|
NM_000363.5(TNNI3):c.373-10=
|
rs7252610
|
0.99999
|
|
NM_145038.5(DRC1):c.1195T>C (p.Trp399Arg)
|
rs939820
|
0.99790
|
|
NM_145038.5(DRC1):c.1824= (p.Glu608=)
|
rs1402962
|
0.99477
|
|
NM_001277115.2(DNAH11):c.1956C>T (p.Phe652=)
|
rs6963535
|
0.99232
|
|
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_017802.4(DNAAF5):c.1257+13A>G
|
rs34761279
|
0.83091
|
|
NM_001277115.2(DNAH11):c.3112A>G (p.Thr1038Ala)
|
rs10224537
|
0.79851
|
|
NM_001277115.2(DNAH11):c.3630G>A (p.Gln1210=)
|
rs3827657
|
0.78845
|
|
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_001277115.2(DNAH11):c.11298T>C (p.His3766=)
|
rs4722067
|
0.72158
|
|
NM_000152.5(GAA):c.324T>C (p.Cys108=)
|
rs1800300
|
0.71989
|
|
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_018139.3(DNAAF2):c.*328A>T
|
rs12160
|
0.69631
|
|
NM_001277115.2(DNAH11):c.12493A>G (p.Met4165Val)
|
rs6461613
|
0.69318
|
|
NM_001010892.3(RSPH4A):c.1766T>C (p.Leu589Pro)
|
rs784133
|
0.69311
|
|
NM_145038.5(DRC1):c.1397-15A>G
|
rs4072407
|
0.66267
|
|
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_001277115.2(DNAH11):c.7776C>T (p.His2592=)
|
rs1109806
|
0.63800
|
|
NM_001364171.2(ODAD1):c.2019T>C (p.Ser673=)
|
rs7252988
|
0.59744
|
|
NM_001277115.2(DNAH11):c.11691-19A>G
|
rs4995598
|
0.57880
|
|
NM_001277115.2(DNAH11):c.11122G>T (p.Val3708Leu)
|
rs4722064
|
0.56845
|
|
NM_001277115.2(DNAH11):c.7901A>G (p.Asn2634Ser)
|
rs9639393
|
0.53316
|
|
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_001190787.3(MCIDAS):c.831C>T (p.Cys277=)
|
rs6879219
|
0.52860
|
|
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_001277115.2(DNAH11):c.4377+15A>G
|
rs57208694
|
0.50362
|
|
NM_001206927.2(DNAH8):c.10141-4del
|
rs11291395
|
0.50255
|
|
NM_017950.4(CCDC40):c.3417A>G (p.Pro1139=)
|
rs2304854
|
0.49265
|
|
NM_017950.4(CCDC40):c.*149T>C
|
rs2304852
|
0.48973
|
|
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_023036.6(DNAI2):c.1347+7C>T
|
rs2290955
|
0.47093
|
|
NM_001277115.2(DNAH11):c.705C>T (p.Asn235=)
|
rs10950854
|
0.45869
|
|
NM_001277115.2(DNAH11):c.2454A>G (p.Ala818=)
|
rs4615458
|
0.44959
|
|
NM_001277115.2(DNAH11):c.101A>T (p.Glu34Val)
|
rs2285944
|
0.44739
|
|
NM_001277115.2(DNAH11):c.100G>T (p.Glu34Ter)
|
rs2285943
|
0.44658
|
|
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_001206927.2(DNAH8):c.7569G>A (p.Lys2523=)
|
rs9380795
|
0.43274
|
|
NM_001277115.2(DNAH11):c.6469-17A>G
|
rs1023542
|
0.43069
|
|
NM_001277115.2(DNAH11):c.6274-13T>G
|
rs2965401
|
0.42727
|
|
NM_001206927.2(DNAH8):c.7680C>T (p.Val2560=)
|
rs6458080
|
0.42260
|
|
NM_001206927.2(DNAH8):c.5769C>T (p.His1923=)
|
rs2061907
|
0.42221
|
|
NM_001369.3(DNAH5):c.1644+444C>T
|
rs9312852
|
0.42192
|
|
NM_001277115.2(DNAH11):c.7290C>T (p.Phe2430=)
|
rs12536928
|
0.42173
|
|
NM_001206927.2(DNAH8):c.3071G>A (p.Gly1024Glu)
|
rs874808
|
0.41622
|
|
NM_001369.3(DNAH5):c.192+14C>G
|
rs1530497
|
0.41173
|
|
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_001206927.2(DNAH8):c.13119A>G (p.Leu4373=)
|
rs3737094
|
0.39954
|
|
NM_001206927.2(DNAH8):c.13054-17T>C
|
rs3737095
|
0.39925
|
|
NM_001369.3(DNAH5):c.6444+11C>T
|
rs1348691
|
0.39914
|
|
NM_001369.3(DNAH5):c.71G>A (p.Gly24Glu)
|
rs1530496
|
0.39883
|
|
NM_002408.4(MGAT2):c.-234T>C
|
rs7519
|
0.39580
|
|
NM_001369.3(DNAH5):c.4374G>T (p.Arg1458=)
|
rs6554827
|
0.39500
|
|
NM_001277115.2(DNAH11):c.4449T>C (p.Ile1483=)
|
rs56029521
|
0.39493
|
|
NM_001206927.2(DNAH8):c.5467-19G>A
|
rs9369085
|
0.39224
|
|
NM_001369.3(DNAH5):c.12910-11C>T
|
rs30175
|
0.39090
|
|
NM_001364171.2(ODAD1):c.1582-16T>C
|
rs2292113
|
0.38553
|
|
NM_017950.4(CCDC40):c.*186A>C
|
rs2304851
|
0.38175
|
|
NM_001277115.2(DNAH11):c.10399G>A (p.Ala3467Thr)
|
rs2214326
|
0.38066
|
|
NM_178452.6(DNAAF1):c.1178A>G (p.Lys393Arg)
|
rs17856705
|
0.37678
|
|
NM_001369.3(DNAH5):c.7609+19C>T
|
rs35732567
|
0.37414
|
|
NM_001364171.2(ODAD1):c.1404+8A>G
|
rs8111947
|
0.37323
|
|
NM_001369.3(DNAH5):c.5114+11T>C
|
rs6554820
|
0.37240
|
|
NM_001256715.2(DNAAF3):c.1239-8A>G
|
rs28377509
|
0.36480
|
|
NM_000363.5(TNNI3):c.25-8T>A
|
rs3729836
|
0.35431
|
|
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_017950.4(CCDC40):c.*15T>C
|
rs2304853
|
0.35202
|
|
NM_017950.4(CCDC40):c.676+13T>C
|
rs7212525
|
0.34974
|
|
NM_001369.3(DNAH5):c.10473G>A (p.Thr3491=)
|
rs2401809
|
0.34864
|
|
NM_001369.3(DNAH5):c.9721-12A>T
|
rs12655133
|
0.34761
|
|
NM_001277115.2(DNAH11):c.3068T>C (p.Val1023Ala)
|
rs10269582
|
0.34362
|
|
NM_181426.2(CCDC39):c.1359C>T (p.Ser453=)
|
rs6769457
|
0.33560
|
|
NM_023036.6(DNAI2):c.865-5A>G
|
rs8076337
|
0.32904
|
|
NM_080860.4(RSPH1):c.393G>A (p.Ala131=)
|
rs2839536
|
0.32419
|
|
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_001034853.2(RPGR):c.2863T>G (p.Trp955Gly)
|
rs765224300
|
0.29559
|
|
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_178452.6(DNAAF1):c.1698+7G>T
|
rs3826151
|
0.27950
|
|
NM_001277115.2(DNAH11):c.*88A>G
|
rs7971
|
0.27927
|
|
NM_002055.5(GFAP):c.*28C>G
|
rs11558961
|
0.27601
|
|
NM_001256715.2(DNAAF3):c.666T>C (p.Ala222=)
|
rs7260320
|
0.27073
|
|
NM_213607.3(DNAAF19):c.*4G>A
|
rs8079308
|
0.26209
|
|
NC_000017.11:g.44905825A>G
|
rs17027
|
0.26200
|
|
NM_018139.3(DNAAF2):c.*126T>A
|
rs8952
|
0.26193
|
|
NM_023036.6(DNAI2):c.-72_-63del
|
rs5822035
|
0.25810
|
|
NC_000017.11:g.44899705T>G
|
rs2277617
|
0.25672
|
|
NM_016616.5(NME8):c.1479A>T (p.Ile493=)
|
rs41276027
|
0.25198
|
|
NM_001206927.2(DNAH8):c.1516-20T>C
|
rs2448401
|
0.25016
|
|
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_001256715.2(DNAAF3):c.790-14C>T
|
rs7260371
|
0.23966
|
|
NM_001369.3(DNAH5):c.8586G>T (p.Leu2862Phe)
|
rs10513155
|
0.23716
|
|
NM_001277115.2(DNAH11):c.5621+11A>T
|
rs59447021
|
0.23311
|
|
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_001034853.2(RPGR):c.29-15G>A
|
rs6651585
|
0.21451
|
|
NM_001206927.2(DNAH8):c.4300T>C (p.Leu1434=)
|
rs1678729
|
0.21172
|
|
NM_001206927.2(DNAH8):c.8154C>T (p.Tyr2718=)
|
rs4714192
|
0.20785
|
|
NM_001277115.2(DNAH11):c.7335G>A (p.Ser2445=)
|
rs11768670
|
0.20699
|
|
NM_001369.3(DNAH5):c.7388A>G (p.Gln2463Arg)
|
rs10078391
|
0.20605
|
|
NM_001277115.2(DNAH11):c.*567A>G
|
rs12700325
|
0.20201
|
|
NM_012144.4(DNAI1):c.1003G>A (p.Val335Ile)
|
rs11793196
|
0.20136
|
|
NM_000328.3(RPGR):c.2241+11T>C
|
rs4084271
|
0.20121
|
|
NM_017950.4(CCDC40):c.677-4C>G
|
rs2289530
|
0.19337
|
|
NM_017950.4(CCDC40):c.1159+12C>T
|
rs2289533
|
0.19106
|
|
NM_001364171.2(ODAD1):c.1404+20C>A
|
rs8111297
|
0.19051
|
|
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_000152.5(GAA):c.-260G>C
|
rs2304849
|
0.16933
|
|
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_001277115.2(DNAH11):c.1916A>G (p.Gln639Arg)
|
rs12670130
|
0.14853
|
|
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_001206927.2(DNAH8):c.13462A>G (p.Ile4488Val)
|
rs10484847
|
0.14280
|
|
NM_017802.4(DNAAF5):c.1269C>T (p.Ser423=)
|
rs73036225
|
0.14212
|
|
NM_001206927.2(DNAH8):c.3034+19G>A
|
rs56247993
|
0.14115
|
|
NM_145038.5(DRC1):c.1069A>G (p.Lys357Glu)
|
rs3795958
|
0.14109
|
|
NM_001206927.2(DNAH8):c.12451+13A>G
|
rs10947765
|
0.14089
|
|
NM_001206927.2(DNAH8):c.4255G>A (p.Glu1419Lys)
|
rs9357283
|
0.14060
|
|
NC_000017.11:g.44907009G>A
|
rs8067254
|
0.14036
|
|
NM_016616.5(NME8):c.840A>G (p.Arg280=)
|
rs62001868
|
0.13953
|
|
NM_181426.2(CCDC39):c.1528-43A>G
|
rs73051767
|
0.13950
|
|
NM_001277115.2(DNAH11):c.11202+13G>A
|
rs73279830
|
0.13824
|
|
NM_001206927.2(DNAH8):c.3034+9T>C
|
rs12192604
|
0.13716
|
|
NM_001034853.2(RPGR):c.1245+16A>G
|
rs5918522
|
0.13486
|
|
NM_001034853.2(RPGR):c.2341G>A (p.Ala781Thr)
|
rs5917557
|
0.13157
|
|
NM_080860.4(RSPH1):c.742G>A (p.Gly248Arg)
|
rs117385282
|
0.13113
|
|
NM_001206927.2(DNAH8):c.2368A>G (p.Ile790Val)
|
rs3823430
|
0.13052
|
|
NM_001206927.2(DNAH8):c.12968C>T (p.Thr4323Met)
|
rs1537232
|
0.12781
|
|
NM_023036.6(DNAI2):c.834C>T (p.Thr278=)
|
rs34159194
|
0.12720
|
|
NM_001277115.2(DNAH11):c.1065A>G (p.Pro355=)
|
rs4392792
|
0.12564
|
|
NM_213607.3(DNAAF19):c.276+6T>C
|
rs74349463
|
0.12523
|
|
NC_000017.11:g.44906533A>T
|
rs3744470
|
0.12282
|
|
NM_001206927.2(DNAH8):c.1549T>C (p.Tyr517His)
|
rs61748600
|
0.12187
|
|
NM_018076.5(ODAD2):c.1238G>A (p.Arg413Gln)
|
rs7920186
|
0.12038
|
|
NM_001034853.2(RPGR):c.3396C>T (p.Asn1132=)
|
rs12687163
|
0.12023
|
|
NM_145038.5(DRC1):c.2105G>T (p.Ser702Ile)
|
rs3172008
|
0.12020
|
|
NM_017950.4(CCDC40):c.2323G>A (p.Val775Met)
|
rs60684213
|
0.11874
|
|
NM_001277115.2(DNAH11):c.7570T>C (p.Leu2524=)
|
rs2072220
|
0.11781
|
|
NM_001277115.2(DNAH11):c.5490G>A (p.Leu1830=)
|
rs55666134
|
0.11695
|
|
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_001277115.2(DNAH11):c.1961C>G (p.Ser654Cys)
|
rs62441683
|
0.11359
|
|
NM_001206927.2(DNAH8):c.5196T>C (p.Pro1732=)
|
rs1678744
|
0.11133
|
|
NC_000017.11:g.44905727G>A
|
rs7049
|
0.10720
|
|
NC_000017.11:g.44906346C>T
|
rs1042329
|
0.10683
|
|
NM_001206927.2(DNAH8):c.13215-15C>T
|
rs12210777
|
0.10623
|
|
NM_001277115.2(DNAH11):c.3256-10C>G
|
rs17745898
|
0.10468
|
|
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_001277115.2(DNAH11):c.54C>T (p.Thr18=)
|
rs2285942
|
0.09968
|
|
NM_001206927.2(DNAH8):c.5541C>T (p.Ala1847=)
|
rs1678746
|
0.09945
|
|
NM_001369.3(DNAH5):c.12658A>G (p.Thr4220Ala)
|
rs2277046
|
0.09802
|
|
NM_001206927.2(DNAH8):c.2068G>A (p.Gly690Arg)
|
rs1738254
|
0.09588
|
|
NM_001034853.2(RPGR):c.1697G>A (p.Gly566Glu)
|
rs1801688
|
0.09526
|
|
NM_001206927.2(DNAH8):c.2292T>C (p.Gly764=)
|
rs1678664
|
0.09451
|
|
NM_001034853.2(RPGR):c.1572+11A>G
|
rs62635008
|
0.09370
|
|
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_001034853.2(RPGR):c.2223G>A (p.Glu741=)
|
rs147619484
|
0.08857
|
|
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_001277115.2(DNAH11):c.11272T>C (p.Ser3758Pro)
|
rs17145720
|
0.08574
|
|
NM_145038.5(DRC1):c.1897G>T (p.Val633Phe)
|
rs12623642
|
0.08537
|
|
NM_001010892.3(RSPH4A):c.446C>G (p.Thr149Ser)
|
rs13213314
|
0.08023
|
|
NM_001034853.2(RPGR):c.3430G>A (p.Val1144Ile)
|
rs12688514
|
0.07772
|
|
NM_178452.6(DNAAF1):c.1296G>C (p.Glu432Asp)
|
rs9972733
|
0.07717
|
|
NM_000363.5(TNNI3):c.-35C>A
|
rs3729707
|
0.07367
|
|
NM_000363.5(TNNI3):c.150+13G>A
|
rs73617692
|
0.07353
|
|
NM_018076.5(ODAD2):c.1028T>C (p.Ile343Thr)
|
rs4405206
|
0.07261
|
|
NM_001206927.2(DNAH8):c.12008-20T>C
|
rs79465174
|
0.07141
|
|
NM_001206927.2(DNAH8):c.7982C>A (p.Thr2661Asn)
|
rs862432
|
0.07013
|
|
NM_001277115.2(DNAH11):c.2835A>G (p.Gln945=)
|
rs17144747
|
0.06943
|
|
NM_001256715.2(DNAAF3):c.1164-14C>T
|
rs60176657
|
0.06813
|
|
NM_001256715.2(DNAAF3):c.510A>G (p.Val170=)
|
rs56726774
|
0.06586
|
|
NM_001034853.2(RPGR):c.3264G>A (p.Val1088=)
|
rs78736275
|
0.06433
|
|
NM_001034853.2(RPGR):c.3219C>T (p.Gly1073=)
|
rs111787313
|
0.06277
|
|
NM_001206927.2(DNAH8):c.9369A>G (p.Arg3123=)
|
rs4452640
|
0.06254
|
|
NM_001256715.2(DNAAF3):c.327A>G (p.Arg109=)
|
rs3848618
|
0.06221
|
|
NM_021147.5(CCNO):c.382-14C>G
|
rs72749883
|
0.06145
|
|
NM_001277115.2(DNAH11):c.13502A>G (p.Lys4501Arg)
|
rs77448980
|
0.06118
|
|
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_001206927.2(DNAH8):c.2830G>A (p.Ala944Thr)
|
rs1678674
|
0.05992
|
|
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_017950.4(CCDC40):c.93+18C>A
|
rs8074956
|
0.05859
|
|
NM_001256715.2(DNAAF3):c.529G>A (p.Gly177Ser)
|
rs58824375
|
0.05620
|
|
NM_001277115.2(DNAH11):c.8155-19C>T
|
rs729657
|
0.05613
|
|
NM_017950.3(CCDC40):c.-36C>T
|
rs73437681
|
0.05525
|
|
NM_001277115.2(DNAH11):c.4904A>G (p.Asp1635Gly)
|
rs17144835
|
0.05345
|
|
NM_017950.4(CCDC40):c.507G>A (p.Ser169=)
|
rs2885349
|
0.05290
|
|
NM_001277115.2(DNAH11):c.11325G>A (p.Ala3775=)
|
rs12666072
|
0.05248
|
|
NM_178452.6(DNAAF1):c.-83dup
|
rs149813685
|
0.04983
|
|
NM_178452.6(DNAAF1):c.1848G>A (p.Ala616=)
|
rs76108116
|
0.04969
|
|
NM_000363.5(TNNI3):c.537G>A (p.Glu179=)
|
rs3729841
|
0.04860
|
|
NM_023036.6(DNAI2):c.1053G>A (p.Thr351=)
|
rs34392071
|
0.04853
|
|
NM_017950.4(CCDC40):c.553-17G>C
|
rs7223400
|
0.04712
|
|
NM_001364171.2(ODAD1):c.2024C>T (p.Ser675Leu)
|
rs74925056
|
0.04566
|
|
NM_001206927.2(DNAH8):c.863A>G (p.Asn288Ser)
|
rs6935293
|
0.04501
|
|
NM_017950.4(CCDC40):c.1338C>T (p.Leu446=)
|
rs61734950
|
0.04478
|
|
NM_031427.4(DNAL1):c.*7710_*7711dup
|
rs201343251
|
0.04276
|
|
NM_001277115.2(DNAH11):c.1702G>A (p.Ala568Thr)
|
rs72655988
|
0.04164
|
|
NM_145038.5(DRC1):c.2200G>A (p.Val734Met)
|
rs35313480
|
0.04151
|
|
NM_001277115.2(DNAH11):c.1199C>T (p.Thr400Ile)
|
rs72655982
|
0.04096
|
|
NM_001277115.2(DNAH11):c.11691-20_11691-19insC
|
rs55692559
|
0.03961
|
|
NM_001369.3(DNAH5):c.13462C>A (p.Pro4488Thr)
|
rs113425437
|
0.03898
|
|
NM_000363.5(TNNI3):c.204G>T (p.Arg68=)
|
rs3729711
|
0.03880
|
|
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_001277115.2(DNAH11):c.7756T>C (p.Tyr2586His)
|
rs2003417
|
0.03454
|
|
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_001277115.2(DNAH11):c.12508-12T>C
|
rs72658822
|
0.03145
|
|
NM_178452.6(DNAAF1):c.919C>G (p.Gln307Glu)
|
rs111472069
|
0.03033
|
|
NM_080860.4(RSPH1):c.579A>G (p.Arg193=)
|
rs149478284
|
0.02988
|
|
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_001369.3(DNAH5):c.6444+8A>G
|
rs1348690
|
0.02931
|
|
NM_012144.4(DNAI1):c.1460T>G (p.Val487Gly)
|
rs11999454
|
0.02853
|
|
NM_001277115.2(DNAH11):c.12288G>A (p.Arg4096=)
|
rs72658820
|
0.02841
|
|
NM_001277115.2(DNAH11):c.13547C>T (p.Ala4516Val)
|
rs72658840
|
0.02832
|
|
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_001277115.2(DNAH11):c.4377+20G>A
|
rs113270736
|
0.02672
|
|
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_001277115.2(DNAH11):c.7552G>A (p.Val2518Ile)
|
rs68023059
|
0.02543
|
|
NM_001206927.2(DNAH8):c.2620G>A (p.Val874Met)
|
rs45529837
|
0.02534
|
|
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_001369.3(DNAH5):c.8449-12T>C
|
rs111313933
|
0.02453
|
|
NM_000152.5(GAA):c.-338C>G
|
rs144639114
|
0.02435
|
|
NM_001369.3(DNAH5):c.58-13T>C
|
rs115758625
|
0.02407
|
|
NM_001369.3(DNAH5):c.2578-7T>G
|
rs201833201
|
0.02378
|
|
NM_017950.4(CCDC40):c.*654A>C
|
rs2289538
|
0.02339
|
|
NM_001364171.2(ODAD1):c.598-5C>A
|
rs10416590
|
0.02325
|
|
NM_000152.5(GAA):c.-178G>A
|
rs77514632
|
0.02317
|
|
NM_001206927.2(DNAH8):c.1920C>T (p.Asp640=)
|
rs78139815
|
0.02314
|
|
NM_001277115.2(DNAH11):c.12943G>A (p.Ala4315Thr)
|
rs72658825
|
0.02314
|
|
NM_145038.5(DRC1):c.172T>C (p.Tyr58His)
|
rs74936036
|
0.02281
|
|
NM_012472.6(DNAAF11):c.283C>T (p.Leu95=)
|
rs74599901
|
0.02261
|
|
NM_001206927.2(DNAH8):c.11511G>A (p.Arg3837=)
|
rs61748646
|
0.02251
|
|
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_001206927.2(DNAH8):c.1764+2T>C
|
rs77769111
|
0.02157
|
|
NM_001206927.2(DNAH8):c.1617+3T>G
|
rs58784538
|
0.02146
|
|
NM_012144.4(DNAI1):c.378A>G (p.Glu126=)
|
rs3818577
|
0.02063
|
|
NM_001277115.2(DNAH11):c.421G>T (p.Asp141Tyr)
|
rs72655969
|
0.02050
|
|
NM_001034853.2(RPGR):c.3231T>A (p.Asn1077Lys)
|
rs62636730
|
0.02044
|
|
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_012144.4(DNAI1):c.-178G>C
|
rs3802429
|
0.01938
|
|
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_145038.5(DRC1):c.540+12G>A
|
rs79594098
|
0.01853
|
|
NM_001206927.2(DNAH8):c.5572-19C>T
|
rs112343474
|
0.01846
|
|
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_017950.4(CCDC40):c.*265C>T
|
rs74000393
|
0.01774
|
|
NM_145038.5(DRC1):c.1710G>A (p.Ala570=)
|
rs76446726
|
0.01772
|
|
NM_002408.4(MGAT2):c.261G>T (p.Leu87=)
|
rs2228449
|
0.01763
|
|
NM_145038.5(DRC1):c.2147A>C (p.Gln716Pro)
|
rs115095929
|
0.01753
|
|
NM_001277115.2(DNAH11):c.9102+21_9102+22dup
|
rs200306386
|
0.01735
|
|
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_001277115.2(DNAH11):c.*16C>T
|
rs72658841
|
0.01626
|
|
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_145038.5(DRC1):c.2001A>G (p.Thr667=)
|
rs116119084
|
0.01587
|
|
NM_001369.3(DNAH5):c.6989-13T>C
|
rs112344370
|
0.01579
|
|
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_018139.3(DNAAF2):c.1863+16A>G
|
rs60822508
|
0.01500
|
|
NM_001277115.2(DNAH11):c.6835-19A>G
|
rs77931784
|
0.01493
|
|
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_145038.5(DRC1):c.1359C>T (p.Ser453=)
|
rs77226260
|
0.01451
|
|
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_001206927.2(DNAH8):c.11457+18G>A
|
rs75452505
|
0.01374
|
|
NM_001206927.2(DNAH8):c.11361A>G (p.Pro3787=)
|
rs111791517
|
0.01368
|
|
NM_001206927.2(DNAH8):c.11204A>G (p.His3735Arg)
|
rs77540135
|
0.01359
|
|
NM_018139.3(DNAAF2):c.707C>T (p.Pro236Leu)
|
rs74050429
|
0.01349
|
|
NM_001277115.2(DNAH11):c.6683+13C>G
|
rs17145077
|
0.01337
|
|
NM_178452.6(DNAAF1):c.352+17G>C
|
rs142704524
|
0.01333
|
|
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.12387+20T>A
|
rs116529653
|
0.01307
|
|
NM_015896.4(ZMYND10):c.319-6T>C
|
rs114377074
|
0.01290
|
|
NM_001277115.2(DNAH11):c.6547-5C>G
|
rs115200161
|
0.01266
|
|
NM_001277115.2(DNAH11):c.9102+8G>A
|
rs72657374
|
0.01255
|
|
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_001277115.2(DNAH11):c.8317-16C>G
|
rs76300792
|
0.01191
|
|
NM_003611.3(OFD1):c.828+364A>G
|
rs16979176
|
0.01179
|
|
NM_001277115.2(DNAH11):c.11059A>G (p.Lys3687Glu)
|
rs72657402
|
0.01150
|
|
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_001206927.2(DNAH8):c.1407+20A>G
|
rs9470927
|
0.01139
|
|
NM_001206927.2(DNAH8):c.1050C>T (p.Ala350=)
|
rs9470924
|
0.01136
|
|
NM_001364171.2(ODAD1):c.825C>T (p.Pro275=)
|
rs34628933
|
0.01136
|
|
NM_001277115.2(DNAH11):c.8990G>A (p.Arg2997Gln)
|
rs35865357
|
0.01132
|
|
NM_001277115.2(DNAH11):c.3946A>G (p.Met1316Val)
|
rs17144788
|
0.01127
|
|
NM_001206927.2(DNAH8):c.7551T>C (p.Asp2517=)
|
rs78611987
|
0.01111
|
|
NM_000328.3(RPGR):c.2242-8T>C
|
rs112368541
|
0.01109
|
|
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_001206927.2(DNAH8):c.11331T>A (p.Thr3777=)
|
rs75954496
|
0.01063
|
|
NM_012144.4(DNAI1):c.978A>C (p.Gln326His)
|
rs16931555
|
0.01063
|
|
NM_001206927.2(DNAH8):c.5490C>A (p.Asp1830Glu)
|
rs45519938
|
0.01062
|
|
NM_018139.3(DNAAF2):c.144C>A (p.Asn48Lys)
|
rs116185352
|
0.01062
|
|
NM_001206927.2(DNAH8):c.7171G>T (p.Ala2391Ser)
|
rs61758417
|
0.01041
|
|
NM_001034853.2(RPGR):c.2808A>T (p.Glu936Asp)
|
rs187844918
|
0.01026
|
|
NM_001256715.2(DNAAF3):c.323-17T>G
|
rs10407660
|
0.01021
|
|
NM_080860.4(RSPH1):c.120C>T (p.Asn40=)
|
rs116480603
|
0.01020
|
|
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_001206927.2(DNAH8):c.5733+11A>G
|
rs7750162
|
0.00986
|
|
NM_001369.3(DNAH5):c.3598+20T>C
|
rs114961699
|
0.00975
|
|
NM_015896.4(ZMYND10):c.970C>A (p.Pro324Thr)
|
rs75782239
|
0.00971
|
|
NM_001369.3(DNAH5):c.12280-17T>C
|
rs10214399
|
0.00956
|
|
NM_017950.4(CCDC40):c.2784C>T (p.Ile928=)
|
rs118143944
|
0.00955
|
|
NM_001369.3(DNAH5):c.13338+16C>T
|
rs115271897
|
0.00949
|
|
NM_001277115.2(DNAH11):c.10739G>A (p.Arg3580His)
|
rs34879202
|
0.00942
|
|
NM_145038.5(DRC1):c.36G>C (p.Pro12=)
|
rs116549039
|
0.00942
|
|
NM_023036.6(DNAI2):c.590A>T (p.Asp197Val)
|
rs35636875
|
0.00940
|
|
NM_001369.3(DNAH5):c.5484+17T>C
|
rs16902828
|
0.00937
|
|
NM_001206927.2(DNAH8):c.5127C>T (p.Leu1709=)
|
rs61748643
|
0.00931
|
|
NM_001364171.2(ODAD1):c.2027G>A (p.Ser676Asn)
|
rs74351635
|
0.00931
|
|
NM_001369.3(DNAH5):c.6579+20G>A
|
rs115382993
|
0.00928
|
|
NM_001369.3(DNAH5):c.6061+10A>G
|
rs77957856
|
0.00912
|
|
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_001206927.2(DNAH8):c.4303-14A>G
|
rs115404395
|
0.00890
|
|
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_001369.3(DNAH5):c.5272-14G>T
|
rs866255992
|
0.00877
|
|
NM_001277115.2(DNAH11):c.576A>G (p.Ile192Met)
|
rs72655972
|
0.00876
|
|
NM_001010892.3(RSPH4A):c.1798+11G>A
|
rs41290844
|
0.00873
|
|
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_001277115.2(DNAH11):c.6117G>A (p.Ala2039=)
|
rs78763603
|
0.00856
|
|
NM_001277115.2(DNAH11):c.-27C>A
|
rs72655966
|
0.00845
|
|
NM_001034853.2(RPGR):c.2801A>G (p.Glu934Gly)
|
rs751314374
|
0.00844
|
|
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_181426.2(CCDC39):c.2159-16A>C
|
rs147028259
|
0.00812
|
|
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_001034853.2(RPGR):c.2411G>A (p.Arg804Lys)
|
rs147388235
|
0.00798
|
|
NM_018076.5(ODAD2):c.2805C>A (p.Asn935Lys)
|
rs35181927
|
0.00796
|
|
NM_001034853.2(RPGR):c.2057T>A (p.Met686Lys)
|
rs151247357
|
0.00794
|
|
NM_018139.3(DNAAF2):c.1367C>T (p.Pro456Leu)
|
rs137991407
|
0.00785
|
|
NM_001277115.2(DNAH11):c.7812-18C>G
|
rs147865931
|
0.00771
|
|
NM_145038.5(DRC1):c.992C>T (p.Thr331Ile)
|
rs143181834
|
0.00771
|
|
NM_001277115.2(DNAH11):c.5359T>C (p.Leu1787=)
|
rs75932225
|
0.00755
|
|
NM_012144.4(DNAI1):c.1401+17G>A
|
rs138412741
|
0.00752
|
|
NM_001369.3(DNAH5):c.6579+6A>G
|
rs141389162
|
0.00745
|
|
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_021147.5(CCNO):c.790G>C (p.Gly264Arg)
|
rs138440180
|
0.00719
|
|
NM_017950.4(CCDC40):c.2608C>T (p.Arg870Cys)
|
rs61749025
|
0.00718
|
|
NM_080860.4(RSPH1):c.650T>G (p.Leu217Trp)
|
rs138007679
|
0.00716
|
|
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_001364171.2(ODAD1):c.988+11C>A
|
rs112569880
|
0.00708
|
|
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_001206927.2(DNAH8):c.4265G>A (p.Arg1422His)
|
rs145309531
|
0.00681
|
|
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_001206927.2(DNAH8):c.11771C>T (p.Thr3924Met)
|
rs61757218
|
0.00667
|
|
NM_001034853.2(RPGR):c.3407G>A (p.Gly1136Asp)
|
rs150960964
|
0.00656
|
|
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_001034853.2(RPGR):c.778+13T>A
|
rs199625400
|
0.00629
|
|
NM_080860.4(RSPH1):c.450C>T (p.Ala150=)
|
rs117797631
|
0.00628
|
|
NM_001206927.2(DNAH8):c.4449G>A (p.Glu1483=)
|
rs61757623
|
0.00622
|
|
NM_017950.4(CCDC40):c.1303G>A (p.Glu435Lys)
|
rs62000409
|
0.00619
|
|
NM_181426.2(CCDC39):c.2669+6C>T
|
rs57859179
|
0.00616
|
|
NM_003611.3(OFD1):c.828+460A>C
|
rs140641349
|
0.00612
|
|
NM_012144.4(DNAI1):c.179C>T (p.Ala60Val)
|
rs16931549
|
0.00609
|
|
NM_001277115.2(DNAH11):c.1426-9T>C
|
rs72655983
|
0.00607
|
|
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_001206927.2(DNAH8):c.12264C>T (p.Asp4088=)
|
rs61748647
|
0.00588
|
|
NM_017802.4(DNAAF5):c.2240-12C>T
|
rs114742749
|
0.00586
|
|
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_145038.5(DRC1):c.1824G>A (p.Glu608=)
|
rs1402962
|
0.00567
|
|
NM_145038.5(DRC1):c.1067C>T (p.Ala356Val)
|
rs78892546
|
0.00566
|
|
NM_001369.3(DNAH5):c.1858C>A (p.Gln620Lys)
|
rs34076967
|
0.00563
|
|
NM_001277115.2(DNAH11):c.640A>G (p.Ile214Val)
|
rs117064287
|
0.00559
|
|
NM_001369.3(DNAH5):c.5115-4G>T
|
rs141141086
|
0.00551
|
|
NM_001206927.2(DNAH8):c.4084-4G>T
|
rs61748602
|
0.00549
|
|
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_017950.4(CCDC40):c.1441-18C>G
|
rs181295177
|
0.00530
|
|
NM_023036.6(DNAI2):c.1462C>T (p.Leu488Phe)
|
rs61736879
|
0.00529
|
|
NM_001277115.2(DNAH11):c.693-9T>C
|
rs72655973
|
0.00515
|
|
NM_015896.4(ZMYND10):c.1105C>T (p.Arg369Trp)
|
rs142613783
|
0.00514
|
|
NM_015896.4(ZMYND10):c.1073A>G (p.Gln358Arg)
|
rs114329675
|
0.00510
|
|
NM_001206927.2(DNAH8):c.8259+12A>T
|
rs188009638
|
0.00507
|
|
NM_001277115.2(DNAH11):c.858A>G (p.Glu286=)
|
rs185273259
|
0.00504
|
|
NM_001256715.2(DNAAF3):c.323-4del
|
rs201986299
|
0.00503
|
|
NM_001277115.2(DNAH11):c.939C>T (p.Ser313=)
|
rs72655977
|
0.00497
|
|
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_001206927.2(DNAH8):c.12591G>A (p.Thr4197=)
|
rs59067570
|
0.00492
|
|
NM_001206927.2(DNAH8):c.5701C>T (p.Leu1901Phe)
|
rs111580219
|
0.00490
|
|
NM_001277115.2(DNAH11):c.1885C>T (p.Pro629Ser)
|
rs150966144
|
0.00490
|
|
NM_001206927.2(DNAH8):c.8259+6G>A
|
rs112605623
|
0.00487
|
|
NM_001277115.2(DNAH11):c.9642A>G (p.Ala3214=)
|
rs72657384
|
0.00486
|
|
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_080860.4(RSPH1):c.365+13T>C
|
rs181902996
|
0.00482
|
|
NM_001034853.2(RPGR):c.2853G>A (p.Glu951=)
|
rs766376194
|
0.00481
|
|
NM_001277115.2(DNAH11):c.8362C>G (p.His2788Asp)
|
rs147478795
|
0.00481
|
|
NM_017950.4(CCDC40):c.2832+20G>A
|
rs78493584
|
0.00479
|
|
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_023036.6(DNAI2):c.865-18C>T
|
rs117075898
|
0.00470
|
|
NM_178452.6(DNAAF1):c.2109A>G (p.Gly703=)
|
rs35214636
|
0.00469
|
|
NM_001277115.2(DNAH11):c.2275-15G>T
|
rs60290948
|
0.00458
|
|
NM_001206927.2(DNAH8):c.8339T>C (p.Ile2780Thr)
|
rs142328376
|
0.00453
|
|
NM_080860.4(RSPH1):c.733G>A (p.Gly245Arg)
|
rs151158140
|
0.00452
|
|
NM_001277115.2(DNAH11):c.9435G>A (p.Thr3145=)
|
rs72657379
|
0.00449
|
|
NM_178452.5(DNAAF1):c.-172G>A
|
rs558403928
|
0.00448
|
|
NM_001277115.2(DNAH11):c.10027-10T>C
|
rs116368970
|
0.00445
|
|
NM_001277115.2(DNAH11):c.4726-15T>C
|
rs17144822
|
0.00445
|
|
NM_001277115.2(DNAH11):c.6416G>A (p.Arg2139Lys)
|
rs140048925
|
0.00445
|
|
NM_001010892.3(RSPH4A):c.-12_-11insCCA
|
rs576610212
|
0.00443
|
|
NM_001010892.3(RSPH4A):c.-13T>A
|
rs567530388
|
0.00443
|
|
NC_000017.11:g.44906273G>A
|
rs117405516
|
0.00442
|
|
NM_001364171.2(ODAD1):c.1788C>T (p.His596=)
|
rs147072026
|
0.00442
|
|
NM_001206927.2(DNAH8):c.4908G>T (p.Glu1636Asp)
|
rs61757219
|
0.00440
|
|
NM_001369.3(DNAH5):c.5707C>T (p.Leu1903=)
|
rs7719896
|
0.00439
|
|
NM_001277115.2(DNAH11):c.6468+14T>C
|
rs114409690
|
0.00437
|
|
NM_181426.2(CCDC39):c.1875-20G>A
|
rs73051759
|
0.00437
|
|
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_001277115.2(DNAH11):c.9097A>G (p.Ile3033Val)
|
rs72657373
|
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_001277115.2(DNAH11):c.4501-7A>T
|
rs62447794
|
0.00414
|
|
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_001277115.2(DNAH11):c.6041+18T>C
|
rs72657336
|
0.00407
|
|
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.2380G>A (p.Glu794Lys)
|
rs78653098
|
0.00401
|
|
NM_001277115.2(DNAH11):c.5270C>T (p.Ala1757Val)
|
rs115367126
|
0.00399
|
|
NM_001206927.2(DNAH8):c.8338A>G (p.Ile2780Val)
|
rs116401640
|
0.00398
|
|
NM_001256715.2(DNAAF3):c.1248G>A (p.Val416=)
|
rs111250144
|
0.00398
|
|
NM_001277115.2(DNAH11):c.6726A>G (p.Leu2242=)
|
rs78152348
|
0.00393
|
|
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_001277115.2(DNAH11):c.13050-15C>T
|
rs149634292
|
0.00375
|
|
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_001277115.2(DNAH11):c.5924+19A>G
|
rs112923391
|
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_021147.5(CCNO):c.940G>A (p.Glu314Lys)
|
rs114088695
|
0.00355
|
|
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_001206927.2(DNAH8):c.4401G>A (p.Thr1467=)
|
rs45622336
|
0.00347
|
|
NM_003114.5(SPAG1):c.1584G>A (p.Ala528=)
|
rs35252724
|
0.00346
|
|
NM_001277115.2(DNAH11):c.11805G>A (p.Pro3935=)
|
rs187489343
|
0.00345
|
|
NM_145038.5(DRC1):c.1976C>T (p.Ser659Leu)
|
rs79027679
|
0.00340
|
|
NM_178452.6(DNAAF1):c.1820T>C (p.Phe607Ser)
|
rs144628213
|
0.00340
|
|
NM_181426.2(CCDC39):c.930+12C>G
|
rs1401333
|
0.00338
|
|
NM_001369.3(DNAH5):c.5709+18G>T
|
rs111904415
|
0.00337
|
|
NM_017802.4(DNAAF5):c.2472G>A (p.Leu824=)
|
rs114907681
|
0.00336
|
|
NM_015896.4(ZMYND10):c.202-14C>T
|
rs9825506
|
0.00335
|
|
NM_001369.3(DNAH5):c.8757G>C (p.Glu2919Asp)
|
rs115776799
|
0.00334
|
|
NM_021147.5(CCNO):c.780C>T (p.Ala260=)
|
rs139167004
|
0.00334
|
|
NM_001190787.3(MCIDAS):c.120+3G>A
|
rs186341559
|
0.00332
|
|
NM_001190787.3(MCIDAS):c.739C>T (p.Arg247Trp)
|
rs199825346
|
0.00332
|
|
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.4124G>A (p.Arg1375His)
|
rs151018293
|
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_145038.5(DRC1):c.909G>T (p.Gln303His)
|
rs139352961
|
0.00326
|
|
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_001206927.2(DNAH8):c.4383G>A (p.Leu1461=)
|
rs145272110
|
0.00317
|
|
NM_178452.6(DNAAF1):c.1227T>G (p.Gly409=)
|
rs148674729
|
0.00317
|
|
NM_001206927.2(DNAH8):c.12567A>C (p.Glu4189Asp)
|
rs61757618
|
0.00314
|
|
NM_017802.4(DNAAF5):c.1471-13C>T
|
rs140078958
|
0.00314
|
|
NM_181426.2(CCDC39):c.1433A>G (p.Gln478Arg)
|
rs115545935
|
0.00312
|
|
NM_001206927.2(DNAH8):c.724C>T (p.Arg242Cys)
|
rs79455046
|
0.00309
|
|
NM_015896.4(ZMYND10):c.727C>T (p.Arg243Cys)
|
rs141055331
|
0.00309
|
|
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_001277115.2(DNAH11):c.12521T>G (p.Leu4174Arg)
|
rs144474011
|
0.00307
|
|
NM_001277115.2(DNAH11):c.9935A>T (p.Asp3312Val)
|
rs72657389
|
0.00307
|
|
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.*105C>G
|
rs79947346
|
0.00301
|
|
NM_001277115.2(DNAH11):c.3045G>T (p.Glu1015Asp)
|
rs72657303
|
0.00300
|
|
NM_001206927.2(DNAH8):c.9943G>A (p.Ala3315Thr)
|
rs76387239
|
0.00299
|
|
NM_001277115.2(DNAH11):c.13163-19T>A
|
rs72658832
|
0.00299
|
|
NM_001277115.2(DNAH11):c.9468T>C (p.Asp3156=)
|
rs201207627
|
0.00299
|
|
NM_001369.3(DNAH5):c.4796+11C>A
|
rs146696580
|
0.00299
|
|
NM_001206927.2(DNAH8):c.11340A>G (p.Leu3780=)
|
rs113024778
|
0.00298
|
|
NM_003611.3(OFD1):c.1923G>A (p.Glu641=)
|
rs145300245
|
0.00298
|
|
NM_145038.5(DRC1):c.1492C>G (p.Leu498Val)
|
rs143980408
|
0.00297
|
|
NM_017802.4(DNAAF5):c.1689T>C (p.Ile563=)
|
rs151227818
|
0.00296
|
|
NM_017950.4(CCDC40):c.2236-15G>A
|
rs148674510
|
0.00295
|
|
NM_001206927.2(DNAH8):c.1884A>G (p.Gln628=)
|
rs149534667
|
0.00293
|
|
NM_001277115.2(DNAH11):c.10391C>T (p.Thr3464Ile)
|
rs141112088
|
0.00293
|
|
NM_001277115.2(DNAH11):c.8798-5G>A
|
rs189821372
|
0.00292
|
|
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_001277115.2(DNAH11):c.8797+20T>G
|
rs16872911
|
0.00280
|
|
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_001034853.2(RPGR):c.2499T>G (p.Gly833=)
|
rs752979508
|
0.00274
|
|
NM_021147.5(CCNO):c.957G>A (p.Lys319=)
|
rs7712656
|
0.00273
|
|
NM_145038.5(DRC1):c.2070C>T (p.Val690=)
|
rs114106015
|
0.00273
|
|
NM_001256715.2(DNAAF3):c.913-13C>T
|
rs146442289
|
0.00272
|
|
NM_001206927.2(DNAH8):c.2526G>A (p.Gln842=)
|
rs141289823
|
0.00265
|
|
NM_017950.4(CCDC40):c.2785G>A (p.Gly929Ser)
|
rs59896146
|
0.00264
|
|
NM_080860.4(RSPH1):c.730G>A (p.Ala244Thr)
|
rs150400022
|
0.00262
|
|
NM_001206927.2(DNAH8):c.8724G>A (p.Glu2908=)
|
rs149787191
|
0.00261
|
|
NM_001277115.2(DNAH11):c.4430T>C (p.Val1477Ala)
|
rs72657320
|
0.00260
|
|
NM_012144.4(DNAI1):c.2001+19T>A
|
rs144066349
|
0.00260
|
|
NM_001206927.2(DNAH8):c.832A>G (p.Ile278Val)
|
rs147580001
|
0.00259
|
|
NM_001277115.2(DNAH11):c.555A>G (p.Ser185=)
|
rs143304361
|
0.00259
|
|
NM_001206927.2(DNAH8):c.8473+18G>A
|
rs115168718
|
0.00257
|
|
NM_001206927.2(DNAH8):c.11853A>G (p.Thr3951=)
|
rs115871283
|
0.00255
|
|
NM_017802.4(DNAAF5):c.2564A>G (p.Gln855Arg)
|
rs78491700
|
0.00255
|
|
NM_001206927.2(DNAH8):c.14100G>T (p.Val4700=)
|
rs113990988
|
0.00252
|
|
NM_015896.4(ZMYND10):c.1019G>A (p.Arg340Gln)
|
rs148328402
|
0.00251
|
|
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_145038.5(DRC1):c.2166+16_2166+17insA
|
rs546596010
|
0.00247
|
|
NM_018076.5(ODAD2):c.205G>C (p.Glu69Gln)
|
rs61729351
|
0.00246
|
|
NM_001190787.3(MCIDAS):c.828T>C (p.Asp276=)
|
rs188932912
|
0.00245
|
|
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_001206927.2(DNAH8):c.12969G>A (p.Thr4323=)
|
rs114095356
|
0.00241
|
|
NM_001369.3(DNAH5):c.9681A>G (p.Lys3227=)
|
rs138639741
|
0.00241
|
|
NM_001277115.2(DNAH11):c.3001-7C>T
|
rs369466371
|
0.00239
|
|
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_001206927.2(DNAH8):c.9740+11T>C
|
rs183793272
|
0.00235
|
|
NM_001206927.2(DNAH8):c.9987C>T (p.Ser3329=)
|
rs150857304
|
0.00235
|
|
NM_001277115.2(DNAH11):c.3384C>T (p.Ser1128=)
|
rs79955190
|
0.00235
|
|
NM_001277115.2(DNAH11):c.4282A>G (p.Thr1428Ala)
|
rs72657315
|
0.00235
|
|
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.7752+10T>C
|
rs149460805
|
0.00231
|
|
NM_012144.4(DNAI1):c.-170T>A
|
rs55750068
|
0.00229
|
|
NM_178452.6(DNAAF1):c.1718T>C (p.Ile573Thr)
|
rs137862641
|
0.00229
|
|
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_001206927.2(DNAH8):c.10678G>A (p.Ala3560Thr)
|
rs141263020
|
0.00219
|
|
NM_018139.3(DNAAF2):c.1405T>A (p.Cys469Ser)
|
rs202079418
|
0.00212
|
|
NM_001206927.2(DNAH8):c.13214+10T>C
|
rs112998568
|
0.00210
|
|
NM_001190787.3(MCIDAS):c.856G>A (p.Glu286Lys)
|
rs185737637
|
0.00207
|
|
NM_001277115.2(DNAH11):c.12196-12C>G
|
rs111541378
|
0.00206
|
|
NM_001369.3(DNAH5):c.624C>T (p.Asn208=)
|
rs139640247
|
0.00206
|
|
NM_001206927.2(DNAH8):c.13381C>T (p.Arg4461Cys)
|
rs143714496
|
0.00205
|
|
NM_016616.5(NME8):c.388-3T>C
|
rs141307270
|
0.00205
|
|
NM_023036.6(DNAI2):c.1408G>A (p.Gly470Ser)
|
rs115299472
|
0.00205
|
|
NM_001034853.2(RPGR):c.2793G>A (p.Glu931=)
|
rs1446705794
|
0.00203
|
|
NM_017950.4(CCDC40):c.1275C>T (p.Ala425=)
|
rs145013523
|
0.00203
|
|
NM_001277115.2(DNAH11):c.9598-16G>A
|
rs183862333
|
0.00201
|
|
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_001206927.2(DNAH8):c.6966A>T (p.Pro2322=)
|
rs149125241
|
0.00198
|
|
NM_018076.5(ODAD2):c.2342G>T (p.Gly781Val)
|
rs145619075
|
0.00196
|
|
NM_001206927.2(DNAH8):c.5527G>C (p.Asp1843His)
|
rs61758415
|
0.00195
|
|
NM_001010892.3(RSPH4A):c.2101G>C (p.Glu701Gln)
|
rs140660854
|
0.00194
|
|
NM_001206927.2(DNAH8):c.9574A>G (p.Met3192Val)
|
rs140935840
|
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_017950.4(CCDC40):c.*383G>A
|
rs114892048
|
0.00193
|
|
NM_001256715.2(DNAAF3):c.531C>T (p.Gly177=)
|
rs559008223
|
0.00192
|
|
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_001277115.2(DNAH11):c.58C>A (p.Arg20Ser)
|
rs72655967
|
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_080860.4(RSPH1):c.501+7C>T
|
rs201034280
|
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_145038.5(DRC1):c.1692C>T (p.Ile564=)
|
rs150385105
|
0.00177
|
|
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_001206927.2(DNAH8):c.270G>C (p.Pro90=)
|
rs180723141
|
0.00175
|
|
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_001277115.2(DNAH11):c.4001T>C (p.Ile1334Thr)
|
rs72657309
|
0.00171
|
|
NM_001364171.2(ODAD1):c.1481C>T (p.Pro494Leu)
|
rs148823991
|
0.00171
|
|
NM_001206927.2(DNAH8):c.2174C>G (p.Ala725Gly)
|
rs61757621
|
0.00170
|
|
NM_001206927.2(DNAH8):c.9513+15T>G
|
rs147204268
|
0.00170
|
|
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_001206927.2(DNAH8):c.11776T>C (p.Leu3926=)
|
rs148084212
|
0.00168
|
|
NM_001206927.2(DNAH8):c.13823C>T (p.Thr4608Met)
|
rs142438011
|
0.00168
|
|
NM_001277115.2(DNAH11):c.11840-20C>T
|
rs146222137
|
0.00168
|
|
NM_001277115.2(DNAH11):c.12175G>A (p.Ala4059Thr)
|
rs142372794
|
0.00168
|
|
NM_002408.4(MGAT2):c.-351G>T
|
rs116136260
|
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_001364171.2(ODAD1):c.1581+17C>T
|
rs182750626
|
0.00166
|
|
NM_001277115.2(DNAH11):c.8533C>G (p.Arg2845Gly)
|
rs121908854
|
0.00163
|
|
NM_001369.3(DNAH5):c.3363T>G (p.Ser1121=)
|
rs58266192
|
0.00163
|
|
NM_021147.5(CCNO):c.1007C>T (p.Pro336Leu)
|
rs115697956
|
0.00163
|
|
NM_001206927.2(DNAH8):c.8909C>T (p.Ser2970Phe)
|
rs150571615
|
0.00161
|
|
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.1321-15T>C
|
rs202081804
|
0.00160
|
|
NM_178452.6(DNAAF1):c.1644+14T>C
|
rs185394395
|
0.00159
|
|
NM_001369.3(DNAH5):c.1206T>A (p.Asn402Lys)
|
rs140782270
|
0.00158
|
|
NM_001369.3(DNAH5):c.5882+6G>A
|
rs377640010
|
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_017950.4(CCDC40):c.1440+16G>A
|
rs192026179
|
0.00155
|
|
NM_001206927.2(DNAH8):c.11700C>T (p.Pro3900=)
|
rs142515873
|
0.00154
|
|
NM_001206927.2(DNAH8):c.2709G>A (p.Ser903=)
|
rs140047863
|
0.00154
|
|
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_001206927.2(DNAH8):c.10591C>T (p.Leu3531=)
|
rs150730516
|
0.00152
|
|
NM_001256715.2(DNAAF3):c.913-8A>G
|
rs71367156
|
0.00151
|
|
NM_001277115.2(DNAH11):c.10350C>G (p.Thr3450=)
|
rs200603138
|
0.00151
|
|
NM_017950.4(CCDC40):c.856-18G>A
|
rs189118723
|
0.00151
|
|
NM_021147.5(CCNO):c.134C>A (p.Pro45His)
|
rs139606873
|
0.00150
|
|
NM_213607.3(DNAAF19):c.627G>A (p.Glu209=)
|
rs200474997
|
0.00150
|
|
NM_001206927.2(DNAH8):c.11580C>T (p.Asp3860=)
|
rs149356438
|
0.00149
|
|
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_145038.5(DRC1):c.2223A>C (p.Ter741Cys)
|
rs151184011
|
0.00149
|
|
NM_001206927.2(DNAH8):c.11817-7G>A
|
rs139673856
|
0.00148
|
|
NM_001206927.2(DNAH8):c.11895T>C (p.Ser3965=)
|
rs151015092
|
0.00148
|
|
NM_018076.5(ODAD2):c.1207T>A (p.Ser403Thr)
|
rs150723128
|
0.00147
|
|
NM_001206927.2(DNAH8):c.13214C>T (p.Thr4405Met)
|
rs115630842
|
0.00146
|
|
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_001206927.2(DNAH8):c.13372-15T>A
|
rs201333384
|
0.00145
|
|
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_015896.4(ZMYND10):c.873+4A>T
|
rs185474627
|
0.00144
|
|
NM_001206927.2(DNAH8):c.12678+13A>G
|
rs181156919
|
0.00142
|
|
NM_001010892.3(RSPH4A):c.1662+15C>T
|
rs183372450
|
0.00141
|
|
NM_001206927.2(DNAH8):c.5209C>T (p.Arg1737Cys)
|
rs146241522
|
0.00141
|
|
NM_001277115.2(DNAH11):c.6067A>G (p.Ile2023Val)
|
rs72657339
|
0.00140
|
|
NM_001206927.2(DNAH8):c.6856A>G (p.Ser2286Gly)
|
rs113909197
|
0.00139
|
|
NM_001369.3(DNAH5):c.7998G>T (p.Glu2666Asp)
|
rs148720124
|
0.00139
|
|
NM_021147.5(CCNO):c.354G>A (p.Pro118=)
|
rs368155527
|
0.00139
|
|
NM_003114.5(SPAG1):c.2265A>T (p.Lys755Asn)
|
rs148883126
|
0.00138
|
|
NM_001206927.2(DNAH8):c.11379G>A (p.Thr3793=)
|
rs112903128
|
0.00137
|
|
NM_018076.5(ODAD2):c.1654A>C (p.Lys552Gln)
|
rs138205369
|
0.00137
|
|
NM_001206927.2(DNAH8):c.10290A>G (p.Ser3430=)
|
rs140024206
|
0.00136
|
|
NM_001010892.3(RSPH4A):c.1080G>C (p.Leu360Phe)
|
rs111375012
|
0.00135
|
|
NM_001206927.2(DNAH8):c.2915A>T (p.Glu972Val)
|
rs139961713
|
0.00135
|
|
NM_001206927.2(DNAH8):c.7620+16del
|
rs573849239
|
0.00135
|
|
NM_001277115.2(DNAH11):c.8151C>T (p.Phe2717=)
|
rs111301826
|
0.00135
|
|
NM_017802.4(DNAAF5):c.1931+8C>T
|
rs145254596
|
0.00135
|
|
NM_003114.5(SPAG1):c.1307C>T (p.Pro436Leu)
|
rs761617724
|
0.00134
|
|
NM_017802.4(DNAAF5):c.1783+10C>T
|
rs189816059
|
0.00134
|
|
NM_145038.5(DRC1):c.1851C>G (p.Pro617=)
|
rs200824609
|
0.00133
|
|
NM_001206927.2(DNAH8):c.11997T>C (p.Ala3999=)
|
rs148812133
|
0.00132
|
|
NM_001369.3(DNAH5):c.6039A>C (p.Arg2013=)
|
rs112102932
|
0.00132
|
|
NM_080860.4(RSPH1):c.870G>A (p.Met290Ile)
|
rs140450252
|
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_001190787.3(MCIDAS):c.821G>A (p.Gly274Glu)
|
rs181843638
|
0.00127
|
|
NM_001206927.2(DNAH8):c.9643A>T (p.Asn3215Tyr)
|
rs145107574
|
0.00127
|
|
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_001369.3(DNAH5):c.8137C>T (p.Arg2713Cys)
|
rs111912673
|
0.00127
|
|
NM_015896.4(ZMYND10):c.229G>A (p.Ala77Thr)
|
rs146847253
|
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_001206927.2(DNAH8):c.10818G>A (p.Thr3606=)
|
rs79890174
|
0.00126
|
|
NM_080860.4(RSPH1):c.711C>T (p.Asp237=)
|
rs75626002
|
0.00126
|
|
NM_001277115.2(DNAH11):c.10165+7C>T
|
rs76424325
|
0.00124
|
|
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_145038.5(DRC1):c.2021A>T (p.Gln674Leu)
|
rs202097155
|
0.00123
|
|
NM_213607.3(DNAAF19):c.461A>C (p.His154Pro)
|
rs145457535
|
0.00123
|
|
NM_001010892.3(RSPH4A):c.1990C>T (p.Pro664Ser)
|
rs146142715
|
0.00122
|
|
NM_001277115.2(DNAH11):c.6181-12T>C
|
rs201203384
|
0.00122
|
|
NM_001369.3(DNAH5):c.2578-6G>T
|
rs1303708125
|
0.00122
|
|
NM_001369.3(DNAH5):c.7753-9C>G
|
rs377367981
|
0.00122
|
|
NM_001206927.2(DNAH8):c.10637T>C (p.Phe3546Ser)
|
rs142907521
|
0.00121
|
|
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_178452.6(DNAAF1):c.1030+14C>T
|
rs202113269
|
0.00120
|
|
NM_001277115.2(DNAH11):c.4255-7C>G
|
rs72657314
|
0.00119
|
|
NM_001369.3(DNAH5):c.2443T>A (p.Leu815Met)
|
rs149654950
|
0.00119
|
|
NM_001190787.3(MCIDAS):c.1062C>T (p.Ser354=)
|
rs375687696
|
0.00118
|
|
NM_001206927.2(DNAH8):c.1765-18A>C
|
rs189204270
|
0.00118
|
|
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_015896.4(ZMYND10):c.510+8G>C
|
rs201732355
|
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_001369.3(DNAH5):c.7752+7C>G
|
rs143848918
|
0.00116
|
|
NM_016616.5(NME8):c.1077A>G (p.Gln359=)
|
rs142516478
|
0.00116
|
|
NM_080860.4(RSPH1):c.727+19del
|
rs144909525
|
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_001206927.2(DNAH8):c.6528A>C (p.Leu2176=)
|
rs45532134
|
0.00113
|
|
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_012144.4(DNAI1):c.81+61A>G
|
rs192896482
|
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_001364171.2(ODAD1):c.360+18G>T
|
rs60809253
|
0.00106
|
|
NM_001369.3(DNAH5):c.1644+12A>G
|
rs201116549
|
0.00106
|
|
NM_145038.5(DRC1):c.2166+6C>T
|
rs201547851
|
0.00105
|
|
NM_178452.6(DNAAF1):c.1750G>A (p.Asp584Asn)
|
rs142345677
|
0.00105
|
|
NM_001206927.2(DNAH8):c.8088A>G (p.Leu2696=)
|
rs59600851
|
0.00104
|
|
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_015512.5(DNAH1):c.10438A>G (p.Ile3480Val)
|
rs143443167
|
0.00103
|
|
NM_018076.5(ODAD2):c.2983G>A (p.Asp995Asn)
|
rs149981194
|
0.00103
|
|
NM_001190787.3(MCIDAS):c.93C>G (p.Leu31=)
|
rs577029897
|
0.00102
|
|
NM_080860.4(RSPH1):c.501+14A>G
|
rs368082841
|
0.00102
|
|
NM_080860.4(RSPH1):c.683C>T (p.Pro228Leu)
|
rs149604283
|
0.00102
|
|
NM_181426.2(CCDC39):c.1665+5A>G
|
rs560658609
|
0.00102
|
|
NM_181426.2(CCDC39):c.1781C>T (p.Thr594Ile)
|
rs140505857
|
0.00102
|
|
NM_001206927.2(DNAH8):c.7471A>G (p.Ile2491Val)
|
rs148698911
|
0.00101
|
|
NM_001277115.2(DNAH11):c.13257A>G (p.Gly4419=)
|
rs200445638
|
0.00100
|
|
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_015896.4(ZMYND10):c.873+15G>A
|
rs181274355
|
0.00097
|
|
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_001369.3(DNAH5):c.2578-9T>G
|
rs1466288520
|
0.00094
|
|
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_001206927.2(DNAH8):c.3419A>G (p.His1140Arg)
|
rs377516809
|
0.00092
|
|
NM_001206927.2(DNAH8):c.7123A>C (p.Asn2375His)
|
rs141532428
|
0.00092
|
|
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_001369.3(DNAH5):c.5484+20A>C
|
rs376520355
|
0.00092
|
|
NM_023036.6(DNAI2):c.197G>T (p.Arg66Leu)
|
rs147470752
|
0.00092
|
|
NM_031427.4(DNAL1):c.*2923dup
|
rs568527612
|
0.00091
|
|
NM_001277115.2(DNAH11):c.*62T>C
|
rs573090758
|
0.00090
|
|
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_018139.3(DNAAF2):c.1077C>G (p.Val359=)
|
rs765764624
|
0.00090
|
|
NM_178452.6(DNAAF1):c.1030+11_1030+22del
|
rs770613584
|
0.00090
|
|
NM_001206927.2(DNAH8):c.12133T>A (p.Ser4045Thr)
|
rs146262277
|
0.00089
|
|
NM_001277115.2(DNAH11):c.2783A>T (p.Asp928Val)
|
rs201386161
|
0.00089
|
|
NM_001277115.2(DNAH11):c.7811+4A>T
|
rs374167556
|
0.00089
|
|
NM_001369.3(DNAH5):c.6715C>T (p.Pro2239Ser)
|
rs112360385
|
0.00089
|
|
NM_001206927.2(DNAH8):c.11655A>C (p.Ala3885=)
|
rs145561539
|
0.00088
|
|
NM_001277115.2(DNAH11):c.11203-4C>T
|
rs200188856
|
0.00088
|
|
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_001206927.2(DNAH8):c.13747C>T (p.Arg4583Cys)
|
rs144505769
|
0.00087
|
|
NM_001364171.2(ODAD1):c.1866C>T (p.His622=)
|
rs138562401
|
0.00087
|
|
NM_001034853.2(RPGR):c.3371T>A (p.Val1124Asp)
|
rs201671932
|
0.00086
|
|
NM_001190787.3(MCIDAS):c.162G>T (p.Gly54=)
|
rs190259474
|
0.00086
|
|
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_001206927.2(DNAH8):c.4881C>T (p.Ile1627=)
|
rs200549336
|
0.00084
|
|
NM_001277115.2(DNAH11):c.5761G>A (p.Glu1921Lys)
|
rs199613080
|
0.00084
|
|
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_145038.5(DRC1):c.1093G>A (p.Glu365Lys)
|
rs35094910
|
0.00082
|
|
NM_001206927.2(DNAH8):c.3359T>C (p.Ile1120Thr)
|
rs61757622
|
0.00081
|
|
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_017950.4(CCDC40):c.1201C>G (p.Leu401Val)
|
rs201126001
|
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.13049+15C>T
|
rs200860431
|
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_080860.4(RSPH1):c.877+7T>A
|
rs116369489
|
0.00080
|
|
NM_178452.6(DNAAF1):c.546C>G (p.Asn182Lys)
|
rs144018942
|
0.00080
|
|
NM_001277115.2(DNAH11):c.12632C>T (p.Pro4211Leu)
|
rs142585703
|
0.00079
|
|
NM_001369.3(DNAH5):c.1090-14G>T
|
rs150627172
|
0.00079
|
|
NM_017950.4(CCDC40):c.3021+12C>T
|
rs377169531
|
0.00079
|
|
NM_080860.4(RSPH1):c.907A>G (p.Arg303Gly)
|
rs150629342
|
0.00079
|
|
NM_001256715.2(DNAAF3):c.1164-20G>A
|
rs377667731
|
0.00078
|
|
NM_001277115.2(DNAH11):c.12969G>C (p.Gln4323His)
|
rs191802172
|
0.00078
|
|
NM_001277115.2(DNAH11):c.352-9T>C
|
rs368962157
|
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_145038.5(DRC1):c.1750T>A (p.Ser584Thr)
|
rs147712523
|
0.00078
|
|
NM_001277115.2(DNAH11):c.11402C>G (p.Pro3801Arg)
|
rs146362213
|
0.00077
|
|
NM_001369.3(DNAH5):c.11140A>G (p.Ile3714Val)
|
rs143185806
|
0.00077
|
|
NM_001369.3(DNAH5):c.4807C>A (p.Pro1603Thr)
|
rs369137751
|
0.00077
|
|
NM_001369.3(DNAH5):c.9203A>G (p.Glu3068Gly)
|
rs141571121
|
0.00077
|
|
NM_001206927.2(DNAH8):c.10525-11C>T
|
rs141138381
|
0.00076
|
|
NM_015512.5(DNAH1):c.9646C>G (p.Leu3216Val)
|
rs200158571
|
0.00076
|
|
NM_017950.4(CCDC40):c.1722C>A (p.Thr574=)
|
rs201559168
|
0.00076
|
|
NM_017950.4(CCDC40):c.1806+8C>T
|
rs182104049
|
0.00076
|
|
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_001277115.2(DNAH11):c.11967+14T>G
|
rs139663184
|
0.00075
|
|
NM_001206927.2(DNAH8):c.10179T>G (p.Leu3393=)
|
rs146031264
|
0.00074
|
|
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_001034853.2(RPGR):c.2898G>A (p.Gly966=)
|
rs1064797363
|
0.00073
|
|
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_130810.4(DNAAF4):c.4C>T (p.Pro2Ser)
|
rs143493699
|
0.00071
|
|
NM_001206927.2(DNAH8):c.9348+5G>T
|
rs181549177
|
0.00070
|
|
NM_001277115.2(DNAH11):c.695C>T (p.Pro232Leu)
|
rs200454446
|
0.00070
|
|
NM_001277115.2(DNAH11):c.9110A>G (p.His3037Arg)
|
rs192327380
|
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_001369.3(DNAH5):c.8224+15G>A
|
rs148099176
|
0.00070
|
|
NM_017950.4(CCDC40):c.*220C>T
|
rs538221665
|
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.7266+5G>A
|
rs149364992
|
0.00069
|
|
NM_001277115.2(DNAH11):c.9939G>A (p.Val3313=)
|
rs200349268
|
0.00069
|
|
NM_145038.5(DRC1):c.1581G>T (p.Arg527Ser)
|
rs145400360
|
0.00069
|
|
NM_145038.5(DRC1):c.2122A>C (p.Asn708His)
|
rs147970345
|
0.00069
|
|
NM_001206927.2(DNAH8):c.8747+12G>A
|
rs200650850
|
0.00068
|
|
NM_001369.3(DNAH5):c.6445-20A>G
|
rs181135242
|
0.00068
|
|
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_001206927.2(DNAH8):c.2096G>A (p.Arg699His)
|
rs141983502
|
0.00067
|
|
NM_018139.3(DNAAF2):c.1584T>A (p.Asn528Lys)
|
rs144077436
|
0.00067
|
|
NM_021147.5(CCNO):c.107G>A (p.Arg36His)
|
rs142265745
|
0.00067
|
|
NM_001206927.2(DNAH8):c.10794T>G (p.Leu3598=)
|
rs116250863
|
0.00066
|
|
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_001206927.2(DNAH8):c.9673C>A (p.Gln3225Lys)
|
rs138703233
|
0.00065
|
|
NM_001364171.2(ODAD1):c.1796T>C (p.Phe599Ser)
|
rs144225230
|
0.00065
|
|
NM_001369.3(DNAH5):c.2578-10T>G
|
rs756212532
|
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_001034853.2(RPGR):c.2634G>A (p.Gly878=)
|
rs371230592
|
0.00064
|
|
NM_001206927.2(DNAH8):c.7774C>T (p.Arg2592Trp)
|
rs113332942
|
0.00064
|
|
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_001369.3(DNAH5):c.3262+19T>C
|
rs557101898
|
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_001369.3(DNAH5):c.10420-12G>A
|
rs192325309
|
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_001277115.2(DNAH11):c.1680T>A (p.Phe560Leu)
|
rs72655987
|
0.00060
|
|
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_012144.4(DNAI1):c.1570-7C>T
|
rs200144108
|
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_001206927.2(DNAH8):c.8869C>T (p.Arg2957Cys)
|
rs143707632
|
0.00059
|
|
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_033124.5(DRC2):c.680A>G (p.Gln227Arg)
|
rs149640178
|
0.00058
|
|
NM_001277115.2(DNAH11):c.10740C>G (p.Arg3580=)
|
rs114916492
|
0.00057
|
|
NM_001277115.2(DNAH11):c.11691-10T>A
|
rs191073674
|
0.00057
|
|
NM_001369.3(DNAH5):c.12500-11G>A
|
rs200056509
|
0.00057
|
|
NM_001369.3(DNAH5):c.8225-17A>G
|
rs140629887
|
0.00057
|
|
NM_001369.3(DNAH5):c.9410G>A (p.Cys3137Tyr)
|
rs143357437
|
0.00057
|
|
NM_021147.5(CCNO):c.264G>T (p.Gln88His)
|
rs200127292
|
0.00057
|
|
NM_181426.2(CCDC39):c.603C>T (p.Ser201=)
|
rs200422639
|
0.00057
|
|
NM_001034853.2(RPGR):c.2895G>A (p.Glu965=)
|
rs762437958
|
0.00056
|
|
NM_001206927.2(DNAH8):c.14059C>T (p.Arg4687Ter)
|
rs146551804
|
0.00056
|
|
NM_001206927.2(DNAH8):c.789G>A (p.Ala263=)
|
rs61757620
|
0.00056
|
|
NM_001206927.2(DNAH8):c.9285T>C (p.Thr3095=)
|
rs144188084
|
0.00056
|
|
NM_001369.3(DNAH5):c.11231C>A (p.Thr3744Asn)
|
rs529225111
|
0.00056
|
|
NM_001369.3(DNAH5):c.2052+17A>G
|
rs369276405
|
0.00056
|
|
NM_012144.4(DNAI1):c.1923C>T (p.His641=)
|
rs145218397
|
0.00056
|
|
NM_015896.4(ZMYND10):c.480G>A (p.Gly160=)
|
rs138071787
|
0.00056
|
|
NM_018139.3(DNAAF2):c.263G>A (p.Cys88Tyr)
|
rs549457480
|
0.00056
|
|
NM_021147.5(CCNO):c.1002G>C (p.Met334Ile)
|
rs149215991
|
0.00056
|
|
NM_001206927.2(DNAH8):c.2150C>G (p.Ser717Cys)
|
rs145798237
|
0.00055
|
|
NM_001206927.2(DNAH8):c.4800A>T (p.Arg1600Ser)
|
rs141012833
|
0.00055
|
|
NM_001256715.2(DNAAF3):c.1626A>G (p.Ter542Trp)
|
rs199882635
|
0.00055
|
|
NM_015512.5(DNAH1):c.5740G>A (p.Glu1914Lys)
|
rs199740667
|
0.00055
|
|
NM_001277115.2(DNAH11):c.3634T>C (p.Tyr1212His)
|
rs143830019
|
0.00054
|
|
NM_001277115.2(DNAH11):c.9497A>G (p.Gln3166Arg)
|
rs562875579
|
0.00054
|
|
NM_001369.3(DNAH5):c.9898-18G>A
|
rs181478641
|
0.00054
|
|
NM_012144.4(DNAI1):c.40C>T (p.His14Tyr)
|
rs146501326
|
0.00054
|
|
NM_015896.4(ZMYND10):c.564C>G (p.Leu188=)
|
rs144295551
|
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_001206927.2(DNAH8):c.5364-5T>G
|
rs200015017
|
0.00053
|
|
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_145038.5(DRC1):c.1510-6C>A
|
rs201815519
|
0.00053
|
|
NM_178452.6(DNAAF1):c.1988C>T (p.Pro663Leu)
|
rs147393144
|
0.00053
|
|
NM_001206927.2(DNAH8):c.2549A>G (p.Glu850Gly)
|
rs117061525
|
0.00052
|
|
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_001369.3(DNAH5):c.6956C>T (p.Thr2319Met)
|
rs144983881
|
0.00052
|
|
NM_012472.6(DNAAF11):c.1391C>T (p.Pro464Leu)
|
rs139131485
|
0.00052
|
|
NM_015896.4(ZMYND10):c.478G>A (p.Gly160Arg)
|
rs201896308
|
0.00052
|
|
NM_017802.4(DNAAF5):c.1257+19G>T
|
rs371368276
|
0.00052
|
|
NM_021147.5(CCNO):c.685G>A (p.Gly229Ser)
|
rs139980939
|
0.00052
|
|
NM_001206927.2(DNAH8):c.3017A>G (p.Lys1006Arg)
|
rs200071000
|
0.00051
|
|
NM_001256715.2(DNAAF3):c.900C>T (p.Gly300=)
|
rs369275731
|
0.00051
|
|
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_001364171.2(ODAD1):c.361-10T>C
|
rs141961809
|
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_001206927.2(DNAH8):c.3720+13T>C
|
rs369980648
|
0.00050
|
|
NM_145038.5(DRC1):c.98A>G (p.Gln33Arg)
|
rs200121746
|
0.00050
|
|
NM_178452.6(DNAAF1):c.1495C>A (p.Pro499Thr)
|
rs201519478
|
0.00050
|
|
NM_181426.2(CCDC39):c.162T>C (p.Ser54=)
|
rs201308407
|
0.00050
|
|
NM_213607.3(DNAAF19):c.275C>T (p.Pro92Leu)
|
rs142342712
|
0.00050
|
|
NM_001277115.2(DNAH11):c.7294C>T (p.Arg2432Trp)
|
rs188615176
|
0.00049
|
|
NM_003611.3(OFD1):c.2398A>G (p.Arg800Gly)
|
rs139406798
|
0.00049
|
|
NM_080860.4(RSPH1):c.859C>T (p.Arg287Cys)
|
rs143552625
|
0.00049
|
|
NM_178452.6(DNAAF1):c.685C>T (p.His229Tyr)
|
rs35496754
|
0.00049
|
|
NM_001034853.2(RPGR):c.1240G>C (p.Glu414Gln)
|
rs150549982
|
0.00048
|
|
NM_001190787.3(MCIDAS):c.1085C>T (p.Ala362Val)
|
rs539275390
|
0.00048
|
|
NM_001206927.2(DNAH8):c.11695C>T (p.Arg3899Trp)
|
rs138030174
|
0.00048
|
|
NM_001206927.2(DNAH8):c.4303-15T>C
|
rs201364154
|
0.00048
|
|
NM_001206927.2(DNAH8):c.9427C>T (p.Arg3143Cys)
|
rs151313083
|
0.00048
|
|
NM_001277115.2(DNAH11):c.10472G>A (p.Arg3491His)
|
rs370932895
|
0.00048
|
|
NM_001277115.2(DNAH11):c.6352G>A (p.Gly2118Ser)
|
rs72657342
|
0.00048
|
|
NM_023036.6(DNAI2):c.1533G>T (p.Glu511Asp)
|
rs150710001
|
0.00048
|
|
NM_080860.4(RSPH1):c.275-2A>C
|
rs151107532
|
0.00048
|
|
NM_145038.5(DRC1):c.1172C>T (p.Ala391Val)
|
rs148372110
|
0.00048
|
|
NM_181426.2(CCDC39):c.1167+1261A>G
|
rs577069249
|
0.00048
|
|
NM_001206927.2(DNAH8):c.4375G>A (p.Asp1459Asn)
|
rs151175737
|
0.00047
|
|
NM_001277115.2(DNAH11):c.13050-12C>T
|
rs187048874
|
0.00047
|
|
NM_018076.5(ODAD2):c.378T>C (p.Val126=)
|
rs144145876
|
0.00047
|
|
NM_080860.4(RSPH1):c.919C>T (p.Leu307Phe)
|
rs141886699
|
0.00047
|
|
NM_001034853.2(RPGR):c.222C>T (p.Ala74=)
|
rs143521661
|
0.00046
|
|
NM_001206927.2(DNAH8):c.13992G>C (p.Leu4664=)
|
rs371719991
|
0.00046
|
|
NM_001206927.2(DNAH8):c.7335T>C (p.Ala2445=)
|
rs144391737
|
0.00046
|
|
NM_001206927.2(DNAH8):c.8871T>A (p.Arg2957=)
|
rs200109265
|
0.00046
|
|
NM_001277115.2(DNAH11):c.4944+6del
|
rs531049764
|
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_021147.5(CCNO):c.187T>C (p.Ser63Pro)
|
rs377241996
|
0.00046
|
|
NM_145038.5(DRC1):c.1509+15G>A
|
rs558819282
|
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_001206927.2(DNAH8):c.8844T>C (p.Pro2948=)
|
rs138178449
|
0.00045
|
|
NM_012144.4(DNAI1):c.48+2dup
|
rs397515363
|
0.00045
|
|
NM_018139.3(DNAAF2):c.1595A>G (p.Glu532Gly)
|
rs143210369
|
0.00045
|
|
NM_145038.5(DRC1):c.1840C>G (p.Pro614Ala)
|
rs372284377
|
0.00045
|
|
NM_001034853.2(RPGR):c.1399C>A (p.Gln467Lys)
|
rs774321455
|
0.00044
|
|
NM_001190787.3(MCIDAS):c.774C>T (p.Leu258=)
|
rs372120150
|
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.6180+20G>A
|
rs192296726
|
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.1882T>G (p.Leu628Val)
|
rs143745645
|
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_017950.4(CCDC40):c.552G>A (p.Leu184=)
|
rs141588728
|
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_001206927.2(DNAH8):c.12137G>A (p.Arg4046His)
|
rs139446902
|
0.00043
|
|
NM_001206927.2(DNAH8):c.8583+10G>T
|
rs146573461
|
0.00043
|
|
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_017802.4(DNAAF5):c.1394G>A (p.Arg465Gln)
|
rs192289643
|
0.00043
|
|
NM_181426.2(CCDC39):c.1971G>T (p.Glu657Asp)
|
rs111451119
|
0.00043
|
|
NM_213607.3(DNAAF19):c.277-4C>T
|
rs780158239
|
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_001364171.2(ODAD1):c.1502+8G>A
|
rs370587770
|
0.00042
|
|
NM_001364171.2(ODAD1):c.1630G>A (p.Ala544Thr)
|
rs74413005
|
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_015512.5(DNAH1):c.7646A>G (p.Asn2549Ser)
|
rs199694029
|
0.00042
|
|
NM_023036.6(DNAI2):c.1380G>T (p.Val460=)
|
rs148947094
|
0.00042
|
|
NM_001206927.2(DNAH8):c.13722C>G (p.Leu4574=)
|
rs45600141
|
0.00041
|
|
NM_001256715.2(DNAAF3):c.1252G>A (p.Val418Met)
|
rs201231901
|
0.00041
|
|
NM_001369.3(DNAH5):c.2578-7_2578-6del
|
rs1491199769
|
0.00041
|
|
NM_003114.5(SPAG1):c.957T>A (p.Val319=)
|
rs146528350
|
0.00041
|
|
NM_012144.4(DNAI1):c.-41T>C
|
rs200245894
|
0.00041
|
|
NM_018076.5(ODAD2):c.2272A>G (p.Ile758Val)
|
rs143059966
|
0.00041
|
|
NM_080860.4(RSPH1):c.916G>C (p.Asp306His)
|
rs1052502852
|
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_001206927.2(DNAH8):c.10529A>G (p.Asn3510Ser)
|
rs145843224
|
0.00040
|
|
NM_001206927.2(DNAH8):c.13468C>T (p.Arg4490Cys)
|
rs78849281
|
0.00040
|
|
NM_001206927.2(DNAH8):c.5958+9T>C
|
rs138219280
|
0.00040
|
|
NM_001206927.2(DNAH8):c.6612C>T (p.Ser2204=)
|
rs145106656
|
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_001206927.2(DNAH8):c.11819C>A (p.Ser3940Tyr)
|
rs182335901
|
0.00039
|
|
NM_001206927.2(DNAH8):c.8238G>C (p.Val2746=)
|
rs147418086
|
0.00039
|
|
NM_001277115.2(DNAH11):c.1973+8G>C
|
rs374509704
|
0.00039
|
|
NM_001277115.2(DNAH11):c.2170-12G>A
|
rs117981425
|
0.00039
|
|
NM_001277115.2(DNAH11):c.5138C>T (p.Thr1713Met)
|
rs202034810
|
0.00039
|
|
NM_001277115.2(DNAH11):c.9566C>T (p.Ala3189Val)
|
rs767006890
|
0.00039
|
|
NM_001369.3(DNAH5):c.11476C>T (p.Leu3826Phe)
|
rs146750552
|
0.00039
|
|
NM_001369.3(DNAH5):c.13125+10T>A
|
rs2277047
|
0.00039
|
|
NM_001369.3(DNAH5):c.13778C>T (p.Thr4593Met)
|
rs142036266
|
0.00039
|
|
NM_001369.3(DNAH5):c.4525G>A (p.Val1509Met)
|
rs140345677
|
0.00039
|
|
NM_001369.3(DNAH5):c.975+6C>T
|
rs151000177
|
0.00039
|
|
NM_017802.4(DNAAF5):c.550C>A (p.Arg184Ser)
|
rs878855039
|
0.00039
|
|
NM_001034853.2(RPGR):c.154+14T>C
|
rs200069705
|
0.00038
|
|
NM_001206927.2(DNAH8):c.12951+15G>T
|
rs367661246
|
0.00038
|
|
NM_001206927.2(DNAH8):c.4111G>A (p.Glu1371Lys)
|
rs149020489
|
0.00038
|
|
NM_001206927.2(DNAH8):c.4503G>A (p.Leu1501=)
|
rs61757624
|
0.00038
|
|
NM_001206927.2(DNAH8):c.9739A>G (p.Arg3247Gly)
|
rs146938126
|
0.00038
|
|
NM_001206927.2(DNAH8):c.991A>G (p.Thr331Ala)
|
rs143492695
|
0.00038
|
|
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_017802.4(DNAAF5):c.905+15G>A
|
rs200552045
|
0.00038
|
|
NM_017950.4(CCDC40):c.3130T>A (p.Phe1044Ile)
|
rs377222257
|
0.00038
|
|
NM_018139.3(DNAAF2):c.2281A>G (p.Thr761Ala)
|
rs148936584
|
0.00038
|
|
NM_145038.5(DRC1):c.402C>T (p.Phe134=)
|
rs200560247
|
0.00038
|
|
NM_001034853.2(RPGR):c.1059+6G>A
|
rs377731326
|
0.00037
|
|
NM_001034853.2(RPGR):c.2922G>A (p.Gly974=)
|
rs769179127
|
0.00037
|
|
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_001369.3(DNAH5):c.2067T>C (p.His689=)
|
rs140630779
|
0.00037
|
|
NM_003114.5(SPAG1):c.205G>A (p.Ala69Thr)
|
rs149271265
|
0.00037
|
|
NM_001206927.2(DNAH8):c.12656G>A (p.Arg4219Gln)
|
rs144808884
|
0.00036
|
|
NM_001206927.2(DNAH8):c.2804A>G (p.His935Arg)
|
rs150379318
|
0.00036
|
|
NM_001206927.2(DNAH8):c.911T>C (p.Ile304Thr)
|
rs138258349
|
0.00036
|
|
NM_001256715.2(DNAAF3):c.1414G>A (p.Gly472Arg)
|
rs201919395
|
0.00036
|
|
NM_001277115.2(DNAH11):c.11418C>T (p.Phe3806=)
|
rs187814474
|
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_018719.5(CDCA7L):c.*1333C>T
|
rs114694338
|
0.00036
|
|
NM_023036.6(DNAI2):c.1574C>T (p.Ala525Val)
|
rs145602856
|
0.00036
|
|
NM_080860.4(RSPH1):c.546A>G (p.Gln182=)
|
rs139625725
|
0.00036
|
|
NM_145038.5(DRC1):c.1420G>A (p.Ala474Thr)
|
rs145706376
|
0.00036
|
|
NM_181426.2(CCDC39):c.730T>C (p.Cys244Arg)
|
rs758850119
|
0.00036
|
|
NM_001034853.2(RPGR):c.785C>G (p.Ala262Gly)
|
rs138018739
|
0.00035
|
|
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.5528A>C (p.Glu1843Ala)
|
rs147599966
|
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_015512.5(DNAH1):c.8048G>A (p.Arg2683Gln)
|
rs77451372
|
0.00035
|
|
NM_017802.4(DNAAF5):c.1185G>A (p.Thr395=)
|
rs139675128
|
0.00035
|
|
NM_017802.4(DNAAF5):c.1325C>T (p.Ser442Leu)
|
rs146938307
|
0.00035
|
|
NM_017802.4(DNAAF5):c.787C>T (p.Arg263Trp)
|
rs143045012
|
0.00035
|
|
NM_080860.4(RSPH1):c.315C>T (p.Tyr105=)
|
rs144037391
|
0.00035
|
|
NM_178452.6(DNAAF1):c.1506G>A (p.Pro502=)
|
rs373515859
|
0.00035
|
|
NM_181426.2(CCDC39):c.1137T>C (p.Asp379=)
|
rs374132008
|
0.00035
|
|
NM_001034853.2(RPGR):c.141T>G (p.Ser47=)
|
rs62638631
|
0.00034
|
|
NM_001206927.2(DNAH8):c.10287A>G (p.Pro3429=)
|
rs369728224
|
0.00034
|
|
NM_001206927.2(DNAH8):c.11468C>T (p.Ala3823Val)
|
rs185283741
|
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_001277115.2(DNAH11):c.7441-10C>G
|
rs368901468
|
0.00034
|
|
NM_001369.3(DNAH5):c.1126G>T (p.Ala376Ser)
|
rs201469505
|
0.00034
|
|
NM_001369.3(DNAH5):c.13073G>A (p.Arg4358Gln)
|
rs144949095
|
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_145038.5(DRC1):c.2075C>G (p.Thr692Ser)
|
rs201260214
|
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_001206927.2(DNAH8):c.4512C>T (p.Thr1504=)
|
rs200564814
|
0.00033
|
|
NM_001256715.2(DNAAF3):c.705C>G (p.Asp235Glu)
|
rs371668705
|
0.00033
|
|
NM_001277115.2(DNAH11):c.11839+12G>C
|
rs148063720
|
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_080860.4(RSPH1):c.98G>A (p.Arg33His)
|
rs145742147
|
0.00033
|
|
NM_145038.5(DRC1):c.1418C>T (p.Ala473Val)
|
rs199574440
|
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_001206927.2(DNAH8):c.13300C>T (p.Arg4434Trp)
|
rs189023122
|
0.00032
|
|
NM_001206927.2(DNAH8):c.6137A>G (p.Tyr2046Cys)
|
rs200037660
|
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_145038.5(DRC1):c.2076C>T (p.Thr692=)
|
rs141191674
|
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_213607.3(DNAAF19):c.104G>A (p.Arg35Gln)
|
rs587783065
|
0.00032
|
|
NM_000328.3(RPGR):c.1906G>T (p.Asp636Tyr)
|
rs770101727
|
0.00031
|
|
NM_001034853.2(RPGR):c.153C>T (p.Thr51=)
|
rs201242851
|
0.00031
|
|
NM_001206927.2(DNAH8):c.10773C>G (p.Phe3591Leu)
|
rs147574550
|
0.00031
|
|
NM_001206927.2(DNAH8):c.1095A>G (p.Val365=)
|
rs142065001
|
0.00031
|
|
NM_001206927.2(DNAH8):c.644G>A (p.Gly215Glu)
|
rs200815756
|
0.00031
|
|
NM_001277115.2(DNAH11):c.12195+11G>A
|
rs369874287
|
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.4306C>T (p.Arg1436Trp)
|
rs183489539
|
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_001277115.2(DNAH11):c.8510+15C>G
|
rs370252599
|
0.00031
|
|
NM_001369.3(DNAH5):c.11570+13G>A
|
rs80199741
|
0.00031
|
|
NM_001369.3(DNAH5):c.11570+8T>C
|
rs369789559
|
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_017950.4(CCDC40):c.1479G>T (p.Arg493Ser)
|
rs201739201
|
0.00031
|
|
NM_018139.3(DNAAF2):c.1329C>T (p.His443=)
|
rs190354993
|
0.00031
|
|
NM_080860.4(RSPH1):c.727A>G (p.Ser243Gly)
|
rs137935071
|
0.00031
|
|
NM_001206927.2(DNAH8):c.6694G>A (p.Val2232Ile)
|
rs141684275
|
0.00030
|
|
NM_001206927.2(DNAH8):c.9710T>C (p.Val3237Ala)
|
rs141147863
|
0.00030
|
|
NM_001256715.2(DNAAF3):c.1239-15G>A
|
rs199947168
|
0.00030
|
|
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_001364171.2(ODAD1):c.548T>G (p.Leu183Arg)
|
rs554391472
|
0.00030
|
|
NM_001369.3(DNAH5):c.2200C>G (p.Leu734Val)
|
rs139180192
|
0.00030
|
|
NM_001369.3(DNAH5):c.507G>A (p.Ser169=)
|
rs146663590
|
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_001206927.2(DNAH8):c.13494G>T (p.Leu4498Phe)
|
rs577421218
|
0.00029
|
|
NM_001206927.2(DNAH8):c.14019C>G (p.Pro4673=)
|
rs142478578
|
0.00029
|
|
NM_001206927.2(DNAH8):c.14075C>T (p.Pro4692Leu)
|
rs147878071
|
0.00029
|
|
NM_001277115.2(DNAH11):c.10692-7C>T
|
rs368833367
|
0.00029
|
|
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_001364171.2(ODAD1):c.576C>T (p.Asn192=)
|
rs549795539
|
0.00029
|
|
NM_001369.3(DNAH5):c.4054-20T>C
|
rs371107640
|
0.00029
|
|
NM_001369.3(DNAH5):c.5413C>T (p.Arg1805Cys)
|
rs142155986
|
0.00029
|
|
NM_001369.3(DNAH5):c.6842-14T>C
|
rs752476180
|
0.00029
|
|
NM_001369.3(DNAH5):c.9461A>C (p.Asp3154Ala)
|
rs149187750
|
0.00029
|
|
NM_001369.3(DNAH5):c.9503G>A (p.Arg3168Gln)
|
rs145445858
|
0.00029
|
|
NM_001369.3(DNAH5):c.971T>C (p.Leu324Pro)
|
rs138034431
|
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.1109G>A (p.Arg370His)
|
rs77027689
|
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_145038.5(DRC1):c.1399G>C (p.Glu467Gln)
|
rs149007147
|
0.00029
|
|
NM_145038.5(DRC1):c.352C>T (p.Gln118Ter)
|
rs142371860
|
0.00029
|
|
NM_001206927.2(DNAH8):c.12583C>T (p.Leu4195=)
|
rs200315521
|
0.00028
|
|
NM_001206927.2(DNAH8):c.4231A>G (p.Lys1411Glu)
|
rs140704775
|
0.00028
|
|
NM_001256715.2(DNAAF3):c.*28A>C
|
rs201512228
|
0.00028
|
|
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_001206927.2(DNAH8):c.737C>T (p.Ala246Val)
|
rs146560083
|
0.00027
|
|
NM_001206927.2(DNAH8):c.9064-20C>T
|
rs111463472
|
0.00027
|
|
NM_001206927.2(DNAH8):c.9375G>A (p.Glu3125=)
|
rs142453787
|
0.00027
|
|
NM_001270974.2(HYDIN):c.1797C>G (p.Tyr599Ter)
|
rs760517494
|
0.00027
|
|
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.2005G>A (p.Gly669Arg)
|
rs140189114
|
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_012144.4(DNAI1):c.1311+16G>T
|
rs138397479
|
0.00027
|
|
NM_080860.4(RSPH1):c.797C>T (p.Pro266Leu)
|
rs146309440
|
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_178452.6(DNAAF1):c.863+17C>G
|
rs200161964
|
0.00027
|
|
NM_181426.2(CCDC39):c.2557C>T (p.Arg853Cys)
|
rs201097154
|
0.00027
|
|
NM_001034853.2(RPGR):c.2055A>G (p.Glu685=)
|
rs370892592
|
0.00026
|
|
NM_001190787.3(MCIDAS):c.606+20G>A
|
rs777964921
|
0.00026
|
|
NM_001206927.2(DNAH8):c.13599G>A (p.Ser4533=)
|
rs150470972
|
0.00026
|
|
NM_001206927.2(DNAH8):c.13607T>C (p.Leu4536Pro)
|
rs138278528
|
0.00026
|
|
NM_001206927.2(DNAH8):c.1962+15C>A
|
rs192638290
|
0.00026
|
|
NM_001206927.2(DNAH8):c.4467-6T>G
|
rs373703082
|
0.00026
|
|
NM_001256715.2(DNAAF3):c.1124G>A (p.Cys375Tyr)
|
rs549436949
|
0.00026
|
|
NM_001277115.2(DNAH11):c.13377C>T (p.Val4459=)
|
rs199706799
|
0.00026
|
|
NM_001277115.2(DNAH11):c.3139G>A (p.Glu1047Lys)
|
rs77008420
|
0.00026
|
|
NM_001277115.2(DNAH11):c.8745C>A (p.Ala2915=)
|
rs532384466
|
0.00026
|
|
NM_001277115.2(DNAH11):c.9942G>A (p.Glu3314=)
|
rs370271115
|
0.00026
|
|
NM_001369.3(DNAH5):c.11234A>G (p.His3745Arg)
|
rs36088710
|
0.00026
|
|
NM_001369.3(DNAH5):c.2431+5G>A
|
rs369244905
|
0.00026
|
|
NM_001369.3(DNAH5):c.367C>T (p.Leu123Phe)
|
rs148017278
|
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_017802.4(DNAAF5):c.1024+12C>A
|
rs371766301
|
0.00026
|
|
NM_017802.4(DNAAF5):c.1471-12G>A
|
rs370817681
|
0.00026
|
|
NM_017950.4(CCDC40):c.1445G>A (p.Cys482Tyr)
|
rs367601192
|
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_001190787.3(MCIDAS):c.210G>A (p.Ala70=)
|
rs775778104
|
0.00025
|
|
NM_001206927.2(DNAH8):c.11274+12A>G
|
rs199854606
|
0.00025
|
|
NM_001206927.2(DNAH8):c.1515+18G>A
|
rs147891859
|
0.00025
|
|
NM_001206927.2(DNAH8):c.3706G>C (p.Asp1236His)
|
rs201420305
|
0.00025
|
|
NM_001206927.2(DNAH8):c.384G>C (p.Glu128Asp)
|
rs116164504
|
0.00025
|
|
NM_001206927.2(DNAH8):c.4610G>A (p.Arg1537His)
|
rs375507271
|
0.00025
|
|
NM_001206927.2(DNAH8):c.5545A>T (p.Ile1849Leu)
|
rs145036630
|
0.00025
|
|
NM_001277115.2(DNAH11):c.11804C>T (p.Pro3935Leu)
|
rs72658814
|
0.00025
|
|
NM_001277115.2(DNAH11):c.4945-12T>C
|
rs141572016
|
0.00025
|
|
NM_001277115.2(DNAH11):c.4945-16A>G
|
rs72657328
|
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_031427.4(DNAL1):c.*6161_*6162insCA
|
rs886050720
|
0.00025
|
|
NM_031924.8(RSPH3):c.1082T>G (p.Leu361Arg)
|
rs138781661
|
0.00025
|
|
NM_145038.5(DRC1):c.421T>G (p.Trp141Gly)
|
rs139583194
|
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_001277115.2(DNAH11):c.3853-5C>G
|
rs367628980
|
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_001372.4(DNAH9):c.7169A>C (p.Gln2390Pro)
|
rs139937259
|
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_018139.3(DNAAF2):c.972C>T (p.Tyr324=)
|
rs370818914
|
0.00024
|
|
NM_023036.6(DNAI2):c.854C>T (p.Thr285Met)
|
rs141079076
|
0.00024
|
|
NM_080860.4(RSPH1):c.673C>T (p.Pro225Ser)
|
rs562591045
|
0.00024
|
|
NM_152732.5(RSPH9):c.819C>T (p.Pro273=)
|
rs79412180
|
0.00024
|
|
NM_181426.2(CCDC39):c.1035-5T>C
|
rs200089274
|
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_001190787.3(MCIDAS):c.1040C>T (p.Ser347Phe)
|
rs561481156
|
0.00023
|
|
NM_001206927.2(DNAH8):c.10173G>A (p.Arg3391=)
|
rs370433159
|
0.00023
|
|
NM_001206927.2(DNAH8):c.3048C>T (p.His1016=)
|
rs373742505
|
0.00023
|
|
NM_001206927.2(DNAH8):c.5466+17T>C
|
rs201352103
|
0.00023
|
|
NM_001206927.2(DNAH8):c.7714A>C (p.Met2572Leu)
|
rs151051760
|
0.00023
|
|
NM_001206927.2(DNAH8):c.9277A>G (p.Ile3093Val)
|
rs139533720
|
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.12601C>T (p.Pro4201Ser)
|
rs200166341
|
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.7365C>T (p.Asp2455=)
|
rs183855253
|
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_018139.3(DNAAF2):c.700C>T (p.Pro234Ser)
|
rs776126134
|
0.00023
|
|
NM_145038.5(DRC1):c.990C>T (p.Ser330=)
|
rs149344139
|
0.00023
|
|
NM_178452.6(DNAAF1):c.735C>T (p.Pro245=)
|
rs139566676
|
0.00023
|
|
NM_001206927.2(DNAH8):c.13445T>C (p.Met4482Thr)
|
rs142409299
|
0.00022
|
|
NM_001206927.2(DNAH8):c.5185A>C (p.Lys1729Gln)
|
rs148767488
|
0.00022
|
|
NM_001206927.2(DNAH8):c.611-13C>A
|
rs559658939
|
0.00022
|
|
NM_001256715.2(DNAAF3):c.1049-1G>A
|
rs199590885
|
0.00022
|
|
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.11761+5A>G
|
rs780205801
|
0.00022
|
|
NM_001369.3(DNAH5):c.12279+20T>G
|
rs201220143
|
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_015896.4(ZMYND10):c.88G>A (p.Glu30Lys)
|
rs587731307
|
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.1459G>A (p.Ala487Thr)
|
rs185157579
|
0.00022
|
|
NM_017950.4(CCDC40):c.384A>G (p.Ala128=)
|
rs375586063
|
0.00022
|
|
NM_080860.4(RSPH1):c.732A>G (p.Ala244=)
|
rs141241740
|
0.00022
|
|
NM_145038.5(DRC1):c.1247C>G (p.Ala416Gly)
|
rs202052258
|
0.00022
|
|
NM_145038.5(DRC1):c.1519A>C (p.Ile507Leu)
|
rs188055173
|
0.00022
|
|
NM_145038.5(DRC1):c.215G>C (p.Ser72Thr)
|
rs149398412
|
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_001034853.2(RPGR):c.2729G>A (p.Gly910Glu)
|
rs749762268
|
0.00021
|
|
NM_001190787.3(MCIDAS):c.1050C>G (p.Thr350=)
|
rs751433727
|
0.00021
|
|
NM_001190787.3(MCIDAS):c.234C>T (p.Asp78=)
|
rs756870581
|
0.00021
|
|
NM_001206927.2(DNAH8):c.13562G>A (p.Arg4521His)
|
rs143366223
|
0.00021
|
|
NM_001206927.2(DNAH8):c.1548A>G (p.Ala516=)
|
rs146078369
|
0.00021
|
|
NM_001206927.2(DNAH8):c.2597A>G (p.Tyr866Cys)
|
rs144797040
|
0.00021
|
|
NM_001206927.2(DNAH8):c.318C>T (p.Ser106=)
|
rs375770956
|
0.00021
|
|
NM_001206927.2(DNAH8):c.725G>A (p.Arg242His)
|
rs142863013
|
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.13010G>A (p.Ser4337Asn)
|
rs759646661
|
0.00021
|
|
NM_001277115.2(DNAH11):c.13213C>T (p.Arg4405Cys)
|
rs371929703
|
0.00021
|
|
NM_001277115.2(DNAH11):c.4254+13G>A
|
rs371484690
|
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_001277115.2(DNAH11):c.9925-7T>C
|
rs146815254
|
0.00021
|
|
NM_001364171.2(ODAD1):c.1222C>A (p.Leu408Met)
|
rs150271983
|
0.00021
|
|
NM_001369.3(DNAH5):c.1536+9C>T
|
rs766017243
|
0.00021
|
|
NM_001369.3(DNAH5):c.39C>T (p.Ser13=)
|
rs370788337
|
0.00021
|
|
NM_001369.3(DNAH5):c.4082C>G (p.Pro1361Arg)
|
rs145533843
|
0.00021
|
|
NM_001369.3(DNAH5):c.7753-7A>G
|
rs374025017
|
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_012144.4(DNAI1):c.1813G>A (p.Gly605Arg)
|
rs145255472
|
0.00021
|
|
NM_015896.4(ZMYND10):c.373-14C>T
|
rs183796437
|
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_023036.6(DNAI2):c.571C>T (p.Pro191Ser)
|
rs201457010
|
0.00021
|
|
NM_080860.4(RSPH1):c.429C>T (p.Asn143=)
|
rs145575234
|
0.00021
|
|
NM_145038.5(DRC1):c.2139G>A (p.Ala713=)
|
rs139421793
|
0.00021
|
|
NM_145038.5(DRC1):c.26C>T (p.Ala9Val)
|
rs146049908
|
0.00021
|
|
NM_145038.5(DRC1):c.655C>T (p.Arg219Cys)
|
rs577516330
|
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_001034853.2(RPGR):c.1507-18A>G
|
rs113851995
|
0.00020
|
|
NM_001206927.2(DNAH8):c.12496C>T (p.Arg4166Ter)
|
rs150428096
|
0.00020
|
|
NM_001206927.2(DNAH8):c.7969T>C (p.Phe2657Leu)
|
rs372849137
|
0.00020
|
|
NM_001206927.2(DNAH8):c.9839A>T (p.Gln3280Leu)
|
rs180859001
|
0.00020
|
|
NM_001256715.2(DNAAF3):c.-91C>T
|
rs80026905
|
0.00020
|
|
NM_001277115.2(DNAH11):c.1824A>G (p.Gln608=)
|
rs188265394
|
0.00020
|
|
NM_001277115.2(DNAH11):c.1866A>C (p.Val622=)
|
rs750617653
|
0.00020
|
|
NM_001277115.2(DNAH11):c.472C>T (p.His158Tyr)
|
rs374186868
|
0.00020
|
|
NM_001277115.2(DNAH11):c.5621+19C>T
|
rs368278835
|
0.00020
|
|
NM_001277115.2(DNAH11):c.982+8T>A
|
rs72655978
|
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_017950.4(CCDC40):c.2235+11A>G
|
rs138341523
|
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_080860.4(RSPH1):c.574-18T>C
|
rs200788622
|
0.00020
|
|
NM_152732.5(RSPH9):c.421G>A (p.Val141Met)
|
rs2295947
|
0.00020
|
|
NM_178452.6(DNAAF1):c.1838C>A (p.Thr613Asn)
|
rs145075337
|
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_001206927.2(DNAH8):c.10081G>A (p.Ala3361Thr)
|
rs368251682
|
0.00019
|
|
NM_001206927.2(DNAH8):c.12008-8T>C
|
rs772870720
|
0.00019
|
|
NM_001206927.2(DNAH8):c.2980A>T (p.Ile994Leu)
|
rs141818413
|
0.00019
|
|
NM_001206927.2(DNAH8):c.451A>G (p.Ile151Val)
|
rs371708059
|
0.00019
|
|
NM_001206927.2(DNAH8):c.5169A>G (p.Val1723=)
|
rs149635351
|
0.00019
|
|
NM_001206927.2(DNAH8):c.8224A>C (p.Ile2742Leu)
|
rs371362386
|
0.00019
|
|
NM_001256715.2(DNAAF3):c.466C>T (p.Leu156Phe)
|
rs372945469
|
0.00019
|
|
NM_001277115.2(DNAH11):c.10245G>A (p.Ala3415=)
|
rs199799310
|
0.00019
|
|
NM_001277115.2(DNAH11):c.1134_1139del (p.Asn379_Thr380del)
|
rs765249771
|
0.00019
|
|
NM_001277115.2(DNAH11):c.11400C>T (p.Asp3800=)
|
rs372458551
|
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_001277115.2(DNAH11):c.2499C>T (p.Asn833=)
|
rs201231307
|
0.00019
|
|
NM_001364171.2(ODAD1):c.989-20G>A
|
rs372350529
|
0.00019
|
|
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs)
|
rs397515540
|
0.00019
|
|
NM_001369.3(DNAH5):c.11954A>G (p.Asn3985Ser)
|
rs200865219
|
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_015896.4(ZMYND10):c.47T>G (p.Val16Gly)
|
rs138815960
|
0.00019
|
|
NM_016616.5(NME8):c.226C>A (p.Gln76Lys)
|
rs142570057
|
0.00019
|
|
