NM_001367624.2(ZNF469):c.3153T>C (p.Ile1051=)
|
rs9924504
|
0.99996
|
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_001367624.2(ZNF469):c.11856C>T (p.Ser3952=)
|
rs4782362
|
0.98833
|
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_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_001367624.2(ZNF469):c.3568A>G (p.Lys1190Glu)
|
rs7197071
|
0.80067
|
NM_001367624.2(ZNF469):c.11757A>G (p.Pro3919=)
|
rs4782301
|
0.77860
|
NM_000271.5(NPC1):c.1926G>C (p.Met642Ile)
|
rs1788799
|
0.73957
|
NM_001367624.2(ZNF469):c.2130T>C (p.Pro710=)
|
rs12918876
|
0.60216
|
NM_001042545.2(LTBP4):c.379G>A (p.Val127Ile)
|
rs2303729
|
0.50929
|
NM_001042545.2(LTBP4):c.3687C>T (p.Asp1229=)
|
rs7367
|
0.50292
|
NM_000271.5(NPC1):c.2572A>G (p.Ile858Val)
|
rs1805082
|
0.49943
|
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_001367624.2(ZNF469):c.10972G>C (p.Glu3658Gln)
|
rs1105066
|
0.44478
|
NM_001367624.2(ZNF469):c.8604C>T (p.Arg2868=)
|
rs3812953
|
0.43642
|
NM_016938.5(EFEMP2):c.276C>T (p.His92=)
|
rs633800
|
0.39212
|
NM_001042545.2(LTBP4):c.3221C>T (p.Thr1074Met)
|
rs10880
|
0.39072
|
NM_002860.4(ALDH18A1):c.2206+15G>A
|
rs10882640
|
0.39029
|
NM_001367624.2(ZNF469):c.7156G>C (p.Gly2386Arg)
|
rs12598474
|
0.36151
|
NM_001367624.2(ZNF469):c.8093T>A (p.Leu2698Gln)
|
rs3812956
|
0.32763
|
NM_000360.4(TH):c.241G>A (p.Val81Met)
|
rs6356
|
0.31555
|
NM_000271.5(NPC1):c.644A>G (p.His215Arg)
|
rs1805081
|
0.29390
|
NM_000360.4(TH):c.977+8C>G
|
rs12419447
|
0.27597
|
NM_000360.4(TH):c.720G>A (p.Lys240=)
|
rs6357
|
0.23916
|
NM_000271.5(NPC1):c.387T>C (p.Tyr129=)
|
rs12970899
|
0.13133
|
NM_000271.5(NPC1):c.3797G>A (p.Arg1266Gln)
|
rs1805084
|
0.10225
|
NM_000123.4(ERCC5):c.1586G>C (p.Cys529Ser)
|
rs2227869
|
0.04366
|
NM_152618.3(BBS12):c.1286G>C (p.Ser429Thr)
|
rs7665271
|
0.03441
|
NM_000123.4(ERCC5):c.1440C>T (p.His480=)
|
rs4150316
|
0.03429
|
NM_152618.3(BBS12):c.1209G>A (p.Val403=)
|
rs17006092
|
0.03229
|
NM_152618.3(BBS12):c.1062G>C (p.Val354=)
|
rs34296401
|
0.03153
|
NM_016038.4(SBDS):c.635T>C (p.Ile212Thr)
|
rs79344818
|
0.02573
|
NM_000123.4(ERCC5):c.767A>G (p.Gln256Arg)
|
rs4150313
|
0.02531
|
NM_000123.4(ERCC5):c.429C>G (p.Leu143=)
|
rs4140390
|
0.02517
|
NM_000123.4(ERCC5):c.760A>G (p.Met254Val)
|
rs1047769
|
0.02485
|
NM_198428.3(BBS9):c.1546C>A (p.Pro516Thr)
|
rs73688160
|
0.01649
|
NM_031885.5(BBS2):c.1413A>C (p.Val471=)
|
rs35294865
|
0.01415
|
NM_198428.3(BBS9):c.2299-20A>C
|
rs17727583
|
0.01007
|
NM_000123.4(ERCC5):c.960C>T (p.Asp320=)
|
rs4150314
|
0.00931
|
NM_198428.3(BBS9):c.1562G>A (p.Arg521Gln)
|
rs34218557
|
0.00872
|
NM_152618.3(BBS12):c.714T>G (p.Asn238Lys)
|
rs17006082
|
0.00860
|
NM_016038.4(SBDS):c.141C>T (p.Leu47=)
|
rs113993989
|
0.00747
|
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn)
|
rs142863601
|
0.00738
|
NM_176824.3(BBS7):c.1512-7A>T
|
rs115987385
|
0.00545
|
NM_031885.5(BBS2):c.805-20A>G
|
rs41280892
|
0.00423
|
NM_031885.5(BBS2):c.1422G>A (p.Ser474=)
|
rs117033008
|
0.00250
|
NM_016938.5(EFEMP2):c.1188C>T (p.Ser396=)
|
rs2234473
|
0.00178
|
NM_198428.3(BBS9):c.2470C>T (p.Arg824Cys)
|
rs146752751
|
0.00076
|
NM_000271.5(NPC1):c.1947+8dup
|
rs3837910
|
|
NM_000271.5(NPC1):c.2131-4del
|
rs11299077
|
|
NM_000271.5(NPC1):c.2131-5_2131-4del
|
rs11299077
|
|
NM_001367624.2(ZNF469):c.1069T>C (p.Ser357Pro)
|
rs11648572
|
|