NM_017950.4(CCDC40):c.207G>C (p.Val69=)
|
rs2289527
|
0.98631
|
NM_001369.3(DNAH5):c.36T>G (p.His12Gln)
|
rs339445
|
0.92715
|
NM_023036.6(DNAI2):c.1672G>A (p.Ala558Thr)
|
rs1979370
|
0.77449
|
NM_016616.5(NME8):c.622T>C (p.Cys208Arg)
|
rs10250905
|
0.77108
|
NM_017802.4(DNAAF5):c.906-4T>G
|
rs6943337
|
0.76245
|
NM_017950.4(CCDC40):c.3030T>C (p.Asp1010=)
|
rs12952612
|
0.71802
|
NM_018139.3(DNAAF2):c.1185G>C (p.Ala395=)
|
rs2985686
|
0.70870
|
NM_001010892.3(RSPH4A):c.1766T>C (p.Leu589Pro)
|
rs784133
|
0.69311
|
NM_018139.3(DNAAF2):c.498C>T (p.Ala166=)
|
rs2985685
|
0.65889
|
NM_018139.3(DNAAF2):c.1482A>G (p.Thr494=)
|
rs2985687
|
0.65543
|
NM_018139.3(DNAAF2):c.186G>C (p.Glu62Asp)
|
rs2985684
|
0.64935
|
NM_017802.4(DNAAF5):c.2228G>A (p.Arg743Lys)
|
rs3922641
|
0.64479
|
NM_003114.5(SPAG1):c.2330T>C (p.Met777Thr)
|
rs6511
|
0.63802
|
NM_001364171.2(ODAD1):c.2019T>C (p.Ser673=)
|
rs7252988
|
0.59744
|
NM_001369.3(DNAH5):c.13348A>G (p.Ile4450Val)
|
rs3734110
|
0.53284
|
NM_001369.3(DNAH5):c.2229T>C (p.Asp743=)
|
rs1445823
|
0.53068
|
NM_017950.4(CCDC40):c.1890T>G (p.Ala630=)
|
rs35578653
|
0.51937
|
NM_012472.6(DNAAF11):c.695C>T (p.Thr232Ile)
|
rs2293979
|
0.51887
|
NM_178452.6(DNAAF1):c.1794C>G (p.Leu598=)
|
rs2288019
|
0.51384
|
NM_018076.5(ODAD2):c.2058T>C (p.Asn686=)
|
rs7893462
|
0.51292
|
NM_023036.6(DNAI2):c.1062A>G (p.Glu354=)
|
rs8073660
|
0.50417
|
NM_001369.3(DNAH5):c.2296A>T (p.Ile766Leu)
|
rs4701997
|
0.50396
|
NM_017950.4(CCDC40):c.3417A>G (p.Pro1139=)
|
rs2304854
|
0.49265
|
NM_001369.3(DNAH5):c.4152A>G (p.Thr1384=)
|
rs7703349
|
0.48933
|
NM_001369.3(DNAH5):c.13359A>G (p.Thr4453=)
|
rs3734111
|
0.48605
|
NM_001369.3(DNAH5):c.12401C>T (p.Ala4134Val)
|
rs30168
|
0.44440
|
NM_017802.4(DNAAF5):c.1895T>C (p.Val632Ala)
|
rs4720951
|
0.43572
|
NM_001369.3(DNAH5):c.1503T>C (p.Ile501=)
|
rs3213936
|
0.43495
|
NM_018139.3(DNAAF2):c.2303A>G (p.Asp768Gly)
|
rs9989177
|
0.40851
|
NM_001369.3(DNAH5):c.5115-5T>C
|
rs4429853
|
0.40224
|
NM_001369.3(DNAH5):c.6264C>T (p.Ala2088=)
|
rs1348689
|
0.40167
|
NM_001369.3(DNAH5):c.5172C>T (p.Ala1724=)
|
rs10041113
|
0.40077
|
NM_001369.3(DNAH5):c.12468A>C (p.Gly4156=)
|
rs30169
|
0.40053
|
NM_001369.3(DNAH5):c.71G>A (p.Gly24Glu)
|
rs1530496
|
0.39883
|
NM_001369.3(DNAH5):c.4374G>T (p.Arg1458=)
|
rs6554827
|
0.39500
|
NM_178452.6(DNAAF1):c.1178A>G (p.Lys393Arg)
|
rs17856705
|
0.37678
|
NM_017950.4(CCDC40):c.3210A>G (p.Thr1070=)
|
rs56407805
|
0.35335
|
NM_001369.3(DNAH5):c.1672A>G (p.Thr558Ala)
|
rs1530498
|
0.35253
|
NM_001369.3(DNAH5):c.10473G>A (p.Thr3491=)
|
rs2401809
|
0.34864
|
NM_181426.2(CCDC39):c.1359C>T (p.Ser453=)
|
rs6769457
|
0.33560
|
NM_023036.6(DNAI2):c.865-5A>G
|
rs8076337
|
0.32904
|
NM_001369.3(DNAH5):c.10140A>G (p.Glu3380=)
|
rs6554812
|
0.30832
|
NM_178452.6(DNAAF1):c.1505C>T (p.Pro502Leu)
|
rs11644164
|
0.30535
|
NM_001256715.2(DNAAF3):c.1056G>A (p.Pro352=)
|
rs891187
|
0.29351
|
NM_003114.5(SPAG1):c.2715G>A (p.Ser905=)
|
rs1788190
|
0.28744
|
NM_178452.6(DNAAF1):c.1898T>C (p.Leu633Ser)
|
rs2288020
|
0.28680
|
NM_178452.6(DNAAF1):c.2024G>C (p.Ser675Thr)
|
rs2288023
|
0.28462
|
NM_178452.6(DNAAF1):c.1976T>C (p.Leu659Pro)
|
rs2288022
|
0.28412
|
NM_016616.5(NME8):c.177C>T (p.Asp59=)
|
rs2598044
|
0.28287
|
NM_016616.5(NME8):c.128G>A (p.Arg43Lys)
|
rs2722372
|
0.28270
|
NM_001256715.2(DNAAF3):c.666T>C (p.Ala222=)
|
rs7260320
|
0.27073
|
NM_016616.5(NME8):c.1479A>T (p.Ile493=)
|
rs41276027
|
0.25198
|
NM_016616.5(NME8):c.1478T>C (p.Ile493Thr)
|
rs56128139
|
0.24911
|
NM_001256715.2(DNAAF3):c.875A>G (p.Glu292Gly)
|
rs2365725
|
0.24847
|
NM_001369.3(DNAH5):c.3258T>C (p.Leu1086=)
|
rs10057007
|
0.24415
|
NM_001369.3(DNAH5):c.8586G>T (p.Leu2862Phe)
|
rs10513155
|
0.23716
|
NM_016616.5(NME8):c.1603T>C (p.Leu535=)
|
rs3213975
|
0.22683
|
NM_001364171.2(ODAD1):c.666-4G>A
|
rs56177753
|
0.22521
|
NM_001364171.2(ODAD1):c.1514C>T (p.Pro505Leu)
|
rs35461177
|
0.22486
|
NM_001369.3(DNAH5):c.7388A>G (p.Gln2463Arg)
|
rs10078391
|
0.20605
|
NM_012144.4(DNAI1):c.1003G>A (p.Val335Ile)
|
rs11793196
|
0.20136
|
NM_017950.4(CCDC40):c.677-4C>G
|
rs2289530
|
0.19337
|
NM_181426.2(CCDC39):c.2397G>A (p.Val799=)
|
rs7612917
|
0.19015
|
NM_001010892.3(RSPH4A):c.1667G>A (p.Arg556His)
|
rs6927567
|
0.18606
|
NM_001364171.2(ODAD1):c.918C>T (p.Asp306=)
|
rs2242463
|
0.17921
|
NM_001364171.2(ODAD1):c.696G>T (p.Leu232=)
|
rs28582401
|
0.17887
|
NM_023036.6(DNAI2):c.1483G>A (p.Val495Ile)
|
rs28725418
|
0.17197
|
NM_003114.5(SPAG1):c.991G>A (p.Glu331Lys)
|
rs17335870
|
0.16498
|
NM_003114.5(SPAG1):c.1059_1060insGAC (p.Lys353_Ser354insAsp)
|
rs56246127
|
0.16465
|
NM_178452.6(DNAAF1):c.1975C>G (p.Leu659Val)
|
rs2288021
|
0.16313
|
NM_012472.6(DNAAF11):c.1397T>C (p.Ile466Thr)
|
rs9297853
|
0.15090
|
NM_001364171.2(ODAD1):c.1606G>T (p.Ala536Ser)
|
rs61747754
|
0.14598
|
NM_181426.2(CCDC39):c.1248A>G (p.Glu416=)
|
rs2338436
|
0.14399
|
NM_017802.4(DNAAF5):c.1269C>T (p.Ser423=)
|
rs73036225
|
0.14212
|
NM_016616.5(NME8):c.840A>G (p.Arg280=)
|
rs62001868
|
0.13953
|
NM_023036.6(DNAI2):c.834C>T (p.Thr278=)
|
rs34159194
|
0.12720
|
NM_018076.5(ODAD2):c.1238G>A (p.Arg413Gln)
|
rs7920186
|
0.12038
|
NM_017950.4(CCDC40):c.2323G>A (p.Val775Met)
|
rs60684213
|
0.11874
|
NM_001034853.2(RPGR):c.1164G>A (p.Ala388=)
|
rs1801686
|
0.11576
|
NM_001010892.3(RSPH4A):c.1879A>C (p.Asn627His)
|
rs9488991
|
0.11561
|
NM_001369.3(DNAH5):c.11372C>T (p.Thr3791Ile)
|
rs17263496
|
0.10158
|
NM_017950.4(CCDC40):c.873C>T (p.Phe291=)
|
rs2289531
|
0.10068
|
NM_001369.3(DNAH5):c.12658A>G (p.Thr4220Ala)
|
rs2277046
|
0.09802
|
NM_001034853.2(RPGR):c.1697G>A (p.Gly566Glu)
|
rs1801688
|
0.09526
|
NM_001034853.2(RPGR):c.1274G>A (p.Arg425Lys)
|
rs1801687
|
0.09261
|
NM_181426.2(CCDC39):c.2301G>A (p.Leu767=)
|
rs11914833
|
0.09202
|
NM_018076.5(ODAD2):c.1237C>G (p.Arg413Gly)
|
rs57067036
|
0.09166
|
NM_016616.5(NME8):c.219G>A (p.Val73=)
|
rs3213976
|
0.08740
|
NM_017950.4(CCDC40):c.1889C>T (p.Ala630Val)
|
rs61749058
|
0.08699
|
NM_001010892.3(RSPH4A):c.446C>G (p.Thr149Ser)
|
rs13213314
|
0.08023
|
NM_178452.6(DNAAF1):c.1296G>C (p.Glu432Asp)
|
rs9972733
|
0.07717
|
NM_018076.5(ODAD2):c.1028T>C (p.Ile343Thr)
|
rs4405206
|
0.07261
|
NM_001256715.2(DNAAF3):c.510A>G (p.Val170=)
|
rs56726774
|
0.06586
|
NM_001256715.2(DNAAF3):c.327A>G (p.Arg109=)
|
rs3848618
|
0.06221
|
NM_001256715.2(DNAAF3):c.1001T>C (p.Leu334Pro)
|
rs890871
|
0.06104
|
NM_152732.5(RSPH9):c.781G>A (p.Val261Ile)
|
rs16896629
|
0.06068
|
NM_001034853.2(RPGR):c.1291A>G (p.Ile431Val)
|
rs62635003
|
0.05955
|
NM_001364171.2(ODAD1):c.1176G>A (p.Ser392=)
|
rs34540645
|
0.05955
|
NM_178452.6(DNAAF1):c.1161C>G (p.Asp387Glu)
|
rs36062234
|
0.05873
|
NM_001256715.2(DNAAF3):c.529G>A (p.Gly177Ser)
|
rs58824375
|
0.05620
|
NM_017950.4(CCDC40):c.507G>A (p.Ser169=)
|
rs2885349
|
0.05290
|
NM_178452.6(DNAAF1):c.1848G>A (p.Ala616=)
|
rs76108116
|
0.04969
|
NM_023036.6(DNAI2):c.1053G>A (p.Thr351=)
|
rs34392071
|
0.04853
|
NM_001364171.2(ODAD1):c.2024C>T (p.Ser675Leu)
|
rs74925056
|
0.04566
|
NM_017950.4(CCDC40):c.1338C>T (p.Leu446=)
|
rs61734950
|
0.04478
|
NM_001369.3(DNAH5):c.13462C>A (p.Pro4488Thr)
|
rs113425437
|
0.03898
|
NM_181426.2(CCDC39):c.472C>G (p.Leu158Val)
|
rs57838737
|
0.03845
|
NM_017802.4(DNAAF5):c.72G>A (p.Ala24=)
|
rs9719797
|
0.03818
|
NM_003114.5(SPAG1):c.669A>G (p.Gly223=)
|
rs35592493
|
0.03738
|
NM_178452.6(DNAAF1):c.988C>A (p.Arg330=)
|
rs112191420
|
0.03681
|
NM_016616.5(NME8):c.1013T>C (p.Ile338Thr)
|
rs62001870
|
0.03618
|
NM_178452.6(DNAAF1):c.1077G>A (p.Ala359=)
|
rs35504640
|
0.03388
|
NM_001034853.2(RPGR):c.223A>G (p.Ile75Val)
|
rs111631988
|
0.03363
|
NM_001364171.2(ODAD1):c.247C>T (p.Arg83Trp)
|
rs16981988
|
0.03160
|
NM_178452.6(DNAAF1):c.919C>G (p.Gln307Glu)
|
rs111472069
|
0.03033
|
NM_017950.4(CCDC40):c.2868G>A (p.Lys956=)
|
rs1982243
|
0.02985
|
NM_001010892.3(RSPH4A):c.2099C>T (p.Ala700Val)
|
rs9488992
|
0.02977
|
NM_012144.4(DNAI1):c.1460T>G (p.Val487Gly)
|
rs11999454
|
0.02853
|
NM_018076.5(ODAD2):c.2359C>T (p.Arg787Cys)
|
rs35242712
|
0.02826
|
NM_001369.3(DNAH5):c.1772T>G (p.Leu591Arg)
|
rs35090077
|
0.02695
|
NM_178452.6(DNAAF1):c.1303G>A (p.Asp435Asn)
|
rs149158199
|
0.02685
|
NM_000328.3(RPGR):c.2302C>A (p.Pro768Thr)
|
rs34117835
|
0.02675
|
NM_001369.3(DNAH5):c.1395C>T (p.Ser465=)
|
rs34580014
|
0.02672
|
NM_181426.2(CCDC39):c.545C>G (p.Thr182Ser)
|
rs112738198
|
0.02615
|
NM_017950.4(CCDC40):c.504G>A (p.Pro168=)
|
rs74000351
|
0.02597
|
NM_001369.3(DNAH5):c.12708T>C (p.Gly4236=)
|
rs61744054
|
0.02551
|
NM_001369.3(DNAH5):c.9522G>A (p.Thr3174=)
|
rs35233147
|
0.02485
|
NM_001364171.2(ODAD1):c.1097G>A (p.Arg366His)
|
rs35361179
|
0.02467
|
NM_001364171.2(ODAD1):c.598-5C>A
|
rs10416590
|
0.02325
|
NM_012472.6(DNAAF11):c.283C>T (p.Leu95=)
|
rs74599901
|
0.02261
|
NM_001369.3(DNAH5):c.8898G>A (p.Thr2966=)
|
rs111995400
|
0.02235
|
NM_018076.5(ODAD2):c.3121G>T (p.Ala1041Ser)
|
rs3737184
|
0.02212
|
NM_001369.3(DNAH5):c.7274G>A (p.Arg2425His)
|
rs35900306
|
0.02176
|
NM_001369.3(DNAH5):c.4431C>T (p.Ser1477=)
|
rs74451896
|
0.02161
|
NM_012144.4(DNAI1):c.378A>G (p.Glu126=)
|
rs3818577
|
0.02063
|
NM_001369.3(DNAH5):c.13071C>T (p.Ala4357=)
|
rs10077457
|
0.02009
|
NM_001034853.2(RPGR):c.552G>T (p.Gln184His)
|
rs5963403
|
0.02007
|
NM_018076.5(ODAD2):c.1272C>T (p.Ser424=)
|
rs111982349
|
0.01920
|
NM_181426.2(CCDC39):c.2230C>G (p.Gln744Glu)
|
rs61733579
|
0.01895
|
NM_001034853.2(RPGR):c.1598C>T (p.Thr533Met)
|
rs41312104
|
0.01885
|
NM_178452.6(DNAAF1):c.228C>T (p.His76=)
|
rs61743547
|
0.01842
|
NM_017950.4(CCDC40):c.2255T>C (p.Leu752Pro)
|
rs117203086
|
0.01796
|
NM_012144.4(DNAI1):c.297A>G (p.Gln99=)
|
rs77344166
|
0.01778
|
NM_001364171.2(ODAD1):c.1071G>A (p.Glu357=)
|
rs79967289
|
0.01703
|
NM_016616.4(NME8):c.271-27C>T
|
rs117149381
|
0.01701
|
NM_017950.4(CCDC40):c.2604C>T (p.Phe868=)
|
rs61749027
|
0.01693
|
NM_001364171.2(ODAD1):c.1632C>T (p.Ala544=)
|
rs73585332
|
0.01673
|
NM_001364171.2(ODAD1):c.1737C>T (p.Pro579=)
|
rs13346323
|
0.01656
|
NM_001277115.2(DNAH11):c.9098T>C (p.Ile3033Thr)
|
rs28751578
|
0.01640
|
NM_017950.4(CCDC40):c.1131C>T (p.Cys377=)
|
rs74692882
|
0.01622
|
NM_017950.4(CCDC40):c.1466G>T (p.Ser489Ile)
|
rs61739354
|
0.01613
|
NM_001010892.3(RSPH4A):c.731G>A (p.Arg244His)
|
rs41289942
|
0.01592
|
NM_012472.6(DNAAF11):c.609C>T (p.Asn203=)
|
rs35956157
|
0.01575
|
NM_017950.4(CCDC40):c.946G>A (p.Ala316Thr)
|
rs61998241
|
0.01575
|
NM_001369.3(DNAH5):c.2683G>A (p.Glu895Lys)
|
rs76229167
|
0.01551
|
NM_001369.3(DNAH5):c.3301G>A (p.Val1101Met)
|
rs61747516
|
0.01505
|
NM_001369.3(DNAH5):c.3016A>G (p.Ser1006Gly)
|
rs16902886
|
0.01470
|
NM_001277115.2(DNAH11):c.8969G>A (p.Arg2990His)
|
rs72657371
|
0.01466
|
NM_001277115.2(DNAH11):c.9018G>A (p.Thr3006=)
|
rs72657372
|
0.01452
|
NM_017950.4(CCDC40):c.1449C>T (p.Thr483=)
|
rs116824266
|
0.01438
|
NM_018076.5(ODAD2):c.2979C>T (p.Asp993=)
|
rs74555138
|
0.01400
|
NM_001369.3(DNAH5):c.3241A>G (p.Met1081Val)
|
rs16902880
|
0.01375
|
NM_018139.3(DNAAF2):c.707C>T (p.Pro236Leu)
|
rs74050429
|
0.01349
|
NM_001277115.2(DNAH11):c.9337-9T>C
|
rs72657378
|
0.01332
|
NM_017802.4(DNAAF5):c.921C>A (p.Ser307Arg)
|
rs113374052
|
0.01326
|
NM_001277115.2(DNAH11):c.6547-5C>G
|
rs115200161
|
0.01266
|
NM_018139.3(DNAAF2):c.78C>T (p.Ala26=)
|
rs7156297
|
0.01255
|
NM_001369.3(DNAH5):c.5658C>T (p.Tyr1886=)
|
rs6880264
|
0.01240
|
NM_023036.6(DNAI2):c.1131G>A (p.Pro377=)
|
rs59499600
|
0.01236
|
NM_178452.6(DNAAF1):c.780G>C (p.Gln260His)
|
rs112051327
|
0.01197
|
NM_003611.3(OFD1):c.828+364A>G
|
rs16979176
|
0.01179
|
NM_001010892.3(RSPH4A):c.1489G>A (p.Val497Ile)
|
rs117169123
|
0.01149
|
NM_001277115.2(DNAH11):c.12561T>G (p.Asp4187Glu)
|
rs148429731
|
0.01140
|
NM_001364171.2(ODAD1):c.825C>T (p.Pro275=)
|
rs34628933
|
0.01136
|
NM_181426.2(CCDC39):c.604G>A (p.Ala202Thr)
|
rs61733578
|
0.01102
|
NM_178452.6(DNAAF1):c.1769C>T (p.Thr590Met)
|
rs34777958
|
0.01064
|
NM_012144.4(DNAI1):c.978A>C (p.Gln326His)
|
rs16931555
|
0.01063
|
NM_018139.3(DNAAF2):c.144C>A (p.Asn48Lys)
|
rs116185352
|
0.01062
|
NM_181426.2(CCDC39):c.2278A>G (p.Thr760Ala)
|
rs79386936
|
0.01017
|
NM_017950.4(CCDC40):c.2682G>A (p.Ala894=)
|
rs4889815
|
0.01013
|
NM_001369.3(DNAH5):c.3987A>G (p.Lys1329=)
|
rs146191243
|
0.01011
|
NM_017950.4(CCDC40):c.2784C>T (p.Ile928=)
|
rs118143944
|
0.00955
|
NM_023036.6(DNAI2):c.590A>T (p.Asp197Val)
|
rs35636875
|
0.00940
|
NM_001364171.2(ODAD1):c.2027G>A (p.Ser676Asn)
|
rs74351635
|
0.00931
|
NM_023036.6(DNAI2):c.234G>A (p.Glu78=)
|
rs35985071
|
0.00904
|
NM_001364171.2(ODAD1):c.1636G>A (p.Ala546Thr)
|
rs114111020
|
0.00902
|
NM_001277115.2(DNAH11):c.4455A>G (p.Leu1485=)
|
rs79119693
|
0.00895
|
NM_001369.3(DNAH5):c.4836G>A (p.Val1612=)
|
rs34671383
|
0.00895
|
NM_017802.4(DNAAF5):c.1056C>T (p.Leu352=)
|
rs77384933
|
0.00888
|
NM_001369.3(DNAH5):c.6703T>G (p.Leu2235Val)
|
rs115109673
|
0.00884
|
NM_001256715.2(DNAAF3):c.-5+5G>T
|
rs114393069
|
0.00871
|
NM_017950.4(CCDC40):c.1123A>C (p.Lys375Gln)
|
rs61734951
|
0.00868
|
NM_003611.3(OFD1):c.828+1031T>A
|
rs7064913
|
0.00860
|
NM_017950.4(CCDC40):c.3340G>A (p.Val1114Met)
|
rs61740509
|
0.00839
|
NM_001369.3(DNAH5):c.1647C>G (p.Asn549Lys)
|
rs139160176
|
0.00831
|
NM_001256715.2(DNAAF3):c.6C>T (p.Thr2=)
|
rs150362958
|
0.00827
|
NM_012472.6(DNAAF11):c.1162G>A (p.Gly388Ser)
|
rs77289466
|
0.00827
|
NM_181426.2(CCDC39):c.2660dup (p.Ser888fs)
|
rs200353947
|
0.00823
|
NM_001277115.2(DNAH11):c.13176G>C (p.Thr4392=)
|
rs79449551
|
0.00817
|
NM_001256715.2(DNAAF3):c.1405G>A (p.Val469Met)
|
rs114601492
|
0.00815
|
NM_001369.3(DNAH5):c.5224T>C (p.Leu1742=)
|
rs35963491
|
0.00809
|
NM_001364171.2(ODAD1):c.1672G>A (p.Ala558Thr)
|
rs115124604
|
0.00808
|
NM_001034853.2(RPGR):c.1367A>G (p.Gln456Arg)
|
rs144635565
|
0.00806
|
NM_018076.5(ODAD2):c.2805C>A (p.Asn935Lys)
|
rs35181927
|
0.00796
|
NM_018139.3(DNAAF2):c.1367C>T (p.Pro456Leu)
|
rs137991407
|
0.00785
|
NM_001277115.2(DNAH11):c.7812-18C>G
|
rs147865931
|
0.00771
|
NM_001369.3(DNAH5):c.6919G>A (p.Val2307Ile)
|
rs74604638
|
0.00744
|
NM_003114.5(SPAG1):c.596G>C (p.Gly199Ala)
|
rs35305781
|
0.00733
|
NM_001277115.2(DNAH11):c.11200A>C (p.Lys3734Gln)
|
rs114257197
|
0.00719
|
NM_001364171.2(ODAD1):c.1214G>A (p.Arg405Gln)
|
rs73585360
|
0.00719
|
NM_017950.4(CCDC40):c.2608C>T (p.Arg870Cys)
|
rs61749025
|
0.00718
|
NM_001034853.2(RPGR):c.1033A>G (p.Asn345Asp)
|
rs41305223
|
0.00714
|
NM_003114.5(SPAG1):c.1586T>C (p.Met529Thr)
|
rs78436093
|
0.00714
|
NM_001369.3(DNAH5):c.12923A>G (p.Tyr4308Cys)
|
rs115075057
|
0.00713
|
NM_001277115.2(DNAH11):c.7441-19A>G
|
rs10247099
|
0.00707
|
NM_001369.3(DNAH5):c.13467G>A (p.Gln4489=)
|
rs140498500
|
0.00702
|
NM_001277115.2(DNAH11):c.8188G>T (p.Gly2730Cys)
|
rs28549882
|
0.00700
|
NM_001010892.3(RSPH4A):c.1731A>G (p.Lys577=)
|
rs73765819
|
0.00679
|
NM_018076.5(ODAD2):c.717G>A (p.Pro239=)
|
rs150780082
|
0.00675
|
NM_001034853.2(RPGR):c.1296A>T (p.Glu432Asp)
|
rs28718831
|
0.00670
|
NM_152732.5(RSPH9):c.263C>T (p.Ala88Val)
|
rs35110984
|
0.00656
|
NM_001277115.2(DNAH11):c.7332G>A (p.Pro2444=)
|
rs28370951
|
0.00650
|
NM_018139.3(DNAAF2):c.1626G>C (p.Arg542=)
|
rs35763780
|
0.00645
|
NM_003611.3(OFD1):c.714T>C (p.Tyr238=)
|
rs139848884
|
0.00637
|
NM_003611.3(OFD1):c.1020G>A (p.Glu340=)
|
rs5979959
|
0.00630
|
NM_017950.4(CCDC40):c.1303G>A (p.Glu435Lys)
|
rs62000409
|
0.00619
|
NM_003611.3(OFD1):c.828+460A>C
|
rs140641349
|
0.00612
|
NM_012144.4(DNAI1):c.179C>T (p.Ala60Val)
|
rs16931549
|
0.00609
|
NM_178452.6(DNAAF1):c.736G>A (p.Asp246Asn)
|
rs151099638
|
0.00606
|
NM_178452.6(DNAAF1):c.2134C>G (p.Pro712Ala)
|
rs4150187
|
0.00601
|
NM_018139.3(DNAAF2):c.728A>C (p.Glu243Ala)
|
rs112044935
|
0.00596
|
NM_001364171.2(ODAD1):c.1275C>T (p.Asp425=)
|
rs35930441
|
0.00595
|
NM_023036.6(DNAI2):c.1431C>G (p.Thr477=)
|
rs144035254
|
0.00581
|
NM_012144.4(DNAI1):c.1604C>A (p.Thr535Asn)
|
rs76334696
|
0.00575
|
NM_001277115.2(DNAH11):c.4598T>G (p.Ile1533Ser)
|
rs73682656
|
0.00571
|
NM_001277115.2(DNAH11):c.3105G>A (p.Glu1035=)
|
rs191011620
|
0.00567
|
NM_018076.5(ODAD2):c.612T>A (p.Asp204Glu)
|
rs61729354
|
0.00567
|
NM_001369.3(DNAH5):c.1858C>A (p.Gln620Lys)
|
rs34076967
|
0.00563
|
NM_001369.3(DNAH5):c.5115-4G>T
|
rs141141086
|
0.00551
|
NM_001277115.2(DNAH11):c.8266T>C (p.Cys2756Arg)
|
rs74667361
|
0.00545
|
NM_003611.3(OFD1):c.1264A>G (p.Lys422Glu)
|
rs61746932
|
0.00542
|
NM_017802.4(DNAAF5):c.1678C>T (p.Arg560Cys)
|
rs73258248
|
0.00535
|
NM_023036.6(DNAI2):c.1462C>T (p.Leu488Phe)
|
rs61736879
|
0.00529
|
NM_001277115.2(DNAH11):c.693-9T>C
|
rs72655973
|
0.00515
|
NM_001256715.2(DNAAF3):c.323-4del
|
rs201986299
|
0.00503
|
NM_001369.3(DNAH5):c.9150C>T (p.Ser3050=)
|
rs77477793
|
0.00496
|
NM_018139.3(DNAAF2):c.1406G>A (p.Cys469Tyr)
|
rs150737854
|
0.00495
|
NM_001277115.2(DNAH11):c.1535T>A (p.Met512Lys)
|
rs72655984
|
0.00494
|
NM_001277115.2(DNAH11):c.1885C>T (p.Pro629Ser)
|
rs150966144
|
0.00490
|
NM_181426.2(CCDC39):c.2432G>A (p.Arg811His)
|
rs61733583
|
0.00485
|
NM_017950.4(CCDC40):c.630C>T (p.Ser210=)
|
rs117419007
|
0.00483
|
NM_001277115.2(DNAH11):c.8362C>G (p.His2788Asp)
|
rs147478795
|
0.00481
|
NM_017802.4(DNAAF5):c.1319T>G (p.Ile440Ser)
|
rs148065657
|
0.00477
|
NM_018139.3(DNAAF2):c.1494G>A (p.Ser498=)
|
rs2985688
|
0.00470
|
NM_178452.6(DNAAF1):c.2109A>G (p.Gly703=)
|
rs35214636
|
0.00469
|
NM_001277115.2(DNAH11):c.10027-10T>C
|
rs116368970
|
0.00445
|
NM_001010892.3(RSPH4A):c.-12_-11insCCA
|
rs576610212
|
0.00443
|
NM_001010892.3(RSPH4A):c.-13T>A
|
rs567530388
|
0.00443
|
NM_001364171.2(ODAD1):c.1788C>T (p.His596=)
|
rs147072026
|
0.00442
|
NM_001369.3(DNAH5):c.5707C>T (p.Leu1903=)
|
rs7719896
|
0.00439
|
NM_181426.2(CCDC39):c.233G>A (p.Arg78His)
|
rs115952495
|
0.00435
|
NM_178452.6(DNAAF1):c.1616T>C (p.Leu539Pro)
|
rs141149453
|
0.00430
|
NM_001277115.2(DNAH11):c.12644T>C (p.Ile4215Thr)
|
rs150663302
|
0.00428
|
NM_023036.6(DNAI2):c.747C>T (p.Gly249=)
|
rs148488355
|
0.00428
|
NM_001364171.2(ODAD1):c.730G>A (p.Glu244Lys)
|
rs114078313
|
0.00421
|
NM_001369.3(DNAH5):c.2253C>A (p.Asn751Lys)
|
rs115004914
|
0.00414
|
NM_001364171.2(ODAD1):c.856G>A (p.Gly286Arg)
|
rs73942222
|
0.00411
|
NM_001369.3(DNAH5):c.6062-4G>A
|
rs143392650
|
0.00406
|
NM_001277115.2(DNAH11):c.13495G>A (p.Glu4499Lys)
|
rs143362381
|
0.00403
|
NM_001277115.2(DNAH11):c.5270C>T (p.Ala1757Val)
|
rs115367126
|
0.00399
|
NM_001256715.2(DNAAF3):c.1248G>A (p.Val416=)
|
rs111250144
|
0.00398
|
NM_017950.4(CCDC40):c.631G>A (p.Asp211Asn)
|
rs150615436
|
0.00391
|
NM_016616.5(NME8):c.739G>A (p.Glu247Lys)
|
rs139516225
|
0.00383
|
NM_001277115.2(DNAH11):c.8478C>T (p.His2826=)
|
rs62445328
|
0.00381
|
NM_003611.3(OFD1):c.2663A>C (p.Lys888Thr)
|
rs149647255
|
0.00381
|
NM_018139.3(DNAAF2):c.1851C>T (p.Asn617=)
|
rs147090213
|
0.00373
|
NM_001364171.2(ODAD1):c.185G>A (p.Arg62His)
|
rs7248372
|
0.00372
|
NM_018076.5(ODAD2):c.1017C>T (p.Leu339=)
|
rs117723546
|
0.00371
|
NM_023036.6(DNAI2):c.124G>A (p.Val42Met)
|
rs151176313
|
0.00370
|
NM_023036.6(DNAI2):c.759G>A (p.Ala253=)
|
rs142656395
|
0.00370
|
NM_017950.4(CCDC40):c.2336G>A (p.Arg779His)
|
rs183809462
|
0.00368
|
NM_017950.4(CCDC40):c.3424T>C (p.Ser1142Pro)
|
rs148900528
|
0.00366
|
NM_001034853.2(RPGR):c.905G>C (p.Cys302Ser)
|
rs62640590
|
0.00361
|
NM_001010892.3(RSPH4A):c.144G>A (p.Gly48=)
|
rs112350099
|
0.00359
|
NM_001369.3(DNAH5):c.12465A>G (p.Gln4155=)
|
rs34924315
|
0.00359
|
NM_001277115.2(DNAH11):c.5185C>T (p.Pro1729Ser)
|
rs144106494
|
0.00357
|
NM_017950.4(CCDC40):c.1132G>A (p.Ala378Thr)
|
rs116795025
|
0.00354
|
NM_023036.6(DNAI2):c.949G>A (p.Ala317Thr)
|
rs145798624
|
0.00354
|
NM_001369.3(DNAH5):c.5281C>G (p.Arg1761Gly)
|
rs148891849
|
0.00351
|
NM_003114.5(SPAG1):c.877C>T (p.Arg293Trp)
|
rs138503542
|
0.00351
|
NM_003114.5(SPAG1):c.1584G>A (p.Ala528=)
|
rs35252724
|
0.00346
|
NM_178452.6(DNAAF1):c.1820T>C (p.Phe607Ser)
|
rs144628213
|
0.00340
|
NM_017802.4(DNAAF5):c.2472G>A (p.Leu824=)
|
rs114907681
|
0.00336
|
NM_001369.3(DNAH5):c.8757G>C (p.Glu2919Asp)
|
rs115776799
|
0.00334
|
NM_017950.4(CCDC40):c.3349G>A (p.Glu1117Lys)
|
rs145595957
|
0.00331
|
NM_001277115.2(DNAH11):c.188G>C (p.Gly63Ala)
|
rs6966525
|
0.00330
|
NM_001277115.2(DNAH11):c.5028A>G (p.Ala1676=)
|
rs75552110
|
0.00329
|
NM_181426.2(CCDC39):c.1073C>T (p.Thr358Ile)
|
rs183413880
|
0.00329
|
NM_023036.6(DNAI2):c.468-4G>T
|
rs146462823
|
0.00321
|
NM_012144.4(DNAI1):c.639G>A (p.Thr213=)
|
rs78865254
|
0.00320
|
NM_003114.5(SPAG1):c.1542G>A (p.Leu514=)
|
rs117747863
|
0.00319
|
NM_178452.6(DNAAF1):c.1227T>G (p.Gly409=)
|
rs148674729
|
0.00317
|
NM_181426.2(CCDC39):c.1433A>G (p.Gln478Arg)
|
rs115545935
|
0.00312
|
NM_017950.4(CCDC40):c.3408C>T (p.Leu1136=)
|
rs186591691
|
0.00309
|
NM_001277115.2(DNAH11):c.3237T>C (p.Leu1079=)
|
rs72657304
|
0.00308
|
NM_017950.4(CCDC40):c.1220T>C (p.Ile407Thr)
|
rs141185078
|
0.00304
|
NM_018076.5(ODAD2):c.2127C>T (p.Leu709=)
|
rs111586634
|
0.00303
|
NM_001277115.2(DNAH11):c.13163-19T>A
|
rs72658832
|
0.00299
|
NM_003611.3(OFD1):c.1923G>A (p.Glu641=)
|
rs145300245
|
0.00298
|
NM_017802.4(DNAAF5):c.1689T>C (p.Ile563=)
|
rs151227818
|
0.00296
|
NM_001277115.2(DNAH11):c.10391C>T (p.Thr3464Ile)
|
rs141112088
|
0.00293
|
NM_001010892.3(RSPH4A):c.675G>T (p.Ser225=)
|
rs79327004
|
0.00290
|
NM_003114.5(SPAG1):c.1414A>G (p.Ile472Val)
|
rs373038988
|
0.00288
|
NM_001369.3(DNAH5):c.10457T>C (p.Met3486Thr)
|
rs141651941
|
0.00285
|
NM_003114.5(SPAG1):c.1103C>T (p.Ala368Val)
|
rs752257877
|
0.00285
|
NM_018076.5(ODAD2):c.995A>G (p.Lys332Arg)
|
rs148930400
|
0.00285
|
NM_001369.3(DNAH5):c.5266G>A (p.Glu1756Lys)
|
rs116524991
|
0.00282
|
NM_017950.4(CCDC40):c.2017G>A (p.Asp673Asn)
|
rs115850223
|
0.00279
|
NM_001369.3(DNAH5):c.299G>C (p.Gly100Ala)
|
rs144236383
|
0.00278
|
NM_001364171.2(ODAD1):c.266G>C (p.Arg89Pro)
|
rs58966182
|
0.00277
|
NM_001369.3(DNAH5):c.4510G>C (p.Gly1504Arg)
|
rs143567667
|
0.00277
|
NM_017950.4(CCDC40):c.2785G>A (p.Gly929Ser)
|
rs59896146
|
0.00264
|
NM_001277115.2(DNAH11):c.555A>G (p.Ser185=)
|
rs143304361
|
0.00259
|
NM_017802.4(DNAAF5):c.2564A>G (p.Gln855Arg)
|
rs78491700
|
0.00255
|
NM_001369.3(DNAH5):c.8805G>C (p.Met2935Ile)
|
rs77874614
|
0.00250
|
NM_003114.5(SPAG1):c.1226C>G (p.Thr409Ser)
|
rs544372581
|
0.00250
|
NM_178452.6(DNAAF1):c.1496C>T (p.Pro499Leu)
|
rs112114400
|
0.00248
|
NM_018076.5(ODAD2):c.205G>C (p.Glu69Gln)
|
rs61729351
|
0.00246
|
NM_017950.4(CCDC40):c.334A>G (p.Thr112Ala)
|
rs201709592
|
0.00245
|
NM_001277115.2(DNAH11):c.11233G>A (p.Glu3745Lys)
|
rs182389910
|
0.00242
|
NM_016616.5(NME8):c.1405A>C (p.Ile469Leu)
|
rs147791304
|
0.00242
|
NM_001369.3(DNAH5):c.9681A>G (p.Lys3227=)
|
rs138639741
|
0.00241
|
NM_181426.2(CCDC39):c.2299T>C (p.Leu767=)
|
rs200913298
|
0.00238
|
NM_181426.2(CCDC39):c.1198G>T (p.Gly400Cys)
|
rs147383873
|
0.00236
|
NM_178452.6(DNAAF1):c.1245C>G (p.Thr415=)
|
rs147804813
|
0.00233
|
NM_018139.3(DNAAF2):c.1953A>G (p.Pro651=)
|
rs34352773
|
0.00232
|
NM_001369.3(DNAH5):c.12346A>G (p.Ile4116Val)
|
rs34920399
|
0.00228
|
NM_003611.3(OFD1):c.2044A>C (p.Ile682Leu)
|
rs148239437
|
0.00227
|
NM_181426.2(CCDC39):c.1008G>A (p.Lys336=)
|
rs79329972
|
0.00226
|
NM_018076.5(ODAD2):c.27G>A (p.Thr9=)
|
rs139724964
|
0.00224
|
NM_001010892.3(RSPH4A):c.1917-4A>G
|
rs201826366
|
0.00223
|
NM_001277115.2(DNAH11):c.7765G>A (p.Val2589Ile)
|
rs145239537
|
0.00220
|
NM_018139.3(DNAAF2):c.1405T>A (p.Cys469Ser)
|
rs202079418
|
0.00212
|
NM_001369.3(DNAH5):c.624C>T (p.Asn208=)
|
rs139640247
|
0.00206
|
NM_016616.5(NME8):c.388-3T>C
|
rs141307270
|
0.00205
|
NM_023036.6(DNAI2):c.1408G>A (p.Gly470Ser)
|
rs115299472
|
0.00205
|
NM_017950.4(CCDC40):c.1275C>T (p.Ala425=)
|
rs145013523
|
0.00203
|
NM_001277115.2(DNAH11):c.10782G>A (p.Pro3594=)
|
rs72657400
|
0.00200
|
NM_003114.5(SPAG1):c.2479C>T (p.His827Tyr)
|
rs6510
|
0.00200
|
NM_017950.4(CCDC40):c.1673C>G (p.Thr558Arg)
|
rs191736683
|
0.00200
|
NM_017950.4(CCDC40):c.1739A>G (p.Gln580Arg)
|
rs200815406
|
0.00200
|
NM_017802.4(DNAAF5):c.477G>A (p.Ala159=)
|
rs78581255
|
0.00199
|
NM_181426.2(CCDC39):c.1363-3del
|
rs551191744
|
0.00199
|
NM_018076.5(ODAD2):c.2342G>T (p.Gly781Val)
|
rs145619075
|
0.00196
|
NM_001010892.3(RSPH4A):c.2101G>C (p.Glu701Gln)
|
rs140660854
|
0.00194
|
NM_001277115.2(DNAH11):c.13076G>A (p.Arg4359Gln)
|
rs113653972
|
0.00194
|
NM_001369.3(DNAH5):c.9355A>G (p.Lys3119Glu)
|
rs76690956
|
0.00194
|
NM_016616.5(NME8):c.126C>T (p.Cys42=)
|
rs138311368
|
0.00190
|
NM_001277115.2(DNAH11):c.3870G>C (p.Glu1290Asp)
|
rs200954442
|
0.00189
|
NM_012144.4(DNAI1):c.81+5del
|
rs200411544
|
0.00189
|
NM_001034853.2(RPGR):c.732G>A (p.Lys244=)
|
rs62638654
|
0.00188
|
NM_001256715.2(DNAAF3):c.832G>A (p.Ala278Thr)
|
rs200775946
|
0.00187
|
NM_001369.3(DNAH5):c.10294G>T (p.Val3432Leu)
|
rs143251588
|
0.00185
|
NM_001369.3(DNAH5):c.10323G>A (p.Met3441Ile)
|
rs149133845
|
0.00185
|
NM_001369.3(DNAH5):c.3514C>A (p.Gln1172Lys)
|
rs141168110
|
0.00184
|
NM_003114.5(SPAG1):c.2714C>T (p.Ser905Leu)
|
rs142031266
|
0.00181
|
NM_001369.3(DNAH5):c.9941G>A (p.Arg3314His)
|
rs143858741
|
0.00180
|
NM_017802.4(DNAAF5):c.1245C>T (p.Ala415=)
|
rs146922072
|
0.00180
|
NM_018076.5(ODAD2):c.390A>G (p.Arg130=)
|
rs12777433
|
0.00180
|
NM_178452.6(DNAAF1):c.1664A>T (p.Asp555Val)
|
rs145973397
|
0.00178
|
NM_181426.2(CCDC39):c.2534T>C (p.Ile845Thr)
|
rs139560004
|
0.00177
|
NM_001369.3(DNAH5):c.9244C>A (p.Leu3082Ile)
|
rs147372600
|
0.00176
|
NM_018076.5(ODAD2):c.2982C>T (p.Ala994=)
|
rs148295264
|
0.00176
|
NM_178452.6(DNAAF1):c.303G>C (p.Lys101Asn)
|
rs140386513
|
0.00174
|
NM_001369.3(DNAH5):c.3734G>A (p.Arg1245His)
|
rs77939839
|
0.00172
|
NM_001364171.2(ODAD1):c.1481C>T (p.Pro494Leu)
|
rs148823991
|
0.00171
|
NM_003611.3(OFD1):c.2033C>G (p.Ala678Gly)
|
rs143954823
|
0.00170
|
NM_017950.4(CCDC40):c.180G>A (p.Ala60=)
|
rs185006459
|
0.00169
|
NM_001277115.2(DNAH11):c.12175G>A (p.Ala4059Thr)
|
rs142372794
|
0.00168
|
NM_017802.4(DNAAF5):c.711T>C (p.Phe237=)
|
rs543710960
|
0.00168
|
NM_178452.6(DNAAF1):c.1567G>A (p.Val523Ile)
|
rs148387367
|
0.00167
|
NM_001277115.2(DNAH11):c.10976C>T (p.Ala3659Val)
|
rs150631721
|
0.00166
|
NM_001369.3(DNAH5):c.3363T>G (p.Ser1121=)
|
rs58266192
|
0.00163
|
NM_017950.4(CCDC40):c.2251C>A (p.Pro751Thr)
|
rs141343307
|
0.00161
|
NM_023036.6(DNAI2):c.1660G>A (p.Asp554Asn)
|
rs117932646
|
0.00161
|
NM_001369.3(DNAH5):c.1206T>A (p.Asn402Lys)
|
rs140782270
|
0.00158
|
NM_001369.3(DNAH5):c.1356G>A (p.Lys452=)
|
rs144748846
|
0.00157
|
NM_012144.4(DNAI1):c.1902C>T (p.His634=)
|
rs139197229
|
0.00156
|
NM_017802.4(DNAAF5):c.1432G>A (p.Glu478Lys)
|
rs118139460
|
0.00154
|
NM_001277115.2(DNAH11):c.3933A>G (p.Pro1311=)
|
rs138071140
|
0.00153
|
NM_001369.3(DNAH5):c.6529G>C (p.Glu2177Gln)
|
rs116069486
|
0.00153
|
NM_001277115.2(DNAH11):c.10350C>G (p.Thr3450=)
|
rs200603138
|
0.00151
|
NM_213607.3(DNAAF19):c.627G>A (p.Glu209=)
|
rs200474997
|
0.00150
|
NM_001277115.2(DNAH11):c.3466G>A (p.Gly1156Arg)
|
rs183521702
|
0.00149
|
NM_012472.6(DNAAF11):c.1343T>C (p.Ile448Thr)
|
rs78620801
|
0.00149
|
NM_018076.5(ODAD2):c.1207T>A (p.Ser403Thr)
|
rs150723128
|
0.00147
|
NM_001369.3(DNAH5):c.8845C>G (p.Gln2949Glu)
|
rs147688221
|
0.00146
|
NM_012144.4(DNAI1):c.47A>G (p.Gln16Arg)
|
rs148701985
|
0.00146
|
NM_001277115.2(DNAH11):c.6970C>G (p.Leu2324Val)
|
rs201323940
|
0.00145
|
NM_181426.2(CCDC39):c.272A>G (p.Gln91Arg)
|
rs201157338
|
0.00145
|
NM_181426.2(CCDC39):c.880A>G (p.Arg294Gly)
|
rs61733577
|
0.00145
|
NM_001364171.2(ODAD1):c.582C>T (p.Asp194=)
|
rs190978775
|
0.00144
|
NM_001277115.2(DNAH11):c.6067A>G (p.Ile2023Val)
|
rs72657339
|
0.00140
|
NM_001369.3(DNAH5):c.7998G>T (p.Glu2666Asp)
|
rs148720124
|
0.00139
|
NM_003114.5(SPAG1):c.2265A>T (p.Lys755Asn)
|
rs148883126
|
0.00138
|
NM_018076.5(ODAD2):c.1654A>C (p.Lys552Gln)
|
rs138205369
|
0.00137
|
NM_001010892.3(RSPH4A):c.1080G>C (p.Leu360Phe)
|
rs111375012
|
0.00135
|
NM_001277115.2(DNAH11):c.8151C>T (p.Phe2717=)
|
rs111301826
|
0.00135
|
NM_003114.5(SPAG1):c.1307C>T (p.Pro436Leu)
|
rs761617724
|
0.00134
|
NM_001369.3(DNAH5):c.6039A>C (p.Arg2013=)
|
rs112102932
|
0.00132
|
NC_000019.10:g.55166647A>G
|
rs200365972
|
0.00131
|
NM_001277115.2(DNAH11):c.2486G>A (p.Arg829His)
|
rs201261243
|
0.00129
|
NM_018076.5(ODAD2):c.883G>C (p.Val295Leu)
|
rs143215183
|
0.00128
|
NM_001369.3(DNAH5):c.13286G>A (p.Arg4429Gln)
|
rs61744047
|
0.00127
|
NM_001369.3(DNAH5):c.5944G>A (p.Ala1982Thr)
|
rs150814892
|
0.00127
|
NM_181426.2(CCDC39):c.1954C>T (p.Pro652Ser)
|
rs145506099
|
0.00127
|
NM_001010892.3(RSPH4A):c.1974A>G (p.Thr658=)
|
rs142977481
|
0.00126
|
NM_001369.3(DNAH5):c.1476G>A (p.Thr492=)
|
rs150994380
|
0.00124
|
NM_016616.5(NME8):c.-3T>C
|
rs184571218
|
0.00124
|
NM_017950.4(CCDC40):c.3046G>A (p.Val1016Ile)
|
rs117307093
|
0.00123
|
NM_213607.3(DNAAF19):c.461A>C (p.His154Pro)
|
rs145457535
|
0.00123
|
NM_001277115.2(DNAH11):c.4463C>T (p.Ser1488Phe)
|
rs200581574
|
0.00121
|
NM_001277115.2(DNAH11):c.13406G>A (p.Arg4469Lys)
|
rs183031009
|
0.00120
|
NM_001369.3(DNAH5):c.2443T>A (p.Leu815Met)
|
rs149654950
|
0.00119
|
NM_001369.3(DNAH5):c.12472C>T (p.Arg4158Trp)
|
rs3756672
|
0.00118
|
NM_001369.3(DNAH5):c.7065T>C (p.Asp2355=)
|
rs149045168
|
0.00118
|
NM_001369.3(DNAH5):c.8862G>T (p.Leu2954=)
|
rs145381989
|
0.00118
|
NM_017802.4(DNAAF5):c.2361C>T (p.Val787=)
|
rs140641290
|
0.00118
|
NM_178452.6(DNAAF1):c.1031-5A>T
|
rs79772571
|
0.00118
|
NM_001277115.2(DNAH11):c.2542G>A (p.Val848Met)
|
rs80328282
|
0.00117
|
NM_016616.5(NME8):c.1077A>G (p.Gln359=)
|
rs142516478
|
0.00116
|
NM_012472.6(DNAAF11):c.1293A>C (p.Ile431=)
|
rs139369647
|
0.00115
|
NM_018076.5(ODAD2):c.1228C>G (p.Gln410Glu)
|
rs531033796
|
0.00115
|
NM_023036.6(DNAI2):c.1572G>A (p.Lys524=)
|
rs2279122
|
0.00115
|
NM_001369.3(DNAH5):c.2355C>T (p.Leu785=)
|
rs112238091
|
0.00114
|
NM_181426.2(CCDC39):c.1865A>G (p.Glu622Gly)
|
rs200277460
|
0.00114
|
NM_001277115.2(DNAH11):c.7267-5C>G
|
rs370674737
|
0.00113
|
NM_001369.3(DNAH5):c.3775G>A (p.Ala1259Thr)
|
rs112217391
|
0.00113
|
NM_023036.6(DNAI2):c.598A>C (p.Ile200Leu)
|
rs144786630
|
0.00113
|
NM_001369.3(DNAH5):c.3650T>C (p.Ile1217Thr)
|
rs112124692
|
0.00112
|
NM_178452.6(DNAAF1):c.2107G>A (p.Gly703Arg)
|
rs4150188
|
0.00112
|
NM_001369.3(DNAH5):c.8002G>A (p.Gly2668Arg)
|
rs147236883
|
0.00111
|
NM_003114.5(SPAG1):c.398G>A (p.Gly133Asp)
|
rs147984546
|
0.00111
|
NM_181426.2(CCDC39):c.2409T>C (p.Cys803=)
|
rs201601768
|
0.00111
|
NM_001277115.2(DNAH11):c.12174C>T (p.Ala4058=)
|
rs185794149
|
0.00110
|
NM_001256715.2(DNAAF3):c.1255C>T (p.Arg419Trp)
|
rs201929981
|
0.00109
|
NM_001277115.2(DNAH11):c.12370T>G (p.Leu4124Val)
|
rs151156028
|
0.00109
|
NM_001369.3(DNAH5):c.1251C>T (p.Thr417=)
|
rs112911055
|
0.00109
|
NM_018076.5(ODAD2):c.1353T>C (p.Tyr451=)
|
rs149432727
|
0.00109
|
NM_001277115.2(DNAH11):c.8279A>G (p.Gln2760Arg)
|
rs72657366
|
0.00108
|
NM_018076.5(ODAD2):c.3086C>T (p.Ser1029Phe)
|
rs138588942
|
0.00108
|
NM_001369.3(DNAH5):c.11437C>T (p.Arg3813Trp)
|
rs140948493
|
0.00107
|
NM_178452.6(DNAAF1):c.1750G>A (p.Asp584Asn)
|
rs142345677
|
0.00105
|
NM_001277115.2(DNAH11):c.4202A>G (p.Gln1401Arg)
|
rs199629774
|
0.00103
|
NM_001364171.2(ODAD1):c.1425C>T (p.Asp475=)
|
rs150259992
|
0.00103
|
NM_001369.3(DNAH5):c.3021G>T (p.Leu1007Phe)
|
rs188638970
|
0.00103
|
NM_018076.5(ODAD2):c.2983G>A (p.Asp995Asn)
|
rs149981194
|
0.00103
|
NM_181426.2(CCDC39):c.1781C>T (p.Thr594Ile)
|
rs140505857
|
0.00102
|
NM_017950.4(CCDC40):c.648C>T (p.Asp216=)
|
rs375350606
|
0.00099
|
NM_017950.4(CCDC40):c.850G>C (p.Asp284His)
|
rs201042940
|
0.00099
|
NM_012472.6(DNAAF11):c.863C>A (p.Pro288His)
|
rs76147813
|
0.00098
|
NM_017802.4(DNAAF5):c.2345A>G (p.Tyr782Cys)
|
rs61755909
|
0.00098
|
NM_018139.3(DNAAF2):c.2187A>G (p.Gln729=)
|
rs147110554
|
0.00097
|
NM_001369.3(DNAH5):c.88C>T (p.Arg30Trp)
|
rs114220185
|
0.00096
|
NM_016616.5(NME8):c.610A>G (p.Ile204Val)
|
rs146777129
|
0.00094
|
NM_018139.3(DNAAF2):c.1459C>T (p.Arg487Cys)
|
rs141192321
|
0.00094
|
NM_012472.6(DNAAF11):c.31C>T (p.Arg11Trp)
|
rs115536785
|
0.00093
|
NM_017802.4(DNAAF5):c.888C>T (p.Asp296=)
|
rs137860295
|
0.00093
|
NM_001277115.2(DNAH11):c.3765C>T (p.Asp1255=)
|
rs190062687
|
0.00092
|
NM_001277115.2(DNAH11):c.9773A>G (p.Tyr3258Cys)
|
rs182808328
|
0.00092
|
NM_001277115.2(DNAH11):c.9795G>T (p.Glu3265Asp)
|
rs200614172
|
0.00092
|
NM_023036.6(DNAI2):c.197G>T (p.Arg66Leu)
|
rs147470752
|
0.00092
|
NM_001364171.2(ODAD1):c.808G>A (p.Asp270Asn)
|
rs145629439
|
0.00090
|
NM_017802.4(DNAAF5):c.385G>C (p.Val129Leu)
|
rs1031852692
|
0.00090
|
NM_018076.5(ODAD2):c.1709G>A (p.Arg570Gln)
|
rs140569195
|
0.00088
|
NM_018139.3(DNAAF2):c.2176A>G (p.Thr726Ala)
|
rs80237479
|
0.00088
|
NM_000328.3(RPGR):c.2324T>C (p.Ile775Thr)
|
rs145289281
|
0.00087
|
NM_001364171.2(ODAD1):c.1866C>T (p.His622=)
|
rs138562401
|
0.00087
|
NM_001369.3(DNAH5):c.12349A>G (p.Ile4117Val)
|
rs145501076
|
0.00086
|
NM_001369.3(DNAH5):c.8731A>G (p.Asn2911Asp)
|
rs142852982
|
0.00086
|
NM_016616.5(NME8):c.271-3T>C
|
rs191137504
|
0.00086
|
NM_178452.6(DNAAF1):c.113G>C (p.Gly38Ala)
|
rs200992452
|
0.00086
|
NM_001369.3(DNAH5):c.6752C>T (p.Thr2251Met)
|
rs146392250
|
0.00085
|
NM_178452.6(DNAAF1):c.1354C>A (p.Pro452Thr)
|
rs145680314
|
0.00085
|
NM_003114.5(SPAG1):c.413T>C (p.Leu138Pro)
|
rs141605537
|
0.00084
|
NM_016616.5(NME8):c.1317C>T (p.Thr439=)
|
rs144273423
|
0.00084
|
NM_012472.6(DNAAF11):c.232A>G (p.Ile78Val)
|
rs146175329
|
0.00083
|
NM_017950.4(CCDC40):c.3249C>T (p.Tyr1083=)
|
rs145998578
|
0.00083
|
NM_023036.6(DNAI2):c.754G>A (p.Val252Met)
|
rs140326154
|
0.00083
|
NM_001277115.2(DNAH11):c.11374A>G (p.Ile3792Val)
|
rs201700629
|
0.00081
|
NM_001277115.2(DNAH11):c.470G>A (p.Gly157Glu)
|
rs185011953
|
0.00081
|
NM_001369.3(DNAH5):c.4373G>A (p.Arg1458Gln)
|
rs61747551
|
0.00081
|
NM_023036.6(DNAI2):c.1715C>T (p.Pro572Leu)
|
rs151241589
|
0.00081
|
NM_001256715.2(DNAAF3):c.1589C>T (p.Pro530Leu)
|
rs200673226
|
0.00080
|
NM_001256715.2(DNAAF3):c.284G>A (p.Ser95Asn)
|
rs148116155
|
0.00080
|
NM_001277115.2(DNAH11):c.7325A>G (p.Lys2442Arg)
|
rs114286628
|
0.00080
|
NM_018076.5(ODAD2):c.2935G>A (p.Val979Met)
|
rs150655393
|
0.00080
|
NM_178452.6(DNAAF1):c.546C>G (p.Asn182Lys)
|
rs144018942
|
0.00080
|
NM_001277115.2(DNAH11):c.12969G>C (p.Gln4323His)
|
rs191802172
|
0.00078
|
NM_001364171.2(ODAD1):c.522G>A (p.Ala174=)
|
rs200360777
|
0.00078
|
NM_001369.3(DNAH5):c.342C>T (p.Phe114=)
|
rs145920072
|
0.00078
|
NM_001277115.2(DNAH11):c.11402C>G (p.Pro3801Arg)
|
rs146362213
|
0.00077
|
NM_001369.3(DNAH5):c.4807C>A (p.Pro1603Thr)
|
rs369137751
|
0.00077
|
NM_017950.4(CCDC40):c.2958C>T (p.Leu986=)
|
rs78945041
|
0.00076
|
NM_018076.5(ODAD2):c.198A>C (p.Ser66=)
|
rs143338979
|
0.00076
|
NM_001369.3(DNAH5):c.1715T>G (p.Leu572Trp)
|
rs137878131
|
0.00074
|
NM_012472.6(DNAAF11):c.719T>C (p.Leu240Ser)
|
rs147849568
|
0.00074
|
NM_001277115.2(DNAH11):c.12473G>A (p.Arg4158Gln)
|
rs182165265
|
0.00073
|
NM_001277115.2(DNAH11):c.13548G>A (p.Ala4516=)
|
rs147454485
|
0.00073
|
NM_001277115.2(DNAH11):c.12328C>A (p.Pro4110Thr)
|
rs200821339
|
0.00072
|
NM_001364171.2(ODAD1):c.1650C>T (p.Asp550=)
|
rs74722451
|
0.00072
|
NM_001364171.2(ODAD1):c.2056G>A (p.Val686Ile)
|
rs144128773
|
0.00072
|
NM_001369.3(DNAH5):c.1329G>A (p.Gln443=)
|
rs141621142
|
0.00071
|
NM_017802.4(DNAAF5):c.1687A>G (p.Ile563Val)
|
rs75829847
|
0.00071
|
NM_017802.4(DNAAF5):c.1718C>T (p.Ser573Leu)
|
rs199552751
|
0.00071
|
NM_017950.4(CCDC40):c.1144G>A (p.Glu382Lys)
|
rs2289532
|
0.00071
|
NM_001277115.2(DNAH11):c.695C>T (p.Pro232Leu)
|
rs200454446
|
0.00070
|
NM_001369.3(DNAH5):c.10367C>T (p.Ala3456Val)
|
rs149956015
|
0.00070
|
NM_001369.3(DNAH5):c.4509C>T (p.Thr1503=)
|
rs138157585
|
0.00070
|
NM_001277115.2(DNAH11):c.11277C>G (p.Ile3759Met)
|
rs202148932
|
0.00069
|
NM_001277115.2(DNAH11):c.2166A>G (p.Pro722=)
|
rs191266255
|
0.00069
|
NM_001277115.2(DNAH11):c.9939G>A (p.Val3313=)
|
rs200349268
|
0.00069
|
NM_012144.4(DNAI1):c.1177G>A (p.Val393Met)
|
rs141089746
|
0.00068
|
NM_018139.3(DNAAF2):c.731C>A (p.Ala244Glu)
|
rs112700048
|
0.00068
|
NM_018139.3(DNAAF2):c.1584T>A (p.Asn528Lys)
|
rs144077436
|
0.00067
|
NM_001364171.2(ODAD1):c.1974C>T (p.Gly658=)
|
rs150335194
|
0.00066
|
NM_023036.6(DNAI2):c.1188G>A (p.Arg396=)
|
rs139935771
|
0.00066
|
NM_001364171.2(ODAD1):c.1796T>C (p.Phe599Ser)
|
rs144225230
|
0.00065
|
NM_003114.5(SPAG1):c.2601A>G (p.Ser867=)
|
rs138311726
|
0.00065
|
NM_178452.6(DNAAF1):c.1499C>G (p.Pro500Arg)
|
rs138838276
|
0.00065
|
NM_017802.4(DNAAF5):c.1707G>T (p.Arg569=)
|
rs180946359
|
0.00064
|
NM_001010892.3(RSPH4A):c.307G>T (p.Asp103Tyr)
|
rs139745647
|
0.00063
|
NM_001364171.2(ODAD1):c.1608G>A (p.Ala536=)
|
rs200022799
|
0.00063
|
NM_012144.4(DNAI1):c.1173C>G (p.Ile391Met)
|
rs151097256
|
0.00063
|
NM_012144.4(DNAI1):c.1878G>A (p.Ala626=)
|
rs146244319
|
0.00063
|
NM_017802.4(DNAAF5):c.781G>A (p.Val261Ile)
|
rs138915052
|
0.00063
|
NM_017950.4(CCDC40):c.51G>A (p.Ser17=)
|
rs141650385
|
0.00063
|
NM_017950.4(CCDC40):c.699T>C (p.Asp233=)
|
rs9893189
|
0.00063
|
NM_178452.6(DNAAF1):c.432C>T (p.Ile144=)
|
rs143312655
|
0.00063
|
NM_001277115.2(DNAH11):c.10877C>A (p.Pro3626Gln)
|
rs543364800
|
0.00062
|
NM_001277115.2(DNAH11):c.12612G>T (p.Pro4204=)
|
rs73683005
|
0.00062
|
NM_001277115.2(DNAH11):c.9449G>A (p.Arg3150Gln)
|
rs181785201
|
0.00062
|
NM_017950.4(CCDC40):c.2968G>A (p.Asp990Asn)
|
rs200958035
|
0.00062
|
NM_181426.2(CCDC39):c.1861C>T (p.Arg621Trp)
|
rs771462228
|
0.00061
|
NM_001364171.2(ODAD1):c.555C>T (p.Ile185=)
|
rs114554656
|
0.00060
|
NM_001369.3(DNAH5):c.1121T>C (p.Ile374Thr)
|
rs147499872
|
0.00060
|
NM_017802.4(DNAAF5):c.640C>G (p.Gln214Glu)
|
rs149980915
|
0.00060
|
NM_018139.3(DNAAF2):c.423C>T (p.Val141=)
|
rs373251065
|
0.00060
|
NM_001277115.2(DNAH11):c.661A>T (p.Met221Leu)
|
rs147525173
|
0.00059
|
NM_001369.3(DNAH5):c.12878G>A (p.Ser4293Asn)
|
rs140279971
|
0.00058
|
NM_001369.3(DNAH5):c.13175T>G (p.Phe4392Cys)
|
rs145400611
|
0.00058
|
NM_012472.6(DNAAF11):c.1245A>G (p.Lys415=)
|
rs149631064
|
0.00058
|
NM_018076.5(ODAD2):c.583A>T (p.Ser195Cys)
|
rs138425193
|
0.00058
|
NM_001277115.2(DNAH11):c.10740C>G (p.Arg3580=)
|
rs114916492
|
0.00057
|
NM_181426.2(CCDC39):c.603C>T (p.Ser201=)
|
rs200422639
|
0.00057
|
NM_001369.3(DNAH5):c.11231C>A (p.Thr3744Asn)
|
rs529225111
|
0.00056
|
NM_012144.4(DNAI1):c.1923C>T (p.His641=)
|
rs145218397
|
0.00056
|
NM_018139.3(DNAAF2):c.263G>A (p.Cys88Tyr)
|
rs549457480
|
0.00056
|
NM_001277115.2(DNAH11):c.3634T>C (p.Tyr1212His)
|
rs143830019
|
0.00054
|
NM_012144.4(DNAI1):c.40C>T (p.His14Tyr)
|
rs146501326
|
0.00054
|
NM_017802.4(DNAAF5):c.718G>A (p.Gly240Arg)
|
rs142141660
|
0.00054
|
NM_017950.4(CCDC40):c.2061G>A (p.Arg687=)
|
rs189617808
|
0.00054
|
NM_017950.4(CCDC40):c.2226C>T (p.Ser742=)
|
rs72849355
|
0.00054
|
NM_018139.3(DNAAF2):c.982G>A (p.Asp328Asn)
|
rs201566715
|
0.00054
|
NM_178452.6(DNAAF1):c.1300G>A (p.Gly434Arg)
|
rs117114021
|
0.00054
|
NM_181426.2(CCDC39):c.1459C>G (p.Leu487Val)
|
rs200651695
|
0.00054
|
NM_181426.2(CCDC39):c.900T>A (p.His300Gln)
|
rs201684898
|
0.00054
|
NM_001277115.2(DNAH11):c.8093T>C (p.Leu2698Ser)
|
rs187533108
|
0.00053
|
NM_003114.5(SPAG1):c.1759C>T (p.Pro587Ser)
|
rs141555196
|
0.00053
|
NM_012144.4(DNAI1):c.370C>T (p.Arg124Cys)
|
rs116938457
|
0.00053
|
NM_018076.5(ODAD2):c.2218T>C (p.Trp740Arg)
|
rs148764188
|
0.00053
|
NM_178452.6(DNAAF1):c.1988C>T (p.Pro663Leu)
|
rs147393144
|
0.00053
|
NM_001277115.2(DNAH11):c.4434C>T (p.His1478=)
|
rs139082783
|
0.00052
|
NM_001369.3(DNAH5):c.3777G>A (p.Ala1259=)
|
rs144893234
|
0.00052
|
NM_001369.3(DNAH5):c.5643G>A (p.Thr1881=)
|
rs150429110
|
0.00052
|
NM_012472.6(DNAAF11):c.1391C>T (p.Pro464Leu)
|
rs139131485
|
0.00052
|
NM_001277115.2(DNAH11):c.213G>T (p.Gly71=)
|
rs542513475
|
0.00051
|
NM_001277115.2(DNAH11):c.5691C>T (p.Thr1897=)
|
rs200388712
|
0.00051
|
NM_001369.3(DNAH5):c.1198G>A (p.Val400Met)
|
rs144575803
|
0.00051
|
NM_018139.3(DNAAF2):c.1463G>A (p.Gly488Glu)
|
rs200121200
|
0.00051
|
NM_178452.6(DNAAF1):c.1495C>A (p.Pro499Thr)
|
rs201519478
|
0.00050
|
NM_213607.3(DNAAF19):c.275C>T (p.Pro92Leu)
|
rs142342712
|
0.00050
|
NM_003611.3(OFD1):c.2398A>G (p.Arg800Gly)
|
rs139406798
|
0.00049
|
NM_178452.6(DNAAF1):c.685C>T (p.His229Tyr)
|
rs35496754
|
0.00049
|
NM_001277115.2(DNAH11):c.10472G>A (p.Arg3491His)
|
rs370932895
|
0.00048
|
NM_023036.6(DNAI2):c.1533G>T (p.Glu511Asp)
|
rs150710001
|
0.00048
|
NM_018076.5(ODAD2):c.378T>C (p.Val126=)
|
rs144145876
|
0.00047
|
NM_001034853.2(RPGR):c.222C>T (p.Ala74=)
|
rs143521661
|
0.00046
|
NM_001277115.2(DNAH11):c.7553T>C (p.Val2518Ala)
|
rs141807661
|
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_012144.4(DNAI1):c.389-1G>C
|
rs200488444
|
0.00046
|
NM_012472.6(DNAAF11):c.949A>G (p.Ile317Val)
|
rs146067670
|
0.00046
|
NM_018076.5(ODAD2):c.2334G>A (p.Gly778=)
|
rs138219785
|
0.00046
|
NM_018076.5(ODAD2):c.2592A>G (p.Pro864=)
|
rs145042199
|
0.00046
|
NM_181426.2(CCDC39):c.1818T>C (p.His606=)
|
rs199503571
|
0.00046
|
NM_181426.2(CCDC39):c.1969G>A (p.Glu657Lys)
|
rs200459402
|
0.00046
|
NM_018139.3(DNAAF2):c.1595A>G (p.Glu532Gly)
|
rs143210369
|
0.00045
|
NM_001034853.2(RPGR):c.1399C>A (p.Gln467Lys)
|
rs774321455
|
0.00044
|
NM_001277115.2(DNAH11):c.4576T>C (p.Leu1526=)
|
rs199559539
|
0.00044
|
NM_001277115.2(DNAH11):c.4734G>C (p.Met1578Ile)
|
rs202009583
|
0.00044
|
NM_001277115.2(DNAH11):c.4961C>G (p.Ala1654Gly)
|
rs376708182
|
0.00044
|
NM_001277115.2(DNAH11):c.8888C>A (p.Ser2963Tyr)
|
rs374033085
|
0.00044
|
NM_001364171.2(ODAD1):c.566G>A (p.Arg189His)
|
rs569554228
|
0.00044
|
NM_001369.3(DNAH5):c.3534C>T (p.Asn1178=)
|
rs151274810
|
0.00044
|
NM_001369.3(DNAH5):c.917G>A (p.Ser306Asn)
|
rs144128250
|
0.00044
|
NM_018139.3(DNAAF2):c.1417C>T (p.Arg473Trp)
|
rs200327783
|
0.00044
|
NM_023036.6(DNAI2):c.1309T>C (p.Phe437Leu)
|
rs150182125
|
0.00044
|
NM_178452.6(DNAAF1):c.1299C>T (p.Asp433=)
|
rs141074491
|
0.00044
|
NM_181426.2(CCDC39):c.2795G>A (p.Ser932Asn)
|
rs199649763
|
0.00044
|
NM_001256715.2(DNAAF3):c.-4G>A
|
rs200851565
|
0.00043
|
NM_001277115.2(DNAH11):c.569A>T (p.Tyr190Phe)
|
rs201793112
|
0.00043
|
NM_003611.3(OFD1):c.1694T>C (p.Val565Ala)
|
rs529916753
|
0.00043
|
NM_012144.4(DNAI1):c.1365A>G (p.Ser455=)
|
rs376496298
|
0.00043
|
NM_181426.2(CCDC39):c.1971G>T (p.Glu657Asp)
|
rs111451119
|
0.00043
|
NM_001277115.2(DNAH11):c.4185G>A (p.Arg1395=)
|
rs113853066
|
0.00042
|
NM_001277115.2(DNAH11):c.8521A>G (p.Ser2841Gly)
|
rs199789835
|
0.00042
|
NM_001369.3(DNAH5):c.1114A>G (p.Thr372Ala)
|
rs140227610
|
0.00042
|
NM_001369.3(DNAH5):c.1250C>G (p.Thr417Ser)
|
rs149202369
|
0.00042
|
NM_012144.4(DNAI1):c.1145G>A (p.Ser382Asn)
|
rs141690214
|
0.00042
|
NM_023036.6(DNAI2):c.1380G>T (p.Val460=)
|
rs148947094
|
0.00042
|
NM_001256715.2(DNAAF3):c.1252G>A (p.Val418Met)
|
rs201231901
|
0.00041
|
NM_003114.5(SPAG1):c.957T>A (p.Val319=)
|
rs146528350
|
0.00041
|
NM_018076.5(ODAD2):c.2272A>G (p.Ile758Val)
|
rs143059966
|
0.00041
|
NM_178452.6(DNAAF1):c.1698+1G>A
|
rs139519641
|
0.00041
|
NM_178452.6(DNAAF1):c.1990A>C (p.Thr664Pro)
|
rs199680570
|
0.00041
|
NM_001010892.3(RSPH4A):c.584C>G (p.Pro195Arg)
|
rs141226759
|
0.00040
|
NM_001277115.2(DNAH11):c.5519C>T (p.Thr1840Ile)
|
rs374351807
|
0.00040
|
NM_001369.3(DNAH5):c.8224+18G>A
|
rs183622722
|
0.00040
|
NM_003611.3(OFD1):c.919G>A (p.Val307Ile)
|
rs139444990
|
0.00040
|
NM_017802.4(DNAAF5):c.1208G>A (p.Arg403Gln)
|
rs149778130
|
0.00040
|
NM_017802.4(DNAAF5):c.1796G>A (p.Gly599Glu)
|
rs149924115
|
0.00040
|
NM_018139.3(DNAAF2):c.1785G>A (p.Val595=)
|
rs141689467
|
0.00040
|
NM_018139.3(DNAAF2):c.58G>C (p.Val20Leu)
|
rs572322476
|
0.00040
|
NM_001034853.2(RPGR):c.1414+5C>T
|
rs367627674
|
0.00039
|
NM_001277115.2(DNAH11):c.5138C>T (p.Thr1713Met)
|
rs202034810
|
0.00039
|
NM_001369.3(DNAH5):c.11476C>T (p.Leu3826Phe)
|
rs146750552
|
0.00039
|
NM_001369.3(DNAH5):c.4525G>A (p.Val1509Met)
|
rs140345677
|
0.00039
|
NM_017802.4(DNAAF5):c.550C>A (p.Arg184Ser)
|