NM_017802.4(DNAAF5):c.1783+7C>T
|
rs748320384
|
0.00019
|
|
NM_017802.4(DNAAF5):c.1893C>T (p.Thr631=)
|
rs149101412
|
0.00019
|
|
NM_017802.4(DNAAF5):c.2200G>A (p.Gly734Ser)
|
rs191515363
|
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_018139.3(DNAAF2):c.332G>C (p.Arg111Pro)
|
rs549781788
|
0.00019
|
|
NM_021147.5(CCNO):c.605C>T (p.Ala202Val)
|
rs143998638
|
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_080860.4(RSPH1):c.94G>A (p.Gly32Arg)
|
rs543602231
|
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_001034853.2(RPGR):c.1754-10C>G
|
rs368767915
|
0.00018
|
|
NM_001206927.2(DNAH8):c.10525-13T>G
|
rs375416264
|
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.1967C>T (p.Ala656Val)
|
rs147911274
|
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_001369.3(DNAH5):c.9781A>G (p.Lys3261Glu)
|
rs146215039
|
0.00018
|
|
NM_003114.5(SPAG1):c.1923C>T (p.Asp641=)
|
rs143972848
|
0.00018
|
|
NM_017802.4(DNAAF5):c.1706G>A (p.Arg569Gln)
|
rs145493813
|
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_031427.4(DNAL1):c.*5630del
|
rs746876867
|
0.00018
|
|
NM_080860.4(RSPH1):c.684G>A (p.Pro228=)
|
rs138330014
|
0.00018
|
|
NM_145038.5(DRC1):c.1124G>A (p.Arg375His)
|
rs141347582
|
0.00018
|
|
NM_178452.6(DNAAF1):c.1698+9C>T
|
rs371678330
|
0.00018
|
|
NM_001010892.3(RSPH4A):c.1536G>A (p.Glu512=)
|
rs533664718
|
0.00017
|
|
NM_001034853.2(RPGR):c.2580A>G (p.Glu860=)
|
rs1257370946
|
0.00017
|
|
NM_001206927.2(DNAH8):c.10841C>T (p.Pro3614Leu)
|
rs368846740
|
0.00017
|
|
NM_001206927.2(DNAH8):c.11865G>T (p.Glu3955Asp)
|
rs377043320
|
0.00017
|
|
NM_001206927.2(DNAH8):c.11972C>T (p.Thr3991Ile)
|
rs145485818
|
0.00017
|
|
NM_001206927.2(DNAH8):c.12933T>C (p.Asp4311=)
|
rs143973202
|
0.00017
|
|
NM_001206927.2(DNAH8):c.13858C>T (p.Leu4620Phe)
|
rs139810428
|
0.00017
|
|
NM_001206927.2(DNAH8):c.3150+13G>A
|
rs373316823
|
0.00017
|
|
NM_001206927.2(DNAH8):c.9811G>T (p.Ala3271Ser)
|
rs137889757
|
0.00017
|
|
NM_001256715.2(DNAAF3):c.862G>A (p.Glu288Lys)
|
rs551121979
|
0.00017
|
|
NM_001277115.2(DNAH11):c.*156T>C
|
rs547875413
|
0.00017
|
|
NM_001277115.2(DNAH11):c.13050-20T>A
|
rs200959017
|
0.00017
|
|
NM_001277115.2(DNAH11):c.13162+12C>T
|
rs191638909
|
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.1401+7A>G
|
rs370745702
|
0.00017
|
|
NM_012144.4(DNAI1):c.180G>A (p.Ala60=)
|
rs201120508
|
0.00017
|
|
NM_012144.4(DNAI1):c.501+15C>T
|
rs369759767
|
0.00017
|
|
NM_012144.4(DNAI1):c.520G>A (p.Glu174Lys)
|
rs141157671
|
0.00017
|
|
NM_015512.5(DNAH1):c.6212T>G (p.Leu2071Arg)
|
rs757396103
|
0.00017
|
|
NM_017802.4(DNAAF5):c.1719G>A (p.Ser573=)
|
rs374651851
|
0.00017
|
|
NM_017950.4(CCDC40):c.1025A>G (p.Gln342Arg)
|
rs201057426
|
0.00017
|
|
NM_017950.4(CCDC40):c.1800C>G (p.Asp600Glu)
|
rs965506812
|
0.00017
|
|
NM_017950.4(CCDC40):c.697G>A (p.Asp233Asn)
|
rs201815496
|
0.00017
|
|
NM_017950.4(CCDC40):c.772A>G (p.Met258Val)
|
rs200614903
|
0.00017
|
|
NM_023036.6(DNAI2):c.1356C>T (p.Asp452=)
|
rs748264709
|
0.00017
|
|
NM_145038.5(DRC1):c.2166+9C>T
|
rs373951532
|
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_181426.2(CCDC39):c.2266-5T>C
|
rs200409307
|
0.00017
|
|
NM_181426.2(CCDC39):c.547T>C (p.Leu183=)
|
rs375301243
|
0.00017
|
|
NM_001010892.3(RSPH4A):c.242C>T (p.Ser81Leu)
|
rs371869815
|
0.00016
|
|
NM_001034853.2(RPGR):c.2517A>G (p.Glu839=)
|
rs755138994
|
0.00016
|
|
NM_001034853.2(RPGR):c.394G>A (p.Val132Ile)
|
rs768274240
|
0.00016
|
|
NM_001206927.2(DNAH8):c.1192C>T (p.Arg398Cys)
|
rs370751861
|
0.00016
|
|
NM_001206927.2(DNAH8):c.12008-19G>C
|
rs377740762
|
0.00016
|
|
NM_001206927.2(DNAH8):c.3582G>A (p.Ala1194=)
|
rs199802771
|
0.00016
|
|
NM_001206927.2(DNAH8):c.9167A>G (p.Tyr3056Cys)
|
rs139564138
|
0.00016
|
|
NM_001277115.2(DNAH11):c.11042T>C (p.Val3681Ala)
|
rs372733227
|
0.00016
|
|
NM_001277115.2(DNAH11):c.12407G>A (p.Arg4136His)
|
rs372603233
|
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.3646G>A (p.Glu1216Lys)
|
rs201197846
|
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.6010G>A (p.Glu2004Lys)
|
rs772193258
|
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_001364171.2(ODAD1):c.991G>A (p.Glu331Lys)
|
rs142193030
|
0.00016
|
|
NM_001369.3(DNAH5):c.10789G>T (p.Ala3597Ser)
|
rs368959723
|
0.00016
|
|
NM_001369.3(DNAH5):c.2052+18T>C
|
rs200293546
|
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_015896.4(ZMYND10):c.637C>T (p.His213Tyr)
|
rs199711270
|
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.2601G>A (p.Glu867=)
|
rs200841842
|
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_018139.3(DNAAF2):c.417C>T (p.Tyr139=)
|
rs776421647
|
0.00016
|
|
NM_080860.4(RSPH1):c.398C>T (p.Thr133Met)
|
rs529237191
|
0.00016
|
|
NM_080860.4(RSPH1):c.502-18G>A
|
rs371221411
|
0.00016
|
|
NM_080860.4(RSPH1):c.727+15C>G
|
rs202146973
|
0.00016
|
|
NM_145038.5(DRC1):c.1186G>A (p.Glu396Lys)
|
rs774466512
|
0.00016
|
|
NM_178452.6(DNAAF1):c.1528+11C>T
|
rs375586650
|
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_001034853.2(RPGR):c.2331G>A (p.Lys777=)
|
rs1032517565
|
0.00015
|
|
NM_001034853.2(RPGR):c.310+10T>C
|
rs373028441
|
0.00015
|
|
NM_001034853.2(RPGR):c.620-17T>C
|
rs373591143
|
0.00015
|
|
NM_001206927.2(DNAH8):c.10308+17A>G
|
rs373062765
|
0.00015
|
|
NM_001206927.2(DNAH8):c.1116+14A>G
|
rs562929824
|
0.00015
|
|
NM_001206927.2(DNAH8):c.11490G>A (p.Glu3830=)
|
rs375619692
|
0.00015
|
|
NM_001206927.2(DNAH8):c.11726A>T (p.Tyr3909Phe)
|
rs373142030
|
0.00015
|
|
NM_001206927.2(DNAH8):c.1860A>C (p.Ile620=)
|
rs149013727
|
0.00015
|
|
NM_001206927.2(DNAH8):c.1952A>G (p.Asn651Ser)
|
rs375668014
|
0.00015
|
|
NM_001206927.2(DNAH8):c.5872A>G (p.Thr1958Ala)
|
rs150691309
|
0.00015
|
|
NM_001206927.2(DNAH8):c.8418A>G (p.Gln2806=)
|
rs146625912
|
0.00015
|
|
NM_001256715.2(DNAAF3):c.291C>G (p.Ala97=)
|
rs569627336
|
0.00015
|
|
NM_001256715.2(DNAAF3):c.469C>T (p.Arg157Cys)
|
rs369116839
|
0.00015
|
|
NM_001277115.2(DNAH11):c.10128C>A (p.Ile3376=)
|
rs368988134
|
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.6180+14T>G
|
rs188742471
|
0.00015
|
|
NM_001277115.2(DNAH11):c.9305G>A (p.Gly3102Asp)
|
rs774083447
|
0.00015
|
|
NM_001277115.2(DNAH11):c.9576T>G (p.Ala3192=)
|
rs766295022
|
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.12499+20C>T
|
rs753369259
|
0.00015
|
|
NM_001369.3(DNAH5):c.1335C>T (p.Cys445=)
|
rs192739957
|
0.00015
|
|
NM_001369.3(DNAH5):c.1644+16A>T
|
rs182804991
|
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.4587G>A (p.Glu1529=)
|
rs569428035
|
0.00015
|
|
NM_001369.3(DNAH5):c.4687G>A (p.Gly1563Ser)
|
rs147567352
|
0.00015
|
|
NM_001369.3(DNAH5):c.976-11A>G
|
rs767964669
|
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.1523T>C (p.Ile508Thr)
|
rs148238282
|
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_017950.4(CCDC40):c.38C>T (p.Pro13Leu)
|
rs541172966
|
0.00015
|
|
NM_021147.5(CCNO):c.62A>G (p.Asn21Ser)
|
rs748757403
|
0.00015
|
|
NM_023036.6(DNAI2):c.1146G>A (p.Thr382=)
|
rs142571722
|
0.00015
|
|
NM_023036.6(DNAI2):c.1347+12G>A
|
rs371641997
|
0.00015
|
|
NM_080860.4(RSPH1):c.714T>C (p.Ala238=)
|
rs141840867
|
0.00015
|
|
NM_080860.4(RSPH1):c.774C>T (p.Phe258=)
|
rs144996547
|
0.00015
|
|
NM_080860.4(RSPH1):c.93C>T (p.His31=)
|
rs370387704
|
0.00015
|
|
NM_145038.5(DRC1):c.1974C>G (p.Asp658Glu)
|
rs140913454
|
0.00015
|
|
NM_152732.5(RSPH9):c.327C>T (p.Tyr109=)
|
rs140285713
|
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_178452.6(DNAAF1):c.863+13A>G
|
rs112775337
|
0.00015
|
|
NM_181426.2(CCDC39):c.1885C>T (p.Arg629Cys)
|
rs199526690
|
0.00015
|
|
NM_001010892.3(RSPH4A):c.1286A>G (p.Tyr429Cys)
|
rs140079844
|
0.00014
|
|
NM_001010892.3(RSPH4A):c.1708G>C (p.Glu570Gln)
|
rs147003118
|
0.00014
|
|
NM_001034853.2(RPGR):c.1176G>C (p.Pro392=)
|
rs149742786
|
0.00014
|
|
NM_001206927.2(DNAH8):c.10141-19T>C
|
rs371850116
|
0.00014
|
|
NM_001206927.2(DNAH8):c.11851A>G (p.Thr3951Ala)
|
rs140937135
|
0.00014
|
|
NM_001206927.2(DNAH8):c.11913A>G (p.Glu3971=)
|
rs149690655
|
0.00014
|
|
NM_001206927.2(DNAH8):c.1963-17T>A
|
rs543682150
|
0.00014
|
|
NM_001206927.2(DNAH8):c.2159A>T (p.Asp720Val)
|
rs138373981
|
0.00014
|
|
NM_001206927.2(DNAH8):c.9087G>A (p.Ser3029=)
|
rs201691475
|
0.00014
|
|
NM_001256715.2(DNAAF3):c.681C>T (p.Pro227=)
|
rs764852012
|
0.00014
|
|
NM_001277115.2(DNAH11):c.2463C>T (p.Ser821=)
|
rs530406993
|
0.00014
|
|
NM_001277115.2(DNAH11):c.3425+5C>G
|
rs776140118
|
0.00014
|
|
NM_001277115.2(DNAH11):c.5625T>C (p.Cys1875=)
|
rs368967707
|
0.00014
|
|
NM_001277115.2(DNAH11):c.5924+12G>T
|
rs376741056
|
0.00014
|
|
NM_001277115.2(DNAH11):c.7267-16C>A
|
rs377203039
|
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.13492-15T>C
|
rs192514899
|
0.00014
|
|
NM_001369.3(DNAH5):c.13775G>A (p.Arg4592Gln)
|
rs367709427
|
0.00014
|
|
NM_001369.3(DNAH5):c.1648G>A (p.Glu550Lys)
|
rs145962029
|
0.00014
|
|
NM_001369.3(DNAH5):c.3315C>A (p.Asn1105Lys)
|
rs144053917
|
0.00014
|
|
NM_001369.3(DNAH5):c.4596+5A>C
|
rs182677317
|
0.00014
|
|
NM_001369.3(DNAH5):c.4797-7A>G
|
rs374917069
|
0.00014
|
|
NM_001369.3(DNAH5):c.6018T>C (p.Cys2006=)
|
rs368456533
|
0.00014
|
|
NM_001369.3(DNAH5):c.6748G>A (p.Glu2250Lys)
|
rs201285946
|
0.00014
|
|
NM_001369.3(DNAH5):c.8871G>T (p.Val2957=)
|
rs374113855
|
0.00014
|
|
NM_012144.4(DNAI1):c.356G>A (p.Arg119Gln)
|
rs141704318
|
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.2196G>A (p.Ser732=)
|
rs374069664
|
0.00014
|
|
NM_017802.4(DNAAF5):c.456C>G (p.Ala152=)
|
rs769656987
|
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.1807-10T>G
|
rs369273325
|
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_023036.6(DNAI2):c.822G>A (p.Ser274=)
|
rs140295057
|
0.00014
|
|
NM_080860.4(RSPH1):c.274+18A>C
|
rs199679087
|
0.00014
|
|
NM_080860.4(RSPH1):c.573+9C>T
|
rs376931534
|
0.00014
|
|
NM_145038.5(DRC1):c.1725G>A (p.Ala575=)
|
rs776929224
|
0.00014
|
|
NM_145038.5(DRC1):c.1913A>C (p.Lys638Thr)
|
rs142671417
|
0.00014
|
|
NM_145038.5(DRC1):c.675T>C (p.Ile225=)
|
rs149032953
|
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.1528-4G>T
|
rs1317352666
|
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_001034853.2(RPGR):c.1709C>T (p.Thr570Met)
|
rs202154504
|
0.00013
|
|
NM_001034853.2(RPGR):c.2220A>G (p.Glu740=)
|
rs149101436
|
0.00013
|
|
NM_001190787.3(MCIDAS):c.301G>T (p.Ala101Ser)
|
rs921264958
|
0.00013
|
|
NM_001206927.2(DNAH8):c.10790+4G>A
|
rs571129029
|
0.00013
|
|
NM_001206927.2(DNAH8):c.12052C>T (p.Arg4018Cys)
|
rs577374411
|
0.00013
|
|
NM_001206927.2(DNAH8):c.12590C>T (p.Thr4197Met)
|
rs146314121
|
0.00013
|
|
NM_001206927.2(DNAH8):c.12678+14C>T
|
rs142844582
|
0.00013
|
|
NM_001206927.2(DNAH8):c.4609C>T (p.Arg1537Cys)
|
rs78877915
|
0.00013
|
|
NM_001206927.2(DNAH8):c.5171G>A (p.Gly1724Asp)
|
rs45461493
|
0.00013
|
|
NM_001206927.2(DNAH8):c.5408T>C (p.Val1803Ala)
|
rs534783808
|
0.00013
|
|
NM_001206927.2(DNAH8):c.5667C>T (p.Ser1889=)
|
rs143295890
|
0.00013
|
|
NM_001206927.2(DNAH8):c.8475A>T (p.Gly2825=)
|
rs181734263
|
0.00013
|
|
NM_001206927.2(DNAH8):c.9194+1G>A
|
rs144711161
|
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.10387G>A (p.Ala3463Thr)
|
rs780346437
|
0.00013
|
|
NM_001277115.2(DNAH11):c.12387+8C>G
|
rs763926047
|
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.4500+12A>G
|
rs376564371
|
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_001277115.2(DNAH11):c.8941-14C>T
|
rs368656321
|
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.192+11T>C
|
rs145770417
|
0.00013
|
|
NM_001369.3(DNAH5):c.2047C>T (p.Arg683Trp)
|
rs182512638
|
0.00013
|
|
NM_001369.3(DNAH5):c.2571G>A (p.Met857Ile)
|
rs199667661
|
0.00013
|
|
NM_001369.3(DNAH5):c.2743+14T>C
|
rs145043911
|
0.00013
|
|
NM_001369.3(DNAH5):c.2891A>T (p.His964Leu)
|
rs199698421
|
0.00013
|
|
NM_001369.3(DNAH5):c.3320A>T (p.Tyr1107Phe)
|
rs367913308
|
0.00013
|
|
NM_001369.3(DNAH5):c.4255T>C (p.Tyr1419His)
|
rs143328219
|
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_001369.3(DNAH5):c.6980C>A (p.Ala2327Glu)
|
rs761092823
|
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.1317+20C>T
|
rs372184999
|
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_018139.3(DNAAF2):c.2007+6G>A
|
rs377255019
|
0.00013
|
|
NM_023036.6(DNAI2):c.1202T>C (p.Met401Thr)
|
rs146769635
|
0.00013
|
|
NM_023036.6(DNAI2):c.1347+13T>G
|
rs534223470
|
0.00013
|
|
NM_080860.4(RSPH1):c.430G>A (p.Gly144Arg)
|
rs201489134
|
0.00013
|
|
NM_080860.4(RSPH1):c.649T>C (p.Leu217=)
|
rs142072750
|
0.00013
|
|
NM_080860.4(RSPH1):c.817G>A (p.Val273Ile)
|
rs374702500
|
0.00013
|
|
NM_145038.5(DRC1):c.1724C>T (p.Ala575Val)
|
rs149284367
|
0.00013
|
|
NM_178452.6(DNAAF1):c.1205A>T (p.Glu402Val)
|
rs144034147
|
0.00013
|
|
NM_178452.6(DNAAF1):c.1529-18C>G
|
rs199720934
|
0.00013
|
|
NM_178452.6(DNAAF1):c.2065+9G>A
|
rs200690810
|
0.00013
|
|
NM_178452.6(DNAAF1):c.2120C>T (p.Pro707Leu)
|
rs757455850
|
0.00013
|
|
NM_178452.6(DNAAF1):c.361C>T (p.Arg121Cys)
|
rs368031148
|
0.00013
|
|
NM_178452.6(DNAAF1):c.393G>T (p.Leu131=)
|
rs569848695
|
0.00013
|
|
NM_178452.6(DNAAF1):c.812G>A (p.Arg271Gln)
|
rs140751779
|
0.00013
|
|
NM_181426.2(CCDC39):c.1229A>G (p.Gln410Arg)
|
rs376852194
|
0.00013
|
|
NM_181426.2(CCDC39):c.1362+13T>C
|
rs369141426
|
0.00013
|
|
NM_181426.2(CCDC39):c.2155T>C (p.Ser719Pro)
|
rs561979601
|
0.00013
|
|
NM_181426.2(CCDC39):c.357+14T>C
|
rs144760207
|
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_000448.3(RAG1):c.2626G>A (p.Glu876Lys)
|
rs145772007
|
0.00012
|
|
NM_001034853.2(RPGR):c.1371G>C (p.Glu457Asp)
|
rs371226433
|
0.00012
|
|
NM_001206927.2(DNAH8):c.11701G>A (p.Ala3901Thr)
|
rs560568324
|
0.00012
|
|
NM_001206927.2(DNAH8):c.12951+7G>A
|
rs565030663
|
0.00012
|
|
NM_001206927.2(DNAH8):c.13417A>C (p.Ile4473Leu)
|
rs200416428
|
0.00012
|
|
NM_001206927.2(DNAH8):c.2409G>A (p.Thr803=)
|
rs150073636
|
0.00012
|
|
NM_001206927.2(DNAH8):c.2665-8G>A
|
rs767746749
|
0.00012
|
|
NM_001206927.2(DNAH8):c.436C>T (p.Pro146Ser)
|
rs753060938
|
0.00012
|
|
NM_001206927.2(DNAH8):c.4513G>A (p.Val1505Ile)
|
rs200202666
|
0.00012
|
|
NM_001206927.2(DNAH8):c.7384G>A (p.Val2462Ile)
|
rs201809379
|
0.00012
|
|
NM_001206927.2(DNAH8):c.8046G>A (p.Met2682Ile)
|
rs145365277
|
0.00012
|
|
NM_001277115.2(DNAH11):c.12057C>T (p.Phe4019=)
|
rs200441507
|
0.00012
|
|
NM_001277115.2(DNAH11):c.2973A>G (p.Ala991=)
|
rs374576335
|
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.3766-15T>C
|
rs760102931
|
0.00012
|
|
NM_001277115.2(DNAH11):c.6621T>A (p.Ala2207=)
|
rs574427839
|
0.00012
|
|
NM_001277115.2(DNAH11):c.7225G>A (p.Ala2409Thr)
|
rs559451610
|
0.00012
|
|
NM_001277115.2(DNAH11):c.8870C>G (p.Ala2957Gly)
|
rs369875222
|
0.00012
|
|
NM_001277115.2(DNAH11):c.9213A>G (p.Pro3071=)
|
rs374831429
|
0.00012
|
|
NM_001369.3(DNAH5):c.104C>T (p.Ala35Val)
|
rs371414060
|
0.00012
|
|
NM_001369.3(DNAH5):c.12279+16C>T
|
rs375853606
|
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_015896.4(ZMYND10):c.721G>A (p.Gly241Ser)
|
rs200577542
|
0.00012
|
|
NM_017802.4(DNAAF5):c.1653T>C (p.Gly551=)
|
rs201112772
|
0.00012
|
|
NM_017950.4(CCDC40):c.*632G>A
|
rs369325014
|
0.00012
|
|
NM_017950.4(CCDC40):c.1076G>A (p.Arg359His)
|
rs373746597
|
0.00012
|
|
NM_017950.4(CCDC40):c.2620-18G>A
|
rs765469292
|
0.00012
|
|
NM_018076.5(ODAD2):c.2630G>A (p.Arg877His)
|
rs376143899
|
0.00012
|
|
NM_023036.6(DNAI2):c.1264G>A (p.Val422Ile)
|
rs201801542
|
0.00012
|
|
NM_080860.4(RSPH1):c.653C>T (p.Ala218Val)
|
rs373119665
|
0.00012
|
|
NM_178452.5(DNAAF1):c.-141G>A
|
rs886052363
|
0.00012
|
|
NM_178452.6(DNAAF1):c.2082C>T (p.Ala694=)
|
rs769877978
|
0.00012
|
|
NM_178452.6(DNAAF1):c.353-18G>A
|
rs201504436
|
0.00012
|
|
NM_181426.2(CCDC39):c.1808T>C (p.Ile603Thr)
|
rs368733987
|
0.00012
|
|
NM_001034853.2(RPGR):c.1415-17C>G
|
rs191692201
|
0.00011
|
|
NM_001190787.3(MCIDAS):c.474G>A (p.Pro158=)
|
rs1001897568
|
0.00011
|
|
NM_001206927.2(DNAH8):c.12974G>A (p.Arg4325Gln)
|
rs368532934
|
0.00011
|
|
NM_001206927.2(DNAH8):c.3480C>T (p.Asp1160=)
|
rs139961123
|
0.00011
|
|
NM_001206927.2(DNAH8):c.3538G>A (p.Ala1180Thr)
|
rs201917454
|
0.00011
|
|
NM_001206927.2(DNAH8):c.5528A>G (p.Asp1843Gly)
|
rs140442435
|
0.00011
|
|
NM_001206927.2(DNAH8):c.5603T>G (p.Val1868Gly)
|
rs201264105
|
0.00011
|
|
NM_001206927.2(DNAH8):c.6142A>G (p.Thr2048Ala)
|
rs772890319
|
0.00011
|
|
NM_001206927.2(DNAH8):c.6255C>T (p.Val2085=)
|
rs199546078
|
0.00011
|
|
NM_001206927.2(DNAH8):c.8801T>C (p.Val2934Ala)
|
rs1031668402
|
0.00011
|
|
NM_001256715.2(DNAAF3):c.1210G>A (p.Gly404Arg)
|
rs202084011
|
0.00011
|
|
NM_001256715.2(DNAAF3):c.891G>A (p.Thr297=)
|
rs565551381
|
0.00011
|
|
NM_001277115.2(DNAH11):c.10386T>C (p.Asp3462=)
|
rs369873392
|
0.00011
|
|
NM_001277115.2(DNAH11):c.1042T>C (p.Cys348Arg)
|
rs371654954
|
0.00011
|
|
NM_001277115.2(DNAH11):c.10569-15C>T
|
rs371205337
|
0.00011
|
|
NM_001277115.2(DNAH11):c.10637C>T (p.Thr3546Met)
|
rs374549012
|
0.00011
|
|
NM_001277115.2(DNAH11):c.10768C>G (p.Pro3590Ala)
|
rs576022231
|
0.00011
|
|
NM_001277115.2(DNAH11):c.10896+18A>G
|
rs371959142
|
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.12901A>G (p.Ile4301Val)
|
rs147608492
|
0.00011
|
|
NM_001277115.2(DNAH11):c.13050-11C>A
|
rs545301825
|
0.00011
|
|
NM_001277115.2(DNAH11):c.13211C>T (p.Thr4404Met)
|
rs768366183
|
0.00011
|
|
NM_001277115.2(DNAH11):c.13243A>C (p.Lys4415Gln)
|
rs372325290
|
0.00011
|
|
NM_001277115.2(DNAH11):c.1915C>T (p.Gln639Ter)
|
rs200073714
|
0.00011
|
|
NM_001277115.2(DNAH11):c.2054G>A (p.Arg685His)
|
rs202234068
|
0.00011
|
|
NM_001277115.2(DNAH11):c.2826G>A (p.Pro942=)
|
rs368794820
|
0.00011
|
|
NM_001277115.2(DNAH11):c.338C>A (p.Ala113Glu)
|
rs772913999
|
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.3648G>A (p.Glu1216=)
|
rs202150841
|
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.6684-7A>G
|
rs183865018
|
0.00011
|
|
NM_001277115.2(DNAH11):c.7134+16C>T
|
rs367821670
|
0.00011
|
|
NM_001277115.2(DNAH11):c.7134+17G>A
|
rs569031640
|
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.1799G>C (p.Gly600Ala)
|
rs200124335
|
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_001364171.2(ODAD1):c.626G>A (p.Ser209Asn)
|
rs367799104
|
0.00011
|
|
NM_001364171.2(ODAD1):c.853+19C>T
|
rs200495728
|
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.11376C>T (p.Ala3792=)
|
rs755149967
|
0.00011
|
|
NM_001369.3(DNAH5):c.11492C>G (p.Thr3831Ser)
|
rs111313832
|
0.00011
|
|
NM_001369.3(DNAH5):c.12189G>A (p.Gly4063=)
|
rs144879072
|
0.00011
|
|
NM_001369.3(DNAH5):c.12546G>A (p.Lys4182=)
|
rs146330391
|
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.13437C>T (p.Cys4479=)
|
rs376510352
|
0.00011
|
|
NM_001369.3(DNAH5):c.13724-17T>G
|
rs201764984
|
0.00011
|
|
NM_001369.3(DNAH5):c.2039C>T (p.Ala680Val)
|
rs374086061
|
0.00011
|
|
NM_001369.3(DNAH5):c.2513C>T (p.Thr838Met)
|
rs375292481
|
0.00011
|
|
NM_001369.3(DNAH5):c.3112G>A (p.Val1038Met)
|
rs146828513
|
0.00011
|
|
NM_001369.3(DNAH5):c.3397-8G>T
|
rs200694593
|
0.00011
|
|
NM_001369.3(DNAH5):c.360T>C (p.Asp120=)
|
rs368412855
|
0.00011
|
|
NM_001369.3(DNAH5):c.4053+13C>T
|
rs543363871
|
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.5265C>T (p.His1755=)
|
rs373540353
|
0.00011
|
|
NM_001369.3(DNAH5):c.5272-7A>G
|
rs766520905
|
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.1019+7A>G
|
rs200720794
|
0.00011
|
|
NM_012144.4(DNAI1):c.175G>A (p.Asp59Asn)
|
rs565990305
|
0.00011
|
|
NM_015896.4(ZMYND10):c.1171C>T (p.Arg391Trp)
|
rs150467144
|
0.00011
|
|
NM_015896.4(ZMYND10):c.1291G>A (p.Val431Ile)
|
rs201258677
|
0.00011
|
|
NM_015896.4(ZMYND10):c.689G>A (p.Arg230Gln)
|
rs146875767
|
0.00011
|
|
NM_016616.5(NME8):c.285C>T (p.Ile95=)
|
rs201295247
|
0.00011
|
|
NM_017802.4(DNAAF5):c.1635A>G (p.Ser545=)
|
rs1342740653
|
0.00011
|
|
NM_017802.4(DNAAF5):c.1813G>A (p.Val605Ile)
|
rs572892623
|
0.00011
|
|
NM_017950.4(CCDC40):c.1057G>A (p.Ala353Thr)
|
rs202123909
|
0.00011
|
|
NM_017950.4(CCDC40):c.1221C>T (p.Ile407=)
|
rs760734578
|
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_017950.4(CCDC40):c.3021+13G>A
|
rs762011731
|
0.00011
|
|
NM_017950.4(CCDC40):c.3348C>T (p.Asp1116=)
|
rs377559639
|
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_018139.3(DNAAF2):c.1781C>T (p.Ala594Val)
|
rs181040532
|
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_031427.4(DNAL1):c.*2600_*2604del
|
rs770668475
|
0.00011
|
|
NM_152732.5(RSPH9):c.288G>A (p.Ser96=)
|
rs368692729
|
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.2065+5G>A
|
rs774606576
|
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.1034+11A>G
|
rs780737889
|
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.357+8T>C
|
rs374226135
|
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_213607.3(DNAAF19):c.182G>A (p.Arg61Gln)
|
rs150876063
|
0.00011
|
|
NM_001034853.2(RPGR):c.1059+363G>A
|
rs1410177435
|
0.00010
|
|
NM_001034853.2(RPGR):c.1163C>T (p.Ala388Val)
|
rs199661899
|
0.00010
|
|
NM_001034853.2(RPGR):c.2342C>T (p.Ala781Val)
|
rs368235489
|
0.00010
|
|
NM_001034853.2(RPGR):c.3402A>C (p.Pro1134=)
|
rs199602213
|
0.00010
|
|
NM_001034853.2(RPGR):c.36T>G (p.Gly12=)
|
rs769123303
|
0.00010
|
|
NM_001206927.2(DNAH8):c.10418C>G (p.Thr3473Ser)
|
rs182442615
|
0.00010
|
|
NM_001206927.2(DNAH8):c.10548C>A (p.Gly3516=)
|
rs200840791
|
0.00010
|
|
NM_001206927.2(DNAH8):c.12835-4T>C
|
rs374498561
|
0.00010
|
|
NM_001206927.2(DNAH8):c.13904T>C (p.Met4635Thr)
|
rs372017066
|
0.00010
|
|
NM_001206927.2(DNAH8):c.2960C>A (p.Ala987Asp)
|
rs148508759
|
0.00010
|
|
NM_001206927.2(DNAH8):c.3731C>T (p.Ala1244Val)
|
rs898719487
|
0.00010
|
|
NM_001206927.2(DNAH8):c.4845+9G>A
|
rs373670534
|
0.00010
|
|
NM_001206927.2(DNAH8):c.6328T>C (p.Ser2110Pro)
|
rs201462063
|
0.00010
|
|
NM_001206927.2(DNAH8):c.6847C>T (p.Leu2283=)
|
rs200508313
|
0.00010
|
|
NM_001206927.2(DNAH8):c.7068G>T (p.Thr2356=)
|
rs760793116
|
0.00010
|
|
NM_001206927.2(DNAH8):c.7346G>T (p.Arg2449Leu)
|
rs149449115
|
0.00010
|
|
NM_001206927.2(DNAH8):c.7919C>T (p.Pro2640Leu)
|
rs369613804
|
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.11678C>T (p.Thr3893Met)
|
rs763843747
|
0.00010
|
|
NM_001277115.2(DNAH11):c.12796T>A (p.Phe4266Ile)
|
rs186358036
|
0.00010
|
|
NM_001277115.2(DNAH11):c.13482C>T (p.Phe4494=)
|
rs370038827
|
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.773T>C (p.Ile258Thr)
|
rs771437656
|
0.00010
|
|
NM_001277115.2(DNAH11):c.8456A>G (p.Asn2819Ser)
|
rs371215793
|
0.00010
|
|
NM_001277115.2(DNAH11):c.9860G>A (p.Arg3287Gln)
|
rs750119982
|
0.00010
|
|
NM_001364171.2(ODAD1):c.1175C>T (p.Ser392Leu)
|
rs201978870
|
0.00010
|
|
NM_001364171.2(ODAD1):c.1240+9C>A
|
rs199702730
|
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.343G>A (p.Val115Met)
|
rs141691604
|
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.7899G>A (p.Glu2633=)
|
rs368050409
|
0.00010
|
|
NM_001369.3(DNAH5):c.8765G>A (p.Arg2922His)
|
rs148539877
|
0.00010
|
|
NM_001369.3(DNAH5):c.9108C>A (p.Val3036=)
|
rs750009811
|
0.00010
|
|
NM_001369.3(DNAH5):c.9626A>G (p.Lys3209Arg)
|
rs201473584
|
0.00010
|
|
NM_003114.5(SPAG1):c.2014C>T (p.Gln672Ter)
|
rs201740530
|
0.00010
|
|
NM_003611.3(OFD1):c.1460G>A (p.Arg487Gln)
|
rs147104722
|
0.00010
|
|
NM_012144.4(DNAI1):c.48+3A>G
|
rs771238788
|
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_015896.4(ZMYND10):c.85T>C (p.Ser29Pro)
|
rs587621539
|
0.00010
|
|
NM_017802.4(DNAAF5):c.1249G>A (p.Val417Ile)
|
rs145938269
|
0.00010
|
|
NM_017802.4(DNAAF5):c.1588G>A (p.Ala530Thr)
|
rs200272840
|
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.2490C>T (p.Ala830=)
|
rs774657675
|
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.2584C>T (p.Arg862Trp)
|
rs201858385
|
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_017950.4(CCDC40):c.666G>A (p.Ser222=)
|
rs199671771
|
0.00010
|
|
NM_017950.4(CCDC40):c.696C>T (p.Pro232=)
|
rs200710012
|
0.00010
|
|
NM_017950.4(CCDC40):c.966C>T (p.Ala322=)
|
rs369089505
|
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_023036.6(DNAI2):c.196C>T (p.Arg66Trp)
|
rs371226659
|
0.00010
|
|
NM_080860.4(RSPH1):c.11T>G (p.Leu4Arg)
|
rs144240955
|
0.00010
|
|
NM_080860.4(RSPH1):c.471C>G (p.His157Gln)
|
rs61758127
|
0.00010
|
|
NM_145038.5(DRC1):c.1390C>T (p.Arg464Cys)
|
rs377330459
|
0.00010
|
|
NM_145038.5(DRC1):c.1397-11C>T
|
rs765043642
|
0.00010
|
|
NM_145038.5(DRC1):c.2166+7G>A
|
rs138078589
|
0.00010
|
|
NM_152732.5(RSPH9):c.415C>T (p.Arg139Cys)
|
rs368519003
|
0.00010
|
|
NM_178452.6(DNAAF1):c.1173G>A (p.Pro391=)
|
rs370819090
|
0.00010
|
|
NM_178452.6(DNAAF1):c.1626G>A (p.Lys542=)
|
rs149711368
|
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_181426.2(CCDC39):c.641G>A (p.Arg214His)
|
rs368553676
|
0.00010
|
|
NM_181426.2(CCDC39):c.7A>G (p.Ser3Gly)
|
rs757699907
|
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_001034853.2(RPGR):c.1282C>G (p.Leu428Val)
|
rs182345461
|
0.00009
|
|
NM_001034853.2(RPGR):c.2465G>A (p.Gly822Glu)
|
rs763051284
|
0.00009
|
|
NM_001034853.2(RPGR):c.2841G>A (p.Glu947=)
|
rs868064994
|
0.00009
|
|
NM_001190787.3(MCIDAS):c.219C>G (p.Ala73=)
|
rs770934368
|
0.00009
|
|
NM_001206927.2(DNAH8):c.10500C>A (p.Ile3500=)
|
rs202065447
|
0.00009
|
|
NM_001206927.2(DNAH8):c.1082A>C (p.Glu361Ala)
|
rs376791268
|
0.00009
|
|
NM_001206927.2(DNAH8):c.1110C>T (p.Ile370=)
|
rs200423630
|
0.00009
|
|
NM_001206927.2(DNAH8):c.1163G>T (p.Gly388Val)
|
rs141326848
|
0.00009
|
|
NM_001206927.2(DNAH8):c.12641C>T (p.Thr4214Met)
|
rs750394180
|
0.00009
|
|
NM_001206927.2(DNAH8):c.12720C>T (p.Arg4240=)
|
rs148559694
|
0.00009
|
|
NM_001206927.2(DNAH8):c.1294-13C>T
|
rs980042927
|
0.00009
|
|
NM_001206927.2(DNAH8):c.13282G>C (p.Gly4428Arg)
|
rs755556134
|
0.00009
|
|
NM_001206927.2(DNAH8):c.13683G>A (p.Val4561=)
|
rs201274048
|
0.00009
|
|
NM_001206927.2(DNAH8):c.13790A>G (p.Asn4597Ser)
|
rs774818998
|
0.00009
|
|
NM_001206927.2(DNAH8):c.13835G>T (p.Gly4612Val)
|
rs371583300
|
0.00009
|
|
NM_001206927.2(DNAH8):c.13954T>C (p.Phe4652Leu)
|
rs149938578
|
0.00009
|
|
NM_001206927.2(DNAH8):c.2781+7T>G
|
rs377744731
|
0.00009
|
|
NM_001206927.2(DNAH8):c.3129T>A (p.Asp1043Glu)
|
rs573755164
|
0.00009
|
|
NM_001206927.2(DNAH8):c.3392C>A (p.Thr1131Asn)
|
rs145492929
|
0.00009
|
|
NM_001206927.2(DNAH8):c.3571C>G (p.Pro1191Ala)
|
rs150925022
|
0.00009
|
|
NM_001206927.2(DNAH8):c.6434A>G (p.Gln2145Arg)
|
rs780541458
|
0.00009
|
|
NM_001206927.2(DNAH8):c.656T>C (p.Met219Thr)
|
rs761327493
|
0.00009
|
|
NM_001206927.2(DNAH8):c.718C>T (p.Arg240Cys)
|
rs145773185
|
0.00009
|
|
NM_001206927.2(DNAH8):c.7366T>G (p.Cys2456Gly)
|
rs144169004
|
0.00009
|
|
NM_001206927.2(DNAH8):c.762+18C>T
|
rs150392690
|
0.00009
|
|
NM_001206927.2(DNAH8):c.8727C>T (p.Cys2909=)
|
rs745669459
|
0.00009
|
|
NM_001256715.2(DNAAF3):c.480+14G>A
|
rs751887577
|
0.00009
|
|
NM_001256715.2(DNAAF3):c.663+20G>A
|
rs530225472
|
0.00009
|
|
NM_001256715.2(DNAAF3):c.86-64G>A
|
rs543369426
|
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.10449C>T (p.Ala3483=)
|
rs117000348
|
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.11454T>C (p.Ser3818=)
|
rs562908594
|
0.00009
|
|
NM_001277115.2(DNAH11):c.11457C>T (p.Pro3819=)
|
rs201185369
|
0.00009
|
|
NM_001277115.2(DNAH11):c.11498C>T (p.Ala3833Val)
|
rs373626566
|
0.00009
|
|
NM_001277115.2(DNAH11):c.12534A>G (p.Pro4178=)
|
rs752183095
|
0.00009
|
|
NM_001277115.2(DNAH11):c.13162+18G>A
|
rs773661002
|
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.3890T>G (p.Leu1297Trp)
|
rs771747254
|
0.00009
|
|
NM_001277115.2(DNAH11):c.4377+10T>G
|
rs144229693
|
0.00009
|
|
NM_001277115.2(DNAH11):c.4667T>C (p.Ile1556Thr)
|
rs370239008
|
0.00009
|
|
NM_001277115.2(DNAH11):c.4987C>T (p.Leu1663=)
|
rs541180386
|
0.00009
|
|
NM_001277115.2(DNAH11):c.5360T>C (p.Leu1787Ser)
|
rs368039476
|
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.8275T>C (p.Phe2759Leu)
|
rs148656615
|
0.00009
|
|
NM_001277115.2(DNAH11):c.8299G>A (p.Ala2767Thr)
|
rs200628085
|
0.00009
|
|
NM_001277115.2(DNAH11):c.845T>C (p.Met282Thr)
|
rs747087320
|
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_001277115.2(DNAH11):c.932A>G (p.Gln311Arg)
|
rs199579217
|
0.00009
|
|
NM_001277115.2(DNAH11):c.9483+7C>T
|
rs371216414
|
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.10658G>A (p.Arg3553Gln)
|
rs144393366
|
0.00009
|
|
NM_001369.3(DNAH5):c.11512G>A (p.Glu3838Lys)
|
rs190450522
|
0.00009
|
|
NM_001369.3(DNAH5):c.12123A>C (p.Pro4041=)
|
rs149580135
|
0.00009
|
|
NM_001369.3(DNAH5):c.12251G>A (p.Arg4084Gln)
|
rs140832239
|
0.00009
|
|
NM_001369.3(DNAH5):c.12272T>C (p.Met4091Thr)
|
rs142570731
|
0.00009
|
|
NM_001369.3(DNAH5):c.12279+19C>G
|
rs374864382
|
0.00009
|
|
NM_001369.3(DNAH5):c.12413T>G (p.Phe4138Cys)
|
rs757393675
|
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.1434A>G (p.Arg478=)
|
rs140693210
|
0.00009
|
|
NM_001369.3(DNAH5):c.1959G>A (p.Thr653=)
|
rs141736046
|
0.00009
|
|
NM_001369.3(DNAH5):c.20G>A (p.Arg7Lys)
|
rs139728564
|
0.00009
|
|
NM_001369.3(DNAH5):c.2203G>C (p.Ala735Pro)
|
rs150793327
|
0.00009
|
|
NM_001369.3(DNAH5):c.2235C>T (p.Tyr745=)
|
rs139916610
|
0.00009
|
|
NM_001369.3(DNAH5):c.3656G>A (p.Arg1219His)
|
rs73055857
|
0.00009
|
|
NM_001369.3(DNAH5):c.3835-15C>G
|
rs201231390
|
0.00009
|
|
NM_001369.3(DNAH5):c.393C>T (p.Ile131=)
|
rs202190908
|
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.633G>A (p.Ser211=)
|
rs151075351
|
0.00009
|
|
NM_001369.3(DNAH5):c.6407C>T (p.Thr2136Met)
|
rs140690090
|
0.00009
|
|
NM_001369.3(DNAH5):c.6970A>G (p.Thr2324Ala)
|
rs143074036
|
0.00009
|
|
NM_001369.3(DNAH5):c.7888-20A>T
|
rs756960542
|
0.00009
|
|
NM_001369.3(DNAH5):c.8828G>A (p.Arg2943His)
|
rs184758570
|
0.00009
|
|
NM_001372.4(DNAH9):c.13364A>G (p.Gln4455Arg)
|
rs200749236
|
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_012144.4(DNAI1):c.672A>G (p.Thr224=)
|
rs201101182
|
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_015896.4(ZMYND10):c.1115C>T (p.Ala372Val)
|
rs147472327
|
0.00009
|
|
NM_015896.4(ZMYND10):c.588C>T (p.Asp196=)
|
rs767001214
|
0.00009
|
|
NM_015896.4(ZMYND10):c.999+7A>T
|
rs188791547
|
0.00009
|
|
NM_017802.4(DNAAF5):c.1031G>A (p.Arg344His)
|
rs200002909
|
0.00009
|
|
NM_017802.4(DNAAF5):c.150G>T (p.Leu50Phe)
|
rs1006499632
|
0.00009
|
|
NM_017802.4(DNAAF5):c.1547G>A (p.Ser516Asn)
|
rs371695032
|
0.00009
|
|
NM_017802.4(DNAAF5):c.2334C>T (p.Asn778=)
|
rs544376163
|
0.00009
|
|
NM_017802.4(DNAAF5):c.247C>T (p.Arg83Cys)
|
rs1368397849
|
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_017802.4(DNAAF5):c.595+13G>A
|
rs1462803228
|
0.00009
|
|
NM_017802.4(DNAAF5):c.595+18C>T
|
rs886038637
|
0.00009
|
|
NM_017950.4(CCDC40):c.1146G>C (p.Glu382Asp)
|
rs1263317319
|
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.1563-15G>A
|
rs752972291
|
0.00009
|
|
NM_017950.4(CCDC40):c.2235+15A>G
|
rs566067180
|
0.00009
|
|
NM_017950.4(CCDC40):c.29+11C>G
|
rs769092437
|
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.1485A>G (p.Val495=)
|
rs200587166
|
0.00009
|
|
NM_023036.6(DNAI2):c.1698C>T (p.Asp566=)
|
rs142710343
|
0.00009
|
|
NM_023036.6(DNAI2):c.231C>T (p.Val77=)
|
rs370352545
|
0.00009
|
|
NM_023036.6(DNAI2):c.658G>A (p.Val220Met)
|
rs376885226
|
0.00009
|
|
NM_023036.6(DNAI2):c.691G>A (p.Val231Ile)
|
rs767996853
|
0.00009
|
|
NM_023036.6(DNAI2):c.987+17G>T
|
rs747980486
|
0.00009
|
|
NM_080860.4(RSPH1):c.447G>A (p.Thr149=)
|
rs200870072
|
0.00009
|
|
NM_080860.4(RSPH1):c.559C>T (p.Arg187Cys)
|
rs150576105
|
0.00009
|
|
NM_145038.5(DRC1):c.1868A>G (p.Asn623Ser)
|
rs573043964
|
0.00009
|
|
NM_145038.5(DRC1):c.2069T>C (p.Val690Ala)
|
rs199858918
|
0.00009
|
|
NM_145038.5(DRC1):c.617G>A (p.Arg206Gln)
|
rs141540461
|
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.609+15G>T
|
rs186993887
|
0.00009
|
|
NM_181426.2(CCDC39):c.610-2A>G
|
rs756235547
|
0.00009
|
|
NM_213607.3(DNAAF19):c.355C>T (p.Arg119Cys)
|
rs755188855
|
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_001010892.3(RSPH4A):c.651C>T (p.Tyr217=)
|
rs140811116
|
0.00008
|
|
NM_001034853.2(RPGR):c.1098T>C (p.Ala366=)
|
rs369391462
|
0.00008
|
|
NM_001034853.2(RPGR):c.1414+9T>C
|
rs373778022
|
0.00008
|
|
NM_001034853.2(RPGR):c.2343G>A (p.Ala781=)
|
rs139643783
|
0.00008
|
|
NM_001034853.2(RPGR):c.2943G>C (p.Gly981=)
|
rs1410538281
|
0.00008
|
|
NM_001190787.3(MCIDAS):c.144C>T (p.Phe48=)
|
rs1014552272
|
0.00008
|
|
NM_001190787.3(MCIDAS):c.24G>A (p.Ala8=)
|
rs1005463713
|
0.00008
|
|
NM_001206927.2(DNAH8):c.12697A>T (p.Asn4233Tyr)
|
rs368787070
|
0.00008
|
|
NM_001206927.2(DNAH8):c.142T>C (p.Ser48Pro)
|
rs776744908
|
0.00008
|
|
NM_001206927.2(DNAH8):c.2285C>T (p.Pro762Leu)
|
rs199804814
|
0.00008
|
|
NM_001206927.2(DNAH8):c.2286G>A (p.Pro762=)
|
rs141715565
|
0.00008
|
|
NM_001206927.2(DNAH8):c.2946G>A (p.Lys982=)
|
rs146331687
|
0.00008
|
|
NM_001206927.2(DNAH8):c.3049G>A (p.Val1017Ile)
|
rs112491228
|
0.00008
|
|
NM_001206927.2(DNAH8):c.3851C>T (p.Pro1284Leu)
|
rs562900966
|
0.00008
|
|
NM_001206927.2(DNAH8):c.4866T>A (p.Ile1622=)
|
rs371132948
|
0.00008
|
|
NM_001206927.2(DNAH8):c.5224G>A (p.Asp1742Asn)
|
rs199737918
|
0.00008
|
|
NM_001206927.2(DNAH8):c.6131+1G>A
|
rs145974361
|
0.00008
|
|
NM_001206927.2(DNAH8):c.7081G>T (p.Ala2361Ser)
|
rs375336311
|
0.00008
|
|
NM_001206927.2(DNAH8):c.7858+20C>A
|
rs183425377
|
0.00008
|
|
NM_001206927.2(DNAH8):c.8505T>C (p.Cys2835=)
|
rs145125117
|
0.00008
|
|
NM_001206927.2(DNAH8):c.8976G>C (p.Gln2992His)
|
rs575113985
|
0.00008
|
|
NM_001206927.2(DNAH8):c.9025C>A (p.Leu3009Met)
|
rs199779645
|
0.00008
|
|
NM_001256715.2(DNAAF3):c.-81G>A
|
rs201101258
|
0.00008
|
|
NM_001256715.2(DNAAF3):c.419T>C (p.Leu140Pro)
|
rs747667670
|
0.00008
|
|
NM_001256715.2(DNAAF3):c.912+13G>C
|
rs937742394
|
0.00008
|
|
NM_001277115.2(DNAH11):c.10618A>G (p.Ile3540Val)
|
rs772102831
|
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.11506G>A (p.Val3836Ile)
|
rs767109418
|
0.00008
|
|
NM_001277115.2(DNAH11):c.11839+8G>C
|
rs752147670
|
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.1849-11T>C
|
rs535218404
|
0.00008
|
|
NM_001277115.2(DNAH11):c.2202T>C (p.Leu734=)
|
rs573185810
|
0.00008
|
|
NM_001277115.2(DNAH11):c.2668-5T>C
|
rs72655999
|
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.4012-8G>A
|
rs374349753
|
0.00008
|
|
NM_001277115.2(DNAH11):c.5144G>A (p.Arg1715His)
|
rs763926220
|
0.00008
|
|
NM_001277115.2(DNAH11):c.5446C>A (p.Leu1816Ile)
|
rs112892548
|
0.00008
|
|
NM_001277115.2(DNAH11):c.6412G>A (p.Val2138Ile)
|
rs764043342
|
0.00008
|
|
NM_001277115.2(DNAH11):c.6727C>T (p.Arg2243Ter)
|
rs201943194
|
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_001277115.2(DNAH11):c.9017C>T (p.Thr3006Met)
|
rs537395849
|
0.00008
|
|
NM_001364171.2(ODAD1):c.200G>A (p.Arg67Gln)
|
rs964846657
|
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.3776C>T (p.Ala1259Val)
|
rs532394572
|
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.56C>T (p.Thr19Met)
|
rs757712771
|
0.00008
|
|
NM_001369.3(DNAH5):c.5848A>G (p.Thr1950Ala)
|
rs368863709
|
0.00008
|
|
NM_001369.3(DNAH5):c.625G>A (p.Val209Ile)
|
rs149833711
|
0.00008
|
|
NM_001369.3(DNAH5):c.6813C>T (p.Cys2271=)
|
rs373542336
|
0.00008
|
|
NM_001369.3(DNAH5):c.7867A>G (p.Thr2623Ala)
|
rs371099382
|
0.00008
|
|
NM_001369.3(DNAH5):c.7888-4A>G
|
rs775268409
|
0.00008
|
|
NM_001369.3(DNAH5):c.8382A>G (p.Leu2794=)
|
rs371252551
|
0.00008
|
|
NM_001369.3(DNAH5):c.946C>T (p.Leu316Phe)
|
rs201706790
|
0.00008
|
|
NM_001369.3(DNAH5):c.9816C>T (p.Ser3272=)
|
rs749710045
|
0.00008
|
|
NM_001369.3(DNAH5):c.982C>T (p.Arg328Trp)
|
rs577433265
|
0.00008
|
|
NM_001369.3(DNAH5):c.9911C>T (p.Ser3304Leu)
|
rs139821753
|
0.00008
|
|
NM_001369.3(DNAH5):c.9919G>A (p.Ala3307Thr)
|
rs757212818
|
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_012144.4(DNAI1):c.262-10C>G
|
rs371157271
|
0.00008
|
|
NM_012144.4(DNAI1):c.682-15C>G
|
rs199865010
|
0.00008
|
|
NM_012472.6(DNAAF11):c.186T>C (p.Val62=)
|
rs112144537
|
0.00008
|
|
NM_015896.4(ZMYND10):c.831G>A (p.Ala277=)
|
rs587594668
|
0.00008
|
|
NM_017802.4(DNAAF5):c.2142G>A (p.Ser714=)
|
rs113450580
|
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.1806+15G>A
|
rs767093580
|
0.00008
|
|
NM_017950.4(CCDC40):c.2292C>T (p.Asp764=)
|
rs758047721
|
0.00008
|
|
NM_017950.4(CCDC40):c.2325G>A (p.Val775=)
|
rs1483877024
|
0.00008
|
|
NM_017950.4(CCDC40):c.28C>G (p.Arg10Gly)
|
rs377599647
|
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_017950.4(CCDC40):c.855+10C>T
|
rs376261068
|
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.416A>G (p.Tyr139Cys)
|
rs761527467
|
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_021147.5(CCNO):c.206A>G (p.Asp69Gly)
|
rs372247606
|
0.00008
|
|
NM_021147.5(CCNO):c.845T>C (p.Leu282Pro)
|
rs753791521
|
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_145038.5(DRC1):c.1425G>A (p.Ala475=)
|
rs150563278
|
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.1363-13T>A
|
rs546555133
|
0.00008
|
|
NM_181426.2(CCDC39):c.1728C>T (p.His576=)
|
rs376737530
|
0.00008
|
|
NM_181426.2(CCDC39):c.2736G>A (p.Pro912=)
|
rs183889161
|
0.00008
|
|
NM_181426.2(CCDC39):c.818T>C (p.Ile273Thr)
|
rs201125479
|
0.00008
|
|
NM_213607.3(DNAAF19):c.301A>G (p.Thr101Ala)
|
rs924433215
|
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_001010892.3(RSPH4A):c.237A>G (p.Thr79=)
|
rs145831200
|
0.00007
|
|
NM_001010892.3(RSPH4A):c.922-16G>A
|
rs750183884
|
0.00007
|
|
NM_001034853.2(RPGR):c.2385G>C (p.Glu795Asp)
|
rs1229688029
|
0.00007
|
|
NM_001034853.2(RPGR):c.28+19G>T
|
rs751889855
|
0.00007
|
|
NM_001034853.2(RPGR):c.619+6A>G
|
rs760782164
|
0.00007
|
|
NM_001190787.3(MCIDAS):c.1047C>T (p.Ser349=)
|
rs540346120
|
0.00007
|
|
NM_001190787.3(MCIDAS):c.364G>C (p.Val122Leu)
|
rs1051677967
|
0.00007
|
|
NM_001206927.2(DNAH8):c.10903C>T (p.Arg3635Trp)
|
rs149334389
|
0.00007
|
|
NM_001206927.2(DNAH8):c.11902G>A (p.Gly3968Ser)
|
rs533107744
|
0.00007
|
|
NM_001206927.2(DNAH8):c.12416A>G (p.Asn4139Ser)
|
rs775711015
|
0.00007
|
|
NM_001206927.2(DNAH8):c.12721G>A (p.Ala4241Thr)
|
rs369473998
|
0.00007
|
|
NM_001206927.2(DNAH8):c.13371+10G>T
|
rs766324900
|
0.00007
|
|
NM_001206927.2(DNAH8):c.1352T>C (p.Val451Ala)
|
rs200355421
|
0.00007
|
|
NM_001206927.2(DNAH8):c.13941C>A (p.Pro4647=)
|
rs151211156
|
0.00007
|
|
NM_001206927.2(DNAH8):c.13962T>G (p.Ile4654Met)
|
rs200859037
|
0.00007
|
|
NM_001206927.2(DNAH8):c.1618G>T (p.Asp540Tyr)
|
rs1207266323
|
0.00007
|
|
NM_001206927.2(DNAH8):c.2853G>T (p.Leu951=)
|
rs537668252
|
0.00007
|
|
NM_001206927.2(DNAH8):c.3041G>A (p.Arg1014Gln)
|
rs375687323
|
0.00007
|
|
NM_001206927.2(DNAH8):c.3130_3132del (p.Lys1044del)
|
rs763247724
|
0.00007
|
|
NM_001206927.2(DNAH8):c.3289A>G (p.Ile1097Val)
|
rs147941001
|
0.00007
|
|
NM_001206927.2(DNAH8):c.3481G>A (p.Val1161Met)
|
rs201712851
|
0.00007
|
|
NM_001206927.2(DNAH8):c.4374C>T (p.Phe1458=)
|
rs201114881
|
0.00007
|
|
NM_001206927.2(DNAH8):c.47C>T (p.Ala16Val)
|
rs754105184
|
0.00007
|
|
NM_001206927.2(DNAH8):c.5251C>T (p.Arg1751Ter)
|
rs201568629
|
0.00007
|
|
NM_001206927.2(DNAH8):c.551C>T (p.Ala184Val)
|
rs368460226
|
0.00007
|
|
NM_001206927.2(DNAH8):c.6987G>T (p.Val2329=)
|
rs751705607
|
0.00007
|
|
NM_001206927.2(DNAH8):c.7281C>A (p.Ile2427=)
|
rs544209258
|
0.00007
|
|
NM_001206927.2(DNAH8):c.8160T>C (p.Asp2720=)
|
rs139459495
|
0.00007
|
|
NM_001206927.2(DNAH8):c.8584-18A>G
|
rs755504939
|
0.00007
|
|
NM_001206927.2(DNAH8):c.8870G>A (p.Arg2957His)
|
rs763438877
|
0.00007
|
|
NM_001206927.2(DNAH8):c.8880A>T (p.Pro2960=)
|
rs774972147
|
0.00007
|
|
NM_001206927.2(DNAH8):c.9368G>A (p.Arg3123Gln)
|
rs146541069
|
0.00007
|
|
NM_001206927.2(DNAH8):c.9972A>C (p.Ala3324=)
|
rs755263773
|
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_001256715.2(DNAAF3):c.789+5G>A
|
rs376485677
|
0.00007
|
|
NM_001277115.2(DNAH11):c.*181C>T
|
rs886062191
|
0.00007
|
|
NM_001277115.2(DNAH11):c.10055C>T (p.Thr3352Met)
|
rs369182142
|
0.00007
|
|
NM_001277115.2(DNAH11):c.10125C>G (p.Thr3375=)
|
rs192345130
|
0.00007
|
|
NM_001277115.2(DNAH11):c.10440C>T (p.Thr3480=)
|
rs369013054
|
0.00007
|
|
NM_001277115.2(DNAH11):c.10977G>A (p.Ala3659=)
|
rs778096489
|
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.13304-20C>A
|
rs755459710
|
0.00007
|
|
NM_001277115.2(DNAH11):c.1409G>A (p.Arg470His)
|
rs775108833
|
0.00007
|
|
NM_001277115.2(DNAH11):c.1848G>A (p.Gln616=)
|
rs369146775
|
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.3410G>T (p.Arg1137Ile)
|
rs72657305
|
0.00007
|
|
NM_001277115.2(DNAH11):c.3426-11A>G
|
rs566840808
|
0.00007
|
|
NM_001277115.2(DNAH11):c.3609T>C (p.Tyr1203=)
|
rs371466312
|
0.00007
|
|
NM_001277115.2(DNAH11):c.3635A>G (p.Tyr1212Cys)
|
rs199911435
|
0.00007
|
|
NM_001277115.2(DNAH11):c.3649-14C>G
|
rs750945230
|
0.00007
|
|
NM_001277115.2(DNAH11):c.3778G>A (p.Glu1260Lys)
|
rs368067029
|
0.00007
|
|
NM_001277115.2(DNAH11):c.3843G>A (p.Ala1281=)
|
rs374551688
|
0.00007
|
|
NM_001277115.2(DNAH11):c.3852+16A>G
|
rs72657306
|
0.00007
|
|
NM_001277115.2(DNAH11):c.4230G>T (p.Trp1410Cys)
|
rs367916239
|
0.00007
|
|
NM_001277115.2(DNAH11):c.4377+11C>T
|
rs568498841
|
0.00007
|
|
NM_001277115.2(DNAH11):c.4869A>G (p.Ile1623Met)
|
rs549464041
|
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.6273+14A>G
|
rs142722418
|
0.00007
|
|
NM_001277115.2(DNAH11):c.6662C>T (p.Thr2221Ile)
|
rs373624232
|
0.00007
|
|
NM_001277115.2(DNAH11):c.6921C>A (p.Thr2307=)
|
rs764765425
|
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.8316+4A>C
|
rs779800733
|
0.00007
|
|
NM_001277115.2(DNAH11):c.8316+7G>A
|
rs369837420
|
0.00007
|
|
NM_001277115.2(DNAH11):c.9003C>T (p.Ala3001=)
|
rs192542392
|
0.00007
|
|
NM_001277115.2(DNAH11):c.9102+19C>T
|
rs771704384
|
0.00007
|
|
NM_001277115.2(DNAH11):c.9103-15T>C
|
rs551974653
|
0.00007
|
|
NM_001277115.2(DNAH11):c.9376G>A (p.Glu3126Lys)
|
rs767994393
|
0.00007
|
|
NM_001277115.2(DNAH11):c.9560_9563dup (p.Ala3189fs)
|
rs747442861
|
0.00007
|
|
NM_001364171.2(ODAD1):c.1191T>C (p.Leu397=)
|
rs758310719
|
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.1502+5G>A
|
rs201133219
|
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.666-9C>T
|
rs754039474
|
0.00007
|
|
NM_001364171.2(ODAD1):c.996G>A (p.Glu332=)
|
rs148677470
|
0.00007
|
|
NM_001369.3(DNAH5):c.10022T>C (p.Leu3341Pro)
|
rs200260945
|
0.00007
|
|
NM_001369.3(DNAH5):c.10420-5G>T
|
rs754497052
|
0.00007
|
|
NM_001369.3(DNAH5):c.10646A>G (p.Glu3549Gly)
|
rs758546967
|
0.00007
|
|
NM_001369.3(DNAH5):c.10657C>T (p.Arg3553Trp)
|
rs754263109
|
0.00007
|
|
NM_001369.3(DNAH5):c.10948G>A (p.Glu3650Lys)
|
rs371447360
|
0.00007
|
|
NM_001369.3(DNAH5):c.11289C>T (p.Asn3763=)
|
rs370292064
|
0.00007
|
|
NM_001369.3(DNAH5):c.11570+4C>T
|
rs771601699
|
0.00007
|
|
NM_001369.3(DNAH5):c.11913T>G (p.Ile3971Met)
|
rs147531607
|
0.00007
|
|
NM_001369.3(DNAH5):c.11933C>T (p.Pro3978Leu)
|
rs753473802
|
0.00007
|
|
NM_001369.3(DNAH5):c.11969C>A (p.Ser3990Tyr)
|
rs1000624148
|
0.00007
|
|
NM_001369.3(DNAH5):c.11998A>T (p.Ile4000Phe)
|
rs1490888369
|
0.00007
|
|
NM_001369.3(DNAH5):c.12033+14A>G
|
rs375989215
|
0.00007
|
|
NM_001369.3(DNAH5):c.12217G>A (p.Val4073Met)
|
rs757109346
|
0.00007
|
|
NM_001369.3(DNAH5):c.13038T>A (p.Gly4346=)
|
rs768406077
|
0.00007
|
|
NM_001369.3(DNAH5):c.13410G>A (p.Ser4470=)
|
rs368920785
|
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.13746C>T (p.Tyr4582=)
|
rs369094478
|
0.00007
|
|
NM_001369.3(DNAH5):c.1654C>T (p.Arg552Trp)
|
rs535313247
|
0.00007
|
|
NM_001369.3(DNAH5):c.2481C>T (p.Arg827=)
|
rs777353326
|
0.00007
|
|
NM_001369.3(DNAH5):c.2717G>C (p.Ser906Thr)
|
rs540038644
|
0.00007
|
|
NM_001369.3(DNAH5):c.2732A>G (p.Asn911Ser)
|
rs142386498
|
0.00007
|
|
NM_001369.3(DNAH5):c.3397-16T>C
|
rs570784395
|
0.00007
|
|
NM_001369.3(DNAH5):c.3438C>G (p.His1146Gln)
|
rs779321133
|
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.4502C>T (p.Thr1501Ile)
|
rs368448770
|
0.00007
|
|
NM_001369.3(DNAH5):c.4562A>G (p.Glu1521Gly)
|
rs374248199
|
0.00007
|
|
NM_001369.3(DNAH5):c.477C>T (p.Gly159=)
|
rs897766386
|
0.00007
|
|
NM_001369.3(DNAH5):c.6053T>C (p.Ile2018Thr)
|
rs117989731
|
0.00007
|
|
NM_001369.3(DNAH5):c.7752+3A>G
|
rs200385399
|
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_001369.3(DNAH5):c.8482C>T (p.Arg2828Cys)
|
rs145209155
|
0.00007
|
|
NM_001369.3(DNAH5):c.9619T>C (p.Leu3207=)
|
rs753402995
|
0.00007
|
|
NM_001372.4(DNAH9):c.2965C>T (p.Arg989Trp)
|
rs765666122
|
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.1291C>G (p.His431Asp)
|
rs756877115
|
0.00007
|
|
NM_012144.4(DNAI1):c.1822C>A (p.His608Asn)
|
rs148762102
|
0.00007
|
|
NM_012144.4(DNAI1):c.566C>T (p.Thr189Ile)
|
rs191840487
|
0.00007
|
|
NM_012144.4(DNAI1):c.990C>G (p.Ala330=)
|
rs1172131052
|
0.00007
|
|
NM_015896.4(ZMYND10):c.1116G>A (p.Ala372=)
|
rs143000634
|
0.00007
|
|
NM_015896.4(ZMYND10):c.777C>T (p.Asp259=)
|
rs202147494
|
0.00007
|
|
NM_016616.5(NME8):c.311C>T (p.Pro104Leu)
|
rs567620217
|
0.00007
|
|
NM_017802.4(DNAAF5):c.1450A>G (p.Ile484Val)
|
rs139727224
|
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.2425A>G (p.Ile809Val)
|
rs563633198
|
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.448G>C (p.Gly150Arg)
|
rs1462634117
|
0.00007
|
|
NM_017802.4(DNAAF5):c.642G>T (p.Gln214His)
|
rs374875482
|
0.00007
|
|
NM_017802.4(DNAAF5):c.717C>T (p.Asn239=)
|
rs569560572
|
0.00007
|
|
NM_017802.4(DNAAF5):c.735C>T (p.Asp245=)
|
rs766158599
|
0.00007
|
|
NM_017802.4(DNAAF5):c.780+6T>A
|
rs903588155
|
0.00007
|
|
NM_017802.4(DNAAF5):c.905+19G>A
|
rs772991095
|
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.1441-8G>T
|
rs762319130
|
0.00007
|
|
NM_017950.4(CCDC40):c.1721C>A (p.Thr574Asn)
|
rs202093340
|
0.00007
|
|
NM_017950.4(CCDC40):c.2068G>A (p.Ala690Thr)
|
rs201907038
|
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.1273G>A (p.Ala425Thr)
|
rs764194489
|
0.00007
|
|
NM_018139.3(DNAAF2):c.1401C>T (p.Ser467=)
|
rs368961585
|
0.00007
|
|
NM_018139.3(DNAAF2):c.1719A>G (p.Gln573=)
|
rs370699646
|
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_018139.3(DNAAF2):c.384C>A (p.Gly128=)
|
rs200484042
|
0.00007
|
|
NM_021147.5(CCNO):c.210C>T (p.Gly70=)
|
rs373209105
|
0.00007
|
|
NM_021147.5(CCNO):c.333G>A (p.Ala111=)
|
rs191035273
|
0.00007
|
|
NM_023036.6(DNAI2):c.1251C>T (p.Pro417=)
|
rs139319121
|
0.00007
|
|
NM_023036.6(DNAI2):c.1517G>A (p.Arg506Gln)
|
rs758710603
|
0.00007
|
|
NM_023036.6(DNAI2):c.1663A>G (p.Ile555Val)
|
rs146727740
|
0.00007
|
|
NM_023036.6(DNAI2):c.284G>A (p.Arg95His)
|
rs201521142
|
0.00007
|
|
NM_023036.6(DNAI2):c.610+12C>T
|
rs374447879
|
0.00007
|
|
NM_080860.4(RSPH1):c.128C>A (p.Thr43Asn)
|
rs144221071
|
0.00007
|
|
NM_080860.4(RSPH1):c.151G>A (p.Gly51Ser)
|
rs369657833
|
0.00007
|
|
NM_080860.4(RSPH1):c.310G>A (p.Val104Ile)
|
rs373683028
|
0.00007
|
|
NM_080860.4(RSPH1):c.692C>T (p.Thr231Met)
|
rs778123315
|
0.00007
|
|
NM_080860.4(RSPH1):c.785T>C (p.Met262Thr)
|
rs139390401
|
0.00007
|
|
NM_145038.5(DRC1):c.1358C>G (p.Ser453Cys)
|
rs780100027
|
0.00007
|
|
NM_145038.5(DRC1):c.155+11G>A
|
rs773150423
|
0.00007
|
|
NM_145038.5(DRC1):c.1598C>T (p.Ser533Phe)
|
rs752379921
|
0.00007
|
|
NM_145038.5(DRC1):c.1775C>T (p.Thr592Met)
|
rs144885892
|
0.00007
|
|
NM_145038.5(DRC1):c.1965C>T (p.Asn655=)
|
rs201930229
|
0.00007
|
|
NM_152732.5(RSPH9):c.227+9G>T
|
rs759429967
|
0.00007
|
|
NM_178452.6(DNAAF1):c.1241G>T (p.Gly414Val)
|
rs142105097
|
0.00007
|
|
NM_178452.6(DNAAF1):c.1263G>C (p.Leu421=)
|
rs141248488
|
0.00007
|
|
NM_178452.6(DNAAF1):c.1473G>A (p.Glu491=)
|
rs142870415
|
0.00007
|
|
NM_178452.6(DNAAF1):c.1957G>A (p.Glu653Lys)
|
rs201034372
|
0.00007
|
|
NM_178452.6(DNAAF1):c.2155T>C (p.Phe719Leu)
|
rs201263027
|
0.00007
|
|
NM_178452.6(DNAAF1):c.603G>C (p.Gln201His)
|
rs1169328891
|
0.00007
|
|
NM_178452.6(DNAAF1):c.655T>C (p.Cys219Arg)
|
rs773607269
|
0.00007
|
|
NM_181426.2(CCDC39):c.1176T>C (p.Asp392=)
|
rs749497447
|
0.00007
|
|
NM_181426.2(CCDC39):c.1833G>A (p.Ala611=)
|
rs371164022
|
0.00007
|
|
NM_181426.2(CCDC39):c.2549C>G (p.Thr850Ser)
|
rs201996796
|
0.00007
|
|
NM_181426.2(CCDC39):c.2580T>C (p.Phe860=)
|
rs779797487
|
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
|
|
NM_213607.3(DNAAF19):c.618C>T (p.Ser206=)
|
rs186133494
|
0.00007
|
|
NC_000019.10:g.55166625C>G
|
rs574117710
|
0.00006
|
|
NC_000023.11:g.38269838A>G
|
rs771389612
|
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_001010892.3(RSPH4A):c.921+11A>T
|
rs372639359
|
0.00006
|
|
NM_001034853.2(RPGR):c.1414+18G>C
|
rs370721485
|
0.00006
|
|
NM_001034853.2(RPGR):c.1946A>T (p.Asp649Val)
|
rs367882990
|
0.00006
|
|
NM_001034853.2(RPGR):c.2940G>A (p.Glu980=)
|
rs1242945892
|
0.00006
|
|
NM_001034853.2(RPGR):c.3204G>A (p.Lys1068=)
|
rs766253895
|
0.00006
|
|
NM_001034853.2(RPGR):c.779-16G>T
|
rs767024731
|
0.00006
|
|
NM_001206927.2(DNAH8):c.10685C>T (p.Thr3562Met)
|
rs373914023
|
0.00006
|
|
NM_001206927.2(DNAH8):c.10817C>T (p.Thr3606Met)
|
rs758157645
|
0.00006
|
|
NM_001206927.2(DNAH8):c.11712C>T (p.Arg3904=)
|
rs202182124
|
0.00006
|
|
NM_001206927.2(DNAH8):c.14089C>T (p.Leu4697=)
|
rs560936004
|
0.00006
|
|
NM_001206927.2(DNAH8):c.1716A>T (p.Glu572Asp)
|
rs367805228
|
0.00006
|
|
NM_001206927.2(DNAH8):c.3585G>A (p.Glu1195=)
|
rs368767000
|
0.00006
|
|
NM_001206927.2(DNAH8):c.3740C>T (p.Pro1247Leu)
|
rs564472219
|
0.00006
|
|
NM_001206927.2(DNAH8):c.5542G>A (p.Val1848Ile)
|
rs149016705
|
0.00006
|
|
NM_001206927.2(DNAH8):c.558T>C (p.Asp186=)
|
rs753974910
|
0.00006
|
|
NM_001206927.2(DNAH8):c.5845A>G (p.Ile1949Val)
|
rs182835785
|
0.00006
|
|
NM_001206927.2(DNAH8):c.6131+18_6131+19insA
|
rs747237940
|
0.00006
|
|
NM_001206927.2(DNAH8):c.6156C>G (p.Ala2052=)
|
rs775922041
|
0.00006
|
|
NM_001206927.2(DNAH8):c.6369T>C (p.Pro2123=)
|
rs759664111
|
0.00006
|
|
NM_001206927.2(DNAH8):c.6460G>A (p.Val2154Ile)
|
rs142694922
|
0.00006
|
|
NM_001206927.2(DNAH8):c.6565A>G (p.Met2189Val)
|
rs757665480
|
0.00006
|
|
NM_001206927.2(DNAH8):c.7114A>G (p.Met2372Val)
|
rs769036544
|
0.00006
|
|
NM_001206927.2(DNAH8):c.7728A>G (p.Gly2576=)
|
rs140943630
|
0.00006
|
|
NM_001206927.2(DNAH8):c.8632C>T (p.Arg2878Ter)
|
rs149070832
|
0.00006
|
|
NM_001206927.2(DNAH8):c.8752A>G (p.Ile2918Val)
|
rs148193715
|
0.00006
|
|
NM_001206927.2(DNAH8):c.933A>T (p.Arg311Ser)
|
rs200985360
|
0.00006
|
|
NM_001206927.2(DNAH8):c.952+14T>C
|
rs188837503
|
0.00006
|
|
NM_001256715.2(DNAAF3):c.1330G>A (p.Gly444Arg)
|
rs562819833
|
0.00006
|
|
NM_001256715.2(DNAAF3):c.1389C>A (p.Gly463=)
|
rs374560751
|
0.00006
|
|
NM_001256715.2(DNAAF3):c.162T>A (p.Ser54=)
|
rs372718229
|
0.00006
|
|
NM_001256715.2(DNAAF3):c.229-6T>C
|
rs764819869
|
0.00006
|
|
NM_001256715.2(DNAAF3):c.354G>A (p.Gly118=)
|
rs192924578
|
0.00006
|
|
NM_001256715.2(DNAAF3):c.378G>A (p.Val126=)
|
rs759904558
|
0.00006
|
|
NM_001256715.2(DNAAF3):c.391C>T (p.Arg131Cys)
|
rs770679152
|
0.00006
|
|
NM_001256715.2(DNAAF3):c.471C>T (p.Arg157=)
|
rs561398611
|
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.11016G>A (p.Glu3672=)
|
rs768633390
|
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.11497-16C>G
|
rs552675105
|
0.00006
|
|
NM_001277115.2(DNAH11):c.13069C>A (p.Arg4357=)
|
rs775720394
|
0.00006
|
|
NM_001277115.2(DNAH11):c.13407_13415dup (p.Thr4472_Lys4473insGlnGluThr)
|
rs748080467
|
0.00006
|
|
NM_001277115.2(DNAH11):c.13494C>T (p.Ser4498=)
|
rs368269718
|
0.00006
|
|
NM_001277115.2(DNAH11):c.1502A>G (p.Asn501Ser)
|
rs773705030
|
0.00006
|
|
NM_001277115.2(DNAH11):c.1503T>G (p.Asn501Lys)
|
rs761860177
|
0.00006
|
|
NM_001277115.2(DNAH11):c.1545T>C (p.Cys515=)
|
rs182332147
|
0.00006
|
|
NM_001277115.2(DNAH11):c.1656G>A (p.Gly552=)
|
rs1159150090
|
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.1767C>T (p.Ser589=)
|
rs555285553
|
0.00006
|
|
NM_001277115.2(DNAH11):c.1806G>A (p.Glu602=)
|
rs542636914
|
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.3058G>C (p.Val1020Leu)
|
rs779573927
|
0.00006
|
|
NM_001277115.2(DNAH11):c.3165T>C (p.Tyr1055=)
|
rs551896169
|
0.00006
|
|
NM_001277115.2(DNAH11):c.3425+18T>G
|
rs569042999
|
0.00006
|
|
NM_001277115.2(DNAH11):c.3470T>G (p.Leu1157Arg)
|
rs117830543
|
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.3786A>G (p.Arg1262=)
|
rs756045492
|
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.6664C>G (p.Arg2222Gly)
|
rs773498002
|
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.7292G>T (p.Ser2431Ile)
|
rs185039462
|
0.00006
|
|
NM_001277115.2(DNAH11):c.7417A>G (p.Met2473Val)
|
rs553404548
|
0.00006
|
|
NM_001277115.2(DNAH11):c.7864G>A (p.Ala2622Thr)
|
rs200462132
|
0.00006
|
|
NM_001277115.2(DNAH11):c.8155-8C>T
|
rs747421878
|
0.00006
|
|
NM_001277115.2(DNAH11):c.8822A>G (p.Asp2941Gly)
|
rs749515793
|
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.9463G>A (p.Ala3155Thr)
|
rs752191917
|
0.00006
|
|
NM_001277115.2(DNAH11):c.9487A>G (p.Thr3163Ala)
|
rs373850047
|
0.00006
|
|
NM_001277115.2(DNAH11):c.9663C>T (p.Ala3221=)
|
rs566367592
|
0.00006
|
|
NM_001277115.2(DNAH11):c.991G>A (p.Glu331Lys)
|
rs550602612
|
0.00006
|
|
NM_001364171.2(ODAD1):c.1016A>G (p.Asn339Ser)
|
rs145222993
|
0.00006
|
|
NM_001364171.2(ODAD1):c.1640C>T (p.Ala547Val)
|
rs776156161
|
0.00006
|
|
NM_001364171.2(ODAD1):c.181C>T (p.Arg61Trp)
|
rs767729076
|
0.00006
|
|
NM_001364171.2(ODAD1):c.2117G>A (p.Arg706Gln)
|
rs539314807
|
0.00006
|
|
NM_001364171.2(ODAD1):c.265C>T (p.Arg89Trp)
|
rs547720986
|
0.00006
|
|
NM_001364171.2(ODAD1):c.276C>G (p.Asn92Lys)
|
rs753389945
|
0.00006
|
|
NM_001364171.2(ODAD1):c.298C>T (p.Arg100Trp)
|
rs777461665
|
0.00006
|
|
NM_001364171.2(ODAD1):c.708G>A (p.Ala236=)
|
rs755132968
|
0.00006
|
|
NM_001369.3(DNAH5):c.10035T>C (p.Cys3345=)
|
rs150268680
|
0.00006
|
|
NM_001369.3(DNAH5):c.10281+12A>G
|
rs376314375
|
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.10593T>A (p.Ser3531=)
|
rs200974254
|
0.00006
|
|
NM_001369.3(DNAH5):c.10616G>A (p.Arg3539His)
|
rs769458738
|
0.00006
|
|
NM_001369.3(DNAH5):c.10639C>T (p.Arg3547Trp)
|
rs747041428
|
0.00006
|
|
NM_001369.3(DNAH5):c.10785G>A (p.Thr3595=)
|
rs144055129
|
0.00006
|
|
NM_001369.3(DNAH5):c.11300G>A (p.Arg3767His)
|
rs138838869
|
0.00006
|
|
NM_001369.3(DNAH5):c.1145G>A (p.Ser382Asn)
|
rs768616477
|
0.00006
|
|
NM_001369.3(DNAH5):c.11559T>C (p.Leu3853=)
|
rs774935271
|
0.00006
|
|
NM_001369.3(DNAH5):c.12165C>A (p.Pro4055=)
|
rs138781046
|
0.00006
|
|
NM_001369.3(DNAH5):c.1232A>G (p.Tyr411Cys)
|
rs374339264
|
0.00006
|
|
NM_001369.3(DNAH5):c.12492A>C (p.Thr4164=)
|
rs141935657
|
0.00006
|
|
NM_001369.3(DNAH5):c.13155A>T (p.Pro4385=)
|
rs202103048
|
0.00006
|
|
NM_001369.3(DNAH5):c.13486C>T (p.Arg4496Ter)
|
rs200901816
|
0.00006
|
|
NM_001369.3(DNAH5):c.1433G>A (p.Arg478Gln)
|
rs530562885
|
0.00006
|
|
NM_001369.3(DNAH5):c.1436G>A (p.Arg479His)
|
rs150601733
|
0.00006
|
|
NM_001369.3(DNAH5):c.1638C>A (p.Asp546Glu)
|
rs375037194
|
0.00006
|
|
NM_001369.3(DNAH5):c.192+10G>A
|
rs778696977
|
0.00006
|
|
NM_001369.3(DNAH5):c.251A>G (p.Tyr84Cys)
|
rs780968511
|
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.2861A>C (p.Glu954Ala)
|
rs753696648
|
0.00006
|
|
NM_001369.3(DNAH5):c.2980C>T (p.Arg994Trp)
|
rs560275492
|
0.00006
|
|
NM_001369.3(DNAH5):c.3210G>C (p.Gln1070His)
|
rs372974399
|
0.00006
|
|
NM_001369.3(DNAH5):c.3379A>G (p.Ile1127Val)
|
rs763824667
|
0.00006
|
|
NM_001369.3(DNAH5):c.3895G>T (p.Val1299Phe)
|
rs767853104
|
0.00006
|
|
NM_001369.3(DNAH5):c.4071C>T (p.Ser1357=)
|
rs201264488
|
0.00006
|
|
NM_001369.3(DNAH5):c.5272-4A>T
|
rs569920273
|
0.00006
|
|
NM_001369.3(DNAH5):c.5485-11A>G
|
rs372860402
|
0.00006
|
|
NM_001369.3(DNAH5):c.5617G>A (p.Val1873Ile)
|
rs570589076
|
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.660+9G>A
|
rs762915801
|
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.7452C>A (p.Phe2484Leu)
|
rs561666802
|
0.00006
|
|
NM_001369.3(DNAH5):c.7560G>T (p.Pro2520=)
|
rs762130845
|
0.00006
|
|
NM_001369.3(DNAH5):c.7602G>T (p.Ala2534=)
|
rs770309996
|
0.00006
|
|
NM_001369.3(DNAH5):c.7741A>G (p.Lys2581Glu)
|
rs142302585
|
0.00006
|
|
NM_001369.3(DNAH5):c.8611T>C (p.Phe2871Leu)
|
rs138494768
|
0.00006
|
|
NM_001369.3(DNAH5):c.8956T>C (p.Tyr2986His)
|
rs369931315
|
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.1371C>T (p.Asp457=)
|
rs113249236
|
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.2033C>T (p.Pro678Leu)
|
rs759171136
|
0.00006
|
|
NM_012144.4(DNAI1):c.341A>G (p.Asp114Gly)
|
rs147909279
|
0.00006
|
|
NM_012144.4(DNAI1):c.358C>T (p.Arg120Trp)
|
rs766328772
|
0.00006
|
|
NM_012144.4(DNAI1):c.432C>T (p.Leu144=)
|
rs758652167
|
0.00006
|
|
NM_012144.4(DNAI1):c.658A>G (p.Asn220Asp)
|
rs201974671
|
0.00006
|
|
NM_012144.4(DNAI1):c.816+8G>A
|
rs367872627
|
0.00006
|
|
NM_015512.5(DNAH1):c.10976A>G (p.Asn3659Ser)
|
rs376694884
|
0.00006
|
|
NM_015512.5(DNAH1):c.6293G>A (p.Arg2098His)
|
rs373906923
|
0.00006
|
|
NM_015896.4(ZMYND10):c.485G>A (p.Gly162Glu)
|
rs141261384
|
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.1258-7C>A
|
rs1181940614
|
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.2239+8A>G
|
rs202087864
|
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.516C>G (p.Arg172=)
|
rs1338399884
|
0.00006
|
|
NM_017802.4(DNAAF5):c.534C>G (p.Pro178=)
|
rs543234628
|
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.1160-10C>T
|
rs757777653
|
0.00006
|
|
NM_017950.4(CCDC40):c.1372G>A (p.Ala458Thr)
|
rs372976809
|
0.00006
|
|
NM_017950.4(CCDC40):c.1562+12C>T
|
rs369729537
|
0.00006
|
|
NM_017950.4(CCDC40):c.1883C>T (p.Thr628Met)
|
rs376363442
|
0.00006
|
|
NM_017950.4(CCDC40):c.1990-6A>G
|
rs1055042616
|
0.00006
|
|
NM_017950.4(CCDC40):c.2449+19G>A
|
rs537011469
|
0.00006
|
|
NM_017950.4(CCDC40):c.2609G>A (p.Arg870His)
|
rs373717036
|
0.00006
|
|
NM_017950.4(CCDC40):c.2616G>A (p.Leu872=)
|
rs372369514
|
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.39G>A (p.Pro13=)
|
rs777639251
|
0.00006
|
|
NM_017950.4(CCDC40):c.489C>T (p.His163=)
|
rs372917306
|
0.00006
|
|
NM_017950.4(CCDC40):c.636C>T (p.Ile212=)
|
rs754379326
|
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.1053G>C (p.Pro351=)
|
rs780614468
|
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_018139.3(DNAAF2):c.827C>G (p.Pro276Arg)
|
rs562712293
|
0.00006
|
|
NM_023036.6(DNAI2):c.115G>A (p.Glu39Lys)
|
rs148885547
|
0.00006
|
|
NM_023036.6(DNAI2):c.1194G>A (p.Ser398=)
|
rs556547267
|
0.00006
|
|
NM_023036.6(DNAI2):c.1495-4C>A
|
rs765760420
|
0.00006
|
|
NM_023036.6(DNAI2):c.1712C>T (p.Thr571Met)
|
rs373090022
|
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_023036.6(DNAI2):c.522C>T (p.Gly174=)
|
rs557724360
|
0.00006
|
|
NM_080860.4(RSPH1):c.150C>A (p.Phe50Leu)
|
rs752263023
|
0.00006
|
|
NM_080860.4(RSPH1):c.231C>T (p.His77=)
|
rs373561308
|
0.00006
|
|
NM_080860.4(RSPH1):c.390C>T (p.Tyr130=)
|
rs529633380
|
0.00006
|
|
NM_080860.4(RSPH1):c.55-8T>C
|
rs368421971
|
0.00006
|
|
NM_080860.4(RSPH1):c.654C>T (p.Ala218=)
|
rs752858417
|
0.00006
|
|
NM_080860.4(RSPH1):c.713C>T (p.Ala238Val)
|
rs201984262
|
0.00006
|
|
NM_080860.4(RSPH1):c.85G>T (p.Glu29Ter)
|
rs138320978
|
0.00006
|
|
NM_145038.5(DRC1):c.1112C>T (p.Ser371Leu)
|
rs368859380
|
0.00006
|
|
NM_145038.5(DRC1):c.1123C>T (p.Arg375Cys)
|
rs145305515
|
0.00006
|
|
NM_145038.5(DRC1):c.1164-19C>G
|
rs370699771
|
0.00006
|
|
NM_145038.5(DRC1):c.1238T>C (p.Ile413Thr)
|
rs551640350
|
0.00006
|
|
NM_145038.5(DRC1):c.330C>T (p.Val110=)
|
rs146060843
|
0.00006
|
|
NM_145038.5(DRC1):c.679-4G>A
|
rs762632039
|
0.00006
|
|
NM_145038.5(DRC1):c.749C>T (p.Ala250Val)
|
rs138374268
|
0.00006
|
|
NM_152732.5(RSPH9):c.276G>A (p.Met92Ile)
|
rs147713380
|
0.00006
|
|
NM_152732.5(RSPH9):c.2T>C (p.Met1Thr)
|
rs1395940101
|
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.1225G>T (p.Gly409Cys)
|
rs950151051
|
0.00006
|
|
NM_178452.6(DNAAF1):c.141G>C (p.Lys47Asn)
|
rs186287554
|
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.2154A>C (p.Ala718=)
|
rs772963052
|
0.00006
|
|
NM_178452.6(DNAAF1):c.754T>A (p.Leu252Met)
|
rs193152088
|
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_213607.3(DNAAF19):c.619G>A (p.Val207Met)
|
rs140977922
|
0.00006
|
|
NM_213607.3(DNAAF19):c.66T>C (p.Ala22=)
|
rs138770639
|
0.00006
|
|
NM_213607.3(DNAAF19):c.82C>T (p.Arg28Trp)
|
rs144226204
|
0.00006
|
|
NC_000019.10:g.55166633C>G
|
rs774308391
|
0.00005
|
|
NC_000023.11:g.38273484T>C
|
rs375144983
|
0.00005
|
|
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.1395A>C (p.Arg465=)
|
rs530672818
|
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.902A>C (p.Gln301Pro)
|
rs755128358
|
0.00005
|
|
NM_001010892.3(RSPH4A):c.99A>G (p.Gln33=)
|
rs139855630
|
0.00005
|
|
NM_001034853.2(RPGR):c.1245+6A>G
|
rs886038281
|
0.00005
|
|
NM_001034853.2(RPGR):c.1245+7T>C
|
rs201381864
|
0.00005
|
|
NM_001034853.2(RPGR):c.1573-17C>T
|
rs765479363
|
0.00005
|
|
NM_001034853.2(RPGR):c.1630A>G (p.Ser544Gly)
|
rs878853953
|
0.00005
|
|
NM_001034853.2(RPGR):c.1687G>A (p.Val563Met)
|
rs148334278
|
0.00005
|
|
NM_001034853.2(RPGR):c.2417A>G (p.Glu806Gly)
|
rs1364555173
|
0.00005
|
|
NM_001034853.2(RPGR):c.2539G>A (p.Gly847Arg)
|
rs1454586504
|
0.00005
|
|
NM_001034853.2(RPGR):c.2565A>G (p.Glu855=)
|
rs748831947
|
0.00005
|
|
NM_001034853.2(RPGR):c.311-7T>C
|
rs1290428863
|
0.00005
|
|
NM_001034853.2(RPGR):c.415G>A (p.Glu139Lys)
|
rs62638645
|
0.00005
|
|
NM_001034853.2(RPGR):c.865A>G (p.Ile289Val)
|
rs62640587
|
0.00005
|
|
NM_001034853.2(RPGR):c.967C>T (p.Arg323Cys)
|
rs757712647
|
0.00005
|
|
NM_001034853.2(RPGR):c.971A>G (p.His324Arg)
|
rs775245027
|
0.00005
|
|
NM_001190787.3(MCIDAS):c.120+8G>C
|
rs916806016
|
0.00005
|
|
NM_001190787.3(MCIDAS):c.297G>A (p.Leu99=)
|
rs1395692564
|
0.00005
|
|
NM_001190787.3(MCIDAS):c.309+9C>G
|
rs529727203
|
0.00005
|
|
NM_001190787.3(MCIDAS):c.607-12C>T
|
rs749001738
|
0.00005
|
|
NM_001206927.2(DNAH8):c.10525-19C>T
|
rs368554543
|
0.00005
|
|
NM_001206927.2(DNAH8):c.10962+11C>G
|
rs201092987
|
0.00005
|
|
NM_001206927.2(DNAH8):c.10998T>C (p.Asp3666=)
|
rs201841900
|
0.00005
|
|
NM_001206927.2(DNAH8):c.11106A>T (p.Glu3702Asp)
|
rs113496494
|
0.00005
|
|
NM_001206927.2(DNAH8):c.11285G>A (p.Gly3762Asp)
|
rs369468382
|
0.00005
|
|
NM_001206927.2(DNAH8):c.11419A>G (p.Asn3807Asp)
|
rs368737192
|
0.00005
|
|
NM_001206927.2(DNAH8):c.11781C>A (p.Ala3927=)
|
rs777675600
|
0.00005
|
|
NM_001206927.2(DNAH8):c.11862C>T (p.Ile3954=)
|
rs147504887
|
0.00005
|
|
NM_001206927.2(DNAH8):c.12007+1G>T
|
rs372080325
|
0.00005
|
|
NM_001206927.2(DNAH8):c.12373A>G (p.Thr4125Ala)
|
rs376760583
|
0.00005
|
|
NM_001206927.2(DNAH8):c.12958T>C (p.Ser4320Pro)
|
rs765743748
|
0.00005
|
|
NM_001206927.2(DNAH8):c.13083G>A (p.Pro4361=)
|
rs143472136
|
0.00005
|
|
NM_001206927.2(DNAH8):c.13398C>A (p.Gly4466=)
|
rs553120865
|
0.00005
|
|
NM_001206927.2(DNAH8):c.13507A>T (p.Thr4503Ser)
|
rs367599642
|
0.00005
|
|
NM_001206927.2(DNAH8):c.13553A>G (p.Tyr4518Cys)
|
rs373389654
|
0.00005
|
|
NM_001206927.2(DNAH8):c.1417G>A (p.Ala473Thr)
|
rs776772658
|
0.00005
|
|
NM_001206927.2(DNAH8):c.1428A>T (p.Ile476=)
|
rs765464768
|
0.00005
|
|
NM_001206927.2(DNAH8):c.1461C>T (p.His487=)
|
rs543346545
|
0.00005
|
|
NM_001206927.2(DNAH8):c.1681G>C (p.Glu561Gln)
|
rs370590661
|
0.00005
|
|
NM_001206927.2(DNAH8):c.2062T>C (p.Cys688Arg)
|
rs762629034
|
0.00005
|
|
NM_001206927.2(DNAH8):c.2259+6C>T
|
rs769901901
|
0.00005
|
|
NM_001206927.2(DNAH8):c.2305C>T (p.Arg769Cys)
|
rs533818443
|
0.00005
|
|
NM_001206927.2(DNAH8):c.2402A>G (p.Gln801Arg)
|
rs746906348
|
0.00005
|
|
NM_001206927.2(DNAH8):c.3035-4A>G
|
rs185584533
|
0.00005
|
|
NM_001206927.2(DNAH8):c.3377G>A (p.Arg1126His)
|
rs776311330
|
0.00005
|
|
NM_001206927.2(DNAH8):c.3894G>A (p.Met1298Ile)
|
rs571467371
|
0.00005
|
|
NM_001206927.2(DNAH8):c.5210G>A (p.Arg1737His)
|
rs568480936
|
0.00005
|
|
NM_001206927.2(DNAH8):c.5880T>G (p.Asp1960Glu)
|
rs774671297
|
0.00005
|
|
NM_001206927.2(DNAH8):c.6518G>T (p.Arg2173Leu)
|
rs139579198
|
0.00005
|
|
NM_001206927.2(DNAH8):c.6753A>G (p.Gln2251=)
|
rs147059338
|
0.00005
|
|
NM_001206927.2(DNAH8):c.6778G>A (p.Glu2260Lys)
|
rs1018899864
|
0.00005
|
|
NM_001206927.2(DNAH8):c.719G>A (p.Arg240His)
|
rs188018051
|
0.00005
|
|
NM_001206927.2(DNAH8):c.7237+16C>T
|
rs748581206
|
0.00005
|
|
NM_001206927.2(DNAH8):c.732T>A (p.Asp244Glu)
|
rs776721493
|
0.00005
|
|
NM_001206927.2(DNAH8):c.7482A>G (p.Ala2494=)
|
rs375517878
|
0.00005
|
|
NM_001206927.2(DNAH8):c.7584C>T (p.Pro2528=)
|
rs748939836
|
0.00005
|
|
NM_001206927.2(DNAH8):c.8390A>G (p.Asn2797Ser)
|
rs781208495
|
0.00005
|
|
NM_001206927.2(DNAH8):c.8668A>G (p.Ile2890Val)
|
rs373858239
|
0.00005
|
|
NM_001206927.2(DNAH8):c.8721C>T (p.His2907=)
|
rs564511128
|
0.00005
|
|
NM_001206927.2(DNAH8):c.890A>T (p.Gln297Leu)
|
rs768764670
|
0.00005
|
|
NM_001206927.2(DNAH8):c.9041A>G (p.Asp3014Gly)
|
rs200370466
|
0.00005
|
|
NM_001206927.2(DNAH8):c.9123C>T (p.Ser3041=)
|
rs761783722
|
0.00005
|
|
NM_001206927.2(DNAH8):c.9963+15A>T
|
rs376789490
|
0.00005
|
|
NM_001256715.2(DNAAF3):c.1393A>G (p.Thr465Ala)
|
rs767754398
|
0.00005
|
|
NM_001256715.2(DNAAF3):c.1422G>A (p.Pro474=)
|
rs755385476
|
0.00005
|
|
NM_001256715.2(DNAAF3):c.1471G>T (p.Glu491Ter)
|
rs756412762
|
0.00005
|
|
NM_001256715.2(DNAAF3):c.333G>A (p.Glu111=)
|
rs901703224
|
0.00005
|
|
NM_001256715.2(DNAAF3):c.387C>G (p.Phe129Leu)
|
rs528126745
|
0.00005
|
|
NM_001256715.2(DNAAF3):c.426C>G (p.Pro142=)
|
rs981566868
|
0.00005
|
|
NM_001256715.2(DNAAF3):c.664-9C>T
|
rs763786288
|
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.10771C>T (p.His3591Tyr)
|
rs140117045
|
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.10983G>A (p.Glu3661=)
|
rs374881190
|
0.00005
|
|
NM_001277115.2(DNAH11):c.11098G>C (p.Glu3700Gln)
|
rs768652615
|
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.11690+13G>T
|
rs375068037
|
0.00005
|
|
NM_001277115.2(DNAH11):c.12475G>C (p.Val4159Leu)
|
rs771944678
|
0.00005
|
|
NM_001277115.2(DNAH11):c.12553T>C (p.Tyr4185His)
|
rs570869472
|
0.00005
|
|
NM_001277115.2(DNAH11):c.126G>A (p.Glu42=)
|
rs748250611
|
0.00005
|
|
NM_001277115.2(DNAH11):c.12835A>G (p.Ser4279Gly)
|
rs776379830
|
0.00005
|
|
NM_001277115.2(DNAH11):c.13165A>G (p.Ile4389Val)
|
rs763695891
|
0.00005
|
|
NM_001277115.2(DNAH11):c.13170G>A (p.Met4390Ile)
|
rs1377334146
|
0.00005
|
|
NM_001277115.2(DNAH11):c.13262C>T (p.Pro4421Leu)
|
rs780579730
|
0.00005
|
|
NM_001277115.2(DNAH11):c.13373C>T (p.Pro4458Leu)
|
rs72658835
|
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.2043A>G (p.Gln681=)
|
rs375927648
|
0.00005
|
|
NM_001277115.2(DNAH11):c.2050A>T (p.Ser684Cys)
|
rs367670668
|
0.00005
|
|
NM_001277115.2(DNAH11):c.2127C>A (p.Phe709Leu)
|
rs746839370
|
0.00005
|
|
NM_001277115.2(DNAH11):c.2213A>G (p.Lys738Arg)
|
rs779965664
|
0.00005
|
|
NM_001277115.2(DNAH11):c.2412A>G (p.Thr804=)
|
rs564401238
|
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.2772G>A (p.Met924Ile)
|
rs766050153
|
0.00005
|
|
NM_001277115.2(DNAH11):c.2811A>G (p.Gln937=)
|
rs375017028
|
0.00005
|
|
NM_001277115.2(DNAH11):c.2909A>G (p.Tyr970Cys)
|
rs200258739
|
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.3739A>C (p.Ile1247Leu)
|
rs569089902
|
0.00005
|
|
NM_001277115.2(DNAH11):c.3842C>T (p.Ala1281Val)
|
rs770365463
|
0.00005
|
|
NM_001277115.2(DNAH11):c.4159G>A (p.Val1387Ile)
|
rs140876382
|
0.00005
|
|
NM_001277115.2(DNAH11):c.4254+15T>C
|
rs970816477
|
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.4890C>T (p.Phe1630=)
|
rs569494115
|
0.00005
|
|
NM_001277115.2(DNAH11):c.4964A>G (p.Lys1655Arg)
|
rs371049362
|
0.00005
|
|
NM_001277115.2(DNAH11):c.507A>G (p.Pro169=)
|
rs538647052
|
0.00005
|
|
NM_001277115.2(DNAH11):c.5147A>G (p.His1716Arg)
|
rs74760422
|
0.00005
|
|
NM_001277115.2(DNAH11):c.5221G>T (p.Val1741Phe)
|
rs369261673
|
0.00005
|
|
NM_001277115.2(DNAH11):c.5295C>T (p.Tyr1765=)
|
rs377687532
|
0.00005
|
|
NM_001277115.2(DNAH11):c.5622-7C>A
|
rs727503901
|
0.00005
|
|
NM_001277115.2(DNAH11):c.5787C>T (p.Gly1929=)
|
rs777060694
|
0.00005
|
|
NM_001277115.2(DNAH11):c.6018G>A (p.Pro2006=)
|
rs368842512
|
0.00005
|
|
NM_001277115.2(DNAH11):c.6041+13C>T
|
rs559227251
|
0.00005
|
|
NM_001277115.2(DNAH11):c.6351C>T (p.Val2117=)
|
rs535218781
|
0.00005
|
|
NM_001277115.2(DNAH11):c.6383G>A (p.Arg2128Gln)
|
rs544234928
|
0.00005
|
|
NM_001277115.2(DNAH11):c.647C>T (p.Thr216Ile)
|
rs375238384
|
0.00005
|
|
NM_001277115.2(DNAH11):c.6595G>A (p.Val2199Ile)
|
rs368678650
|
0.00005
|
|
NM_001277115.2(DNAH11):c.6607T>C (p.Leu2203=)
|
rs202012891
|
0.00005
|
|
NM_001277115.2(DNAH11):c.663G>T (p.Met221Ile)
|
rs371426283
|
0.00005
|
|
NM_001277115.2(DNAH11):c.6724C>G (p.Leu2242Val)
|
rs549953657
|
0.00005
|
|
NM_001277115.2(DNAH11):c.692+19T>C
|
rs761023886
|
0.00005
|
|
NM_001277115.2(DNAH11):c.6984-8C>T
|
rs774585659
|
0.00005
|
|
NM_001277115.2(DNAH11):c.699G>A (p.Pro233=)
|
rs373971291
|
0.00005
|
|
NM_001277115.2(DNAH11):c.7140A>G (p.Leu2380=)
|
rs750362710
|
0.00005
|
|
NM_001277115.2(DNAH11):c.7800T>C (p.Asp2600=)
|
rs774129338
|
0.00005
|
|
NM_001277115.2(DNAH11):c.7812-12T>C
|
rs770969843
|
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.9039G>A (p.Ala3013=)
|
rs373342289
|
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.9346C>T (p.Leu3116=)
|
rs201171938
|
0.00005
|
|
NM_001277115.2(DNAH11):c.960C>T (p.Asp320=)
|
rs751742591
|
0.00005
|
|
NM_001277115.2(DNAH11):c.9650A>G (p.Asn3217Ser)
|
rs369429781
|
0.00005
|
|
NM_001277115.2(DNAH11):c.9955G>A (p.Ala3319Thr)
|
rs199770001
|
0.00005
|
|
NM_001277115.2(DNAH11):c.998A>G (p.Gln333Arg)
|
rs878854450
|
0.00005
|
|
NM_001277115.2(DNAH11):c.9993T>G (p.Thr3331=)
|
rs747513916
|
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.1143G>A (p.Lys381=)
|
rs753921661
|
0.00005
|
|
NM_001364171.2(ODAD1):c.1543A>G (p.Met515Val)
|
rs149756874
|
0.00005
|
|
NM_001364171.2(ODAD1):c.1662C>T (p.Ser554=)
|
rs771346177
|
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.225C>T (p.Ser75=)
|
rs760732263
|
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.10193G>A (p.Arg3398His)
|
rs201554319
|
0.00005
|
|
NM_001369.3(DNAH5):c.10229C>T (p.Thr3410Met)
|
rs186180802
|
0.00005
|
|
NM_001369.3(DNAH5):c.10437A>G (p.Ala3479=)
|
rs139881808
|
0.00005
|
|
NM_001369.3(DNAH5):c.10472C>T (p.Thr3491Met)
|
rs760010021
|
0.00005
|
|
NM_001369.3(DNAH5):c.1089+1G>A
|
rs574586008
|
0.00005
|
|
NM_001369.3(DNAH5):c.10954G>A (p.Val3652Ile)
|
rs756103727
|
0.00005
|
|
NM_001369.3(DNAH5):c.11529G>T (p.Ser3843=)
|
rs1024441903
|
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.12034-16A>G
|
rs1451554774
|
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.12857G>A (p.Gly4286Glu)
|
rs185104576
|
0.00005
|
|
NM_001369.3(DNAH5):c.1290A>G (p.Glu430=)
|
rs990691780
|
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.13672A>G (p.Lys4558Glu)
|
rs752010216
|
0.00005
|
|
NM_001369.3(DNAH5):c.138C>T (p.Ser46=)
|
rs561555495
|
0.00005
|
|
NM_001369.3(DNAH5):c.1501A>G (p.Ile501Val)
|
rs185103857
|
0.00005
|
|
NM_001369.3(DNAH5):c.1518C>A (p.Asp506Glu)
|
rs757776893
|
0.00005
|
|
NM_001369.3(DNAH5):c.1612G>A (p.Glu538Lys)
|
rs141651575
|
0.00005
|
|
NM_001369.3(DNAH5):c.1693A>G (p.Thr565Ala)
|
rs773275802
|
0.00005
|
|
NM_001369.3(DNAH5):c.1892G>A (p.Arg631His)
|
rs370272258
|
0.00005
|
|
NM_001369.3(DNAH5):c.192+19C>T
|
rs374317093
|
0.00005
|
|
NM_001369.3(DNAH5):c.192+9C>T
|
rs200327229
|
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.2453A>G (p.Asp818Gly)
|
rs1298985586
|
0.00005
|
|
NM_001369.3(DNAH5):c.250T>C (p.Tyr84His)
|
rs1159823492
|
0.00005
|
|
NM_001369.3(DNAH5):c.2983+7A>G
|
rs756339622
|
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.3086A>T (p.Asp1029Val)
|
rs201338727
|
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.3745G>A (p.Asp1249Asn)
|
rs140471516
|
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.4372C>T (p.Arg1458Trp)
|
rs376641196
|
0.00005
|
|
NM_001369.3(DNAH5):c.4436G>T (p.Cys1479Phe)
|
rs369935072
|
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.5198C>T (p.Ser1733Leu)
|
rs146087064
|
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.5706C>A (p.Asp1902Glu)
|
rs377747035
|
0.00005
|
|
NM_001369.3(DNAH5):c.5710T>C (p.Cys1904Arg)
|
rs534290750
|
0.00005
|
|
NM_001369.3(DNAH5):c.5776G>A (p.Glu1926Lys)
|
rs771222700
|
0.00005
|
|
NM_001369.3(DNAH5):c.6249G>A (p.Met2083Ile)
|
rs753614861
|
0.00005
|
|
NM_001369.3(DNAH5):c.6557G>A (p.Arg2186Gln)
|
rs140130296
|
0.00005
|
|
NM_001369.3(DNAH5):c.6590A>G (p.Asp2197Gly)
|
rs766882502
|
0.00005
|
|
