs145145840
|
0.00103
|
NM_006432.5(NPC2):c.363+7G>A
|
rs200463204
|
0.00093
|
NM_000271.5(NPC1):c.2604+14_2604+16del
|
rs747422358
|
0.00074
|
NM_000123.4(ERCC5):c.2281G>A (p.Ala761Thr)
|
rs142438319
|
0.00071
|
NM_017721.5(CC2D1A):c.2048G>A (p.Arg683Gln)
|
rs201251295
|
0.00069
|
NM_000253.3(MTTP):c.-214G>A
|
rs569667113
|
0.00066
|
NM_024570.4(RNASEH2B):c.455A>G (p.Asn152Ser)
|
rs146451037
|
0.00063
|
NM_000277.3(PAH):c.1208C>T (p.Ala403Val)
|
rs5030857
|
0.00057
|
NM_000784.4(CYP27A1):c.276C>T (p.Tyr92=)
|
rs141519183
|
0.00053
|
NM_000277.3(PAH):c.734T>C (p.Val245Ala)
|
rs76212747
|
0.00049
|
NM_000277.3(PAH):c.1315+1G>A
|
rs5030861
|
0.00040
|
NM_001386140.1(MTTP):c.2657C>T (p.Pro886Leu)
|
rs144600401
|
0.00028
|
NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys)
|
rs5030860
|
0.00025
|
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)
|
rs80358257
|
0.00021
|
NM_033064.5(ATCAY):c.442G>A (p.Ala148Thr)
|
rs200021943
|
0.00021
|
NM_000271.5(NPC1):c.3477+19T>C
|
rs375942184
|
0.00019
|
NM_001080414.4(CCDC88C):c.1050+9C>T
|
rs372411289
|
0.00015
|
NM_025009.5(CEP135):c.874C>T (p.Arg292Ter)
|
rs752140135
|
0.00006
|
NM_001083961.2(WDR62):c.2972-15G>A
|
rs1014003547
|
0.00003
|
NM_138694.4(PKHD1):c.353del (p.Ser118fs)
|
rs398124483
|
0.00003
|
NM_018965.4(TREM2):c.97C>T (p.Gln33Ter)
|
rs104894002
|
0.00002
|
NM_000277.3(PAH):c.561G>A (p.Trp187Ter)
|
rs62507336
|
0.00001
|
NM_000320.3(QDPR):c.423G>A (p.Leu141=)
|
rs1553875093
|
0.00001
|
NM_000271.5(NPC1):c.1947+10G>C
|
rs71534236
|
|
NM_000271.5(NPC1):c.1947+8_1947+9dup
|
rs3837910
|
|
NM_000271.5(NPC1):c.1947+8dup
|
rs3837910
|
|
NM_000271.5(NPC1):c.2131-4del
|
rs11299077
|
|
NM_000370.3(TTPA):c.487del (p.Trp163fs)
|
rs397515378
|
|
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser)
|
rs72551323
|
|
NM_001039141.3(TRIOBP):c.1478G>A (p.Ser493Asn)
|
rs4821700
|
|
NM_001146262.4(SYT14):c.672AGA[1] (p.Glu225del)
|
rs2307890
|
|
NM_001278064.2(GRM1):c.3213T>G (p.Pro1071=)
|
rs1047006
|
|
NM_001367624.2(ZNF469):c.1069T>C (p.Ser357Pro)
|
rs11648572
|
|
NM_001378454.1(ALMS1):c.36GGA[12] (p.Glu28del)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.36GGA[15] (p.Glu27_Glu28dup)
|
rs55889738
|
|
NM_001378454.1(ALMS1):c.8439A>G (p.Glu2813=)
|
rs886038617
|
|
NM_002855.5(NECTIN1):c.1310AGG[9] (p.Glu444dup)
|
rs137909701
|
|
NM_005219.5(DIAPH1):c.1821TCC[10] (p.Pro620del)
|
rs3075570
|
|
NM_018136.5(ASPM):c.7674C>T (p.Ile2558=)
|
rs41308365
|
|
NM_020247.5(COQ8A):c.1440C>T (p.Phe480=)
|
rs12593
|
|
NM_025074.7(FRAS1):c.2060A>G (p.Asp687Gly)
|
rs345513
|
|
NM_052989.3(IFT122):c.1993-7G>C
|
rs2285354
|
|
NM_198428.3(BBS9):c.1877_1880del (p.Lys626fs)
|
rs606231137
|
|