rs878855039
|
0.00039
|
NM_001277115.2(DNAH11):c.727A>G (p.Ile243Val)
|
rs189000268
|
0.00038
|
NM_001369.3(DNAH5):c.962C>T (p.Ser321Leu)
|
rs201077964
|
0.00038
|
NM_003114.5(SPAG1):c.2717A>G (p.Asp906Gly)
|
rs199727770
|
0.00038
|
NM_017950.4(CCDC40):c.3130T>A (p.Phe1044Ile)
|
rs377222257
|
0.00038
|
NM_001277115.2(DNAH11):c.11884G>A (p.Val3962Met)
|
rs199719583
|
0.00037
|
NM_001277115.2(DNAH11):c.5671C>T (p.Pro1891Ser)
|
rs201704416
|
0.00037
|
NM_003114.5(SPAG1):c.205G>A (p.Ala69Thr)
|
rs149271265
|
0.00037
|
NM_001256715.2(DNAAF3):c.1414G>A (p.Gly472Arg)
|
rs201919395
|
0.00036
|
NM_001277115.2(DNAH11):c.13305C>T (p.Gly4435=)
|
rs150682314
|
0.00036
|
NM_001277115.2(DNAH11):c.6302A>G (p.Asn2101Ser)
|
rs201618995
|
0.00036
|
NM_001277115.2(DNAH11):c.9022A>G (p.Ile3008Val)
|
rs369862935
|
0.00036
|
NM_001369.3(DNAH5):c.3179A>T (p.Lys1060Met)
|
rs145672251
|
0.00036
|
NM_001369.3(DNAH5):c.4924G>A (p.Gly1642Arg)
|
rs150050027
|
0.00036
|
NM_001369.3(DNAH5):c.8804T>C (p.Met2935Thr)
|
rs750633804
|
0.00036
|
NM_012472.6(DNAAF11):c.1096A>G (p.Lys366Glu)
|
rs201309011
|
0.00036
|
NM_017802.4(DNAAF5):c.1063A>G (p.Arg355Gly)
|
rs201998366
|
0.00036
|
NM_017950.4(CCDC40):c.1824G>A (p.Thr608=)
|
rs371383125
|
0.00036
|
NM_018076.5(ODAD2):c.1277G>A (p.Ser426Asn)
|
rs143513621
|
0.00036
|
NM_018076.5(ODAD2):c.960G>A (p.Gln320=)
|
rs146568420
|
0.00036
|
NM_023036.6(DNAI2):c.1574C>T (p.Ala525Val)
|
rs145602856
|
0.00036
|
NM_001277115.2(DNAH11):c.1397A>C (p.Lys466Thr)
|
rs147912535
|
0.00035
|
NM_001277115.2(DNAH11):c.4868T>C (p.Ile1623Thr)
|
rs113948334
|
0.00035
|
NM_001277115.2(DNAH11):c.6274-5T>C
|
rs74365849
|
0.00035
|
NM_001369.3(DNAH5):c.6409C>A (p.Leu2137Ile)
|
rs181884470
|
0.00035
|
NM_001369.3(DNAH5):c.7531C>T (p.Arg2511Trp)
|
rs564040169
|
0.00035
|
NM_017802.4(DNAAF5):c.1185G>A (p.Thr395=)
|
rs139675128
|
0.00035
|
NM_178452.6(DNAAF1):c.1506G>A (p.Pro502=)
|
rs373515859
|
0.00035
|
NM_001034853.2(RPGR):c.141T>G (p.Ser47=)
|
rs62638631
|
0.00034
|
NM_001256715.2(DNAAF3):c.1285C>T (p.Arg429Trp)
|
rs77322382
|
0.00034
|
NM_001277115.2(DNAH11):c.1749T>A (p.Val583=)
|
rs368294823
|
0.00034
|
NM_001369.3(DNAH5):c.1126G>T (p.Ala376Ser)
|
rs201469505
|
0.00034
|
NM_003611.3(OFD1):c.276T>C (p.Ser92=)
|
rs201675886
|
0.00034
|
NM_012144.4(DNAI1):c.1948C>T (p.Arg650Cys)
|
rs140820295
|
0.00034
|
NM_012472.6(DNAAF11):c.*5T>G
|
rs144068846
|
0.00034
|
NM_017950.4(CCDC40):c.1248C>T (p.Arg416=)
|
rs375199947
|
0.00034
|
NM_017950.4(CCDC40):c.2892G>A (p.Ala964=)
|
rs146360951
|
0.00034
|
NM_017950.4(CCDC40):c.32C>G (p.Ser11Cys)
|
rs111822347
|
0.00034
|
NM_001010892.3(RSPH4A):c.1001C>A (p.Thr334Lys)
|
rs149463940
|
0.00033
|
NM_001034853.2(RPGR):c.30T>A (p.Asp10Glu)
|
rs202156474
|
0.00033
|
NM_001256715.2(DNAAF3):c.705C>G (p.Asp235Glu)
|
rs371668705
|
0.00033
|
NM_001277115.2(DNAH11):c.2419G>C (p.Asp807His)
|
rs369849556
|
0.00033
|
NM_001277115.2(DNAH11):c.5266A>G (p.Ile1756Val)
|
rs201257328
|
0.00033
|
NM_001369.3(DNAH5):c.4258A>G (p.Asn1420Asp)
|
rs201841311
|
0.00033
|
NM_001369.3(DNAH5):c.894C>G (p.Asn298Lys)
|
rs116995413
|
0.00033
|
NM_017802.4(DNAAF5):c.969C>A (p.Asp323Glu)
|
rs201264312
|
0.00033
|
NM_181426.2(CCDC39):c.2057A>G (p.Asn686Ser)
|
rs201586263
|
0.00033
|
NM_000328.3(RPGR):c.2323A>G (p.Ile775Val)
|
rs147649203
|
0.00032
|
NM_001256715.2(DNAAF3):c.1413C>T (p.Pro471=)
|
rs377325487
|
0.00032
|
NM_001369.3(DNAH5):c.3843T>C (p.Tyr1281=)
|
rs146492613
|
0.00032
|
NM_001369.3(DNAH5):c.7892C>T (p.Thr2631Met)
|
rs375200875
|
0.00032
|
NM_012144.4(DNAI1):c.551A>G (p.Lys184Arg)
|
rs146203427
|
0.00032
|
NM_016616.5(NME8):c.84C>T (p.Gly28=)
|
rs376117068
|
0.00032
|
NM_017802.4(DNAAF5):c.221C>A (p.Ala74Glu)
|
rs756968294
|
0.00032
|
NM_017802.4(DNAAF5):c.231G>A (p.Leu77=)
|
rs781235373
|
0.00032
|
NM_178452.6(DNAAF1):c.1187G>T (p.Gly396Val)
|
rs149958269
|
0.00032
|
NM_181426.2(CCDC39):c.267T>C (p.Ile89=)
|
rs61733581
|
0.00032
|
NM_000328.3(RPGR):c.1906G>T (p.Asp636Tyr)
|
rs770101727
|
0.00031
|
NM_001277115.2(DNAH11):c.13399G>A (p.Val4467Met)
|
rs200609513
|
0.00031
|
NM_001277115.2(DNAH11):c.2912A>G (p.Asp971Gly)
|
rs147700251
|
0.00031
|
NM_001277115.2(DNAH11):c.4791T>C (p.Tyr1597=)
|
rs748873603
|
0.00031
|
NM_001277115.2(DNAH11):c.5132A>G (p.Gln1711Arg)
|
rs189432084
|
0.00031
|
NM_001277115.2(DNAH11):c.5434G>A (p.Val1812Met)
|
rs376798792
|
0.00031
|
NM_001369.3(DNAH5):c.1631C>T (p.Thr544Ile)
|
rs118026202
|
0.00031
|
NM_001369.3(DNAH5):c.9549G>A (p.Gln3183=)
|
rs147865593
|
0.00031
|
NM_017802.4(DNAAF5):c.933C>T (p.Asp311=)
|
rs139879811
|
0.00031
|
NM_018139.3(DNAAF2):c.1329C>T (p.His443=)
|
rs190354993
|
0.00031
|
NM_001277115.2(DNAH11):c.12899G>A (p.Arg4300His)
|
rs377388499
|
0.00030
|
NM_001277115.2(DNAH11):c.2682C>T (p.Leu894=)
|
rs149926178
|
0.00030
|
NM_001369.3(DNAH5):c.2200C>G (p.Leu734Val)
|
rs139180192
|
0.00030
|
NM_003611.3(OFD1):c.2524G>A (p.Gly842Arg)
|
rs146047094
|
0.00030
|
NM_012472.6(DNAAF11):c.32G>A (p.Arg11Gln)
|
rs149894438
|
0.00030
|
NM_017802.4(DNAAF5):c.792G>A (p.Ala264=)
|
rs113952995
|
0.00030
|
NM_017950.4(CCDC40):c.1138G>A (p.Ala380Thr)
|
rs199564182
|
0.00030
|
NM_017950.4(CCDC40):c.2387C>G (p.Ala796Gly)
|
rs139435501
|
0.00030
|
NM_181426.2(CCDC39):c.1797A>C (p.Arg599=)
|
rs114128856
|
0.00030
|
NM_001277115.2(DNAH11):c.3184G>T (p.Asp1062Tyr)
|
rs371880343
|
0.00029
|
NM_001277115.2(DNAH11):c.5152A>G (p.Ile1718Val)
|
rs137855415
|
0.00029
|
NM_001277115.2(DNAH11):c.794G>A (p.Arg265His)
|
rs192989152
|
0.00029
|
NM_001369.3(DNAH5):c.5413C>T (p.Arg1805Cys)
|
rs142155986
|
0.00029
|
NM_001369.3(DNAH5):c.9461A>C (p.Asp3154Ala)
|
rs149187750
|
0.00029
|
NM_012144.4(DNAI1):c.1104C>T (p.Tyr368=)
|
rs140711767
|
0.00029
|
NM_012144.4(DNAI1):c.276G>A (p.Lys92=)
|
rs140983343
|
0.00029
|
NM_017950.4(CCDC40):c.248del (p.Ala83fs)
|
rs397515393
|
0.00029
|
NM_023036.6(DNAI2):c.1516C>A (p.Arg506=)
|
rs141581673
|
0.00029
|
NM_023036.6(DNAI2):c.828G>A (p.Thr276=)
|
rs149918986
|
0.00029
|
NM_001277115.2(DNAH11):c.5875G>A (p.Ala1959Thr)
|
rs373077301
|
0.00028
|
NM_001277115.2(DNAH11):c.8973G>A (p.Thr2991=)
|
rs200978576
|
0.00028
|
NM_178452.6(DNAAF1):c.1645-19G>A
|
rs192432193
|
0.00028
|
NM_213607.3(DNAAF19):c.473C>T (p.Ala158Val)
|
rs148834205
|
0.00028
|
NM_001277115.2(DNAH11):c.13309C>T (p.Arg4437Cys)
|
rs200466467
|
0.00027
|
NM_001277115.2(DNAH11):c.195C>T (p.Arg65=)
|
rs369285943
|
0.00027
|
NM_001277115.2(DNAH11):c.4059G>C (p.Val1353=)
|
rs372066048
|
0.00027
|
NM_001277115.2(DNAH11):c.6264C>T (p.Pro2088=)
|
rs187936691
|
0.00027
|
NM_001364171.2(ODAD1):c.565C>T (p.Arg189Cys)
|
rs538588580
|
0.00027
|
NM_001364171.2(ODAD1):c.705C>T (p.Arg235=)
|
rs368483838
|
0.00027
|
NM_001369.3(DNAH5):c.8247C>T (p.Tyr2749=)
|
rs367946282
|
0.00027
|
NM_001369.3(DNAH5):c.9995G>A (p.Arg3332Lys)
|
rs138968139
|
0.00027
|
NM_003611.3(OFD1):c.54A>G (p.Glu18=)
|
rs147114577
|
0.00027
|
NM_178452.6(DNAAF1):c.1294G>A (p.Glu432Lys)
|
rs144990549
|
0.00027
|
NM_178452.6(DNAAF1):c.155G>A (p.Gly52Asp)
|
rs146725281
|
0.00027
|
NM_178452.6(DNAAF1):c.628G>A (p.Val210Met)
|
rs76598454
|
0.00027
|
NM_181426.2(CCDC39):c.2557C>T (p.Arg853Cys)
|
rs201097154
|
0.00027
|
NM_001369.3(DNAH5):c.11234A>G (p.His3745Arg)
|
rs36088710
|
0.00026
|
NM_001369.3(DNAH5):c.382G>A (p.Val128Met)
|
rs200553244
|
0.00026
|
NM_001369.3(DNAH5):c.4961G>A (p.Arg1654Gln)
|
rs150868941
|
0.00026
|
NM_003114.5(SPAG1):c.713C>T (p.Ala238Val)
|
rs755306741
|
0.00026
|
NM_003611.3(OFD1):c.2376G>A (p.Glu792=)
|
rs183241931
|
0.00026
|
NM_018076.5(ODAD2):c.2879G>A (p.Gly960Asp)
|
rs139577934
|
0.00026
|
NM_178452.6(DNAAF1):c.1350G>A (p.Pro450=)
|
rs148990251
|
0.00026
|
NM_178452.6(DNAAF1):c.619C>G (p.Leu207Val)
|
rs139743343
|
0.00026
|
NM_001034853.2(RPGR):c.1721C>T (p.Thr574Met)
|
rs202013664
|
0.00025
|
NM_001277115.2(DNAH11):c.11804C>T (p.Pro3935Leu)
|
rs72658814
|
0.00025
|
NM_001369.3(DNAH5):c.12367C>T (p.His4123Tyr)
|
rs151145750
|
0.00025
|
NM_001369.3(DNAH5):c.12523G>A (p.Val4175Met)
|
rs148123430
|
0.00025
|
NM_016616.5(NME8):c.1169G>C (p.Arg390Thr)
|
rs202221051
|
0.00025
|
NM_017802.4(DNAAF5):c.1815C>G (p.Val605=)
|
rs148419527
|
0.00025
|
NM_018139.3(DNAAF2):c.1129G>C (p.Gly377Arg)
|
rs760933549
|
0.00025
|
NM_023036.6(DNAI2):c.1065G>A (p.Lys355=)
|
rs551163932
|
0.00025
|
NM_152732.5(RSPH9):c.512G>A (p.Arg171Gln)
|
rs201032669
|
0.00025
|
NM_181426.2(CCDC39):c.83A>C (p.Glu28Ala)
|
rs201794121
|
0.00025
|
NM_001277115.2(DNAH11):c.10411G>A (p.Glu3471Lys)
|
rs117729990
|
0.00024
|
NM_001364171.2(ODAD1):c.1641G>A (p.Ala547=)
|
rs374160332
|
0.00024
|
NM_001364171.2(ODAD1):c.414G>A (p.Pro138=)
|
rs372358888
|
0.00024
|
NM_001369.3(DNAH5):c.10435G>A (p.Ala3479Thr)
|
rs143295106
|
0.00024
|
NM_001369.3(DNAH5):c.7684A>T (p.Ile2562Phe)
|
rs151287187
|
0.00024
|
NM_003114.5(SPAG1):c.1057A>G (p.Lys353Glu)
|
rs556774863
|
0.00024
|
NM_003611.3(OFD1):c.1294A>G (p.Lys432Glu)
|
rs142352920
|
0.00024
|
NM_017802.4(DNAAF5):c.27C>T (p.Ala9=)
|
rs557885420
|
0.00024
|
NM_152732.5(RSPH9):c.819C>T (p.Pro273=)
|
rs79412180
|
0.00024
|
NM_213607.3(DNAAF19):c.31G>C (p.Ala11Pro)
|
rs146015856
|
0.00024
|
NM_001010892.3(RSPH4A):c.1245G>A (p.Gln415=)
|
rs139726443
|
0.00023
|
NM_001277115.2(DNAH11):c.11107G>C (p.Glu3703Gln)
|
rs762297426
|
0.00023
|
NM_001277115.2(DNAH11):c.11249T>G (p.Val3750Gly)
|
rs199864090
|
0.00023
|
NM_001277115.2(DNAH11):c.3288G>A (p.Met1096Ile)
|
rs575775297
|
0.00023
|
NM_001277115.2(DNAH11):c.618G>C (p.Met206Ile)
|
rs374350787
|
0.00023
|
NM_001277115.2(DNAH11):c.9465T>A (p.Ala3155=)
|
rs370662544
|
0.00023
|
NM_001369.3(DNAH5):c.10066T>C (p.Leu3356=)
|
rs138441172
|
0.00023
|
NM_001369.3(DNAH5):c.13174T>C (p.Phe4392Leu)
|
rs369714206
|
0.00023
|
NM_012472.6(DNAAF11):c.644A>G (p.Asn215Ser)
|
rs143717300
|
0.00023
|
NM_018076.5(ODAD2):c.1869G>A (p.Thr623=)
|
rs189617150
|
0.00023
|
NM_018076.5(ODAD2):c.2897C>A (p.Ala966Asp)
|
rs201834298
|
0.00023
|
NM_018139.3(DNAAF2):c.2388C>T (p.His796=)
|
rs140997181
|
0.00023
|
NM_178452.6(DNAAF1):c.735C>T (p.Pro245=)
|
rs139566676
|
0.00023
|
NM_001277115.2(DNAH11):c.2102A>G (p.Asn701Ser)
|
rs369770445
|
0.00022
|
NM_001277115.2(DNAH11):c.5143C>T (p.Arg1715Cys)
|
rs531475386
|
0.00022
|
NM_001277115.2(DNAH11):c.7449C>T (p.Leu2483=)
|
rs139339343
|
0.00022
|
NM_001277115.2(DNAH11):c.9783G>C (p.Glu3261Asp)
|
rs201944089
|
0.00022
|
NM_001364171.2(ODAD1):c.853G>A (p.Ala285Thr)
|
rs147718607
|
0.00022
|
NM_001369.3(DNAH5):c.11320T>C (p.Ser3774Pro)
|
rs766646786
|
0.00022
|
NM_001369.3(DNAH5):c.5196G>T (p.Ala1732=)
|
rs201484389
|
0.00022
|
NM_001369.3(DNAH5):c.6731A>T (p.Lys2244Met)
|
rs187023993
|
0.00022
|
NM_016616.5(NME8):c.17G>A (p.Arg6Gln)
|
rs199576209
|
0.00022
|
NM_017802.4(DNAAF5):c.2006C>T (p.Thr669Ile)
|
rs141955563
|
0.00022
|
NM_017950.4(CCDC40):c.384A>G (p.Ala128=)
|
rs375586063
|
0.00022
|
NM_178452.6(DNAAF1):c.1033G>C (p.Glu345Gln)
|
rs538389058
|
0.00022
|
NM_178452.6(DNAAF1):c.1083C>T (p.Gly361=)
|
rs200487337
|
0.00022
|
NM_001010892.3(RSPH4A):c.1734C>T (p.Asp578=)
|
rs188903141
|
0.00021
|
NM_001010892.3(RSPH4A):c.930C>T (p.Asn310=)
|
rs180881714
|
0.00021
|
NM_001034853.2(RPGR):c.1443A>C (p.Glu481Asp)
|
rs144863059
|
0.00021
|
NM_001256715.2(DNAAF3):c.747T>C (p.His249=)
|
rs368667794
|
0.00021
|
NM_001277115.2(DNAH11):c.10372A>G (p.Met3458Val)
|
rs200758776
|
0.00021
|
NM_001277115.2(DNAH11):c.13213C>T (p.Arg4405Cys)
|
rs371929703
|
0.00021
|
NM_001277115.2(DNAH11):c.4775G>T (p.Cys1592Phe)
|
rs72657327
|
0.00021
|
NM_001277115.2(DNAH11):c.6144G>A (p.Thr2048=)
|
rs754395781
|
0.00021
|
NM_001277115.2(DNAH11):c.8072A>G (p.Gln2691Arg)
|
rs183682756
|
0.00021
|
NM_001277115.2(DNAH11):c.8572G>A (p.Gly2858Ser)
|
rs201501951
|
0.00021
|
NM_001277115.2(DNAH11):c.9907A>G (p.Ile3303Val)
|
rs376875223
|
0.00021
|
NM_001364171.2(ODAD1):c.1222C>A (p.Leu408Met)
|
rs150271983
|
0.00021
|
NM_001369.3(DNAH5):c.39C>T (p.Ser13=)
|
rs370788337
|
0.00021
|
NM_001369.3(DNAH5):c.8999G>A (p.Arg3000Gln)
|
rs137949961
|
0.00021
|
NM_003114.5(SPAG1):c.1128C>T (p.Ala376=)
|
rs757793042
|
0.00021
|
NM_003114.5(SPAG1):c.2707G>A (p.Asp903Asn)
|
rs148756457
|
0.00021
|
NM_016616.5(NME8):c.1090G>T (p.Glu364Ter)
|
rs150497712
|
0.00021
|
NM_017802.4(DNAAF5):c.1499G>T (p.Cys500Phe)
|
rs144405450
|
0.00021
|
NM_017802.4(DNAAF5):c.2510C>T (p.Ser837Leu)
|
rs115620965
|
0.00021
|
NM_017950.4(CCDC40):c.1228G>A (p.Asp410Asn)
|
rs370948871
|
0.00021
|
NM_017950.4(CCDC40):c.1379T>A (p.Phe460Tyr)
|
rs201576715
|
0.00021
|
NM_023036.6(DNAI2):c.1599C>T (p.Thr533=)
|
rs139915367
|
0.00021
|
NM_178452.6(DNAAF1):c.1068C>T (p.Pro356=)
|
rs370118109
|
0.00021
|
NM_181426.2(CCDC39):c.68A>C (p.Glu23Ala)
|
rs200225521
|
0.00021
|
NM_000328.3(RPGR):c.2365G>A (p.Asp789Asn)
|
rs113968324
|
0.00020
|
NM_001277115.2(DNAH11):c.1824A>G (p.Gln608=)
|
rs188265394
|
0.00020
|
NM_001277115.2(DNAH11):c.472C>T (p.His158Tyr)
|
rs374186868
|
0.00020
|
NM_001369.3(DNAH5):c.8936A>G (p.Gln2979Arg)
|
rs148666497
|
0.00020
|
NM_012144.4(DNAI1):c.1454C>T (p.Thr485Met)
|
rs137935543
|
0.00020
|
NM_016616.5(NME8):c.1519A>G (p.Lys507Glu)
|
rs148302107
|
0.00020
|
NM_016616.5(NME8):c.454C>T (p.Gln152Ter)
|
rs199901385
|
0.00020
|
NM_017802.4(DNAAF5):c.380G>A (p.Gly127Asp)
|
rs1209538602
|
0.00020
|
NM_017950.4(CCDC40):c.1414C>T (p.Arg472Trp)
|
rs187993089
|
0.00020
|
NM_017950.4(CCDC40):c.2229G>C (p.Glu743Asp)
|
rs377219039
|
0.00020
|
NM_023036.6(DNAI2):c.1629G>A (p.Ala543=)
|
rs201925425
|
0.00020
|
NM_023036.6(DNAI2):c.1723-1G>T
|
rs201909971
|
0.00020
|
NM_181426.2(CCDC39):c.1555C>A (p.His519Asn)
|
rs374289303
|
0.00020
|
NM_181426.2(CCDC39):c.2381C>T (p.Pro794Leu)
|
rs7613155
|
0.00020
|
NM_001277115.2(DNAH11):c.10245G>A (p.Ala3415=)
|
rs199799310
|
0.00019
|
NM_001277115.2(DNAH11):c.13132G>A (p.Gly4378Ser)
|
rs374818694
|
0.00019
|
NM_001277115.2(DNAH11):c.2349T>A (p.Pro783=)
|
rs370930478
|
0.00019
|
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs)
|
rs397515540
|
0.00019
|
NM_001369.3(DNAH5):c.1830G>A (p.Gln610=)
|
rs549164618
|
0.00019
|
NM_001369.3(DNAH5):c.330A>T (p.Lys110Asn)
|
rs138832246
|
0.00019
|
NM_001369.3(DNAH5):c.4360C>T (p.Arg1454Ter)
|
rs148139814
|
0.00019
|
NM_001369.3(DNAH5):c.5911G>A (p.Gly1971Arg)
|
rs764973765
|
0.00019
|
NM_001369.3(DNAH5):c.5991C>T (p.Leu1997=)
|
rs376001456
|
0.00019
|
NM_001369.3(DNAH5):c.6230T>C (p.Phe2077Ser)
|
rs141196027
|
0.00019
|
NM_001369.3(DNAH5):c.6385G>C (p.Val2129Leu)
|
rs150095347
|
0.00019
|
NM_001369.3(DNAH5):c.7476G>T (p.Ala2492=)
|
rs778257130
|
0.00019
|
NM_003114.5(SPAG1):c.1562T>C (p.Met521Thr)
|
rs140258045
|
0.00019
|
NM_003114.5(SPAG1):c.842G>A (p.Arg281His)
|
rs369126472
|
0.00019
|
NM_003114.5(SPAG1):c.88A>G (p.Ile30Val)
|
rs550123264
|
0.00019
|
NM_016616.5(NME8):c.226C>A (p.Gln76Lys)
|
rs142570057
|
0.00019
|
NM_017802.4(DNAAF5):c.1893C>T (p.Thr631=)
|
rs149101412
|
0.00019
|
NM_017950.4(CCDC40):c.1456G>A (p.Asp486Asn)
|
rs375800869
|
0.00019
|
NM_017950.4(CCDC40):c.3176G>A (p.Arg1059Gln)
|
rs200902434
|
0.00019
|
NM_018076.5(ODAD2):c.86C>T (p.Ala29Val)
|
rs200574441
|
0.00019
|
NM_018139.3(DNAAF2):c.129C>T (p.Leu43=)
|
rs567371975
|
0.00019
|
NM_023036.6(DNAI2):c.1179A>G (p.Glu393=)
|
rs146478497
|
0.00019
|
NM_023036.6(DNAI2):c.1804G>A (p.Glu602Lys)
|
rs532046902
|
0.00019
|
NM_181426.2(CCDC39):c.644A>C (p.Lys215Thr)
|
rs376300013
|
0.00019
|
NM_001010892.3(RSPH4A):c.1340T>C (p.Val447Ala)
|
rs371062144
|
0.00018
|
NM_001277115.2(DNAH11):c.1116G>C (p.Trp372Cys)
|
rs372700740
|
0.00018
|
NM_001277115.2(DNAH11):c.2824C>A (p.Pro942Thr)
|
rs189569144
|
0.00018
|
NM_001277115.2(DNAH11):c.3281T>A (p.Val1094Asp)
|
rs369213196
|
0.00018
|
NM_001277115.2(DNAH11):c.8145C>T (p.Asn2715=)
|
rs201592689
|
0.00018
|
NM_001277115.2(DNAH11):c.9966A>G (p.Gln3322=)
|
rs201050208
|
0.00018
|
NM_001364171.2(ODAD1):c.1680C>A (p.Thr560=)
|
rs138262031
|
0.00018
|
NM_001369.3(DNAH5):c.11974G>C (p.Asp3992His)
|
rs143251480
|
0.00018
|
NM_001369.3(DNAH5):c.13837G>A (p.Val4613Met)
|
rs147583407
|
0.00018
|
NM_001369.3(DNAH5):c.1752T>C (p.Gly584=)
|
rs201028861
|
0.00018
|
NM_001369.3(DNAH5):c.3760C>T (p.Arg1254Trp)
|
rs749162833
|
0.00018
|
NM_001369.3(DNAH5):c.8746C>G (p.Leu2916Val)
|
rs373025050
|
0.00018
|
NM_003114.5(SPAG1):c.1923C>T (p.Asp641=)
|
rs143972848
|
0.00018
|
NM_017950.4(CCDC40):c.2798T>G (p.Ile933Ser)
|
rs564504598
|
0.00018
|
NM_017950.4(CCDC40):c.598G>A (p.Val200Ile)
|
rs200292678
|
0.00018
|
NM_018076.5(ODAD2):c.2572G>A (p.Ala858Thr)
|
rs200363248
|
0.00018
|
NM_001010892.3(RSPH4A):c.1536G>A (p.Glu512=)
|
rs533664718
|
0.00017
|
NM_001256715.2(DNAAF3):c.862G>A (p.Glu288Lys)
|
rs551121979
|
0.00017
|
NM_001277115.2(DNAH11):c.6017C>T (p.Pro2006Leu)
|
rs117803903
|
0.00017
|
NM_001277115.2(DNAH11):c.6924G>A (p.Pro2308=)
|
rs186695846
|
0.00017
|
NM_001277115.2(DNAH11):c.8770G>A (p.Val2924Met)
|
rs72657369
|
0.00017
|
NM_001369.3(DNAH5):c.12375G>A (p.Ala4125=)
|
rs140284455
|
0.00017
|
NM_003114.5(SPAG1):c.1360G>C (p.Glu454Gln)
|
rs878855237
|
0.00017
|
NM_003114.5(SPAG1):c.1406C>G (p.Ser469Trp)
|
rs756472753
|
0.00017
|
NM_003114.5(SPAG1):c.2515A>T (p.Met839Leu)
|
rs142674953
|
0.00017
|
NM_003611.3(OFD1):c.1730A>G (p.Asn577Ser)
|
rs200465596
|
0.00017
|
NM_012144.4(DNAI1):c.180G>A (p.Ala60=)
|
rs201120508
|
0.00017
|
NM_012144.4(DNAI1):c.520G>A (p.Glu174Lys)
|
rs141157671
|
0.00017
|
NM_017950.4(CCDC40):c.697G>A (p.Asp233Asn)
|
rs201815496
|
0.00017
|
NM_023036.6(DNAI2):c.1356C>T (p.Asp452=)
|
rs748264709
|
0.00017
|
NM_178452.6(DNAAF1):c.115T>C (p.Cys39Arg)
|
rs373512514
|
0.00017
|
NM_181426.2(CCDC39):c.1612C>G (p.Leu538Val)
|
rs377319302
|
0.00017
|
NM_001010892.3(RSPH4A):c.242C>T (p.Ser81Leu)
|
rs371869815
|
0.00016
|
NM_001034853.2(RPGR):c.394G>A (p.Val132Ile)
|
rs768274240
|
0.00016
|
NM_001277115.2(DNAH11):c.11042T>C (p.Val3681Ala)
|
rs372733227
|
0.00016
|
NM_001277115.2(DNAH11):c.12712C>A (p.Leu4238Ile)
|
rs761368563
|
0.00016
|
NM_001277115.2(DNAH11):c.13346G>A (p.Arg4449His)
|
rs138945257
|
0.00016
|
NM_001277115.2(DNAH11):c.13398C>T (p.Pro4466=)
|
rs72658836
|
0.00016
|
NM_001277115.2(DNAH11):c.2038G>A (p.Asp680Asn)
|
rs201121146
|
0.00016
|
NM_001277115.2(DNAH11):c.2579C>T (p.Ala860Val)
|
rs200459876
|
0.00016
|
NM_001277115.2(DNAH11):c.4370C>T (p.Thr1457Ile)
|
rs200220615
|
0.00016
|
NM_001277115.2(DNAH11):c.5397C>A (p.Ile1799=)
|
rs368444771
|
0.00016
|
NM_001277115.2(DNAH11):c.6506C>T (p.Ser2169Leu)
|
rs373946181
|
0.00016
|
NM_001277115.2(DNAH11):c.7295G>A (p.Arg2432Gln)
|
rs769003090
|
0.00016
|
NM_001277115.2(DNAH11):c.8671C>T (p.Arg2891Trp)
|
rs199574130
|
0.00016
|
NM_001277115.2(DNAH11):c.9925-3C>T
|
rs774970534
|
0.00016
|
NM_001364171.2(ODAD1):c.315G>A (p.Ala105=)
|
rs369079468
|
0.00016
|
NM_001369.3(DNAH5):c.10789G>T (p.Ala3597Ser)
|
rs368959723
|
0.00016
|
NM_001369.3(DNAH5):c.574G>A (p.Ala192Thr)
|
rs140700961
|
0.00016
|
NM_012472.6(DNAAF11):c.1109C>G (p.Thr370Arg)
|
rs148424037
|
0.00016
|
NM_016616.5(NME8):c.440C>T (p.Pro147Leu)
|
rs143559107
|
0.00016
|
NM_017802.4(DNAAF5):c.1446C>G (p.Ala482=)
|
rs571248637
|
0.00016
|
NM_017802.4(DNAAF5):c.982C>T (p.Leu328=)
|
rs758280553
|
0.00016
|
NM_017950.4(CCDC40):c.1067C>T (p.Ser356Leu)
|
rs200448007
|
0.00016
|
NM_017950.4(CCDC40):c.1187A>T (p.Asn396Ile)
|
rs200701665
|
0.00016
|
NM_017950.4(CCDC40):c.1897C>T (p.Arg633Trp)
|
rs200551690
|
0.00016
|
NM_017950.4(CCDC40):c.1949A>G (p.Asn650Ser)
|
rs201064110
|
0.00016
|
NM_017950.4(CCDC40):c.2227G>A (p.Glu743Lys)
|
rs201166295
|
0.00016
|
NM_017950.4(CCDC40):c.2332C>T (p.Leu778=)
|
rs202075842
|
0.00016
|
NM_017950.4(CCDC40):c.760G>A (p.Glu254Lys)
|
rs758247990
|
0.00016
|
NM_018076.5(ODAD2):c.2284G>C (p.Val762Leu)
|
rs201498403
|
0.00016
|
NM_018139.3(DNAAF2):c.1687G>T (p.Ala563Ser)
|
rs138511448
|
0.00016
|
NM_018139.3(DNAAF2):c.20C>T (p.Ser7Phe)
|
rs577796590
|
0.00016
|
NM_001010892.3(RSPH4A):c.287C>T (p.Pro96Leu)
|
rs201187909
|
0.00015
|
NM_001034853.2(RPGR):c.1710G>A (p.Thr570=)
|
rs138347728
|
0.00015
|
NM_001256715.2(DNAAF3):c.469C>T (p.Arg157Cys)
|
rs369116839
|
0.00015
|
NM_001277115.2(DNAH11):c.2570G>A (p.Arg857Gln)
|
rs376572966
|
0.00015
|
NM_001277115.2(DNAH11):c.3412T>C (p.Phe1138Leu)
|
rs200099996
|
0.00015
|
NM_001277115.2(DNAH11):c.4224G>T (p.Arg1408Ser)
|
rs200216579
|
0.00015
|
NM_001277115.2(DNAH11):c.971C>T (p.Ala324Val)
|
rs79874320
|
0.00015
|
NM_001277115.2(DNAH11):c.9869C>G (p.Ser3290Cys)
|
rs201494403
|
0.00015
|
NM_001369.3(DNAH5):c.10194C>T (p.Arg3398=)
|
rs371663826
|
0.00015
|
NM_001369.3(DNAH5):c.11570+5G>A
|
rs771916783
|
0.00015
|
NM_001369.3(DNAH5):c.2400G>A (p.Glu800=)
|
rs199951976
|
0.00015
|
NM_001369.3(DNAH5):c.4016T>G (p.Leu1339Arg)
|
rs367816483
|
0.00015
|
NM_001369.3(DNAH5):c.4687G>A (p.Gly1563Ser)
|
rs147567352
|
0.00015
|
NM_003114.5(SPAG1):c.1119C>T (p.Ala373=)
|
rs1368158185
|
0.00015
|
NM_003611.3(OFD1):c.2235C>T (p.Ser745=)
|
rs372503752
|
0.00015
|
NM_012144.4(DNAI1):c.2045T>C (p.Ile682Thr)
|
rs138460682
|
0.00015
|
NM_016616.5(NME8):c.1689C>G (p.Asn563Lys)
|
rs138317061
|
0.00015
|
NM_016616.5(NME8):c.747C>T (p.Asn249=)
|
rs371745920
|
0.00015
|
NM_017802.4(DNAAF5):c.282G>A (p.Ala94=)
|
rs887811765
|
0.00015
|
NM_023036.6(DNAI2):c.1146G>A (p.Thr382=)
|
rs142571722
|
0.00015
|
NM_178452.6(DNAAF1):c.1532C>T (p.Pro511Leu)
|
rs144393177
|
0.00015
|
NM_178452.6(DNAAF1):c.752A>G (p.Asn251Ser)
|
rs760764943
|
0.00015
|
NM_001010892.3(RSPH4A):c.1708G>C (p.Glu570Gln)
|
rs147003118
|
0.00014
|
NM_001277115.2(DNAH11):c.5625T>C (p.Cys1875=)
|
rs368967707
|
0.00014
|
NM_001277115.2(DNAH11):c.8230C>T (p.Arg2744Cys)
|
rs374826188
|
0.00014
|
NM_001277115.2(DNAH11):c.9499A>C (p.Thr3167Pro)
|
rs202224167
|
0.00014
|
NM_001364171.2(ODAD1):c.1771C>T (p.Arg591Cys)
|
rs369825835
|
0.00014
|
NM_001369.3(DNAH5):c.13775G>A (p.Arg4592Gln)
|
rs367709427
|
0.00014
|
NM_001369.3(DNAH5):c.3315C>A (p.Asn1105Lys)
|
rs144053917
|
0.00014
|
NM_001369.3(DNAH5):c.6018T>C (p.Cys2006=)
|
rs368456533
|
0.00014
|
NM_012144.4(DNAI1):c.741G>A (p.Lys247=)
|
rs562408105
|
0.00014
|
NM_016616.5(NME8):c.1630G>A (p.Ala544Thr)
|
rs140494494
|
0.00014
|
NM_017802.4(DNAAF5):c.1539C>T (p.Gly513=)
|
rs577043545
|
0.00014
|
NM_017802.4(DNAAF5):c.697G>A (p.Ala233Thr)
|
rs149139347
|
0.00014
|
NM_017802.4(DNAAF5):c.884A>G (p.Asn295Ser)
|
rs377147369
|
0.00014
|
NM_017950.4(CCDC40):c.2159C>T (p.Thr720Met)
|
rs201407989
|
0.00014
|
NM_018076.5(ODAD2):c.2151G>A (p.Lys717=)
|
rs375534822
|
0.00014
|
NM_018076.5(ODAD2):c.2506C>T (p.Arg836Cys)
|
rs369264618
|
0.00014
|
NM_018139.3(DNAAF2):c.824C>T (p.Ala275Val)
|
rs200291432
|
0.00014
|
NM_023036.6(DNAI2):c.1040G>A (p.Arg347His)
|
rs138489039
|
0.00014
|
NM_023036.6(DNAI2):c.134A>G (p.Asn45Ser)
|
rs148073122
|
0.00014
|
NM_023036.6(DNAI2):c.1615G>A (p.Val539Ile)
|
rs199817659
|
0.00014
|
NM_178452.6(DNAAF1):c.1377T>A (p.Asp459Glu)
|
rs761136963
|
0.00014
|
NM_178452.6(DNAAF1):c.1852C>T (p.Arg618Trp)
|
rs369294412
|
0.00014
|
NM_181426.2(CCDC39):c.35A>G (p.Glu12Gly)
|
rs571890144
|
0.00014
|
NM_001010892.3(RSPH4A):c.91T>C (p.Ser31Pro)
|
rs142543424
|
0.00013
|
NM_001010892.3(RSPH4A):c.92C>T (p.Ser31Phe)
|
rs150537417
|
0.00013
|
NM_001034853.2(RPGR):c.1608A>T (p.Thr536=)
|
rs145089607
|
0.00013
|
NM_001256715.2(DNAAF3):c.1353C>T (p.Phe451=)
|
rs201887376
|
0.00013
|
NM_001277115.2(DNAH11):c.10122A>G (p.Lys3374=)
|
rs764350537
|
0.00013
|
NM_001277115.2(DNAH11):c.1425+4T>C
|
rs1034720999
|
0.00013
|
NM_001277115.2(DNAH11):c.3201T>C (p.His1067=)
|
rs367776408
|
0.00013
|
NM_001277115.2(DNAH11):c.4620G>A (p.Gln1540=)
|
rs192515447
|
0.00013
|
NM_001277115.2(DNAH11):c.5740G>T (p.Val1914Phe)
|
rs201671992
|
0.00013
|
NM_001277115.2(DNAH11):c.5993G>A (p.Gly1998Asp)
|
rs369704964
|
0.00013
|
NM_001277115.2(DNAH11):c.891A>G (p.Ala297=)
|
rs201934527
|
0.00013
|
NM_001369.3(DNAH5):c.11215T>C (p.Leu3739=)
|
rs768012285
|
0.00013
|
NM_001369.3(DNAH5):c.11934G>A (p.Pro3978=)
|
rs370543923
|
0.00013
|
NM_001369.3(DNAH5):c.1252G>A (p.Ala418Thr)
|
rs140388814
|
0.00013
|
NM_001369.3(DNAH5):c.2571G>A (p.Met857Ile)
|
rs199667661
|
0.00013
|
NM_001369.3(DNAH5):c.4361G>A (p.Arg1454Gln)
|
rs542708170
|
0.00013
|
NM_001369.3(DNAH5):c.5438A>G (p.Glu1813Gly)
|
rs199910966
|
0.00013
|
NM_003114.5(SPAG1):c.1790C>T (p.Pro597Leu)
|
rs139376770
|
0.00013
|
NM_003611.3(OFD1):c.654+27_654+28del
|
rs767617604
|
0.00013
|
NM_012144.4(DNAI1):c.1195G>A (p.Val399Met)
|
rs150261456
|
0.00013
|
NM_012144.4(DNAI1):c.873C>T (p.Asn291=)
|
rs149755302
|
0.00013
|
NM_012472.6(DNAAF11):c.611C>T (p.Ala204Val)
|
rs376633613
|
0.00013
|
NM_016616.5(NME8):c.743C>A (p.Pro248His)
|
rs199973571
|
0.00013
|
NM_017802.4(DNAAF5):c.1270G>A (p.Ala424Thr)
|
rs141828030
|
0.00013
|
NM_017802.4(DNAAF5):c.1812C>T (p.His604=)
|
rs190772196
|
0.00013
|
NM_017802.4(DNAAF5):c.840C>T (p.Tyr280=)
|
rs199992201
|
0.00013
|
NM_017950.4(CCDC40):c.179C>T (p.Ala60Val)
|
rs567452648
|
0.00013
|
NM_018076.5(ODAD2):c.43G>A (p.Gly15Arg)
|
rs375424862
|
0.00013
|
NM_023036.6(DNAI2):c.1202T>C (p.Met401Thr)
|
rs146769635
|
0.00013
|
NM_178452.6(DNAAF1):c.1205A>T (p.Glu402Val)
|
rs144034147
|
0.00013
|
NM_178452.6(DNAAF1):c.361C>T (p.Arg121Cys)
|
rs368031148
|
0.00013
|
NM_178452.6(DNAAF1):c.812G>A (p.Arg271Gln)
|
rs140751779
|
0.00013
|
NM_181426.2(CCDC39):c.396G>A (p.Leu132=)
|
rs201923286
|
0.00013
|
NM_000328.3(RPGR):c.2267C>T (p.Ser756Leu)
|
rs766828733
|
0.00012
|
NM_001034853.2(RPGR):c.1371G>C (p.Glu457Asp)
|
rs371226433
|
0.00012
|
NM_001277115.2(DNAH11):c.12057C>T (p.Phe4019=)
|
rs200441507
|
0.00012
|
NM_001277115.2(DNAH11):c.3109C>G (p.His1037Asp)
|
rs370878348
|
0.00012
|
NM_001277115.2(DNAH11):c.3494A>G (p.Asp1165Gly)
|
rs370436662
|
0.00012
|
NM_001277115.2(DNAH11):c.7225G>A (p.Ala2409Thr)
|
rs559451610
|
0.00012
|
NM_001369.3(DNAH5):c.104C>T (p.Ala35Val)
|
rs371414060
|
0.00012
|
NM_001369.3(DNAH5):c.2306C>T (p.Ala769Val)
|
rs200101760
|
0.00012
|
NM_001369.3(DNAH5):c.3733C>T (p.Arg1245Cys)
|
rs149609746
|
0.00012
|
NM_001369.3(DNAH5):c.7943C>T (p.Ala2648Val)
|
rs201939338
|
0.00012
|
NM_001369.3(DNAH5):c.8837G>A (p.Arg2946His)
|
rs140975593
|
0.00012
|
NM_001369.3(DNAH5):c.8940C>T (p.Ile2980=)
|
rs144001451
|
0.00012
|
NM_012144.4(DNAI1):c.1001C>T (p.Ser334Phe)
|
rs1451350869
|
0.00012
|
NM_012144.4(DNAI1):c.1929C>A (p.Ile643=)
|
rs146434058
|
0.00012
|
NM_012472.6(DNAAF11):c.369C>T (p.Asn123=)
|
rs373347833
|
0.00012
|
NM_017802.4(DNAAF5):c.1653T>C (p.Gly551=)
|
rs201112772
|
0.00012
|
NM_017950.4(CCDC40):c.1076G>A (p.Arg359His)
|
rs373746597
|
0.00012
|
NM_018076.5(ODAD2):c.2630G>A (p.Arg877His)
|
rs376143899
|
0.00012
|
NM_181426.2(CCDC39):c.1808T>C (p.Ile603Thr)
|
rs368733987
|
0.00012
|
NM_001256715.2(DNAAF3):c.891G>A (p.Thr297=)
|
rs565551381
|
0.00011
|
NM_001277115.2(DNAH11):c.10637C>T (p.Thr3546Met)
|
rs374549012
|
0.00011
|
NM_001277115.2(DNAH11):c.11714G>C (p.Gly3905Ala)
|
rs767288107
|
0.00011
|
NM_001277115.2(DNAH11):c.1232G>A (p.Gly411Glu)
|
rs552249954
|
0.00011
|
NM_001277115.2(DNAH11):c.13243A>C (p.Lys4415Gln)
|
rs372325290
|
0.00011
|
NM_001277115.2(DNAH11):c.2826G>A (p.Pro942=)
|
rs368794820
|
0.00011
|
NM_001277115.2(DNAH11):c.3422A>T (p.Asp1141Val)
|
rs373365959
|
0.00011
|
NM_001277115.2(DNAH11):c.3545G>A (p.Arg1182Gln)
|
rs368316519
|
0.00011
|
NM_001277115.2(DNAH11):c.6029A>G (p.Lys2010Arg)
|
rs183609678
|
0.00011
|
NM_001277115.2(DNAH11):c.6118C>T (p.Arg2040Cys)
|
rs199772877
|
0.00011
|
NM_001277115.2(DNAH11):c.7604G>A (p.Arg2535His)
|
rs115598432
|
0.00011
|
NM_001277115.2(DNAH11):c.7980A>C (p.Gln2660His)
|
rs752284064
|
0.00011
|
NM_001277115.2(DNAH11):c.8382G>A (p.Lys2794=)
|
rs200214408
|
0.00011
|
NM_001277115.2(DNAH11):c.9279C>T (p.Ser3093=)
|
rs200160729
|
0.00011
|
NM_001364171.2(ODAD1):c.1324C>T (p.Arg442Trp)
|
rs138500585
|
0.00011
|
NM_001364171.2(ODAD1):c.1360C>T (p.Arg454Trp)
|
rs199822195
|
0.00011
|
NM_001364171.2(ODAD1):c.2091G>A (p.Pro697=)
|
rs572589870
|
0.00011
|
NM_001364171.2(ODAD1):c.379C>T (p.Arg127Trp)
|
rs772057072
|
0.00011
|
NM_001369.3(DNAH5):c.10084T>A (p.Phe3362Ile)
|
rs373406041
|
0.00011
|
NM_001369.3(DNAH5):c.10731C>G (p.Asn3577Lys)
|
rs376292253
|
0.00011
|
NM_001369.3(DNAH5):c.12189G>A (p.Gly4063=)
|
rs144879072
|
0.00011
|
NM_001369.3(DNAH5):c.12644C>T (p.Ala4215Val)
|
rs200969063
|
0.00011
|
NM_001369.3(DNAH5):c.13409C>T (p.Ser4470Leu)
|
rs146051262
|
0.00011
|
NM_001369.3(DNAH5):c.3112G>A (p.Val1038Met)
|
rs146828513
|
0.00011
|
NM_001369.3(DNAH5):c.4440C>T (p.Cys1480=)
|
rs376618204
|
0.00011
|
NM_001369.3(DNAH5):c.4860C>T (p.Asp1620=)
|
rs139447802
|
0.00011
|
NM_001369.3(DNAH5):c.5692G>A (p.Asp1898Asn)
|
rs149834171
|
0.00011
|
NM_001369.3(DNAH5):c.6444+4T>C
|
rs377638408
|
0.00011
|
NM_001369.3(DNAH5):c.7502G>C (p.Arg2501Pro)
|
rs78853309
|
0.00011
|
NM_001369.3(DNAH5):c.7881G>A (p.Met2627Ile)
|
rs369279743
|
0.00011
|
NM_001369.3(DNAH5):c.8512A>C (p.Ser2838Arg)
|
rs763198301
|
0.00011
|
NM_001369.3(DNAH5):c.9714C>T (p.Ala3238=)
|
rs375561333
|
0.00011
|
NM_003114.5(SPAG1):c.639G>A (p.Lys213=)
|
rs751691673
|
0.00011
|
NM_003611.3(OFD1):c.264A>G (p.Glu88=)
|
rs138623824
|
0.00011
|
NM_012144.4(DNAI1):c.175G>A (p.Asp59Asn)
|
rs565990305
|
0.00011
|
NM_016616.5(NME8):c.285C>T (p.Ile95=)
|
rs201295247
|
0.00011
|
NM_017802.4(DNAAF5):c.1813G>A (p.Val605Ile)
|
rs572892623
|
0.00011
|
NM_017950.4(CCDC40):c.2156G>A (p.Arg719His)
|
rs572440259
|
0.00011
|
NM_017950.4(CCDC40):c.2383C>G (p.Leu795Val)
|
rs765958313
|
0.00011
|
NM_018076.5(ODAD2):c.2097+1G>T
|
rs149368374
|
0.00011
|
NM_018076.5(ODAD2):c.2119C>T (p.Arg707Trp)
|
rs145133998
|
0.00011
|
NM_018076.5(ODAD2):c.2258G>A (p.Arg753Gln)
|
rs760325470
|
0.00011
|
NM_018076.5(ODAD2):c.26C>T (p.Thr9Met)
|
rs181484327
|
0.00011
|
NM_018076.5(ODAD2):c.3069T>C (p.Ala1023=)
|
rs546928912
|
0.00011
|
NM_018139.3(DNAAF2):c.1315G>C (p.Asp439His)
|
rs371126037
|
0.00011
|
NM_023036.6(DNAI2):c.1776G>A (p.Ala592=)
|
rs200861036
|
0.00011
|
NM_023036.6(DNAI2):c.319G>A (p.Val107Ile)
|
rs200358267
|
0.00011
|
NM_152732.5(RSPH9):c.780C>T (p.Tyr260=)
|
rs372218633
|
0.00011
|
NM_178452.6(DNAAF1):c.1816A>G (p.Ile606Val)
|
rs146607878
|
0.00011
|
NM_178452.6(DNAAF1):c.507G>C (p.Leu169=)
|
rs370128838
|
0.00011
|
NM_178452.6(DNAAF1):c.604A>G (p.Met202Val)
|
rs150672056
|
0.00011
|
NM_181426.2(CCDC39):c.210+4C>T
|
rs182803063
|
0.00011
|
NM_181426.2(CCDC39):c.2558G>A (p.Arg853His)
|
rs147183244
|
0.00011
|
NM_181426.2(CCDC39):c.2615C>A (p.Thr872Lys)
|
rs202027034
|
0.00011
|
NM_181426.2(CCDC39):c.455A>C (p.His152Pro)
|
rs370141610
|
0.00011
|
NM_181426.2(CCDC39):c.885G>A (p.Thr295=)
|
rs775454434
|
0.00011
|
NM_001034853.2(RPGR):c.1163C>T (p.Ala388Val)
|
rs199661899
|
0.00010
|
NM_001256715.2(DNAAF3):c.918C>T (p.Ala306=)
|
rs371357562
|
0.00010
|
NM_001277115.2(DNAH11):c.10887G>A (p.Glu3629=)
|
rs368254400
|
0.00010
|
NM_001277115.2(DNAH11):c.12796T>A (p.Phe4266Ile)
|
rs186358036
|
0.00010
|
NM_001277115.2(DNAH11):c.1586C>G (p.Thr529Ser)
|
rs183509559
|
0.00010
|
NM_001277115.2(DNAH11):c.5318A>G (p.His1773Arg)
|
rs200295318
|
0.00010
|
NM_001277115.2(DNAH11):c.8456A>G (p.Asn2819Ser)
|
rs371215793
|
0.00010
|
NM_001364171.2(ODAD1):c.1175C>T (p.Ser392Leu)
|
rs201978870
|
0.00010
|
NM_001364171.2(ODAD1):c.1702G>A (p.Val568Ile)
|
rs190964996
|
0.00010
|
NM_001364171.2(ODAD1):c.325G>A (p.Glu109Lys)
|
rs368408933
|
0.00010
|
NM_001364171.2(ODAD1):c.697C>T (p.Arg233Trp)
|
rs200168343
|
0.00010
|
NM_001369.3(DNAH5):c.10347C>T (p.Ala3449=)
|
rs150773884
|
0.00010
|
NM_001369.3(DNAH5):c.11322C>T (p.Ser3774=)
|
rs267600357
|
0.00010
|
NM_001369.3(DNAH5):c.11700C>G (p.Thr3900=)
|
rs777190482
|
0.00010
|
NM_001369.3(DNAH5):c.12105G>A (p.Thr4035=)
|
rs199735129
|
0.00010
|
NM_001369.3(DNAH5):c.1955G>A (p.Ser652Asn)
|
rs749126116
|
0.00010
|
NM_001369.3(DNAH5):c.2760A>G (p.Gly920=)
|
rs763731693
|
0.00010
|
NM_001369.3(DNAH5):c.4689C>T (p.Gly1563=)
|
rs375658702
|
0.00010
|
NM_001369.3(DNAH5):c.4881G>A (p.Thr1627=)
|
rs751858022
|
0.00010
|
NM_001369.3(DNAH5):c.7605C>T (p.Pro2535=)
|
rs375573515
|
0.00010
|
NM_001369.3(DNAH5):c.9626A>G (p.Lys3209Arg)
|
rs201473584
|
0.00010
|
NM_003611.3(OFD1):c.1460G>A (p.Arg487Gln)
|
rs147104722
|
0.00010
|
NM_012472.6(DNAAF11):c.436G>C (p.Asp146His)
|
rs200321595
|
0.00010
|
NM_012472.6(DNAAF11):c.98T>C (p.Ile33Thr)
|
rs376498462
|
0.00010
|
NM_017802.4(DNAAF5):c.1249G>A (p.Val417Ile)
|
rs145938269
|
0.00010
|
NM_017802.4(DNAAF5):c.1746G>A (p.Pro582=)
|
rs368936903
|
0.00010
|
NM_017802.4(DNAAF5):c.2329G>A (p.Ala777Thr)
|
rs200050837
|
0.00010
|
NM_017802.4(DNAAF5):c.436G>T (p.Val146Leu)
|
rs745787736
|
0.00010
|
NM_017802.4(DNAAF5):c.822G>C (p.Leu274=)
|
rs142939429
|
0.00010
|
NM_017950.4(CCDC40):c.1843C>T (p.Arg615Cys)
|
rs763700391
|
0.00010
|
NM_017950.4(CCDC40):c.2053A>G (p.Ser685Gly)
|
rs764707273
|
0.00010
|
NM_017950.4(CCDC40):c.2293G>A (p.Glu765Lys)
|
rs199850214
|
0.00010
|
NM_017950.4(CCDC40):c.257A>G (p.Tyr86Cys)
|
rs202220442
|
0.00010
|
NM_017950.4(CCDC40):c.2996G>A (p.Arg999His)
|
rs201293301
|
0.00010
|
NM_017950.4(CCDC40):c.3027C>T (p.Thr1009=)
|
rs79588289
|
0.00010
|
NM_017950.4(CCDC40):c.3114G>A (p.Ser1038=)
|
rs372856318
|
0.00010
|
NM_018076.5(ODAD2):c.1916G>A (p.Arg639Gln)
|
rs148908705
|
0.00010
|
NM_018076.5(ODAD2):c.765C>T (p.His255=)
|
rs147124402
|
0.00010
|
NM_023036.6(DNAI2):c.1318G>C (p.Glu440Gln)
|
rs182986650
|
0.00010
|
NM_023036.6(DNAI2):c.1553G>A (p.Arg518Gln)
|
rs139051164
|
0.00010
|
NM_152732.5(RSPH9):c.415C>T (p.Arg139Cys)
|
rs368519003
|
0.00010
|
NM_178452.6(DNAAF1):c.2079C>T (p.Ser693=)
|
rs145469545
|
0.00010
|
NM_181426.2(CCDC39):c.1896A>G (p.Leu632=)
|
rs79353057
|
0.00010
|
NM_001010892.3(RSPH4A):c.1060C>T (p.Arg354Cys)
|
rs143931549
|
0.00009
|
NM_001010892.3(RSPH4A):c.1180G>A (p.Gly394Arg)
|
rs146363206
|
0.00009
|
NM_001010892.3(RSPH4A):c.1334C>T (p.Pro445Leu)
|
rs139677155
|
0.00009
|
NM_001010892.3(RSPH4A):c.1828C>T (p.Arg610Trp)
|
rs149268378
|
0.00009
|
NM_001010892.3(RSPH4A):c.1920G>A (p.Lys640=)
|
rs560185647
|
0.00009
|
NM_001277115.2(DNAH11):c.10121A>G (p.Lys3374Arg)
|
rs763155183
|
0.00009
|
NM_001277115.2(DNAH11):c.10380G>A (p.Thr3460=)
|
rs535847014
|
0.00009
|
NM_001277115.2(DNAH11):c.11260C>G (p.Gln3754Glu)
|
rs372918576
|
0.00009
|
NM_001277115.2(DNAH11):c.11426G>A (p.Arg3809Gln)
|
rs753081155
|
0.00009
|
NM_001277115.2(DNAH11):c.11457C>T (p.Pro3819=)
|
rs201185369
|
0.00009
|
NM_001277115.2(DNAH11):c.133G>A (p.Ala45Thr)
|
rs772333047
|
0.00009
|
NM_001277115.2(DNAH11):c.1513C>T (p.His505Tyr)
|
rs771891040
|
0.00009
|
NM_001277115.2(DNAH11):c.1567T>C (p.Tyr523His)
|
rs200126117
|
0.00009
|
NM_001277115.2(DNAH11):c.1655G>T (p.Gly552Val)
|
rs187510989
|
0.00009
|
NM_001277115.2(DNAH11):c.183C>T (p.Phe61=)
|
rs571142873
|
0.00009
|
NM_001277115.2(DNAH11):c.2500G>A (p.Val834Met)
|
rs368578923
|
0.00009
|
NM_001277115.2(DNAH11):c.4667T>C (p.Ile1556Thr)
|
rs370239008
|
0.00009
|
NM_001277115.2(DNAH11):c.6499C>T (p.Arg2167Trp)
|
rs750245529
|
0.00009
|
NM_001277115.2(DNAH11):c.7311G>A (p.Glu2437=)
|
rs762639291
|
0.00009
|
NM_001277115.2(DNAH11):c.7603C>T (p.Arg2535Cys)
|
rs374335908
|
0.00009
|
NM_001277115.2(DNAH11):c.8299G>A (p.Ala2767Thr)
|
rs200628085
|
0.00009
|
NM_001277115.2(DNAH11):c.8794T>G (p.Ser2932Ala)
|
rs368664931
|
0.00009
|
NM_001277115.2(DNAH11):c.8798-4G>A
|
rs374160369
|
0.00009
|
NM_001364171.2(ODAD1):c.1157G>A (p.Arg386His)
|
rs200697095
|
0.00009
|
NM_001364171.2(ODAD1):c.1187G>A (p.Arg396His)
|
rs139618333
|
0.00009
|
NM_001364171.2(ODAD1):c.1198C>T (p.Arg400Cys)
|
rs149354918
|
0.00009
|
NM_001364171.2(ODAD1):c.1689C>T (p.Ala563=)
|
rs139270932
|
0.00009
|
NM_001364171.2(ODAD1):c.1822C>T (p.His608Tyr)
|
rs201978305
|
0.00009
|
NM_001369.3(DNAH5):c.10036A>G (p.Thr3346Ala)
|
rs141971313
|
0.00009
|
NM_001369.3(DNAH5):c.11512G>A (p.Glu3838Lys)
|
rs190450522
|
0.00009
|
NM_001369.3(DNAH5):c.13070C>G (p.Ala4357Gly)
|
rs368776967
|
0.00009
|
NM_001369.3(DNAH5):c.1362A>G (p.Lys454=)
|
rs371157628
|
0.00009
|
NM_001369.3(DNAH5):c.4821G>T (p.Gln1607His)
|
rs773599958
|
0.00009
|
NM_001369.3(DNAH5):c.6235C>T (p.Leu2079Phe)
|
rs371463953
|
0.00009
|
NM_001369.3(DNAH5):c.6970A>G (p.Thr2324Ala)
|
rs143074036
|
0.00009
|
NM_001369.3(DNAH5):c.8828G>A (p.Arg2943His)
|
rs184758570
|
0.00009
|
NM_003114.5(SPAG1):c.132C>T (p.Cys44=)
|
rs376986262
|
0.00009
|
NM_003114.5(SPAG1):c.2444C>T (p.Ala815Val)
|
rs4734455
|
0.00009
|
NM_003114.5(SPAG1):c.2633A>C (p.Lys878Thr)
|
rs144327310
|
0.00009
|
NM_003114.5(SPAG1):c.2769G>A (p.Gln923=)
|
rs768865173
|
0.00009
|
NM_003114.5(SPAG1):c.496G>A (p.Val166Met)
|
rs201503190
|
0.00009
|
NM_003114.5(SPAG1):c.897_901del (p.Lys301fs)
|
rs751845138
|
0.00009
|
NM_003611.3(OFD1):c.2192C>T (p.Ser731Phe)
|
rs375698090
|
0.00009
|
NM_003611.3(OFD1):c.2669G>A (p.Arg890Gln)
|
rs748643730
|
0.00009
|
NM_012144.4(DNAI1):c.638C>T (p.Thr213Met)
|
rs201754555
|
0.00009
|
NM_012472.6(DNAAF11):c.340C>T (p.His114Tyr)
|
rs759237359
|
0.00009
|
NM_012472.6(DNAAF11):c.976T>A (p.Tyr326Asn)
|
rs200458059
|
0.00009
|
NM_012472.6(DNAAF11):c.988T>A (p.Ser330Thr)
|
rs199759512
|
0.00009
|
NM_012472.6(DNAAF11):c.997G>A (p.Asp333Asn)
|
rs375060512
|
0.00009
|
NM_017802.4(DNAAF5):c.2334C>T (p.Asn778=)
|
rs544376163
|
0.00009
|
NM_017802.4(DNAAF5):c.447G>C (p.Leu149=)
|
rs969984227
|
0.00009
|
NM_017802.4(DNAAF5):c.502C>G (p.Leu168Val)
|
rs900496106
|
0.00009
|
NM_017950.4(CCDC40):c.1468G>A (p.Val490Met)
|
rs200902099
|
0.00009
|
NM_017950.4(CCDC40):c.1520A>T (p.Lys507Met)
|
rs563467821
|
0.00009
|
NM_017950.4(CCDC40):c.400G>A (p.Gly134Arg)
|
rs201191082
|
0.00009
|
NM_018076.5(ODAD2):c.1218C>T (p.His406=)
|
rs774971206
|
0.00009
|
NM_018076.5(ODAD2):c.2571C>T (p.Ser857=)
|
rs535250584
|
0.00009
|
NM_018076.5(ODAD2):c.800G>T (p.Gly267Val)
|
rs183878259
|
0.00009
|
NM_018139.3(DNAAF2):c.1931A>G (p.Lys644Arg)
|
rs770857109
|
0.00009
|
NM_023036.6(DNAI2):c.1698C>T (p.Asp566=)
|
rs142710343
|
0.00009
|
NM_178452.6(DNAAF1):c.1172C>T (p.Pro391Leu)
|
rs767204860
|
0.00009
|
NM_178452.6(DNAAF1):c.1317G>A (p.Glu439=)
|
rs768024430
|
0.00009
|
NM_178452.6(DNAAF1):c.1735T>C (p.Leu579=)
|
rs764511452
|
0.00009
|
NM_178452.6(DNAAF1):c.2166G>A (p.Pro722=)
|
rs764624773
|
0.00009
|
NM_181426.2(CCDC39):c.1887C>T (p.Arg629=)
|
rs759900725
|
0.00009
|
NM_181426.2(CCDC39):c.2548A>G (p.Thr850Ala)
|
rs201963508
|
0.00009
|
NM_181426.2(CCDC39):c.610-2A>G
|
rs756235547
|
0.00009
|
NM_213607.3(DNAAF19):c.359A>G (p.Tyr120Cys)
|
rs149858795
|
0.00009
|
NM_001010892.3(RSPH4A):c.1274G>A (p.Gly425Asp)
|
rs371882096
|
0.00008
|
NM_001256715.2(DNAAF3):c.-81G>A
|
rs201101258
|
0.00008
|
NM_001277115.2(DNAH11):c.10627C>T (p.Leu3543Phe)
|
rs370350252
|
0.00008
|
NM_001277115.2(DNAH11):c.10867A>G (p.Ile3623Val)
|
rs370443558
|
0.00008
|
NM_001277115.2(DNAH11):c.11081A>T (p.Asn3694Ile)
|
rs528354205
|
0.00008
|
NM_001277115.2(DNAH11):c.12344T>G (p.Ile4115Ser)
|
rs371418299
|
0.00008
|
NM_001277115.2(DNAH11):c.12569G>A (p.Gly4190Asp)
|
rs374787771
|
0.00008
|
NM_001277115.2(DNAH11):c.2829T>G (p.Phe943Leu)
|
rs367640600
|
0.00008
|
NM_001277115.2(DNAH11):c.3356G>A (p.Ser1119Asn)
|
rs754921505
|
0.00008
|
NM_001277115.2(DNAH11):c.3910C>T (p.Arg1304Cys)
|
rs759530635
|
0.00008
|
NM_001277115.2(DNAH11):c.6916G>A (p.Ala2306Thr)
|
rs200223750
|
0.00008
|
NM_001277115.2(DNAH11):c.8698C>T (p.Arg2900Ter)
|
rs368260932
|
0.00008
|
NM_001277115.2(DNAH11):c.8764T>C (p.Phe2922Leu)
|
rs552567607
|
0.00008
|
NM_001364171.2(ODAD1):c.842G>A (p.Arg281His)
|
rs149194036
|
0.00008
|
NM_001369.3(DNAH5):c.13591G>A (p.Glu4531Lys)
|
rs201242847
|
0.00008
|
NM_001369.3(DNAH5):c.2471T>C (p.Ile824Thr)
|
rs147108941
|
0.00008
|
NM_001369.3(DNAH5):c.3202G>C (p.Ala1068Pro)
|
rs200249508
|
0.00008
|
NM_001369.3(DNAH5):c.3428G>A (p.Arg1143His)
|
rs150739124
|
0.00008
|
NM_001369.3(DNAH5):c.4133T>C (p.Ile1378Thr)
|
rs536502106
|
0.00008
|
NM_001369.3(DNAH5):c.464C>T (p.Ala155Val)
|
rs148837179
|
0.00008
|
NM_001369.3(DNAH5):c.7888-4A>G
|
rs775268409
|
0.00008
|
NM_003611.3(OFD1):c.1128A>C (p.Lys376Asn)
|
rs758883184
|
0.00008
|
NM_003611.3(OFD1):c.476T>C (p.Met159Thr)
|
rs141708295
|
0.00008
|
NM_003611.3(OFD1):c.679A>G (p.Ile227Val)
|
rs748477774
|
0.00008
|
NM_012144.4(DNAI1):c.1611C>T (p.Asp537=)
|
rs199502666
|
0.00008
|
NM_012472.6(DNAAF11):c.186T>C (p.Val62=)
|
rs112144537
|
0.00008
|
NM_017802.4(DNAAF5):c.2452G>A (p.Gly818Arg)
|
rs376897902
|
0.00008
|
NM_017802.4(DNAAF5):c.280G>A (p.Ala94Thr)
|
rs1048255936
|
0.00008
|
NM_017802.4(DNAAF5):c.382C>T (p.Pro128Ser)
|
rs998645747
|
0.00008
|
NM_017950.4(CCDC40):c.1068G>A (p.Ser356=)
|
rs377156300
|
0.00008
|
NM_017950.4(CCDC40):c.1105G>A (p.Ala369Thr)
|
rs371071557
|
0.00008
|
NM_017950.4(CCDC40):c.1591G>A (p.Asp531Asn)
|
rs758243927
|
0.00008
|
NM_017950.4(CCDC40):c.1761G>A (p.Arg587=)
|
rs560402881
|
0.00008
|
NM_017950.4(CCDC40):c.2292C>T (p.Asp764=)
|
rs758047721
|
0.00008
|
NM_017950.4(CCDC40):c.2911G>A (p.Val971Ile)
|
rs746632559
|
0.00008
|
NM_017950.4(CCDC40):c.2999G>A (p.Arg1000Gln)
|
rs369512832
|
0.00008
|
NM_017950.4(CCDC40):c.763G>C (p.Glu255Gln)
|
rs763892619
|
0.00008
|
NM_018076.5(ODAD2):c.1386+5G>A
|
rs188691804
|
0.00008
|
NM_018076.5(ODAD2):c.2120G>A (p.Arg707Gln)
|
rs139517333
|
0.00008
|
NM_018076.5(ODAD2):c.803G>T (p.Gly268Val)
|
rs372616728
|
0.00008
|
NM_018139.3(DNAAF2):c.1468A>G (p.Ser490Gly)
|
rs367597118
|
0.00008
|
NM_018139.3(DNAAF2):c.1969C>T (p.Leu657Phe)
|
rs187863107
|
0.00008
|
NM_018139.3(DNAAF2):c.2514A>G (p.Ter838=)
|
rs371013573
|
0.00008
|
NM_018139.3(DNAAF2):c.805C>G (p.Arg269Gly)
|
rs547213676
|
0.00008
|
NM_018139.3(DNAAF2):c.847C>G (p.Leu283Val)
|
rs201544590
|
0.00008
|
NM_023036.6(DNAI2):c.1304G>A (p.Trp435Ter)
|
rs752924362
|
0.00008
|
NM_023036.6(DNAI2):c.855G>A (p.Thr285=)
|
rs144909415
|
0.00008
|
NM_152732.5(RSPH9):c.98T>C (p.Met33Thr)
|
rs374043705
|
0.00008
|
NM_178452.6(DNAAF1):c.1991C>G (p.Thr664Ser)
|
rs139714259
|
0.00008
|
NM_181426.2(CCDC39):c.1728C>T (p.His576=)
|
rs376737530
|
0.00008
|
NM_001010892.3(RSPH4A):c.1563T>C (p.Asn521=)
|
rs143732959
|
0.00007
|
NM_001010892.3(RSPH4A):c.1970A>G (p.Tyr657Cys)
|
rs1230428971
|
0.00007
|
NM_001010892.3(RSPH4A):c.2021A>G (p.Glu674Gly)
|
rs368369580
|
0.00007
|
NM_001256715.2(DNAAF3):c.1256G>A (p.Arg419Gln)
|
rs373489149
|
0.00007
|
NM_001256715.2(DNAAF3):c.660C>T (p.Arg220=)
|
rs762386034
|
0.00007
|
NM_001277115.2(DNAH11):c.10055C>T (p.Thr3352Met)
|
rs369182142
|
0.00007
|
NM_001277115.2(DNAH11):c.10440C>T (p.Thr3480=)
|
rs369013054
|
0.00007
|
NM_001277115.2(DNAH11):c.10986A>G (p.Gly3662=)
|
rs200604870
|
0.00007
|
NM_001277115.2(DNAH11):c.1170G>A (p.Glu390=)
|
rs776924184
|
0.00007
|
NM_001277115.2(DNAH11):c.12406C>T (p.Arg4136Cys)
|
rs368992056
|
0.00007
|
NM_001277115.2(DNAH11):c.13175C>T (p.Thr4392Met)
|
rs181603431
|
0.00007
|
NM_001277115.2(DNAH11):c.13254T>C (p.Tyr4418=)
|
rs527548552
|
0.00007
|
NM_001277115.2(DNAH11):c.1966C>T (p.Arg656Cys)
|
rs780931328
|
0.00007
|
NM_001277115.2(DNAH11):c.2525G>T (p.Arg842Met)
|
rs546817580
|
0.00007
|
NM_001277115.2(DNAH11):c.2576C>T (p.Ala859Val)
|
rs150414068
|
0.00007
|
NM_001277115.2(DNAH11):c.2802A>G (p.Thr934=)
|
rs755239180
|
0.00007
|
NM_001277115.2(DNAH11):c.3635A>G (p.Tyr1212Cys)
|
rs199911435
|
0.00007
|
NM_001277115.2(DNAH11):c.3843G>A (p.Ala1281=)
|
rs374551688
|
0.00007
|
NM_001277115.2(DNAH11):c.4230G>T (p.Trp1410Cys)
|
rs367916239
|
0.00007
|
NM_001277115.2(DNAH11):c.4900G>A (p.Ala1634Thr)
|
rs375527837
|
0.00007
|
NM_001277115.2(DNAH11):c.5294A>G (p.Tyr1765Cys)
|
rs771040551
|
0.00007
|
NM_001277115.2(DNAH11):c.6662C>T (p.Thr2221Ile)
|
rs373624232
|
0.00007
|
NM_001277115.2(DNAH11):c.6983C>T (p.Pro2328Leu)
|
rs745645801
|
0.00007
|
NM_001277115.2(DNAH11):c.806G>T (p.Gly269Val)
|
rs374505775
|
0.00007
|
NM_001277115.2(DNAH11):c.817T>C (p.Ser273Pro)
|
rs368459116
|
0.00007
|
NM_001277115.2(DNAH11):c.9003C>T (p.Ala3001=)
|
rs192542392
|
0.00007
|
NM_001277115.2(DNAH11):c.9376G>A (p.Glu3126Lys)
|
rs767994393
|
0.00007
|
NM_001364171.2(ODAD1):c.1423G>A (p.Asp475Asn)
|
rs199600077
|
0.00007
|
NM_001364171.2(ODAD1):c.1466C>T (p.Pro489Leu)
|