NM_001369.3(DNAH5):c.6613A>T (p.Ile2205Phe)
|
rs377490104
|
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.6688-9T>C
|
rs372522358
|
0.00005
|
|
NM_001369.3(DNAH5):c.6779C>T (p.Thr2260Ile)
|
rs370292438
|
0.00005
|
|
NM_001369.3(DNAH5):c.6910C>T (p.Arg2304Trp)
|
rs537125100
|
0.00005
|
|
NM_001369.3(DNAH5):c.713C>T (p.Thr238Met)
|
rs142916957
|
0.00005
|
|
NM_001369.3(DNAH5):c.727C>G (p.Leu243Val)
|
rs761877376
|
0.00005
|
|
NM_001369.3(DNAH5):c.7374C>T (p.Ser2458=)
|
rs1342031986
|
0.00005
|
|
NM_001369.3(DNAH5):c.7556C>T (p.Pro2519Leu)
|
rs374549950
|
0.00005
|
|
NM_001369.3(DNAH5):c.8018A>G (p.Asn2673Ser)
|
rs200591493
|
0.00005
|
|
NM_001369.3(DNAH5):c.8092G>A (p.Val2698Met)
|
rs773466223
|
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.886A>G (p.Lys296Glu)
|
rs545061430
|
0.00005
|
|
NM_001369.3(DNAH5):c.8921G>A (p.Gly2974Asp)
|
rs373899654
|
0.00005
|
|
NM_001369.3(DNAH5):c.9218A>G (p.Tyr3073Cys)
|
rs138505566
|
0.00005
|
|
NM_001369.3(DNAH5):c.9538T>G (p.Ser3180Ala)
|
rs375817990
|
0.00005
|
|
NM_001369.3(DNAH5):c.9718A>G (p.Met3240Val)
|
rs780654245
|
0.00005
|
|
NM_001369.3(DNAH5):c.975+3C>A
|
rs754023963
|
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.1002C>T (p.Ser334=)
|
rs754233819
|
0.00005
|
|
NM_012144.4(DNAI1):c.1064-20C>T
|
rs1571404
|
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.1818+13G>A
|
rs369757755
|
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.256T>C (p.Phe86Leu)
|
rs376483151
|
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_012144.4(DNAI1):c.918C>T (p.Asp306=)
|
rs772207177
|
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_015896.4(ZMYND10):c.1080G>A (p.Val360=)
|
rs766017967
|
0.00005
|
|
NM_015896.4(ZMYND10):c.1163C>T (p.Ala388Val)
|
rs761329132
|
0.00005
|
|
NM_015896.4(ZMYND10):c.155T>G (p.Val52Gly)
|
rs141884144
|
0.00005
|
|
NM_015896.4(ZMYND10):c.92+14G>A
|
rs587667822
|
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.1375G>A (p.Ala459Thr)
|
rs201942359
|
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.179C>T (p.Pro60Leu)
|
rs1238011792
|
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.2491G>A (p.Val831Ile)
|
rs369761475
|
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.732C>T (p.Asp244=)
|
rs751760178
|
0.00005
|
|
NM_017802.4(DNAAF5):c.781-5C>T
|
rs756800404
|
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.1159+9A>G
|
rs754557686
|
0.00005
|
|
NM_017950.4(CCDC40):c.1160-15C>T
|
rs369710741
|
0.00005
|
|
NM_017950.4(CCDC40):c.1317+16G>A
|
rs375999350
|
0.00005
|
|
NM_017950.4(CCDC40):c.1326T>C (p.Tyr442=)
|
rs369063338
|
0.00005
|
|
NM_017950.4(CCDC40):c.1680G>A (p.Thr560=)
|
rs201481334
|
0.00005
|
|
NM_017950.4(CCDC40):c.1806+9G>A
|
rs766278175
|
0.00005
|
|
NM_017950.4(CCDC40):c.1860C>T (p.Gly620=)
|
rs571288423
|
0.00005
|
|
NM_017950.4(CCDC40):c.2374G>C (p.Glu792Gln)
|
rs750185131
|
0.00005
|
|
NM_017950.4(CCDC40):c.274G>A (p.Glu92Lys)
|
rs376842482
|
0.00005
|
|
NM_017950.4(CCDC40):c.2841C>T (p.Leu947=)
|
rs573028412
|
0.00005
|
|
NM_017950.4(CCDC40):c.2842G>A (p.Gly948Arg)
|
rs540350416
|
0.00005
|
|
NM_017950.4(CCDC40):c.3028G>A (p.Asp1010Asn)
|
rs146119288
|
0.00005
|
|
NM_017950.4(CCDC40):c.3250G>A (p.Val1084Met)
|
rs546314844
|
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_017950.4(CCDC40):c.677-18C>T
|
rs369052606
|
0.00005
|
|
NM_017950.4(CCDC40):c.940-7G>A
|
rs727504972
|
0.00005
|
|
NM_017950.4(CCDC40):c.994T>C (p.Tyr332His)
|
rs371604414
|
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_021147.5(CCNO):c.638T>C (p.Leu213Pro)
|
rs775051461
|
0.00005
|
|
NM_021147.5(CCNO):c.688G>A (p.Ala230Thr)
|
rs553351741
|
0.00005
|
|
NM_021147.5(CCNO):c.723G>A (p.Thr241=)
|
rs777719468
|
0.00005
|
|
NM_021147.5(CCNO):c.887G>A (p.Arg296Gln)
|
rs761492748
|
0.00005
|
|
NM_021147.5(CCNO):c.94A>C (p.Ser32Arg)
|
rs373400250
|
0.00005
|
|
NM_023036.6(DNAI2):c.1000A>G (p.Met334Val)
|
rs779742315
|
0.00005
|
|
NM_023036.6(DNAI2):c.1446G>T (p.Ser482=)
|
rs368217836
|
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.1628C>T (p.Ala543Val)
|
rs770547622
|
0.00005
|
|
NM_023036.6(DNAI2):c.531G>T (p.Lys177Asn)
|
rs776667942
|
0.00005
|
|
NM_023036.6(DNAI2):c.865-11C>T
|
rs774483437
|
0.00005
|
|
NM_023036.6(DNAI2):c.891G>A (p.Met297Ile)
|
rs750750518
|
0.00005
|
|
NM_080860.4(RSPH1):c.109C>T (p.Arg37Trp)
|
rs142034904
|
0.00005
|
|
NM_080860.4(RSPH1):c.205G>A (p.Gly69Arg)
|
rs368878819
|
0.00005
|
|
NM_080860.4(RSPH1):c.446C>T (p.Thr149Met)
|
rs376829214
|
0.00005
|
|
NM_080860.4(RSPH1):c.651G>A (p.Leu217=)
|
rs747395137
|
0.00005
|
|
NM_080860.4(RSPH1):c.727+5G>A
|
rs200382776
|
0.00005
|
|
NM_145038.5(DRC1):c.1509+17G>A
|
rs377178663
|
0.00005
|
|
NM_145038.5(DRC1):c.15G>A (p.Gly5=)
|
rs746939507
|
0.00005
|
|
NM_145038.5(DRC1):c.2064-18C>T
|
rs375821474
|
0.00005
|
|
NM_145038.5(DRC1):c.270C>T (p.Gly90=)
|
rs572607941
|
0.00005
|
|
NM_145038.5(DRC1):c.57C>T (p.Ser19=)
|
rs141160156
|
0.00005
|
|
NM_145038.5(DRC1):c.994G>C (p.Val332Leu)
|
rs367682395
|
0.00005
|
|
NM_152732.5(RSPH9):c.198C>T (p.Asp66=)
|
rs769502631
|
0.00005
|
|
NM_152732.5(RSPH9):c.281C>T (p.Ala94Val)
|
rs142194323
|
0.00005
|
|
NM_152732.5(RSPH9):c.393+11A>C
|
rs142583052
|
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.1528+12G>A
|
rs765784723
|
0.00005
|
|
NM_178452.6(DNAAF1):c.1699-9del
|
rs1187555170
|
0.00005
|
|
NM_178452.6(DNAAF1):c.1737G>C (p.Leu579Phe)
|
rs148622974
|
0.00005
|
|
NM_178452.6(DNAAF1):c.1956C>T (p.Asp652=)
|
rs764010439
|
0.00005
|
|
NM_178452.6(DNAAF1):c.260+3A>G
|
rs375447481
|
0.00005
|
|
NM_178452.6(DNAAF1):c.270A>T (p.Lys90Asn)
|
rs372387895
|
0.00005
|
|
NM_178452.6(DNAAF1):c.460C>T (p.Arg154Cys)
|
rs574238677
|
0.00005
|
|
NM_178452.6(DNAAF1):c.873G>A (p.Ala291=)
|
rs149704838
|
0.00005
|
|
NM_181426.2(CCDC39):c.1149G>A (p.Glu383=)
|
rs777802977
|
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.2406+6G>A
|
rs528695350
|
0.00005
|
|
NM_181426.2(CCDC39):c.261G>T (p.Lys87Asn)
|
rs575350719
|
0.00005
|
|
NM_181426.2(CCDC39):c.670A>G (p.Ile224Val)
|
rs544311014
|
0.00005
|
|
NM_213607.3(DNAAF19):c.471G>A (p.Pro157=)
|
rs772490551
|
0.00005
|
|
NC_000023.11:g.38269629T>C
|
rs771798016
|
0.00004
|
|
NC_000023.11:g.38269773C>T
|
rs749909061
|
0.00004
|
|
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.1193C>T (p.Ala398Val)
|
rs576716296
|
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.1814C>A (p.Pro605His)
|
rs775186734
|
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_001010892.3(RSPH4A):c.596G>T (p.Gly199Val)
|
rs143264253
|
0.00004
|
|
NM_001034853.2(RPGR):c.1129T>C (p.Phe377Leu)
|
rs758542643
|
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_001034853.2(RPGR):c.1572+18A>G
|
rs376945490
|
0.00004
|
|
NM_001034853.2(RPGR):c.1616C>T (p.Thr539Ile)
|
rs1464760066
|
0.00004
|
|
NM_001034853.2(RPGR):c.247+8A>G
|
rs1290611493
|
0.00004
|
|
NM_001034853.2(RPGR):c.2606A>G (p.Glu869Gly)
|
rs201131185
|
0.00004
|
|
NM_001034853.2(RPGR):c.3351G>C (p.Glu1117Asp)
|
rs199691696
|
0.00004
|
|
NM_001034853.2(RPGR):c.360G>A (p.Gly120=)
|
rs886154351
|
0.00004
|
|
NM_001034853.2(RPGR):c.620-5A>G
|
rs757030021
|
0.00004
|
|
NM_001190787.3(MCIDAS):c.1032G>A (p.Glu344=)
|
rs889420772
|
0.00004
|
|
NM_001190787.3(MCIDAS):c.57C>T (p.Pro19=)
|
rs1417940710
|
0.00004
|
|
NM_001190787.3(MCIDAS):c.717+13C>T
|
rs557504350
|
0.00004
|
|
NM_001190787.3(MCIDAS):c.721C>T (p.Leu241=)
|
rs567540275
|
0.00004
|
|
NM_001206927.2(DNAH8):c.1016A>G (p.Lys339Arg)
|
rs772095746
|
0.00004
|
|
NM_001206927.2(DNAH8):c.10980A>G (p.Leu3660=)
|
rs541761822
|
0.00004
|
|
NM_001206927.2(DNAH8):c.11157G>A (p.Leu3719=)
|
rs201642901
|
0.00004
|
|
NM_001206927.2(DNAH8):c.11345A>C (p.Asn3782Thr)
|
rs150057448
|
0.00004
|
|
NM_001206927.2(DNAH8):c.11563+1G>T
|
rs776791493
|
0.00004
|
|
NM_001206927.2(DNAH8):c.11577T>C (p.Asp3859=)
|
rs369713875
|
0.00004
|
|
NM_001206927.2(DNAH8):c.11598A>C (p.Val3866=)
|
rs140415898
|
0.00004
|
|
NM_001206927.2(DNAH8):c.11676C>T (p.Asn3892=)
|
rs764519856
|
0.00004
|
|
NM_001206927.2(DNAH8):c.11967del (p.Thr3991fs)
|
rs756851431
|
0.00004
|
|
NM_001206927.2(DNAH8):c.12651T>C (p.His4217=)
|
rs768250990
|
0.00004
|
|
NM_001206927.2(DNAH8):c.13473T>C (p.Ser4491=)
|
rs772278022
|
0.00004
|
|
NM_001206927.2(DNAH8):c.14107T>C (p.Leu4703=)
|
rs143828709
|
0.00004
|
|
NM_001206927.2(DNAH8):c.1650A>G (p.Ala550=)
|
rs376117274
|
0.00004
|
|
NM_001206927.2(DNAH8):c.2037A>G (p.Gln679=)
|
rs761979645
|
0.00004
|
|
NM_001206927.2(DNAH8):c.2083C>G (p.His695Asp)
|
rs200737379
|
0.00004
|
|
NM_001206927.2(DNAH8):c.2289C>T (p.Asp763=)
|
rs570158039
|
0.00004
|
|
NM_001206927.2(DNAH8):c.2290G>A (p.Gly764Ser)
|
rs199536824
|
0.00004
|
|
NM_001206927.2(DNAH8):c.2454C>T (p.Phe818=)
|
rs761076754
|
0.00004
|
|
NM_001206927.2(DNAH8):c.2716A>G (p.Thr906Ala)
|
rs769310274
|
0.00004
|
|
NM_001206927.2(DNAH8):c.2743G>A (p.Glu915Lys)
|
rs772099828
|
0.00004
|
|
NM_001206927.2(DNAH8):c.2949dup (p.Val984fs)
|
rs770372463
|
0.00004
|
|
NM_001206927.2(DNAH8):c.3126T>G (p.His1042Gln)
|
rs190247264
|
0.00004
|
|
NM_001206927.2(DNAH8):c.3214C>T (p.Arg1072Trp)
|
rs755566659
|
0.00004
|
|
NM_001206927.2(DNAH8):c.3404G>A (p.Ser1135Asn)
|
rs763714234
|
0.00004
|
|
NM_001206927.2(DNAH8):c.3573G>A (p.Pro1191=)
|
rs774512496
|
0.00004
|
|
NM_001206927.2(DNAH8):c.3858A>G (p.Lys1286=)
|
rs1038774938
|
0.00004
|
|
NM_001206927.2(DNAH8):c.3905G>A (p.Arg1302Gln)
|
rs267601013
|
0.00004
|
|
NM_001206927.2(DNAH8):c.3956T>C (p.Ile1319Thr)
|
rs201847227
|
0.00004
|
|
NM_001206927.2(DNAH8):c.423A>G (p.Arg141=)
|
rs766979092
|
0.00004
|
|
NM_001206927.2(DNAH8):c.4322A>G (p.Asn1441Ser)
|
rs567162400
|
0.00004
|
|
NM_001206927.2(DNAH8):c.4530T>C (p.Ser1510=)
|
rs1422849459
|
0.00004
|
|
NM_001206927.2(DNAH8):c.4845+16C>T
|
rs373161941
|
0.00004
|
|
NM_001206927.2(DNAH8):c.4996A>G (p.Thr1666Ala)
|
rs769387808
|
0.00004
|
|
NM_001206927.2(DNAH8):c.5046-15G>A
|
rs764312738
|
0.00004
|
|
NM_001206927.2(DNAH8):c.5128G>A (p.Val1710Ile)
|
rs756038605
|
0.00004
|
|
NM_001206927.2(DNAH8):c.5467-18T>C
|
rs761927452
|
0.00004
|
|
NM_001206927.2(DNAH8):c.5469G>T (p.Pro1823=)
|
rs61757626
|
0.00004
|
|
NM_001206927.2(DNAH8):c.5498A>G (p.Asn1833Ser)
|
rs143128496
|
0.00004
|
|
NM_001206927.2(DNAH8):c.5666C>T (p.Ser1889Phe)
|
rs781342164
|
0.00004
|
|
NM_001206927.2(DNAH8):c.5668G>A (p.Ala1890Thr)
|
rs375461103
|
0.00004
|
|
NM_001206927.2(DNAH8):c.5789G>A (p.Arg1930His)
|
rs758923038
|
0.00004
|
|
NM_001206927.2(DNAH8):c.582G>T (p.Leu194Phe)
|
rs748063803
|
0.00004
|
|
NM_001206927.2(DNAH8):c.5834A>C (p.Lys1945Thr)
|
rs549839617
|
0.00004
|
|
NM_001206927.2(DNAH8):c.6492A>G (p.Leu2164=)
|
rs150999554
|
0.00004
|
|
NM_001206927.2(DNAH8):c.6868G>A (p.Asp2290Asn)
|
rs374774952
|
0.00004
|
|
NM_001206927.2(DNAH8):c.6921C>T (p.Asn2307=)
|
rs536642412
|
0.00004
|
|
NM_001206927.2(DNAH8):c.6991-20T>C
|
rs370317194
|
0.00004
|
|
NM_001206927.2(DNAH8):c.7918C>A (p.Pro2640Thr)
|
rs575069902
|
0.00004
|
|
NM_001206927.2(DNAH8):c.8137-17C>T
|
rs752090384
|
0.00004
|
|
NM_001206927.2(DNAH8):c.8524A>G (p.Ile2842Val)
|
rs377381072
|
0.00004
|
|
NM_001206927.2(DNAH8):c.8747+5G>A
|
rs767171490
|
0.00004
|
|
NM_001206927.2(DNAH8):c.8852A>G (p.Tyr2951Cys)
|
rs746640155
|
0.00004
|
|
NM_001206927.2(DNAH8):c.9741-18T>C
|
rs752465939
|
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.1238+9G>T
|
rs375688483
|
0.00004
|
|
NM_001256715.2(DNAAF3):c.1421C>T (p.Pro474Leu)
|
rs200919669
|
0.00004
|
|
NM_001256715.2(DNAAF3):c.433G>A (p.Asp145Asn)
|
rs1442451142
|
0.00004
|
|
NM_001256715.2(DNAAF3):c.640C>T (p.Arg214Cys)
|
rs761550989
|
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.86-48A>G
|
rs1483874945
|
0.00004
|
|
NM_001256715.2(DNAAF3):c.921G>A (p.Gly307=)
|
rs775495587
|
0.00004
|
|
NM_001256715.2(DNAAF3):c.988A>G (p.Thr330Ala)
|
rs775837121
|
0.00004
|
|
NM_001277115.2(DNAH11):c.*264G>A
|
rs886062192
|
0.00004
|
|
NM_001277115.2(DNAH11):c.10036C>T (p.Arg3346Ter)
|
rs773851007
|
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.10241C>T (p.Thr3414Met)
|
rs779964310
|
0.00004
|
|
NM_001277115.2(DNAH11):c.10274C>A (p.Thr3425Lys)
|
rs367800491
|
0.00004
|
|
NM_001277115.2(DNAH11):c.10398C>T (p.Ala3466=)
|
rs748648201
|
0.00004
|
|
NM_001277115.2(DNAH11):c.1073G>T (p.Arg358Leu)
|
rs1427393462
|
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.11229G>A (p.Ala3743=)
|
rs369957863
|
0.00004
|
|
NM_001277115.2(DNAH11):c.11254G>A (p.Asp3752Asn)
|
rs370395919
|
0.00004
|
|
NM_001277115.2(DNAH11):c.11266C>T (p.Arg3756Cys)
|
rs766141716
|
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.11581G>A (p.Glu3861Lys)
|
rs367596683
|
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.11747T>C (p.Leu3916Ser)
|
rs538666182
|
0.00004
|
|
NM_001277115.2(DNAH11):c.12567A>G (p.Ala4189=)
|
rs562534503
|
0.00004
|
|
NM_001277115.2(DNAH11):c.12700C>T (p.Pro4234Ser)
|
rs376606944
|
0.00004
|
|
NM_001277115.2(DNAH11):c.12948A>G (p.Leu4316=)
|
rs746607145
|
0.00004
|
|
NM_001277115.2(DNAH11):c.13288G>A (p.Gly4430Arg)
|
rs1275074212
|
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.1723T>C (p.Phe575Leu)
|
rs747110907
|
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.2367G>A (p.Leu789=)
|
rs779115290
|
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.2686A>G (p.Lys896Glu)
|
rs1201932774
|
0.00004
|
|
NM_001277115.2(DNAH11):c.3025C>G (p.Leu1009Val)
|
rs542059067
|
0.00004
|
|
NM_001277115.2(DNAH11):c.3391T>A (p.Phe1131Ile)
|
rs756403735
|
0.00004
|
|
NM_001277115.2(DNAH11):c.3457A>T (p.Thr1153Ser)
|
rs767388925
|
0.00004
|
|
NM_001277115.2(DNAH11):c.3648+7G>T
|
rs756480157
|
0.00004
|
|
NM_001277115.2(DNAH11):c.367A>G (p.Asn123Asp)
|
rs750093486
|
0.00004
|
|
NM_001277115.2(DNAH11):c.3771G>A (p.Lys1257=)
|
rs762525044
|
0.00004
|
|
NM_001277115.2(DNAH11):c.3852+19A>C
|
rs375187783
|
0.00004
|
|
NM_001277115.2(DNAH11):c.3911G>A (p.Arg1304His)
|
rs369475751
|
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.4333C>T (p.Arg1445Ter)
|
rs72657316
|
0.00004
|
|
NM_001277115.2(DNAH11):c.4377+14G>T
|
rs537259426
|
0.00004
|
|
NM_001277115.2(DNAH11):c.4466A>G (p.Asp1489Gly)
|
rs371659661
|
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.5176G>A (p.Glu1726Lys)
|
rs373580829
|
0.00004
|
|
NM_001277115.2(DNAH11):c.5296G>A (p.Glu1766Lys)
|
rs371235859
|
0.00004
|
|
NM_001277115.2(DNAH11):c.5410A>G (p.Thr1804Ala)
|
rs567159036
|
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.5702A>C (p.Glu1901Ala)
|
rs750672801
|
0.00004
|
|
NM_001277115.2(DNAH11):c.5779-15C>T
|
rs774103962
|
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.6116C>T (p.Ala2039Val)
|
rs371460473
|
0.00004
|
|
NM_001277115.2(DNAH11):c.6143C>G (p.Thr2048Arg)
|
rs184241449
|
0.00004
|
|
NM_001277115.2(DNAH11):c.6173C>T (p.Ser2058Phe)
|
rs765090393
|
0.00004
|
|
NM_001277115.2(DNAH11):c.6683+16_6683+18del
|
rs750498878
|
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.7226C>T (p.Ala2409Val)
|
rs769281862
|
0.00004
|
|
NM_001277115.2(DNAH11):c.7360G>T (p.Val2454Leu)
|
rs536942937
|
0.00004
|
|
NM_001277115.2(DNAH11):c.7511A>G (p.Lys2504Arg)
|
rs775730577
|
0.00004
|
|
NM_001277115.2(DNAH11):c.7533T>C (p.Asn2511=)
|
rs371044449
|
0.00004
|
|
NM_001277115.2(DNAH11):c.7631C>T (p.Ser2544Phe)
|
rs567433822
|
0.00004
|
|
NM_001277115.2(DNAH11):c.8155-18C>T
|
rs149525683
|
0.00004
|
|
NM_001277115.2(DNAH11):c.8273T>C (p.Leu2758Ser)
|
rs368233591
|
0.00004
|
|
NM_001277115.2(DNAH11):c.8316+17del
|
rs748845778
|
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.882+7A>G
|
rs533700730
|
0.00004
|
|
NM_001277115.2(DNAH11):c.8878A>G (p.Met2960Val)
|
rs766857244
|
0.00004
|
|
NM_001277115.2(DNAH11):c.9154G>A (p.Val3052Ile)
|
rs758713187
|
0.00004
|
|
NM_001277115.2(DNAH11):c.9198C>G (p.His3066Gln)
|
rs775542623
|
0.00004
|
|
NM_001277115.2(DNAH11):c.9292C>T (p.Arg3098Cys)
|
rs769695221
|
0.00004
|
|
NM_001277115.2(DNAH11):c.982+12G>A
|
rs546259810
|
0.00004
|
|
NM_001277115.2(DNAH11):c.9924+20T>G
|
rs1158968648
|
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.1397A>G (p.His466Arg)
|
rs368172509
|
0.00004
|
|
NM_001364171.2(ODAD1):c.1467G>A (p.Pro489=)
|
rs201076998
|
0.00004
|
|
NM_001364171.2(ODAD1):c.155G>A (p.Arg52His)
|
rs746803038
|
0.00004
|
|
NM_001364171.2(ODAD1):c.1581+5G>A
|
rs773996867
|
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.2016G>A (p.Ala672=)
|
rs762838065
|
0.00004
|
|
NM_001364171.2(ODAD1):c.2116C>T (p.Arg706Trp)
|
rs200369693
|
0.00004
|
|
NM_001364171.2(ODAD1):c.226G>A (p.Ala76Thr)
|
rs376555574
|
0.00004
|
|
NM_001364171.2(ODAD1):c.405C>G (p.Val135=)
|
rs1173208373
|
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.711G>A (p.Glu237=)
|
rs371432008
|
0.00004
|
|
NM_001364171.2(ODAD1):c.811C>T (p.Arg271Trp)
|
rs141590182
|
0.00004
|
|
NM_001364171.2(ODAD1):c.819G>A (p.Pro273=)
|
rs148382103
|
0.00004
|
|
NM_001369.3(DNAH5):c.10378G>A (p.Val3460Met)
|
rs200012281
|
0.00004
|
|
NM_001369.3(DNAH5):c.10384C>T (p.Gln3462Ter)
|
rs571919972
|
0.00004
|
|
NM_001369.3(DNAH5):c.10432G>A (p.Asp3478Asn)
|
rs779972656
|
0.00004
|
|
NM_001369.3(DNAH5):c.10960G>C (p.Glu3654Gln)
|
rs138486840
|
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.12212G>A (p.Arg4071His)
|
rs745403938
|
0.00004
|
|
NM_001369.3(DNAH5):c.1240A>G (p.Asn414Asp)
|
rs143391709
|
0.00004
|
|
NM_001369.3(DNAH5):c.12490A>G (p.Thr4164Ala)
|
rs753204839
|
0.00004
|
|
NM_001369.3(DNAH5):c.12522C>T (p.Asp4174=)
|
rs376439430
|
0.00004
|
|
NM_001369.3(DNAH5):c.12685G>A (p.Asp4229Asn)
|
rs746241201
|
0.00004
|
|
NM_001369.3(DNAH5):c.12705+10C>T
|
rs758172356
|
0.00004
|
|
NM_001369.3(DNAH5):c.12910-6G>A
|
rs759148086
|
0.00004
|
|
NM_001369.3(DNAH5):c.13090C>T (p.Leu4364=)
|
rs764898250
|
0.00004
|
|
NM_001369.3(DNAH5):c.13255G>C (p.Asp4419His)
|
rs373749995
|
0.00004
|
|
NM_001369.3(DNAH5):c.13449G>A (p.Thr4483=)
|
rs768159386
|
0.00004
|
|
NM_001369.3(DNAH5):c.13502G>A (p.Arg4501Gln)
|
rs781267941
|
0.00004
|
|
NM_001369.3(DNAH5):c.13724-11G>T
|
rs760823380
|
0.00004
|
|
NM_001369.3(DNAH5):c.1416A>G (p.Lys472=)
|
rs748792501
|
0.00004
|
|
NM_001369.3(DNAH5):c.1435C>T (p.Arg479Cys)
|
rs200494845
|
0.00004
|
|
NM_001369.3(DNAH5):c.1586G>A (p.Arg529Gln)
|
rs761289479
|
0.00004
|
|
NM_001369.3(DNAH5):c.1714T>C (p.Leu572=)
|
rs765545482
|
0.00004
|
|
NM_001369.3(DNAH5):c.1731-7A>T
|
rs1224957158
|
0.00004
|
|
NM_001369.3(DNAH5):c.1982G>A (p.Arg661His)
|
rs185855852
|
0.00004
|
|
NM_001369.3(DNAH5):c.2307C>T (p.Ala769=)
|
rs773547505
|
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.2609A>G (p.His870Arg)
|
rs201267711
|
0.00004
|
|
NM_001369.3(DNAH5):c.2622A>G (p.Ser874=)
|
rs1450777548
|
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.2984A>G (p.Asp995Gly)
|
rs749983185
|
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.3405T>C (p.Ile1135=)
|
rs560272549
|
0.00004
|
|
NM_001369.3(DNAH5):c.3517A>C (p.Ile1173Leu)
|
rs375686889
|
0.00004
|
|
NM_001369.3(DNAH5):c.3666C>T (p.Asn1222=)
|
rs542552959
|
0.00004
|
|
NM_001369.3(DNAH5):c.3934C>T (p.Arg1312Cys)
|
rs781667158
|
0.00004
|
|
NM_001369.3(DNAH5):c.4139G>A (p.Arg1380Gln)
|
rs779980906
|
0.00004
|
|
NM_001369.3(DNAH5):c.4324A>C (p.Ile1442Leu)
|
rs371141184
|
0.00004
|
|
NM_001369.3(DNAH5):c.438+7G>A
|
rs906212553
|
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.4736C>T (p.Ser1579Leu)
|
rs184151103
|
0.00004
|
|
NM_001369.3(DNAH5):c.4995C>T (p.Ile1665=)
|
rs748438142
|
0.00004
|
|
NM_001369.3(DNAH5):c.506C>T (p.Ser169Leu)
|
rs749078502
|
0.00004
|
|
NM_001369.3(DNAH5):c.5157C>T (p.Phe1719=)
|
rs749688197
|
0.00004
|
|
NM_001369.3(DNAH5):c.5209A>G (p.Thr1737Ala)
|
rs978579610
|
0.00004
|
|
NM_001369.3(DNAH5):c.558C>T (p.Leu186=)
|
rs145895917
|
0.00004
|
|
NM_001369.3(DNAH5):c.5816C>T (p.Ala1939Val)
|
rs376871205
|
0.00004
|
|
NM_001369.3(DNAH5):c.5878G>T (p.Asp1960Tyr)
|
rs1298235452
|
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.6007G>A (p.Val2003Ile)
|
rs776402895
|
0.00004
|
|
NM_001369.3(DNAH5):c.6551T>C (p.Val2184Ala)
|
rs200805455
|
0.00004
|
|
NM_001369.3(DNAH5):c.6710A>G (p.Asn2237Ser)
|
rs139691424
|
0.00004
|
|
NM_001369.3(DNAH5):c.6957G>A (p.Thr2319=)
|
rs202042219
|
0.00004
|
|
NM_001369.3(DNAH5):c.6989-14G>T
|
rs368353964
|
0.00004
|
|
NM_001369.3(DNAH5):c.7306T>C (p.Tyr2436His)
|
rs373885245
|
0.00004
|
|
NM_001369.3(DNAH5):c.7407+13A>C
|
rs1175951108
|
0.00004
|
|
NM_001369.3(DNAH5):c.7475C>T (p.Ala2492Val)
|
rs529080443
|
0.00004
|
|
NM_001369.3(DNAH5):c.7649T>A (p.Leu2550Gln)
|
rs371695477
|
0.00004
|
|
NM_001369.3(DNAH5):c.799-13C>T
|
rs373633937
|
0.00004
|
|
NM_001369.3(DNAH5):c.8273A>C (p.Glu2758Ala)
|
rs527914224
|
0.00004
|
|
NM_001369.3(DNAH5):c.8296T>C (p.Leu2766=)
|
rs200554369
|
0.00004
|
|
NM_001369.3(DNAH5):c.8404C>T (p.Gln2802Ter)
|
rs1193586811
|
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.9052A>T (p.Ile3018Phe)
|
rs375063617
|
0.00004
|
|
NM_001369.3(DNAH5):c.9129T>C (p.Asp3043=)
|
rs528498959
|
0.00004
|
|
NM_001369.3(DNAH5):c.9356A>G (p.Lys3119Arg)
|
rs1251640049
|
0.00004
|
|
NM_001369.3(DNAH5):c.9511A>T (p.Thr3171Ser)
|
rs149681419
|
0.00004
|
|
NM_001369.3(DNAH5):c.9705C>T (p.Asn3235=)
|
rs770064361
|
0.00004
|
|
NM_001369.3(DNAH5):c.9715G>A (p.Asp3239Asn)
|
rs531401316
|
0.00004
|
|
NM_001372.4(DNAH9):c.8870_8871del (p.Pro2957fs)
|
rs749364709
|
0.00004
|
|
NM_001481.3(DRC4):c.490C>T (p.Arg164Trp)
|
rs151099141
|
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.1064-9C>T
|
rs764425574
|
0.00004
|
|
NM_012144.4(DNAI1):c.1152C>T (p.Ser384=)
|
rs145549023
|
0.00004
|
|
NM_012144.4(DNAI1):c.1212T>G (p.Tyr404Ter)
|
rs926347298
|
0.00004
|
|
NM_012144.4(DNAI1):c.1235A>G (p.Asn412Ser)
|
rs1056525406
|
0.00004
|
|
NM_012144.4(DNAI1):c.1401+3G>A
|
rs759795923
|
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.1570-18C>T
|
rs139211230
|
0.00004
|
|
NM_012144.4(DNAI1):c.1693G>A (p.Val565Met)
|
rs139953639
|
0.00004
|
|
NM_012144.4(DNAI1):c.1719-3C>T
|
rs1424934897
|
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.371G>A (p.Arg124His)
|
rs759257177
|
0.00004
|
|
NM_012144.4(DNAI1):c.501+10A>C
|
rs765805502
|
0.00004
|
|
NM_012144.4(DNAI1):c.692A>G (p.Tyr231Cys)
|
rs577672150
|
0.00004
|
|
NM_012144.4(DNAI1):c.720G>T (p.Lys240Asn)
|
rs999905460
|
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_012144.4(DNAI1):c.963G>A (p.Pro321=)
|
rs762694599
|
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_015512.5(DNAH1):c.11667_11668insC (p.Asp3890fs)
|
rs765688686
|
0.00004
|
|
NM_015512.5(DNAH1):c.11726_11727del (p.Pro3909fs)
|
rs779490893
|
0.00004
|
|
NM_015896.4(ZMYND10):c.320T>C (p.Val107Ala)
|
rs751659076
|
0.00004
|
|
NM_015896.4(ZMYND10):c.461G>A (p.Cys154Tyr)
|
rs587704784
|
0.00004
|
|
NM_015896.4(ZMYND10):c.611G>A (p.Ser204Asn)
|
rs201058230
|
0.00004
|
|
NM_015896.4(ZMYND10):c.692G>A (p.Arg231Gln)
|
rs773115830
|
0.00004
|
|
NM_015896.4(ZMYND10):c.778G>A (p.Gly260Arg)
|
rs774583071
|
0.00004
|
|
NM_015896.4(ZMYND10):c.797T>C (p.Leu266Pro)
|
rs200913791
|
0.00004
|
|
NM_015896.4(ZMYND10):c.79A>G (p.Met27Val)
|
rs587680539
|
0.00004
|
|
NM_015896.4(ZMYND10):c.862C>T (p.Arg288Trp)
|
rs1245120737
|
0.00004
|
|
NM_015896.4(ZMYND10):c.877C>T (p.Arg293Trp)
|
rs371047847
|
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.1057G>A (p.Val353Ile)
|
rs761665711
|
0.00004
|
|
NM_017802.4(DNAAF5):c.1184C>T (p.Thr395Met)
|
rs558096583
|
0.00004
|
|
NM_017802.4(DNAAF5):c.1230C>T (p.Thr410=)
|
rs779072395
|
0.00004
|
|
NM_017802.4(DNAAF5):c.1329G>A (p.Thr443=)
|
rs150096726
|
0.00004
|
|
NM_017802.4(DNAAF5):c.1341G>A (p.Thr447=)
|
rs200587511
|
0.00004
|
|
NM_017802.4(DNAAF5):c.1354G>A (p.Gly452Ser)
|
rs141689064
|
0.00004
|
|
NM_017802.4(DNAAF5):c.1406A>G (p.Gln469Arg)
|
rs750610445
|
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.1783+8G>A
|
rs758632496
|
0.00004
|
|
NM_017802.4(DNAAF5):c.1784-1G>T
|
rs765025514
|
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.534C>T (p.Pro178=)
|
rs543234628
|
0.00004
|
|
NM_017802.4(DNAAF5):c.678C>T (p.Ala226=)
|
rs563294364
|
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.1292G>A (p.Arg431Gln)
|
rs766914160
|
0.00004
|
|
NM_017950.4(CCDC40):c.1714T>C (p.Cys572Arg)
|
rs199786478
|
0.00004
|
|
NM_017950.4(CCDC40):c.2377G>A (p.Glu793Lys)
|
rs367812804
|
0.00004
|
|
NM_017950.4(CCDC40):c.239A>T (p.Glu80Val)
|
rs190249222
|
0.00004
|
|
NM_017950.4(CCDC40):c.23C>G (p.Ala8Gly)
|
rs751298635
|
0.00004
|
|
NM_017950.4(CCDC40):c.2514C>T (p.Asn838=)
|
rs372524775
|
0.00004
|
|
NM_017950.4(CCDC40):c.2619+5G>A
|
rs184333269
|
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.2853G>A (p.Leu951=)
|
rs768280461
|
0.00004
|
|
NM_017950.4(CCDC40):c.2876G>A (p.Arg959His)
|
rs369114517
|
0.00004
|
|
NM_017950.4(CCDC40):c.29+7C>G
|
rs558574170
|
0.00004
|
|
NM_017950.4(CCDC40):c.3100C>G (p.Gln1034Glu)
|
rs367614851
|
0.00004
|
|
NM_017950.4(CCDC40):c.3180+6C>G
|
rs753716586
|
0.00004
|
|
NM_017950.4(CCDC40):c.3181-15T>C
|
rs376546339
|
0.00004
|
|
NM_017950.4(CCDC40):c.3321C>T (p.Ile1107=)
|
rs377384113
|
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.614G>A (p.Arg205Gln)
|
rs572093892
|
0.00004
|
|
NM_017950.4(CCDC40):c.637G>A (p.Glu213Lys)
|
rs372360189
|
0.00004
|
|
NM_017950.4(CCDC40):c.855+4A>G
|
rs138001923
|
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.1128C>G (p.Asp376Glu)
|
rs764335344
|
0.00004
|
|
NM_018139.3(DNAAF2):c.122A>C (p.Glu41Ala)
|
rs1452570914
|
0.00004
|
|
NM_018139.3(DNAAF2):c.1314G>A (p.Gln438=)
|
rs767668051
|
0.00004
|
|
NM_018139.3(DNAAF2):c.1391G>A (p.Gly464Asp)
|
rs1024449397
|
0.00004
|
|
NM_018139.3(DNAAF2):c.1442C>A (p.Ala481Glu)
|
rs372054376
|
0.00004
|
|
NM_018139.3(DNAAF2):c.1465G>C (p.Asp489His)
|
rs946095833
|
0.00004
|
|
NM_018139.3(DNAAF2):c.1503G>T (p.Thr501=)
|
rs201546624
|
0.00004
|
|
NM_018139.3(DNAAF2):c.1983T>A (p.Asp661Glu)
|
rs758897357
|
0.00004
|
|
NM_018139.3(DNAAF2):c.2007+5G>A
|
rs757313579
|
0.00004
|
|
NM_018139.3(DNAAF2):c.2008-10C>T
|
rs747595279
|
0.00004
|
|
NM_018139.3(DNAAF2):c.2331A>G (p.Glu777=)
|
rs755114164
|
0.00004
|
|
NM_018139.3(DNAAF2):c.2475A>G (p.Ala825=)
|
rs151051293
|
0.00004
|
|
NM_018139.3(DNAAF2):c.365C>T (p.Pro122Leu)
|
rs958625302
|
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_021147.5(CCNO):c.579C>T (p.His193=)
|
rs552011098
|
0.00004
|
|
NM_021147.5(CCNO):c.843C>T (p.Ser281=)
|
rs759691847
|
0.00004
|
|
NM_021147.5(CCNO):c.851C>T (p.Ala284Val)
|
rs1000287085
|
0.00004
|
|
NM_023036.6(DNAI2):c.1044G>A (p.Lys348=)
|
rs775726145
|
0.00004
|
|
NM_023036.6(DNAI2):c.1142T>C (p.Leu381Pro)
|
rs373836524
|
0.00004
|
|
NM_023036.6(DNAI2):c.1165C>T (p.Arg389Cys)
|
rs375896715
|
0.00004
|
|
NM_023036.6(DNAI2):c.1211+10G>A
|
rs766029339
|
0.00004
|
|
NM_023036.6(DNAI2):c.1327G>A (p.Asp443Asn)
|
rs368225621
|
0.00004
|
|
NM_023036.6(DNAI2):c.1407C>T (p.Cys469=)
|
rs143723454
|
0.00004
|
|
NM_023036.6(DNAI2):c.1494C>T (p.Ser498=)
|
rs761516740
|
0.00004
|
|
NM_023036.6(DNAI2):c.162G>A (p.Ser54=)
|
rs199562768
|
0.00004
|
|
NM_023036.6(DNAI2):c.1632G>A (p.Leu544=)
|
rs370359274
|
0.00004
|
|
NM_023036.6(DNAI2):c.1713G>A (p.Thr571=)
|
rs377499410
|
0.00004
|
|
NM_023036.6(DNAI2):c.324C>T (p.Asn108=)
|
rs762726791
|
0.00004
|
|
NM_023036.6(DNAI2):c.325G>A (p.Ala109Thr)
|
rs192790912
|
0.00004
|
|
NM_023036.6(DNAI2):c.408C>T (p.Asp136=)
|
rs770624431
|
0.00004
|
|
NM_023036.6(DNAI2):c.468-12T>C
|
rs753113481
|
0.00004
|
|
NM_023036.6(DNAI2):c.565C>T (p.Arg189Trp)
|
rs138885031
|
0.00004
|
|
NM_023036.6(DNAI2):c.610+13G>A
|
rs368636962
|
0.00004
|
|
NM_023036.6(DNAI2):c.663G>A (p.Thr221=)
|
rs368232107
|
0.00004
|
|
NM_023036.6(DNAI2):c.739C>T (p.Arg247Ter)
|
rs545536618
|
0.00004
|
|
NM_023036.6(DNAI2):c.787C>T (p.Arg263Ter)
|
rs137852998
|
0.00004
|
|
NM_023036.6(DNAI2):c.865-17G>A
|
rs373253119
|
0.00004
|
|
NM_023036.6(DNAI2):c.933G>A (p.Lys311=)
|
rs570168701
|
0.00004
|
|
NM_031924.8(RSPH3):c.-120C>A
|
rs140068249
|
0.00004
|
|
NM_080860.4(RSPH1):c.483C>A (p.Gly161=)
|
rs371312378
|
0.00004
|
|
NM_080860.4(RSPH1):c.652G>A (p.Ala218Thr)
|
rs375794854
|
0.00004
|
|
NM_080860.4(RSPH1):c.66G>T (p.Gly22=)
|
rs774776494
|
0.00004
|
|
NM_080860.4(RSPH1):c.693G>A (p.Thr231=)
|
rs372338741
|
0.00004
|
|
NM_080860.4(RSPH1):c.835C>T (p.Arg279Trp)
|
rs373429437
|
0.00004
|
|
NM_145038.5(DRC1):c.1226C>T (p.Ala409Val)
|
rs754270018
|
0.00004
|
|
NM_145038.5(DRC1):c.1391G>A (p.Arg464His)
|
rs200271366
|
0.00004
|
|
NM_145038.5(DRC1):c.1599+1G>A
|
rs146412095
|
0.00004
|
|
NM_145038.5(DRC1):c.1599C>T (p.Ser533=)
|
rs377416255
|
0.00004
|
|
NM_145038.5(DRC1):c.178G>A (p.Asp60Asn)
|
rs927792575
|
0.00004
|
|
NM_145038.5(DRC1):c.1926G>A (p.Ser642=)
|
rs144870659
|
0.00004
|
|
NM_145038.5(DRC1):c.1944A>G (p.Val648=)
|
rs774615084
|
0.00004
|
|
NM_145038.5(DRC1):c.237C>A (p.Ser79Arg)
|
rs201097702
|
0.00004
|
|
NM_145038.5(DRC1):c.765+15C>T
|
rs201801977
|
0.00004
|
|
NM_152732.5(RSPH9):c.760C>T (p.Arg254Cys)
|
rs200193470
|
0.00004
|
|
NM_178452.6(DNAAF1):c.1030+15G>A
|
rs774316277
|
0.00004
|
|
NM_178452.6(DNAAF1):c.1218G>A (p.Glu406=)
|
rs374207885
|
0.00004
|
|
NM_178452.6(DNAAF1):c.1593G>A (p.Thr531=)
|
rs372197911
|
0.00004
|
|
NM_178452.6(DNAAF1):c.1713G>A (p.Pro571=)
|
rs772607419
|
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.359A>T (p.Asp120Val)
|
rs143005689
|
0.00004
|
|
NM_178452.6(DNAAF1):c.618C>G (p.His206Gln)
|
rs372777928
|
0.00004
|
|
NM_178452.6(DNAAF1):c.742-6T>C
|
rs749307507
|
0.00004
|
|
NM_178452.6(DNAAF1):c.767C>T (p.Pro256Leu)
|
rs764943936
|
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.1436C>T (p.Ala479Val)
|
rs780264719
|
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.1960G>A (p.Gly654Arg)
|
rs371143749
|
0.00004
|
|
NM_181426.2(CCDC39):c.2387T>C (p.Leu796Ser)
|
rs377454931
|
0.00004
|
|
NM_181426.2(CCDC39):c.2596G>T (p.Glu866Ter)
|
rs757823891
|
0.00004
|
|
NM_181426.2(CCDC39):c.2626C>T (p.Arg876Cys)
|
rs745852520
|
0.00004
|
|
NM_181426.2(CCDC39):c.2670-14G>A
|
rs1240386443
|
0.00004
|
|
NM_181426.2(CCDC39):c.2T>C (p.Met1Thr)
|
rs758493174
|
0.00004
|
|
NM_181426.2(CCDC39):c.42G>A (p.Gly14=)
|
rs759103433
|
0.00004
|
|
NM_181426.2(CCDC39):c.474C>T (p.Leu158=)
|
rs777326219
|
0.00004
|
|
NM_181426.2(CCDC39):c.626C>G (p.Ala209Gly)
|
rs371857720
|
0.00004
|
|
NM_181426.2(CCDC39):c.816G>T (p.Glu272Asp)
|
rs775659100
|
0.00004
|
|
NM_213607.3(DNAAF19):c.133G>A (p.Glu45Lys)
|
rs748579846
|
0.00004
|
|
NM_213607.3(DNAAF19):c.138G>C (p.Glu46Asp)
|
rs187049607
|
0.00004
|
|
NM_213607.3(DNAAF19):c.197G>A (p.Gly66Glu)
|
rs199961859
|
0.00004
|
|
NM_213607.3(DNAAF19):c.303G>A (p.Thr101=)
|
rs200964903
|
0.00004
|
|
NM_213607.3(DNAAF19):c.353A>C (p.Glu118Ala)
|
rs758916687
|
0.00004
|
|
NM_213607.3(DNAAF19):c.393C>T (p.Leu131=)
|
rs766427351
|
0.00004
|
|
NM_213607.3(DNAAF19):c.470C>T (p.Pro157Leu)
|
rs1159140845
|
0.00004
|
|
NM_213607.3(DNAAF19):c.485C>T (p.Ala162Val)
|
rs146454626
|
0.00004
|
|
NC_000023.11:g.38273421T>C
|
rs746373784
|
0.00003
|
|
NC_000023.11:g.38275105G>A
|
rs779998371
|
0.00003
|
|
NC_000023.11:g.38276729A>G
|
rs752091528
|
0.00003
|
|
NM_001010892.3(RSPH4A):c.1103T>G (p.Val368Gly)
|
rs747419302
|
0.00003
|
|
NM_001010892.3(RSPH4A):c.1165G>A (p.Glu389Lys)
|
rs368398120
|
0.00003
|
|
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.1490dup (p.Ser498fs)
|
rs762267064
|
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.1346G>A (p.Arg449Gln)
|
rs753418463
|
0.00003
|
|
NM_001034853.2(RPGR):c.1500A>C (p.Leu500Phe)
|
rs375014257
|
0.00003
|
|
NM_001034853.2(RPGR):c.1507-9T>C
|
rs753551383
|
0.00003
|
|
NM_001034853.2(RPGR):c.155-10C>T
|
rs757403373
|
0.00003
|
|
NM_001034853.2(RPGR):c.1708A>G (p.Thr570Ala)
|
rs768169831
|
0.00003
|
|
NM_001034853.2(RPGR):c.1722G>A (p.Thr574=)
|
rs372171763
|
0.00003
|
|
NM_001034853.2(RPGR):c.1728C>T (p.Ile576=)
|
rs145682975
|
0.00003
|
|
NM_001034853.2(RPGR):c.1734A>G (p.Ala578=)
|
rs772015036
|
0.00003
|
|
NM_001034853.2(RPGR):c.2820A>G (p.Glu940=)
|
rs1194464187
|
0.00003
|
|
NM_001034853.2(RPGR):c.2946A>G (p.Glu982=)
|
rs1165629800
|
0.00003
|
|
NM_001034853.2(RPGR):c.294C>T (p.His98=)
|
rs62638636
|
0.00003
|
|
NM_001034853.2(RPGR):c.2986G>A (p.Glu996Lys)
|
rs1407084752
|
0.00003
|
|
NM_001034853.2(RPGR):c.311-20G>A
|
rs763152981
|
0.00003
|
|
NM_001034853.2(RPGR):c.3416A>C (p.Lys1139Thr)
|
rs756242105
|
0.00003
|
|
NM_001034853.2(RPGR):c.690C>A (p.Gly230=)
|
rs370173004
|
0.00003
|
|
NM_001034853.2(RPGR):c.934+11G>A
|
rs777626610
|
0.00003
|
|
NM_001034853.2(RPGR):c.972C>T (p.His324=)
|
rs771739225
|
0.00003
|
|
NM_001034853.2(RPGR):c.9G>A (p.Glu3=)
|
rs769874474
|
0.00003
|
|
NM_001190787.3(MCIDAS):c.156A>G (p.Thr52=)
|
rs1292227354
|
0.00003
|
|
NM_001190787.3(MCIDAS):c.165C>G (p.Ser55Arg)
|
rs1031493457
|
0.00003
|
|
NM_001190787.3(MCIDAS):c.218-7C>A
|
rs552431366
|
0.00003
|
|
NM_001190787.3(MCIDAS):c.309+7C>G
|
rs541912982
|
0.00003
|
|
NM_001190787.3(MCIDAS):c.682G>T (p.Ala228Ser)
|
rs533613049
|
0.00003
|
|
NM_001206927.2(DNAH8):c.10140+7A>G
|
rs982791385
|
0.00003
|
|
NM_001206927.2(DNAH8):c.10409A>G (p.Asp3470Gly)
|
rs772344943
|
0.00003
|
|
NM_001206927.2(DNAH8):c.10433A>G (p.Lys3478Arg)
|
rs776011753
|
0.00003
|
|
NM_001206927.2(DNAH8):c.10437A>T (p.Lys3479Asn)
|
rs377194021
|
0.00003
|
|
NM_001206927.2(DNAH8):c.10447A>T (p.Asn3483Tyr)
|
rs1023777490
|
0.00003
|
|
NM_001206927.2(DNAH8):c.10525-20C>A
|
rs779021668
|
0.00003
|
|
NM_001206927.2(DNAH8):c.10575A>G (p.Leu3525=)
|
rs747217350
|
0.00003
|
|
NM_001206927.2(DNAH8):c.106C>T (p.Pro36Ser)
|
rs1178576726
|
0.00003
|
|
NM_001206927.2(DNAH8):c.10942A>G (p.Met3648Val)
|
rs754232500
|
0.00003
|
|
NM_001206927.2(DNAH8):c.10992A>T (p.Pro3664=)
|
rs750376660
|
0.00003
|
|
NM_001206927.2(DNAH8):c.11367T>G (p.Ile3789Met)
|
rs145133976
|
0.00003
|
|
NM_001206927.2(DNAH8):c.11602C>T (p.Arg3868Ter)
|
rs769929539
|
0.00003
|
|
NM_001206927.2(DNAH8):c.11709C>A (p.Thr3903=)
|
rs145061720
|
0.00003
|
|
NM_001206927.2(DNAH8):c.1196T>C (p.Met399Thr)
|
rs374073806
|
0.00003
|
|
NM_001206927.2(DNAH8):c.12136C>T (p.Arg4046Cys)
|
rs751189468
|
0.00003
|
|
NM_001206927.2(DNAH8):c.12526-3C>T
|
rs374461538
|
0.00003
|
|
NM_001206927.2(DNAH8):c.12876C>T (p.Tyr4292=)
|
rs772259392
|
0.00003
|
|
NM_001206927.2(DNAH8):c.12984C>T (p.Ile4328=)
|
rs746148886
|
0.00003
|
|
NM_001206927.2(DNAH8):c.1301G>T (p.Arg434Leu)
|
rs754133293
|
0.00003
|
|
NM_001206927.2(DNAH8):c.13030C>T (p.Arg4344Cys)
|
rs761380037
|
0.00003
|
|
NM_001206927.2(DNAH8):c.13758A>G (p.Lys4586=)
|
rs752727909
|
0.00003
|
|
NM_001206927.2(DNAH8):c.14017C>T (p.Pro4673Ser)
|
rs144993102
|
0.00003
|
|
NM_001206927.2(DNAH8):c.1414A>G (p.Met472Val)
|
rs150780644
|
0.00003
|
|
NM_001206927.2(DNAH8):c.1770A>G (p.Thr590=)
|
rs758558948
|
0.00003
|
|
NM_001206927.2(DNAH8):c.1983G>A (p.Met661Ile)
|
rs769997917
|
0.00003
|
|
NM_001206927.2(DNAH8):c.2127T>C (p.Asp709=)
|
rs977305613
|
0.00003
|
|
NM_001206927.2(DNAH8):c.2182A>G (p.Met728Val)
|
rs746052496
|
0.00003
|
|
NM_001206927.2(DNAH8):c.2224T>C (p.Tyr742His)
|
rs766094006
|
0.00003
|
|
NM_001206927.2(DNAH8):c.2394C>T (p.Tyr798=)
|
rs762160890
|
0.00003
|
|
NM_001206927.2(DNAH8):c.2664+2T>C
|
rs753831132
|
0.00003
|
|
NM_001206927.2(DNAH8):c.2680A>C (p.Arg894=)
|
rs778343790
|
0.00003
|
|
NM_001206927.2(DNAH8):c.2837C>A (p.Thr946Asn)
|
rs767272246
|
0.00003
|
|
NM_001206927.2(DNAH8):c.309G>A (p.Leu103=)
|
rs768999060
|
0.00003
|
|
NM_001206927.2(DNAH8):c.3128A>T (p.Asp1043Val)
|
rs546536222
|
0.00003
|
|
NM_001206927.2(DNAH8):c.3257+16G>A
|
rs769957276
|
0.00003
|
|
NM_001206927.2(DNAH8):c.3268C>T (p.Arg1090Ter)
|
rs199969537
|
0.00003
|
|
NM_001206927.2(DNAH8):c.3299T>C (p.Ile1100Thr)
|
rs764655921
|
0.00003
|
|
NM_001206927.2(DNAH8):c.375A>G (p.Thr125=)
|
rs780859367
|
0.00003
|
|
NM_001206927.2(DNAH8):c.3804G>T (p.Glu1268Asp)
|
rs773699478
|
0.00003
|
|
NM_001206927.2(DNAH8):c.4084-11T>C
|
rs559461735
|
0.00003
|
|
NM_001206927.2(DNAH8):c.4212T>G (p.Val1404=)
|
rs780066300
|
0.00003
|
|
NM_001206927.2(DNAH8):c.4365+18T>A
|
rs1279054034
|
0.00003
|
|
NM_001206927.2(DNAH8):c.4846G>T (p.Asp1616Tyr)
|
rs528250155
|
0.00003
|
|
NM_001206927.2(DNAH8):c.4982C>T (p.Ser1661Leu)
|
rs1293165543
|
0.00003
|
|
NM_001206927.2(DNAH8):c.5038A>G (p.Ser1680Gly)
|
rs541531465
|
0.00003
|
|
NM_001206927.2(DNAH8):c.5380C>T (p.Arg1794Ter)
|
rs781224411
|
0.00003
|
|
NM_001206927.2(DNAH8):c.5530C>T (p.Arg1844Cys)
|
rs747954312
|
0.00003
|
|
NM_001206927.2(DNAH8):c.5637G>A (p.Gln1879=)
|
rs1377616541
|
0.00003
|
|
NM_001206927.2(DNAH8):c.5734-13G>T
|
rs779630203
|
0.00003
|
|
NM_001206927.2(DNAH8):c.5738_5741dup (p.Leu1915fs)
|
rs1190884969
|
0.00003
|
|
NM_001206927.2(DNAH8):c.6035A>G (p.Asp2012Gly)
|
rs762397682
|
0.00003
|
|
NM_001206927.2(DNAH8):c.6256G>A (p.Val2086Met)
|
rs748005521
|
0.00003
|
|
NM_001206927.2(DNAH8):c.6334G>A (p.Gly2112Ser)
|
rs146299075
|
0.00003
|
|
NM_001206927.2(DNAH8):c.6772G>A (p.Asp2258Asn)
|
rs552357174
|
0.00003
|
|
NM_001206927.2(DNAH8):c.6788T>C (p.Ile2263Thr)
|
rs773895088
|
0.00003
|
|
NM_001206927.2(DNAH8):c.6828+7_6828+8insGGAATA
|
rs1285401128
|
0.00003
|
|
NM_001206927.2(DNAH8):c.682C>T (p.Pro228Ser)
|
rs199848059
|
0.00003
|
|
NM_001206927.2(DNAH8):c.6906T>C (p.Tyr2302=)
|
rs775197463
|
0.00003
|
|
NM_001206927.2(DNAH8):c.6931C>T (p.His2311Tyr)
|
rs370226425
|
0.00003
|
|
NM_001206927.2(DNAH8):c.7015C>T (p.His2339Tyr)
|
rs373404092
|
0.00003
|
|
NM_001206927.2(DNAH8):c.7035G>A (p.Gly2345=)
|
rs376298750
|
0.00003
|
|
NM_001206927.2(DNAH8):c.7362del (p.Ser2455fs)
|
rs769126261
|
0.00003
|
|
NM_001206927.2(DNAH8):c.768G>A (p.Ala256=)
|
rs548311289
|
0.00003
|
|
NM_001206927.2(DNAH8):c.7802C>T (p.Pro2601Leu)
|
rs149015796
|
0.00003
|
|
NM_001206927.2(DNAH8):c.8177C>T (p.Thr2726Ile)
|
rs142939612
|
0.00003
|
|
NM_001206927.2(DNAH8):c.8259+11A>G
|
rs1165097947
|
0.00003
|
|
NM_001206927.2(DNAH8):c.8353C>T (p.Leu2785Phe)
|
rs151260543
|
0.00003
|
|
NM_001206927.2(DNAH8):c.8685C>T (p.Cys2895=)
|
rs779311596
|
0.00003
|
|
NM_001206927.2(DNAH8):c.8686G>A (p.Ala2896Thr)
|
rs752786346
|
0.00003
|
|
NM_001206927.2(DNAH8):c.8742A>G (p.Ala2914=)
|
rs200031658
|
0.00003
|
|
NM_001206927.2(DNAH8):c.8792C>G (p.Thr2931Ser)
|
rs372046397
|
0.00003
|
|
NM_001206927.2(DNAH8):c.8940G>A (p.Leu2980=)
|
rs373096913
|
0.00003
|
|
NM_001206927.2(DNAH8):c.8942T>C (p.Met2981Thr)
|
rs539475448
|
0.00003
|
|
NM_001206927.2(DNAH8):c.9063+9T>G
|
rs377327365
|
0.00003
|
|
NM_001206927.2(DNAH8):c.9070C>T (p.Arg3024Ter)
|
rs375764737
|
0.00003
|
|
NM_001206927.2(DNAH8):c.9223G>A (p.Asp3075Asn)
|
rs773209277
|
0.00003
|
|
NM_001206927.2(DNAH8):c.9459A>G (p.Glu3153=)
|
rs745722973
|
0.00003
|
|
NM_001206927.2(DNAH8):c.9514-20G>C
|
rs756004522
|
0.00003
|
|
NM_001206927.2(DNAH8):c.9589C>T (p.Arg3197Cys)
|
rs375494581
|
0.00003
|
|
NM_001206927.2(DNAH8):c.9745C>T (p.Arg3249Cys)
|
rs557128576
|
0.00003
|
|
NM_001206927.2(DNAH8):c.9860-20A>G
|
rs143220839
|
0.00003
|
|
NM_001256715.2(DNAAF3):c.-65G>C
|
rs1371744369
|
0.00003
|
|
NM_001256715.2(DNAAF3):c.-72T>G
|
rs760790026
|
0.00003
|
|
NM_001256715.2(DNAAF3):c.1074C>T (p.Thr358=)
|
rs372671678
|
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.1164-8C>T
|
rs200920341
|
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.1491G>A (p.Leu497=)
|
rs1366437482
|
0.00003
|
|
NM_001256715.2(DNAAF3):c.155dup (p.Ser54fs)
|
rs745465871
|
0.00003
|
|
NM_001256715.2(DNAAF3):c.271A>G (p.Met91Val)
|
rs1181045345
|
0.00003
|
|
NM_001256715.2(DNAAF3):c.301C>T (p.Pro101Ser)
|
rs745672775
|
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.789+1G>C
|
rs770143722
|
0.00003
|
|
NM_001256715.2(DNAAF3):c.790-9C>T
|
rs374186955
|
0.00003
|
|
NM_001256715.2(DNAAF3):c.855C>T (p.Phe285=)
|
rs1011857328
|
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.*126G>A
|
rs192395057
|
0.00003
|
|
NM_001277115.2(DNAH11):c.10133T>C (p.Leu3378Ser)
|
rs372517354
|
0.00003
|
|
NM_001277115.2(DNAH11):c.10166-1G>C
|
rs1166330097
|
0.00003
|
|
NM_001277115.2(DNAH11):c.10332+8C>G
|
rs761592208
|
0.00003
|
|
NM_001277115.2(DNAH11):c.10333-19T>C
|
rs749865821
|
0.00003
|
|
NM_001277115.2(DNAH11):c.10431A>C (p.Arg3477Ser)
|
rs578086869
|
0.00003
|
|
NM_001277115.2(DNAH11):c.10441G>A (p.Glu3481Lys)
|
rs727502969
|
0.00003
|
|
NM_001277115.2(DNAH11):c.10450G>A (p.Ala3484Thr)
|
rs372745850
|
0.00003
|
|
NM_001277115.2(DNAH11):c.10471C>T (p.Arg3491Cys)
|
rs1162504533
|
0.00003
|
|
NM_001277115.2(DNAH11):c.10485G>A (p.Val3495=)
|
rs771238763
|
0.00003
|
|
NM_001277115.2(DNAH11):c.10530T>C (p.Tyr3510=)
|
rs377399710
|
0.00003
|
|
NM_001277115.2(DNAH11):c.105C>T (p.Leu35=)
|
rs1176978999
|
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.10831G>A (p.Gly3611Ser)
|
rs754717950
|
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.10897-15C>G
|
rs989818232
|
0.00003
|
|
NM_001277115.2(DNAH11):c.10967G>A (p.Arg3656His)
|
rs765797284
|
0.00003
|
|
NM_001277115.2(DNAH11):c.11074A>G (p.Lys3692Glu)
|
rs771958868
|
0.00003
|
|
NM_001277115.2(DNAH11):c.11097C>T (p.Asn3699=)
|
rs373865252
|
0.00003
|
|
NM_001277115.2(DNAH11):c.11110T>C (p.Cys3704Arg)
|
rs760659930
|
0.00003
|
|
NM_001277115.2(DNAH11):c.11158A>T (p.Asn3720Tyr)
|
rs780256359
|
0.00003
|
|
NM_001277115.2(DNAH11):c.11203-5C>T
|
rs767345006
|
0.00003
|
|
NM_001277115.2(DNAH11):c.11270T>A (p.Ile3757Asn)
|
rs751681171
|
0.00003
|
|
NM_001277115.2(DNAH11):c.1133A>C (p.Tyr378Ser)
|
rs375636554
|
0.00003
|
|
NM_001277115.2(DNAH11):c.11352C>A (p.Phe3784Leu)
|
rs553539918
|
0.00003
|
|
NM_001277115.2(DNAH11):c.11396T>C (p.Ile3799Thr)
|
rs745775917
|
0.00003
|
|
NM_001277115.2(DNAH11):c.11442C>T (p.His3814=)
|
rs370056975
|
0.00003
|
|
NM_001277115.2(DNAH11):c.11469A>C (p.Leu3823=)
|
rs776544602
|
0.00003
|
|
NM_001277115.2(DNAH11):c.11580C>T (p.Ser3860=)
|
rs376220318
|
0.00003
|
|
NM_001277115.2(DNAH11):c.11647C>T (p.Leu3883Phe)
|
rs779303486
|
0.00003
|
|
NM_001277115.2(DNAH11):c.11659A>G (p.Met3887Val)
|
rs72658811
|
0.00003
|
|
NM_001277115.2(DNAH11):c.11679G>A (p.Thr3893=)
|
rs568377103
|
0.00003
|
|
NM_001277115.2(DNAH11):c.11691-4A>G
|
rs376404379
|
0.00003
|
|
NM_001277115.2(DNAH11):c.11712G>C (p.Leu3904=)
|
rs761612271
|
0.00003
|
|
NM_001277115.2(DNAH11):c.11761G>A (p.Glu3921Lys)
|
rs774963422
|
0.00003
|
|
NM_001277115.2(DNAH11):c.11839+19C>T
|
rs746275154
|
0.00003
|
|
NM_001277115.2(DNAH11):c.11897A>T (p.Gln3966Leu)
|
rs777783731
|
0.00003
|
|
NM_001277115.2(DNAH11):c.11900G>T (p.Gly3967Val)
|
rs376276056
|
0.00003
|
|
NM_001277115.2(DNAH11):c.11968-9A>C
|
rs1018931263
|
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.12050G>A (p.Arg4017Lys)
|
rs375793461
|
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.12165T>A (p.Asn4055Lys)
|
rs776666835
|
0.00003
|
|
NM_001277115.2(DNAH11):c.12296C>G (p.Pro4099Arg)
|
rs573509767
|
0.00003
|
|
NM_001277115.2(DNAH11):c.12317A>T (p.Tyr4106Phe)
|
rs763870754
|
0.00003
|
|
NM_001277115.2(DNAH11):c.12336C>T (p.Asp4112=)
|
rs779489580
|
0.00003
|
|
NM_001277115.2(DNAH11):c.12363C>G (p.Tyr4121Ter)
|
rs121908855
|
0.00003
|
|
NM_001277115.2(DNAH11):c.12365A>G (p.Asn4122Ser)
|
rs375974800
|
0.00003
|
|
NM_001277115.2(DNAH11):c.12460C>T (p.Arg4154Cys)
|
rs755743542
|
0.00003
|
|
NM_001277115.2(DNAH11):c.12507+14A>C
|
rs768017430
|
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.12745G>A (p.Glu4249Lys)
|
rs747119409
|
0.00003
|
|
NM_001277115.2(DNAH11):c.12830A>G (p.Asn4277Ser)
|
rs766367430
|
0.00003
|
|
NM_001277115.2(DNAH11):c.1289T>C (p.Phe430Ser)
|
rs759050942
|
0.00003
|
|
NM_001277115.2(DNAH11):c.12979T>C (p.Leu4327=)
|
rs763079810
|
0.00003
|
|
NM_001277115.2(DNAH11):c.13203G>A (p.Leu4401=)
|
rs185924078
|
0.00003
|
|
NM_001277115.2(DNAH11):c.13214G>A (p.Arg4405His)
|
rs374415657
|
0.00003
|
|
NM_001277115.2(DNAH11):c.13272A>C (p.Glu4424Asp)
|
rs756254943
|
0.00003
|
|
NM_001277115.2(DNAH11):c.13351_13353del (p.Lys4451del)
|
rs552487543
|
0.00003
|
|
NM_001277115.2(DNAH11):c.13428C>T (p.Tyr4476=)
|
rs530934832
|
0.00003
|
|
NM_001277115.2(DNAH11):c.1426-15G>A
|
rs1293397448
|
0.00003
|
|
NM_001277115.2(DNAH11):c.1452T>G (p.Phe484Leu)
|
rs755256285
|
0.00003
|
|
NM_001277115.2(DNAH11):c.1573C>T (p.Pro525Ser)
|
rs200853274
|
0.00003
|
|
NM_001277115.2(DNAH11):c.1594-16A>T
|
rs1201977966
|
0.00003
|
|
NM_001277115.2(DNAH11):c.1671A>C (p.Glu557Asp)
|
rs764968620
|
0.00003
|
|
NM_001277115.2(DNAH11):c.1761T>G (p.Ile587Met)
|
rs751162929
|
0.00003
|
|
NM_001277115.2(DNAH11):c.1777A>G (p.Ser593Gly)
|
rs753701305
|
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.1814T>C (p.Val605Ala)
|
rs1474507652
|
0.00003
|
|
NM_001277115.2(DNAH11):c.1904T>C (p.Met635Thr)
|
rs759046686
|
0.00003
|
|
NM_001277115.2(DNAH11):c.1995C>T (p.His665=)
|
rs752831166
|
0.00003
|
|
NM_001277115.2(DNAH11):c.2015A>G (p.Tyr672Cys)
|
rs531579082
|
0.00003
|
|
NM_001277115.2(DNAH11):c.2060A>G (p.Tyr687Cys)
|
rs372935096
|
0.00003
|
|
NM_001277115.2(DNAH11):c.2084A>G (p.Asp695Gly)
|
rs548670757
|
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.2459C>T (p.Thr820Met)
|
rs561381811
|
0.00003
|
|
NM_001277115.2(DNAH11):c.2504A>G (p.Lys835Arg)
|
rs745305844
|
0.00003
|
|
NM_001277115.2(DNAH11):c.263A>G (p.Gln88Arg)
|
rs372762132
|
0.00003
|
|
NM_001277115.2(DNAH11):c.2668-14T>C
|
rs775720541
|
0.00003
|
|
NM_001277115.2(DNAH11):c.2803G>A (p.Glu935Lys)
|
rs1318144064
|
0.00003
|
|
NM_001277115.2(DNAH11):c.3134G>A (p.Arg1045Gln)
|
rs754350576
|
0.00003
|
|
NM_001277115.2(DNAH11):c.3236T>C (p.Leu1079Pro)
|
rs371800860
|
0.00003
|
|
NM_001277115.2(DNAH11):c.3375G>A (p.Lys1125=)
|
rs186676439
|
0.00003
|
|
NM_001277115.2(DNAH11):c.351+17A>G
|
rs936907548
|
0.00003
|
|
NM_001277115.2(DNAH11):c.3765+1G>A
|
rs766759197
|
0.00003
|
|
NM_001277115.2(DNAH11):c.3790A>G (p.Arg1264Gly)
|
rs749057056
|
0.00003
|
|
NM_001277115.2(DNAH11):c.4000A>G (p.Ile1334Val)
|
rs117965307
|
0.00003
|
|
NM_001277115.2(DNAH11):c.4012-16G>C
|
rs759797572
|
0.00003
|
|
NM_001277115.2(DNAH11):c.4046G>C (p.Arg1349Thr)
|
rs752074919
|
0.00003
|
|
NM_001277115.2(DNAH11):c.4126G>A (p.Val1376Ile)
|
rs531283952
|
0.00003
|
|
NM_001277115.2(DNAH11):c.4142C>T (p.Thr1381Met)
|
rs551195183
|
0.00003
|
|
NM_001277115.2(DNAH11):c.4254+8T>C
|
rs771512009
|
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.4377+12G>A
|
rs763325413
|
0.00003
|
|
NM_001277115.2(DNAH11):c.4381A>G (p.Ile1461Val)
|
rs775456789
|
0.00003
|
|
NM_001277115.2(DNAH11):c.4438C>T (p.Arg1480Ter)
|
rs72657321
|
0.00003
|
|
NM_001277115.2(DNAH11):c.4477T>C (p.Phe1493Leu)
|
rs1046915773
|
0.00003
|
|
NM_001277115.2(DNAH11):c.4539A>G (p.Glu1513=)
|
rs572309789
|
0.00003
|
|
NM_001277115.2(DNAH11):c.4815C>T (p.Ser1605=)
|
rs752967417
|
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.4920C>T (p.Leu1640=)
|
rs746563330
|
0.00003
|
|
NM_001277115.2(DNAH11):c.4926A>C (p.Lys1642Asn)
|
rs770520414
|
0.00003
|
|
NM_001277115.2(DNAH11):c.4944+16A>G
|
rs773265484
|
0.00003
|
|
NM_001277115.2(DNAH11):c.4944+9T>G
|
rs772306572
|
0.00003
|
|
NM_001277115.2(DNAH11):c.495+11G>A
|
rs1317549312
|
0.00003
|
|
NM_001277115.2(DNAH11):c.495+20A>G
|
rs1216668300
|
0.00003
|
|
NM_001277115.2(DNAH11):c.496-12C>G
|
rs375199104
|
0.00003
|
|
NM_001277115.2(DNAH11):c.496A>G (p.Ile166Val)
|
rs188162506
|
0.00003
|
|
NM_001277115.2(DNAH11):c.4971C>T (p.Phe1657=)
|
rs375997343
|
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.5073C>T (p.Ala1691=)
|
rs765738722
|
0.00003
|
|
NM_001277115.2(DNAH11):c.5155A>G (p.Thr1719Ala)
|
rs369965539
|
0.00003
|
|
NM_001277115.2(DNAH11):c.5172C>G (p.Ala1724=)
|
rs778238497
|
0.00003
|
|
NM_001277115.2(DNAH11):c.5190G>A (p.Arg1730=)
|
rs1343191409
|
0.00003
|
|
NM_001277115.2(DNAH11):c.5226A>C (p.Ala1742=)
|
rs774296971
|
0.00003
|
|
NM_001277115.2(DNAH11):c.5241A>G (p.Gln1747=)
|
rs372802443
|
0.00003
|
|
NM_001277115.2(DNAH11):c.5302G>A (p.Ala1768Thr)
|
rs1394237501
|
0.00003
|
|
NM_001277115.2(DNAH11):c.534G>A (p.Lys178=)
|
rs780824176
|
0.00003
|
|
NM_001277115.2(DNAH11):c.5368G>T (p.Glu1790Ter)
|
rs1164659091
|
0.00003
|
|
NM_001277115.2(DNAH11):c.5461-19G>T
|
rs371054687
|
0.00003
|
|
NM_001277115.2(DNAH11):c.5621+18C>A
|
rs796276616
|
0.00003
|
|
NM_001277115.2(DNAH11):c.5789A>G (p.Asn1930Ser)
|
rs368502112
|
0.00003
|
|
NM_001277115.2(DNAH11):c.579A>G (p.Glu193=)
|
rs534397062
|
0.00003
|
|
NM_001277115.2(DNAH11):c.5843A>G (p.Asn1948Ser)
|
rs754385182
|
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.5947A>T (p.Ile1983Phe)
|
rs536513593
|
0.00003
|
|
NM_001277115.2(DNAH11):c.6066C>T (p.Asp2022=)
|
rs1375746789
|
0.00003
|
|
NM_001277115.2(DNAH11):c.6087C>G (p.Ile2029Met)
|
rs1434998550
|
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.6375T>C (p.Asp2125=)
|
rs762289514
|
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.6513T>C (p.Phe2171=)
|
rs377635623
|
0.00003
|
|
NM_001277115.2(DNAH11):c.654A>G (p.Ala218=)
|
rs1202784818
|
0.00003
|
|
NM_001277115.2(DNAH11):c.6573T>C (p.Tyr2191=)
|
rs368278745
|
0.00003
|
|
NM_001277115.2(DNAH11):c.6577A>C (p.Asn2193His)
|
rs755523883
|
0.00003
|
|
NM_001277115.2(DNAH11):c.6583A>G (p.Lys2195Glu)
|
rs371974305
|
0.00003
|
|
NM_001277115.2(DNAH11):c.6665G>A (p.Arg2222Gln)
|
rs376900363
|
0.00003
|
|
NM_001277115.2(DNAH11):c.6835-8C>T
|
rs763888824
|
0.00003
|
|
NM_001277115.2(DNAH11):c.68C>T (p.Ser23Leu)
|
rs745842220
|
0.00003
|
|
NM_001277115.2(DNAH11):c.692+4C>T
|
rs762352605
|
0.00003
|
|
NM_001277115.2(DNAH11):c.6931G>C (p.Val2311Leu)
|
rs781667145
|
0.00003
|
|
NM_001277115.2(DNAH11):c.6983+18T>G
|
rs765504524
|
0.00003
|
|
NM_001277115.2(DNAH11):c.6983+9_6983+10insCCACGGAGTGGAA
|
rs746839743
|
0.00003
|
|
NM_001277115.2(DNAH11):c.6984-18T>C
|
rs775832097
|
0.00003
|
|
NM_001277115.2(DNAH11):c.6984G>T (p.Pro2328=)
|
rs761918179
|
0.00003
|
|
NM_001277115.2(DNAH11):c.7012C>T (p.Arg2338Trp)
|
rs752212501
|
0.00003
|
|
NM_001277115.2(DNAH11):c.7055A>T (p.Lys2352Ile)
|
rs769003282
|
0.00003
|
|
NM_001277115.2(DNAH11):c.7126C>T (p.Leu2376=)
|
rs549049467
|
0.00003
|
|
NM_001277115.2(DNAH11):c.7134+11G>A
|
rs781116115
|
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.7388C>T (p.Pro2463Leu)
|
rs375153180
|
0.00003
|
|
NM_001277115.2(DNAH11):c.7450G>A (p.Val2484Ile)
|
rs572118148
|
0.00003
|
|
NM_001277115.2(DNAH11):c.7560A>C (p.Val2520=)
|
rs765582248
|
0.00003
|
|
NM_001277115.2(DNAH11):c.7569A>G (p.Thr2523=)
|
rs763185094
|
0.00003
|
|
NM_001277115.2(DNAH11):c.7594A>G (p.Ile2532Val)
|
rs752203815
|
0.00003
|
|
NM_001277115.2(DNAH11):c.7646-20G>C
|
rs759829173
|
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.7787G>A (p.Arg2596Gln)
|
rs780492669
|
0.00003
|
|
NM_001277115.2(DNAH11):c.7812-9G>T
|
rs1224929153
|
0.00003
|
|
NM_001277115.2(DNAH11):c.7827G>A (p.Lys2609=)
|
rs376714073
|
0.00003
|
|
NM_001277115.2(DNAH11):c.7850A>G (p.Asn2617Ser)
|
rs370223017
|
0.00003
|
|
NM_001277115.2(DNAH11):c.7952T>C (p.Leu2651Ser)
|
rs780002349
|
0.00003
|
|
NM_001277115.2(DNAH11):c.8007A>G (p.Gln2669=)
|
rs542279983
|
0.00003
|
|
NM_001277115.2(DNAH11):c.8019A>G (p.Pro2673=)
|
rs762237613
|
0.00003
|
|
NM_001277115.2(DNAH11):c.8045T>G (p.Leu2682Trp)
|
rs990453651
|
0.00003
|
|
NM_001277115.2(DNAH11):c.8076A>G (p.Thr2692=)
|
rs781605658
|
0.00003
|
|
NM_001277115.2(DNAH11):c.8100G>A (p.Thr2700=)
|
rs72657365
|
0.00003
|
|
NM_001277115.2(DNAH11):c.8215C>G (p.Leu2739Val)
|
rs761798023
|
0.00003
|
|
NM_001277115.2(DNAH11):c.8247A>G (p.Lys2749=)
|
rs367806628
|
0.00003
|
|
NM_001277115.2(DNAH11):c.8258A>G (p.Lys2753Arg)
|
rs761852954
|
0.00003
|
|
NM_001277115.2(DNAH11):c.825A>G (p.Gln275=)
|
rs371923630
|
0.00003
|
|
NM_001277115.2(DNAH11):c.8317-12C>T
|
rs777296612
|
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.8442G>A (p.Thr2814=)
|
rs865937855
|
0.00003
|
|
NM_001277115.2(DNAH11):c.8516G>A (p.Arg2839His)
|
rs1253630975
|
0.00003
|
|
NM_001277115.2(DNAH11):c.8647G>A (p.Glu2883Lys)
|
rs752605468
|
0.00003
|
|
NM_001277115.2(DNAH11):c.8706A>G (p.Gly2902=)
|
rs1786319541
|
0.00003
|
|
NM_001277115.2(DNAH11):c.8941-12A>T
|
rs886038475
|
0.00003
|
|
NM_001277115.2(DNAH11):c.8989C>T (p.Arg2997Trp)
|
rs371680752
|
0.00003
|
|
NM_001277115.2(DNAH11):c.9063C>T (p.Ser3021=)
|
rs368820581
|
0.00003
|
|
NM_001277115.2(DNAH11):c.9064G>A (p.Val3022Ile)
|
rs757486099
|
0.00003
|
|
NM_001277115.2(DNAH11):c.9303C>T (p.Asn3101=)
|
rs375713138
|
0.00003
|
|
NM_001277115.2(DNAH11):c.9306C>T (p.Gly3102=)
|
rs369831641
|
0.00003
|
|
NM_001277115.2(DNAH11):c.9403G>A (p.Glu3135Lys)
|
rs777605062
|
0.00003
|
|
NM_001277115.2(DNAH11):c.9423C>T (p.Ile3141=)
|
rs770042297
|
0.00003
|
|
NM_001277115.2(DNAH11):c.9484-10C>T
|
rs775144326
|
0.00003
|
|
NM_001277115.2(DNAH11):c.9707G>A (p.Arg3236Gln)
|
rs758030856
|
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_001277115.2(DNAH11):c.9961G>A (p.Ala3321Thr)
|
rs755192124
|
0.00003
|
|
NM_001364171.2(ODAD1):c.1072-20A>G
|
rs370945527
|
0.00003
|
|
NM_001364171.2(ODAD1):c.1095A>C (p.Ala365=)
|
rs772867955
|
0.00003
|
|
NM_001364171.2(ODAD1):c.1241-17G>A
|
rs974997306
|
0.00003
|
|
NM_001364171.2(ODAD1):c.1273G>A (p.Asp425Asn)
|
rs560134827
|
0.00003
|
|
NM_001364171.2(ODAD1):c.1404+10G>A
|
rs371519705
|
0.00003
|
|
NM_001364171.2(ODAD1):c.1581+4A>G
|
rs759409470
|
0.00003
|
|
NM_001364171.2(ODAD1):c.1613G>A (p.Arg538His)
|
rs749435831
|
0.00003
|
|
NM_001364171.2(ODAD1):c.1629C>T (p.Ala543=)
|
rs755014432
|
0.00003
|
|
NM_001364171.2(ODAD1):c.1635C>T (p.Ala545=)
|
rs758221101
|
0.00003
|
|
NM_001364171.2(ODAD1):c.1800C>T (p.Gly600=)
|
rs570425201
|
0.00003
|
|
NM_001364171.2(ODAD1):c.1926C>T (p.Ser642=)
|
rs548035108
|
0.00003
|
|
NM_001364171.2(ODAD1):c.1994G>C (p.Gly665Ala)
|
rs750920206
|
0.00003
|
|
NM_001364171.2(ODAD1):c.205G>A (p.Asp69Asn)
|
rs1342144946
|
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.598-2A>G
|
rs606231239
|
0.00003
|
|
NM_001364171.2(ODAD1):c.661G>A (p.Val221Ile)
|
rs769301117
|
0.00003
|
|
NM_001364171.2(ODAD1):c.812G>A (p.Arg271Gln)
|
rs776898770
|
0.00003
|
|
NM_001364171.2(ODAD1):c.912C>T (p.Tyr304=)
|
rs376419237
|
0.00003
|
|
NM_001369.3(DNAH5):c.10074T>C (p.Thr3358=)
|
rs375557733
|
0.00003
|
|
NM_001369.3(DNAH5):c.10192C>T (p.Arg3398Cys)
|
rs147882360
|
0.00003
|
|
NM_001369.3(DNAH5):c.10230G>A (p.Thr3410=)
|
rs765000004
|
0.00003
|
|
NM_001369.3(DNAH5):c.10240G>T (p.Ala3414Ser)
|
rs138951581
|
0.00003
|
|
NM_001369.3(DNAH5):c.10282G>A (p.Ala3428Thr)
|
rs760220268
|
0.00003
|
|
NM_001369.3(DNAH5):c.10348G>A (p.Glu3450Lys)
|
rs758739748
|
0.00003
|
|
NM_001369.3(DNAH5):c.10368G>A (p.Ala3456=)
|
rs767316134
|
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.10555+15T>C
|
rs766885133
|
0.00003
|
|
NM_001369.3(DNAH5):c.10584A>G (p.Leu3528=)
|
rs765951022
|
0.00003
|
|
NM_001369.3(DNAH5):c.10615C>T (p.Arg3539Cys)
|
rs1304504006
|
0.00003
|
|
NM_001369.3(DNAH5):c.10640G>A (p.Arg3547Gln)
|
rs779977337
|
0.00003
|
|
NM_001369.3(DNAH5):c.10774A>C (p.Ile3592Leu)
|
rs758395320
|
0.00003
|
|
NM_001369.3(DNAH5):c.10784C>T (p.Thr3595Met)
|
rs886043929
|
0.00003
|
|
NM_001369.3(DNAH5):c.10873-8G>A
|
rs775390566
|
0.00003
|
|
NM_001369.3(DNAH5):c.1089C>T (p.Pro363=)
|
rs763797137
|
0.00003
|
|
NM_001369.3(DNAH5):c.11129G>A (p.Arg3710His)
|
rs954286214
|
0.00003
|
|
NM_001369.3(DNAH5):c.11228G>T (p.Arg3743Ile)
|
rs774599183
|
0.00003
|
|
NM_001369.3(DNAH5):c.11357G>A (p.Ser3786Asn)
|
rs777928542
|
0.00003
|
|
NM_001369.3(DNAH5):c.11438G>A (p.Arg3813Gln)
|
rs143612682
|
0.00003
|
|
NM_001369.3(DNAH5):c.11463G>A (p.Thr3821=)
|
rs200744540
|
0.00003
|
|
NM_001369.3(DNAH5):c.11464C>T (p.Arg3822Trp)
|
rs746375013
|
0.00003
|
|
NM_001369.3(DNAH5):c.11501G>A (p.Arg3834His)
|
rs139914691
|
0.00003
|
|
NM_001369.3(DNAH5):c.11528C>T (p.Ser3843Leu)
|
rs78346432
|
0.00003
|
|
NM_001369.3(DNAH5):c.11533C>T (p.Arg3845Cys)
|
rs565819640
|
0.00003
|
|
NM_001369.3(DNAH5):c.11570+15G>A
|
rs749967007
|
0.00003
|
|
NM_001369.3(DNAH5):c.11571-4C>T
|
rs758068700
|
0.00003
|
|
NM_001369.3(DNAH5):c.11571-9A>G
|
rs779715252
|
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.11614A>T (p.Ile3872Phe)
|
rs572139897
|
0.00003
|
|
NM_001369.3(DNAH5):c.11735A>G (p.His3912Arg)
|
rs773929052
|
0.00003
|
|
NM_001369.3(DNAH5):c.11801C>G (p.Pro3934Arg)
|
rs767772143
|
0.00003
|
|
NM_001369.3(DNAH5):c.11883+10C>T
|
rs753140220
|
0.00003
|
|
NM_001369.3(DNAH5):c.11888C>T (p.Ser3963Leu)
|
rs191057833
|
0.00003
|
|
NM_001369.3(DNAH5):c.11940G>A (p.Glu3980=)
|
rs377018163
|
0.00003
|
|
NM_001369.3(DNAH5):c.12037C>T (p.Arg4013Cys)
|
rs148349630
|
0.00003
|
|
NM_001369.3(DNAH5):c.12048C>T (p.Ile4016=)
|
rs375133229
|
0.00003
|
|
NM_001369.3(DNAH5):c.12075C>T (p.Ala4025=)
|
rs761519239
|
0.00003
|
|
NM_001369.3(DNAH5):c.1207C>A (p.Gln403Lys)
|
rs146886532
|
0.00003
|
|
NM_001369.3(DNAH5):c.12209C>T (p.Thr4070Ile)
|
rs746662023
|
0.00003
|
|
NM_001369.3(DNAH5):c.12225G>C (p.Met4075Ile)
|
rs369201727
|
0.00003
|
|
NM_001369.3(DNAH5):c.12234C>T (p.Gly4078=)
|
rs886059967
|
0.00003
|
|
NM_001369.3(DNAH5):c.12276G>A (p.Ala4092=)
|
rs763359823
|
0.00003
|
|
NM_001369.3(DNAH5):c.12279C>T (p.Asn4093=)
|
rs572468560
|
0.00003
|
|
NM_001369.3(DNAH5):c.12280-9T>C
|
rs759095389
|
0.00003
|
|
NM_001369.3(DNAH5):c.12374C>T (p.Ala4125Val)
|
rs370757783
|
0.00003
|
|
NM_001369.3(DNAH5):c.12380G>A (p.Arg4127His)
|
rs762555871
|
0.00003
|
|
NM_001369.3(DNAH5):c.12414T>C (p.Phe4138=)
|
rs754273700
|
0.00003
|
|
NM_001369.3(DNAH5):c.12499+9A>T
|
rs756789950
|
0.00003
|
|
NM_001369.3(DNAH5):c.12579C>G (p.Ser4193=)
|
rs2126509340
|
0.00003
|
|
NM_001369.3(DNAH5):c.12646G>A (p.Asp4216Asn)
|
rs768917457
|
0.00003
|
|
NM_001369.3(DNAH5):c.12705+16C>T
|
rs370688558
|
0.00003
|
|
NM_001369.3(DNAH5):c.12727C>T (p.Arg4243Cys)
|
rs150357258
|
0.00003
|
|
NM_001369.3(DNAH5):c.13026G>A (p.Lys4342=)
|
rs369372511
|
0.00003
|
|
NM_001369.3(DNAH5):c.13065G>C (p.Val4355=)
|
rs372488592
|
0.00003
|
|
NM_001369.3(DNAH5):c.13068G>A (p.Val4356=)
|
rs141961399
|
0.00003
|
|
NM_001369.3(DNAH5):c.13123G>A (p.Glu4375Lys)
|
rs955768429
|
0.00003
|
|
NM_001369.3(DNAH5):c.13485G>A (p.Met4495Ile)
|
rs1424487626
|
0.00003
|
|
NM_001369.3(DNAH5):c.13492-11G>T
|
rs749125197
|
0.00003
|
|
NM_001369.3(DNAH5):c.13675G>T (p.Val4559Leu)
|
rs751090601
|
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.13843C>T (p.Arg4615Cys)
|
rs771613197
|
0.00003
|
|
NM_001369.3(DNAH5):c.1419C>T (p.Phe473=)
|
rs373172723
|
0.00003
|
|
NM_001369.3(DNAH5):c.1537-10A>T
|
rs777597757
|
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.192+7T>A
|
rs1210630945
|
0.00003
|
|
NM_001369.3(DNAH5):c.2054T>C (p.Ile685Thr)
|
rs1413135619
|
0.00003
|
|
NM_001369.3(DNAH5):c.2260-19A>C
|
rs764140277
|
0.00003
|
|
NM_001369.3(DNAH5):c.2578G>A (p.Asp860Asn)
|
rs1180383607
|
0.00003
|
|
NM_001369.3(DNAH5):c.2723A>G (p.Asn908Ser)
|
rs146576780
|
0.00003
|
|
NM_001369.3(DNAH5):c.2816C>T (p.Thr939Met)
|
rs769689167
|
0.00003
|
|
NM_001369.3(DNAH5):c.2868C>T (p.Arg956=)
|
rs767246326
|
0.00003
|
|
NM_001369.3(DNAH5):c.291T>C (p.Ser97=)
|
rs777683929
|
0.00003
|
|
NM_001369.3(DNAH5):c.2963C>T (p.Ser988Phe)
|
rs1040668411
|
0.00003
|
|
NM_001369.3(DNAH5):c.3063C>T (p.Ile1021=)
|
rs555934422
|
0.00003
|
|
NM_001369.3(DNAH5):c.3098C>A (p.Thr1033Asn)
|
rs762101328
|
0.00003
|
|
NM_001369.3(DNAH5):c.3175-7A>G
|
rs377328398
|
0.00003
|
|
NM_001369.3(DNAH5):c.3383A>G (p.Asn1128Ser)
|
rs964181737
|
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.3676C>T (p.Arg1226Trp)
|
rs146689446
|
0.00003
|
|
NM_001369.3(DNAH5):c.38G>A (p.Ser13Asn)
|
rs747161968
|
0.00003
|
|
NM_001369.3(DNAH5):c.3905del (p.Leu1302fs)
|
rs754698253
|
0.00003
|
|
NM_001369.3(DNAH5):c.402C>T (p.Asp134=)
|
rs1436861240
|
0.00003
|
|
NM_001369.3(DNAH5):c.4072G>A (p.Gly1358Ser)
|
rs752638332
|
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.4319A>C (p.Glu1440Ala)
|
rs147322363
|
0.00003
|
|
NM_001369.3(DNAH5):c.4355+5G>A
|
rs774366812
|
0.00003
|
|
NM_001369.3(DNAH5):c.4384G>T (p.Asp1462Tyr)
|
rs1189846120
|
0.00003
|
|
NM_001369.3(DNAH5):c.4574T>G (p.Leu1525Arg)
|
rs749792446
|
0.00003
|
|
NM_001369.3(DNAH5):c.4597-19G>C
|
rs370235912
|
0.00003
|
|
NM_001369.3(DNAH5):c.4629C>T (p.Asp1543=)
|
rs149049465
|
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.4730G>A (p.Ser1577Asn)
|
rs1292394284
|
0.00003
|
|
NM_001369.3(DNAH5):c.476G>T (p.Gly159Val)
|
rs185219431
|
0.00003
|
|
NM_001369.3(DNAH5):c.4779A>G (p.Gly1593=)
|
rs766342038
|
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.5256C>G (p.Val1752=)
|
rs375664100
|
0.00003
|
|
NM_001369.3(DNAH5):c.5282G>A (p.Arg1761Gln)
|
rs774020682
|
0.00003
|
|
NM_001369.3(DNAH5):c.5323T>C (p.Leu1775=)
|
rs751794427
|
0.00003
|
|
NM_001369.3(DNAH5):c.532G>A (p.Ala178Thr)
|
rs781356156
|
0.00003
|
|
NM_001369.3(DNAH5):c.535A>G (p.Thr179Ala)
|
rs755082450
|
0.00003
|
|
NM_001369.3(DNAH5):c.5398T>C (p.Leu1800=)
|
rs201266962
|
0.00003
|
|
NM_001369.3(DNAH5):c.5472C>T (p.Ser1824=)
|
rs372046349
|
0.00003
|
|
NM_001369.3(DNAH5):c.5503C>T (p.Gln1835Ter)
|
rs761622153
|
0.00003
|
|
NM_001369.3(DNAH5):c.5647C>T (p.Arg1883Ter)
|
rs575017579
|
0.00003
|
|
NM_001369.3(DNAH5):c.5710-2A>G
|
rs548521732
|
0.00003
|
|
NM_001369.3(DNAH5):c.5735T>C (p.Met1912Thr)
|
rs146106154
|
0.00003
|
|
NM_001369.3(DNAH5):c.586C>T (p.Arg196Cys)
|
rs200314274
|
0.00003
|
|
NM_001369.3(DNAH5):c.5970T>C (p.Thr1990=)
|
rs767150989
|
0.00003
|
|
NM_001369.3(DNAH5):c.6026A>G (p.Gln2009Arg)
|
rs561922486
|
0.00003
|
|
NM_001369.3(DNAH5):c.6062-5C>T
|
rs766043540
|
0.00003
|
|
NM_001369.3(DNAH5):c.6109A>G (p.Ile2037Val)
|
rs200551639
|
0.00003
|
|
NM_001369.3(DNAH5):c.6217A>G (p.Met2073Val)
|
rs752077073
|
0.00003
|
|
NM_001369.3(DNAH5):c.6411C>T (p.Leu2137=)
|
rs776835360
|
0.00003
|
|
NM_001369.3(DNAH5):c.6444+1G>A
|
rs781236248
|
0.00003
|
|
NM_001369.3(DNAH5):c.6492C>T (p.Thr2164=)
|
rs1020749137
|
0.00003
|
|
NM_001369.3(DNAH5):c.6515A>G (p.Asn2172Ser)
|
rs760155330
|
0.00003
|
|
NM_001369.3(DNAH5):c.6579+8T>G
|
rs763394193
|
0.00003
|
|
NM_001369.3(DNAH5):c.660+10A>G
|
rs750383077
|
0.00003
|
|
NM_001369.3(DNAH5):c.6664C>A (p.Leu2222Met)
|
rs144719798
|
0.00003
|
|
NM_001369.3(DNAH5):c.6672A>G (p.Ala2224=)
|
rs1060504236
|
0.00003
|
|
NM_001369.3(DNAH5):c.6859C>T (p.Arg2287Trp)
|
rs747326567
|
0.00003
|
|
NM_001369.3(DNAH5):c.6885G>A (p.Ala2295=)
|
rs762437869
|
0.00003
|
|
NM_001369.3(DNAH5):c.6988+13T>C
|
rs770478766
|
0.00003
|
|
NM_001369.3(DNAH5):c.7167C>T (p.Thr2389=)
|
rs377435331
|
0.00003
|
|
NM_001369.3(DNAH5):c.7288G>A (p.Glu2430Lys)
|
rs575491117
|
0.00003
|
|
NM_001369.3(DNAH5):c.7407+4A>C
|
rs1313931851
|
0.00003
|
|
NM_001369.3(DNAH5):c.741T>C (p.Pro247=)
|
rs374902528
|
0.00003
|
|
NM_001369.3(DNAH5):c.7609+7A>G
|
rs572123950
|
0.00003
|
|
NM_001369.3(DNAH5):c.7688T>G (p.Leu2563Arg)
|
rs187551830
|
0.00003
|
|
NM_001369.3(DNAH5):c.7823A>T (p.Asp2608Val)
|
rs189971831
|
0.00003
|
|
NM_001369.3(DNAH5):c.7893G>A (p.Thr2631=)
|
rs371810104
|
0.00003
|
|
NM_001369.3(DNAH5):c.7987A>G (p.Ile2663Val)
|
rs113576049
|
0.00003
|
|
NM_001369.3(DNAH5):c.8006A>T (p.Asp2669Val)
|
rs770090882
|
0.00003
|
|
NM_001369.3(DNAH5):c.8011-18G>A
|
rs200005285
|
0.00003
|
|
NM_001369.3(DNAH5):c.8085C>G (p.Thr2695=)
|
rs147427207
|
0.00003
|
|
NM_001369.3(DNAH5):c.8086A>G (p.Ser2696Gly)
|
rs761980501
|
0.00003
|
|
NM_001369.3(DNAH5):c.8099T>C (p.Ile2700Thr)
|
rs760739660
|
0.00003
|
|
NM_001369.3(DNAH5):c.8190G>A (p.Thr2730=)
|
rs752656841
|
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.8448+11C>T
|
rs768853183
|
0.00003
|
|
NM_001369.3(DNAH5):c.8600T>A (p.Ile2867Asn)
|
rs572852817
|
0.00003
|
|
NM_001369.3(DNAH5):c.8647+5A>C
|
rs748450478
|
0.00003
|
|
NM_001369.3(DNAH5):c.8726G>A (p.Arg2909His)
|
rs756069405
|
0.00003
|
|
NM_001369.3(DNAH5):c.8772C>T (p.Ala2924=)
|
rs552458966
|
0.00003
|
|
NM_001369.3(DNAH5):c.8821-16C>T
|
rs539860726
|
0.00003
|
|
NM_001369.3(DNAH5):c.8821-7A>G
|
rs776228125
|
0.00003
|
|
NM_001369.3(DNAH5):c.8925C>T (p.Tyr2975=)
|
rs755490391
|
0.00003
|
|
NM_001369.3(DNAH5):c.8951+18T>C
|
rs570510824
|
0.00003
|
|
NM_001369.3(DNAH5):c.9128A>T (p.Asp3043Val)
|
rs759475605
|
0.00003
|
|
NM_001369.3(DNAH5):c.9374-8C>G
|
rs770720842
|
0.00003
|
|
NM_001369.3(DNAH5):c.9400G>A (p.Asp3134Asn)
|
rs1038976235
|
0.00003
|
|
NM_001369.3(DNAH5):c.9472G>A (p.Glu3158Lys)
|
rs933970590
|
0.00003
|
|
NM_001369.3(DNAH5):c.9516C>T (p.His3172=)
|
rs1452202315
|
0.00003
|
|
NM_001369.3(DNAH5):c.9517G>A (p.Val3173Met)
|
rs552782157
|
0.00003
|
|
NM_001369.3(DNAH5):c.9561C>T (p.Phe3187=)
|
rs761332828
|
0.00003
|
|
NM_001369.3(DNAH5):c.9590G>A (p.Arg3197Gln)
|
rs573476401
|
0.00003
|
|
NM_001369.3(DNAH5):c.9706G>A (p.Asp3236Asn)
|
rs374206128
|
0.00003
|
|
NM_001369.3(DNAH5):c.975+19T>C
|
rs764847245
|
0.00003
|
|
NM_001369.3(DNAH5):c.9761A>G (p.Lys3254Arg)
|
rs1192675703
|
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.9845A>G (p.Glu3282Gly)
|
rs1752912606
|
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.1156G>A (p.Val386Ile)
|
rs565923150
|
0.00003
|
|
NM_012144.4(DNAI1):c.119A>G (p.Asp40Gly)
|
rs553371109
|
0.00003
|
|
NM_012144.4(DNAI1):c.1209C>T (p.His403=)
|
rs1410435356
|
0.00003
|
|
NM_012144.4(DNAI1):c.1222G>A (p.Val408Met)
|
rs794727103
|
0.00003
|
|
NM_012144.4(DNAI1):c.1489+12A>G
|
rs201573269
|
0.00003
|
|
NM_012144.4(DNAI1):c.1489+13G>A
|
rs570565586
|
0.00003
|
|
NM_012144.4(DNAI1):c.1543G>A (p.Gly515Ser)
|
rs79833450
|
0.00003
|
|
NM_012144.4(DNAI1):c.1569+18C>T
|
rs747015597
|
0.00003
|
|
NM_012144.4(DNAI1):c.1574C>G (p.Ser525Cys)
|
rs372818966
|
0.00003
|
|
NM_012144.4(DNAI1):c.1599C>T (p.Leu533=)
|
rs150785761
|
0.00003
|
|
NM_012144.4(DNAI1):c.1703G>C (p.Trp568Ser)
|
rs772686744
|
0.00003
|
|
NM_012144.4(DNAI1):c.1752C>T (p.Ala584=)
|
rs374753474
|
0.00003
|
|
NM_012144.4(DNAI1):c.1773G>A (p.Ala591=)
|
rs547499630
|
0.00003
|
|
NM_012144.4(DNAI1):c.1818+12C>T
|
rs770963117
|
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.338A>G (p.Lys113Arg)
|
rs367903999
|
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.501+16G>A
|
rs373496626
|
0.00003
|
|
NM_012144.4(DNAI1):c.503C>A (p.Ala168Glu)
|
rs143015286
|
0.00003
|
|
NM_012144.4(DNAI1):c.633C>T (p.Cys211=)
|
rs1021425002
|
0.00003
|
|
NM_012144.4(DNAI1):c.805A>G (p.Met269Val)
|
rs374387905
|
0.00003
|
|
NM_012144.4(DNAI1):c.816+12G>A
|
rs367663319
|
0.00003
|
|
NM_012144.4(DNAI1):c.902-15C>T
|
rs373836235
|
0.00003
|
|
NM_012144.4(DNAI1):c.903T>G (p.Asp301Glu)
|
rs527254975
|
0.00003
|
|
NM_012144.4(DNAI1):c.912C>G (p.Tyr304Ter)
|
rs878854968
|
0.00003
|
|
NM_012144.4(DNAI1):c.945G>A (p.Gln315=)
|
rs776390032
|
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_015512.5(DNAH1):c.12143del (p.Ala4048fs)
|
rs746049858
|
0.00003
|
|
NM_015896.4(ZMYND10):c.1137C>T (p.Tyr379=)
|
rs369966018
|
0.00003
|
|
NM_015896.4(ZMYND10):c.1155G>A (p.Glu385=)
|
rs764859275
|
0.00003
|
|
NM_015896.4(ZMYND10):c.1177C>T (p.Arg393Cys)
|
rs587740488
|
0.00003
|
|
NM_015896.4(ZMYND10):c.1281A>G (p.Gly427=)
|
rs1417662028
|
0.00003
|
|
NM_015896.4(ZMYND10):c.490C>T (p.Gln164Ter)
|
rs376314608
|
0.00003
|
|
NM_015896.4(ZMYND10):c.510+1G>A
|
rs373312648
|
0.00003
|
|
NM_015896.4(ZMYND10):c.601C>T (p.Leu201Phe)
|
rs770913452
|
0.00003
|
|
NM_015896.4(ZMYND10):c.622C>T (p.Arg208Cys)
|
rs769848204
|
0.00003
|
|
NM_015896.4(ZMYND10):c.691C>T (p.Arg231Trp)
|
rs762889922
|
0.00003
|
|
NM_015896.4(ZMYND10):c.724A>G (p.Ser242Gly)
|
rs761674579
|
0.00003
|
|
NM_015896.4(ZMYND10):c.832C>T (p.Arg278Cys)
|
rs372975420
|
0.00003
|
|
NM_015896.4(ZMYND10):c.93-11C>T
|
rs780389451
|
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.1025-7G>A
|
rs748574039
|
0.00003
|
|
NM_017802.4(DNAAF5):c.1027C>T (p.Arg343Cys)
|
rs773921234
|
0.00003
|
|
NM_017802.4(DNAAF5):c.1083C>T (p.Leu361=)
|
rs139756611
|
0.00003
|
|
NM_017802.4(DNAAF5):c.1131G>T (p.Val377=)
|
rs151119269
|
0.00003
|
|
NM_017802.4(DNAAF5):c.1177C>T (p.His393Tyr)
|
rs768907625
|
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.1281C>T (p.Val427=)
|
rs749052581
|
0.00003
|
|
NM_017802.4(DNAAF5):c.129G>A (p.Lys43=)
|
rs1039124490
|
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.1582G>T (p.Ala528Ser)
|
rs747552520
|
0.00003
|
|
NM_017802.4(DNAAF5):c.1626G>A (p.Thr542=)
|
rs368538461
|
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.1931+9G>A
|
rs1420895716
|
0.00003
|
|
NM_017802.4(DNAAF5):c.1932-14C>T
|
rs200287042
|
0.00003
|
|
NM_017802.4(DNAAF5):c.1950C>G (p.Leu650=)
|
rs755182384
|
0.00003
|
|
NM_017802.4(DNAAF5):c.1959G>A (p.Val653=)
|
rs1583517339
|
0.00003
|
|
NM_017802.4(DNAAF5):c.2024C>T (p.Thr675Met)
|
rs757110526
|
0.00003
|
|
NM_017802.4(DNAAF5):c.2067C>T (p.Val689=)
|
rs773579132
|
0.00003
|
|
NM_017802.4(DNAAF5):c.2075C>T (p.Ala692Val)
|
rs759671132
|
0.00003
|
|
NM_017802.4(DNAAF5):c.210G>A (p.Gln70=)
|
rs924325564
|
0.00003
|
|
NM_017802.4(DNAAF5):c.2151G>C (p.Thr717=)
|
rs199762403
|
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.22G>C (p.Glu8Gln)
|
rs1337745093
|
0.00003
|
|
NM_017802.4(DNAAF5):c.2324A>G (p.Lys775Arg)
|
rs574013110
|
0.00003
|
|
NM_017802.4(DNAAF5):c.238C>T (p.Arg80Cys)
|
rs928452266
|
0.00003
|
|
NM_017802.4(DNAAF5):c.2397C>T (p.Asp799=)
|
rs761873627
|
0.00003
|
|
NM_017802.4(DNAAF5):c.2431+10C>T
|
rs758947084
|
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_017802.4(DNAAF5):c.615G>A (p.Ser205=)
|
rs970435228
|
0.00003
|
|
NM_017802.4(DNAAF5):c.802G>A (p.Val268Met)
|
rs370267615
|
0.00003
|
|
NM_017802.4(DNAAF5):c.81G>A (p.Leu27=)
|
rs753902315
|
0.00003
|
|
NM_017950.4(CCDC40):c.1040A>G (p.Lys347Arg)
|
rs778572911
|
0.00003
|
|
NM_017950.4(CCDC40):c.1108C>T (p.Arg370Cys)
|
rs573323543
|
0.00003
|
|
NM_017950.4(CCDC40):c.1159+13G>A
|
rs528518378
|
0.00003
|
|
NM_017950.4(CCDC40):c.1222G>A (p.Asp408Asn)
|
rs377484770
|
0.00003
|
|
NM_017950.4(CCDC40):c.1318-14A>G
|
rs768173026
|
0.00003
|
|
NM_017950.4(CCDC40):c.1415G>A (p.Arg472Gln)
|
rs780647441
|
0.00003
|
|
NM_017950.4(CCDC40):c.1440+19G>A
|
rs776659076
|
0.00003
|
|
NM_017950.4(CCDC40):c.1458C>T (p.Asp486=)
|
rs752463994
|
0.00003
|
|
NM_017950.4(CCDC40):c.1509G>C (p.Leu503=)
|
rs200124291
|
0.00003
|
|
NM_017950.4(CCDC40):c.1526G>A (p.Arg509His)
|
rs757879326
|
0.00003
|
|
NM_017950.4(CCDC40):c.1563-16C>T
|
rs377057189
|
0.00003
|
|
NM_017950.4(CCDC40):c.1571del (p.Gln524fs)
|
rs761619279
|
0.00003
|
|
NM_017950.4(CCDC40):c.1607C>G (p.Ala536Gly)
|
rs375662034
|
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.21G>A (p.Ala7=)
|
rs766369570
|
0.00003
|
|
NM_017950.4(CCDC40):c.2299G>A (p.Asp767Asn)
|
rs373560340
|
0.00003
|
|
NM_017950.4(CCDC40):c.2460G>A (p.Glu820=)
|
rs369702545
|
0.00003
|
|
NM_017950.4(CCDC40):c.2506C>T (p.Leu836=)
|
rs781663105
|
0.00003
|
|
NM_017950.4(CCDC40):c.2551C>T (p.Arg851Trp)
|
rs774273644
|
0.00003
|
|
NM_017950.4(CCDC40):c.2612C>T (p.Ser871Leu)
|
rs367596393
|
0.00003
|
|
NM_017950.4(CCDC40):c.2615T>C (p.Leu872Pro)
|
rs1160715602
|
0.00003
|
|
NM_017950.4(CCDC40):c.2693A>G (p.Asn898Ser)
|
rs373525552
|
0.00003
|
|
NM_017950.4(CCDC40):c.2800C>T (p.Arg934Trp)
|
rs775749296
|
0.00003
|
|
NM_017950.4(CCDC40):c.290A>G (p.Tyr97Cys)
|
rs761769193
|
0.00003
|
|
NM_017950.4(CCDC40):c.2925C>T (p.Ala975=)
|
rs776232255
|
0.00003
|
|
NM_017950.4(CCDC40):c.2939A>T (p.Lys980Met)
|
rs201104817
|
0.00003
|
|
NM_017950.4(CCDC40):c.2967C>T (p.Thr989=)
|
rs199575834
|
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.3258G>C (p.Leu1086=)
|
rs759098835
|
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.3337C>T (p.Arg1113Cys)
|
rs201250105
|
0.00003
|
|
NM_017950.4(CCDC40):c.3353A>G (p.Tyr1118Cys)
|
rs921733232
|
0.00003
|
|
NM_017950.4(CCDC40):c.336G>A (p.Thr112=)
|
rs539062213
|
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_017950.4(CCDC40):c.438C>T (p.Thr146=)
|
rs147879748
|
0.00003
|
|
NM_017950.4(CCDC40):c.662T>C (p.Val221Ala)
|
rs760951742
|
0.00003
|
|
NM_017950.4(CCDC40):c.676+11C>G
|
rs761925173
|
0.00003
|
|
NM_017950.4(CCDC40):c.769G>A (p.Ala257Thr)
|
rs567790726
|
0.00003
|
|
NM_017950.4(CCDC40):c.910G>A (p.Glu304Lys)
|
rs757404529
|
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.126G>A (p.Glu42=)
|
rs373348391
|
0.00003
|
|
NM_018139.3(DNAAF2):c.1349G>T (p.Ser450Ile)
|
rs185938951
|
0.00003
|
|
NM_018139.3(DNAAF2):c.1443G>C (p.Ala481=)
|
rs1883232234
|
0.00003
|
|
NM_018139.3(DNAAF2):c.1545C>G (p.Thr515=)
|
rs990883069
|
0.00003
|
|
NM_018139.3(DNAAF2):c.1587G>A (p.Gln529=)
|
rs768980352
|
0.00003
|
|
NM_018139.3(DNAAF2):c.1947G>A (p.Leu649=)
|
rs1175004755
|
0.00003
|
|
NM_018139.3(DNAAF2):c.1949C>T (p.Thr650Ile)
|
rs147299791
|
0.00003
|
|
NM_018139.3(DNAAF2):c.2381C>T (p.Thr794Met)
|
rs185361306
|
0.00003
|
|
NM_018139.3(DNAAF2):c.2490T>C (p.Asn830=)
|
rs774072576
|
0.00003
|
|
NM_018139.3(DNAAF2):c.331C>A (p.Arg111=)
|
rs761666035
|
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.424T>C (p.Tyr142His)
|
rs541765275
|
0.00003
|
|
NM_018139.3(DNAAF2):c.462C>G (p.Ala154=)
|
rs749642262
|
0.00003
|
|
NM_018139.3(DNAAF2):c.648G>C (p.Glu216Asp)
|
rs755099616
|
0.00003
|
|
NM_018139.3(DNAAF2):c.959T>G (p.Leu320Arg)
|
rs767024971
|
0.00003
|
|
NM_021147.5(CCNO):c.1040C>T (p.Pro347Leu)
|
rs547968661
|
0.00003
|
|
NM_021147.5(CCNO):c.16C>A (p.Pro6Thr)
|
rs1299342018
|
0.00003
|
|
NM_021147.5(CCNO):c.254G>C (p.Gly85Ala)
|
rs866215946
|
0.00003
|
|
NM_021147.5(CCNO):c.307C>T (p.Gln103Ter)
|
rs746493440
|
0.00003
|
|
NM_021147.5(CCNO):c.567+10G>A
|
rs755915635
|
0.00003
|
|
NM_021147.5(CCNO):c.787C>T (p.Arg263Trp)
|
rs771099683
|
0.00003
|
|
NM_021147.5(CCNO):c.837C>A (p.Ser279=)
|
rs569924543
|
0.00003
|
|
NM_021147.5(CCNO):c.999C>T (p.His333=)
|
rs143418535
|
0.00003
|
|
NM_023036.6(DNAI2):c.1011C>T (p.Thr337=)
|
rs768490008
|
0.00003
|
|
NM_023036.6(DNAI2):c.1023C>T (p.Ile341=)
|
rs749432259
|
0.00003
|
|
NM_023036.6(DNAI2):c.1104C>T (p.Tyr368=)
|
rs1021470707
|
0.00003
|
|
NM_023036.6(DNAI2):c.1212-10C>T
|
rs372522923
|
0.00003
|
|
NM_023036.6(DNAI2):c.1212-6C>T
|
rs751745489
|
0.00003
|
|
NM_023036.6(DNAI2):c.1259C>T (p.Pro420Leu)
|
rs1241205365
|
0.00003
|
|
NM_023036.6(DNAI2):c.1260G>A (p.Pro420=)
|
rs200043910
|
0.00003
|
|
NM_023036.6(DNAI2):c.1348-14G>A
|
rs374828965
|
0.00003
|
|
NM_023036.6(DNAI2):c.1348-3T>C
|
rs536410188
|
0.00003
|
|
NM_023036.6(DNAI2):c.1375C>T (p.Arg459Trp)
|
rs1305647043
|
0.00003
|
|
NM_023036.6(DNAI2):c.1401C>T (p.Ile467=)
|
rs371989598
|
0.00003
|
|
NM_023036.6(DNAI2):c.1494+9C>T
|
rs1255545139
|
0.00003
|
|
NM_023036.6(DNAI2):c.1552C>T (p.Arg518Trp)
|
rs377582813
|
0.00003
|
|
NM_023036.6(DNAI2):c.159C>T (p.Cys53=)
|
rs141118738
|
0.00003
|
|
NM_023036.6(DNAI2):c.1659C>T (p.Phe553=)
|
rs372259857
|
0.00003
|
|
NM_023036.6(DNAI2):c.1683G>A (p.Lys561=)
|
rs767757416
|
0.00003
|
|
NM_023036.6(DNAI2):c.289C>T (p.Arg97Trp)
|
rs1162719665
|
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.468-5T>C
|
rs1460488048
|
0.00003
|
|
NM_023036.6(DNAI2):c.487A>G (p.Arg163Gly)
|
rs753284790
|
0.00003
|
|
NM_023036.6(DNAI2):c.589G>A (p.Asp197Asn)
|
rs761171314
|
0.00003
|
|
NM_023036.6(DNAI2):c.657C>T (p.Leu219=)
|
rs539461253
|
0.00003
|
|
NM_023036.6(DNAI2):c.685T>G (p.Ser229Ala)
|
rs576683556
|
0.00003
|
|
NM_023036.6(DNAI2):c.724+20T>G
|
rs781603676
|
0.00003
|
|
NM_023036.6(DNAI2):c.849T>C (p.Ala283=)
|
rs531514142
|
0.00003
|
|
NM_023036.6(DNAI2):c.864+4C>T
|
rs773061334
|
0.00003
|
|
NM_023036.6(DNAI2):c.95T>A (p.Met32Lys)
|
rs144328249
|
0.00003
|
|
NM_023036.6(DNAI2):c.988-16G>A
|
rs367982356
|
0.00003
|
|
NM_080860.4(RSPH1):c.119A>G (p.Asn40Ser)
|
rs751918978
|
0.00003
|
|
NM_080860.4(RSPH1):c.162T>C (p.His54=)
|
rs150239715
|
0.00003
|
|
NM_080860.4(RSPH1):c.168+9C>T
|
rs371856844
|
0.00003
|
|
NM_080860.4(RSPH1):c.326A>G (p.Asn109Ser)
|
rs559461972
|
0.00003
|
|
NM_080860.4(RSPH1):c.376G>A (p.Gly126Ser)
|
rs1037411448
|
0.00003
|
|
NM_080860.4(RSPH1):c.501+9A>G
|
rs373972724
|
0.00003
|
|
NM_080860.4(RSPH1):c.513T>C (p.Pro171=)
|
rs767684217
|
0.00003
|
|
NM_080860.4(RSPH1):c.57A>T (p.Glu19Asp)
|
rs200861411
|
0.00003
|
|
NM_080860.4(RSPH1):c.635C>T (p.Thr212Ile)
|
rs771875847
|
0.00003
|
|
NM_080860.4(RSPH1):c.674C>T (p.Pro225Leu)
|
rs201100138
|
0.00003
|
|
NM_080860.4(RSPH1):c.727+20T>G
|
rs1199461158
|
0.00003
|
|
NM_080860.4(RSPH1):c.860G>A (p.Arg287His)
|
rs868793685
|
0.00003
|
|
NM_130810.4(DNAAF4):c.123G>A (p.Lys41=)
|
rs201530487
|
0.00003
|
|
NM_130810.4(DNAAF4):c.988C>T (p.Arg330Trp)
|
rs201173498
|
0.00003
|
|
NM_145038.5(DRC1):c.1028+19C>T
|
rs758946544
|
0.00003
|
|
NM_145038.5(DRC1):c.1028+20G>A
|
rs766939128
|
0.00003
|
|
NM_145038.5(DRC1):c.1246G>A (p.Ala416Thr)
|
rs779720693
|
0.00003
|
|
NM_145038.5(DRC1):c.1264A>G (p.Ile422Val)
|
rs369445461
|
0.00003
|
|
NM_145038.5(DRC1):c.1422C>T (p.Ala474=)
|
rs977739922
|
0.00003
|
|
NM_145038.5(DRC1):c.1503C>T (p.Asp501=)
|
rs139876504
|
0.00003
|
|
NM_145038.5(DRC1):c.1509+13G>A
|
rs748076627
|
0.00003
|
|
NM_145038.5(DRC1):c.1560G>C (p.Gln520His)
|
rs1251505912
|
0.00003
|
|
NM_145038.5(DRC1):c.1585G>A (p.Asp529Asn)
|
rs201581530
|
0.00003
|
|
NM_145038.5(DRC1):c.1600-7G>A
|
rs780039487
|
0.00003
|
|
NM_145038.5(DRC1):c.1605T>C (p.Leu535=)
|
rs773501166
|
0.00003
|
|
NM_145038.5(DRC1):c.1647C>G (p.Phe549Leu)
|
rs371052653
|
0.00003
|
|
NM_145038.5(DRC1):c.1690-6C>T
|
rs745889835
|
0.00003
|
|
NM_145038.5(DRC1):c.1919+7T>C
|
rs774161990
|
0.00003
|
|
NM_145038.5(DRC1):c.191A>G (p.Glu64Gly)
|
rs138917435
|
0.00003
|
|
NM_145038.5(DRC1):c.1935G>A (p.Pro645=)
|
rs561986345
|
0.00003
|
|
NM_145038.5(DRC1):c.2029T>C (p.Trp677Arg)
|
rs765669218
|
0.00003
|
|
NM_145038.5(DRC1):c.2097G>A (p.Leu699=)
|
rs200604106
|
0.00003
|
|
NM_145038.5(DRC1):c.2167-13C>G
|
rs754738733
|
0.00003
|
|
NM_145038.5(DRC1):c.2206C>T (p.Arg736Trp)
|
rs373441736
|
0.00003
|
|
NM_145038.5(DRC1):c.926A>G (p.Tyr309Cys)
|
rs1395219877
|
0.00003
|
|
NM_145045.5(ODAD3):c.568C>G (p.Leu190Val)
|
rs770832815
|
0.00003
|
|
NM_152732.5(RSPH9):c.126T>G (p.Asp42Glu)
|
rs760687663
|
0.00003
|
|
NM_152732.5(RSPH9):c.1A>T (p.Met1Leu)
|
rs775745422
|
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.671-8T>C
|
rs371183985
|
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.124+16C>T
|
rs994873997
|
0.00003
|
|
NM_178452.6(DNAAF1):c.1262T>G (p.Leu421Arg)
|
rs749541341
|
0.00003
|
|
NM_178452.6(DNAAF1):c.1272G>A (p.Ser424=)
|
rs772170131
|
0.00003
|
|
NM_178452.6(DNAAF1):c.1359G>A (p.Val453=)
|
rs267604662
|
0.00003
|
|
NM_178452.6(DNAAF1):c.13C>G (p.Pro5Ala)
|
rs1024875120
|
0.00003
|
|
NM_178452.6(DNAAF1):c.1401C>A (p.Thr467=)
|
rs758659103
|
0.00003
|
|
NM_178452.6(DNAAF1):c.1431G>A (p.Pro477=)
|
rs375509327
|
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.1645-20C>T
|
rs776671436
|
0.00003
|
|
NM_178452.6(DNAAF1):c.1684T>A (p.Ser562Thr)
|
rs373640751
|
0.00003
|
|
NM_178452.6(DNAAF1):c.1740T>C (p.Ser580=)
|
rs191935750
|
0.00003
|
|
NM_178452.6(DNAAF1):c.1836C>T (p.Asp612=)
|
rs763040302
|
0.00003
|
|
NM_178452.6(DNAAF1):c.1994G>A (p.Cys665Tyr)
|
rs769986363
|
0.00003
|
|
NM_178452.6(DNAAF1):c.2128G>T (p.Ala710Ser)
|
rs552601600
|
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.332C>T (p.Thr111Met)
|
rs375812500
|
0.00003
|
|
NM_178452.6(DNAAF1):c.353-19C>T
|
rs528511752
|
0.00003
|
|
NM_178452.6(DNAAF1):c.596C>T (p.Thr199Ile)
|
rs773251720
|
0.00003
|
|
NM_181426.2(CCDC39):c.1034+7A>T
|
rs191242640
|
0.00003
|
|
NM_181426.2(CCDC39):c.1363-17_1363-16insC
|
rs1376359448
|
0.00003
|
|
NM_181426.2(CCDC39):c.1527+18C>T
|
rs1404028809
|
0.00003
|
|
NM_181426.2(CCDC39):c.1528-3C>T
|
rs1319606277
|
0.00003
|
|
NM_181426.2(CCDC39):c.1606C>A (p.Leu536Ile)
|
rs532100779
|
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.2159-9A>G
|
rs767936180
|
0.00003
|
|
NM_181426.2(CCDC39):c.2238A>T (p.Gln746His)
|
rs876657752
|
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.245G>A (p.Ser82Asn)
|
rs776886552
|
0.00003
|
|
NM_181426.2(CCDC39):c.2587-12A>C
|
rs1306437580
|
0.00003
|
|
NM_181426.2(CCDC39):c.2670-13G>T
|
rs551513036
|
0.00003
|
|
NM_181426.2(CCDC39):c.2735C>T (p.Pro912Leu)
|
rs760435440
|
0.00003
|
|
NM_181426.2(CCDC39):c.516+18G>A
|
rs1354638655
|
0.00003
|
|
NM_181426.2(CCDC39):c.52C>T (p.Pro18Ser)
|
rs374101424
|
0.00003
|
|
NM_181426.2(CCDC39):c.609+3T>C
|
rs761548484
|
0.00003
|
|
NM_181426.2(CCDC39):c.610-15C>T
|
rs184123763
|
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_181426.2(CCDC39):c.91-20A>G
|
rs762619325
|
0.00003
|
|
NM_181426.2(CCDC39):c.993T>C (p.Asn331=)
|
rs867488884
|
0.00003
|
|
NM_213607.3(DNAAF19):c.143+14C>T
|
rs988019759
|
0.00003
|
|
NM_213607.3(DNAAF19):c.302C>T (p.Thr101Met)
|
rs764426959
|
0.00003
|
|
NM_213607.3(DNAAF19):c.328C>T (p.Arg110Ter)
|
rs147738533
|
0.00003
|
|
NM_213607.3(DNAAF19):c.445G>A (p.Val149Met)
|
rs746981376
|
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.495G>A (p.Gly165=)
|
rs753038605
|
0.00003
|
|
NM_213607.3(DNAAF19):c.594G>A (p.Leu198=)
|
rs775730524
|
0.00003
|
|
NM_213607.3(DNAAF19):c.61A>G (p.Thr21Ala)
|
rs531875424
|
0.00003
|
|
NM_213607.3(DNAAF19):c.710A>G (p.Glu237Gly)
|
rs759937836
|
0.00003
|
|
NC_000023.11:g.38275122G>A
|
rs780639887
|
0.00002
|
|
NM_000328.3(RPGR):c.1935A>G (p.Leu645=)
|
rs781266050
|
0.00002
|
|
NM_000328.3(RPGR):c.2241+5G>A
|
rs1264379650
|
0.00002
|
|
NM_001010892.3(RSPH4A):c.1121G>A (p.Arg374His)
|
rs141217974
|
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.1393C>T (p.Arg465Ter)
|
rs755782051
|
0.00002
|
|
NM_001010892.3(RSPH4A):c.1436A>G (p.Asn479Ser)
|
rs766529254
|
0.00002
|
|
NM_001010892.3(RSPH4A):c.1453C>T (p.Arg485Ter)
|
rs1034327724
|
0.00002
|
|
NM_001010892.3(RSPH4A):c.1468C>T (p.Arg490Ter)
|
rs118204043
|
0.00002
|
|
NM_001010892.3(RSPH4A):c.1547C>T (p.Ala516Val)
|
rs771315690
|
0.00002
|
|
NM_001010892.3(RSPH4A):c.1798+10C>T
|
rs376023642
|
0.00002
|
|
NM_001010892.3(RSPH4A):c.1877C>G (p.Ser626Cys)
|
rs920198802
|
0.00002
|
|
NM_001010892.3(RSPH4A):c.1928A>T (p.Asn643Ile)
|
rs779796065
|
0.00002
|
|
NM_001010892.3(RSPH4A):c.1969T>C (p.Tyr657His)
|
rs769766758
|
0.00002
|
|
NM_001010892.3(RSPH4A):c.1976C>A (p.Pro659His)
|
rs372634959
|
0.00002
|
|
NM_001010892.3(RSPH4A):c.2127A>C (p.Glu709Asp)
|
rs1215996303
|
0.00002
|
|
NM_001010892.3(RSPH4A):c.2135A>G (p.Glu712Gly)
|
rs765412618
|
0.00002
|
|
NM_001010892.3(RSPH4A):c.259C>T (p.Pro87Ser)
|
rs767490154
|
0.00002
|
|
NM_001010892.3(RSPH4A):c.460C>T (p.Gln154Ter)
|
rs118204041
|
0.00002
|
|
NM_001010892.3(RSPH4A):c.560A>T (p.Asn187Ile)
|
rs758078631
|
0.00002
|
|
NM_001010892.3(RSPH4A):c.806A>C (p.Asp269Ala)
|
rs759084740
|
0.00002
|
|
NM_001034853.2(RPGR):c.1059+13C>T
|
rs755267892
|
0.00002
|
|
NM_001034853.2(RPGR):c.1095T>G (p.Ala365=)
|
rs765929940
|
0.00002
|
|
NM_001034853.2(RPGR):c.109C>T (p.Pro37Ser)
|
rs1027214389
|
0.00002
|
|
NM_001034853.2(RPGR):c.1131C>T (p.Phe377=)
|
rs17852968
|
0.00002
|
|
NM_001034853.2(RPGR):c.1145A>T (p.Asp382Val)
|
rs757714144
|
0.00002
|
|
NM_001034853.2(RPGR):c.1204C>T (p.Leu402=)
|
rs368494625
|
0.00002
|
|
NM_001034853.2(RPGR):c.1256C>A (p.Pro419Gln)
|
rs771830247
|
0.00002
|
|
NM_001034853.2(RPGR):c.1257A>C (p.Pro419=)
|
rs759743089
|
0.00002
|
|
NM_001034853.2(RPGR):c.1309C>T (p.Leu437Phe)
|
rs531930581
|
0.00002
|
|
NM_001034853.2(RPGR):c.1414+13A>G
|
rs769861037
|
0.00002
|
|
NM_001034853.2(RPGR):c.1585A>G (p.Ile529Val)
|
rs764009509
|
0.00002
|
|
NM_001034853.2(RPGR):c.1640A>T (p.Tyr547Phe)
|
rs750857784
|
0.00002
|
|
NM_001034853.2(RPGR):c.1948G>A (p.Gly650Arg)
|
rs2067198830
|
0.00002
|
|
NM_001034853.2(RPGR):c.1974C>T (p.Thr658=)
|
rs779788632
|
0.00002
|
|
NM_001034853.2(RPGR):c.1987A>G (p.Ser663Gly)
|
rs1349839521
|
0.00002
|
|
NM_001034853.2(RPGR):c.2067A>T (p.Pro689=)
|
rs868710724
|
0.00002
|
|
NM_001034853.2(RPGR):c.2302C>T (p.Arg768Cys)
|
rs1321272383
|
0.00002
|
|
NM_001034853.2(RPGR):c.28+15C>T
|
rs2068068838
|
0.00002
|
|
NM_001034853.2(RPGR):c.29-3C>T
|
rs907567103
|
0.00002
|
|
NM_001034853.2(RPGR):c.2933A>G (p.Glu978Gly)
|
rs1164360013
|
0.00002
|
|
NM_001034853.2(RPGR):c.3271A>G (p.Ile1091Val)
|
rs1049625142
|
0.00002
|
|
NM_001034853.2(RPGR):c.3293G>A (p.Gly1098Asp)
|
rs764205212
|
0.00002
|
|
NM_001034853.2(RPGR):c.32C>T (p.Ser11Leu)
|
rs143975950
|
0.00002
|
|
NM_001034853.2(RPGR):c.3397G>A (p.Gly1133Arg)
|
rs749648072
|
0.00002
|
|
NM_001034853.2(RPGR):c.38C>T (p.Ala13Val)
|
rs1435213397
|
0.00002
|
|
NM_001034853.2(RPGR):c.470-19C>T
|
rs752337687
|
0.00002
|
|
NM_001034853.2(RPGR):c.504C>T (p.Ser168=)
|
rs1462174690
|
0.00002
|
|
NM_001034853.2(RPGR):c.620-4A>G
|
rs1465627964
|
0.00002
|
|
NM_001034853.2(RPGR):c.725C>T (p.Pro242Leu)
|
rs773408909
|
0.00002
|
|
NM_001034853.2(RPGR):c.726G>A (p.Pro242=)
|
rs768381214
|
0.00002
|
|
NM_001034853.2(RPGR):c.778+16A>G
|
rs374841764
|
0.00002
|
|
NM_001034853.2(RPGR):c.827T>G (p.Leu276Arg)
|
rs771616566
|
0.00002
|
|
NM_001034853.2(RPGR):c.939C>T (p.Ile313=)
|
rs369916698
|
0.00002
|
|
NM_001190787.3(MCIDAS):c.102G>A (p.Pro34=)
|
rs1232343628
|
0.00002
|
|
NM_001190787.3(MCIDAS):c.123C>T (p.Phe41=)
|
rs748821872
|
0.00002
|
|
NM_001190787.3(MCIDAS):c.295C>T (p.Leu99=)
|
rs562935255
|
0.00002
|
|
NM_001190787.3(MCIDAS):c.324A>G (p.Gln108=)
|
rs551260620
|
0.00002
|
|
NM_001190787.3(MCIDAS):c.558G>A (p.Ala186=)
|
rs1001274635
|
0.00002
|
|
NM_001190787.3(MCIDAS):c.717+20G>A
|
rs750316736
|
0.00002
|
|
NM_001190787.3(MCIDAS):c.964G>A (p.Ala322Thr)
|
rs113717721
|
0.00002
|
|
NM_001206927.2(DNAH8):c.1007A>C (p.Asn336Thr)
|
rs111566149
|
0.00002
|
|
NM_001206927.2(DNAH8):c.10363A>G (p.Ile3455Val)
|
rs774568425
|
0.00002
|
|
NM_001206927.2(DNAH8):c.10374G>A (p.Glu3458=)
|
rs200987745
|
0.00002
|
|
NM_001206927.2(DNAH8):c.10549C>T (p.Arg3517Trp)
|
rs368736066
|
0.00002
|
|
NM_001206927.2(DNAH8):c.10672A>G (p.Asn3558Asp)
|
rs746067892
|
0.00002
|
|
NM_001206927.2(DNAH8):c.10707C>T (p.Ala3569=)
|
rs201956190
|
0.00002
|
|
NM_001206927.2(DNAH8):c.10962+19A>G
|
rs748898640
|
0.00002
|
|
NM_001206927.2(DNAH8):c.10963-1G>A
|
rs376903331
|
0.00002
|
|
NM_001206927.2(DNAH8):c.1116+9A>C
|
rs771600374
|
0.00002
|
|
NM_001206927.2(DNAH8):c.11169T>C (p.Leu3723=)
|
rs551436558
|
0.00002
|
|
NM_001206927.2(DNAH8):c.11203C>T (p.His3735Tyr)
|
rs1215135195
|
0.00002
|
|
NM_001206927.2(DNAH8):c.11205T>C (p.His3735=)
|
rs1247723445
|
0.00002
|
|
NM_001206927.2(DNAH8):c.11274+11dup
|
rs781608642
|
0.00002
|
|
NM_001206927.2(DNAH8):c.1133A>G (p.Glu378Gly)
|
rs552179604
|
0.00002
|
|
NM_001206927.2(DNAH8):c.11378C>T (p.Thr3793Met)
|
rs370303492
|
0.00002
|
|
NM_001206927.2(DNAH8):c.11404A>G (p.Met3802Val)
|
rs940339061
|
0.00002
|
|
NM_001206927.2(DNAH8):c.11510G>A (p.Arg3837Gln)
|
rs779195376
|
0.00002
|
|
NM_001206927.2(DNAH8):c.11519A>G (p.Lys3840Arg)
|
rs759193789
|
0.00002
|
|
NM_001206927.2(DNAH8):c.11531A>T (p.Asp3844Val)
|
rs760781678
|
0.00002
|
|
NM_001206927.2(DNAH8):c.11702C>T (p.Ala3901Val)
|
rs749482996
|
0.00002
|
|
NM_001206927.2(DNAH8):c.11758A>T (p.Ile3920Phe)
|
rs1184825620
|
0.00002
|
|
NM_001206927.2(DNAH8):c.11818T>C (p.Ser3940Pro)
|
rs752843257
|
0.00002
|
|
NM_001206927.2(DNAH8):c.119A>G (p.Glu40Gly)
|
rs777064945
|
0.00002
|
|
NM_001206927.2(DNAH8):c.12018T>C (p.Ala4006=)
|
rs770053763
|
0.00002
|
|
NM_001206927.2(DNAH8):c.12247A>G (p.Arg4083Gly)
|
rs771014094
|
0.00002
|
|
NM_001206927.2(DNAH8):c.12596T>C (p.Ile4199Thr)
|
rs766816061
|
0.00002
|
|
NM_001206927.2(DNAH8):c.1277A>C (p.His426Pro)
|
rs757379846
|
0.00002
|
|
NM_001206927.2(DNAH8):c.12794C>T (p.Pro4265Leu)
|
rs371913220
|
0.00002
|
|
NM_001206927.2(DNAH8):c.12835-7T>C
|
rs751294266
|
0.00002
|
|
NM_001206927.2(DNAH8):c.12973C>T (p.Arg4325Trp)
|
rs201329381
|
0.00002
|
|
NM_001206927.2(DNAH8):c.13054-11C>G
|
rs980385936
|
0.00002
|
|
NM_001206927.2(DNAH8):c.13214+1G>A
|
rs748507521
|
0.00002
|
|
NM_001206927.2(DNAH8):c.13219C>G (p.Gln4407Glu)
|
rs1765981830
|
0.00002
|
|
NM_001206927.2(DNAH8):c.13402C>T (p.Leu4468Phe)
|
rs200138700
|
0.00002
|
|
NM_001206927.2(DNAH8):c.13427G>A (p.Arg4476Lys)
|
rs762630419
|
0.00002
|
|
NM_001206927.2(DNAH8):c.13499T>C (p.Ile4500Thr)
|
rs564074826
|
0.00002
|
|
NM_001206927.2(DNAH8):c.1350T>C (p.Asn450=)
|
rs1234479484
|
0.00002
|
|
NM_001206927.2(DNAH8):c.13541T>C (p.Leu4514Pro)
|
rs745689526
|
0.00002
|
|
NM_001206927.2(DNAH8):c.1356A>T (p.Arg452Ser)
|
rs943639840
|
0.00002
|
|
NM_001206927.2(DNAH8):c.13784T>C (p.Ile4595Thr)
|
rs199891264
|
0.00002
|
|
NM_001206927.2(DNAH8):c.13836+15G>A
|
rs745569127
|
0.00002
|
|
NM_001206927.2(DNAH8):c.13836+7G>A
|
rs780698847
|
0.00002
|
|
NM_001206927.2(DNAH8):c.13888C>T (p.Arg4630Trp)
|
rs368133429
|
0.00002
|
|
NM_001206927.2(DNAH8):c.13894G>A (p.Gly4632Arg)
|
rs1338709868
|
0.00002
|
|
NM_001206927.2(DNAH8):c.13932G>A (p.Thr4644=)
|
rs1583598493
|
0.00002
|
|
NM_001206927.2(DNAH8):c.13983C>T (p.Asp4661=)
|
rs944976925
|
0.00002
|
|
NM_001206927.2(DNAH8):c.1596A>C (p.Pro532=)
|
rs769852680
|
0.00002
|
|
NM_001206927.2(DNAH8):c.1617+19A>T
|
rs571481051
|
0.00002
|
|
NM_001206927.2(DNAH8):c.1764+20C>T
|
rs746781823
|
0.00002
|
|
NM_001206927.2(DNAH8):c.2139+16A>G
|
rs748625060
|
0.00002
|
|
NM_001206927.2(DNAH8):c.2139+1G>A
|
rs376576474
|
0.00002
|
|
NM_001206927.2(DNAH8):c.2163C>T (p.Asp721=)
|
rs200007655
|
0.00002
|
|
NM_001206927.2(DNAH8):c.2177G>A (p.Arg726His)
|
rs747524974
|
0.00002
|
|
NM_001206927.2(DNAH8):c.2185C>G (p.Pro729Ala)
|
rs866179461
|
0.00002
|
|
NM_001206927.2(DNAH8):c.2191A>G (p.Ile731Val)
|
rs368357323
|
0.00002
|
|
NM_001206927.2(DNAH8):c.2434G>A (p.Gly812Arg)
|
rs888196252
|
0.00002
|
|
NM_001206927.2(DNAH8):c.2480G>A (p.Arg827Gln)
|
rs765369792
|
0.00002
|
|
NM_001206927.2(DNAH8):c.24C>T (p.Gly8=)
|
rs754363459
|
0.00002
|
|
NM_001206927.2(DNAH8):c.2818C>A (p.Leu940Met)
|
rs200401493
|
0.00002
|
|
NM_001206927.2(DNAH8):c.2919G>A (p.Trp973Ter)
|
rs767180208
|
0.00002
|
|
NM_001206927.2(DNAH8):c.3014G>A (p.Gly1005Glu)
|
rs1376949943
|
0.00002
|
|
NM_001206927.2(DNAH8):c.3530T>C (p.Phe1177Ser)
|
rs372754063
|
0.00002
|
|
NM_001206927.2(DNAH8):c.3660C>T (p.Ala1220=)
|
rs750497267
|
0.00002
|
|
NM_001206927.2(DNAH8):c.366A>G (p.Leu122=)
|
rs1158694608
|
0.00002
|
|
NM_001206927.2(DNAH8):c.3818T>C (p.Ile1273Thr)
|
rs375776680
|
0.00002
|
|
NM_001206927.2(DNAH8):c.4065G>C (p.Met1355Ile)
|
rs779036783
|
0.00002
|
|
NM_001206927.2(DNAH8):c.4198C>T (p.Gln1400Ter)
|
rs753062783
|
0.00002
|
|
NM_001206927.2(DNAH8):c.4403A>G (p.Tyr1468Cys)
|
rs766707073
|
0.00002
|
|
NM_001206927.2(DNAH8):c.4466+10G>C
|
rs755317508
|
0.00002
|
|
NM_001206927.2(DNAH8):c.4582del (p.Glu1528fs)
|
rs756919169
|
0.00002
|
|
NM_001206927.2(DNAH8):c.4721T>C (p.Met1574Thr)
|
rs775436333
|
0.00002
|
|
NM_001206927.2(DNAH8):c.4957G>A (p.Glu1653Lys)
|
rs765334148
|
0.00002
|
|
NM_001206927.2(DNAH8):c.4983G>A (p.Ser1661=)
|
rs745822075
|
0.00002
|
|
NM_001206927.2(DNAH8):c.5061T>A (p.Phe1687Leu)
|
rs754448491
|
0.00002
|
|
NM_001206927.2(DNAH8):c.5125C>T (p.Leu1709Phe)
|
rs767897929
|
0.00002
|
|
NM_001206927.2(DNAH8):c.552G>A (p.Ala184=)
|
rs201672902
|
0.00002
|
|
NM_001206927.2(DNAH8):c.5569G>A (p.Val1857Ile)
|
rs769383206
|
0.00002
|
|
NM_001206927.2(DNAH8):c.5584G>T (p.Val1862Phe)
|
rs748486865
|
0.00002
|
|
NM_001206927.2(DNAH8):c.5766A>C (p.Thr1922=)
|
rs147044154
|
0.00002
|
|
NM_001206927.2(DNAH8):c.5781G>A (p.Glu1927=)
|
rs776236879
|
0.00002
|
|
NM_001206927.2(DNAH8):c.5958+10del
|
rs755614802
|
0.00002
|
|
NM_001206927.2(DNAH8):c.6083_6084del (p.Glu2028fs)
|
rs777912337
|
0.00002
|
|
NM_001206927.2(DNAH8):c.6183C>T (p.Pro2061=)
|
rs143246100
|
0.00002
|
|
NM_001206927.2(DNAH8):c.6507A>G (p.Gly2169=)
|
rs376169172
|
0.00002
|
|
NM_001206927.2(DNAH8):c.6517C>T (p.Arg2173Cys)
|
rs773222614
|
0.00002
|
|
NM_001206927.2(DNAH8):c.6537C>A (p.Asn2179Lys)
|
rs373289918
|
0.00002
|
|
NM_001206927.2(DNAH8):c.6754A>C (p.Lys2252Gln)
|
rs1320995212
|
0.00002
|
|
NM_001206927.2(DNAH8):c.6828+17C>A
|
rs200114190
|
0.00002
|
|
NM_001206927.2(DNAH8):c.6833A>G (p.Asp2278Gly)
|
rs777130552
|
0.00002
|
|
NM_001206927.2(DNAH8):c.684G>A (p.Pro228=)
|
rs202079713
|
0.00002
|
|
NM_001206927.2(DNAH8):c.6896G>A (p.Ser2299Asn)
|
rs1269105628
|
0.00002
|
|
NM_001206927.2(DNAH8):c.7012C>T (p.Arg2338Trp)
|
rs148367783
|
0.00002
|
|
NM_001206927.2(DNAH8):c.7230T>G (p.Ala2410=)
|
rs138406301
|
0.00002
|
|
NM_001206927.2(DNAH8):c.7245C>T (p.Asn2415=)
|
rs139991814
|
0.00002
|
|
NM_001206927.2(DNAH8):c.7580A>G (p.Asn2527Ser)
|
rs769151939
|
0.00002
|
|
NM_001206927.2(DNAH8):c.787G>A (p.Ala263Thr)
|
rs1411109414
|
0.00002
|
|
NM_001206927.2(DNAH8):c.8043C>T (p.Val2681=)
|
rs572161820
|
0.00002
|
|
NM_001206927.2(DNAH8):c.8320C>T (p.Pro2774Ser)
|
rs144296783
|
0.00002
|
|
NM_001206927.2(DNAH8):c.8748-8C>T
|
rs760427531
|
0.00002
|
|
NM_001206927.2(DNAH8):c.9079C>T (p.Arg3027Ter)
|
rs747550558
|
0.00002
|
|
NM_001206927.2(DNAH8):c.9392A>G (p.Gln3131Arg)
|
rs1763034118
|
0.00002
|
|
NM_001206927.2(DNAH8):c.9529C>T (p.Arg3177Cys)
|
rs768140806
|
0.00002
|
|
NM_001206927.2(DNAH8):c.9579C>T (p.Asp3193=)
|
rs761889201
|
0.00002
|
|
NM_001206927.2(DNAH8):c.9619G>A (p.Ala3207Thr)
|
rs1221318001
|
0.00002
|
|
NM_001206927.2(DNAH8):c.9748C>T (p.Arg3250Ter)
|
rs747123680
|
0.00002
|
|
NM_001206927.2(DNAH8):c.9820G>C (p.Val3274Leu)
|
rs767192586
|
0.00002
|
|
NM_001206927.2(DNAH8):c.9890C>G (p.Ser3297Cys)
|
rs768565947
|
0.00002
|
|
NM_001256715.2(DNAAF3):c.1049-3C>T
|
rs747311078
|
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.1580C>A (p.Ala527Asp)
|
rs1160280127
|
0.00002
|
|
NM_001256715.2(DNAAF3):c.1590G>A (p.Pro530=)
|
rs368857479
|
0.00002
|
|
NM_001256715.2(DNAAF3):c.303G>A (p.Pro101=)
|
rs371199276
|
0.00002
|
|
NM_001256715.2(DNAAF3):c.34G>C (p.Gly12Arg)
|
rs759585776
|
0.00002
|
|
NM_001256715.2(DNAAF3):c.350G>A (p.Trp117Ter)
|
rs770403610
|
0.00002
|
|
NM_001256715.2(DNAAF3):c.435C>T (p.Asp145=)
|
rs1296906841
|
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.755A>G (p.Asn252Ser)
|
rs757536895
|
0.00002
|
|
NM_001256715.2(DNAAF3):c.837G>A (p.Thr279=)
|
rs751196231
|
0.00002
|
|
NM_001256715.2(DNAAF3):c.847G>A (p.Val283Met)
|
rs1039202842
|
0.00002
|
|
NM_001256715.2(DNAAF3):c.912+10G>A
|
rs1452715116
|
0.00002
|
|
NM_001256715.2(DNAAF3):c.938A>C (p.Asn313Thr)
|
rs1368593902
|
0.00002
|
|
NM_001277115.2(DNAH11):c.10026+18C>G
|
rs530418111
|
0.00002
|
|
NM_001277115.2(DNAH11):c.10037G>A (p.Arg3346Gln)
|
rs761713335
|
0.00002
|
|
NM_001277115.2(DNAH11):c.10099G>C (p.Glu3367Gln)
|
rs970362842
|
0.00002
|
|
NM_001277115.2(DNAH11):c.10158T>C (p.Leu3386=)
|
rs778649796
|
0.00002
|
|
NM_001277115.2(DNAH11):c.10166-17T>C
|
rs562180136
|
0.00002
|
|
NM_001277115.2(DNAH11):c.1023T>C (p.Pro341=)
|
rs368303495
|
0.00002
|
|
NM_001277115.2(DNAH11):c.10261G>A (p.Val3421Ile)
|
rs770172153
|
0.00002
|
|
NM_001277115.2(DNAH11):c.10264G>A (p.Gly3422Arg)
|
rs764509824
|
0.00002
|
|
NM_001277115.2(DNAH11):c.1029G>A (p.Arg343=)
|
rs367840885
|
0.00002
|
|
NM_001277115.2(DNAH11):c.10303T>A (p.Cys3435Ser)
|
rs1325718181
|
0.00002
|
|
NM_001277115.2(DNAH11):c.10326A>G (p.Gln3442=)
|
rs749743114
|
0.00002
|
|
NM_001277115.2(DNAH11):c.10333-5T>G
|
rs1416530706
|
0.00002
|
|
NM_001277115.2(DNAH11):c.10354G>C (p.Gly3452Arg)
|
rs1406869596
|
0.00002
|
|
NM_001277115.2(DNAH11):c.10393A>G (p.Ile3465Val)
|
rs990403391
|
0.00002
|
|
NM_001277115.2(DNAH11):c.10463A>G (p.His3488Arg)
|
rs755139044
|
0.00002
|
|
NM_001277115.2(DNAH11):c.10511A>C (p.Lys3504Thr)
|
rs768604047
|
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.10630G>A (p.Glu3544Lys)
|
rs763024182
|
0.00002
|
|
NM_001277115.2(DNAH11):c.10691+8T>G
|
rs757930286
|
0.00002
|
|
NM_001277115.2(DNAH11):c.10746C>G (p.Ile3582Met)
|
rs1180673603
|
0.00002
|
|
NM_001277115.2(DNAH11):c.10783G>A (p.Glu3595Lys)
|
rs762731249
|
0.00002
|
|
NM_001277115.2(DNAH11):c.10896+14C>T
|
rs1315166156
|
0.00002
|
|
NM_001277115.2(DNAH11):c.10897-14T>C
|
rs1782679951
|
0.00002
|
|
NM_001277115.2(DNAH11):c.11041G>A (p.Val3681Met)
|
rs371617349
|
0.00002
|
|
NM_001277115.2(DNAH11):c.11069A>C (p.Glu3690Ala)
|
rs951421085
|
0.00002
|
|
NM_001277115.2(DNAH11):c.1108C>A (p.Leu370Met)
|
rs189175047
|
0.00002
|
|
NM_001277115.2(DNAH11):c.11104C>T (p.Arg3702Ter)
|
rs375983999
|
0.00002
|
|
NM_001277115.2(DNAH11):c.11105G>A (p.Arg3702Gln)
|
rs774855826
|
0.00002
|
|
NM_001277115.2(DNAH11):c.11203-2A>G
|
rs1017444476
|
0.00002
|
|
NM_001277115.2(DNAH11):c.11203-6T>C
|
rs1783074343
|
0.00002
|
|
NM_001277115.2(DNAH11):c.11284G>C (p.Glu3762Gln)
|
rs748935519
|
0.00002
|
|
NM_001277115.2(DNAH11):c.11334G>A (p.Glu3778=)
|
rs371217714
|
0.00002
|
|
NM_001277115.2(DNAH11):c.11374-10T>C
|
rs772243775
|
0.00002
|
|
NM_001277115.2(DNAH11):c.11398G>C (p.Asp3800His)
|
rs553943791
|
0.00002
|
|
NM_001277115.2(DNAH11):c.11602T>A (p.Leu3868Ile)
|
rs370336363
|
0.00002
|
|
NM_001277115.2(DNAH11):c.11717C>T (p.Ala3906Val)
|
rs200664169
|
0.00002
|
|
NM_001277115.2(DNAH11):c.11740T>C (p.Leu3914=)
|
rs757758620
|
0.00002
|
|
NM_001277115.2(DNAH11):c.11811A>G (p.Val3937=)
|
rs1288573843
|
0.00002
|
|
NM_001277115.2(DNAH11):c.11839+17C>T
|
rs781745655
|
0.00002
|
|
NM_001277115.2(DNAH11):c.11840-19G>A
|
rs764315422
|
0.00002
|
|
NM_001277115.2(DNAH11):c.11910G>A (p.Thr3970=)
|
rs769030008
|
0.00002
|
|
NM_001277115.2(DNAH11):c.11929G>T (p.Glu3977Ter)
|
rs72658817
|
0.00002
|
|
NM_001277115.2(DNAH11):c.12099C>T (p.Ile4033=)
|
rs375296714
|
0.00002
|
|
NM_001277115.2(DNAH11):c.12195+10C>T
|
rs578249356
|
0.00002
|
|
NM_001277115.2(DNAH11):c.12196-6T>C
|
rs370585539
|
0.00002
|
|
NM_001277115.2(DNAH11):c.1220A>C (p.Asp407Ala)
|
rs780042783
|
0.00002
|
|
NM_001277115.2(DNAH11):c.12624C>A (p.Gly4208=)
|
rs199988359
|
0.00002
|
|
NM_001277115.2(DNAH11):c.12681A>G (p.Arg4227=)
|
rs200776042
|
0.00002
|
|
NM_001277115.2(DNAH11):c.12697C>T (p.Gln4233Ter)
|
rs72658823
|
0.00002
|
|
NM_001277115.2(DNAH11):c.12718G>A (p.Gly4240Ser)
|
rs1276904320
|
0.00002
|
|
NM_001277115.2(DNAH11):c.12750+6G>A
|
rs781697241
|
0.00002
|
|
NM_001277115.2(DNAH11):c.12848T>C (p.Leu4283Pro)
|
rs373110271
|
0.00002
|
|
NM_001277115.2(DNAH11):c.12892G>A (p.Glu4298Lys)
|
rs749727543
|
0.00002
|
|
NM_001277115.2(DNAH11):c.12934-17T>G
|
rs754425843
|
0.00002
|
|
NM_001277115.2(DNAH11):c.12984T>C (p.Ser4328=)
|
rs768305852
|
0.00002
|
|
NM_001277115.2(DNAH11):c.12992C>T (p.Thr4331Met)
|
rs760795047
|
0.00002
|
|
NM_001277115.2(DNAH11):c.13049+19A>C
|
rs1207208807
|
0.00002
|
|
NM_001277115.2(DNAH11):c.13143C>T (p.Asn4381=)
|
rs758419340
|
0.00002
|
|
NM_001277115.2(DNAH11):c.13162+13G>A
|
rs779064343
|
0.00002
|
|
NM_001277115.2(DNAH11):c.13162+19C>T
|
rs755790841
|
0.00002
|
|
NM_001277115.2(DNAH11):c.13163-5C>T
|
rs377067911
|
0.00002
|
|
NM_001277115.2(DNAH11):c.13177A>G (p.Met4393Val)
|
rs752884953
|
0.00002
|
|
NM_001277115.2(DNAH11):c.13212G>A (p.Thr4404=)
|
rs774004689
|
0.00002
|
|
NM_001277115.2(DNAH11):c.13306G>A (p.Ala4436Thr)
|
rs370565524
|
0.00002
|
|
NM_001277115.2(DNAH11):c.13420C>A (p.Gln4474Lys)
|
rs1467862243
|
0.00002
|
|
NM_001277115.2(DNAH11):c.13445G>A (p.Arg4482Lys)
|
rs191791959
|
0.00002
|
|
NM_001277115.2(DNAH11):c.13506T>G (p.Thr4502=)
|
rs988566131
|
0.00002
|
|
NM_001277115.2(DNAH11):c.1354C>T (p.Pro452Ser)
|
rs1318484979
|
0.00002
|
|
NM_001277115.2(DNAH11):c.1444T>G (p.Leu482Val)
|
rs575246582
|
0.00002
|
|
NM_001277115.2(DNAH11):c.1467A>G (p.Arg489=)
|
rs752782593
|
0.00002
|
|
NM_001277115.2(DNAH11):c.1543T>A (p.Cys515Ser)
|
rs368512197
|
0.00002
|
|
NM_001277115.2(DNAH11):c.1650G>C (p.Arg550Ser)
|
rs555139679
|
0.00002
|
|
NM_001277115.2(DNAH11):c.1667G>A (p.Cys556Tyr)
|
rs370752481
|
0.00002
|
|
NM_001277115.2(DNAH11):c.1710+19A>G
|
rs573924387
|
0.00002
|
|
NM_001277115.2(DNAH11):c.1710+8C>G
|
rs554141853
|
0.00002
|
|
NM_001277115.2(DNAH11):c.185T>C (p.Leu62Pro)
|
rs969842140
|
0.00002
|
|
NM_001277115.2(DNAH11):c.1901A>T (p.Asn634Ile)
|
rs575221219
|
0.00002
|
|
NM_001277115.2(DNAH11):c.1974-3C>T
|
rs761630483
|
0.00002
|
|
NM_001277115.2(DNAH11):c.1A>G (p.Met1Val)
|
rs1162526607
|
0.00002
|
|
NM_001277115.2(DNAH11):c.2099T>C (p.Phe700Ser)
|
rs1205612152
|
0.00002
|
|
NM_001277115.2(DNAH11):c.2134A>G (p.Ile712Val)
|
rs1331759754
|
0.00002
|
|
NM_001277115.2(DNAH11):c.2169G>C (p.Lys723Asn)
|
rs1342718835
|
0.00002
|
|
NM_001277115.2(DNAH11):c.220G>A (p.Glu74Lys)
|
rs753741123
|
0.00002
|
|
NM_001277115.2(DNAH11):c.2222A>G (p.Asp741Gly)
|
rs748431050
|
0.00002
|
|
NM_001277115.2(DNAH11):c.2226A>G (p.Ile742Met)
|
rs1335609772
|
0.00002
|
|
NM_001277115.2(DNAH11):c.2278A>G (p.Ile760Val)
|
rs768205792
|
0.00002
|
|
NM_001277115.2(DNAH11):c.2390C>G (p.Thr797Arg)
|
rs776674478
|
0.00002
|
|
NM_001277115.2(DNAH11):c.2490A>C (p.Thr830=)
|
rs376848177
|
0.00002
|
|
NM_001277115.2(DNAH11):c.2491C>G (p.Gln831Glu)
|
rs753129819
|
0.00002
|
|
NM_001277115.2(DNAH11):c.2729T>G (p.Phe910Cys)
|
rs185050254
|
0.00002
|
|
NM_001277115.2(DNAH11):c.2819C>T (p.Pro940Leu)
|
rs772478778
|
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.2T>G (p.Met1Arg)
|
rs1355068287
|
0.00002
|
|
NM_001277115.2(DNAH11):c.3000+16_3000+18del
|
rs2534628932
|
0.00002
|
|
NM_001277115.2(DNAH11):c.3074A>G (p.Asn1025Ser)
|
rs369273219
|
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.3751T>G (p.Cys1251Gly)
|
rs765674180
|
0.00002
|
|
NM_001277115.2(DNAH11):c.3803A>G (p.Tyr1268Cys)
|
rs774615886
|
0.00002
|
|
NM_001277115.2(DNAH11):c.3805G>A (p.Ala1269Thr)
|
rs1299239353
|
0.00002
|
|
NM_001277115.2(DNAH11):c.4037C>T (p.Thr1346Ile)
|
rs367884384
|
0.00002
|
|
NM_001277115.2(DNAH11):c.4143G>A (p.Thr1381=)
|
rs757101745
|
0.00002
|
|
NM_001277115.2(DNAH11):c.4196A>G (p.Glu1399Gly)
|
rs1179982754
|
0.00002
|
|
NM_001277115.2(DNAH11):c.4254+9C>G
|
rs1227464376
|
0.00002
|
|
NM_001277115.2(DNAH11):c.4255-15T>G
|
rs750421411
|
0.00002
|
|
NM_001277115.2(DNAH11):c.4296G>C (p.Leu1432Phe)
|
rs771639240
|
0.00002
|
|
NM_001277115.2(DNAH11):c.4353G>A (p.Ala1451=)
|
rs373969291
|
0.00002
|
|
NM_001277115.2(DNAH11):c.4377+7T>G
|
rs201528665
|
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.4670G>A (p.Arg1557Gln)
|
rs1166407911
|
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.4726-19G>A
|
rs374287247
|
0.00002
|
|
NM_001277115.2(DNAH11):c.4726-20C>T
|
rs767403296
|
0.00002
|
|
NM_001277115.2(DNAH11):c.4728G>A (p.Glu1576=)
|
rs980427812
|
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.496-18A>G
|
rs768449088
|
0.00002
|
|
NM_001277115.2(DNAH11):c.5037G>A (p.Met1679Ile)
|
rs764579746
|
0.00002
|
|
NM_001277115.2(DNAH11):c.5074G>A (p.Glu1692Lys)
|
rs367833062
|
0.00002
|
|
NM_001277115.2(DNAH11):c.5099A>C (p.Glu1700Ala)
|
rs1478539154
|
0.00002
|
|
NM_001277115.2(DNAH11):c.5165T>C (p.Ile1722Thr)
|
rs1487007855
|
0.00002
|
|
NM_001277115.2(DNAH11):c.5206G>T (p.Asp1736Tyr)
|
rs1286475326
|
0.00002
|
|
NM_001277115.2(DNAH11):c.5366G>T (p.Gly1789Val)
|
rs371790332
|
0.00002
|
|
NM_001277115.2(DNAH11):c.5404A>G (p.Ile1802Val)
|
rs771431346
|
0.00002
|
|
NM_001277115.2(DNAH11):c.5433C>T (p.Asp1811=)
|
rs761154725
|
0.00002
|
|
NM_001277115.2(DNAH11):c.5501G>A (p.Arg1834His)
|
rs750430725
|
0.00002
|
|
NM_001277115.2(DNAH11):c.562A>G (p.Met188Val)
|
rs748728894
|
0.00002
|
|
NM_001277115.2(DNAH11):c.5644T>A (p.Ser1882Thr)
|
rs779521671
|
0.00002
|
|
NM_001277115.2(DNAH11):c.5660T>C (p.Met1887Thr)
|
rs772423148
|
0.00002
|
|
NM_001277115.2(DNAH11):c.571C>T (p.His191Tyr)
|
rs562163349
|
0.00002
|
|
NM_001277115.2(DNAH11):c.5723G>A (p.Arg1908His)
|
rs758756216
|
0.00002
|
|
NM_001277115.2(DNAH11):c.5744A>G (p.Tyr1915Cys)
|
rs769226960
|
0.00002
|
|
NM_001277115.2(DNAH11):c.5779-16T>A
|
rs529906077
|
0.00002
|
|
NM_001277115.2(DNAH11):c.5815G>A (p.Gly1939Arg)
|
rs72657334
|
0.00002
|
|
NM_001277115.2(DNAH11):c.5910A>C (p.Arg1970Ser)
|
rs773165066
|
0.00002
|
|
NM_001277115.2(DNAH11):c.5924+7G>A
|
rs748144821
|
0.00002
|
|
NM_001277115.2(DNAH11):c.5925-7A>G
|
rs567675423
|
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.6180+9T>C
|
rs1172253585
|
0.00002
|
|
NM_001277115.2(DNAH11):c.6181-13G>C
|
rs755474866
|
0.00002
|
|
NM_001277115.2(DNAH11):c.6190G>A (p.Asp2064Asn)
|
rs756809691
|
0.00002
|
|
NM_001277115.2(DNAH11):c.6203G>A (p.Arg2068His)
|
rs769794431
|
0.00002
|
|
NM_001277115.2(DNAH11):c.6220T>C (p.Leu2074=)
|
rs543514580
|
0.00002
|
|
NM_001277115.2(DNAH11):c.6295G>A (p.Asp2099Asn)
|
rs750251384
|
0.00002
|
|
NM_001277115.2(DNAH11):c.6325G>A (p.Asp2109Asn)
|
rs760217754
|
0.00002
|
|
NM_001277115.2(DNAH11):c.6387G>A (p.Arg2129=)
|
rs1312853506
|
0.00002
|
|
NM_001277115.2(DNAH11):c.643C>T (p.Pro215Ser)
|
rs995773912
|
0.00002
|
|
NM_001277115.2(DNAH11):c.6446C>T (p.Pro2149Leu)
|
rs1224054095
|
0.00002
|
|
NM_001277115.2(DNAH11):c.6527C>T (p.Ala2176Val)
|
rs770279400
|
0.00002
|
|
NM_001277115.2(DNAH11):c.6566G>A (p.Arg2189Gln)
|
rs747789567
|
0.00002
|
|
NM_001277115.2(DNAH11):c.6652C>T (p.His2218Tyr)
|
rs757932794
|
0.00002
|
|
NM_001277115.2(DNAH11):c.6717A>G (p.Ser2239=)
|
rs373930042
|
0.00002
|
|
NM_001277115.2(DNAH11):c.6728G>A (p.Arg2243Gln)
|
rs762176618
|
0.00002
|
|
NM_001277115.2(DNAH11):c.6834+15del
|
rs755203459
|
0.00002
|
|
NM_001277115.2(DNAH11):c.6882G>A (p.Met2294Ile)
|
rs530801300
|
0.00002
|
|
NM_001277115.2(DNAH11):c.6915C>T (p.Ser2305=)
|
rs201787952
|
0.00002
|
|
NM_001277115.2(DNAH11):c.6981T>A (p.Asn2327Lys)
|
rs190859156
|
0.00002
|
|
NM_001277115.2(DNAH11):c.6988G>A (p.Val2330Met)
|
rs766617896
|
0.00002
|
|
NM_001277115.2(DNAH11):c.7029G>C (p.Lys2343Asn)
|
rs563161320
|
0.00002
|
|
NM_001277115.2(DNAH11):c.7075G>C (p.Asp2359His)
|
rs989750777
|
0.00002
|
|
NM_001277115.2(DNAH11):c.7081C>A (p.Leu2361Met)
|
rs1230598537
|
0.00002
|
|
NM_001277115.2(DNAH11):c.7134+10C>T
|
rs757164819
|
0.00002
|
|
NM_001277115.2(DNAH11):c.7214A>G (p.Tyr2405Cys)
|
rs770247041
|
0.00002
|
|
NM_001277115.2(DNAH11):c.7299G>T (p.Trp2433Cys)
|
rs748399924
|
0.00002
|
|
NM_001277115.2(DNAH11):c.7329T>A (p.Phe2443Leu)
|
rs533596107
|
0.00002
|
|
NM_001277115.2(DNAH11):c.7334C>T (p.Ser2445Leu)
|
rs180970138
|
0.00002
|
|
NM_001277115.2(DNAH11):c.7339G>A (p.Gly2447Arg)
|
rs568086125
|
0.00002
|
|
NM_001277115.2(DNAH11):c.7469C>T (p.Ala2490Val)
|
rs745476691
|
0.00002
|
|
NM_001277115.2(DNAH11):c.7471C>T (p.Arg2491Cys)
|
rs267601454
|
0.00002
|
|
NM_001277115.2(DNAH11):c.7526T>C (p.Val2509Ala)
|
rs762276522
|
0.00002
|
|
NM_001277115.2(DNAH11):c.7580T>C (p.Leu2527Pro)
|
rs1332567966
|
0.00002
|
|
NM_001277115.2(DNAH11):c.7641G>A (p.Leu2547=)
|
rs1247351644
|
0.00002
|
|
NM_001277115.2(DNAH11):c.7646-7A>C
|
rs772659566
|
0.00002
|
|
NM_001277115.2(DNAH11):c.7662C>G (p.Pro2554=)
|
rs747507017
|
0.00002
|
|
NM_001277115.2(DNAH11):c.7680T>C (p.Gly2560=)
|
rs199917123
|
0.00002
|
|
NM_001277115.2(DNAH11):c.7688A>G (p.Tyr2563Cys)
|
rs560401563
|
0.00002
|
|
NM_001277115.2(DNAH11):c.7761C>A (p.Gly2587=)
|
rs1437831059
|
0.00002
|
|
NM_001277115.2(DNAH11):c.7811+13C>G
|
rs759247741
|
0.00002
|
|
NM_001277115.2(DNAH11):c.7820G>A (p.Arg2607Lys)
|
rs376929592
|
0.00002
|
|
NM_001277115.2(DNAH11):c.7845C>A (p.Ile2615=)
|
rs767672159
|
0.00002
|
|
NM_001277115.2(DNAH11):c.7863C>T (p.Val2621=)
|
rs755501742
|
0.00002
|
|
NM_001277115.2(DNAH11):c.7891T>A (p.Phe2631Ile)
|
rs746587907
|
0.00002
|
|
NM_001277115.2(DNAH11):c.7961del (p.Leu2654fs)
|
rs757031567
|
0.00002
|
|
NM_001277115.2(DNAH11):c.7978C>T (p.Gln2660Ter)
|
rs1562520885
|
0.00002
|
|
NM_001277115.2(DNAH11):c.8155-14T>C
|
rs772631712
|
0.00002
|
|
NM_001277115.2(DNAH11):c.8270A>T (p.Asp2757Val)
|
rs760372952
|
0.00002
|
|
NM_001277115.2(DNAH11):c.8316+16T>C
|
rs1339464588
|
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.8427G>A (p.Thr2809=)
|
rs745714334
|
0.00002
|
|
NM_001277115.2(DNAH11):c.8459A>G (p.Glu2820Gly)
|
rs772267453
|
0.00002
|
|
NM_001277115.2(DNAH11):c.8511-16C>T
|
rs563123099
|
0.00002
|
|
NM_001277115.2(DNAH11):c.8511-5C>T
|
rs745938633
|
0.00002
|
|
NM_001277115.2(DNAH11):c.8525G>A (p.Arg2842Gln)
|
rs778407227
|
0.00002
|
|
NM_001277115.2(DNAH11):c.8577T>C (p.Ser2859=)
|
rs373450811
|
0.00002
|
|
NM_001277115.2(DNAH11):c.866C>T (p.Ser289Leu)
|
rs1040888811
|
0.00002
|
|
NM_001277115.2(DNAH11):c.8674-12C>T
|
rs748687565
|
0.00002
|
|
NM_001277115.2(DNAH11):c.8720C>A (p.Pro2907His)
|
rs762986683
|
0.00002
|
|
NM_001277115.2(DNAH11):c.875A>G (p.Tyr292Cys)
|
rs768404895
|
0.00002
|
|
NM_001277115.2(DNAH11):c.8797+3G>A
|
rs772995648
|
0.00002
|
|
NM_001277115.2(DNAH11):c.8820C>T (p.Ser2940=)
|
rs377417038
|
0.00002
|
|
NM_001277115.2(DNAH11):c.8889C>T (p.Ser2963=)
|
rs777097347
|
0.00002
|
|
NM_001277115.2(DNAH11):c.88G>A (p.Val30Met)
|
rs1004777420
|
0.00002
|
|
NM_001277115.2(DNAH11):c.9218G>A (p.Ser3073Asn)
|
rs766622461
|
0.00002
|
|
NM_001277115.2(DNAH11):c.9360T>C (p.Leu3120=)
|
rs769991453
|
0.00002
|
|
NM_001277115.2(DNAH11):c.9399T>C (p.Asp3133=)
|
rs754541827
|
0.00002
|
|
NM_001277115.2(DNAH11):c.9434C>T (p.Thr3145Met)
|
rs185195859
|
0.00002
|
|
NM_001277115.2(DNAH11):c.9479G>A (p.Arg3160Gln)
|
rs267601456
|
0.00002
|
|
NM_001277115.2(DNAH11):c.9484-12C>T
|
rs1010620168
|
0.00002
|
|
NM_001277115.2(DNAH11):c.9484-16T>C
|
rs769533775
|
0.00002
|
|
NM_001277115.2(DNAH11):c.9768T>C (p.Ile3256=)
|
rs567962120
|
0.00002
|
|
NM_001277115.2(DNAH11):c.9774T>C (p.Tyr3258=)
|
rs72657388
|
0.00002
|
|
NM_001277115.2(DNAH11):c.9838G>A (p.Glu3280Lys)
|
rs369078097
|
0.00002
|
|
NM_001277115.2(DNAH11):c.9909C>T (p.Ile3303=)
|
rs746117975
|
0.00002
|
|
NM_001277115.2(DNAH11):c.9917T>G (p.Phe3306Cys)
|
rs1224736335
|
0.00002
|
|
NM_001277115.2(DNAH11):c.9924+12A>G
|
rs760445518
|
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.1001A>G (p.Asn334Ser)
|
rs963974142
|
0.00002
|
|
NM_001364171.2(ODAD1):c.1240+6C>T
|
rs771135040
|
0.00002
|
|
NM_001364171.2(ODAD1):c.1241-6A>T
|
rs200024308
|
0.00002
|
|
NM_001364171.2(ODAD1):c.1325G>A (p.Arg442Gln)
|
rs147082322
|
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.1547G>A (p.Ser516Asn)
|
rs758487756
|
0.00002
|
|
NM_001364171.2(ODAD1):c.1572G>A (p.Val524=)
|
rs1296406880
|
0.00002
|
|
NM_001364171.2(ODAD1):c.1612C>T (p.Arg538Cys)
|
rs200598312
|
0.00002
|
|
NM_001364171.2(ODAD1):c.161A>G (p.Asn54Ser)
|
rs968311018
|
0.00002
|
|
NM_001364171.2(ODAD1):c.1646T>C (p.Leu549Pro)
|
rs867113107
|
0.00002
|
|
NM_001364171.2(ODAD1):c.1648G>T (p.Asp550Tyr)
|
rs776093467
|
0.00002
|
|
NM_001364171.2(ODAD1):c.170+11C>T
|
rs554528909
|
0.00002
|
|
NM_001364171.2(ODAD1):c.1738G>A (p.Gly580Arg)
|
rs142301437
|
0.00002
|
|
NM_001364171.2(ODAD1):c.1875C>T (p.Phe625=)
|
rs770653800
|
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.1921G>A (p.Val641Ile)
|
rs774257310
|
0.00002
|
|
NM_001364171.2(ODAD1):c.1937A>T (p.Tyr646Phe)
|
rs780723224
|
0.00002
|
|
NM_001364171.2(ODAD1):c.2067C>T (p.Thr689=)
|
rs750363102
|
0.00002
|
|
NM_001364171.2(ODAD1):c.345G>A (p.Arg115=)
|
rs886792871
|
0.00002
|
|
NM_001364171.2(ODAD1):c.474G>A (p.Gln158=)
|
rs1353613627
|
0.00002
|
|
NM_001364171.2(ODAD1):c.484-15C>A
|
rs1003030648
|
0.00002
|
|
NM_001364171.2(ODAD1):c.707C>T (p.Ala236Val)
|
rs374990723
|
0.00002
|
|
NM_001364171.2(ODAD1):c.729C>T (p.Ser243=)
|
rs547074727
|
0.00002
|
|
NM_001364171.2(ODAD1):c.740C>T (p.Ala247Val)
|
rs774954250
|
0.00002
|
|
NM_001369.3(DNAH5):c.100G>A (p.Asp34Asn)
|
rs1215107095
|
0.00002
|
|
NM_001369.3(DNAH5):c.10195G>A (p.Val3399Ile)
|
rs749397968
|
0.00002
|
|
NM_001369.3(DNAH5):c.10292T>C (p.Val3431Ala)
|
rs752629273
|
0.00002
|
|
NM_001369.3(DNAH5):c.10307G>A (p.Arg3436His)
|
rs771010026
|
0.00002
|
|
NM_001369.3(DNAH5):c.10312C>T (p.Leu3438Phe)
|
rs1165709485
|
0.00002
|
|
NM_001369.3(DNAH5):c.10382T>C (p.Val3461Ala)
|
rs761920402
|
0.00002
|
|
NM_001369.3(DNAH5):c.10396G>A (p.Glu3466Lys)
|
rs551833939
|
0.00002
|
|
NM_001369.3(DNAH5):c.10427T>G (p.Leu3476Arg)
|
rs746513280
|
0.00002
|
|
NM_001369.3(DNAH5):c.10434T>C (p.Asp3478=)
|
rs758443484
|
0.00002
|
|
NM_001369.3(DNAH5):c.10560T>C (p.Asp3520=)
|
rs551148279
|
0.00002
|
|
NM_001369.3(DNAH5):c.10599A>G (p.Pro3533=)
|
rs970408067
|
0.00002
|
|
NM_001369.3(DNAH5):c.1081A>C (p.Ser361Arg)
|
rs756837998
|
0.00002
|
|
NM_001369.3(DNAH5):c.10859G>A (p.Arg3620Gln)
|
rs547014532
|
0.00002
|
|
NM_001369.3(DNAH5):c.1089+18A>G
|
rs752192934
|
0.00002
|
|
NM_001369.3(DNAH5):c.1092A>G (p.Leu364=)
|
rs759149687
|
0.00002
|
|
NM_001369.3(DNAH5):c.10982A>G (p.Asp3661Gly)
|
rs1420575942
|
0.00002
|
|
NM_001369.3(DNAH5):c.11130T>C (p.Arg3710=)
|
rs765391783
|
0.00002
|
|
NM_001369.3(DNAH5):c.11189G>C (p.Arg3730Thr)
|
rs776021439
|
0.00002
|
|
NM_001369.3(DNAH5):c.11212-18A>C
|
rs753193432
|
0.00002
|
|
NM_001369.3(DNAH5):c.11239A>T (p.Met3747Leu)
|
rs768267942
|
0.00002
|
|
NM_001369.3(DNAH5):c.11299C>T (p.Arg3767Cys)
|
rs780369063
|
0.00002
|
|
NM_001369.3(DNAH5):c.11312C>T (p.Thr3771Ile)
|
rs545183484
|
0.00002
|
|
NM_001369.3(DNAH5):c.11401A>G (p.Ile3801Val)
|
rs750831635
|
0.00002
|
|
NM_001369.3(DNAH5):c.11455+7T>G
|
rs774101738
|
0.00002
|
|
NM_001369.3(DNAH5):c.11462C>T (p.Thr3821Met)
|
rs374858945
|
0.00002
|
|
NM_001369.3(DNAH5):c.11465G>A (p.Arg3822Gln)
|
rs779624238
|
0.00002
|
|
NM_001369.3(DNAH5):c.1158C>T (p.Tyr386=)
|
rs970684923
|
0.00002
|
|
NM_001369.3(DNAH5):c.11616C>G (p.Ile3872Met)
|
rs773699669
|
0.00002
|
|
NM_001369.3(DNAH5):c.11653C>T (p.Arg3885Ter)
|
rs756032160
|
0.00002
|
|
NM_001369.3(DNAH5):c.11685C>G (p.Phe3895Leu)
|
rs149892711
|
0.00002
|
|
NM_001369.3(DNAH5):c.11884-17T>A
|
rs199887655
|
0.00002
|
|
NM_001369.3(DNAH5):c.1197+9A>G
|
rs766378867
|
0.00002
|
|
NM_001369.3(DNAH5):c.11987G>A (p.Arg3996His)
|
rs768677731
|
0.00002
|
|
NM_001369.3(DNAH5):c.12027C>T (p.Ile4009=)
|
rs780710528
|
0.00002
|
|
NM_001369.3(DNAH5):c.12076G>A (p.Glu4026Lys)
|
rs776854779
|
0.00002
|
|
NM_001369.3(DNAH5):c.12129G>A (p.Thr4043=)
|
rs779527506
|
0.00002
|
|
NM_001369.3(DNAH5):c.12151A>G (p.Met4051Val)
|
rs138162689
|
0.00002
|
|
NM_001369.3(DNAH5):c.12179T>C (p.Ile4060Thr)
|
rs774876738
|
0.00002
|
|
NM_001369.3(DNAH5):c.12255G>A (p.Lys4085=)
|
rs964388489
|
0.00002
|
|
NM_001369.3(DNAH5):c.12280-19C>T
|
rs762124060
|
0.00002
|
|
NM_001369.3(DNAH5):c.12361C>T (p.Leu4121Phe)
|
rs144234655
|
0.00002
|
|
NM_001369.3(DNAH5):c.12406A>G (p.Lys4136Glu)
|
rs374711793
|
0.00002
|
|
NM_001369.3(DNAH5):c.12558C>T (p.Tyr4186=)
|
rs748817131
|
0.00002
|
|
NM_001369.3(DNAH5):c.12582T>C (p.Thr4194=)
|
rs1428718985
|
0.00002
|
|
NM_001369.3(DNAH5):c.12604G>A (p.Gly4202Ser)
|
rs748903850
|
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.12728G>A (p.Arg4243His)
|
rs774987180
|
0.00002
|
|
NM_001369.3(DNAH5):c.12734T>C (p.Met4245Thr)
|
rs766597612
|
0.00002
|
|
NM_001369.3(DNAH5):c.128T>C (p.Ile43Thr)
|
rs767228474
|
0.00002
|
|
NM_001369.3(DNAH5):c.12907C>G (p.Gln4303Glu)
|
rs371030180
|
0.00002
|
|
NM_001369.3(DNAH5):c.12944G>A (p.Gly4315Glu)
|
rs1338759362
|
0.00002
|
|
NM_001369.3(DNAH5):c.12994G>A (p.Val4332Met)
|
rs779253735
|
0.00002
|
|
NM_001369.3(DNAH5):c.13005C>T (p.Thr4335=)
|
rs755271975
|
0.00002
|
|
NM_001369.3(DNAH5):c.13061C>T (p.Ala4354Val)
|
rs201172384
|
0.00002
|
|
NM_001369.3(DNAH5):c.13275C>T (p.Ser4425=)
|
rs370545463
|
0.00002
|
|
NM_001369.3(DNAH5):c.13276G>A (p.Glu4426Lys)
|
rs777295839
|
0.00002
|
|
NM_001369.3(DNAH5):c.13487G>A (p.Arg4496Gln)
|
rs759999227
|
0.00002
|
|
NM_001369.3(DNAH5):c.13548A>C (p.Glu4516Asp)
|
rs1742000009
|
0.00002
|
|
NM_001369.3(DNAH5):c.13641G>A (p.Lys4547=)
|
rs746445145
|
0.00002
|
|
NM_001369.3(DNAH5):c.13646A>T (p.Asn4549Ile)
|
rs779267747
|
0.00002
|
|
NM_001369.3(DNAH5):c.13779G>A (p.Thr4593=)
|
rs200555581
|
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.1463C>G (p.Thr488Arg)
|
rs751526615
|
0.00002
|
|
NM_001369.3(DNAH5):c.1486C>T (p.Leu496=)
|
rs1207049417
|
0.00002
|
|
NM_001369.3(DNAH5):c.1547C>T (p.Ala516Val)
|
rs756613152
|
0.00002
|
|
NM_001369.3(DNAH5):c.1658A>G (p.Lys553Arg)
|
rs767525835
|
0.00002
|
|
NM_001369.3(DNAH5):c.1664T>C (p.Met555Thr)
|
rs754973327
|
0.00002
|
|
NM_001369.3(DNAH5):c.1823C>G (p.Thr608Arg)
|
rs781059966
|
0.00002
|
|
NM_001369.3(DNAH5):c.1869C>T (p.Ile623=)
|
rs752792992
|
0.00002
|
|
NM_001369.3(DNAH5):c.1870G>A (p.Ala624Thr)
|
rs373727231
|
0.00002
|
|
NM_001369.3(DNAH5):c.1905T>C (p.His635=)
|
rs545295433
|
0.00002
|
|
NM_001369.3(DNAH5):c.1981C>T (p.Arg661Cys)
|
rs763771549
|
0.00002
|
|
NM_001369.3(DNAH5):c.2040G>A (p.Ala680=)
|
rs749039184
|
0.00002
|
|
NM_001369.3(DNAH5):c.2048G>A (p.Arg683Gln)
|
rs142373364
|
0.00002
|
|
NM_001369.3(DNAH5):c.2052+15T>C
|
rs575438906
|
0.00002
|
|
NM_001369.3(DNAH5):c.207T>A (p.Asp69Glu)
|
rs777266031
|
0.00002
|
|
NM_001369.3(DNAH5):c.2122G>T (p.Val708Leu)
|
rs779509527
|
0.00002
|
|
NM_001369.3(DNAH5):c.2170A>G (p.Met724Val)
|
rs202195680
|
0.00002
|
|
NM_001369.3(DNAH5):c.2225G>A (p.Arg742Gln)
|
rs560939419
|
0.00002
|
|
NM_001369.3(DNAH5):c.2283A>C (p.Arg761Ser)
|
rs1162539227
|
0.00002
|
|
NM_001369.3(DNAH5):c.233G>A (p.Arg78Gln)
|
rs755574532
|
0.00002
|
|
NM_001369.3(DNAH5):c.2416A>G (p.Thr806Ala)
|
rs1274101733
|
0.00002
|
|
NM_001369.3(DNAH5):c.2563C>T (p.Leu855Phe)
|
rs373146819
|
0.00002
|
|
NM_001369.3(DNAH5):c.2796G>A (p.Arg932=)
|
rs374394989
|
0.00002
|
|
NM_001369.3(DNAH5):c.2838A>G (p.Lys946=)
|
rs1035669978
|
0.00002
|
|
NM_001369.3(DNAH5):c.2914A>C (p.Lys972Gln)
|
rs776671484
|
0.00002
|
|
NM_001369.3(DNAH5):c.2919T>C (p.Val973=)
|
rs563800936
|
0.00002
|
|
NM_001369.3(DNAH5):c.2950C>T (p.Arg984Cys)
|
rs749683241
|
0.00002
|
|
NM_001369.3(DNAH5):c.2985C>T (p.Asp995=)
|
rs779686658
|
0.00002
|
|
NM_001369.3(DNAH5):c.2995G>T (p.Ala999Ser)
|
rs763972246
|
0.00002
|
|
NM_001369.3(DNAH5):c.3039C>T (p.Ser1013=)
|
rs560267080
|
0.00002
|
|
NM_001369.3(DNAH5):c.3111C>T (p.Ala1037=)
|
rs371824972
|
0.00002
|
|
NM_001369.3(DNAH5):c.3144C>T (p.Val1048=)
|
rs758437071
|
0.00002
|
|
NM_001369.3(DNAH5):c.3175-14C>T
|
rs199714116
|
0.00002
|
|
NM_001369.3(DNAH5):c.3300C>T (p.Pro1100=)
|
rs375299394
|
0.00002
|
|
NM_001369.3(DNAH5):c.3344A>G (p.Glu1115Gly)
|
rs1004254149
|
0.00002
|
|
NM_001369.3(DNAH5):c.3397-17C>T
|
rs752402704
|
0.00002
|
|
NM_001369.3(DNAH5):c.3473C>T (p.Thr1158Ile)
|
rs368472903
|
0.00002
|
|
NM_001369.3(DNAH5):c.378A>G (p.Val126=)
|
rs377275027
|
0.00002
|
|
NM_001369.3(DNAH5):c.3834+8A>G
|
rs762484857
|
0.00002
|
|
NM_001369.3(DNAH5):c.3892A>G (p.Lys1298Glu)
|
rs774680760
|
0.00002
|
|
NM_001369.3(DNAH5):c.3908A>G (p.His1303Arg)
|
rs748731717
|
0.00002
|
|
NM_001369.3(DNAH5):c.4054-4T>C
|
rs200608915
|
0.00002
|
|
NM_001369.3(DNAH5):c.4104T>A (p.Leu1368=)
|
rs775914213
|
0.00002
|
|
NM_001369.3(DNAH5):c.4332T>C (p.Asn1444=)
|
rs1246376656
|
0.00002
|
|
NM_001369.3(DNAH5):c.438+20G>A
|
rs1290192527
|
0.00002
|
|
NM_001369.3(DNAH5):c.4418T>C (p.Ile1473Thr)
|
rs779510008
|
0.00002
|
|
NM_001369.3(DNAH5):c.4420G>C (p.Asp1474His)
|
rs371703906
|
0.00002
|
|
NM_001369.3(DNAH5):c.4480C>T (p.Arg1494Trp)
|
rs535366955
|
0.00002
|
|
NM_001369.3(DNAH5):c.4677A>T (p.Thr1559=)
|
rs919108956
|
0.00002
|
|
NM_001369.3(DNAH5):c.4686C>T (p.Phe1562=)
|
rs751766956
|
0.00002
|
|
NM_001369.3(DNAH5):c.4746C>T (p.Ile1582=)
|
rs200523486
|
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.4797-13T>C
|
rs1356734218
|
0.00002
|
|
NM_001369.3(DNAH5):c.4877T>C (p.Met1626Thr)
|
rs753163103
|
0.00002
|
|
NM_001369.3(DNAH5):c.4880C>T (p.Thr1627Met)
|
rs745381842
|
0.00002
|
|
NM_001369.3(DNAH5):c.4936A>C (p.Lys1646Gln)
|
rs775506164
|
0.00002
|
|
NM_001369.3(DNAH5):c.498T>C (p.Arg166=)
|
rs1273795279
|
0.00002
|
|
NM_001369.3(DNAH5):c.5050A>G (p.Thr1684Ala)
|
rs556729810
|
0.00002
|
|
NM_001369.3(DNAH5):c.5051C>A (p.Thr1684Asn)
|
rs752449850
|
0.00002
|
|
NM_001369.3(DNAH5):c.5195C>T (p.Ala1732Val)
|
rs1018336173
|
0.00002
|
|
NM_001369.3(DNAH5):c.5275T>A (p.Tyr1759Asn)
|
rs765644750
|
0.00002
|
|
NM_001369.3(DNAH5):c.5290T>C (p.Ser1764Pro)
|
rs748763552
|
0.00002
|
|
NM_001369.3(DNAH5):c.536C>T (p.Thr179Met)
|
rs747116308
|
0.00002
|
|
NM_001369.3(DNAH5):c.5484+10T>C
|
rs564286425
|
0.00002
|
|
NM_001369.3(DNAH5):c.5515A>G (p.Thr1839Ala)
|
rs763742646
|
0.00002
|
|
NM_001369.3(DNAH5):c.5624C>T (p.Thr1875Met)
|
rs141131693
|
0.00002
|
|
NM_001369.3(DNAH5):c.5642C>T (p.Thr1881Met)
|
rs190749755
|
0.00002
|
|
NM_001369.3(DNAH5):c.5648G>A (p.Arg1883Gln)
|
rs747514968
|
0.00002
|
|
NM_001369.3(DNAH5):c.5663C>T (p.Thr1888Ile)
|
rs777579934
|
0.00002
|
|
NM_001369.3(DNAH5):c.5680G>A (p.Val1894Met)
|
rs759495709
|
0.00002
|
|
NM_001369.3(DNAH5):c.5714A>G (p.His1905Arg)
|
rs776745317
|
0.00002
|
|
NM_001369.3(DNAH5):c.5817G>A (p.Ala1939=)
|
rs556936569
|
0.00002
|
|
NM_001369.3(DNAH5):c.5882+10C>T
|
rs892709959
|
0.00002
|
|
NM_001369.3(DNAH5):c.5883-11T>C
|
rs555796682
|
0.00002
|
|
NM_001369.3(DNAH5):c.6001G>A (p.Val2001Ile)
|
rs769656114
|
0.00002
|
|
NM_001369.3(DNAH5):c.6004G>A (p.Val2002Met)
|
rs148279547
|
0.00002
|
|
NM_001369.3(DNAH5):c.6167A>T (p.Lys2056Ile)
|
rs578128759
|
0.00002
|
|
NM_001369.3(DNAH5):c.6250-12T>C
|
rs2546876711
|
0.00002
|
|
NM_001369.3(DNAH5):c.636T>G (p.Gly212=)
|
rs376360357
|
0.00002
|
|
NM_001369.3(DNAH5):c.6381C>T (p.Asn2127=)
|
rs767344710
|
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.6537G>A (p.Thr2179=)
|
rs201482933
|
0.00002
|
|
NM_001369.3(DNAH5):c.6547C>T (p.Arg2183Cys)
|
rs375277705
|
0.00002
|
|
NM_001369.3(DNAH5):c.6580-10C>A
|
rs563828042
|
0.00002
|
|
NM_001369.3(DNAH5):c.6763C>T (p.Arg2255Ter)
|
rs745918507
|
0.00002
|
|
NM_001369.3(DNAH5):c.6791G>A (p.Ser2264Asn)
|
rs78484669
|
0.00002
|
|
NM_001369.3(DNAH5):c.687T>C (p.Leu229=)
|
rs751174310
|
0.00002
|
|
NM_001369.3(DNAH5):c.6911G>A (p.Arg2304Gln)
|
rs558294959
|
0.00002
|
|
NM_001369.3(DNAH5):c.6918C>T (p.Asp2306=)
|
rs1437248302
|
0.00002
|
|
NM_001369.3(DNAH5):c.6989-6T>C
|
rs1761231844
|
0.00002
|
|
NM_001369.3(DNAH5):c.698C>T (p.Thr233Ile)
|
rs1416012949
|
0.00002
|
|
NM_001369.3(DNAH5):c.7098G>C (p.Arg2366=)
|
rs768567429
|
0.00002
|
|
NM_001369.3(DNAH5):c.7168G>A (p.Val2390Ile)
|
rs751936457
|
0.00002
|
|
NM_001369.3(DNAH5):c.7296C>T (p.Phe2432=)
|
rs748328316
|
0.00002
|
|
NM_001369.3(DNAH5):c.7310G>A (p.Arg2437His)
|
rs779162658
|
0.00002
|
|
NM_001369.3(DNAH5):c.7355C>T (p.Ala2452Val)
|
rs773082893
|
0.00002
|
|
NM_001369.3(DNAH5):c.7371G>C (p.Gln2457His)
|
rs1561324970
|
0.00002
|
|
NM_001369.3(DNAH5):c.7377T>A (p.Ile2459=)
|
rs200022014
|
0.00002
|
|
NM_001369.3(DNAH5):c.7465C>T (p.Leu2489=)
|
rs771511314
|
0.00002
|
|
NM_001369.3(DNAH5):c.7574G>A (p.Gly2525Glu)
|
rs1465026258
|
0.00002
|
|
NM_001369.3(DNAH5):c.7601C>T (p.Ala2534Val)
|
rs773382166
|
0.00002
|
|
NM_001369.3(DNAH5):c.7609+16C>T
|
rs565791648
|
0.00002
|
|
NM_001369.3(DNAH5):c.7610-20A>T
|
rs374222401
|
0.00002
|
|
NM_001369.3(DNAH5):c.7620G>A (p.Thr2540=)
|
rs541631905
|
0.00002
|
|
NM_001369.3(DNAH5):c.7633C>T (p.Arg2545Cys)
|
rs1185501407
|
0.00002
|
|
NM_001369.3(DNAH5):c.7656G>A (p.Pro2552=)
|
rs764554950
|
0.00002
|
|
NM_001369.3(DNAH5):c.7687C>T (p.Leu2563=)
|
rs769659241
|
0.00002
|
|
NM_001369.3(DNAH5):c.7735A>G (p.Ile2579Val)
|
rs780288410
|
0.00002
|
|
NM_001369.3(DNAH5):c.7738G>A (p.Ala2580Thr)
|
rs758611473
|
0.00002
|
|
NM_001369.3(DNAH5):c.7761A>G (p.Leu2587=)
|
rs1759853119
|
0.00002
|
|
NM_001369.3(DNAH5):c.7831T>C (p.Cys2611Arg)
|
rs377481206
|
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.798+16C>G
|
rs758165137
|
0.00002
|
|
NM_001369.3(DNAH5):c.799-10G>T
|
rs750556389
|
0.00002
|
|
NM_001369.3(DNAH5):c.8010+14A>G
|
rs371543607
|
0.00002
|
|
NM_001369.3(DNAH5):c.8036T>A (p.Leu2679Gln)
|
rs1424415934
|
0.00002
|
|
NM_001369.3(DNAH5):c.8064A>G (p.Leu2688=)
|
rs754511938
|
0.00002
|
|
NM_001369.3(DNAH5):c.8076G>A (p.Gly2692=)
|
rs758418210
|
0.00002
|
|
NM_001369.3(DNAH5):c.8080T>G (p.Phe2694Val)
|
rs1272436086
|
0.00002
|
|
NM_001369.3(DNAH5):c.8141A>G (p.Asn2714Ser)
|
rs1210982072
|
0.00002
|
|
NM_001369.3(DNAH5):c.8151C>A (p.Pro2717=)
|
rs758202463
|
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.8224+10A>G
|
rs773766189
|
0.00002
|
|
NM_001369.3(DNAH5):c.8236G>T (p.Val2746Leu)
|
rs773643407
|
0.00002
|
|
NM_001369.3(DNAH5):c.8262T>G (p.Gly2754=)
|
rs1368092713
|
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.8488dup (p.Ile2830fs)
|
rs766847199
|
0.00002
|
|
NM_001369.3(DNAH5):c.8631T>A (p.Asp2877Glu)
|
rs770895790
|
0.00002
|
|
NM_001369.3(DNAH5):c.8642C>G (p.Ala2881Gly)
|
rs727502973
|
0.00002
|
|
NM_001369.3(DNAH5):c.8647+6C>T
|
rs200250503
|
0.00002
|
|
NM_001369.3(DNAH5):c.8725C>T (p.Arg2909Cys)
|
rs369744828
|
0.00002
|
|
NM_001369.3(DNAH5):c.8773G>A (p.Gly2925Ser)
|
rs145793410
|
0.00002
|
|
NM_001369.3(DNAH5):c.8875G>A (p.Gly2959Arg)
|
rs147443285
|
0.00002
|
|
NM_001369.3(DNAH5):c.8897C>T (p.Thr2966Met)
|
rs202021335
|
0.00002
|
|
NM_001369.3(DNAH5):c.8926G>A (p.Val2976Ile)
|
rs752086486
|
0.00002
|
|
NM_001369.3(DNAH5):c.8948C>T (p.Thr2983Met)
|
rs750809719
|
0.00002
|
|
NM_001369.3(DNAH5):c.8977G>C (p.Glu2993Gln)
|
rs376013555
|
0.00002
|
|
NM_001369.3(DNAH5):c.9001A>G (p.Thr3001Ala)
|
rs780283468
|
0.00002
|
|
NM_001369.3(DNAH5):c.9236G>A (p.Arg3079Gln)
|
rs752552477
|
0.00002
|
|
NM_001369.3(DNAH5):c.9267G>A (p.Ser3089=)
|
rs774242959
|
0.00002
|
|
NM_001369.3(DNAH5):c.9374-17A>G
|
rs776814443
|
0.00002
|
|
NM_001369.3(DNAH5):c.9374-6C>T
|
rs748739795
|
0.00002
|
|
NM_001369.3(DNAH5):c.9444C>T (p.Cys3148=)
|
rs543265562
|
0.00002
|
|
NM_001369.3(DNAH5):c.9478T>C (p.Cys3160Arg)
|
rs770665819
|
0.00002
|
|
NM_001369.3(DNAH5):c.9670C>T (p.Leu3224=)
|
rs774995031
|
0.00002
|
|
NM_001369.3(DNAH5):c.967C>T (p.Leu323=)
|
rs746109550
|
0.00002
|
|
NM_001369.3(DNAH5):c.9918C>T (p.Ile3306=)
|
rs373676166
|
0.00002
|
|
NM_001369.3(DNAH5):c.9957C>T (p.Ile3319=)
|
rs766420895
|
0.00002
|
|
NM_001372.4(DNAH9):c.7183C>T (p.Arg2395Trp)
|
rs760224758
|
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.1312-19A>C
|
rs765345097
|
0.00002
|
|
NM_012144.4(DNAI1):c.1344C>T (p.Asn448=)
|
rs780830330
|
0.00002
|
|
NM_012144.4(DNAI1):c.1490-2A>G
|
rs775831317
|
0.00002
|
|
NM_012144.4(DNAI1):c.1503C>T (p.Ala501=)
|
rs377601344
|
0.00002
|
|
NM_012144.4(DNAI1):c.1569+16G>A
|
rs758538926
|
0.00002
|
|
NM_012144.4(DNAI1):c.1718+10C>T
|
rs538329068
|
0.00002
|
|
NM_012144.4(DNAI1):c.1719-12C>T
|
rs768943866
|
0.00002
|
|
NM_012144.4(DNAI1):c.174C>T (p.Thr58=)
|
rs752803659
|
0.00002
|
|
NM_012144.4(DNAI1):c.177T>C (p.Asp59=)
|
rs864622665
|
0.00002
|
|
NM_012144.4(DNAI1):c.1877C>T (p.Ala626Val)
|
rs565034311
|
0.00002
|
|
NM_012144.4(DNAI1):c.1884A>G (p.Lys628=)
|
rs544254178
|
0.00002
|
|
NM_012144.4(DNAI1):c.1890C>T (p.Asn630=)
|
rs767207402
|
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.2049G>A (p.Ala683=)
|
rs555612830
|
0.00002
|
|
NM_012144.4(DNAI1):c.2067G>C (p.Leu689=)
|
rs372932017
|
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.389-13G>A
|
rs376042885
|
0.00002
|
|
NM_012144.4(DNAI1):c.389-15C>T
|
rs886063881
|
0.00002
|
|
NM_012144.4(DNAI1):c.438A>C (p.Glu146Asp)
|
rs1490899457
|
0.00002
|
|
NM_012144.4(DNAI1):c.48+6G>C
|
rs962155265
|
0.00002
|
|
NM_012144.4(DNAI1):c.501+8A>G
|
rs187425808
|
0.00002
|
|
NM_012144.4(DNAI1):c.621+15A>C
|
rs780220968
|
0.00002
|
|
NM_012144.4(DNAI1):c.666A>C (p.Ser222=)
|
rs746805669
|
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_015512.5(DNAH1):c.1469A>G (p.His490Arg)
|
rs1449951214
|
0.00002
|
|
NM_015512.5(DNAH1):c.77T>C (p.Val26Ala)
|
rs772550201
|
0.00002
|
|
NM_015896.4(ZMYND10):c.1121+10G>A
|
rs970488934
|
0.00002
|
|
NM_015896.4(ZMYND10):c.202-16A>T
|
rs901861503
|
0.00002
|
|
NM_015896.4(ZMYND10):c.235G>A (p.Glu79Lys)
|
rs760700286
|
0.00002
|
|
NM_015896.4(ZMYND10):c.428G>A (p.Arg143His)
|
rs747944767
|
0.00002
|
|
NM_015896.4(ZMYND10):c.652C>G (p.Leu218Val)
|
rs1192317553
|
0.00002
|
|
NM_015896.4(ZMYND10):c.794C>T (p.Ala265Val)
|
rs149071790
|
0.00002
|
|
NM_015896.4(ZMYND10):c.878G>A (p.Arg293Gln)
|
rs763288032
|
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.1024+13G>A
|
rs773831457
|
0.00002
|
|
NM_017802.4(DNAAF5):c.1083C>A (p.Leu361=)
|
rs139756611
|
0.00002
|
|
NM_017802.4(DNAAF5):c.1092G>C (p.Leu364=)
|
rs535182648
|
0.00002
|
|
NM_017802.4(DNAAF5):c.1195G>A (p.Glu399Lys)
|
rs752282523
|
0.00002
|
|
NM_017802.4(DNAAF5):c.11T>C (p.Leu4Pro)
|
rs1314198845
|
0.00002
|
|
NM_017802.4(DNAAF5):c.1200C>T (p.Val400=)
|
rs763886047
|
0.00002
|
|
NM_017802.4(DNAAF5):c.1231G>A (p.Asp411Asn)
|
rs748404959
|
0.00002
|
|
NM_017802.4(DNAAF5):c.1234G>A (p.Glu412Lys)
|
rs1470477437
|
0.00002
|
|
NM_017802.4(DNAAF5):c.1287G>A (p.Thr429=)
|
rs143584365
|
0.00002
|
|
NM_017802.4(DNAAF5):c.1326G>A (p.Ser442=)
|
rs765964526
|
0.00002
|
|
NM_017802.4(DNAAF5):c.1374C>T (p.Ser458=)
|
rs150926878
|
0.00002
|
|
NM_017802.4(DNAAF5):c.1410G>A (p.Pro470=)
|
rs202182894
|
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.169C>T (p.Leu57=)
|
rs997702033
|
0.00002
|
|
NM_017802.4(DNAAF5):c.1705C>T (p.Arg569Trp)
|
rs375829727
|
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.1932-19C>T
|
rs762597761
|
0.00002
|
|
NM_017802.4(DNAAF5):c.1932-9C>T
|
rs1414724561
|
0.00002
|
|
NM_017802.4(DNAAF5):c.2083-17G>A
|
rs989302417
|
0.00002
|
|
NM_017802.4(DNAAF5):c.2263G>A (p.Val755Met)
|
rs777468194
|
0.00002
|
|
NM_017802.4(DNAAF5):c.2373C>T (p.Tyr791=)
|
rs748126716
|
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.2507G>A (p.Arg836His)
|
rs760802184
|
0.00002
|
|
NM_017802.4(DNAAF5):c.2523C>T (p.Cys841=)
|
rs370588837
|
0.00002
|
|
NM_017802.4(DNAAF5):c.2535G>A (p.Leu845=)
|
rs1326859026
|
0.00002
|
|
NM_017802.4(DNAAF5):c.289G>A (p.Val97Met)
|
rs1039028606
|
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_017802.4(DNAAF5):c.694G>A (p.Gly232Ser)
|
rs369123218
|
0.00002
|
|
NM_017802.4(DNAAF5):c.726C>G (p.Ser242=)
|
rs1372138610
|
0.00002
|
|
NM_017802.4(DNAAF5):c.758G>A (p.Arg253Gln)
|
rs545123585
|
0.00002
|
|
NM_017802.4(DNAAF5):c.771C>T (p.Asp257=)
|
rs757948608
|
0.00002
|
|
NM_017802.4(DNAAF5):c.781-8A>G
|
rs570735854
|
0.00002
|
|
NM_017802.4(DNAAF5):c.805G>A (p.Val269Met)
|
rs775434599
|
0.00002
|
|
NM_017802.4(DNAAF5):c.885C>T (p.Asn295=)
|
rs202161836
|
0.00002
|
|
NM_017802.4(DNAAF5):c.905+14C>T
|
rs559335413
|
0.00002
|
|
NM_017802.4(DNAAF5):c.905+18C>T
|
rs772079587
|
0.00002
|
|
NM_017950.4(CCDC40):c.1073dup (p.Arg359fs)
|
rs781507988
|
0.00002
|
|
NM_017950.4(CCDC40):c.1104C>T (p.Ala368=)
|
rs554805399
|
0.00002
|
|
NM_017950.4(CCDC40):c.1110C>T (p.Arg370=)
|
rs771454791
|
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.1318-5C>G
|
rs776369091
|
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.1440+15C>T
|
rs779133902
|
0.00002
|
|
NM_017950.4(CCDC40):c.1557G>A (p.Ala519=)
|
rs768646454
|
0.00002
|
|
NM_017950.4(CCDC40):c.1593C>T (p.Asp531=)
|
rs746661400
|
0.00002
|
|
NM_017950.4(CCDC40):c.18C>T (p.Gly6=)
|
rs533801756
|
0.00002
|
|
NM_017950.4(CCDC40):c.2117A>G (p.Asn706Ser)
|
rs2143744575
|
0.00002
|
|
NM_017950.4(CCDC40):c.2160G>A (p.Thr720=)
|
rs763129621
|
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.2298C>T (p.His766=)
|
rs754496723
|
0.00002
|
|
NM_017950.4(CCDC40):c.229G>A (p.Val77Met)
|
rs1211134541
|
0.00002
|
|
NM_017950.4(CCDC40):c.2309C>T (p.Ala770Val)
|
rs749795585
|
0.00002
|
|
NM_017950.4(CCDC40):c.2328C>T (p.Thr776=)
|
rs1225610254
|
0.00002
|
|
NM_017950.4(CCDC40):c.2488G>A (p.Glu830Lys)
|
rs374928230
|
0.00002
|
|
NM_017950.4(CCDC40):c.2652C>G (p.Asp884Glu)
|
rs368398257
|
0.00002
|
|
NM_017950.4(CCDC40):c.2671G>A (p.Glu891Lys)
|
rs773796940
|
0.00002
|
|
NM_017950.4(CCDC40):c.2712-17C>T
|
rs748456488
|
0.00002
|
|
NM_017950.4(CCDC40):c.2832+17G>A
|
rs372095253
|
0.00002
|
|
NM_017950.4(CCDC40):c.2962C>T (p.Arg988Cys)
|
rs757374609
|
0.00002
|
|
NM_017950.4(CCDC40):c.3013G>A (p.Val1005Ile)
|
rs775788498
|
0.00002
|
|
NM_017950.4(CCDC40):c.3021+8G>A
|
rs1434081760
|
0.00002
|
|
NM_017950.4(CCDC40):c.3045C>T (p.Thr1015=)
|
rs1474341938
|
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.3138A>T (p.Thr1046=)
|
rs1348288263
|
0.00002
|
|
NM_017950.4(CCDC40):c.3212G>A (p.Arg1071His)
|
rs142135083
|
0.00002
|
|
NM_017950.4(CCDC40):c.3298C>T (p.Leu1100=)
|
rs771675638
|
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.399C>T (p.Ser133=)
|
rs371207249
|
0.00002
|
|
NM_017950.4(CCDC40):c.553-3T>C
|
rs779799024
|
0.00002
|
|
NM_017950.4(CCDC40):c.590C>A (p.Pro197Gln)
|
rs771364741
|
0.00002
|
|
NM_017950.4(CCDC40):c.592A>G (p.Met198Val)
|
rs774843139
|
0.00002
|
|
NM_017950.4(CCDC40):c.655G>A (p.Glu219Lys)
|
rs1277342777
|
0.00002
|
|
NM_017950.4(CCDC40):c.677-8C>T
|
rs762961824
|
0.00002
|
|
NM_017950.4(CCDC40):c.759C>T (p.Thr253=)
|
rs183808038
|
0.00002
|
|
NM_017950.4(CCDC40):c.831G>A (p.Gln277=)
|
rs771932934
|
0.00002
|
|
NM_017950.4(CCDC40):c.902G>A (p.Arg301Gln)
|
rs191632512
|
0.00002
|
|
NM_017950.4(CCDC40):c.929T>A (p.Leu310His)
|
rs1209777694
|
0.00002
|
|
NM_017950.4(CCDC40):c.941T>C (p.Val314Ala)
|
rs758488439
|
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.118G>T (p.Ala40Ser)
|
rs765847926
|
0.00002
|
|
NM_018139.3(DNAAF2):c.1228T>C (p.Ser410Pro)
|
rs746189091
|
0.00002
|
|
NM_018139.3(DNAAF2):c.1415C>T (p.Ser472Phe)
|
rs760270240
|
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.168C>T (p.Ile56=)
|
rs768247249
|
0.00002
|
|
NM_018139.3(DNAAF2):c.1779T>C (p.Asn593=)
|
rs771945945
|
0.00002
|
|
NM_018139.3(DNAAF2):c.1891G>A (p.Val631Ile)
|
rs183126428
|
0.00002
|
|
NM_018139.3(DNAAF2):c.2196T>C (p.Ser732=)
|
rs753031545
|
0.00002
|
|
NM_018139.3(DNAAF2):c.2313C>T (p.Asn771=)
|
rs749855090
|
0.00002
|
|
NM_018139.3(DNAAF2):c.2373C>T (p.Asn791=)
|
rs752095211
|
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.315C>G (p.Pro105=)
|
rs899878401
|
0.00002
|
|
NM_018139.3(DNAAF2):c.374T>C (p.Leu125Pro)
|
rs771875922
|
0.00002
|
|
NM_018139.3(DNAAF2):c.404G>A (p.Ser135Asn)
|
rs759580456
|
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.788T>C (p.Val263Ala)
|
rs564215636
|
0.00002
|
|
NM_018139.3(DNAAF2):c.86A>T (p.Asp29Val)
|
rs377462381
|
0.00002
|
|
NM_018139.3(DNAAF2):c.937A>G (p.Lys313Glu)
|
rs777195189
|
0.00002
|
|
NM_018139.3(DNAAF2):c.950G>A (p.Arg317Gln)
|
rs374063062
|
0.00002
|
|
NM_021147.5(CCNO):c.265C>G (p.Pro89Ala)
|
rs764171316
|
0.00002
|
|
NM_021147.5(CCNO):c.281A>G (p.Asp94Gly)
|
rs892790252
|
0.00002
|
|
NM_021147.5(CCNO):c.301T>C (p.Tyr101His)
|
rs769780049
|
0.00002
|
|
NM_021147.5(CCNO):c.462G>A (p.Leu154=)
|
rs778310459
|
0.00002
|
|
NM_021147.5(CCNO):c.553_554del (p.Ile185fs)
|
rs1745611424
|
0.00002
|
|
NM_021147.5(CCNO):c.785C>T (p.Ala262Val)
|
rs150766906
|
0.00002
|
|
NM_023036.6(DNAI2):c.1017G>A (p.Gln339=)
|
rs191031963
|
0.00002
|
|
NM_023036.6(DNAI2):c.1039C>T (p.Arg347Cys)
|
rs774602317
|
0.00002
|
|
NM_023036.6(DNAI2):c.1095C>T (p.Gly365=)
|
rs746037775
|
0.00002
|
|
NM_023036.6(DNAI2):c.1105G>A (p.Ala369Thr)
|
rs1263482357
|
0.00002
|
|
NM_023036.6(DNAI2):c.1152C>T (p.Gly384=)
|
rs762652711
|
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.1348-1G>A
|
rs745755917
|
0.00002
|
|
NM_023036.6(DNAI2):c.1398C>T (p.Leu466=)
|
rs2053424769
|
0.00002
|
|
NM_023036.6(DNAI2):c.1402G>A (p.Ala468Thr)
|
rs775110998
|
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.147G>T (p.Thr49=)
|
rs369017940
|
0.00002
|
|
NM_023036.6(DNAI2):c.1494+10G>A
|
rs750207891
|
0.00002
|
|
NM_023036.6(DNAI2):c.1504C>T (p.Arg502Cys)
|
rs374710603
|
0.00002
|
|
NM_023036.6(DNAI2):c.1530G>A (p.Leu510=)
|
rs747447796
|
0.00002
|
|
NM_023036.6(DNAI2):c.1575G>A (p.Ala525=)
|
rs767324607
|
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.183+12C>T
|
rs763473211
|
0.00002
|
|
NM_023036.6(DNAI2):c.183+14C>T
|
rs1278958838
|
0.00002
|
|
NM_023036.6(DNAI2):c.184-15C>T
|
rs774597549
|
0.00002
|
|
NM_023036.6(DNAI2):c.409G>A (p.Glu137Lys)
|
rs112650114
|
0.00002
|
|
NM_023036.6(DNAI2):c.546C>A (p.Tyr182Ter)
|
rs770946088
|
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.690C>T (p.His230=)
|
rs1357983198
|
0.00002
|
|
NM_023036.6(DNAI2):c.773T>C (p.Ile258Thr)
|
rs560319154
|
0.00002
|
|
NM_023036.6(DNAI2):c.788G>A (p.Arg263Gln)
|
rs768312326
|
0.00002
|
|
NM_023036.6(DNAI2):c.85A>G (p.Ile29Val)
|
rs747104814
|
0.00002
|
|
NM_023036.6(DNAI2):c.864+14A>G
|
rs1445430852
|
0.00002
|
|
NM_023036.6(DNAI2):c.87C>T (p.Ile29=)
|
rs768747332
|
0.00002
|
|
NM_023036.6(DNAI2):c.894C>T (p.Ser298=)
|
rs568996957
|
0.00002
|
|
NM_023036.6(DNAI2):c.922A>G (p.Ile308Val)
|
rs374277039
|
0.00002
|
|
NM_031427.4(DNAL1):c.22_24del (p.Lys8del)
|
rs779309893
|
0.00002
|
|
NM_080860.4(RSPH1):c.196C>T (p.Arg66Ter)
|
rs753105954
|
0.00002
|
|
NM_080860.4(RSPH1):c.295C>T (p.Arg99Trp)
|
rs770359437
|
0.00002
|
|
NM_080860.4(RSPH1):c.325A>G (p.Asn109Asp)
|
rs533343864
|
0.00002
|
|
NM_080860.4(RSPH1):c.366-3C>A
|
rs587777058
|
0.00002
|
|
NM_080860.4(RSPH1):c.391G>A (p.Ala131Thr)
|
rs781199496
|
0.00002
|
|
NM_080860.4(RSPH1):c.399G>A (p.Thr133=)
|
rs760016966
|
0.00002
|
|
NM_080860.4(RSPH1):c.573+10G>A
|
rs907937418
|
0.00002
|
|
NM_080860.4(RSPH1):c.636C>T (p.Thr212=)
|
rs765328542
|
0.00002
|
|
NM_080860.4(RSPH1):c.705C>T (p.Gly235=)
|
rs779232968
|
0.00002
|
|
NM_080860.4(RSPH1):c.727+16G>A
|
rs571130499
|
0.00002
|
|
NM_080860.4(RSPH1):c.824G>A (p.Arg275Gln)
|
rs376500424
|
0.00002
|
|
NM_080860.4(RSPH1):c.84C>T (p.Gly28=)
|
rs769799375
|
0.00002
|
|
NM_130810.4(DNAAF4):c.856G>T (p.Glu286Ter)
|
rs770136467
|
0.00002
|
|
NM_145038.5(DRC1):c.1163+10G>A
|
rs1285517960
|
0.00002
|
|
NM_145038.5(DRC1):c.1164-9C>T
|
rs781189009
|
0.00002
|
|
NM_145038.5(DRC1):c.14G>A (p.Gly5Glu)
|
rs767420758
|
0.00002
|
|
NM_145038.5(DRC1):c.1600-8C>T
|
rs375365371
|
0.00002
|
|
NM_145038.5(DRC1):c.1639G>A (p.Val547Met)
|
rs760306333
|
0.00002
|
|
NM_145038.5(DRC1):c.1669C>T (p.Arg557Cys)
|
rs779986198
|
0.00002
|
|
NM_145038.5(DRC1):c.1815G>A (p.Gly605=)
|
rs748482443
|
0.00002
|
|
NM_145038.5(DRC1):c.1873G>A (p.Val625Ile)
|
rs780099607
|
0.00002
|
|
NM_145038.5(DRC1):c.2044A>G (p.Thr682Ala)
|
rs772128135
|
0.00002
|
|
NM_145038.5(DRC1):c.2126C>T (p.Thr709Ile)
|
rs767091604
|
0.00002
|
|
NM_145038.5(DRC1):c.2167-5T>C
|
rs560788801
|
0.00002
|
|
NM_145038.5(DRC1):c.2207G>A (p.Arg736Gln)
|
rs761603781
|
0.00002
|
|
NM_145038.5(DRC1):c.313G>A (p.Glu105Lys)
|
rs759868480
|
0.00002
|
|
NM_145038.5(DRC1):c.344dup (p.Arg117fs)
|
rs747358703
|
0.00002
|
|
NM_145038.5(DRC1):c.463G>A (p.Glu155Lys)
|
rs574881831
|
0.00002
|
|
NM_145038.5(DRC1):c.561C>T (p.Asp187=)
|
rs147573624
|
0.00002
|
|
NM_145038.5(DRC1):c.603C>T (p.Cys201=)
|
rs773865451
|
0.00002
|
|
NM_145038.5(DRC1):c.765+17G>A
|
rs934949015
|
0.00002
|
|
NM_145038.5(DRC1):c.87C>T (p.Ser29=)
|
rs768704103
|
0.00002
|
|
NM_152732.5(RSPH9):c.129G>A (p.Arg43=)
|
rs562835719
|
0.00002
|
|
NM_152732.5(RSPH9):c.227+15G>T
|
rs762510566
|
0.00002
|
|
NM_152732.5(RSPH9):c.249C>A (p.Ser83Arg)
|
rs773953326
|
0.00002
|
|
NM_152732.5(RSPH9):c.330A>G (p.Glu110=)
|
rs760134926
|
0.00002
|
|
NM_152732.5(RSPH9):c.471C>T (p.Gly157=)
|
rs772977982
|
0.00002
|
|
NM_152732.5(RSPH9):c.798C>T (p.Gly266=)
|
rs770913202
|
0.00002
|
|
NM_178452.6(DNAAF1):c.1007G>A (p.Arg336Lys)
|
rs1029568409
|
0.00002
|
|
NM_178452.6(DNAAF1):c.1012del (p.Arg338fs)
|
rs762843285
|
0.00002
|
|
NM_178452.6(DNAAF1):c.110G>A (p.Gly37Glu)
|
rs193069859
|
0.00002
|
|
NM_178452.6(DNAAF1):c.114C>T (p.Gly38=)
|
rs772497904
|
0.00002
|
|
NM_178452.6(DNAAF1):c.1259C>G (p.Thr420Ser)
|
rs1165621423
|
0.00002
|
|
NM_178452.6(DNAAF1):c.1284G>A (p.Glu428=)
|
rs565078092
|
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.1645-9C>A
|
rs775351767
|
0.00002
|
|
NM_178452.6(DNAAF1):c.1853G>A (p.Arg618Gln)
|
rs372901697
|
0.00002
|
|
NM_178452.6(DNAAF1):c.1864A>C (p.Thr622Pro)
|
rs922771205
|
0.00002
|
|
NM_178452.6(DNAAF1):c.1906C>T (p.Arg636Ter)
|
rs748869874
|
0.00002
|
|
NM_178452.6(DNAAF1):c.2014C>G (p.Leu672Val)
|
rs761549054
|
0.00002
|
|
NM_178452.6(DNAAF1):c.2063C>T (p.Pro688Leu)
|
rs149659582
|
0.00002
|
|
NM_178452.6(DNAAF1):c.2065+8C>T
|
rs761990499
|
0.00002
|
|
NM_178452.6(DNAAF1):c.2106C>T (p.Val702=)
|
rs765561180
|
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.598T>C (p.Leu200=)
|
rs776685379
|
0.00002
|
|
NM_178452.6(DNAAF1):c.626C>G (p.Thr209Ser)
|
rs758172044
|
0.00002
|
|
NM_178452.6(DNAAF1):c.638T>C (p.Ile213Thr)
|
rs1433999083
|
0.00002
|
|
NM_178452.6(DNAAF1):c.743G>A (p.Arg248His)
|
rs139283232
|
0.00002
|
|
NM_178452.6(DNAAF1):c.811C>T (p.Arg271Ter)
|
rs267607225
|
0.00002
|
|
NM_178452.6(DNAAF1):c.83C>T (p.Ala28Val)
|
rs775095917
|
0.00002
|
|
NM_178452.6(DNAAF1):c.863+8G>A
|
rs553865821
|
0.00002
|
|
NM_181426.2(CCDC39):c.1035-10C>A
|
rs763268079
|
0.00002
|
|
NM_181426.2(CCDC39):c.1065A>C (p.Ile355=)
|
rs200840073
|
0.00002
|
|
NM_181426.2(CCDC39):c.1247A>G (p.Glu416Gly)
|
rs757515577
|
0.00002
|
|
NM_181426.2(CCDC39):c.135A>G (p.Leu45=)
|
rs1296166088
|
0.00002
|
|
NM_181426.2(CCDC39):c.1363-12A>T
|
rs1296249355
|
0.00002
|
|
NM_181426.2(CCDC39):c.1486T>A (p.Ser496Thr)
|
rs951458613
|
0.00002
|
|
NM_181426.2(CCDC39):c.1506A>G (p.Glu502=)
|
rs764926561
|
0.00002
|
|
NM_181426.2(CCDC39):c.157A>C (p.Asn53His)
|
rs778274253
|
0.00002
|
|
NM_181426.2(CCDC39):c.207A>G (p.Thr69=)
|
rs746483493
|
0.00002
|
|
NM_181426.2(CCDC39):c.219C>T (p.Cys73=)
|
rs766631443
|
0.00002
|
|
NM_181426.2(CCDC39):c.2325A>G (p.Leu775=)
|
rs748476314
|
0.00002
|
|
NM_181426.2(CCDC39):c.2346A>G (p.Ser782=)
|
rs1196118420
|
0.00002
|
|
NM_181426.2(CCDC39):c.2407-20T>C
|
rs776677497
|
0.00002
|
|
NM_181426.2(CCDC39):c.2431C>T (p.Arg811Cys)
|
rs574993914
|
0.00002
|
|
NM_181426.2(CCDC39):c.2485C>T (p.Arg829Cys)
|
rs781020567
|
0.00002
|
|
NM_181426.2(CCDC39):c.2486G>A (p.Arg829His)
|
rs528863074
|
0.00002
|
|
NM_181426.2(CCDC39):c.2532T>C (p.Asp844=)
|
rs756870084
|
0.00002
|
|
NM_181426.2(CCDC39):c.2555T>A (p.Ile852Asn)
|
rs764437057
|
0.00002
|
|
NM_181426.2(CCDC39):c.2565C>A (p.Ile855=)
|
rs780932724
|
0.00002
|
|
NM_181426.2(CCDC39):c.2669+19A>G
|
rs1366482401
|
0.00002
|
|
NM_181426.2(CCDC39):c.2669+7G>A
|
rs201606383
|
0.00002
|
|
NM_181426.2(CCDC39):c.270T>G (p.Ala90=)
|
rs757962474
|
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_181426.2(CCDC39):c.424G>A (p.Ala142Thr)
|
rs754066480
|
0.00002
|
|
NM_181426.2(CCDC39):c.930+14A>C
|
rs751268978
|
0.00002
|
|
NM_181426.2(CCDC39):c.931-16G>A
|
rs1204428535
|
0.00002
|
|
NM_213607.3(DNAAF19):c.181C>T (p.Arg61Trp)
|
rs763938078
|
0.00002
|
|
NM_213607.3(DNAAF19):c.310G>C (p.Asp104His)
|
rs750876442
|
0.00002
|
|
NM_213607.3(DNAAF19):c.331C>T (p.Arg111Ter)
|
rs141004815
|
0.00002
|
|
NM_213607.3(DNAAF19):c.462C>T (p.His154=)
|
rs376355128
|
0.00002
|
|
NM_213607.3(DNAAF19):c.478C>T (p.Arg160Trp)
|
rs143476313
|
0.00002
|
|
NM_213607.3(DNAAF19):c.552C>T (p.Ser184=)
|
rs373501432
|
0.00002
|
|
NM_213607.3(DNAAF19):c.554G>A (p.Arg185Gln)
|
rs182319938
|
0.00002
|
|
NC_000023.11:g.38269737G>C
|
rs1342166642
|
0.00001
|
|
NC_000023.11:g.38269828A>G
|
rs749685289
|
0.00001
|
|
NC_000023.11:g.38273386C>T
|
rs757598542
|
0.00001
|
|
NC_000023.11:g.38275121C>T
|
rs758849023
|
0.00001
|
|
NC_000023.11:g.38276655C>T
|
rs750741536
|
0.00001
|
|
NC_000023.11:g.38276710A>C
|
rs1007967007
|
0.00001
|
|
NC_000023.11:g.38276769G>C
|
rs1386160264
|
0.00001
|
|
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.1082G>T (p.Gly361Val)
|
rs757303224
|
0.00001
|
|
NM_001010892.3(RSPH4A):c.1089A>C (p.Glu363Asp)
|
rs758997589
|
0.00001
|
|
NM_001010892.3(RSPH4A):c.1111G>A (p.Val371Met)
|
rs1379993014
|
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.1204G>A (p.Glu402Lys)
|
rs945197853
|
0.00001
|
|
NM_001010892.3(RSPH4A):c.1221A>G (p.Pro407=)
|
rs1042214742
|
0.00001
|
|
NM_001010892.3(RSPH4A):c.1241C>T (p.Pro414Leu)
|
rs1394282681
|
0.00001
|
|
NM_001010892.3(RSPH4A):c.1246G>T (p.Ala416Ser)
|
rs765312681
|
0.00001
|
|
NM_001010892.3(RSPH4A):c.1261G>T (p.Glu421Ter)
|
rs751963395
|
0.00001
|
|
NM_001010892.3(RSPH4A):c.1287T>C (p.Tyr429=)
|
rs1775726586
|
0.00001
|
|
NM_001010892.3(RSPH4A):c.134C>T (p.Ala45Val)
|
rs372113802
|
0.00001
|
|
NM_001010892.3(RSPH4A):c.1361T>C (p.Ile454Thr)
|
rs752047678
|
0.00001
|
|
NM_001010892.3(RSPH4A):c.1379A>G (p.Lys460Arg)
|
rs1436491672
|
0.00001
|
|
NM_001010892.3(RSPH4A):c.1391G>A (p.Gly464Glu)
|
rs753041231
|
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.1478C>A (p.Ala493Glu)
|
rs753449428
|
0.00001
|
|
NM_001010892.3(RSPH4A):c.1488C>T (p.His496=)
|
rs367598099
|
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.1531G>A (p.Glu511Lys)
|
rs1221446542
|
0.00001
|
|
NM_001010892.3(RSPH4A):c.1548A>T (p.Ala516=)
|
rs774482835
|
0.00001
|
|
NM_001010892.3(RSPH4A):c.1558C>T (p.Arg520Ter)
|
rs767646489
|
0.00001
|
|
NM_001010892.3(RSPH4A):c.15C>A (p.Thr5=)
|
rs2115350772
|
0.00001
|
|
NM_001010892.3(RSPH4A):c.1628A>G (p.Asn543Ser)
|
rs147813674
|
0.00001
|
|
NM_001010892.3(RSPH4A):c.1666C>T (p.Arg556Cys)
|
rs777653223
|
0.00001
|
|
NM_001010892.3(RSPH4A):c.1705G>A (p.Glu569Lys)
|
rs1391501802
|
0.00001
|
|
NM_001010892.3(RSPH4A):c.1764G>A (p.Gly588=)
|
rs376516018
|
0.00001
|
|
NM_001010892.3(RSPH4A):c.1806G>T (p.Gln602His)
|
rs1775775547
|
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.1861A>G (p.Ile621Val)
|
rs748272434
|
0.00001
|
|
NM_001010892.3(RSPH4A):c.1912G>A (p.Gly638Ser)
|
rs370338820
|
0.00001
|
|
NM_001010892.3(RSPH4A):c.1917-15T>G
|
rs905247793
|
0.00001
|
|
NM_001010892.3(RSPH4A):c.1917-3T>C
|
rs757886950
|
0.00001
|
|
NM_001010892.3(RSPH4A):c.1934A>G (p.Tyr645Cys)
|
rs746646378
|
0.00001
|
|
NM_001010892.3(RSPH4A):c.2017C>A (p.Pro673Thr)
|
rs920942886
|
0.00001
|
|