rs768434176
|
0.00007
|
NM_001364171.2(ODAD1):c.1554G>T (p.Glu518Asp)
|
rs140876041
|
0.00007
|
NM_001364171.2(ODAD1):c.2037C>T (p.Leu679=)
|
rs779297766
|
0.00007
|
NM_001364171.2(ODAD1):c.2047A>G (p.Arg683Gly)
|
rs754221492
|
0.00007
|
NM_001364171.2(ODAD1):c.583C>T (p.Arg195Cys)
|
rs377507314
|
0.00007
|
NM_001364171.2(ODAD1):c.996G>A (p.Glu332=)
|
rs148677470
|
0.00007
|
NM_001369.3(DNAH5):c.12217G>A (p.Val4073Met)
|
rs757109346
|
0.00007
|
NM_001369.3(DNAH5):c.13448C>T (p.Thr4483Met)
|
rs141828476
|
0.00007
|
NM_001369.3(DNAH5):c.13689G>C (p.Leu4563Phe)
|
rs374221053
|
0.00007
|
NM_001369.3(DNAH5):c.2732A>G (p.Asn911Ser)
|
rs142386498
|
0.00007
|
NM_001369.3(DNAH5):c.4286A>G (p.Tyr1429Cys)
|
rs141052175
|
0.00007
|
NM_001369.3(DNAH5):c.4331A>G (p.Asn1444Ser)
|
rs567013299
|
0.00007
|
NM_001369.3(DNAH5):c.6053T>C (p.Ile2018Thr)
|
rs117989731
|
0.00007
|
NM_001369.3(DNAH5):c.8059A>G (p.Asn2687Asp)
|
rs139797525
|
0.00007
|
NM_001369.3(DNAH5):c.8387A>G (p.Asp2796Gly)
|
rs727502974
|
0.00007
|
NM_001369.3(DNAH5):c.8398G>A (p.Val2800Ile)
|
rs770453841
|
0.00007
|
NM_003114.5(SPAG1):c.1954A>T (p.Ile652Phe)
|
rs143621160
|
0.00007
|
NM_003114.5(SPAG1):c.2397G>A (p.Pro799=)
|
rs775891909
|
0.00007
|
NM_003114.5(SPAG1):c.495C>T (p.Asp165=)
|
rs768687626
|
0.00007
|
NM_003611.3(OFD1):c.1742G>A (p.Cys581Tyr)
|
rs201230660
|
0.00007
|
NM_003611.3(OFD1):c.1876G>C (p.Glu626Gln)
|
rs146930931
|
0.00007
|
NM_003611.3(OFD1):c.355C>A (p.Pro119Thr)
|
rs202103941
|
0.00007
|
NM_012144.4(DNAI1):c.1822C>A (p.His608Asn)
|
rs148762102
|
0.00007
|
NM_016616.5(NME8):c.311C>T (p.Pro104Leu)
|
rs567620217
|
0.00007
|
NM_017802.4(DNAAF5):c.1996G>A (p.Ala666Thr)
|
rs750935190
|
0.00007
|
NM_017802.4(DNAAF5):c.216C>T (p.Pro72=)
|
rs989746256
|
0.00007
|
NM_017802.4(DNAAF5):c.2551G>A (p.Val851Met)
|
rs201895277
|
0.00007
|
NM_017802.4(DNAAF5):c.412T>G (p.Cys138Gly)
|
rs989778924
|
0.00007
|
NM_017802.4(DNAAF5):c.642G>T (p.Gln214His)
|
rs374875482
|
0.00007
|
NM_017950.4(CCDC40):c.1164G>A (p.Ala388=)
|
rs367861877
|
0.00007
|
NM_017950.4(CCDC40):c.1210A>G (p.Met404Val)
|
rs774090634
|
0.00007
|
NM_017950.4(CCDC40):c.1721C>A (p.Thr574Asn)
|
rs202093340
|
0.00007
|
NM_017950.4(CCDC40):c.2104G>A (p.Val702Met)
|
rs748948064
|
0.00007
|
NM_017950.4(CCDC40):c.2423T>C (p.Met808Thr)
|
rs780626544
|
0.00007
|
NM_017950.4(CCDC40):c.660C>T (p.Phe220=)
|
rs200678214
|
0.00007
|
NM_018076.5(ODAD2):c.1319G>A (p.Arg440His)
|
rs762541691
|
0.00007
|
NM_018076.5(ODAD2):c.1591A>G (p.Ile531Val)
|
rs747804167
|
0.00007
|
NM_018076.5(ODAD2):c.2980G>A (p.Ala994Thr)
|
rs369022423
|
0.00007
|
NM_018139.3(DNAAF2):c.1401C>T (p.Ser467=)
|
rs368961585
|
0.00007
|
NM_018139.3(DNAAF2):c.2191G>C (p.Glu731Gln)
|
rs777882844
|
0.00007
|
NM_018139.3(DNAAF2):c.2440G>T (p.Val814Leu)
|
rs749029870
|
0.00007
|
NM_023036.6(DNAI2):c.1251C>T (p.Pro417=)
|
rs139319121
|
0.00007
|
NM_023036.6(DNAI2):c.284G>A (p.Arg95His)
|
rs201521142
|
0.00007
|
NM_178452.6(DNAAF1):c.1241G>T (p.Gly414Val)
|
rs142105097
|
0.00007
|
NM_178452.6(DNAAF1):c.2155T>C (p.Phe719Leu)
|
rs201263027
|
0.00007
|
NM_181426.2(CCDC39):c.1176T>C (p.Asp392=)
|
rs749497447
|
0.00007
|
NM_181426.2(CCDC39):c.2549C>G (p.Thr850Ser)
|
rs201996796
|
0.00007
|
NM_181426.2(CCDC39):c.357+1G>C
|
rs397515392
|
0.00007
|
NM_181426.2(CCDC39):c.9C>T (p.Ser3=)
|
rs540762763
|
0.00007
|
NC_000019.10:g.55166625C>G
|
rs574117710
|
0.00006
|
NM_001010892.3(RSPH4A):c.1748T>C (p.Ile583Thr)
|
rs141807210
|
0.00006
|
NM_001010892.3(RSPH4A):c.268C>A (p.Pro90Thr)
|
rs530756069
|
0.00006
|
NM_001010892.3(RSPH4A):c.397G>A (p.Asp133Asn)
|
rs976414886
|
0.00006
|
NM_001010892.3(RSPH4A):c.814C>G (p.Gln272Glu)
|
rs752249790
|
0.00006
|
NM_001256715.2(DNAAF3):c.1330G>A (p.Gly444Arg)
|
rs562819833
|
0.00006
|
NM_001256715.2(DNAAF3):c.354G>A (p.Gly118=)
|
rs192924578
|
0.00006
|
NM_001256715.2(DNAAF3):c.391C>T (p.Arg131Cys)
|
rs770679152
|
0.00006
|
NM_001256715.2(DNAAF3):c.86-60A>C
|
rs771361438
|
0.00006
|
NM_001256715.2(DNAAF3):c.890C>T (p.Thr297Met)
|
rs549181425
|
0.00006
|
NM_001277115.2(DNAH11):c.10176C>T (p.Arg3392=)
|
rs370857029
|
0.00006
|
NM_001277115.2(DNAH11):c.10631A>G (p.Glu3544Gly)
|
rs928335497
|
0.00006
|
NM_001277115.2(DNAH11):c.11458G>A (p.Val3820Ile)
|
rs777011433
|
0.00006
|
NM_001277115.2(DNAH11):c.1147C>T (p.Arg383Trp)
|
rs200648006
|
0.00006
|
NM_001277115.2(DNAH11):c.1545T>C (p.Cys515=)
|
rs182332147
|
0.00006
|
NM_001277115.2(DNAH11):c.1711-4A>T
|
rs372207653
|
0.00006
|
NM_001277115.2(DNAH11):c.1720A>G (p.Ile574Val)
|
rs374359812
|
0.00006
|
NM_001277115.2(DNAH11):c.2075G>A (p.Ser692Asn)
|
rs528619219
|
0.00006
|
NM_001277115.2(DNAH11):c.2328G>A (p.Thr776=)
|
rs372387032
|
0.00006
|
NM_001277115.2(DNAH11):c.2402C>T (p.Thr801Met)
|
rs370878968
|
0.00006
|
NM_001277115.2(DNAH11):c.3040C>G (p.Gln1014Glu)
|
rs375314297
|
0.00006
|
NM_001277115.2(DNAH11):c.3541A>G (p.Ser1181Gly)
|
rs148916596
|
0.00006
|
NM_001277115.2(DNAH11):c.3726G>A (p.Ala1242=)
|
rs772101696
|
0.00006
|
NM_001277115.2(DNAH11):c.4951T>C (p.Cys1651Arg)
|
rs374946621
|
0.00006
|
NM_001277115.2(DNAH11):c.6131G>A (p.Arg2044Gln)
|
rs372051486
|
0.00006
|
NM_001277115.2(DNAH11):c.6244C>T (p.Arg2082Ter)
|
rs200693106
|
0.00006
|
NM_001277115.2(DNAH11):c.6514G>C (p.Val2172Leu)
|
rs375008007
|
0.00006
|
NM_001277115.2(DNAH11):c.6780C>T (p.Gly2260=)
|
rs377115580
|
0.00006
|
NM_001277115.2(DNAH11):c.6922C>G (p.Pro2308Ala)
|
rs373358447
|
0.00006
|
NM_001277115.2(DNAH11):c.7279C>G (p.Gln2427Glu)
|
rs202236144
|
0.00006
|
NM_001277115.2(DNAH11):c.7864G>A (p.Ala2622Thr)
|
rs200462132
|
0.00006
|
NM_001277115.2(DNAH11):c.8972C>T (p.Thr2991Met)
|
rs375595192
|
0.00006
|
NM_001277115.2(DNAH11):c.9280G>A (p.Glu3094Lys)
|
rs368259931
|
0.00006
|
NM_001277115.2(DNAH11):c.9487A>G (p.Thr3163Ala)
|
rs373850047
|
0.00006
|
NM_001277115.2(DNAH11):c.991G>A (p.Glu331Lys)
|
rs550602612
|
0.00006
|
NM_001364171.2(ODAD1):c.1640C>T (p.Ala547Val)
|
rs776156161
|
0.00006
|
NM_001364171.2(ODAD1):c.2117G>A (p.Arg706Gln)
|
rs539314807
|
0.00006
|
NM_001364171.2(ODAD1):c.276C>G (p.Asn92Lys)
|
rs753389945
|
0.00006
|
NM_001364171.2(ODAD1):c.708G>A (p.Ala236=)
|
rs755132968
|
0.00006
|
NM_001369.3(DNAH5):c.10330C>T (p.Leu3444=)
|
rs201881960
|
0.00006
|
NM_001369.3(DNAH5):c.10377C>T (p.Asp3459=)
|
rs139317626
|
0.00006
|
NM_001369.3(DNAH5):c.10616G>A (p.Arg3539His)
|
rs769458738
|
0.00006
|
NM_001369.3(DNAH5):c.10785G>A (p.Thr3595=)
|
rs144055129
|
0.00006
|
NM_001369.3(DNAH5):c.12165C>A (p.Pro4055=)
|
rs138781046
|
0.00006
|
NM_001369.3(DNAH5):c.13155A>T (p.Pro4385=)
|
rs202103048
|
0.00006
|
NM_001369.3(DNAH5):c.1638C>A (p.Asp546Glu)
|
rs375037194
|
0.00006
|
NM_001369.3(DNAH5):c.2577+5T>C
|
rs201596289
|
0.00006
|
NM_001369.3(DNAH5):c.2708A>C (p.Asn903Thr)
|
rs749503841
|
0.00006
|
NM_001369.3(DNAH5):c.3210G>C (p.Gln1070His)
|
rs372974399
|
0.00006
|
NM_001369.3(DNAH5):c.5676T>A (p.Ile1892=)
|
rs144828347
|
0.00006
|
NM_001369.3(DNAH5):c.573C>T (p.Asp191=)
|
rs773770450
|
0.00006
|
NM_001369.3(DNAH5):c.5907T>C (p.Ala1969=)
|
rs569572855
|
0.00006
|
NM_001369.3(DNAH5):c.632C>T (p.Ser211Leu)
|
rs139857637
|
0.00006
|
NM_001369.3(DNAH5):c.6747C>T (p.Phe2249=)
|
rs568499996
|
0.00006
|
NM_001369.3(DNAH5):c.7091G>C (p.Gly2364Ala)
|
rs373657849
|
0.00006
|
NM_001369.3(DNAH5):c.7741A>G (p.Lys2581Glu)
|
rs142302585
|
0.00006
|
NM_003114.5(SPAG1):c.1084G>A (p.Gly362Ser)
|
rs755866717
|
0.00006
|
NM_003114.5(SPAG1):c.2458A>G (p.Lys820Glu)
|
rs369552222
|
0.00006
|
NM_003611.3(OFD1):c.1930C>T (p.Arg644Cys)
|
rs185831378
|
0.00006
|
NM_003611.3(OFD1):c.2584T>G (p.Ser862Ala)
|
rs797045846
|
0.00006
|
NM_003611.3(OFD1):c.2647C>T (p.Arg883Trp)
|
rs149790559
|
0.00006
|
NM_003611.3(OFD1):c.451C>T (p.His151Tyr)
|
rs137993158
|
0.00006
|
NM_012144.4(DNAI1):c.1417A>G (p.Ile473Val)
|
rs199774301
|
0.00006
|
NM_012144.4(DNAI1):c.1644G>A (p.Trp548Ter)
|
rs200669099
|
0.00006
|
NM_012144.4(DNAI1):c.658A>G (p.Asn220Asp)
|
rs201974671
|
0.00006
|
NM_016616.5(NME8):c.793G>T (p.Gly265Ter)
|
rs191578224
|
0.00006
|
NM_016616.5(NME8):c.967C>A (p.Arg323=)
|
rs374455803
|
0.00006
|
NM_017802.4(DNAAF5):c.1246G>A (p.Val416Met)
|
rs775542739
|
0.00006
|
NM_017802.4(DNAAF5):c.1371C>T (p.Ala457=)
|
rs568531246
|
0.00006
|
NM_017802.4(DNAAF5):c.1598C>T (p.Thr533Ile)
|
rs775678178
|
0.00006
|
NM_017802.4(DNAAF5):c.2003G>C (p.Arg668Thr)
|
rs555500022
|
0.00006
|
NM_017802.4(DNAAF5):c.2251C>T (p.Arg751Cys)
|
rs779271163
|
0.00006
|
NM_017802.4(DNAAF5):c.49G>A (p.Glu17Lys)
|
rs987496902
|
0.00006
|
NM_017802.4(DNAAF5):c.500C>G (p.Ala167Gly)
|
rs1391723138
|
0.00006
|
NM_017802.4(DNAAF5):c.623T>C (p.Leu208Pro)
|
rs377581183
|
0.00006
|
NM_017950.4(CCDC40):c.113A>G (p.Asp38Gly)
|
rs1060501718
|
0.00006
|
NM_017950.4(CCDC40):c.1372G>A (p.Ala458Thr)
|
rs372976809
|
0.00006
|
NM_017950.4(CCDC40):c.2609G>A (p.Arg870His)
|
rs373717036
|
0.00006
|
NM_017950.4(CCDC40):c.3063A>G (p.Glu1021=)
|
rs200650391
|
0.00006
|
NM_017950.4(CCDC40):c.3354C>T (p.Tyr1118=)
|
rs374909386
|
0.00006
|
NM_017950.4(CCDC40):c.489C>T (p.His163=)
|
rs372917306
|
0.00006
|
NM_017950.4(CCDC40):c.661G>A (p.Val221Ile)
|
rs371890970
|
0.00006
|
NM_018076.5(ODAD2):c.1189C>T (p.Leu397Phe)
|
rs753807004
|
0.00006
|
NM_018076.5(ODAD2):c.1594G>A (p.Val532Ile)
|
rs140950719
|
0.00006
|
NM_018076.5(ODAD2):c.2347T>A (p.Cys783Ser)
|
rs767169905
|
0.00006
|
NM_018139.3(DNAAF2):c.1582A>C (p.Asn528His)
|
rs553512675
|
0.00006
|
NM_018139.3(DNAAF2):c.1674A>G (p.Lys558=)
|
rs368097316
|
0.00006
|
NM_018139.3(DNAAF2):c.519G>C (p.Glu173Asp)
|
rs753601740
|
0.00006
|
NM_018139.3(DNAAF2):c.734C>T (p.Ala245Val)
|
rs754858452
|
0.00006
|
NM_023036.6(DNAI2):c.337C>T (p.Leu113Phe)
|
rs545425948
|
0.00006
|
NM_023036.6(DNAI2):c.396G>A (p.Glu132=)
|
rs777369529
|
0.00006
|
NM_152732.5(RSPH9):c.276G>A (p.Met92Ile)
|
rs147713380
|
0.00006
|
NM_152732.5(RSPH9):c.328G>A (p.Glu110Lys)
|
rs150021750
|
0.00006
|
NM_152732.5(RSPH9):c.466C>T (p.Arg156Ter)
|
rs376496894
|
0.00006
|
NM_178452.6(DNAAF1):c.1828T>G (p.Ser610Ala)
|
rs2088636324
|
0.00006
|
NM_178452.6(DNAAF1):c.2080G>A (p.Ala694Thr)
|
rs376164700
|
0.00006
|
NM_178452.6(DNAAF1):c.768G>A (p.Pro256=)
|
rs142601761
|
0.00006
|
NM_181426.2(CCDC39):c.2005C>A (p.Gln669Lys)
|
rs751147958
|
0.00006
|
NM_000328.3(RPGR):c.2152T>C (p.Tyr718His)
|
rs762173989
|
0.00005
|
NM_000328.3(RPGR):c.2303C>T (p.Pro768Leu)
|
rs757080712
|
0.00005
|
NM_001010892.3(RSPH4A):c.1247C>T (p.Ala416Val)
|
rs61738662
|
0.00005
|
NM_001010892.3(RSPH4A):c.1351C>T (p.Gln451Ter)
|
rs750528020
|
0.00005
|
NM_001010892.3(RSPH4A):c.1377G>A (p.Lys459=)
|
rs563352149
|
0.00005
|
NM_001010892.3(RSPH4A):c.413C>A (p.Thr138Asn)
|
rs545486771
|
0.00005
|
NM_001010892.3(RSPH4A):c.650A>C (p.Tyr217Ser)
|
rs762313827
|
0.00005
|
NM_001010892.3(RSPH4A):c.896T>C (p.Val299Ala)
|
rs750281532
|
0.00005
|
NM_001010892.3(RSPH4A):c.99A>G (p.Gln33=)
|
rs139855630
|
0.00005
|
NM_001034853.2(RPGR):c.415G>A (p.Glu139Lys)
|
rs62638645
|
0.00005
|
NM_001034853.2(RPGR):c.967C>T (p.Arg323Cys)
|
rs757712647
|
0.00005
|
NM_001256715.2(DNAAF3):c.1393A>G (p.Thr465Ala)
|
rs767754398
|
0.00005
|
NM_001256715.2(DNAAF3):c.426C>G (p.Pro142=)
|
rs981566868
|
0.00005
|
NM_001256715.2(DNAAF3):c.939C>A (p.Asn313Lys)
|
rs746451553
|
0.00005
|
NM_001277115.2(DNAH11):c.10328A>G (p.Gln3443Arg)
|
rs769152755
|
0.00005
|
NM_001277115.2(DNAH11):c.10622A>G (p.Glu3541Gly)
|
rs773188999
|
0.00005
|
NM_001277115.2(DNAH11):c.10669A>G (p.Arg3557Gly)
|
rs375507992
|
0.00005
|
NM_001277115.2(DNAH11):c.10796A>G (p.Gln3599Arg)
|
rs371437266
|
0.00005
|
NM_001277115.2(DNAH11):c.10978G>C (p.Ala3660Pro)
|
rs200057913
|
0.00005
|
NM_001277115.2(DNAH11):c.11114A>G (p.Tyr3705Cys)
|
rs370580628
|
0.00005
|
NM_001277115.2(DNAH11):c.1138A>C (p.Thr380Pro)
|
rs755525098
|
0.00005
|
NM_001277115.2(DNAH11):c.13165A>G (p.Ile4389Val)
|
rs763695891
|
0.00005
|
NM_001277115.2(DNAH11):c.1411T>G (p.Leu471Val)
|
rs536932803
|
0.00005
|
NM_001277115.2(DNAH11):c.1565C>T (p.Thr522Ile)
|
rs192594614
|
0.00005
|
NM_001277115.2(DNAH11):c.1688A>G (p.Asn563Ser)
|
rs746506506
|
0.00005
|
NM_001277115.2(DNAH11):c.2050A>T (p.Ser684Cys)
|
rs367670668
|
0.00005
|
NM_001277115.2(DNAH11):c.2693A>G (p.Asn898Ser)
|
rs375459428
|
0.00005
|
NM_001277115.2(DNAH11):c.2750A>T (p.Glu917Val)
|
rs543944909
|
0.00005
|
NM_001277115.2(DNAH11):c.3600G>A (p.Leu1200=)
|
rs368872150
|
0.00005
|
NM_001277115.2(DNAH11):c.3697A>G (p.Arg1233Gly)
|
rs757895588
|
0.00005
|
NM_001277115.2(DNAH11):c.4159G>A (p.Val1387Ile)
|
rs140876382
|
0.00005
|
NM_001277115.2(DNAH11):c.4519C>T (p.Leu1507Phe)
|
rs545466506
|
0.00005
|
NM_001277115.2(DNAH11):c.4624A>G (p.Thr1542Ala)
|
rs749457758
|
0.00005
|
NM_001277115.2(DNAH11):c.5295C>T (p.Tyr1765=)
|
rs377687532
|
0.00005
|
NM_001277115.2(DNAH11):c.6018G>A (p.Pro2006=)
|
rs368842512
|
0.00005
|
NM_001277115.2(DNAH11):c.6351C>T (p.Val2117=)
|
rs535218781
|
0.00005
|
NM_001277115.2(DNAH11):c.647C>T (p.Thr216Ile)
|
rs375238384
|
0.00005
|
NM_001277115.2(DNAH11):c.663G>T (p.Met221Ile)
|
rs371426283
|
0.00005
|
NM_001277115.2(DNAH11):c.7973A>G (p.Tyr2658Cys)
|
rs377216163
|
0.00005
|
NM_001277115.2(DNAH11):c.8336T>C (p.Leu2779Pro)
|
rs770508431
|
0.00005
|
NM_001277115.2(DNAH11):c.8552C>G (p.Ala2851Gly)
|
rs766265779
|
0.00005
|
NM_001277115.2(DNAH11):c.8699G>A (p.Arg2900Gln)
|
rs534013804
|
0.00005
|
NM_001277115.2(DNAH11):c.9089C>A (p.Thr3030Asn)
|
rs202014541
|
0.00005
|
NM_001277115.2(DNAH11):c.9325A>T (p.Thr3109Ser)
|
rs202139668
|
0.00005
|
NM_001277115.2(DNAH11):c.998A>G (p.Gln333Arg)
|
rs878854450
|
0.00005
|
NM_001364171.2(ODAD1):c.1079A>T (p.Glu360Val)
|
rs759585116
|
0.00005
|
NM_001364171.2(ODAD1):c.1092C>T (p.Ser364=)
|
rs751571535
|
0.00005
|
NM_001364171.2(ODAD1):c.1842G>A (p.Thr614=)
|
rs368560284
|
0.00005
|
NM_001364171.2(ODAD1):c.1957G>A (p.Val653Met)
|
rs780679601
|
0.00005
|
NM_001364171.2(ODAD1):c.377C>T (p.Thr126Met)
|
rs137875815
|
0.00005
|
NM_001364171.2(ODAD1):c.785A>G (p.His262Arg)
|
rs575514518
|
0.00005
|
NM_001369.3(DNAH5):c.10041G>T (p.Met3347Ile)
|
rs536239913
|
0.00005
|
NM_001369.3(DNAH5):c.10472C>T (p.Thr3491Met)
|
rs760010021
|
0.00005
|
NM_001369.3(DNAH5):c.11577C>G (p.Val3859=)
|
rs756829670
|
0.00005
|
NM_001369.3(DNAH5):c.11826A>G (p.Thr3942=)
|
rs140220517
|
0.00005
|
NM_001369.3(DNAH5):c.12104C>T (p.Thr4035Met)
|
rs200894344
|
0.00005
|
NM_001369.3(DNAH5):c.12473G>A (p.Arg4158Gln)
|
rs376927687
|
0.00005
|
NM_001369.3(DNAH5):c.12690C>T (p.Asp4230=)
|
rs531483632
|
0.00005
|
NM_001369.3(DNAH5):c.1304C>T (p.Ala435Val)
|
rs766164602
|
0.00005
|
NM_001369.3(DNAH5):c.13072C>T (p.Arg4358Trp)
|
rs753960777
|
0.00005
|
NM_001369.3(DNAH5):c.1501A>G (p.Ile501Val)
|
rs185103857
|
0.00005
|
NM_001369.3(DNAH5):c.1612G>A (p.Glu538Lys)
|
rs141651575
|
0.00005
|
NM_001369.3(DNAH5):c.1958C>T (p.Thr653Met)
|
rs201020293
|
0.00005
|
NM_001369.3(DNAH5):c.1975A>G (p.Ile659Val)
|
rs763360696
|
0.00005
|
NM_001369.3(DNAH5):c.2079G>A (p.Glu693=)
|
rs565939224
|
0.00005
|
NM_001369.3(DNAH5):c.2368G>A (p.Ala790Thr)
|
rs201417702
|
0.00005
|
NM_001369.3(DNAH5):c.250T>C (p.Tyr84His)
|
rs1159823492
|
0.00005
|
NM_001369.3(DNAH5):c.300G>C (p.Gly100=)
|
rs543407739
|
0.00005
|
NM_001369.3(DNAH5):c.3037A>G (p.Ser1013Gly)
|
rs369783406
|
0.00005
|
NM_001369.3(DNAH5):c.3302T>C (p.Val1101Ala)
|
rs376453450
|
0.00005
|
NM_001369.3(DNAH5):c.3655C>T (p.Arg1219Cys)
|
rs745321705
|
0.00005
|
NM_001369.3(DNAH5):c.4262G>A (p.Ser1421Asn)
|
rs774855042
|
0.00005
|
NM_001369.3(DNAH5):c.4338C>G (p.Leu1446=)
|
rs377432140
|
0.00005
|
NM_001369.3(DNAH5):c.4614G>A (p.Ala1538=)
|
rs78667898
|
0.00005
|
NM_001369.3(DNAH5):c.4867G>A (p.Glu1623Lys)
|
rs147339019
|
0.00005
|
NM_001369.3(DNAH5):c.537G>A (p.Thr179=)
|
rs370805321
|
0.00005
|
NM_001369.3(DNAH5):c.5425G>A (p.Ala1809Thr)
|
rs758513686
|
0.00005
|
NM_001369.3(DNAH5):c.6249G>A (p.Met2083Ile)
|
rs753614861
|
0.00005
|
NM_001369.3(DNAH5):c.6632A>G (p.Asn2211Ser)
|
rs561280268
|
0.00005
|
NM_001369.3(DNAH5):c.6659C>T (p.Pro2220Leu)
|
rs144308691
|
0.00005
|
NM_001369.3(DNAH5):c.6779C>T (p.Thr2260Ile)
|
rs370292438
|
0.00005
|
NM_001369.3(DNAH5):c.8395C>T (p.Arg2799Trp)
|
rs542159073
|
0.00005
|
NM_001369.3(DNAH5):c.8815G>A (p.Val2939Ile)
|
rs566080915
|
0.00005
|
NM_001369.3(DNAH5):c.9218A>G (p.Tyr3073Cys)
|
rs138505566
|
0.00005
|
NM_001369.3(DNAH5):c.9718A>G (p.Met3240Val)
|
rs780654245
|
0.00005
|
NM_003114.5(SPAG1):c.2084A>G (p.Tyr695Cys)
|
rs146786187
|
0.00005
|
NM_003114.5(SPAG1):c.401C>T (p.Ser134Leu)
|
rs934869420
|
0.00005
|
NM_003114.5(SPAG1):c.542C>T (p.Thr181Met)
|
rs373564145
|
0.00005
|
NM_003114.5(SPAG1):c.560A>C (p.His187Pro)
|
rs140986857
|
0.00005
|
NM_003611.3(OFD1):c.2523C>T (p.Gly841=)
|
rs757258869
|
0.00005
|
NM_003611.3(OFD1):c.2726G>A (p.Arg909Gln)
|
rs371848382
|
0.00005
|
NM_003611.3(OFD1):c.567G>A (p.Gln189=)
|
rs375104416
|
0.00005
|
NM_003611.3(OFD1):c.858G>A (p.Arg286=)
|
rs778507612
|
0.00005
|
NM_003611.3(OFD1):c.878T>C (p.Met293Thr)
|
rs189679507
|
0.00005
|
NM_012144.4(DNAI1):c.1153G>A (p.Gly385Ser)
|
rs201157845
|
0.00005
|
NM_012144.4(DNAI1):c.1215C>T (p.Asp405=)
|
rs376177487
|
0.00005
|
NM_012144.4(DNAI1):c.1407G>T (p.Lys469Asn)
|
rs189377425
|
0.00005
|
NM_012144.4(DNAI1):c.1490G>A (p.Gly497Asp)
|
rs376252276
|
0.00005
|
NM_012144.4(DNAI1):c.1999A>G (p.Lys667Glu)
|
rs560719255
|
0.00005
|
NM_012144.4(DNAI1):c.2064G>A (p.Leu688=)
|
rs750785483
|
0.00005
|
NM_012144.4(DNAI1):c.522A>G (p.Glu174=)
|
rs534713601
|
0.00005
|
NM_012144.4(DNAI1):c.644C>T (p.Pro215Leu)
|
rs755122846
|
0.00005
|
NM_012144.4(DNAI1):c.660C>T (p.Asn220=)
|
rs146015192
|
0.00005
|
NM_012472.6(DNAAF11):c.1173A>G (p.Ala391=)
|
rs139786749
|
0.00005
|
NM_012472.6(DNAAF11):c.1268A>G (p.His423Arg)
|
rs1030551584
|
0.00005
|
NM_016616.5(NME8):c.1467T>C (p.Thr489=)
|
rs141799366
|
0.00005
|
NM_016616.5(NME8):c.172G>A (p.Glu58Lys)
|
rs369542497
|
0.00005
|
NM_016616.5(NME8):c.1735A>G (p.Asn579Asp)
|
rs775868906
|
0.00005
|
NM_016616.5(NME8):c.416A>T (p.Asp139Val)
|
rs754343759
|
0.00005
|
NM_016616.5(NME8):c.829T>C (p.Tyr277His)
|
rs138867361
|
0.00005
|
NM_017802.4(DNAAF5):c.1247T>C (p.Val416Ala)
|
rs762606868
|
0.00005
|
NM_017802.4(DNAAF5):c.1487G>A (p.Arg496His)
|
rs149610399
|
0.00005
|
NM_017802.4(DNAAF5):c.1645G>T (p.Val549Leu)
|
rs746007264
|
0.00005
|
NM_017802.4(DNAAF5):c.1715C>T (p.Ala572Val)
|
rs147690117
|
0.00005
|
NM_017802.4(DNAAF5):c.1848C>T (p.Ser616=)
|
rs373040691
|
0.00005
|
NM_017802.4(DNAAF5):c.1976C>T (p.Ala659Val)
|
rs137924231
|
0.00005
|
NM_017802.4(DNAAF5):c.2526G>A (p.Glu842=)
|
rs772910548
|
0.00005
|
NM_017802.4(DNAAF5):c.466T>G (p.Cys156Gly)
|
rs1309780632
|
0.00005
|
NM_017802.4(DNAAF5):c.827T>G (p.Leu276Arg)
|
rs968867319
|
0.00005
|
NM_017950.4(CCDC40):c.1127C>G (p.Thr376Ser)
|
rs372392201
|
0.00005
|
NM_017950.4(CCDC40):c.1680G>A (p.Thr560=)
|
rs201481334
|
0.00005
|
NM_017950.4(CCDC40):c.2374G>C (p.Glu792Gln)
|
rs750185131
|
0.00005
|
NM_017950.4(CCDC40):c.3288G>A (p.Glu1096=)
|
rs373348755
|
0.00005
|
NM_017950.4(CCDC40):c.506C>T (p.Ser169Leu)
|
rs369066468
|
0.00005
|
NM_018076.5(ODAD2):c.12T>G (p.Ala4=)
|
rs757096123
|
0.00005
|
NM_018076.5(ODAD2):c.1484G>A (p.Gly495Asp)
|
rs138924660
|
0.00005
|
NM_018076.5(ODAD2):c.1619T>C (p.Met540Thr)
|
rs199836959
|
0.00005
|
NM_018076.5(ODAD2):c.1922T>C (p.Leu641Pro)
|
rs748101941
|
0.00005
|
NM_018076.5(ODAD2):c.2257C>T (p.Arg753Trp)
|
rs763662864
|
0.00005
|
NM_018076.5(ODAD2):c.2560G>A (p.Val854Met)
|
rs371924761
|
0.00005
|
NM_018076.5(ODAD2):c.2823T>G (p.His941Gln)
|
rs575075615
|
0.00005
|
NM_018076.5(ODAD2):c.2909G>A (p.Arg970His)
|
rs772636599
|
0.00005
|
NM_018076.5(ODAD2):c.2941C>T (p.Arg981Trp)
|
rs143072735
|
0.00005
|
NM_018076.5(ODAD2):c.2944G>A (p.Ala982Thr)
|
rs146309511
|
0.00005
|
NM_018139.3(DNAAF2):c.1612A>C (p.Ile538Leu)
|
rs531303883
|
0.00005
|
NM_018139.3(DNAAF2):c.2380A>G (p.Thr794Ala)
|
rs759164637
|
0.00005
|
NM_018139.3(DNAAF2):c.2503G>T (p.Asp835Tyr)
|
rs368195964
|
0.00005
|
NM_018139.3(DNAAF2):c.270G>C (p.Val90=)
|
rs767758073
|
0.00005
|
NM_018139.3(DNAAF2):c.834C>G (p.Pro278=)
|
rs778820253
|
0.00005
|
NM_018139.3(DNAAF2):c.968C>G (p.Pro323Arg)
|
rs750921798
|
0.00005
|
NM_023036.6(DNAI2):c.1000A>G (p.Met334Val)
|
rs779742315
|
0.00005
|
NM_023036.6(DNAI2):c.146C>T (p.Thr49Met)
|
rs374715330
|
0.00005
|
NM_023036.6(DNAI2):c.1513C>T (p.Arg505Trp)
|
rs753933951
|
0.00005
|
NM_023036.6(DNAI2):c.531G>T (p.Lys177Asn)
|
rs776667942
|
0.00005
|
NM_023036.6(DNAI2):c.891G>A (p.Met297Ile)
|
rs750750518
|
0.00005
|
NM_152732.5(RSPH9):c.198C>T (p.Asp66=)
|
rs769502631
|
0.00005
|
NM_152732.5(RSPH9):c.719G>A (p.Arg240His)
|
rs143815397
|
0.00005
|
NM_152732.5(RSPH9):c.745T>A (p.Phe249Ile)
|
rs558538408
|
0.00005
|
NM_152732.5(RSPH9):c.746T>C (p.Phe249Ser)
|
rs570578504
|
0.00005
|
NM_178452.6(DNAAF1):c.1423C>T (p.Leu475=)
|
rs368651695
|
0.00005
|
NM_178452.6(DNAAF1):c.1508C>T (p.Pro503Leu)
|
rs557532640
|
0.00005
|
NM_178452.6(DNAAF1):c.1737G>C (p.Leu579Phe)
|
rs148622974
|
0.00005
|
NM_178452.6(DNAAF1):c.270A>T (p.Lys90Asn)
|
rs372387895
|
0.00005
|
NM_178452.6(DNAAF1):c.873G>A (p.Ala291=)
|
rs149704838
|
0.00005
|
NM_181426.2(CCDC39):c.1387C>T (p.Arg463Trp)
|
rs368870111
|
0.00005
|
NM_181426.2(CCDC39):c.1388G>A (p.Arg463Gln)
|
rs747905187
|
0.00005
|
NM_181426.2(CCDC39):c.141G>A (p.Glu47=)
|
rs373164355
|
0.00005
|
NM_181426.2(CCDC39):c.1874G>T (p.Ser625Ile)
|
rs769223754
|
0.00005
|
NM_181426.2(CCDC39):c.1886G>A (p.Arg629His)
|
rs368439919
|
0.00005
|
NM_181426.2(CCDC39):c.2291T>C (p.Ile764Thr)
|
rs372308915
|
0.00005
|
NM_181426.2(CCDC39):c.2343T>C (p.Tyr781=)
|
rs781474629
|
0.00005
|
NM_181426.2(CCDC39):c.261G>T (p.Lys87Asn)
|
rs575350719
|
0.00005
|
NM_000328.3(RPGR):c.2101G>A (p.Ala701Thr)
|
rs781185543
|
0.00004
|
NM_001010892.3(RSPH4A):c.1006C>T (p.Arg336Cys)
|
rs746613781
|
0.00004
|
NM_001010892.3(RSPH4A):c.1333C>T (p.Pro445Ser)
|
rs146636625
|
0.00004
|
NM_001010892.3(RSPH4A):c.157C>T (p.Arg53Cys)
|
rs752508743
|
0.00004
|
NM_001010892.3(RSPH4A):c.25C>A (p.Gln9Lys)
|
rs139499008
|
0.00004
|
NM_001010892.3(RSPH4A):c.35A>T (p.Glu12Val)
|
rs377656819
|
0.00004
|
NM_001034853.2(RPGR):c.1170T>G (p.Phe390Leu)
|
rs765979499
|
0.00004
|
NM_001034853.2(RPGR):c.1508C>G (p.Thr503Arg)
|
rs374555833
|
0.00004
|
NM_001256715.2(DNAAF3):c.-15G>C
|
rs541817053
|
0.00004
|
NM_001256715.2(DNAAF3):c.1088C>T (p.Pro363Leu)
|
rs371601529
|
0.00004
|
NM_001256715.2(DNAAF3):c.1089G>A (p.Pro363=)
|
rs368469150
|
0.00004
|
NM_001256715.2(DNAAF3):c.433G>A (p.Asp145Asn)
|
rs1442451142
|
0.00004
|
NM_001256715.2(DNAAF3):c.655G>T (p.Asp219Tyr)
|
rs774308427
|
0.00004
|
NM_001256715.2(DNAAF3):c.743A>C (p.Tyr248Ser)
|
rs756236772
|
0.00004
|
NM_001256715.2(DNAAF3):c.988A>G (p.Thr330Ala)
|
rs775837121
|
0.00004
|
NM_001277115.2(DNAH11):c.1003G>A (p.Val335Met)
|
rs562105878
|
0.00004
|
NM_001277115.2(DNAH11):c.10090C>T (p.Arg3364Trp)
|
rs377042231
|
0.00004
|
NM_001277115.2(DNAH11):c.10791A>G (p.Gln3597=)
|
rs1050560432
|
0.00004
|
NM_001277115.2(DNAH11):c.10953C>T (p.Asp3651=)
|
rs766635238
|
0.00004
|
NM_001277115.2(DNAH11):c.11254G>A (p.Asp3752Asn)
|
rs370395919
|
0.00004
|
NM_001277115.2(DNAH11):c.11267G>A (p.Arg3756His)
|
rs554657293
|
0.00004
|
NM_001277115.2(DNAH11):c.11363T>C (p.Met3788Thr)
|
rs374799169
|
0.00004
|
NM_001277115.2(DNAH11):c.11670C>T (p.Asp3890=)
|
rs548184198
|
0.00004
|
NM_001277115.2(DNAH11):c.11695T>G (p.Phe3899Val)
|
rs751430515
|
0.00004
|
NM_001277115.2(DNAH11):c.12948A>G (p.Leu4316=)
|
rs746607145
|
0.00004
|
NM_001277115.2(DNAH11):c.13310G>A (p.Arg4437His)
|
rs775606157
|
0.00004
|
NM_001277115.2(DNAH11):c.13429G>A (p.Glu4477Lys)
|
rs551275210
|
0.00004
|
NM_001277115.2(DNAH11):c.168C>G (p.Asp56Glu)
|
rs978373825
|
0.00004
|
NM_001277115.2(DNAH11):c.1700C>G (p.Ala567Gly)
|
rs545970834
|
0.00004
|
NM_001277115.2(DNAH11):c.2156A>G (p.Asn719Ser)
|
rs551038953
|
0.00004
|
NM_001277115.2(DNAH11):c.2243C>T (p.Ala748Val)
|
rs372819257
|
0.00004
|
NM_001277115.2(DNAH11):c.2248T>G (p.Phe750Val)
|
rs776959465
|
0.00004
|
NM_001277115.2(DNAH11):c.2464G>A (p.Glu822Lys)
|
rs200388651
|
0.00004
|
NM_001277115.2(DNAH11):c.2547A>G (p.Leu849=)
|
rs535761458
|
0.00004
|
NM_001277115.2(DNAH11):c.3025C>G (p.Leu1009Val)
|
rs542059067
|
0.00004
|
NM_001277115.2(DNAH11):c.4106C>T (p.Ser1369Leu)
|
rs768789429
|
0.00004
|
NM_001277115.2(DNAH11):c.4168A>G (p.Met1390Val)
|
rs759282487
|
0.00004
|
NM_001277115.2(DNAH11):c.4777A>G (p.Arg1593Gly)
|
rs781652233
|
0.00004
|
NM_001277115.2(DNAH11):c.4876C>G (p.Pro1626Ala)
|
rs372273069
|
0.00004
|
NM_001277115.2(DNAH11):c.5296G>A (p.Glu1766Lys)
|
rs371235859
|
0.00004
|
NM_001277115.2(DNAH11):c.5591C>G (p.Pro1864Arg)
|
rs367858452
|
0.00004
|
NM_001277115.2(DNAH11):c.5669C>G (p.Ala1890Gly)
|
rs772740368
|
0.00004
|
NM_001277115.2(DNAH11):c.5850C>T (p.Ile1950=)
|
rs377208329
|
0.00004
|
NM_001277115.2(DNAH11):c.5864T>A (p.Leu1955Gln)
|
rs370052217
|
0.00004
|
NM_001277115.2(DNAH11):c.6143C>G (p.Thr2048Arg)
|
rs184241449
|
0.00004
|
NM_001277115.2(DNAH11):c.6847G>A (p.Ala2283Thr)
|
rs372264255
|
0.00004
|
NM_001277115.2(DNAH11):c.698C>T (p.Pro233Leu)
|
rs776376992
|
0.00004
|
NM_001277115.2(DNAH11):c.7511A>G (p.Lys2504Arg)
|
rs775730577
|
0.00004
|
NM_001277115.2(DNAH11):c.7631C>T (p.Ser2544Phe)
|
rs567433822
|
0.00004
|
NM_001277115.2(DNAH11):c.8343A>C (p.Gln2781His)
|
rs568636384
|
0.00004
|
NM_001277115.2(DNAH11):c.8778T>G (p.Ile2926Met)
|
rs781151745
|
0.00004
|
NM_001277115.2(DNAH11):c.8878A>G (p.Met2960Val)
|
rs766857244
|
0.00004
|
NM_001277115.2(DNAH11):c.9292C>T (p.Arg3098Cys)
|
rs769695221
|
0.00004
|
NM_001364171.2(ODAD1):c.1026C>T (p.Asn342=)
|
rs760712197
|
0.00004
|
NM_001364171.2(ODAD1):c.1313G>A (p.Ser438Asn)
|
rs201757586
|
0.00004
|
NM_001364171.2(ODAD1):c.1661G>C (p.Ser554Thr)
|
rs774702006
|
0.00004
|
NM_001364171.2(ODAD1):c.1786C>T (p.His596Tyr)
|
rs779854692
|
0.00004
|
NM_001364171.2(ODAD1):c.199C>T (p.Arg67Trp)
|
rs763939366
|
0.00004
|
NM_001364171.2(ODAD1):c.2116C>T (p.Arg706Trp)
|
rs200369693
|
0.00004
|
NM_001364171.2(ODAD1):c.584G>A (p.Arg195His)
|
rs367890715
|
0.00004
|
NM_001364171.2(ODAD1):c.612G>A (p.Leu204=)
|
rs760703306
|
0.00004
|
NM_001364171.2(ODAD1):c.811C>T (p.Arg271Trp)
|
rs141590182
|
0.00004
|
NM_001369.3(DNAH5):c.10384C>T (p.Gln3462Ter)
|
rs571919972
|
0.00004
|
NM_001369.3(DNAH5):c.12147G>C (p.Leu4049=)
|
rs893230187
|
0.00004
|
NM_001369.3(DNAH5):c.12171T>C (p.Asp4057=)
|
rs181510043
|
0.00004
|
NM_001369.3(DNAH5):c.1240A>G (p.Asn414Asp)
|
rs143391709
|
0.00004
|
NM_001369.3(DNAH5):c.12685G>A (p.Asp4229Asn)
|
rs746241201
|
0.00004
|
NM_001369.3(DNAH5):c.13449G>A (p.Thr4483=)
|
rs768159386
|
0.00004
|
NM_001369.3(DNAH5):c.1586G>A (p.Arg529Gln)
|
rs761289479
|
0.00004
|
NM_001369.3(DNAH5):c.1982G>A (p.Arg661His)
|
rs185855852
|
0.00004
|
NM_001369.3(DNAH5):c.2462A>G (p.Asn821Ser)
|
rs750670743
|
0.00004
|
NM_001369.3(DNAH5):c.2480G>A (p.Arg827His)
|
rs141969815
|
0.00004
|
NM_001369.3(DNAH5):c.2722A>C (p.Asn908His)
|
rs139235944
|
0.00004
|
NM_001369.3(DNAH5):c.2944C>T (p.Arg982Cys)
|
rs143673459
|
0.00004
|
NM_001369.3(DNAH5):c.3248A>T (p.Glu1083Val)
|
rs370697884
|
0.00004
|
NM_001369.3(DNAH5):c.3321T>C (p.Tyr1107=)
|
rs1224429992
|
0.00004
|
NM_001369.3(DNAH5):c.4443G>A (p.Pro1481=)
|
rs141196881
|
0.00004
|
NM_001369.3(DNAH5):c.4481G>A (p.Arg1494Gln)
|
rs372291214
|
0.00004
|
NM_001369.3(DNAH5):c.506C>T (p.Ser169Leu)
|
rs749078502
|
0.00004
|
NM_001369.3(DNAH5):c.5895G>A (p.Thr1965=)
|
rs537016848
|
0.00004
|
NM_001369.3(DNAH5):c.5932C>G (p.Pro1978Ala)
|
rs138222058
|
0.00004
|
NM_001369.3(DNAH5):c.6551T>C (p.Val2184Ala)
|
rs200805455
|
0.00004
|
NM_001369.3(DNAH5):c.7306T>C (p.Tyr2436His)
|
rs373885245
|
0.00004
|
NM_001369.3(DNAH5):c.8273A>C (p.Glu2758Ala)
|
rs527914224
|
0.00004
|
NM_001369.3(DNAH5):c.8748C>T (p.Leu2916=)
|
rs556119081
|
0.00004
|
NM_001369.3(DNAH5):c.8782A>G (p.Met2928Val)
|
rs946953944
|
0.00004
|
NM_001369.3(DNAH5):c.888G>A (p.Lys296=)
|
rs758680247
|
0.00004
|
NM_001369.3(DNAH5):c.9034A>T (p.Ile3012Phe)
|
rs368476008
|
0.00004
|
NM_001369.3(DNAH5):c.9356A>G (p.Lys3119Arg)
|
rs1251640049
|
0.00004
|
NM_003114.5(SPAG1):c.1510A>G (p.Ser504Gly)
|
rs775610872
|
0.00004
|
NM_003114.5(SPAG1):c.1713G>A (p.Leu571=)
|
rs778146484
|
0.00004
|
NM_003114.5(SPAG1):c.1863A>C (p.Lys621Asn)
|
rs779570829
|
0.00004
|
NM_003114.5(SPAG1):c.475G>A (p.Ala159Thr)
|
rs376138862
|
0.00004
|
NM_003611.3(OFD1):c.1102C>G (p.Leu368Val)
|
rs192285113
|
0.00004
|
NM_003611.3(OFD1):c.1172C>T (p.Ser391Leu)
|
rs1376766768
|
0.00004
|
NM_003611.3(OFD1):c.1490A>C (p.His497Pro)
|
rs772474080
|
0.00004
|
NM_003611.3(OFD1):c.2239G>A (p.Glu747Lys)
|
rs761915805
|
0.00004
|
NM_003611.3(OFD1):c.494C>T (p.Ser165Leu)
|
rs756793358
|
0.00004
|
NM_012144.4(DNAI1):c.1212T>G (p.Tyr404Ter)
|
rs926347298
|
0.00004
|
NM_012144.4(DNAI1):c.1455G>A (p.Thr485=)
|
rs200766993
|
0.00004
|
NM_012144.4(DNAI1):c.1469G>A (p.Gly490Glu)
|
rs377174043
|
0.00004
|
NM_012144.4(DNAI1):c.1693G>A (p.Val565Met)
|
rs139953639
|
0.00004
|
NM_012144.4(DNAI1):c.1913A>G (p.Asn638Ser)
|
rs201773877
|
0.00004
|
NM_012144.4(DNAI1):c.335C>G (p.Pro112Arg)
|
rs201313023
|
0.00004
|
NM_012144.4(DNAI1):c.692A>G (p.Tyr231Cys)
|
rs577672150
|
0.00004
|
NM_012144.4(DNAI1):c.862C>T (p.Arg288Trp)
|
rs202213517
|
0.00004
|
NM_012144.4(DNAI1):c.924T>C (p.Ala308=)
|
rs377594689
|
0.00004
|
NM_012472.6(DNAAF11):c.2T>A (p.Met1Lys)
|
rs377278570
|
0.00004
|
NM_012472.6(DNAAF11):c.42A>G (p.Glu14=)
|
rs199705053
|
0.00004
|
NM_016616.5(NME8):c.1269G>A (p.Met423Ile)
|
rs761626831
|
0.00004
|
NM_016616.5(NME8):c.144A>G (p.Leu48=)
|
rs199848335
|
0.00004
|
NM_016616.5(NME8):c.1539A>T (p.Leu513Phe)
|
rs766795421
|
0.00004
|
NM_016616.5(NME8):c.1648G>T (p.Asp550Tyr)
|
rs772853800
|
0.00004
|
NM_016616.5(NME8):c.1658G>A (p.Arg553Gln)
|
rs763297191
|
0.00004
|
NM_016616.5(NME8):c.1729G>A (p.Val577Ile)
|
rs770045061
|
0.00004
|
NM_016616.5(NME8):c.485C>T (p.Pro162Leu)
|
rs200863038
|
0.00004
|
NM_017802.4(DNAAF5):c.1184C>T (p.Thr395Met)
|
rs558096583
|
0.00004
|
NM_017802.4(DNAAF5):c.1329G>A (p.Thr443=)
|
rs150096726
|
0.00004
|
NM_017802.4(DNAAF5):c.1354G>A (p.Gly452Ser)
|
rs141689064
|
0.00004
|
NM_017802.4(DNAAF5):c.1519G>A (p.Val507Met)
|
rs978376503
|
0.00004
|
NM_017802.4(DNAAF5):c.1714G>A (p.Ala572Thr)
|
rs534027051
|
0.00004
|
NM_017802.4(DNAAF5):c.1816G>A (p.Val606Met)
|
rs200034358
|
0.00004
|
NM_017802.4(DNAAF5):c.2160C>T (p.Ile720=)
|
rs777084727
|
0.00004
|
NM_017802.4(DNAAF5):c.2375G>A (p.Arg792Gln)
|
rs772102523
|
0.00004
|
NM_017802.4(DNAAF5):c.495C>T (p.Asp165=)
|
rs1167742655
|
0.00004
|
NM_017802.4(DNAAF5):c.67G>C (p.Glu23Gln)
|
rs1443526471
|
0.00004
|
NM_017802.4(DNAAF5):c.69G>T (p.Glu23Asp)
|
rs540763017
|
0.00004
|
NM_017950.4(CCDC40):c.239A>T (p.Glu80Val)
|
rs190249222
|
0.00004
|
NM_017950.4(CCDC40):c.2680G>A (p.Ala894Thr)
|
rs375004715
|
0.00004
|
NM_017950.4(CCDC40):c.2824_2825insCTGT (p.Arg942fs)
|
rs587778819
|
0.00004
|
NM_017950.4(CCDC40):c.2876G>A (p.Arg959His)
|
rs369114517
|
0.00004
|
NM_017950.4(CCDC40):c.3100C>G (p.Gln1034Glu)
|
rs367614851
|
0.00004
|
NM_017950.4(CCDC40):c.3344G>A (p.Arg1115Gln)
|
rs771414681
|
0.00004
|
NM_017950.4(CCDC40):c.470C>T (p.Thr157Ile)
|
rs755159452
|
0.00004
|
NM_017950.4(CCDC40):c.637G>A (p.Glu213Lys)
|
rs372360189
|
0.00004
|
NM_017950.4(CCDC40):c.882C>T (p.Ala294=)
|
rs528463057
|
0.00004
|
NM_018076.5(ODAD2):c.1174A>G (p.Lys392Glu)
|
rs761673868
|
0.00004
|
NM_018076.5(ODAD2):c.1266T>C (p.Thr422=)
|
rs531062950
|
0.00004
|
NM_018076.5(ODAD2):c.2079C>T (p.Cys693=)
|
rs140338410
|
0.00004
|
NM_018076.5(ODAD2):c.2934C>T (p.Asn978=)
|
rs139934178
|
0.00004
|
NM_018076.5(ODAD2):c.383C>G (p.Ala128Gly)
|
rs1240219568
|
0.00004
|
NM_018076.5(ODAD2):c.423T>C (p.Tyr141=)
|
rs759039864
|
0.00004
|
NM_018139.3(DNAAF2):c.1314G>A (p.Gln438=)
|
rs767668051
|
0.00004
|
NM_018139.3(DNAAF2):c.1983T>A (p.Asp661Glu)
|
rs758897357
|
0.00004
|
NM_018139.3(DNAAF2):c.2331A>G (p.Glu777=)
|
rs755114164
|
0.00004
|
NM_018139.3(DNAAF2):c.549G>A (p.Arg183=)
|
rs1209806042
|
0.00004
|
NM_018139.3(DNAAF2):c.682T>C (p.Tyr228His)
|
rs751664496
|
0.00004
|
NM_023036.6(DNAI2):c.1165C>T (p.Arg389Cys)
|
rs375896715
|
0.00004
|
NM_023036.6(DNAI2):c.1327G>A (p.Asp443Asn)
|
rs368225621
|
0.00004
|
NM_023036.6(DNAI2):c.1494C>T (p.Ser498=)
|
rs761516740
|
0.00004
|
NM_023036.6(DNAI2):c.565C>T (p.Arg189Trp)
|
rs138885031
|
0.00004
|
NM_023036.6(DNAI2):c.663G>A (p.Thr221=)
|
rs368232107
|
0.00004
|
NM_023036.6(DNAI2):c.933G>A (p.Lys311=)
|
rs570168701
|
0.00004
|
NM_152732.5(RSPH9):c.760C>T (p.Arg254Cys)
|
rs200193470
|
0.00004
|
NM_178452.6(DNAAF1):c.1593G>A (p.Thr531=)
|
rs372197911
|
0.00004
|
NM_178452.6(DNAAF1):c.1948C>A (p.Leu650Ile)
|
rs759644657
|
0.00004
|
NM_178452.6(DNAAF1):c.1954G>A (p.Asp652Asn)
|
rs113845425
|
0.00004
|
NM_178452.6(DNAAF1):c.222C>T (p.Phe74=)
|
rs756189048
|
0.00004
|
NM_178452.6(DNAAF1):c.989G>A (p.Arg330Gln)
|
rs751716129
|
0.00004
|
NM_181426.2(CCDC39):c.1085A>G (p.Glu362Gly)
|
rs771647169
|
0.00004
|
NM_181426.2(CCDC39):c.137G>A (p.Arg46His)
|
rs376716008
|
0.00004
|
NM_181426.2(CCDC39):c.1665+3G>A
|
rs763769524
|
0.00004
|
NM_181426.2(CCDC39):c.1795C>T (p.Arg599Ter)
|
rs201780665
|
0.00004
|
NM_181426.2(CCDC39):c.2387T>C (p.Leu796Ser)
|
rs377454931
|
0.00004
|
NM_181426.2(CCDC39):c.2626C>T (p.Arg876Cys)
|
rs745852520
|
0.00004
|
NM_181426.2(CCDC39):c.2T>C (p.Met1Thr)
|
rs758493174
|
0.00004
|
NM_181426.2(CCDC39):c.474C>T (p.Leu158=)
|
rs777326219
|
0.00004
|
NM_213607.3(DNAAF19):c.138G>C (p.Glu46Asp)
|
rs187049607
|
0.00004
|
NM_213607.3(DNAAF19):c.353A>C (p.Glu118Ala)
|
rs758916687
|
0.00004
|
NM_001010892.3(RSPH4A):c.116C>A (p.Ser39Ter)
|
rs368110732
|
0.00003
|
NM_001010892.3(RSPH4A):c.1250T>A (p.Ile417Lys)
|
rs780773871
|
0.00003
|
NM_001010892.3(RSPH4A):c.1799A>C (p.Glu600Ala)
|
rs1350567163
|
0.00003
|
NM_001010892.3(RSPH4A):c.1811T>C (p.Ile604Thr)
|
rs1031372447
|
0.00003
|
NM_001010892.3(RSPH4A):c.341C>A (p.Thr114Lys)
|
rs562856574
|
0.00003
|
NM_001010892.3(RSPH4A):c.394T>A (p.Ser132Thr)
|
rs374708076
|
0.00003
|
NM_001010892.3(RSPH4A):c.782T>C (p.Met261Thr)
|
rs202102790
|
0.00003
|
NM_001034853.2(RPGR):c.1099C>G (p.Pro367Ala)
|
rs769641256
|
0.00003
|
NM_001034853.2(RPGR):c.1500A>C (p.Leu500Phe)
|
rs375014257
|
0.00003
|
NM_001034853.2(RPGR):c.1708A>G (p.Thr570Ala)
|
rs768169831
|
0.00003
|
NM_001034853.2(RPGR):c.1728C>T (p.Ile576=)
|
rs145682975
|
0.00003
|
NM_001034853.2(RPGR):c.294C>T (p.His98=)
|
rs62638636
|
0.00003
|
NM_001034853.2(RPGR):c.972C>T (p.His324=)
|
rs771739225
|
0.00003
|
NM_001256715.2(DNAAF3):c.-65G>C
|
rs1371744369
|
0.00003
|
NM_001256715.2(DNAAF3):c.1075G>A (p.Val359Ile)
|
rs774136369
|
0.00003
|
NM_001256715.2(DNAAF3):c.1132G>A (p.Gly378Ser)
|
rs200611170
|
0.00003
|
NM_001256715.2(DNAAF3):c.1227G>A (p.Val409=)
|
rs369064646
|
0.00003
|
NM_001256715.2(DNAAF3):c.1251C>T (p.Asp417=)
|
rs779990994
|
0.00003
|
NM_001256715.2(DNAAF3):c.1333G>C (p.Ala445Pro)
|
rs768592462
|
0.00003
|
NM_001256715.2(DNAAF3):c.357C>T (p.Asn119=)
|
rs1165524335
|
0.00003
|
NM_001256715.2(DNAAF3):c.363G>A (p.Leu121=)
|
rs551100219
|
0.00003
|
NM_001256715.2(DNAAF3):c.72C>A (p.Asp24Glu)
|
rs200866175
|
0.00003
|
NM_001256715.2(DNAAF3):c.929C>G (p.Thr310Ser)
|
rs781136508
|
0.00003
|
NM_001256715.2(DNAAF3):c.944C>T (p.Thr315Met)
|
rs758103289
|
0.00003
|
NM_001256715.2(DNAAF3):c.945G>A (p.Thr315=)
|
rs368225337
|
0.00003
|
NM_001277115.2(DNAH11):c.10166-1G>C
|
rs1166330097
|
0.00003
|
NM_001277115.2(DNAH11):c.10431A>C (p.Arg3477Ser)
|
rs578086869
|
0.00003
|
NM_001277115.2(DNAH11):c.10450G>A (p.Ala3484Thr)
|
rs372745850
|
0.00003
|
NM_001277115.2(DNAH11):c.10530T>C (p.Tyr3510=)
|
rs377399710
|
0.00003
|
NM_001277115.2(DNAH11):c.10641A>G (p.Ile3547Met)
|
rs368052967
|
0.00003
|
NM_001277115.2(DNAH11):c.1072C>G (p.Arg358Gly)
|
rs749125298
|
0.00003
|
NM_001277115.2(DNAH11):c.1084G>A (p.Ala362Thr)
|
rs771256529
|
0.00003
|
NM_001277115.2(DNAH11):c.10879G>A (p.Asp3627Asn)
|
rs374860291
|
0.00003
|
NM_001277115.2(DNAH11):c.10967G>A (p.Arg3656His)
|
rs765797284
|
0.00003
|
NM_001277115.2(DNAH11):c.11469A>C (p.Leu3823=)
|
rs776544602
|
0.00003
|
NM_001277115.2(DNAH11):c.11659A>G (p.Met3887Val)
|
rs72658811
|
0.00003
|
NM_001277115.2(DNAH11):c.11712G>C (p.Leu3904=)
|
rs761612271
|
0.00003
|
NM_001277115.2(DNAH11):c.11900G>T (p.Gly3967Val)
|
rs376276056
|
0.00003
|
NM_001277115.2(DNAH11):c.11983G>C (p.Ala3995Pro)
|
rs759909768
|
0.00003
|
NM_001277115.2(DNAH11):c.12008A>T (p.Lys4003Met)
|
rs751059559
|
0.00003
|
NM_001277115.2(DNAH11):c.12100C>G (p.Pro4034Ala)
|
rs759056367
|
0.00003
|
NM_001277115.2(DNAH11):c.12124A>G (p.Ile4042Val)
|
rs1472680257
|
0.00003
|
NM_001277115.2(DNAH11):c.12146C>T (p.Pro4049Leu)
|
rs1428231658
|
0.00003
|
NM_001277115.2(DNAH11):c.12317A>T (p.Tyr4106Phe)
|
rs763870754
|
0.00003
|
NM_001277115.2(DNAH11):c.12363C>G (p.Tyr4121Ter)
|
rs121908855
|
0.00003
|
NM_001277115.2(DNAH11):c.12647A>T (p.Glu4216Val)
|
rs755880806
|
0.00003
|
NM_001277115.2(DNAH11):c.12657A>G (p.Thr4219=)
|
rs574488123
|
0.00003
|
NM_001277115.2(DNAH11):c.1289T>C (p.Phe430Ser)
|
rs759050942
|
0.00003
|
NM_001277115.2(DNAH11):c.13428C>T (p.Tyr4476=)
|
rs530934832
|
0.00003
|
NM_001277115.2(DNAH11):c.1671A>C (p.Glu557Asp)
|
rs764968620
|
0.00003
|
NM_001277115.2(DNAH11):c.1794G>T (p.Met598Ile)
|
rs573727689
|
0.00003
|
NM_001277115.2(DNAH11):c.179G>C (p.Arg60Pro)
|
rs757349371
|
0.00003
|
NM_001277115.2(DNAH11):c.219G>A (p.Thr73=)
|
rs1051931486
|
0.00003
|
NM_001277115.2(DNAH11):c.2245A>G (p.Ile749Val)
|
rs771357828
|
0.00003
|
NM_001277115.2(DNAH11):c.2329C>T (p.Leu777Phe)
|
rs1163253626
|
0.00003
|
NM_001277115.2(DNAH11):c.2504A>G (p.Lys835Arg)
|
rs745305844
|
0.00003
|
NM_001277115.2(DNAH11):c.3790A>G (p.Arg1264Gly)
|
rs749057056
|
0.00003
|
NM_001277115.2(DNAH11):c.4142C>T (p.Thr1381Met)
|
rs551195183
|
0.00003
|
NM_001277115.2(DNAH11):c.4257C>T (p.Val1419=)
|
rs1427083702
|
0.00003
|
NM_001277115.2(DNAH11):c.4352C>T (p.Ala1451Val)
|
rs775598568
|
0.00003
|
NM_001277115.2(DNAH11):c.4884C>G (p.Phe1628Leu)
|
rs762090852
|
0.00003
|
NM_001277115.2(DNAH11):c.4891G>A (p.Val1631Ile)
|
rs766901693
|
0.00003
|
NM_001277115.2(DNAH11):c.4926A>C (p.Lys1642Asn)
|
rs770520414
|
0.00003
|
NM_001277115.2(DNAH11):c.4972G>A (p.Asp1658Asn)
|
rs749120592
|
0.00003
|
NM_001277115.2(DNAH11):c.5059G>A (p.Val1687Ile)
|
rs1236771486
|
0.00003
|
NM_001277115.2(DNAH11):c.5155A>G (p.Thr1719Ala)
|
rs369965539
|
0.00003
|
NM_001277115.2(DNAH11):c.5789A>G (p.Asn1930Ser)
|
rs368502112
|
0.00003
|
NM_001277115.2(DNAH11):c.5883A>G (p.Gln1961=)
|
rs774896858
|
0.00003
|
NM_001277115.2(DNAH11):c.5936T>C (p.Leu1979Pro)
|
rs772070316
|
0.00003
|
NM_001277115.2(DNAH11):c.6130C>T (p.Arg2044Ter)
|
rs767595964
|
0.00003
|
NM_001277115.2(DNAH11):c.6152C>T (p.Thr2051Met)
|
rs375341444
|
0.00003
|
NM_001277115.2(DNAH11):c.6328A>C (p.Ile2110Leu)
|
rs370269376
|
0.00003
|
NM_001277115.2(DNAH11):c.637C>T (p.Pro213Ser)
|
rs753456838
|
0.00003
|
NM_001277115.2(DNAH11):c.6500G>A (p.Arg2167Gln)
|
rs760400353
|
0.00003
|
NM_001277115.2(DNAH11):c.6573T>C (p.Tyr2191=)
|
rs368278745
|
0.00003
|
NM_001277115.2(DNAH11):c.692+4C>T
|
rs762352605
|
0.00003
|
NM_001277115.2(DNAH11):c.6984G>T (p.Pro2328=)
|
rs761918179
|
0.00003
|
NM_001277115.2(DNAH11):c.7126C>T (p.Leu2376=)
|
rs549049467
|
0.00003
|
NM_001277115.2(DNAH11):c.7186G>A (p.Asp2396Asn)
|
rs1267150542
|
0.00003
|
NM_001277115.2(DNAH11):c.7258C>G (p.Gln2420Glu)
|
rs1207409225
|
0.00003
|
NM_001277115.2(DNAH11):c.7331C>T (p.Pro2444Leu)
|
rs552235699
|
0.00003
|
NM_001277115.2(DNAH11):c.7450G>A (p.Val2484Ile)
|
rs572118148
|
0.00003
|
NM_001277115.2(DNAH11):c.7594A>G (p.Ile2532Val)
|
rs752203815
|
0.00003
|
NM_001277115.2(DNAH11):c.7728C>T (p.Asp2576=)
|
rs368846569
|
0.00003
|
NM_001277115.2(DNAH11):c.772A>G (p.Ile258Val)
|
rs747435111
|
0.00003
|
NM_001277115.2(DNAH11):c.8019A>G (p.Pro2673=)
|
rs762237613
|
0.00003
|
NM_001277115.2(DNAH11):c.8247A>G (p.Lys2749=)
|
rs367806628
|
0.00003
|
NM_001277115.2(DNAH11):c.8317G>T (p.Gly2773Cys)
|
rs569296562
|
0.00003
|
NM_001277115.2(DNAH11):c.8335C>A (p.Leu2779Met)
|
rs760409547
|
0.00003
|
NM_001277115.2(DNAH11):c.8386C>G (p.Pro2796Ala)
|
rs139912794
|
0.00003
|
NM_001277115.2(DNAH11):c.8516G>A (p.Arg2839His)
|
rs1253630975
|
0.00003
|
NM_001277115.2(DNAH11):c.9750T>C (p.Asp3250=)
|
rs771138501
|
0.00003
|
NM_001277115.2(DNAH11):c.9789T>G (p.Ile3263Met)
|
rs953225271
|
0.00003
|
NM_001277115.2(DNAH11):c.9818A>C (p.Glu3273Ala)
|
rs753829743
|
0.00003
|
NM_001277115.2(DNAH11):c.9826T>C (p.Leu3276=)
|
rs781418836
|
0.00003
|
NM_001277115.2(DNAH11):c.983-1G>T
|
rs777285019
|
0.00003
|
NM_001277115.2(DNAH11):c.9884G>A (p.Gly3295Asp)
|
rs554507939
|
0.00003
|
NM_001364171.2(ODAD1):c.1613G>A (p.Arg538His)
|
rs749435831
|
0.00003
|
NM_001364171.2(ODAD1):c.1635C>T (p.Ala545=)
|
rs758221101
|
0.00003
|
NM_001364171.2(ODAD1):c.254G>A (p.Arg85Gln)
|
rs1186646725
|
0.00003
|
NM_001364171.2(ODAD1):c.284G>A (p.Arg95His)
|
rs1002779676
|
0.00003
|
NM_001364171.2(ODAD1):c.378G>A (p.Thr126=)
|
rs775223049
|
0.00003
|
NM_001364171.2(ODAD1):c.425T>C (p.Leu142Pro)
|
rs146960725
|
0.00003
|
NM_001364171.2(ODAD1):c.597+1G>A
|
rs606231238
|
0.00003
|
NM_001364171.2(ODAD1):c.812G>A (p.Arg271Gln)
|
rs776898770
|
0.00003
|
NM_001369.3(DNAH5):c.10230G>A (p.Thr3410=)
|
rs765000004
|
0.00003
|
NM_001369.3(DNAH5):c.10451A>T (p.His3484Leu)
|
rs150532311
|
0.00003
|
NM_001369.3(DNAH5):c.10552G>C (p.Val3518Leu)
|
rs558861943
|
0.00003
|
NM_001369.3(DNAH5):c.10615C>T (p.Arg3539Cys)
|
rs1304504006
|
0.00003
|
NM_001369.3(DNAH5):c.10784C>T (p.Thr3595Met)
|
rs886043929
|
0.00003
|
NM_001369.3(DNAH5):c.11129G>A (p.Arg3710His)
|
rs954286214
|
0.00003
|
NM_001369.3(DNAH5):c.11357G>A (p.Ser3786Asn)
|
rs777928542
|
0.00003
|
NM_001369.3(DNAH5):c.11533C>T (p.Arg3845Cys)
|
rs565819640
|
0.00003
|
NM_001369.3(DNAH5):c.11583C>A (p.Ser3861Arg)
|
rs576096758
|
0.00003
|
NM_001369.3(DNAH5):c.11586G>A (p.Pro3862=)
|
rs755874851
|
0.00003
|
NM_001369.3(DNAH5):c.12209C>T (p.Thr4070Ile)
|
rs746662023
|
0.00003
|
NM_001369.3(DNAH5):c.12279C>T (p.Asn4093=)
|
rs572468560
|
0.00003
|
NM_001369.3(DNAH5):c.12414T>C (p.Phe4138=)
|
rs754273700
|
0.00003
|
NM_001369.3(DNAH5):c.12727C>T (p.Arg4243Cys)
|
rs150357258
|
0.00003
|
NM_001369.3(DNAH5):c.13485G>A (p.Met4495Ile)
|
rs1424487626
|
0.00003
|
NM_001369.3(DNAH5):c.13718A>G (p.Asn4573Ser)
|
rs1375781764
|
0.00003
|
NM_001369.3(DNAH5):c.13745A>G (p.Tyr4582Cys)
|
rs749862482
|
0.00003
|
NM_001369.3(DNAH5):c.1611C>T (p.Tyr537=)
|
rs367877988
|
0.00003
|
NM_001369.3(DNAH5):c.1683G>C (p.Lys561Asn)
|
rs762874180
|
0.00003
|
NM_001369.3(DNAH5):c.1730G>C (p.Arg577Thr)
|
rs397515541
|
0.00003
|
NM_001369.3(DNAH5):c.1810T>C (p.Ser604Pro)
|
rs769275003
|
0.00003
|
NM_001369.3(DNAH5):c.2963C>T (p.Ser988Phe)
|
rs1040668411
|
0.00003
|
NM_001369.3(DNAH5):c.3098C>A (p.Thr1033Asn)
|
rs762101328
|
0.00003
|
NM_001369.3(DNAH5):c.3408A>G (p.Thr1136=)
|
rs762124795
|
0.00003
|
NM_001369.3(DNAH5):c.349G>A (p.Glu117Lys)
|
rs116128702
|
0.00003
|
NM_001369.3(DNAH5):c.358G>A (p.Asp120Asn)
|
rs779957324
|
0.00003
|
NM_001369.3(DNAH5):c.3612C>T (p.Phe1204=)
|
rs752941536
|
0.00003
|
NM_001369.3(DNAH5):c.4116G>C (p.Gln1372His)
|
rs139463637
|
0.00003
|
NM_001369.3(DNAH5):c.4179C>T (p.Gly1393=)
|
rs904428157
|
0.00003
|
NM_001369.3(DNAH5):c.4574T>G (p.Leu1525Arg)
|
rs749792446
|
0.00003
|
NM_001369.3(DNAH5):c.465G>A (p.Ala155=)
|
rs763709302
|
0.00003
|
NM_001369.3(DNAH5):c.46C>T (p.Arg16Ter)
|
rs772230378
|
0.00003
|
NM_001369.3(DNAH5):c.476G>T (p.Gly159Val)
|
rs185219431
|
0.00003
|
NM_001369.3(DNAH5):c.4960C>T (p.Arg1654Trp)
|
rs139364454
|
0.00003
|
NM_001369.3(DNAH5):c.496C>T (p.Arg166Cys)
|
rs372832680
|
0.00003
|
NM_001369.3(DNAH5):c.4972A>G (p.Ile1658Val)
|
rs535557021
|
0.00003
|
NM_001369.3(DNAH5):c.5028C>A (p.Val1676=)
|
rs1009389873
|
0.00003
|
NM_001369.3(DNAH5):c.5282G>A (p.Arg1761Gln)
|
rs774020682
|
0.00003
|
NM_001369.3(DNAH5):c.532G>A (p.Ala178Thr)