NM_001010892.3(RSPH4A):c.206C>T (p.Thr69Met)
|
rs1398453218
|
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.266A>G (p.Glu89Gly)
|
rs750605299
|
0.00001
|
|
NM_001010892.3(RSPH4A):c.279T>C (p.Ser93=)
|
rs755522050
|
0.00001
|
|
NM_001010892.3(RSPH4A):c.325C>T (p.Gln109Ter)
|
rs118204042
|
0.00001
|
|
NM_001010892.3(RSPH4A):c.430C>T (p.Gln144Ter)
|
rs756868889
|
0.00001
|
|
NM_001010892.3(RSPH4A):c.488G>A (p.Arg163Gln)
|
rs1215954352
|
0.00001
|
|
NM_001010892.3(RSPH4A):c.492G>A (p.Arg164=)
|
rs532331878
|
0.00001
|
|
NM_001010892.3(RSPH4A):c.540T>C (p.Val180=)
|
rs754223456
|
0.00001
|
|
NM_001010892.3(RSPH4A):c.563G>A (p.Ser188Asn)
|
rs376372993
|
0.00001
|
|
NM_001010892.3(RSPH4A):c.686+13G>A
|
rs1326496137
|
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.730C>T (p.Arg244Cys)
|
rs778774449
|
0.00001
|
|
NM_001010892.3(RSPH4A):c.803T>C (p.Phe268Ser)
|
rs774797157
|
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_001010892.3(RSPH4A):c.921+2T>C
|
rs1406268554
|
0.00001
|
|
NM_001010892.3(RSPH4A):c.922-11T>G
|
rs758250404
|
0.00001
|
|
NM_001010892.3(RSPH4A):c.922-18C>T
|
rs1232890638
|
0.00001
|
|
NM_001010892.3(RSPH4A):c.943G>A (p.Val315Ile)
|
rs1450524623
|
0.00001
|
|
NM_001010892.3(RSPH4A):c.965T>C (p.Phe322Ser)
|
rs1428425636
|
0.00001
|
|
NM_001034853.2(RPGR):c.1065T>C (p.Ala355=)
|
rs1306705265
|
0.00001
|
|
NM_001034853.2(RPGR):c.106G>T (p.Val36Phe)
|
rs62638628
|
0.00001
|
|
NM_001034853.2(RPGR):c.1106G>A (p.Arg369His)
|
rs1409862085
|
0.00001
|
|
NM_001034853.2(RPGR):c.1175C>T (p.Pro392Leu)
|
rs372004762
|
0.00001
|
|
NM_001034853.2(RPGR):c.1200T>C (p.Asn400=)
|
rs768625051
|
0.00001
|
|
NM_001034853.2(RPGR):c.1208A>G (p.Gln403Arg)
|
rs1175561018
|
0.00001
|
|
NM_001034853.2(RPGR):c.1226G>A (p.Arg409His)
|
rs746041459
|
0.00001
|
|
NM_001034853.2(RPGR):c.1251G>A (p.Arg417=)
|
rs1274377617
|
0.00001
|
|
NM_001034853.2(RPGR):c.1254T>C (p.Ser418=)
|
rs1219995087
|
0.00001
|
|
NM_001034853.2(RPGR):c.1273A>G (p.Arg425Gly)
|
rs749334487
|
0.00001
|
|
NM_001034853.2(RPGR):c.1320T>C (p.Cys440=)
|
rs1217157110
|
0.00001
|
|
NM_001034853.2(RPGR):c.1348T>C (p.Cys450Arg)
|
rs794727019
|
0.00001
|
|
NM_001034853.2(RPGR):c.1356G>A (p.Glu452=)
|
rs763638295
|
0.00001
|
|
NM_001034853.2(RPGR):c.1437C>G (p.Thr479=)
|
rs1048927882
|
0.00001
|
|
NM_001034853.2(RPGR):c.1445C>T (p.Ala482Val)
|
rs1569240928
|
0.00001
|
|
NM_001034853.2(RPGR):c.1484A>G (p.Glu495Gly)
|
rs2088299654
|
0.00001
|
|
NM_001034853.2(RPGR):c.1486A>C (p.Thr496Pro)
|
rs2519808415
|
0.00001
|
|
NM_001034853.2(RPGR):c.1493A>G (p.Asp498Gly)
|
rs1163013962
|
0.00001
|
|
NM_001034853.2(RPGR):c.1519A>G (p.Ser507Gly)
|
rs772557101
|
0.00001
|
|
NM_001034853.2(RPGR):c.151A>G (p.Thr51Ala)
|
rs757275147
|
0.00001
|
|
NM_001034853.2(RPGR):c.1524G>A (p.Leu508=)
|
rs1044418804
|
0.00001
|
|
NM_001034853.2(RPGR):c.1575A>G (p.Lys525=)
|
rs761895475
|
0.00001
|
|
NM_001034853.2(RPGR):c.1590G>A (p.Gly530=)
|
rs375288851
|
0.00001
|
|
NM_001034853.2(RPGR):c.1597A>G (p.Thr533Ala)
|
rs2067220112
|
0.00001
|
|
NM_001034853.2(RPGR):c.1599G>A (p.Thr533=)
|
rs368883287
|
0.00001
|
|
NM_001034853.2(RPGR):c.1624G>A (p.Asp542Asn)
|
rs1159969109
|
0.00001
|
|
NM_001034853.2(RPGR):c.1653A>G (p.Ser551=)
|
rs747017740
|
0.00001
|
|
NM_001034853.2(RPGR):c.1695A>G (p.Gln565=)
|
rs1315296776
|
0.00001
|
|
NM_001034853.2(RPGR):c.16G>C (p.Glu6Gln)
|
rs1199553512
|
0.00001
|
|
NM_001034853.2(RPGR):c.1726A>G (p.Ile576Val)
|
rs1242143931
|
0.00001
|
|
NM_001034853.2(RPGR):c.1754-7T>G
|
rs200174242
|
0.00001
|
|
NM_001034853.2(RPGR):c.1754-9G>A
|
rs762495217
|
0.00001
|
|
NM_001034853.2(RPGR):c.1763A>G (p.Glu588Gly)
|
rs1222240619
|
0.00001
|
|
NM_001034853.2(RPGR):c.1777G>A (p.Ala593Thr)
|
rs1490761121
|
0.00001
|
|
NM_001034853.2(RPGR):c.1784A>T (p.Asp595Val)
|
rs761787495
|
0.00001
|
|
NM_001034853.2(RPGR):c.2135A>G (p.Gln712Arg)
|
rs749852225
|
0.00001
|
|
NM_001034853.2(RPGR):c.2203C>T (p.His735Tyr)
|
rs1418355872
|
0.00001
|
|
NM_001034853.2(RPGR):c.2408G>A (p.Gly803Glu)
|
rs1365914853
|
0.00001
|
|
NM_001034853.2(RPGR):c.2425G>C (p.Glu809Gln)
|
rs1168146969
|
0.00001
|
|
NM_001034853.2(RPGR):c.2427G>A (p.Glu809=)
|
rs774543262
|
0.00001
|
|
NM_001034853.2(RPGR):c.248-8A>G
|
rs775563204
|
0.00001
|
|
NM_001034853.2(RPGR):c.2543del (p.Glu848fs)
|
rs1233849070
|
0.00001
|
|
NM_001034853.2(RPGR):c.2691G>A (p.Glu897=)
|
rs2519787955
|
0.00001
|
|
NM_001034853.2(RPGR):c.28+10G>C
|
rs754724798
|
0.00001
|
|
NM_001034853.2(RPGR):c.2821G>T (p.Gly941Trp)
|
rs763102799
|
0.00001
|
|
NM_001034853.2(RPGR):c.311-1G>A
|
rs1156891581
|
0.00001
|
|
NM_001034853.2(RPGR):c.3151G>A (p.Glu1051Lys)
|
rs1235791633
|
0.00001
|
|
NM_001034853.2(RPGR):c.320A>G (p.Asn107Ser)
|
rs748199207
|
0.00001
|
|
NM_001034853.2(RPGR):c.392A>G (p.His131Arg)
|
rs2067876912
|
0.00001
|
|
NM_001034853.2(RPGR):c.444A>T (p.Gly148=)
|
rs752286330
|
0.00001
|
|
NM_001034853.2(RPGR):c.453T>G (p.Thr151=)
|
rs759398299
|
0.00001
|
|
NM_001034853.2(RPGR):c.603T>C (p.His201=)
|
rs765580620
|
0.00001
|
|
NM_001034853.2(RPGR):c.619+8A>G
|
rs1230328335
|
0.00001
|
|
NM_001034853.2(RPGR):c.620-16A>G
|
rs1235442896
|
0.00001
|
|
NM_001034853.2(RPGR):c.633A>G (p.Leu211=)
|
rs760768561
|
0.00001
|
|
NM_001034853.2(RPGR):c.673C>T (p.Pro225Ser)
|
rs150477878
|
0.00001
|
|
NM_001034853.2(RPGR):c.677A>G (p.Asn226Ser)
|
rs760123267
|
0.00001
|
|
NM_001034853.2(RPGR):c.746C>T (p.Ala249Val)
|
rs1251721610
|
0.00001
|
|
NM_001034853.2(RPGR):c.750T>C (p.Cys250=)
|
rs745651741
|
0.00001
|
|
NM_001034853.2(RPGR):c.778+11A>G
|
rs757902808
|
0.00001
|
|
NM_001034853.2(RPGR):c.779-7C>G
|
rs2519847644
|
0.00001
|
|
NM_001034853.2(RPGR):c.82G>A (p.Gly28Ser)
|
rs779957555
|
0.00001
|
|
NM_001034853.2(RPGR):c.918C>T (p.His306=)
|
rs912300297
|
0.00001
|
|
NM_001034853.2(RPGR):c.942C>T (p.Gly314=)
|
rs968408956
|
0.00001
|
|
NM_001034853.2(RPGR):c.968G>A (p.Arg323His)
|
rs2067497181
|
0.00001
|
|
NM_001034853.2(RPGR):c.969C>T (p.Arg323=)
|
rs1308025811
|
0.00001
|
|
NM_001190787.3(MCIDAS):c.109C>G (p.Pro37Ala)
|
rs751775414
|
0.00001
|
|
NM_001190787.3(MCIDAS):c.1125C>T (p.Asn375=)
|
rs1295889761
|
0.00001
|
|
NM_001190787.3(MCIDAS):c.1151C>A (p.Pro384His)
|
rs939457499
|
0.00001
|
|
NM_001190787.3(MCIDAS):c.121-7C>T
|
rs557532764
|
0.00001
|
|
NM_001190787.3(MCIDAS):c.14G>A (p.Gly5Glu)
|
rs1438648674
|
0.00001
|
|
NM_001190787.3(MCIDAS):c.155C>T (p.Thr52Ile)
|
rs896487065
|
0.00001
|
|
NM_001190787.3(MCIDAS):c.218-16C>G
|
rs1016989420
|
0.00001
|
|
NM_001190787.3(MCIDAS):c.21C>G (p.Gly7=)
|
rs1325394303
|
0.00001
|
|
NM_001190787.3(MCIDAS):c.226A>G (p.Thr76Ala)
|
rs998351403
|
0.00001
|
|
NM_001190787.3(MCIDAS):c.228C>T (p.Thr76=)
|
rs892066931
|
0.00001
|
|
NM_001190787.3(MCIDAS):c.268G>A (p.Gly90Arg)
|
rs1251186024
|
0.00001
|
|
NM_001190787.3(MCIDAS):c.277G>C (p.Ala93Pro)
|
rs115971569
|
0.00001
|
|
NM_001190787.3(MCIDAS):c.303C>G (p.Ala101=)
|
rs1377331198
|
0.00001
|
|
NM_001190787.3(MCIDAS):c.306G>T (p.Ser102=)
|
rs1454025753
|
0.00001
|
|
NM_001190787.3(MCIDAS):c.309+8C>T
|
rs1419975153
|
0.00001
|
|
NM_001190787.3(MCIDAS):c.310-11G>T
|
rs1258770433
|
0.00001
|
|
NM_001190787.3(MCIDAS):c.382+18G>T
|
rs893440498
|
0.00001
|
|
NM_001190787.3(MCIDAS):c.42C>T (p.Phe14=)
|
rs745962633
|
0.00001
|
|
NM_001190787.3(MCIDAS):c.453A>C (p.Pro151=)
|
rs958306928
|
0.00001
|
|
NM_001190787.3(MCIDAS):c.475C>G (p.Pro159Ala)
|
rs1439093107
|
0.00001
|
|
NM_001190787.3(MCIDAS):c.489G>A (p.Arg163=)
|
rs997588146
|
0.00001
|
|
NM_001190787.3(MCIDAS):c.521A>G (p.Asp174Gly)
|
rs1246951723
|
0.00001
|
|
NM_001190787.3(MCIDAS):c.550G>A (p.Glu184Lys)
|
rs1031042671
|
0.00001
|
|
NM_001190787.3(MCIDAS):c.577T>C (p.Leu193=)
|
rs12514445
|
0.00001
|
|
NM_001190787.3(MCIDAS):c.606+17G>A
|
rs1048243355
|
0.00001
|
|
NM_001190787.3(MCIDAS):c.618A>G (p.Thr206=)
|
rs1420024900
|
0.00001
|
|
NM_001190787.3(MCIDAS):c.690A>C (p.Arg230=)
|
rs1215757911
|
0.00001
|
|
NM_001190787.3(MCIDAS):c.750G>A (p.Gly250=)
|
rs1299808054
|
0.00001
|
|
NM_001190787.3(MCIDAS):c.84G>T (p.Arg28=)
|
rs898579382
|
0.00001
|
|
NM_001190787.3(MCIDAS):c.882C>T (p.Ala294=)
|
rs1256781616
|
0.00001
|
|
NM_001190787.3(MCIDAS):c.893G>A (p.Arg298His)
|
rs757280816
|
0.00001
|
|
NM_001190787.3(MCIDAS):c.8C>A (p.Ala3Glu)
|
rs1268527093
|
0.00001
|
|
NM_001190787.3(MCIDAS):c.930G>A (p.Ala310=)
|
rs1047248559
|
0.00001
|
|
NM_001190787.3(MCIDAS):c.950G>A (p.Gly317Glu)
|
rs1745334815
|
0.00001
|
|
NM_001206927.2(DNAH8):c.10102G>C (p.Ala3368Pro)
|
rs1287947453
|
0.00001
|
|
NM_001206927.2(DNAH8):c.10140+15G>T
|
rs1457580799
|
0.00001
|
|
NM_001206927.2(DNAH8):c.10299G>A (p.Glu3433=)
|
rs1215778387
|
0.00001
|
|
NM_001206927.2(DNAH8):c.102G>A (p.Pro34=)
|
rs767245332
|
0.00001
|
|
NM_001206927.2(DNAH8):c.10308+14A>G
|
rs760123277
|
0.00001
|
|
NM_001206927.2(DNAH8):c.10309-1G>A
|
rs201009563
|
0.00001
|
|
NM_001206927.2(DNAH8):c.10330C>T (p.Leu3444=)
|
rs748343788
|
0.00001
|
|
NM_001206927.2(DNAH8):c.10335G>A (p.Trp3445Ter)
|
rs1437893220
|
0.00001
|
|
NM_001206927.2(DNAH8):c.10339C>T (p.Leu3447Phe)
|
rs764099125
|
0.00001
|
|
NM_001206927.2(DNAH8):c.10395A>G (p.Pro3465=)
|
rs377745775
|
0.00001
|
|
NM_001206927.2(DNAH8):c.10497C>A (p.Gly3499=)
|
rs1475322848
|
0.00001
|
|
NM_001206927.2(DNAH8):c.10550G>A (p.Arg3517Gln)
|
rs779240075
|
0.00001
|
|
NM_001206927.2(DNAH8):c.10576G>A (p.Gly3526Arg)
|
rs199853566
|
0.00001
|
|
NM_001206927.2(DNAH8):c.10662+9A>G
|
rs1238104527
|
0.00001
|
|
NM_001206927.2(DNAH8):c.10663-13A>G
|
rs1399879776
|
0.00001
|
|
NM_001206927.2(DNAH8):c.10663-2A>G
|
rs1216207042
|
0.00001
|
|
NM_001206927.2(DNAH8):c.10663-6C>A
|
rs757221950
|
0.00001
|
|
NM_001206927.2(DNAH8):c.10790+13G>C
|
rs1417639591
|
0.00001
|
|
NM_001206927.2(DNAH8):c.10790+16T>G
|
rs2150559795
|
0.00001
|
|
NM_001206927.2(DNAH8):c.10837G>A (p.Gly3613Ser)
|
rs1350933024
|
0.00001
|
|
NM_001206927.2(DNAH8):c.10961C>T (p.Thr3654Ile)
|
rs899334468
|
0.00001
|
|
NM_001206927.2(DNAH8):c.1100A>G (p.Tyr367Cys)
|
rs1414912825
|
0.00001
|
|
NM_001206927.2(DNAH8):c.11035G>A (p.Ala3679Thr)
|
rs1035761681
|
0.00001
|
|
NM_001206927.2(DNAH8):c.11087_11088insCTTTTTCC (p.Lys3697fs)
|
rs765386646
|
0.00001
|
|
NM_001206927.2(DNAH8):c.11118+20G>A
|
rs754545702
|
0.00001
|
|
NM_001206927.2(DNAH8):c.11119-12C>A
|
rs370228349
|
0.00001
|
|
NM_001206927.2(DNAH8):c.11123C>T (p.Thr3708Ile)
|
rs776651442
|
0.00001
|
|
NM_001206927.2(DNAH8):c.11176G>C (p.Gly3726Arg)
|
rs373404358
|
0.00001
|
|
NM_001206927.2(DNAH8):c.11208A>G (p.Glu3736=)
|
rs751241140
|
0.00001
|
|
NM_001206927.2(DNAH8):c.11230A>G (p.Asn3744Asp)
|
rs1213044875
|
0.00001
|
|
NM_001206927.2(DNAH8):c.11284G>A (p.Gly3762Ser)
|
rs745615652
|
0.00001
|
|
NM_001206927.2(DNAH8):c.112A>T (p.Thr38Ser)
|
rs778551218
|
0.00001
|
|
NM_001206927.2(DNAH8):c.11311A>G (p.Thr3771Ala)
|
rs768042230
|
0.00001
|
|
NM_001206927.2(DNAH8):c.11334G>A (p.Thr3778=)
|
rs1285842200
|
0.00001
|
|
NM_001206927.2(DNAH8):c.11342C>T (p.Pro3781Leu)
|
rs765589828
|
0.00001
|
|
NM_001206927.2(DNAH8):c.11358C>T (p.Thr3786=)
|
rs751697426
|
0.00001
|
|
NM_001206927.2(DNAH8):c.11398G>A (p.Val3800Ile)
|
rs371600150
|
0.00001
|
|
NM_001206927.2(DNAH8):c.11403A>G (p.Thr3801=)
|
rs1201651090
|
0.00001
|
|
NM_001206927.2(DNAH8):c.11429T>G (p.Leu3810Arg)
|
rs909094330
|
0.00001
|
|
NM_001206927.2(DNAH8):c.11430_11432del (p.Arg3812del)
|
rs771033562
|
0.00001
|
|
NM_001206927.2(DNAH8):c.11439C>G (p.Val3813=)
|
rs1782582738
|
0.00001
|
|
NM_001206927.2(DNAH8):c.11440A>G (p.Ile3814Val)
|
rs2533558406
|
0.00001
|
|
NM_001206927.2(DNAH8):c.11471A>G (p.Glu3824Gly)
|
rs765005496
|
0.00001
|
|
NM_001206927.2(DNAH8):c.114A>G (p.Thr38=)
|
rs543402162
|
0.00001
|
|
NM_001206927.2(DNAH8):c.11570T>G (p.Leu3857Trp)
|
rs143043316
|
0.00001
|
|
NM_001206927.2(DNAH8):c.11581G>C (p.Glu3861Gln)
|
rs1219964235
|
0.00001
|
|
NM_001206927.2(DNAH8):c.11604A>C (p.Arg3868=)
|
rs775507408
|
0.00001
|
|
NM_001206927.2(DNAH8):c.11645A>T (p.His3882Leu)
|
rs1459344355
|
0.00001
|
|
NM_001206927.2(DNAH8):c.1167A>G (p.Pro389=)
|
rs1254302655
|
0.00001
|
|
NM_001206927.2(DNAH8):c.11735T>G (p.Ile3912Ser)
|
rs767990512
|
0.00001
|
|
NM_001206927.2(DNAH8):c.11877T>G (p.Tyr3959Ter)
|
rs754334951
|
0.00001
|
|
NM_001206927.2(DNAH8):c.11878G>A (p.Glu3960Lys)
|
rs940769485
|
0.00001
|
|
NM_001206927.2(DNAH8):c.11910C>T (p.Tyr3970=)
|
rs372031053
|
0.00001
|
|
NM_001206927.2(DNAH8):c.1193G>A (p.Arg398His)
|
rs1051264232
|
0.00001
|
|
NM_001206927.2(DNAH8):c.11943G>A (p.Met3981Ile)
|
rs376317347
|
0.00001
|
|
NM_001206927.2(DNAH8):c.11949A>G (p.Leu3983=)
|
rs1783207678
|
0.00001
|
|
NM_001206927.2(DNAH8):c.11969G>A (p.Gly3990Glu)
|
rs1265988328
|
0.00001
|
|
NM_001206927.2(DNAH8):c.12008-4C>T
|
rs369950333
|
0.00001
|
|
NM_001206927.2(DNAH8):c.120G>A (p.Glu40=)
|
rs1248099376
|
0.00001
|
|
NM_001206927.2(DNAH8):c.12110T>C (p.Phe4037Ser)
|
rs1391386376
|
0.00001
|
|
NM_001206927.2(DNAH8):c.12129+20G>C
|
rs1291970400
|
0.00001
|
|
NM_001206927.2(DNAH8):c.12176C>T (p.Ala4059Val)
|
rs780928277
|
0.00001
|
|
NM_001206927.2(DNAH8):c.12244A>G (p.Ile4082Val)
|
rs760843520
|
0.00001
|
|
NM_001206927.2(DNAH8):c.12280G>A (p.Ala4094Thr)
|
rs1340806081
|
0.00001
|
|
NM_001206927.2(DNAH8):c.12315G>T (p.Lys4105Asn)
|
rs994663754
|
0.00001
|
|
NM_001206927.2(DNAH8):c.12376C>T (p.Pro4126Ser)
|
rs1170406490
|
0.00001
|
|
NM_001206927.2(DNAH8):c.123C>G (p.Ala41=)
|
rs1182016547
|
0.00001
|
|
NM_001206927.2(DNAH8):c.12452-12C>T
|
rs1471703218
|
0.00001
|
|
NM_001206927.2(DNAH8):c.12459A>G (p.Arg4153=)
|
rs1278488176
|
0.00001
|
|
NM_001206927.2(DNAH8):c.12469A>G (p.Met4157Val)
|
rs1392416546
|
0.00001
|
|
NM_001206927.2(DNAH8):c.12480A>C (p.Gly4160=)
|
rs747928749
|
0.00001
|
|
NM_001206927.2(DNAH8):c.12497G>A (p.Arg4166Gln)
|
rs770628767
|
0.00001
|
|
NM_001206927.2(DNAH8):c.12561C>T (p.Gly4187=)
|
rs1763486546
|
0.00001
|
|
NM_001206927.2(DNAH8):c.12601A>G (p.Thr4201Ala)
|
rs139379184
|
0.00001
|
|
NM_001206927.2(DNAH8):c.12609C>T (p.Ala4203=)
|
rs1405669084
|
0.00001
|
|
NM_001206927.2(DNAH8):c.12618T>G (p.Asp4206Glu)
|
rs752937674
|
0.00001
|
|
NM_001206927.2(DNAH8):c.12625C>A (p.Arg4209=)
|
rs758584780
|
0.00001
|
|
NM_001206927.2(DNAH8):c.12637A>G (p.Thr4213Ala)
|
rs757129008
|
0.00001
|
|
NM_001206927.2(DNAH8):c.12679-4A>G
|
rs376122762
|
0.00001
|
|
NM_001206927.2(DNAH8):c.126G>A (p.Pro42=)
|
rs1562544899
|
0.00001
|
|
NM_001206927.2(DNAH8):c.12701A>G (p.Glu4234Gly)
|
rs370456053
|
0.00001
|
|
NM_001206927.2(DNAH8):c.12718C>T (p.Arg4240Cys)
|
rs569195029
|
0.00001
|
|
NM_001206927.2(DNAH8):c.12739T>C (p.Phe4247Leu)
|
rs1583486346
|
0.00001
|
|
NM_001206927.2(DNAH8):c.12759C>T (p.Asp4253=)
|
rs1487747795
|
0.00001
|
|
NM_001206927.2(DNAH8):c.12760C>A (p.Leu4254Ile)
|
rs753837313
|
0.00001
|
|
NM_001206927.2(DNAH8):c.12834+15C>T
|
rs1318590016
|
0.00001
|
|
NM_001206927.2(DNAH8):c.12834+20T>C
|
rs2533858500
|
0.00001
|
|
NM_001206927.2(DNAH8):c.12834+8C>T
|
rs768834028
|
0.00001
|
|
NM_001206927.2(DNAH8):c.12835-11G>C
|
rs377413859
|
0.00001
|
|
NM_001206927.2(DNAH8):c.12843A>G (p.Arg4281=)
|
rs184252142
|
0.00001
|
|
NM_001206927.2(DNAH8):c.12906T>C (p.Ser4302=)
|
rs759351858
|
0.00001
|
|
NM_001206927.2(DNAH8):c.12912G>A (p.Gln4304=)
|
rs1442325899
|
0.00001
|
|
NM_001206927.2(DNAH8):c.12941A>T (p.Asp4314Val)
|
rs1422712718
|
0.00001
|
|
NM_001206927.2(DNAH8):c.13007G>A (p.Arg4336Lys)
|
rs372473768
|
0.00001
|
|
NM_001206927.2(DNAH8):c.13035A>G (p.Leu4345=)
|
rs1364652420
|
0.00001
|
|
NM_001206927.2(DNAH8):c.13052G>A (p.Arg4351Lys)
|
rs760440338
|
0.00001
|
|
NM_001206927.2(DNAH8):c.13053+20T>C
|
rs1309881970
|
0.00001
|
|
NM_001206927.2(DNAH8):c.13053+9A>G
|
rs775870826
|
0.00001
|
|
NM_001206927.2(DNAH8):c.13289T>C (p.Val4430Ala)
|
rs765911536
|
0.00001
|
|
NM_001206927.2(DNAH8):c.13305G>T (p.Glu4435Asp)
|
rs181050326
|
0.00001
|
|
NM_001206927.2(DNAH8):c.13467C>G (p.Leu4489=)
|
rs770586900
|
0.00001
|
|
NM_001206927.2(DNAH8):c.1351G>A (p.Val451Ile)
|
rs1765350054
|
0.00001
|
|
NM_001206927.2(DNAH8):c.13524+13T>C
|
rs762386180
|
0.00001
|
|
NM_001206927.2(DNAH8):c.13524+9T>G
|
rs1316465389
|
0.00001
|
|
NM_001206927.2(DNAH8):c.13589C>G (p.Ser4530Cys)
|
rs761515917
|
0.00001
|
|
NM_001206927.2(DNAH8):c.1360T>C (p.Leu454=)
|
rs745600456
|
0.00001
|
|
NM_001206927.2(DNAH8):c.13655C>T (p.Thr4552Met)
|
rs375993164
|
0.00001
|
|
NM_001206927.2(DNAH8):c.13674G>A (p.Arg4558=)
|
rs763105332
|
0.00001
|
|
NM_001206927.2(DNAH8):c.13691T>C (p.Met4564Thr)
|
rs970547854
|
0.00001
|
|
NM_001206927.2(DNAH8):c.13767A>G (p.Ala4589=)
|
rs1767304471
|
0.00001
|
|
NM_001206927.2(DNAH8):c.1380G>A (p.Val460=)
|
rs1562645732
|
0.00001
|
|
NM_001206927.2(DNAH8):c.13837-4C>T
|
rs994772210
|
0.00001
|
|
NM_001206927.2(DNAH8):c.13859T>A (p.Leu4620His)
|
rs1255052749
|
0.00001
|
|
NM_001206927.2(DNAH8):c.14021G>C (p.Arg4674Thr)
|
rs774150212
|
0.00001
|
|
NM_001206927.2(DNAH8):c.1407+14T>C
|
rs1206527569
|
0.00001
|
|
NM_001206927.2(DNAH8):c.1491G>A (p.Glu497=)
|
rs749972728
|
0.00001
|
|
NM_001206927.2(DNAH8):c.1516-15C>T
|
rs1472053421
|
0.00001
|
|
NM_001206927.2(DNAH8):c.1523A>G (p.Asn508Ser)
|
rs1053193564
|
0.00001
|
|
NM_001206927.2(DNAH8):c.1618-13A>G
|
rs567349049
|
0.00001
|
|
NM_001206927.2(DNAH8):c.1677T>A (p.Ile559=)
|
rs201711281
|
0.00001
|
|
NM_001206927.2(DNAH8):c.1692G>A (p.Gly564=)
|
rs766446337
|
0.00001
|
|
NM_001206927.2(DNAH8):c.1702T>G (p.Phe568Val)
|
rs1385917517
|
0.00001
|
|
NM_001206927.2(DNAH8):c.1704T>C (p.Phe568=)
|
rs773683890
|
0.00001
|
|
NM_001206927.2(DNAH8):c.1767T>G (p.Ile589Met)
|
rs752736988
|
0.00001
|
|
NM_001206927.2(DNAH8):c.1824A>G (p.Glu608=)
|
rs768278758
|
0.00001
|
|
NM_001206927.2(DNAH8):c.1827A>G (p.Gly609=)
|
rs201198707
|
0.00001
|
|
NM_001206927.2(DNAH8):c.184C>T (p.Arg62Trp)
|
rs778505007
|
0.00001
|
|
NM_001206927.2(DNAH8):c.1891A>C (p.Ile631Leu)
|
rs757558240
|
0.00001
|
|
NM_001206927.2(DNAH8):c.1950C>T (p.Ile650=)
|
rs372590465
|
0.00001
|
|
NM_001206927.2(DNAH8):c.1963-13T>C
|
rs747630777
|
0.00001
|
|
NM_001206927.2(DNAH8):c.2031A>G (p.Leu677=)
|
rs1385926341
|
0.00001
|
|
NM_001206927.2(DNAH8):c.2033T>G (p.Leu678Arg)
|
rs775047700
|
0.00001
|
|
NM_001206927.2(DNAH8):c.2039+6C>T
|
rs750551337
|
0.00001
|
|
NM_001206927.2(DNAH8):c.2056A>C (p.Ile686Leu)
|
rs376309134
|
0.00001
|
|
NM_001206927.2(DNAH8):c.2058T>C (p.Ile686=)
|
rs1768422877
|
0.00001
|
|
NM_001206927.2(DNAH8):c.2078T>C (p.Ile693Thr)
|
rs1189384115
|
0.00001
|
|
NM_001206927.2(DNAH8):c.2085C>T (p.His695=)
|
rs201894505
|
0.00001
|
|
NM_001206927.2(DNAH8):c.209G>A (p.Gly70Glu)
|
rs770020515
|
0.00001
|
|
NM_001206927.2(DNAH8):c.2100T>G (p.Ile700Met)
|
rs758338554
|
0.00001
|
|
NM_001206927.2(DNAH8):c.210G>A (p.Gly70=)
|
rs1462801040
|
0.00001
|
|
NM_001206927.2(DNAH8):c.2146C>A (p.His716Asn)
|
rs1768569619
|
0.00001
|
|
NM_001206927.2(DNAH8):c.2181C>T (p.Asn727=)
|
rs139748014
|
0.00001
|
|
NM_001206927.2(DNAH8):c.2202A>G (p.Lys734=)
|
rs372312350
|
0.00001
|
|
NM_001206927.2(DNAH8):c.2227C>T (p.Arg743Cys)
|
rs753499080
|
0.00001
|
|
NM_001206927.2(DNAH8):c.2230C>T (p.Arg744Trp)
|
rs758774116
|
0.00001
|
|
NM_001206927.2(DNAH8):c.2231G>A (p.Arg744Gln)
|
rs546652224
|
0.00001
|
|
NM_001206927.2(DNAH8):c.2259+14T>C
|
rs749531513
|
0.00001
|
|
NM_001206927.2(DNAH8):c.2328T>C (p.Tyr776=)
|
rs772055577
|
0.00001
|
|
NM_001206927.2(DNAH8):c.2388G>A (p.Leu796=)
|
rs752435001
|
0.00001
|
|
NM_001206927.2(DNAH8):c.2395+9A>G
|
rs756644206
|
0.00001
|
|
NM_001206927.2(DNAH8):c.2396-18A>G
|
rs1185720411
|
0.00001
|
|
NM_001206927.2(DNAH8):c.2396-19_2396-18dup
|
rs757413994
|
0.00001
|
|
NM_001206927.2(DNAH8):c.2420G>A (p.Arg807Gln)
|
rs1325804996
|
0.00001
|
|
NM_001206927.2(DNAH8):c.2443C>T (p.Leu815=)
|
rs201728691
|
0.00001
|
|
NM_001206927.2(DNAH8):c.2513A>G (p.Asp838Gly)
|
rs777664096
|
0.00001
|
|
NM_001206927.2(DNAH8):c.2528C>A (p.Ala843Glu)
|
rs774986794
|
0.00001
|
|
NM_001206927.2(DNAH8):c.253C>T (p.Arg85Ter)
|
rs545867507
|
0.00001
|
|
NM_001206927.2(DNAH8):c.2552G>A (p.Ser851Asn)
|
rs1271804469
|
0.00001
|
|
NM_001206927.2(DNAH8):c.2582A>G (p.Gln861Arg)
|
rs1769214990
|
0.00001
|
|
NM_001206927.2(DNAH8):c.2583+18T>A
|
rs1408341885
|
0.00001
|
|
NM_001206927.2(DNAH8):c.2583+9G>A
|
rs1418651674
|
0.00001
|
|
NM_001206927.2(DNAH8):c.2584-10C>T
|
rs375358161
|
0.00001
|
|
NM_001206927.2(DNAH8):c.2649C>T (p.Thr883=)
|
rs377274564
|
0.00001
|
|
NM_001206927.2(DNAH8):c.2652A>C (p.Pro884=)
|
rs750208062
|
0.00001
|
|
NM_001206927.2(DNAH8):c.2662A>G (p.Lys888Glu)
|
rs1055070416
|
0.00001
|
|
NM_001206927.2(DNAH8):c.2681G>A (p.Arg894Lys)
|
rs752232309
|
0.00001
|
|
NM_001206927.2(DNAH8):c.2690T>C (p.Leu897Pro)
|
rs1197384412
|
0.00001
|
|
NM_001206927.2(DNAH8):c.2708C>T (p.Ser903Leu)
|
rs569365870
|
0.00001
|
|
NM_001206927.2(DNAH8):c.2719C>T (p.Leu907=)
|
rs1060504238
|
0.00001
|
|
NM_001206927.2(DNAH8):c.2750T>C (p.Val917Ala)
|
rs773425594
|
0.00001
|
|
NM_001206927.2(DNAH8):c.2756A>G (p.Asp919Gly)
|
rs559075687
|
0.00001
|
|
NM_001206927.2(DNAH8):c.275C>T (p.Pro92Leu)
|
rs757958716
|
0.00001
|
|
NM_001206927.2(DNAH8):c.2901G>A (p.Glu967=)
|
rs762902639
|
0.00001
|
|
NM_001206927.2(DNAH8):c.2910A>G (p.Thr970=)
|
rs1361594978
|
0.00001
|
|
NM_001206927.2(DNAH8):c.2926A>G (p.Ile976Val)
|
rs1770938827
|
0.00001
|
|
NM_001206927.2(DNAH8):c.301C>T (p.Leu101=)
|
rs749695112
|
0.00001
|
|
NM_001206927.2(DNAH8):c.3035-15G>A
|
rs779326611
|
0.00001
|
|
NM_001206927.2(DNAH8):c.3035-3T>C
|
rs1771183616
|
0.00001
|
|
NM_001206927.2(DNAH8):c.3103A>G (p.Ile1035Val)
|
rs1480696575
|
0.00001
|
|
NM_001206927.2(DNAH8):c.3183T>C (p.His1061=)
|
rs751347468
|
0.00001
|
|
NM_001206927.2(DNAH8):c.320G>A (p.Arg107Gln)
|
rs765307487
|
0.00001
|
|
NM_001206927.2(DNAH8):c.3269G>A (p.Arg1090Gln)
|
rs774576655
|
0.00001
|
|
NM_001206927.2(DNAH8):c.3293C>T (p.Ser1098Phe)
|
rs553578959
|
0.00001
|
|
NM_001206927.2(DNAH8):c.3333+18C>T
|
rs768718204
|
0.00001
|
|
NM_001206927.2(DNAH8):c.3361C>A (p.Gln1121Lys)
|
rs200670267
|
0.00001
|
|
NM_001206927.2(DNAH8):c.3370A>G (p.Ile1124Val)
|
rs747236022
|
0.00001
|
|
NM_001206927.2(DNAH8):c.33T>G (p.Ser11=)
|
rs758575841
|
0.00001
|
|
NM_001206927.2(DNAH8):c.3413T>A (p.Val1138Glu)
|
rs1554218874
|
0.00001
|
|
NM_001206927.2(DNAH8):c.3440G>A (p.Arg1147His)
|
rs960637197
|
0.00001
|
|
NM_001206927.2(DNAH8):c.3466C>T (p.Pro1156Ser)
|
rs1239419536
|
0.00001
|
|
NM_001206927.2(DNAH8):c.3523+15T>C
|
rs372044794
|
0.00001
|
|
NM_001206927.2(DNAH8):c.3561G>T (p.Lys1187Asn)
|
rs763348835
|
0.00001
|
|
NM_001206927.2(DNAH8):c.3569A>C (p.Tyr1190Ser)
|
rs764580800
|
0.00001
|
|
NM_001206927.2(DNAH8):c.3581C>T (p.Ala1194Val)
|
rs1060501472
|
0.00001
|
|
NM_001206927.2(DNAH8):c.358C>T (p.Pro120Ser)
|
rs759397600
|
0.00001
|
|
NM_001206927.2(DNAH8):c.3662T>G (p.Leu1221Arg)
|
rs868651177
|
0.00001
|
|
NM_001206927.2(DNAH8):c.3721-20T>G
|
rs940227816
|
0.00001
|
|
NM_001206927.2(DNAH8):c.3772C>T (p.His1258Tyr)
|
rs1258463187
|
0.00001
|
|
NM_001206927.2(DNAH8):c.37G>A (p.Gly13Arg)
|
rs777885822
|
0.00001
|
|
NM_001206927.2(DNAH8):c.382G>A (p.Glu128Lys)
|
rs763048415
|
0.00001
|
|
NM_001206927.2(DNAH8):c.3847+19_3847+20insGA
|
rs1018197505
|
0.00001
|
|
NM_001206927.2(DNAH8):c.3847+8A>C
|
rs559665858
|
0.00001
|
|
NM_001206927.2(DNAH8):c.3913A>G (p.Asn1305Asp)
|
rs754563016
|
0.00001
|
|
NM_001206927.2(DNAH8):c.3984A>T (p.Arg1328Ser)
|
rs749436834
|
0.00001
|
|
NM_001206927.2(DNAH8):c.4087G>T (p.Ala1363Ser)
|
rs201887726
|
0.00001
|
|
NM_001206927.2(DNAH8):c.4133A>T (p.Glu1378Val)
|
rs777914000
|
0.00001
|
|
NM_001206927.2(DNAH8):c.4176G>T (p.Leu1392Phe)
|
rs1191544240
|
0.00001
|
|
NM_001206927.2(DNAH8):c.4189-4G>A
|
rs751691769
|
0.00001
|
|
NM_001206927.2(DNAH8):c.4224A>G (p.Pro1408=)
|
rs778459478
|
0.00001
|
|
NM_001206927.2(DNAH8):c.4327C>A (p.Pro1443Thr)
|
rs536307444
|
0.00001
|
|
NM_001206927.2(DNAH8):c.4349G>A (p.Arg1450Lys)
|
rs145520125
|
0.00001
|
|
NM_001206927.2(DNAH8):c.4463C>T (p.Thr1488Ile)
|
rs370607993
|
0.00001
|
|
NM_001206927.2(DNAH8):c.453A>G (p.Ile151Met)
|
rs376030488
|
0.00001
|
|
NM_001206927.2(DNAH8):c.4540G>C (p.Glu1514Gln)
|
rs1407889028
|
0.00001
|
|
NM_001206927.2(DNAH8):c.4604+11A>G
|
rs758841101
|
0.00001
|
|
NM_001206927.2(DNAH8):c.4749C>T (p.Ser1583=)
|
rs749021658
|
0.00001
|
|
NM_001206927.2(DNAH8):c.4750G>A (p.Glu1584Lys)
|
rs201823651
|
0.00001
|
|
NM_001206927.2(DNAH8):c.4776G>A (p.Val1592=)
|
rs756097882
|
0.00001
|
|
NM_001206927.2(DNAH8):c.4819C>T (p.Leu1607Phe)
|
rs1554226482
|
0.00001
|
|
NM_001206927.2(DNAH8):c.4845+5A>G
|
rs776258788
|
0.00001
|
|
NM_001206927.2(DNAH8):c.4852T>C (p.Cys1618Arg)
|
rs1411389193
|
0.00001
|
|
NM_001206927.2(DNAH8):c.4889A>G (p.Lys1630Arg)
|
rs1026014401
|
0.00001
|
|
NM_001206927.2(DNAH8):c.4939G>A (p.Ala1647Thr)
|
rs754359838
|
0.00001
|
|
NM_001206927.2(DNAH8):c.4976C>T (p.Thr1659Ile)
|
rs751367633
|
0.00001
|
|
NM_001206927.2(DNAH8):c.5005G>T (p.Glu1669Ter)
|
rs1438128043
|
0.00001
|
|
NM_001206927.2(DNAH8):c.5046-16C>T
|
rs756095011
|
0.00001
|
|
NM_001206927.2(DNAH8):c.5088T>C (p.Tyr1696=)
|
rs1462577430
|
0.00001
|
|
NM_001206927.2(DNAH8):c.5160C>T (p.Ala1720=)
|
rs200767977
|
0.00001
|
|
NM_001206927.2(DNAH8):c.5161G>A (p.Val1721Ile)
|
rs746165563
|
0.00001
|
|
NM_001206927.2(DNAH8):c.5200-8A>G
|
rs1432085977
|
0.00001
|
|
NM_001206927.2(DNAH8):c.5211T>G (p.Arg1737=)
|
rs765017671
|
0.00001
|
|
NM_001206927.2(DNAH8):c.5222T>C (p.Ile1741Thr)
|
rs761361186
|
0.00001
|
|
NM_001206927.2(DNAH8):c.5252G>A (p.Arg1751Gln)
|
rs756837520
|
0.00001
|
|
NM_001206927.2(DNAH8):c.5268C>T (p.Pro1756=)
|
rs1168172905
|
0.00001
|
|
NM_001206927.2(DNAH8):c.5275A>G (p.Ile1759Val)
|
rs1775642975
|
0.00001
|
|
NM_001206927.2(DNAH8):c.5286T>C (p.Cys1762=)
|
rs748684504
|
0.00001
|
|
NM_001206927.2(DNAH8):c.5363+4A>T
|
rs745592082
|
0.00001
|
|
NM_001206927.2(DNAH8):c.5364-14G>A
|
rs758964654
|
0.00001
|
|
NM_001206927.2(DNAH8):c.5364-15C>T
|
rs939208450
|
0.00001
|
|
NM_001206927.2(DNAH8):c.5399T>A (p.Phe1800Tyr)
|
rs1775751486
|
0.00001
|
|
NM_001206927.2(DNAH8):c.5466+11A>T
|
rs1440262507
|
0.00001
|
|
NM_001206927.2(DNAH8):c.5466+15T>C
|
rs1406177875
|
0.00001
|
|
NM_001206927.2(DNAH8):c.5499T>C (p.Asn1833=)
|
rs762356544
|
0.00001
|
|
NM_001206927.2(DNAH8):c.5525A>G (p.Tyr1842Cys)
|
rs566394706
|
0.00001
|
|
NM_001206927.2(DNAH8):c.5571+4A>G
|
rs762150721
|
0.00001
|
|
NM_001206927.2(DNAH8):c.5572-16T>G
|
rs745427720
|
0.00001
|
|
NM_001206927.2(DNAH8):c.5617C>T (p.Leu1873=)
|
rs1274941909
|
0.00001
|
|
NM_001206927.2(DNAH8):c.5618T>C (p.Leu1873Pro)
|
rs759541064
|
0.00001
|
|
NM_001206927.2(DNAH8):c.5694A>G (p.Gly1898=)
|
rs747442455
|
0.00001
|
|
NM_001206927.2(DNAH8):c.5734-1G>T
|
rs781634544
|
0.00001
|
|
NM_001206927.2(DNAH8):c.5907C>T (p.Phe1969=)
|
rs772470999
|
0.00001
|
|
NM_001206927.2(DNAH8):c.5908G>A (p.Glu1970Lys)
|
rs138892245
|
0.00001
|
|
NM_001206927.2(DNAH8):c.5931G>A (p.Val1977=)
|
rs1358279971
|
0.00001
|
|
NM_001206927.2(DNAH8):c.5937G>A (p.Gln1979=)
|
rs764696630
|
0.00001
|
|
NM_001206927.2(DNAH8):c.5968C>T (p.His1990Tyr)
|
rs1776528709
|
0.00001
|
|
NM_001206927.2(DNAH8):c.5971A>G (p.Ile1991Val)
|
rs758528601
|
0.00001
|
|
NM_001206927.2(DNAH8):c.5978C>T (p.Ser1993Leu)
|
rs747224041
|
0.00001
|
|
NM_001206927.2(DNAH8):c.6012A>G (p.Arg2004=)
|
rs769654987
|
0.00001
|
|
NM_001206927.2(DNAH8):c.6058G>C (p.Asp2020His)
|
rs761500520
|
0.00001
|
|
NM_001206927.2(DNAH8):c.6097A>G (p.Thr2033Ala)
|
rs1043207748
|
0.00001
|
|
NM_001206927.2(DNAH8):c.6104G>A (p.Arg2035His)
|
rs758868992
|
0.00001
|
|
NM_001206927.2(DNAH8):c.6157T>C (p.Leu2053=)
|
rs981429028
|
0.00001
|
|
NM_001206927.2(DNAH8):c.6172G>A (p.Gly2058Arg)
|
rs1413407899
|
0.00001
|
|
NM_001206927.2(DNAH8):c.619C>T (p.Arg207Ter)
|
rs776176679
|
0.00001
|
|
NM_001206927.2(DNAH8):c.6292C>T (p.Leu2098=)
|
rs746585378
|
0.00001
|
|
NM_001206927.2(DNAH8):c.6311-5G>A
|
rs372864115
|
0.00001
|
|
NM_001206927.2(DNAH8):c.6311-6T>C
|
rs1168116755
|
0.00001
|
|
NM_001206927.2(DNAH8):c.6324G>A (p.Ser2108=)
|
rs779129421
|
0.00001
|
|
NM_001206927.2(DNAH8):c.6498+12G>A
|
rs1358570076
|
0.00001
|
|
NM_001206927.2(DNAH8):c.6516G>A (p.Gly2172=)
|
rs767297487
|
0.00001
|
|
NM_001206927.2(DNAH8):c.6548A>G (p.Gln2183Arg)
|
rs892309036
|
0.00001
|
|
NM_001206927.2(DNAH8):c.6594G>A (p.Met2198Ile)
|
rs765618018
|
0.00001
|
|
NM_001206927.2(DNAH8):c.661T>C (p.Leu221=)
|
rs149710467
|
0.00001
|
|
NM_001206927.2(DNAH8):c.6642T>C (p.Ala2214=)
|
rs753908674
|
0.00001
|
|
NM_001206927.2(DNAH8):c.6654C>T (p.Tyr2218=)
|
rs551682867
|
0.00001
|
|
NM_001206927.2(DNAH8):c.6655G>A (p.Val2219Ile)
|
rs368252927
|
0.00001
|
|
NM_001206927.2(DNAH8):c.6656T>C (p.Val2219Ala)
|
rs571866276
|
0.00001
|
|
NM_001206927.2(DNAH8):c.6693+12G>C
|
rs1457286355
|
0.00001
|
|
NM_001206927.2(DNAH8):c.669A>G (p.Ile223Met)
|
rs1249365541
|
0.00001
|
|
NM_001206927.2(DNAH8):c.671A>G (p.Asp224Gly)
|
rs1763929974
|
0.00001
|
|
NM_001206927.2(DNAH8):c.6726G>A (p.Leu2242=)
|
rs878854275
|
0.00001
|
|
NM_001206927.2(DNAH8):c.6741T>A (p.Thr2247=)
|
rs770746027
|
0.00001
|
|
NM_001206927.2(DNAH8):c.674A>G (p.Asn225Ser)
|
rs548292757
|
0.00001
|
|
NM_001206927.2(DNAH8):c.6800G>A (p.Gly2267Glu)
|
rs766818202
|
0.00001
|
|
NM_001206927.2(DNAH8):c.6855C>T (p.Leu2285=)
|
rs775893930
|
0.00001
|
|
NM_001206927.2(DNAH8):c.6864C>G (p.Ile2288Met)
|
rs1412777895
|
0.00001
|
|
NM_001206927.2(DNAH8):c.6867T>C (p.Asn2289=)
|
rs1448605349
|
0.00001
|
|
NM_001206927.2(DNAH8):c.691C>T (p.Leu231=)
|
rs757197800
|
0.00001
|
|
NM_001206927.2(DNAH8):c.6991-13G>C
|
rs752205058
|
0.00001
|
|
NM_001206927.2(DNAH8):c.6G>A (p.Glu2=)
|
rs774924483
|
0.00001
|
|
NM_001206927.2(DNAH8):c.7104T>C (p.Pro2368=)
|
rs749561991
|
0.00001
|
|
NM_001206927.2(DNAH8):c.722G>C (p.Cys241Ser)
|
rs1007614402
|
0.00001
|
|
NM_001206927.2(DNAH8):c.7255A>C (p.Ile2419Leu)
|
rs967704640
|
0.00001
|
|
NM_001206927.2(DNAH8):c.72C>T (p.Ala24=)
|
rs773854540
|
0.00001
|
|
NM_001206927.2(DNAH8):c.7302C>T (p.Ser2434=)
|
rs775873897
|
0.00001
|
|
NM_001206927.2(DNAH8):c.7329G>T (p.Thr2443=)
|
rs114719419
|
0.00001
|
|
NM_001206927.2(DNAH8):c.7359C>T (p.Ala2453=)
|
rs2533095437
|
0.00001
|
|
NM_001206927.2(DNAH8):c.7386C>T (p.Val2462=)
|
rs1311854344
|
0.00001
|
|
NM_001206927.2(DNAH8):c.7470A>C (p.Pro2490=)
|
rs1302940617
|
0.00001
|
|
NM_001206927.2(DNAH8):c.7479+19A>G
|
rs750924798
|
0.00001
|
|
NM_001206927.2(DNAH8):c.762+4T>G
|
rs552492150
|
0.00001
|
|
NM_001206927.2(DNAH8):c.7620+6del
|
rs764807072
|
0.00001
|
|
NM_001206927.2(DNAH8):c.7624C>G (p.Leu2542Val)
|
rs771169521
|
0.00001
|
|
NM_001206927.2(DNAH8):c.763-1G>A
|
rs1582865345
|
0.00001
|
|
NM_001206927.2(DNAH8):c.7642T>C (p.Leu2548=)
|
rs759956029
|
0.00001
|
|
NM_001206927.2(DNAH8):c.7677T>C (p.Cys2559=)
|
rs1409478576
|
0.00001
|
|
NM_001206927.2(DNAH8):c.767C>T (p.Ala256Val)
|
rs776968317
|
0.00001
|
|
NM_001206927.2(DNAH8):c.774T>A (p.Phe258Leu)
|
rs1056358638
|
0.00001
|
|
NM_001206927.2(DNAH8):c.7817G>T (p.Gly2606Val)
|
rs533990732
|
0.00001
|
|
NM_001206927.2(DNAH8):c.7850C>T (p.Thr2617Ile)
|
rs778554035
|
0.00001
|
|
NM_001206927.2(DNAH8):c.7859-8T>C
|
rs202181803
|
0.00001
|
|
NM_001206927.2(DNAH8):c.7866G>A (p.Trp2622Ter)
|
rs766256391
|
0.00001
|
|
NM_001206927.2(DNAH8):c.7906A>G (p.Thr2636Ala)
|
rs752099198
|
0.00001
|
|
NM_001206927.2(DNAH8):c.791C>T (p.Ser264Leu)
|
rs751829816
|
0.00001
|
|
NM_001206927.2(DNAH8):c.7920G>A (p.Pro2640=)
|
rs751198406
|
0.00001
|
|
NM_001206927.2(DNAH8):c.792G>A (p.Ser264=)
|
rs757017716
|
0.00001
|
|
NM_001206927.2(DNAH8):c.797G>C (p.Gly266Ala)
|
rs796636840
|
0.00001
|
|
NM_001206927.2(DNAH8):c.7984A>G (p.Ile2662Val)
|
rs575966640
|
0.00001
|
|
NM_001206927.2(DNAH8):c.8001+17G>A
|
rs955810742
|
0.00001
|
|
NM_001206927.2(DNAH8):c.8059T>C (p.Leu2687=)
|
rs1224815691
|
0.00001
|
|
NM_001206927.2(DNAH8):c.8123C>A (p.Pro2708Gln)
|
rs757381549
|
0.00001
|
|
NM_001206927.2(DNAH8):c.8136+10A>G
|
rs1393379862
|
0.00001
|
|
NM_001206927.2(DNAH8):c.8137-8C>G
|
rs1430799915
|
0.00001
|
|
NM_001206927.2(DNAH8):c.8165G>A (p.Arg2722Gln)
|
rs1330298296
|
0.00001
|
|
NM_001206927.2(DNAH8):c.8278C>T (p.Arg2760Ter)
|
rs776257226
|
0.00001
|
|
NM_001206927.2(DNAH8):c.8303T>C (p.Met2768Thr)
|
rs780498241
|
0.00001
|
|
NM_001206927.2(DNAH8):c.8358A>C (p.Ile2786=)
|
rs1484689948
|
0.00001
|
|
NM_001206927.2(DNAH8):c.8381G>A (p.Gly2794Asp)
|
rs1274347654
|
0.00001
|
|
NM_001206927.2(DNAH8):c.8460A>T (p.Ile2820=)
|
rs769848779
|
0.00001
|
|
NM_001206927.2(DNAH8):c.8474-20C>G
|
rs749389050
|
0.00001
|
|
NM_001206927.2(DNAH8):c.84A>G (p.Ser28=)
|
rs765662936
|
0.00001
|
|
NM_001206927.2(DNAH8):c.8514C>T (p.Phe2838=)
|
rs754567678
|
0.00001
|
|
NM_001206927.2(DNAH8):c.8583+16T>C
|
rs985524525
|
0.00001
|
|
NM_001206927.2(DNAH8):c.8619C>T (p.Tyr2873=)
|
rs776627741
|
0.00001
|
|
NM_001206927.2(DNAH8):c.8679G>A (p.Glu2893=)
|
rs367682630
|
0.00001
|
|
NM_001206927.2(DNAH8):c.8729G>A (p.Ser2910Asn)
|
rs769727126
|
0.00001
|
|
NM_001206927.2(DNAH8):c.8748-20C>G
|
rs771673698
|
0.00001
|
|
NM_001206927.2(DNAH8):c.8761G>T (p.Glu2921Ter)
|
rs369304378
|
0.00001
|
|
NM_001206927.2(DNAH8):c.877A>C (p.Asn293His)
|
rs971110651
|
0.00001
|
|
NM_001206927.2(DNAH8):c.8794C>T (p.Arg2932Cys)
|
rs367945482
|
0.00001
|
|
NM_001206927.2(DNAH8):c.8842C>T (p.Pro2948Ser)
|
rs980617815
|
0.00001
|
|
NM_001206927.2(DNAH8):c.8851T>C (p.Tyr2951His)
|
rs1448270591
|
0.00001
|
|
NM_001206927.2(DNAH8):c.8941-5C>T
|
rs762341611
|
0.00001
|
|
NM_001206927.2(DNAH8):c.9050C>T (p.Thr3017Ile)
|
rs776762950
|
0.00001
|
|
NM_001206927.2(DNAH8):c.9063+10A>G
|
rs199885251
|
0.00001
|
|
NM_001206927.2(DNAH8):c.9063+14C>G
|
rs1477119308
|
0.00001
|
|
NM_001206927.2(DNAH8):c.9064-19G>A
|
rs1317898565
|
0.00001
|
|
NM_001206927.2(DNAH8):c.9164G>A (p.Gly3055Asp)
|
rs753516152
|
0.00001
|
|
NM_001206927.2(DNAH8):c.9182T>C (p.Ile3061Thr)
|
rs373054540
|
0.00001
|
|
NM_001206927.2(DNAH8):c.9194+16A>G
|
rs1359954070
|
0.00001
|
|
NM_001206927.2(DNAH8):c.9194+19C>T
|
rs376016594
|
0.00001
|
|
NM_001206927.2(DNAH8):c.9195-14A>G
|
rs750921317
|
0.00001
|
|
NM_001206927.2(DNAH8):c.9195G>T (p.Arg3065Ser)
|
rs1339146673
|
0.00001
|
|
NM_001206927.2(DNAH8):c.9221A>G (p.Asp3074Gly)
|
rs748431291
|
0.00001
|
|
NM_001206927.2(DNAH8):c.9222T>C (p.Asp3074=)
|
rs771979961
|
0.00001
|
|
NM_001206927.2(DNAH8):c.9237G>A (p.Leu3079=)
|
rs776160871
|
0.00001
|
|
NM_001206927.2(DNAH8):c.9304G>T (p.Glu3102Ter)
|
rs1223799853
|
0.00001
|
|
NM_001206927.2(DNAH8):c.931A>G (p.Arg311Gly)
|
rs781343452
|
0.00001
|
|
NM_001206927.2(DNAH8):c.9434C>G (p.Pro3145Arg)
|
rs747278340
|
0.00001
|
|
NM_001206927.2(DNAH8):c.9455A>G (p.Tyr3152Cys)
|
rs1442918944
|
0.00001
|
|
NM_001206927.2(DNAH8):c.953-6T>C
|
rs972068548
|
0.00001
|
|
NM_001206927.2(DNAH8):c.958A>G (p.Arg320Gly)
|
rs757946681
|
0.00001
|
|
NM_001206927.2(DNAH8):c.9714A>C (p.Ser3238=)
|
rs752620022
|
0.00001
|
|
NM_001206927.2(DNAH8):c.9721T>C (p.Cys3241Arg)
|
rs1285827985
|
0.00001
|
|
NM_001206927.2(DNAH8):c.9740+13A>G
|
rs780514296
|
0.00001
|
|
NM_001206927.2(DNAH8):c.9749G>A (p.Arg3250Gln)
|
rs370474987
|
0.00001
|
|
NM_001206927.2(DNAH8):c.9793G>T (p.Gly3265Cys)
|
rs1060501471
|
0.00001
|
|
NM_001206927.2(DNAH8):c.9819G>A (p.Lys3273=)
|
rs267601018
|
0.00001
|
|
NM_001206927.2(DNAH8):c.9840G>A (p.Gln3280=)
|
rs1583331664
|
0.00001
|
|
NM_001206927.2(DNAH8):c.9906T>G (p.Ser3302=)
|
rs1240149198
|
0.00001
|
|
NM_001206927.2(DNAH8):c.9960C>T (p.Asp3320=)
|
rs141240104
|
0.00001
|
|
NM_001206927.2(DNAH8):c.9961G>A (p.Glu3321Lys)
|
rs200884766
|
0.00001
|
|
NM_001206927.2(DNAH8):c.9964-11C>G
|
rs763219064
|
0.00001
|
|
NM_001206927.2(DNAH8):c.9964-20G>A
|
rs1189309950
|
0.00001
|
|
NM_001206927.2(DNAH8):c.9G>A (p.Lys3=)
|
rs565853864
|
0.00001
|
|
NM_001256715.2(DNAAF3):c.-24G>A
|
rs1397391020
|
0.00001
|
|
NM_001256715.2(DNAAF3):c.-3G>T
|
rs757302187
|
0.00001
|
|
NM_001256715.2(DNAAF3):c.-47G>A
|
rs2085942629
|
0.00001
|
|
NM_001256715.2(DNAAF3):c.-59C>T
|
rs376972065
|
0.00001
|
|
NM_001256715.2(DNAAF3):c.-68G>C
|
rs951115972
|
0.00001
|
|
NM_001256715.2(DNAAF3):c.-69C>G
|
rs772986651
|
0.00001
|
|
NM_001256715.2(DNAAF3):c.-75G>C
|
rs537597795
|
0.00001
|
|
NM_001256715.2(DNAAF3):c.1017C>A (p.His339Gln)
|
rs560113507
|
0.00001
|
|
NM_001256715.2(DNAAF3):c.1055C>T (p.Pro352Leu)
|
rs201462060
|
0.00001
|
|
NM_001256715.2(DNAAF3):c.1108C>T (p.Leu370Phe)
|
rs78107552
|
0.00001
|
|
NM_001256715.2(DNAAF3):c.1131C>T (p.Asn377=)
|
rs368717048
|
0.00001
|
|
NM_001256715.2(DNAAF3):c.1164-5T>C
|
rs376972789
|
0.00001
|
|
NM_001256715.2(DNAAF3):c.117T>C (p.Asp39=)
|
rs886054642
|
0.00001
|
|
NM_001256715.2(DNAAF3):c.1206A>T (p.Ala402=)
|
rs1011268850
|
0.00001
|
|
NM_001256715.2(DNAAF3):c.1209C>T (p.Pro403=)
|
rs373798404
|
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.1223T>C (p.Ile408Thr)
|
rs760023977
|
0.00001
|
|
NM_001256715.2(DNAAF3):c.1237C>T (p.Arg413Trp)
|
rs747247157
|
0.00001
|
|
NM_001256715.2(DNAAF3):c.1238+14G>A
|
rs2085779531
|
0.00001
|
|
NM_001256715.2(DNAAF3):c.1239-20A>G
|
rs766394618
|
0.00001
|
|
NM_001256715.2(DNAAF3):c.123G>A (p.Val41=)
|
rs369454066
|
0.00001
|
|
NM_001256715.2(DNAAF3):c.1329C>T (p.Thr443=)
|
rs767701157
|
0.00001
|
|
NM_001256715.2(DNAAF3):c.132C>A (p.Asn44Lys)
|
rs929924324
|
0.00001
|
|
NM_001256715.2(DNAAF3):c.134C>G (p.Pro45Arg)
|
rs753533801
|
0.00001
|
|
NM_001256715.2(DNAAF3):c.1357C>T (p.Arg453Cys)
|
rs745788397
|
0.00001
|
|
NM_001256715.2(DNAAF3):c.1360T>G (p.Phe454Val)
|
rs746688785
|
0.00001
|
|
NM_001256715.2(DNAAF3):c.1372C>G (p.Gln458Glu)
|
rs754170208
|
0.00001
|
|
NM_001256715.2(DNAAF3):c.1395T>C (p.Thr465=)
|
rs2085773934
|
0.00001
|
|
NM_001256715.2(DNAAF3):c.1431C>T (p.Asp477=)
|
rs759571188
|
0.00001
|
|
NM_001256715.2(DNAAF3):c.1536G>A (p.Glu512=)
|
rs1060504731
|
0.00001
|
|
NM_001256715.2(DNAAF3):c.1543G>A (p.Gly515Ser)
|
rs760590357
|
0.00001
|
|
NM_001256715.2(DNAAF3):c.159C>T (p.Gly53=)
|
rs529300481
|
0.00001
|
|
NM_001256715.2(DNAAF3):c.189C>A (p.Thr63=)
|
rs773677511
|
0.00001
|
|
NM_001256715.2(DNAAF3):c.228+5G>C
|
rs372166228
|
0.00001
|
|
NM_001256715.2(DNAAF3):c.250C>G (p.Leu84Val)
|
rs1162845336
|
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.322+17C>T
|
rs200093913
|
0.00001
|
|
NM_001256715.2(DNAAF3):c.322G>A (p.Glu108Lys)
|
rs201688782
|
0.00001
|
|
NM_001256715.2(DNAAF3):c.340C>T (p.Leu114=)
|
rs2085851468
|
0.00001
|
|
NM_001256715.2(DNAAF3):c.368G>A (p.Arg123His)
|
rs1432760382
|
0.00001
|
|
NM_001256715.2(DNAAF3):c.372G>A (p.Pro124=)
|
rs1048936417
|
0.00001
|
|
NM_001256715.2(DNAAF3):c.432C>T (p.Pro144=)
|
rs1346019516
|
0.00001
|
|
NM_001256715.2(DNAAF3):c.458G>A (p.Trp153Ter)
|
rs2085848277
|
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.508G>T (p.Val170Leu)
|
rs761802279
|
0.00001
|
|
NM_001256715.2(DNAAF3):c.563G>A (p.Arg188His)
|
rs977303439
|
0.00001
|
|
NM_001256715.2(DNAAF3):c.580C>T (p.Leu194=)
|
rs753887109
|
0.00001
|
|
NM_001256715.2(DNAAF3):c.609C>T (p.Asp203=)
|
rs750637503
|
0.00001
|
|
NM_001256715.2(DNAAF3):c.619G>A (p.Gly207Ser)
|
rs1464540393
|
0.00001
|
|
NM_001256715.2(DNAAF3):c.632G>A (p.Trp211Ter)
|
rs2085836426
|
0.00001
|
|
NM_001256715.2(DNAAF3):c.661G>A (p.Gly221Arg)
|
rs1302666486
|
0.00001
|
|
NM_001256715.2(DNAAF3):c.664-17C>G
|
rs1003385260
|
0.00001
|
|
NM_001256715.2(DNAAF3):c.665C>T (p.Ala222Val)
|
rs866731630
|
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.781C>T (p.Leu261=)
|
rs2147296328
|
0.00001
|
|
NM_001256715.2(DNAAF3):c.782T>C (p.Leu261Pro)
|
rs534298243
|
0.00001
|
|
NM_001256715.2(DNAAF3):c.789C>T (p.Tyr263=)
|
rs776072944
|
0.00001
|
|
NM_001256715.2(DNAAF3):c.800G>C (p.Arg267Pro)
|
rs753871688
|
0.00001
|
|
NM_001256715.2(DNAAF3):c.820T>C (p.Trp274Arg)
|
rs749849022
|
0.00001
|
|
NM_001256715.2(DNAAF3):c.85+10A>C
|
rs1316660288
|
0.00001
|
|
NM_001256715.2(DNAAF3):c.85+2T>G
|
rs1263006158
|
0.00001
|
|
NM_001256715.2(DNAAF3):c.851C>A (p.Ala284Asp)
|
rs966788457
|
0.00001
|
|
NM_001256715.2(DNAAF3):c.86-1G>T
|
rs1275579676
|
0.00001
|
|
NM_001256715.2(DNAAF3):c.86-49G>A
|
rs2085932939
|
0.00001
|
|
NM_001256715.2(DNAAF3):c.904C>A (p.Pro302Thr)
|
rs920224734
|
0.00001
|
|
NM_001256715.2(DNAAF3):c.912+7G>A
|
rs1408760485
|
0.00001
|
|
NM_001256715.2(DNAAF3):c.922G>A (p.Glu308Lys)
|
rs1026878171
|
0.00001
|
|
NM_001256715.2(DNAAF3):c.927C>T (p.Ile309=)
|
rs191818542
|
0.00001
|
|
NM_001256715.2(DNAAF3):c.94G>T (p.Val32Leu)
|
rs1319982930
|
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_001256715.2(DNAAF3):c.997G>T (p.Asp333Tyr)
|
rs571791610
|
0.00001
|
|
NM_001271049.2(CFAP221):c.2318+1G>A
|
rs759274091
|
0.00001
|
|
NM_001277115.2(DNAH11):c.*79C>T
|
rs886062189
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10005G>C (p.Glu3335Asp)
|
rs771208403
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10012A>T (p.Arg3338Trp)
|
rs769429079
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10026+17A>G
|
rs942351783
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10026+20T>C
|
rs138187683
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10026+8C>A
|
rs1166215870
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10027-12A>C
|
rs1415419765
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10027-6A>G
|
rs1788970483
|
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.10053C>G (p.Leu3351=)
|
rs766238014
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10056G>A (p.Thr3352=)
|
rs372186391
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10064T>C (p.Phe3355Ser)
|
rs757740647
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1006G>A (p.Glu336Lys)
|
rs374332166
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10073del (p.Ala3358fs)
|
rs1300956481
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10085A>C (p.Lys3362Thr)
|
rs756499246
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10094G>A (p.Cys3365Tyr)
|
rs1255276755
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10118A>G (p.Asn3373Ser)
|
rs373762766
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10136C>T (p.Ala3379Val)
|
rs868167567
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10161G>A (p.Glu3387=)
|
rs1060504816
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10165+19A>C
|
rs745649847
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10165+1_10165+3dup
|
rs1562554533
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10166-11C>T
|
rs1352323027
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10171A>T (p.Ile3391Phe)
|
rs748425990
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10183C>G (p.Gln3395Glu)
|
rs759904861
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10197C>A (p.Ser3399=)
|
rs2535331193
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10219C>G (p.Leu3407Val)
|
rs368656954
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10222T>C (p.Cys3408Arg)
|
rs1452154248
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10236T>A (p.Leu3412=)
|
rs753197426
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10239C>T (p.Leu3413=)
|
rs1356663506
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10252G>T (p.Val3418Leu)
|
rs771057807
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10259dup (p.Tyr3420Ter)
|
rs764414399
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10260C>T (p.Tyr3420=)
|
rs1789346276
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10263C>T (p.Val3421=)
|
rs374812632
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10269C>G (p.Pro3423=)
|
rs1459160363
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10280A>C (p.Gln3427Pro)
|
rs749896020
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10286G>A (p.Arg3429His)
|
rs756115857
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10289A>G (p.Gln3430Arg)
|
rs1165627746
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10294C>T (p.Leu3432=)
|
rs779832217
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10296G>A (p.Leu3432=)
|
rs991207165
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10308G>A (p.Lys3436=)
|
rs747291151
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10312G>A (p.Val3438Ile)
|
rs757419040
|
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.10332+10G>C
|
rs767044449
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10332+19C>G
|
rs765808829
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10332+2T>C
|
rs972753865
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10332+3A>G
|
rs774841011
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10333-17C>T
|
rs1311108807
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10333-1G>C
|
rs769279343
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10351G>A (p.Glu3451Lys)
|
rs765933686
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10352A>G (p.Glu3451Gly)
|
rs1250266065
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10357C>T (p.Leu3453=)
|
rs1381193487
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1035C>T (p.His345=)
|
rs139391790
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10371C>G (p.Ser3457=)
|
rs1377289675
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10377G>A (p.Leu3459=)
|
rs1789798688
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10392A>G (p.Thr3464=)
|
rs749269724
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10395T>A (p.Ile3465=)
|
rs779585124
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10406A>G (p.Asn3469Ser)
|
rs778187658
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10410C>T (p.Asn3470=)
|
rs746707590
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10418T>C (p.Leu3473Pro)
|
rs1283113333
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10419G>T (p.Leu3473=)
|
rs1460402546
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1045C>T (p.Leu349Phe)
|
rs1783576480
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10464C>G (p.His3488Gln)
|
rs376545278
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10473C>G (p.Arg3491=)
|
rs373124847
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10476G>A (p.Trp3492Ter)
|
rs2535357099
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10481T>C (p.Leu3494Pro)
|
rs747354470
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10483G>A (p.Val3495Met)
|
rs796396920
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10497G>A (p.Gln3499=)
|
rs745461419
|
0.00001
|
|
NM_001277115.2(DNAH11):c.104T>G (p.Leu35Arg)
|
rs1307384309
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10500A>G (p.Gln3500=)
|
rs1292469149
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10502A>T (p.Gln3501Leu)
|
rs769302465
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10515G>T (p.Trp3505Cys)
|
rs774060919
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10559G>A (p.Gly3520Asp)
|
rs758880826
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10562A>G (p.Gln3521Arg)
|
rs2128000172
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10568+11T>C
|
rs752024512
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10569-12C>A
|
rs1352256273
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10569-2A>G
|
rs867382922
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10573T>C (p.Leu3525=)
|
rs886062182
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10581C>T (p.Ala3527=)
|
rs564142525
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10591G>A (p.Ala3531Thr)
|
rs1045314694
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10638G>A (p.Thr3546=)
|
rs774414709
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10648G>C (p.Val3550Leu)
|
rs372249193
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10651C>G (p.Leu3551Val)
|
rs753542650
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10666G>A (p.Gly3556Ser)
|
rs1789899861
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10691+15A>G
|
rs1353894068
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10691+2T>C
|
rs886039341
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10691+5G>C
|
rs1429978132
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10696A>G (p.Ile3566Val)
|
rs761312236
|
0.00001
|
|
NM_001277115.2(DNAH11):c.106G>C (p.Glu36Gln)
|
rs943142146
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10703T>G (p.Ile3568Ser)
|
rs1397601481
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10715A>C (p.Glu3572Ala)
|
rs760008915
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10725T>C (p.Phe3575=)
|
rs775291484
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10737T>G (p.Phe3579Leu)
|
rs369261194
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10743T>C (p.Leu3581=)
|
rs556793213
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10748T>C (p.Leu3583Pro)
|
rs1238887554
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10755A>G (p.Thr3585=)
|
rs1230736889
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10761G>A (p.Leu3587=)
|
rs1467510424
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10765A>T (p.Asn3589Tyr)
|
rs758615719
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10779G>A (p.Lys3593=)
|
rs2535433923
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10789C>T (p.Gln3597Ter)
|
rs1060503063
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1078T>A (p.Leu360Ile)
|
rs777435555
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10795C>G (p.Gln3599Glu)
|
rs1782255875
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10797G>T (p.Gln3599His)
|
rs1434840281
|
0.00001
|
|
NM_001277115.2(DNAH11):c.107A>G (p.Glu36Gly)
|
rs537596387
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10817C>T (p.Thr3606Ile)
|
rs1457088401
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10829A>G (p.Asp3610Gly)
|
rs373667589
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10836A>G (p.Leu3612=)
|
rs966613143
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10838A>G (p.Glu3613Gly)
|
rs1229352440
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1083C>T (p.Ile361=)
|
rs747276170
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10841C>A (p.Ala3614Asp)
|
rs747186804
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10864A>C (p.Ser3622Arg)
|
rs770389913
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10876C>T (p.Pro3626Ser)
|
rs773883026
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10896+15G>A
|
rs759252870
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10896+17C>T
|
rs542294557
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10897-5A>G
|
rs746604716
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10932T>C (p.Ile3644=)
|
rs763919077
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10939A>C (p.Lys3647Gln)
|
rs1216990655
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10944T>C (p.Tyr3648=)
|
rs760969439
|
0.00001
|
|
NM_001277115.2(DNAH11):c.10963T>C (p.Leu3655=)
|
rs1348999489
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11007A>G (p.Lys3669=)
|
rs775506714
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11022G>A (p.Leu3674=)
|
rs774285024
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11029A>G (p.Thr3677Ala)
|
rs190727141
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1102A>G (p.Ile368Val)
|
rs1035113303
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11039C>T (p.Thr3680Ile)
|
rs759665328
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11061+10G>A
|
rs755667405
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11061+4G>A
|
rs565942670
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11062-13G>C
|
rs951201487
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11062-4A>G
|
rs376085865
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11085A>G (p.Glu3695=)
|
rs1782749955
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11087G>A (p.Arg3696Lys)
|
rs1262229619
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11141T>A (p.Leu3714His)
|
rs1230748044
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11155A>G (p.Ile3719Val)
|
rs1213978269
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11157T>A (p.Ile3719=)
|
rs1379060951
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11172A>G (p.Lys3724=)
|
rs1782754945
|
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.11187C>T (p.Tyr3729=)
|
rs772436494
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11190A>G (p.Gln3730=)
|
rs773720013
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1119T>C (p.Ser373=)
|
rs1157040937
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11202+20G>C
|
rs764879640
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11228C>T (p.Ala3743Val)
|
rs781745631
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11241T>C (p.Ala3747=)
|
rs1783076521
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11255A>C (p.Asp3752Ala)
|
rs767469708
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11271C>G (p.Ile3757Met)
|
rs757371608
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11275A>G (p.Ile3759Val)
|
rs1247510142
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11276T>A (p.Ile3759Asn)
|
rs746315507
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11313C>T (p.Tyr3771=)
|
rs760594586
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11324C>T (p.Ala3775Val)
|
rs776464348
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11327T>C (p.Leu3776Pro)
|
rs751761608
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11344C>G (p.Leu3782Val)
|
rs780334924
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11358C>T (p.Ser3786=)
|
rs914775325
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11361G>T (p.Gln3787His)
|
rs747740981
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11367T>C (p.Ala3789=)
|
rs770922562
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11373+11C>T
|
rs1336847487
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11374-4C>G
|
rs777354290
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11385A>G (p.Arg3795=)
|
rs973221126
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11404C>G (p.Leu3802Val)
|
rs773471429
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11421G>A (p.Leu3807=)
|
rs1783198728
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1142C>A (p.Pro381Gln)
|
rs1783581108
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11437G>C (p.Glu3813Gln)
|
rs777405986
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11459T>C (p.Val3820Ala)
|
rs760795257
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1148G>A (p.Arg383Gln)
|
rs751244693
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11496+13T>A
|
rs374693857
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11496+15C>T
|
rs576804351
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11496+16A>G
|
rs1783203135
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11497-12A>G
|
rs770237036
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11497-5T>C
|
rs1222633743
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11497-7A>G
|
rs763446237
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11499A>G (p.Ala3833=)
|
rs2535505531
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11500A>G (p.Ile3834Val)
|
rs988953435
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11504C>T (p.Ala3835Val)
|
rs72658810
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11521C>T (p.Arg3841Ter)
|
rs988794959
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11533C>T (p.Arg3845Ter)
|
rs1309805676
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11538T>A (p.Asp3846Glu)
|
rs781281531
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1153A>T (p.Ile385Leu)
|
rs1351145848
|
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.1155A>T (p.Ile385=)
|
rs1783581806
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11572G>A (p.Val3858Ile)
|
rs769064243
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11600A>C (p.Lys3867Thr)
|
rs1221667998
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11636A>C (p.Gln3879Pro)
|
rs749399463
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11643G>C (p.Leu3881=)
|
rs1165264396
|
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.11685T>C (p.Ala3895=)
|
rs1459951203
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11690+14C>G
|
rs755071195
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11690+15A>G
|
rs896308961
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11690+9G>T
|
rs1253461146
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11693A>G (p.Asn3898Ser)
|
rs547168550
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11735C>T (p.Thr3912Ile)
|
rs372135937
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11759T>C (p.Phe3920Ser)
|
rs958623389
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11771G>T (p.Ser3924Ile)
|
rs1034957876
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1177A>C (p.Asn393His)
|
rs374949958
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11782C>A (p.Pro3928Thr)
|
rs200216795
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11793C>T (p.Phe3931=)
|
rs774332996
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11839+20G>A
|
rs1248048550
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11839+9del
|
rs764375989
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11840-3C>T
|
rs757371660
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11840-9C>G
|
rs959827065
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11872A>C (p.Lys3958Gln)
|
rs1360840874
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11873A>G (p.Lys3958Arg)
|
rs1448605834
|
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.11883T>C (p.Asn3961=)
|
rs1458288272
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11898A>G (p.Gln3966=)
|
rs1783390477
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11909C>T (p.Thr3970Met)
|
rs370661427
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11911G>A (p.Val3971Met)
|
rs774648747
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1194+11T>C
|
rs756689512
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1195-12A>T
|
rs752546389
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1195-17C>G
|
rs1783824462
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1195-19C>G
|
rs563310283
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1195G>T (p.Ala399Ser)
|
rs1783824859
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11967+16C>T
|
rs1783393750
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11967+8T>A
|
rs766816766
|
0.00001
|
|
NM_001277115.2(DNAH11):c.11984C>T (p.Ala3995Val)
|
rs765575732
|
0.00001
|
|
NM_001277115.2(DNAH11):c.12025A>G (p.Ser4009Gly)
|
rs1270225505
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1203T>C (p.Ala401=)
|
rs781498100
|
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.12048C>T (p.Tyr4016=)
|
rs1237794350
|
0.00001
|
|
NM_001277115.2(DNAH11):c.12058A>G (p.Met4020Val)
|
rs765636819
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1207C>G (p.Leu403Val)
|
rs746037078
|
0.00001
|
|
NM_001277115.2(DNAH11):c.12080C>T (p.Thr4027Ile)
|
rs1408378374
|
0.00001
|
|
NM_001277115.2(DNAH11):c.12088G>A (p.Glu4030Lys)
|
rs763657340
|
0.00001
|
|
NM_001277115.2(DNAH11):c.12096C>A (p.Ile4032=)
|
rs1783574296
|
0.00001
|
|
NM_001277115.2(DNAH11):c.12108A>G (p.Gly4036=)
|
rs750427824
|
0.00001
|
|
NM_001277115.2(DNAH11):c.12115G>A (p.Glu4039Lys)
|
rs1482639715
|
0.00001
|
|
NM_001277115.2(DNAH11):c.12141A>T (p.Glu4047Asp)
|
rs575709581
|
0.00001
|
|
NM_001277115.2(DNAH11):c.12143C>A (p.Pro4048His)
|
rs754738080
|
0.00001
|
|
NM_001277115.2(DNAH11):c.12148A>G (p.Thr4050Ala)
|
rs777873576
|
0.00001
|
|
NM_001277115.2(DNAH11):c.12158T>C (p.Leu4053Pro)
|
rs1234034670
|
0.00001
|
|
NM_001277115.2(DNAH11):c.12173C>T (p.Ala4058Val)
|
rs369430487
|
0.00001
|
|
NM_001277115.2(DNAH11):c.12195+3A>G
|
rs763238523
|
0.00001
|
|
NM_001277115.2(DNAH11):c.12205G>C (p.Glu4069Gln)
|
rs753789425
|
0.00001
|
|
NM_001277115.2(DNAH11):c.12234A>G (p.Lys4078=)
|
rs2534081708
|
0.00001
|
|
NM_001277115.2(DNAH11):c.12240C>T (p.Ile4080=)
|
rs781402586
|
0.00001
|
|
NM_001277115.2(DNAH11):c.12250C>G (p.Leu4084Val)
|
rs878854437
|
0.00001
|
|
NM_001277115.2(DNAH11):c.12255C>G (p.Cys4085Trp)
|
rs374263671
|
0.00001
|
|
NM_001277115.2(DNAH11):c.12264C>T (p.His4088=)
|
rs368428210
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1227G>A (p.Leu409=)
|
rs749371323
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1230G>A (p.Arg410=)
|
rs2128436266
|
0.00001
|
|
NM_001277115.2(DNAH11):c.12311G>A (p.Arg4104Gln)
|
rs762791304
|
0.00001
|
|
NM_001277115.2(DNAH11):c.12319C>G (p.Pro4107Ala)
|
rs374648685
|
0.00001
|
|
NM_001277115.2(DNAH11):c.12329C>A (p.Pro4110His)
|
rs753983449
|
0.00001
|
|
NM_001277115.2(DNAH11):c.12334G>C (p.Asp4112His)
|
rs754948371
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1233A>C (p.Gly411=)
|
rs886062172
|
0.00001
|
|
NM_001277115.2(DNAH11):c.12361T>C (p.Tyr4121His)
|
rs905762039
|
0.00001
|
|
NM_001277115.2(DNAH11):c.12377C>G (p.Ala4126Gly)
|
rs140189037
|
0.00001
|
|
NM_001277115.2(DNAH11):c.12388-4A>G
|
rs758561213
|
0.00001
|
|
NM_001277115.2(DNAH11):c.12388-5C>T
|
rs759649556
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1240G>C (p.Glu414Gln)
|
rs1000957789
|
0.00001
|
|
NM_001277115.2(DNAH11):c.12428T>C (p.Met4143Thr)
|
rs751994566
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1243G>C (p.Glu415Gln)
|
rs1336566813
|
0.00001
|
|
NM_001277115.2(DNAH11):c.12461G>A (p.Arg4154His)
|
rs375799557
|
0.00001
|
|
NM_001277115.2(DNAH11):c.12472C>T (p.Arg4158Trp)
|
rs1351456737
|
0.00001
|
|
NM_001277115.2(DNAH11):c.12474G>A (p.Arg4158=)
|
rs748032246
|
0.00001
|
|
NM_001277115.2(DNAH11):c.12477G>A (p.Val4159=)
|
rs1784043668
|
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.12501A>T (p.Pro4167=)
|
rs1400685210
|
0.00001
|
|
NM_001277115.2(DNAH11):c.12505C>T (p.Leu4169=)
|
rs764262245
|
0.00001
|
|
NM_001277115.2(DNAH11):c.12507G>C (p.Leu4169=)
|
rs113963998
|
0.00001
|
|
NM_001277115.2(DNAH11):c.12508-14C>T
|
rs886038457
|
0.00001
|
|
NM_001277115.2(DNAH11):c.12546C>T (p.Ala4182=)
|
rs777625877
|
0.00001
|
|
NM_001277115.2(DNAH11):c.12548C>T (p.Pro4183Leu)
|
rs746934962
|
0.00001
|
|
NM_001277115.2(DNAH11):c.12582C>T (p.Tyr4194=)
|
rs748191223
|
0.00001
|
|
NM_001277115.2(DNAH11):c.12607A>G (p.Ser4203Gly)
|
rs761142020
|
0.00001
|
|
NM_001277115.2(DNAH11):c.12616C>A (p.Leu4206Met)
|
rs777004813
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1263G>T (p.Gln421His)
|
rs1230129876
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1264G>A (p.Val422Met)
|
rs773158013
|
0.00001
|
|
NM_001277115.2(DNAH11):c.12654G>C (p.Leu4218=)
|
rs1261810390
|
0.00001
|
|
NM_001277115.2(DNAH11):c.12670A>G (p.Thr4224Ala)
|
rs748398869
|
0.00001
|
|
NM_001277115.2(DNAH11):c.12671C>A (p.Thr4224Asn)
|
rs878854438
|
0.00001
|
|
NM_001277115.2(DNAH11):c.12672T>C (p.Thr4224=)
|
rs772085365
|
0.00001
|
|
NM_001277115.2(DNAH11):c.12692A>C (p.Glu4231Ala)
|
rs1332284659
|
0.00001
|
|
NM_001277115.2(DNAH11):c.12723T>C (p.Asp4241=)
|
rs563090141
|
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.12750+8G>A
|
rs369873077
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1275C>T (p.Asn425=)
|
rs760295233
|
0.00001
|
|
NM_001277115.2(DNAH11):c.12766G>A (p.Asp4256Asn)
|
rs753669289
|
0.00001
|
|
NM_001277115.2(DNAH11):c.12771C>T (p.Asp4257=)
|
rs1476263562
|
0.00001
|
|
NM_001277115.2(DNAH11):c.12778G>A (p.Glu4260Lys)
|
rs1237802706
|
0.00001
|
|
NM_001277115.2(DNAH11):c.12781A>G (p.Lys4261Glu)
|
rs1463277085
|
0.00001
|
|
NM_001277115.2(DNAH11):c.12785T>C (p.Leu4262Pro)
|
rs751754128
|
0.00001
|
|
NM_001277115.2(DNAH11):c.12789A>G (p.Pro4263=)
|
rs757399457
|
0.00001
|
|
NM_001277115.2(DNAH11):c.12815T>C (p.Met4272Thr)
|
rs1049304176
|
0.00001
|
|
NM_001277115.2(DNAH11):c.12827C>T (p.Ser4276Leu)
|
rs1477535269
|
0.00001
|
|
NM_001277115.2(DNAH11):c.12837C>T (p.Ser4279=)
|
rs759420250
|
0.00001
|
|
NM_001277115.2(DNAH11):c.12840A>G (p.Pro4280=)
|
rs765016952
|
0.00001
|
|
NM_001277115.2(DNAH11):c.12852T>G (p.Val4284=)
|
rs757487452
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1286C>T (p.Thr429Ile)
|
rs753357981
|
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.1290C>G (p.Phe430Leu)
|
rs765276431
|
0.00001
|
|
NM_001277115.2(DNAH11):c.12925A>G (p.Ser4309Gly)
|
rs1235125251
|
0.00001
|
|
NM_001277115.2(DNAH11):c.12933+10A>C
|
rs1784449526
|
0.00001
|
|
NM_001277115.2(DNAH11):c.12933+12G>A
|
rs967892030
|
0.00001
|
|
NM_001277115.2(DNAH11):c.12934-7A>G
|
rs991409816
|
0.00001
|
|
NM_001277115.2(DNAH11):c.12945A>G (p.Ala4315=)
|
rs1784453428
|
0.00001
|
|
NM_001277115.2(DNAH11):c.12970C>T (p.Gln4324Ter)
|
rs769756688
|
0.00001
|
|
NM_001277115.2(DNAH11):c.129G>A (p.Glu43=)
|
rs1457396865
|
0.00001
|
|
NM_001277115.2(DNAH11):c.13035T>C (p.Tyr4345=)
|
rs545264816
|
0.00001
|
|
NM_001277115.2(DNAH11):c.13041A>G (p.Leu4347=)
|
rs1784457608
|
0.00001
|
|
NM_001277115.2(DNAH11):c.13046A>G (p.Gln4349Arg)
|
rs751897641
|
0.00001
|
|
NM_001277115.2(DNAH11):c.13050-18C>A
|
rs755689080
|
0.00001
|
|
NM_001277115.2(DNAH11):c.13050-4C>T
|
rs778868267
|
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.13107C>T (p.Thr4369=)
|
rs777694425
|
0.00001
|
|
NM_001277115.2(DNAH11):c.13112C>T (p.Pro4371Leu)
|
rs1238638659
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1311T>A (p.Tyr437Ter)
|
rs559143773
|
0.00001
|
|
NM_001277115.2(DNAH11):c.13163-11T>A
|
rs1351139321
|
0.00001
|
|
NM_001277115.2(DNAH11):c.13171C>T (p.Gln4391Ter)
|
rs761855200
|
0.00001
|
|
NM_001277115.2(DNAH11):c.13183C>T (p.Arg4395Ter)
|
rs757784023
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1319A>T (p.Lys440Ile)
|
rs1429315735
|
0.00001
|
|
NM_001277115.2(DNAH11):c.13216T>G (p.Leu4406Val)
|
rs760558232
|
0.00001
|
|
NM_001277115.2(DNAH11):c.13227T>C (p.Asp4409=)
|
rs1784701008
|
0.00001
|
|
NM_001277115.2(DNAH11):c.13233C>G (p.Thr4411=)
|
rs1367102836
|
0.00001
|
|
NM_001277115.2(DNAH11):c.13239A>G (p.Lys4413=)
|
rs1784702468
|
0.00001
|
|
NM_001277115.2(DNAH11):c.13246G>A (p.Glu4416Lys)
|
rs764231441
|
0.00001
|
|
NM_001277115.2(DNAH11):c.13261C>T (p.Pro4421Ser)
|
rs369210437
|
0.00001
|
|
NM_001277115.2(DNAH11):c.13276G>A (p.Ala4426Thr)
|
rs771449722
|
0.00001
|
|
NM_001277115.2(DNAH11):c.13278A>T (p.Ala4426=)
|
rs773266815
|
0.00001
|
|
NM_001277115.2(DNAH11):c.13282C>T (p.Leu4428Phe)
|
rs376170464
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1328G>A (p.Ser443Asn)
|
rs751343231
|
0.00001
|
|
NM_001277115.2(DNAH11):c.13303+3_13303+43dup
|
rs775161725
|
0.00001
|
|
NM_001277115.2(DNAH11):c.13303+7C>T
|
rs767485644
|
0.00001
|
|
NM_001277115.2(DNAH11):c.13304-15G>A
|
rs756735704
|
0.00001
|
|
NM_001277115.2(DNAH11):c.13304-5C>T
|
rs1485395412
|
0.00001
|
|
NM_001277115.2(DNAH11):c.13304-7G>T
|
rs781174681
|
0.00001
|
|
NM_001277115.2(DNAH11):c.13308C>A (p.Ala4436=)
|
rs374236716
|
0.00001
|
|
NM_001277115.2(DNAH11):c.13313G>A (p.Trp4438Ter)
|
rs1784790339
|
0.00001
|
|
NM_001277115.2(DNAH11):c.13323A>G (p.Gln4441=)
|
rs1344734344
|
0.00001
|
|
NM_001277115.2(DNAH11):c.13362A>T (p.Ala4454=)
|
rs749087633
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1339G>A (p.Gly447Arg)
|
rs1410439008
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1342A>G (p.Arg448Gly)
|
rs756345487
|
0.00001
|
|
NM_001277115.2(DNAH11):c.13431G>A (p.Glu4477=)
|
rs1784801762
|
0.00001
|
|
NM_001277115.2(DNAH11):c.13445G>C (p.Arg4482Thr)
|
rs191791959
|
0.00001
|
|
NM_001277115.2(DNAH11):c.13455G>A (p.Leu4485=)
|
rs1489602749
|
0.00001
|
|
NM_001277115.2(DNAH11):c.13457G>A (p.Arg4486Lys)
|
rs376735165
|
0.00001
|
|
NM_001277115.2(DNAH11):c.13461C>A (p.Gly4487=)
|
rs769884268
|
0.00001
|
|
NM_001277115.2(DNAH11):c.13469A>T (p.Tyr4490Phe)
|
rs1320072390
|
0.00001
|
|
NM_001277115.2(DNAH11):c.13480_13489dup (p.Lys4497fs)
|
rs1784807172
|
0.00001
|
|
NM_001277115.2(DNAH11):c.13542A>G (p.Leu4514=)
|
rs1278794334
|
0.00001
|
|
NM_001277115.2(DNAH11):c.13545A>G (p.Glu4515=)
|
rs1378301702
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1356A>G (p.Pro452=)
|
rs528310220
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1358G>T (p.Trp453Leu)
|
rs749372718
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1367A>G (p.Gln456Arg)
|
rs2534520159
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1375C>T (p.Leu459=)
|
rs547976947
|
0.00001
|
|
NM_001277115.2(DNAH11):c.137C>T (p.Ala46Val)
|
rs557408462
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1383T>C (p.Phe461=)
|
rs1205183789
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1384T>C (p.Cys462Arg)
|
rs748697831
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1418A>G (p.Lys473Arg)
|
rs1562668351
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1426-19T>C
|
rs745554406
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1429A>G (p.Ile477Val)
|
rs1009606912
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1440C>T (p.Thr480=)
|
rs367633070
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1459C>G (p.Leu487Val)
|
rs759291863
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1468C>T (p.Leu490=)
|
rs758448845
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1469T>A (p.Leu490Gln)
|
rs1227077036
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1478G>A (p.Gly493Asp)
|
rs544425376
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1498T>C (p.Leu500=)
|
rs1179924090
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1515C>T (p.His505=)
|
rs773061951
|
0.00001
|
|
NM_001277115.2(DNAH11):c.152G>C (p.Arg51Pro)
|
rs753634502
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1584C>T (p.Cys528=)
|
rs1445662882
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1589A>T (p.Asn530Ile)
|
rs770674615
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1593+12C>T
|
rs764206015
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1622A>T (p.Lys541Met)
|
rs971937487
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1631C>T (p.Thr544Ile)
|
rs1214292900
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1653T>C (p.Leu551=)
|
rs569086206
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1677C>T (p.Phe559=)
|
rs771371993
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1710+20T>C
|
rs767314046
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1710+3T>G
|
rs376968286
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1719C>A (p.Thr573=)
|
rs749092321
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1730A>G (p.Asn577Ser)
|
rs770879506
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1733T>A (p.Phe578Tyr)
|
rs760013375
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1750G>A (p.Val584Ile)
|
rs371748491
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1773T>C (p.His591=)
|
rs1325191043
|
0.00001
|
|
NM_001277115.2(DNAH11):c.177G>T (p.Val59=)
|
rs751721373
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1788G>A (p.Val596=)
|
rs976690309
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1817G>A (p.Cys606Tyr)
|
rs781183805
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1833T>C (p.Asn611=)
|
rs763330132
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1837C>T (p.His613Tyr)
|
rs768969101
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1848+16G>A
|
rs1237273194
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1848+17G>T
|
rs1411481376
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1852G>A (p.Glu618Lys)
|
rs776260845
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1856G>T (p.Cys619Phe)
|
rs759607757
|
0.00001
|
|
NM_001277115.2(DNAH11):c.186C>T (p.Leu62=)
|
rs1476469305
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1886C>T (p.Pro629Leu)
|
rs755481519
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1892C>G (p.Thr631Ser)
|
rs1392626156
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1908A>G (p.Lys636=)
|
rs2534585869
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1913C>A (p.Ala638Asp)
|
rs765276365
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1917G>T (p.Gln639His)
|
rs1212796132
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1929A>G (p.Gln643=)
|
rs374406494
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1930C>T (p.Arg644Ter)
|
rs1228238442
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1931G>A (p.Arg644Gln)
|
rs998043944
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1935T>C (p.Leu645=)
|
rs1784558516
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1964T>C (p.Leu655Pro)
|
rs1784559898