|
rs781356156
|
0.00003
|
NM_001369.3(DNAH5):c.6217A>G (p.Met2073Val)
|
rs752077073
|
0.00003
|
NM_001369.3(DNAH5):c.7288G>A (p.Glu2430Lys)
|
rs575491117
|
0.00003
|
NM_001369.3(DNAH5):c.8006A>T (p.Asp2669Val)
|
rs770090882
|
0.00003
|
NM_001369.3(DNAH5):c.8261G>A (p.Gly2754Asp)
|
rs546101625
|
0.00003
|
NM_001369.3(DNAH5):c.833C>T (p.Ala278Val)
|
rs776859976
|
0.00003
|
NM_001369.3(DNAH5):c.8600T>A (p.Ile2867Asn)
|
rs572852817
|
0.00003
|
NM_001369.3(DNAH5):c.9128A>T (p.Asp3043Val)
|
rs759475605
|
0.00003
|
NM_001369.3(DNAH5):c.9400G>A (p.Asp3134Asn)
|
rs1038976235
|
0.00003
|
NM_001369.3(DNAH5):c.9517G>A (p.Val3173Met)
|
rs552782157
|
0.00003
|
NM_001369.3(DNAH5):c.9706G>A (p.Asp3236Asn)
|
rs374206128
|
0.00003
|
NM_001369.3(DNAH5):c.9815G>A (p.Ser3272Asn)
|
rs771279662
|
0.00003
|
NM_001369.3(DNAH5):c.983G>A (p.Arg328Gln)
|
rs376626613
|
0.00003
|
NM_001369.3(DNAH5):c.986A>G (p.Glu329Gly)
|
rs483353127
|
0.00003
|
NM_001369.3(DNAH5):c.9975C>T (p.Cys3325=)
|
rs771715883
|
0.00003
|
NM_001369.3(DNAH5):c.9976G>T (p.Val3326Leu)
|
rs149452082
|
0.00003
|
NM_003114.5(SPAG1):c.133G>A (p.Val45Met)
|
rs764448315
|
0.00003
|
NM_003114.5(SPAG1):c.1579C>T (p.Arg527Trp)
|
rs777137396
|
0.00003
|
NM_003114.5(SPAG1):c.1838G>A (p.Arg613His)
|
rs147520866
|
0.00003
|
NM_003114.5(SPAG1):c.2750T>C (p.Ile917Thr)
|
rs527455729
|
0.00003
|
NM_003114.5(SPAG1):c.395G>A (p.Arg132His)
|
rs545486340
|
0.00003
|
NM_003114.5(SPAG1):c.742C>T (p.Arg248Ter)
|
rs770777381
|
0.00003
|
NM_003611.3(OFD1):c.2030A>T (p.Glu677Val)
|
rs370183911
|
0.00003
|
NM_003611.3(OFD1):c.2100G>A (p.Glu700=)
|
rs780655531
|
0.00003
|
NM_003611.3(OFD1):c.2223A>G (p.Lys741=)
|
rs1355239331
|
0.00003
|
NM_003611.3(OFD1):c.2354C>T (p.Pro785Leu)
|
rs1292383878
|
0.00003
|
NM_003611.3(OFD1):c.2708A>T (p.Glu903Val)
|
rs761100130
|
0.00003
|
NM_003611.3(OFD1):c.2940G>C (p.Lys980Asn)
|
rs762218314
|
0.00003
|
NM_003611.3(OFD1):c.397A>G (p.Lys133Glu)
|
rs759975626
|
0.00003
|
NM_012144.4(DNAI1):c.1085G>A (p.Arg362Gln)
|
rs372361587
|
0.00003
|
NM_012144.4(DNAI1):c.1109T>C (p.Leu370Pro)
|
rs201677978
|
0.00003
|
NM_012144.4(DNAI1):c.119A>G (p.Asp40Gly)
|
rs553371109
|
0.00003
|
NM_012144.4(DNAI1):c.1543G>A (p.Gly515Ser)
|
rs79833450
|
0.00003
|
NM_012144.4(DNAI1):c.1703G>C (p.Trp568Ser)
|
rs772686744
|
0.00003
|
NM_012144.4(DNAI1):c.2041G>A (p.Glu681Lys)
|
rs758956642
|
0.00003
|
NM_012144.4(DNAI1):c.228C>T (p.His76=)
|
rs760014707
|
0.00003
|
NM_012144.4(DNAI1):c.25C>G (p.Pro9Ala)
|
rs750045804
|
0.00003
|
NM_012144.4(DNAI1):c.373G>A (p.Asp125Asn)
|
rs752354598
|
0.00003
|
NM_012144.4(DNAI1):c.476G>A (p.Ser159Asn)
|
rs149230619
|
0.00003
|
NM_012144.4(DNAI1):c.994C>A (p.Arg332Ser)
|
rs182015909
|
0.00003
|
NM_012472.6(DNAAF11):c.1024C>T (p.Arg342Ter)
|
rs150975285
|
0.00003
|
NM_012472.6(DNAAF11):c.118G>A (p.Asp40Asn)
|
rs760744496
|
0.00003
|
NM_012472.6(DNAAF11):c.1281T>C (p.Asp427=)
|
rs915071476
|
0.00003
|
NM_012472.6(DNAAF11):c.147C>G (p.Leu49=)
|
rs768257025
|
0.00003
|
NM_016616.5(NME8):c.1216G>T (p.Val406Phe)
|
rs1032316700
|
0.00003
|
NM_016616.5(NME8):c.1543G>A (p.Val515Met)
|
rs754044934
|
0.00003
|
NM_016616.5(NME8):c.253G>A (p.Val85Ile)
|
rs202034687
|
0.00003
|
NM_016616.5(NME8):c.742C>A (p.Pro248Thr)
|
rs201277639
|
0.00003
|
NM_017802.4(DNAAF5):c.1027C>T (p.Arg343Cys)
|
rs773921234
|
0.00003
|
NM_017802.4(DNAAF5):c.1131G>T (p.Val377=)
|
rs151119269
|
0.00003
|
NM_017802.4(DNAAF5):c.1207C>T (p.Arg403Trp)
|
rs372413434
|
0.00003
|
NM_017802.4(DNAAF5):c.1258T>C (p.Cys420Arg)
|
rs147811057
|
0.00003
|
NM_017802.4(DNAAF5):c.1334A>G (p.Lys445Arg)
|
rs138582774
|
0.00003
|
NM_017802.4(DNAAF5):c.1409C>T (p.Pro470Leu)
|
rs756296083
|
0.00003
|
NM_017802.4(DNAAF5):c.1564G>A (p.Val522Met)
|
rs573265374
|
0.00003
|
NM_017802.4(DNAAF5):c.1792C>T (p.Leu598=)
|
rs751078064
|
0.00003
|
NM_017802.4(DNAAF5):c.1856C>T (p.Pro619Leu)
|
rs755871359
|
0.00003
|
NM_017802.4(DNAAF5):c.190G>T (p.Ala64Ser)
|
rs1353152566
|
0.00003
|
NM_017802.4(DNAAF5):c.2024C>T (p.Thr675Met)
|
rs757110526
|
0.00003
|
NM_017802.4(DNAAF5):c.2075C>T (p.Ala692Val)
|
rs759671132
|
0.00003
|
NM_017802.4(DNAAF5):c.2207C>T (p.Thr736Met)
|
rs149417565
|
0.00003
|
NM_017802.4(DNAAF5):c.2252G>A (p.Arg751His)
|
rs145339697
|
0.00003
|
NM_017802.4(DNAAF5):c.2451C>A (p.Ser817Arg)
|
rs142621969
|
0.00003
|
NM_017802.4(DNAAF5):c.2562A>T (p.Thr854=)
|
rs146751534
|
0.00003
|
NM_017802.4(DNAAF5):c.432G>T (p.Ala144=)
|
rs1438667964
|
0.00003
|
NM_017802.4(DNAAF5):c.582G>T (p.Ala194=)
|
rs983691728
|
0.00003
|
NM_017950.4(CCDC40):c.1040A>G (p.Lys347Arg)
|
rs778572911
|
0.00003
|
NM_017950.4(CCDC40):c.1222G>A (p.Asp408Asn)
|
rs377484770
|
0.00003
|
NM_017950.4(CCDC40):c.1670G>A (p.Arg557Gln)
|
rs200236937
|
0.00003
|
NM_017950.4(CCDC40):c.1997A>G (p.His666Arg)
|
rs370564898
|
0.00003
|
NM_017950.4(CCDC40):c.19G>A (p.Ala7Thr)
|
rs765319797
|
0.00003
|
NM_017950.4(CCDC40):c.2013C>T (p.Asn671=)
|
rs375603538
|
0.00003
|
NM_017950.4(CCDC40):c.2693A>G (p.Asn898Ser)
|
rs373525552
|
0.00003
|
NM_017950.4(CCDC40):c.2939A>T (p.Lys980Met)
|
rs201104817
|
0.00003
|
NM_017950.4(CCDC40):c.3016C>T (p.Arg1006Cys)
|
rs553354727
|
0.00003
|
NM_017950.4(CCDC40):c.3132C>T (p.Phe1044=)
|
rs369736890
|
0.00003
|
NM_017950.4(CCDC40):c.3262C>T (p.Arg1088Cys)
|
rs766993149
|
0.00003
|
NM_017950.4(CCDC40):c.3275C>A (p.Ser1092Tyr)
|
rs765676395
|
0.00003
|
NM_017950.4(CCDC40):c.3353A>G (p.Tyr1118Cys)
|
rs921733232
|
0.00003
|
NM_017950.4(CCDC40):c.3409G>A (p.Glu1137Lys)
|
rs774630271
|
0.00003
|
NM_017950.4(CCDC40):c.387C>T (p.Tyr129=)
|
rs557375778
|
0.00003
|
NM_018076.5(ODAD2):c.1018C>T (p.Arg340Cys)
|
rs753179587
|
0.00003
|
NM_018076.5(ODAD2):c.1092C>A (p.Thr364=)
|
rs760207733
|
0.00003
|
NM_018076.5(ODAD2):c.1318C>T (p.Arg440Cys)
|
rs376424270
|
0.00003
|
NM_018076.5(ODAD2):c.1460A>T (p.Gln487Leu)
|
rs773452157
|
0.00003
|
NM_018076.5(ODAD2):c.1726G>A (p.Gly576Arg)
|
rs776147159
|
0.00003
|
NM_018076.5(ODAD2):c.1791G>A (p.Ser597=)
|
rs779015420
|
0.00003
|
NM_018076.5(ODAD2):c.1825C>T (p.Arg609Cys)
|
rs937112850
|
0.00003
|
NM_018076.5(ODAD2):c.2147T>G (p.Leu716Arg)
|
rs774069311
|
0.00003
|
NM_018076.5(ODAD2):c.3011G>A (p.Gly1004Asp)
|
rs768774922
|
0.00003
|
NM_018076.5(ODAD2):c.3099G>T (p.Arg1033Ser)
|
rs556416045
|
0.00003
|
NM_018076.5(ODAD2):c.657C>T (p.Val219=)
|
rs765025001
|
0.00003
|
NM_018139.3(DNAAF2):c.1102G>A (p.Glu368Lys)
|
rs1165233490
|
0.00003
|
NM_018139.3(DNAAF2):c.1120G>C (p.Gly374Arg)
|
rs886050527
|
0.00003
|
NM_018139.3(DNAAF2):c.1227C>G (p.Gly409=)
|
rs1045466672
|
0.00003
|
NM_018139.3(DNAAF2):c.1234G>T (p.Val412Phe)
|
rs779297300
|
0.00003
|
NM_018139.3(DNAAF2):c.1349G>T (p.Ser450Ile)
|
rs185938951
|
0.00003
|
NM_018139.3(DNAAF2):c.343C>G (p.Pro115Ala)
|
rs931555570
|
0.00003
|
NM_018139.3(DNAAF2):c.377C>T (p.Ala126Val)
|
rs771603303
|
0.00003
|
NM_018139.3(DNAAF2):c.959T>G (p.Leu320Arg)
|
rs767024971
|
0.00003
|
NM_023036.6(DNAI2):c.1260G>A (p.Pro420=)
|
rs200043910
|
0.00003
|
NM_023036.6(DNAI2):c.1348-3T>C
|
rs536410188
|
0.00003
|
NM_023036.6(DNAI2):c.1401C>T (p.Ile467=)
|
rs371989598
|
0.00003
|
NM_023036.6(DNAI2):c.1552C>T (p.Arg518Trp)
|
rs377582813
|
0.00003
|
NM_023036.6(DNAI2):c.1659C>T (p.Phe553=)
|
rs372259857
|
0.00003
|
NM_023036.6(DNAI2):c.290G>A (p.Arg97Gln)
|
rs775926673
|
0.00003
|
NM_023036.6(DNAI2):c.317A>T (p.Tyr106Phe)
|
rs761389658
|
0.00003
|
NM_023036.6(DNAI2):c.39G>A (p.Glu13=)
|
rs533814143
|
0.00003
|
NM_023036.6(DNAI2):c.404A>G (p.Asn135Ser)
|
rs748855872
|
0.00003
|
NM_023036.6(DNAI2):c.589G>A (p.Asp197Asn)
|
rs761171314
|
0.00003
|
NM_023036.6(DNAI2):c.95T>A (p.Met32Lys)
|
rs144328249
|
0.00003
|
NM_152732.5(RSPH9):c.126T>G (p.Asp42Glu)
|
rs760687663
|
0.00003
|
NM_152732.5(RSPH9):c.282G>A (p.Ala94=)
|
rs151197990
|
0.00003
|
NM_152732.5(RSPH9):c.355G>A (p.Val119Met)
|
rs147687479
|
0.00003
|
NM_152732.5(RSPH9):c.373G>C (p.Val125Leu)
|
rs199874020
|
0.00003
|
NM_152732.5(RSPH9):c.718C>T (p.Arg240Cys)
|
rs756423549
|
0.00003
|
NM_152732.5(RSPH9):c.720C>T (p.Arg240=)
|
rs749404508
|
0.00003
|
NM_152732.5(RSPH9):c.735G>A (p.Pro245=)
|
rs769469438
|
0.00003
|
NM_152732.5(RSPH9):c.743C>A (p.Thr248Asn)
|
rs371417111
|
0.00003
|
NM_152732.5(RSPH9):c.787G>A (p.Val263Met)
|
rs772227123
|
0.00003
|
NM_178452.6(DNAAF1):c.1167C>G (p.Leu389=)
|
rs761828683
|
0.00003
|
NM_178452.6(DNAAF1):c.1182A>G (p.Pro394=)
|
rs139366230
|
0.00003
|
NM_178452.6(DNAAF1):c.1191G>C (p.Glu397Asp)
|
rs757727188
|
0.00003
|
NM_178452.6(DNAAF1):c.13C>G (p.Pro5Ala)
|
rs1024875120
|
0.00003
|
NM_178452.6(DNAAF1):c.149G>A (p.Cys50Tyr)
|
rs747363759
|
0.00003
|
NM_178452.6(DNAAF1):c.1587G>A (p.Thr529=)
|
rs769031288
|
0.00003
|
NM_178452.6(DNAAF1):c.1618G>C (p.Glu540Gln)
|
rs752285725
|
0.00003
|
NM_178452.6(DNAAF1):c.1740T>C (p.Ser580=)
|
rs191935750
|
0.00003
|
NM_178452.6(DNAAF1):c.1994G>A (p.Cys665Tyr)
|
rs769986363
|
0.00003
|
NM_178452.6(DNAAF1):c.254G>T (p.Gly85Val)
|
rs527423763
|
0.00003
|
NM_178452.6(DNAAF1):c.315C>G (p.Thr105=)
|
rs144962513
|
0.00003
|
NM_178452.6(DNAAF1):c.596C>T (p.Thr199Ile)
|
rs773251720
|
0.00003
|
NM_181426.2(CCDC39):c.1704T>G (p.Val568=)
|
rs753323311
|
0.00003
|
NM_181426.2(CCDC39):c.2153C>A (p.Pro718Gln)
|
rs767117097
|
0.00003
|
NM_181426.2(CCDC39):c.2366C>T (p.Thr789Met)
|
rs747000468
|
0.00003
|
NM_181426.2(CCDC39):c.2406+5C>T
|
rs777030873
|
0.00003
|
NM_181426.2(CCDC39):c.2735C>T (p.Pro912Leu)
|
rs760435440
|
0.00003
|
NM_181426.2(CCDC39):c.764C>T (p.Thr255Met)
|
rs753991733
|
0.00003
|
NM_181426.2(CCDC39):c.795G>T (p.Lys265Asn)
|
rs761112741
|
0.00003
|
NM_181426.2(CCDC39):c.821G>A (p.Gly274Glu)
|
rs752180569
|
0.00003
|
NM_213607.3(DNAAF19):c.479G>A (p.Arg160Gln)
|
rs776954276
|
0.00003
|
NM_213607.3(DNAAF19):c.486G>A (p.Ala162=)
|
rs562183648
|
0.00003
|
NM_213607.3(DNAAF19):c.61A>G (p.Thr21Ala)
|
rs531875424
|
0.00003
|
NM_000328.3(RPGR):c.1935A>G (p.Leu645=)
|
rs781266050
|
0.00002
|
NM_001010892.3(RSPH4A):c.1158T>C (p.Asp386=)
|
rs747771793
|
0.00002
|
NM_001010892.3(RSPH4A):c.1378A>C (p.Lys460Gln)
|
rs1366911279
|
0.00002
|
NM_001010892.3(RSPH4A):c.2135A>G (p.Glu712Gly)
|
rs765412618
|
0.00002
|
NM_001010892.3(RSPH4A):c.806A>C (p.Asp269Ala)
|
rs759084740
|
0.00002
|
NM_001034853.2(RPGR):c.109C>T (p.Pro37Ser)
|
rs1027214389
|
0.00002
|
NM_001034853.2(RPGR):c.504C>T (p.Ser168=)
|
rs1462174690
|
0.00002
|
NM_001034853.2(RPGR):c.726G>A (p.Pro242=)
|
rs768381214
|
0.00002
|
NM_001256715.2(DNAAF3):c.125A>T (p.His42Leu)
|
rs1252732174
|
0.00002
|
NM_001256715.2(DNAAF3):c.1306G>A (p.Ala436Thr)
|
rs886054639
|
0.00002
|
NM_001256715.2(DNAAF3):c.1387G>A (p.Gly463Ser)
|
rs368138318
|
0.00002
|
NM_001256715.2(DNAAF3):c.1487C>A (p.Pro496His)
|
rs757426979
|
0.00002
|
NM_001256715.2(DNAAF3):c.1578G>A (p.Gly526=)
|
rs899636986
|
0.00002
|
NM_001256715.2(DNAAF3):c.553C>T (p.Pro185Ser)
|
rs1018709493
|
0.00002
|
NM_001256715.2(DNAAF3):c.578G>A (p.Arg193His)
|
rs983176695
|
0.00002
|
NM_001256715.2(DNAAF3):c.847G>A (p.Val283Met)
|
rs1039202842
|
0.00002
|
NM_001256715.2(DNAAF3):c.938A>C (p.Asn313Thr)
|
rs1368593902
|
0.00002
|
NM_001277115.2(DNAH11):c.10037G>A (p.Arg3346Gln)
|
rs761713335
|
0.00002
|
NM_001277115.2(DNAH11):c.10303T>A (p.Cys3435Ser)
|
rs1325718181
|
0.00002
|
NM_001277115.2(DNAH11):c.10333-5T>G
|
rs1416530706
|
0.00002
|
NM_001277115.2(DNAH11):c.1053G>A (p.Glu351=)
|
rs201475447
|
0.00002
|
NM_001277115.2(DNAH11):c.1055C>T (p.Thr352Met)
|
rs200824684
|
0.00002
|
NM_001277115.2(DNAH11):c.11105G>A (p.Arg3702Gln)
|
rs774855826
|
0.00002
|
NM_001277115.2(DNAH11):c.11717C>T (p.Ala3906Val)
|
rs200664169
|
0.00002
|
NM_001277115.2(DNAH11):c.11929G>T (p.Glu3977Ter)
|
rs72658817
|
0.00002
|
NM_001277115.2(DNAH11):c.1220A>C (p.Asp407Ala)
|
rs780042783
|
0.00002
|
NM_001277115.2(DNAH11):c.12848T>C (p.Leu4283Pro)
|
rs373110271
|
0.00002
|
NM_001277115.2(DNAH11):c.12984T>C (p.Ser4328=)
|
rs768305852
|
0.00002
|
NM_001277115.2(DNAH11):c.1543T>A (p.Cys515Ser)
|
rs368512197
|
0.00002
|
NM_001277115.2(DNAH11):c.1667G>A (p.Cys556Tyr)
|
rs370752481
|
0.00002
|
NM_001277115.2(DNAH11):c.1901A>T (p.Asn634Ile)
|
rs575221219
|
0.00002
|
NM_001277115.2(DNAH11):c.1A>G (p.Met1Val)
|
rs1162526607
|
0.00002
|
NM_001277115.2(DNAH11):c.2222A>G (p.Asp741Gly)
|
rs748431050
|
0.00002
|
NM_001277115.2(DNAH11):c.2278A>G (p.Ile760Val)
|
rs768205792
|
0.00002
|
NM_001277115.2(DNAH11):c.2491C>G (p.Gln831Glu)
|
rs753129819
|
0.00002
|
NM_001277115.2(DNAH11):c.2887A>G (p.Arg963Gly)
|
rs185803317
|
0.00002
|
NM_001277115.2(DNAH11):c.2965C>T (p.Arg989Ter)
|
rs753010997
|
0.00002
|
NM_001277115.2(DNAH11):c.2993A>G (p.Asn998Ser)
|
rs368692202
|
0.00002
|
NM_001277115.2(DNAH11):c.3474G>C (p.Gln1158His)
|
rs574898096
|
0.00002
|
NM_001277115.2(DNAH11):c.355C>G (p.Pro119Ala)
|
rs747193364
|
0.00002
|
NM_001277115.2(DNAH11):c.3566T>C (p.Leu1189Pro)
|
rs372526334
|
0.00002
|
NM_001277115.2(DNAH11):c.3694G>A (p.Val1232Ile)
|
rs1273839207
|
0.00002
|
NM_001277115.2(DNAH11):c.4037C>T (p.Thr1346Ile)
|
rs367884384
|
0.00002
|
NM_001277115.2(DNAH11):c.4353G>A (p.Ala1451=)
|
rs373969291
|
0.00002
|
NM_001277115.2(DNAH11):c.444T>C (p.Phe148=)
|
rs930817553
|
0.00002
|
NM_001277115.2(DNAH11):c.4581C>G (p.Asn1527Lys)
|
rs766093573
|
0.00002
|
NM_001277115.2(DNAH11):c.4609A>G (p.Met1537Val)
|
rs371095430
|
0.00002
|
NM_001277115.2(DNAH11):c.4681G>A (p.Val1561Met)
|
rs752129504
|
0.00002
|
NM_001277115.2(DNAH11):c.4708G>A (p.Val1570Met)
|
rs754155714
|
0.00002
|
NM_001277115.2(DNAH11):c.47C>T (p.Ala16Val)
|
rs1000525671
|
0.00002
|
NM_001277115.2(DNAH11):c.4842C>T (p.Leu1614=)
|
rs755293443
|
0.00002
|
NM_001277115.2(DNAH11):c.4843G>A (p.Ala1615Thr)
|
rs1016473135
|
0.00002
|
NM_001277115.2(DNAH11):c.4886A>G (p.Tyr1629Cys)
|
rs750494795
|
0.00002
|
NM_001277115.2(DNAH11):c.5037G>A (p.Met1679Ile)
|
rs764579746
|
0.00002
|
NM_001277115.2(DNAH11):c.5501G>A (p.Arg1834His)
|
rs750430725
|
0.00002
|
NM_001277115.2(DNAH11):c.5660T>C (p.Met1887Thr)
|
rs772423148
|
0.00002
|
NM_001277115.2(DNAH11):c.5991G>A (p.Pro1997=)
|
rs763685245
|
0.00002
|
NM_001277115.2(DNAH11):c.6005G>A (p.Arg2002Gln)
|
rs755849132
|
0.00002
|
NM_001277115.2(DNAH11):c.6032C>T (p.Ala2011Val)
|
rs375824434
|
0.00002
|
NM_001277115.2(DNAH11):c.6295G>A (p.Asp2099Asn)
|
rs750251384
|
0.00002
|
NM_001277115.2(DNAH11):c.643C>T (p.Pro215Ser)
|
rs995773912
|
0.00002
|
NM_001277115.2(DNAH11):c.6981T>A (p.Asn2327Lys)
|
rs190859156
|
0.00002
|
NM_001277115.2(DNAH11):c.7075G>C (p.Asp2359His)
|
rs989750777
|
0.00002
|
NM_001277115.2(DNAH11):c.7334C>T (p.Ser2445Leu)
|
rs180970138
|
0.00002
|
NM_001277115.2(DNAH11):c.7471C>T (p.Arg2491Cys)
|
rs267601454
|
0.00002
|
NM_001277115.2(DNAH11):c.7820G>A (p.Arg2607Lys)
|
rs376929592
|
0.00002
|
NM_001277115.2(DNAH11):c.7863C>T (p.Val2621=)
|
rs755501742
|
0.00002
|
NM_001277115.2(DNAH11):c.8353A>G (p.Ile2785Val)
|
rs776228270
|
0.00002
|
NM_001277115.2(DNAH11):c.8374A>G (p.Arg2792Gly)
|
rs974632237
|
0.00002
|
NM_001277115.2(DNAH11):c.8720C>A (p.Pro2907His)
|
rs762986683
|
0.00002
|
NM_001277115.2(DNAH11):c.9218G>A (p.Ser3073Asn)
|
rs766622461
|
0.00002
|
NM_001277115.2(DNAH11):c.9963C>T (p.Ala3321=)
|
rs370590804
|
0.00002
|
NM_001277115.2(DNAH11):c.9989C>T (p.Ala3330Val)
|
rs758992685
|
0.00002
|
NM_001364171.2(ODAD1):c.144A>G (p.Glu48=)
|
rs377679653
|
0.00002
|
NM_001364171.2(ODAD1):c.1479C>G (p.Ala493=)
|
rs777889773
|
0.00002
|
NM_001364171.2(ODAD1):c.1648G>T (p.Asp550Tyr)
|
rs776093467
|
0.00002
|
NM_001364171.2(ODAD1):c.1738G>A (p.Gly580Arg)
|
rs142301437
|
0.00002
|
NM_001364171.2(ODAD1):c.1876G>A (p.Gly626Ser)
|
rs563321170
|
0.00002
|
NM_001364171.2(ODAD1):c.1906G>A (p.Val636Met)
|
rs750861527
|
0.00002
|
NM_001364171.2(ODAD1):c.1937A>T (p.Tyr646Phe)
|
rs780723224
|
0.00002
|
NM_001364171.2(ODAD1):c.707C>T (p.Ala236Val)
|
rs374990723
|
0.00002
|
NM_001364171.2(ODAD1):c.740C>T (p.Ala247Val)
|
rs774954250
|
0.00002
|
NM_001369.3(DNAH5):c.10307G>A (p.Arg3436His)
|
rs771010026
|
0.00002
|
NM_001369.3(DNAH5):c.10396G>A (p.Glu3466Lys)
|
rs551833939
|
0.00002
|
NM_001369.3(DNAH5):c.1081A>C (p.Ser361Arg)
|
rs756837998
|
0.00002
|
NM_001369.3(DNAH5):c.11299C>T (p.Arg3767Cys)
|
rs780369063
|
0.00002
|
NM_001369.3(DNAH5):c.11401A>G (p.Ile3801Val)
|
rs750831635
|
0.00002
|
NM_001369.3(DNAH5):c.11616C>G (p.Ile3872Met)
|
rs773699669
|
0.00002
|
NM_001369.3(DNAH5):c.11685C>G (p.Phe3895Leu)
|
rs149892711
|
0.00002
|
NM_001369.3(DNAH5):c.12179T>C (p.Ile4060Thr)
|
rs774876738
|
0.00002
|
NM_001369.3(DNAH5):c.12558C>T (p.Tyr4186=)
|
rs748817131
|
0.00002
|
NM_001369.3(DNAH5):c.12617G>A (p.Trp4206Ter)
|
rs372118787
|
0.00002
|
NM_001369.3(DNAH5):c.12694G>A (p.Asp4232Asn)
|
rs564134623
|
0.00002
|
NM_001369.3(DNAH5):c.12734T>C (p.Met4245Thr)
|
rs766597612
|
0.00002
|
NM_001369.3(DNAH5):c.12944G>A (p.Gly4315Glu)
|
rs1338759362
|
0.00002
|
NM_001369.3(DNAH5):c.13005C>T (p.Thr4335=)
|
rs755271975
|
0.00002
|
NM_001369.3(DNAH5):c.13548A>C (p.Glu4516Asp)
|
rs1742000009
|
0.00002
|
NM_001369.3(DNAH5):c.1382A>G (p.Gln461Arg)
|
rs886060013
|
0.00002
|
NM_001369.3(DNAH5):c.1417T>C (p.Phe473Leu)
|
rs1162532498
|
0.00002
|
NM_001369.3(DNAH5):c.1432C>T (p.Arg478Ter)
|
rs747900131
|
0.00002
|
NM_001369.3(DNAH5):c.1658A>G (p.Lys553Arg)
|
rs767525835
|
0.00002
|
NM_001369.3(DNAH5):c.1981C>T (p.Arg661Cys)
|
rs763771549
|
0.00002
|
NM_001369.3(DNAH5):c.2048G>A (p.Arg683Gln)
|
rs142373364
|
0.00002
|
NM_001369.3(DNAH5):c.2122G>T (p.Val708Leu)
|
rs779509527
|
0.00002
|
NM_001369.3(DNAH5):c.2283A>C (p.Arg761Ser)
|
rs1162539227
|
0.00002
|
NM_001369.3(DNAH5):c.2796G>A (p.Arg932=)
|
rs374394989
|
0.00002
|
NM_001369.3(DNAH5):c.2914A>C (p.Lys972Gln)
|
rs776671484
|
0.00002
|
NM_001369.3(DNAH5):c.3344A>G (p.Glu1115Gly)
|
rs1004254149
|
0.00002
|
NM_001369.3(DNAH5):c.378A>G (p.Val126=)
|
rs377275027
|
0.00002
|
NM_001369.3(DNAH5):c.3908A>G (p.His1303Arg)
|
rs748731717
|
0.00002
|
NM_001369.3(DNAH5):c.4418T>C (p.Ile1473Thr)
|
rs779510008
|
0.00002
|
NM_001369.3(DNAH5):c.4480C>T (p.Arg1494Trp)
|
rs535366955
|
0.00002
|
NM_001369.3(DNAH5):c.4761C>G (p.Asp1587Glu)
|
rs571999271
|
0.00002
|
NM_001369.3(DNAH5):c.4773G>T (p.Leu1591Phe)
|
rs970151715
|
0.00002
|
NM_001369.3(DNAH5):c.4783C>T (p.Leu1595=)
|
rs945098046
|
0.00002
|
NM_001369.3(DNAH5):c.4880C>T (p.Thr1627Met)
|
rs745381842
|
0.00002
|
NM_001369.3(DNAH5):c.5290T>C (p.Ser1764Pro)
|
rs748763552
|
0.00002
|
NM_001369.3(DNAH5):c.5624C>T (p.Thr1875Met)
|
rs141131693
|
0.00002
|
NM_001369.3(DNAH5):c.6001G>A (p.Val2001Ile)
|
rs769656114
|
0.00002
|
NM_001369.3(DNAH5):c.636T>G (p.Gly212=)
|
rs376360357
|
0.00002
|
NM_001369.3(DNAH5):c.6416A>G (p.Lys2139Arg)
|
rs151336435
|
0.00002
|
NM_001369.3(DNAH5):c.6466C>T (p.Arg2156Cys)
|
rs779983997
|
0.00002
|
NM_001369.3(DNAH5):c.7377T>A (p.Ile2459=)
|
rs200022014
|
0.00002
|
NM_001369.3(DNAH5):c.7601C>T (p.Ala2534Val)
|
rs773382166
|
0.00002
|
NM_001369.3(DNAH5):c.7935C>T (p.Gly2645=)
|
rs780409299
|
0.00002
|
NM_001369.3(DNAH5):c.793G>A (p.Glu265Lys)
|
rs140576123
|
0.00002
|
NM_001369.3(DNAH5):c.8036T>A (p.Leu2679Gln)
|
rs1424415934
|
0.00002
|
NM_001369.3(DNAH5):c.8141A>G (p.Asn2714Ser)
|
rs1210982072
|
0.00002
|
NM_001369.3(DNAH5):c.8174C>G (p.Ser2725Cys)
|
rs764288193
|
0.00002
|
NM_001369.3(DNAH5):c.8184T>G (p.Asn2728Lys)
|
rs1469012975
|
0.00002
|
NM_001369.3(DNAH5):c.8311C>T (p.Arg2771Cys)
|
rs769557047
|
0.00002
|
NM_001369.3(DNAH5):c.841G>A (p.Val281Ile)
|
rs548585661
|
0.00002
|
NM_001369.3(DNAH5):c.8642C>G (p.Ala2881Gly)
|
rs727502973
|
0.00002
|
NM_001369.3(DNAH5):c.8875G>A (p.Gly2959Arg)
|
rs147443285
|
0.00002
|
NM_001369.3(DNAH5):c.8926G>A (p.Val2976Ile)
|
rs752086486
|
0.00002
|
NM_001369.3(DNAH5):c.9918C>T (p.Ile3306=)
|
rs373676166
|
0.00002
|
NM_003114.5(SPAG1):c.1462A>T (p.Ile488Phe)
|
rs761225786
|
0.00002
|
NM_003114.5(SPAG1):c.1870A>G (p.Lys624Glu)
|
rs376669961
|
0.00002
|
NM_003114.5(SPAG1):c.2152A>G (p.Ile718Val)
|
rs772190296
|
0.00002
|
NM_003114.5(SPAG1):c.2281G>T (p.Val761Leu)
|
rs758568364
|
0.00002
|
NM_003114.5(SPAG1):c.2399T>C (p.Ile800Thr)
|
rs199998543
|
0.00002
|
NM_003114.5(SPAG1):c.2473T>C (p.Cys825Arg)
|
rs1240396981
|
0.00002
|
NM_003114.5(SPAG1):c.2513C>T (p.Pro838Leu)
|
rs767575038
|
0.00002
|
NM_003114.5(SPAG1):c.632G>A (p.Arg211His)
|
rs181068659
|
0.00002
|
NM_003114.5(SPAG1):c.855A>T (p.Thr285=)
|
rs753349181
|
0.00002
|
NM_003611.3(OFD1):c.1190A>G (p.Asn397Ser)
|
rs755523044
|
0.00002
|
NM_003611.3(OFD1):c.1196C>T (p.Ser399Phe)
|
rs748851759
|
0.00002
|
NM_003611.3(OFD1):c.1400G>A (p.Arg467His)
|
rs375577267
|
0.00002
|
NM_003611.3(OFD1):c.1490A>G (p.His497Arg)
|
rs772474080
|
0.00002
|
NM_003611.3(OFD1):c.1809G>T (p.Met603Ile)
|
rs771742424
|
0.00002
|
NM_003611.3(OFD1):c.1823T>C (p.Ile608Thr)
|
rs2518937978
|
0.00002
|
NM_003611.3(OFD1):c.1837A>G (p.Thr613Ala)
|
rs775062213
|
0.00002
|
NM_003611.3(OFD1):c.2025G>T (p.Leu675Phe)
|
rs149473481
|
0.00002
|
NM_003611.3(OFD1):c.2074T>A (p.Phe692Ile)
|
rs1377670692
|
0.00002
|
NM_003611.3(OFD1):c.2168C>T (p.Ser723Leu)
|
rs746300545
|
0.00002
|
NM_003611.3(OFD1):c.2258A>C (p.Glu753Ala)
|
rs1382696572
|
0.00002
|
NM_003611.3(OFD1):c.2270G>C (p.Arg757Thr)
|
rs1329019794
|
0.00002
|
NM_003611.3(OFD1):c.2304C>A (p.Asp768Glu)
|
rs1285657350
|
0.00002
|
NM_003611.3(OFD1):c.2502G>A (p.Met834Ile)
|
rs2048023052
|
0.00002
|
NM_003611.3(OFD1):c.3019G>C (p.Glu1007Gln)
|
rs2519007987
|
0.00002
|
NM_003611.3(OFD1):c.353A>C (p.Asn118Thr)
|
rs761683644
|
0.00002
|
NM_003611.3(OFD1):c.3G>A (p.Met1Ile)
|
rs778840618
|
0.00002
|
NM_003611.3(OFD1):c.422T>C (p.Met141Thr)
|
rs886039860
|
0.00002
|
NM_003611.3(OFD1):c.656T>G (p.Leu219Trp)
|
rs780055525
|
0.00002
|
NM_003611.3(OFD1):c.788G>A (p.Arg263Gln)
|
rs146279923
|
0.00002
|
NM_012144.4(DNAI1):c.1132T>G (p.Tyr378Asp)
|
rs772880156
|
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.1877C>T (p.Ala626Val)
|
rs565034311
|
0.00002
|
NM_012144.4(DNAI1):c.196T>C (p.Phe66Leu)
|
rs1422515903
|
0.00002
|
NM_012144.4(DNAI1):c.1987C>T (p.Arg663Cys)
|
rs564706097
|
0.00002
|
NM_012144.4(DNAI1):c.2025G>C (p.Gln675His)
|
rs1262375059
|
0.00002
|
NM_012144.4(DNAI1):c.254G>C (p.Ser85Thr)
|
rs1242377984
|
0.00002
|
NM_012144.4(DNAI1):c.359G>A (p.Arg120Gln)
|
rs375547221
|
0.00002
|
NM_012144.4(DNAI1):c.438A>C (p.Glu146Asp)
|
rs1490899457
|
0.00002
|
NM_012144.4(DNAI1):c.791G>A (p.Arg264Lys)
|
rs755853256
|
0.00002
|
NM_012472.6(DNAAF11):c.1325G>A (p.Arg442Gln)
|
rs758116681
|
0.00002
|
NM_012472.6(DNAAF11):c.460G>A (p.Glu154Lys)
|
rs1333027351
|
0.00002
|
NM_012472.6(DNAAF11):c.814C>T (p.Arg272Trp)
|
rs780609401
|
0.00002
|
NM_016616.5(NME8):c.1277T>A (p.Leu426Ter)
|
rs121918300
|
0.00002
|
NM_016616.5(NME8):c.1302C>T (p.Ser434=)
|
rs369550926
|
0.00002
|
NM_016616.5(NME8):c.1447G>T (p.Val483Leu)
|
rs1443922266
|
0.00002
|
NM_016616.5(NME8):c.1459T>A (p.Phe487Ile)
|
rs755043696
|
0.00002
|
NM_016616.5(NME8):c.1666T>A (p.Phe556Ile)
|
rs757432890
|
0.00002
|
NM_016616.5(NME8):c.401C>T (p.Pro134Leu)
|
rs369201077
|
0.00002
|
NM_016616.5(NME8):c.479T>C (p.Ile160Thr)
|
rs764429331
|
0.00002
|
NM_016616.5(NME8):c.51A>G (p.Gln17=)
|
rs764519450
|
0.00002
|
NM_017802.4(DNAAF5):c.1083C>A (p.Leu361=)
|
rs139756611
|
0.00002
|
NM_017802.4(DNAAF5):c.11T>C (p.Leu4Pro)
|
rs1314198845
|
0.00002
|
NM_017802.4(DNAAF5):c.1231G>A (p.Asp411Asn)
|
rs748404959
|
0.00002
|
NM_017802.4(DNAAF5):c.1287G>A (p.Thr429=)
|
rs143584365
|
0.00002
|
NM_017802.4(DNAAF5):c.142C>T (p.Arg48Cys)
|
rs887769888
|
0.00002
|
NM_017802.4(DNAAF5):c.1478A>C (p.Tyr493Ser)
|
rs755636890
|
0.00002
|
NM_017802.4(DNAAF5):c.147C>T (p.Ala49=)
|
rs1377440284
|
0.00002
|
NM_017802.4(DNAAF5):c.1600G>A (p.Gly534Ser)
|
rs772828443
|
0.00002
|
NM_017802.4(DNAAF5):c.1739A>G (p.His580Arg)
|
rs762336859
|
0.00002
|
NM_017802.4(DNAAF5):c.183C>G (p.Gly61=)
|
rs1284501917
|
0.00002
|
NM_017802.4(DNAAF5):c.1857G>A (p.Pro619=)
|
rs764779473
|
0.00002
|
NM_017802.4(DNAAF5):c.1866C>T (p.Arg622=)
|
rs754316026
|
0.00002
|
NM_017802.4(DNAAF5):c.1931+2T>C
|
rs1439423086
|
0.00002
|
NM_017802.4(DNAAF5):c.2263G>A (p.Val755Met)
|
rs777468194
|
0.00002
|
NM_017802.4(DNAAF5):c.2374C>T (p.Arg792Ter)
|
rs1216182303
|
0.00002
|
NM_017802.4(DNAAF5):c.2398G>A (p.Asp800Asn)
|
rs573374202
|
0.00002
|
NM_017802.4(DNAAF5):c.2523C>T (p.Cys841=)
|
rs370588837
|
0.00002
|
NM_017802.4(DNAAF5):c.426C>T (p.Arg142=)
|
rs1464201003
|
0.00002
|
NM_017802.4(DNAAF5):c.515G>A (p.Arg172His)
|
rs1337262848
|
0.00002
|
NM_017950.4(CCDC40):c.1200T>A (p.His400Gln)
|
rs773046353
|
0.00002
|
NM_017950.4(CCDC40):c.1280C>T (p.Thr427Met)
|
rs370720427
|
0.00002
|
NM_017950.4(CCDC40):c.1409A>G (p.Asp470Gly)
|
rs754833822
|
0.00002
|
NM_017950.4(CCDC40):c.141C>T (p.Val47=)
|
rs756511342
|
0.00002
|
NM_017950.4(CCDC40):c.2117A>G (p.Asn706Ser)
|
rs2143744575
|
0.00002
|
NM_017950.4(CCDC40):c.2170G>A (p.Glu724Lys)
|
rs780935628
|
0.00002
|
NM_017950.4(CCDC40):c.2192A>G (p.Asn731Ser)
|
rs376612893
|
0.00002
|
NM_017950.4(CCDC40):c.2328C>T (p.Thr776=)
|
rs1225610254
|
0.00002
|
NM_017950.4(CCDC40):c.2671G>A (p.Glu891Lys)
|
rs773796940
|
0.00002
|
NM_017950.4(CCDC40):c.3013G>A (p.Val1005Ile)
|
rs775788498
|
0.00002
|
NM_017950.4(CCDC40):c.3066A>G (p.Thr1022=)
|
rs534912798
|
0.00002
|
NM_017950.4(CCDC40):c.308C>T (p.Pro103Leu)
|
rs769458274
|
0.00002
|
NM_017950.4(CCDC40):c.3113C>T (p.Ser1038Leu)
|
rs553780409
|
0.00002
|
NM_017950.4(CCDC40):c.3212G>A (p.Arg1071His)
|
rs142135083
|
0.00002
|
NM_017950.4(CCDC40):c.3355C>T (p.Pro1119Ser)
|
rs777697239
|
0.00002
|
NM_017950.4(CCDC40):c.3394A>G (p.Ile1132Val)
|
rs569135890
|
0.00002
|
NM_017950.4(CCDC40):c.590C>A (p.Pro197Gln)
|
rs771364741
|
0.00002
|
NM_017950.4(CCDC40):c.759C>T (p.Thr253=)
|
rs183808038
|
0.00002
|
NM_017950.4(CCDC40):c.950C>T (p.Thr317Ile)
|
rs751751403
|
0.00002
|
NM_017950.4(CCDC40):c.962G>A (p.Arg321Gln)
|
rs114740534
|
0.00002
|
NM_018076.5(ODAD2):c.1108A>C (p.Ser370Arg)
|
rs149958990
|
0.00002
|
NM_018076.5(ODAD2):c.1551A>G (p.Ile517Met)
|
rs767636563
|
0.00002
|
NM_018076.5(ODAD2):c.1612C>G (p.Pro538Ala)
|
rs566969143
|
0.00002
|
NM_018076.5(ODAD2):c.1677C>T (p.Ile559=)
|
rs182410357
|
0.00002
|
NM_018076.5(ODAD2):c.1866T>A (p.His622Gln)
|
rs761181016
|
0.00002
|
NM_018076.5(ODAD2):c.1868C>T (p.Thr623Met)
|
rs375702916
|
0.00002
|
NM_018076.5(ODAD2):c.2031C>T (p.Asn677=)
|
rs1022012517
|
0.00002
|
NM_018076.5(ODAD2):c.2617G>A (p.Gly873Arg)
|
rs765428794
|
0.00002
|
NM_018076.5(ODAD2):c.3094C>T (p.Arg1032Cys)
|
rs745364784
|
0.00002
|
NM_018076.5(ODAD2):c.325C>T (p.Arg109Cys)
|
rs753265688
|
0.00002
|
NM_018076.5(ODAD2):c.521T>C (p.Leu174Pro)
|
rs767173014
|
0.00002
|
NM_018076.5(ODAD2):c.844G>A (p.Val282Ile)
|
rs191594899
|
0.00002
|
NM_018139.3(DNAAF2):c.1047G>A (p.Val349=)
|
rs754637024
|
0.00002
|
NM_018139.3(DNAAF2):c.1072G>A (p.Ala358Thr)
|
rs1060503179
|
0.00002
|
NM_018139.3(DNAAF2):c.1228T>C (p.Ser410Pro)
|
rs746189091
|
0.00002
|
NM_018139.3(DNAAF2):c.1563G>T (p.Leu521Phe)
|
rs1485202846
|
0.00002
|
NM_018139.3(DNAAF2):c.1624C>T (p.Arg542Trp)
|
rs201615253
|
0.00002
|
NM_018139.3(DNAAF2):c.2415A>G (p.Lys805=)
|
rs201826641
|
0.00002
|
NM_018139.3(DNAAF2):c.2426T>G (p.Met809Arg)
|
rs1287126715
|
0.00002
|
NM_018139.3(DNAAF2):c.374T>C (p.Leu125Pro)
|
rs771875922
|
0.00002
|
NM_018139.3(DNAAF2):c.530G>C (p.Gly177Ala)
|
rs372399039
|
0.00002
|
NM_018139.3(DNAAF2):c.561C>T (p.Thr187=)
|
rs529083217
|
0.00002
|
NM_018139.3(DNAAF2):c.676T>C (p.Tyr226His)
|
rs566190340
|
0.00002
|
NM_018139.3(DNAAF2):c.779G>T (p.Arg260Leu)
|
rs763643131
|
0.00002
|
NM_018139.3(DNAAF2):c.86A>T (p.Asp29Val)
|
rs377462381
|
0.00002
|
NM_018139.3(DNAAF2):c.950G>A (p.Arg317Gln)
|
rs374063062
|
0.00002
|
NM_023036.6(DNAI2):c.1039C>T (p.Arg347Cys)
|
rs774602317
|
0.00002
|
NM_023036.6(DNAI2):c.1105G>A (p.Ala369Thr)
|
rs1263482357
|
0.00002
|
NM_023036.6(DNAI2):c.1278C>T (p.Thr426=)
|
rs370421003
|
0.00002
|
NM_023036.6(DNAI2):c.130C>T (p.Arg44Trp)
|
rs767042349
|
0.00002
|
NM_023036.6(DNAI2):c.1419G>A (p.Leu473=)
|
rs750246993
|
0.00002
|
NM_023036.6(DNAI2):c.1432C>T (p.Leu478=)
|
rs746968131
|
0.00002
|
NM_023036.6(DNAI2):c.1614C>T (p.Ala538=)
|
rs376265471
|
0.00002
|
NM_023036.6(DNAI2):c.1645G>A (p.Glu549Lys)
|
rs368063114
|
0.00002
|
NM_023036.6(DNAI2):c.409G>A (p.Glu137Lys)
|
rs112650114
|
0.00002
|
NM_023036.6(DNAI2):c.566G>A (p.Arg189Gln)
|
rs552610697
|
0.00002
|
NM_023036.6(DNAI2):c.610+1G>A
|
rs758109864
|
0.00002
|
NM_023036.6(DNAI2):c.894C>T (p.Ser298=)
|
rs568996957
|
0.00002
|
NM_152732.5(RSPH9):c.249C>A (p.Ser83Arg)
|
rs773953326
|
0.00002
|
NM_178452.6(DNAAF1):c.1007G>A (p.Arg336Lys)
|
rs1029568409
|
0.00002
|
NM_178452.6(DNAAF1):c.1535C>G (p.Thr512Ser)
|
rs188354520
|
0.00002
|
NM_178452.6(DNAAF1):c.154G>A (p.Gly52Ser)
|
rs143490141
|
0.00002
|
NM_178452.6(DNAAF1):c.1631C>T (p.Thr544Ile)
|
rs200046262
|
0.00002
|
NM_178452.6(DNAAF1):c.1645-2A>C
|
rs764066045
|
0.00002
|
NM_178452.6(DNAAF1):c.1864A>C (p.Thr622Pro)
|
rs922771205
|
0.00002
|
NM_178452.6(DNAAF1):c.2014C>G (p.Leu672Val)
|
rs761549054
|
0.00002
|
NM_178452.6(DNAAF1):c.433G>A (p.Glu145Lys)
|
rs376980896
|
0.00002
|
NM_178452.6(DNAAF1):c.491G>A (p.Arg164His)
|
rs750513286
|
0.00002
|
NM_178452.6(DNAAF1):c.555C>G (p.Ile185Met)
|
rs183349516
|
0.00002
|
NM_178452.6(DNAAF1):c.626C>G (p.Thr209Ser)
|
rs758172044
|
0.00002
|
NM_178452.6(DNAAF1):c.743G>A (p.Arg248His)
|
rs139283232
|
0.00002
|
NM_178452.6(DNAAF1):c.83C>T (p.Ala28Val)
|
rs775095917
|
0.00002
|
NM_181426.2(CCDC39):c.1247A>G (p.Glu416Gly)
|
rs757515577
|
0.00002
|
NM_181426.2(CCDC39):c.1486T>A (p.Ser496Thr)
|
rs951458613
|
0.00002
|
NM_181426.2(CCDC39):c.2346A>G (p.Ser782=)
|
rs1196118420
|
0.00002
|
NM_181426.2(CCDC39):c.2485C>T (p.Arg829Cys)
|
rs781020567
|
0.00002
|
NM_181426.2(CCDC39):c.2555T>A (p.Ile852Asn)
|
rs764437057
|
0.00002
|
NM_181426.2(CCDC39):c.2758A>G (p.Ser920Gly)
|
rs977401121
|
0.00002
|
NM_181426.2(CCDC39):c.395T>C (p.Leu132Ser)
|
rs750476985
|
0.00002
|
NM_213607.3(DNAAF19):c.181C>T (p.Arg61Trp)
|
rs763938078
|
0.00002
|
NM_000328.3(RPGR):c.2120C>T (p.Ala707Val)
|
rs1172746559
|
0.00001
|
NM_000328.3(RPGR):c.2242A>G (p.Ile748Val)
|
rs2066803160
|
0.00001
|
NM_000328.3(RPGR):c.2304G>A (p.Pro768=)
|
rs781426804
|
0.00001
|
NM_001010892.3(RSPH4A):c.1021C>T (p.Leu341Phe)
|
rs1417495937
|
0.00001
|
NM_001010892.3(RSPH4A):c.1061G>A (p.Arg354His)
|
rs367712020
|
0.00001
|
NM_001010892.3(RSPH4A):c.1120C>T (p.Arg374Cys)
|
rs768193419
|
0.00001
|
NM_001010892.3(RSPH4A):c.117G>T (p.Ser39=)
|
rs747764316
|
0.00001
|
NM_001010892.3(RSPH4A):c.1221A>G (p.Pro407=)
|
rs1042214742
|
0.00001
|
NM_001010892.3(RSPH4A):c.1246G>T (p.Ala416Ser)
|
rs765312681
|
0.00001
|
NM_001010892.3(RSPH4A):c.1394G>A (p.Arg465Gln)
|
rs777456038
|
0.00001
|
NM_001010892.3(RSPH4A):c.1410C>G (p.Ile470Met)
|
rs775326896
|
0.00001
|
NM_001010892.3(RSPH4A):c.1497T>G (p.Pro499=)
|
rs758354149
|
0.00001
|
NM_001010892.3(RSPH4A):c.1498C>T (p.Leu500=)
|
rs779913947
|
0.00001
|
NM_001010892.3(RSPH4A):c.1705G>A (p.Glu569Lys)
|
rs1391501802
|
0.00001
|
NM_001010892.3(RSPH4A):c.1813C>A (p.Pro605Thr)
|
rs767086063
|
0.00001
|
NM_001010892.3(RSPH4A):c.1829G>A (p.Arg610Gln)
|
rs751741926
|
0.00001
|
NM_001010892.3(RSPH4A):c.1934A>G (p.Tyr645Cys)
|
rs746646378
|
0.00001
|
NM_001010892.3(RSPH4A):c.2093T>G (p.Leu698Arg)
|
rs780723973
|
0.00001
|
NM_001010892.3(RSPH4A):c.2094C>T (p.Leu698=)
|
rs747726459
|
0.00001
|
NM_001010892.3(RSPH4A):c.260C>T (p.Pro87Leu)
|
rs202006186
|
0.00001
|
NM_001010892.3(RSPH4A):c.279T>C (p.Ser93=)
|
rs755522050
|
0.00001
|
NM_001010892.3(RSPH4A):c.492G>A (p.Arg164=)
|
rs532331878
|
0.00001
|
NM_001010892.3(RSPH4A):c.563G>A (p.Ser188Asn)
|
rs376372993
|
0.00001
|
NM_001010892.3(RSPH4A):c.694C>A (p.His232Asn)
|
rs373136924
|
0.00001
|
NM_001010892.3(RSPH4A):c.711G>A (p.Leu237=)
|
rs752300778
|
0.00001
|
NM_001010892.3(RSPH4A):c.727G>A (p.Glu243Lys)
|
rs756946037
|
0.00001
|
NM_001010892.3(RSPH4A):c.829T>C (p.Leu277=)
|
rs1039701362
|
0.00001
|
NM_001010892.3(RSPH4A):c.832C>T (p.Leu278Phe)
|
rs962694294
|
0.00001
|
NM_001010892.3(RSPH4A):c.916G>A (p.Glu306Lys)
|
rs781463706
|
0.00001
|
NM_001034853.2(RPGR):c.1175C>T (p.Pro392Leu)
|
rs372004762
|
0.00001
|
NM_001034853.2(RPGR):c.16G>C (p.Glu6Gln)
|
rs1199553512
|
0.00001
|
NM_001034853.2(RPGR):c.320A>G (p.Asn107Ser)
|
rs748199207
|
0.00001
|
NM_001034853.2(RPGR):c.673C>T (p.Pro225Ser)
|
rs150477878
|
0.00001
|
NM_001034853.2(RPGR):c.746C>T (p.Ala249Val)
|
rs1251721610
|
0.00001
|
NM_001256715.2(DNAAF3):c.-59C>T
|
rs376972065
|
0.00001
|
NM_001256715.2(DNAAF3):c.1017C>A (p.His339Gln)
|
rs560113507
|
0.00001
|
NM_001256715.2(DNAAF3):c.1108C>T (p.Leu370Phe)
|
rs78107552
|
0.00001
|
NM_001256715.2(DNAAF3):c.1214G>A (p.Gly405Glu)
|
rs1420233909
|
0.00001
|
NM_001256715.2(DNAAF3):c.1218C>G (p.Asn406Lys)
|
rs918171964
|
0.00001
|
NM_001256715.2(DNAAF3):c.1360T>G (p.Phe454Val)
|
rs746688785
|
0.00001
|
NM_001256715.2(DNAAF3):c.1431C>T (p.Asp477=)
|
rs759571188
|
0.00001
|
NM_001256715.2(DNAAF3):c.1543G>A (p.Gly515Ser)
|
rs760590357
|
0.00001
|
NM_001256715.2(DNAAF3):c.189C>A (p.Thr63=)
|
rs773677511
|
0.00001
|
NM_001256715.2(DNAAF3):c.265C>T (p.Arg89Ter)
|
rs387907152
|
0.00001
|
NM_001256715.2(DNAAF3):c.28G>A (p.Gly10Ser)
|
rs375170399
|
0.00001
|
NM_001256715.2(DNAAF3):c.290C>T (p.Ala97Val)
|
rs763080959
|
0.00001
|
NM_001256715.2(DNAAF3):c.368G>A (p.Arg123His)
|
rs1432760382
|
0.00001
|
NM_001256715.2(DNAAF3):c.484C>A (p.Arg162Ser)
|
rs760391305
|
0.00001
|
NM_001256715.2(DNAAF3):c.491G>A (p.Arg164Gln)
|
rs771839338
|
0.00001
|
NM_001256715.2(DNAAF3):c.563G>A (p.Arg188His)
|
rs977303439
|
0.00001
|
NM_001256715.2(DNAAF3):c.661G>A (p.Gly221Arg)
|
rs1302666486
|
0.00001
|
NM_001256715.2(DNAAF3):c.702G>A (p.Arg234=)
|
rs748535286
|
0.00001
|
NM_001256715.2(DNAAF3):c.773G>C (p.Gly258Ala)
|
rs776223691
|
0.00001
|
NM_001256715.2(DNAAF3):c.782T>C (p.Leu261Pro)
|
rs534298243
|
0.00001
|
NM_001256715.2(DNAAF3):c.800G>C (p.Arg267Pro)
|
rs753871688
|
0.00001
|
NM_001256715.2(DNAAF3):c.851C>A (p.Ala284Asp)
|
rs966788457
|
0.00001
|
NM_001256715.2(DNAAF3):c.904C>A (p.Pro302Thr)
|
rs920224734
|
0.00001
|
NM_001256715.2(DNAAF3):c.922G>A (p.Glu308Lys)
|
rs1026878171
|
0.00001
|
NM_001256715.2(DNAAF3):c.951G>C (p.Leu317=)
|
rs750912221
|
0.00001
|
NM_001256715.2(DNAAF3):c.960C>G (p.Asp320Glu)
|
rs200938793
|
0.00001
|
NM_001256715.2(DNAAF3):c.989C>T (p.Thr330Ile)
|
rs545243133
|
0.00001
|
NM_001277115.2(DNAH11):c.10005G>C (p.Glu3335Asp)
|
rs771208403
|
0.00001
|
NM_001277115.2(DNAH11):c.1002T>C (p.Asp334=)
|
rs370925563
|
0.00001
|
NM_001277115.2(DNAH11):c.10041T>A (p.Asn3347Lys)
|
rs772016314
|
0.00001
|
NM_001277115.2(DNAH11):c.10064T>C (p.Phe3355Ser)
|
rs757740647
|
0.00001
|
NM_001277115.2(DNAH11):c.10085A>C (p.Lys3362Thr)
|
rs756499246
|
0.00001
|
NM_001277115.2(DNAH11):c.10296G>A (p.Leu3432=)
|
rs991207165
|
0.00001
|
NM_001277115.2(DNAH11):c.10317C>G (p.Pro3439=)
|
rs1271974995
|
0.00001
|
NM_001277115.2(DNAH11):c.10324C>T (p.Gln3442Ter)
|
rs72657393
|
0.00001
|
NM_001277115.2(DNAH11):c.10562A>G (p.Gln3521Arg)
|
rs2128000172
|
0.00001
|
NM_001277115.2(DNAH11):c.10666G>A (p.Gly3556Ser)
|
rs1789899861
|
0.00001
|
NM_001277115.2(DNAH11):c.10748T>C (p.Leu3583Pro)
|
rs1238887554
|
0.00001
|
NM_001277115.2(DNAH11):c.10795C>G (p.Gln3599Glu)
|
rs1782255875
|
0.00001
|
NM_001277115.2(DNAH11):c.10963T>C (p.Leu3655=)
|
rs1348999489
|
0.00001
|
NM_001277115.2(DNAH11):c.11029A>G (p.Thr3677Ala)
|
rs190727141
|
0.00001
|
NM_001277115.2(DNAH11):c.11062-4A>G
|
rs376085865
|
0.00001
|
NM_001277115.2(DNAH11):c.11141T>A (p.Leu3714His)
|
rs1230748044
|
0.00001
|
NM_001277115.2(DNAH11):c.11177A>T (p.Asn3726Ile)
|
rs1373207381
|
0.00001
|
NM_001277115.2(DNAH11):c.11181C>A (p.Pro3727=)
|
rs1307164299
|
0.00001
|
NM_001277115.2(DNAH11):c.11271C>G (p.Ile3757Met)
|
rs757371608
|
0.00001
|
NM_001277115.2(DNAH11):c.11276T>A (p.Ile3759Asn)
|
rs746315507
|
0.00001
|
NM_001277115.2(DNAH11):c.11385A>G (p.Arg3795=)
|
rs973221126
|
0.00001
|
NM_001277115.2(DNAH11):c.11459T>C (p.Val3820Ala)
|
rs760795257
|
0.00001
|
NM_001277115.2(DNAH11):c.11546G>T (p.Gly3849Val)
|
rs145735492
|
0.00001
|
NM_001277115.2(DNAH11):c.11559G>C (p.Gln3853His)
|
rs775980603
|
0.00001
|
NM_001277115.2(DNAH11):c.11650C>G (p.Leu3884Val)
|
rs748676766
|
0.00001
|
NM_001277115.2(DNAH11):c.11654G>T (p.Arg3885Ile)
|
rs772385542
|
0.00001
|
NM_001277115.2(DNAH11):c.11683G>A (p.Ala3895Thr)
|
rs1203128467
|
0.00001
|
NM_001277115.2(DNAH11):c.11771G>T (p.Ser3924Ile)
|
rs1034957876
|
0.00001
|
NM_001277115.2(DNAH11):c.11872A>C (p.Lys3958Gln)
|
rs1360840874
|
0.00001
|
NM_001277115.2(DNAH11):c.11875T>G (p.Phe3959Val)
|
rs374323457
|
0.00001
|
NM_001277115.2(DNAH11):c.1187T>A (p.Ile396Asn)
|
rs763405163
|
0.00001
|
NM_001277115.2(DNAH11):c.11882A>G (p.Asn3961Ser)
|
rs186794216
|
0.00001
|
NM_001277115.2(DNAH11):c.12045T>C (p.Asp4015=)
|
rs537127251
|
0.00001
|
NM_001277115.2(DNAH11):c.12046T>G (p.Tyr4016Asp)
|
rs747067327
|
0.00001
|
NM_001277115.2(DNAH11):c.12058A>G (p.Met4020Val)
|
rs765636819
|
0.00001
|
NM_001277115.2(DNAH11):c.12329C>A (p.Pro4110His)
|
rs753983449
|
0.00001
|
NM_001277115.2(DNAH11):c.12377C>G (p.Ala4126Gly)
|
rs140189037
|
0.00001
|
NM_001277115.2(DNAH11):c.1247C>A (p.Ser416Ter)
|
rs1783826754
|
0.00001
|
NM_001277115.2(DNAH11):c.12492C>T (p.Phe4164=)
|
rs1472030900
|
0.00001
|
NM_001277115.2(DNAH11):c.12670A>G (p.Thr4224Ala)
|
rs748398869
|
0.00001
|
NM_001277115.2(DNAH11):c.12735G>A (p.Gln4245=)
|
rs1396708463
|
0.00001
|
NM_001277115.2(DNAH11):c.12741A>C (p.Thr4247=)
|
rs777902021
|
0.00001
|
NM_001277115.2(DNAH11):c.12781A>G (p.Lys4261Glu)
|
rs1463277085
|
0.00001
|
NM_001277115.2(DNAH11):c.12815T>C (p.Met4272Thr)
|
rs1049304176
|
0.00001
|
NM_001277115.2(DNAH11):c.12885C>T (p.Leu4295=)
|
rs2128048941
|
0.00001
|
NM_001277115.2(DNAH11):c.12890G>A (p.Arg4297Gln)
|
rs780660397
|
0.00001
|
NM_001277115.2(DNAH11):c.13054A>T (p.Asn4352Tyr)
|
rs144401534
|
0.00001
|
NM_001277115.2(DNAH11):c.13083C>T (p.Leu4361=)
|
rs755777338
|
0.00001
|
NM_001277115.2(DNAH11):c.13276G>A (p.Ala4426Thr)
|
rs771449722
|
0.00001
|
NM_001277115.2(DNAH11):c.13455G>A (p.Leu4485=)
|
rs1489602749
|
0.00001
|
NM_001277115.2(DNAH11):c.13469A>T (p.Tyr4490Phe)
|
rs1320072390
|
0.00001
|
NM_001277115.2(DNAH11):c.13545A>G (p.Glu4515=)
|
rs1378301702
|
0.00001
|
NM_001277115.2(DNAH11):c.1367A>G (p.Gln456Arg)
|
rs2534520159
|
0.00001
|
NM_001277115.2(DNAH11):c.1468C>T (p.Leu490=)
|
rs758448845
|
0.00001
|
NM_001277115.2(DNAH11):c.152G>C (p.Arg51Pro)
|
rs753634502
|
0.00001
|
NM_001277115.2(DNAH11):c.177G>T (p.Val59=)
|
rs751721373
|
0.00001
|
NM_001277115.2(DNAH11):c.1892C>G (p.Thr631Ser)
|
rs1392626156
|
0.00001
|
NM_001277115.2(DNAH11):c.1964T>C (p.Leu655Pro)
|
rs1784559898
|
0.00001
|
NM_001277115.2(DNAH11):c.19G>A (p.Ala7Thr)
|
rs755966311
|
0.00001
|
NM_001277115.2(DNAH11):c.2028C>T (p.Thr676=)
|
rs1784591165
|
0.00001
|
NM_001277115.2(DNAH11):c.2244C>G (p.Ala748=)
|
rs747046328
|
0.00001
|
NM_001277115.2(DNAH11):c.2252A>G (p.Lys751Arg)
|
rs377077037
|
0.00001
|
NM_001277115.2(DNAH11):c.2333T>C (p.Leu778Pro)
|
rs1784668263
|
0.00001
|
NM_001277115.2(DNAH11):c.2403G>A (p.Thr801=)
|
rs767657769
|
0.00001
|
NM_001277115.2(DNAH11):c.2440G>A (p.Glu814Lys)
|
rs529566924
|
0.00001
|
NM_001277115.2(DNAH11):c.2441A>G (p.Glu814Gly)
|
rs776262883
|
0.00001
|
NM_001277115.2(DNAH11):c.2476A>G (p.Arg826Gly)
|
rs760855822
|
0.00001
|
NM_001277115.2(DNAH11):c.2515C>G (p.Gln839Glu)
|
rs1427132712
|
0.00001
|
NM_001277115.2(DNAH11):c.2563C>T (p.His855Tyr)
|
rs1252556407
|
0.00001
|
NM_001277115.2(DNAH11):c.2596A>G (p.Lys866Glu)
|
rs774136727
|
0.00001
|
NM_001277115.2(DNAH11):c.2614A>G (p.Lys872Glu)
|
rs1211920866
|
0.00001
|
NM_001277115.2(DNAH11):c.2665G>A (p.Glu889Lys)
|
rs767231963
|
0.00001
|
NM_001277115.2(DNAH11):c.2689G>A (p.Ala897Thr)
|
rs767822847
|
0.00001
|
NM_001277115.2(DNAH11):c.2880C>T (p.Ser960=)
|
rs1785014151
|
0.00001
|
NM_001277115.2(DNAH11):c.3002A>G (p.Asn1001Ser)
|
rs1468087350
|
0.00001
|
NM_001277115.2(DNAH11):c.3050T>G (p.Met1017Arg)
|
rs949130021
|
0.00001
|
NM_001277115.2(DNAH11):c.305T>C (p.Leu102Pro)
|
rs1206558265
|
0.00001
|
NM_001277115.2(DNAH11):c.3183C>T (p.Ser1061=)
|
rs528143053
|
0.00001
|
NM_001277115.2(DNAH11):c.3263T>C (p.Ile1088Thr)
|
rs755583135
|
0.00001
|
NM_001277115.2(DNAH11):c.3320G>A (p.Ser1107Asn)
|
rs746194866
|
0.00001
|
NM_001277115.2(DNAH11):c.3345T>C (p.Pro1115=)
|
rs1180402925
|
0.00001
|
NM_001277115.2(DNAH11):c.3353T>C (p.Val1118Ala)
|
rs753277227
|
0.00001
|
NM_001277115.2(DNAH11):c.3426-1G>A
|
rs774855011
|
0.00001
|
NM_001277115.2(DNAH11):c.346C>G (p.Gln116Glu)
|
rs374802008
|
0.00001
|
NM_001277115.2(DNAH11):c.3544C>T (p.Arg1182Ter)
|
rs374107286
|
0.00001
|
NM_001277115.2(DNAH11):c.3577C>T (p.Leu1193=)
|
rs746164181
|
0.00001
|
NM_001277115.2(DNAH11):c.3608A>G (p.Tyr1203Cys)
|
rs1277514397
|
0.00001
|
NM_001277115.2(DNAH11):c.3706G>C (p.Val1236Leu)
|
rs777319170
|
0.00001
|
NM_001277115.2(DNAH11):c.3714T>G (p.Pro1238=)
|
rs780975797
|
0.00001
|
NM_001277115.2(DNAH11):c.3775G>A (p.Ala1259Thr)
|
rs763751899
|
0.00001
|
NM_001277115.2(DNAH11):c.3876A>T (p.Leu1292Phe)
|
rs1469978035
|
0.00001
|
NM_001277115.2(DNAH11):c.3959G>A (p.Arg1320His)
|
rs1173183119
|
0.00001
|
NM_001277115.2(DNAH11):c.4014A>G (p.Arg1338=)
|
rs752711407
|
0.00001
|
NM_001277115.2(DNAH11):c.4066A>G (p.Met1356Val)
|
rs1388797554
|
0.00001
|
NM_001277115.2(DNAH11):c.4121T>G (p.Val1374Gly)
|
rs1477480079
|
0.00001
|
NM_001277115.2(DNAH11):c.4127T>A (p.Val1376Asp)
|
rs373292392
|
0.00001
|
NM_001277115.2(DNAH11):c.4132G>A (p.Asp1378Asn)
|
rs752199848
|
0.00001
|
NM_001277115.2(DNAH11):c.4164G>A (p.Lys1388=)
|
rs377689546
|
0.00001
|
NM_001277115.2(DNAH11):c.4209T>A (p.Pro1403=)
|
rs1347131272
|
0.00001
|
NM_001277115.2(DNAH11):c.4249A>T (p.Ile1417Phe)
|
rs1785849179
|
0.00001
|
NM_001277115.2(DNAH11):c.4256T>A (p.Val1419Asp)
|
rs778176102
|
0.00001
|
NM_001277115.2(DNAH11):c.4300G>A (p.Ala1434Thr)
|
rs772534040
|
0.00001
|
NM_001277115.2(DNAH11):c.4318G>C (p.Val1440Leu)
|
rs753773546
|
0.00001
|
NM_001277115.2(DNAH11):c.4334G>A (p.Arg1445Gln)
|
rs751896015
|
0.00001
|
NM_001277115.2(DNAH11):c.4401C>T (p.Thr1467=)
|
rs769796760
|
0.00001
|
NM_001277115.2(DNAH11):c.4458A>G (p.Leu1486=)
|
rs768404181
|
0.00001
|
NM_001277115.2(DNAH11):c.4491G>A (p.Glu1497=)
|
rs564202359
|
0.00001
|
NM_001277115.2(DNAH11):c.4532A>T (p.Tyr1511Phe)
|
rs565283604
|
0.00001
|
NM_001277115.2(DNAH11):c.4563C>G (p.Ser1521Arg)
|
rs1786842841
|
0.00001
|
NM_001277115.2(DNAH11):c.459G>A (p.Ala153=)
|
rs770376516
|
0.00001
|
NM_001277115.2(DNAH11):c.4621C>T (p.Arg1541Ter)
|
rs757013900
|
0.00001
|
NM_001277115.2(DNAH11):c.4672A>T (p.Ile1558Phe)
|
rs1786849433
|
0.00001
|
NM_001277115.2(DNAH11):c.4713T>C (p.Asp1571=)
|
rs72657324
|
0.00001
|
NM_001277115.2(DNAH11):c.4772C>T (p.Thr1591Met)
|
rs778000913
|
0.00001
|
NM_001277115.2(DNAH11):c.4774T>G (p.Cys1592Gly)
|
rs2534777477
|
0.00001
|
NM_001277115.2(DNAH11):c.4786C>T (p.Leu1596Phe)
|
rs1433172197
|
0.00001
|
NM_001277115.2(DNAH11):c.4805A>G (p.Asp1602Gly)
|
rs548213797
|
0.00001
|
NM_001277115.2(DNAH11):c.4823C>G (p.Ser1608Cys)
|
rs1289254168
|
0.00001
|
NM_001277115.2(DNAH11):c.4864C>T (p.Arg1622Cys)
|
rs566705895
|
0.00001
|
NM_001277115.2(DNAH11):c.4879C>T (p.Arg1627Cys)
|
rs727502967
|
0.00001
|
NM_001277115.2(DNAH11):c.4957C>T (p.Leu1653Phe)
|
rs1022623191
|
0.00001
|
NM_001277115.2(DNAH11):c.5043C>T (p.Ser1681=)
|
rs1374986860
|
0.00001
|
NM_001277115.2(DNAH11):c.5067C>T (p.Phe1689=)
|
rs374856649
|
0.00001
|
NM_001277115.2(DNAH11):c.5194C>G (p.Leu1732Val)
|
rs745519889
|
0.00001
|
NM_001277115.2(DNAH11):c.5242A>G (p.Ile1748Val)
|
rs377210446
|
0.00001
|
NM_001277115.2(DNAH11):c.5283G>C (p.Leu1761=)
|
rs1060504813
|
0.00001
|
NM_001277115.2(DNAH11):c.529C>T (p.His177Tyr)
|
rs752016007
|
0.00001
|
NM_001277115.2(DNAH11):c.5350A>G (p.Ile1784Val)
|
rs764134388
|
0.00001
|
NM_001277115.2(DNAH11):c.5395A>C (p.Ile1799Leu)
|
rs1366183602
|
0.00001
|
NM_001277115.2(DNAH11):c.5413A>G (p.Ile1805Val)
|
rs776549742
|
0.00001
|
NM_001277115.2(DNAH11):c.5433C>A (p.Asp1811Glu)
|
rs761154725
|
0.00001
|
NM_001277115.2(DNAH11):c.5475A>G (p.Gln1825=)
|
rs373354778
|
0.00001
|
NM_001277115.2(DNAH11):c.5492C>G (p.Ser1831Cys)
|
rs751199223
|
0.00001
|
NM_001277115.2(DNAH11):c.5503C>T (p.His1835Tyr)
|
rs1783248117
|
0.00001
|
NM_001277115.2(DNAH11):c.5594G>A (p.Arg1865Gln)
|
rs749869317
|
0.00001
|
NM_001277115.2(DNAH11):c.5613A>G (p.Leu1871=)
|
rs546155868
|
0.00001
|
NM_001277115.2(DNAH11):c.5674G>A (p.Ala1892Thr)
|
rs1339960032
|
0.00001
|
NM_001277115.2(DNAH11):c.5734A>G (p.Met1912Val)
|
rs886038470
|
0.00001
|
NM_001277115.2(DNAH11):c.5737A>G (p.Met1913Val)
|
rs1352586389
|
0.00001
|
NM_001277115.2(DNAH11):c.5846G>A (p.Arg1949Gln)
|
rs761919869
|
0.00001
|
NM_001277115.2(DNAH11):c.5919G>T (p.Lys1973Asn)
|
rs1327756504
|
0.00001
|
NM_001277115.2(DNAH11):c.595A>G (p.Met199Val)
|
rs199821847
|
0.00001
|
NM_001277115.2(DNAH11):c.6078C>T (p.Ile2026=)
|
rs769000578
|
0.00001
|
NM_001277115.2(DNAH11):c.6089T>C (p.Leu2030Ser)
|
rs769169485
|
0.00001
|
NM_001277115.2(DNAH11):c.6180+3G>A
|
rs1418531861
|
0.00001
|
NM_001277115.2(DNAH11):c.6185A>G (p.His2062Arg)
|
rs777405662
|
0.00001
|
NM_001277115.2(DNAH11):c.6281T>C (p.Met2094Thr)
|
rs1304820248
|
0.00001
|
NM_001277115.2(DNAH11):c.6325G>T (p.Asp2109Tyr)
|
rs760217754
|
0.00001
|
NM_001277115.2(DNAH11):c.6406C>T (p.Gln2136Ter)
|
rs1261633400
|
0.00001
|
NM_001277115.2(DNAH11):c.6572A>G (p.Tyr2191Cys)
|
rs1345311391
|
0.00001
|
NM_001277115.2(DNAH11):c.6604G>A (p.Asp2202Asn)
|
rs186535951
|
0.00001
|
NM_001277115.2(DNAH11):c.6687T>C (p.Ile2229=)
|
rs1254552538
|
0.00001
|
NM_001277115.2(DNAH11):c.671A>G (p.Asp224Gly)
|
rs770195775
|
0.00001
|
NM_001277115.2(DNAH11):c.674A>G (p.Gln225Arg)
|
rs970001175
|
0.00001
|
NM_001277115.2(DNAH11):c.678T>C (p.Asn226=)
|
rs749387527
|
0.00001
|
NM_001277115.2(DNAH11):c.692+3A>G
|
rs764774028
|
0.00001
|
NM_001277115.2(DNAH11):c.6923C>T (p.Pro2308Leu)
|
rs376475480
|
0.00001
|
NM_001277115.2(DNAH11):c.6941C>G (p.Ala2314Gly)
|
rs372541483
|
0.00001
|
NM_001277115.2(DNAH11):c.7085G>C (p.Arg2362Thr)
|
rs761114761
|
0.00001
|
NM_001277115.2(DNAH11):c.7104C>A (p.Ile2368=)
|
rs764940440
|
0.00001
|
NM_001277115.2(DNAH11):c.7115C>G (p.Pro2372Arg)
|
rs1428341575
|
0.00001
|
NM_001277115.2(DNAH11):c.7144G>A (p.Val2382Ile)
|
rs756010097
|
0.00001
|
NM_001277115.2(DNAH11):c.7184C>G (p.Ser2395Cys)
|
rs1784844777
|
0.00001
|
NM_001277115.2(DNAH11):c.7273G>C (p.Asp2425His)
|
rs374151422
|
0.00001
|
NM_001277115.2(DNAH11):c.7337A>G (p.Gln2446Arg)
|
rs756225547
|
0.00001
|
NM_001277115.2(DNAH11):c.7379A>G (p.Lys2460Arg)
|
rs770671851
|
0.00001
|
NM_001277115.2(DNAH11):c.7486A>G (p.Met2496Val)
|
rs776955021
|
0.00001
|
NM_001277115.2(DNAH11):c.7527A>G (p.Val2509=)
|
rs745441939
|
0.00001
|
NM_001277115.2(DNAH11):c.7559T>C (p.Val2520Ala)
|
rs777454538
|
0.00001
|
NM_001277115.2(DNAH11):c.7696G>A (p.Gly2566Arg)
|
rs1399609437
|
0.00001
|
NM_001277115.2(DNAH11):c.7731C>G (p.Asp2577Glu)
|
rs372436526
|
0.00001
|
NM_001277115.2(DNAH11):c.7786C>T (p.Arg2596Trp)
|
rs770163877
|
0.00001
|
NM_001277115.2(DNAH11):c.7847A>G (p.His2616Arg)
|
rs750580632
|
0.00001
|
NM_001277115.2(DNAH11):c.7887C>T (p.Gly2629=)
|
rs1260674153
|
0.00001
|
NM_001277115.2(DNAH11):c.7954G>A (p.Asp2652Asn)
|
rs749250864
|
0.00001
|
NM_001277115.2(DNAH11):c.7982T>C (p.Ile2661Thr)
|
rs372730542
|
0.00001
|
NM_001277115.2(DNAH11):c.7998C>T (p.Phe2666=)
|
rs764608320
|
0.00001
|
NM_001277115.2(DNAH11):c.8015C>T (p.Ala2672Val)
|
rs1339423010
|
0.00001
|
NM_001277115.2(DNAH11):c.8059A>G (p.Ile2687Val)
|
rs777290108
|
0.00001
|
NM_001277115.2(DNAH11):c.8060T>C (p.Ile2687Thr)
|
rs564514095
|
0.00001
|
NM_001277115.2(DNAH11):c.8076_8077del (p.Met2693fs)
|
rs1785931346
|
0.00001
|
NM_001277115.2(DNAH11):c.8098A>G (p.Thr2700Ala)
|
rs376421903
|
0.00001
|
NM_001277115.2(DNAH11):c.8099C>T (p.Thr2700Met)
|
rs369684624
|
0.00001
|
NM_001277115.2(DNAH11):c.811C>T (p.His271Tyr)
|
rs751575627
|
0.00001
|
NM_001277115.2(DNAH11):c.8146G>A (p.Val2716Ile)
|
rs368833424
|
0.00001
|
NM_001277115.2(DNAH11):c.8147T>C (p.Val2716Ala)
|
rs777735154
|
0.00001
|
NM_001277115.2(DNAH11):c.820C>T (p.Pro274Ser)
|
rs1443828697
|
0.00001
|
NM_001277115.2(DNAH11):c.8252T>C (p.Ile2751Thr)
|
rs774996068
|
0.00001
|
NM_001277115.2(DNAH11):c.8255A>T (p.Asp2752Val)
|
rs768309014
|
0.00001
|
NM_001277115.2(DNAH11):c.8292G>T (p.Leu2764=)
|
rs570532098
|
0.00001
|
NM_001277115.2(DNAH11):c.8326A>T (p.Ser2776Cys)
|
rs776416139
|
0.00001
|
NM_001277115.2(DNAH11):c.8345A>T (p.Gln2782Leu)
|
rs1420930266
|
0.00001
|
NM_001277115.2(DNAH11):c.847A>G (p.Met283Val)
|
rs368102189
|
0.00001
|
NM_001277115.2(DNAH11):c.8573G>A (p.Gly2858Asp)
|
rs757621175
|
0.00001
|
NM_001277115.2(DNAH11):c.8578G>A (p.Gly2860Ser)
|
rs377630570
|
0.00001
|
NM_001277115.2(DNAH11):c.8639C>G (p.Thr2880Ser)
|
rs1786270841
|
0.00001
|
NM_001277115.2(DNAH11):c.8672G>A (p.Arg2891Gln)
|
rs1317476414
|
0.00001
|
NM_001277115.2(DNAH11):c.8680C>G (p.Leu2894Val)
|
rs778125255
|
0.00001
|
NM_001277115.2(DNAH11):c.8684C>T (p.Ala2895Val)
|
rs530087550
|
0.00001
|
NM_001277115.2(DNAH11):c.8722A>G (p.Thr2908Ala)
|
rs764062064
|
0.00001
|
NM_001277115.2(DNAH11):c.8752C>G (p.Leu2918Val)
|
rs1216328081
|
0.00001
|
NM_001277115.2(DNAH11):c.8805C>A (p.Ile2935=)
|
rs985677182
|
0.00001
|
NM_001277115.2(DNAH11):c.8829T>A (p.Asp2943Glu)
|
rs886038474
|
0.00001
|
NM_001277115.2(DNAH11):c.883-4T>G
|
rs781560218
|
0.00001
|
NM_001277115.2(DNAH11):c.8842A>G (p.Ile2948Val)
|
rs1343210471
|
0.00001
|
NM_001277115.2(DNAH11):c.8880G>A (p.Met2960Ile)
|
rs80267624
|
0.00001
|
NM_001277115.2(DNAH11):c.8958T>G (p.Ser2986=)
|
rs1284717783
|
0.00001
|
NM_001277115.2(DNAH11):c.9095G>A (p.Gly3032Glu)
|
rs1490098860
|
0.00001
|
NM_001277115.2(DNAH11):c.9152C>T (p.Thr3051Ile)
|
rs1335985800
|
0.00001
|
NM_001277115.2(DNAH11):c.9166A>G (p.Ser3056Gly)
|
rs924923201
|
0.00001
|
NM_001277115.2(DNAH11):c.9176A>C (p.Tyr3059Ser)
|
rs781116833
|
0.00001
|
NM_001277115.2(DNAH11):c.9219T>C (p.Ser3073=)
|
rs1326485426
|
0.00001
|
NM_001277115.2(DNAH11):c.925A>G (p.Thr309Ala)
|
rs563007836
|
0.00001
|
NM_001277115.2(DNAH11):c.9294C>T (p.Arg3098=)
|
rs562256432
|
0.00001
|
NM_001277115.2(DNAH11):c.9304G>A (p.Gly3102Ser)
|
rs943669191
|
0.00001
|
NM_001277115.2(DNAH11):c.9311A>G (p.Gln3104Arg)
|
rs759715306
|
0.00001
|
NM_001277115.2(DNAH11):c.9322A>T (p.Thr3108Ser)
|
rs1299477816
|
0.00001
|
NM_001277115.2(DNAH11):c.9383A>G (p.Gln3128Arg)
|
rs1420015565
|
0.00001
|
NM_001277115.2(DNAH11):c.938G>T (p.Ser313Ile)
|
rs1388667729
|
0.00001
|
NM_001277115.2(DNAH11):c.9396T>C (p.His3132=)
|
rs987268164
|
0.00001
|
NM_001277115.2(DNAH11):c.9448C>T (p.Arg3150Trp)
|
rs761102719
|
0.00001
|
NM_001277115.2(DNAH11):c.9462C>T (p.Ile3154=)
|
rs764817397
|
0.00001
|
NM_001277115.2(DNAH11):c.9510C>T (p.Phe3170=)
|
rs758640720
|
0.00001
|
NM_001277115.2(DNAH11):c.956A>G (p.Lys319Arg)
|
rs759321222
|
0.00001
|
NM_001277115.2(DNAH11):c.958G>A (p.Asp320Asn)
|
rs376353940
|
0.00001
|
NM_001277115.2(DNAH11):c.9658G>A (p.Ala3220Thr)
|
rs760839647
|
0.00001
|
NM_001277115.2(DNAH11):c.9733A>G (p.Met3245Val)
|
rs1307575374
|
0.00001
|
NM_001277115.2(DNAH11):c.9745G>A (p.Asp3249Asn)
|
rs537824201
|
0.00001
|
NM_001277115.2(DNAH11):c.9839A>C (p.Glu3280Ala)
|
rs747943621
|
0.00001
|
NM_001277115.2(DNAH11):c.990C>T (p.Leu330=)
|
rs376448045
|
0.00001
|
NM_001277115.2(DNAH11):c.9921T>C (p.Tyr3307=)
|
rs369440793
|
0.00001
|
NM_001364171.2(ODAD1):c.1022T>A (p.Ile341Asn)
|
rs773411120
|
0.00001
|
NM_001364171.2(ODAD1):c.1061A>C (p.Glu354Ala)
|
rs1968511225
|
0.00001
|
NM_001364171.2(ODAD1):c.1118A>G (p.His373Arg)
|
rs780566776
|
0.00001
|
NM_001364171.2(ODAD1):c.1132C>G (p.Gln378Glu)
|
rs779181956
|
0.00001
|
NM_001364171.2(ODAD1):c.1166A>G (p.Lys389Arg)
|
rs199792051
|
0.00001
|
NM_001364171.2(ODAD1):c.1192G>A (p.Glu398Lys)
|
rs1462057746
|
0.00001
|
NM_001364171.2(ODAD1):c.1195G>T (p.Ala399Ser)
|
rs750212100
|
0.00001
|
NM_001364171.2(ODAD1):c.1229A>T (p.Lys410Met)
|
rs892746152
|
0.00001
|
NM_001364171.2(ODAD1):c.1237G>T (p.Ala413Ser)
|
rs760007535
|
0.00001
|
NM_001364171.2(ODAD1):c.1260C>G (p.Thr420=)
|
rs1968365123
|
0.00001
|
NM_001364171.2(ODAD1):c.1272C>T (p.Cys424=)
|
rs555664154
|
0.00001
|
NM_001364171.2(ODAD1):c.1451G>A (p.Ser484Asn)
|
rs765137896
|
0.00001
|
NM_001364171.2(ODAD1):c.1690G>A (p.Gly564Ser)
|
rs1449817807
|
0.00001
|
NM_001364171.2(ODAD1):c.170+1G>A
|
rs1326332740
|
0.00001
|
NM_001364171.2(ODAD1):c.1801G>A (p.Gly601Ser)
|
rs753419095
|
0.00001
|
NM_001364171.2(ODAD1):c.1844A>G (p.His615Arg)
|
rs550620006
|
0.00001
|
NM_001364171.2(ODAD1):c.184C>T (p.Arg62Cys)
|
rs372858425
|
0.00001
|
NM_001364171.2(ODAD1):c.1932C>G (p.Ser644Arg)
|
rs773108289
|
0.00001
|
NM_001364171.2(ODAD1):c.1975G>A (p.Gly659Arg)
|
rs929625985
|
0.00001
|
NM_001364171.2(ODAD1):c.2029G>A (p.Gly677Arg)
|
rs771734792
|
0.00001
|
NM_001364171.2(ODAD1):c.314C>T (p.Ala105Val)
|
rs1402875362
|
0.00001
|
NM_001364171.2(ODAD1):c.467A>G (p.Glu156Gly)
|
rs1281163225
|
0.00001
|
NM_001364171.2(ODAD1):c.482G>A (p.Arg161Lys)
|
rs1449020201
|
0.00001
|
NM_001364171.2(ODAD1):c.521C>T (p.Ala174Val)
|
rs868114984
|
0.00001
|
NM_001364171.2(ODAD1):c.608A>C (p.His203Pro)
|
rs1569006344
|
0.00001
|
NM_001364171.2(ODAD1):c.667G>A (p.Glu223Lys)
|
rs773119584
|
0.00001
|
NM_001364171.2(ODAD1):c.685A>G (p.Met229Val)
|
rs776279484
|
0.00001
|
NM_001364171.2(ODAD1):c.698G>A (p.Arg233Gln)
|
rs199960441
|
0.00001
|
NM_001364171.2(ODAD1):c.704G>A (p.Arg235His)
|
rs372835806
|
0.00001
|
NM_001364171.2(ODAD1):c.706G>A (p.Ala236Thr)
|
rs192848164
|
0.00001
|
NM_001364171.2(ODAD1):c.741G>A (p.Ala247=)
|
rs771518813
|
0.00001
|
NM_001364171.2(ODAD1):c.822T>C (p.Asp274=)
|
rs767173437
|
0.00001
|
NM_001364171.2(ODAD1):c.936C>T (p.Ser312=)
|
rs769701772
|
0.00001
|
NM_001369.3(DNAH5):c.10044C>T (p.Pro3348=)
|
rs369902800
|
0.00001
|
NM_001369.3(DNAH5):c.10186G>A (p.Ala3396Thr)
|
rs1751970470
|
0.00001
|
NM_001369.3(DNAH5):c.10226G>C (p.Trp3409Ser)
|
rs755407407
|
0.00001
|
NM_001369.3(DNAH5):c.1028A>G (p.Asp343Gly)
|
rs778204627
|
0.00001
|
NM_001369.3(DNAH5):c.10415A>G (p.Lys3472Arg)
|
rs1057517890
|
0.00001
|
NM_001369.3(DNAH5):c.10441C>T (p.Arg3481Ter)
|
rs886039500
|
0.00001
|
NM_001369.3(DNAH5):c.10644G>A (p.Lys3548=)
|
rs2126701753
|
0.00001
|
NM_001369.3(DNAH5):c.10782C>T (p.Val3594=)
|
rs2126700829
|
0.00001
|
NM_001369.3(DNAH5):c.10878G>A (p.Thr3626=)
|
rs188428209
|
0.00001
|
NM_001369.3(DNAH5):c.10992G>A (p.Leu3664=)
|
rs766709160
|
0.00001
|
NM_001369.3(DNAH5):c.11029-2A>T
|
rs369312501
|
0.00001
|
NM_001369.3(DNAH5):c.11038G>T (p.Gly3680Cys)
|
rs777140914
|
0.00001
|
NM_001369.3(DNAH5):c.11128C>T (p.Arg3710Cys)
|
rs750661309
|
0.00001
|
NM_001369.3(DNAH5):c.11298C>T (p.Tyr3766=)
|
rs757118886
|
0.00001
|
NM_001369.3(DNAH5):c.11333A>G (p.Asp3778Gly)
|
rs771759145
|
0.00001
|
NM_001369.3(DNAH5):c.11349C>T (p.Val3783=)
|
rs774415631
|
0.00001
|
NM_001369.3(DNAH5):c.11601G>A (p.Arg3867=)
|
rs535536722
|
0.00001
|
NM_001369.3(DNAH5):c.1160A>G (p.Tyr387Cys)
|
rs1561565393
|
0.00001
|
NM_001369.3(DNAH5):c.11625G>T (p.Met3875Ile)
|
rs762188606
|
0.00001
|
NM_001369.3(DNAH5):c.11631C>T (p.Tyr3877=)
|
rs776957889
|
0.00001
|
NM_001369.3(DNAH5):c.11694G>T (p.Leu3898Phe)
|
rs200798994
|
0.00001
|
NM_001369.3(DNAH5):c.116A>G (p.Tyr39Cys)
|
rs1469239990
|
0.00001
|
NM_001369.3(DNAH5):c.11785G>A (p.Ala3929Thr)
|
rs1167911121
|
0.00001
|
NM_001369.3(DNAH5):c.12223A>G (p.Met4075Val)
|
rs1423192314
|
0.00001
|
NM_001369.3(DNAH5):c.12250C>T (p.Arg4084Trp)
|
rs752895938
|
0.00001
|
NM_001369.3(DNAH5):c.12275C>T (p.Ala4092Val)
|
rs1025759175
|
0.00001
|
NM_001369.3(DNAH5):c.12285A>T (p.Gly4095=)
|
rs774115728
|
0.00001
|
NM_001369.3(DNAH5):c.12426C>T (p.Leu4142=)
|
rs543738890
|
0.00001
|
NM_001369.3(DNAH5):c.12502G>A (p.Val4168Ile)
|
rs747409181
|
0.00001
|
NM_001369.3(DNAH5):c.12630C>T (p.Tyr4210=)
|
rs766099303
|
0.00001
|
NM_001369.3(DNAH5):c.12645G>A (p.Ala4215=)
|
rs776552880
|
0.00001
|
NM_001369.3(DNAH5):c.12837A>G (p.Pro4279=)
|
rs1472495875
|
0.00001
|
NM_001369.3(DNAH5):c.12880A>G (p.Thr4294Ala)
|
rs765649176
|
0.00001
|
NM_001369.3(DNAH5):c.12937G>C (p.Val4313Leu)
|
rs769666008
|
0.00001
|
NM_001369.3(DNAH5):c.12975G>C (p.Gln4325His)
|
rs780181944
|
0.00001
|
NM_001369.3(DNAH5):c.1299A>C (p.Leu433=)
|
rs767772562
|
0.00001
|
NM_001369.3(DNAH5):c.13015A>C (p.Ile4339Leu)
|
rs560535018
|
0.00001
|
NM_001369.3(DNAH5):c.13023C>G (p.Pro4341=)
|
rs762564245
|
0.00001
|
NM_001369.3(DNAH5):c.13055G>A (p.Arg4352Gln)
|
rs376585054
|
0.00001
|
NM_001369.3(DNAH5):c.13112A>G (p.Tyr4371Cys)
|
rs886142477
|
0.00001
|
NM_001369.3(DNAH5):c.13194C>T (p.Asp4398=)
|
rs769150763
|
0.00001
|
NM_001369.3(DNAH5):c.13199T>C (p.Met4400Thr)
|
rs1432614095
|
0.00001
|
NM_001369.3(DNAH5):c.13223G>A (p.Arg4408His)
|
rs202034094
|
0.00001
|
NM_001369.3(DNAH5):c.13265T>C (p.Ile4422Thr)
|
rs763286954
|
0.00001
|
NM_001369.3(DNAH5):c.13338+1G>C
|
rs1219958424
|
0.00001
|
NM_001369.3(DNAH5):c.13385T>C (p.Ile4462Thr)
|
rs750565633
|
0.00001
|
NM_001369.3(DNAH5):c.13412G>T (p.Trp4471Leu)
|
rs761077963
|
0.00001
|
NM_001369.3(DNAH5):c.13519G>C (p.Ala4507Pro)
|
rs936214274
|
0.00001
|
NM_001369.3(DNAH5):c.13540T>C (p.Cys4514Arg)
|
rs916403814
|
0.00001
|
NM_001369.3(DNAH5):c.13570G>A (p.Asp4524Asn)
|
rs199916139
|
0.00001
|
NM_001369.3(DNAH5):c.13632C>T (p.Gly4544=)
|
rs780159177
|
0.00001
|
NM_001369.3(DNAH5):c.13719C>T (p.Asn4573=)
|
rs747291233
|
0.00001
|
NM_001369.3(DNAH5):c.13798G>A (p.Ala4600Thr)
|
rs774279588
|
0.00001
|
NM_001369.3(DNAH5):c.13840C>T (p.Leu4614Phe)
|
rs1279008897
|
0.00001
|
NM_001369.3(DNAH5):c.13863T>C (p.Cys4621=)
|
rs1254287410
|
0.00001
|
NM_001369.3(DNAH5):c.1420G>A (p.Glu474Lys)
|
rs886060012
|
0.00001
|
NM_001369.3(DNAH5):c.1465A>G (p.Thr489Ala)
|
rs779916415
|
0.00001
|
NM_001369.3(DNAH5):c.1502T>C (p.Ile501Thr)
|
rs746819760
|
0.00001
|
NM_001369.3(DNAH5):c.1584G>A (p.Gln528=)
|
rs769824207
|
0.00001
|
NM_001369.3(DNAH5):c.1642C>T (p.His548Tyr)
|
rs778487272
|
0.00001
|
NM_001369.3(DNAH5):c.1678G>A (p.Ala560Thr)
|
rs1395945103
|
0.00001
|
NM_001369.3(DNAH5):c.1717A>C (p.Lys573Gln)
|
rs776722304
|
0.00001
|
NM_001369.3(DNAH5):c.1756G>T (p.Asp586Tyr)
|
rs1250105400
|
0.00001
|
NM_001369.3(DNAH5):c.1837G>A (p.Asp613Asn)
|
rs141072655
|
0.00001
|
NM_001369.3(DNAH5):c.1855A>G (p.Asn619Asp)
|
rs754051313
|
0.00001
|
NM_001369.3(DNAH5):c.1856A>C (p.Asn619Thr)
|
rs764337568
|
0.00001
|
NM_001369.3(DNAH5):c.193-6T>G
|
rs762313659
|
0.00001
|
NM_001369.3(DNAH5):c.193A>T (p.Ile65Phe)
|
rs776039504
|
0.00001
|
NM_001369.3(DNAH5):c.2022G>C (p.Glu674Asp)
|
rs202042110
|
0.00001
|
NM_001369.3(DNAH5):c.2052+1G>T
|
rs1774569455
|
0.00001
|
NM_001369.3(DNAH5):c.220G>A (p.Val74Ile)
|
rs1778072400
|
0.00001
|
NM_001369.3(DNAH5):c.2223A>G (p.Lys741=)
|
rs371817187
|
0.00001
|
NM_001369.3(DNAH5):c.2224C>T (p.Arg742Ter)
|
rs776686983
|
0.00001
|
NM_001369.3(DNAH5):c.2254A>G (p.Met752Val)
|
rs745899447
|
0.00001
|
NM_001369.3(DNAH5):c.2456G>C (p.Arg819Thr)
|
rs200486203
|
0.00001
|
NM_001369.3(DNAH5):c.2461A>G (p.Asn821Asp)
|
rs138346465
|
0.00001
|
NM_001369.3(DNAH5):c.2479C>T (p.Arg827Cys)
|
rs760986984
|
0.00001
|
NM_001369.3(DNAH5):c.2488G>A (p.Ala830Thr)
|
rs372432790
|
0.00001
|
NM_001369.3(DNAH5):c.2499A>G (p.Glu833=)
|
rs369887785
|
0.00001
|
NM_001369.3(DNAH5):c.252T>G (p.Tyr84Ter)
|
rs754982008
|
0.00001
|
NM_001369.3(DNAH5):c.257A>G (p.Asp86Gly)
|
rs147441805
|
0.00001
|
NM_001369.3(DNAH5):c.265G>A (p.Glu89Lys)
|
rs1346326284
|
0.00001
|
NM_001369.3(DNAH5):c.2779T>C (p.Ser927Pro)
|
rs752452948
|
0.00001
|
NM_001369.3(DNAH5):c.277G>A (p.Gly93Arg)
|
rs1428534050
|
0.00001
|
NM_001369.3(DNAH5):c.2817G>A (p.Thr939=)
|
rs1338338371
|
0.00001
|
NM_001369.3(DNAH5):c.2869G>A (p.Glu957Lys)
|
rs762848961
|
0.00001
|
NM_001369.3(DNAH5):c.2983+5T>C
|
rs1353417066
|
0.00001
|
NM_001369.3(DNAH5):c.2998T>G (p.Ser1000Ala)
|
rs931337262
|
0.00001
|
NM_001369.3(DNAH5):c.3005T>C (p.Met1002Thr)
|
rs759492235
|
0.00001
|
NM_001369.3(DNAH5):c.3031C>T (p.Arg1011Trp)
|
rs928800148
|
0.00001
|
NM_001369.3(DNAH5):c.3040G>A (p.Val1014Ile)
|
rs778469881
|
0.00001
|
NM_001369.3(DNAH5):c.3043A>G (p.Thr1015Ala)
|
rs756780275
|
0.00001
|
NM_001369.3(DNAH5):c.3060C>T (p.Asn1020=)
|
rs777905258
|
0.00001
|
NM_001369.3(DNAH5):c.3263A>G (p.Asp1088Gly)
|
rs199885833
|
0.00001
|
NM_001369.3(DNAH5):c.3322A>G (p.Lys1108Glu)
|
rs781737643
|
0.00001
|
NM_001369.3(DNAH5):c.3357A>G (p.Leu1119=)
|
rs780565363
|
0.00001
|
NM_001369.3(DNAH5):c.3446A>G (p.Gln1149Arg)
|
rs780846691
|
0.00001
|
NM_001369.3(DNAH5):c.3487A>C (p.Ser1163Arg)
|
rs774760728
|
0.00001
|
NM_001369.3(DNAH5):c.3559C>G (p.Pro1187Ala)
|
rs753687076
|
0.00001
|
NM_001369.3(DNAH5):c.3560C>G (p.Pro1187Arg)
|
rs1415125422
|
0.00001
|
NM_001369.3(DNAH5):c.3614C>T (p.Ala1205Val)
|
rs755018988
|
0.00001
|
NM_001369.3(DNAH5):c.3865C>T (p.Leu1289Phe)
|
rs2546988627
|
0.00001
|
NM_001369.3(DNAH5):c.3906G>A (p.Leu1302=)
|
rs756702210
|
0.00001
|
NM_001369.3(DNAH5):c.3962T>G (p.Val1321Gly)
|
rs1189762101
|
0.00001
|
NM_001369.3(DNAH5):c.4037A>T (p.Tyr1346Phe)
|
rs1000251156
|
0.00001
|
NM_001369.3(DNAH5):c.4145A>G (p.Tyr1382Cys)
|
rs183833827
|
0.00001
|
NM_001369.3(DNAH5):c.4178G>T (p.Gly1393Val)
|
rs1314723762
|
0.00001
|
NM_001369.3(DNAH5):c.4193A>G (p.Gln1398Arg)
|
rs200963174
|
0.00001
|
NM_001369.3(DNAH5):c.4246T>C (p.Tyr1416His)
|
rs1261127875
|
0.00001
|
NM_001369.3(DNAH5):c.4269A>G (p.Ile1423Met)
|
rs779020258
|
0.00001
|
NM_001369.3(DNAH5):c.4293T>C (p.Asp1431=)
|
rs373649273
|
0.00001
|
NM_001369.3(DNAH5):c.4309G>A (p.Val1437Met)
|
rs1390327836
|
0.00001
|
NM_001369.3(DNAH5):c.4348C>T (p.Gln1450Ter)
|
rs771663107
|
0.00001
|
NM_001369.3(DNAH5):c.4542T>G (p.Phe1514Leu)
|
rs761704400
|
0.00001
|
NM_001369.3(DNAH5):c.4589A>G (p.Glu1530Gly)
|
rs1445337310
|
0.00001
|
NM_001369.3(DNAH5):c.4591A>T (p.Ile1531Leu)
|
rs781466090
|
0.00001
|
NM_001369.3(DNAH5):c.4637A>G (p.Gln1546Arg)
|
rs1048565408
|
0.00001
|
NM_001369.3(DNAH5):c.4703G>A (p.Arg1568His)
|
rs200994058
|
0.00001
|
NM_001369.3(DNAH5):c.4737G>A (p.Ser1579=)
|
rs938971019
|
0.00001
|
NM_001369.3(DNAH5):c.4861A>G (p.Ile1621Val)
|
rs754133112
|
0.00001
|
NM_001369.3(DNAH5):c.5006C>T (p.Ala1669Val)
|
rs1407265486
|
0.00001
|
NM_001369.3(DNAH5):c.5110A>G (p.Thr1704Ala)
|
rs766353067
|
0.00001
|
NM_001369.3(DNAH5):c.5114+1G>C
|
rs878854457
|
0.00001
|
NM_001369.3(DNAH5):c.5212A>G (p.Ile1738Val)
|
rs1765756588
|
0.00001
|
NM_001369.3(DNAH5):c.5343A>G (p.Ala1781=)
|
rs1468241760
|
0.00001
|
NM_001369.3(DNAH5):c.5436A>G (p.Gln1812=)
|
rs746150570
|
0.00001
|
NM_001369.3(DNAH5):c.5518C>T (p.Arg1840Trp)
|
rs760640325
|
0.00001
|
NM_001369.3(DNAH5):c.5539A>G (p.Arg1847Gly)
|
rs774073166
|
0.00001
|
NM_001369.3(DNAH5):c.5583G>T (p.Gln1861His)
|
rs756945139
|
0.00001
|
NM_001369.3(DNAH5):c.5603A>G (p.Asn1868Ser)
|
rs945907926
|
0.00001
|
NM_001369.3(DNAH5):c.5660A>G (p.Glu1887Gly)
|
rs753473700
|
0.00001
|
NM_001369.3(DNAH5):c.5705A>G (p.Asp1902Gly)
|
rs776748041
|
0.00001
|
NM_001369.3(DNAH5):c.5745G>T (p.Glu1915Asp)
|
rs775769384
|
0.00001
|
NM_001369.3(DNAH5):c.5830A>C (p.Asn1944His)
|
rs906638785
|
0.00001
|
NM_001369.3(DNAH5):c.5883-1G>A
|
rs1195745037
|
0.00001
|
NM_001369.3(DNAH5):c.5885G>A (p.Cys1962Tyr)
|
rs1763565713
|
0.00001
|
NM_001369.3(DNAH5):c.5894C>T (p.Thr1965Met)
|
rs773421135
|
0.00001
|
NM_001369.3(DNAH5):c.594G>A (p.Glu198=)
|
rs769718109
|
0.00001
|
NM_001369.3(DNAH5):c.5992G>A (p.Gly1998Arg)
|
rs1298790222
|
0.00001
|
NM_001369.3(DNAH5):c.6000C>T (p.Tyr2000=)
|
rs773208371
|
0.00001
|
NM_001369.3(DNAH5):c.608T>C (p.Leu203Pro)
|
rs1435322116
|
0.00001
|
NM_001369.3(DNAH5):c.6157C>G (p.Leu2053Val)
|
rs1207803525
|
0.00001
|
NM_001369.3(DNAH5):c.6162A>C (p.Thr2054=)
|
rs913362638
|
0.00001
|
NM_001369.3(DNAH5):c.6185C>A (p.Ser2062Tyr)
|
rs1004071220
|
0.00001
|
NM_001369.3(DNAH5):c.6198T>C (p.Thr2066=)
|
rs1763431235
|
0.00001
|
NM_001369.3(DNAH5):c.6265G>A (p.Gly2089Arg)
|
rs767274970
|
0.00001
|
NM_001369.3(DNAH5):c.6268C>T (p.Arg2090Trp)
|
rs774191944
|
0.00001
|
NM_001369.3(DNAH5):c.646A>G (p.Ser216Gly)
|
rs757602565
|
0.00001
|
NM_001369.3(DNAH5):c.6498A>G (p.Gly2166=)
|
rs764201218
|
0.00001
|
NM_001369.3(DNAH5):c.6553C>T (p.Leu2185=)
|
rs1254706379
|
0.00001
|
NM_001369.3(DNAH5):c.6661G>A (p.Glu2221Lys)
|
rs148526079
|
0.00001
|
NM_001369.3(DNAH5):c.6786G>T (p.Gly2262=)
|
rs749772293
|
0.00001
|
NM_001369.3(DNAH5):c.6788C>G (p.Pro2263Arg)
|
rs146976503
|
0.00001
|
NM_001369.3(DNAH5):c.6796G>T (p.Ala2266Ser)
|
rs1023849945
|
0.00001
|
NM_001369.3(DNAH5):c.6869G>C (p.Arg2290Thr)
|
rs1427447931
|
0.00001
|
NM_001369.3(DNAH5):c.6898C>T (p.Gln2300Ter)
|
rs1157521172
|
0.00001
|
NM_001369.3(DNAH5):c.7088A>G (p.Asn2363Ser)
|
rs910750925
|
0.00001
|
NM_001369.3(DNAH5):c.7092T>C (p.Gly2364=)
|
rs774617981
|
0.00001
|
NM_001369.3(DNAH5):c.7106T>C (p.Met2369Thr)
|
rs144867885
|
0.00001
|
NM_001369.3(DNAH5):c.7109C>T (p.Ala2370Val)
|
rs776056472
|
0.00001
|
NM_001369.3(DNAH5):c.7151A>G (p.Asn2384Ser)
|
rs777962194
|
0.00001
|
NM_001369.3(DNAH5):c.7273C>T (p.Arg2425Cys)
|
rs376707969
|
0.00001
|
NM_001369.3(DNAH5):c.7299A>G (p.Pro2433=)
|
rs747463097
|
0.00001
|
NM_001369.3(DNAH5):c.7406A>C (p.Lys2469Thr)
|
rs1760732904
|
0.00001
|
NM_001369.3(DNAH5):c.7515G>A (p.Glu2505=)
|
rs1032671138
|
0.00001
|
NM_001369.3(DNAH5):c.7557G>A (p.Pro2519=)
|
rs1277087280
|
0.00001
|
NM_001369.3(DNAH5):c.7571C>T (p.Pro2524Leu)
|
rs369824303
|
0.00001
|
NM_001369.3(DNAH5):c.7631C>T (p.Thr2544Met)
|
rs766316984
|
0.00001
|
NM_001369.3(DNAH5):c.7632G>A (p.Thr2544=)
|
rs574355717
|
0.00001
|
NM_001369.3(DNAH5):c.7796T>C (p.Ile2599Thr)
|
rs2546793988
|
0.00001
|
NM_001369.3(DNAH5):c.7834C>T (p.His2612Tyr)
|
rs1211787821
|
0.00001
|
NM_001369.3(DNAH5):c.7924A>G (p.Thr2642Ala)
|
rs375094026
|
0.00001
|
NM_001369.3(DNAH5):c.7929A>G (p.Thr2643=)
|
rs755546086
|
0.00001
|
NM_001369.3(DNAH5):c.792A>G (p.Thr264=)
|
rs1358293206
|
0.00001
|
NM_001369.3(DNAH5):c.7940C>T (p.Pro2647Leu)
|
rs756865161
|
0.00001
|
NM_001369.3(DNAH5):c.7944G>A (p.Ala2648=)
|
rs942441992
|
0.00001
|
NM_001369.3(DNAH5):c.8010+3A>G
|
rs748171209
|
0.00001
|
NM_001369.3(DNAH5):c.8029C>T (p.Arg2677Ter)
|
rs775946081
|
0.00001
|
NM_001369.3(DNAH5):c.8030G>A (p.Arg2677Gln)
|
rs886043448
|
0.00001
|
NM_001369.3(DNAH5):c.8091C>T (p.Ile2697=)
|
rs754038916
|
0.00001
|
NM_001369.3(DNAH5):c.8168A>G (p.Gln2723Arg)
|
rs201935354
|
0.00001
|
NM_001369.3(DNAH5):c.8302C>A (p.Pro2768Thr)
|
rs749258820
|
0.00001
|
NM_001369.3(DNAH5):c.8314C>T (p.Arg2772Ter)
|
rs781469274
|
0.00001
|
NM_001369.3(DNAH5):c.832del (p.Ala278fs)
|
rs727502977
|
0.00001
|
NM_001369.3(DNAH5):c.8353C>T (p.Pro2785Ser)
|
rs1167219863
|
0.00001
|
NM_001369.3(DNAH5):c.8383C>T (p.Arg2795Ter)
|
rs560398270
|
0.00001
|
NM_001369.3(DNAH5):c.8396G>A (p.Arg2799Gln)
|
rs1182948401
|
0.00001
|
NM_001369.3(DNAH5):c.8440_8447del (p.Lys2813_Glu2814insTer)
|
rs755136231
|
0.00001
|
NM_001369.3(DNAH5):c.846G>A (p.Gly282=)
|
rs748702437
|
0.00001
|
NM_001369.3(DNAH5):c.8504C>T (p.Thr2835Ile)
|
rs1340396077
|
0.00001
|
NM_001369.3(DNAH5):c.8505A>G (p.Thr2835=)
|
rs765999228
|
0.00001
|
NM_001369.3(DNAH5):c.8537C>T (p.Ala2846Val)
|
rs200457834
|
0.00001
|
NM_001369.3(DNAH5):c.8686A>G (p.Ile2896Val)
|
rs781484224
|
0.00001
|
NM_001369.3(DNAH5):c.8780A>G (p.Asp2927Gly)
|
rs1426649944
|
0.00001
|
NM_001369.3(DNAH5):c.8803A>G (p.Met2935Val)
|
rs929329118
|
0.00001
|
NM_001369.3(DNAH5):c.8827C>T (p.Arg2943Cys)
|
rs758324905
|
0.00001
|
NM_001369.3(DNAH5):c.8831T>C (p.Val2944Ala)
|
rs540836503
|
0.00001
|
NM_001369.3(DNAH5):c.8840C>T (p.Thr2947Ile)
|
rs756216163
|
0.00001
|
NM_001369.3(DNAH5):c.8842C>T (p.Pro2948Ser)
|
rs374634044
|
0.00001
|
NM_001369.3(DNAH5):c.8865C>T (p.Val2955=)
|
rs564462253
|
0.00001
|
NM_001369.3(DNAH5):c.8906C>G (p.Ala2969Gly)
|
rs1755004469
|
0.00001
|
NM_001369.3(DNAH5):c.896A>G (p.Tyr299Cys)
|
rs1324752231
|
0.00001
|
NM_001369.3(DNAH5):c.9022G>A (p.Gly3008Arg)
|
rs1348742926
|
0.00001
|
NM_001369.3(DNAH5):c.9213C>T (p.His3071=)
|
rs563907105
|
0.00001
|
NM_001369.3(DNAH5):c.921G>A (p.Pro307=)
|
rs1247275415
|
0.00001
|
NM_001369.3(DNAH5):c.9266C>T (p.Ser3089Leu)
|
rs759831156
|
0.00001
|
NM_001369.3(DNAH5):c.928A>C (p.Lys310Gln)
|
rs1776986431
|
0.00001
|
NM_001369.3(DNAH5):c.9301A>C (p.Lys3101Gln)
|
rs371436275
|
0.00001
|
NM_001369.3(DNAH5):c.9317T>C (p.Ile3106Thr)
|
rs778312386
|
0.00001
|
NM_001369.3(DNAH5):c.9349T>C (p.Trp3117Arg)
|
rs778479522
|
0.00001
|
NM_001369.3(DNAH5):c.9502C>T (p.Arg3168Ter)
|
rs863224504
|
0.00001
|
NM_001369.3(DNAH5):c.950C>T (p.Ala317Val)
|
rs199691556
|
0.00001
|
NM_001369.3(DNAH5):c.9544A>C (p.Ile3182Leu)
|
rs951528702
|
0.00001
|
NM_001369.3(DNAH5):c.9575A>G (p.Lys3192Arg)
|
rs771825187
|
0.00001
|
NM_001369.3(DNAH5):c.9649G>A (p.Val3217Ile)
|
rs1753033779
|
0.00001
|
NM_001369.3(DNAH5):c.9678G>A (p.Ala3226=)
|
rs547729937
|
0.00001
|
NM_001369.3(DNAH5):c.9685A>G (p.Lys3229Glu)
|
rs561380021
|
0.00001
|
NM_001369.3(DNAH5):c.9760A>C (p.Lys3254Gln)
|
rs765104542
|
0.00001
|
NM_001369.3(DNAH5):c.9772G>A (p.Glu3258Lys)
|
rs769058578
|
0.00001
|
NM_001369.3(DNAH5):c.9857C>T (p.Ala3286Val)
|
rs746602106
|
0.00001
|
NM_001369.3(DNAH5):c.9878A>C (p.Glu3293Ala)
|
rs542064804
|
0.00001
|
NM_001369.3(DNAH5):c.991G>T (p.Asp331Tyr)
|
rs950364119
|
0.00001
|
NM_001369.3(DNAH5):c.9932C>T (p.Thr3311Met)
|
rs1411648234
|
0.00001
|
NM_001369.3(DNAH5):c.9940C>T (p.Arg3314Cys)
|
rs755923477
|
0.00001
|
NM_001369.3(DNAH5):c.9962G>A (p.Arg3321Gln)
|
rs750927507
|
0.00001
|
NM_001369.3(DNAH5):c.9987G>A (p.Leu3329=)
|
rs372955295
|
0.00001
|
NM_001369.3(DNAH5):c.9999A>G (p.Lys3333=)
|
rs1038607014
|
0.00001
|
NM_003114.5(SPAG1):c.1042G>A (p.Glu348Lys)
|
rs1060503106
|
0.00001
|
NM_003114.5(SPAG1):c.1083C>T (p.Gly361=)
|
rs752424284
|
0.00001
|
NM_003114.5(SPAG1):c.1180G>A (p.Glu394Lys)
|
rs866362675
|
0.00001
|
NM_003114.5(SPAG1):c.1181A>G (p.Glu394Gly)
|
rs1237250330
|
0.00001
|
NM_003114.5(SPAG1):c.1189A>C (p.Lys397Gln)
|
rs1246342969
|
0.00001
|
NM_003114.5(SPAG1):c.1193G>A (p.Arg398Gln)
|
rs772098225
|
0.00001
|
NM_003114.5(SPAG1):c.1201A>G (p.Arg401Gly)
|
rs1448300734
|
0.00001
|
NM_003114.5(SPAG1):c.1314C>T (p.Gly438=)
|
rs764792306
|
0.00001
|
NM_003114.5(SPAG1):c.1347G>A (p.Lys449=)
|
rs1410946276
|
0.00001
|
NM_003114.5(SPAG1):c.141A>T (p.Arg47Ser)
|
rs529265811
|
0.00001
|
NM_003114.5(SPAG1):c.1512T>G (p.Ser504Arg)
|
rs768753920
|
0.00001
|
NM_003114.5(SPAG1):c.1561A>G (p.Met521Val)
|
rs745418167
|
0.00001
|
NM_003114.5(SPAG1):c.1924G>A (p.Ala642Thr)
|
rs773145801
|
0.00001
|
NM_003114.5(SPAG1):c.2211C>T (p.Leu737=)
|
rs762424146
|
0.00001
|
NM_003114.5(SPAG1):c.2314G>T (p.Ala772Ser)
|
rs757463105
|
0.00001
|
NM_003114.5(SPAG1):c.2385T>C (p.Pro795=)
|
rs909523206
|
0.00001
|
NM_003114.5(SPAG1):c.2396C>T (p.Pro799Leu)
|
rs767385731
|
0.00001
|
NM_003114.5(SPAG1):c.2560A>T (p.Ile854Phe)
|
rs779684298
|
0.00001
|
NM_003114.5(SPAG1):c.2623T>C (p.Tyr875His)
|
rs1161354171
|
0.00001
|
NM_003114.5(SPAG1):c.2661A>G (p.Thr887=)
|
rs773106106
|
0.00001
|
NM_003114.5(SPAG1):c.2666T>C (p.Ile889Thr)
|
rs920348320
|
0.00001
|
NM_003114.5(SPAG1):c.2771A>G (p.Tyr924Cys)
|
rs2489650678
|
0.00001
|
NM_003114.5(SPAG1):c.288T>C (p.Asp96=)
|
rs1220772934
|
0.00001
|
NM_003114.5(SPAG1):c.292G>T (p.Asp98Tyr)
|
rs1462272281
|
0.00001
|
NM_003114.5(SPAG1):c.543G>A (p.Thr181=)
|
rs1056605409
|
0.00001
|
NM_003114.5(SPAG1):c.662A>G (p.Asn221Ser)
|
rs918123832
|
0.00001
|
NM_003611.3(OFD1):c.1205G>A (p.Arg402His)
|
rs1283023888
|
0.00001
|
NM_003611.3(OFD1):c.135T>G (p.Ile45Met)
|
rs756179851
|
0.00001
|
NM_003611.3(OFD1):c.140A>G (p.Glu47Gly)
|
rs764168915
|
0.00001
|
NM_003611.3(OFD1):c.1500C>T (p.Phe500=)
|
rs775685381
|
0.00001
|
NM_003611.3(OFD1):c.2061G>A (p.Pro687=)
|
rs757923355
|
0.00001
|
NM_003611.3(OFD1):c.2082G>C (p.Glu694Asp)
|
rs1336595000
|
0.00001
|
NM_003611.3(OFD1):c.2150T>C (p.Leu717Pro)
|
rs2047890512
|
0.00001
|
NM_003611.3(OFD1):c.2297G>T (p.Cys766Phe)
|
rs774888576
|
0.00001
|
NM_003611.3(OFD1):c.2525G>C (p.Gly842Ala)
|
rs201180146
|
0.00001
|
NM_003611.3(OFD1):c.2609A>G (p.Gln870Arg)
|
rs758641332
|
0.00001
|
NM_003611.3(OFD1):c.2672G>A (p.Arg891Lys)
|
rs769469366
|
0.00001
|
NM_003611.3(OFD1):c.2778G>T (p.Leu926=)
|
rs2518998297
|
0.00001
|
NM_003611.3(OFD1):c.2970G>A (p.Thr990=)
|
rs1602946302
|
0.00001
|
NM_003611.3(OFD1):c.313G>A (p.Val105Ile)
|
rs772018123
|
0.00001
|
NM_003611.3(OFD1):c.345T>G (p.Ile115Met)
|
rs751918276
|
0.00001
|
NM_003611.3(OFD1):c.432A>G (p.Leu144=)
|
rs759705433
|
0.00001
|
NM_003611.3(OFD1):c.485A>G (p.Gln162Arg)
|
rs1325832303
|
0.00001
|
NM_003611.3(OFD1):c.495G>C (p.Ser165=)
|
rs764608728
|
0.00001
|
NM_003611.3(OFD1):c.569G>A (p.Arg190His)
|
rs150560046
|
0.00001
|
NM_003611.3(OFD1):c.8C>A (p.Ala3Glu)
|
rs750315398
|
0.00001
|
NM_012144.4(DNAI1):c.1016G>T (p.Cys339Phe)
|
rs777922183
|
0.00001
|
NM_012144.4(DNAI1):c.1221C>T (p.Asn407=)
|
rs1368857115
|
0.00001
|
NM_012144.4(DNAI1):c.1368T>C (p.Ser456=)
|
rs1175634371
|
0.00001
|
NM_012144.4(DNAI1):c.1422T>C (p.Asp474=)
|
rs201345286
|
0.00001
|
NM_012144.4(DNAI1):c.1607A>G (p.Tyr536Cys)
|
rs144611423
|
0.00001
|
NM_012144.4(DNAI1):c.1684G>A (p.Asp562Asn)
|
rs1371519471
|
0.00001
|
NM_012144.4(DNAI1):c.1722C>T (p.Thr574=)
|
rs548602580
|
0.00001
|
NM_012144.4(DNAI1):c.1825A>G (p.Ile609Val)
|
rs727502978
|
0.00001
|
NM_012144.4(DNAI1):c.1941C>T (p.Gly647=)
|
rs1022057422
|
0.00001
|
NM_012144.4(DNAI1):c.2074G>C (p.Val692Leu)
|
rs1433242022
|
0.00001
|
NM_012144.4(DNAI1):c.282T>C (p.Ile94=)
|
rs374541022
|
0.00001
|
NM_012144.4(DNAI1):c.332T>G (p.Ile111Ser)
|
rs1399327107
|
0.00001
|
NM_012144.4(DNAI1):c.348T>A (p.Asp116Glu)
|
rs376585656
|
0.00001
|
NM_012144.4(DNAI1):c.45G>T (p.Lys15Asn)
|
rs547949645
|
0.00001
|
NM_012144.4(DNAI1):c.628G>C (p.Glu210Gln)
|
rs137937295
|
0.00001
|
NM_012144.4(DNAI1):c.676A>C (p.Asn226His)
|
rs769349211
|
0.00001
|
NM_012144.4(DNAI1):c.728A>C (p.Lys243Thr)
|
rs1824645344
|
0.00001
|
NM_012144.4(DNAI1):c.788T>C (p.Met263Thr)
|
rs1228318421
|
0.00001
|
NM_012144.4(DNAI1):c.914A>G (p.Tyr305Cys)
|
rs201653559
|
0.00001
|
NM_012144.4(DNAI1):c.938G>A (p.Arg313Gln)
|
rs1366103023
|
0.00001
|
NM_012472.6(DNAAF11):c.1027G>A (p.Val343Ile)
|
rs1451885715
|
0.00001
|
NM_012472.6(DNAAF11):c.1054C>G (p.Leu352Val)
|
rs1485257977
|
0.00001
|
NM_012472.6(DNAAF11):c.1059C>T (p.Val353=)
|
rs1381675903
|
0.00001
|
NM_012472.6(DNAAF11):c.1133T>C (p.Met378Thr)
|
rs760449498
|
0.00001
|
NM_012472.6(DNAAF11):c.122A>G (p.Lys41Arg)
|
rs182327254
|
0.00001
|
NM_012472.6(DNAAF11):c.130C>T (p.Arg44Trp)
|
rs189293241
|
0.00001
|
NM_012472.6(DNAAF11):c.145C>G (p.Leu49Val)
|
rs775099366
|
0.00001
|
NM_012472.6(DNAAF11):c.389A>G (p.His130Arg)
|
rs777011841
|
0.00001
|
NM_012472.6(DNAAF11):c.49G>A (p.Asp17Asn)
|
rs911389891
|
0.00001
|
NM_012472.6(DNAAF11):c.645T>C (p.Asn215=)
|
rs774194116
|
0.00001
|
NM_012472.6(DNAAF11):c.681A>G (p.Leu227=)
|
rs1200377340
|
0.00001
|
NM_012472.6(DNAAF11):c.738_745dup (p.Phe249fs)
|
rs771548650
|
0.00001
|
NM_012472.6(DNAAF11):c.940G>A (p.Glu314Lys)
|
rs957674260
|
0.00001
|
NM_016616.5(NME8):c.1061C>T (p.Ser354Leu)
|
rs144650767
|
0.00001
|
NM_016616.5(NME8):c.1092A>T (p.Glu364Asp)
|
rs1376113644
|
0.00001
|
NM_016616.5(NME8):c.1173C>T (p.Asp391=)
|
rs769139557
|
0.00001
|
NM_016616.5(NME8):c.1280C>T (p.Pro427Leu)
|
rs1480963535
|
0.00001
|
NM_016616.5(NME8):c.1289A>G (p.Gln430Arg)
|
rs779494301
|
0.00001
|
NM_016616.5(NME8):c.1319C>A (p.Ala440Asp)
|
rs1342251170
|
0.00001
|
NM_016616.5(NME8):c.1556T>C (p.Met519Thr)
|
rs765328516
|
0.00001
|
NM_016616.5(NME8):c.1601G>A (p.Arg534Gln)
|
rs186068152
|
0.00001
|
NM_016616.5(NME8):c.1621C>T (p.Pro541Ser)
|
rs1224442590
|
0.00001
|
NM_016616.5(NME8):c.169A>G (p.Asn57Asp)
|
rs759876007
|
0.00001
|
NM_016616.5(NME8):c.171C>T (p.Asn57=)
|
rs180763598
|
0.00001
|
NM_016616.5(NME8):c.286G>A (p.Glu96Lys)
|
rs368696812
|
0.00001
|
NM_016616.5(NME8):c.344A>G (p.Asp115Gly)
|
rs372631973
|
0.00001
|
NM_016616.5(NME8):c.365C>G (p.Ala122Gly)
|
rs968749440
|
0.00001
|
NM_016616.5(NME8):c.596A>G (p.Asn199Ser)
|
rs1420353131
|
0.00001
|
NM_016616.5(NME8):c.668A>G (p.Tyr223Cys)
|
rs200582084
|
0.00001
|
NM_016616.5(NME8):c.706C>T (p.Pro236Ser)
|
rs747458162
|
0.00001
|
NM_016616.5(NME8):c.767C>A (p.Pro256His)
|
rs781400657
|
0.00001
|
NM_016616.5(NME8):c.82G>T (p.Gly28Cys)
|
rs780172047
|
0.00001
|
NM_016616.5(NME8):c.856C>G (p.Leu286Val)
|
rs202155606
|
0.00001
|
NM_017802.4(DNAAF5):c.1015C>T (p.Pro339Ser)
|
rs1186754208
|
0.00001
|
NM_017802.4(DNAAF5):c.1042G>A (p.Gly348Ser)
|
rs1782423731
|
0.00001
|
NM_017802.4(DNAAF5):c.1048C>T (p.Arg350Trp)
|
rs377089514
|
0.00001
|
NM_017802.4(DNAAF5):c.1080C>T (p.Ile360=)
|
rs566588440
|
0.00001
|
NM_017802.4(DNAAF5):c.1099G>A (p.Asp367Asn)
|
rs538557115
|
0.00001
|
NM_017802.4(DNAAF5):c.1108G>A (p.Asp370Asn)
|
rs200573334
|
0.00001
|
NM_017802.4(DNAAF5):c.1128A>C (p.Arg376=)
|
rs753803162
|
0.00001
|
NM_017802.4(DNAAF5):c.1253A>T (p.Gln418Leu)
|
rs753199603
|
0.00001
|
NM_017802.4(DNAAF5):c.1328C>T (p.Thr443Met)
|
rs777008597
|
0.00001
|
NM_017802.4(DNAAF5):c.133G>A (p.Gly45Ser)
|
rs1175402641
|
0.00001
|
NM_017802.4(DNAAF5):c.1342C>T (p.Pro448Ser)
|
rs751643186
|
0.00001
|
NM_017802.4(DNAAF5):c.141G>T (p.Arg47=)
|
rs1188978283
|
0.00001
|
NM_017802.4(DNAAF5):c.1549C>T (p.Leu517=)
|
rs1302246575
|
0.00001
|
NM_017802.4(DNAAF5):c.1563C>T (p.Asp521=)
|
rs754692782
|
0.00001
|
NM_017802.4(DNAAF5):c.1599C>T (p.Thr533=)
|
rs771906023
|
0.00001
|
NM_017802.4(DNAAF5):c.1610A>G (p.Asp537Gly)
|
rs926185028
|
0.00001
|
NM_017802.4(DNAAF5):c.1615-2A>G
|
rs371542660
|
0.00001
|
NM_017802.4(DNAAF5):c.172G>A (p.Glu58Lys)
|
rs1781320505
|
0.00001
|
NM_017802.4(DNAAF5):c.1745C>T (p.Pro582Leu)
|
rs922202805
|
0.00001
|
NM_017802.4(DNAAF5):c.17T>C (p.Val6Ala)
|
rs1457911742
|
0.00001
|
NM_017802.4(DNAAF5):c.1802C>G (p.Ala601Gly)
|
rs745537484
|
0.00001
|
NM_017802.4(DNAAF5):c.1865G>A (p.Arg622His)
|
rs779833002
|
0.00001
|
NM_017802.4(DNAAF5):c.19G>A (p.Ala7Thr)
|
rs1457149692
|
0.00001
|
NM_017802.4(DNAAF5):c.2048C>T (p.Ala683Val)
|
rs1159798626
|
0.00001
|
NM_017802.4(DNAAF5):c.2065G>A (p.Val689Ile)
|
rs772441913
|
0.00001
|
NM_017802.4(DNAAF5):c.2089G>T (p.Asp697Tyr)
|
rs771333841
|
0.00001
|
NM_017802.4(DNAAF5):c.213C>T (p.Gly71=)
|
rs957022559
|
0.00001
|
NM_017802.4(DNAAF5):c.2152C>T (p.Arg718Ter)
|
rs1778714650
|
0.00001
|
NM_017802.4(DNAAF5):c.2164T>G (p.Cys722Gly)
|
rs1257385763
|
0.00001
|
NM_017802.4(DNAAF5):c.218G>C (p.Trp73Ser)
|
rs915848808
|
0.00001
|
NM_017802.4(DNAAF5):c.2226C>T (p.Ile742=)
|
rs762744998
|
0.00001
|
NM_017802.4(DNAAF5):c.2389C>T (p.His797Tyr)
|
rs772896273
|
0.00001
|
NM_017802.4(DNAAF5):c.23A>C (p.Glu8Ala)
|
rs1562368980
|
0.00001
|
NM_017802.4(DNAAF5):c.241T>A (p.Leu81Met)
|
rs1303155172
|
0.00001
|
NM_017802.4(DNAAF5):c.2434G>A (p.Val812Ile)
|
rs777649527
|
0.00001
|
NM_017802.4(DNAAF5):c.2460C>A (p.Phe820Leu)
|
rs915843397
|
0.00001
|
NM_017802.4(DNAAF5):c.2506C>T (p.Arg836Cys)
|
rs755610202
|
0.00001
|
NM_017802.4(DNAAF5):c.2522G>A (p.Cys841Tyr)
|
rs1779121047
|
0.00001
|
NM_017802.4(DNAAF5):c.2555C>T (p.Pro852Leu)
|
rs1301630382
|
0.00001
|
NM_017802.4(DNAAF5):c.259G>T (p.Asp87Tyr)
|
rs929444289
|
0.00001
|
NM_017802.4(DNAAF5):c.287C>T (p.Ala96Val)
|
rs1006238830
|
0.00001
|
NM_017802.4(DNAAF5):c.392C>G (p.Ala131Gly)
|
rs1347850043
|
0.00001
|
NM_017802.4(DNAAF5):c.440A>G (p.Gln147Arg)
|
rs878855038
|
0.00001
|
NM_017802.4(DNAAF5):c.63G>C (p.Thr21=)
|
rs1054283683
|
0.00001
|
NM_017802.4(DNAAF5):c.671G>A (p.Arg224His)
|
rs1395390854
|
0.00001
|
NM_017802.4(DNAAF5):c.772G>A (p.Val258Ile)
|
rs199854382
|
0.00001
|
NM_017802.4(DNAAF5):c.776C>T (p.Pro259Leu)
|
rs1046060980
|
0.00001
|
NM_017802.4(DNAAF5):c.829C>T (p.Arg277Cys)
|
rs749838774
|
0.00001
|
NM_017802.4(DNAAF5):c.892G>T (p.Val298Leu)
|
rs181807581
|
0.00001
|
NM_017802.4(DNAAF5):c.898G>A (p.Glu300Lys)
|
rs768333531
|
0.00001
|
NM_017950.4(CCDC40):c.1056C>T (p.His352=)
|
rs771256494
|
0.00001
|
NM_017950.4(CCDC40):c.1062G>A (p.Met354Ile)
|
rs752518237
|
0.00001
|
NM_017950.4(CCDC40):c.1075C>T (p.Arg359Cys)
|
rs370338926
|
0.00001
|
NM_017950.4(CCDC40):c.1150C>T (p.Arg384Cys)
|
rs758068198
|
0.00001
|
NM_017950.4(CCDC40):c.1232T>C (p.Met411Thr)
|
rs753785905
|
0.00001
|
NM_017950.4(CCDC40):c.1246C>T (p.Arg416Cys)
|
rs1489341724
|
0.00001
|
NM_017950.4(CCDC40):c.1270A>G (p.Lys424Glu)
|
rs759444068
|
0.00001
|
NM_017950.4(CCDC40):c.1305G>A (p.Glu435=)
|
rs558483927
|
0.00001
|
NM_017950.4(CCDC40):c.142G>A (p.Gly48Ser)
|
rs2289526
|
0.00001
|
NM_017950.4(CCDC40):c.1481G>A (p.Arg494His)
|
rs200084360
|
0.00001
|
NM_017950.4(CCDC40):c.1528G>A (p.Asp510Asn)
|
rs1449822865
|
0.00001
|
NM_017950.4(CCDC40):c.1594G>A (p.Gly532Ser)
|
rs936824026
|
0.00001
|
NM_017950.4(CCDC40):c.160G>A (p.Glu54Lys)
|
rs749534555
|
0.00001
|
NM_017950.4(CCDC40):c.1610A>G (p.Tyr537Cys)
|
rs779793965
|
0.00001
|
NM_017950.4(CCDC40):c.1645G>A (p.Glu549Lys)
|
rs1414723148
|
0.00001
|
NM_017950.4(CCDC40):c.166G>A (p.Val56Ile)
|
rs2037228215
|
0.00001
|
NM_017950.4(CCDC40):c.1717C>G (p.Leu573Val)
|
rs2038453559
|
0.00001
|
NM_017950.4(CCDC40):c.1726C>G (p.Gln576Glu)
|
rs864622323
|
0.00001
|
NM_017950.4(CCDC40):c.1859G>A (p.Gly620Asp)
|
rs1325923533
|
0.00001
|
NM_017950.4(CCDC40):c.1898G>A (p.Arg633Gln)
|
rs759468416
|
0.00001
|
NM_017950.4(CCDC40):c.2047C>T (p.His683Tyr)
|
rs773981691
|
0.00001
|
NM_017950.4(CCDC40):c.2169C>T (p.Ile723=)
|
rs200641382
|
0.00001
|
NM_017950.4(CCDC40):c.2216G>A (p.Arg739Gln)
|
rs774558527
|
0.00001
|
NM_017950.4(CCDC40):c.2440C>T (p.Arg814Ter)
|
rs747233125
|
0.00001
|
NM_017950.4(CCDC40):c.2497A>G (p.Met833Val)
|
rs376911979
|
0.00001
|
NM_017950.4(CCDC40):c.258T>C (p.Tyr86=)
|
rs745925890
|
0.00001
|
NM_017950.4(CCDC40):c.2724G>A (p.Met908Ile)
|
rs1211135006
|
0.00001
|
NM_017950.4(CCDC40):c.2778C>T (p.Ser926=)
|
rs779599093
|
0.00001
|
NM_017950.4(CCDC40):c.2779G>A (p.Glu927Lys)
|
rs748652606
|
0.00001
|
NM_017950.4(CCDC40):c.2832+4A>T
|
rs756602466
|
0.00001
|
NM_017950.4(CCDC40):c.2891C>T (p.Ala964Val)
|
rs752958200
|
0.00001
|
NM_017950.4(CCDC40):c.2899C>T (p.Arg967Cys)
|
rs1483239449
|
0.00001
|
NM_017950.4(CCDC40):c.2920C>T (p.Gln974Ter)
|
rs977416538
|
0.00001
|
NM_017950.4(CCDC40):c.3147C>T (p.Ala1049=)
|
rs1028095921
|
0.00001
|
NM_017950.4(CCDC40):c.3148G>A (p.Asp1050Asn)
|
rs111550470
|
0.00001
|
NM_017950.4(CCDC40):c.3151C>G (p.Leu1051Val)
|
rs201599478
|
0.00001
|
NM_017950.4(CCDC40):c.315G>A (p.Gly105=)
|
rs1398449246
|
0.00001
|
NM_017950.4(CCDC40):c.3184C>G (p.Leu1062Val)
|
rs369522039
|
0.00001
|
NM_017950.4(CCDC40):c.3196G>A (p.Val1066Met)
|
rs374932269
|
0.00001
|
NM_017950.4(CCDC40):c.3216T>G (p.Leu1072=)
|
rs758698381
|
0.00001
|
NM_017950.4(CCDC40):c.3245G>A (p.Arg1082His)
|
rs773033304
|
0.00001
|
NM_017950.4(CCDC40):c.3290G>A (p.Arg1097His)
|
rs777500902
|
0.00001
|
NM_017950.4(CCDC40):c.335C>T (p.Thr112Met)
|
rs1229219183
|
0.00001
|
NM_017950.4(CCDC40):c.3365A>C (p.Gln1122Pro)
|
rs778612110
|
0.00001
|
NM_017950.4(CCDC40):c.3367G>A (p.Glu1123Lys)
|
rs745510474
|
0.00001
|
NM_017950.4(CCDC40):c.345G>A (p.Pro115=)
|
rs561961621
|
0.00001
|
NM_017950.4(CCDC40):c.414C>T (p.Leu138=)
|
rs972409552
|
0.00001
|
NM_017950.4(CCDC40):c.550T>C (p.Leu184=)
|
rs755069671
|
0.00001
|
NM_017950.4(CCDC40):c.569A>C (p.Glu190Ala)
|
rs1568673922
|
0.00001
|
NM_017950.4(CCDC40):c.608G>A (p.Arg203His)
|
rs764262876
|
0.00001
|
NM_017950.4(CCDC40):c.705C>T (p.His235=)
|
rs564111905
|
0.00001
|
NM_017950.4(CCDC40):c.775G>A (p.Ala259Thr)
|
rs1301593481
|
0.00001
|
NM_017950.4(CCDC40):c.782G>C (p.Arg261Thr)
|
rs927440419
|
0.00001
|
NM_017950.4(CCDC40):c.792C>T (p.Ser264=)
|
rs755272659
|
0.00001
|
NM_017950.4(CCDC40):c.974A>G (p.Gln325Arg)
|
rs1287804210
|
0.00001
|
NM_017950.4(CCDC40):c.983G>A (p.Gly328Glu)
|
rs1226517451
|
0.00001
|
NM_018076.5(ODAD2):c.1019G>A (p.Arg340His)
|
rs370110172
|
0.00001
|
NM_018076.5(ODAD2):c.1043A>T (p.Lys348Ile)
|
rs763145085
|
0.00001
|
NM_018076.5(ODAD2):c.1205C>T (p.Pro402Leu)
|
rs1848650969
|
0.00001
|
NM_018076.5(ODAD2):c.1248T>G (p.Ala416=)
|
rs75389371
|
0.00001
|
NM_018076.5(ODAD2):c.1273G>A (p.Asp425Asn)
|
rs147175768
|
0.00001
|
NM_018076.5(ODAD2):c.1344A>C (p.Pro448=)
|
rs373921442
|
0.00001
|
NM_018076.5(ODAD2):c.150A>T (p.Lys50Asn)
|
rs368501109
|
0.00001
|
NM_018076.5(ODAD2):c.1529G>A (p.Cys510Tyr)
|
rs1472984153
|
0.00001
|
NM_018076.5(ODAD2):c.1651C>A (p.Leu551Ile)
|
rs759122067
|
0.00001
|
NM_018076.5(ODAD2):c.1678G>A (p.Ala560Thr)
|
rs773935799
|
0.00001
|
NM_018076.5(ODAD2):c.1703C>A (p.Ala568Glu)
|
rs1476904862
|
0.00001
|
NM_018076.5(ODAD2):c.1708C>T (p.Arg570Trp)
|
rs751718086
|
0.00001
|
NM_018076.5(ODAD2):c.1721A>G (p.Gln574Arg)
|
rs764996710
|
0.00001
|
NM_018076.5(ODAD2):c.1775C>T (p.Thr592Ile)
|
rs913433399
|
0.00001
|
NM_018076.5(ODAD2):c.1787A>G (p.Gln596Arg)
|
rs772227784
|
0.00001
|
NM_018076.5(ODAD2):c.1799A>G (p.Tyr600Cys)
|
rs369955640
|
0.00001
|
NM_018076.5(ODAD2):c.1826G>A (p.Arg609His)
|
rs193065583
|
0.00001
|
NM_018076.5(ODAD2):c.1908G>A (p.Leu636=)
|
rs749398179
|
0.00001
|
NM_018076.5(ODAD2):c.1912G>T (p.Ala638Ser)
|
rs773189950
|
0.00001
|
NM_018076.5(ODAD2):c.1955T>C (p.Val652Ala)
|
rs1228503693
|
0.00001
|
NM_018076.5(ODAD2):c.1987G>A (p.Glu663Lys)
|
rs765376476
|
0.00001
|
NM_018076.5(ODAD2):c.2190G>A (p.Glu730=)
|
rs758249171
|
0.00001
|
NM_018076.5(ODAD2):c.2192G>A (p.Arg731Gln)
|
rs746405520
|
0.00001
|
NM_018076.5(ODAD2):c.2271C>G (p.Ala757=)
|
rs112483026
|
0.00001
|
NM_018076.5(ODAD2):c.2357A>G (p.Glu786Gly)
|
rs1483019713
|
0.00001
|
NM_018076.5(ODAD2):c.2380C>T (p.Arg794Trp)
|
rs35280610
|
0.00001
|
NM_018076.5(ODAD2):c.2389G>A (p.Gly797Ser)
|
rs780057616
|
0.00001
|
NM_018076.5(ODAD2):c.2501T>C (p.Ile834Thr)
|
rs150213638
|
0.00001
|
NM_018076.5(ODAD2):c.260A>G (p.Asn87Ser)
|
rs1465895645
|
0.00001
|
NM_018076.5(ODAD2):c.2618G>A (p.Gly873Glu)
|
rs151193419
|
0.00001
|
NM_018076.5(ODAD2):c.2774C>A (p.Pro925His)
|
rs1188965657
|
0.00001
|
NM_018076.5(ODAD2):c.278T>G (p.Phe93Cys)
|
rs1849946828
|
0.00001
|
NM_018076.5(ODAD2):c.2843G>A (p.Arg948His)
|
rs553623329
|
0.00001
|
NM_018076.5(ODAD2):c.3013G>A (p.Ala1005Thr)
|
rs1167723751
|
0.00001
|
NM_018076.5(ODAD2):c.3108T>C (p.Leu1036=)
|
rs200934236
|
0.00001
|
NM_018076.5(ODAD2):c.3110C>T (p.Ala1037Val)
|
rs1835819684
|
0.00001
|
NM_018076.5(ODAD2):c.3113C>G (p.Thr1038Arg)
|
rs767489618
|
0.00001
|
NM_018076.5(ODAD2):c.314G>A (p.Gly105Glu)
|
rs756637693
|
0.00001
|
NM_018076.5(ODAD2):c.328T>G (p.Leu110Val)
|
rs200893584
|
0.00001
|
NM_018076.5(ODAD2):c.334del (p.Ile113fs)
|
rs1175750984
|
0.00001
|
NM_018076.5(ODAD2):c.337A>G (p.Ile113Val)
|
rs201275479
|
0.00001
|
NM_018076.5(ODAD2):c.445A>G (p.Ile149Val)
|
rs148416058
|
0.00001
|
NM_018076.5(ODAD2):c.544C>T (p.Leu182Phe)
|
rs746285604
|
0.00001
|
NM_018076.5(ODAD2):c.647A>G (p.Asn216Ser)
|
rs981525890
|
0.00001
|
NM_018076.5(ODAD2):c.690A>G (p.Glu230=)
|
rs371977694
|
0.00001
|
NM_018076.5(ODAD2):c.731G>A (p.Arg244His)
|
rs770059788
|
0.00001
|
NM_018076.5(ODAD2):c.761C>T (p.Pro254Leu)
|
rs868584068
|
0.00001
|
NM_018076.5(ODAD2):c.766G>A (p.Asp256Asn)
|
rs201056632
|
0.00001
|
NM_018076.5(ODAD2):c.769G>A (p.Gly257Ser)
|
rs1263657969
|
0.00001
|
NM_018139.3(DNAAF2):c.1113C>T (p.Asp371=)
|
rs556012190
|
0.00001
|
NM_018139.3(DNAAF2):c.1142C>T (p.Ala381Val)
|
rs1883250070
|
0.00001
|
NM_018139.3(DNAAF2):c.1183G>A (p.Ala395Thr)
|
rs747641713
|
0.00001
|
NM_018139.3(DNAAF2):c.1292G>A (p.Arg431His)
|
rs752971038
|
0.00001
|
NM_018139.3(DNAAF2):c.1467T>C (p.Asp489=)
|
rs201056459
|
0.00001
|
NM_018139.3(DNAAF2):c.1490A>T (p.Glu497Val)
|
rs2502767112
|
0.00001
|
NM_018139.3(DNAAF2):c.1505G>A (p.Gly502Asp)
|
rs539768992
|
0.00001
|
NM_018139.3(DNAAF2):c.154T>C (p.Tyr52His)
|
rs749085334
|
0.00001
|
NM_018139.3(DNAAF2):c.1567C>T (p.Pro523Ser)
|
rs1169233962
|
0.00001