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1973+6T>C
|
rs774830486
|
0.00001
|
|
NM_001277115.2(DNAH11):c.1974-4A>G
|
rs774225092
|
0.00001
|
|
NM_001277115.2(DNAH11):c.19G>A (p.Ala7Thr)
|
rs755966311
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2013G>A (p.Lys671=)
|
rs752070111
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2028C>T (p.Thr676=)
|
rs1784591165
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2077A>T (p.Asn693Tyr)
|
rs377237884
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2100C>T (p.Phe700=)
|
rs756374306
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2115C>G (p.Pro705=)
|
rs777633639
|
0.00001
|
|
NM_001277115.2(DNAH11):c.212G>A (p.Gly71Glu)
|
rs771623831
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2139T>C (p.Asn713=)
|
rs1245407970
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2142T>C (p.Gly714=)
|
rs2128443044
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2169+18T>A
|
rs539702785
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2170-10A>T
|
rs762557236
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2196A>G (p.Lys732=)
|
rs757207387
|
0.00001
|
|
NM_001277115.2(DNAH11):c.21C>T (p.Ala7=)
|
rs779664174
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2223C>T (p.Asp741=)
|
rs1313863356
|
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.2256A>G (p.Lys752=)
|
rs775806737
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2275-20T>G
|
rs746418961
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2277C>T (p.Tyr759=)
|
rs907845473
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2281G>A (p.Gly761Arg)
|
rs774005260
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2299G>A (p.Val767Met)
|
rs766354452
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2327C>T (p.Thr776Met)
|
rs764257309
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2333T>C (p.Leu778Pro)
|
rs1784668263
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2352G>A (p.Leu784=)
|
rs1465890970
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2379C>T (p.Asp793=)
|
rs375262840
|
0.00001
|
|
NM_001277115.2(DNAH11):c.237G>A (p.Gln79=)
|
rs1263171996
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2403G>A (p.Thr801=)
|
rs767657769
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2406G>A (p.Trp802Ter)
|
rs1310930757
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2409G>A (p.Leu803=)
|
rs1048426613
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2435A>T (p.Tyr812Phe)
|
rs560268294
|
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.2460G>A (p.Thr820=)
|
rs1023663585
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2476A>G (p.Arg826Gly)
|
rs760855822
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2485C>T (p.Arg829Cys)
|
rs767607595
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2494A>G (p.Lys832Glu)
|
rs758798333
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2502G>T (p.Val834=)
|
rs780817757
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2511C>T (p.Ile837=)
|
rs1784681432
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2515C>G (p.Gln839Glu)
|
rs1427132712
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2533G>A (p.Ala845Thr)
|
rs1269684711
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2540G>T (p.Cys847Phe)
|
rs760954142
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2563C>T (p.His855Tyr)
|
rs1252556407
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2569C>T (p.Arg857Ter)
|
rs72655998
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2593G>C (p.Asp865His)
|
rs1390479396
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2596A>G (p.Lys866Glu)
|
rs774136727
|
0.00001
|
|
NM_001277115.2(DNAH11):c.259C>T (p.Arg87Trp)
|
rs560422553
|
0.00001
|
|
NM_001277115.2(DNAH11):c.25G>T (p.Glu9Ter)
|
rs753645186
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2613A>C (p.Thr871=)
|
rs771205044
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2614A>G (p.Lys872Glu)
|
rs1211920866
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2631C>G (p.Ile877Met)
|
rs1003575600
|
0.00001
|
|
NM_001277115.2(DNAH11):c.264G>A (p.Gln88=)
|
rs767753234
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2664C>T (p.Val888=)
|
rs757649943
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2665G>A (p.Glu889Lys)
|
rs767231963
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2679G>A (p.Lys893=)
|
rs572033374
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2685C>G (p.Phe895Leu)
|
rs1482253111
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2689G>A (p.Ala897Thr)
|
rs767822847
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2697C>T (p.Pro899=)
|
rs1166219486
|
0.00001
|
|
NM_001277115.2(DNAH11):c.270T>C (p.Leu90=)
|
rs750522660
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2721T>C (p.Tyr907=)
|
rs1785003459
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2731A>G (p.Ile911Val)
|
rs1047144738
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2736C>T (p.Asp912=)
|
rs780377373
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2737G>A (p.Asp913Asn)
|
rs749413158
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2767A>G (p.Ile923Val)
|
rs772628921
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2774A>G (p.His925Arg)
|
rs759163666
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2776G>A (p.Asp926Asn)
|
rs752195932
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2787C>G (p.Phe929Leu)
|
rs552807434
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2792T>A (p.Leu931Gln)
|
rs1450132388
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2813T>C (p.Leu938Ser)
|
rs1489140637
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2855C>T (p.Pro952Leu)
|
rs1279849861
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2857C>G (p.Pro953Ala)
|
rs1055453070
|
0.00001
|
|
NM_001277115.2(DNAH11):c.285A>G (p.Glu95=)
|
rs1782669287
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2871T>G (p.Phe957Leu)
|
rs567299074
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2874A>C (p.Lys958Asn)
|
rs180920616
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2880C>T (p.Ser960=)
|
rs1785014151
|
0.00001
|
|
NM_001277115.2(DNAH11):c.288C>T (p.Ser96=)
|
rs576486289
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2892G>T (p.Glu964Asp)
|
rs569413184
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2918T>C (p.Val973Ala)
|
rs1785015935
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2926A>G (p.Met976Val)
|
rs1170781791
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2933G>A (p.Cys978Tyr)
|
rs769462010
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2936A>G (p.Asn979Ser)
|
rs1380858783
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2957A>G (p.Gln986Arg)
|
rs750258287
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2964C>T (p.Asn988=)
|
rs558348627
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2966G>A (p.Arg989Gln)
|
rs1178187217
|
0.00001
|
|
NM_001277115.2(DNAH11):c.297G>A (p.Pro99=)
|
rs886038461
|
0.00001
|
|
NM_001277115.2(DNAH11):c.2997T>C (p.Tyr999=)
|
rs571896470
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3000+13T>C
|
rs1359567923
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3000+3A>G
|
rs781625159
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3002A>G (p.Asn1001Ser)
|
rs1468087350
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3036C>T (p.Val1012=)
|
rs1168201753
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3037A>G (p.Arg1013Gly)
|
rs774600269
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3046A>T (p.Ile1016Phe)
|
rs750498728
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3049A>T (p.Met1017Leu)
|
rs372940493
|
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.307G>A (p.Val103Met)
|
rs1253466147
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3083T>C (p.Leu1028Ser)
|
rs372817321
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3084A>G (p.Leu1028=)
|
rs770918827
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3097A>G (p.Thr1033Ala)
|
rs1298861003
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3117C>T (p.Tyr1039=)
|
rs760622693
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3133C>T (p.Arg1045Ter)
|
rs377691013
|
0.00001
|
|
NM_001277115.2(DNAH11):c.314G>C (p.Ser105Thr)
|
rs755427308
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3157C>T (p.Leu1053Phe)
|
rs1287536955
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3162G>T (p.Leu1054Phe)
|
rs888122554
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3164A>G (p.Tyr1055Cys)
|
rs758134465
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3173C>A (p.Ala1058Asp)
|
rs756753955
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3177G>A (p.Val1059=)
|
rs774076108
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3183C>T (p.Ser1061=)
|
rs528143053
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3192G>C (p.Met1064Ile)
|
rs760927285
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3194A>G (p.Asp1065Gly)
|
rs1269889816
|
0.00001
|
|
NM_001277115.2(DNAH11):c.320C>T (p.Ala107Val)
|
rs1346070981
|
0.00001
|
|
NM_001277115.2(DNAH11):c.321C>T (p.Ala107=)
|
rs1562648746
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3220G>A (p.Glu1074Lys)
|
rs765778415
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3222A>G (p.Glu1074=)
|
rs1457009469
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3231A>G (p.Pro1077=)
|
rs1785058934
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3234T>A (p.Thr1078=)
|
rs753130719
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3255+11C>T
|
rs369669831
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3255+17G>C
|
rs780637544
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3256-12T>G
|
rs751950923
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3263T>C (p.Ile1088Thr)
|
rs755583135
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3279T>C (p.Tyr1093=)
|
rs753829354
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3282T>C (p.Val1094=)
|
rs1487540853
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3291C>A (p.Ser1097Arg)
|
rs544553237
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3303C>G (p.Asp1101Glu)
|
rs564433477
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3306T>C (p.Phe1102=)
|
rs764127139
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3307A>G (p.Arg1103Gly)
|
rs774595521
|
0.00001
|
|
NM_001277115.2(DNAH11):c.330G>T (p.Gly110=)
|
rs952333583
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3320G>A (p.Ser1107Asn)
|
rs746194866
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3333G>A (p.Val1111=)
|
rs1469670866
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3342G>A (p.Lys1114=)
|
rs767107624
|
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.3370A>G (p.Ile1124Val)
|
rs752462870
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3425+19T>G
|
rs2128447128
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3425+1G>A
|
rs765958312
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3426-15A>G
|
rs759084854
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3426-16C>T
|
rs890405799
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3426-18T>C
|
rs886038462
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3426-1G>A
|
rs774855011
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3431A>G (p.Asn1144Ser)
|
rs762955756
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3440A>G (p.Gln1147Arg)
|
rs764068188
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3456G>A (p.Glu1152=)
|
rs761664847
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3461A>G (p.Asp1154Gly)
|
rs754139456
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3465C>A (p.Ser1155=)
|
rs755144481
|
0.00001
|
|
NM_001277115.2(DNAH11):c.346C>G (p.Gln116Glu)
|
rs374802008
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3476G>A (p.Arg1159Lys)
|
rs1192624503
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3497A>C (p.His1166Pro)
|
rs575476197
|
0.00001
|
|
NM_001277115.2(DNAH11):c.351+12C>T
|
rs1317067676
|
0.00001
|
|
NM_001277115.2(DNAH11):c.352-20T>C
|
rs1423591530
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3531G>C (p.Leu1177=)
|
rs759816097
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3535G>A (p.Val1179Ile)
|
rs201764507
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3544C>T (p.Arg1182Ter)
|
rs374107286
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3556A>G (p.Thr1186Ala)
|
rs946453320
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3577C>T (p.Leu1193=)
|
rs746164181
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3579A>G (p.Leu1193=)
|
rs755816573
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3587C>T (p.Thr1196Met)
|
rs779537030
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3592A>G (p.Thr1198Ala)
|
rs748165183
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3608A>G (p.Tyr1203Cys)
|
rs1277514397
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3648+11A>G
|
rs559120051
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3648+15G>A
|
rs749007449
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3648+2T>C
|
rs1785094598
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3649-16G>A
|
rs1224633830
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3649-20T>C
|
rs886038463
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3649-5T>C
|
rs1447144756
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3650A>G (p.Glu1217Gly)
|
rs550890688
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3676A>G (p.Lys1226Glu)
|
rs1200553312
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3684C>T (p.Ile1228=)
|
rs570794632
|
0.00001
|
|
NM_001277115.2(DNAH11):c.369C>T (p.Asn123=)
|
rs779550450
|
0.00001
|
|
NM_001277115.2(DNAH11):c.36C>G (p.Asp12Glu)
|
rs1180027756
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3706G>C (p.Val1236Leu)
|
rs777319170
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3711A>G (p.Ser1237=)
|
rs181805158
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3714T>G (p.Pro1238=)
|
rs780975797
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3730G>A (p.Val1244Ile)
|
rs1223706529
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3732C>T (p.Val1244=)
|
rs1018800661
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3740T>A (p.Ile1247Lys)
|
rs375665693
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3743G>C (p.Arg1248Thr)
|
rs558419497
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3766-20_3766-19insC
|
rs1387490107
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3766-4T>G
|
rs775929199
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3775G>A (p.Ala1259Thr)
|
rs763751899
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3821A>C (p.Asn1274Thr)
|
rs913756108
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3824C>G (p.Ala1275Gly)
|
rs747173653
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3835T>C (p.Tyr1279His)
|
rs746381062
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3852G>A (p.Lys1284=)
|
rs764336866
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3853-12T>A
|
rs727502966
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3853-2A>G
|
rs750640740
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3876A>T (p.Leu1292Phe)
|
rs1469978035
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3878A>G (p.Glu1293Gly)
|
rs768978328
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3882A>G (p.Glu1294=)
|
rs779353597
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3893A>G (p.Gln1298Arg)
|
rs760304418
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3910del (p.Arg1304fs)
|
rs2128452309
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3919G>C (p.Glu1307Gln)
|
rs1204977932
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3959G>A (p.Arg1320His)
|
rs1173183119
|
0.00001
|
|
NM_001277115.2(DNAH11):c.395A>G (p.Lys132Arg)
|
rs374076948
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3970A>C (p.Lys1324Gln)
|
rs748626097
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3975G>T (p.Leu1325Phe)
|
rs201806999
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3980A>G (p.Lys1327Arg)
|
rs1282282699
|
0.00001
|
|
NM_001277115.2(DNAH11):c.3991G>A (p.Asp1331Asn)
|
rs746665980
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4009C>T (p.Arg1337Ter)
|
rs1447609804
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4012-10G>A
|
rs943176979
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4014A>G (p.Arg1338=)
|
rs752711407
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4017C>T (p.Ser1339=)
|
rs1785776188
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4029G>C (p.Trp1343Cys)
|
rs1785776846
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4052T>A (p.Ile1351Asn)
|
rs202100672
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4056T>C (p.His1352=)
|
rs745575598
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4065G>C (p.Gln1355His)
|
rs998146886
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4066A>G (p.Met1356Val)
|
rs1388797554
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4095+10A>G
|
rs1469128536
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4095+19T>C
|
rs1785781767
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4095+20A>G
|
rs759688406
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4095+3G>A
|
rs375356107
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4096-12A>G
|
rs376963667
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4096-20T>C
|
rs949410187
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4099A>G (p.Ile1367Val)
|
rs2128453076
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4108C>T (p.Leu1370Phe)
|
rs1276808115
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4118A>C (p.Glu1373Ala)
|
rs768019472
|
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.4133A>G (p.Asp1378Gly)
|
rs1185377622
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4146C>T (p.Gly1382=)
|
rs373963370
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4147C>T (p.Leu1383=)
|
rs376571975
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4164G>A (p.Lys1388=)
|
rs377689546
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4174G>A (p.Ala1392Thr)
|
rs764899158
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4194A>G (p.Thr1398=)
|
rs780979743
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4209T>A (p.Pro1403=)
|
rs1347131272
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4215C>T (p.Leu1405=)
|
rs886038465
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4218G>T (p.Arg1406Ser)
|
rs1016300664
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4220A>G (p.Asp1407Gly)
|
rs567405173
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4233C>T (p.His1411=)
|
rs773424828
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4241T>G (p.Met1414Arg)
|
rs1339751146
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4242G>A (p.Met1414Ile)
|
rs1785849014
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4249A>T (p.Ile1417Phe)
|
rs1785849179
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4250T>C (p.Ile1417Thr)
|
rs536675513
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4254+12T>C
|
rs777162998
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4255-10C>G
|
rs200917573
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4255-12T>C
|
rs1240528993
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4255-17T>C
|
rs761354812
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4255-19C>G
|
rs773882078
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4256T>A (p.Val1419Asp)
|
rs778176102
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4260G>A (p.Lys1420=)
|
rs751806796
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4281A>T (p.Thr1427=)
|
rs746389515
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4290del (p.Asp1431fs)
|
rs1179938835
|
0.00001
|
|
NM_001277115.2(DNAH11):c.429T>C (p.Ser143=)
|
rs777303498
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4300G>A (p.Ala1434Thr)
|
rs772534040
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4307G>A (p.Arg1436Gln)
|
rs766184035
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4308G>A (p.Arg1436=)
|
rs906075766
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4312C>T (p.His1438Tyr)
|
rs1247555879
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4315A>G (p.Arg1439Gly)
|
rs1035326227
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4318G>C (p.Val1440Leu)
|
rs753773546
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4331T>C (p.Val1444Ala)
|
rs1163461931
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4334G>A (p.Arg1445Gln)
|
rs751896015
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4345G>C (p.Asp1449His)
|
rs767717928
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4355T>C (p.Val1452Ala)
|
rs943703703
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4377+9C>T
|
rs6968114
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4395T>G (p.Ser1465Arg)
|
rs763928577
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4401C>T (p.Thr1467=)
|
rs769796760
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4425C>T (p.Tyr1475=)
|
rs373706559
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4426G>A (p.Glu1476Lys)
|
rs1188885955
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4436A>G (p.Tyr1479Cys)
|
rs758744109
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4445G>A (p.Gly1482Asp)
|
rs374100278
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4458A>G (p.Leu1486=)
|
rs768404181
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4467T>C (p.Asp1489=)
|
rs2128454178
|
0.00001
|
|
NM_001277115.2(DNAH11):c.447A>G (p.Gly149=)
|
rs886062170
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4491G>A (p.Glu1497=)
|
rs564202359
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4493A>G (p.His1498Arg)
|
rs367779570
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4500+14T>A
|
rs781031455
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4500+9G>C
|
rs767971631
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4515T>C (p.Thr1505=)
|
rs767981709
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4532A>T (p.Tyr1511Phe)
|
rs565283604
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4536A>G (p.Val1512=)
|
rs1229279787
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4545C>T (p.Phe1515=)
|
rs1470537938
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4547T>C (p.Ile1516Thr)
|
rs746101357
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4554A>G (p.Gln1518=)
|
rs749424527
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4563C>G (p.Ser1521Arg)
|
rs1786842841
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4582A>G (p.Ile1528Val)
|
rs1281559792
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4590C>T (p.Asp1530=)
|
rs2534772158
|
0.00001
|
|
NM_001277115.2(DNAH11):c.459G>A (p.Ala153=)
|
rs770376516
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4604C>A (p.Thr1535Asn)
|
rs758270979
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4611G>A (p.Met1537Ile)
|
rs1377004841
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4621C>T (p.Arg1541Ter)
|
rs757013900
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4622G>A (p.Arg1541Gln)
|
rs780372134
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4636C>T (p.Leu1546=)
|
rs1443814276
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4642A>G (p.Ser1548Gly)
|
rs1304771074
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4668T>G (p.Ile1556Met)
|
rs200603235
|
0.00001
|
|
NM_001277115.2(DNAH11):c.466C>G (p.Leu156Val)
|
rs10269832
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4672A>T (p.Ile1558Phe)
|
rs1786849433
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4678C>G (p.Leu1560Val)
|
rs878854443
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4703A>T (p.Asp1568Val)
|
rs751450953
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4713T>C (p.Asp1571=)
|
rs72657324
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4725+16G>T
|
rs778443530
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4725+9A>G
|
rs772235487
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4726-18T>A
|
rs1049767621
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4747A>G (p.Lys1583Glu)
|
rs776585671
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4748A>G (p.Lys1583Arg)
|
rs1041361014
|
0.00001
|
|
NM_001277115.2(DNAH11):c.476T>C (p.Val159Ala)
|
rs1161362240
|
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.4781C>T (p.Pro1594Leu)
|
rs559298487
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4784A>C (p.Asn1595Thr)
|
rs1032900212
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4786C>T (p.Leu1596Phe)
|
rs1433172197
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4790A>G (p.Tyr1597Cys)
|
rs886062176
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4805A>G (p.Asp1602Gly)
|
rs548213797
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4817+15A>G
|
rs1411925317
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4817+17A>G
|
rs1023364988
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4817+6A>C
|
rs1006884453
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4817+7A>T
|
rs563875721
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4817+8T>A
|
rs1454994196
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4818-20A>C
|
rs766338273
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4818-5T>C
|
rs1442933638
|
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.4867A>G (p.Ile1623Val)
|
rs746973081
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4879C>T (p.Arg1627Cys)
|
rs727502967
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4901C>G (p.Ala1634Gly)
|
rs1583553658
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4908A>G (p.Leu1636=)
|
rs1229271742
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4935G>A (p.Gln1645=)
|
rs769779537
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4944+1G>A
|
rs878854444
|
0.00001
|
|
NM_001277115.2(DNAH11):c.495+17A>C
|
rs766688633
|
0.00001
|
|
NM_001277115.2(DNAH11):c.495+18A>G
|
rs779666043
|
0.00001
|
|
NM_001277115.2(DNAH11):c.495+19T>G
|
rs1218585077
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4956C>T (p.His1652=)
|
rs751325912
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4957C>T (p.Leu1653Phe)
|
rs1022623191
|
0.00001
|
|
NM_001277115.2(DNAH11):c.496-20C>G
|
rs984692538
|
0.00001
|
|
NM_001277115.2(DNAH11):c.496-5T>C
|
rs375097413
|
0.00001
|
|
NM_001277115.2(DNAH11):c.4992G>A (p.Gln1664=)
|
rs1781994873
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5009A>G (p.Asp1670Gly)
|
rs368565591
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5017G>A (p.Ala1673Thr)
|
rs1363669839
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5036T>C (p.Met1679Thr)
|
rs1370716502
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5043C>T (p.Ser1681=)
|
rs1374986860
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5047G>T (p.Glu1683Ter)
|
rs767308949
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5067C>T (p.Phe1689=)
|
rs374856649
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5094+8T>C
|
rs779987165
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5095-6C>T
|
rs768807134
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5115A>G (p.Gln1705=)
|
rs772630553
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5145dup (p.His1716fs)
|
rs2534838919
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5194C>G (p.Leu1732Val)
|
rs745519889
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5196G>A (p.Leu1732=)
|
rs747209893
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5218C>T (p.Gln1740Ter)
|
rs958055112
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5226A>G (p.Ala1742=)
|
rs774296971
|
0.00001
|
|
NM_001277115.2(DNAH11):c.522G>T (p.Lys174Asn)
|
rs1321488386
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5242A>G (p.Ile1748Val)
|
rs377210446
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5259T>C (p.Asp1753=)
|
rs765453467
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5262A>G (p.Val1754=)
|
rs370864058
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5264G>C (p.Gly1755Ala)
|
rs758509273
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5269G>T (p.Ala1757Ser)
|
rs916340869
|
0.00001
|
|
NM_001277115.2(DNAH11):c.526A>G (p.Asn176Asp)
|
rs1263841122
|
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.5310G>A (p.Lys1770=)
|
rs898900108
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5325A>G (p.Lys1775=)
|
rs761805119
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5328+12A>G
|
rs1782136868
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5328+14T>G
|
rs181945074
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5328+16G>A
|
rs1194082427
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5329-11A>G
|
rs1272424549
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5329-16A>C
|
rs772012052
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5329-19A>G
|
rs748084989
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5329-6T>G
|
rs371867661
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5329-9T>C
|
rs773240082
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5349G>T (p.Leu1783=)
|
rs763225721
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5350A>G (p.Ile1784Val)
|
rs764134388
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5376A>G (p.Pro1792=)
|
rs756474495
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5393A>G (p.Lys1798Arg)
|
rs753545876
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5395A>C (p.Ile1799Leu)
|
rs1366183602
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5396T>C (p.Ile1799Thr)
|
rs754635719
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5408G>T (p.Cys1803Phe)
|
rs540723676
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5413A>G (p.Ile1805Val)
|
rs776549742
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5414T>C (p.Ile1805Thr)
|
rs749516845
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5433C>A (p.Asp1811Glu)
|
rs761154725
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5460+15G>C
|
rs1459636984
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5461-18A>G
|
rs777196411
|
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.5496A>G (p.Gln1832=)
|
rs552607031
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5500C>T (p.Arg1834Cys)
|
rs180897552
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5503C>T (p.His1835Tyr)
|
rs1783248117
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5507G>A (p.Arg1836Gln)
|
rs754715648
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5515G>A (p.Asp1839Asn)
|
rs1415716481
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5583A>C (p.Gly1861=)
|
rs763424218
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5584A>G (p.Asn1862Asp)
|
rs769076802
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5593C>T (p.Arg1865Ter)
|
rs767101212
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5594G>A (p.Arg1865Gln)
|
rs749869317
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5611C>G (p.Leu1871Val)
|
rs370425262
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5613A>G (p.Leu1871=)
|
rs546155868
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5622-4A>G
|
rs756216524
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5649T>G (p.Leu1883=)
|
rs1468575572
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5651A>G (p.His1884Arg)
|
rs748483534
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5674G>A (p.Ala1892Thr)
|
rs1339960032
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5690C>T (p.Thr1897Ile)
|
rs376904276
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5695A>G (p.Lys1899Glu)
|
rs1190944498
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5706C>T (p.Thr1902=)
|
rs1251622229
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5709C>A (p.Thr1903=)
|
rs188048701
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5715C>T (p.Asp1905=)
|
rs376858243
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5718A>G (p.Leu1906=)
|
rs575903719
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5722C>T (p.Arg1908Cys)
|
rs371497979
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5728C>G (p.Leu1910Val)
|
rs1338486972
|
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.574A>G (p.Ile192Val)
|
rs759792491
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5778+1G>A
|
rs72657333
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5779-17C>T
|
rs1040639068
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5779-6A>G
|
rs1313402081
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5790T>C (p.Asn1930=)
|
rs1228083044
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5791A>G (p.Ile1931Val)
|
rs765281163
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5796T>C (p.Tyr1932=)
|
rs1783424152
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5802A>G (p.Gly1934=)
|
rs1422901418
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5803T>C (p.Leu1935=)
|
rs767858859
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5822G>C (p.Trp1941Ser)
|
rs779535145
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5846G>A (p.Arg1949Gln)
|
rs761919869
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5859A>G (p.Glu1953=)
|
rs1186717979
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5865G>A (p.Leu1955=)
|
rs1490571205
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5915G>A (p.Arg1972Lys)
|
rs753362291
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5919G>T (p.Lys1973Asn)
|
rs1327756504
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5924+1G>C
|
rs886039340
|
0.00001
|
|
NM_001277115.2(DNAH11):c.594G>A (p.Lys198=)
|
rs762925566
|
0.00001
|
|
NM_001277115.2(DNAH11):c.595A>G (p.Met199Val)
|
rs199821847
|
0.00001
|
|
NM_001277115.2(DNAH11):c.5983A>G (p.Met1995Val)
|
rs1194710368
|
0.00001
|
|
NM_001277115.2(DNAH11):c.599A>G (p.Tyr200Cys)
|
rs1290763065
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6004C>T (p.Arg2002Ter)
|
rs373844629
|
0.00001
|
|
NM_001277115.2(DNAH11):c.600T>C (p.Tyr200=)
|
rs1489686376
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6041+10A>C
|
rs773768547
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6041+16T>C
|
rs750311859
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6041+9_6041+10insGTGGC
|
rs758190277
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6042-12T>C
|
rs764234591
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6060C>G (p.Ala2020=)
|
rs544467652
|
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.6090G>A (p.Leu2030=)
|
rs986983985
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6099T>C (p.Ala2033=)
|
rs1233404810
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6105T>C (p.Gly2035=)
|
rs532081831
|
0.00001
|
|
NM_001277115.2(DNAH11):c.610G>A (p.Gly204Ser)
|
rs774650374
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6150C>T (p.Tyr2050=)
|
rs1783928763
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6159C>T (p.Cys2053=)
|
rs568339531
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6161A>T (p.Lys2054Met)
|
rs1306063707
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6162G>A (p.Lys2054=)
|
rs1188415199
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6180+19C>T
|
rs759447830
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6180+3G>A
|
rs1418531861
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6180+6G>A
|
rs770361540
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6181-19A>C
|
rs754441155
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6185A>G (p.His2062Arg)
|
rs777405662
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6189C>T (p.Tyr2063=)
|
rs746659863
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6208A>G (p.Ile2070Val)
|
rs768571959
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6232G>A (p.Gly2078Arg)
|
rs776879195
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6247G>A (p.Gly2083Arg)
|
rs1225395855
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6258T>C (p.Asn2086=)
|
rs745398621
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6273+15A>G
|
rs184215723
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6274-12T>G
|
rs892545518
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6274-14del
|
rs1459990930
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6274-17A>G
|
rs72657341
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6281T>C (p.Met2094Thr)
|
rs1304820248
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6294G>A (p.Arg2098=)
|
rs769964282
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6297T>C (p.Asp2099=)
|
rs1225380811
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6303T>A (p.Asn2101Lys)
|
rs367634158
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6324C>T (p.Asp2108=)
|
rs750144228
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6325G>T (p.Asp2109Tyr)
|
rs760217754
|
0.00001
|
|
NM_001277115.2(DNAH11):c.632T>C (p.Leu211Pro)
|
rs1380657147
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6354T>C (p.Gly2118=)
|
rs769932199
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6355G>A (p.Asp2119Asn)
|
rs984828849
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6368C>G (p.Ala2123Gly)
|
rs1241605823
|
0.00001
|
|
NM_001277115.2(DNAH11):c.636A>G (p.Leu212=)
|
rs765936290
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6374A>G (p.Asp2125Gly)
|
rs575139970
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6376G>A (p.Val2126Met)
|
rs772530809
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6406C>T (p.Gln2136Ter)
|
rs1261633400
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6410T>C (p.Met2137Thr)
|
rs1462842214
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6414C>T (p.Val2138=)
|
rs1784193401
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6435C>T (p.Leu2145=)
|
rs577550589
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6436C>T (p.Arg2146Cys)
|
rs778936667
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6468+10G>A
|
rs372175857
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6468+12A>G
|
rs2128479156
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6468+16G>T
|
rs369034500
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6468+2T>G
|
rs1435811495
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6468+8G>C
|
rs772306989
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6468+9A>G
|
rs889582803
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6469-4G>A
|
rs1784227584
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6490T>C (p.Leu2164=)
|
rs1295684046
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6507G>A (p.Ser2169=)
|
rs777885938
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6516A>G (p.Val2172=)
|
rs757868974
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6546+12T>C
|
rs1784231651
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6546+2T>C
|
rs748950751
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6565C>T (p.Arg2189Ter)
|
rs778698443
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6570A>G (p.Thr2190=)
|
rs758187771
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6572A>G (p.Tyr2191Cys)
|
rs1345311391
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6603T>A (p.Asn2201Lys)
|
rs760775359
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6604G>A (p.Asp2202Asn)
|
rs186535951
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6611A>G (p.Asn2204Ser)
|
rs765500854
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6637C>T (p.Leu2213Phe)
|
rs1247578744
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6639C>G (p.Leu2213=)
|
rs753170391
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6650T>C (p.Ile2217Thr)
|
rs1373204477
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6653A>G (p.His2218Arg)
|
rs368955749
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6659C>G (p.Ala2220Gly)
|
rs543552204
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6683+10C>A
|
rs756840478
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6683+11C>A
|
rs529267931
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6683+18G>C
|
rs1784329446
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6684-12A>T
|
rs1784421032
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6684-5A>G
|
rs751252730
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6687T>C (p.Ile2229=)
|
rs1254552538
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6699T>C (p.Tyr2233=)
|
rs755580178
|
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.6763T>C (p.Trp2255Arg)
|
rs2534986391
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6766A>G (p.Ile2256Val)
|
rs765220793
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6770T>A (p.Val2257Asp)
|
rs752450668
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6789C>T (p.Asp2263=)
|
rs1784430399
|
0.00001
|
|
NM_001277115.2(DNAH11):c.678T>C (p.Asn226=)
|
rs749387527
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6793A>G (p.Met2265Val)
|
rs368383022
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6801T>C (p.Ile2267=)
|
rs200168142
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6810G>A (p.Leu2270=)
|
rs774852383
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6817G>A (p.Val2273Ile)
|
rs772793348
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6834+5A>G
|
rs920634147
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6835-15T>G
|
rs1784469267
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6835-7A>G
|
rs376733264
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6835G>A (p.Val2279Met)
|
rs766652102
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6842C>A (p.Thr2281Asn)
|
rs886062179
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6849C>T (p.Ala2283=)
|
rs778087045
|
0.00001
|
|
NM_001277115.2(DNAH11):c.684A>G (p.Ser228=)
|
rs886062171
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6854A>G (p.Asn2285Ser)
|
rs747384428
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6855T>C (p.Asn2285=)
|
rs1784471077
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6867A>G (p.Ala2289=)
|
rs745494770
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6868C>T (p.Leu2290Phe)
|
rs758913365
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6877T>G (p.Phe2293Val)
|
rs1378981061
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6885G>A (p.Arg2295=)
|
rs761651282
|
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.693-20T>C
|
rs1252897133
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6941C>G (p.Ala2314Gly)
|
rs372541483
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6983+1G>A
|
rs771953930
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6984-14G>A
|
rs371455271
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6986A>G (p.Tyr2329Cys)
|
rs750881107
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6992C>G (p.Ala2331Gly)
|
rs1389747018
|
0.00001
|
|
NM_001277115.2(DNAH11):c.6998G>T (p.Trp2333Leu)
|
rs1440638496
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7013G>A (p.Arg2338Gln)
|
rs757903053
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7021T>C (p.Ser2341Pro)
|
rs1784722405
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7041T>G (p.Thr2347=)
|
rs1397257346
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7052A>G (p.Asp2351Gly)
|
rs566386080
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7056A>G (p.Lys2352=)
|
rs774710286
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7059T>C (p.Tyr2353=)
|
rs762041168
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7085G>C (p.Arg2362Thr)
|
rs761114761
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7091G>A (p.Ser2364Asn)
|
rs766857730
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7104C>A (p.Ile2368=)
|
rs764940440
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7111A>G (p.Ile2371Val)
|
rs535370770
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7115C>G (p.Pro2372Arg)
|
rs1428341575
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7116T>C (p.Pro2372=)
|
rs1784725850
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7131G>T (p.Val2377=)
|
rs1386546241
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7134+15A>G
|
rs1784727130
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7135-11T>C
|
rs767412260
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7135-16A>G
|
rs1243821276
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7135-18C>T
|
rs886038472
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7143T>C (p.Cys2381=)
|
rs1420392307
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7144G>A (p.Val2382Ile)
|
rs756010097
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7180C>G (p.Pro2394Ala)
|
rs1336741273
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7184C>G (p.Ser2395Cys)
|
rs1784844777
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7206T>C (p.Tyr2402=)
|
rs1483212709
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7209A>G (p.Glu2403=)
|
rs1260213855
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7266+19T>C
|
rs1178051622
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7266+1G>A
|
rs72657354
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7266+8T>A
|
rs1486256470
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7267-6C>T
|
rs760192867
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7271C>G (p.Ser2424Cys)
|
rs765054695
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7273G>C (p.Asp2425His)
|
rs374151422
|
0.00001
|
|
NM_001277115.2(DNAH11):c.729T>A (p.Ile243=)
|
rs1271109379
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7309G>C (p.Glu2437Gln)
|
rs772992635
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7323G>A (p.Val2441=)
|
rs776477595
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7337A>G (p.Gln2446Arg)
|
rs756225547
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7340G>C (p.Gly2447Ala)
|
rs755518744
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7377G>C (p.Lys2459Asn)
|
rs1060503059
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7379A>G (p.Lys2460Arg)
|
rs770671851
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7400A>G (p.Lys2467Arg)
|
rs990447082
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7427A>G (p.Asp2476Gly)
|
rs1418164564
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7440+17T>C
|
rs969880614
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7440+9G>A
|
rs1374196124
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7443A>G (p.Thr2481=)
|
rs1007904406
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7444G>A (p.Val2482Ile)
|
rs545144577
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7456A>G (p.Thr2486Ala)
|
rs752787517
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7462G>C (p.Glu2488Gln)
|
rs757560427
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7474C>A (p.Leu2492Ile)
|
rs768581006
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7486A>G (p.Met2496Val)
|
rs776955021
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7492T>C (p.Leu2498=)
|
rs759712697
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7498C>A (p.Leu2500Ile)
|
rs1380398868
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7513C>T (p.Pro2505Ser)
|
rs373938506
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7518A>G (p.Leu2506=)
|
rs752100705
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7527A>G (p.Val2509=)
|
rs745441939
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7535C>A (p.Ala2512Glu)
|
rs779611122
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7542G>A (p.Val2514=)
|
rs754368546
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7558G>A (p.Val2520Ile)
|
rs772009922
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7559T>C (p.Val2520Ala)
|
rs777454538
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7563T>G (p.Gly2521=)
|
rs1305840591
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7588G>A (p.Asp2530Asn)
|
rs754521497
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7589A>G (p.Asp2530Gly)
|
rs778427764
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7595T>A (p.Ile2532Lys)
|
rs531303537
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7599A>G (p.Val2533=)
|
rs1310856433
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7627A>G (p.Thr2543Ala)
|
rs74546129
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7629A>G (p.Thr2543=)
|
rs766697237
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7643A>G (p.Gln2548Arg)
|
rs757926745
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7645+9A>C
|
rs777374426
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7659A>G (p.Lys2553=)
|
rs1032578518
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7660C>A (p.Pro2554Thr)
|
rs1364610167
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7677T>C (p.Ala2559=)
|
rs779051868
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7679G>C (p.Gly2560Ala)
|
rs1192456656
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7690G>A (p.Gly2564Ser)
|
rs747035323
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7696G>A (p.Gly2566Arg)
|
rs1399609437
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7725C>T (p.Ile2575=)
|
rs1203442273
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7726G>A (p.Asp2576Asn)
|
rs1282090941
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7731C>G (p.Asp2577Glu)
|
rs372436526
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7738A>T (p.Met2580Leu)
|
rs767617416
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7748T>G (p.Val2583Gly)
|
rs1410846224
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7755A>G (p.Leu2585=)
|
rs1562519227
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7764C>T (p.Thr2588=)
|
rs1417006605
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7772C>T (p.Pro2591Leu)
|
rs387907258
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7786C>T (p.Arg2596Trp)
|
rs770163877
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7795A>G (p.Ile2599Val)
|
rs749545818
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7811+11C>T
|
rs998561684
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7811+12T>A
|
rs2535096570
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7811+1G>C
|
rs1306120659
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7811+6C>T
|
rs1436992109
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7812-6T>C
|
rs1364465824
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7847A>G (p.His2616Arg)
|
rs750580632
|
0.00001
|
|
NM_001277115.2(DNAH11):c.784T>C (p.Ser262Pro)
|
rs759930423
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7861G>A (p.Val2621Ile)
|
rs1444502845
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7866C>T (p.Ala2622=)
|
rs1785784284
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7877C>T (p.Pro2626Leu)
|
rs1340754524
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7878G>A (p.Pro2626=)
|
rs748463983
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7887C>T (p.Gly2629=)
|
rs1260674153
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7896C>T (p.Thr2632=)
|
rs770327227
|
0.00001
|
|
NM_001277115.2(DNAH11):c.789G>T (p.Val263=)
|
rs1783377156
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7903C>T (p.Pro2635Ser)
|
rs572404327
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7914+18G>C
|
rs760845271
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7916G>C (p.Arg2639Thr)
|
rs763451137
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7922T>C (p.Phe2641Ser)
|
rs751907726
|
0.00001
|
|
NM_001277115.2(DNAH11):c.793C>T (p.Arg265Cys)
|
rs769397639
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7945C>T (p.Pro2649Ser)
|
rs1785919163
|
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.7989C>T (p.Ser2663=)
|
rs374678451
|
0.00001
|
|
NM_001277115.2(DNAH11):c.798G>A (p.Leu266=)
|
rs1583480795
|
0.00001
|
|
NM_001277115.2(DNAH11):c.7998C>T (p.Phe2666=)
|
rs764608320
|
0.00001
|
|
NM_001277115.2(DNAH11):c.79C>G (p.Leu27Val)
|
rs770221913
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8015C>T (p.Ala2672Val)
|
rs1339423010
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8040C>T (p.Pro2680=)
|
rs1292903570
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8055A>C (p.Ala2685=)
|
rs1264726204
|
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.8089T>C (p.Phe2697Leu)
|
rs770095517
|
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.8104A>G (p.Ile2702Val)
|
rs760332753
|
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.814T>A (p.Leu272Met)
|
rs761709401
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8154+12G>C
|
rs749390012
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8154+17A>G
|
rs375809821
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8155-16C>T
|
rs748109476
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8155-9G>T
|
rs539005820
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8169T>C (p.Ala2723=)
|
rs1209937892
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8174C>A (p.Pro2725His)
|
rs1268983209
|
0.00001
|
|
NM_001277115.2(DNAH11):c.820C>T (p.Pro274Ser)
|
rs1443828697
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8223A>G (p.Glu2741=)
|
rs371453443
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8228C>T (p.Ala2743Val)
|
rs755229531
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8231G>A (p.Arg2744His)
|
rs566881130
|
0.00001
|
|
NM_001277115.2(DNAH11):c.823C>G (p.Gln275Glu)
|
rs750255266
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8248C>T (p.Leu2750=)
|
rs372028726
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8252T>C (p.Ile2751Thr)
|
rs774996068
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8253A>G (p.Ile2751Met)
|
rs748860182
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8255A>T (p.Asp2752Val)
|
rs768309014
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8257A>C (p.Lys2753Gln)
|
rs773945722
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8286A>G (p.Arg2762=)
|
rs542718615
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8292G>T (p.Leu2764=)
|
rs570532098
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8317-10C>T
|
rs1303712444
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8319T>C (p.Gly2773=)
|
rs2535118789
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8321T>C (p.Ile2774Thr)
|
rs1200493450
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8326A>T (p.Ser2776Cys)
|
rs776416139
|
0.00001
|
|
NM_001277115.2(DNAH11):c.833T>G (p.Leu278Arg)
|
rs752866813
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8345A>T (p.Gln2782Leu)
|
rs1420930266
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8399C>T (p.Pro2800Leu)
|
rs1463832357
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8415A>G (p.Glu2805=)
|
rs1060503055
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8421G>C (p.Leu2807=)
|
rs770842569
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8426C>T (p.Thr2809Met)
|
rs781096429
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8450A>C (p.Asn2817Thr)
|
rs1315440559
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8473A>G (p.Met2825Val)
|
rs376252134
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8474T>C (p.Met2825Thr)
|
rs1227052195
|
0.00001
|
|
NM_001277115.2(DNAH11):c.847A>G (p.Met283Val)
|
rs368102189
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8482G>C (p.Val2828Leu)
|
rs1343903296
|
0.00001
|
|
NM_001277115.2(DNAH11):c.84G>A (p.Glu28=)
|
rs1243832682
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8510+10C>T
|
rs544786328
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8510+13G>A
|
rs751090383
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8510+18G>A
|
rs756000648
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8511-18G>T
|
rs1196714677
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8515C>T (p.Arg2839Cys)
|
rs770483579
|
0.00001
|
|
NM_001277115.2(DNAH11):c.851G>T (p.Arg284Met)
|
rs1210488980
|
0.00001
|
|
NM_001277115.2(DNAH11):c.852G>T (p.Arg284Ser)
|
rs770222065
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8534G>A (p.Arg2845Gln)
|
rs372633683
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8561T>C (p.Val2854Ala)
|
rs1397622591
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8570G>C (p.Gly2857Ala)
|
rs778782293
|
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.8588G>C (p.Ser2863Thr)
|
rs774841908
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8615G>A (p.Arg2872His)
|
rs374342102
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8627T>C (p.Val2876Ala)
|
rs753221223
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8627T>G (p.Val2876Gly)
|
rs753221223
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8639C>G (p.Thr2880Ser)
|
rs1786270841
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8646C>T (p.Thr2882=)
|
rs1464421155
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8654A>T (p.Tyr2885Phe)
|
rs758234780
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8658A>C (p.Gly2886=)
|
rs1482973839
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8672G>A (p.Arg2891Gln)
|
rs1317476414
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8673+16A>G
|
rs749264617
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8673+7C>G
|
rs1454338210
|
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.8715C>T (p.Asn2905=)
|
rs550026007
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8716A>G (p.Met2906Val)
|
rs1412176108
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8722A>G (p.Thr2908Ala)
|
rs764062064
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8730C>T (p.Phe2910=)
|
rs1228859779
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8734C>G (p.Leu2912Val)
|
rs1583656768
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8746C>T (p.Gln2916Ter)
|
rs797045085
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8752C>G (p.Leu2918Val)
|
rs1216328081
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8757T>C (p.Asp2919=)
|
rs754033498
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8766C>T (p.Phe2922=)
|
rs752717335
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8796A>C (p.Ser2932=)
|
rs771796985
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8797+14C>T
|
rs1183488221
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8797+17A>G
|
rs757740914
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8797+19T>G
|
rs781412878
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8798-14A>G
|
rs376881084
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8798-17C>T
|
rs780522249
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8798-18A>G
|
rs756528530
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8805C>A (p.Ile2935=)
|
rs985677182
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8806C>T (p.Pro2936Ser)
|
rs758335201
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8829T>A (p.Asp2943Glu)
|
rs886038474
|
0.00001
|
|
NM_001277115.2(DNAH11):c.883-4T>C
|
rs781560218
|
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.8920A>C (p.Arg2974=)
|
rs1786361205
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8926C>T (p.Arg2976Ter)
|
rs1298378020
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8931A>G (p.Leu2977=)
|
rs748273169
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8932C>T (p.Gln2978Ter)
|
rs772228900
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8940+10A>C
|
rs1060504814
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8940+15C>T
|
rs761280719
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8940+20T>C
|
rs2535137790
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8941-3C>T
|
rs771608078
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8941-8C>T
|
rs1787131273
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8958T>G (p.Ser2986=)
|
rs1284717783
|
0.00001
|
|
NM_001277115.2(DNAH11):c.8991G>T (p.Arg2997=)
|
rs878854448
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9023T>C (p.Ile3008Thr)
|
rs768335114
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9036T>C (p.His3012=)
|
rs747305925
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9038C>T (p.Ala3013Val)
|
rs553655709
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9054T>C (p.Ala3018=)
|
rs1365145048
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9055C>G (p.Leu3019Val)
|
rs754800615
|
0.00001
|
|
NM_001277115.2(DNAH11):c.905A>C (p.Lys302Thr)
|
rs1479197164
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9095G>A (p.Gly3032Glu)
|
rs1490098860
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9102+15C>T
|
rs747814469
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9102+7C>T
|
rs749697836
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9145C>T (p.His3049Tyr)
|
rs970422398
|
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.918C>T (p.Ile306=)
|
rs768492765
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9219T>C (p.Ser3073=)
|
rs1326485426
|
0.00001
|
|
NM_001277115.2(DNAH11):c.923C>A (p.Thr308Lys)
|
rs773991716
|
0.00001
|
|
NM_001277115.2(DNAH11):c.925A>G (p.Thr309Ala)
|
rs563007836
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9265C>T (p.Gln3089Ter)
|
rs1277063931
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9269A>G (p.Asn3090Ser)
|
rs371991581
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9273G>A (p.Glu3091=)
|
rs1200921737
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9294C>T (p.Arg3098=)
|
rs562256432
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9297G>A (p.Leu3099=)
|
rs779667366
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9301A>G (p.Asn3101Asp)
|
rs372462580
|
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.9318A>G (p.Leu3106=)
|
rs775582786
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9322A>T (p.Thr3108Ser)
|
rs1299477816
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9337-7G>T
|
rs1263777636
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9364T>C (p.Ser3122Pro)
|
rs1484104041
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9375C>T (p.Ala3125=)
|
rs762365911
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9378G>C (p.Glu3126Asp)
|
rs144201769
|
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.9392A>G (p.Asn3131Ser)
|
rs1361276482
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9396T>C (p.His3132=)
|
rs987268164
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9401C>T (p.Ala3134Val)
|
rs778246520
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9407C>T (p.Ala3136Val)
|
rs1222887514
|
0.00001
|
|
NM_001277115.2(DNAH11):c.941A>G (p.Tyr314Cys)
|
rs374176081
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9421A>G (p.Ile3141Val)
|
rs1037417688
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9424G>A (p.Gly3142Ser)
|
rs775758433
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9436G>C (p.Glu3146Gln)
|
rs762421117
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9448C>T (p.Arg3150Trp)
|
rs761102719
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9459C>T (p.Thr3153=)
|
rs1308849371
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9462C>T (p.Ile3154=)
|
rs764817397
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9477G>A (p.Glu3159=)
|
rs1230182436
|
0.00001
|
|
NM_001277115.2(DNAH11):c.947C>T (p.Pro316Leu)
|
rs1783443732
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9483+18A>G
|
rs759293214
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9484-7T>C
|
rs1788084508
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9493A>G (p.Ile3165Val)
|
rs1278430892
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9510C>T (p.Phe3170=)
|
rs758640720
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9525A>T (p.Glu3175Asp)
|
rs1562543633
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9541C>A (p.Leu3181Ile)
|
rs778057429
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9545A>T (p.Lys3182Met)
|
rs781527341
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9558A>G (p.Ala3186=)
|
rs1274712847
|
0.00001
|
|
NM_001277115.2(DNAH11):c.956A>G (p.Lys319Arg)
|
rs759321222
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9571A>G (p.Thr3191Ala)
|
rs773056889
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9584A>G (p.Asn3195Ser)
|
rs764383079
|
0.00001
|
|
NM_001277115.2(DNAH11):c.958G>A (p.Asp320Asn)
|
rs376353940
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9597+12T>G
|
rs1788091484
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9597+15T>C
|
rs1371875191
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9598-19T>C
|
rs770992531
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9600C>T (p.Val3200=)
|
rs1366257120
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9619G>A (p.Ala3207Thr)
|
rs750503068
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9629A>G (p.Asn3210Ser)
|
rs747449460
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9639C>T (p.Ile3213=)
|
rs368831125
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9648C>T (p.Thr3216=)
|
rs1583693853
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9655A>G (p.Thr3219Ala)
|
rs1166321526
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9658G>A (p.Ala3220Thr)
|
rs760839647
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9667A>G (p.Met3223Val)
|
rs775294151
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9670G>C (p.Val3224Leu)
|
rs767775390
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9686G>A (p.Arg3229Gln)
|
rs372970766
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9700A>G (p.Lys3234Glu)
|
rs377631258
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9721G>A (p.Ala3241Thr)
|
rs555878569
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9733A>G (p.Met3245Val)
|
rs1307575374
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9742-20T>C
|
rs376307851
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9745G>A (p.Asp3249Asn)
|
rs537824201
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9787A>G (p.Ile3263Val)
|
rs751955484
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9791C>T (p.Pro3264Leu)
|
rs374439635
|
0.00001
|
|
NM_001277115.2(DNAH11):c.97G>T (p.Val33Leu)
|
rs1401125804
|
0.00001
|
|
NM_001277115.2(DNAH11):c.982+18C>T
|
rs1318512047
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9831A>G (p.Lys3277=)
|
rs1788241843
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9839A>C (p.Glu3280Ala)
|
rs747943621
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9880G>C (p.Ala3294Pro)
|
rs753284739
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9894C>T (p.Ala3298=)
|
rs574242411
|
0.00001
|
|
NM_001277115.2(DNAH11):c.990C>T (p.Leu330=)
|
rs376448045
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9910A>G (p.Ile3304Val)
|
rs769891086
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9914A>C (p.Lys3305Thr)
|
rs917286409
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9915A>G (p.Lys3305=)
|
rs780243314
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9920A>G (p.Tyr3307Cys)
|
rs769334713
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9921T>C (p.Tyr3307=)
|
rs369440793
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9950G>A (p.Arg3317His)
|
rs767303269
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9979C>A (p.Leu3327Met)
|
rs888716310
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9988G>A (p.Ala3330Thr)
|
rs1327132628
|
0.00001
|
|
NM_001277115.2(DNAH11):c.9992C>T (p.Thr3331Ile)
|
rs1332671477
|
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.1108G>T (p.Asp370Tyr)
|
rs900428958
|
0.00001
|
|
NM_001364171.2(ODAD1):c.1118A>G (p.His373Arg)
|
rs780566776
|
0.00001
|
|
NM_001364171.2(ODAD1):c.1120T>G (p.Leu374Val)
|
rs772352412
|
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.1210G>A (p.Val404Met)
|
rs1453033038
|
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.1240+11A>G
|
rs1968498982
|
0.00001
|
|
NM_001364171.2(ODAD1):c.1240+17G>A
|
rs773555517
|
0.00001
|
|
NM_001364171.2(ODAD1):c.1241-18C>T
|
rs752177994
|
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.127C>T (p.Arg43Trp)
|
rs1214771019
|
0.00001
|
|
NM_001364171.2(ODAD1):c.1361G>A (p.Arg454Gln)
|
rs765660029
|
0.00001
|
|
NM_001364171.2(ODAD1):c.1380A>G (p.Thr460=)
|
rs770833619
|
0.00001
|
|
NM_001364171.2(ODAD1):c.1404+9C>T
|
rs200795319
|
0.00001
|
|
NM_001364171.2(ODAD1):c.1451G>A (p.Ser484Asn)
|
rs765137896
|
0.00001
|
|
NM_001364171.2(ODAD1):c.1462C>T (p.Leu488Phe)
|
rs1445643020
|
0.00001
|
|
NM_001364171.2(ODAD1):c.1503-2A>G
|
rs926750246
|
0.00001
|
|
NM_001364171.2(ODAD1):c.151C>T (p.Gln51Ter)
|
rs1357552630
|
0.00001
|
|
NM_001364171.2(ODAD1):c.1530C>T (p.Ser510=)
|
rs768222015
|
0.00001
|
|
NM_001364171.2(ODAD1):c.154C>T (p.Arg52Cys)
|
rs754968402
|
0.00001
|
|
NM_001364171.2(ODAD1):c.1600G>A (p.Ala534Thr)
|
rs761328296
|
0.00001
|
|
NM_001364171.2(ODAD1):c.1624C>T (p.Leu542=)
|
rs781244572
|
0.00001
|
|
NM_001364171.2(ODAD1):c.1673C>T (p.Ala558Val)
|
rs1206811360
|
0.00001
|
|
NM_001364171.2(ODAD1):c.1690G>A (p.Gly564Ser)
|
rs1449817807
|
0.00001
|
|
NM_001364171.2(ODAD1):c.170+12G>A
|
rs758047379
|
0.00001
|
|
NM_001364171.2(ODAD1):c.170+1G>A
|
rs1326332740
|
0.00001
|
|
NM_001364171.2(ODAD1):c.170+3G>C
|
rs1968966704
|
0.00001
|
|
NM_001364171.2(ODAD1):c.1701C>T (p.Thr567=)
|
rs908877525
|
0.00001
|
|
NM_001364171.2(ODAD1):c.1772G>A (p.Arg591His)
|
rs559302212
|
0.00001
|
|
NM_001364171.2(ODAD1):c.1801G>A (p.Gly601Ser)
|
rs753419095
|
0.00001
|
|
NM_001364171.2(ODAD1):c.1841C>T (p.Thr614Met)
|
rs372889077
|
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.1889C>T (p.Ala630Val)
|
rs147527014
|
0.00001
|
|
NM_001364171.2(ODAD1):c.1905C>T (p.His635=)
|
rs758832949
|
0.00001
|
|
NM_001364171.2(ODAD1):c.1932C>G (p.Ser644Arg)
|
rs773108289
|
0.00001
|
|
NM_001364171.2(ODAD1):c.1934G>C (p.Ser645Thr)
|
rs139193954
|
0.00001
|
|
NM_001364171.2(ODAD1):c.1975G>A (p.Gly659Arg)
|
rs929625985
|
0.00001
|
|
NM_001364171.2(ODAD1):c.2004dup (p.Gly669fs)
|
rs745526849
|
0.00001
|
|
NM_001364171.2(ODAD1):c.2029G>A (p.Gly677Arg)
|
rs771734792
|
0.00001
|
|
NM_001364171.2(ODAD1):c.2038G>A (p.Gly680Arg)
|
rs757626365
|
0.00001
|
|
NM_001364171.2(ODAD1):c.278T>G (p.Met93Arg)
|
rs960251356
|
0.00001
|
|
NM_001364171.2(ODAD1):c.299G>A (p.Arg100Gln)
|
rs1334678379
|
0.00001
|
|
NM_001364171.2(ODAD1):c.314C>T (p.Ala105Val)
|
rs1402875362
|
0.00001
|
|
NM_001364171.2(ODAD1):c.358C>T (p.Gln120Ter)
|
rs1179449592
|
0.00001
|
|
NM_001364171.2(ODAD1):c.361-14C>A
|
rs948256140
|
0.00001
|
|
NM_001364171.2(ODAD1):c.363C>A (p.Ile121=)
|
rs775672231
|
0.00001
|
|
NM_001364171.2(ODAD1):c.413C>T (p.Pro138Leu)
|
rs527907938
|
0.00001
|
|
NM_001364171.2(ODAD1):c.448C>T (p.Arg150Ter)
|
rs752269093
|
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.484-13T>C
|
rs1296614698
|
0.00001
|
|
NM_001364171.2(ODAD1):c.507G>C (p.Gln169His)
|
rs1469941166
|
0.00001
|
|
NM_001364171.2(ODAD1):c.515G>A (p.Arg172Gln)
|
rs369531391
|
0.00001
|
|
NM_001364171.2(ODAD1):c.521C>T (p.Ala174Val)
|
rs868114984
|
0.00001
|
|
NM_001364171.2(ODAD1):c.550C>T (p.Arg184Trp)
|
rs534421243
|
0.00001
|
|
NM_001364171.2(ODAD1):c.572T>C (p.Leu191Pro)
|
rs1968764329
|
0.00001
|
|
NM_001364171.2(ODAD1):c.598-6C>T
|
rs753828189
|
0.00001
|
|
NM_001364171.2(ODAD1):c.598-9C>A
|
rs1060504128
|
0.00001
|
|
NM_001364171.2(ODAD1):c.608A>C (p.His203Pro)
|
rs1569006344
|
0.00001
|
|
NM_001364171.2(ODAD1):c.619C>T (p.Leu207=)
|
rs536856228
|
0.00001
|
|
NM_001364171.2(ODAD1):c.657C>T (p.Tyr219=)
|
rs762832505
|
0.00001
|
|
NM_001364171.2(ODAD1):c.658G>A (p.Ala220Thr)
|
rs773209379
|
0.00001
|
|
NM_001364171.2(ODAD1):c.666-16C>T
|
rs538126564
|
0.00001
|
|
NM_001364171.2(ODAD1):c.667G>A (p.Glu223Lys)
|
rs773119584
|
0.00001
|
|
NM_001364171.2(ODAD1):c.675G>A (p.Ala225=)
|
rs1029945467
|
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.703C>T (p.Arg235Cys)
|
rs113520498
|