|
NM_018139.3(DNAAF2):c.1572G>C (p.Pro524=)
|
rs759088400
|
0.00001
|
NM_018139.3(DNAAF2):c.1605T>G (p.Thr535=)
|
rs754820834
|
0.00001
|
NM_018139.3(DNAAF2):c.1638A>G (p.Gln546=)
|
rs927281714
|
0.00001
|
NM_018139.3(DNAAF2):c.174G>A (p.Ala58=)
|
rs781155100
|
0.00001
|
NM_018139.3(DNAAF2):c.1763G>C (p.Ser588Thr)
|
rs768402122
|
0.00001
|
NM_018139.3(DNAAF2):c.1795G>A (p.Ala599Thr)
|
rs756765143
|
0.00001
|
NM_018139.3(DNAAF2):c.180G>C (p.Glu60Asp)
|
rs1484307667
|
0.00001
|
NM_018139.3(DNAAF2):c.1825A>G (p.Arg609Gly)
|
rs768172147
|
0.00001
|
NM_018139.3(DNAAF2):c.1839T>C (p.Tyr613=)
|
rs760162304
|
0.00001
|
NM_018139.3(DNAAF2):c.1880A>G (p.Asn627Ser)
|
rs1248099164
|
0.00001
|
NM_018139.3(DNAAF2):c.2139A>C (p.Ala713=)
|
rs997727890
|
0.00001
|
NM_018139.3(DNAAF2):c.2180G>T (p.Cys727Phe)
|
rs771391643
|
0.00001
|
NM_018139.3(DNAAF2):c.2353C>A (p.His785Asn)
|
rs1345203982
|
0.00001
|
NM_018139.3(DNAAF2):c.2364A>G (p.Ser788=)
|
rs1379567917
|
0.00001
|
NM_018139.3(DNAAF2):c.2421C>G (p.Thr807=)
|
rs1594602058
|
0.00001
|
NM_018139.3(DNAAF2):c.2423A>G (p.Asn808Ser)
|
rs2502751831
|
0.00001
|
NM_018139.3(DNAAF2):c.299C>G (p.Ala100Gly)
|
rs1246371500
|
0.00001
|
NM_018139.3(DNAAF2):c.334G>C (p.Gly112Arg)
|
rs1409395409
|
0.00001
|
NM_018139.3(DNAAF2):c.381C>T (p.Pro127=)
|
rs1883293055
|
0.00001
|
NM_018139.3(DNAAF2):c.489G>A (p.Met163Ile)
|
rs778406709
|
0.00001
|
NM_018139.3(DNAAF2):c.573G>T (p.Lys191Asn)
|
rs1027490539
|
0.00001
|
NM_018139.3(DNAAF2):c.620G>A (p.Gly207Glu)
|
rs751429432
|
0.00001
|
NM_018139.3(DNAAF2):c.631G>A (p.Ala211Thr)
|
rs868693971
|
0.00001
|
NM_018139.3(DNAAF2):c.697G>A (p.Ala233Thr)
|
rs761407249
|
0.00001
|
NM_018139.3(DNAAF2):c.703G>A (p.Gly235Arg)
|
rs772389470
|
0.00001
|
NM_018139.3(DNAAF2):c.722C>G (p.Pro241Arg)
|
rs1409403452
|
0.00001
|
NM_018139.3(DNAAF2):c.732G>A (p.Ala244=)
|
rs570329974
|
0.00001
|
NM_018139.3(DNAAF2):c.736T>G (p.Leu246Val)
|
rs751253892
|
0.00001
|
NM_018139.3(DNAAF2):c.74C>T (p.Ser25Phe)
|
rs868381739
|
0.00001
|
NM_018139.3(DNAAF2):c.973C>G (p.Pro325Ala)
|
rs776779607
|
0.00001
|
NM_023036.6(DNAI2):c.1012G>A (p.Glu338Lys)
|
rs1228330378
|
0.00001
|
NM_023036.6(DNAI2):c.1069G>A (p.Val357Met)
|
rs766139796
|
0.00001
|
NM_023036.6(DNAI2):c.1193C>T (p.Ser398Leu)
|
rs143470009
|
0.00001
|
NM_023036.6(DNAI2):c.11T>C (p.Val4Ala)
|
rs772185024
|
0.00001
|
NM_023036.6(DNAI2):c.1288G>A (p.Gly430Arg)
|
rs765285682
|
0.00001
|
NM_023036.6(DNAI2):c.1326C>T (p.Cys442=)
|
rs537816710
|
0.00001
|
NM_023036.6(DNAI2):c.1543C>T (p.Arg515Trp)
|
rs748717910
|
0.00001
|
NM_023036.6(DNAI2):c.1613C>T (p.Ala538Val)
|
rs562043936
|
0.00001
|
NM_023036.6(DNAI2):c.1697del (p.Asp566fs)
|
rs764971993
|
0.00001
|
NM_023036.6(DNAI2):c.1699G>A (p.Ala567Thr)
|
rs778391861
|
0.00001
|
NM_023036.6(DNAI2):c.173C>T (p.Ser58Leu)
|
rs201802455
|
0.00001
|
NM_023036.6(DNAI2):c.1743A>C (p.Glu581Asp)
|
rs2053692827
|
0.00001
|
NM_023036.6(DNAI2):c.198G>A (p.Arg66=)
|
rs763731811
|
0.00001
|
NM_023036.6(DNAI2):c.252C>T (p.Asp84=)
|
rs778114743
|
0.00001
|
NM_023036.6(DNAI2):c.296A>C (p.Lys99Thr)
|
rs200125805
|
0.00001
|
NM_023036.6(DNAI2):c.336G>T (p.Gln112His)
|
rs751496866
|
0.00001
|
NM_023036.6(DNAI2):c.380T>C (p.Ile127Thr)
|
rs372975955
|
0.00001
|
NM_023036.6(DNAI2):c.410A>C (p.Glu137Ala)
|
rs1465598154
|
0.00001
|
NM_023036.6(DNAI2):c.45G>A (p.Gly15=)
|
rs751121542
|
0.00001
|
NM_023036.6(DNAI2):c.467+5C>T
|
rs529401265
|
0.00001
|
NM_023036.6(DNAI2):c.579C>T (p.Gly193=)
|
rs2051967453
|
0.00001
|
NM_023036.6(DNAI2):c.611-5T>G
|
rs1378230679
|
0.00001
|
NM_023036.6(DNAI2):c.648G>A (p.Ser216=)
|
rs372009842
|
0.00001
|
NM_023036.6(DNAI2):c.664T>C (p.Leu222=)
|
rs765870884
|
0.00001
|
NM_023036.6(DNAI2):c.712A>G (p.Asn238Asp)
|
rs1033678565
|
0.00001
|
NM_023036.6(DNAI2):c.793C>T (p.Pro265Ser)
|
rs1264727730
|
0.00001
|
NM_023036.6(DNAI2):c.866T>C (p.Val289Ala)
|
rs761883293
|
0.00001
|
NM_023036.6(DNAI2):c.884G>A (p.Arg295Gln)
|
rs1461755550
|
0.00001
|
NM_023036.6(DNAI2):c.978A>T (p.Glu326Asp)
|
rs763193003
|
0.00001
|
NM_152732.5(RSPH9):c.117C>A (p.Tyr39Ter)
|
rs1233811324
|
0.00001
|
NM_152732.5(RSPH9):c.118C>T (p.Arg40Cys)
|
rs937089073
|
0.00001
|
NM_152732.5(RSPH9):c.272A>G (p.Glu91Gly)
|
rs777885477
|
0.00001
|
NM_152732.5(RSPH9):c.305G>A (p.Arg102His)
|
rs1442175951
|
0.00001
|
NM_152732.5(RSPH9):c.31G>A (p.Glu11Lys)
|
rs946497085
|
0.00001
|
NM_152732.5(RSPH9):c.655C>T (p.His219Tyr)
|
rs111643012
|
0.00001
|
NM_152732.5(RSPH9):c.73C>T (p.Arg25Trp)
|
rs144495451
|
0.00001
|
NM_152732.5(RSPH9):c.753T>C (p.His251=)
|
rs2532864905
|
0.00001
|
NM_152732.5(RSPH9):c.754G>A (p.Ala252Thr)
|
rs1240578557
|
0.00001
|
NM_152732.5(RSPH9):c.757C>T (p.Pro253Ser)
|
rs1449083319
|
0.00001
|
NM_178452.6(DNAAF1):c.1016A>G (p.Glu339Gly)
|
rs779981792
|
0.00001
|
NM_178452.6(DNAAF1):c.107G>C (p.Arg36Pro)
|
rs932149217
|
0.00001
|
NM_178452.6(DNAAF1):c.112G>A (p.Gly38Ser)
|
rs551990619
|
0.00001
|
NM_178452.6(DNAAF1):c.1131A>G (p.Leu377=)
|
rs138200496
|
0.00001
|
NM_178452.6(DNAAF1):c.1384C>G (p.Gln462Glu)
|
rs930798464
|
0.00001
|
NM_178452.6(DNAAF1):c.1385A>G (p.Gln462Arg)
|
rs754914584
|
0.00001
|
NM_178452.6(DNAAF1):c.1430C>T (p.Pro477Leu)
|
rs769351361
|
0.00001
|
NM_178452.6(DNAAF1):c.1465G>A (p.Glu489Lys)
|
rs769802996
|
0.00001
|
NM_178452.6(DNAAF1):c.151G>A (p.Val51Met)
|
rs201910542
|
0.00001
|
NM_178452.6(DNAAF1):c.1550C>T (p.Ala517Val)
|
rs754836834
|
0.00001
|
NM_178452.6(DNAAF1):c.158C>T (p.Ser53Phe)
|
rs374229399
|
0.00001
|
NM_178452.6(DNAAF1):c.1592C>T (p.Thr531Met)
|
rs193291760
|
0.00001
|
NM_178452.6(DNAAF1):c.1614A>G (p.Arg538=)
|
rs2088408495
|
0.00001
|
NM_178452.6(DNAAF1):c.1629G>C (p.Glu543Asp)
|
rs1366180142
|
0.00001
|
NM_178452.6(DNAAF1):c.1640T>C (p.Ile547Thr)
|
rs1237430918
|
0.00001
|
NM_178452.6(DNAAF1):c.165C>A (p.Asp55Glu)
|
rs2087059445
|
0.00001
|
NM_178452.6(DNAAF1):c.1770G>A (p.Thr590=)
|
rs747916153
|
0.00001
|
NM_178452.6(DNAAF1):c.1798A>G (p.Thr600Ala)
|
rs199630305
|
0.00001
|
NM_178452.6(DNAAF1):c.1806T>C (p.Thr602=)
|
rs145760481
|
0.00001
|
NM_178452.6(DNAAF1):c.1831A>G (p.Lys611Glu)
|
rs369830021
|
0.00001
|
NM_178452.6(DNAAF1):c.183G>T (p.Gln61His)
|
rs2507335587
|
0.00001
|
NM_178452.6(DNAAF1):c.1849G>A (p.Ala617Thr)
|
rs1308243842
|
0.00001
|
NM_178452.6(DNAAF1):c.2019T>C (p.Thr673=)
|
rs1431166098
|
0.00001
|
NM_178452.6(DNAAF1):c.2048T>C (p.Leu683Pro)
|
rs778385409
|
0.00001
|
NM_178452.6(DNAAF1):c.2070G>A (p.Pro690=)
|
rs772036783
|
0.00001
|
NM_178452.6(DNAAF1):c.2083G>A (p.Ala695Thr)
|
rs775618173
|
0.00001
|
NM_178452.6(DNAAF1):c.2099C>T (p.Thr700Met)
|
rs761384380
|
0.00001
|
NM_178452.6(DNAAF1):c.2176T>C (p.Ter726Gln)
|
rs962153209
|
0.00001
|
NM_178452.6(DNAAF1):c.285A>T (p.Lys95Asn)
|
rs570928611
|
0.00001
|
NM_178452.6(DNAAF1):c.33T>C (p.Gly11=)
|
rs1161424646
|
0.00001
|
NM_178452.6(DNAAF1):c.364A>G (p.Ile122Val)
|
rs932160879
|
0.00001
|
NM_178452.6(DNAAF1):c.461G>A (p.Arg154His)
|
rs200946538
|
0.00001
|
NM_178452.6(DNAAF1):c.690C>T (p.Asn230=)
|
rs764006229
|
0.00001
|
NM_178452.6(DNAAF1):c.705G>A (p.Pro235=)
|
rs759831401
|
0.00001
|
NM_178452.6(DNAAF1):c.818A>G (p.Lys273Arg)
|
rs1023484282
|
0.00001
|
NM_178452.6(DNAAF1):c.940C>T (p.Arg314Trp)
|
rs536922836
|
0.00001
|
NM_181426.2(CCDC39):c.107A>G (p.Asp36Gly)
|
rs369263891
|
0.00001
|
NM_181426.2(CCDC39):c.1202T>C (p.Val401Ala)
|
rs1456811903
|
0.00001
|
NM_181426.2(CCDC39):c.1239A>G (p.Thr413=)
|
rs373094293
|
0.00001
|
NM_181426.2(CCDC39):c.1404A>G (p.Leu468=)
|
rs1335379185
|
0.00001
|
NM_181426.2(CCDC39):c.1557T>C (p.His519=)
|
rs751898902
|
0.00001
|
NM_181426.2(CCDC39):c.1611C>T (p.Asn537=)
|
rs370618523
|
0.00001
|
NM_181426.2(CCDC39):c.1625G>T (p.Arg542Ile)
|
rs1415524039
|
0.00001
|
NM_181426.2(CCDC39):c.1639C>T (p.Leu547Phe)
|
rs912751506
|
0.00001
|
NM_181426.2(CCDC39):c.1687C>T (p.Leu563Phe)
|
rs373070816
|
0.00001
|
NM_181426.2(CCDC39):c.1848T>C (p.Tyr616=)
|
rs774871939
|
0.00001
|
NM_181426.2(CCDC39):c.1888G>A (p.Glu630Lys)
|
rs774841018
|
0.00001
|
NM_181426.2(CCDC39):c.1908G>A (p.Glu636=)
|
rs770356376
|
0.00001
|
NM_181426.2(CCDC39):c.1935G>T (p.Leu645=)
|
rs1030308648
|
0.00001
|
NM_181426.2(CCDC39):c.1999-2A>T
|
rs1399517463
|
0.00001
|
NM_181426.2(CCDC39):c.2102T>G (p.Val701Gly)
|
rs980451572
|
0.00001
|
NM_181426.2(CCDC39):c.2112C>T (p.Ser704=)
|
rs971075780
|
0.00001
|
NM_181426.2(CCDC39):c.2303C>T (p.Ala768Val)
|
rs1400344619
|
0.00001
|
NM_181426.2(CCDC39):c.2349T>C (p.Phe783=)
|
rs747568407
|
0.00001
|
NM_181426.2(CCDC39):c.255T>C (p.His85=)
|
rs769151570
|
0.00001
|
NM_181426.2(CCDC39):c.2642C>T (p.Ser881Phe)
|
rs1015604911
|
0.00001
|
NM_181426.2(CCDC39):c.308G>A (p.Arg103Gln)
|
rs766541691
|
0.00001
|
NM_181426.2(CCDC39):c.551A>C (p.Glu184Ala)
|
rs752974826
|
0.00001
|
NM_181426.2(CCDC39):c.560A>G (p.Gln187Arg)
|
rs759260813
|
0.00001
|
NM_181426.2(CCDC39):c.581A>G (p.Asn194Ser)
|
rs372208254
|
0.00001
|
NM_181426.2(CCDC39):c.669C>A (p.Leu223=)
|
rs774386573
|
0.00001
|
NM_181426.2(CCDC39):c.689C>T (p.Thr230Ile)
|
rs1445512588
|
0.00001
|
NM_181426.2(CCDC39):c.834G>C (p.Glu278Asp)
|
rs754596042
|
0.00001
|
NM_181426.2(CCDC39):c.863G>A (p.Arg288His)
|
rs576805965
|
0.00001
|
NM_213607.3(DNAAF19):c.329G>A (p.Arg110Gln)
|
rs755213252
|
0.00001
|
NM_213607.3(DNAAF19):c.348G>C (p.Gly116=)
|
rs575078578
|
0.00001
|
NM_213607.3(DNAAF19):c.558A>C (p.Ala186=)
|
rs1034464450
|
0.00001
|
NM_213607.3(DNAAF19):c.72G>A (p.Glu24=)
|
rs752532336
|
0.00001
|
NM_000328.3(RPGR):c.1997_1998del (p.Val666fs)
|
rs2519757776
|
|
NM_000328.3(RPGR):c.2146A>G (p.Lys716Glu)
|
rs771791722
|
|
NM_000328.3(RPGR):c.2154C>T (p.Tyr718=)
|
rs1360592729
|
|
NM_000328.3(RPGR):c.2172T>C (p.Asp724=)
|
rs2066878031
|
|
NM_000328.3(RPGR):c.2353A>G (p.Asn785Asp)
|
|
|
NM_000328.3(RPGR):c.2365G>C (p.Asp789His)
|
|
|
NM_000328.3(RPGR):c.2384A>G (p.Gln795Arg)
|
|
|
NM_000328.3(RPGR):c.2439A>G (p.Thr813=)
|
rs1269822165
|
|
NM_001010892.3(RSPH4A):c.-17_-16insCACGCCCCT
|
rs534111713
|
|
NM_001010892.3(RSPH4A):c.1003T>C (p.Tyr335His)
|
rs1490552419
|
|
NM_001010892.3(RSPH4A):c.1033A>G (p.Thr345Ala)
|
|
|
NM_001010892.3(RSPH4A):c.1036G>C (p.Asp346His)
|
|
|
NM_001010892.3(RSPH4A):c.111_125del (p.Glu38_Pro42del)
|
rs776700072
|
|
NM_001010892.3(RSPH4A):c.1185A>C (p.Glu395Asp)
|
rs2482803199
|
|
NM_001010892.3(RSPH4A):c.1234A>G (p.Lys412Glu)
|
|
|
NM_001010892.3(RSPH4A):c.1262A>G (p.Glu421Gly)
|
|
|
NM_001010892.3(RSPH4A):c.1264A>G (p.Ser422Gly)
|
rs201899176
|
|
NM_001010892.3(RSPH4A):c.1268G>C (p.Arg423Thr)
|
rs2115361973
|
|
NM_001010892.3(RSPH4A):c.1309C>G (p.Pro437Ala)
|
|
|
NM_001010892.3(RSPH4A):c.1376A>T (p.Lys459Met)
|
rs2482803744
|
|
NM_001010892.3(RSPH4A):c.1410C>T (p.Ile470=)
|
rs775326896
|
|
NM_001010892.3(RSPH4A):c.1424C>A (p.Pro475His)
|
|
|
NM_001010892.3(RSPH4A):c.1514T>C (p.Phe505Ser)
|
rs565491418
|
|
NM_001010892.3(RSPH4A):c.1522G>A (p.Glu508Lys)
|
|
|
NM_001010892.3(RSPH4A):c.1524G>C (p.Glu508Asp)
|
|
|
NM_001010892.3(RSPH4A):c.1527A>T (p.Glu509Asp)
|
rs78666631
|
|
NM_001010892.3(RSPH4A):c.1606G>C (p.Asp536His)
|
|
|
NM_001010892.3(RSPH4A):c.1641T>C (p.His547=)
|
rs201238941
|
|
NM_001010892.3(RSPH4A):c.1719A>T (p.Glu573Asp)
|
|
|
NM_001010892.3(RSPH4A):c.1735G>A (p.Asp579Asn)
|
|
|
NM_001010892.3(RSPH4A):c.1741G>A (p.Asp581Asn)
|
|
|
NM_001010892.3(RSPH4A):c.1771C>T (p.Leu591Phe)
|
|
|
NM_001010892.3(RSPH4A):c.1803T>A (p.Ile601=)
|
rs759290763
|
|
NM_001010892.3(RSPH4A):c.1817C>G (p.Pro606Arg)
|
rs138413282
|
|
NM_001010892.3(RSPH4A):c.1817C>T (p.Pro606Leu)
|
rs138413282
|
|
NM_001010892.3(RSPH4A):c.1829G>C (p.Arg610Pro)
|
rs751741926
|
|
NM_001010892.3(RSPH4A):c.1919A>T (p.Lys640Met)
|
|
|
NM_001010892.3(RSPH4A):c.1933T>C (p.Tyr645His)
|
rs1323008510
|
|
NM_001010892.3(RSPH4A):c.1936A>G (p.Ile646Val)
|
rs375132889
|
|
NM_001010892.3(RSPH4A):c.1976C>T (p.Pro659Leu)
|
rs372634959
|
|
NM_001010892.3(RSPH4A):c.2095G>A (p.Ala699Thr)
|
rs372304999
|
|
NM_001010892.3(RSPH4A):c.2096C>A (p.Ala699Glu)
|
|
|
NM_001010892.3(RSPH4A):c.2126A>G (p.Glu709Gly)
|
|
|
NM_001010892.3(RSPH4A):c.2133G>A (p.Glu711=)
|
|
|
NM_001010892.3(RSPH4A):c.215G>T (p.Gly72Val)
|
rs2482777442
|
|
NM_001010892.3(RSPH4A):c.272C>G (p.Ser91Cys)
|
|
|
NM_001010892.3(RSPH4A):c.296C>T (p.Pro99Leu)
|
rs1775514576
|
|
NM_001010892.3(RSPH4A):c.418C>A (p.His140Asn)
|
rs753180816
|
|
NM_001010892.3(RSPH4A):c.453A>G (p.Gln151=)
|
|
|
NM_001010892.3(RSPH4A):c.456G>A (p.Gln152=)
|
|
|
NM_001010892.3(RSPH4A):c.46G>C (p.Glu16Gln)
|
rs780975506
|
|
NM_001010892.3(RSPH4A):c.483T>G (p.Cys161Trp)
|
|
|
NM_001010892.3(RSPH4A):c.495C>A (p.Asp165Glu)
|
|
|
NM_001010892.3(RSPH4A):c.495C>T (p.Asp165=)
|
rs767593671
|
|
NM_001010892.3(RSPH4A):c.505A>G (p.Asn169Asp)
|
rs2482778654
|
|
NM_001010892.3(RSPH4A):c.511G>C (p.Ala171Pro)
|
rs761222226
|
|
NM_001010892.3(RSPH4A):c.517C>T (p.Gln173Ter)
|
rs1244173581
|
|
NM_001010892.3(RSPH4A):c.555C>T (p.Asp185=)
|
|
|
NM_001010892.3(RSPH4A):c.585G>T (p.Pro195=)
|
rs1562388031
|
|
NM_001010892.3(RSPH4A):c.587C>T (p.Ala196Val)
|
|
|
NM_001010892.3(RSPH4A):c.646G>A (p.Ala216Thr)
|
|
|
NM_001010892.3(RSPH4A):c.675G>A (p.Ser225=)
|
rs79327004
|
|
NM_001010892.3(RSPH4A):c.70T>C (p.Trp24Arg)
|
|
|
NM_001010892.3(RSPH4A):c.921+3_921+6del
|
rs869320683
|
|
NM_001010892.3(RSPH4A):c.983G>A (p.Gly328Asp)
|
|
|
NM_001034853.2(RPGR):c.-14G>A
|
rs1169756982
|
|
NM_001034853.2(RPGR):c.1015A>G (p.Ile339Val)
|
rs2519836277
|
|
NM_001034853.2(RPGR):c.1041G>C (p.Leu347Phe)
|
|
|
NM_001034853.2(RPGR):c.1092dup (p.Ala365fs)
|
rs281865301
|
|
NM_001034853.2(RPGR):c.1115C>G (p.Ala372Gly)
|
|
|
NM_001034853.2(RPGR):c.1125T>A (p.Ile375=)
|
|
|
NM_001034853.2(RPGR):c.1243_1244del (p.Arg415fs)
|
rs281865302
|
|
NM_001034853.2(RPGR):c.1300A>G (p.Thr434Ala)
|
|
|
NM_001034853.2(RPGR):c.1396A>G (p.Met466Val)
|
rs774476238
|
|
NM_001034853.2(RPGR):c.1576CAA[1] (p.Gln527del)
|
rs62653033
|
|
NM_001034853.2(RPGR):c.1586T>A (p.Ile529Asn)
|
rs2519799043
|
|
NM_001034853.2(RPGR):c.1607C>T (p.Thr536Ile)
|
rs1380365858
|
|
NM_001034853.2(RPGR):c.1650G>A (p.Met550Ile)
|
rs2067218635
|
|
NM_001034853.2(RPGR):c.1709C>A (p.Thr570Lys)
|
|
|
NM_001034853.2(RPGR):c.1728C>G (p.Ile576Met)
|
|
|
NM_001034853.2(RPGR):c.1822G>A (p.Ala608Thr)
|
|
|
NM_001034853.2(RPGR):c.1880C>G (p.Ser627Ter)
|
rs2147200625
|
|
NM_001034853.2(RPGR):c.417G>A (p.Glu139=)
|
rs777541233
|
|
NM_001034853.2(RPGR):c.448A>G (p.Asn150Asp)
|
|
|
NM_001034853.2(RPGR):c.467C>A (p.Thr156Asn)
|
rs751512713
|
|
NM_001034853.2(RPGR):c.528T>C (p.Asn176=)
|
rs2519889109
|
|
NM_001034853.2(RPGR):c.529G>A (p.Val177Ile)
|
rs751501198
|
|
NM_001034853.2(RPGR):c.607G>C (p.Ala203Pro)
|
rs2519888607
|
|
NM_001034853.2(RPGR):c.68C>A (p.Ala23Asp)
|
rs2147291804
|
|
NM_001034853.2(RPGR):c.711G>C (p.Leu237=)
|
|
|
NM_001034853.2(RPGR):c.779-5T>G
|
rs2067565504
|
|
NM_001034853.2(RPGR):c.87A>G (p.Lys29=)
|
rs2519912391
|
|
NM_001034853.2(RPGR):c.948G>A (p.Met316Ile)
|
rs2519836659
|
|
NM_001256715.2(DNAAF3):c.-21A>T
|
|
|
NM_001256715.2(DNAAF3):c.-60A>G
|
|
|
NM_001256715.2(DNAAF3):c.-78G>A
|
rs2515549286
|
|
NM_001256715.2(DNAAF3):c.-93C>T
|
|
|
NM_001256715.2(DNAAF3):c.1031C>G (p.Pro344Arg)
|
rs543007128
|
|
NM_001256715.2(DNAAF3):c.1036C>T (p.Pro346Ser)
|
rs764321844
|
|
NM_001256715.2(DNAAF3):c.107C>T (p.Ser36Phe)
|
rs2515545587
|
|
NM_001256715.2(DNAAF3):c.1100C>A (p.Ala367Asp)
|
rs768812237
|
|
NM_001256715.2(DNAAF3):c.1131C>G (p.Asn377Lys)
|
rs368717048
|
|
NM_001256715.2(DNAAF3):c.1136G>A (p.Arg379Gln)
|
|
|
NM_001256715.2(DNAAF3):c.114C>T (p.Ala38=)
|
rs1228746764
|
|
NM_001256715.2(DNAAF3):c.1157C>G (p.Ala386Gly)
|
rs759305002
|
|
NM_001256715.2(DNAAF3):c.1167G>C (p.Met389Ile)
|
|
|
NM_001256715.2(DNAAF3):c.1219T>C (p.Leu407=)
|
rs1416853193
|
|
NM_001256715.2(DNAAF3):c.1253T>C (p.Val418Ala)
|
rs2515511096
|
|
NM_001256715.2(DNAAF3):c.1273G>C (p.Gly425Arg)
|
rs2515510985
|
|
NM_001256715.2(DNAAF3):c.1293G>T (p.Arg431Ser)
|
rs2085776209
|
|
NM_001256715.2(DNAAF3):c.1377A>C (p.Glu459Asp)
|
rs372161739
|
|
NM_001256715.2(DNAAF3):c.1377A>G (p.Glu459=)
|
|
|
NM_001256715.2(DNAAF3):c.1394C>G (p.Thr465Ser)
|
rs886054638
|
|
NM_001256715.2(DNAAF3):c.1396G>A (p.Val466Ile)
|
|
|
NM_001256715.2(DNAAF3):c.1443G>C (p.Gln481His)
|
rs751901961
|
|
NM_001256715.2(DNAAF3):c.1448T>C (p.Leu483Pro)
|
rs1360301530
|
|
NM_001256715.2(DNAAF3):c.1453G>A (p.Ala485Thr)
|
rs1599916173
|
|
NM_001256715.2(DNAAF3):c.1516C>T (p.Pro506Ser)
|
rs2085770745
|
|
NM_001256715.2(DNAAF3):c.1549C>T (p.Leu517Phe)
|
|
|
NM_001256715.2(DNAAF3):c.1585del (p.Ala529fs)
|
rs1371933770
|
|
NM_001256715.2(DNAAF3):c.1604C>T (p.Ser535Leu)
|
|
|
NM_001256715.2(DNAAF3):c.172C>T (p.Arg58Trp)
|
|
|
NM_001256715.2(DNAAF3):c.175C>T (p.His59Tyr)
|
|
|
NM_001256715.2(DNAAF3):c.180G>T (p.Leu60=)
|
rs761236489
|
|
NM_001256715.2(DNAAF3):c.303G>C (p.Pro101=)
|
rs371199276
|
|
NM_001256715.2(DNAAF3):c.382G>A (p.Ala128Thr)
|
rs1599923566
|
|
NM_001256715.2(DNAAF3):c.402C>T (p.Ala134=)
|
rs1056296743
|
|
NM_001256715.2(DNAAF3):c.413C>T (p.Ala138Val)
|
|
|
NM_001256715.2(DNAAF3):c.436C>A (p.Arg146Ser)
|
rs920046859
|
|
NM_001256715.2(DNAAF3):c.480+5C>A
|
rs757597159
|
|
NM_001256715.2(DNAAF3):c.490C>T (p.Arg164Trp)
|
rs763784422
|
|
NM_001256715.2(DNAAF3):c.49T>A (p.Trp17Arg)
|
|
|
NM_001256715.2(DNAAF3):c.514C>G (p.Arg172Gly)
|
rs2085840508
|
|
NM_001256715.2(DNAAF3):c.514C>T (p.Arg172Cys)
|
|
|
NM_001256715.2(DNAAF3):c.515G>T (p.Arg172Leu)
|
|
|
NM_001256715.2(DNAAF3):c.548_558dup (p.Ser187delinsArgSerProTer)
|
rs2147297973
|
|
NM_001256715.2(DNAAF3):c.575C>T (p.Ser192Leu)
|
|
|
NM_001256715.2(DNAAF3):c.596G>A (p.Gly199Asp)
|
rs1027477113
|
|
NM_001256715.2(DNAAF3):c.634G>C (p.Asp212His)
|
rs2515525716
|
|
NM_001256715.2(DNAAF3):c.678C>A (p.His226Gln)
|
rs1430003811
|
|
NM_001256715.2(DNAAF3):c.700C>T (p.Arg234Trp)
|
|
|
NM_001256715.2(DNAAF3):c.767C>G (p.Ala256Gly)
|
rs201937522
|
|
NM_001256715.2(DNAAF3):c.767C>T (p.Ala256Val)
|
rs201937522
|
|
NM_001256715.2(DNAAF3):c.772G>A (p.Gly258Ser)
|
|
|
NM_001256715.2(DNAAF3):c.775C>T (p.Arg259Cys)
|
rs765974072
|
|
NM_001256715.2(DNAAF3):c.852C>A (p.Ala284=)
|
|
|
NM_001256715.2(DNAAF3):c.878G>A (p.Ser293Asn)
|
|
|
NM_001256715.2(DNAAF3):c.880C>T (p.Leu294Phe)
|
rs2515521608
|
|
NM_001256715.2(DNAAF3):c.890C>G (p.Thr297Arg)
|
|
|
NM_001256715.2(DNAAF3):c.901C>T (p.Gln301Ter)
|
rs2085819579
|
|
NM_001256715.2(DNAAF3):c.913A>T (p.Thr305Ser)
|
|
|
NM_001256715.2(DNAAF3):c.936C>T (p.His312=)
|
rs1257841129
|
|
NM_001256715.2(DNAAF3):c.980C>G (p.Ala327Gly)
|
|
|
NM_001277115.2(DNAH11):c.10007C>G (p.Ala3336Gly)
|
|
|
NM_001277115.2(DNAH11):c.10010T>C (p.Ile3337Thr)
|
|
|
NM_001277115.2(DNAH11):c.10019A>C (p.Lys3340Thr)
|
rs1788333100
|
|
NM_001277115.2(DNAH11):c.10027G>T (p.Asp3343Tyr)
|
rs1336071429
|
|
NM_001277115.2(DNAH11):c.10063T>C (p.Phe3355Leu)
|
rs2535310450
|
|
NM_001277115.2(DNAH11):c.10073C>T (p.Ala3358Val)
|
rs1372775459
|
|
NM_001277115.2(DNAH11):c.10091G>A (p.Arg3364Gln)
|
rs369682703
|
|
NM_001277115.2(DNAH11):c.10091G>T (p.Arg3364Leu)
|
rs369682703
|
|
NM_001277115.2(DNAH11):c.100_101delinsTT (p.Glu34Leu)
|
rs398123604
|
|
NM_001277115.2(DNAH11):c.10110C>T (p.Asn3370=)
|
rs746877733
|
|
NM_001277115.2(DNAH11):c.10129A>G (p.Lys3377Glu)
|
rs765363031
|
|
NM_001277115.2(DNAH11):c.10138A>G (p.Asn3380Asp)
|
rs766787311
|
|
NM_001277115.2(DNAH11):c.10221_10222del (p.Cys3408fs)
|
rs886042735
|
|
NM_001277115.2(DNAH11):c.10242G>A (p.Thr3414=)
|
rs559218045
|
|
NM_001277115.2(DNAH11):c.10267C>A (p.Pro3423Thr)
|
rs2535331524
|
|
NM_001277115.2(DNAH11):c.10286G>T (p.Arg3429Leu)
|
|
|
NM_001277115.2(DNAH11):c.10379C>T (p.Thr3460Met)
|
rs573384750
|
|
NM_001277115.2(DNAH11):c.10399G>T (p.Ala3467Ser)
|
rs2214326
|
|
NM_001277115.2(DNAH11):c.10410C>A (p.Asn3470Lys)
|
rs746707590
|
|
NM_001277115.2(DNAH11):c.10414G>A (p.Gly3472Arg)
|
rs1169795797
|
|
NM_001277115.2(DNAH11):c.10437C>T (p.Ser3479=)
|
rs1230187187
|
|
NM_001277115.2(DNAH11):c.10507A>G (p.Ile3503Val)
|
|
|
NM_001277115.2(DNAH11):c.10567G>T (p.Gly3523Trp)
|
|
|
NM_001277115.2(DNAH11):c.10568G>T (p.Gly3523Val)
|
rs1223461836
|
|
NM_001277115.2(DNAH11):c.10639A>G (p.Ile3547Val)
|
rs1396104759
|
|
NM_001277115.2(DNAH11):c.10673A>G (p.Asn3558Ser)
|
rs752231547
|
|
NM_001277115.2(DNAH11):c.10680del (p.Gly3563fs)
|
rs2535362742
|
|
NM_001277115.2(DNAH11):c.10682A>C (p.Lys3561Thr)
|
rs1407279347
|
|
NM_001277115.2(DNAH11):c.10690A>G (p.Lys3564Glu)
|
rs2535362933
|
|
NM_001277115.2(DNAH11):c.10701G>T (p.Arg3567Ser)
|
rs375965591
|
|
NM_001277115.2(DNAH11):c.10727A>T (p.Asn3576Ile)
|
|
|
NM_001277115.2(DNAH11):c.1072C>A (p.Arg358Ser)
|
rs749125298
|
|
NM_001277115.2(DNAH11):c.1075A>G (p.Ile359Val)
|
rs2534495831
|
|
NM_001277115.2(DNAH11):c.10781C>T (p.Pro3594Leu)
|
rs770336845
|
|
NM_001277115.2(DNAH11):c.10800A>T (p.Thr3600=)
|
rs1199435797
|
|
NM_001277115.2(DNAH11):c.10849C>A (p.Leu3617Met)
|
rs781316164
|
|
NM_001277115.2(DNAH11):c.1084G>C (p.Ala362Pro)
|
rs771256529
|
|
NM_001277115.2(DNAH11):c.10900G>T (p.Val3634Leu)
|
|
|
NM_001277115.2(DNAH11):c.10903T>C (p.Leu3635=)
|
rs2535463746
|
|
NM_001277115.2(DNAH11):c.10942T>C (p.Tyr3648His)
|
|
|
NM_001277115.2(DNAH11):c.10957C>T (p.Leu3653Phe)
|
rs753925767
|
|
NM_001277115.2(DNAH11):c.1097A>T (p.His366Leu)
|
rs1220335751
|
|
NM_001277115.2(DNAH11):c.1100C>T (p.Thr367Ile)
|
|
|
NM_001277115.2(DNAH11):c.11068G>A (p.Glu3690Lys)
|
|
|
NM_001277115.2(DNAH11):c.11096A>G (p.Asn3699Ser)
|
rs370458679
|
|
NM_001277115.2(DNAH11):c.11107G>A (p.Glu3703Lys)
|
rs762297426
|
|
NM_001277115.2(DNAH11):c.11126C>T (p.Ala3709Val)
|
rs1360195794
|
|
NM_001277115.2(DNAH11):c.11140C>T (p.Leu3714Phe)
|
|
|
NM_001277115.2(DNAH11):c.11203-1G>C
|
rs1783074775
|
|
NM_001277115.2(DNAH11):c.11210A>G (p.Asn3737Ser)
|
rs2535493764
|
|
NM_001277115.2(DNAH11):c.11212G>A (p.Val3738Met)
|
rs777903360
|
|
NM_001277115.2(DNAH11):c.11232C>G (p.Ile3744Met)
|
rs201120788
|
|
NM_001277115.2(DNAH11):c.11237A>C (p.Gln3746Pro)
|
rs2535493886
|
|
NM_001277115.2(DNAH11):c.11242G>A (p.Asp3748Asn)
|
rs1488189007
|
|
NM_001277115.2(DNAH11):c.11244C>G (p.Asp3748Glu)
|
|
|
NM_001277115.2(DNAH11):c.11257A>G (p.Met3753Val)
|
rs1026816105
|
|
NM_001277115.2(DNAH11):c.11289C>T (p.Ser3763=)
|
rs2535494184
|
|
NM_001277115.2(DNAH11):c.11291T>C (p.Ile3764Thr)
|
rs2535494195
|
|
NM_001277115.2(DNAH11):c.11308C>T (p.Leu3770Phe)
|
|
|
NM_001277115.2(DNAH11):c.11323G>A (p.Ala3775Thr)
|
|
|
NM_001277115.2(DNAH11):c.11442C>G (p.His3814Gln)
|
rs370056975
|
|
NM_001277115.2(DNAH11):c.11446C>T (p.His3816Tyr)
|
rs745855957
|
|
NM_001277115.2(DNAH11):c.11449C>T (p.Leu3817=)
|
rs902179397
|
|
NM_001277115.2(DNAH11):c.11455C>T (p.Pro3819Ser)
|
rs2535501329
|
|
NM_001277115.2(DNAH11):c.11505C>T (p.Ala3835=)
|
rs762186712
|
|
NM_001277115.2(DNAH11):c.11508C>G (p.Val3836=)
|
rs199627577
|
|
NM_001277115.2(DNAH11):c.11508C>T (p.Val3836=)
|
rs199627577
|
|
NM_001277115.2(DNAH11):c.11534G>A (p.Arg3845Gln)
|
rs371438607
|
|
NM_001277115.2(DNAH11):c.11534G>T (p.Arg3845Leu)
|
rs371438607
|
|
NM_001277115.2(DNAH11):c.11604A>T (p.Leu3868Phe)
|
rs753379503
|
|
NM_001277115.2(DNAH11):c.11670C>A (p.Asp3890Glu)
|
rs548184198
|
|
NM_001277115.2(DNAH11):c.11683G>C (p.Ala3895Pro)
|
rs1203128467
|
|
NM_001277115.2(DNAH11):c.11711T>A (p.Leu3904Gln)
|
rs2534033704
|
|
NM_001277115.2(DNAH11):c.11712G>A (p.Leu3904=)
|
rs761612271
|
|
NM_001277115.2(DNAH11):c.11724T>C (p.Tyr3908=)
|
|
|
NM_001277115.2(DNAH11):c.11738G>C (p.Arg3913Thr)
|
rs1583791395
|
|
NM_001277115.2(DNAH11):c.11799G>C (p.Leu3933=)
|
|
|
NM_001277115.2(DNAH11):c.11810T>C (p.Val3937Ala)
|
|
|
NM_001277115.2(DNAH11):c.11847A>C (p.Arg3949Ser)
|
rs2128035660
|
|
NM_001277115.2(DNAH11):c.11865C>G (p.Asp3955Glu)
|
|
|
NM_001277115.2(DNAH11):c.11867C>T (p.Ser3956Phe)
|
|
|
NM_001277115.2(DNAH11):c.11899G>A (p.Gly3967Ser)
|
|
|
NM_001277115.2(DNAH11):c.11912T>A (p.Val3971Glu)
|
rs2534038629
|
|
NM_001277115.2(DNAH11):c.1194+3A>G
|
rs1267498574
|
|
NM_001277115.2(DNAH11):c.11941A>G (p.Lys3981Glu)
|
|
|
NM_001277115.2(DNAH11):c.11944G>A (p.Gly3982Arg)
|
rs1783392241
|
|
NM_001277115.2(DNAH11):c.11951A>C (p.His3984Pro)
|
rs1783392419
|
|
NM_001277115.2(DNAH11):c.11956G>A (p.Val3986Ile)
|
rs1431407809
|
|
NM_001277115.2(DNAH11):c.11991G>C (p.Trp3997Cys)
|
|
|
NM_001277115.2(DNAH11):c.11_22dup (p.Ala7_Arg8insGlnValAlaAla)
|
rs1554305648
|
|
NM_001277115.2(DNAH11):c.12020G>T (p.Arg4007Ile)
|
rs977512902
|
|
NM_001277115.2(DNAH11):c.12022T>C (p.Phe4008Leu)
|
rs781292736
|
|
NM_001277115.2(DNAH11):c.12052G>A (p.Val4018Ile)
|
rs578153138
|
|
NM_001277115.2(DNAH11):c.12085G>C (p.Asp4029His)
|
|
|
NM_001277115.2(DNAH11):c.12135T>C (p.Thr4045=)
|
rs2128038712
|
|
NM_001277115.2(DNAH11):c.12142C>T (p.Pro4048Ser)
|
rs1783575829
|
|
NM_001277115.2(DNAH11):c.12143C>G (p.Pro4048Arg)
|
|
|
NM_001277115.2(DNAH11):c.12160G>A (p.Ala4054Thr)
|
rs771068991
|
|
NM_001277115.2(DNAH11):c.12160G>C (p.Ala4054Pro)
|
|
|
NM_001277115.2(DNAH11):c.12164A>G (p.Asn4055Ser)
|
rs1202778028
|
|
NM_001277115.2(DNAH11):c.12166T>A (p.Leu4056Met)
|
rs2534056678
|
|
NM_001277115.2(DNAH11):c.12177C>G (p.Ala4059=)
|
rs2534056737
|
|
NM_001277115.2(DNAH11):c.12188T>G (p.Phe4063Cys)
|
rs1288167085
|
|
NM_001277115.2(DNAH11):c.12242T>G (p.Leu4081Arg)
|
rs1783890260
|
|
NM_001277115.2(DNAH11):c.12328C>T (p.Pro4110Ser)
|
rs200821339
|
|
NM_001277115.2(DNAH11):c.12329C>T (p.Pro4110Leu)
|
rs753983449
|
|
NM_001277115.2(DNAH11):c.12352A>G (p.Ser4118Gly)
|
rs1783899391
|
|
NM_001277115.2(DNAH11):c.12362A>C (p.Tyr4121Ser)
|
rs1381771115
|
|
NM_001277115.2(DNAH11):c.12373G>C (p.Glu4125Gln)
|
|
|
NM_001277115.2(DNAH11):c.12392C>T (p.Pro4131Leu)
|
|
|
NM_001277115.2(DNAH11):c.12393A>G (p.Pro4131=)
|
rs1448612961
|
|
NM_001277115.2(DNAH11):c.12421G>A (p.Glu4141Lys)
|
rs2534092990
|
|
NM_001277115.2(DNAH11):c.12475G>T (p.Val4159Leu)
|
rs771944678
|
|
NM_001277115.2(DNAH11):c.12562T>G (p.Tyr4188Asp)
|
|
|
NM_001277115.2(DNAH11):c.12566C>T (p.Ala4189Val)
|
rs1784359387
|
|
NM_001277115.2(DNAH11):c.12593T>G (p.Met4198Arg)
|
rs772179807
|
|
NM_001277115.2(DNAH11):c.1260G>T (p.Val420=)
|
rs1583489655
|
|
NM_001277115.2(DNAH11):c.12614C>T (p.Ala4205Val)
|
|
|
NM_001277115.2(DNAH11):c.12673C>G (p.Leu4225Val)
|
rs777887934
|
|
NM_001277115.2(DNAH11):c.12691G>A (p.Glu4231Lys)
|
|
|
NM_001277115.2(DNAH11):c.12711A>C (p.Ala4237=)
|
rs763598195
|
|
NM_001277115.2(DNAH11):c.12714C>T (p.Leu4238=)
|
rs1784366071
|
|
NM_001277115.2(DNAH11):c.12749A>C (p.Lys4250Thr)
|
|
|
NM_001277115.2(DNAH11):c.12804G>A (p.Met4268Ile)
|
rs1283821643
|
|
NM_001277115.2(DNAH11):c.12942G>T (p.Leu4314Phe)
|
rs2534131328
|
|
NM_001277115.2(DNAH11):c.12986A>T (p.Tyr4329Phe)
|
rs1562608827
|
|
NM_001277115.2(DNAH11):c.13070G>A (p.Arg4357Gln)
|
rs369549112
|
|
NM_001277115.2(DNAH11):c.13108C>A (p.Leu4370Ile)
|
rs746738432
|
|
NM_001277115.2(DNAH11):c.13113G>A (p.Pro4371=)
|
rs148707462
|
|
NM_001277115.2(DNAH11):c.13113G>C (p.Pro4371=)
|
rs148707462
|
|
NM_001277115.2(DNAH11):c.13119C>T (p.Val4373=)
|
rs774789390
|
|
NM_001277115.2(DNAH11):c.13120G>A (p.Val4374Met)
|
rs560018723
|
|
NM_001277115.2(DNAH11):c.1313G>C (p.Arg438Thr)
|
rs1246017758
|
|
NM_001277115.2(DNAH11):c.13176G>A (p.Thr4392=)
|
rs79449551
|
|
NM_001277115.2(DNAH11):c.13176G>T (p.Thr4392=)
|
rs79449551
|
|
NM_001277115.2(DNAH11):c.13211C>A (p.Thr4404Lys)
|
rs768366183
|
|
NM_001277115.2(DNAH11):c.13240dup (p.Thr4414fs)
|
rs759332741
|
|
NM_001277115.2(DNAH11):c.13261C>A (p.Pro4421Thr)
|
rs369210437
|
|
NM_001277115.2(DNAH11):c.13263G>A (p.Pro4421=)
|
rs72658834
|
|
NM_001277115.2(DNAH11):c.13303G>T (p.Gly4435Cys)
|
rs1044815255
|
|
NM_001277115.2(DNAH11):c.13325C>T (p.Ala4442Val)
|
|
|
NM_001277115.2(DNAH11):c.13331C>G (p.Thr4444Ser)
|
rs370940025
|
|
NM_001277115.2(DNAH11):c.13342G>A (p.Ala4448Thr)
|
rs2534163762
|
|
NM_001277115.2(DNAH11):c.13345C>T (p.Arg4449Cys)
|
rs751222708
|
|
NM_001277115.2(DNAH11):c.13373C>G (p.Pro4458Arg)
|
rs72658835
|
|
NM_001277115.2(DNAH11):c.13374G>A (p.Pro4458=)
|
rs201444942
|
|
NM_001277115.2(DNAH11):c.13374G>C (p.Pro4458=)
|
rs201444942
|
|
NM_001277115.2(DNAH11):c.13425C>T (p.Thr4475=)
|
rs187353983
|
|
NM_001277115.2(DNAH11):c.13439T>C (p.Val4480Ala)
|
rs2534165333
|
|
NM_001277115.2(DNAH11):c.13484G>A (p.Arg4495Lys)
|
|
|
NM_001277115.2(DNAH11):c.13537C>A (p.Leu4513Ile)
|
rs2534166875
|
|
NM_001277115.2(DNAH11):c.1366C>G (p.Gln456Glu)
|
rs1345508201
|
|
NM_001277115.2(DNAH11):c.136G>C (p.Ala46Pro)
|
rs918116615
|
|
NM_001277115.2(DNAH11):c.1372C>T (p.His458Tyr)
|
rs1783831610
|
|
NM_001277115.2(DNAH11):c.1408C>A (p.Arg470Ser)
|
rs374144841
|
|
NM_001277115.2(DNAH11):c.1423G>C (p.Glu475Gln)
|
|
|
NM_001277115.2(DNAH11):c.1433T>C (p.Phe478Ser)
|
rs2534526532
|
|
NM_001277115.2(DNAH11):c.1572C>A (p.Asp524Glu)
|
|
|
NM_001277115.2(DNAH11):c.1579G>A (p.Asp527Asn)
|
rs1783909176
|
|
NM_001277115.2(DNAH11):c.1643A>T (p.Asp548Val)
|
rs374191991
|
|
NM_001277115.2(DNAH11):c.1663A>T (p.Ile555Phe)
|
rs754235416
|
|
NM_001277115.2(DNAH11):c.1692C>G (p.Gly564=)
|
rs751008165
|
|
NM_001277115.2(DNAH11):c.170C>G (p.Ala57Gly)
|
rs2534409960
|
|
NM_001277115.2(DNAH11):c.1778G>A (p.Ser593Asn)
|
rs754774362
|
|
NM_001277115.2(DNAH11):c.1839C>G (p.His613Gln)
|
rs1784540612
|
|
NM_001277115.2(DNAH11):c.1850T>C (p.Ile617Thr)
|
rs2534585575
|
|
NM_001277115.2(DNAH11):c.1862A>G (p.His621Arg)
|
|
|
NM_001277115.2(DNAH11):c.1882A>G (p.Met628Val)
|
|
|
NM_001277115.2(DNAH11):c.1916A>T (p.Gln639Leu)
|
rs12670130
|
|
NM_001277115.2(DNAH11):c.1949C>T (p.Ser650Leu)
|
rs755002843
|
|
NM_001277115.2(DNAH11):c.194G>A (p.Arg65His)
|
|
|
NM_001277115.2(DNAH11):c.2033T>C (p.Leu678Ser)
|
rs1784591318
|
|
NM_001277115.2(DNAH11):c.2046T>A (p.Phe682Leu)
|
rs2534589163
|
|
NM_001277115.2(DNAH11):c.2053C>T (p.Arg685Cys)
|
rs754405810
|
|
NM_001277115.2(DNAH11):c.2111A>T (p.Gln704Leu)
|
rs377725666
|
|
NM_001277115.2(DNAH11):c.2129G>T (p.Ser710Ile)
|
|
|
NM_001277115.2(DNAH11):c.2156A>T (p.Asn719Ile)
|
rs551038953
|
|
NM_001277115.2(DNAH11):c.2176G>T (p.Ala726Ser)
|
|
|
NM_001277115.2(DNAH11):c.2186G>A (p.Arg729Lys)
|
rs2534596144
|
|
NM_001277115.2(DNAH11):c.2231A>G (p.Asp744Gly)
|
rs772412152
|
|
NM_001277115.2(DNAH11):c.2267T>C (p.Ile756Thr)
|
|
|
NM_001277115.2(DNAH11):c.2274+1del
|
rs2534596587
|
|
NM_001277115.2(DNAH11):c.2290G>A (p.Asp764Asn)
|
|
|
NM_001277115.2(DNAH11):c.2292C>G (p.Asp764Glu)
|
rs767104873
|
|
NM_001277115.2(DNAH11):c.2293C>T (p.Leu765Phe)
|
rs2534597649
|
|
NM_001277115.2(DNAH11):c.2303A>G (p.Gln768Arg)
|
rs1784666401
|
|
NM_001277115.2(DNAH11):c.2354T>C (p.Ile785Thr)
|
rs749673513
|
|
NM_001277115.2(DNAH11):c.236A>T (p.Gln79Leu)
|
|
|
NM_001277115.2(DNAH11):c.2371G>A (p.Ala791Thr)
|
|
|
NM_001277115.2(DNAH11):c.2374A>C (p.Ile792Leu)
|
rs762314534
|
|
NM_001277115.2(DNAH11):c.2413T>C (p.Trp805Arg)
|
|
|
NM_001277115.2(DNAH11):c.2487C>T (p.Arg829=)
|
|
|
NM_001277115.2(DNAH11):c.2524A>G (p.Arg842Gly)
|
rs72655997
|
|
NM_001277115.2(DNAH11):c.2528G>A (p.Gly843Asp)
|
rs774110249
|
|
NM_001277115.2(DNAH11):c.253G>A (p.Asp85Asn)
|
rs2534410392
|
|
NM_001277115.2(DNAH11):c.2578G>T (p.Ala860Ser)
|
rs1171160143
|
|
NM_001277115.2(DNAH11):c.25G>A (p.Glu9Lys)
|
|
|
NM_001277115.2(DNAH11):c.2600G>T (p.Gly867Val)
|
rs1307428257
|
|
NM_001277115.2(DNAH11):c.2657A>G (p.Asn886Ser)
|
rs375268953
|
|
NM_001277115.2(DNAH11):c.2661G>T (p.Leu887Phe)
|
|
|
NM_001277115.2(DNAH11):c.2703G>C (p.Leu901=)
|
rs753367919
|
|
NM_001277115.2(DNAH11):c.2732T>A (p.Ile911Asn)
|
rs746755614
|
|
NM_001277115.2(DNAH11):c.2769A>G (p.Ile923Met)
|
rs1583516086
|
|
NM_001277115.2(DNAH11):c.2774A>T (p.His925Leu)
|
rs759163666
|
|
NM_001277115.2(DNAH11):c.2782G>A (p.Asp928Asn)
|
rs2534627779
|
|
NM_001277115.2(DNAH11):c.2794A>G (p.Lys932Glu)
|
|
|
NM_001277115.2(DNAH11):c.2795A>T (p.Lys932Met)
|
rs997071145
|
|
NM_001277115.2(DNAH11):c.2798A>T (p.Asn933Ile)
|
rs749572732
|
|
NM_001277115.2(DNAH11):c.280C>A (p.Leu94Met)
|
|
|
NM_001277115.2(DNAH11):c.2836G>A (p.Ala946Thr)
|
|
|
NM_001277115.2(DNAH11):c.2841A>T (p.Gln947His)
|
rs1162778746
|
|
NM_001277115.2(DNAH11):c.2890G>A (p.Glu964Lys)
|
rs1785014554
|
|
NM_001277115.2(DNAH11):c.2927T>C (p.Met976Thr)
|
|
|
NM_001277115.2(DNAH11):c.2931dup (p.Cys978fs)
|
rs1446965214
|
|
NM_001277115.2(DNAH11):c.2947A>C (p.Met983Leu)
|
rs563145818
|
|
NM_001277115.2(DNAH11):c.2947A>T (p.Met983Leu)
|
|
|
NM_001277115.2(DNAH11):c.2968A>C (p.Ile990Leu)
|
rs1236592830
|
|
NM_001277115.2(DNAH11):c.2974A>G (p.Thr992Ala)
|
rs757068316
|
|
NM_001277115.2(DNAH11):c.2975C>T (p.Thr992Ile)
|
rs777972960
|
|
NM_001277115.2(DNAH11):c.3098C>A (p.Thr1033Asn)
|
|
|
NM_001277115.2(DNAH11):c.3111C>T (p.His1037=)
|
|
|
NM_001277115.2(DNAH11):c.3112_3113inv (p.Thr1038Val)
|
|
|
NM_001277115.2(DNAH11):c.3131A>G (p.Asp1044Gly)
|
|
|
NM_001277115.2(DNAH11):c.3141G>C (p.Glu1047Asp)
|
rs1049088648
|
|
NM_001277115.2(DNAH11):c.3182C>A (p.Ser1061Tyr)
|
rs367665090
|
|
NM_001277115.2(DNAH11):c.3191T>C (p.Met1064Thr)
|
|
|
NM_001277115.2(DNAH11):c.32G>A (p.Arg11Gln)
|
rs1471867391
|
|
NM_001277115.2(DNAH11):c.3343C>A (p.Pro1115Thr)
|
rs772893360
|
|
NM_001277115.2(DNAH11):c.3435G>A (p.Glu1145=)
|
rs1349828360
|
|
NM_001277115.2(DNAH11):c.3443A>G (p.Glu1148Gly)
|
rs2534635339
|
|
NM_001277115.2(DNAH11):c.346C>T (p.Gln116Ter)
|
rs374802008
|
|
NM_001277115.2(DNAH11):c.3491G>A (p.Gly1164Asp)
|
rs781520837
|
|
NM_001277115.2(DNAH11):c.3524A>G (p.His1175Arg)
|
rs939009364
|
|
NM_001277115.2(DNAH11):c.3545G>C (p.Arg1182Pro)
|
|
|
NM_001277115.2(DNAH11):c.3549G>C (p.Gln1183His)
|
|
|
NM_001277115.2(DNAH11):c.3557C>T (p.Thr1186Ile)
|
rs757753783
|
|
NM_001277115.2(DNAH11):c.3574C>T (p.Pro1192Ser)
|
|
|
NM_001277115.2(DNAH11):c.3588G>T (p.Thr1196=)
|
rs375767160
|
|
NM_001277115.2(DNAH11):c.3593C>G (p.Thr1198Ser)
|
rs2534636570
|
|
NM_001277115.2(DNAH11):c.3597C>T (p.Leu1199=)
|
rs1785090298
|
|
NM_001277115.2(DNAH11):c.3648+3A>G
|
rs2534637298
|
|
NM_001277115.2(DNAH11):c.3682A>G (p.Ile1228Val)
|
rs889893369
|
|
NM_001277115.2(DNAH11):c.3685G>A (p.Ala1229Thr)
|
rs150717084
|
|
NM_001277115.2(DNAH11):c.3767C>T (p.Ala1256Val)
|
rs2534654988
|
|
NM_001277115.2(DNAH11):c.3782T>G (p.Phe1261Cys)
|
|
|
NM_001277115.2(DNAH11):c.3789G>C (p.Glu1263Asp)
|
rs1226938046
|
|
NM_001277115.2(DNAH11):c.3800A>G (p.His1267Arg)
|
rs2534655157
|
|
NM_001277115.2(DNAH11):c.3853-5C>T
|
rs367628980
|
|
NM_001277115.2(DNAH11):c.3898C>A (p.Gln1300Lys)
|
rs375160708
|
|
NM_001277115.2(DNAH11):c.3898_3906delinsG (p.Gln1300fs)
|
rs2534689583
|
|
NM_001277115.2(DNAH11):c.3935A>G (p.Glu1312Gly)
|
rs1235025695
|
|
NM_001277115.2(DNAH11):c.3969A>G (p.Ile1323Met)
|
rs779250701
|
|
NM_001277115.2(DNAH11):c.4041G>T (p.Gln1347His)
|
|
|
NM_001277115.2(DNAH11):c.4057G>A (p.Val1353Met)
|
rs2534693811
|
|
NM_001277115.2(DNAH11):c.4070A>G (p.Asp1357Gly)
|
|
|
NM_001277115.2(DNAH11):c.4083_4085del (p.Arg1362del)
|
rs755391243
|
|
NM_001277115.2(DNAH11):c.4095+2C>A
|
rs532007878
|
|
NM_001277115.2(DNAH11):c.4114A>C (p.Lys1372Gln)
|
|
|
NM_001277115.2(DNAH11):c.4120G>T (p.Val1374Phe)
|
|
|
NM_001277115.2(DNAH11):c.4125C>A (p.Arg1375=)
|
rs570983771
|
|
NM_001277115.2(DNAH11):c.4173A>G (p.Thr1391=)
|
|
|
NM_001277115.2(DNAH11):c.4189A>C (p.Ile1397Leu)
|
|
|
NM_001277115.2(DNAH11):c.4193C>T (p.Thr1398Ile)
|
rs757118279
|
|
NM_001277115.2(DNAH11):c.4233C>G (p.His1411Gln)
|
rs773424828
|
|
NM_001277115.2(DNAH11):c.4259A>C (p.Lys1420Thr)
|
rs2534706881
|
|
NM_001277115.2(DNAH11):c.4273G>A (p.Glu1425Lys)
|
rs1448862370
|
|
NM_001277115.2(DNAH11):c.4295T>C (p.Leu1432Ser)
|
|
|
NM_001277115.2(DNAH11):c.4337G>C (p.Arg1446Thr)
|
rs1021905098
|
|
NM_001277115.2(DNAH11):c.4378-17_4378-16insATTTA
|
rs57952953
|
|
NM_001277115.2(DNAH11):c.4384A>T (p.Thr1462Ser)
|
|
|
NM_001277115.2(DNAH11):c.4385C>T (p.Thr1462Ile)
|
rs1785963511
|
|
NM_001277115.2(DNAH11):c.4395_4398del (p.Ser1465fs)
|
rs761764078
|
|
NM_001277115.2(DNAH11):c.4425C>A (p.Tyr1475Ter)
|
rs373706559
|
|
NM_001277115.2(DNAH11):c.4450C>G (p.Pro1484Ala)
|
rs769397725
|
|
NM_001277115.2(DNAH11):c.4504C>T (p.Gln1502Ter)
|
rs774689207
|
|
NM_001277115.2(DNAH11):c.4529A>T (p.Lys1510Met)
|
rs753342468
|
|
NM_001277115.2(DNAH11):c.4552C>T (p.Gln1518Ter)
|
rs369681389
|
|
NM_001277115.2(DNAH11):c.4554A>C (p.Gln1518His)
|
|
|
NM_001277115.2(DNAH11):c.4570A>C (p.Asn1524His)
|
rs2534772076
|
|
NM_001277115.2(DNAH11):c.4599C>T (p.Ile1533=)
|
rs1031903018
|
|
NM_001277115.2(DNAH11):c.4644C>T (p.Ser1548=)
|
rs375661112
|
|
NM_001277115.2(DNAH11):c.4655G>C (p.Cys1552Ser)
|
|
|
NM_001277115.2(DNAH11):c.4689T>C (p.Asp1563=)
|
rs2534772497
|
|
NM_001277115.2(DNAH11):c.4691C>G (p.Ala1564Gly)
|
|
|
NM_001277115.2(DNAH11):c.4725+5G>A
|
rs2534772673
|
|
NM_001277115.2(DNAH11):c.4760T>C (p.Val1587Ala)
|
rs758562003
|
|
NM_001277115.2(DNAH11):c.4785T>G (p.Asn1595Lys)
|
rs770148208
|
|
NM_001277115.2(DNAH11):c.4788C>T (p.Leu1596=)
|
|
|
NM_001277115.2(DNAH11):c.4799T>G (p.Leu1600Arg)
|
|
|
NM_001277115.2(DNAH11):c.4804G>A (p.Asp1602Asn)
|
rs1301123028
|
|
NM_001277115.2(DNAH11):c.4816A>G (p.Arg1606Gly)
|
rs531592483
|
|
NM_001277115.2(DNAH11):c.4817+1_4817+16del
|
rs2534777695
|
|
NM_001277115.2(DNAH11):c.482C>T (p.Ala161Val)
|
rs775398020
|
|
NM_001277115.2(DNAH11):c.4945-5T>G
|
rs886038468
|
|
NM_001277115.2(DNAH11):c.495+1G>T
|
rs377623604
|
|
NM_001277115.2(DNAH11):c.4964A>T (p.Lys1655Ile)
|
rs371049362
|
|
NM_001277115.2(DNAH11):c.5000A>G (p.Asp1667Gly)
|
|
|
NM_001277115.2(DNAH11):c.5009A>T (p.Asp1670Val)
|
rs368565591
|
|
NM_001277115.2(DNAH11):c.5062C>G (p.Pro1688Ala)
|
|
|
NM_001277115.2(DNAH11):c.5068C>A (p.Gln1690Lys)
|
rs1254903583
|
|
NM_001277115.2(DNAH11):c.5139G>C (p.Thr1713=)
|
rs758984750
|
|
NM_001277115.2(DNAH11):c.5140G>T (p.Val1714Leu)
|
|
|
NM_001277115.2(DNAH11):c.514T>G (p.Ser172Ala)
|
rs1337921591
|
|
NM_001277115.2(DNAH11):c.5157A>C (p.Thr1719=)
|
rs149538783
|
|
NM_001277115.2(DNAH11):c.5163_5164insCAGCC (p.Ile1722fs)
|
|
|
NM_001277115.2(DNAH11):c.5230A>C (p.Thr1744Pro)
|
rs2534839412
|
|
NM_001277115.2(DNAH11):c.5252C>T (p.Thr1751Ile)
|
rs1421235516
|
|
NM_001277115.2(DNAH11):c.5255C>T (p.Thr1752Ile)
|
|
|
NM_001277115.2(DNAH11):c.5258A>G (p.Asp1753Gly)
|
rs916862604
|
|
NM_001277115.2(DNAH11):c.5259T>G (p.Asp1753Glu)
|
rs765453467
|
|
NM_001277115.2(DNAH11):c.529C>G (p.His177Asp)
|
rs752016007
|
|
NM_001277115.2(DNAH11):c.5336_5337delinsCC (p.Gln1779Pro)
|
rs2534899870
|
|
NM_001277115.2(DNAH11):c.5427C>T (p.Ala1809=)
|
rs372177670
|
|
NM_001277115.2(DNAH11):c.5483C>T (p.Thr1828Ile)
|
|
|
NM_001277115.2(DNAH11):c.5498T>G (p.Leu1833Arg)
|
|
|
NM_001277115.2(DNAH11):c.5529C>A (p.His1843Gln)
|
|
|
NM_001277115.2(DNAH11):c.5534T>C (p.Phe1845Ser)
|
|
|
NM_001277115.2(DNAH11):c.5573A>C (p.Glu1858Ala)
|
rs2534906794
|
|
NM_001277115.2(DNAH11):c.55C>T (p.Leu19Phe)
|
rs2534409005
|
|
NM_001277115.2(DNAH11):c.5605A>C (p.Thr1869Pro)
|
rs1783253288
|
|
NM_001277115.2(DNAH11):c.5633C>T (p.Thr1878Ile)
|
rs1449566001
|
|
NM_001277115.2(DNAH11):c.5634C>A (p.Thr1878=)
|
rs1200515144
|
|
NM_001277115.2(DNAH11):c.563T>G (p.Met188Arg)
|
rs768697972
|
|
NM_001277115.2(DNAH11):c.5675C>T (p.Ala1892Val)
|
rs534484091
|
|
NM_001277115.2(DNAH11):c.5683G>T (p.Ala1895Ser)
|
rs759008375
|
|
NM_001277115.2(DNAH11):c.5692G>A (p.Gly1898Arg)
|
rs767246053
|
|
NM_001277115.2(DNAH11):c.5710A>G (p.Lys1904Glu)
|
|
|
NM_001277115.2(DNAH11):c.5767A>C (p.Met1923Leu)
|
|
|
NM_001277115.2(DNAH11):c.5795A>C (p.Tyr1932Ser)
|
rs375442328
|
|
NM_001277115.2(DNAH11):c.5795A>G (p.Tyr1932Cys)
|
|
|
NM_001277115.2(DNAH11):c.5799G>T (p.Lys1933Asn)
|
|
|
NM_001277115.2(DNAH11):c.5845C>T (p.Arg1949Ter)
|
rs372143147
|
|
NM_001277115.2(DNAH11):c.5863C>G (p.Leu1955Val)
|
rs549960437
|
|
NM_001277115.2(DNAH11):c.5885T>C (p.Val1962Ala)
|
rs1583594660
|
|
NM_001277115.2(DNAH11):c.5944G>A (p.Ala1982Thr)
|
rs2534929205
|
|
NM_001277115.2(DNAH11):c.5947A>G (p.Ile1983Val)
|
rs536513593
|
|
NM_001277115.2(DNAH11):c.5974T>C (p.Phe1992Leu)
|
rs776830736
|
|
NM_001277115.2(DNAH11):c.5984T>C (p.Met1995Thr)
|
rs1465555535
|
|
NM_001277115.2(DNAH11):c.6007A>G (p.Thr2003Ala)
|
|
|
NM_001277115.2(DNAH11):c.6061C>G (p.Pro2021Ala)
|
rs1449033217
|
|
NM_001277115.2(DNAH11):c.6073C>G (p.Leu2025Val)
|
rs368561050
|
|
NM_001277115.2(DNAH11):c.6078C>G (p.Ile2026Met)
|
rs769000578
|
|
NM_001277115.2(DNAH11):c.608G>A (p.Arg203Lys)
|
rs1783328562
|
|
NM_001277115.2(DNAH11):c.6119G>A (p.Arg2040His)
|
rs751779702
|
|
NM_001277115.2(DNAH11):c.6121G>T (p.Ala2041Ser)
|
rs1440723245
|
|
NM_001277115.2(DNAH11):c.6170T>C (p.Leu2057Pro)
|
rs777354329
|
|
NM_001277115.2(DNAH11):c.6183T>A (p.Asp2061Glu)
|
rs1784115914
|
|
NM_001277115.2(DNAH11):c.6210T>G (p.Ile2070Met)
|
rs773630976
|
|
NM_001277115.2(DNAH11):c.6229G>C (p.Ala2077Pro)
|
rs1784118132
|
|
NM_001277115.2(DNAH11):c.622A>G (p.Arg208Gly)
|
rs1364128150
|
|
NM_001277115.2(DNAH11):c.6245G>C (p.Arg2082Pro)
|
rs563280837
|
|
NM_001277115.2(DNAH11):c.6279C>A (p.Leu2093=)
|
rs1192869606
|
|
NM_001277115.2(DNAH11):c.6296A>G (p.Asp2099Gly)
|
|
|
NM_001277115.2(DNAH11):c.6339T>A (p.Phe2113Leu)
|
rs1583610498
|
|
NM_001277115.2(DNAH11):c.6360G>A (p.Leu2120=)
|
rs1784189630
|
|
NM_001277115.2(DNAH11):c.6380C>T (p.Pro2127Leu)
|
rs368090876
|
|
NM_001277115.2(DNAH11):c.6409A>G (p.Met2137Val)
|
rs1562499077
|
|
NM_001277115.2(DNAH11):c.6437G>A (p.Arg2146His)
|
rs727505321
|
|
NM_001277115.2(DNAH11):c.6467A>G (p.Lys2156Arg)
|
rs1784195775
|
|
NM_001277115.2(DNAH11):c.649G>A (p.Val217Ile)
|
rs1783331179
|
|
NM_001277115.2(DNAH11):c.6518T>C (p.Val2173Ala)
|
rs2534970653
|
|
NM_001277115.2(DNAH11):c.6534A>G (p.Thr2178=)
|
rs1248330170
|
|
NM_001277115.2(DNAH11):c.6594G>A (p.Pro2198=)
|
rs200894470
|
|
NM_001277115.2(DNAH11):c.6605A>T (p.Asp2202Val)
|
rs2534976872
|
|
NM_001277115.2(DNAH11):c.6676G>C (p.Asp2226His)
|
rs2534977226
|
|
NM_001277115.2(DNAH11):c.6683+2T>A
|
rs2534977300
|
|
NM_001277115.2(DNAH11):c.6698A>G (p.Tyr2233Cys)
|
rs182160568
|
|
NM_001277115.2(DNAH11):c.6703A>G (p.Ile2235Val)
|
|
|
NM_001277115.2(DNAH11):c.6709C>G (p.Leu2237Val)
|
rs370225380
|
|
NM_001277115.2(DNAH11):c.6780C>G (p.Gly2260=)
|
rs377115580
|
|
NM_001277115.2(DNAH11):c.6793A>T (p.Met2265Leu)
|
rs368383022
|
|
NM_001277115.2(DNAH11):c.680G>C (p.Cys227Ser)
|
rs140085329
|
|
NM_001277115.2(DNAH11):c.6812A>G (p.Asn2271Ser)
|
rs2534986697
|
|
NM_001277115.2(DNAH11):c.6832A>C (p.Lys2278Gln)
|
|
|
NM_001277115.2(DNAH11):c.6853A>G (p.Asn2285Asp)
|
rs2534990562
|
|
NM_001277115.2(DNAH11):c.6898A>G (p.Ile2300Val)
|
rs767273694
|
|
NM_001277115.2(DNAH11):c.6902A>T (p.His2301Leu)
|
|
|
NM_001277115.2(DNAH11):c.6955G>A (p.Val2319Met)
|
|
|
NM_001277115.2(DNAH11):c.7005C>A (p.Asp2335Glu)
|
rs1784721850
|
|
NM_001277115.2(DNAH11):c.7042A>G (p.Ile2348Val)
|
|
|
NM_001277115.2(DNAH11):c.7048T>C (p.Phe2350Leu)
|
rs780882494
|
|
NM_001277115.2(DNAH11):c.7057T>C (p.Tyr2353His)
|
rs2535009022
|
|
NM_001277115.2(DNAH11):c.7068A>G (p.Ala2356=)
|
rs773805632
|
|
NM_001277115.2(DNAH11):c.7105A>G (p.Thr2369Ala)
|
rs2128482984
|
|
NM_001277115.2(DNAH11):c.7126C>G (p.Leu2376Val)
|
rs549049467
|
|
NM_001277115.2(DNAH11):c.7140_7141del (p.Val2382fs)
|
rs878854445
|
|
NM_001277115.2(DNAH11):c.715A>G (p.Ile239Val)
|
rs981629773
|
|
NM_001277115.2(DNAH11):c.7191C>G (p.Ser2397Arg)
|
|
|
NM_001277115.2(DNAH11):c.7207G>A (p.Glu2403Lys)
|
|
|
NM_001277115.2(DNAH11):c.7240T>G (p.Phe2414Val)
|
rs1415224732
|
|
NM_001277115.2(DNAH11):c.7255C>G (p.Leu2419Val)
|
rs2535018549
|
|
NM_001277115.2(DNAH11):c.7258C>A (p.Gln2420Lys)
|
rs1207409225
|
|
NM_001277115.2(DNAH11):c.7279C>A (p.Gln2427Lys)
|
|
|
NM_001277115.2(DNAH11):c.7286A>G (p.Asp2429Gly)
|
rs1785074601
|
|
NM_001277115.2(DNAH11):c.728T>C (p.Ile243Thr)
|
rs750214113
|
|
NM_001277115.2(DNAH11):c.7333T>C (p.Ser2445Pro)
|
rs2535042293
|
|
NM_001277115.2(DNAH11):c.734C>G (p.Ser245Cys)
|
|
|
NM_001277115.2(DNAH11):c.7351G>A (p.Asp2451Asn)
|
rs998505687
|
|
NM_001277115.2(DNAH11):c.739G>T (p.Val247Phe)
|
|
|
NM_001277115.2(DNAH11):c.7406C>G (p.Ala2469Gly)
|
|
|
NM_001277115.2(DNAH11):c.7406C>T (p.Ala2469Val)
|
|
|