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.734T>C (p.Met245Thr)
|
rs760357218
|
0.00001
|
|
NM_001364171.2(ODAD1):c.741G>A (p.Ala247=)
|
rs771518813
|
0.00001
|
|
NM_001364171.2(ODAD1):c.818C>T (p.Pro273Leu)
|
rs760482173
|
0.00001
|
|
NM_001364171.2(ODAD1):c.822T>C (p.Asp274=)
|
rs767173437
|
0.00001
|
|
NM_001364171.2(ODAD1):c.844G>C (p.Glu282Gln)
|
rs866968571
|
0.00001
|
|
NM_001364171.2(ODAD1):c.853+18G>A
|
rs747107469
|
0.00001
|
|
NM_001364171.2(ODAD1):c.854-5C>T
|
rs779089686
|
0.00001
|
|
NM_001364171.2(ODAD1):c.919G>T (p.Ala307Ser)
|
rs772349661
|
0.00001
|
|
NM_001364171.2(ODAD1):c.936C>T (p.Ser312=)
|
rs769701772
|
0.00001
|
|
NM_001364171.2(ODAD1):c.940C>T (p.Leu314=)
|
rs748033597
|
0.00001
|
|
NM_001364171.2(ODAD1):c.945G>T (p.Met315Ile)
|
rs746835308
|
0.00001
|
|
NM_001364171.2(ODAD1):c.956A>G (p.Asp319Gly)
|
rs758135332
|
0.00001
|
|
NM_001364171.2(ODAD1):c.988+14T>C
|
rs1431097294
|
0.00001
|
|
NM_001364171.2(ODAD1):c.988+5G>A
|
rs1060500990
|
0.00001
|
|
NM_001364171.2(ODAD1):c.988+7G>T
|
rs756849482
|
0.00001
|
|
NM_001369.3(DNAH5):c.10021C>G (p.Leu3341Val)
|
rs751746139
|
0.00001
|
|
NM_001369.3(DNAH5):c.10044C>T (p.Pro3348=)
|
rs369902800
|
0.00001
|
|
NM_001369.3(DNAH5):c.10060T>C (p.Leu3354=)
|
rs1752467543
|
0.00001
|
|
NM_001369.3(DNAH5):c.10102-4del
|
rs1751979908
|
0.00001
|
|
NM_001369.3(DNAH5):c.10102-9C>T
|
rs762531071
|
0.00001
|
|
NM_001369.3(DNAH5):c.10134G>C (p.Val3378=)
|
rs761451180
|
0.00001
|
|
NM_001369.3(DNAH5):c.10138G>T (p.Glu3380Ter)
|
rs1751975175
|
0.00001
|
|
NM_001369.3(DNAH5):c.1014T>G (p.Thr338=)
|
rs749523614
|
0.00001
|
|
NM_001369.3(DNAH5):c.10179C>T (p.Ile3393=)
|
rs768597241
|
0.00001
|
|
NM_001369.3(DNAH5):c.10182A>G (p.Glu3394=)
|
rs1751971126
|
0.00001
|
|
NM_001369.3(DNAH5):c.10185T>C (p.Thr3395=)
|
rs1169202727
|
0.00001
|
|
NM_001369.3(DNAH5):c.10186G>A (p.Ala3396Thr)
|
rs1751970470
|
0.00001
|
|
NM_001369.3(DNAH5):c.10196T>C (p.Val3399Ala)
|
rs1398835710
|
0.00001
|
|
NM_001369.3(DNAH5):c.10203A>G (p.Gly3401=)
|
rs1412657006
|
0.00001
|
|
NM_001369.3(DNAH5):c.10226G>C (p.Trp3409Ser)
|
rs755407407
|
0.00001
|
|
NM_001369.3(DNAH5):c.10260C>T (p.Asn3420=)
|
rs771824980
|
0.00001
|
|
NM_001369.3(DNAH5):c.10262A>G (p.Lys3421Arg)
|
rs1751957147
|
0.00001
|
|
NM_001369.3(DNAH5):c.10282-13G>A
|
rs1259354183
|
0.00001
|
|
NM_001369.3(DNAH5):c.10282-14T>C
|
rs763573190
|
0.00001
|
|
NM_001369.3(DNAH5):c.10282-19C>G
|
rs1194222891
|
0.00001
|
|
NM_001369.3(DNAH5):c.10282-7T>C
|
rs1751412635
|
0.00001
|
|
NM_001369.3(DNAH5):c.1028A>G (p.Asp343Gly)
|
rs778204627
|
0.00001
|
|
NM_001369.3(DNAH5):c.10293G>T (p.Val3431=)
|
rs1224680596
|
0.00001
|
|
NM_001369.3(DNAH5):c.10302G>T (p.Glu3434Asp)
|
rs759185141
|
0.00001
|
|
NM_001369.3(DNAH5):c.1030A>C (p.Asn344His)
|
rs769979999
|
0.00001
|
|
NM_001369.3(DNAH5):c.10314C>T (p.Leu3438=)
|
rs886376710
|
0.00001
|
|
NM_001369.3(DNAH5):c.10374T>C (p.Leu3458=)
|
rs768186812
|
0.00001
|
|
NM_001369.3(DNAH5):c.10377del (p.Asp3459fs)
|
rs2126727754
|
0.00001
|
|
NM_001369.3(DNAH5):c.10383G>A (p.Val3461=)
|
rs1751389672
|
0.00001
|
|
NM_001369.3(DNAH5):c.10401G>A (p.Gln3467=)
|
rs373968571
|
0.00001
|
|
NM_001369.3(DNAH5):c.10415A>G (p.Lys3472Arg)
|
rs1057517890
|
0.00001
|
|
NM_001369.3(DNAH5):c.10419+20G>A
|
rs754483154
|
0.00001
|
|
NM_001369.3(DNAH5):c.10419+8C>T
|
rs780730089
|
0.00001
|
|
NM_001369.3(DNAH5):c.10420-10C>A
|
rs1335309244
|
0.00001
|
|
NM_001369.3(DNAH5):c.10420-13T>C
|
rs747801456
|
0.00001
|
|
NM_001369.3(DNAH5):c.10420-18G>A
|
rs771330498
|
0.00001
|
|
NM_001369.3(DNAH5):c.10441C>T (p.Arg3481Ter)
|
rs886039500
|
0.00001
|
|
NM_001369.3(DNAH5):c.10458G>A (p.Met3486Ile)
|
rs376253368
|
0.00001
|
|
NM_001369.3(DNAH5):c.10527G>A (p.Glu3509=)
|
rs373514903
|
0.00001
|
|
NM_001369.3(DNAH5):c.1054G>T (p.Glu352Ter)
|
rs189080233
|
0.00001
|
|
NM_001369.3(DNAH5):c.10556-15T>C
|
rs754992743
|
0.00001
|
|
NM_001369.3(DNAH5):c.10556-17T>A
|
rs1304664006
|
0.00001
|
|
NM_001369.3(DNAH5):c.10556-7A>G
|
rs1020511618
|
0.00001
|
|
NM_001369.3(DNAH5):c.10611G>A (p.Glu3537=)
|
rs773264493
|
0.00001
|
|
NM_001369.3(DNAH5):c.10644G>A (p.Lys3548=)
|
rs2126701753
|
0.00001
|
|
NM_001369.3(DNAH5):c.10656C>T (p.Ala3552=)
|
rs757642030
|
0.00001
|
|
NM_001369.3(DNAH5):c.10668A>C (p.Pro3556=)
|
rs1750537080
|
0.00001
|
|
NM_001369.3(DNAH5):c.1074G>A (p.Leu358=)
|
rs1176863097
|
0.00001
|
|
NM_001369.3(DNAH5):c.10782C>T (p.Val3594=)
|
rs2126700829
|
0.00001
|
|
NM_001369.3(DNAH5):c.10807T>C (p.Leu3603=)
|
rs1456644893
|
0.00001
|
|
NM_001369.3(DNAH5):c.10825C>T (p.Gln3609Ter)
|
rs749980719
|
0.00001
|
|
NM_001369.3(DNAH5):c.10833G>A (p.Lys3611=)
|
rs1466415649
|
0.00001
|
|
NM_001369.3(DNAH5):c.10836C>T (p.Ile3612=)
|
rs1750509024
|
0.00001
|
|
NM_001369.3(DNAH5):c.10852G>A (p.Glu3618Lys)
|
rs201307192
|
0.00001
|
|
NM_001369.3(DNAH5):c.10872+16G>C
|
rs560686847
|
0.00001
|
|
NM_001369.3(DNAH5):c.10872+17T>C
|
rs897880425
|
0.00001
|
|
NM_001369.3(DNAH5):c.10873-16G>A
|
rs1330383377
|
0.00001
|
|
NM_001369.3(DNAH5):c.10877C>T (p.Thr3626Met)
|
rs376067762
|
0.00001
|
|
NM_001369.3(DNAH5):c.10878G>A (p.Thr3626=)
|
rs188428209
|
0.00001
|
|
NM_001369.3(DNAH5):c.1089+19C>T
|
rs1368593049
|
0.00001
|
|
NM_001369.3(DNAH5):c.10890C>G (p.His3630Gln)
|
rs771119277
|
0.00001
|
|
NM_001369.3(DNAH5):c.10893G>A (p.Lys3631=)
|
rs749388508
|
0.00001
|
|
NM_001369.3(DNAH5):c.1090-16T>G
|
rs758750925
|
0.00001
|
|
NM_001369.3(DNAH5):c.1090-17T>C
|
rs943419571
|
0.00001
|
|
NM_001369.3(DNAH5):c.1090-9A>C
|
rs531634191
|
0.00001
|
|
NM_001369.3(DNAH5):c.10909C>T (p.Leu3637=)
|
rs748412220
|
0.00001
|
|
NM_001369.3(DNAH5):c.10910del (p.Leu3637fs)
|
rs769691189
|
0.00001
|
|
NM_001369.3(DNAH5):c.10926T>C (p.Ser3642=)
|
rs778597325
|
0.00001
|
|
NM_001369.3(DNAH5):c.10937C>A (p.Pro3646His)
|
rs1013623560
|
0.00001
|
|
NM_001369.3(DNAH5):c.10950A>G (p.Glu3650=)
|
rs1750335994
|
0.00001
|
|
NM_001369.3(DNAH5):c.10953T>C (p.Asp3651=)
|
rs1361071108
|
0.00001
|
|
NM_001369.3(DNAH5):c.10962G>A (p.Glu3654=)
|
rs1162082114
|
0.00001
|
|
NM_001369.3(DNAH5):c.10986T>C (p.Asn3662=)
|
rs1238800897
|
0.00001
|
|
NM_001369.3(DNAH5):c.10992G>A (p.Leu3664=)
|
rs766709160
|
0.00001
|
|
NM_001369.3(DNAH5):c.11028+13T>G
|
rs1750320282
|
0.00001
|
|
NM_001369.3(DNAH5):c.11028+14A>G
|
rs748656365
|
0.00001
|
|
NM_001369.3(DNAH5):c.11029-14T>C
|
rs766659745
|
0.00001
|
|
NM_001369.3(DNAH5):c.11029-2A>T
|
rs369312501
|
0.00001
|
|
NM_001369.3(DNAH5):c.11029-6A>T
|
rs773606612
|
0.00001
|
|
NM_001369.3(DNAH5):c.11038G>T (p.Gly3680Cys)
|
rs777140914
|
0.00001
|
|
NM_001369.3(DNAH5):c.11056G>A (p.Val3686Met)
|
rs747335816
|
0.00001
|
|
NM_001369.3(DNAH5):c.11072G>C (p.Arg3691Thr)
|
rs777472272
|
0.00001
|
|
NM_001369.3(DNAH5):c.11087C>T (p.Thr3696Ile)
|
rs1247178605
|
0.00001
|
|
NM_001369.3(DNAH5):c.11109C>T (p.Tyr3703=)
|
rs2126689531
|
0.00001
|
|
NM_001369.3(DNAH5):c.11128C>T (p.Arg3710Cys)
|
rs750661309
|
0.00001
|
|
NM_001369.3(DNAH5):c.11136C>T (p.Ser3712=)
|
rs1170163108
|
0.00001
|
|
NM_001369.3(DNAH5):c.11149A>G (p.Thr3717Ala)
|
rs764616457
|
0.00001
|
|
NM_001369.3(DNAH5):c.11154C>T (p.Val3718=)
|
rs761150551
|
0.00001
|
|
NM_001369.3(DNAH5):c.11157C>T (p.Thr3719=)
|
rs1276440400
|
0.00001
|
|
NM_001369.3(DNAH5):c.1116A>G (p.Thr372=)
|
rs1424198509
|
0.00001
|
|
NM_001369.3(DNAH5):c.11190G>A (p.Arg3730=)
|
rs772425564
|
0.00001
|
|
NM_001369.3(DNAH5):c.11211+17T>A
|
rs772849938
|
0.00001
|
|
NM_001369.3(DNAH5):c.11212-20A>G
|
rs760815224
|
0.00001
|
|
NM_001369.3(DNAH5):c.1122A>T (p.Ile374=)
|
rs1776649593
|
0.00001
|
|
NM_001369.3(DNAH5):c.11237T>C (p.Leu3746Pro)
|
rs373741309
|
0.00001
|
|
NM_001369.3(DNAH5):c.11245G>T (p.Asp3749Tyr)
|
rs1422224167
|
0.00001
|
|
NM_001369.3(DNAH5):c.11247T>C (p.Asp3749=)
|
rs549116271
|
0.00001
|
|
NM_001369.3(DNAH5):c.11248G>A (p.Val3750Ile)
|
rs1209708350
|
0.00001
|
|
NM_001369.3(DNAH5):c.11253T>C (p.Thr3751=)
|
rs1486092540
|
0.00001
|
|
NM_001369.3(DNAH5):c.11271G>A (p.Met3757Ile)
|
rs775501934
|
0.00001
|
|
NM_001369.3(DNAH5):c.11286T>C (p.Asp3762=)
|
rs753644166
|
0.00001
|
|
NM_001369.3(DNAH5):c.11298C>T (p.Tyr3766=)
|
rs757118886
|
0.00001
|
|
NM_001369.3(DNAH5):c.11301C>T (p.Arg3767=)
|
rs1482669571
|
0.00001
|
|
NM_001369.3(DNAH5):c.11316G>A (p.Gln3772=)
|
rs763936826
|
0.00001
|
|
NM_001369.3(DNAH5):c.11323C>T (p.Leu3775=)
|
rs1246573323
|
0.00001
|
|
NM_001369.3(DNAH5):c.11326G>A (p.Val3776Ile)
|
rs559545340
|
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.11364A>G (p.Thr3788=)
|
rs756347790
|
0.00001
|
|
NM_001369.3(DNAH5):c.11377G>A (p.Glu3793Lys)
|
rs751996726
|
0.00001
|
|
NM_001369.3(DNAH5):c.11385G>A (p.Val3795=)
|
rs921373580
|
0.00001
|
|
NM_001369.3(DNAH5):c.11386A>T (p.Thr3796Ser)
|
rs766922927
|
0.00001
|
|
NM_001369.3(DNAH5):c.11395C>T (p.Leu3799=)
|
rs1478663527
|
0.00001
|
|
NM_001369.3(DNAH5):c.11397A>G (p.Leu3799=)
|
rs758625306
|
0.00001
|
|
NM_001369.3(DNAH5):c.113A>G (p.Asn38Ser)
|
rs1163468590
|
0.00001
|
|
NM_001369.3(DNAH5):c.11414C>A (p.Thr3805Lys)
|
rs1554027892
|
0.00001
|
|
NM_001369.3(DNAH5):c.11418A>C (p.Glu3806Asp)
|
rs1489672721
|
0.00001
|
|
NM_001369.3(DNAH5):c.11419G>C (p.Val3807Leu)
|
rs576127819
|
0.00001
|
|
NM_001369.3(DNAH5):c.11456-20C>A
|
rs1361265949
|
0.00001
|
|
NM_001369.3(DNAH5):c.1146T>C (p.Ser382=)
|
rs747174844
|
0.00001
|
|
NM_001369.3(DNAH5):c.1148T>G (p.Ile383Ser)
|
rs775957939
|
0.00001
|
|
NM_001369.3(DNAH5):c.1149C>A (p.Ile383=)
|
rs780992579
|
0.00001
|
|
NM_001369.3(DNAH5):c.11506G>T (p.Val3836Phe)
|
rs201068342
|
0.00001
|
|
NM_001369.3(DNAH5):c.11519A>G (p.Tyr3840Cys)
|
rs761555252
|
0.00001
|
|
NM_001369.3(DNAH5):c.11529G>A (p.Ser3843=)
|
rs1024441903
|
0.00001
|
|
NM_001369.3(DNAH5):c.11534G>A (p.Arg3845His)
|
rs1181350575
|
0.00001
|
|
NM_001369.3(DNAH5):c.11556C>T (p.Asp3852=)
|
rs745961446
|
0.00001
|
|
NM_001369.3(DNAH5):c.11570+14C>T
|
rs757835503
|
0.00001
|
|
NM_001369.3(DNAH5):c.11570+9G>C
|
rs1206430080
|
0.00001
|
|
NM_001369.3(DNAH5):c.11571-20T>G
|
rs1370748348
|
0.00001
|
|
NM_001369.3(DNAH5):c.11571-6C>T
|
rs1179208296
|
0.00001
|
|
NM_001369.3(DNAH5):c.11574T>C (p.Ser3858=)
|
rs188088000
|
0.00001
|
|
NM_001369.3(DNAH5):c.11585C>T (p.Pro3862Leu)
|
rs763954304
|
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.11615T>C (p.Ile3872Thr)
|
rs751894003
|
0.00001
|
|
NM_001369.3(DNAH5):c.11619G>A (p.Glu3873=)
|
rs1389316634
|
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.11632G>A (p.Glu3878Lys)
|
rs202140771
|
0.00001
|
|
NM_001369.3(DNAH5):c.1165A>G (p.Thr389Ala)
|
rs1305527957
|
0.00001
|
|
NM_001369.3(DNAH5):c.11664C>T (p.Tyr3888=)
|
rs754874486
|
0.00001
|
|
NM_001369.3(DNAH5):c.1167C>T (p.Thr389=)
|
rs747749204
|
0.00001
|
|
NM_001369.3(DNAH5):c.11686A>G (p.Thr3896Ala)
|
rs750490042
|
0.00001
|
|
NM_001369.3(DNAH5):c.11687C>T (p.Thr3896Ile)
|
rs367792636
|
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.1171G>A (p.Glu391Lys)
|
rs1776643297
|
0.00001
|
|
NM_001369.3(DNAH5):c.11755A>T (p.Ile3919Phe)
|
rs1268213717
|
0.00001
|
|
NM_001369.3(DNAH5):c.11762-18T>C
|
rs779198542
|
0.00001
|
|
NM_001369.3(DNAH5):c.11765G>A (p.Gly3922Asp)
|
rs753933706
|
0.00001
|
|
NM_001369.3(DNAH5):c.11785G>A (p.Ala3929Thr)
|
rs1167911121
|
0.00001
|
|
NM_001369.3(DNAH5):c.11794C>A (p.Pro3932Thr)
|
rs1746210228
|
0.00001
|
|
NM_001369.3(DNAH5):c.11831T>C (p.Leu3944Pro)
|
rs560077599
|
0.00001
|
|
NM_001369.3(DNAH5):c.11869G>A (p.Asp3957Asn)
|
rs749548708
|
0.00001
|
|
NM_001369.3(DNAH5):c.11883G>A (p.Gln3961=)
|
rs1470925950
|
0.00001
|
|
NM_001369.3(DNAH5):c.11884-15C>T
|
rs777979824
|
0.00001
|
|
NM_001369.3(DNAH5):c.11884-16C>A
|
rs1745937295
|
0.00001
|
|
NM_001369.3(DNAH5):c.11932C>T (p.Pro3978Ser)
|
rs1283903903
|
0.00001
|
|
NM_001369.3(DNAH5):c.11946T>G (p.Pro3982=)
|
rs1329958607
|
0.00001
|
|
NM_001369.3(DNAH5):c.11957C>T (p.Ala3986Val)
|
rs773377050
|
0.00001
|
|
NM_001369.3(DNAH5):c.1197+13del
|
rs2547134883
|
0.00001
|
|
NM_001369.3(DNAH5):c.1197+18A>C
|
rs758433185
|
0.00001
|
|
NM_001369.3(DNAH5):c.1197+20T>C
|
rs1776638708
|
0.00001
|
|
NM_001369.3(DNAH5):c.1198-14T>C
|
rs376742406
|
0.00001
|
|
NM_001369.3(DNAH5):c.1198-16T>C
|
rs779724515
|
0.00001
|
|
NM_001369.3(DNAH5):c.11997T>C (p.Leu3999=)
|
rs939150721
|
0.00001
|
|
NM_001369.3(DNAH5):c.11T>C (p.Ile4Thr)
|
rs765239163
|
0.00001
|
|
NM_001369.3(DNAH5):c.12009G>A (p.Trp4003Ter)
|
rs2126564103
|
0.00001
|
|
NM_001369.3(DNAH5):c.12033+12A>G
|
rs370101876
|
0.00001
|
|
NM_001369.3(DNAH5):c.12033+20G>A
|
rs751444755
|
0.00001
|
|
NM_001369.3(DNAH5):c.12033+4A>G
|
rs746256175
|
0.00001
|
|
NM_001369.3(DNAH5):c.12034-14A>G
|
rs779396205
|
0.00001
|
|
NM_001369.3(DNAH5):c.12034-19T>C
|
rs1299623462
|
0.00001
|
|
NM_001369.3(DNAH5):c.12034-6T>C
|
rs369614763
|
0.00001
|
|
NM_001369.3(DNAH5):c.12034G>C (p.Ala4012Pro)
|
rs747828322
|
0.00001
|
|
NM_001369.3(DNAH5):c.12038G>A (p.Arg4013His)
|
rs1312294784
|
0.00001
|
|
NM_001369.3(DNAH5):c.12050T>G (p.Val4017Gly)
|
rs1212780156
|
0.00001
|
|
NM_001369.3(DNAH5):c.12107G>A (p.Trp4036Ter)
|
rs760104757
|
0.00001
|
|
NM_001369.3(DNAH5):c.12109G>C (p.Glu4037Gln)
|
rs775060022
|
0.00001
|
|
NM_001369.3(DNAH5):c.12111G>A (p.Glu4037=)
|
rs771256143
|
0.00001
|
|
NM_001369.3(DNAH5):c.12114A>T (p.Glu4038Asp)
|
rs749640233
|
0.00001
|
|
NM_001369.3(DNAH5):c.12124C>T (p.Arg4042Trp)
|
rs768164911
|
0.00001
|
|
NM_001369.3(DNAH5):c.12128C>T (p.Thr4043Met)
|
rs529288295
|
0.00001
|
|
NM_001369.3(DNAH5):c.12157T>C (p.Ser4053Pro)
|
rs140496584
|
0.00001
|
|
NM_001369.3(DNAH5):c.1217C>A (p.Ser406Tyr)
|
rs1367562575
|
0.00001
|
|
NM_001369.3(DNAH5):c.121T>C (p.Phe41Leu)
|
rs149569720
|
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.12258C>G (p.Leu4086=)
|
rs746003819
|
0.00001
|
|
NM_001369.3(DNAH5):c.12262C>A (p.Gln4088Lys)
|
rs1245106080
|
0.00001
|
|
NM_001369.3(DNAH5):c.12264G>T (p.Gln4088His)
|
rs199672743
|
0.00001
|
|
NM_001369.3(DNAH5):c.12265C>T (p.Gln4089Ter)
|
rs1060501456
|
0.00001
|
|
NM_001369.3(DNAH5):c.12275C>T (p.Ala4092Val)
|
rs1025759175
|
0.00001
|
|
NM_001369.3(DNAH5):c.12279+1G>A
|
rs765520656
|
0.00001
|
|
NM_001369.3(DNAH5):c.12279+9G>T
|
rs1579905639
|
0.00001
|
|
NM_001369.3(DNAH5):c.12280-18G>A
|
rs776949405
|
0.00001
|
|
NM_001369.3(DNAH5):c.12280-4A>T
|
rs1561106680
|
0.00001
|
|
NM_001369.3(DNAH5):c.12285A>T (p.Gly4095=)
|
rs774115728
|
0.00001
|
|
NM_001369.3(DNAH5):c.12323T>C (p.Phe4108Ser)
|
rs1445252642
|
0.00001
|
|
NM_001369.3(DNAH5):c.12325A>G (p.Met4109Val)
|
rs1358068882
|
0.00001
|
|
NM_001369.3(DNAH5):c.12368A>G (p.His4123Arg)
|
rs1218242577
|
0.00001
|
|
NM_001369.3(DNAH5):c.12396C>T (p.Thr4132=)
|
rs776715085
|
0.00001
|
|
NM_001369.3(DNAH5):c.12397G>A (p.Glu4133Lys)
|
rs376372961
|
0.00001
|
|
NM_001369.3(DNAH5):c.123T>C (p.Phe41=)
|
rs1361525513
|
0.00001
|
|
NM_001369.3(DNAH5):c.12404A>G (p.His4135Arg)
|
rs1744680585
|
0.00001
|
|
NM_001369.3(DNAH5):c.12420T>C (p.Ile4140=)
|
rs778262244
|
0.00001
|
|
NM_001369.3(DNAH5):c.12423A>G (p.Thr4141=)
|
rs756382401
|
0.00001
|
|
NM_001369.3(DNAH5):c.12426C>T (p.Leu4142=)
|
rs543738890
|
0.00001
|
|
NM_001369.3(DNAH5):c.12437C>T (p.Ser4146Phe)
|
rs750170721
|
0.00001
|
|
NM_001369.3(DNAH5):c.12453C>T (p.Asn4151=)
|
rs764777394
|
0.00001
|
|
NM_001369.3(DNAH5):c.12454G>A (p.Asp4152Asn)
|
rs761422282
|
0.00001
|
|
NM_001369.3(DNAH5):c.1246G>A (p.Gly416Arg)
|
rs773648190
|
0.00001
|
|
NM_001369.3(DNAH5):c.12499+16C>T
|
rs1386067165
|
0.00001
|
|
NM_001369.3(DNAH5):c.12500-14A>G
|
rs2126510171
|
0.00001
|
|
NM_001369.3(DNAH5):c.12500-19A>G
|
rs372037071
|
0.00001
|
|
NM_001369.3(DNAH5):c.12500-9C>T
|
rs1744470683
|
0.00001
|
|
NM_001369.3(DNAH5):c.12502G>A (p.Val4168Ile)
|
rs747409181
|
0.00001
|
|
NM_001369.3(DNAH5):c.12516G>T (p.Leu4172=)
|
rs747309196
|
0.00001
|
|
NM_001369.3(DNAH5):c.12561A>T (p.Ala4187=)
|
rs763160068
|
0.00001
|
|
NM_001369.3(DNAH5):c.12574C>A (p.His4192Asn)
|
rs748199626
|
0.00001
|
|
NM_001369.3(DNAH5):c.12596G>A (p.Arg4199His)
|
rs375694023
|
0.00001
|
|
NM_001369.3(DNAH5):c.12603C>T (p.Phe4201=)
|
rs758897089
|
0.00001
|
|
NM_001369.3(DNAH5):c.12608C>T (p.Ala4203Val)
|
rs777303722
|
0.00001
|
|
NM_001369.3(DNAH5):c.12615G>A (p.Gly4205=)
|
rs755597752
|
0.00001
|
|
NM_001369.3(DNAH5):c.12630C>T (p.Tyr4210=)
|
rs766099303
|
0.00001
|
|
NM_001369.3(DNAH5):c.12631G>A (p.Glu4211Lys)
|
rs762673561
|
0.00001
|
|
NM_001369.3(DNAH5):c.12645G>A (p.Ala4215=)
|
rs776552880
|
0.00001
|
|
NM_001369.3(DNAH5):c.12682T>C (p.Leu4228=)
|
rs772505955
|
0.00001
|
|
NM_001369.3(DNAH5):c.12705+13A>C
|
rs754177491
|
0.00001
|
|
NM_001369.3(DNAH5):c.12705+8C>T
|
rs897423035
|
0.00001
|
|
NM_001369.3(DNAH5):c.12705+9G>A
|
rs990507266
|
0.00001
|
|
NM_001369.3(DNAH5):c.12706-16C>T
|
rs1445485812
|
0.00001
|
|
NM_001369.3(DNAH5):c.12771C>T (p.Asp4257=)
|
rs200349959
|
0.00001
|
|
NM_001369.3(DNAH5):c.12772G>A (p.Asp4258Asn)
|
rs1354484933
|
0.00001
|
|
NM_001369.3(DNAH5):c.12777T>C (p.Tyr4259=)
|
rs1358314506
|
0.00001
|
|
NM_001369.3(DNAH5):c.12798A>G (p.Thr4266=)
|
rs756952171
|
0.00001
|
|
NM_001369.3(DNAH5):c.12837A>G (p.Pro4279=)
|
rs1472495875
|
0.00001
|
|
NM_001369.3(DNAH5):c.12839A>T (p.Asp4280Val)
|
rs777745845
|
0.00001
|
|
NM_001369.3(DNAH5):c.12861C>T (p.Tyr4287=)
|
rs1389988921
|
0.00001
|
|
NM_001369.3(DNAH5):c.12879C>T (p.Ser4293=)
|
rs773544560
|
0.00001
|
|
NM_001369.3(DNAH5):c.12880A>G (p.Thr4294Ala)
|
rs765649176
|
0.00001
|
|
NM_001369.3(DNAH5):c.12883G>A (p.Val4295Met)
|
rs76958987
|
0.00001
|
|
NM_001369.3(DNAH5):c.12900G>A (p.Gln4300=)
|
rs1313735230
|
0.00001
|
|
NM_001369.3(DNAH5):c.12906C>G (p.Ile4302Met)
|
rs113914833
|
0.00001
|
|
NM_001369.3(DNAH5):c.12910-14T>C
|
rs752241896
|
0.00001
|
|
NM_001369.3(DNAH5):c.12924T>C (p.Tyr4308=)
|
rs762978621
|
0.00001
|
|
NM_001369.3(DNAH5):c.12937G>C (p.Val4313Leu)
|
rs769666008
|
0.00001
|
|
NM_001369.3(DNAH5):c.12958G>A (p.Ala4320Thr)
|
rs377316131
|
0.00001
|
|
NM_001369.3(DNAH5):c.12975G>C (p.Gln4325His)
|
rs780181944
|
0.00001
|
|
NM_001369.3(DNAH5):c.12984G>A (p.Leu4328=)
|
rs1236779417
|
0.00001
|
|
NM_001369.3(DNAH5):c.12987C>T (p.Ala4329=)
|
rs1343345260
|
0.00001
|
|
NM_001369.3(DNAH5):c.12993C>T (p.Asp4331=)
|
rs750130912
|
0.00001
|
|
NM_001369.3(DNAH5):c.1299A>C (p.Leu433=)
|
rs767772562
|
0.00001
|
|
NM_001369.3(DNAH5):c.13002C>T (p.Asp4334=)
|
rs1264529843
|
0.00001
|
|
NM_001369.3(DNAH5):c.13015A>C (p.Ile4339Leu)
|
rs560535018
|
0.00001
|
|
NM_001369.3(DNAH5):c.13018C>T (p.Gln4340Ter)
|
rs548721070
|
0.00001
|
|
NM_001369.3(DNAH5):c.13023C>G (p.Pro4341=)
|
rs762564245
|
0.00001
|
|
NM_001369.3(DNAH5):c.13044G>A (p.Gly4348=)
|
rs1744024775
|
0.00001
|
|
NM_001369.3(DNAH5):c.13054C>T (p.Arg4352Trp)
|
rs530188302
|
0.00001
|
|
NM_001369.3(DNAH5):c.13055G>A (p.Arg4352Gln)
|
rs376585054
|
0.00001
|
|
NM_001369.3(DNAH5):c.1305G>A (p.Ala435=)
|
rs766746657
|
0.00001
|
|
NM_001369.3(DNAH5):c.13060G>T (p.Ala4354Ser)
|
rs1157407573
|
0.00001
|
|
NM_001369.3(DNAH5):c.13077G>A (p.Leu4359=)
|
rs148805204
|
0.00001
|
|
NM_001369.3(DNAH5):c.13083T>C (p.Asp4361=)
|
rs1188424092
|
0.00001
|
|
NM_001369.3(DNAH5):c.13089G>T (p.Met4363Ile)
|
rs1265935718
|
0.00001
|
|
NM_001369.3(DNAH5):c.13112A>G (p.Tyr4371Cys)
|
rs886142477
|
0.00001
|
|
NM_001369.3(DNAH5):c.13113T>C (p.Tyr4371=)
|
rs539810401
|
0.00001
|
|
NM_001369.3(DNAH5):c.13125+11G>A
|
rs772248285
|
0.00001
|
|
NM_001369.3(DNAH5):c.13126-13G>A
|
rs1402096471
|
0.00001
|
|
NM_001369.3(DNAH5):c.13140G>T (p.Leu4380=)
|
rs890199061
|
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.1320+16G>A
|
rs1266300524
|
0.00001
|
|
NM_001369.3(DNAH5):c.1320+9C>T
|
rs1350013656
|
0.00001
|
|
NM_001369.3(DNAH5):c.1321-10T>C
|
rs1445627912
|
0.00001
|
|
NM_001369.3(DNAH5):c.1321-4T>G
|
rs1042276563
|
0.00001
|
|
NM_001369.3(DNAH5):c.13215C>T (p.Ser4405=)
|
rs1406880003
|
0.00001
|
|
NM_001369.3(DNAH5):c.13223G>A (p.Arg4408His)
|
rs202034094
|
0.00001
|
|
NM_001369.3(DNAH5):c.13227C>A (p.Ser4409Arg)
|
rs139357559
|
0.00001
|
|
NM_001369.3(DNAH5):c.13263C>T (p.Thr4421=)
|
rs765849507
|
0.00001
|
|
NM_001369.3(DNAH5):c.13265T>C (p.Ile4422Thr)
|
rs763286954
|
0.00001
|
|
NM_001369.3(DNAH5):c.13266C>G (p.Ile4422Met)
|
rs1561084758
|
0.00001
|
|
NM_001369.3(DNAH5):c.13285C>T (p.Arg4429Ter)
|
rs1743041017
|
0.00001
|
|
NM_001369.3(DNAH5):c.13338+1G>C
|
rs1219958424
|
0.00001
|
|
NM_001369.3(DNAH5):c.13338+5G>A
|
rs374718437
|
0.00001
|
|
NM_001369.3(DNAH5):c.13339-8C>A
|
rs1326641469
|
0.00001
|
|
NM_001369.3(DNAH5):c.13358C>T (p.Thr4453Ile)
|
rs780719985
|
0.00001
|
|
NM_001369.3(DNAH5):c.13385T>C (p.Ile4462Thr)
|
rs750565633
|
0.00001
|
|
NM_001369.3(DNAH5):c.13404T>C (p.Phe4468=)
|
rs891146458
|
0.00001
|
|
NM_001369.3(DNAH5):c.13412G>T (p.Trp4471Leu)
|
rs761077963
|
0.00001
|
|
NM_001369.3(DNAH5):c.13416T>G (p.Val4472=)
|
rs1350299720
|
0.00001
|
|
NM_001369.3(DNAH5):c.13426C>T (p.Arg4476Ter)
|
rs767716511
|
0.00001
|
|
NM_001369.3(DNAH5):c.13444A>T (p.Met4482Leu)
|
rs769404516
|
0.00001
|
|
NM_001369.3(DNAH5):c.13452T>A (p.Gly4484=)
|
rs758092290
|
0.00001
|
|
NM_001369.3(DNAH5):c.13481C>A (p.Ala4494Glu)
|
rs756228394
|
0.00001
|
|
NM_001369.3(DNAH5):c.13491+15T>C
|
rs201570017
|
0.00001
|
|
NM_001369.3(DNAH5):c.13492-9C>T
|
rs777751557
|
0.00001
|
|
NM_001369.3(DNAH5):c.13503G>A (p.Arg4501=)
|
rs1294086240
|
0.00001
|
|
NM_001369.3(DNAH5):c.13508A>G (p.Asn4503Ser)
|
rs1382115617
|
0.00001
|
|
NM_001369.3(DNAH5):c.13519G>C (p.Ala4507Pro)
|
rs936214274
|
0.00001
|
|
NM_001369.3(DNAH5):c.13530T>C (p.Asn4510=)
|
rs563536491
|
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.13596T>A (p.Gly4532=)
|
rs763033794
|
0.00001
|
|
NM_001369.3(DNAH5):c.13611C>G (p.Gly4537=)
|
rs1306261256
|
0.00001
|
|
NM_001369.3(DNAH5):c.13625G>C (p.Gly4542Ala)
|
rs1235308872
|
0.00001
|
|
NM_001369.3(DNAH5):c.13626T>A (p.Gly4542=)
|
rs1239513732
|
0.00001
|
|
NM_001369.3(DNAH5):c.13626_13627insAAAA (p.Ala4543fs)
|
rs1741984828
|
0.00001
|
|
NM_001369.3(DNAH5):c.13632C>T (p.Gly4544=)
|
rs780159177
|
0.00001
|
|
NM_001369.3(DNAH5):c.13633T>C (p.Trp4545Arg)
|
rs1161303371
|
0.00001
|
|
NM_001369.3(DNAH5):c.13658T>C (p.Ile4553Thr)
|
rs757572628
|
0.00001
|
|
NM_001369.3(DNAH5):c.13677G>A (p.Val4559=)
|
rs1283108923
|
0.00001
|
|
NM_001369.3(DNAH5):c.13697T>C (p.Val4566Ala)
|
rs765032639
|
0.00001
|
|
NM_001369.3(DNAH5):c.13699A>G (p.Ile4567Val)
|
rs761546028
|
0.00001
|
|
NM_001369.3(DNAH5):c.13704G>C (p.Arg4568Ser)
|
rs776530999
|
0.00001
|
|
NM_001369.3(DNAH5):c.13719C>T (p.Asn4573=)
|
rs747291233
|
0.00001
|
|
NM_001369.3(DNAH5):c.1371A>G (p.Pro457=)
|
rs750936789
|
0.00001
|
|
NM_001369.3(DNAH5):c.13724-13A>G
|
rs1036559068
|
0.00001
|
|
NM_001369.3(DNAH5):c.13724-13A>T
|
rs1036559068
|
0.00001
|
|
NM_001369.3(DNAH5):c.13724-19T>C
|
rs753564987
|
0.00001
|
|
NM_001369.3(DNAH5):c.13724-7T>G
|
rs775698729
|
0.00001
|
|
NM_001369.3(DNAH5):c.13729C>T (p.Arg4577Ter)
|
rs1365275304
|
0.00001
|
|
NM_001369.3(DNAH5):c.13738C>T (p.Arg4580Trp)
|
rs771318876
|
0.00001
|
|
NM_001369.3(DNAH5):c.13749C>T (p.Ser4583=)
|
rs1452713574
|
0.00001
|
|
NM_001369.3(DNAH5):c.13773T>G (p.Val4591=)
|
rs1479332924
|
0.00001
|
|
NM_001369.3(DNAH5):c.13797C>T (p.Ala4599=)
|
rs375643128
|
0.00001
|
|
NM_001369.3(DNAH5):c.13798G>A (p.Ala4600Thr)
|
rs774279588
|
0.00001
|
|
NM_001369.3(DNAH5):c.13807C>T (p.Leu4603Phe)
|
rs191662365
|
0.00001
|
|
NM_001369.3(DNAH5):c.13827T>C (p.Pro4609=)
|
rs748494424
|
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.1396G>A (p.Glu466Lys)
|
rs377439232
|
0.00001
|
|
NM_001369.3(DNAH5):c.1398G>A (p.Glu466=)
|
rs759227909
|
0.00001
|
|
NM_001369.3(DNAH5):c.1420G>A (p.Glu474Lys)
|
rs886060012
|
0.00001
|
|
NM_001369.3(DNAH5):c.1431C>T (p.His477=)
|
rs1028207982
|
0.00001
|
|
NM_001369.3(DNAH5):c.1446G>A (p.Lys482=)
|
rs1468330146
|
0.00001
|
|
NM_001369.3(DNAH5):c.1465A>G (p.Thr489Ala)
|
rs779916415
|
0.00001
|
|
NM_001369.3(DNAH5):c.1473G>A (p.Lys491=)
|
rs142684499
|
0.00001
|
|
NM_001369.3(DNAH5):c.1502T>C (p.Ile501Thr)
|
rs746819760
|
0.00001
|
|
NM_001369.3(DNAH5):c.1528A>G (p.Lys510Glu)
|
rs1776307720
|
0.00001
|
|
NM_001369.3(DNAH5):c.1536+17C>T
|
rs976380446
|
0.00001
|
|
NM_001369.3(DNAH5):c.1536+18T>A
|
rs1776301003
|
0.00001
|
|
NM_001369.3(DNAH5):c.1536+8A>G
|
rs1580862932
|
0.00001
|
|
NM_001369.3(DNAH5):c.1553T>C (p.Ile518Thr)
|
rs552076179
|
0.00001
|
|
NM_001369.3(DNAH5):c.1575C>T (p.Phe525=)
|
rs755393698
|
0.00001
|
|
NM_001369.3(DNAH5):c.1578A>G (p.Leu526=)
|
rs1775984639
|
0.00001
|
|
NM_001369.3(DNAH5):c.1584G>A (p.Gln528=)
|
rs769824207
|
0.00001
|
|
NM_001369.3(DNAH5):c.159C>G (p.Thr53=)
|
rs773322142
|
0.00001
|
|
NM_001369.3(DNAH5):c.1616A>C (p.Glu539Ala)
|
rs559334478
|
0.00001
|
|
NM_001369.3(DNAH5):c.1642C>T (p.His548Tyr)
|
rs778487272
|
0.00001
|
|
NM_001369.3(DNAH5):c.1644+10A>G
|
rs756933903
|
0.00001
|
|
NM_001369.3(DNAH5):c.1655G>A (p.Arg552Gln)
|
rs943862890
|
0.00001
|
|
NM_001369.3(DNAH5):c.1669G>A (p.Val557Ile)
|
rs1241187163
|
0.00001
|
|
NM_001369.3(DNAH5):c.1678G>A (p.Ala560Thr)
|
rs1395945103
|
0.00001
|
|
NM_001369.3(DNAH5):c.1701A>G (p.Gln567=)
|
rs1334055620
|
0.00001
|
|
NM_001369.3(DNAH5):c.1717A>C (p.Lys573Gln)
|
rs776722304
|
0.00001
|
|
NM_001369.3(DNAH5):c.172G>A (p.Ala58Thr)
|
rs770299088
|
0.00001
|
|
NM_001369.3(DNAH5):c.1731-12T>A
|
rs758106572
|
0.00001
|
|
NM_001369.3(DNAH5):c.173C>A (p.Ala58Asp)
|
rs139252148
|
0.00001
|
|
NM_001369.3(DNAH5):c.1756G>T (p.Asp586Tyr)
|
rs1250105400
|
0.00001
|
|
NM_001369.3(DNAH5):c.1798A>G (p.Ile600Val)
|
rs1007969837
|
0.00001
|
|
NM_001369.3(DNAH5):c.1828C>T (p.Gln610Ter)
|
rs121908853
|
0.00001
|
|
NM_001369.3(DNAH5):c.1836C>T (p.Tyr612=)
|
rs1035218078
|
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.1875A>C (p.Gly625=)
|
rs760104411
|
0.00001
|
|
NM_001369.3(DNAH5):c.1891C>T (p.Arg631Cys)
|
rs776400781
|
0.00001
|
|
NM_001369.3(DNAH5):c.1896G>C (p.Gln632His)
|
rs746476934
|
0.00001
|
|
NM_001369.3(DNAH5):c.1904A>G (p.His635Arg)
|
rs564653952
|
0.00001
|
|
NM_001369.3(DNAH5):c.193-15T>A
|
rs373474657
|
0.00001
|
|
NM_001369.3(DNAH5):c.193-3C>A
|
rs777003278
|
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.1948G>A (p.Val650Met)
|
rs565277214
|
0.00001
|
|
NM_001369.3(DNAH5):c.1992C>T (p.Asn664=)
|
rs1774582946
|
0.00001
|
|
NM_001369.3(DNAH5):c.200G>T (p.Arg67Ile)
|
rs563017861
|
0.00001
|
|
NM_001369.3(DNAH5):c.2010C>G (p.Leu670=)
|
rs1279805559
|
0.00001
|
|
NM_001369.3(DNAH5):c.2022G>C (p.Glu674Asp)
|
rs202042110
|
0.00001
|
|
NM_001369.3(DNAH5):c.2028C>T (p.Leu676=)
|
rs1358924801
|
0.00001
|
|
NM_001369.3(DNAH5):c.2035A>G (p.Arg679Gly)
|
rs774319188
|
0.00001
|
|
NM_001369.3(DNAH5):c.2052+1G>T
|
rs1774569455
|
0.00001
|
|
NM_001369.3(DNAH5):c.2052+7C>T
|
rs748368893
|
0.00001
|
|
NM_001369.3(DNAH5):c.2077G>C (p.Glu693Gln)
|
rs149959033
|
0.00001
|
|
NM_001369.3(DNAH5):c.2089T>C (p.Leu697=)
|
rs146842552
|
0.00001
|
|
NM_001369.3(DNAH5):c.2094G>A (p.Val698=)
|
rs769746319
|
0.00001
|
|
NM_001369.3(DNAH5):c.2101C>T (p.Pro701Ser)
|
rs768863581
|
0.00001
|
|
NM_001369.3(DNAH5):c.2112G>A (p.Gly704=)
|
rs1774436545
|
0.00001
|
|
NM_001369.3(DNAH5):c.2152T>C (p.Phe718Leu)
|
rs777990201
|
0.00001
|
|
NM_001369.3(DNAH5):c.2196T>C (p.Ser732=)
|
rs1328266176
|
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.2247C>T (p.Phe749=)
|
rs1774417172
|
0.00001
|
|
NM_001369.3(DNAH5):c.2254A>G (p.Met752Val)
|
rs745899447
|
0.00001
|
|
NM_001369.3(DNAH5):c.2259+14A>T
|
rs1299619785
|
0.00001
|
|
NM_001369.3(DNAH5):c.2259+8A>G
|
rs202137813
|
0.00001
|
|
NM_001369.3(DNAH5):c.2260-7A>T
|
rs530639771
|
0.00001
|
|
NM_001369.3(DNAH5):c.2260-8C>T
|
rs1279714167
|
0.00001
|
|
NM_001369.3(DNAH5):c.2286G>A (p.Val762=)
|
rs759849155
|
0.00001
|
|
NM_001369.3(DNAH5):c.2311G>A (p.Glu771Lys)
|
rs1216239202
|
0.00001
|
|
NM_001369.3(DNAH5):c.2331C>T (p.His777=)
|
rs1275041810
|
0.00001
|
|
NM_001369.3(DNAH5):c.2345A>G (p.Asp782Gly)
|
rs1447345329
|
0.00001
|
|
NM_001369.3(DNAH5):c.2373A>T (p.Ala791=)
|
rs1040388322
|
0.00001
|
|
NM_001369.3(DNAH5):c.2409A>G (p.Leu803=)
|
rs752478888
|
0.00001
|
|
NM_001369.3(DNAH5):c.2417C>T (p.Thr806Ile)
|
rs766649400
|
0.00001
|
|
NM_001369.3(DNAH5):c.2425A>G (p.Lys809Glu)
|
rs1446175382
|
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.2490C>T (p.Ala830=)
|
rs200980858
|
0.00001
|
|
NM_001369.3(DNAH5):c.2496A>G (p.Leu832=)
|
rs751255770
|
0.00001
|
|
NM_001369.3(DNAH5):c.2499A>G (p.Glu833=)
|
rs369887785
|
0.00001
|
|
NM_001369.3(DNAH5):c.249C>T (p.Tyr83=)
|
rs747750664
|
0.00001
|
|
NM_001369.3(DNAH5):c.2502A>C (p.Glu834Asp)
|
rs758196264
|
0.00001
|
|
NM_001369.3(DNAH5):c.2514G>A (p.Thr838=)
|
rs1403119826
|
0.00001
|
|
NM_001369.3(DNAH5):c.252T>G (p.Tyr84Ter)
|
rs754982008
|
0.00001
|
|
NM_001369.3(DNAH5):c.2533C>T (p.Gln845Ter)
|
rs1060501458
|
0.00001
|
|
NM_001369.3(DNAH5):c.2556A>G (p.Glu852=)
|
rs1460367490
|
0.00001
|
|
NM_001369.3(DNAH5):c.2577+11C>A
|
rs776295192
|
0.00001
|
|
NM_001369.3(DNAH5):c.2578-8_2578-6del
|
rs886060011
|
0.00001
|
|
NM_001369.3(DNAH5):c.257A>G (p.Asp86Gly)
|
rs147441805
|
0.00001
|
|
NM_001369.3(DNAH5):c.259G>A (p.Val87Met)
|
rs1778067241
|
0.00001
|
|
NM_001369.3(DNAH5):c.264G>A (p.Glu88=)
|
rs766185719
|
0.00001
|
|
NM_001369.3(DNAH5):c.265G>A (p.Glu89Lys)
|
rs1346326284
|
0.00001
|
|
NM_001369.3(DNAH5):c.2674del (p.Val892fs)
|
rs1772380356
|
0.00001
|
|
NM_001369.3(DNAH5):c.2694T>C (p.Ser898=)
|
rs1199775515
|
0.00001
|
|
NM_001369.3(DNAH5):c.2706C>T (p.Ser902=)
|
rs778689338
|
0.00001
|
|
NM_001369.3(DNAH5):c.2744-1G>T
|
rs1772232595
|
0.00001
|
|
NM_001369.3(DNAH5):c.2744-8T>C
|
rs1324131566
|
0.00001
|
|
NM_001369.3(DNAH5):c.2745A>C (p.Ala915=)
|
rs750846850
|
0.00001
|
|
NM_001369.3(DNAH5):c.275C>T (p.Thr92Ile)
|
rs765566079
|
0.00001
|
|
NM_001369.3(DNAH5):c.277+20C>T
|
rs776823951
|
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.278-4G>A
|
rs2547161029
|
0.00001
|
|
NM_001369.3(DNAH5):c.2799C>A (p.Ala933=)
|
rs770888912
|
0.00001
|
|
NM_001369.3(DNAH5):c.2804C>T (p.Ala935Val)
|
rs1457781570
|
0.00001
|
|
NM_001369.3(DNAH5):c.2814G>A (p.Leu938=)
|
rs772897677
|
0.00001
|
|
NM_001369.3(DNAH5):c.2817G>A (p.Thr939=)
|
rs1338338371
|
0.00001
|
|
NM_001369.3(DNAH5):c.2823C>A (p.Val941=)
|
rs757208843
|
0.00001
|
|
NM_001369.3(DNAH5):c.2825C>T (p.Thr942Met)
|
rs1332078256
|
0.00001
|
|
NM_001369.3(DNAH5):c.2826G>A (p.Thr942=)
|
rs768837837
|
0.00001
|
|
NM_001369.3(DNAH5):c.2844_2845del (p.Glu949fs)
|
rs1772219649
|
0.00001
|
|
NM_001369.3(DNAH5):c.2863G>A (p.Ala955Thr)
|
rs1433215311
|
0.00001
|
|
NM_001369.3(DNAH5):c.2869G>A (p.Glu957Lys)
|
rs762848961
|
0.00001
|
|
NM_001369.3(DNAH5):c.2901G>A (p.Met967Ile)
|
rs761721014
|
0.00001
|
|
NM_001369.3(DNAH5):c.2924G>A (p.Arg975Lys)
|
rs763807321
|
0.00001
|
|
NM_001369.3(DNAH5):c.2931A>G (p.Thr977=)
|
rs1469143674
|
0.00001
|
|
NM_001369.3(DNAH5):c.2941A>G (p.Ile981Val)
|
rs746356049
|
0.00001
|
|
NM_001369.3(DNAH5):c.2945G>A (p.Arg982His)
|
rs200704983
|
0.00001
|
|
NM_001369.3(DNAH5):c.2951G>A (p.Arg984His)
|
rs780758815
|
0.00001
|
|
NM_001369.3(DNAH5):c.2979C>T (p.Phe993=)
|
rs751271303
|
0.00001
|
|
NM_001369.3(DNAH5):c.2983+1G>A
|
rs1772196982
|
0.00001
|
|
NM_001369.3(DNAH5):c.2983+5T>C
|
rs1353417066
|
0.00001
|
|
NM_001369.3(DNAH5):c.2997C>G (p.Ala999=)
|
rs760587023
|
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.3013A>T (p.Asn1005Tyr)
|
rs770975422
|
0.00001
|
|
NM_001369.3(DNAH5):c.3024C>T (p.Pro1008=)
|
rs372336970
|
0.00001
|
|
NM_001369.3(DNAH5):c.3025A>C (p.Ile1009Leu)
|
rs748538358
|
0.00001
|
|
NM_001369.3(DNAH5):c.3031C>T (p.Arg1011Trp)
|
rs928800148
|
0.00001
|
|
NM_001369.3(DNAH5):c.3032G>A (p.Arg1011Gln)
|
rs540368538
|
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.3051C>T (p.Ala1017=)
|
rs1369540681
|
0.00001
|
|
NM_001369.3(DNAH5):c.3060C>T (p.Asn1020=)
|
rs777905258
|
0.00001
|
|
NM_001369.3(DNAH5):c.3064G>A (p.Val1022Ile)
|
rs375218798
|
0.00001
|
|
NM_001369.3(DNAH5):c.3072C>T (p.Ala1024=)
|
rs759791781
|
0.00001
|
|
NM_001369.3(DNAH5):c.3132C>G (p.Val1044=)
|
rs372098767
|
0.00001
|
|
NM_001369.3(DNAH5):c.3154A>C (p.Ser1052Arg)
|
rs367835771
|
0.00001
|
|
NM_001369.3(DNAH5):c.3174+16A>G
|
rs2547030631
|
0.00001
|
|
NM_001369.3(DNAH5):c.3174+8T>C
|
rs760991729
|
0.00001
|
|
NM_001369.3(DNAH5):c.3175-5T>C
|
rs773041687
|
0.00001
|
|
NM_001369.3(DNAH5):c.3175-6T>C
|
rs762692396
|
0.00001
|
|
NM_001369.3(DNAH5):c.3181A>G (p.Ile1061Val)
|
rs1771855564
|
0.00001
|
|
NM_001369.3(DNAH5):c.3189A>C (p.Glu1063Asp)
|
rs1325940654
|
0.00001
|
|
NM_001369.3(DNAH5):c.3200C>T (p.Ala1067Val)
|
rs776594508
|
0.00001
|
|
NM_001369.3(DNAH5):c.3236T>C (p.Val1079Ala)
|
rs1771847921
|
0.00001
|
|
NM_001369.3(DNAH5):c.3263-5T>C
|
rs777699795
|
0.00001
|
|
NM_001369.3(DNAH5):c.3263A>G (p.Asp1088Gly)
|
rs199885833
|
0.00001
|
|
NM_001369.3(DNAH5):c.3277G>A (p.Ala1093Thr)
|
rs369902145
|
0.00001
|
|
NM_001369.3(DNAH5):c.3314A>G (p.Asn1105Ser)
|
rs371783309
|
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.3403del (p.Ile1135fs)
|
rs1199019362
|
0.00001
|
|
NM_001369.3(DNAH5):c.3417T>C (p.Asp1139=)
|
rs376330483
|
0.00001
|
|
NM_001369.3(DNAH5):c.3427C>T (p.Arg1143Cys)
|
rs775816222
|
0.00001
|
|
NM_001369.3(DNAH5):c.3444G>A (p.Trp1148Ter)
|
rs771350745
|
0.00001
|
|
NM_001369.3(DNAH5):c.3446A>G (p.Gln1149Arg)
|
rs780846691
|
0.00001
|
|
NM_001369.3(DNAH5):c.3459A>G (p.Glu1153=)
|
rs758346022
|
0.00001
|
|
NM_001369.3(DNAH5):c.3465C>T (p.Ala1155=)
|
rs765054817
|
0.00001
|
|
NM_001369.3(DNAH5):c.3474A>G (p.Thr1158=)
|
rs1770126679
|
0.00001
|
|
NM_001369.3(DNAH5):c.3484C>T (p.Gln1162Ter)
|
rs760081822
|
0.00001
|
|
NM_001369.3(DNAH5):c.3487A>C (p.Ser1163Arg)
|
rs774760728
|
0.00001
|
|
NM_001369.3(DNAH5):c.348C>T (p.Thr116=)
|
rs775947029
|
0.00001
|
|
NM_001369.3(DNAH5):c.3529C>T (p.Gln1177Ter)
|
rs1050312639
|
0.00001
|
|
NM_001369.3(DNAH5):c.3535C>G (p.Leu1179Val)
|
rs745800766
|
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.3573T>G (p.Cys1191Trp)
|
rs756343037
|
0.00001
|
|
NM_001369.3(DNAH5):c.357C>T (p.Asn119=)
|
rs1026473277
|
0.00001
|
|
NM_001369.3(DNAH5):c.3598+10T>C
|
rs1310926563
|
0.00001
|
|
NM_001369.3(DNAH5):c.3598+19A>G
|
rs767601725
|
0.00001
|
|
NM_001369.3(DNAH5):c.3607A>C (p.Lys1203Gln)
|
rs996929950
|
0.00001
|
|
NM_001369.3(DNAH5):c.3613G>A (p.Ala1205Thr)
|
rs767655417
|
0.00001
|
|
NM_001369.3(DNAH5):c.3614C>T (p.Ala1205Val)
|
rs755018988
|
0.00001
|
|
NM_001369.3(DNAH5):c.3618G>C (p.Leu1206=)
|
rs1214008235
|
0.00001
|
|
NM_001369.3(DNAH5):c.362T>C (p.Val121Ala)
|
rs752992572
|
0.00001
|
|
NM_001369.3(DNAH5):c.3636C>A (p.Ala1212=)
|
rs1319516979
|
0.00001
|
|
NM_001369.3(DNAH5):c.3642G>A (p.Met1214Ile)
|
rs1364628669
|
0.00001
|
|
NM_001369.3(DNAH5):c.3643G>C (p.Val1215Leu)
|
rs763448297
|
0.00001
|
|
NM_001369.3(DNAH5):c.3648C>T (p.Val1216=)
|
rs1175994969
|
0.00001
|
|
NM_001369.3(DNAH5):c.3649A>G (p.Ile1217Val)
|
rs765615614
|
0.00001
|
|
NM_001369.3(DNAH5):c.3665A>T (p.Asn1222Ile)
|
rs770629081
|
0.00001
|
|
NM_001369.3(DNAH5):c.3677G>A (p.Arg1226Gln)
|
rs781418120
|
0.00001
|
|
NM_001369.3(DNAH5):c.3683A>T (p.Glu1228Val)
|
rs751848182
|
0.00001
|
|
NM_001369.3(DNAH5):c.3696T>C (p.Ile1232=)
|
rs1392338764
|
0.00001
|
|
NM_001369.3(DNAH5):c.3707T>C (p.Ile1236Thr)
|
rs765698015
|
0.00001
|
|
NM_001369.3(DNAH5):c.3736C>T (p.Pro1246Ser)
|
rs1769992971
|
0.00001
|
|
NM_001369.3(DNAH5):c.3747C>T (p.Asp1249=)
|
rs1280894186
|
0.00001
|
|
NM_001369.3(DNAH5):c.3758T>C (p.Ile1253Thr)
|
rs748176046
|
0.00001
|
|
NM_001369.3(DNAH5):c.3761G>A (p.Arg1254Gln)
|
rs747211582
|
0.00001
|
|
NM_001369.3(DNAH5):c.3783A>G (p.Lys1261=)
|
rs1171456052
|
0.00001
|
|
NM_001369.3(DNAH5):c.3792G>C (p.Arg1264Ser)
|
rs769589158
|
0.00001
|
|
NM_001369.3(DNAH5):c.3816T>C (p.Phe1272=)
|
rs1205757837
|
0.00001
|
|
NM_001369.3(DNAH5):c.3821T>C (p.Val1274Ala)
|
rs761168416
|
0.00001
|
|
NM_001369.3(DNAH5):c.3835-12del
|
rs777327256
|
0.00001
|
|
NM_001369.3(DNAH5):c.3835-13T>A
|
rs778365337
|
0.00001
|
|
NM_001369.3(DNAH5):c.383T>A (p.Val128Glu)
|
rs752873229
|
0.00001
|
|
NM_001369.3(DNAH5):c.384G>C (p.Val128=)
|
rs201109037
|
0.00001
|
|
NM_001369.3(DNAH5):c.3861T>C (p.Tyr1287=)
|
rs764026489
|
0.00001
|
|
NM_001369.3(DNAH5):c.3865C>T (p.Leu1289Phe)
|
rs2546988627
|
0.00001
|
|
NM_001369.3(DNAH5):c.3873A>T (p.Ile1291=)
|
rs970611077
|
0.00001
|
|
NM_001369.3(DNAH5):c.3887T>C (p.Ile1296Thr)
|
rs975138818
|
0.00001
|
|
NM_001369.3(DNAH5):c.3897T>C (p.Val1299=)
|
rs749416187
|
0.00001
|
|
NM_001369.3(DNAH5):c.3906G>A (p.Leu1302=)
|
rs756702210
|
0.00001
|
|
NM_001369.3(DNAH5):c.3935G>A (p.Arg1312His)
|
rs759615079
|
0.00001
|
|
NM_001369.3(DNAH5):c.3939T>C (p.Ala1313=)
|
rs1769511468
|
0.00001
|
|
NM_001369.3(DNAH5):c.3943G>A (p.Glu1315Lys)
|
rs753397685
|
0.00001
|
|
NM_001369.3(DNAH5):c.3962T>G (p.Val1321Gly)
|
rs1189762101
|
0.00001
|
|
NM_001369.3(DNAH5):c.3967C>T (p.Leu1323=)
|
rs767280037
|
0.00001
|
|
NM_001369.3(DNAH5):c.4003G>A (p.Val1335Met)
|
rs201794224
|
0.00001
|
|
NM_001369.3(DNAH5):c.4011A>C (p.Val1337=)
|
rs770033140
|
0.00001
|
|
NM_001369.3(DNAH5):c.4023T>C (p.Asp1341=)
|
rs148451151
|
0.00001
|
|
NM_001369.3(DNAH5):c.4037A>T (p.Tyr1346Phe)
|
rs1000251156
|
0.00001
|
|
NM_001369.3(DNAH5):c.4054-19T>A
|
rs2546984686
|
0.00001
|
|
NM_001369.3(DNAH5):c.4054-2A>G
|
rs1769239782
|
0.00001
|
|
NM_001369.3(DNAH5):c.4054-6G>C
|
rs574371136
|
0.00001
|
|
NM_001369.3(DNAH5):c.4060C>G (p.Pro1354Ala)
|
rs752210248
|
0.00001
|
|
NM_001369.3(DNAH5):c.4083C>T (p.Pro1361=)
|
rs149691390
|
0.00001
|
|
NM_001369.3(DNAH5):c.40G>A (p.Val14Ile)
|
rs1015850611
|
0.00001
|
|
NM_001369.3(DNAH5):c.4101G>A (p.Arg1367=)
|
rs764142879
|
0.00001
|
|
NM_001369.3(DNAH5):c.4116+15T>C
|
rs201947846
|
0.00001
|
|
NM_001369.3(DNAH5):c.4116+19A>G
|
rs1318476393
|
0.00001
|
|
NM_001369.3(DNAH5):c.4117-13G>A
|
rs771352867
|
0.00001
|
|
NM_001369.3(DNAH5):c.4117-2A>G
|
rs1467301649
|
0.00001
|
|
NM_001369.3(DNAH5):c.4117-8T>C
|
rs754469218
|
0.00001
|
|
NM_001369.3(DNAH5):c.4138C>T (p.Arg1380Trp)
|
rs371700933
|
0.00001
|
|
NM_001369.3(DNAH5):c.4145A>G (p.Tyr1382Cys)
|
rs183833827
|
0.00001
|
|
NM_001369.3(DNAH5):c.4146C>T (p.Tyr1382=)
|
rs1180013323
|
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.4208T>C (p.Leu1403Pro)
|
rs1252035893
|
0.00001
|
|
NM_001369.3(DNAH5):c.4237C>T (p.Gln1413Ter)
|
rs752734772
|
0.00001
|
|
NM_001369.3(DNAH5):c.4244T>C (p.Ile1415Thr)
|
rs1769158038
|
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.4295T>C (p.Ile1432Thr)
|
rs753029826
|
0.00001
|
|
NM_001369.3(DNAH5):c.4309G>A (p.Val1437Met)
|
rs1390327836
|
0.00001
|
|
NM_001369.3(DNAH5):c.4314del (p.Asn1438fs)
|
rs765355281
|
0.00001
|
|
NM_001369.3(DNAH5):c.4329C>T (p.Asn1443=)
|
rs750736449
|
0.00001
|
|
NM_001369.3(DNAH5):c.4348C>T (p.Gln1450Ter)
|
rs771663107
|
0.00001
|
|
NM_001369.3(DNAH5):c.4355+20G>C
|
rs1769136200
|
0.00001
|
|
NM_001369.3(DNAH5):c.4355+6A>C
|
rs771009010
|
0.00001
|
|
NM_001369.3(DNAH5):c.4377C>T (p.Ala1459=)
|
rs1247715056
|
0.00001
|
|
NM_001369.3(DNAH5):c.438+11A>G
|
rs1239191992
|
0.00001
|
|
NM_001369.3(DNAH5):c.438+18T>C
|
rs1483434845
|
0.00001
|
|
NM_001369.3(DNAH5):c.438+8G>A
|
rs950201438
|
0.00001
|
|
NM_001369.3(DNAH5):c.439-17T>C
|
rs756444412
|
0.00001
|
|
NM_001369.3(DNAH5):c.439-2A>G
|
rs565076112
|
0.00001
|
|
NM_001369.3(DNAH5):c.439-3C>T
|
rs781442128
|
0.00001
|
|
NM_001369.3(DNAH5):c.4399T>C (p.Leu1467=)
|
rs1768951629
|
0.00001
|
|
NM_001369.3(DNAH5):c.4404C>T (p.Asp1468=)
|
rs1768950903
|
0.00001
|
|
NM_001369.3(DNAH5):c.4413G>A (p.Lys1471=)
|
rs1031523588
|
0.00001
|
|
NM_001369.3(DNAH5):c.441G>C (p.Glu147Asp)
|
rs200732050
|
0.00001
|
|
NM_001369.3(DNAH5):c.4434G>A (p.Glu1478=)
|
rs764614084
|
0.00001
|
|
NM_001369.3(DNAH5):c.4464del (p.Ser1488fs)
|
rs1464198654
|
0.00001
|
|
NM_001369.3(DNAH5):c.4491A>G (p.Glu1497=)
|
rs1768937134
|
0.00001
|
|
NM_001369.3(DNAH5):c.4524T>G (p.Asp1508Glu)
|
rs1268555395
|
0.00001
|
|
NM_001369.3(DNAH5):c.4539C>T (p.Ser1513=)
|
rs764718901
|
0.00001
|
|
NM_001369.3(DNAH5):c.4542T>G (p.Phe1514Leu)
|
rs761704400
|
0.00001
|
|
NM_001369.3(DNAH5):c.4553A>G (p.Asn1518Ser)
|
rs1048946770
|
0.00001
|
|
NM_001369.3(DNAH5):c.4577A>T (p.Lys1526Ile)
|
rs778447598
|
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.4613C>T (p.Ala1538Val)
|
rs201165908
|
0.00001
|
|
NM_001369.3(DNAH5):c.4637A>G (p.Gln1546Arg)
|
rs1048565408
|
0.00001
|
|
NM_001369.3(DNAH5):c.4662A>G (p.Glu1554=)
|
rs1338989107
|
0.00001
|
|
NM_001369.3(DNAH5):c.4703G>A (p.Arg1568His)
|
rs200994058
|
0.00001
|
|
NM_001369.3(DNAH5):c.4707A>G (p.Gly1569=)
|
rs886059985
|
0.00001
|
|
NM_001369.3(DNAH5):c.4716C>T (p.Leu1572=)
|
rs747337013
|
0.00001
|
|
NM_001369.3(DNAH5):c.4717T>C (p.Leu1573=)
|
rs773932905
|
0.00001
|
|
NM_001369.3(DNAH5):c.4737G>A (p.Ser1579=)
|
rs938971019
|
0.00001
|
|
NM_001369.3(DNAH5):c.4743C>T (p.Ile1581=)
|
rs1334724006
|
0.00001
|
|
NM_001369.3(DNAH5):c.4747G>A (p.Ala1583Thr)
|
rs374072143
|
0.00001
|
|
NM_001369.3(DNAH5):c.4787T>G (p.Leu1596Arg)
|
rs1242688686
|
0.00001
|
|
NM_001369.3(DNAH5):c.4796+12A>G
|
rs761825915
|
0.00001
|
|
NM_001369.3(DNAH5):c.4796+18C>T
|
rs1019598702
|
0.00001
|
|
NM_001369.3(DNAH5):c.4796+19T>C
|
rs1284297588
|
0.00001
|
|
NM_001369.3(DNAH5):c.4797-18A>G
|
rs750630325
|
0.00001
|
|
NM_001369.3(DNAH5):c.4802A>G (p.Asn1601Ser)
|
rs753256860
|
0.00001
|
|
NM_001369.3(DNAH5):c.4827A>G (p.Gln1609=)
|
rs1368574132
|
0.00001
|
|
NM_001369.3(DNAH5):c.4850A>G (p.Asn1617Ser)
|
rs199907056
|
0.00001
|
|
NM_001369.3(DNAH5):c.4855A>G (p.Thr1619Ala)
|
rs80164898
|
0.00001
|
|
NM_001369.3(DNAH5):c.4861A>G (p.Ile1621Val)
|
rs754133112
|
0.00001
|
|
NM_001369.3(DNAH5):c.4866C>T (p.Ile1622=)
|
rs777697449
|
0.00001
|
|
NM_001369.3(DNAH5):c.4938G>A (p.Lys1646=)
|
rs778517001
|
0.00001
|
|
NM_001369.3(DNAH5):c.4950+15_4950+17del
|
rs1304869638
|
0.00001
|
|
NM_001369.3(DNAH5):c.4950+16T>G
|
rs1768070703
|
0.00001
|
|
NM_001369.3(DNAH5):c.4951-6T>C
|
rs1766733829
|
0.00001
|
|
NM_001369.3(DNAH5):c.4959G>A (p.Lys1653=)
|
rs1207203971
|
0.00001
|
|
NM_001369.3(DNAH5):c.5003G>A (p.Arg1668Gln)
|
rs867205765
|
0.00001
|
|
NM_001369.3(DNAH5):c.5006C>T (p.Ala1669Val)
|
rs1407265486
|
0.00001
|
|
NM_001369.3(DNAH5):c.5009A>G (p.His1670Arg)
|
rs970902714
|
0.00001
|
|
NM_001369.3(DNAH5):c.5036G>A (p.Cys1679Tyr)
|
rs1221785647
|
0.00001
|
|
NM_001369.3(DNAH5):c.5045A>G (p.Asp1682Gly)
|
rs1001223985
|
0.00001
|
|
NM_001369.3(DNAH5):c.5056G>A (p.Gly1686Arg)
|
rs1385680717
|
0.00001
|
|
NM_001369.3(DNAH5):c.5067A>G (p.Leu1689=)
|
rs1200052027
|
0.00001
|
|
NM_001369.3(DNAH5):c.5073C>T (p.His1691=)
|
rs1766711145
|
0.00001
|
|
NM_001369.3(DNAH5):c.5104_5106dup (p.Ser1702_Leu1703insSer)
|
rs1404960971
|
0.00001
|
|
NM_001369.3(DNAH5):c.5110A>G (p.Thr1704Ala)
|
rs766353067
|
0.00001
|
|
NM_001369.3(DNAH5):c.5114+13G>A
|
rs202060120
|
0.00001
|
|
NM_001369.3(DNAH5):c.5114+1G>C
|
rs878854457
|
0.00001
|
|
NM_001369.3(DNAH5):c.5115-12C>T
|
rs775466242
|
0.00001
|
|
NM_001369.3(DNAH5):c.511A>G (p.Ile171Val)
|
rs770091138
|
0.00001
|
|
NM_001369.3(DNAH5):c.5146C>T (p.Arg1716Trp)
|
rs368644722
|
0.00001
|
|
NM_001369.3(DNAH5):c.5158G>A (p.Val1720Ile)
|
rs778341195
|
0.00001
|
|
NM_001369.3(DNAH5):c.5171C>T (p.Ala1724Val)
|
rs1354561021
|
0.00001
|
|
NM_001369.3(DNAH5):c.5177T>C (p.Leu1726Pro)
|
rs138890576
|
0.00001
|
|
NM_001369.3(DNAH5):c.5178A>G (p.Leu1726=)
|
rs765172494
|
0.00001
|
|
NM_001369.3(DNAH5):c.5190G>T (p.Gly1730=)
|
rs753621935
|
0.00001
|
|
NM_001369.3(DNAH5):c.5199G>A (p.Ser1733=)
|
rs142806046
|
0.00001
|
|
NM_001369.3(DNAH5):c.5212A>G (p.Ile1738Val)
|
rs1765756588
|
0.00001
|
|
NM_001369.3(DNAH5):c.5226G>A (p.Leu1742=)
|
rs749878110
|
0.00001
|
|
NM_001369.3(DNAH5):c.5294T>C (p.Ile1765Thr)
|
rs769614601
|
0.00001
|
|
NM_001369.3(DNAH5):c.5315C>T (p.Thr1772Met)
|
rs754845694
|
0.00001
|
|
NM_001369.3(DNAH5):c.5316G>A (p.Thr1772=)
|
rs1476390725
|
0.00001
|
|
NM_001369.3(DNAH5):c.5343A>G (p.Ala1781=)
|
rs1468241760
|
0.00001
|
|
NM_001369.3(DNAH5):c.5400G>A (p.Leu1800=)
|
rs1765198066
|
0.00001
|
|
NM_001369.3(DNAH5):c.5424C>T (p.Ala1808=)
|
rs915691287
|
0.00001
|
|
NM_001369.3(DNAH5):c.5436A>G (p.Gln1812=)
|
rs746150570
|
0.00001
|
|
NM_001369.3(DNAH5):c.543T>C (p.His181=)
|
rs750749745
|
0.00001
|
|
NM_001369.3(DNAH5):c.5476C>G (p.Pro1826Ala)
|
rs928564123
|
0.00001
|
|
NM_001369.3(DNAH5):c.5484+14A>C
|
rs1223458305
|
0.00001
|
|
NM_001369.3(DNAH5):c.5485-15T>C
|
rs767729100
|
0.00001
|
|
NM_001369.3(DNAH5):c.5485-5A>G
|
rs749979952
|
0.00001
|
|
NM_001369.3(DNAH5):c.5518C>T (p.Arg1840Trp)
|
rs760640325
|
0.00001
|
|
NM_001369.3(DNAH5):c.5519G>A (p.Arg1840Gln)
|
rs1253748219
|
0.00001
|
|
NM_001369.3(DNAH5):c.552C>T (p.Gly184=)
|
rs755707971
|
0.00001
|
|
NM_001369.3(DNAH5):c.5536C>G (p.Leu1846Val)
|
rs1311080684
|
0.00001
|
|
NM_001369.3(DNAH5):c.5539A>G (p.Arg1847Gly)
|
rs774073166
|
0.00001
|
|
NM_001369.3(DNAH5):c.553G>A (p.Glu185Lys)
|
rs752339132
|
0.00001
|
|
NM_001369.3(DNAH5):c.5546C>G (p.Ala1849Gly)
|
rs771182248
|
0.00001
|
|
NM_001369.3(DNAH5):c.5552T>C (p.Phe1851Ser)
|
rs368576880
|
0.00001
|
|
NM_001369.3(DNAH5):c.5557A>T (p.Lys1853Ter)
|
rs748618094
|
0.00001
|
|
NM_001369.3(DNAH5):c.5563A>G (p.Ile1855Val)
|
rs1259929811
|
0.00001
|
|
NM_001369.3(DNAH5):c.5565C>A (p.Ile1855=)
|
rs781725837
|
0.00001
|
|
NM_001369.3(DNAH5):c.5566A>G (p.Met1856Val)
|
rs755242769
|
0.00001
|
|
NM_001369.3(DNAH5):c.5583G>T (p.Gln1861His)
|
rs756945139
|
0.00001
|
|
NM_001369.3(DNAH5):c.5585C>T (p.Ala1862Val)
|
rs1256145306
|
0.00001
|
|
NM_001369.3(DNAH5):c.559G>A (p.Glu187Lys)
|
rs759059925
|
0.00001
|
|
NM_001369.3(DNAH5):c.5603A>G (p.Asn1868Ser)
|
rs945907926
|
0.00001
|
|
NM_001369.3(DNAH5):c.5606C>T (p.Thr1869Ile)
|
rs1286610541
|
0.00001
|
|
NM_001369.3(DNAH5):c.560A>T (p.Glu187Val)
|
rs1214362304
|
0.00001
|
|
NM_001369.3(DNAH5):c.5616C>T (p.Asp1872=)
|
rs145129897
|
0.00001
|
|
NM_001369.3(DNAH5):c.5625G>A (p.Thr1875=)
|
rs1054334590
|
0.00001
|
|
NM_001369.3(DNAH5):c.5632C>G (p.Leu1878Val)
|
rs1561401862
|
0.00001
|
|
NM_001369.3(DNAH5):c.5652G>A (p.Val1884=)
|
rs1194577906
|
0.00001
|
|
NM_001369.3(DNAH5):c.565C>G (p.Leu189Val)
|
rs1344395624
|
0.00001
|
|
NM_001369.3(DNAH5):c.5660A>G (p.Glu1887Gly)
|
rs753473700
|
0.00001
|
|
NM_001369.3(DNAH5):c.57+14G>T
|
rs756464306
|
0.00001
|
|
NM_001369.3(DNAH5):c.57+16C>G
|
rs1779741111
|
0.00001
|
|
NM_001369.3(DNAH5):c.57+17T>C
|
rs753059490
|
0.00001
|
|
NM_001369.3(DNAH5):c.5700T>C (p.Phe1900=)
|
rs1392755160
|
0.00001
|
|
NM_001369.3(DNAH5):c.5703T>C (p.Asp1901=)
|
rs761979042
|
0.00001
|
|
NM_001369.3(DNAH5):c.5705A>G (p.Asp1902Gly)
|
rs776748041
|
0.00001
|
|
NM_001369.3(DNAH5):c.5709+12A>G
|
rs1477247231
|
0.00001
|
|
NM_001369.3(DNAH5):c.5710-11T>C
|
rs750184432
|
0.00001
|
|
NM_001369.3(DNAH5):c.5710-14C>T
|
rs1258293540
|
0.00001
|
|
NM_001369.3(DNAH5):c.5710-9G>A
|
rs1425299935
|
0.00001
|
|
NM_001369.3(DNAH5):c.5716A>G (p.Met1906Val)
|
rs374104645
|
0.00001
|
|
NM_001369.3(DNAH5):c.5729G>A (p.Ser1910Asn)
|
rs1314064272
|
0.00001
|
|
NM_001369.3(DNAH5):c.5745G>T (p.Glu1915Asp)
|
rs775769384
|
0.00001
|
|
NM_001369.3(DNAH5):c.5760C>T (p.Cys1920=)
|
rs1764867511
|
0.00001
|
|
NM_001369.3(DNAH5):c.5762G>A (p.Arg1921Lys)
|
rs1331052558
|
0.00001
|
|
NM_001369.3(DNAH5):c.58-12C>G
|
rs1427248631
|
0.00001
|
|
NM_001369.3(DNAH5):c.58-5T>A
|
rs1778387721
|
0.00001
|
|
NM_001369.3(DNAH5):c.58-6T>C
|
rs770332926
|
0.00001
|
|
NM_001369.3(DNAH5):c.5802C>T (p.His1934=)
|
rs754458099
|
0.00001
|
|
NM_001369.3(DNAH5):c.5807C>T (p.Thr1936Ile)
|
rs779609286
|
0.00001
|
|
NM_001369.3(DNAH5):c.5821A>T (p.Ile1941Leu)
|
rs754033261
|
0.00001
|
|
NM_001369.3(DNAH5):c.5830A>C (p.Asn1944His)
|
rs906638785
|
0.00001
|
|
NM_001369.3(DNAH5):c.5849C>T (p.Thr1950Ile)
|
rs1060501465
|
0.00001
|
|
NM_001369.3(DNAH5):c.587G>A (p.Arg196His)
|
rs773082738
|
0.00001
|
|
NM_001369.3(DNAH5):c.5883-1G>A
|
rs1195745037
|
0.00001
|
|
NM_001369.3(DNAH5):c.5883-2A>G
|
rs1580465796
|
0.00001
|
|
NM_001369.3(DNAH5):c.5883-6A>G
|
rs763588282
|
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.5923G>C (p.Gly1975Arg)
|
rs752901859
|
0.00001
|
|
NM_001369.3(DNAH5):c.5925G>A (p.Gly1975=)
|
rs755312532
|
0.00001
|
|
NM_001369.3(DNAH5):c.594G>A (p.Glu198=)
|
rs769718109
|
0.00001
|
|
NM_001369.3(DNAH5):c.5955C>A (p.Gly1985=)
|
rs141369170
|
0.00001
|
|
NM_001369.3(DNAH5):c.5967C>G (p.Thr1989=)
|
rs1179920146
|
0.00001
|
|
NM_001369.3(DNAH5):c.5983C>T (p.Arg1995Ter)
|
rs773711154
|
0.00001
|
|
NM_001369.3(DNAH5):c.5992G>A (p.Gly1998Arg)
|
rs1298790222
|
0.00001
|
|
NM_001369.3(DNAH5):c.5997A>G (p.Lys1999=)
|
rs1439675416
|
0.00001
|
|
NM_001369.3(DNAH5):c.6000C>T (p.Tyr2000=)
|
rs773208371
|
0.00001
|
|
NM_001369.3(DNAH5):c.6003C>T (p.Val2001=)
|
rs372754085
|
0.00001
|
|
NM_001369.3(DNAH5):c.6061+14T>G
|
rs1362753965
|
0.00001
|
|
NM_001369.3(DNAH5):c.6062-15A>C
|
rs373753726
|
0.00001
|
|
NM_001369.3(DNAH5):c.608T>C (p.Leu203Pro)
|
rs1435322116
|
0.00001
|
|
NM_001369.3(DNAH5):c.6105C>T (p.Asn2035=)
|
rs1763448896
|
0.00001
|
|
NM_001369.3(DNAH5):c.6114T>A (p.Asp2038Glu)
|
rs772306307
|
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.6183G>A (p.Lys2061=)
|
rs1763433728
|
0.00001
|
|
NM_001369.3(DNAH5):c.6185C>A (p.Ser2062Tyr)
|
rs1004071220
|
0.00001
|
|
NM_001369.3(DNAH5):c.6191T>C (p.Ile2064Thr)
|
rs753103389
|
0.00001
|
|
NM_001369.3(DNAH5):c.6197C>T (p.Thr2066Ile)
|
rs77147480
|
0.00001
|
|
NM_001369.3(DNAH5):c.6198T>C (p.Thr2066=)
|
rs1763431235
|
0.00001
|
|
NM_001369.3(DNAH5):c.6231T>C (p.Phe2077=)
|
rs1392616057
|
0.00001
|
|
NM_001369.3(DNAH5):c.6246C>T (p.Thr2082=)
|
rs1763426938
|
0.00001
|
|
NM_001369.3(DNAH5):c.6250-11T>G
|
rs1424629012
|
0.00001
|
|
NM_001369.3(DNAH5):c.6250-18G>A
|
rs1056229331
|
0.00001
|
|
NM_001369.3(DNAH5):c.6250-6G>C
|
rs763560081
|
0.00001
|
|
NM_001369.3(DNAH5):c.6261T>G (p.Tyr2087Ter)
|
rs1335539930
|
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.6282T>C (p.Pro2094=)
|
rs375699422
|
0.00001
|
|
NM_001369.3(DNAH5):c.6304C>T (p.Arg2102Cys)
|
rs767019228
|
0.00001
|
|
NM_001369.3(DNAH5):c.6305G>A (p.Arg2102His)
|
rs876657782
|
0.00001
|
|
NM_001369.3(DNAH5):c.6308C>A (p.Ser2103Ter)
|
rs769260126
|
0.00001
|
|
NM_001369.3(DNAH5):c.6332G>A (p.Arg2111His)
|
rs946204829
|
0.00001
|
|
NM_001369.3(DNAH5):c.6335_6336insT (p.Gln2112fs)
|
rs779506456
|
0.00001
|
|
NM_001369.3(DNAH5):c.6346A>C (p.Arg2116=)
|
rs747370414
|
0.00001
|
|
NM_001369.3(DNAH5):c.6347G>A (p.Arg2116Lys)
|
rs780603947
|
0.00001
|
|
NM_001369.3(DNAH5):c.6348G>A (p.Arg2116=)
|
rs1210752135
|
0.00001
|
|
NM_001369.3(DNAH5):c.6366T>C (p.Cys2122=)
|
rs1580457865
|
0.00001
|
|
NM_001369.3(DNAH5):c.6408G>A (p.Thr2136=)
|
rs765298305
|
0.00001
|
|
NM_001369.3(DNAH5):c.6413A>G (p.Tyr2138Cys)
|
rs769252635
|
0.00001
|
|
NM_001369.3(DNAH5):c.6444+15A>T
|
rs1414497146
|
0.00001
|
|
NM_001369.3(DNAH5):c.6444+7C>T
|
rs1219427450
|
0.00001
|
|
NM_001369.3(DNAH5):c.6444G>A (p.Gln2148=)
|
rs769544175
|
0.00001
|
|
NM_001369.3(DNAH5):c.6445-9A>G
|
rs1762622144
|
0.00001
|
|
NM_001369.3(DNAH5):c.6465G>C (p.Leu2155=)
|
rs1436835343
|
0.00001
|
|
NM_001369.3(DNAH5):c.646A>G (p.Ser216Gly)
|
rs757602565
|
0.00001
|
|
NM_001369.3(DNAH5):c.6477G>A (p.Leu2159=)
|
rs778815016
|
0.00001
|
|
NM_001369.3(DNAH5):c.6487C>T (p.Arg2163Trp)
|
rs757370062
|
0.00001
|
|
NM_001369.3(DNAH5):c.6490A>G (p.Thr2164Ala)
|
rs1181995095
|
0.00001
|
|
NM_001369.3(DNAH5):c.6498A>G (p.Gly2166=)
|
rs764201218
|
0.00001
|
|
NM_001369.3(DNAH5):c.6527C>T (p.Thr2176Met)
|
rs776292592
|
0.00001
|
|
NM_001369.3(DNAH5):c.6544A>G (p.Met2182Val)
|
rs778507942
|
0.00001
|
|
NM_001369.3(DNAH5):c.6548G>A (p.Arg2183His)
|
rs749422941
|
0.00001
|
|
NM_001369.3(DNAH5):c.654G>A (p.Lys218=)
|
rs200793212
|
0.00001
|
|
NM_001369.3(DNAH5):c.6553C>T (p.Leu2185=)
|
rs1254706379
|
0.00001
|
|
NM_001369.3(DNAH5):c.6556C>T (p.Arg2186Trp)
|
rs756444637
|
0.00001
|
|
NM_001369.3(DNAH5):c.6573T>C (p.Ser2191=)
|
rs1245883548
|
0.00001
|
|
NM_001369.3(DNAH5):c.6575A>G (p.Lys2192Arg)
|
rs1004296804
|
0.00001
|
|
NM_001369.3(DNAH5):c.6579+6dup
|
rs1259303216
|
0.00001
|
|
NM_001369.3(DNAH5):c.6580-20T>G
|
rs1171371561
|
0.00001
|
|
NM_001369.3(DNAH5):c.6588G>A (p.Glu2196=)
|
rs1268685266
|
0.00001
|
|
NM_001369.3(DNAH5):c.660+8C>T
|
rs765818301
|
0.00001
|
|
NM_001369.3(DNAH5):c.661-7T>C
|
rs1777148974
|
0.00001
|
|
NM_001369.3(DNAH5):c.661G>A (p.Val221Met)
|
rs1085307485
|
0.00001
|
|
NM_001369.3(DNAH5):c.6661G>A (p.Glu2221Lys)
|
rs148526079
|
0.00001
|
|
NM_001369.3(DNAH5):c.6666G>T (p.Leu2222=)
|
rs1762463272
|
0.00001
|
|
NM_001369.3(DNAH5):c.6678T>C (p.Ile2226=)
|
rs1310698723
|
0.00001
|
|
NM_001369.3(DNAH5):c.6681T>C (p.Ser2227=)
|
rs1355806912
|
0.00001
|
|
NM_001369.3(DNAH5):c.6687+13A>G
|
rs1455220000
|
0.00001
|
|
NM_001369.3(DNAH5):c.6687+18G>T
|
rs2546853115
|
0.00001
|
|
NM_001369.3(DNAH5):c.6688-12T>G
|
rs879007222
|
0.00001
|
|
NM_001369.3(DNAH5):c.6688-18A>G
|
rs1292875691
|
0.00001
|
|
NM_001369.3(DNAH5):c.6697G>A (p.Ala2233Thr)
|
rs567122870
|
0.00001
|
|
NM_001369.3(DNAH5):c.670C>T (p.Arg224Ter)
|
rs771463510
|
0.00001
|
|
NM_001369.3(DNAH5):c.672A>G (p.Arg224=)
|
rs147445110
|
0.00001
|
|
NM_001369.3(DNAH5):c.6753G>A (p.Thr2251=)
|
rs571519805
|
0.00001
|
|
NM_001369.3(DNAH5):c.6764G>A (p.Arg2255Gln)
|
rs1317585354
|
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.6789C>A (p.Pro2263=)
|
rs756464064
|
0.00001
|
|
NM_001369.3(DNAH5):c.6796G>T (p.Ala2266Ser)
|
rs1023849945
|
0.00001
|
|
NM_001369.3(DNAH5):c.6798T>C (p.Ala2266=)
|
rs1199084520
|
0.00001
|
|
NM_001369.3(DNAH5):c.6801G>C (p.Gly2267=)
|
rs749945616
|
0.00001
|
|
NM_001369.3(DNAH5):c.682A>G (p.Ile228Val)
|
rs1458756176
|
0.00001
|
|
NM_001369.3(DNAH5):c.6839C>T (p.Thr2280Ile)
|
rs763904116
|
0.00001
|
|
NM_001369.3(DNAH5):c.6841+16G>A
|
rs1226823474
|
0.00001
|
|
NM_001369.3(DNAH5):c.6841+7G>T
|
rs760366983
|
0.00001
|
|
NM_001369.3(DNAH5):c.6842-16G>T
|
rs756144788
|
0.00001
|
|
NM_001369.3(DNAH5):c.6864A>G (p.Glu2288=)
|
rs1761626994
|
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.6902T>C (p.Met2301Thr)
|
rs778689094
|
0.00001
|
|
NM_001369.3(DNAH5):c.6906T>C (p.Phe2302=)
|
rs1761617358
|
0.00001
|
|
NM_001369.3(DNAH5):c.691C>T (p.Leu231=)
|
rs1424520916
|
0.00001
|
|
NM_001369.3(DNAH5):c.6932A>C (p.Asp2311Ala)
|
rs754787543
|
0.00001
|
|
NM_001369.3(DNAH5):c.6972A>G (p.Thr2324=)
|
rs563452863
|
0.00001
|
|
NM_001369.3(DNAH5):c.6988+19G>T
|
rs1311505123
|
0.00001
|
|
NM_001369.3(DNAH5):c.6991G>C (p.Glu2331Gln)
|
rs1349321210
|
0.00001
|
|
NM_001369.3(DNAH5):c.7086C>T (p.Ala2362=)
|
rs566336932
|
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.7096C>T (p.Arg2366Trp)
|
rs868151020
|
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.710C>T (p.Pro237Leu)
|
rs757970855
|
0.00001
|
|
NM_001369.3(DNAH5):c.7110T>A (p.Ala2370=)
|
rs1761214730
|
0.00001
|
|
NM_001369.3(DNAH5):c.7113A>C (p.Pro2371=)
|
rs768157030
|
0.00001
|
|
NM_001369.3(DNAH5):c.7131C>T (p.Phe2377=)
|
rs562255121
|
0.00001
|
|
NM_001369.3(DNAH5):c.7151A>G (p.Asn2384Ser)
|
rs777962194
|
0.00001
|
|
NM_001369.3(DNAH5):c.7179T>C (p.Asn2393=)
|
rs766740020
|
0.00001
|
|
NM_001369.3(DNAH5):c.7196G>A (p.Ser2399Asn)
|
rs550329660
|
0.00001
|
|
NM_001369.3(DNAH5):c.7212T>C (p.Asp2404=)
|
rs876657454
|
0.00001
|
|
NM_001369.3(DNAH5):c.7230+7T>C
|
rs759406251
|
0.00001
|
|
NM_001369.3(DNAH5):c.7273C>T (p.Arg2425Cys)
|
rs376707969
|
0.00001
|
|
NM_001369.3(DNAH5):c.7287C>T (p.Thr2429=)
|
rs762808221
|
0.00001
|
|
NM_001369.3(DNAH5):c.7299A>G (p.Pro2433=)
|
rs747463097
|
0.00001
|
|
NM_001369.3(DNAH5):c.7344G>A (p.Glu2448=)
|
rs766413623
|
0.00001
|
|
NM_001369.3(DNAH5):c.7353G>A (p.Glu2451=)
|
rs763042050
|
0.00001
|
|
NM_001369.3(DNAH5):c.7368A>G (p.Thr2456=)
|
rs1217175160
|
0.00001
|
|
NM_001369.3(DNAH5):c.7380C>T (p.Asn2460=)
|
rs762052067
|
0.00001
|
|
NM_001369.3(DNAH5):c.7406A>C (p.Lys2469Thr)
|
rs1760732904
|
0.00001
|
|
NM_001369.3(DNAH5):c.7407+10T>C
|
rs1413734781
|
0.00001
|
|
NM_001369.3(DNAH5):c.7408-17G>A
|
rs1446765769
|
0.00001
|
|
NM_001369.3(DNAH5):c.7408-20A>G
|
rs1331418125
|
0.00001
|
|
NM_001369.3(DNAH5):c.7408-4T>C
|
rs1388754784
|
0.00001
|
|
NM_001369.3(DNAH5):c.7419G>C (p.Gly2473=)
|
rs1561320276
|
0.00001
|
|
NM_001369.3(DNAH5):c.7445G>A (p.Arg2482Gln)
|
rs764212128
|
0.00001
|
|
NM_001369.3(DNAH5):c.7449G>T (p.Leu2483=)
|
rs886059974
|
0.00001
|
|
NM_001369.3(DNAH5):c.7455G>A (p.Val2485=)
|
rs543051361
|
0.00001
|
|
NM_001369.3(DNAH5):c.7461G>A (p.Ala2487=)
|
rs1383118374
|
0.00001
|
|
NM_001369.3(DNAH5):c.7482G>C (p.Ala2494=)
|
rs1760419989
|
0.00001
|
|
NM_001369.3(DNAH5):c.7484C>T (p.Ala2495Val)
|
rs768364281
|
0.00001
|
|
NM_001369.3(DNAH5):c.7503G>T (p.Arg2501=)
|
rs749995346
|
0.00001
|
|
NM_001369.3(DNAH5):c.7515G>A (p.Glu2505=)
|
rs1032671138
|
0.00001
|
|
NM_001369.3(DNAH5):c.7518C>T (p.Leu2506=)
|
rs1363845512
|
0.00001
|
|
NM_001369.3(DNAH5):c.7532G>C (p.Arg2511Pro)
|
rs1391746135
|
0.00001
|
|
NM_001369.3(DNAH5):c.7537A>T (p.Thr2513Ser)
|
rs376433526
|
0.00001
|
|
NM_001369.3(DNAH5):c.7539A>G (p.Thr2513=)
|
rs760847732
|
0.00001
|
|
NM_001369.3(DNAH5):c.7541G>T (p.Gly2514Val)
|
rs752940121
|
0.00001
|
|
NM_001369.3(DNAH5):c.7545G>A (p.Thr2515=)
|
rs1344759999
|
0.00001
|
|
NM_001369.3(DNAH5):c.7557G>A (p.Pro2519=)
|
rs1277087280
|
0.00001
|
|
NM_001369.3(DNAH5):c.7559C>T (p.Pro2520Leu)
|
rs1234844527
|
0.00001
|
|
NM_001369.3(DNAH5):c.7566G>A (p.Ala2522=)
|
rs774555838
|
0.00001
|
|
NM_001369.3(DNAH5):c.7568G>A (p.Gly2523Glu)
|
rs1428867419
|
0.00001
|
|
NM_001369.3(DNAH5):c.7569G>A (p.Gly2523=)
|
rs986872979
|
0.00001
|
|
NM_001369.3(DNAH5):c.7571C>T (p.Pro2524Leu)
|
rs369824303
|
0.00001
|
|
NM_001369.3(DNAH5):c.7573G>A (p.Gly2525Arg)
|
rs771328747
|
0.00001
|
|
NM_001369.3(DNAH5):c.7575G>C (p.Gly2525=)
|
rs369958239
|
0.00001
|
|
NM_001369.3(DNAH5):c.7583C>T (p.Ala2528Val)
|
rs1400861231
|
0.00001
|
|
NM_001369.3(DNAH5):c.7596T>C (p.Tyr2532=)
|
rs920106420
|
0.00001
|
|
NM_001369.3(DNAH5):c.7609+15C>G
|
rs771889837
|
0.00001
|
|
NM_001369.3(DNAH5):c.7609+17G>A
|
rs926266585
|
0.00001
|
|
NM_001369.3(DNAH5):c.7609+18T>A
|
rs1208660174
|
0.00001
|
|
NM_001369.3(DNAH5):c.7610-11G>C
|
rs1437140414
|
0.00001
|
|
NM_001369.3(DNAH5):c.7610-8C>T
|
rs748798656
|
0.00001
|
|
NM_001369.3(DNAH5):c.7619C>T (p.Thr2540Met)
|
rs144428526
|
0.00001
|
|
NM_001369.3(DNAH5):c.762G>A (p.Glu254=)
|
rs775558528
|
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.7634G>A (p.Arg2545His)
|
rs139348927
|
0.00001
|
|
NM_001369.3(DNAH5):c.7698T>C (p.Asn2566=)
|
rs542422452
|
0.00001
|
|
NM_001369.3(DNAH5):c.7734C>T (p.Thr2578=)
|
rs1222953554
|
0.00001
|
|
NM_001369.3(DNAH5):c.7752+11T>C
|
rs1173390408
|
0.00001
|
|
NM_001369.3(DNAH5):c.7767T>C (p.Ile2589=)
|
rs772272015
|
0.00001
|
|
NM_001369.3(DNAH5):c.7774C>T (p.Gln2592Ter)
|
rs200922851
|
0.00001
|
|
NM_001369.3(DNAH5):c.7796T>C (p.Ile2599Thr)
|
rs2546793988
|
0.00001
|
|
NM_001369.3(DNAH5):c.7800T>G (p.Ile2600Met)
|
rs369225476
|
0.00001
|
|
NM_001369.3(DNAH5):c.7834C>T (p.His2612Tyr)
|
rs1211787821
|
0.00001
|
|
NM_001369.3(DNAH5):c.7836C>T (p.His2612=)
|
rs1209930398
|
0.00001
|
|
NM_001369.3(DNAH5):c.7878G>C (p.Leu2626=)
|
rs761281232
|
0.00001
|
|
NM_001369.3(DNAH5):c.7887+16T>A
|
rs1759818770
|
0.00001
|
|
NM_001369.3(DNAH5):c.7887+7G>C
|
rs775316918
|
0.00001
|
|
NM_001369.3(DNAH5):c.7888-10T>G
|
rs1402791029
|
0.00001
|
|
NM_001369.3(DNAH5):c.7888-2A>G
|
rs1230911299
|
0.00001
|
|
NM_001369.3(DNAH5):c.7888-5C>A
|
rs760613466
|
0.00001
|
|
NM_001369.3(DNAH5):c.7888-6T>C
|
rs763546052
|
0.00001
|
|
NM_001369.3(DNAH5):c.7915C>T (p.Arg2639Ter)
|
rs375053470
|
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.7971T>C (p.Asp2657=)
|
rs1757438475
|
0.00001
|
|
NM_001369.3(DNAH5):c.798+18A>C
|
rs745331986
|
0.00001
|
|
NM_001369.3(DNAH5):c.799-11C>T
|
rs371868451
|
0.00001
|
|
NM_001369.3(DNAH5):c.8005G>T (p.Asp2669Tyr)
|
rs773280167
|
0.00001
|
|
NM_001369.3(DNAH5):c.8010+19G>A
|
rs758668636
|
0.00001
|
|
NM_001369.3(DNAH5):c.8010+3A>G
|
rs748171209
|
0.00001
|
|
NM_001369.3(DNAH5):c.8011-9C>T
|
rs1757386416
|
0.00001
|
|
NM_001369.3(DNAH5):c.8016G>A (p.Thr2672=)
|
rs112594597
|
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.8043A>G (p.Glu2681=)
|
rs1468245529
|
0.00001
|
|
NM_001369.3(DNAH5):c.8046A>G (p.Gln2682=)
|
rs1235029526
|
0.00001
|
|
NM_001369.3(DNAH5):c.8058T>C (p.Tyr2686=)
|
rs1757372234
|
0.00001
|
|
NM_001369.3(DNAH5):c.8070G>A (p.Lys2690=)
|
rs751151960
|
0.00001
|
|
NM_001369.3(DNAH5):c.8082C>T (p.Phe2694=)
|
rs750126677
|
0.00001
|
|
NM_001369.3(DNAH5):c.8091C>T (p.Ile2697=)
|
rs754038916
|
0.00001
|
|
NM_001369.3(DNAH5):c.8126C>T (p.Pro2709Leu)
|
rs377639334
|
0.00001
|
|
NM_001369.3(DNAH5):c.8149C>T (p.Pro2717Ser)
|
rs779628660
|
0.00001
|
|
NM_001369.3(DNAH5):c.8168A>G (p.Gln2723Arg)
|
rs201935354
|
0.00001
|
|
NM_001369.3(DNAH5):c.8170T>C (p.Phe2724Leu)
|
rs753702337
|
0.00001
|
|
NM_001369.3(DNAH5):c.8181T>C (p.Phe2727=)
|
rs2546742931
|
0.00001
|
|
NM_001369.3(DNAH5):c.8189C>T (p.Thr2730Met)
|
rs1161099550
|
0.00001
|
|
NM_001369.3(DNAH5):c.8224+17T>G
|
rs774820328
|
0.00001
|
|
NM_001369.3(DNAH5):c.8224+5A>G
|
rs1757333412
|
0.00001
|
|
NM_001369.3(DNAH5):c.8225-18T>C
|
rs752988712
|
0.00001
|
|
NM_001369.3(DNAH5):c.8238A>G (p.Val2746=)
|
rs1340256044
|
0.00001
|
|
NM_001369.3(DNAH5):c.8256G>C (p.Gln2752His)
|
rs1342829642
|
0.00001
|
|
NM_001369.3(DNAH5):c.828G>A (p.Lys276=)
|
rs1183625294
|
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.8315G>A (p.Arg2772Gln)
|
rs755210201
|
0.00001
|
|
NM_001369.3(DNAH5):c.831A>G (p.Glu277=)
|
rs1481782747
|
0.00001
|
|
NM_001369.3(DNAH5):c.832del (p.Ala278fs)
|
rs727502977
|
0.00001
|
|
NM_001369.3(DNAH5):c.8332A>C (p.Lys2778Gln)
|
rs750987249
|
0.00001
|
|
NM_001369.3(DNAH5):c.8333A>G (p.Lys2778Arg)
|
rs1325554159
|
0.00001
|
|
NM_001369.3(DNAH5):c.834G>A (p.Ala278=)
|
rs761192750
|
0.00001
|
|
NM_001369.3(DNAH5):c.8353C>T (p.Pro2785Ser)
|
rs1167219863
|
0.00001
|
|
NM_001369.3(DNAH5):c.837T>C (p.Asp279=)
|
rs2547144896
|
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.8418C>T (p.Asn2806=)
|
rs769684045
|
0.00001
|
|
NM_001369.3(DNAH5):c.8434A>G (p.Ile2812Val)
|
rs768275043
|
0.00001
|
|
NM_001369.3(DNAH5):c.843T>C (p.Val281=)
|
rs1222842818
|
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.8483G>A (p.Arg2828His)
|
rs749784825
|
0.00001
|
|
NM_001369.3(DNAH5):c.8497C>T (p.Arg2833Cys)
|
rs766481283
|
0.00001
|
|
NM_001369.3(DNAH5):c.8498G>A (p.Arg2833His)
|
rs753130398
|
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.8517T>A (p.Asp2839Glu)
|
rs1318152994
|
0.00001
|
|
NM_001369.3(DNAH5):c.8537C>T (p.Ala2846Val)
|
rs200457834
|
0.00001
|
|
NM_001369.3(DNAH5):c.854C>T (p.Ala285Val)
|
rs748080642
|
0.00001
|
|
NM_001369.3(DNAH5):c.855G>A (p.Ala285=)
|
rs931507563
|
0.00001
|
|
NM_001369.3(DNAH5):c.8564T>C (p.Phe2855Ser)
|
rs1181279694
|
0.00001
|
|
NM_001369.3(DNAH5):c.8566G>A (p.Gly2856Ser)
|
rs761759916
|
0.00001
|
|
NM_001369.3(DNAH5):c.860T>A (p.Leu287Gln)
|
rs1177184350
|
0.00001
|
|
NM_001369.3(DNAH5):c.8647+9T>C
|
rs750094609
|
0.00001
|
|
NM_001369.3(DNAH5):c.8648-13T>C
|
rs774408275
|
0.00001
|
|
NM_001369.3(DNAH5):c.8648-4A>G
|
rs373518709
|
0.00001
|
|
NM_001369.3(DNAH5):c.8648-7A>G
|
rs375676172
|
0.00001
|
|
NM_001369.3(DNAH5):c.8673T>C (p.Ala2891=)
|
rs773352017
|
0.00001
|
|
NM_001369.3(DNAH5):c.867C>T (p.His289=)
|
rs1302569475
|
0.00001
|
|
NM_001369.3(DNAH5):c.8682T>C (p.Pro2894=)
|
rs761409642
|
0.00001
|
|
NM_001369.3(DNAH5):c.8685A>G (p.Lys2895=)
|
rs553405333
|
0.00001
|
|
NM_001369.3(DNAH5):c.8686A>G (p.Ile2896Val)
|
rs781484224
|
0.00001
|
|
NM_001369.3(DNAH5):c.8697A>G (p.Pro2899=)
|
rs1376774959
|
0.00001
|
|
NM_001369.3(DNAH5):c.8698A>G (p.Ile2900Val)
|
rs747438706
|
0.00001
|
|
NM_001369.3(DNAH5):c.8703A>G (p.Glu2901=)
|
rs1452715362
|
0.00001
|
|
NM_001369.3(DNAH5):c.870G>A (p.Trp290Ter)
|
rs916132038
|
0.00001
|
|
NM_001369.3(DNAH5):c.8718A>G (p.Leu2906=)
|
rs756991846
|
0.00001
|
|
NM_001369.3(DNAH5):c.8732A>G (p.Asn2911Ser)
|
rs767607164
|
0.00001
|
|
NM_001369.3(DNAH5):c.8744A>G (p.Gln2915Arg)
|
rs1015446414
|
0.00001
|
|
NM_001369.3(DNAH5):c.8764C>T (p.Arg2922Cys)
|
rs369455386
|
0.00001
|
|
NM_001369.3(DNAH5):c.8769C>T (p.Gly2923=)
|
rs546765121
|
0.00001
|
|
NM_001369.3(DNAH5):c.876A>C (p.Lys292Asn)
|
rs1471915553
|
0.00001
|
|
NM_001369.3(DNAH5):c.8770G>A (p.Ala2924Thr)
|
rs748993870
|
0.00001
|
|
NM_001369.3(DNAH5):c.8777T>C (p.Met2926Thr)
|
rs372071561
|
0.00001
|
|
NM_001369.3(DNAH5):c.8780A>G (p.Asp2927Gly)
|
rs1426649944
|
0.00001
|
|
NM_001369.3(DNAH5):c.8799T>A (p.Asp2933Glu)
|
rs763034399
|
0.00001
|
|
NM_001369.3(DNAH5):c.8803A>G (p.Met2935Val)
|
rs929329118
|
0.00001
|
|
NM_001369.3(DNAH5):c.8811C>T (p.His2937=)
|
rs1269829970
|
0.00001
|
|
NM_001369.3(DNAH5):c.8820+12A>G
|
rs368950394
|
0.00001
|
|
NM_001369.3(DNAH5):c.8820+15C>G
|
rs918192619
|
0.00001
|
|
NM_001369.3(DNAH5):c.8821-4A>G
|
rs746538081
|
0.00001
|
|
NM_001369.3(DNAH5):c.8821-8T>C
|
rs747829743
|
0.00001
|
|
NM_001369.3(DNAH5):c.8823C>A (p.Ile2941=)
|
rs780034079
|
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.8835T>G (p.Ile2945Met)
|
rs1263317922
|
0.00001
|
|
NM_001369.3(DNAH5):c.8836C>T (p.Arg2946Cys)
|
rs150899380
|
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.8874C>T (p.Gly2958=)
|
rs771977539
|
0.00001
|
|
NM_001369.3(DNAH5):c.8880A>C (p.Ser2960=)
|
rs1479801916
|
0.00001
|
|
NM_001369.3(DNAH5):c.8902T>C (p.Leu2968=)
|
rs895300799
|
0.00001
|
|
NM_001369.3(DNAH5):c.8906C>G (p.Ala2969Gly)
|
rs1755004469
|
0.00001
|
|
NM_001369.3(DNAH5):c.892A>G (p.Asn298Asp)
|
rs750422913
|
0.00001
|
|
NM_001369.3(DNAH5):c.8949G>A (p.Thr2983=)
|
rs1006363674
|
0.00001
|
|
NM_001369.3(DNAH5):c.8951+14A>G
|
rs759088047
|
0.00001
|
|
NM_001369.3(DNAH5):c.8951+15C>T
|
rs1489109181
|
0.00001
|
|
NM_001369.3(DNAH5):c.8951+16T>A
|
rs946355581
|
0.00001
|
|
NM_001369.3(DNAH5):c.896A>G (p.Tyr299Cys)
|
rs1324752231
|
0.00001
|
|
NM_001369.3(DNAH5):c.8991T>G (p.Val2997=)
|
rs776985428
|
0.00001
|
|
NM_001369.3(DNAH5):c.8998C>T (p.Arg3000Ter)
|
rs769054713
|
0.00001
|
|
NM_001369.3(DNAH5):c.9012G>A (p.Gln3004=)
|
rs1236100758
|
0.00001
|
|
NM_001369.3(DNAH5):c.9018C>T (p.Gly3006=)
|
rs1754239719
|
0.00001
|
|
NM_001369.3(DNAH5):c.9022G>A (p.Gly3008Arg)
|
rs1348742926
|
0.00001
|
|
NM_001369.3(DNAH5):c.9027C>G (p.Ile3009Met)
|
rs1328912631
|
0.00001
|
|
NM_001369.3(DNAH5):c.9088G>C (p.Val3030Leu)
|
rs772987380
|
0.00001
|
|
NM_001369.3(DNAH5):c.9105+19T>C
|
rs776582784
|
0.00001
|
|
NM_001369.3(DNAH5):c.9105+7G>A
|
rs2546681676
|
0.00001
|
|
NM_001369.3(DNAH5):c.910T>C (p.Leu304=)
|
rs754396098
|
0.00001
|
|
NM_001369.3(DNAH5):c.9111T>C (p.Ser3037=)
|
rs765029802
|
0.00001
|
|
NM_001369.3(DNAH5):c.9117A>G (p.Leu3039=)
|
rs753648161
|
0.00001
|
|
NM_001369.3(DNAH5):c.9171A>G (p.Lys3057=)
|
rs543154987
|
0.00001
|
|
NM_001369.3(DNAH5):c.9192T>C (p.Leu3064=)
|
rs1251504067
|
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.9229C>T (p.Arg3077Trp)
|
rs1426289211
|
0.00001
|
|
NM_001369.3(DNAH5):c.925G>T (p.Val309Leu)
|
rs776025009
|
0.00001
|
|
NM_001369.3(DNAH5):c.9266C>T (p.Ser3089Leu)
|
rs759831156
|
0.00001
|
|
NM_001369.3(DNAH5):c.926T>C (p.Val309Ala)
|
rs1288839892
|
0.00001
|
|
NM_001369.3(DNAH5):c.9286C>T (p.Arg3096Ter)
|
rs868444911
|
0.00001
|
|
NM_001369.3(DNAH5):c.9287G>A (p.Arg3096Gln)
|
rs1388732051
|
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.9321A>G (p.Ser3107=)
|
rs770347405
|
0.00001
|
|
NM_001369.3(DNAH5):c.9346C>T (p.Arg3116Ter)
|
rs1264701182
|
0.00001
|
|
NM_001369.3(DNAH5):c.9347G>A (p.Arg3116Gln)
|
rs745557874
|
0.00001
|
|
NM_001369.3(DNAH5):c.9349T>C (p.Trp3117Arg)
|
rs778479522
|
0.00001
|
|
NM_001369.3(DNAH5):c.935T>G (p.Val312Gly)
|
rs762677340
|
0.00001
|
|
NM_001369.3(DNAH5):c.9373+10G>T
|
rs555164140
|
0.00001
|
|
NM_001369.3(DNAH5):c.9373+8T>A
|
rs573584736
|
0.00001
|
|
NM_001369.3(DNAH5):c.9374-5T>C
|
rs936631893
|
0.00001
|
|
NM_001369.3(DNAH5):c.9379G>T (p.Glu3127Ter)
|
rs758303032
|
0.00001
|
|
NM_001369.3(DNAH5):c.9404T>C (p.Ile3135Thr)
|
rs561495955
|
0.00001
|
|
NM_001369.3(DNAH5):c.9418G>C (p.Glu3140Gln)
|
rs758626238
|
0.00001
|
|
NM_001369.3(DNAH5):c.9427A>T (p.Lys3143Ter)
|
rs765325621
|
0.00001
|
|
NM_001369.3(DNAH5):c.942A>C (p.Ala314=)
|
rs769341512
|
0.00001
|
|
NM_001369.3(DNAH5):c.9477G>A (p.Lys3159=)
|
rs1300247439
|
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.9514C>G (p.His3172Asp)
|
rs758573011
|
0.00001
|
|
NM_001369.3(DNAH5):c.9544A>C (p.Ile3182Leu)
|
rs951528702
|
0.00001
|
|
NM_001369.3(DNAH5):c.9546T>G (p.Ile3182Met)
|
rs761116750
|
0.00001
|
|
NM_001369.3(DNAH5):c.9575A>G (p.Lys3192Arg)
|
rs771825187
|
0.00001
|
|
NM_001369.3(DNAH5):c.9579T>C (p.His3193=)
|
rs139606604
|
0.00001
|
|
NM_001369.3(DNAH5):c.9586G>A (p.Val3196Met)
|
rs369982479
|
0.00001
|
|
NM_001369.3(DNAH5):c.9589C>T (p.Arg3197Trp)
|
rs753913853
|
0.00001
|
|
NM_001369.3(DNAH5):c.9605+20A>G
|
rs768202760
|
0.00001
|
|
NM_001369.3(DNAH5):c.9605+7G>A
|
rs1433603838
|
0.00001
|
|
NM_001369.3(DNAH5):c.9606-1G>A
|
rs1160531469
|
0.00001
|
|
NM_001369.3(DNAH5):c.960G>A (p.Lys320=)
|
rs1343407162
|
0.00001
|
|
NM_001369.3(DNAH5):c.9611A>G (p.Asn3204Ser)
|
rs1438130564
|
0.00001
|
|
NM_001369.3(DNAH5):c.9637del (p.Ala3213fs)
|
rs1305797678
|
0.00001
|
|
NM_001369.3(DNAH5):c.963G>T (p.Ser321=)
|
rs758493084
|
0.00001
|
|
NM_001369.3(DNAH5):c.9645G>A (p.Glu3215=)
|
rs1285452658
|
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.9682del (p.Glu3228fs)
|
rs748168087
|
0.00001
|
|
NM_001369.3(DNAH5):c.9685A>G (p.Lys3229Glu)
|
rs561380021
|
0.00001
|
|
NM_001369.3(DNAH5):c.9694C>T (p.Gln3232Ter)
|
rs369683202
|
0.00001
|
|
NM_001369.3(DNAH5):c.9720+11A>G
|
rs763596138
|
0.00001
|
|
NM_001369.3(DNAH5):c.9720+16C>A
|
rs1753016073
|
0.00001
|
|
NM_001369.3(DNAH5):c.9720+5G>A
|
rs763440781
|
0.00001
|
|
NM_001369.3(DNAH5):c.9721-13T>A
|
rs746152275
|
0.00001
|
|
NM_001369.3(DNAH5):c.975+11A>G
|
rs374516847
|
0.00001
|
|
NM_001369.3(DNAH5):c.975+9C>T
|
rs756706408
|
0.00001
|
|
NM_001369.3(DNAH5):c.976-13C>G
|
rs1193238527
|
0.00001
|
|
NM_001369.3(DNAH5):c.976-9T>C
|
rs1409204466
|
0.00001
|
|
NM_001369.3(DNAH5):c.9760A>C (p.Lys3254Gln)
|
rs765104542
|
0.00001
|
|
NM_001369.3(DNAH5):c.9765C>G (p.Val3255=)
|
rs1752924645
|
0.00001
|
|
NM_001369.3(DNAH5):c.9772G>A (p.Glu3258Lys)
|
rs769058578
|
0.00001
|
|
NM_001369.3(DNAH5):c.9778C>T (p.Gln3260Ter)
|
rs1752923333
|
0.00001
|
|
NM_001369.3(DNAH5):c.9788A>G (p.Lys3263Arg)
|
rs141595747
|
0.00001
|
|
NM_001369.3(DNAH5):c.9823A>G (p.Lys3275Glu)
|
rs1172460177
|
0.00001
|
|
NM_001369.3(DNAH5):c.9825A>G (p.Lys3275=)
|
rs1580139912
|
0.00001
|
|
NM_001369.3(DNAH5):c.9842A>G (p.Glu3281Gly)
|
rs1202143637
|
0.00001
|
|
NM_001369.3(DNAH5):c.9856G>A (p.Ala3286Thr)
|
rs757897932
|
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.9891A>G (p.Ala3297=)
|
rs863224387
|
0.00001
|
|
NM_001369.3(DNAH5):c.9892T>C (p.Leu3298=)
|
rs562778587
|
0.00001
|
|
NM_001369.3(DNAH5):c.9897+1G>C
|
rs914675446
|
0.00001
|
|
NM_001369.3(DNAH5):c.9897+9A>G
|
rs774932799
|
0.00001
|
|
NM_001369.3(DNAH5):c.9898-11T>G
|
rs759602112
|
0.00001
|
|
NM_001369.3(DNAH5):c.9898-19C>T
|
rs1752498960
|
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.9945C>T (p.Pro3315=)
|
rs1468197924
|
0.00001
|
|
NM_001369.3(DNAH5):c.9954C>T (p.Leu3318=)
|
rs751586686
|
0.00001
|
|
NM_001369.3(DNAH5):c.9961C>T (p.Arg3321Trp)
|
rs763063590
|
0.00001
|
|
NM_001369.3(DNAH5):c.9962G>A (p.Arg3321Gln)
|
rs750927507
|
0.00001
|
|
NM_001369.3(DNAH5):c.9963G>T (p.Arg3321=)
|
rs762184401
|
0.00001
|
|
NM_001369.3(DNAH5):c.9980del (p.Leu3327fs)
|
rs1752478598
|
0.00001
|
|
NM_001369.3(DNAH5):c.9984G>T (p.Leu3328=)
|
rs770559422
|
0.00001
|
|
NM_001369.3(DNAH5):c.9987G>A (p.Leu3329=)
|
rs372955295
|
0.00001
|
|
NM_001369.3(DNAH5):c.998G>A (p.Arg333Gln)
|
rs745647908
|
0.00001
|
|
NM_001369.3(DNAH5):c.9999A>G (p.Lys3333=)
|
rs1038607014
|
0.00001
|
|
NM_001372.4(DNAH9):c.1051T>C (p.Ser351Pro)
|
rs770389199
|
0.00001
|
|
NM_001372.4(DNAH9):c.3527T>C (p.Leu1176Pro)
|
rs1343045787
|
0.00001
|
|
NM_001372.4(DNAH9):c.5602C>T (p.Pro1868Ser)
|
rs145930162
|
0.00001
|
|
NM_001378189.1(CFAP57):c.1762C>T (p.Arg588Ter)
|
rs369556067
|
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.208C>G (p.Pro70Ala)
|
rs1468747674
|
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.1111G>A (p.Asp371Asn)
|
rs373202088
|
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.1019+5G>C
|
rs747121305
|