NM_001277115.2(DNAH11):c.7422T>A (p.Asp2474Glu)
|
rs1785085519
|
|
NM_001277115.2(DNAH11):c.7454A>G (p.His2485Arg)
|
rs2535083221
|
|
NM_001277115.2(DNAH11):c.7472G>A (p.Arg2491His)
|
rs369438218
|
|
NM_001277115.2(DNAH11):c.7570T>A (p.Leu2524Met)
|
rs2072220
|
|
NM_001277115.2(DNAH11):c.7577G>A (p.Ser2526Asn)
|
|
|
NM_001277115.2(DNAH11):c.7581C>T (p.Leu2527=)
|
rs753465818
|
|
NM_001277115.2(DNAH11):c.7585G>C (p.Glu2529Gln)
|
rs2535083777
|
|
NM_001277115.2(DNAH11):c.7610C>T (p.Pro2537Leu)
|
rs1224992389
|
|
NM_001277115.2(DNAH11):c.7636G>A (p.Ala2546Thr)
|
rs764813626
|
|
NM_001277115.2(DNAH11):c.7678G>A (p.Gly2560Ser)
|
|
|
NM_001277115.2(DNAH11):c.7729G>A (p.Asp2577Asn)
|
rs770532527
|
|
NM_001277115.2(DNAH11):c.7734G>T (p.Met2578Ile)
|
|
|
NM_001277115.2(DNAH11):c.7749G>C (p.Val2583=)
|
rs1785736786
|
|
NM_001277115.2(DNAH11):c.7758T>C (p.Tyr2586=)
|
rs766226365
|
|
NM_001277115.2(DNAH11):c.7812-2A>G
|
rs1166463469
|
|
NM_001277115.2(DNAH11):c.7873A>T (p.Asn2625Tyr)
|
rs2535099417
|
|
NM_001277115.2(DNAH11):c.7946C>T (p.Pro2649Leu)
|
rs1785919312
|
|
NM_001277115.2(DNAH11):c.7956T>A (p.Asp2652Glu)
|
rs2535107389
|
|
NM_001277115.2(DNAH11):c.8028C>T (p.Leu2676=)
|
rs2535107859
|
|
NM_001277115.2(DNAH11):c.8029A>G (p.Arg2677Gly)
|
|
|
NM_001277115.2(DNAH11):c.8039C>G (p.Pro2680Arg)
|
rs1785926972
|
|
NM_001277115.2(DNAH11):c.8071C>A (p.Gln2691Lys)
|
rs1471536262
|
|
NM_001277115.2(DNAH11):c.8143A>G (p.Asn2715Asp)
|
rs549585242
|
|
NM_001277115.2(DNAH11):c.8177A>G (p.Glu2726Gly)
|
rs1786054372
|
|
NM_001277115.2(DNAH11):c.8184A>C (p.Leu2728Phe)
|
rs374924146
|
|
NM_001277115.2(DNAH11):c.8239G>A (p.Gly2747Arg)
|
|
|
NM_001277115.2(DNAH11):c.8260A>G (p.Lys2754Glu)
|
rs2535117108
|
|
NM_001277115.2(DNAH11):c.827C>A (p.Ala276Glu)
|
rs2534464590
|
|
NM_001277115.2(DNAH11):c.8318G>A (p.Gly2773Asp)
|
rs201180532
|
|
NM_001277115.2(DNAH11):c.8355T>G (p.Ile2785Met)
|
|
|
NM_001277115.2(DNAH11):c.8396T>C (p.Met2799Thr)
|
|
|
NM_001277115.2(DNAH11):c.8496T>G (p.Asp2832Glu)
|
rs765719241
|
|
NM_001277115.2(DNAH11):c.8502G>A (p.Met2834Ile)
|
|
|
NM_001277115.2(DNAH11):c.8539C>G (p.Pro2847Ala)
|
rs1374736886
|
|
NM_001277115.2(DNAH11):c.8558T>C (p.Leu2853Ser)
|
rs1053893041
|
|
NM_001277115.2(DNAH11):c.8614C>T (p.Arg2872Cys)
|
rs760273596
|
|
NM_001277115.2(DNAH11):c.861T>A (p.Asn287Lys)
|
rs748907119
|
|
NM_001277115.2(DNAH11):c.8623G>C (p.Glu2875Gln)
|
rs2535130926
|
|
NM_001277115.2(DNAH11):c.8667A>T (p.Glu2889Asp)
|
rs1786272704
|
|
NM_001277115.2(DNAH11):c.8705G>C (p.Gly2902Ala)
|
rs2535134614
|
|
NM_001277115.2(DNAH11):c.870C>T (p.Cys290=)
|
rs1157677299
|
|
NM_001277115.2(DNAH11):c.8761A>G (p.Ser2921Gly)
|
|
|
NM_001277115.2(DNAH11):c.8773C>G (p.Leu2925Val)
|
|
|
NM_001277115.2(DNAH11):c.8782G>A (p.Asp2928Asn)
|
rs768758217
|
|
NM_001277115.2(DNAH11):c.8809G>A (p.Asp2937Asn)
|
rs538735006
|
|
NM_001277115.2(DNAH11):c.8821G>A (p.Asp2941Asn)
|
rs776368544
|
|
NM_001277115.2(DNAH11):c.8863G>T (p.Val2955Phe)
|
|
|
NM_001277115.2(DNAH11):c.8866C>T (p.His2956Tyr)
|
rs2535137235
|
|
NM_001277115.2(DNAH11):c.8935C>T (p.Leu2979Phe)
|
|
|
NM_001277115.2(DNAH11):c.893C>T (p.Pro298Leu)
|
|
|
NM_001277115.2(DNAH11):c.8940+1G>T
|
rs2535137725
|
|
NM_001277115.2(DNAH11):c.8949G>C (p.Leu2983Phe)
|
|
|
NM_001277115.2(DNAH11):c.8968C>T (p.Arg2990Cys)
|
|
|
NM_001277115.2(DNAH11):c.9044C>T (p.Pro3015Leu)
|
rs749849152
|
|
NM_001277115.2(DNAH11):c.9079A>T (p.Ile3027Phe)
|
|
|
NM_001277115.2(DNAH11):c.9103C>T (p.Pro3035Ser)
|
|
|
NM_001277115.2(DNAH11):c.9104C>A (p.Pro3035Gln)
|
|
|
NM_001277115.2(DNAH11):c.9121A>G (p.Ile3041Val)
|
rs755550337
|
|
NM_001277115.2(DNAH11):c.9139C>T (p.His3047Tyr)
|
rs1159816817
|
|
NM_001277115.2(DNAH11):c.9173G>C (p.Arg3058Thr)
|
rs770558724
|
|
NM_001277115.2(DNAH11):c.9183G>T (p.Gln3061His)
|
rs1787544199
|
|
NM_001277115.2(DNAH11):c.9185A>G (p.Asn3062Ser)
|
rs2535217810
|
|
NM_001277115.2(DNAH11):c.9203A>C (p.Tyr3068Ser)
|
|
|
NM_001277115.2(DNAH11):c.9218G>T (p.Ser3073Ile)
|
rs766622461
|
|
NM_001277115.2(DNAH11):c.9228del (p.Glu3076fs)
|
rs2535218090
|
|
NM_001277115.2(DNAH11):c.9243del (p.Phe3081fs)
|
rs2535218168
|
|
NM_001277115.2(DNAH11):c.9245A>G (p.Lys3082Arg)
|
|
|
NM_001277115.2(DNAH11):c.9250C>G (p.Leu3084Val)
|
rs566490774
|
|
NM_001277115.2(DNAH11):c.9259A>G (p.Lys3087Glu)
|
rs2535218235
|
|
NM_001277115.2(DNAH11):c.926C>A (p.Thr309Asn)
|
rs1430611264
|
|
NM_001277115.2(DNAH11):c.9345T>C (p.Asp3115=)
|
rs771886434
|
|
NM_001277115.2(DNAH11):c.93C>T (p.Gly31=)
|
rs1219460682
|
|
NM_001277115.2(DNAH11):c.9402C>G (p.Ala3134=)
|
rs148800414
|
|
NM_001277115.2(DNAH11):c.941A>C (p.Tyr314Ser)
|
|
|
NM_001277115.2(DNAH11):c.9430C>T (p.Gln3144Ter)
|
rs1428188386
|
|
NM_001277115.2(DNAH11):c.9434C>A (p.Thr3145Lys)
|
rs185195859
|
|
NM_001277115.2(DNAH11):c.9478C>G (p.Arg3160Gly)
|
rs1787819788
|
|
NM_001277115.2(DNAH11):c.9484G>A (p.Val3162Met)
|
rs761864384
|
|
NM_001277115.2(DNAH11):c.9542T>A (p.Leu3181His)
|
rs747056886
|
|
NM_001277115.2(DNAH11):c.9560_9561insAGTT (p.Ala3189fs)
|
rs2535252563
|
|
NM_001277115.2(DNAH11):c.9602A>G (p.Asn3201Ser)
|
rs762025592
|
|
NM_001277115.2(DNAH11):c.9627C>G (p.Pro3209=)
|
rs200256329
|
|
NM_001277115.2(DNAH11):c.9659C>T (p.Ala3220Val)
|
rs1388484044
|
|
NM_001277115.2(DNAH11):c.9664G>A (p.Val3222Met)
|
rs535546772
|
|
NM_001277115.2(DNAH11):c.966dup (p.Leu323fs)
|
rs1462707634
|
|
NM_001277115.2(DNAH11):c.9676C>G (p.Leu3226Val)
|
rs1788210081
|
|
NM_001277115.2(DNAH11):c.9752T>C (p.Phe3251Ser)
|
|
|
NM_001277115.2(DNAH11):c.9766A>G (p.Ile3256Val)
|
rs1188195580
|
|
NM_001277115.2(DNAH11):c.9779A>G (p.Lys3260Arg)
|
rs2535262711
|
|
NM_001277115.2(DNAH11):c.977A>T (p.Glu326Val)
|
rs2534483545
|
|
NM_001277115.2(DNAH11):c.9790C>G (p.Pro3264Ala)
|
rs571709285
|
|
NM_001277115.2(DNAH11):c.9790C>T (p.Pro3264Ser)
|
rs571709285
|
|
NM_001277115.2(DNAH11):c.9816T>G (p.Asn3272Lys)
|
rs779389497
|
|
NM_001277115.2(DNAH11):c.9826T>G (p.Leu3276Val)
|
rs781418836
|
|
NM_001277115.2(DNAH11):c.9926T>A (p.Val3309Asp)
|
rs2535272025
|
|
NM_001277115.2(DNAH11):c.9929A>G (p.Tyr3310Cys)
|
|
|
NM_001364171.2(ODAD1):c.1016A>C (p.Asn339Thr)
|
|
|
NM_001364171.2(ODAD1):c.1029G>A (p.Glu343=)
|
|
|
NM_001364171.2(ODAD1):c.1088T>G (p.Val363Gly)
|
rs2515935478
|
|
NM_001364171.2(ODAD1):c.1145T>A (p.Val382Glu)
|
|
|
NM_001364171.2(ODAD1):c.1148T>C (p.Leu383Ser)
|
rs1968503578
|
|
NM_001364171.2(ODAD1):c.1186C>T (p.Arg396Cys)
|
rs373501045
|
|
NM_001364171.2(ODAD1):c.1275C>G (p.Asp425Glu)
|
rs35930441
|
|
NM_001364171.2(ODAD1):c.128G>A (p.Arg43Gln)
|
|
|
NM_001364171.2(ODAD1):c.1314C>A (p.Ser438Arg)
|
rs1204809790
|
|
NM_001364171.2(ODAD1):c.1314C>G (p.Ser438Arg)
|
rs1204809790
|
|
NM_001364171.2(ODAD1):c.1318G>C (p.Gly440Arg)
|
|
|
NM_001364171.2(ODAD1):c.1323C>T (p.Asp441=)
|
rs2515927663
|
|
NM_001364171.2(ODAD1):c.1360C>A (p.Arg454=)
|
rs199822195
|
|
NM_001364171.2(ODAD1):c.1367T>C (p.Val456Ala)
|
|
|
NM_001364171.2(ODAD1):c.1473G>T (p.Lys491Asn)
|
rs978861683
|
|
NM_001364171.2(ODAD1):c.1480C>T (p.Pro494Ser)
|
rs771912701
|
|
NM_001364171.2(ODAD1):c.1606_1607delinsTT (p.Ala536Leu)
|
rs2515925102
|
|
NM_001364171.2(ODAD1):c.1607C>T (p.Ala536Val)
|
|
|
NM_001364171.2(ODAD1):c.1628C>T (p.Ala543Val)
|
rs2515925006
|
|
NM_001364171.2(ODAD1):c.1629CGC[5] (p.Ala547dup)
|
rs761748771
|
|
NM_001364171.2(ODAD1):c.1633G>T (p.Ala545Ser)
|
|
|
NM_001364171.2(ODAD1):c.1638C>T (p.Ala546=)
|
rs764932103
|
|
NM_001364171.2(ODAD1):c.1663G>A (p.Val555Met)
|
|
|
NM_001364171.2(ODAD1):c.1674C>T (p.Ala558=)
|
rs2515924785
|
|
NM_001364171.2(ODAD1):c.1727A>G (p.His576Arg)
|
rs1335478746
|
|
NM_001364171.2(ODAD1):c.1783G>C (p.Gly595Arg)
|
rs2515924516
|
|
NM_001364171.2(ODAD1):c.1903C>T (p.His635Tyr)
|
|
|
NM_001364171.2(ODAD1):c.190G>A (p.Glu64Lys)
|
|
|
NM_001364171.2(ODAD1):c.1910C>T (p.Thr637Ile)
|
|
|
NM_001364171.2(ODAD1):c.1925G>A (p.Ser642Asn)
|
rs2515924065
|
|
NM_001364171.2(ODAD1):c.1927G>T (p.Ala643Ser)
|
rs201571963
|
|
NM_001364171.2(ODAD1):c.1928C>T (p.Ala643Val)
|
|
|
NM_001364171.2(ODAD1):c.1973G>A (p.Gly658Asp)
|
rs1380424120
|
|
NM_001364171.2(ODAD1):c.1973del (p.Gly658fs)
|
rs769187045
|
|
NM_001364171.2(ODAD1):c.2028C>A (p.Ser676Arg)
|
rs146521880
|
|
NM_001364171.2(ODAD1):c.2039G>A (p.Gly680Glu)
|
|
|
NM_001364171.2(ODAD1):c.2044A>G (p.Ser682Gly)
|
rs2515923528
|
|
NM_001364171.2(ODAD1):c.2090C>T (p.Pro697Leu)
|
rs768598609
|
|
NM_001364171.2(ODAD1):c.266G>A (p.Arg89Gln)
|
rs58966182
|
|
NM_001364171.2(ODAD1):c.285C>T (p.Arg95=)
|
rs2515958521
|
|
NM_001364171.2(ODAD1):c.334G>A (p.Glu112Lys)
|
|
|
NM_001364171.2(ODAD1):c.366G>T (p.Gln122His)
|
|
|
NM_001364171.2(ODAD1):c.373G>C (p.Glu125Gln)
|
|
|
NM_001364171.2(ODAD1):c.376A>G (p.Thr126Ala)
|
|
|
NM_001364171.2(ODAD1):c.389C>T (p.Thr130Ile)
|
|
|
NM_001364171.2(ODAD1):c.401A>G (p.Asn134Ser)
|
|
|
NM_001364171.2(ODAD1):c.407G>C (p.Arg136Thr)
|
|
|
NM_001364171.2(ODAD1):c.413C>A (p.Pro138Gln)
|
|
|
NM_001364171.2(ODAD1):c.424del (p.Leu142fs)
|
rs2515950149
|
|
NM_001364171.2(ODAD1):c.451del (p.Arg151fs)
|
rs751909800
|
|
NM_001364171.2(ODAD1):c.498_499insCGT (p.Phe166_Asp167insArg)
|
rs779459076
|
|
NM_001364171.2(ODAD1):c.514C>T (p.Arg172Trp)
|
rs556570604
|
|
NM_001364171.2(ODAD1):c.529C>T (p.Arg177Trp)
|
rs574119110
|
|
NM_001364171.2(ODAD1):c.535G>C (p.Glu179Gln)
|
|
|
NM_001364171.2(ODAD1):c.548T>C (p.Leu183Pro)
|
|
|
NM_001364171.2(ODAD1):c.556G>A (p.Asp186Asn)
|
rs372015636
|
|
NM_001364171.2(ODAD1):c.556G>C (p.Asp186His)
|
|
|
NM_001364171.2(ODAD1):c.556G>T (p.Asp186Tyr)
|
rs372015636
|
|
NM_001364171.2(ODAD1):c.577G>A (p.Val193Met)
|
|
|
NM_001364171.2(ODAD1):c.598-5C>G
|
rs10416590
|
|
NM_001364171.2(ODAD1):c.627C>G (p.Ser209Arg)
|
rs919043631
|
|
NM_001364171.2(ODAD1):c.716AGG[1] (p.Glu240del)
|
rs760854519
|
|
NM_001364171.2(ODAD1):c.754C>T (p.Arg252Trp)
|
|
|
NM_001364171.2(ODAD1):c.782A>C (p.His261Pro)
|
|
|
NM_001364171.2(ODAD1):c.807C>A (p.Asn269Lys)
|
rs200808081
|
|
NM_001364171.2(ODAD1):c.807C>T (p.Asn269=)
|
rs200808081
|
|
NM_001364171.2(ODAD1):c.829G>T (p.Val277Phe)
|
rs986502176
|
|
NM_001364171.2(ODAD1):c.850C>G (p.Gln284Glu)
|
|
|
NM_001364171.2(ODAD1):c.874G>A (p.Val292Ile)
|
rs571330368
|
|
NM_001364171.2(ODAD1):c.919G>A (p.Ala307Thr)
|
|
|
NM_001364171.2(ODAD1):c.933G>C (p.Leu311=)
|
|
|
NM_001364171.2(ODAD1):c.935C>A (p.Ser312Tyr)
|
|
|
NM_001364171.2(ODAD1):c.943A>G (p.Met315Val)
|
rs768270947
|
|
NM_001364171.2(ODAD1):c.943A>T (p.Met315Leu)
|
rs768270947
|
|
NM_001364171.2(ODAD1):c.990C>T (p.Ile330=)
|
rs734498
|
|
NM_001364171.2(ODAD1):c.997C>T (p.Arg333Cys)
|
rs147626899
|
|
NM_001369.3(DNAH5):c.1007A>T (p.Asp336Val)
|
|
|
NM_001369.3(DNAH5):c.10117A>C (p.Thr3373Pro)
|
|
|
NM_001369.3(DNAH5):c.10190A>G (p.Lys3397Arg)
|
rs903568959
|
|
NM_001369.3(DNAH5):c.10198T>C (p.Cys3400Arg)
|
rs2546640751
|
|
NM_001369.3(DNAH5):c.10218T>C (p.Leu3406=)
|
|
|
NM_001369.3(DNAH5):c.1022C>G (p.Ala341Gly)
|
|
|
NM_001369.3(DNAH5):c.1027G>A (p.Asp343Asn)
|
|
|
NM_001369.3(DNAH5):c.10301A>G (p.Glu3434Gly)
|
rs1751407075
|
|
NM_001369.3(DNAH5):c.10345G>A (p.Ala3449Thr)
|
rs2546630976
|
|
NM_001369.3(DNAH5):c.10348G>T (p.Glu3450Ter)
|
rs758739748
|
|
NM_001369.3(DNAH5):c.10351T>A (p.Leu3451Met)
|
|
|
NM_001369.3(DNAH5):c.10363C>G (p.Gln3455Glu)
|
rs1433859526
|
|
NM_001369.3(DNAH5):c.10375G>T (p.Asp3459Tyr)
|
rs751500950
|
|
NM_001369.3(DNAH5):c.10405A>G (p.Met3469Val)
|
rs755793521
|
|
NM_001369.3(DNAH5):c.10422C>T (p.Thr3474=)
|
rs2546618911
|
|
NM_001369.3(DNAH5):c.10440G>A (p.Glu3480=)
|
rs1485742988
|
|
NM_001369.3(DNAH5):c.1045T>C (p.Tyr349His)
|
rs2547137855
|
|
NM_001369.3(DNAH5):c.10558G>T (p.Asp3520Tyr)
|
rs766829989
|
|
NM_001369.3(DNAH5):c.10586C>G (p.Ser3529Cys)
|
|
|
NM_001369.3(DNAH5):c.10595G>A (p.Gly3532Asp)
|
|
|
NM_001369.3(DNAH5):c.10634A>T (p.Asp3545Val)
|
rs2546615500
|
|
NM_001369.3(DNAH5):c.10672G>C (p.Gly3558Arg)
|
|
|
NM_001369.3(DNAH5):c.10679A>G (p.Asn3560Ser)
|
|
|
NM_001369.3(DNAH5):c.10680C>G (p.Asn3560Lys)
|
|
|
NM_001369.3(DNAH5):c.10703T>C (p.Ile3568Thr)
|
rs1255772979
|
|
NM_001369.3(DNAH5):c.10711C>G (p.Pro3571Ala)
|
rs2546615162
|
|
NM_001369.3(DNAH5):c.10712CTA[1] (p.Thr3572del)
|
rs773869600
|
|
NM_001369.3(DNAH5):c.1071T>A (p.Pro357=)
|
rs2547137768
|
|
NM_001369.3(DNAH5):c.10767A>G (p.Gln3589=)
|
|
|
NM_001369.3(DNAH5):c.10774A>G (p.Ile3592Val)
|
|
|
NM_001369.3(DNAH5):c.10820A>G (p.Gln3607Arg)
|
rs1165094543
|
|
NM_001369.3(DNAH5):c.10835T>A (p.Ile3612Asn)
|
rs765033981
|
|
NM_001369.3(DNAH5):c.10848T>A (p.Asn3616Lys)
|
|
|
NM_001369.3(DNAH5):c.10848T>C (p.Asn3616=)
|
rs371211976
|
|
NM_001369.3(DNAH5):c.10910T>A (p.Leu3637Gln)
|
rs1750341802
|
|
NM_001369.3(DNAH5):c.10935G>T (p.Arg3645Ser)
|
rs369107938
|
|
NM_001369.3(DNAH5):c.10946T>G (p.Ile3649Ser)
|
rs2546611736
|
|
NM_001369.3(DNAH5):c.10951G>A (p.Asp3651Asn)
|
rs1330907347
|
|
NM_001369.3(DNAH5):c.11028+5G>A
|
rs1419129615
|
|
NM_001369.3(DNAH5):c.11044A>G (p.Lys3682Glu)
|
rs2546608762
|
|
NM_001369.3(DNAH5):c.11047_11050del (p.Lys3682_Glu3683insTer)
|
rs1750178563
|
|
NM_001369.3(DNAH5):c.11057T>A (p.Val3686Glu)
|
rs1750176019
|
|
NM_001369.3(DNAH5):c.1106C>G (p.Ala369Gly)
|
|
|
NM_001369.3(DNAH5):c.11078A>G (p.Tyr3693Cys)
|
rs747614788
|
|
NM_001369.3(DNAH5):c.11092T>C (p.Leu3698=)
|
rs1489390120
|
|
NM_001369.3(DNAH5):c.11102C>A (p.Pro3701Gln)
|
|
|
NM_001369.3(DNAH5):c.11108A>G (p.Tyr3703Cys)
|
|
|
NM_001369.3(DNAH5):c.11198T>C (p.Leu3733Pro)
|
rs2546608031
|
|
NM_001369.3(DNAH5):c.11211+4A>T
|
rs2546607913
|
|
NM_001369.3(DNAH5):c.11227A>G (p.Arg3743Gly)
|
rs1747695059
|
|
NM_001369.3(DNAH5):c.11297A>G (p.Tyr3766Cys)
|
rs2546569679
|
|
NM_001369.3(DNAH5):c.11315A>T (p.Gln3772Leu)
|
rs2546569527
|
|
NM_001369.3(DNAH5):c.11350G>T (p.Val3784Leu)
|
rs375636304
|
|
NM_001369.3(DNAH5):c.11462C>G (p.Thr3821Arg)
|
rs374858945
|
|
NM_001369.3(DNAH5):c.11546G>A (p.Gly3849Asp)
|
rs1747323389
|
|
NM_001369.3(DNAH5):c.11547C>T (p.Gly3849=)
|
rs772181765
|
|
NM_001369.3(DNAH5):c.11557C>A (p.Leu3853Ile)
|
rs1222348393
|
|
NM_001369.3(DNAH5):c.11611_11612del (p.Ile3871fs)
|
rs2546561572
|
|
NM_001369.3(DNAH5):c.11617G>A (p.Glu3873Lys)
|
rs770233429
|
|
NM_001369.3(DNAH5):c.11648C>T (p.Ala3883Val)
|
rs2546561247
|
|
NM_001369.3(DNAH5):c.11681T>G (p.Leu3894Arg)
|
rs766711089
|
|
NM_001369.3(DNAH5):c.11744T>C (p.Phe3915Ser)
|
rs2546560741
|
|
NM_001369.3(DNAH5):c.11756T>C (p.Ile3919Thr)
|
|
|
NM_001369.3(DNAH5):c.1177A>G (p.Ile393Val)
|
|
|
NM_001369.3(DNAH5):c.11802A>G (p.Pro3934=)
|
rs2546547254
|
|
NM_001369.3(DNAH5):c.11803T>A (p.Ser3935Thr)
|
rs145685491
|
|
NM_001369.3(DNAH5):c.11840del (p.Val3947fs)
|
rs2546547058
|
|
NM_001369.3(DNAH5):c.11860_11870del (p.Gln3954fs)
|
rs2546546922
|
|
NM_001369.3(DNAH5):c.11872G>A (p.Val3958Ile)
|
|
|
NM_001369.3(DNAH5):c.11942A>C (p.Glu3981Ala)
|
|
|
NM_001369.3(DNAH5):c.11961T>C (p.Tyr3987=)
|
rs2546541866
|
|
NM_001369.3(DNAH5):c.12002G>T (p.Arg4001Ile)
|
rs1290080477
|
|
NM_001369.3(DNAH5):c.12028G>A (p.Ala4010Thr)
|
rs758777667
|
|
NM_001369.3(DNAH5):c.12041A>G (p.Lys4014Arg)
|
rs2126531698
|
|
NM_001369.3(DNAH5):c.12046A>C (p.Ile4016Leu)
|
rs144287016
|
|
NM_001369.3(DNAH5):c.12071A>C (p.Tyr4024Ser)
|
rs1389508391
|
|
NM_001369.3(DNAH5):c.12206A>T (p.Glu4069Val)
|
rs770252526
|
|
NM_001369.3(DNAH5):c.12230A>G (p.Gln4077Arg)
|
rs925178133
|
|
NM_001369.3(DNAH5):c.12239A>T (p.Glu4080Val)
|
|
|
NM_001369.3(DNAH5):c.12241G>A (p.Val4081Ile)
|
rs756038618
|
|
NM_001369.3(DNAH5):c.12251G>T (p.Arg4084Leu)
|
rs140832239
|
|
NM_001369.3(DNAH5):c.12270C>T (p.Thr4090=)
|
rs2546524682
|
|
NM_001369.3(DNAH5):c.12286T>C (p.Trp4096Arg)
|
|
|
NM_001369.3(DNAH5):c.12353A>G (p.Glu4118Gly)
|
rs1744691263
|
|
NM_001369.3(DNAH5):c.12373G>C (p.Ala4125Pro)
|
rs757737381
|
|
NM_001369.3(DNAH5):c.12379C>T (p.Arg4127Cys)
|
rs148696723
|
|
NM_001369.3(DNAH5):c.12415C>G (p.Pro4139Ala)
|
rs1490944946
|
|
NM_001369.3(DNAH5):c.12419T>C (p.Ile4140Thr)
|
rs2546518022
|
|
NM_001369.3(DNAH5):c.12480A>T (p.Gly4160=)
|
rs2546517341
|
|
NM_001369.3(DNAH5):c.12513C>A (p.Asp4171Glu)
|
rs547445590
|
|
NM_001369.3(DNAH5):c.12513C>G (p.Asp4171Glu)
|
rs547445590
|
|
NM_001369.3(DNAH5):c.1256C>A (p.Ser419Tyr)
|
rs150010518
|
|
NM_001369.3(DNAH5):c.12656C>G (p.Ala4219Gly)
|
|
|
NM_001369.3(DNAH5):c.12709G>A (p.Val4237Ile)
|
rs138045391
|
|
NM_001369.3(DNAH5):c.1280T>C (p.Val427Ala)
|
rs2547129561
|
|
NM_001369.3(DNAH5):c.12858_12863delinsGTAAAAT (p.Tyr4287_Asn4288delinsTer)
|
rs2546508833
|
|
NM_001369.3(DNAH5):c.1289A>C (p.Glu430Ala)
|
|
|
NM_001369.3(DNAH5):c.12935A>G (p.Glu4312Gly)
|
|
|
NM_001369.3(DNAH5):c.13045G>T (p.Asp4349Tyr)
|
|
|
NM_001369.3(DNAH5):c.13060del (p.Ala4354fs)
|
rs1370489117
|
|
NM_001369.3(DNAH5):c.13062G>A (p.Ala4354=)
|
rs200924641
|
|
NM_001369.3(DNAH5):c.13114G>T (p.Val4372Phe)
|
rs1744009916
|
|
NM_001369.3(DNAH5):c.13138C>G (p.Leu4380Val)
|
|
|
NM_001369.3(DNAH5):c.13229C>G (p.Thr4410Ser)
|
rs146334067
|
|
NM_001369.3(DNAH5):c.13252A>G (p.Ile4418Val)
|
rs759339347
|
|
NM_001369.3(DNAH5):c.13254T>C (p.Ile4418=)
|
rs2126455593
|
|
NM_001369.3(DNAH5):c.13269C>G (p.Ile4423Met)
|
rs769984486
|
|
NM_001369.3(DNAH5):c.13301G>A (p.Cys4434Tyr)
|
rs770466215
|
|
NM_001369.3(DNAH5):c.13332G>A (p.Trp4444Ter)
|
rs2546486911
|
|
NM_001369.3(DNAH5):c.13364G>A (p.Gly4455Asp)
|
rs370684795
|
|
NM_001369.3(DNAH5):c.13392A>C (p.Arg4464Ser)
|
rs765591518
|
|
NM_001369.3(DNAH5):c.13458dup (p.Asn4487Ter)
|
rs775696136
|
|
NM_001369.3(DNAH5):c.13569C>A (p.Asp4523Glu)
|
rs151080414
|
|
NM_001369.3(DNAH5):c.13625G>A (p.Gly4542Asp)
|
rs1235308872
|
|
NM_001369.3(DNAH5):c.13643G>A (p.Arg4548Lys)
|
rs2546466919
|
|
NM_001369.3(DNAH5):c.13686G>C (p.Glu4562Asp)
|
|
|
NM_001369.3(DNAH5):c.13688T>G (p.Leu4563Trp)
|
|
|
NM_001369.3(DNAH5):c.13699A>T (p.Ile4567Leu)
|
rs761546028
|
|
NM_001369.3(DNAH5):c.1375G>A (p.Ala459Thr)
|
rs1421332082
|
|
NM_001369.3(DNAH5):c.13774C>T (p.Arg4592Ter)
|
rs758112779
|
|
NM_001369.3(DNAH5):c.13817C>A (p.Ala4606Asp)
|
rs770244453
|
|
NM_001369.3(DNAH5):c.13844G>C (p.Arg4615Pro)
|
rs1408568795
|
|
NM_001369.3(DNAH5):c.1403A>G (p.Tyr468Cys)
|
|
|
NM_001369.3(DNAH5):c.1456A>G (p.Ile486Val)
|
|
|
NM_001369.3(DNAH5):c.1466C>T (p.Thr489Ile)
|
rs764562876
|
|
NM_001369.3(DNAH5):c.1501_1503delinsGTC (p.Ile501Val)
|
rs1554101056
|
|
NM_001369.3(DNAH5):c.1523C>A (p.Ala508Asp)
|
rs2547126888
|
|
NM_001369.3(DNAH5):c.1534C>A (p.Gln512Lys)
|
|
|
NM_001369.3(DNAH5):c.1534C>T (p.Gln512Ter)
|
rs764935565
|
|
NM_001369.3(DNAH5):c.1585C>T (p.Arg529Trp)
|
rs200452908
|
|
NM_001369.3(DNAH5):c.1593G>A (p.Met531Ile)
|
rs1216204013
|
|
NM_001369.3(DNAH5):c.159C>T (p.Thr53=)
|
rs773322142
|
|
NM_001369.3(DNAH5):c.1643A>G (p.His548Arg)
|
rs2547119839
|
|
NM_001369.3(DNAH5):c.1647C>T (p.Asn549=)
|
rs139160176
|
|
NM_001369.3(DNAH5):c.1696A>G (p.Asn566Asp)
|
rs1774703319
|
|
NM_001369.3(DNAH5):c.1766A>C (p.Tyr589Ser)
|
rs1216300808
|
|
NM_001369.3(DNAH5):c.1884G>A (p.Leu628=)
|
rs534702284
|
|
NM_001369.3(DNAH5):c.1978A>C (p.Ile660Leu)
|
|
|
NM_001369.3(DNAH5):c.2072G>C (p.Gly691Ala)
|
|
|
NM_001369.3(DNAH5):c.2143T>A (p.Leu715Ile)
|
|
|
NM_001369.3(DNAH5):c.2260-444_2260-125del
|
rs2547069898
|
|
NM_001369.3(DNAH5):c.2260-449_2260-153del
|
rs2547069979
|
|
NM_001369.3(DNAH5):c.2264T>C (p.Met755Thr)
|
|
|
NM_001369.3(DNAH5):c.2339A>C (p.Lys780Thr)
|
rs1773692803
|
|
NM_001369.3(DNAH5):c.2520T>C (p.Leu840=)
|
rs1416452557
|
|
NM_001369.3(DNAH5):c.255A>G (p.Gln85=)
|
rs377179099
|
|
NM_001369.3(DNAH5):c.2578-11_2578-7del
|
rs71600031
|
|
NM_001369.3(DNAH5):c.2578-25dup
|
rs71600031
|
|
NM_001369.3(DNAH5):c.2578-7del
|
rs71600031
|
|
NM_001369.3(DNAH5):c.2578-8_2578-7del
|
rs71600031
|
|
NM_001369.3(DNAH5):c.2578-9_2578-7del
|
rs71600031
|
|
NM_001369.3(DNAH5):c.2581C>G (p.Leu861Val)
|
rs753213789
|
|
NM_001369.3(DNAH5):c.2599C>T (p.Gln867Ter)
|
rs1484394072
|
|
NM_001369.3(DNAH5):c.2659T>C (p.Leu887=)
|
rs2547042703
|
|
NM_001369.3(DNAH5):c.2739T>G (p.Ser913Arg)
|
rs2151942892
|
|
NM_001369.3(DNAH5):c.2772del (p.Thr924_Leu925insTer)
|
rs1554090622
|
|
NM_001369.3(DNAH5):c.2810T>C (p.Leu937Pro)
|
|
|
NM_001369.3(DNAH5):c.2821G>A (p.Val941Ile)
|
rs370080157
|
|
NM_001369.3(DNAH5):c.282A>G (p.Gln94=)
|
rs778984269
|
|
NM_001369.3(DNAH5):c.283C>T (p.Leu95Phe)
|
rs757542755
|
|
NM_001369.3(DNAH5):c.2847G>C (p.Glu949Asp)
|
rs1327112486
|
|
NM_001369.3(DNAH5):c.2866C>T (p.Arg956Cys)
|
rs151039897
|
|
NM_001369.3(DNAH5):c.2867G>C (p.Arg956Pro)
|
rs752260329
|
|
NM_001369.3(DNAH5):c.2929A>G (p.Thr977Ala)
|
|
|
NM_001369.3(DNAH5):c.2980C>G (p.Arg994Gly)
|
rs560275492
|
|
NM_001369.3(DNAH5):c.2986A>G (p.Ser996Gly)
|
|
|
NM_001369.3(DNAH5):c.2988T>G (p.Ser996Arg)
|
rs2547031842
|
|
NM_001369.3(DNAH5):c.3006G>C (p.Met1002Ile)
|
rs1185699460
|
|
NM_001369.3(DNAH5):c.3038G>A (p.Ser1013Asn)
|
rs1258016856
|
|
NM_001369.3(DNAH5):c.3039C>A (p.Ser1013Arg)
|
rs560267080
|
|
NM_001369.3(DNAH5):c.3074C>T (p.Pro1025Leu)
|
|
|
NM_001369.3(DNAH5):c.3123C>G (p.Ile1041Met)
|
|
|
NM_001369.3(DNAH5):c.3134C>T (p.Pro1045Leu)
|
|
|
NM_001369.3(DNAH5):c.319A>C (p.Lys107Gln)
|
|
|
NM_001369.3(DNAH5):c.3219A>G (p.Glu1073=)
|
rs2151938127
|
|
NM_001369.3(DNAH5):c.3222C>T (p.Asp1074=)
|
rs1771849259
|
|
NM_001369.3(DNAH5):c.3224G>A (p.Ser1075Asn)
|
rs2547030185
|
|
NM_001369.3(DNAH5):c.329A>C (p.Lys110Thr)
|
rs2547160570
|
|
NM_001369.3(DNAH5):c.3341_3342del (p.Lys1114fs)
|
rs768881056
|
|
NM_001369.3(DNAH5):c.3415G>C (p.Asp1139His)
|
rs1554085372
|
|
NM_001369.3(DNAH5):c.349G>T (p.Glu117Ter)
|
rs116128702
|
|
NM_001369.3(DNAH5):c.3504del (p.Glu1168fs)
|
rs2546999923
|
|
NM_001369.3(DNAH5):c.3615C>T (p.Ala1205=)
|
rs1770016530
|
|
NM_001369.3(DNAH5):c.3619A>C (p.Thr1207Pro)
|
rs751652153
|
|
NM_001369.3(DNAH5):c.3650T>G (p.Ile1217Ser)
|
rs112124692
|
|
NM_001369.3(DNAH5):c.3667A>G (p.Lys1223Glu)
|
rs1209049233
|
|
NM_001369.3(DNAH5):c.3671A>G (p.Lys1224Arg)
|
rs1561476005
|
|
NM_001369.3(DNAH5):c.3708T>G (p.Ile1236Met)
|
rs1769997412
|
|
NM_001369.3(DNAH5):c.371C>G (p.Thr124Ser)
|
|
|
NM_001369.3(DNAH5):c.3772G>A (p.Ala1258Thr)
|
|
|
NM_001369.3(DNAH5):c.3785A>G (p.Glu1262Gly)
|
rs1561475359
|
|
NM_001369.3(DNAH5):c.3788T>C (p.Ile1263Thr)
|
rs2546995678
|
|
NM_001369.3(DNAH5):c.3835-3del
|
rs35398031
|
|
NM_001369.3(DNAH5):c.3904C>A (p.Leu1302Met)
|
rs1335346987
|
|
NM_001369.3(DNAH5):c.3943G>C (p.Glu1315Gln)
|
|
|
NM_001369.3(DNAH5):c.3948C>G (p.Val1316=)
|
rs369432984
|
|
NM_001369.3(DNAH5):c.3965C>T (p.Ser1322Leu)
|
rs2546988231
|
|
NM_001369.3(DNAH5):c.3967C>G (p.Leu1323Val)
|
|
|
NM_001369.3(DNAH5):c.4013T>C (p.Phe1338Ser)
|
|
|
NM_001369.3(DNAH5):c.4046A>G (p.Tyr1349Cys)
|
|
|
NM_001369.3(DNAH5):c.4053+150_4053+151dup
|
rs3058927
|
|
NM_001369.3(DNAH5):c.4053+150_4053+152dup
|
rs3058927
|
|
NM_001369.3(DNAH5):c.4053+150dup
|
rs3058927
|
|
NM_001369.3(DNAH5):c.4098C>T (p.Asp1366=)
|
rs1263441445
|
|
NM_001369.3(DNAH5):c.40G>T (p.Val14Phe)
|
rs1015850611
|
|
NM_001369.3(DNAH5):c.4106T>C (p.Ile1369Thr)
|
rs1364768386
|
|
NM_001369.3(DNAH5):c.4108A>G (p.Met1370Val)
|
rs2546984319
|
|
NM_001369.3(DNAH5):c.4108A>T (p.Met1370Leu)
|
rs2546984319
|
|
NM_001369.3(DNAH5):c.4117-5A>G
|
rs1444994332
|
|
NM_001369.3(DNAH5):c.4254G>A (p.Leu1418=)
|
rs548183364
|
|
NM_001369.3(DNAH5):c.4257C>A (p.Tyr1419Ter)
|
rs1769153825
|
|
NM_001369.3(DNAH5):c.4400dup (p.Leu1467fs)
|
rs1252973555
|
|
NM_001369.3(DNAH5):c.443T>G (p.Val148Gly)
|
|
|
NM_001369.3(DNAH5):c.4442C>G (p.Pro1481Arg)
|
rs144958262
|
|
NM_001369.3(DNAH5):c.446G>A (p.Ser149Asn)
|
rs2547156783
|
|
NM_001369.3(DNAH5):c.4499C>G (p.Thr1500Ser)
|
rs779232266
|
|
NM_001369.3(DNAH5):c.4561G>A (p.Glu1521Lys)
|
rs2546978362
|
|
NM_001369.3(DNAH5):c.4568C>T (p.Pro1523Leu)
|
rs759737050
|
|
NM_001369.3(DNAH5):c.4594G>C (p.Glu1532Gln)
|
|
|
NM_001369.3(DNAH5):c.4622A>G (p.Glu1541Gly)
|
rs2546974118
|
|
NM_001369.3(DNAH5):c.4636C>T (p.Gln1546Ter)
|
rs1344601147
|
|
NM_001369.3(DNAH5):c.4695del (p.Phe1565fs)
|
rs2151905765
|
|
NM_001369.3(DNAH5):c.4732A>G (p.Thr1578Ala)
|
|
|
NM_001369.3(DNAH5):c.4824T>C (p.Ile1608=)
|
rs1016408037
|
|
NM_001369.3(DNAH5):c.4858G>C (p.Asp1620His)
|
|
|
NM_001369.3(DNAH5):c.4866C>G (p.Ile1622Met)
|
rs777697449
|
|
NM_001369.3(DNAH5):c.4875G>C (p.Trp1625Cys)
|
rs2546965486
|
|
NM_001369.3(DNAH5):c.4958A>G (p.Lys1653Arg)
|
|
|
NM_001369.3(DNAH5):c.4959G>C (p.Lys1653Asn)
|
rs1207203971
|
|
NM_001369.3(DNAH5):c.5022T>A (p.Ser1674Arg)
|
rs758627759
|
|
NM_001369.3(DNAH5):c.506C>A (p.Ser169Ter)
|
rs749078502
|
|
NM_001369.3(DNAH5):c.5115-5_5115-4delinsCC
|
rs2151870553
|
|
NM_001369.3(DNAH5):c.5124G>T (p.Glu1708Asp)
|
rs60163339
|
|
NM_001369.3(DNAH5):c.5129A>C (p.Lys1710Thr)
|
rs1765774620
|
|
NM_001369.3(DNAH5):c.5142T>C (p.Phe1714=)
|
rs2151870424
|
|
NM_001369.3(DNAH5):c.5147G>A (p.Arg1716Gln)
|
rs74799487
|
|
NM_001369.3(DNAH5):c.5158G>C (p.Val1720Leu)
|
rs778341195
|
|
NM_001369.3(DNAH5):c.5162C>T (p.Ser1721Leu)
|
|
|
NM_001369.3(DNAH5):c.5196G>A (p.Ala1732=)
|
rs201484389
|
|
NM_001369.3(DNAH5):c.5212A>C (p.Ile1738Leu)
|
rs1765756588
|
|
NM_001369.3(DNAH5):c.5219C>T (p.Ala1740Val)
|
rs1554074458
|
|
NM_001369.3(DNAH5):c.521C>G (p.Pro174Arg)
|
rs1777391853
|
|
NM_001369.3(DNAH5):c.5246T>C (p.Ile1749Thr)
|
rs770108485
|
|
NM_001369.3(DNAH5):c.5246T>G (p.Ile1749Ser)
|
rs770108485
|
|
NM_001369.3(DNAH5):c.5272-15del
|
rs35337694
|
|
NM_001369.3(DNAH5):c.5272-15dup
|
rs35337694
|
|
NM_001369.3(DNAH5):c.5272-16_5272-15del
|
rs35337694
|
|
NM_001369.3(DNAH5):c.5272-17_5272-15del
|
rs35337694
|
|
NM_001369.3(DNAH5):c.5281C>T (p.Arg1761Ter)
|
rs148891849
|
|
NM_001369.3(DNAH5):c.5315C>G (p.Thr1772Arg)
|
rs754845694
|
|
NM_001369.3(DNAH5):c.5326del (p.Asp1776fs)
|
rs2546911765
|
|
NM_001369.3(DNAH5):c.5347G>A (p.Gly1783Ser)
|
|
|
NM_001369.3(DNAH5):c.5387C>G (p.Ser1796Cys)
|
|
|
NM_001369.3(DNAH5):c.5389C>T (p.Gln1797Ter)
|
rs2546911328
|
|
NM_001369.3(DNAH5):c.5396C>T (p.Ser1799Leu)
|
rs727503903
|
|
NM_001369.3(DNAH5):c.5414G>A (p.Arg1805His)
|
|
|
NM_001369.3(DNAH5):c.5492T>C (p.Leu1831Ser)
|
|
|
NM_001369.3(DNAH5):c.5563dup (p.Ile1855fs)
|
rs752925056
|
|
NM_001369.3(DNAH5):c.5578A>G (p.Asn1860Asp)
|
rs751944938
|
|
NM_001369.3(DNAH5):c.5608T>C (p.Leu1870=)
|
rs763656985
|
|
NM_001369.3(DNAH5):c.5629G>A (p.Asp1877Asn)
|
|
|
NM_001369.3(DNAH5):c.5669T>C (p.Ile1890Thr)
|
rs1765070718
|
|
NM_001369.3(DNAH5):c.5720A>C (p.His1907Pro)
|
rs1217486639
|
|
NM_001369.3(DNAH5):c.5733C>T (p.Pro1911=)
|
rs1764871933
|
|
NM_001369.3(DNAH5):c.5758T>G (p.Cys1920Gly)
|
|
|
NM_001369.3(DNAH5):c.5775C>T (p.Asn1925=)
|
rs112389411
|
|
NM_001369.3(DNAH5):c.5789A>G (p.Lys1930Arg)
|
|
|
NM_001369.3(DNAH5):c.57G>A (p.Thr19=)
|
rs142969794
|
|
NM_001369.3(DNAH5):c.57G>T (p.Thr19=)
|
rs142969794
|
|
NM_001369.3(DNAH5):c.57_57+1delinsAA
|
rs1560984816
|
|
NM_001369.3(DNAH5):c.5824T>A (p.Tyr1942Asn)
|
rs764206378
|
|
NM_001369.3(DNAH5):c.5852A>G (p.Asp1951Gly)
|
|
|
NM_001369.3(DNAH5):c.5902C>T (p.Gln1968Ter)
|
rs775125740
|
|
NM_001369.3(DNAH5):c.5929G>C (p.Ala1977Pro)
|
rs143894811
|
|
NM_001369.3(DNAH5):c.5936C>T (p.Ala1979Val)
|
rs2546882209
|
|
NM_001369.3(DNAH5):c.594G>C (p.Glu198Asp)
|
rs769718109
|
|
NM_001369.3(DNAH5):c.5994G>C (p.Gly1998=)
|
rs1171499406
|
|
NM_001369.3(DNAH5):c.6037C>T (p.Arg2013Ter)
|
rs1273352530
|
|
NM_001369.3(DNAH5):c.6049C>T (p.Arg2017Trp)
|
rs143679999
|
|
NM_001369.3(DNAH5):c.6107G>T (p.Arg2036Leu)
|
rs760502991
|
|
NM_001369.3(DNAH5):c.6170A>G (p.Lys2057Arg)
|
rs1256261329
|
|
NM_001369.3(DNAH5):c.6206A>T (p.Asp2069Val)
|
rs2546878490
|
|
NM_001369.3(DNAH5):c.6343A>G (p.Ile2115Val)
|
rs1185708782
|
|
NM_001369.3(DNAH5):c.6343del (p.Ile2114_Ile2115insTer)
|
rs1474945018
|
|
NM_001369.3(DNAH5):c.6368del (p.Gly2123fs)
|
rs2151835119
|
|
NM_001369.3(DNAH5):c.6382G>A (p.Val2128Ile)
|
rs754976621
|
|
NM_001369.3(DNAH5):c.6402T>C (p.Phe2134=)
|
rs1376548457
|
|
NM_001369.3(DNAH5):c.6415A>G (p.Lys2139Glu)
|
|
|
NM_001369.3(DNAH5):c.6455A>T (p.Asp2152Val)
|
rs1389551827
|
|
NM_001369.3(DNAH5):c.6473T>G (p.Ile2158Ser)
|
rs2546858432
|
|
NM_001369.3(DNAH5):c.6528G>T (p.Thr2176=)
|
rs768101989
|
|
NM_001369.3(DNAH5):c.6589G>A (p.Asp2197Asn)
|
|
|
NM_001369.3(DNAH5):c.6595C>A (p.Pro2199Thr)
|
rs1350160267
|
|
NM_001369.3(DNAH5):c.6628C>A (p.Pro2210Thr)
|
|
|
NM_001369.3(DNAH5):c.6629C>A (p.Pro2210Gln)
|
|
|
NM_001369.3(DNAH5):c.6634A>T (p.Ile2212Phe)
|
|
|
NM_001369.3(DNAH5):c.667C>T (p.Leu223Phe)
|
|
|
NM_001369.3(DNAH5):c.6706A>G (p.Ile2236Val)
|
|
|
NM_001369.3(DNAH5):c.6736A>G (p.Ile2246Val)
|
rs2546843688
|
|
NM_001369.3(DNAH5):c.6794G>C (p.Gly2265Ala)
|
rs758160967
|
|
NM_001369.3(DNAH5):c.6812G>A (p.Cys2271Tyr)
|
rs1441567937
|
|
NM_001369.3(DNAH5):c.6828G>A (p.Met2276Ile)
|
|
|
NM_001369.3(DNAH5):c.6849A>G (p.Gly2283=)
|
rs774606797
|
|
NM_001369.3(DNAH5):c.6900G>C (p.Gln2300His)
|
|
|
NM_001369.3(DNAH5):c.6944G>C (p.Gly2315Ala)
|
|
|
NM_001369.3(DNAH5):c.6947T>C (p.Ile2316Thr)
|
rs1761611403
|
|
NM_001369.3(DNAH5):c.6989-7_6989-5dup
|
rs1460888052
|
|
NM_001369.3(DNAH5):c.700C>A (p.Leu234Ile)
|
rs199974463
|
|
NM_001369.3(DNAH5):c.7027G>T (p.Ala2343Ser)
|
rs2546825796
|
|
NM_001369.3(DNAH5):c.7089T>C (p.Asn2363=)
|
rs547828965
|
|
NM_001369.3(DNAH5):c.719A>G (p.Tyr240Cys)
|
|
|
NM_001369.3(DNAH5):c.7202C>T (p.Ser2401Phe)
|
rs2546824852
|
|
NM_001369.3(DNAH5):c.7205T>C (p.Ile2402Thr)
|
rs774934452
|
|
NM_001369.3(DNAH5):c.7207C>A (p.Leu2403Ile)
|
rs2546824821
|
|
NM_001369.3(DNAH5):c.7219C>T (p.Pro2407Ser)
|
rs1761195691
|
|
NM_001369.3(DNAH5):c.7289A>T (p.Glu2430Val)
|
rs770043711
|
|
NM_001369.3(DNAH5):c.7309C>G (p.Arg2437Gly)
|
rs201469471
|
|
NM_001369.3(DNAH5):c.7309C>T (p.Arg2437Cys)
|
rs201469471
|
|
NM_001369.3(DNAH5):c.7332A>C (p.Glu2444Asp)
|
rs2546814423
|
|
NM_001369.3(DNAH5):c.7388A>C (p.Gln2463Pro)
|
rs10078391
|
|
NM_001369.3(DNAH5):c.7391G>C (p.Gly2464Ala)
|
rs772513153
|
|
NM_001369.3(DNAH5):c.7407+1G>A
|
rs749711805
|
|
NM_001369.3(DNAH5):c.7451T>C (p.Phe2484Ser)
|
|
|
NM_001369.3(DNAH5):c.7452C>T (p.Phe2484=)
|
rs561666802
|
|
NM_001369.3(DNAH5):c.7455_7456dup (p.Phe2486fs)
|
rs2127015093
|
|
NM_001369.3(DNAH5):c.7459G>A (p.Ala2487Thr)
|
rs774699675
|
|
NM_001369.3(DNAH5):c.7459G>T (p.Ala2487Ser)
|
|
|
NM_001369.3(DNAH5):c.7473C>T (p.Ser2491=)
|
rs1163482951
|
|
NM_001369.3(DNAH5):c.7515G>C (p.Glu2505Asp)
|
rs1032671138
|
|
NM_001369.3(DNAH5):c.7516C>T (p.Leu2506Phe)
|
|
|
NM_001369.3(DNAH5):c.7525C>T (p.Arg2509Cys)
|
rs531393117
|
|
NM_001369.3(DNAH5):c.7531C>G (p.Arg2511Gly)
|
rs564040169
|
|
NM_001369.3(DNAH5):c.7552C>G (p.Leu2518Val)
|
rs1272856578
|
|
NM_001369.3(DNAH5):c.7610-2A>G
|
rs2546801557
|
|
NM_001369.3(DNAH5):c.7684A>G (p.Ile2562Val)
|
rs151287187
|
|
NM_001369.3(DNAH5):c.769A>G (p.Met257Val)
|
rs759576627
|
|
NM_001369.3(DNAH5):c.7733C>A (p.Thr2578Asn)
|
rs2546800503
|
|
NM_001369.3(DNAH5):c.7781C>T (p.Thr2594Ile)
|
|
|
NM_001369.3(DNAH5):c.7814C>T (p.Ser2605Leu)
|
|
|
NM_001369.3(DNAH5):c.7837A>G (p.Met2613Val)
|
|
|
NM_001369.3(DNAH5):c.7900A>G (p.Ser2634Gly)
|
|
|
NM_001369.3(DNAH5):c.7905T>C (p.Tyr2635=)
|
|
|
NM_001369.3(DNAH5):c.791_794del (p.Thr264fs)
|
rs1391084505
|
|
NM_001369.3(DNAH5):c.7922G>T (p.Gly2641Val)
|
|
|
NM_001369.3(DNAH5):c.7934G>A (p.Gly2645Asp)
|
rs866732649
|
|
NM_001369.3(DNAH5):c.8010+1G>A
|
rs2546745461
|
|
NM_001369.3(DNAH5):c.8022G>C (p.Glu2674Asp)
|
rs2546744210
|
|
NM_001369.3(DNAH5):c.8024_8025dup (p.Val2676Ter)
|
rs1060501459
|
|
NM_001369.3(DNAH5):c.8039T>A (p.Met2680Lys)
|
rs143754999
|
|
NM_001369.3(DNAH5):c.8098A>C (p.Ile2700Leu)
|
|
|
NM_001369.3(DNAH5):c.8176A>T (p.Ile2726Leu)
|
rs756343680
|
|
NM_001369.3(DNAH5):c.8217G>A (p.Lys2739=)
|
rs375287005
|
|
NM_001369.3(DNAH5):c.8217G>C (p.Lys2739Asn)
|
rs375287005
|
|
NM_001369.3(DNAH5):c.8218A>C (p.Ile2740Leu)
|
|
|
NM_001369.3(DNAH5):c.8242C>T (p.His2748Tyr)
|
|
|
NM_001369.3(DNAH5):c.8303C>T (p.Pro2768Leu)
|
rs151040029
|
|
NM_001369.3(DNAH5):c.8312G>A (p.Arg2771His)
|
rs199643592
|
|
NM_001369.3(DNAH5):c.8328G>A (p.Met2776Ile)
|
rs1580266122
|
|
NM_001369.3(DNAH5):c.8366A>T (p.His2789Leu)
|
|
|
NM_001369.3(DNAH5):c.8383C>G (p.Arg2795Gly)
|
|
|
NM_001369.3(DNAH5):c.8396G>C (p.Arg2799Pro)
|
rs1182948401
|
|
NM_001369.3(DNAH5):c.8488A>G (p.Ile2830Val)
|
|
|
NM_001369.3(DNAH5):c.8516A>G (p.Asp2839Gly)
|
rs2546724275
|
|
NM_001369.3(DNAH5):c.8552T>C (p.Val2851Ala)
|
rs1756491046
|
|
NM_001369.3(DNAH5):c.8587G>A (p.Val2863Met)
|
rs1756483888
|
|
NM_001369.3(DNAH5):c.8596G>A (p.Gly2866Arg)
|
rs2546723820
|
|
NM_001369.3(DNAH5):c.8636C>T (p.Pro2879Leu)
|
|
|
NM_001369.3(DNAH5):c.8690A>G (p.Tyr2897Cys)
|
rs768985491
|
|
NM_001369.3(DNAH5):c.8722G>A (p.Glu2908Lys)
|
rs2546713278
|
|
NM_001369.3(DNAH5):c.8741T>C (p.Leu2914Pro)
|
|
|
NM_001369.3(DNAH5):c.8750A>C (p.Tyr2917Ser)
|
rs768141871
|
|
NM_001369.3(DNAH5):c.8750A>G (p.Tyr2917Cys)
|
rs768141871
|
|
NM_001369.3(DNAH5):c.8750A>T (p.Tyr2917Phe)
|
rs768141871
|
|
NM_001369.3(DNAH5):c.8751T>G (p.Tyr2917Ter)
|
rs1755980161
|
|
NM_001369.3(DNAH5):c.8782_8786dup (p.Phe2930fs)
|
rs1755969817
|
|
NM_001369.3(DNAH5):c.8817C>T (p.Val2939=)
|
|
|
NM_001369.3(DNAH5):c.8818A>C (p.Lys2940Gln)
|
rs932286708
|
|
NM_001369.3(DNAH5):c.8841T>C (p.Thr2947=)
|
rs2546696862
|
|
NM_001369.3(DNAH5):c.8866G>C (p.Gly2956Arg)
|
|
|
NM_001369.3(DNAH5):c.88C>A (p.Arg30=)
|
rs114220185
|
|
NM_001369.3(DNAH5):c.8961C>T (p.Asn2987=)
|
rs973106947
|
|
NM_001369.3(DNAH5):c.8962A>G (p.Thr2988Ala)
|
rs1754251806
|
|
NM_001369.3(DNAH5):c.8966C>T (p.Ser2989Leu)
|
|
|
NM_001369.3(DNAH5):c.8972T>C (p.Leu2991Pro)
|
|
|
NM_001369.3(DNAH5):c.9002C>T (p.Thr3001Ile)
|
rs1296320011
|
|
NM_001369.3(DNAH5):c.9008G>A (p.Gly3003Asp)
|
rs2546682297
|
|
NM_001369.3(DNAH5):c.9046A>T (p.Asn3016Tyr)
|
|
|
NM_001369.3(DNAH5):c.9077A>C (p.Tyr3026Ser)
|
rs751032242
|
|
NM_001369.3(DNAH5):c.9091T>C (p.Leu3031=)
|
|
|
NM_001369.3(DNAH5):c.9125G>T (p.Arg3042Leu)
|
rs200839716
|
|
NM_001369.3(DNAH5):c.9151G>A (p.Asp3051Asn)
|
rs1171709721
|
|
NM_001369.3(DNAH5):c.9157G>A (p.Ala3053Thr)
|
rs1244861228
|
|
NM_001369.3(DNAH5):c.9166A>G (p.Met3056Val)
|
rs374707562
|
|
NM_001369.3(DNAH5):c.920C>T (p.Pro307Leu)
|
|
|
NM_001369.3(DNAH5):c.9220T>A (p.Phe3074Ile)
|
rs2546679072
|
|
NM_001369.3(DNAH5):c.9222C>T (p.Phe3074=)
|
rs1214502696
|
|
NM_001369.3(DNAH5):c.9230G>A (p.Arg3077Gln)
|
rs113742238
|
|
NM_001369.3(DNAH5):c.9230G>T (p.Arg3077Leu)
|
rs113742238
|
|
NM_001369.3(DNAH5):c.925G>A (p.Val309Met)
|
rs776025009
|
|
NM_001369.3(DNAH5):c.9332T>C (p.Ile3111Thr)
|
rs777061272
|
|
NM_001369.3(DNAH5):c.9452C>G (p.Ser3151Cys)
|
rs1243099431
|
|
NM_001369.3(DNAH5):c.9480T>A (p.Cys3160Ter)
|
rs764948792
|
|
NM_001369.3(DNAH5):c.9481G>T (p.Val3161Phe)
|
rs773045896
|
|
NM_001369.3(DNAH5):c.9578A>T (p.His3193Leu)
|
|
|
NM_001369.3(DNAH5):c.9601A>G (p.Asn3201Asp)
|
|
|
NM_001369.3(DNAH5):c.9611A>C (p.Asn3204Thr)
|
rs1438130564
|
|
NM_001369.3(DNAH5):c.9630C>G (p.Leu3210=)
|
rs910986442
|
|
NM_001369.3(DNAH5):c.9652G>T (p.Ala3218Ser)
|
|
|
NM_001369.3(DNAH5):c.9677C>A (p.Ala3226Glu)
|
|
|
NM_001369.3(DNAH5):c.9677C>T (p.Ala3226Val)
|
rs192262838
|
|
NM_001369.3(DNAH5):c.9679A>T (p.Lys3227Ter)
|
rs2546658786
|
|
NM_001369.3(DNAH5):c.9720+4G>A
|
rs2546658515
|
|
NM_001369.3(DNAH5):c.9720G>T (p.Met3240Ile)
|
rs2546658536
|
|
NM_001369.3(DNAH5):c.9751G>T (p.Ala3251Ser)
|
rs139293893
|
|
NM_001369.3(DNAH5):c.9772G>C (p.Glu3258Gln)
|
rs769058578
|
|
NM_001369.3(DNAH5):c.9799C>T (p.Gln3267Ter)
|
rs923842695
|
|
NM_001369.3(DNAH5):c.9922A>C (p.Thr3308Pro)
|
|
|
NM_001369.3(DNAH5):c.9933G>A (p.Thr3311=)
|
rs376212341
|
|
NM_001369.3(DNAH5):c.9950A>G (p.His3317Arg)
|
rs755181591
|
|
NM_001369.3(DNAH5):c.9976G>A (p.Val3326Ile)
|
rs149452082
|
|
NM_001369.3(DNAH5):c.9990dup (p.Gln3331fs)
|
rs2126762332
|
|
NM_003114.5(SPAG1):c.1013G>T (p.Arg338Met)
|
rs2132289649
|
|
NM_003114.5(SPAG1):c.1014G>T (p.Arg338Ser)
|
|
|
NM_003114.5(SPAG1):c.103G>A (p.Asp35Asn)
|
rs1347815407
|
|
NM_003114.5(SPAG1):c.1051G>C (p.Glu351Gln)
|
|
|
NM_003114.5(SPAG1):c.105T>G (p.Asp35Glu)
|
rs759906925
|
|
NM_003114.5(SPAG1):c.1242G>C (p.Ala414=)
|
rs760676415
|
|
NM_003114.5(SPAG1):c.1258C>G (p.Arg420Gly)
|
|
|
NM_003114.5(SPAG1):c.1271C>G (p.Ala424Gly)
|
rs1586496414
|
|
NM_003114.5(SPAG1):c.1271C>T (p.Ala424Val)
|
rs1586496414
|
|
NM_003114.5(SPAG1):c.1271CGG[6] (p.Ala428dup)
|
rs962670800
|
|
NM_003114.5(SPAG1):c.1275G>A (p.Ala425=)
|
|
|
NM_003114.5(SPAG1):c.1285G>C (p.Gly429Arg)
|
rs2489442316
|
|
NM_003114.5(SPAG1):c.1285_1294del (p.Gly429fs)
|
rs918324226
|
|
NM_003114.5(SPAG1):c.1307C>A (p.Pro436Gln)
|
rs761617724
|
|
NM_003114.5(SPAG1):c.1312G>T (p.Gly438Cys)
|
|
|
NM_003114.5(SPAG1):c.1324G>C (p.Ala442Pro)
|
rs749989315
|
|
NM_003114.5(SPAG1):c.1324G>T (p.Ala442Ser)
|
|
|
NM_003114.5(SPAG1):c.1325C>G (p.Ala442Gly)
|
rs912680958
|
|
NM_003114.5(SPAG1):c.1338C>G (p.Ala446=)
|
rs2514681
|
|
NM_003114.5(SPAG1):c.1338C>T (p.Ala446=)
|
rs2514681
|
|
NM_003114.5(SPAG1):c.1376G>A (p.Gly459Glu)
|
rs2489445320
|
|
NM_003114.5(SPAG1):c.1411G>T (p.Ala471Ser)
|
rs1250677947
|
|
NM_003114.5(SPAG1):c.1456C>A (p.Leu486Ile)
|
|
|
NM_003114.5(SPAG1):c.1636A>G (p.Thr546Ala)
|
|
|
NM_003114.5(SPAG1):c.1669G>A (p.Ala557Thr)
|
rs1340187889
|
|
NM_003114.5(SPAG1):c.1689G>C (p.Arg563Ser)
|
|
|
NM_003114.5(SPAG1):c.169C>A (p.Leu57Ile)
|
|
|
NM_003114.5(SPAG1):c.1830C>T (p.Ser610=)
|
rs1179789423
|
|
NM_003114.5(SPAG1):c.1841A>C (p.Gln614Pro)
|
rs912740405
|
|
NM_003114.5(SPAG1):c.1873G>A (p.Ala625Thr)
|
|
|
NM_003114.5(SPAG1):c.1898G>A (p.Cys633Tyr)
|
rs1818753657
|
|
NM_003114.5(SPAG1):c.1990G>A (p.Ala664Thr)
|
|
|
NM_003114.5(SPAG1):c.2038T>C (p.Cys680Arg)
|
|
|
NM_003114.5(SPAG1):c.2236C>G (p.Pro746Ala)
|
|
|
NM_003114.5(SPAG1):c.2246A>C (p.Lys749Thr)
|
|
|
NM_003114.5(SPAG1):c.2300A>G (p.Glu767Gly)
|
rs2489643013
|
|
NM_003114.5(SPAG1):c.2331G>A (p.Met777Ile)
|
|
|
NM_003114.5(SPAG1):c.2420A>G (p.Tyr807Cys)
|
|
|
NM_003114.5(SPAG1):c.2459A>C (p.Lys820Thr)
|
rs1322757927
|
|
NM_003114.5(SPAG1):c.2548T>C (p.Phe850Leu)
|
rs958028536
|
|
NM_003114.5(SPAG1):c.2620T>A (p.Leu874Ile)
|
|
|
NM_003114.5(SPAG1):c.2638G>C (p.Glu880Gln)
|
|
|
NM_003114.5(SPAG1):c.2650-2A>G
|
rs761808613
|
|
NM_003114.5(SPAG1):c.2674G>C (p.Gly892Arg)
|
|
|
NM_003114.5(SPAG1):c.2752C>G (p.Gln918Glu)
|
|
|
NM_003114.5(SPAG1):c.290G>A (p.Gly97Asp)
|
rs1175188961
|
|
NM_003114.5(SPAG1):c.301-2A>G
|
rs2489308738
|
|
NM_003114.5(SPAG1):c.412C>T (p.Leu138Phe)
|
|
|
NM_003114.5(SPAG1):c.518T>C (p.Ile173Thr)
|
rs188430751
|
|
NM_003114.5(SPAG1):c.576G>T (p.Glu192Asp)
|
|
|
NM_003114.5(SPAG1):c.631C>A (p.Arg211Ser)
|
|
|
NM_003114.5(SPAG1):c.631C>T (p.Arg211Cys)
|
|
|
NM_003114.5(SPAG1):c.640G>C (p.Glu214Gln)
|
|
|
NM_003114.5(SPAG1):c.683C>A (p.Ala228Glu)
|
|
|
NM_003114.5(SPAG1):c.724G>C (p.Val242Leu)
|
|
|
NM_003114.5(SPAG1):c.742C>G (p.Arg248Gly)
|
|
|
NM_003114.5(SPAG1):c.826G>A (p.Val276Ile)
|
rs556715100
|
|
NM_003114.5(SPAG1):c.851C>T (p.Thr284Ile)
|
rs2489341564
|
|
NM_003114.5(SPAG1):c.878G>A (p.Arg293Gln)
|
rs750321216
|
|
NM_003611.3(OFD1):c.1007dup (p.Ser337fs)
|
rs749448671
|
|
NM_003611.3(OFD1):c.1048C>T (p.Leu350Phe)
|
|
|
NM_003611.3(OFD1):c.1056-664C>G
|
rs1368545435
|
|
NM_003611.3(OFD1):c.1063C>T (p.Leu355Phe)
|
rs2518885758
|
|
NM_003611.3(OFD1):c.1087A>G (p.Ile363Val)
|
|
|
NM_003611.3(OFD1):c.1117_1121del (p.Arg373fs)
|
rs2518886212
|
|
NM_003611.3(OFD1):c.1183G>A (p.Glu395Lys)
|
rs2047655242
|
|
NM_003611.3(OFD1):c.1193_1196del (p.Gln398fs)
|
rs312262868
|
|
NM_003611.3(OFD1):c.124A>G (p.Asn42Asp)
|
rs1288427504
|
|
NM_003611.3(OFD1):c.1365A>G (p.Lys455=)
|
rs1395917057
|
|
NM_003611.3(OFD1):c.1370A>T (p.Gln457Leu)
|
|
|
NM_003611.3(OFD1):c.1399C>A (p.Arg467Ser)
|
rs140561107
|
|
NM_003611.3(OFD1):c.1508G>A (p.Cys503Tyr)
|
|
|
NM_003611.3(OFD1):c.1517C>G (p.Ala506Gly)
|
rs2518918934
|
|
NM_003611.3(OFD1):c.1616T>C (p.Val539Ala)
|
|
|
NM_003611.3(OFD1):c.1649A>T (p.Gln550Leu)
|
rs2047797164
|
|
NM_003611.3(OFD1):c.1662G>A (p.Glu554=)
|
rs1238971253
|
|
NM_003611.3(OFD1):c.1668A>C (p.Glu556Asp)
|
rs2047870882
|
|
NM_003611.3(OFD1):c.1678A>G (p.Asn560Asp)
|
|
|
NM_003611.3(OFD1):c.1822A>T (p.Ile608Phe)
|
|
|
NM_003611.3(OFD1):c.1992A>T (p.Pro664=)
|
rs2518939266
|
|
NM_003611.3(OFD1):c.2026C>G (p.Leu676Val)
|
rs2047884701
|
|
NM_003611.3(OFD1):c.2052C>G (p.Ser684=)
|
rs61742891
|
|
NM_003611.3(OFD1):c.2052C>T (p.Ser684=)
|
rs61742891
|
|
NM_003611.3(OFD1):c.2054G>A (p.Ser685Asn)
|
rs757518933
|
|
NM_003611.3(OFD1):c.2188T>A (p.Ser730Thr)
|
rs780934031
|
|
NM_003611.3(OFD1):c.2193C>T (p.Ser731=)
|
|
|
NM_003611.3(OFD1):c.2332T>G (p.Ser778Ala)
|
rs1306533962
|
|
NM_003611.3(OFD1):c.2372C>T (p.Pro791Leu)
|
rs753498008
|
|
NM_003611.3(OFD1):c.2373G>T (p.Pro791=)
|
rs369277849
|
|
NM_003611.3(OFD1):c.2402A>G (p.Gln801Arg)
|
|
|
NM_003611.3(OFD1):c.2408A>G (p.Glu803Gly)
|
rs1569155243
|
|
NM_003611.3(OFD1):c.2423G>A (p.Ser808Asn)
|
rs2518959928
|
|
NM_003611.3(OFD1):c.2595C>A (p.His865Gln)
|
rs2518971763
|
|
NM_003611.3(OFD1):c.2619T>A (p.Ile873=)
|
rs797045847
|
|
NM_003611.3(OFD1):c.2627A>G (p.Gln876Arg)
|
rs2518990412
|
|
NM_003611.3(OFD1):c.2631G>A (p.Lys877=)
|
rs797045848
|
|
NM_003611.3(OFD1):c.2655G>A (p.Gln885=)
|
rs2518990672
|
|
NM_003611.3(OFD1):c.2742A>T (p.Lys914Asn)
|
rs2518991323
|
|
NM_003611.3(OFD1):c.2758-4A>G
|
rs1555908820
|
|
NM_003611.3(OFD1):c.2775_2777del (p.Leu926del)
|
rs2518998265
|
|
NM_003611.3(OFD1):c.2789_2793del (p.Ile930fs)
|
rs797044945
|
|
NM_003611.3(OFD1):c.2813A>T (p.Asn938Ile)
|
rs747006685
|
|
NM_003611.3(OFD1):c.2862dup (p.Glu955Ter)
|
rs2147086302
|
|
NM_003611.3(OFD1):c.2867A>G (p.Asn956Ser)
|
rs2518998749
|
|
NM_003611.3(OFD1):c.2880A>G (p.Lys960=)
|
rs766349657
|
|
NM_003611.3(OFD1):c.2944G>A (p.Val982Ile)
|
rs2519003782
|
|
NM_003611.3(OFD1):c.2966A>T (p.Asp989Val)
|
rs2519004000
|
|
NM_003611.3(OFD1):c.2986A>G (p.Lys996Glu)
|
|
|
NM_003611.3(OFD1):c.3016G>C (p.Glu1006Gln)
|
rs2519007966
|
|
NM_003611.3(OFD1):c.3024A>C (p.Leu1008=)
|
rs1015323092
|
|
NM_003611.3(OFD1):c.3025G>C (p.Asp1009His)
|
rs2147090881
|
|
NM_003611.3(OFD1):c.3027C>G (p.Asp1009Glu)
|
rs758646234
|
|
NM_003611.3(OFD1):c.318T>G (p.Phe106Leu)
|
rs2518776515
|
|
NM_003611.3(OFD1):c.338A>G (p.Gln113Arg)
|
rs1555901135
|
|
NM_003611.3(OFD1):c.393del (p.Asp132fs)
|
rs2518777923
|
|
NM_003611.3(OFD1):c.42G>T (p.Leu14Phe)
|
rs1011201910
|
|
NM_003611.3(OFD1):c.450TCA[1] (p.His151del)
|
rs1569117650
|
|
NM_003611.3(OFD1):c.45T>A (p.Ser15Arg)
|
rs2518743083
|
|
NM_003611.3(OFD1):c.655-2A>G
|
rs1569122408
|
|
NM_003611.3(OFD1):c.681A>G (p.Ile227Met)
|
rs2518838476
|
|
NM_003611.3(OFD1):c.731T>C (p.Met244Thr)
|
rs1167911853
|
|
NM_003611.3(OFD1):c.787C>T (p.Arg263Trp)
|
|
|
NM_003611.3(OFD1):c.829-287del
|
rs35839446
|
|
NM_003611.3(OFD1):c.829-287dup
|
rs35839446
|
|
NM_003611.3(OFD1):c.829-288_829-287del
|
rs35839446
|
|
NM_003611.3(OFD1):c.870A>G (p.Leu290=)
|
rs2047422874
|
|
NM_003611.3(OFD1):c.909G>A (p.Leu303=)
|
rs2047424118
|
|
NM_003611.3(OFD1):c.935+1G>T
|
rs2518857883
|
|
NM_003611.3(OFD1):c.964A>G (p.Lys322Glu)
|
|
|
NM_012144.4(DNAI1):c.107G>C (p.Gly36Ala)
|
|
|
NM_012144.4(DNAI1):c.1081A>G (p.Ser361Gly)
|
rs1265872038
|
|
NM_012144.4(DNAI1):c.1204G>A (p.Gly402Ser)
|
rs746647838
|
|
NM_012144.4(DNAI1):c.1229T>C (p.Ile410Thr)
|
rs2492095956
|
|
NM_012144.4(DNAI1):c.1253C>G (p.Ser418Cys)
|
rs766607013
|
|
NM_012144.4(DNAI1):c.1265T>C (p.Phe422Ser)
|
rs1824942877
|
|
NM_012144.4(DNAI1):c.1265_1267del (p.Phe422del)
|
rs567346433
|
|
NM_012144.4(DNAI1):c.1295C>T (p.Ser432Leu)
|
rs2492096559
|
|
NM_012144.4(DNAI1):c.1297G>C (p.Asp433His)
|
rs2492096572
|
|
NM_012144.4(DNAI1):c.1328A>G (p.Asp443Gly)
|
rs2492114874
|
|
NM_012144.4(DNAI1):c.133T>G (p.Ser45Ala)
|
rs2492025513
|
|
NM_012144.4(DNAI1):c.1356C>G (p.Phe452Leu)
|
rs2492115117
|
|
NM_012144.4(DNAI1):c.1360G>C (p.Val454Leu)
|
|
|
NM_012144.4(DNAI1):c.1514A>G (p.His505Arg)
|
rs2492120817
|
|
NM_012144.4(DNAI1):c.152C>A (p.Pro51His)
|
|
|
NM_012144.4(DNAI1):c.1545C>T (p.Gly515=)
|
|
|
NM_012144.4(DNAI1):c.1558A>G (p.Lys520Glu)
|
rs766816816
|
|
NM_012144.4(DNAI1):c.1612G>A (p.Ala538Thr)
|
rs368248592
|
|
NM_012144.4(DNAI1):c.1623G>A (p.Met541Ile)
|
rs775854024
|
|
NM_012144.4(DNAI1):c.1724C>T (p.Pro575Leu)
|
rs921726236
|
|
NM_012144.4(DNAI1):c.1753G>A (p.Val585Met)
|
|
|
NM_012144.4(DNAI1):c.1823A>C (p.His608Pro)
|
rs778259447
|
|
NM_012144.4(DNAI1):c.1839C>T (p.Ala613=)
|
rs1454471693
|
|
NM_012144.4(DNAI1):c.1846A>G (p.Lys616Glu)
|
|
|
NM_012144.4(DNAI1):c.1871C>T (p.Pro624Leu)
|
|
|
NM_012144.4(DNAI1):c.1913A>C (p.Asn638Thr)
|
rs201773877
|
|
NM_012144.4(DNAI1):c.194_196dup (p.Phe66Ter)
|
rs1824451856
|
|
NM_012144.4(DNAI1):c.1972C>T (p.Leu658Phe)
|
|
|
NM_012144.4(DNAI1):c.1984T>C (p.Leu662=)
|
rs2132086682
|
|
NM_012144.4(DNAI1):c.2028G>A (p.Lys676=)
|
rs1377892484
|
|
NM_012144.4(DNAI1):c.202C>T (p.Arg68Trp)
|
rs759540568
|
|
NM_012144.4(DNAI1):c.2035G>C (p.Ala679Pro)
|
rs111887810
|
|
NM_012144.4(DNAI1):c.2048C>A (p.Ala683Glu)
|
rs535760702
|
|
NM_012144.4(DNAI1):c.228C>G (p.His76Gln)
|
|
|
NM_012144.4(DNAI1):c.22G>T (p.Ala8Ser)
|
rs11547035
|
|
NM_012144.4(DNAI1):c.304G>A (p.Val102Ile)
|
rs1824534808
|
|
NM_012144.4(DNAI1):c.336del (p.Asp114fs)
|
rs876657683
|
|
NM_012144.4(DNAI1):c.342del (p.Ser115fs)
|
rs2492032478
|
|
NM_012144.4(DNAI1):c.403G>A (p.Val135Ile)
|
rs754452989
|
|
NM_012144.4(DNAI1):c.470C>T (p.Pro157Leu)
|
rs1426141728
|
|
NM_012144.4(DNAI1):c.487G>C (p.Val163Leu)
|
|
|
NM_012144.4(DNAI1):c.48G>T (p.Gln16His)
|
rs2491983682
|
|
NM_012144.4(DNAI1):c.49A>G (p.Ser17Gly)
|
|
|
NM_012144.4(DNAI1):c.538C>T (p.Pro180Ser)
|
|
|
NM_012144.4(DNAI1):c.611A>G (p.Asn204Ser)
|
|
|
NM_012144.4(DNAI1):c.712C>A (p.Leu238Ile)
|
rs1275461623
|
|
NM_012144.4(DNAI1):c.755C>A (p.Thr252Asn)
|
|
|
NM_012144.4(DNAI1):c.76A>C (p.Lys26Gln)
|
|
|
NM_012144.4(DNAI1):c.806T>C (p.Met269Thr)
|
rs1564034204
|
|
NM_012144.4(DNAI1):c.814C>G (p.Gln272Glu)
|
rs1267340723
|
|
NM_012144.4(DNAI1):c.876G>C (p.Gln292His)
|
rs1291629888
|
|
NM_012144.4(DNAI1):c.896C>T (p.Ala299Val)
|
|
|
NM_012144.4(DNAI1):c.937C>T (p.Arg313Trp)
|
rs1285752841
|
|
NM_012144.4(DNAI1):c.944A>G (p.Gln315Arg)
|
rs1824814380
|
|
NM_012472.6(DNAAF11):c.1011A>G (p.Gln337=)
|
rs368167391
|
|
NM_012472.6(DNAAF11):c.1021G>A (p.Val341Met)
|
rs746914801
|
|
NM_012472.6(DNAAF11):c.106C>G (p.Leu36Val)
|
rs1412921217
|
|
NM_012472.6(DNAAF11):c.1117C>A (p.His373Asn)
|
rs765310271
|
|
NM_012472.6(DNAAF11):c.1138A>C (p.Lys380Gln)
|
rs916523057
|
|
NM_012472.6(DNAAF11):c.1148A>T (p.Glu383Val)
|
rs919823457
|
|
NM_012472.6(DNAAF11):c.1178A>C (p.Lys393Thr)
|
rs776429452
|
|
NM_012472.6(DNAAF11):c.1250_1262del (p.Glu417fs)
|
|
|
NM_012472.6(DNAAF11):c.1294G>A (p.Val432Ile)
|
|
|
NM_012472.6(DNAAF11):c.1328C>T (p.Pro443Leu)
|
rs2537458736
|
|
NM_012472.6(DNAAF11):c.1390C>T (p.Pro464Ser)
|
rs2537457957
|
|
NM_012472.6(DNAAF11):c.187A>G (p.Ser63Gly)
|
|
|
NM_012472.6(DNAAF11):c.272C>T (p.Ala91Val)
|
|
|
NM_012472.6(DNAAF11):c.316A>G (p.Ile106Val)
|
|
|
NM_012472.6(DNAAF11):c.328C>T (p.Gln110Ter)
|
rs777779770
|
|
NM_012472.6(DNAAF11):c.448A>G (p.Ile150Val)
|
|
|
NM_012472.6(DNAAF11):c.574C>G (p.Gln192Glu)
|
rs141945265
|
|
NM_012472.6(DNAAF11):c.630del (p.Trp210fs)
|
rs760123202
|
|
NM_012472.6(DNAAF11):c.640A>T (p.Ile214Phe)
|
|
|
NM_012472.6(DNAAF11):c.66C>T (p.Ser22=)
|
rs200925027
|
|
NM_012472.6(DNAAF11):c.6C>A (p.Gly2=)
|
rs144399982
|
|
NM_012472.6(DNAAF11):c.712A>G (p.Lys238Glu)
|
|
|
NM_012472.6(DNAAF11):c.721G>C (p.Asp241His)
|
|
|
NM_012472.6(DNAAF11):c.727A>C (p.Ser243Arg)
|
|
|
NM_012472.6(DNAAF11):c.79_80del (p.Ser27fs)
|
rs769220870
|
|
NM_012472.6(DNAAF11):c.800A>C (p.His267Pro)
|
|
|
NM_012472.6(DNAAF11):c.802A>G (p.Met268Val)
|
rs1483225382
|
|
NM_012472.6(DNAAF11):c.810A>C (p.Lys270Asn)
|
|
|
NM_012472.6(DNAAF11):c.853G>C (p.Val285Leu)
|
rs901919367
|
|
NM_012472.6(DNAAF11):c.906T>G (p.Asn302Lys)
|
|
|
NM_012472.6(DNAAF11):c.936_937del (p.Asp312fs)
|
rs1586586381
|
|
NM_012472.6(DNAAF11):c.971A>G (p.Tyr324Cys)
|
|
|
NM_016616.5(NME8):c.1006C>T (p.Arg336Cys)
|
rs751830410
|
|
NM_016616.5(NME8):c.1007G>A (p.Arg336His)
|
rs62001869
|
|
NM_016616.5(NME8):c.1019A>T (p.Asp340Val)
|
|
|
NM_016616.5(NME8):c.1175A>G (p.Asn392Ser)
|
rs2483659542
|
|
NM_016616.5(NME8):c.1208C>G (p.Pro403Arg)
|
rs2483659595
|
|
NM_016616.5(NME8):c.1265C>G (p.Ala422Gly)
|
rs117675957
|
|
NM_016616.5(NME8):c.1354A>G (p.Ser452Gly)
|
rs2483663797
|
|
NM_016616.5(NME8):c.1358C>T (p.Thr453Ile)
|
|
|
NM_016616.5(NME8):c.1359_1362dup (p.Gly455fs)
|
rs2483663806
|
|
NM_016616.5(NME8):c.138A>G (p.Gln46=)
|
rs2483605618
|
|
NM_016616.5(NME8):c.144A>T (p.Leu48Phe)
|
rs199848335
|
|
NM_016616.5(NME8):c.1478_1479delinsCT (p.Ile493Thr)
|
rs386712272
|
|
NM_016616.5(NME8):c.1502C>T (p.Thr501Ile)
|
|
|
NM_016616.5(NME8):c.1510G>A (p.Asp504Asn)
|
rs774793704
|
|
NM_016616.5(NME8):c.1515T>C (p.Phe505=)
|
rs2483672641
|
|
NM_016616.5(NME8):c.1546G>C (p.Gly516Arg)
|
|
|
NM_016616.5(NME8):c.1589C>T (p.Ala530Val)
|
rs372034141
|
|
NM_016616.5(NME8):c.1600C>T (p.Arg534Ter)
|
rs142525551
|
|
NM_016616.5(NME8):c.1622C>A (p.Pro541Gln)
|
rs2483676426
|
|
NM_016616.5(NME8):c.1645C>T (p.Pro549Ser)
|
rs2483676466
|
|
NM_016616.5(NME8):c.1689C>T (p.Asn563=)
|
rs138317061
|
|
NM_016616.5(NME8):c.1743C>A (p.Leu581=)
|
rs764326102
|
|
NM_016616.5(NME8):c.1743C>T (p.Leu581=)
|
rs764326102
|
|
NM_016616.5(NME8):c.178G>A (p.Glu60Lys)
|
|
|
NM_016616.5(NME8):c.206C>G (p.Ala69Gly)
|
rs2483614975
|
|
NM_016616.5(NME8):c.244T>C (p.Cys82Arg)
|
|
|
NM_016616.5(NME8):c.290A>G (p.Lys97Arg)
|
|
|
NM_016616.5(NME8):c.299G>C (p.Gly100Ala)
|
rs2483621383
|
|
NM_016616.5(NME8):c.328G>A (p.Val110Ile)
|
|
|
NM_016616.5(NME8):c.342C>T (p.Ile114=)
|
rs199734697
|
|
NM_016616.5(NME8):c.374T>C (p.Met125Thr)
|
rs1336163948
|
|
NM_016616.5(NME8):c.380G>A (p.Arg127Gln)
|
|
|
NM_016616.5(NME8):c.454+1G>A
|
rs538425312
|
|
NM_016616.5(NME8):c.478A>G (p.Ile160Val)
|
|
|
NM_016616.5(NME8):c.4G>A (p.Ala2Thr)
|
|
|
NM_016616.5(NME8):c.574C>T (p.Leu192Phe)
|
rs2483627782
|
|
NM_016616.5(NME8):c.587A>C (p.Gln196Pro)
|
rs2483627846
|
|
NM_016616.5(NME8):c.602A>G (p.Tyr201Cys)
|
|
|
NM_016616.5(NME8):c.607C>T (p.Arg203Ter)
|
rs142023810
|
|
NM_016616.5(NME8):c.617A>C (p.Asp206Ala)
|
rs2483628086
|
|
NM_016616.5(NME8):c.623G>A (p.Cys208Tyr)
|
rs751518399
|
|
NM_016616.5(NME8):c.635_636del (p.Glu212fs)
|
|
|
NM_016616.5(NME8):c.695A>G (p.Lys232Arg)
|
rs768771084
|
|
NM_016616.5(NME8):c.763C>A (p.Gln255Lys)
|
rs867863283
|
|
NM_016616.5(NME8):c.818+4T>A
|
rs2483632397
|
|
NM_016616.5(NME8):c.859T>C (p.Cys287Arg)
|
|
|
NM_016616.5(NME8):c.913C>T (p.Pro305Ser)
|
rs779061373
|
|
NM_016616.5(NME8):c.946G>C (p.Glu316Gln)
|
|
|
NM_016616.5(NME8):c.97G>C (p.Asp33His)
|
rs1314343023
|
|
NM_016616.5(NME8):c.984T>C (p.His328=)
|
|
|
NM_017802.4(DNAAF5):c.1000A>C (p.Thr334Pro)
|
rs1184837316
|
|
NM_017802.4(DNAAF5):c.1005A>C (p.Pro335=)
|
rs1164717028
|
|
NM_017802.4(DNAAF5):c.1028G>A (p.Arg343His)
|
|
|
NM_017802.4(DNAAF5):c.1042G>T (p.Gly348Cys)
|
rs1782423731
|
|
NM_017802.4(DNAAF5):c.114G>T (p.Leu38=)
|
rs1411422606
|
|
NM_017802.4(DNAAF5):c.1215G>A (p.Leu405=)
|
rs2484101697
|
|
NM_017802.4(DNAAF5):c.1239G>T (p.Glu413Asp)
|
rs776506185
|
|
NM_017802.4(DNAAF5):c.1244C>T (p.Ala415Val)
|
|
|
NM_017802.4(DNAAF5):c.1261A>G (p.Thr421Ala)
|
|
|
NM_017802.4(DNAAF5):c.1270G>T (p.Ala424Ser)
|
rs141828030
|
|
NM_017802.4(DNAAF5):c.1279G>T (p.Val427Phe)
|
rs372983996
|
|
NM_017802.4(DNAAF5):c.1311G>C (p.Leu437=)
|
rs1008026692
|
|
NM_017802.4(DNAAF5):c.1324T>C (p.Ser442Pro)
|
|
|
NM_017802.4(DNAAF5):c.1403T>A (p.Leu468His)
|
|
|
NM_017802.4(DNAAF5):c.1473C>T (p.Asp491=)
|
|
|
NM_017802.4(DNAAF5):c.1495C>A (p.Leu499Met)
|
rs748956616
|
|
NM_017802.4(DNAAF5):c.1508C>T (p.Ala503Val)
|
rs367962150
|
|
NM_017802.4(DNAAF5):c.1526A>G (p.His509Arg)
|
|
|
NM_017802.4(DNAAF5):c.1533C>G (p.Asp511Glu)
|
|
|
NM_017802.4(DNAAF5):c.1569G>C (p.Leu523=)
|
|
|
NM_017802.4(DNAAF5):c.160C>G (p.Arg54Gly)
|
rs1245470608
|
|
NM_017802.4(DNAAF5):c.1652G>T (p.Gly551Val)
|
rs1482588393
|
|
NM_017802.4(DNAAF5):c.1713C>G (p.Thr571=)
|
rs200806559
|
|
NM_017802.4(DNAAF5):c.1763G>T (p.Ser588Ile)
|
|
|
NM_017802.4(DNAAF5):c.1773C>T (p.Val591=)
|
rs185154075
|
|
NM_017802.4(DNAAF5):c.1823C>G (p.Thr608Arg)
|
rs201903719
|
|
NM_017802.4(DNAAF5):c.1823C>T (p.Thr608Met)
|
rs201903719
|
|
NM_017802.4(DNAAF5):c.1893_1895delinsTGC (p.Val632Ala)
|
rs2484154327
|
|
NM_017802.4(DNAAF5):c.190G>A (p.Ala64Thr)
|
rs1353152566
|
|
NM_017802.4(DNAAF5):c.1910C>G (p.Thr637Arg)
|
rs776818388
|
|
NM_017802.4(DNAAF5):c.1910C>T (p.Thr637Met)
|
|
|
NM_017802.4(DNAAF5):c.191C>G (p.Ala64Gly)
|
rs2484001484
|
|
NM_017802.4(DNAAF5):c.1928A>C (p.Gln643Pro)
|
rs766203309
|
|
NM_017802.4(DNAAF5):c.2012C>T (p.Ala671Val)
|
|
|
NM_017802.4(DNAAF5):c.2021G>T (p.Arg674Leu)
|
rs1334255725
|
|
NM_017802.4(DNAAF5):c.2045G>T (p.Trp682Leu)
|
|
|
NM_017802.4(DNAAF5):c.2093T>G (p.Val698Gly)
|
|
|
NM_017802.4(DNAAF5):c.20C>T (p.Ala7Val)
|
|
|
NM_017802.4(DNAAF5):c.2138A>G (p.Asp713Gly)
|
rs2484170379
|
|
NM_017802.4(DNAAF5):c.214C>T (p.Pro72Ser)
|
rs1781324413
|
|
NM_017802.4(DNAAF5):c.2150C>T (p.Thr717Met)
|
|
|
NM_017802.4(DNAAF5):c.2168G>A (p.Arg723His)
|
rs756813208
|
|
NM_017802.4(DNAAF5):c.2180C>T (p.Thr727Met)
|
|
|
NM_017802.4(DNAAF5):c.223C>T (p.Arg75Cys)
|
|
|
NM_017802.4(DNAAF5):c.2261A>T (p.Asp754Val)
|
|
|
NM_017802.4(DNAAF5):c.2272G>T (p.Asp758Tyr)
|
rs1442257044
|
|
NM_017802.4(DNAAF5):c.230T>C (p.Leu77Pro)
|
rs2484001960
|
|
NM_017802.4(DNAAF5):c.2340A>C (p.Lys780Asn)
|
rs2484185137
|
|
NM_017802.4(DNAAF5):c.2364G>A (p.Gln788=)
|
rs1778886118
|
|
NM_017802.4(DNAAF5):c.2379G>T (p.Glu793Asp)
|
rs1487211423
|
|
NM_017802.4(DNAAF5):c.2403A>G (p.Pro801=)
|
|
|
NM_017802.4(DNAAF5):c.345G>A (p.Pro115=)
|
rs2484003438
|
|
NM_017802.4(DNAAF5):c.360G>C (p.Ala120=)
|
rs1562369494
|
|
NM_017802.4(DNAAF5):c.394C>T (p.Arg132Cys)
|
rs1781344613
|
|
NM_017802.4(DNAAF5):c.406G>C (p.Glu136Gln)
|
rs1781345604
|
|
NM_017802.4(DNAAF5):c.431C>A (p.Ala144Glu)
|
rs1781348425
|
|
NM_017802.4(DNAAF5):c.436G>C (p.Val146Leu)
|
|
|
NM_017802.4(DNAAF5):c.449G>A (p.Gly150Asp)
|
|
|
NM_017802.4(DNAAF5):c.44C>T (p.Pro15Leu)
|
|
|
NM_017802.4(DNAAF5):c.454G>T (p.Ala152Ser)
|
rs981760144
|
|
NM_017802.4(DNAAF5):c.482C>T (p.Ala161Val)
|
|
|
NM_017802.4(DNAAF5):c.515G>T (p.Arg172Leu)
|
|
|
NM_017802.4(DNAAF5):c.518G>A (p.Cys173Tyr)
|
rs1000122338
|
|
NM_017802.4(DNAAF5):c.520T>G (p.Ser174Ala)
|
rs2484006271
|
|
NM_017802.4(DNAAF5):c.526C>T (p.Leu176Phe)
|
rs1376001457
|
|
NM_017802.4(DNAAF5):c.528C>G (p.Leu176=)
|
rs1358007541
|
|
NM_017802.4(DNAAF5):c.533C>T (p.Pro178Leu)
|
rs1781359027
|
|
NM_017802.4(DNAAF5):c.543C>G (p.Ala181=)
|
rs768388987
|
|
NM_017802.4(DNAAF5):c.543C>T (p.Ala181=)
|
rs768388987
|
|
NM_017802.4(DNAAF5):c.619T>C (p.Ser207Pro)
|
rs1781500803
|
|
NM_017802.4(DNAAF5):c.627C>T (p.Ile209=)
|
rs370516537
|
|
NM_017802.4(DNAAF5):c.628G>A (p.Gly210Arg)
|
rs767022738
|
|
NM_017802.4(DNAAF5):c.65C>T (p.Ala22Val)
|
rs2483999554
|
|
NM_017802.4(DNAAF5):c.663G>C (p.Trp221Cys)
|
|
|
NM_017802.4(DNAAF5):c.673G>A (p.Val225Met)
|
rs2484023725
|
|
NM_017802.4(DNAAF5):c.707A>T (p.His236Leu)
|
rs115058579
|
|
NM_017802.4(DNAAF5):c.733G>A (p.Asp245Asn)
|
rs760523022
|
|
NM_017802.4(DNAAF5):c.777G>A (p.Pro259=)
|
rs146014916
|
|
NM_017802.4(DNAAF5):c.777G>T (p.Pro259=)
|
rs146014916
|
|
NM_017802.4(DNAAF5):c.788G>A (p.Arg263Gln)
|
rs201059622
|
|
NM_017802.4(DNAAF5):c.808G>T (p.Gly270Cys)
|
rs1781883973
|
|
NM_017802.4(DNAAF5):c.830G>A (p.Arg277His)
|
rs760388668
|
|
NM_017802.4(DNAAF5):c.832G>A (p.Asp278Asn)
|
rs1583482252
|
|
NM_017802.4(DNAAF5):c.839A>T (p.Tyr280Phe)
|
rs1319964858
|
|
NM_017802.4(DNAAF5):c.889G>A (p.Glu297Lys)
|
rs753466171
|
|
NM_017802.4(DNAAF5):c.8C>T (p.Ala3Val)
|
|
|
NM_017802.4(DNAAF5):c.920G>C (p.Ser307Thr)
|
|
|
NM_017802.4(DNAAF5):c.996T>C (p.Pro332=)
|
rs746745698
|
|
NM_017950.4(CCDC40):c.1052G>T (p.Arg351Leu)
|
rs61736668
|
|
NM_017950.4(CCDC40):c.1058C>T (p.Ala353Val)
|
rs1456723089
|
|
NM_017950.4(CCDC40):c.1068G>C (p.Ser356=)
|
rs377156300
|
|
NM_017950.4(CCDC40):c.1085A>T (p.Lys362Met)
|
rs2143617296
|
|
NM_017950.4(CCDC40):c.1111G>A (p.Ala371Thr)
|
rs1198869526
|
|
NM_017950.4(CCDC40):c.1114C>T (p.Leu372Phe)
|
rs2510290636
|
|
NM_017950.4(CCDC40):c.1181T>C (p.Met394Thr)
|
|
|
NM_017950.4(CCDC40):c.11C>T (p.Pro4Leu)
|
rs776947186
|
|
NM_017950.4(CCDC40):c.1233dup (p.Arg412fs)
|
rs2510295858
|
|
NM_017950.4(CCDC40):c.1249G>T (p.Val417Leu)
|
rs535461092
|
|
NM_017950.4(CCDC40):c.1276G>T (p.Glu426Ter)
|
rs775299709
|
|
NM_017950.4(CCDC40):c.1354C>A (p.Gln452Lys)
|
rs760026148
|
|
NM_017950.4(CCDC40):c.137C>A (p.Ala46Asp)
|
rs1380024404
|
|
NM_017950.4(CCDC40):c.1390T>A (p.Tyr464Asn)
|
rs2143650651
|
|
NM_017950.4(CCDC40):c.1416del (p.Ile473fs)
|
rs764011276
|
|
NM_017950.4(CCDC40):c.1467C>A (p.Ser489Arg)
|
rs200154414
|
|
NM_017950.4(CCDC40):c.1472A>G (p.Glu491Gly)
|
|
|
NM_017950.4(CCDC40):c.1495T>C (p.Trp499Arg)
|
rs759586308
|
|
NM_017950.4(CCDC40):c.151G>A (p.Glu51Lys)
|
|
|
NM_017950.4(CCDC40):c.1530C>T (p.Asp510=)
|
rs368929374
|
|
NM_017950.4(CCDC40):c.1531G>A (p.Glu511Lys)
|
rs59978698
|
|
NM_017950.4(CCDC40):c.1531G>C (p.Glu511Gln)
|
rs59978698
|
|
NM_017950.4(CCDC40):c.1575T>G (p.His525Gln)
|
rs757226965
|
|
NM_017950.4(CCDC40):c.1595G>A (p.Gly532Asp)
|
|
|
NM_017950.4(CCDC40):c.1625T>A (p.Met542Lys)
|
rs1795338173
|
|
NM_017950.4(CCDC40):c.1702C>T (p.Leu568Phe)
|
rs2510311931
|
|
NM_017950.4(CCDC40):c.1709C>G (p.Thr570Ser)
|
|
|
NM_017950.4(CCDC40):c.1715G>C (p.Cys572Ser)
|
rs2510311945
|
|
NM_017950.4(CCDC40):c.175C>G (p.Gln59Glu)
|
rs2510283834
|
|
NM_017950.4(CCDC40):c.1766C>A (p.Thr589Asn)
|
|
|
NM_017950.4(CCDC40):c.1797G>C (p.Gln599His)
|
rs1243700649
|
|
NM_017950.4(CCDC40):c.1844G>A (p.Arg615His)
|
|
|
NM_017950.4(CCDC40):c.1889_1890delinsTG (p.Ala630Val)
|
rs386799737
|
|
NM_017950.4(CCDC40):c.198G>T (p.Glu66Asp)
|
rs2510283879
|
|
NM_017950.4(CCDC40):c.206T>A (p.Val69Glu)
|
|
|
NM_017950.4(CCDC40):c.2169C>A (p.Ile723=)
|
rs200641382
|
|
NM_017950.4(CCDC40):c.2174G>A (p.Arg725Lys)
|
|
|
NM_017950.4(CCDC40):c.2239G>A (p.Glu747Lys)
|
rs2510315200
|
|
NM_017950.4(CCDC40):c.2290G>A (p.Asp764Asn)
|
|
|
NM_017950.4(CCDC40):c.2381A>G (p.Gln794Arg)
|
|
|
NM_017950.4(CCDC40):c.2408del (p.Lys803fs)
|
rs2510315381
|
|
NM_017950.4(CCDC40):c.2444T>C (p.Val815Ala)
|
|
|
NM_017950.4(CCDC40):c.2499G>C (p.Met833Ile)
|
rs2038615301
|
|
NM_017950.4(CCDC40):c.2572G>C (p.Glu858Gln)
|
rs2510317223
|
|
NM_017950.4(CCDC40):c.2576A>G (p.Gln859Arg)
|
|
|
NM_017950.4(CCDC40):c.2581A>C (p.Asn861His)
|
|
|
NM_017950.4(CCDC40):c.2627A>G (p.Glu876Gly)
|
rs779799111
|
|
NM_017950.4(CCDC40):c.2638A>G (p.Ile880Val)
|
rs1255622317
|
|
NM_017950.4(CCDC40):c.2669G>T (p.Ser890Ile)
|
rs748686060
|
|
NM_017950.4(CCDC40):c.2712-1G>T
|
rs370706991
|
|
NM_017950.4(CCDC40):c.2741T>G (p.Ile914Ser)
|
|
|
NM_017950.4(CCDC40):c.2761C>T (p.Arg921Cys)
|
rs1052358414
|
|
NM_017950.4(CCDC40):c.2801G>A (p.Arg934Gln)
|
rs143374313
|
|
NM_017950.4(CCDC40):c.2821C>T (p.His941Tyr)
|
rs2510320247
|
|
NM_017950.4(CCDC40):c.2836A>G (p.Arg946Gly)
|
rs2143775943
|
|
NM_017950.4(CCDC40):c.2852dup (p.Lys952fs)
|
rs878855042
|
|
NM_017950.4(CCDC40):c.2867A>G (p.Lys956Arg)
|
|
|
NM_017950.4(CCDC40):c.2875C>G (p.Arg959Gly)
|
|
|
NM_017950.4(CCDC40):c.2875C>T (p.Arg959Cys)
|
|
|
NM_017950.4(CCDC40):c.2900G>A (p.Arg967His)
|
rs61686936
|
|
NM_017950.4(CCDC40):c.2900G>T (p.Arg967Leu)
|
rs61686936
|
|
NM_017950.4(CCDC40):c.2907G>C (p.Glu969Asp)
|
rs745594044
|
|
NM_017950.4(CCDC40):c.2929G>T (p.Gly977Trp)
|
rs2510324619
|
|
NM_017950.4(CCDC40):c.2938A>G (p.Lys980Glu)
|
rs2510324625
|
|
NM_017950.4(CCDC40):c.2947A>G (p.Arg983Gly)
|
rs1486454255
|
|
NM_017950.4(CCDC40):c.2963G>C (p.Arg988Pro)
|
|
|
NM_017950.4(CCDC40):c.2995C>T (p.Arg999Cys)
|
rs546342011
|
|
NM_017950.4(CCDC40):c.2998C>T (p.Arg1000Trp)
|
rs769341555
|
|
NM_017950.4(CCDC40):c.3027C>A (p.Thr1009=)
|
rs79588289
|
|
NM_017950.4(CCDC40):c.3028_3030delinsAAC (p.Asp1010Asn)
|
rs2510325952
|
|
NM_017950.4(CCDC40):c.3031G>A (p.Glu1011Lys)
|
|
|
NM_017950.4(CCDC40):c.3061G>A (p.Glu1021Lys)
|
rs2510325996
|
|
NM_017950.4(CCDC40):c.3144G>C (p.Glu1048Asp)
|
|
|
NM_017950.4(CCDC40):c.3150C>A (p.Asp1050Glu)
|
rs1359351908
|
|
NM_017950.4(CCDC40):c.3158G>A (p.Arg1053Gln)
|
|
|
NM_017950.4(CCDC40):c.3173A>C (p.Lys1058Thr)
|
rs2510326098
|
|
NM_017950.4(CCDC40):c.3195C>T (p.Ile1065=)
|
|
|
NM_017950.4(CCDC40):c.3198G>A (p.Val1066=)
|
rs1474065129
|
|
NM_017950.4(CCDC40):c.3211C>T (p.Arg1071Cys)
|
|
|
NM_017950.4(CCDC40):c.3299T>A (p.Leu1100Gln)
|
|
|
NM_017950.4(CCDC40):c.3338G>A (p.Arg1113His)
|
rs368814379
|
|
NM_017950.4(CCDC40):c.3343C>T (p.Arg1115Trp)
|
|
|
NM_017950.4(CCDC40):c.336G>T (p.Thr112=)
|
rs539062213
|
|
NM_017950.4(CCDC40):c.3384C>T (p.Val1128=)
|
|
|
NM_017950.4(CCDC40):c.3411G>C (p.Glu1137Asp)
|
rs1055476091
|
|
NM_017950.4(CCDC40):c.3416C>A (p.Pro1139Gln)
|
rs935581287
|
|
NM_017950.4(CCDC40):c.406G>A (p.Ala136Thr)
|
|
|
NM_017950.4(CCDC40):c.440G>C (p.Gly147Ala)
|
rs2510284247
|
|
NM_017950.4(CCDC40):c.490G>A (p.Gly164Arg)
|
rs770564150
|
|
NM_017950.4(CCDC40):c.490G>C (p.Gly164Arg)
|
rs770564150
|
|
NM_017950.4(CCDC40):c.503C>T (p.Pro168Leu)
|
|
|
NM_017950.4(CCDC40):c.511C>A (p.Gln171Lys)
|
rs2143578223
|
|
NM_017950.4(CCDC40):c.518G>A (p.Gly173Asp)
|
|
|
NM_017950.4(CCDC40):c.564A>G (p.Thr188=)
|
rs2037448406
|
|
NM_017950.4(CCDC40):c.613C>T (p.Arg205Trp)
|
rs753704549
|
|
NM_017950.4(CCDC40):c.648C>A (p.Asp216Glu)
|
rs375350606
|
|
NM_017950.4(CCDC40):c.694C>T (p.Pro232Ser)
|
rs2510289266
|
|
NM_017950.4(CCDC40):c.856C>A (p.Pro286Thr)
|
rs1313722298
|
|
NM_017950.4(CCDC40):c.940-1G>C
|
rs2037540861
|
|
NM_017950.4(CCDC40):c.970C>T (p.Arg324Trp)
|
rs777362493
|
|
NM_018076.5(ODAD2):c.1047G>C (p.Arg349Ser)
|
|
|
NM_018076.5(ODAD2):c.11C>T (p.Ala4Val)
|
rs1481960552
|
|
NM_018076.5(ODAD2):c.1237C>T (p.Arg413Trp)
|
|
|
NM_018076.5(ODAD2):c.1237_1238delinsGA (p.Arg413Glu)
|
rs2494100802
|
|
NM_018076.5(ODAD2):c.126C>G (p.Ile42Met)
|
|
|
NM_018076.5(ODAD2):c.1273G>T (p.Asp425Tyr)
|
rs147175768
|
|
NM_018076.5(ODAD2):c.1301A>G (p.Glu434Gly)
|
|
|
NM_018076.5(ODAD2):c.1302A>T (p.Glu434Asp)
|
|
|
NM_018076.5(ODAD2):c.1318C>A (p.Arg440Ser)
|
rs376424270
|
|
NM_018076.5(ODAD2):c.1320T>C (p.Arg440=)
|
rs2493970986
|
|
NM_018076.5(ODAD2):c.1331G>A (p.Ser444Asn)
|
rs1295997421
|
|
NM_018076.5(ODAD2):c.1349A>G (p.Glu450Gly)
|
|
|
NM_018076.5(ODAD2):c.135T>C (p.His45=)
|
|
|
NM_018076.5(ODAD2):c.139C>G (p.Gln47Glu)
|
rs1850468491
|
|
NM_018076.5(ODAD2):c.1473A>T (p.Arg491Ser)
|
rs894563035
|
|
NM_018076.5(ODAD2):c.1514C>G (p.Thr505Ser)
|
|
|
NM_018076.5(ODAD2):c.1567C>T (p.His523Tyr)
|
rs770607602
|
|
NM_018076.5(ODAD2):c.160G>A (p.Val54Met)
|
|
|
NM_018076.5(ODAD2):c.1652T>C (p.Leu551Pro)
|
rs2493666665
|
|
NM_018076.5(ODAD2):c.1669G>A (p.Glu557Lys)
|
rs145742175
|
|
NM_018076.5(ODAD2):c.1752A>G (p.Leu584=)
|
rs368560892
|
|
NM_018076.5(ODAD2):c.1788A>T (p.Gln596His)
|
|
|
NM_018076.5(ODAD2):c.183A>G (p.Thr61=)
|
|
|
NM_018076.5(ODAD2):c.1862G>A (p.Ser621Asn)
|
rs1216485414
|
|
NM_018076.5(ODAD2):c.1880C>T (p.Ala627Val)
|
rs1284196183
|
|
NM_018076.5(ODAD2):c.1886G>A (p.Arg629His)
|
rs200127444
|
|
NM_018076.5(ODAD2):c.1888A>G (p.Lys630Glu)
|
|
|
NM_018076.5(ODAD2):c.1898G>A (p.Gly633Asp)
|
|
|
NM_018076.5(ODAD2):c.1915C>G (p.Arg639Gly)
|
rs1177855134
|
|
NM_018076.5(ODAD2):c.1996C>T (p.Arg666Trp)
|
|
|
NM_018076.5(ODAD2):c.1997G>A (p.Arg666Gln)
|
rs35472668
|
|
NM_018076.5(ODAD2):c.1997G>C (p.Arg666Pro)
|
rs35472668
|
|
NM_018076.5(ODAD2):c.200C>A (p.Ala67Glu)
|
rs2494554932
|
|
NM_018076.5(ODAD2):c.2071G>A (p.Glu691Lys)
|
|
|
NM_018076.5(ODAD2):c.2080G>A (p.Ala694Thr)
|
rs556371991
|
|
NM_018076.5(ODAD2):c.2080G>C (p.Ala694Pro)
|
rs556371991
|
|
NM_018076.5(ODAD2):c.2125C>T (p.Leu709Phe)
|
rs1379776041
|
|
NM_018076.5(ODAD2):c.2154C>T (p.Pro718=)
|
rs1270480857
|
|
NM_018076.5(ODAD2):c.2171A>G (p.Asn724Ser)
|
|
|
NM_018076.5(ODAD2):c.2244T>C (p.Asn748=)
|
|
|
NM_018076.5(ODAD2):c.2249C>T (p.Thr750Ile)
|
rs772725937
|
|
NM_018076.5(ODAD2):c.2294T>C (p.Leu765Pro)
|
|
|
NM_018076.5(ODAD2):c.2306C>A (p.Pro769His)
|
rs117515566
|
|
NM_018076.5(ODAD2):c.2306C>T (p.Pro769Leu)
|
rs117515566
|
|
NM_018076.5(ODAD2):c.233C>T (p.Thr78Ile)
|
rs2494440893
|
|
NM_018076.5(ODAD2):c.2381G>A (p.Arg794Gln)
|
|
|
NM_018076.5(ODAD2):c.2401C>A (p.Pro801Thr)
|
|
|
NM_018076.5(ODAD2):c.2503G>A (p.Asp835Asn)
|
|
|
NM_018076.5(ODAD2):c.2510T>C (p.Leu837Ser)
|
rs2492989168
|
|
NM_018076.5(ODAD2):c.251T>C (p.Val84Ala)
|
rs549455667
|
|
NM_018076.5(ODAD2):c.2521C>T (p.Arg841Cys)
|
|
|
NM_018076.5(ODAD2):c.2525T>C (p.Leu842Ser)
|
|
|
NM_018076.5(ODAD2):c.2554C>A (p.Pro852Thr)
|
rs1484451921
|
|
NM_018076.5(ODAD2):c.2559C>G (p.Asp853Glu)
|
|
|
NM_018076.5(ODAD2):c.2593T>C (p.Cys865Arg)
|
rs756624052
|
|
NM_018076.5(ODAD2):c.2599A>G (p.Lys867Glu)
|
rs2492985111
|
|
NM_018076.5(ODAD2):c.2603A>G (p.Asn868Ser)
|
rs2492985037
|
|
NM_018076.5(ODAD2):c.2615C>A (p.Ala872Asp)
|
|
|
NM_018076.5(ODAD2):c.262G>A (p.Gly88Arg)
|
|
|
NM_018076.5(ODAD2):c.2638G>A (p.Val880Ile)
|
rs775157474
|
|
NM_018076.5(ODAD2):c.2663A>G (p.Asn888Ser)
|
rs1219362986
|
|
NM_018076.5(ODAD2):c.2695G>A (p.Ala899Thr)
|
|
|
NM_018076.5(ODAD2):c.2698A>G (p.Ser900Gly)
|
rs2491964873
|
|
NM_018076.5(ODAD2):c.27G>T (p.Thr9=)
|
rs139724964
|
|
NM_018076.5(ODAD2):c.2807A>G (p.Asn936Ser)
|
|
|
NM_018076.5(ODAD2):c.2851A>G (p.Met951Val)
|
|
|
NM_018076.5(ODAD2):c.2884C>T (p.His962Tyr)
|
rs1369854961
|
|
NM_018076.5(ODAD2):c.2908C>A (p.Arg970Ser)
|
rs776293552
|
|
NM_018076.5(ODAD2):c.2908C>T (p.Arg970Cys)
|
rs776293552
|
|
NM_018076.5(ODAD2):c.2923A>C (p.Asn975His)
|
rs145526722
|
|
NM_018076.5(ODAD2):c.2923A>G (p.Asn975Asp)
|
rs145526722
|
|
NM_018076.5(ODAD2):c.2942G>A (p.Arg981Gln)
|
rs139741736
|
|
NM_018076.5(ODAD2):c.2942G>T (p.Arg981Leu)
|
rs139741736
|
|
NM_018076.5(ODAD2):c.2946G>A (p.Ala982=)
|
rs371338930
|
|
NM_018076.5(ODAD2):c.2981C>G (p.Ala994Gly)
|
rs2491937747
|
|
NM_018076.5(ODAD2):c.3000G>A (p.Met1000Ile)
|
rs2491937025
|
|
NM_018076.5(ODAD2):c.3031_3037del (p.Asp1011fs)
|
rs2132709474
|
|
NM_018076.5(ODAD2):c.3044C>A (p.Ser1015Tyr)
|
rs754214367
|
|
NM_018076.5(ODAD2):c.3053A>G (p.Gln1018Arg)
|
rs1176150216
|
|
NM_018076.5(ODAD2):c.3059T>C (p.Leu1020Pro)
|
|
|
NM_018076.5(ODAD2):c.3095G>A (p.Arg1032His)
|
rs375622560
|
|
NM_018076.5(ODAD2):c.3106C>T (p.Leu1036Phe)
|
|
|
NM_018076.5(ODAD2):c.3121G>A (p.Ala1041Thr)
|
rs3737184
|
|
NM_018076.5(ODAD2):c.367C>G (p.Gln123Glu)
|
|
|
NM_018076.5(ODAD2):c.37G>A (p.Ala13Thr)
|
|
|
NM_018076.5(ODAD2):c.395_396del (p.Pro132fs)
|
rs1277709050
|
|
NM_018076.5(ODAD2):c.401T>G (p.Val134Gly)
|
rs2494405088
|
|
NM_018076.5(ODAD2):c.432G>T (p.Met144Ile)
|
|
|
NM_018076.5(ODAD2):c.435A>T (p.Lys145Asn)
|
rs748854227
|
|
NM_018076.5(ODAD2):c.492A>C (p.Glu164Asp)
|
rs1849794491
|
|
NM_018076.5(ODAD2):c.531A>G (p.Gln177=)
|
|
|
NM_018076.5(ODAD2):c.534G>A (p.Leu178=)
|
rs550542420
|
|
NM_018076.5(ODAD2):c.534G>T (p.Leu178Phe)
|
rs550542420
|
|
NM_018076.5(ODAD2):c.565C>T (p.His189Tyr)
|
|
|
NM_018076.5(ODAD2):c.568A>G (p.Ile190Val)
|
rs1341314914
|
|
NM_018076.5(ODAD2):c.56G>T (p.Gly19Val)
|
|
|
NM_018076.5(ODAD2):c.618A>G (p.Glu206=)
|
|
|
NM_018076.5(ODAD2):c.635C>T (p.Ser212Leu)
|
|
|
NM_018076.5(ODAD2):c.650A>C (p.Gln217Pro)
|
|
|
NM_018076.5(ODAD2):c.661G>A (p.Glu221Lys)
|
|
|
NM_018076.5(ODAD2):c.689A>T (p.Glu230Val)
|
rs2494380932
|
|
NM_018076.5(ODAD2):c.699T>C (p.Asn233=)
|
rs2494380696
|
|
NM_018076.5(ODAD2):c.707G>A (p.Arg236Gln)
|
|
|
NM_018076.5(ODAD2):c.784A>T (p.Ile262Phe)
|
|
|
NM_018076.5(ODAD2):c.815A>G (p.Asn272Ser)
|
|
|
NM_018076.5(ODAD2):c.843C>T (p.Asp281=)
|
rs754506887
|
|
NM_018076.5(ODAD2):c.851A>G (p.Tyr284Cys)
|
|
|
NM_018076.5(ODAD2):c.887C>T (p.Thr296Ile)
|
rs2494332085
|
|
NM_018076.5(ODAD2):c.91T>C (p.Leu31=)
|
|
|
NM_018076.5(ODAD2):c.937G>A (p.Gly313Arg)
|
|
|
NM_018076.5(ODAD2):c.974A>G (p.Asp325Gly)
|
|
|
NM_018139.3(DNAAF2):c.1052C>T (p.Pro351Leu)
|
rs1264391562
|
|
NM_018139.3(DNAAF2):c.1054G>A (p.Ala352Thr)
|
rs1488474050
|
|
NM_018139.3(DNAAF2):c.1054G>C (p.Ala352Pro)
|
|
|
NM_018139.3(DNAAF2):c.1056C>T (p.Ala352=)
|
rs1883256328
|
|
NM_018139.3(DNAAF2):c.1063C>G (p.Arg355Gly)
|
rs1360393081
|
|
NM_018139.3(DNAAF2):c.1076TCGCCG[3] (p.359VA[3])
|
rs962923283
|
|
NM_018139.3(DNAAF2):c.1159G>T (p.Glu387Ter)
|
rs1439733262
|
|
NM_018139.3(DNAAF2):c.1166G>A (p.Gly389Glu)
|
rs1261094239
|
|
NM_018139.3(DNAAF2):c.1191C>G (p.Asp397Glu)
|
rs1404363594
|
|
NM_018139.3(DNAAF2):c.1201G>A (p.Asp401Asn)
|
rs1309376977
|
|
NM_018139.3(DNAAF2):c.1209C>G (p.Cys403Trp)
|
|
|
NM_018139.3(DNAAF2):c.1243C>G (p.Leu415Val)
|
rs2502768048
|
|
NM_018139.3(DNAAF2):c.124G>A (p.Glu42Lys)
|
rs762189769
|
|
NM_018139.3(DNAAF2):c.127C>T (p.Leu43Phe)
|
rs2502772846
|
|
NM_018139.3(DNAAF2):c.128T>C (p.Leu43Pro)
|
|
|
NM_018139.3(DNAAF2):c.1291C>G (p.Arg431Gly)
|
|
|
NM_018139.3(DNAAF2):c.1320G>C (p.Leu440Phe)
|
|
|
NM_018139.3(DNAAF2):c.1323C>G (p.Ser441Arg)
|
|
|
NM_018139.3(DNAAF2):c.1331C>T (p.Ala444Val)
|
rs1247086952
|
|
NM_018139.3(DNAAF2):c.1345G>T (p.Gly449Cys)
|
|
|
NM_018139.3(DNAAF2):c.1361C>G (p.Pro454Arg)
|
|
|
NM_018139.3(DNAAF2):c.1385C>G (p.Pro462Arg)
|
rs757527838
|
|
NM_018139.3(DNAAF2):c.1438T>C (p.Ser480Pro)
|
|
|
NM_018139.3(DNAAF2):c.1439C>T (p.Ser480Phe)
|
rs1566511752
|
|
NM_018139.3(DNAAF2):c.1442C>T (p.Ala481Val)
|
rs372054376
|
|
NM_018139.3(DNAAF2):c.1486G>C (p.Glu496Gln)
|
|
|
NM_018139.3(DNAAF2):c.14C>T (p.Ala5Val)
|
rs1393464338
|
|
NM_018139.3(DNAAF2):c.1526C>T (p.Ala509Val)
|
rs950478553
|
|
NM_018139.3(DNAAF2):c.1552G>A (p.Gly518Arg)
|
rs145008882
|
|
NM_018139.3(DNAAF2):c.1585C>T (p.Gln529Ter)
|
rs139416233
|
|
NM_018139.3(DNAAF2):c.1586A>C (p.Gln529Pro)
|
rs777210474
|
|
NM_018139.3(DNAAF2):c.1588G>A (p.Asp530Asn)
|
rs146272677
|
|
NM_018139.3(DNAAF2):c.1596A>C (p.Glu532Asp)
|
|
|
NM_018139.3(DNAAF2):c.1597A>G (p.Thr533Ala)
|
rs547924178
|
|
NM_018139.3(DNAAF2):c.1606C>G (p.Leu536Val)
|
rs1289754130
|
|
NM_018139.3(DNAAF2):c.1614T>C (p.Ile538=)
|
rs2502766579
|
|
NM_018139.3(DNAAF2):c.1685C>T (p.Ser562Phe)
|
|
|
NM_018139.3(DNAAF2):c.1707C>A (p.Ser569=)
|
rs2502766273
|
|
NM_018139.3(DNAAF2):c.1736A>C (p.Lys579Thr)
|
|
|
NM_018139.3(DNAAF2):c.1747A>T (p.Thr583Ser)
|
|
|
NM_018139.3(DNAAF2):c.1772C>T (p.Ser591Leu)
|
rs746751400
|
|
NM_018139.3(DNAAF2):c.1806A>G (p.Pro602=)
|
rs1417411909
|
|
NM_018139.3(DNAAF2):c.1811G>A (p.Ser604Asn)
|
rs2502765912
|
|
NM_018139.3(DNAAF2):c.1813C>T (p.His605Tyr)
|
rs964761675
|
|
NM_018139.3(DNAAF2):c.1853A>C (p.Asp618Ala)
|
|
|
NM_018139.3(DNAAF2):c.186G>A (p.Glu62=)
|
rs2985684
|
|
NM_018139.3(DNAAF2):c.1885G>A (p.Glu629Lys)
|
rs1017925273
|
|
NM_018139.3(DNAAF2):c.1888A>T (p.Asn630Tyr)
|
rs1222698212
|
|
NM_018139.3(DNAAF2):c.1931_1932delinsGT (p.Lys644Ser)
|
rs2139574212
|
|
NM_018139.3(DNAAF2):c.1932A>T (p.Lys644Asn)
|
rs748782316
|
|
NM_018139.3(DNAAF2):c.1939A>T (p.Met647Leu)
|
|
|
NM_018139.3(DNAAF2):c.2035C>A (p.Leu679Ile)
|
|
|
NM_018139.3(DNAAF2):c.2069G>T (p.Ser690Ile)
|
rs2502753069
|
|
NM_018139.3(DNAAF2):c.2108C>A (p.Thr703Asn)
|
rs2502752935
|
|
NM_018139.3(DNAAF2):c.212A>T (p.His71Leu)
|
|
|
NM_018139.3(DNAAF2):c.2156T>C (p.Ile719Thr)
|
|
|
NM_018139.3(DNAAF2):c.2203G>T (p.Val735Phe)
|
|
|
NM_018139.3(DNAAF2):c.2207C>T (p.Ser736Phe)
|
rs2502752583
|
|
NM_018139.3(DNAAF2):c.227A>G (p.His76Arg)
|
rs1883301063
|
|
NM_018139.3(DNAAF2):c.228T>C (p.His76=)
|
rs932908231
|
|
NM_018139.3(DNAAF2):c.2305A>G (p.Asn769Asp)
|
|
|
NM_018139.3(DNAAF2):c.2338G>A (p.Glu780Lys)
|
rs778899267
|
|
NM_018139.3(DNAAF2):c.2404G>A (p.Asp802Asn)
|
rs1235666808
|
|
NM_018139.3(DNAAF2):c.329A>G (p.Asp110Gly)
|
|
|
NM_018139.3(DNAAF2):c.331C>T (p.Arg111Trp)
|
rs761666035
|
|
NM_018139.3(DNAAF2):c.336C>G (p.Gly112=)
|
|
|
NM_018139.3(DNAAF2):c.337G>A (p.Ala113Thr)
|
rs2502771853
|
|
NM_018139.3(DNAAF2):c.340G>T (p.Ala114Ser)
|
rs2139584011
|
|
NM_018139.3(DNAAF2):c.368A>G (p.Tyr123Cys)
|
rs1594609686
|
|
NM_018139.3(DNAAF2):c.378G>A (p.Ala126=)
|
|
|
NM_018139.3(DNAAF2):c.397G>C (p.Gly133Arg)
|
rs1369296094
|
|
NM_018139.3(DNAAF2):c.406A>G (p.Ser136Gly)
|
rs2502771558
|
|
NM_018139.3(DNAAF2):c.411C>A (p.Ser137Arg)
|
rs541232616
|
|
NM_018139.3(DNAAF2):c.418A>C (p.Met140Leu)
|
rs572101185
|
|
NM_018139.3(DNAAF2):c.419T>A (p.Met140Lys)
|
|
|
NM_018139.3(DNAAF2):c.427G>C (p.Asp143His)
|
rs2502771469
|
|
NM_018139.3(DNAAF2):c.443C>G (p.Pro148Arg)
|
|
|
NM_018139.3(DNAAF2):c.461C>G (p.Ala154Gly)
|
|
|
NM_018139.3(DNAAF2):c.479T>C (p.Phe160Ser)
|
rs2502771249
|
|
NM_018139.3(DNAAF2):c.510G>T (p.Glu170Asp)
|
rs2502771120
|
|
NM_018139.3(DNAAF2):c.550A>G (p.Asn184Asp)
|
|
|
NM_018139.3(DNAAF2):c.643G>A (p.Gly215Arg)
|
rs1481039237
|
|
NM_018139.3(DNAAF2):c.646G>C (p.Glu216Gln)
|
rs1008470590
|
|
NM_018139.3(DNAAF2):c.662T>G (p.Leu221Arg)
|
|
|
NM_018139.3(DNAAF2):c.665C>A (p.Pro222Gln)
|
|
|
NM_018139.3(DNAAF2):c.676T>G (p.Tyr226Asp)
|
rs566190340
|
|
NM_018139.3(DNAAF2):c.688T>A (p.Tyr230Asn)
|
|
|
NM_018139.3(DNAAF2):c.698C>T (p.Ala233Val)
|
|
|
NM_018139.3(DNAAF2):c.71C>T (p.Thr24Ile)
|
rs1298518158
|
|
NM_018139.3(DNAAF2):c.740A>C (p.Gln247Pro)
|
rs780046342
|
|
NM_018139.3(DNAAF2):c.751A>C (p.Thr251Pro)
|
rs1594609008
|
|
NM_018139.3(DNAAF2):c.799G>T (p.Asp267Tyr)
|
|
|
NM_018139.3(DNAAF2):c.843T>A (p.His281Gln)
|
rs753291588
|
|
NM_018139.3(DNAAF2):c.851T>A (p.Val284Glu)
|
|
|
NM_018139.3(DNAAF2):c.854T>C (p.Ile285Thr)
|
|
|
NM_018139.3(DNAAF2):c.923G>T (p.Cys308Phe)
|
|
|
NM_018139.3(DNAAF2):c.976G>A (p.Val326Met)
|
|
|
NM_023036.6(DNAI2):c.1007G>A (p.Gly336Glu)
|
rs2509752056
|
|
NM_023036.6(DNAI2):c.1082C>T (p.Pro361Leu)
|
|
|
NM_023036.6(DNAI2):c.1085G>A (p.Gly362Asp)
|
|
|
NM_023036.6(DNAI2):c.1095C>G (p.Gly365=)
|
rs746037775
|
|
NM_023036.6(DNAI2):c.1096C>G (p.Pro366Ala)
|
rs2509752438
|
|
NM_023036.6(DNAI2):c.111G>A (p.Leu37=)
|
rs374070900
|
|
NM_023036.6(DNAI2):c.1122del (p.Phe375fs)
|
rs2053123483
|
|
NM_023036.6(DNAI2):c.1130C>T (p.Pro377Leu)
|
rs199726930
|
|
NM_023036.6(DNAI2):c.1134G>A (p.Lys378=)
|
rs1320504737
|
|
NM_023036.6(DNAI2):c.1168A>G (p.Ile390Val)
|
|
|
NM_023036.6(DNAI2):c.120G>T (p.Gln40His)
|
rs1274866190
|
|
NM_023036.6(DNAI2):c.1212-2A>C
|
rs2509762743
|
|
NM_023036.6(DNAI2):c.1213T>A (p.Tyr405Asn)
|
rs2509762752
|
|
NM_023036.6(DNAI2):c.123C>T (p.Phe41=)
|
rs542439989
|
|
NM_023036.6(DNAI2):c.1255A>T (p.Arg419Trp)
|
rs561780132
|
|
NM_023036.6(DNAI2):c.1287C>G (p.Asp429Glu)
|
|
|
NM_023036.6(DNAI2):c.1287C>T (p.Asp429=)
|
rs372940037
|
|
NM_023036.6(DNAI2):c.12G>T (p.Val4=)
|
rs775567813
|
|
NM_023036.6(DNAI2):c.1306G>A (p.Asp436Asn)
|
rs2509763113
|
|
NM_023036.6(DNAI2):c.1336C>G (p.Leu446Val)
|
|
|
NM_023036.6(DNAI2):c.1357G>A (p.Glu453Lys)
|
|
|
NM_023036.6(DNAI2):c.1368C>A (p.Phe456Leu)
|
rs773370913
|
|
NM_023036.6(DNAI2):c.1445C>T (p.Ser482Leu)
|
|
|
NM_023036.6(DNAI2):c.1497G>A (p.Met499Ile)
|
rs1224398877
|
|
NM_023036.6(DNAI2):c.1588G>A (p.Glu530Lys)
|
|
|
NM_023036.6(DNAI2):c.1600G>A (p.Asp534Asn)
|
rs538543314
|
|
NM_023036.6(DNAI2):c.1628C>A (p.Ala543Glu)
|
|
|
NM_023036.6(DNAI2):c.1644C>A (p.Ala548=)
|
rs9908476
|
|
NM_023036.6(DNAI2):c.1644C>T (p.Ala548=)
|
rs9908476
|
|
NM_023036.6(DNAI2):c.1667T>C (p.Ile556Thr)
|
|
|
NM_023036.6(DNAI2):c.1674A>G (p.Ala558=)
|
rs1377302273
|
|
NM_023036.6(DNAI2):c.1682A>G (p.Lys561Arg)
|
rs2509774873
|
|
NM_023036.6(DNAI2):c.1751T>C (p.Val584Ala)
|
rs2509783002
|
|
NM_023036.6(DNAI2):c.215G>T (p.Arg72Leu)
|
rs200668134
|
|
NM_023036.6(DNAI2):c.225C>A (p.Asn75Lys)
|
|
|
NM_023036.6(DNAI2):c.233A>G (p.Glu78Gly)
|
|
|
NM_023036.6(DNAI2):c.253G>A (p.Val85Met)
|
rs749468635
|
|
NM_023036.6(DNAI2):c.32G>A (p.Arg11His)
|
rs762305426
|
|
NM_023036.6(DNAI2):c.344C>A (p.Ser115Tyr)
|
rs779060081
|
|
NM_023036.6(DNAI2):c.350T>C (p.Met117Thr)
|
|
|
NM_023036.6(DNAI2):c.355C>A (p.His119Asn)
|
|
|
NM_023036.6(DNAI2):c.477G>A (p.Gln159=)
|
rs2051961310
|
|
NM_023036.6(DNAI2):c.523A>C (p.Asn175His)
|
rs2051964339
|
|
NM_023036.6(DNAI2):c.618CAA[1] (p.Asn207del)
|
rs763228543
|
|
NM_023036.6(DNAI2):c.694C>A (p.Leu232Ile)
|
|
|
NM_023036.6(DNAI2):c.704G>T (p.Gly235Val)
|
rs2509710481
|
|
NM_023036.6(DNAI2):c.705C>T (p.Gly235=)
|
rs2052066677
|
|
NM_023036.6(DNAI2):c.776A>C (p.Glu259Ala)
|
rs2509734398
|
|
NM_023036.6(DNAI2):c.835G>A (p.Glu279Lys)
|
|
|
NM_023036.6(DNAI2):c.853A>G (p.Thr285Ala)
|
rs2509734625
|
|
NM_023036.6(DNAI2):c.973T>A (p.Phe325Ile)
|
rs2509738037
|
|
NM_023036.6(DNAI2):c.977A>G (p.Glu326Gly)
|
|
|
NM_152732.5(RSPH9):c.131_144delinsG (p.Val44fs)
|
rs2532698369
|
|
NM_152732.5(RSPH9):c.135C>T (p.Leu45=)
|
rs765016716
|
|
NM_152732.5(RSPH9):c.159C>G (p.Leu53=)
|
rs145929923
|
|
NM_152732.5(RSPH9):c.239C>T (p.Thr80Ile)
|
rs1235868570
|
|
NM_152732.5(RSPH9):c.384A>T (p.Glu128Asp)
|
rs1677188254
|
|
NM_152732.5(RSPH9):c.386A>G (p.Glu129Gly)
|
rs751900140
|
|
NM_152732.5(RSPH9):c.447G>T (p.Lys149Asn)
|
rs762167888
|
|
NM_152732.5(RSPH9):c.458T>C (p.Ile153Thr)
|
rs756161521
|
|
NM_152732.5(RSPH9):c.464C>T (p.Pro155Leu)
|
rs2532769972
|
|
NM_152732.5(RSPH9):c.511C>T (p.Arg171Trp)
|
|
|
NM_152732.5(RSPH9):c.577C>T (p.Pro193Ser)
|
rs373236553
|
|
NM_152732.5(RSPH9):c.605T>G (p.Leu202Arg)
|
rs763847806
|
|
NM_152732.5(RSPH9):c.668A>G (p.Lys223Arg)
|
rs772608546
|
|
NM_152732.5(RSPH9):c.678G>T (p.Trp226Cys)
|
|
|
NM_152732.5(RSPH9):c.693G>A (p.Glu231=)
|
rs2532864194
|
|
NM_152732.5(RSPH9):c.717G>T (p.Leu239=)
|
rs2532864529
|
|
NM_152732.5(RSPH9):c.745_746delinsAC (p.Phe249Thr)
|
rs2532864838
|
|
NM_152732.5(RSPH9):c.761G>C (p.Arg254Pro)
|
rs768034790
|
|
NM_152732.5(RSPH9):c.762C>T (p.Arg254=)
|
|
|
NM_152732.5(RSPH9):c.76G>C (p.Ala26Pro)
|
|
|
NM_152732.5(RSPH9):c.805A>G (p.Asn269Asp)
|
rs2532865425
|
|
NM_152732.5(RSPH9):c.830A>G (p.Ter277Trp)
|
|
|
NM_152732.5(RSPH9):c.95T>C (p.Leu32Pro)
|
rs1182940646
|
|
NM_178452.6(DNAAF1):c.1059G>C (p.Glu353Asp)
|
|
|
NM_178452.6(DNAAF1):c.1078G>A (p.Glu360Lys)
|
rs781004949
|
|
NM_178452.6(DNAAF1):c.1082G>T (p.Gly361Val)
|
|
|
NM_178452.6(DNAAF1):c.1093C>G (p.Pro365Ala)
|
rs1177842882
|
|
NM_178452.6(DNAAF1):c.1096C>T (p.Pro366Ser)
|
|
|
NM_178452.6(DNAAF1):c.1098C>G (p.Pro366=)
|
rs1014231886
|
|
NM_178452.6(DNAAF1):c.1103A>C (p.Asp368Ala)
|
rs2507466760
|
|
NM_178452.6(DNAAF1):c.1150G>A (p.Glu384Lys)
|
|
|
NM_178452.6(DNAAF1):c.1153G>T (p.Ala385Ser)
|
rs2088236952
|
|
NM_178452.6(DNAAF1):c.1161C>T (p.Asp387=)
|
rs36062234
|
|
NM_178452.6(DNAAF1):c.120G>C (p.Lys40Asn)
|
rs766876325
|
|
NM_178452.6(DNAAF1):c.1243A>G (p.Thr415Ala)
|
|
|
NM_178452.6(DNAAF1):c.1243A>T (p.Thr415Ser)
|
rs764480347
|
|
NM_178452.6(DNAAF1):c.1300_1322del (p.Gly434fs)
|
rs745495583
|
|
NM_178452.6(DNAAF1):c.1311G>C (p.Glu437Asp)
|
rs2507470388
|
|
NM_178452.6(DNAAF1):c.1343C>G (p.Pro448Arg)
|
|
|
NM_178452.6(DNAAF1):c.1356T>A (p.Pro452=)
|
rs769439341
|
|
NM_178452.6(DNAAF1):c.1377T>C (p.Asp459=)
|
rs761136963
|
|
NM_178452.6(DNAAF1):c.1416C>T (p.Thr472=)
|
|
|
NM_178452.6(DNAAF1):c.1435G>A (p.Val479Met)
|
rs1050884933
|
|
NM_178452.6(DNAAF1):c.143A>G (p.Glu48Gly)
|
rs2507335055
|
|
NM_178452.6(DNAAF1):c.148T>C (p.Cys50Arg)
|
rs1268513300
|
|
NM_178452.6(DNAAF1):c.148T>G (p.Cys50Gly)
|
rs1268513300
|
|
NM_178452.6(DNAAF1):c.1507C>A (p.Pro503Thr)
|
rs1295741623
|
|
NM_178452.6(DNAAF1):c.1529-17TTG[2]
|
rs369485504
|
|
NM_178452.6(DNAAF1):c.1529A>G (p.Glu510Gly)
|
|
|
NM_178452.6(DNAAF1):c.1537C>T (p.Pro513Ser)
|
rs561606647
|
|
NM_178452.6(DNAAF1):c.1576C>A (p.Leu526Ile)
|
|
|
NM_178452.6(DNAAF1):c.1590A>T (p.Arg530Ser)
|
rs774502745
|
|
NM_178452.6(DNAAF1):c.1609A>T (p.Ile537Phe)
|
|
|
NM_178452.6(DNAAF1):c.1610T>C (p.Ile537Thr)
|
|
|
NM_178452.6(DNAAF1):c.1691A>T (p.Glu564Val)
|
rs2151278226
|
|
NM_178452.6(DNAAF1):c.1693G>C (p.Asp565His)
|
rs768743954
|
|
NM_178452.6(DNAAF1):c.1696C>G (p.Gln566Glu)
|
|
|
NM_178452.6(DNAAF1):c.1703T>C (p.Met568Thr)
|
rs1464649987
|
|
NM_178452.6(DNAAF1):c.1712C>A (p.Pro571Gln)
|
rs199727292
|
|
NM_178452.6(DNAAF1):c.1712C>T (p.Pro571Leu)
|
rs199727292
|
|
NM_178452.6(DNAAF1):c.1752C>A (p.Asp584Glu)
|
|
|
NM_178452.6(DNAAF1):c.1780G>A (p.Val594Met)
|
rs2088633060
|
|
NM_178452.6(DNAAF1):c.17C>T (p.Ser6Leu)
|
|
|
NM_178452.6(DNAAF1):c.1807C>T (p.Leu603=)
|
rs774702739
|
|
NM_178452.6(DNAAF1):c.181C>G (p.Gln61Glu)
|
rs886052366
|
|
NM_178452.6(DNAAF1):c.1823C>T (p.Ala608Val)
|
rs1490108952
|
|
NM_178452.6(DNAAF1):c.182A>C (p.Gln61Pro)
|
|
|
NM_178452.6(DNAAF1):c.1883A>C (p.Glu628Ala)
|
|
|
NM_178452.6(DNAAF1):c.1892G>C (p.Arg631Thr)
|
rs149357464
|
|
NM_178452.6(DNAAF1):c.1897T>C (p.Leu633=)
|
rs2507529274
|
|
NM_178452.6(DNAAF1):c.1903A>G (p.Ile635Val)
|
|
|
NM_178452.6(DNAAF1):c.190C>T (p.Gln64Ter)
|
rs1060502829
|
|
NM_178452.6(DNAAF1):c.194G>A (p.Ser65Asn)
|
rs2507335760
|
|
NM_178452.6(DNAAF1):c.1979T>G (p.Leu660Arg)
|
rs2507530517
|
|
NM_178452.6(DNAAF1):c.1990A>G (p.Thr664Ala)
|
rs199680570
|
|
NM_178452.6(DNAAF1):c.1998A>G (p.Gln666=)
|
|
|
NM_178452.6(DNAAF1):c.2039G>A (p.Ser680Asn)
|
rs2507531340
|
|
NM_178452.6(DNAAF1):c.2076G>C (p.Glu692Asp)
|
|
|
NM_178452.6(DNAAF1):c.2118G>C (p.Gln706His)
|
rs2507553276
|
|
NM_178452.6(DNAAF1):c.2124C>A (p.Ser708Arg)
|
|
|
NM_178452.6(DNAAF1):c.2143G>A (p.Asp715Asn)
|
rs1334534849
|
|
NM_178452.6(DNAAF1):c.2146C>A (p.Leu716Ile)
|
|
|
NM_178452.6(DNAAF1):c.2157C>G (p.Phe719Leu)
|
|
|
NM_178452.6(DNAAF1):c.2165C>T (p.Pro722Leu)
|
rs775816960
|
|
NM_178452.6(DNAAF1):c.223G>A (p.Ala75Thr)
|
rs200440212
|
|
NM_178452.6(DNAAF1):c.238G>A (p.Asp80Asn)
|
|
|
NM_178452.6(DNAAF1):c.29C>T (p.Thr10Ile)
|
rs753941664
|
|
NM_178452.6(DNAAF1):c.312T>G (p.Ile104Met)
|
rs372390124
|
|
NM_178452.6(DNAAF1):c.316C>G (p.Pro106Ala)
|
rs34794654
|
|
NM_178452.6(DNAAF1):c.327T>C (p.Asn109=)
|
rs149063283
|
|
NM_178452.6(DNAAF1):c.331dup (p.Thr111fs)
|
rs767808030
|
|
NM_178452.6(DNAAF1):c.332C>A (p.Thr111Lys)
|
rs375812500
|
|
NM_178452.6(DNAAF1):c.361C>A (p.Arg121Ser)
|
rs368031148
|
|
NM_178452.6(DNAAF1):c.362G>A (p.Arg121His)
|
rs34897947
|
|
NM_178452.6(DNAAF1):c.385A>G (p.Thr129Ala)
|
|
|
NM_178452.6(DNAAF1):c.394C>T (p.Arg132Cys)
|
rs538582505
|
|
NM_178452.6(DNAAF1):c.49G>T (p.Asp17Tyr)
|
|
|
NM_178452.6(DNAAF1):c.4C>A (p.His2Asn)
|
rs1367546093
|
|
NM_178452.6(DNAAF1):c.511C>A (p.Pro171Thr)
|
rs754730362
|
|
NM_178452.6(DNAAF1):c.584C>G (p.Pro195Arg)
|
rs1308392116
|
|
NM_178452.6(DNAAF1):c.59A>G (p.Gln20Arg)
|
|
|
NM_178452.6(DNAAF1):c.614A>G (p.Asn205Ser)
|
|
|
NM_178452.6(DNAAF1):c.640C>G (p.Gln214Glu)
|
|
|
NM_178452.6(DNAAF1):c.663G>A (p.Arg221=)
|
rs984903810
|
|
NM_178452.6(DNAAF1):c.68G>A (p.Gly23Asp)
|
rs2086855827
|
|
NM_178452.6(DNAAF1):c.730A>G (p.Met244Val)
|
rs2507375642
|
|
NM_178452.6(DNAAF1):c.742C>A (p.Arg248Ser)
|
rs146766692
|
|
NM_178452.6(DNAAF1):c.742_743delinsAA (p.Arg248Asn)
|
rs2151234537
|
|
NM_178452.6(DNAAF1):c.761G>C (p.Gly254Ala)
|
rs2507397458
|
|
NM_178452.6(DNAAF1):c.766C>G (p.Pro256Ala)
|
rs377443247
|
|
NM_178452.6(DNAAF1):c.76G>C (p.Glu26Gln)
|
|
|
NM_178452.6(DNAAF1):c.7C>T (p.Pro3Ser)
|
rs868661486
|
|
NM_178452.6(DNAAF1):c.872C>T (p.Ala291Val)
|
rs745857720
|
|
NM_178452.6(DNAAF1):c.935G>C (p.Arg312Thr)
|
rs2087949170
|
|
NM_178452.6(DNAAF1):c.948G>T (p.Lys316Asn)
|
|
|
NM_178452.6(DNAAF1):c.94G>A (p.Gly32Arg)
|
|
|
NM_178452.6(DNAAF1):c.979A>T (p.Ile327Phe)
|
|
|
NM_181426.2(CCDC39):c.1028C>T (p.Thr343Ile)
|
rs957354905
|
|
NM_181426.2(CCDC39):c.1072A>G (p.Thr358Ala)
|
|
|
NM_181426.2(CCDC39):c.1238C>G (p.Thr413Arg)
|
rs1718120697
|
|
NM_181426.2(CCDC39):c.1368T>G (p.Phe456Leu)
|
|
|
NM_181426.2(CCDC39):c.136C>T (p.Arg46Cys)
|
|
|
NM_181426.2(CCDC39):c.1451T>C (p.Ile484Thr)
|
|
|
NM_181426.2(CCDC39):c.1613T>G (p.Leu538Arg)
|
rs2473806241
|
|
NM_181426.2(CCDC39):c.1621G>C (p.Asp541His)
|
|
|
NM_181426.2(CCDC39):c.1625_1632del (p.Arg542fs)
|
rs2473806213
|
|
NM_181426.2(CCDC39):c.1627T>A (p.Ser543Thr)
|
rs1303890465
|
|
NM_181426.2(CCDC39):c.1706A>G (p.Lys569Arg)
|
rs961031844
|
|
NM_181426.2(CCDC39):c.1783G>A (p.Ala595Thr)
|
|
|
NM_181426.2(CCDC39):c.1795C>G (p.Arg599Gly)
|
|
|
NM_181426.2(CCDC39):c.1807A>C (p.Ile603Leu)
|
|
|
NM_181426.2(CCDC39):c.1819A>G (p.Lys607Glu)
|
|
|
NM_181426.2(CCDC39):c.1871_1872del (p.Ile624fs)
|
rs1560086701
|
|
NM_181426.2(CCDC39):c.1874+2T>C
|
rs1717963637
|
|
NM_181426.2(CCDC39):c.1891C>T (p.Arg631Trp)
|
|
|
NM_181426.2(CCDC39):c.1892G>A (p.Arg631Gln)
|
|
|
NM_181426.2(CCDC39):c.1898_1901del (p.Ser633fs)
|
rs776301372
|
|
NM_181426.2(CCDC39):c.2040_2043del (p.Cys680fs)
|
rs1174553107
|
|
NM_181426.2(CCDC39):c.2131C>A (p.Gln711Lys)
|
rs1717384352
|
|
NM_181426.2(CCDC39):c.2159G>A (p.Ser720Asn)
|
rs1379346337
|
|
NM_181426.2(CCDC39):c.2159G>T (p.Ser720Ile)
|
|
|
NM_181426.2(CCDC39):c.216_217del (p.Cys73fs)
|
rs1489439743
|
|
NM_181426.2(CCDC39):c.2183A>G (p.Gln728Arg)
|
|
|
NM_181426.2(CCDC39):c.2190del (p.Glu731fs)
|
rs587778820
|
|
NM_181426.2(CCDC39):c.2312T>G (p.Val771Gly)
|
|
|
NM_181426.2(CCDC39):c.2338G>A (p.Ala780Thr)
|
rs1263283205
|
|
NM_181426.2(CCDC39):c.2342A>T (p.Tyr781Phe)
|
|
|
NM_181426.2(CCDC39):c.2345C>T (p.Ser782Leu)
|
|
|
NM_181426.2(CCDC39):c.2358_2362del (p.Ser786fs)
|
rs771057685
|
|
NM_181426.2(CCDC39):c.2414A>C (p.Lys805Thr)
|
rs746421549
|
|
NM_181426.2(CCDC39):c.2420C>T (p.Thr807Ile)
|
|
|
NM_181426.2(CCDC39):c.2446A>C (p.Thr816Pro)
|
|
|
NM_181426.2(CCDC39):c.2453A>T (p.Asp818Val)
|
rs1351057741
|
|
NM_181426.2(CCDC39):c.2469A>G (p.Glu823=)
|
rs2473777397
|
|
NM_181426.2(CCDC39):c.246T>C (p.Ser82=)
|
rs2473826297
|
|
NM_181426.2(CCDC39):c.2485C>G (p.Arg829Gly)
|
|
|
NM_181426.2(CCDC39):c.2527G>C (p.Val843Leu)
|
rs2473777254
|
|
NM_181426.2(CCDC39):c.2564T>G (p.Ile855Ser)
|
|
|
NM_181426.2(CCDC39):c.2651A>G (p.His884Arg)
|
|
|
NM_181426.2(CCDC39):c.2651A>T (p.His884Leu)
|
|
|
NM_181426.2(CCDC39):c.2724G>A (p.Glu908=)
|
|
|
NM_181426.2(CCDC39):c.2744C>G (p.Ser915Cys)
|
rs1324302685
|
|
NM_181426.2(CCDC39):c.2762C>T (p.Pro921Leu)
|
rs745692945
|
|
NM_181426.2(CCDC39):c.277G>T (p.Glu93Ter)
|
rs2473826256
|
|
NM_181426.2(CCDC39):c.297T>C (p.Asp99=)
|
rs763798585
|
|
NM_181426.2(CCDC39):c.297T>G (p.Asp99Glu)
|
rs763798585
|
|
NM_181426.2(CCDC39):c.307C>A (p.Arg103=)
|
rs61733582
|
|
NM_181426.2(CCDC39):c.374C>T (p.Ala125Val)
|
|
|
NM_181426.2(CCDC39):c.377C>T (p.Thr126Ile)
|
|
|
NM_181426.2(CCDC39):c.465T>G (p.Ser155Arg)
|
|
|
NM_181426.2(CCDC39):c.501T>A (p.Asp167Glu)
|
rs183574208
|
|
NM_181426.2(CCDC39):c.547_548del (p.Leu183fs)
|
rs758482424
|
|
NM_181426.2(CCDC39):c.63C>A (p.Asn21Lys)
|
rs775366536
|
|
NM_181426.2(CCDC39):c.640C>G (p.Arg214Gly)
|
rs749794148
|
|
NM_181426.2(CCDC39):c.652A>G (p.Asn218Asp)
|
|
|
NM_181426.2(CCDC39):c.668T>G (p.Leu223Arg)
|
|
|
NM_181426.2(CCDC39):c.779A>G (p.Asn260Ser)
|
rs1711546260
|
|
NM_181426.2(CCDC39):c.782T>G (p.Leu261Trp)
|
rs779435800
|
|
NM_181426.2(CCDC39):c.787A>G (p.Lys263Glu)
|
|
|
NM_181426.2(CCDC39):c.7A>C (p.Ser3Arg)
|
rs757699907
|
|
NM_181426.2(CCDC39):c.827A>G (p.Asn276Ser)
|
|
|
NM_181426.2(CCDC39):c.830_831del (p.Thr277fs)
|
rs773801386
|
|
NM_181426.2(CCDC39):c.853G>A (p.Val285Met)
|
rs886038751
|
|
NM_181426.2(CCDC39):c.853G>T (p.Val285Leu)
|
rs886038751
|
|
NM_181426.2(CCDC39):c.866A>T (p.Lys289Ile)
|
|
|
NM_213607.3(DNAAF19):c.115C>T (p.Gln39Ter)
|
rs1060503433
|
|
NM_213607.3(DNAAF19):c.146G>C (p.Gly49Ala)
|
rs148724732
|
|
NM_213607.3(DNAAF19):c.170A>G (p.Lys57Arg)
|
rs1254933483
|
|
NM_213607.3(DNAAF19):c.17TCA[1] (p.Ile7del)
|
rs2508891342
|
|
NM_213607.3(DNAAF19):c.264T>C (p.Thr88=)
|
rs746143004
|
|
NM_213607.3(DNAAF19):c.289dup (p.Leu97fs)
|
rs1292757961
|
|
NM_213607.3(DNAAF19):c.305C>T (p.Ser102Phe)
|
rs1220315388
|
|
NM_213607.3(DNAAF19):c.332G>A (p.Arg111Gln)
|
rs367570529
|
|
NM_213607.3(DNAAF19):c.336C>T (p.His112=)
|
rs770417283
|
|
NM_213607.3(DNAAF19):c.512C>T (p.Ala171Val)
|
rs756958260
|
|
NM_213607.3(DNAAF19):c.523C>T (p.Arg175Cys)
|
rs745767863
|
|
NM_213607.3(DNAAF19):c.52G>A (p.Ala18Thr)
|
rs1326134394
|
|
NM_213607.3(DNAAF19):c.548T>A (p.Leu183Gln)
|
rs2508901259
|
|
NM_213607.3(DNAAF19):c.649G>T (p.Gly217Cys)
|
rs753349530
|
|
NM_213607.3(DNAAF19):c.66T>A (p.Ala22=)
|
rs138770639
|
|