0.00001
|
|
NM_012144.4(DNAI1):c.1020-10T>C
|
rs2132072437
|
0.00001
|
|
NM_012144.4(DNAI1):c.1020-14A>T
|
rs777973486
|
0.00001
|
|
NM_012144.4(DNAI1):c.1020-16A>G
|
rs904324428
|
0.00001
|
|
NM_012144.4(DNAI1):c.1064-19G>A
|
rs765763641
|
0.00001
|
|
NM_012144.4(DNAI1):c.1064-4G>A
|
rs1254460885
|
0.00001
|
|
NM_012144.4(DNAI1):c.1084C>T (p.Arg362Trp)
|
rs147893084
|
0.00001
|
|
NM_012144.4(DNAI1):c.1088G>C (p.Gly363Ala)
|
rs1470058689
|
0.00001
|
|
NM_012144.4(DNAI1):c.108A>G (p.Gly36=)
|
rs774972481
|
0.00001
|
|
NM_012144.4(DNAI1):c.1116C>T (p.Asn372=)
|
rs2492094878
|
0.00001
|
|
NM_012144.4(DNAI1):c.1119C>T (p.Pro373=)
|
rs2492094914
|
0.00001
|
|
NM_012144.4(DNAI1):c.1155C>T (p.Gly385=)
|
rs549401132
|
0.00001
|
|
NM_012144.4(DNAI1):c.1158C>T (p.Val386=)
|
rs1824938563
|
0.00001
|
|
NM_012144.4(DNAI1):c.1176C>T (p.His392=)
|
rs1300176358
|
0.00001
|
|
NM_012144.4(DNAI1):c.1216G>A (p.Gly406Ser)
|
rs769177784
|
0.00001
|
|
NM_012144.4(DNAI1):c.1221C>T (p.Asn407=)
|
rs1368857115
|
0.00001
|
|
NM_012144.4(DNAI1):c.1239C>G (p.Leu413=)
|
rs2132076954
|
0.00001
|
|
NM_012144.4(DNAI1):c.1311+8A>G
|
rs570716480
|
0.00001
|
|
NM_012144.4(DNAI1):c.1312-10G>A
|
rs752862667
|
0.00001
|
|
NM_012144.4(DNAI1):c.1312-2A>G
|
rs1188227820
|
0.00001
|
|
NM_012144.4(DNAI1):c.1312-4T>G
|
rs751375253
|
0.00001
|
|
NM_012144.4(DNAI1):c.1352T>A (p.Phe451Tyr)
|
rs148810969
|
0.00001
|
|
NM_012144.4(DNAI1):c.1358C>T (p.Ser453Phe)
|
rs570528970
|
0.00001
|
|
NM_012144.4(DNAI1):c.1368T>C (p.Ser456=)
|
rs1175634371
|
0.00001
|
|
NM_012144.4(DNAI1):c.1374C>G (p.Gly458=)
|
rs772610592
|
0.00001
|
|
NM_012144.4(DNAI1):c.1384T>G (p.Ser462Ala)
|
rs1437841728
|
0.00001
|
|
NM_012144.4(DNAI1):c.1395C>T (p.Leu465=)
|
rs764446899
|
0.00001
|
|
NM_012144.4(DNAI1):c.139del (p.Ala47fs)
|
rs1824446213
|
0.00001
|
|
NM_012144.4(DNAI1):c.1401+12C>T
|
rs375860857
|
0.00001
|
|
NM_012144.4(DNAI1):c.1402-1G>A
|
rs1587089935
|
0.00001
|
|
NM_012144.4(DNAI1):c.1410G>A (p.Leu470=)
|
rs374506251
|
0.00001
|
|
NM_012144.4(DNAI1):c.1422T>C (p.Asp474=)
|
rs201345286
|
0.00001
|
|
NM_012144.4(DNAI1):c.1431G>A (p.Lys477=)
|
rs1241673274
|
0.00001
|
|
NM_012144.4(DNAI1):c.1432C>T (p.Leu478=)
|
rs1825082891
|
0.00001
|
|
NM_012144.4(DNAI1):c.1440G>A (p.Val480=)
|
rs1186642679
|
0.00001
|
|
NM_012144.4(DNAI1):c.1443A>G (p.Glu481=)
|
rs752149485
|
0.00001
|
|
NM_012144.4(DNAI1):c.1470G>T (p.Gly490=)
|
rs888186483
|
0.00001
|
|
NM_012144.4(DNAI1):c.1489+16C>T
|
rs776411404
|
0.00001
|
|
NM_012144.4(DNAI1):c.1489+8C>A
|
rs547508610
|
0.00001
|
|
NM_012144.4(DNAI1):c.1490-7T>C
|
rs1587090777
|
0.00001
|
|
NM_012144.4(DNAI1):c.1495G>A (p.Gly499Ser)
|
rs1412970451
|
0.00001
|
|
NM_012144.4(DNAI1):c.1497C>T (p.Gly499=)
|
rs1825102669
|
0.00001
|
|
NM_012144.4(DNAI1):c.1530del (p.Asp509_Tyr510insTer)
|
rs751920647
|
0.00001
|
|
NM_012144.4(DNAI1):c.1551G>A (p.Glu517=)
|
rs751010917
|
0.00001
|
|
NM_012144.4(DNAI1):c.1569+10C>T
|
rs1168786289
|
0.00001
|
|
NM_012144.4(DNAI1):c.1569+14G>T
|
rs373207465
|
0.00001
|
|
NM_012144.4(DNAI1):c.1569+15T>C
|
rs752901354
|
0.00001
|
|
NM_012144.4(DNAI1):c.1569+1G>T
|
rs1465404366
|
0.00001
|
|
NM_012144.4(DNAI1):c.1570-17G>A
|
rs759950470
|
0.00001
|
|
NM_012144.4(DNAI1):c.1570-20C>T
|
rs766827825
|
0.00001
|
|
NM_012144.4(DNAI1):c.1570-4C>A
|
rs1435209761
|
0.00001
|
|
NM_012144.4(DNAI1):c.1570-6G>A
|
rs370622070
|
0.00001
|
|
NM_012144.4(DNAI1):c.1587C>T (p.Ser529=)
|
rs1204149839
|
0.00001
|
|
NM_012144.4(DNAI1):c.1596C>T (p.Phe532=)
|
rs1384757596
|
0.00001
|
|
NM_012144.4(DNAI1):c.1603A>G (p.Thr535Ala)
|
rs904725096
|
0.00001
|
|
NM_012144.4(DNAI1):c.1607A>G (p.Tyr536Cys)
|
rs144611423
|
0.00001
|
|
NM_012144.4(DNAI1):c.1614C>A (p.Ala538=)
|
rs1201989652
|
0.00001
|
|
NM_012144.4(DNAI1):c.1636G>A (p.Val546Met)
|
rs1013728699
|
0.00001
|
|
NM_012144.4(DNAI1):c.1638G>A (p.Val546=)
|
rs1825132822
|
0.00001
|
|
NM_012144.4(DNAI1):c.1643G>A (p.Trp548Ter)
|
rs1024654594
|
0.00001
|
|
NM_012144.4(DNAI1):c.164T>C (p.Leu55Pro)
|
rs754149521
|
0.00001
|
|
NM_012144.4(DNAI1):c.1650A>C (p.Pro550=)
|
rs751744463
|
0.00001
|
|
NM_012144.4(DNAI1):c.1665C>T (p.Val555=)
|
rs147469181
|
0.00001
|
|
NM_012144.4(DNAI1):c.1667T>C (p.Phe556Ser)
|
rs1554691490
|
0.00001
|
|
NM_012144.4(DNAI1):c.1677C>T (p.Cys559=)
|
rs1379578270
|
0.00001
|
|
NM_012144.4(DNAI1):c.1684G>A (p.Asp562Asn)
|
rs1371519471
|
0.00001
|
|
NM_012144.4(DNAI1):c.1692A>G (p.Thr564=)
|
rs778444720
|
0.00001
|
|
NM_012144.4(DNAI1):c.169T>C (p.Leu57=)
|
rs779175158
|
0.00001
|
|
NM_012144.4(DNAI1):c.1710C>T (p.His570=)
|
rs746472041
|
0.00001
|
|
NM_012144.4(DNAI1):c.1711A>G (p.Thr571Ala)
|
rs1206542308
|
0.00001
|
|
NM_012144.4(DNAI1):c.1713C>T (p.Thr571=)
|
rs770312736
|
0.00001
|
|
NM_012144.4(DNAI1):c.1718+20C>T
|
rs532993211
|
0.00001
|
|
NM_012144.4(DNAI1):c.1719-11C>T
|
rs774758389
|
0.00001
|
|
NM_012144.4(DNAI1):c.1719-14C>T
|
rs1248881804
|
0.00001
|
|
NM_012144.4(DNAI1):c.1719-18C>T
|
rs2492127242
|
0.00001
|
|
NM_012144.4(DNAI1):c.1719-9C>T
|
rs974583244
|
0.00001
|
|
NM_012144.4(DNAI1):c.1722C>T (p.Thr574=)
|
rs548602580
|
0.00001
|
|
NM_012144.4(DNAI1):c.1725G>A (p.Pro575=)
|
rs772459151
|
0.00001
|
|
NM_012144.4(DNAI1):c.1736A>G (p.Tyr579Cys)
|
rs760852851
|
0.00001
|
|
NM_012144.4(DNAI1):c.1767C>A (p.Ala589=)
|
rs1182667330
|
0.00001
|
|
NM_012144.4(DNAI1):c.1772C>T (p.Ala591Val)
|
rs751197523
|
0.00001
|
|
NM_012144.4(DNAI1):c.1779C>T (p.Tyr593=)
|
rs780725587
|
0.00001
|
|
NM_012144.4(DNAI1):c.178G>A (p.Ala60Thr)
|
rs1824447219
|
0.00001
|
|
NM_012144.4(DNAI1):c.1794C>T (p.Phe598=)
|
rs201746512
|
0.00001
|
|
NM_012144.4(DNAI1):c.180+14C>T
|
rs780833485
|
0.00001
|
|
NM_012144.4(DNAI1):c.180+20T>C
|
rs368163057
|
0.00001
|
|
NM_012144.4(DNAI1):c.1818+1G>T
|
rs904790792
|
0.00001
|
|
NM_012144.4(DNAI1):c.1818+20C>T
|
rs770257357
|
0.00001
|
|
NM_012144.4(DNAI1):c.1819-11C>T
|
rs1423356050
|
0.00001
|
|
NM_012144.4(DNAI1):c.1819-19G>A
|
rs1368533559
|
0.00001
|
|
NM_012144.4(DNAI1):c.1825A>G (p.Ile609Val)
|
rs727502978
|
0.00001
|
|
NM_012144.4(DNAI1):c.1887G>A (p.Lys629=)
|
rs1318402837
|
0.00001
|
|
NM_012144.4(DNAI1):c.1887del (p.Asn630fs)
|
rs2132086495
|
0.00001
|
|
NM_012144.4(DNAI1):c.1899C>A (p.Thr633=)
|
rs1424652340
|
0.00001
|
|
NM_012144.4(DNAI1):c.1911C>T (p.Phe637=)
|
rs1825189433
|
0.00001
|
|
NM_012144.4(DNAI1):c.1917C>T (p.Leu639=)
|
rs1825189744
|
0.00001
|
|
NM_012144.4(DNAI1):c.1921C>T (p.His641Tyr)
|
rs747382351
|
0.00001
|
|
NM_012144.4(DNAI1):c.1925C>G (p.Pro642Arg)
|
rs781530640
|
0.00001
|
|
NM_012144.4(DNAI1):c.1941C>T (p.Gly647=)
|
rs1022057422
|
0.00001
|
|
NM_012144.4(DNAI1):c.1968C>T (p.Leu656=)
|
rs772985657
|
0.00001
|
|
NM_012144.4(DNAI1):c.2002-8C>T
|
rs886038585
|
0.00001
|
|
NM_012144.4(DNAI1):c.2019G>A (p.Glu673=)
|
rs576215372
|
0.00001
|
|
NM_012144.4(DNAI1):c.2048C>T (p.Ala683Val)
|
rs535760702
|
0.00001
|
|
NM_012144.4(DNAI1):c.2058C>T (p.Asp686=)
|
rs770774973
|
0.00001
|
|
NM_012144.4(DNAI1):c.2073G>A (p.Leu691=)
|
rs780268562
|
0.00001
|
|
NM_012144.4(DNAI1):c.2074G>C (p.Val692Leu)
|
rs1433242022
|
0.00001
|
|
NM_012144.4(DNAI1):c.230C>T (p.Ala77Val)
|
rs369540171
|
0.00001
|
|
NM_012144.4(DNAI1):c.261+16C>T
|
rs373020025
|
0.00001
|
|
NM_012144.4(DNAI1):c.261+2T>G
|
rs1266767011
|
0.00001
|
|
NM_012144.4(DNAI1):c.261+7C>T
|
rs1824453699
|
0.00001
|
|
NM_012144.4(DNAI1):c.262-4T>C
|
rs761829851
|
0.00001
|
|
NM_012144.4(DNAI1):c.272dup (p.Tyr91Ter)
|
rs1416324075
|
0.00001
|
|
NM_012144.4(DNAI1):c.273T>C (p.Tyr91=)
|
rs529403507
|
0.00001
|
|
NM_012144.4(DNAI1):c.27C>T (p.Pro9=)
|
rs755692713
|
0.00001
|
|
NM_012144.4(DNAI1):c.282T>C (p.Ile94=)
|
rs374541022
|
0.00001
|
|
NM_012144.4(DNAI1):c.288T>C (p.Phe96=)
|
rs201935680
|
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.372C>T (p.Arg124=)
|
rs765026554
|
0.00001
|
|
NM_012144.4(DNAI1):c.389-6A>G
|
rs878854966
|
0.00001
|
|
NM_012144.4(DNAI1):c.389-7T>C
|
rs1824553084
|
0.00001
|
|
NM_012144.4(DNAI1):c.419A>T (p.Glu140Val)
|
rs779195390
|
0.00001
|
|
NM_012144.4(DNAI1):c.45G>T (p.Lys15Asn)
|
rs547949645
|
0.00001
|
|
NM_012144.4(DNAI1):c.465_466del (p.Glu156fs)
|
rs1392661120
|
0.00001
|
|
NM_012144.4(DNAI1):c.48+9C>G
|
rs746021545
|
0.00001
|
|
NM_012144.4(DNAI1):c.498T>G (p.Ala166=)
|
rs1226868648
|
0.00001
|
|
NM_012144.4(DNAI1):c.501+17C>T
|
rs2492033631
|
0.00001
|
|
NM_012144.4(DNAI1):c.501G>T (p.Gly167=)
|
rs767202701
|
0.00001
|
|
NM_012144.4(DNAI1):c.518C>T (p.Thr173Ile)
|
rs1400236913
|
0.00001
|
|
NM_012144.4(DNAI1):c.530T>A (p.Leu177Ter)
|
rs749302505
|
0.00001
|
|
NM_012144.4(DNAI1):c.550A>G (p.Lys184Glu)
|
rs1236356655
|
0.00001
|
|
NM_012144.4(DNAI1):c.591G>A (p.Arg197=)
|
rs775975599
|
0.00001
|
|
NM_012144.4(DNAI1):c.598C>T (p.Gln200Ter)
|
rs763505357
|
0.00001
|
|
NM_012144.4(DNAI1):c.60A>C (p.Ile20=)
|
rs561908091
|
0.00001
|
|
NM_012144.4(DNAI1):c.619C>T (p.Arg207Trp)
|
rs749119217
|
0.00001
|
|
NM_012144.4(DNAI1):c.622-14G>A
|
rs776302159
|
0.00001
|
|
NM_012144.4(DNAI1):c.622-20C>G
|
rs41274851
|
0.00001
|
|
NM_012144.4(DNAI1):c.622-6C>T
|
rs1416045438
|
0.00001
|
|
NM_012144.4(DNAI1):c.628G>C (p.Glu210Gln)
|
rs137937295
|
0.00001
|
|
NM_012144.4(DNAI1):c.636G>A (p.Gln212=)
|
rs758269785
|
0.00001
|
|
NM_012144.4(DNAI1):c.676A>C (p.Asn226His)
|
rs769349211
|
0.00001
|
|
NM_012144.4(DNAI1):c.681+1G>A
|
rs532919927
|
0.00001
|
|
NM_012144.4(DNAI1):c.681+7C>A
|
rs200424920
|
0.00001
|
|
NM_012144.4(DNAI1):c.682-11C>T
|
rs186333447
|
0.00001
|
|
NM_012144.4(DNAI1):c.682-12A>G
|
rs755730248
|
0.00001
|
|
NM_012144.4(DNAI1):c.682-18T>C
|
rs549279182
|
0.00001
|
|
NM_012144.4(DNAI1):c.697G>A (p.Ala233Thr)
|
rs747538328
|
0.00001
|
|
NM_012144.4(DNAI1):c.702T>C (p.Tyr234=)
|
rs914390053
|
0.00001
|
|
NM_012144.4(DNAI1):c.708G>A (p.Glu236=)
|
rs765581497
|
0.00001
|
|
NM_012144.4(DNAI1):c.727A>G (p.Lys243Glu)
|
rs775818668
|
0.00001
|
|
NM_012144.4(DNAI1):c.728A>C (p.Lys243Thr)
|
rs1824645344
|
0.00001
|
|
NM_012144.4(DNAI1):c.783G>A (p.Met261Ile)
|
rs1299113119
|
0.00001
|
|
NM_012144.4(DNAI1):c.788T>C (p.Met263Thr)
|
rs1228318421
|
0.00001
|
|
NM_012144.4(DNAI1):c.81+11A>G
|
rs1824414748
|
0.00001
|
|
NM_012144.4(DNAI1):c.81+12G>C
|
rs776102304
|
0.00001
|
|
NM_012144.4(DNAI1):c.81+17_81+18dup
|
rs779274308
|
0.00001
|
|
NM_012144.4(DNAI1):c.81+20T>C
|
rs572257884
|
0.00001
|
|
NM_012144.4(DNAI1):c.810G>A (p.Glu270=)
|
rs200945732
|
0.00001
|
|
NM_012144.4(DNAI1):c.816+18A>G
|
rs1156597822
|
0.00001
|
|
NM_012144.4(DNAI1):c.825T>C (p.Asp275=)
|
rs778338222
|
0.00001
|
|
NM_012144.4(DNAI1):c.82G>T (p.Asp28Tyr)
|
rs1484370915
|
0.00001
|
|
NM_012144.4(DNAI1):c.845C>A (p.Ala282Asp)
|
rs1367711266
|
0.00001
|
|
NM_012144.4(DNAI1):c.859G>T (p.Glu287Ter)
|
rs1290572246
|
0.00001
|
|
NM_012144.4(DNAI1):c.872A>G (p.Asn291Ser)
|
rs1824742637
|
0.00001
|
|
NM_012144.4(DNAI1):c.902-17G>T
|
rs1207331012
|
0.00001
|
|
NM_012144.4(DNAI1):c.902-8T>C
|
rs755259202
|
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_012144.4(DNAI1):c.980A>T (p.Asn327Ile)
|
rs201547687
|
0.00001
|
|
NM_012144.4(DNAI1):c.995G>A (p.Arg332His)
|
rs766941804
|
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_015512.5(DNAH1):c.10664C>T (p.Ser3555Leu)
|
rs369548008
|
0.00001
|
|
NM_015512.5(DNAH1):c.11376C>A (p.Asn3792Lys)
|
rs768178830
|
0.00001
|
|
NM_015512.5(DNAH1):c.12426C>G (p.Ile4142Met)
|
rs1374164718
|
0.00001
|
|
NM_015512.5(DNAH1):c.409G>A (p.Gly137Arg)
|
rs770952001
|
0.00001
|
|
NM_015512.5(DNAH1):c.4702A>G (p.Thr1568Ala)
|
rs753046775
|
0.00001
|
|
NM_015512.5(DNAH1):c.8713A>G (p.Ile2905Val)
|
rs199519687
|
0.00001
|
|
NM_015896.4(ZMYND10):c.1000-20T>C
|
rs1050210196
|
0.00001
|
|
NM_015896.4(ZMYND10):c.1018C>T (p.Arg340Trp)
|
rs748003863
|
0.00001
|
|
NM_015896.4(ZMYND10):c.1086C>T (p.Ser362=)
|
rs1158414983
|
0.00001
|
|
NM_015896.4(ZMYND10):c.1089C>G (p.Pro363=)
|
rs772974636
|
0.00001
|
|
NM_015896.4(ZMYND10):c.1096C>T (p.Gln366Ter)
|
rs761505231
|
0.00001
|
|
NM_015896.4(ZMYND10):c.1107G>T (p.Arg369=)
|
rs1703388579
|
0.00001
|
|
NM_015896.4(ZMYND10):c.1118G>A (p.Arg373Gln)
|
rs373018717
|
0.00001
|
|
NM_015896.4(ZMYND10):c.1122-16C>T
|
rs767209338
|
0.00001
|
|
NM_015896.4(ZMYND10):c.1140G>A (p.Arg380=)
|
rs755542699
|
0.00001
|
|
NM_015896.4(ZMYND10):c.1168G>A (p.Glu390Lys)
|
rs753509882
|
0.00001
|
|
NM_015896.4(ZMYND10):c.1172G>A (p.Arg391Gln)
|
rs2109355008
|
0.00001
|
|
NM_015896.4(ZMYND10):c.120G>A (p.Glu40=)
|
rs779433836
|
0.00001
|
|
NM_015896.4(ZMYND10):c.1211G>A (p.Arg404His)
|
rs781516139
|
0.00001
|
|
NM_015896.4(ZMYND10):c.1238A>G (p.Tyr413Cys)
|
rs763739603
|
0.00001
|
|
NM_015896.4(ZMYND10):c.1247+18C>A
|
rs1209392966
|
0.00001
|
|
NM_015896.4(ZMYND10):c.1317C>T (p.Ala439=)
|
rs762811169
|
0.00001
|
|
NM_015896.4(ZMYND10):c.183_187del (p.Leu62fs)
|
rs1415036829
|
0.00001
|
|
NM_015896.4(ZMYND10):c.20T>C (p.Leu7Pro)
|
rs1365093953
|
0.00001
|
|
NM_015896.4(ZMYND10):c.246G>A (p.Lys82=)
|
rs767736273
|
0.00001
|
|
NM_015896.4(ZMYND10):c.297C>T (p.Asn99=)
|
rs779503041
|
0.00001
|
|
NM_015896.4(ZMYND10):c.318G>A (p.Val106=)
|
rs1559851686
|
0.00001
|
|
NM_015896.4(ZMYND10):c.319-9A>G
|
rs369890206
|
0.00001
|
|
NM_015896.4(ZMYND10):c.367C>T (p.His123Tyr)
|
rs753152960
|
0.00001
|
|
NM_015896.4(ZMYND10):c.44T>G (p.Leu15Arg)
|
rs1703519203
|
0.00001
|
|
NM_015896.4(ZMYND10):c.495C>T (p.Asp165=)
|
rs769514679
|
0.00001
|
|
NM_015896.4(ZMYND10):c.550G>A (p.Ala184Thr)
|
rs771849995
|
0.00001
|
|
NM_015896.4(ZMYND10):c.551C>T (p.Ala184Val)
|
rs1182616344
|
0.00001
|
|
NM_015896.4(ZMYND10):c.575G>A (p.Arg192His)
|
rs749419715
|
0.00001
|
|
NM_015896.4(ZMYND10):c.599+11C>T
|
rs200017231
|
0.00001
|
|
NM_015896.4(ZMYND10):c.600-15C>T
|
rs774249609
|
0.00001
|
|
NM_015896.4(ZMYND10):c.621C>T (p.Ser207=)
|
rs777911817
|
0.00001
|
|
NM_015896.4(ZMYND10):c.625A>G (p.Met209Val)
|
rs781368194
|
0.00001
|
|
NM_015896.4(ZMYND10):c.674A>G (p.His225Arg)
|
rs1207885001
|
0.00001
|
|
NM_015896.4(ZMYND10):c.700+14C>G
|
rs1362865069
|
0.00001
|
|
NM_015896.4(ZMYND10):c.701-18G>A
|
rs373727095
|
0.00001
|
|
NM_015896.4(ZMYND10):c.708G>A (p.Leu236=)
|
rs1387734363
|
0.00001
|
|
NM_015896.4(ZMYND10):c.722G>A (p.Gly241Asp)
|
rs765212360
|
0.00001
|
|
NM_015896.4(ZMYND10):c.813A>G (p.Leu271=)
|
rs1448399817
|
0.00001
|
|
NM_015896.4(ZMYND10):c.817C>T (p.Pro273Ser)
|
rs768120521
|
0.00001
|
|
NM_015896.4(ZMYND10):c.830C>T (p.Ala277Val)
|
rs1320999179
|
0.00001
|
|
NM_015896.4(ZMYND10):c.83G>A (p.Gly28Asp)
|
rs1703516836
|
0.00001
|
|
NM_015896.4(ZMYND10):c.848G>A (p.Ser283Asn)
|
rs587682566
|
0.00001
|
|
NM_015896.4(ZMYND10):c.873+14C>T
|
rs771228949
|
0.00001
|
|
NM_015896.4(ZMYND10):c.92+11C>T
|
rs1177457234
|
0.00001
|
|
NM_015896.4(ZMYND10):c.92+15T>A
|
rs779556587
|
0.00001
|
|
NM_015896.4(ZMYND10):c.922G>A (p.Ala308Thr)
|
rs762334244
|
0.00001
|
|
NM_015896.4(ZMYND10):c.944C>A (p.Ala315Asp)
|
rs774945751
|
0.00001
|
|
NM_015896.4(ZMYND10):c.967C>T (p.Gln323Ter)
|
rs397515460
|
0.00001
|
|
NM_015896.4(ZMYND10):c.984C>T (p.Asp328=)
|
rs1422227623
|
0.00001
|
|
NM_015896.4(ZMYND10):c.993G>A (p.Leu331=)
|
rs1575553171
|
0.00001
|
|
NM_015896.4(ZMYND10):c.999+4G>A
|
rs1182770589
|
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.1016C>G (p.Pro339Arg)
|
rs1781909318
|
0.00001
|
|
NM_017802.4(DNAAF5):c.1025-8C>T
|
rs200949904
|
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.1050G>T (p.Arg350=)
|
rs1782424011
|
0.00001
|
|
NM_017802.4(DNAAF5):c.105G>A (p.Leu35=)
|
rs1262357841
|
0.00001
|
|
NM_017802.4(DNAAF5):c.1080C>T (p.Ile360=)
|
rs566588440
|
0.00001
|
|
NM_017802.4(DNAAF5):c.1098C>T (p.His366=)
|
rs142951273
|
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.1137G>A (p.Ser379=)
|
rs764842852
|
0.00001
|
|
NM_017802.4(DNAAF5):c.1166A>G (p.His389Arg)
|
rs781605077
|
0.00001
|
|
NM_017802.4(DNAAF5):c.1171G>A (p.Glu391Lys)
|
rs770230973
|
0.00001
|
|
NM_017802.4(DNAAF5):c.1179C>T (p.His393=)
|
rs537994269
|
0.00001
|
|
NM_017802.4(DNAAF5):c.1180G>A (p.Ala394Thr)
|
rs760446732
|
0.00001
|
|
NM_017802.4(DNAAF5):c.120C>G (p.Ala40=)
|
rs1424157506
|
0.00001
|
|
NM_017802.4(DNAAF5):c.1253A>T (p.Gln418Leu)
|
rs753199603
|
0.00001
|
|
NM_017802.4(DNAAF5):c.1258-11C>T
|
rs1463068302
|
0.00001
|
|
NM_017802.4(DNAAF5):c.1263C>T (p.Thr421=)
|
rs1370206544
|
0.00001
|
|
NM_017802.4(DNAAF5):c.1276C>G (p.Leu426Val)
|
rs747227150
|
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.1340C>T (p.Thr447Met)
|
rs369586981
|
0.00001
|
|
NM_017802.4(DNAAF5):c.1342C>T (p.Pro448Ser)
|
rs751643186
|
0.00001
|
|
NM_017802.4(DNAAF5):c.1353C>T (p.Ser451=)
|
rs749145348
|
0.00001
|
|
NM_017802.4(DNAAF5):c.1381C>T (p.Arg461Trp)
|
rs373336873
|
0.00001
|
|
NM_017802.4(DNAAF5):c.1389C>T (p.Cys463=)
|
rs376550852
|
0.00001
|
|
NM_017802.4(DNAAF5):c.141G>T (p.Arg47=)
|
rs1188978283
|
0.00001
|
|
NM_017802.4(DNAAF5):c.1435C>G (p.Leu479Val)
|
rs769427761
|
0.00001
|
|
NM_017802.4(DNAAF5):c.1470+1G>A
|
rs767713588
|
0.00001
|
|
NM_017802.4(DNAAF5):c.1470+9A>G
|
rs1345674669
|
0.00001
|
|
NM_017802.4(DNAAF5):c.1471-14C>G
|
rs765928517
|
0.00001
|
|
NM_017802.4(DNAAF5):c.1471-3C>T
|
rs543219185
|
0.00001
|
|
NM_017802.4(DNAAF5):c.1471-7C>T
|
rs751295814
|
0.00001
|
|
NM_017802.4(DNAAF5):c.1488C>T (p.Arg496=)
|
rs974780301
|
0.00001
|
|
NM_017802.4(DNAAF5):c.1518T>C (p.Ser506=)
|
rs1782653867
|
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.1586T>A (p.Leu529His)
|
rs368098310
|
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.1616C>T (p.Ala539Val)
|
rs1333101328
|
0.00001
|
|
NM_017802.4(DNAAF5):c.1728C>G (p.Asp576Glu)
|
rs1437350828
|
0.00001
|
|
NM_017802.4(DNAAF5):c.172G>A (p.Glu58Lys)
|
rs1781320505
|
0.00001
|
|
NM_017802.4(DNAAF5):c.1735G>A (p.Ala579Thr)
|
rs769804298
|
0.00001
|
|
NM_017802.4(DNAAF5):c.1743G>A (p.Ser581=)
|
rs1232523161
|
0.00001
|
|
NM_017802.4(DNAAF5):c.1745C>T (p.Pro582Leu)
|
rs922202805
|
0.00001
|
|
NM_017802.4(DNAAF5):c.1771G>A (p.Val591Ile)
|
rs754002298
|
0.00001
|
|
NM_017802.4(DNAAF5):c.177G>A (p.Glu59=)
|
rs1781321010
|
0.00001
|
|
NM_017802.4(DNAAF5):c.1784-14G>A
|
rs773482956
|
0.00001
|
|
NM_017802.4(DNAAF5):c.1784-19C>T
|
rs767692356
|
0.00001
|
|
NM_017802.4(DNAAF5):c.1785C>A (p.Gly595=)
|
rs374290121
|
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.1885C>T (p.Leu629=)
|
rs965938560
|
0.00001
|
|
NM_017802.4(DNAAF5):c.1932-15C>T
|
rs764378062
|
0.00001
|
|
NM_017802.4(DNAAF5):c.1965G>A (p.Lys655=)
|
rs777608461
|
0.00001
|
|
NM_017802.4(DNAAF5):c.1997C>T (p.Ala666Val)
|
rs761189541
|
0.00001
|
|
NM_017802.4(DNAAF5):c.19G>A (p.Ala7Thr)
|
rs1457149692
|
0.00001
|
|
NM_017802.4(DNAAF5):c.2016C>A (p.Ala672=)
|
rs1377769635
|
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.2069T>C (p.Leu690Pro)
|
rs761120794
|
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.2167C>T (p.Arg723Cys)
|
rs939008088
|
0.00001
|
|
NM_017802.4(DNAAF5):c.2172T>C (p.Ile724=)
|
rs1373036776
|
0.00001
|
|
NM_017802.4(DNAAF5):c.2176A>G (p.Asn726Asp)
|
rs1046740643
|
0.00001
|
|
NM_017802.4(DNAAF5):c.2177A>C (p.Asn726Thr)
|
rs1332012675
|
0.00001
|
|
NM_017802.4(DNAAF5):c.2178C>T (p.Asn726=)
|
rs886836312
|
0.00001
|
|
NM_017802.4(DNAAF5):c.218G>C (p.Trp73Ser)
|
rs915848808
|
0.00001
|
|
NM_017802.4(DNAAF5):c.2208G>A (p.Thr736=)
|
rs531988909
|
0.00001
|
|
NM_017802.4(DNAAF5):c.2217G>A (p.Glu739=)
|
rs900001039
|
0.00001
|
|
NM_017802.4(DNAAF5):c.2226C>T (p.Ile742=)
|
rs762744998
|
0.00001
|
|
NM_017802.4(DNAAF5):c.2346C>G (p.Tyr782Ter)
|
rs950490534
|
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.2401C>G (p.Pro801Ala)
|
rs995200421
|
0.00001
|
|
NM_017802.4(DNAAF5):c.241T>A (p.Leu81Met)
|
rs1303155172
|
0.00001
|
|
NM_017802.4(DNAAF5):c.2431+11G>A
|
rs764564318
|
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.2475G>A (p.Val825=)
|
rs762526450
|
0.00001
|
|
NM_017802.4(DNAAF5):c.24G>A (p.Glu8=)
|
rs1781307658
|
0.00001
|
|
NM_017802.4(DNAAF5):c.2506C>T (p.Arg836Cys)
|
rs755610202
|
0.00001
|
|
NM_017802.4(DNAAF5):c.2511G>A (p.Ser837=)
|
rs143524894
|
0.00001
|
|
NM_017802.4(DNAAF5):c.2522G>A (p.Cys841Tyr)
|
rs1779121047
|
0.00001
|
|
NM_017802.4(DNAAF5):c.2541T>C (p.His847=)
|
rs910940634
|
0.00001
|
|
NM_017802.4(DNAAF5):c.2546A>C (p.Gln849Pro)
|
rs768265611
|
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.298C>T (p.Leu100=)
|
rs1583467930
|
0.00001
|
|
NM_017802.4(DNAAF5):c.309C>A (p.Gly103=)
|
rs997734153
|
0.00001
|
|
NM_017802.4(DNAAF5):c.324G>C (p.Ala108=)
|
rs1241458505
|
0.00001
|
|
NM_017802.4(DNAAF5):c.333C>G (p.Arg111=)
|
rs1198130055
|
0.00001
|
|
NM_017802.4(DNAAF5):c.351G>A (p.Leu117=)
|
rs1281373797
|
0.00001
|
|
NM_017802.4(DNAAF5):c.384C>G (p.Pro128=)
|
rs2128538410
|
0.00001
|
|
NM_017802.4(DNAAF5):c.387G>A (p.Val129=)
|
rs957096760
|
0.00001
|
|
NM_017802.4(DNAAF5):c.392C>G (p.Ala131Gly)
|
rs1347850043
|
0.00001
|
|
NM_017802.4(DNAAF5):c.420G>C (p.Glu140Asp)
|
rs1439027627
|
0.00001
|
|
NM_017802.4(DNAAF5):c.421C>T (p.Leu141=)
|
rs1583468117
|
0.00001
|
|
NM_017802.4(DNAAF5):c.440A>G (p.Gln147Arg)
|
rs878855038
|
0.00001
|
|
NM_017802.4(DNAAF5):c.474C>T (p.Ala158=)
|
rs909306243
|
0.00001
|
|
NM_017802.4(DNAAF5):c.517T>C (p.Cys173Arg)
|
rs902736696
|
0.00001
|
|
NM_017802.4(DNAAF5):c.51G>A (p.Glu17=)
|
rs911841156
|
0.00001
|
|
NM_017802.4(DNAAF5):c.568G>A (p.Ala190Thr)
|
rs1781361793
|
0.00001
|
|
NM_017802.4(DNAAF5):c.595+15C>T
|
rs1255834653
|
0.00001
|
|
NM_017802.4(DNAAF5):c.596-11C>G
|
rs1781499167
|
0.00001
|
|
NM_017802.4(DNAAF5):c.607A>G (p.Met203Val)
|
rs1194482161
|
0.00001
|
|
NM_017802.4(DNAAF5):c.614C>T (p.Ser205Leu)
|
rs373565354
|
0.00001
|
|
NM_017802.4(DNAAF5):c.63G>C (p.Thr21=)
|
rs1054283683
|
0.00001
|
|
NM_017802.4(DNAAF5):c.643A>T (p.Thr215Ser)
|
rs145219827
|
0.00001
|
|
NM_017802.4(DNAAF5):c.650C>A (p.Ser217Tyr)
|
rs1781502389
|
0.00001
|
|
NM_017802.4(DNAAF5):c.671G>A (p.Arg224His)
|
rs1395390854
|
0.00001
|
|
NM_017802.4(DNAAF5):c.676G>C (p.Ala226Pro)
|
rs780016631
|
0.00001
|
|
NM_017802.4(DNAAF5):c.696C>T (p.Gly232=)
|
rs4398815
|
0.00001
|
|
NM_017802.4(DNAAF5):c.699A>G (p.Ala233=)
|
rs1781504659
|
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.781-4G>A
|
rs1408487084
|
0.00001
|
|
NM_017802.4(DNAAF5):c.781-5del
|
rs777929673
|
0.00001
|
|
NM_017802.4(DNAAF5):c.781-9C>T
|
rs899682066
|
0.00001
|
|
NM_017802.4(DNAAF5):c.79C>G (p.Leu27Val)
|
rs1487987262
|
0.00001
|
|
NM_017802.4(DNAAF5):c.811G>A (p.Gly271Ser)
|
rs764170608
|
0.00001
|
|
NM_017802.4(DNAAF5):c.829C>T (p.Arg277Cys)
|
rs749838774
|
0.00001
|
|
NM_017802.4(DNAAF5):c.836G>A (p.Arg279His)
|
rs978606639
|
0.00001
|
|
NM_017802.4(DNAAF5):c.865C>T (p.Leu289=)
|
rs927757396
|
0.00001
|
|
NM_017802.4(DNAAF5):c.882C>A (p.Leu294=)
|
rs774499919
|
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_017802.4(DNAAF5):c.905+7G>A
|
rs1263062962
|
0.00001
|
|
NM_017802.4(DNAAF5):c.934G>A (p.Val312Ile)
|
rs762425082
|
0.00001
|
|
NM_017802.4(DNAAF5):c.943C>T (p.Gln315Ter)
|
rs756233808
|
0.00001
|
|
NM_017802.4(DNAAF5):c.960_961del (p.Asn320fs)
|
rs1781905532
|
0.00001
|
|
NM_017950.4(CCDC40):c.1030C>G (p.Leu344Val)
|
rs374337192
|
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.1093G>T (p.Glu365Ter)
|
rs1434356376
|
0.00001
|
|
NM_017950.4(CCDC40):c.1137C>T (p.Ala379=)
|
rs761553150
|
0.00001
|
|
NM_017950.4(CCDC40):c.1150C>T (p.Arg384Cys)
|
rs758068198
|
0.00001
|
|
NM_017950.4(CCDC40):c.1153A>C (p.Lys385Gln)
|
rs1052231640
|
0.00001
|
|
NM_017950.4(CCDC40):c.1160-17C>T
|
rs2037808135
|
0.00001
|
|
NM_017950.4(CCDC40):c.1160-4G>A
|
rs747199219
|
0.00001
|
|
NM_017950.4(CCDC40):c.1160-9G>A
|
rs779328167
|
0.00001
|
|
NM_017950.4(CCDC40):c.1232T>C (p.Met411Thr)
|
rs753785905
|
0.00001
|
|
NM_017950.4(CCDC40):c.1239C>T (p.Asp413=)
|
rs751991087
|
0.00001
|
|
NM_017950.4(CCDC40):c.1240G>A (p.Asp414Asn)
|
rs755164687
|
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.1286G>C (p.Arg429Thr)
|
rs2510295947
|
0.00001
|
|
NM_017950.4(CCDC40):c.12G>C (p.Pro4=)
|
rs1419252985
|
0.00001
|
|
NM_017950.4(CCDC40):c.1305G>A (p.Glu435=)
|
rs558483927
|
0.00001
|
|
NM_017950.4(CCDC40):c.1312A>T (p.Lys438Ter)
|
rs371595543
|
0.00001
|
|
NM_017950.4(CCDC40):c.1413C>A (p.Thr471=)
|
rs2037824553
|
0.00001
|
|
NM_017950.4(CCDC40):c.142G>A (p.Gly48Ser)
|
rs2289526
|
0.00001
|
|
NM_017950.4(CCDC40):c.1441-10T>C
|
rs1449128549
|
0.00001
|
|
NM_017950.4(CCDC40):c.1480C>T (p.Arg494Cys)
|
rs200858130
|
0.00001
|
|
NM_017950.4(CCDC40):c.1481G>A (p.Arg494His)
|
rs200084360
|
0.00001
|
|
NM_017950.4(CCDC40):c.1512G>A (p.Val504=)
|
rs1312465619
|
0.00001
|
|
NM_017950.4(CCDC40):c.1525C>T (p.Arg509Cys)
|
rs749901313
|
0.00001
|
|
NM_017950.4(CCDC40):c.1527C>T (p.Arg509=)
|
rs1245224235
|
0.00001
|
|
NM_017950.4(CCDC40):c.1528G>A (p.Asp510Asn)
|
rs1449822865
|
0.00001
|
|
NM_017950.4(CCDC40):c.1536G>A (p.Ala512=)
|
rs1430373125
|
0.00001
|
|
NM_017950.4(CCDC40):c.1564G>A (p.Gly522Arg)
|
rs764252103
|
0.00001
|
|
NM_017950.4(CCDC40):c.1594G>A (p.Gly532Ser)
|
rs936824026
|
0.00001
|
|
NM_017950.4(CCDC40):c.1602T>A (p.Ile534=)
|
rs1215287683
|
0.00001
|
|
NM_017950.4(CCDC40):c.1603G>A (p.Glu535Lys)
|
rs201164121
|
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.1656G>A (p.Ala552=)
|
rs764448400
|
0.00001
|
|
NM_017950.4(CCDC40):c.1659C>T (p.Ser553=)
|
rs2038452038
|
0.00001
|
|
NM_017950.4(CCDC40):c.1662C>A (p.Ile554=)
|
rs753942872
|
0.00001
|
|
NM_017950.4(CCDC40):c.166G>A (p.Val56Ile)
|
rs2037228215
|
0.00001
|
|
NM_017950.4(CCDC40):c.168C>T (p.Val56=)
|
rs770942016
|
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.1772A>G (p.Gln591Arg)
|
rs1568706447
|
0.00001
|
|
NM_017950.4(CCDC40):c.1804C>A (p.Leu602Met)
|
rs1213836538
|
0.00001
|
|
NM_017950.4(CCDC40):c.1806+5G>A
|
rs530585863
|
0.00001
|
|
NM_017950.4(CCDC40):c.1859G>A (p.Gly620Asp)
|
rs1325923533
|
0.00001
|
|
NM_017950.4(CCDC40):c.1861G>A (p.Glu621Lys)
|
rs752125203
|
0.00001
|
|
NM_017950.4(CCDC40):c.1884G>A (p.Thr628=)
|
rs748572237
|
0.00001
|
|
NM_017950.4(CCDC40):c.1898G>A (p.Arg633Gln)
|
rs759468416
|
0.00001
|
|
NM_017950.4(CCDC40):c.1953G>A (p.Gln651=)
|
rs1267278774
|
0.00001
|
|
NM_017950.4(CCDC40):c.1989+19G>A
|
rs768348648
|
0.00001
|
|
NM_017950.4(CCDC40):c.1989+5G>A
|
rs771945655
|
0.00001
|
|
NM_017950.4(CCDC40):c.2014G>A (p.Gly672Ser)
|
rs769532664
|
0.00001
|
|
NM_017950.4(CCDC40):c.2047C>T (p.His683Tyr)
|
rs773981691
|
0.00001
|
|
NM_017950.4(CCDC40):c.2051C>T (p.Thr684Ile)
|
rs200542971
|
0.00001
|
|
NM_017950.4(CCDC40):c.2071C>T (p.His691Tyr)
|
rs779993312
|
0.00001
|
|
NM_017950.4(CCDC40):c.2116A>G (p.Asn706Asp)
|
rs770751519
|
0.00001
|
|
NM_017950.4(CCDC40):c.2118C>T (p.Asn706=)
|
rs773715618
|
0.00001
|
|
NM_017950.4(CCDC40):c.2121G>C (p.Glu707Asp)
|
rs981844099
|
0.00001
|
|
NM_017950.4(CCDC40):c.2124C>T (p.Leu708=)
|
rs1598538668
|
0.00001
|
|
NM_017950.4(CCDC40):c.2152C>T (p.Arg718Trp)
|
rs368063104
|
0.00001
|
|
NM_017950.4(CCDC40):c.2169C>T (p.Ile723=)
|
rs200641382
|
0.00001
|
|
NM_017950.4(CCDC40):c.2185C>T (p.Leu729Phe)
|
rs2038546542
|
0.00001
|
|
NM_017950.4(CCDC40):c.2191A>G (p.Asn731Asp)
|
rs749147749
|
0.00001
|
|
NM_017950.4(CCDC40):c.2216G>A (p.Arg739Gln)
|
rs774558527
|
0.00001
|
|
NM_017950.4(CCDC40):c.2236-8C>T
|
rs749595692
|
0.00001
|
|
NM_017950.4(CCDC40):c.2310G>A (p.Ala770=)
|
rs376945782
|
0.00001
|
|
NM_017950.4(CCDC40):c.2322G>A (p.Gln774=)
|
rs1327058477
|
0.00001
|
|
NM_017950.4(CCDC40):c.232G>A (p.Glu78Lys)
|
rs1568667170
|
0.00001
|
|
NM_017950.4(CCDC40):c.2440C>T (p.Arg814Ter)
|
rs747233125
|
0.00001
|
|
NM_017950.4(CCDC40):c.2449+12C>T
|
rs570150223
|
0.00001
|
|
NM_017950.4(CCDC40):c.2449+13G>A
|
rs370873328
|
0.00001
|
|
NM_017950.4(CCDC40):c.2449+9C>T
|
rs761821974
|
0.00001
|
|
NM_017950.4(CCDC40):c.2456T>C (p.Ile819Thr)
|
rs1316337946
|
0.00001
|
|
NM_017950.4(CCDC40):c.2497A>G (p.Met833Val)
|
rs376911979
|
0.00001
|
|
NM_017950.4(CCDC40):c.2507T>C (p.Leu836Pro)
|
rs757581625
|
0.00001
|
|
NM_017950.4(CCDC40):c.2585G>A (p.Arg862Gln)
|
rs755608579
|
0.00001
|
|
NM_017950.4(CCDC40):c.258T>C (p.Tyr86=)
|
rs745925890
|
0.00001
|
|
NM_017950.4(CCDC40):c.2590_2591insAC (p.Thr864fs)
|
rs780516910
|
0.00001
|
|
NM_017950.4(CCDC40):c.2592A>G (p.Thr864=)
|
rs767741459
|
0.00001
|
|
NM_017950.4(CCDC40):c.2613G>A (p.Ser871=)
|
rs775128843
|
0.00001
|
|
NM_017950.4(CCDC40):c.2619+10T>C
|
rs2038618973
|
0.00001
|
|
NM_017950.4(CCDC40):c.2619+16C>T
|
rs2038619027
|
0.00001
|
|
NM_017950.4(CCDC40):c.2619+17G>A
|
rs983342792
|
0.00001
|
|
NM_017950.4(CCDC40):c.2619+19A>G
|
rs1379051584
|
0.00001
|
|
NM_017950.4(CCDC40):c.2619+9G>A
|
rs752961530
|
0.00001
|
|
NM_017950.4(CCDC40):c.2711+11G>T
|
rs1434924240
|
0.00001
|
|
NM_017950.4(CCDC40):c.2724G>A (p.Met908Ile)
|
rs1211135006
|
0.00001
|
|
NM_017950.4(CCDC40):c.2734A>G (p.Lys912Glu)
|
rs756183009
|
0.00001
|
|
NM_017950.4(CCDC40):c.2762G>A (p.Arg921His)
|
rs745319642
|
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.2815G>A (p.Glu939Lys)
|
rs750063649
|
0.00001
|
|
NM_017950.4(CCDC40):c.2823C>G (p.His941Gln)
|
rs751091185
|
0.00001
|
|
NM_017950.4(CCDC40):c.2832+16C>T
|
rs374995456
|
0.00001
|
|
NM_017950.4(CCDC40):c.2832+4A>T
|
rs756602466
|
0.00001
|
|
NM_017950.4(CCDC40):c.2874C>T (p.Ile958=)
|
rs766933359
|
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.29+5G>A
|
rs934195206
|
0.00001
|
|
NM_017950.4(CCDC40):c.29+8G>A
|
rs772706089
|
0.00001
|
|
NM_017950.4(CCDC40):c.2920C>T (p.Gln974Ter)
|
rs977416538
|
0.00001
|
|
NM_017950.4(CCDC40):c.2955G>A (p.Ala985=)
|
rs201511980
|
0.00001
|
|
NM_017950.4(CCDC40):c.30-7A>C
|
rs997695210
|
0.00001
|
|
NM_017950.4(CCDC40):c.3022-6T>C
|
rs2038826320
|
0.00001
|
|
NM_017950.4(CCDC40):c.3097A>T (p.Lys1033Ter)
|
rs863224519
|
0.00001
|
|
NM_017950.4(CCDC40):c.309G>A (p.Pro103=)
|
rs772789603
|
0.00001
|
|
NM_017950.4(CCDC40):c.3129del (p.Phe1044fs)
|
rs1418585908
|
0.00001
|
|
NM_017950.4(CCDC40):c.3142G>A (p.Glu1048Lys)
|
rs997113449
|
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.3175C>T (p.Arg1059Ter)
|
rs1312712049
|
0.00001
|
|
NM_017950.4(CCDC40):c.3180+7G>A
|
rs764901506
|
0.00001
|
|
NM_017950.4(CCDC40):c.3183C>T (p.Asn1061=)
|
rs1567819545
|
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.3240G>A (p.Glu1080=)
|
rs1287325987
|
0.00001
|
|
NM_017950.4(CCDC40):c.3244C>T (p.Arg1082Cys)
|
rs1055443134
|
0.00001
|
|
NM_017950.4(CCDC40):c.3245G>A (p.Arg1082His)
|
rs773033304
|
0.00001
|
|
NM_017950.4(CCDC40):c.3274T>C (p.Ser1092Pro)
|
rs1299508184
|
0.00001
|
|
NM_017950.4(CCDC40):c.327T>C (p.Ala109=)
|
rs1231498140
|
0.00001
|
|
NM_017950.4(CCDC40):c.3290G>A (p.Arg1097His)
|
rs777500902
|
0.00001
|
|
NM_017950.4(CCDC40):c.3291C>T (p.Arg1097=)
|
rs1200604814
|
0.00001
|
|
NM_017950.4(CCDC40):c.3296G>A (p.Arg1099His)
|
rs759177015
|
0.00001
|
|
NM_017950.4(CCDC40):c.3322G>A (p.Ala1108Thr)
|
rs763389968
|
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.408T>C (p.Ala136=)
|
rs759112277
|
0.00001
|
|
NM_017950.4(CCDC40):c.414C>T (p.Leu138=)
|
rs972409552
|
0.00001
|
|
NM_017950.4(CCDC40):c.415C>T (p.Gln139Ter)
|
rs764551914
|
0.00001
|
|
NM_017950.4(CCDC40):c.550T>C (p.Leu184=)
|
rs755069671
|
0.00001
|
|
NM_017950.4(CCDC40):c.553-10C>G
|
rs778679371
|
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.624C>T (p.His208=)
|
rs370581662
|
0.00001
|
|
NM_017950.4(CCDC40):c.627G>C (p.Gly209=)
|
rs758242176
|
0.00001
|
|
NM_017950.4(CCDC40):c.672G>A (p.Glu224=)
|
rs1443889974
|
0.00001
|
|
NM_017950.4(CCDC40):c.682C>T (p.Pro228Ser)
|
rs878855043
|
0.00001
|
|
NM_017950.4(CCDC40):c.69G>A (p.Lys23=)
|
rs781621599
|
0.00001
|
|
NM_017950.4(CCDC40):c.705C>T (p.His235=)
|
rs564111905
|
0.00001
|
|
NM_017950.4(CCDC40):c.708C>T (p.Pro236=)
|
rs769809719
|
0.00001
|
|
NM_017950.4(CCDC40):c.757A>G (p.Thr253Ala)
|
rs1181101788
|
0.00001
|
|
NM_017950.4(CCDC40):c.774G>A (p.Met258Ile)
|
rs1206714328
|
0.00001
|
|
NM_017950.4(CCDC40):c.775G>A (p.Ala259Thr)
|
rs1301593481
|
0.00001
|
|
NM_017950.4(CCDC40):c.780G>A (p.Glu260=)
|
rs893159224
|
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.804C>T (p.Asp268=)
|
rs756325484
|
0.00001
|
|
NM_017950.4(CCDC40):c.805G>A (p.Glu269Lys)
|
rs541366157
|
0.00001
|
|
NM_017950.4(CCDC40):c.901C>T (p.Arg301Ter)
|
rs201223986
|
0.00001
|
|
NM_017950.4(CCDC40):c.93+20G>A
|
rs1418521736
|
0.00001
|
|
NM_017950.4(CCDC40):c.93+7T>C
|
rs769989162
|
0.00001
|
|
NM_017950.4(CCDC40):c.939+10C>T
|
rs746953032
|
0.00001
|
|
NM_017950.4(CCDC40):c.939+11G>A
|
rs754748154
|
0.00001
|
|
NM_017950.4(CCDC40):c.940-2A>G
|
rs750708201
|
0.00001
|
|
NM_017950.4(CCDC40):c.956A>G (p.Gln319Arg)
|
rs1428646439
|
0.00001
|
|
NM_017950.4(CCDC40):c.961C>T (p.Arg321Ter)
|
rs754867753
|
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.394C>A (p.Pro132Thr)
|
rs760457381
|
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.*290_*294del
|
rs886050524
|
0.00001
|
|
NM_018139.3(DNAAF2):c.1044G>A (p.Val348=)
|
rs780712956
|
0.00001
|
|
NM_018139.3(DNAAF2):c.1065G>A (p.Arg355=)
|
rs1227325360
|
0.00001
|
|
NM_018139.3(DNAAF2):c.1068G>A (p.Glu356=)
|
rs1297524229
|
0.00001
|
|
NM_018139.3(DNAAF2):c.1069C>G (p.Pro357Ala)
|
rs1382686393
|
0.00001
|
|
NM_018139.3(DNAAF2):c.10G>A (p.Ala4Thr)
|
rs543582959
|
0.00001
|
|
NM_018139.3(DNAAF2):c.1113C>T (p.Asp371=)
|
rs556012190
|
0.00001
|
|
NM_018139.3(DNAAF2):c.1116G>C (p.Arg372=)
|
rs536029634
|
0.00001
|
|
NM_018139.3(DNAAF2):c.1122A>G (p.Gly374=)
|
rs1406174147
|
0.00001
|
|
NM_018139.3(DNAAF2):c.1130G>T (p.Gly377Val)
|
rs1401045306
|
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.1198C>T (p.His400Tyr)
|
rs1156840227
|
0.00001
|
|
NM_018139.3(DNAAF2):c.1252C>G (p.Pro418Ala)
|
rs547345322
|
0.00001
|
|
NM_018139.3(DNAAF2):c.1280C>A (p.Ala427Asp)
|
rs2502767943
|
0.00001
|
|
NM_018139.3(DNAAF2):c.1292G>A (p.Arg431His)
|
rs752971038
|
0.00001
|
|
NM_018139.3(DNAAF2):c.12G>A (p.Ala4=)
|
rs1321491762
|
0.00001
|
|
NM_018139.3(DNAAF2):c.1312C>T (p.Gln438Ter)
|
rs1213557289
|
0.00001
|
|
NM_018139.3(DNAAF2):c.1344G>A (p.Pro448=)
|
rs776679961
|
0.00001
|
|
NM_018139.3(DNAAF2):c.1359G>T (p.Glu453Asp)
|
rs765119356
|
0.00001
|
|
NM_018139.3(DNAAF2):c.137C>G (p.Pro46Arg)
|
rs537173870
|
0.00001
|
|
NM_018139.3(DNAAF2):c.1386T>A (p.Pro462=)
|
rs749856571
|
0.00001
|
|
NM_018139.3(DNAAF2):c.1389T>C (p.Gly463=)
|
rs778237690
|
0.00001
|
|
NM_018139.3(DNAAF2):c.1443G>A (p.Ala481=)
|
rs1883232234
|
0.00001
|
|
NM_018139.3(DNAAF2):c.1458G>A (p.Ala486=)
|
rs778255864
|
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.1510C>T (p.Gln504Ter)
|
rs748693944
|
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.1590C>G (p.Asp530Glu)
|
rs775386781
|
0.00001
|
|
NM_018139.3(DNAAF2):c.1605T>G (p.Thr535=)
|
rs754820834
|
0.00001
|
|
NM_018139.3(DNAAF2):c.1606C>T (p.Leu536=)
|
rs1289754130
|
0.00001
|
|
NM_018139.3(DNAAF2):c.1622C>T (p.Pro541Leu)
|
rs757899121
|
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.181C>T (p.Arg61Cys)
|
rs1253214739
|
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.1841G>A (p.Gly614Asp)
|
rs752092329
|
0.00001
|
|
NM_018139.3(DNAAF2):c.1856C>T (p.Ser619Phe)
|
rs1224874110
|
0.00001
|
|
NM_018139.3(DNAAF2):c.1863+19G>A
|
rs760484010
|
0.00001
|
|
NM_018139.3(DNAAF2):c.1880A>G (p.Asn627Ser)
|
rs1248099164
|
0.00001
|
|
NM_018139.3(DNAAF2):c.1911G>A (p.Glu637=)
|
rs767355281
|
0.00001
|
|
NM_018139.3(DNAAF2):c.1914C>T (p.Val638=)
|
rs759318751
|
0.00001
|
|
NM_018139.3(DNAAF2):c.1939A>G (p.Met647Val)
|
rs1883057031
|
0.00001
|
|
NM_018139.3(DNAAF2):c.2007+10T>C
|
rs764229415
|
0.00001
|
|
NM_018139.3(DNAAF2):c.2092A>G (p.Ile698Val)
|
rs1224909457
|
0.00001
|
|
NM_018139.3(DNAAF2):c.2106C>T (p.Asn702=)
|
rs1555327430
|
0.00001
|
|
NM_018139.3(DNAAF2):c.2134A>G (p.Ile712Val)
|
rs961303731
|
0.00001
|
|
NM_018139.3(DNAAF2):c.2139A>C (p.Ala713=)
|
rs997727890
|
0.00001
|
|
NM_018139.3(DNAAF2):c.2148A>C (p.Ala716=)
|
rs1425845593
|
0.00001
|
|
NM_018139.3(DNAAF2):c.2180G>T (p.Cys727Phe)
|
rs771391643
|
0.00001
|
|
NM_018139.3(DNAAF2):c.2205T>A (p.Val735=)
|
rs750136915
|
0.00001
|
|
NM_018139.3(DNAAF2):c.2211A>G (p.Gln737=)
|
rs1403122337
|
0.00001
|
|
NM_018139.3(DNAAF2):c.2269G>T (p.Glu757Ter)
|
rs901815790
|
0.00001
|
|
NM_018139.3(DNAAF2):c.2314G>A (p.Glu772Lys)
|
rs1469795552
|
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.2428C>T (p.Gln810Ter)
|
rs747290752
|
0.00001
|
|
NM_018139.3(DNAAF2):c.2429A>G (p.Gln810Arg)
|
rs780416166
|
0.00001
|
|
NM_018139.3(DNAAF2):c.2449A>G (p.Ile817Val)
|
rs777785769
|
0.00001
|
|
NM_018139.3(DNAAF2):c.2505T>C (p.Asp835=)
|
rs1229371492
|
0.00001
|
|
NM_018139.3(DNAAF2):c.274G>C (p.Val92Leu)
|
rs1416652175
|
0.00001
|
|
NM_018139.3(DNAAF2):c.299C>G (p.Ala100Gly)
|
rs1246371500
|
0.00001
|
|
NM_018139.3(DNAAF2):c.305G>A (p.Ser102Asn)
|
rs997340567
|
0.00001
|
|
NM_018139.3(DNAAF2):c.309C>T (p.Ser103=)
|
rs1248391381
|
0.00001
|
|
NM_018139.3(DNAAF2):c.311G>A (p.Arg104Gln)
|
rs2139584082
|
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.460G>A (p.Ala154Thr)
|
rs1302191659
|
0.00001
|
|
NM_018139.3(DNAAF2):c.471C>T (p.His157=)
|
rs886050528
|
0.00001
|
|
NM_018139.3(DNAAF2):c.480C>T (p.Phe160=)
|
rs1347268986
|
0.00001
|
|
NM_018139.3(DNAAF2):c.489G>A (p.Met163Ile)
|
rs778406709
|
0.00001
|
|
NM_018139.3(DNAAF2):c.544C>G (p.Arg182Gly)
|
rs1227265660
|
0.00001
|
|
NM_018139.3(DNAAF2):c.573G>T (p.Lys191Asn)
|
rs1027490539
|
0.00001
|
|
NM_018139.3(DNAAF2):c.582G>C (p.Gly194=)
|
rs532979117
|
0.00001
|
|
NM_018139.3(DNAAF2):c.589G>A (p.Glu197Lys)
|
rs1883282453
|
0.00001
|
|
NM_018139.3(DNAAF2):c.616C>A (p.Pro206Thr)
|
rs781591271
|
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.645G>A (p.Gly215=)
|
rs776941259
|
0.00001
|
|
NM_018139.3(DNAAF2):c.681T>A (p.Pro227=)
|
rs751579017
|
0.00001
|
|
NM_018139.3(DNAAF2):c.686A>G (p.Gln229Arg)
|
rs762538506
|
0.00001
|
|
NM_018139.3(DNAAF2):c.693G>A (p.Pro231=)
|
rs764901505
|
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.719C>A (p.Ser240Tyr)
|
rs779083314
|
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.829_835dup (p.Val279fs)
|
rs777108430
|
0.00001
|
|
NM_018139.3(DNAAF2):c.882G>T (p.Ser294=)
|
rs979587577
|
0.00001
|
|
NM_018139.3(DNAAF2):c.913A>G (p.Lys305Glu)
|
rs778838837
|
0.00001
|
|
NM_018139.3(DNAAF2):c.973C>G (p.Pro325Ala)
|
rs776779607
|
0.00001
|
|
NM_021147.5(CCNO):c.1012C>G (p.Gln338Glu)
|
rs770421646
|
0.00001
|
|
NM_021147.5(CCNO):c.1017C>T (p.Ile339=)
|
rs200969817
|
0.00001
|
|
NM_021147.5(CCNO):c.156G>A (p.Pro52=)
|
rs1359521554
|
0.00001
|
|
NM_021147.5(CCNO):c.166G>A (p.Gly56Ser)
|
rs1489774896
|
0.00001
|
|
NM_021147.5(CCNO):c.183C>T (p.Phe61=)
|
rs760832879
|
0.00001
|
|
NM_021147.5(CCNO):c.208G>A (p.Gly70Ser)
|
rs369830529
|
0.00001
|
|
NM_021147.5(CCNO):c.219C>G (p.Ser73Arg)
|
rs1405417412
|
0.00001
|
|
NM_021147.5(CCNO):c.231G>A (p.Ala77=)
|
rs770551339
|
0.00001
|
|
NM_021147.5(CCNO):c.26C>T (p.Pro9Leu)
|
rs776702978
|
0.00001
|
|
NM_021147.5(CCNO):c.30G>A (p.Ser10=)
|
rs771067579
|
0.00001
|
|
NM_021147.5(CCNO):c.370C>T (p.Arg124Trp)
|
rs1017115994
|
0.00001
|
|
NM_021147.5(CCNO):c.371G>T (p.Arg124Leu)
|
rs750998590
|
0.00001
|
|
NM_021147.5(CCNO):c.381+3G>A
|
rs577008396
|
0.00001
|
|
NM_021147.5(CCNO):c.445C>G (p.Leu149Val)
|
rs1170297559
|
0.00001
|
|
NM_021147.5(CCNO):c.463T>A (p.Cys155Ser)
|
rs758456393
|
0.00001
|
|
NM_021147.5(CCNO):c.482T>C (p.Leu161Pro)
|
rs535119119
|
0.00001
|
|
NM_021147.5(CCNO):c.519C>G (p.Asp173Glu)
|
rs1454235214
|
0.00001
|
|
NM_021147.5(CCNO):c.567+9G>A
|
rs926256890
|
0.00001
|
|
NM_021147.5(CCNO):c.587G>T (p.Arg196Leu)
|
rs756994700
|
0.00001
|
|
NM_021147.5(CCNO):c.589G>C (p.Val197Leu)
|
rs751534793
|
0.00001
|
|
NM_021147.5(CCNO):c.724C>T (p.His242Tyr)
|
rs1745584991
|
0.00001
|
|
NM_021147.5(CCNO):c.775C>T (p.Gln259Ter)
|
rs1060503388
|
0.00001
|
|
NM_021147.5(CCNO):c.788G>C (p.Arg263Pro)
|
rs746811253
|
0.00001
|
|
NM_021147.5(CCNO):c.808C>A (p.Leu270Met)
|
rs748700550
|
0.00001
|
|
NM_021147.5(CCNO):c.84G>A (p.Pro28=)
|
rs755568469
|
0.00001
|
|
NM_021147.5(CCNO):c.866C>T (p.Ala289Val)
|
rs773419820
|
0.00001
|
|
NM_021147.5(CCNO):c.945C>G (p.Asp315Glu)
|
rs1240396964
|
0.00001
|
|
NM_021147.5(CCNO):c.949A>C (p.Met317Leu)
|
rs780967882
|
0.00001
|
|
NM_021147.5(CCNO):c.989C>T (p.Ser330Phe)
|
rs750696117
|
0.00001
|
|
NM_021147.5(CCNO):c.997C>T (p.His333Tyr)
|
rs368310145
|
0.00001
|
|
NM_023036.6(DNAI2):c.1011C>A (p.Thr337=)
|
rs768490008
|
0.00001
|
|
NM_023036.6(DNAI2):c.1012G>A (p.Glu338Lys)
|
rs1228330378
|
0.00001
|
|
NM_023036.6(DNAI2):c.103C>G (p.Pro35Ala)
|
rs1297623367
|
0.00001
|
|
NM_023036.6(DNAI2):c.1047C>T (p.Ala349=)
|
rs1322045317
|
0.00001
|
|
NM_023036.6(DNAI2):c.1052C>T (p.Thr351Met)
|
rs548988225
|
0.00001
|
|
NM_023036.6(DNAI2):c.1069G>A (p.Val357Met)
|
rs766139796
|
0.00001
|
|
NM_023036.6(DNAI2):c.1071G>A (p.Val357=)
|
rs2053119347
|
0.00001
|
|
NM_023036.6(DNAI2):c.1128C>T (p.Tyr376=)
|
rs2053124377
|
0.00001
|
|
NM_023036.6(DNAI2):c.114C>T (p.Ala38=)
|
rs763489979
|
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.1211+7G>A
|
rs2053133531
|
0.00001
|
|
NM_023036.6(DNAI2):c.1212-20_1212-19del
|
rs2053363197
|
0.00001
|
|
NM_023036.6(DNAI2):c.1263C>A (p.Thr421=)
|
rs771686170
|
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.1347+19C>T
|
rs760797251
|
0.00001
|
|
NM_023036.6(DNAI2):c.1347+1G>T
|
rs1567875399
|
0.00001
|
|
NM_023036.6(DNAI2):c.1347+6G>A
|
rs769832640
|
0.00001
|
|
NM_023036.6(DNAI2):c.1348-16C>T
|
rs113190193
|
0.00001
|
|
NM_023036.6(DNAI2):c.1368C>T (p.Phe456=)
|
rs773370913
|
0.00001
|
|
NM_023036.6(DNAI2):c.1376G>A (p.Arg459Gln)
|
rs774591252
|
0.00001
|
|
NM_023036.6(DNAI2):c.1414C>T (p.Gln472Ter)
|
rs756868374
|
0.00001
|
|
NM_023036.6(DNAI2):c.1415A>G (p.Gln472Arg)
|
rs765028301
|
0.00001
|
|
NM_023036.6(DNAI2):c.1420G>A (p.Gly474Arg)
|
rs878855078
|
0.00001
|
|
NM_023036.6(DNAI2):c.1429dup (p.Thr477fs)
|
rs1567876609
|
0.00001
|
|
NM_023036.6(DNAI2):c.1433del (p.Leu478fs)
|
rs2053427700
|
0.00001
|
|
NM_023036.6(DNAI2):c.1440G>A (p.Glu480=)
|
rs1460296180
|
0.00001
|
|
NM_023036.6(DNAI2):c.1455C>G (p.Leu485=)
|
rs901923607
|
0.00001
|
|
NM_023036.6(DNAI2):c.1458T>C (p.Ser486=)
|
rs2053429327
|
0.00001
|
|
NM_023036.6(DNAI2):c.1482C>T (p.Asn494=)
|
rs1441537699
|
0.00001
|
|
NM_023036.6(DNAI2):c.1494+1G>A
|
rs397515565
|
0.00001
|
|
NM_023036.6(DNAI2):c.1494+20G>A
|
rs751426797
|
0.00001
|
|
NM_023036.6(DNAI2):c.1495-10G>C
|
rs762668832
|
0.00001
|
|
NM_023036.6(DNAI2):c.1495-12C>G
|
rs772697427
|
0.00001
|
|
NM_023036.6(DNAI2):c.1543C>T (p.Arg515Trp)
|
rs748717910
|
0.00001
|
|
NM_023036.6(DNAI2):c.1544G>A (p.Arg515Gln)
|
rs769115235
|
0.00001
|
|
NM_023036.6(DNAI2):c.1596G>A (p.Gln532=)
|
rs372751337
|
0.00001
|
|
NM_023036.6(DNAI2):c.15C>T (p.Tyr5=)
|
rs760845605
|
0.00001
|
|
NM_023036.6(DNAI2):c.1602T>C (p.Asp534=)
|
rs376541043
|
0.00001
|
|
NM_023036.6(DNAI2):c.1611G>T (p.Leu537=)
|
rs1483200427
|
0.00001
|
|
NM_023036.6(DNAI2):c.1613C>T (p.Ala538Val)
|
rs562043936
|
0.00001
|
|
NM_023036.6(DNAI2):c.1619A>T (p.Asp540Val)
|
rs794727074
|
0.00001
|
|
NM_023036.6(DNAI2):c.1637del (p.Ser546fs)
|
rs1183237509
|
0.00001
|
|
NM_023036.6(DNAI2):c.1650G>A (p.Glu550=)
|
rs760520336
|
0.00001
|
|
NM_023036.6(DNAI2):c.1671C>T (p.Phe557=)
|
rs766594632
|
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.1716A>C (p.Pro572=)
|
rs771816059
|
0.00001
|
|
NM_023036.6(DNAI2):c.1722+10T>C
|
rs1383896621
|
0.00001
|
|
NM_023036.6(DNAI2):c.1723-13T>C
|
rs374057086
|
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.1758G>A (p.Glu586=)
|
rs375973900
|
0.00001
|
|
NM_023036.6(DNAI2):c.1790del (p.Asp597fs)
|
rs751056551
|
0.00001
|
|
NM_023036.6(DNAI2):c.198G>A (p.Arg66=)
|
rs763731811
|
0.00001
|
|
NM_023036.6(DNAI2):c.215G>A (p.Arg72Gln)
|
rs200668134
|
0.00001
|
|
NM_023036.6(DNAI2):c.21C>T (p.Tyr7=)
|
rs764381446
|
0.00001
|
|
NM_023036.6(DNAI2):c.252C>T (p.Asp84=)
|
rs778114743
|
0.00001
|
|
NM_023036.6(DNAI2):c.265G>A (p.Glu89Lys)
|
rs1200979339
|
0.00001
|
|
NM_023036.6(DNAI2):c.270G>A (p.Leu90=)
|
rs1002722809
|
0.00001
|
|
NM_023036.6(DNAI2):c.296A>C (p.Lys99Thr)
|
rs200125805
|
0.00001
|
|
NM_023036.6(DNAI2):c.300G>A (p.Val100=)
|
rs376247013
|
0.00001
|
|
NM_023036.6(DNAI2):c.336G>T (p.Gln112His)
|
rs751496866
|
0.00001
|
|
NM_023036.6(DNAI2):c.345+18C>T
|
rs559209668
|
0.00001
|
|
NM_023036.6(DNAI2):c.346-4C>T
|
rs1385898478
|
0.00001
|
|
NM_023036.6(DNAI2):c.346-8C>T
|
rs1224415599
|
0.00001
|
|
NM_023036.6(DNAI2):c.36C>T (p.Ser12=)
|
rs1010691751
|
0.00001
|
|
NM_023036.6(DNAI2):c.371A>C (p.Asn124Thr)
|
rs781712279
|
0.00001
|
|
NM_023036.6(DNAI2):c.378C>T (p.Ala126=)
|
rs1490406659
|
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.421G>T (p.Glu141Ter)
|
rs772133192
|
0.00001
|
|
NM_023036.6(DNAI2):c.43G>A (p.Gly15Arg)
|
rs758997612
|
0.00001
|
|
NM_023036.6(DNAI2):c.45G>A (p.Gly15=)
|
rs751121542
|
0.00001
|
|
NM_023036.6(DNAI2):c.467+10T>C
|
rs377310209
|
0.00001
|
|
NM_023036.6(DNAI2):c.467+5C>T
|
rs529401265
|
0.00001
|
|
NM_023036.6(DNAI2):c.467+6G>A
|
rs1486894999
|
0.00001
|
|
NM_023036.6(DNAI2):c.467+7C>A
|
rs1421393242
|
0.00001
|
|
NM_023036.6(DNAI2):c.468-8C>T
|
rs1598289254
|
0.00001
|
|
NM_023036.6(DNAI2):c.486G>A (p.Lys162=)
|
rs1202160928
|
0.00001
|
|
NM_023036.6(DNAI2):c.498A>G (p.Thr166=)
|
rs1214535826
|
0.00001
|
|
NM_023036.6(DNAI2):c.502C>T (p.Leu168Phe)
|
rs184354915
|
0.00001
|
|
NM_023036.6(DNAI2):c.516C>T (p.Pro172=)
|
rs561911124
|
0.00001
|
|
NM_023036.6(DNAI2):c.517G>A (p.Asp173Asn)
|
rs150649080
|
0.00001
|
|
NM_023036.6(DNAI2):c.521G>A (p.Gly174Asp)
|
rs978797882
|
0.00001
|
|
NM_023036.6(DNAI2):c.579C>T (p.Gly193=)
|
rs2051967453
|
0.00001
|
|
NM_023036.6(DNAI2):c.57T>C (p.Asn19=)
|
rs746568626
|
0.00001
|
|
NM_023036.6(DNAI2):c.611-16T>A
|
rs562945643
|
0.00001
|
|
NM_023036.6(DNAI2):c.611-4A>G
|
rs752506783
|
0.00001
|
|
NM_023036.6(DNAI2):c.611-5T>G
|
rs1378230679
|
0.00001
|
|
NM_023036.6(DNAI2):c.631C>A (p.Leu211Ile)
|
rs772245017
|
0.00001
|
|
NM_023036.6(DNAI2):c.63G>A (p.Ser21=)
|
rs747888220
|
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.678C>T (p.Pro226=)
|
rs1049187015
|
0.00001
|
|
NM_023036.6(DNAI2):c.680A>G (p.Lys227Arg)
|
rs759166271
|
0.00001
|
|
NM_023036.6(DNAI2):c.712A>G (p.Asn238Asp)
|
rs1033678565
|
0.00001
|
|
NM_023036.6(DNAI2):c.718C>T (p.Gln240Ter)
|
rs780116486
|
0.00001
|
|
NM_023036.6(DNAI2):c.720G>A (p.Gln240=)
|
rs755223435
|
0.00001
|
|
NM_023036.6(DNAI2):c.725-2A>C
|
rs1448501611
|
0.00001
|
|
NM_023036.6(DNAI2):c.725-5A>G
|
rs1262236006
|
0.00001
|
|
NM_023036.6(DNAI2):c.725-6C>A
|
rs374155875
|
0.00001
|
|
NM_023036.6(DNAI2):c.740G>A (p.Arg247Gln)
|
rs755060592
|
0.00001
|
|
NM_023036.6(DNAI2):c.741A>G (p.Arg247=)
|
rs1464997999
|
0.00001
|
|
NM_023036.6(DNAI2):c.75C>G (p.Ala25=)
|
rs749172812
|
0.00001
|
|
NM_023036.6(DNAI2):c.760G>A (p.Glu254Lys)
|
rs779332423
|
0.00001
|
|
NM_023036.6(DNAI2):c.781A>G (p.Ser261Gly)
|
rs1340319164
|
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.883C>T (p.Arg295Ter)
|
rs200708870
|
0.00001
|
|
NM_023036.6(DNAI2):c.884G>A (p.Arg295Gln)
|
rs1461755550
|
0.00001
|
|
NM_023036.6(DNAI2):c.900C>T (p.Pro300=)
|
rs752020598
|
0.00001
|
|
NM_023036.6(DNAI2):c.921C>T (p.Asp307=)
|
rs1420838322
|
0.00001
|
|
NM_023036.6(DNAI2):c.940T>C (p.Leu314=)
|
rs749072778
|
0.00001
|
|
NM_023036.6(DNAI2):c.947A>T (p.Asn316Ile)
|
rs774323743
|
0.00001
|
|
NM_023036.6(DNAI2):c.975C>T (p.Phe325=)
|
rs1217838487
|
0.00001
|
|
NM_023036.6(DNAI2):c.978A>T (p.Glu326Asp)
|
rs763193003
|
0.00001
|
|
NM_023036.6(DNAI2):c.989C>T (p.Pro330Leu)
|
rs778774910
|
0.00001
|
|
NM_023036.6(DNAI2):c.9T>C (p.Ile3=)
|
rs2143873517
|
0.00001
|
|
NM_080860.4(RSPH1):c.111G>A (p.Arg37=)
|
rs539117574
|
0.00001
|
|
NM_080860.4(RSPH1):c.144C>T (p.Tyr48=)
|
rs534988351
|
0.00001
|
|
NM_080860.4(RSPH1):c.192T>G (p.Gly64=)
|
rs375454508
|
0.00001
|
|
NM_080860.4(RSPH1):c.204C>T (p.Ile68=)
|
rs755219864
|
0.00001
|
|
NM_080860.4(RSPH1):c.274+11A>G
|
rs762525092
|
0.00001
|
|
NM_080860.4(RSPH1):c.300C>T (p.His100=)
|
rs753822297
|
0.00001
|
|
NM_080860.4(RSPH1):c.306T>C (p.His102=)
|
rs987342960
|
0.00001
|
|
NM_080860.4(RSPH1):c.309C>T (p.Gly103=)
|
rs1386166584
|
0.00001
|
|
NM_080860.4(RSPH1):c.313T>C (p.Tyr105His)
|
rs1388776078
|
0.00001
|
|
NM_080860.4(RSPH1):c.350G>T (p.Trp117Leu)
|
rs758245475
|
0.00001
|
|
NM_080860.4(RSPH1):c.358C>T (p.His120Tyr)
|
rs369525575
|
0.00001
|
|
NM_080860.4(RSPH1):c.365+4C>T
|
rs201479872
|
0.00001
|
|
NM_080860.4(RSPH1):c.365+5G>A
|
rs776206326
|
0.00001
|
|
NM_080860.4(RSPH1):c.366-17C>T
|
rs753629807
|
0.00001
|
|
NM_080860.4(RSPH1):c.377G>T (p.Gly126Val)
|
rs1334138475
|
0.00001
|
|
NM_080860.4(RSPH1):c.433C>A (p.Gln145Lys)
|
rs778786028
|
0.00001
|
|
NM_080860.4(RSPH1):c.451G>A (p.Glu151Lys)
|
rs767070148
|
0.00001
|
|
NM_080860.4(RSPH1):c.474G>A (p.Arg158=)
|
rs760988186
|
0.00001
|
|
NM_080860.4(RSPH1):c.502-4G>A
|
rs558863901
|
0.00001
|
|
NM_080860.4(RSPH1):c.531T>C (p.Asp177=)
|
rs755284624
|
0.00001
|
|
NM_080860.4(RSPH1):c.537G>T (p.Gly179=)
|
rs775465501
|
0.00001
|
|
NM_080860.4(RSPH1):c.54+7G>A
|
rs1198333104
|
0.00001
|
|
NM_080860.4(RSPH1):c.560G>A (p.Arg187His)
|
rs746604496
|
0.00001
|
|
NM_080860.4(RSPH1):c.60T>C (p.Tyr20=)
|
rs762144549
|
0.00001
|
|
NM_080860.4(RSPH1):c.630A>C (p.Lys210Asn)
|
rs2054078912
|
0.00001
|
|
NM_080860.4(RSPH1):c.661A>G (p.Thr221Ala)
|
rs369932767
|
0.00001
|
|
NM_080860.4(RSPH1):c.709G>C (p.Asp237His)
|
rs368695982
|
0.00001
|
|
NM_080860.4(RSPH1):c.727+11C>A
|
rs201392587
|
0.00001
|
|
NM_080860.4(RSPH1):c.741C>T (p.Pro247=)
|
rs142166675
|
0.00001
|
|
NM_080860.4(RSPH1):c.775G>A (p.Glu259Lys)
|
rs762397242
|
0.00001
|
|
NM_080860.4(RSPH1):c.798T>C (p.Pro266=)
|
rs577891231
|
0.00001
|
|
NM_080860.4(RSPH1):c.877+13C>T
|
rs747107857
|
0.00001
|
|
NM_080860.4(RSPH1):c.877+14G>A
|
rs1057501981
|
0.00001
|
|
NM_080860.4(RSPH1):c.878-4T>G
|
rs768550351
|
0.00001
|
|
NM_145038.5(DRC1):c.1028+10C>A
|
rs1663692485
|
0.00001
|
|
NM_145038.5(DRC1):c.1028+12T>C
|
rs1231547608
|
0.00001
|
|
NM_145038.5(DRC1):c.1028+18G>A
|
rs372104812
|
0.00001
|
|
NM_145038.5(DRC1):c.1029-1G>T
|
rs745800344
|
0.00001
|
|
NM_145038.5(DRC1):c.1029-7C>T
|
rs2465427961
|
0.00001
|
|
NM_145038.5(DRC1):c.1082A>C (p.Gln361Pro)
|
rs970137380
|
0.00001
|
|
NM_145038.5(DRC1):c.1163+15T>C
|
rs909455212
|
0.00001
|
|
NM_145038.5(DRC1):c.1219G>A (p.Glu407Lys)
|
rs1182364971
|
0.00001
|
|
NM_145038.5(DRC1):c.1263G>A (p.Arg421=)
|
rs778963656
|
0.00001
|
|
NM_145038.5(DRC1):c.1286G>A (p.Gly429Glu)
|
rs1663811432
|
0.00001
|
|
NM_145038.5(DRC1):c.1304C>T (p.Pro435Leu)
|
rs747835380
|
0.00001
|
|
NM_145038.5(DRC1):c.1348C>A (p.Pro450Thr)
|
rs1214850546
|
0.00001
|
|
NM_145038.5(DRC1):c.1350C>T (p.Pro450=)
|
rs1238027745
|
0.00001
|
|
NM_145038.5(DRC1):c.1372G>A (p.Val458Ile)
|
rs372422691
|
0.00001
|
|
NM_145038.5(DRC1):c.137G>T (p.Arg46Leu)
|
rs745457802
|
0.00001
|
|
NM_145038.5(DRC1):c.1392C>T (p.Arg464=)
|
rs759050672
|
0.00001
|
|
NM_145038.5(DRC1):c.1396+19T>A
|
rs1475889353
|
0.00001
|
|
NM_145038.5(DRC1):c.1397-20T>G
|
rs764148240
|
0.00001
|
|
NM_145038.5(DRC1):c.1424C>T (p.Ala475Val)
|
rs200155316
|
0.00001
|
|
NM_145038.5(DRC1):c.1451C>T (p.Pro484Leu)
|
rs149334724
|
0.00001
|
|
NM_145038.5(DRC1):c.1508C>T (p.Ser503Leu)
|
rs779688284
|
0.00001
|
|
NM_145038.5(DRC1):c.1509+11G>A
|
rs768160053
|
0.00001
|
|
NM_145038.5(DRC1):c.1540C>T (p.Leu514Phe)
|
rs1663961136
|
0.00001
|
|
NM_145038.5(DRC1):c.1600-2A>G
|
rs748345425
|
0.00001
|
|
NM_145038.5(DRC1):c.1620G>A (p.Glu540=)
|
rs774673063
|
0.00001
|
|
NM_145038.5(DRC1):c.1622A>G (p.Asp541Gly)
|
rs760087399
|
0.00001
|
|
NM_145038.5(DRC1):c.1643A>T (p.Asn548Ile)
|
rs1257446687
|
0.00001
|
|
NM_145038.5(DRC1):c.1689+20G>A
|
rs1663981941
|
0.00001
|
|
NM_145038.5(DRC1):c.1739C>A (p.Thr580Lys)
|
rs773007219
|
0.00001
|
|
NM_145038.5(DRC1):c.1776G>A (p.Thr592=)
|
rs750675673
|
0.00001
|
|
NM_145038.5(DRC1):c.1892C>T (p.Ala631Val)
|
rs751715818
|
0.00001
|
|
NM_145038.5(DRC1):c.1900A>G (p.Met634Val)
|
rs1297970541
|
0.00001
|
|
NM_145038.5(DRC1):c.1919+10G>A
|
rs775449578
|
0.00001
|
|
NM_145038.5(DRC1):c.1976del (p.Ser659fs)
|
rs772974990
|
0.00001
|
|
NM_145038.5(DRC1):c.1977G>A (p.Ser659=)
|
rs368854171
|
0.00001
|
|
NM_145038.5(DRC1):c.1980G>A (p.Glu660=)
|
rs758049295
|
0.00001
|
|
NM_145038.5(DRC1):c.2056A>G (p.Lys686Glu)
|
rs587776997
|
0.00001
|
|
NM_145038.5(DRC1):c.2058G>A (p.Lys686=)
|
rs1386352972
|
0.00001
|
|
NM_145038.5(DRC1):c.2064-10C>T
|
rs201647974
|
0.00001
|
|
NM_145038.5(DRC1):c.2064-8G>A
|
rs1012672985
|
0.00001
|
|
NM_145038.5(DRC1):c.2099A>G (p.Glu700Gly)
|
rs1347088566
|
0.00001
|
|
NM_145038.5(DRC1):c.2100A>G (p.Glu700=)
|
rs1204217245
|
0.00001
|
|
NM_145038.5(DRC1):c.2134C>T (p.Gln712Ter)
|
rs763706980
|
0.00001
|
|
NM_145038.5(DRC1):c.244-16A>G
|
rs1663134267
|
0.00001
|
|
NM_145038.5(DRC1):c.300T>C (p.Ala100=)
|
rs1307580523
|
0.00001
|
|
NM_145038.5(DRC1):c.308T>C (p.Ile103Thr)
|
rs774744171
|
0.00001
|
|
NM_145038.5(DRC1):c.356+8C>T
|
rs749365742
|
0.00001
|
|
NM_145038.5(DRC1):c.460T>C (p.Trp154Arg)
|
rs1167224672
|
0.00001
|
|
NM_145038.5(DRC1):c.46G>A (p.Glu16Lys)
|
rs149082901
|
0.00001
|
|
NM_145038.5(DRC1):c.476C>T (p.Thr159Ile)
|
rs368096684
|
0.00001
|
|
NM_145038.5(DRC1):c.501C>T (p.Leu167=)
|
rs778849420
|
0.00001
|
|
NM_145038.5(DRC1):c.528C>T (p.Ser176=)
|
rs780717600
|
0.00001
|
|
NM_145038.5(DRC1):c.541-14A>G
|
rs1000000016
|
0.00001
|
|
NM_145038.5(DRC1):c.56C>T (p.Ser19Phe)
|
rs753185786
|
0.00001
|
|
NM_145038.5(DRC1):c.660G>A (p.Glu220=)
|
rs1167860486
|
0.00001
|
|
NM_145038.5(DRC1):c.678+17A>G
|
rs1229896011
|
0.00001
|
|
NM_145038.5(DRC1):c.684A>G (p.Ala228=)
|
rs751246954
|
0.00001
|
|
NM_145038.5(DRC1):c.697C>T (p.Arg233Cys)
|
rs756180718
|
0.00001
|
|
NM_145038.5(DRC1):c.698G>A (p.Arg233His)
|
rs760707903
|
0.00001
|
|
NM_145038.5(DRC1):c.71C>A (p.Ala24Glu)
|
rs770464153
|
0.00001
|
|
NM_145038.5(DRC1):c.732G>A (p.Trp244Ter)
|
rs371220148
|
0.00001
|
|
NM_145038.5(DRC1):c.74C>G (p.Pro25Arg)
|
rs778586998
|
0.00001
|
|
NM_145038.5(DRC1):c.765+6G>A
|
rs374715318
|
0.00001
|
|
NM_145038.5(DRC1):c.766-13C>T
|
rs376503606
|
0.00001
|
|
NM_145038.5(DRC1):c.766-7C>T
|
rs373980754
|
0.00001
|
|
NM_145038.5(DRC1):c.77C>G (p.Ser26Trp)
|
rs745542616
|
0.00001
|
|
NM_145038.5(DRC1):c.784C>T (p.Arg262Cys)
|
rs748399379
|
0.00001
|
|
NM_145038.5(DRC1):c.785G>A (p.Arg262His)
|
rs756078948
|
0.00001
|
|
NM_145038.5(DRC1):c.7C>T (p.Pro3Ser)
|
rs759091863
|
0.00001
|
|
NM_145038.5(DRC1):c.843C>T (p.Cys281=)
|
rs371207623
|
0.00001
|
|
NM_145038.5(DRC1):c.918A>G (p.Lys306=)
|
rs779140891
|
0.00001
|
|
NM_145038.5(DRC1):c.963G>T (p.Gln321His)
|
rs747446719
|
0.00001
|
|
NM_145038.5(DRC1):c.972G>A (p.Lys324=)
|
rs1663689812
|
0.00001
|
|
NM_145038.5(DRC1):c.996A>G (p.Val332=)
|
rs943144910
|
0.00001
|
|
NM_145045.5(ODAD3):c.98C>A (p.Ser33Ter)
|
rs1969627663
|
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.11A>G (p.Asp4Gly)
|
rs532399493
|
0.00001
|
|
NM_152732.5(RSPH9):c.128G>A (p.Arg43Gln)
|
rs766284971
|
0.00001
|
|
NM_152732.5(RSPH9):c.154G>T (p.Gly52Cys)
|
rs763447905
|
0.00001
|
|
NM_152732.5(RSPH9):c.159C>T (p.Leu53=)
|
rs145929923
|
0.00001
|
|
NM_152732.5(RSPH9):c.18C>G (p.Leu6=)
|
rs768726027
|
0.00001
|
|
NM_152732.5(RSPH9):c.204C>T (p.Leu68=)
|
rs548590846
|
0.00001
|
|
NM_152732.5(RSPH9):c.227+20G>A
|
rs1365198911
|
0.00001
|
|
NM_152732.5(RSPH9):c.235T>C (p.Cys79Arg)
|
rs1468687902
|
0.00001
|
|
NM_152732.5(RSPH9):c.260C>G (p.Pro87Arg)
|
rs774989438
|
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.451G>A (p.Val151Met)
|
rs1212095907
|
0.00001
|
|
NM_152732.5(RSPH9):c.481A>G (p.Lys161Glu)
|
rs1351239709
|
0.00001
|
|
NM_152732.5(RSPH9):c.498C>T (p.Pro166=)
|
rs770417362
|
0.00001
|
|
NM_152732.5(RSPH9):c.524-17C>T
|
rs1225683757
|
0.00001
|
|
NM_152732.5(RSPH9):c.655C>T (p.His219Tyr)
|
rs111643012
|
0.00001
|
|
NM_152732.5(RSPH9):c.657T>C (p.His219=)
|
rs748721325
|
0.00001
|
|
NM_152732.5(RSPH9):c.66G>A (p.Pro22=)
|
rs781745993
|
0.00001
|
|
NM_152732.5(RSPH9):c.671-5C>T
|
rs760442254
|
0.00001
|
|
NM_152732.5(RSPH9):c.683T>C (p.Ile228Thr)
|
rs753489926
|
0.00001
|
|
NM_152732.5(RSPH9):c.704C>T (p.Ala235Val)
|
rs1057502519
|
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_152732.5(RSPH9):c.786C>T (p.Tyr262=)
|
rs375121621
|
0.00001
|
|
NM_178452.6(DNAAF1):c.1016A>G (p.Glu339Gly)
|
rs779981792
|
0.00001
|
|
NM_178452.6(DNAAF1):c.1030+10C>T
|
rs775992194
|
0.00001
|
|
NM_178452.6(DNAAF1):c.1072A>G (p.Ser358Gly)
|
rs751146013
|
0.00001
|
|
NM_178452.6(DNAAF1):c.1076C>T (p.Ala359Val)
|
rs899339856
|
0.00001
|
|
NM_178452.6(DNAAF1):c.107G>C (p.Arg36Pro)
|
rs932149217
|
0.00001
|
|
NM_178452.6(DNAAF1):c.1101G>C (p.Gly367=)
|
rs772659833
|
0.00001
|
|
NM_178452.6(DNAAF1):c.1124T>C (p.Met375Thr)
|
rs1033218638
|
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.1202T>C (p.Val401Ala)
|
rs2088240509
|
0.00001
|
|
NM_178452.6(DNAAF1):c.120G>A (p.Lys40=)
|
rs766876325
|
0.00001
|
|
NM_178452.6(DNAAF1):c.1271C>T (p.Ser424Leu)
|
rs748991213
|
0.00001
|
|
NM_178452.6(DNAAF1):c.1275A>G (p.Ser425=)
|
rs1325549762
|
0.00001
|
|
NM_178452.6(DNAAF1):c.1315G>C (p.Glu439Gln)
|
rs1385574276
|
0.00001
|
|
NM_178452.6(DNAAF1):c.1318G>A (p.Gly440Arg)
|
rs750949357
|
0.00001
|
|
NM_178452.6(DNAAF1):c.1340C>T (p.Pro447Leu)
|
rs755275918
|
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.1390C>T (p.Pro464Ser)
|
rs566279701
|
0.00001
|
|
NM_178452.6(DNAAF1):c.1430C>T (p.Pro477Leu)
|
rs769351361
|
0.00001
|
|
NM_178452.6(DNAAF1):c.1435del (p.Pro478_Val479insTer)
|
rs1236797387
|
0.00001
|
|
NM_178452.6(DNAAF1):c.1452G>A (p.Glu484=)
|
rs773473941
|
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.1533G>A (p.Pro511=)
|
rs767668207
|
0.00001
|
|
NM_178452.6(DNAAF1):c.1549G>A (p.Ala517Thr)
|
rs2088403833
|
0.00001
|
|
NM_178452.6(DNAAF1):c.1550C>T (p.Ala517Val)
|
rs754836834
|
0.00001
|
|
NM_178452.6(DNAAF1):c.1555G>A (p.Glu519Lys)
|
rs1215609214
|
0.00001
|
|
NM_178452.6(DNAAF1):c.1557G>A (p.Glu519=)
|
rs752094853
|
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.1595A>T (p.Glu532Val)
|
rs1170737480
|
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.1644+6T>C
|
rs749557708
|
0.00001
|
|
NM_178452.6(DNAAF1):c.165C>A (p.Asp55Glu)
|
rs2087059445
|
0.00001
|
|
NM_178452.6(DNAAF1):c.1678G>C (p.Gly560Arg)
|
rs757333074
|
0.00001
|
|
NM_178452.6(DNAAF1):c.1697A>G (p.Gln566Arg)
|
rs1290395779
|
0.00001
|
|
NM_178452.6(DNAAF1):c.1699-3T>C
|
rs1177142525
|
0.00001
|
|
NM_178452.6(DNAAF1):c.1699-5A>C
|
rs748161119
|
0.00001
|
|
NM_178452.6(DNAAF1):c.1731G>A (p.Ser577=)
|
rs759159646
|
0.00001
|
|
NM_178452.6(DNAAF1):c.1755T>A (p.Pro585=)
|
rs745506813
|
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.1847C>T (p.Ala616Val)
|
rs374900685
|
0.00001
|
|
NM_178452.6(DNAAF1):c.1849G>A (p.Ala617Thr)
|
rs1308243842
|
0.00001
|
|
NM_178452.6(DNAAF1):c.1876A>T (p.Lys626Ter)
|
rs1489377964
|
0.00001
|
|
NM_178452.6(DNAAF1):c.1907G>A (p.Arg636Gln)
|
rs773443425
|
0.00001
|
|
NM_178452.6(DNAAF1):c.191A>G (p.Gln64Arg)
|
rs878855278
|
0.00001
|
|
NM_178452.6(DNAAF1):c.1937del (p.Leu646fs)
|
rs1555527001
|
0.00001
|
|
NM_178452.6(DNAAF1):c.1953C>T (p.Ser651=)
|
rs766434597
|
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.2095G>A (p.Glu699Lys)
|
rs1428022614
|
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.230C>G (p.Pro77Arg)
|
rs1210838568
|
0.00001
|
|
NM_178452.6(DNAAF1):c.285A>T (p.Lys95Asn)
|
rs570928611
|
0.00001
|
|
NM_178452.6(DNAAF1):c.321A>G (p.Ala107=)
|
rs762318567
|
0.00001
|
|
NM_178452.6(DNAAF1):c.336G>A (p.Leu112=)
|
rs779266990
|
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.39A>C (p.Ala13=)
|
rs978051937
|
0.00001
|
|
NM_178452.6(DNAAF1):c.416A>G (p.Asn139Ser)
|
rs113737166
|
0.00001
|
|
NM_178452.6(DNAAF1):c.461G>A (p.Arg154His)
|
rs200946538
|
0.00001
|
|
NM_178452.6(DNAAF1):c.46C>G (p.Leu16Val)
|
rs545356113
|
0.00001
|
|
NM_178452.6(DNAAF1):c.532C>G (p.Leu178Val)
|
rs1325784286
|
0.00001
|
|
NM_178452.6(DNAAF1):c.572T>C (p.Leu191Pro)
|
rs1555521180
|
0.00001
|
|
NM_178452.6(DNAAF1):c.575-10T>A
|
rs561544696
|
0.00001
|
|
NM_178452.6(DNAAF1):c.575-20C>T
|
rs769567926
|
0.00001
|
|
NM_178452.6(DNAAF1):c.588C>T (p.Val196=)
|
rs1351387084
|
0.00001
|
|
NM_178452.6(DNAAF1):c.58C>T (p.Gln20Ter)
|
rs2086855300
|
0.00001
|
|
NM_178452.6(DNAAF1):c.597A>G (p.Thr199=)
|
rs1597422367
|
0.00001
|
|
NM_178452.6(DNAAF1):c.652G>C (p.Glu218Gln)
|
rs1305691679
|
0.00001
|
|
NM_178452.6(DNAAF1):c.683C>T (p.Ser228Leu)
|
rs775622753
|
0.00001
|
|
NM_178452.6(DNAAF1):c.690C>T (p.Asn230=)
|
rs764006229
|
0.00001
|
|
NM_178452.6(DNAAF1):c.694C>G (p.Leu232Val)
|
rs761851970
|
0.00001
|
|
NM_178452.6(DNAAF1):c.705G>A (p.Pro235=)
|
rs759831401
|
0.00001
|
|
NM_178452.6(DNAAF1):c.715del (p.Ser239fs)
|
rs758650222
|
0.00001
|
|
NM_178452.6(DNAAF1):c.73G>C (p.Glu25Gln)
|
rs565199726
|
0.00001
|
|
NM_178452.6(DNAAF1):c.792C>A (p.Tyr264Ter)
|
rs267607226
|
0.00001
|
|
NM_178452.6(DNAAF1):c.818A>G (p.Lys273Arg)
|
rs1023484282
|
0.00001
|
|
NM_178452.6(DNAAF1):c.864-12T>C
|
rs375232772
|
0.00001
|
|
NM_178452.6(DNAAF1):c.900A>C (p.Ala300=)
|
rs561066531
|
0.00001
|
|
NM_178452.6(DNAAF1):c.940C>T (p.Arg314Trp)
|
rs536922836
|
0.00001
|
|
NM_178452.6(DNAAF1):c.941G>A (p.Arg314Gln)
|
rs374704486
|
0.00001
|
|
NM_178452.6(DNAAF1):c.96G>C (p.Gly32=)
|
rs921722133
|
0.00001
|
|
NM_178821.3(DAW1):c.197T>A (p.Leu66Ter)
|
rs747333172
|
0.00001
|
|
NM_181426.1(CCDC39):c.-110C>T
|
rs886058201
|
0.00001
|
|
NM_181426.2(CCDC39):c.*753G>A
|
rs540779727
|
0.00001
|
|
NM_181426.2(CCDC39):c.1020T>C (p.His340=)
|
rs1256516698
|
0.00001
|
|
NM_181426.2(CCDC39):c.1034+12A>G
|
rs1183661182
|
0.00001
|
|
NM_181426.2(CCDC39):c.1035G>C (p.Arg345Ser)
|
rs770110944
|
0.00001
|
|
NM_181426.2(CCDC39):c.1062G>A (p.Glu354=)
|
rs1295519400
|
0.00001
|
|
NM_181426.2(CCDC39):c.107A>G (p.Asp36Gly)
|
rs369263891
|
0.00001
|
|
NM_181426.2(CCDC39):c.1102A>G (p.Met368Val)
|
rs564446820
|
0.00001
|
|
NM_181426.2(CCDC39):c.1167+16A>G
|
rs763251591
|
0.00001
|
|
NM_181426.2(CCDC39):c.1167+3A>G
|
rs1225512283
|
0.00001
|
|
NM_181426.2(CCDC39):c.1167+8T>C
|
rs766629332
|
0.00001
|
|
NM_181426.2(CCDC39):c.1200T>C (p.Gly400=)
|
rs940815178
|
0.00001
|
|
NM_181426.2(CCDC39):c.1202T>C (p.Val401Ala)
|
rs1456811903
|
0.00001
|
|
NM_181426.2(CCDC39):c.1222G>A (p.Glu408Lys)
|
rs538640066
|
0.00001
|
|
NM_181426.2(CCDC39):c.1228C>T (p.Gln410Ter)
|
rs897771164
|
0.00001
|
|
NM_181426.2(CCDC39):c.1239A>G (p.Thr413=)
|
rs373094293
|
0.00001
|
|
NM_181426.2(CCDC39):c.1293A>G (p.Lys431=)
|
rs1350200676
|
0.00001
|
|
NM_181426.2(CCDC39):c.1334T>G (p.Leu445Trp)
|
rs184796738
|
0.00001
|
|
NM_181426.2(CCDC39):c.1344A>T (p.Gln448His)
|
rs878974039
|
0.00001
|
|
NM_181426.2(CCDC39):c.1356C>A (p.Tyr452Ter)
|
rs375839864
|
0.00001
|
|
NM_181426.2(CCDC39):c.1363-11A>G
|
rs1553804100
|
0.00001
|
|
NM_181426.2(CCDC39):c.1363-8T>G
|
rs926957699
|
0.00001
|
|
NM_181426.2(CCDC39):c.1404A>G (p.Leu468=)
|
rs1335379185
|
0.00001
|
|
NM_181426.2(CCDC39):c.1411G>T (p.Glu471Ter)
|
rs2473808850
|
0.00001
|
|
NM_181426.2(CCDC39):c.1437G>A (p.Ala479=)
|
rs1429796397
|
0.00001
|
|
NM_181426.2(CCDC39):c.1485A>G (p.Lys495=)
|
rs755426751
|
0.00001
|
|
NM_181426.2(CCDC39):c.1490C>T (p.Thr497Ile)
|
rs765773503
|
0.00001
|
|
NM_181426.2(CCDC39):c.1491A>G (p.Thr497=)
|
rs1222659193
|
0.00001
|
|
NM_181426.2(CCDC39):c.1528-19C>A
|
rs1718023841
|
0.00001
|
|
NM_181426.2(CCDC39):c.1557T>C (p.His519=)
|
rs751898902
|
0.00001
|
|
NM_181426.2(CCDC39):c.1568G>A (p.Ser523Asn)
|
rs1418008218
|
0.00001
|
|
NM_181426.2(CCDC39):c.1611C>T (p.Asn537=)
|
rs370618523
|
0.00001
|
|
NM_181426.2(CCDC39):c.1620C>T (p.Ile540=)
|
rs776608064
|
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.1644del (p.Asp548fs)
|
rs863224531
|
0.00001
|
|
NM_181426.2(CCDC39):c.1665+1G>A
|
rs753580394
|
0.00001
|
|
NM_181426.2(CCDC39):c.1665+20A>C
|
rs1438064711
|
0.00001
|
|
NM_181426.2(CCDC39):c.1665+7T>C
|
rs1472202801
|
0.00001
|
|
NM_181426.2(CCDC39):c.1666-10A>G
|
rs768780348
|
0.00001
|
|
NM_181426.2(CCDC39):c.1666-11T>A
|
rs776871351
|
0.00001
|
|
NM_181426.2(CCDC39):c.1666-8G>A
|
rs747342645
|
0.00001
|
|
NM_181426.2(CCDC39):c.1687C>T (p.Leu563Phe)
|
rs373070816
|
0.00001
|
|
NM_181426.2(CCDC39):c.1689T>A (p.Leu563=)
|
rs778547991
|
0.00001
|
|
NM_181426.2(CCDC39):c.1716A>G (p.Arg572=)
|
rs375290163
|
0.00001
|
|
NM_181426.2(CCDC39):c.1825A>G (p.Met609Val)
|
rs762805319
|
0.00001
|
|
NM_181426.2(CCDC39):c.1848T>C (p.Tyr616=)
|
rs774871939
|
0.00001
|
|
NM_181426.2(CCDC39):c.1848del (p.Arg615_Tyr616insTer)
|
rs1576941580
|
0.00001
|
|
NM_181426.2(CCDC39):c.1878T>G (p.Thr626=)
|
rs760634837
|
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.1965A>G (p.Glu655=)
|
rs1365118715
|
0.00001
|
|
NM_181426.2(CCDC39):c.1998+10A>G
|
rs773640065
|
0.00001
|
|
NM_181426.2(CCDC39):c.1998+14del
|
rs779120394
|
0.00001
|
|
NM_181426.2(CCDC39):c.1999-2A>T
|
rs1399517463
|
0.00001
|
|
NM_181426.2(CCDC39):c.1999-3T>C
|
rs758649358
|
0.00001
|
|
NM_181426.2(CCDC39):c.2019A>G (p.Glu673=)
|
rs1717388626
|
0.00001
|
|
NM_181426.2(CCDC39):c.2079C>T (p.Tyr693=)
|
rs376782159
|
0.00001
|
|
NM_181426.2(CCDC39):c.210+17T>C
|
rs750145242
|
0.00001
|
|
NM_181426.2(CCDC39):c.2102T>G (p.Val701Gly)
|
rs980451572
|
0.00001
|
|
NM_181426.2(CCDC39):c.211-13T>G
|
rs991528026
|
0.00001
|
|
NM_181426.2(CCDC39):c.211-13del
|
rs2473826369
|
0.00001
|
|
NM_181426.2(CCDC39):c.2112C>T (p.Ser704=)
|
rs971075780
|
0.00001
|
|
NM_181426.2(CCDC39):c.2127T>C (p.Tyr709=)
|
rs765555238
|
0.00001
|
|
NM_181426.2(CCDC39):c.2159-13T>C
|
rs1299566024
|
0.00001
|
|
NM_181426.2(CCDC39):c.2194C>T (p.Gln732Ter)
|
rs1717357943
|
0.00001
|
|
NM_181426.2(CCDC39):c.2226C>A (p.Tyr742Ter)
|
rs772219642
|
0.00001
|
|
NM_181426.2(CCDC39):c.2265+11C>T
|
rs1431129577
|
0.00001
|
|
NM_181426.2(CCDC39):c.2280A>G (p.Thr760=)
|
rs886038749
|
0.00001
|
|
NM_181426.2(CCDC39):c.2284G>A (p.Asp762Asn)
|
rs1060502867
|
0.00001
|
|
NM_181426.2(CCDC39):c.2303C>T (p.Ala768Val)
|
rs1400344619
|
0.00001
|
|
NM_181426.2(CCDC39):c.231G>A (p.Glu77=)
|
rs763251719
|
0.00001
|
|
NM_181426.2(CCDC39):c.232C>T (p.Arg78Cys)
|
rs878855281
|
0.00001
|
|
NM_181426.2(CCDC39):c.2335C>T (p.Gln779Ter)
|
rs1717267418
|
0.00001
|
|
NM_181426.2(CCDC39):c.2349T>C (p.Phe783=)
|
rs747568407
|
0.00001
|
|
NM_181426.2(CCDC39):c.234T>G (p.Arg78=)
|
rs1198137880
|
0.00001
|
|
NM_181426.2(CCDC39):c.2353C>T (p.Leu785=)
|
rs190655280
|
0.00001
|
|
NM_181426.2(CCDC39):c.2367G>A (p.Thr789=)
|
rs201806641
|
0.00001
|
|
NM_181426.2(CCDC39):c.238A>G (p.Thr80Ala)
|
rs368066081
|
0.00001
|
|
NM_181426.2(CCDC39):c.2406+7A>G
|
rs1338617976
|
0.00001
|
|
NM_181426.2(CCDC39):c.2454T>C (p.Asp818=)
|
rs752482127
|
0.00001
|
|
NM_181426.2(CCDC39):c.24G>A (p.Glu8=)
|
rs756708494
|
0.00001
|
|
NM_181426.2(CCDC39):c.2550T>G (p.Thr850=)
|
rs771478702
|
0.00001
|
|
NM_181426.2(CCDC39):c.255T>C (p.His85=)
|
rs769151570
|
0.00001
|
|
NM_181426.2(CCDC39):c.2586+13C>A
|
rs550990897
|
0.00001
|
|
NM_181426.2(CCDC39):c.2586+1G>A
|
rs758362162
|
0.00001
|
|
NM_181426.2(CCDC39):c.2586+7C>A
|
rs753859178
|
0.00001
|
|
NM_181426.2(CCDC39):c.2613C>T (p.Ser871=)
|
rs960222324
|
0.00001
|
|
NM_181426.2(CCDC39):c.2642C>T (p.Ser881Phe)
|
rs1015604911
|
0.00001
|
|
NM_181426.2(CCDC39):c.2664A>G (p.Ser888=)
|
rs1307619593
|
0.00001
|
|
NM_181426.2(CCDC39):c.2669+10G>C
|
rs1163251409
|
0.00001
|
|
NM_181426.2(CCDC39):c.2669+11G>C
|
rs751853252
|
0.00001
|
|
NM_181426.2(CCDC39):c.2670-17T>G
|
rs571692210
|
0.00001
|
|
NM_181426.2(CCDC39):c.2784T>C (p.Ser928=)
|
rs771010943
|
0.00001
|
|
NM_181426.2(CCDC39):c.2817C>T (p.Ser939=)
|
rs200947486
|
0.00001
|
|
NM_181426.2(CCDC39):c.2823A>G (p.Lys941=)
|
rs751844801
|
0.00001
|
|
NM_181426.2(CCDC39):c.286C>T (p.Arg96Ter)
|
rs778577109
|
0.00001
|
|
NM_181426.2(CCDC39):c.294A>G (p.Lys98=)
|
rs975431618
|
0.00001
|
|
NM_181426.2(CCDC39):c.295G>C (p.Asp99His)
|
rs1711752429
|
0.00001
|
|
NM_181426.2(CCDC39):c.308G>A (p.Arg103Gln)
|
rs766541691
|
0.00001
|
|
NM_181426.2(CCDC39):c.327T>C (p.Ala109=)
|
rs1388193795
|
0.00001
|
|
NM_181426.2(CCDC39):c.331A>G (p.Ile111Val)
|
rs368618125
|
0.00001
|
|
NM_181426.2(CCDC39):c.347G>C (p.Ser116Thr)
|
rs181573011
|
0.00001
|
|
NM_181426.2(CCDC39):c.357+11A>G
|
rs1229232569
|
0.00001
|
|
NM_181426.2(CCDC39):c.358-19C>G
|
rs770550686
|
0.00001
|
|
NM_181426.2(CCDC39):c.388G>T (p.Asp130Tyr)
|
rs891215870
|
0.00001
|
|
NM_181426.2(CCDC39):c.389A>G (p.Asp130Gly)
|
rs781232118
|
0.00001
|
|
NM_181426.2(CCDC39):c.420G>A (p.Gln140=)
|
rs1183589611
|
0.00001
|
|
NM_181426.2(CCDC39):c.450A>G (p.Ser150=)
|
rs1288781779
|
0.00001
|
|
NM_181426.2(CCDC39):c.451del (p.Ala151fs)
|
rs1553805885
|
0.00001
|
|
NM_181426.2(CCDC39):c.470C>T (p.Ala157Val)
|
rs770405043
|
0.00001
|
|
NM_181426.2(CCDC39):c.516+11A>G
|
rs1436542350
|
0.00001
|
|
NM_181426.2(CCDC39):c.517-13A>G
|
rs776568115
|
0.00001
|
|
NM_181426.2(CCDC39):c.531A>G (p.Gln177=)
|
rs779897284
|
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.588T>G (p.Leu196=)
|
rs774527897
|
0.00001
|
|
NM_181426.2(CCDC39):c.606A>T (p.Ala202=)
|
rs771333687
|
0.00001
|
|
NM_181426.2(CCDC39):c.610-9G>A
|
rs777699746
|
0.00001
|
|
NM_181426.2(CCDC39):c.618G>C (p.Leu206Phe)
|
rs1048916587
|
0.00001
|
|
NM_181426.2(CCDC39):c.662A>G (p.Gln221Arg)
|
rs375385797
|
0.00001
|
|
NM_181426.2(CCDC39):c.664G>T (p.Glu222Ter)
|
rs1047910260
|
0.00001
|
|
NM_181426.2(CCDC39):c.669C>A (p.Leu223=)
|
rs774386573
|
0.00001
|
|
NM_181426.2(CCDC39):c.669_670insTA (p.Ile224Ter)
|
rs1711686356
|
0.00001
|
|
NM_181426.2(CCDC39):c.689C>T (p.Thr230Ile)
|
rs1445512588
|
0.00001
|
|
NM_181426.2(CCDC39):c.692T>C (p.Ile231Thr)
|
rs748172583
|
0.00001
|
|
NM_181426.2(CCDC39):c.738+11T>C
|
rs1429840152
|
0.00001
|
|
NM_181426.2(CCDC39):c.739-19A>G
|
rs1190737062
|
0.00001
|
|
NM_181426.2(CCDC39):c.73A>G (p.Lys25Glu)
|
rs746593370
|
0.00001
|
|
NM_181426.2(CCDC39):c.765G>A (p.Thr255=)
|
rs772215910
|
0.00001
|
|
NM_181426.2(CCDC39):c.781T>C (p.Leu261=)
|
rs576903465
|
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_181426.2(CCDC39):c.867A>G (p.Lys289=)
|
rs1164674720
|
0.00001
|
|
NM_181426.2(CCDC39):c.888A>G (p.Ala296=)
|
rs746093847
|
0.00001
|
|
NM_181426.2(CCDC39):c.90+15A>G
|
rs1264723666
|
0.00001
|
|
NM_181426.2(CCDC39):c.90+7T>A
|
rs1477817614
|
0.00001
|
|
NM_181426.2(CCDC39):c.91-4A>G
|
rs1271684516
|
0.00001
|
|
NM_181426.2(CCDC39):c.931-19T>C
|
rs2473814622
|
0.00001
|
|
NM_181426.2(CCDC39):c.984G>A (p.Leu328=)
|
rs2473814522
|
0.00001
|
|
NM_213607.3(DNAAF19):c.106G>A (p.Ala36Thr)
|
rs376733810
|
0.00001
|
|
NM_213607.3(DNAAF19):c.144-15G>A
|
rs748748516
|
0.00001
|
|
NM_213607.3(DNAAF19):c.144-1G>A
|
rs747091524
|
0.00001
|
|
NM_213607.3(DNAAF19):c.183G>C (p.Arg61=)
|
rs1357231396
|
0.00001
|
|
NM_213607.3(DNAAF19):c.264T>G (p.Thr88=)
|
rs746143004
|
0.00001
|
|
NM_213607.3(DNAAF19):c.276+10G>A
|
rs774203883
|
0.00001
|
|
NM_213607.3(DNAAF19):c.276+18C>T
|
rs2051551028
|
0.00001
|
|
NM_213607.3(DNAAF19):c.276+4G>A
|
rs373891184
|
0.00001
|
|
NM_213607.3(DNAAF19):c.277-12T>C
|
rs535155985
|
0.00001
|
|
NM_213607.3(DNAAF19):c.277G>A (p.Glu93Lys)
|
rs374023294
|
0.00001
|
|
NM_213607.3(DNAAF19):c.285C>A (p.Ala95=)
|
rs1402290968
|
0.00001
|
|
NM_213607.3(DNAAF19):c.319C>T (p.Arg107Cys)
|
rs1482981695
|
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.363G>A (p.Gln121=)
|
rs767842505
|
0.00001
|
|
NM_213607.3(DNAAF19):c.406C>T (p.Gln136Ter)
|
rs1470852605
|
0.00001
|
|
NM_213607.3(DNAAF19):c.413A>C (p.Asp138Ala)
|
rs372407548
|
0.00001
|
|
NM_213607.3(DNAAF19):c.437A>G (p.Glu146Gly)
|
rs1389269843
|
0.00001
|
|
NM_213607.3(DNAAF19):c.439C>T (p.Leu147=)
|
rs1178106681
|
0.00001
|
|
NM_213607.3(DNAAF19):c.500T>A (p.Leu167Gln)
|
rs764358359
|
0.00001
|
|
NM_213607.3(DNAAF19):c.501A>G (p.Leu167=)
|
rs374801461
|
0.00001
|
|
NM_213607.3(DNAAF19):c.513G>A (p.Ala171=)
|
rs557822238
|
0.00001
|
|
NM_213607.3(DNAAF19):c.530C>T (p.Thr177Ile)
|
rs1219108100
|
0.00001
|
|
NM_213607.3(DNAAF19):c.553C>T (p.Arg185Trp)
|
rs773807492
|
0.00001
|
|
NM_213607.3(DNAAF19):c.558A>C (p.Ala186=)
|
rs1034464450
|
0.00001
|
|
NM_213607.3(DNAAF19):c.567G>A (p.Glu189=)
|
rs771177851
|
0.00001
|
|
NM_213607.3(DNAAF19):c.5A>G (p.Glu2Gly)
|
rs890129325
|
0.00001
|
|
NM_213607.3(DNAAF19):c.675C>T (p.Leu225=)
|
rs1334032090
|
0.00001
|
|
NM_213607.3(DNAAF19):c.696G>A (p.Leu232=)
|
rs1184454267
|
0.00001
|
|
NM_213607.3(DNAAF19):c.705G>C (p.Leu235=)
|
rs878855312
|
0.00001
|
|
NM_213607.3(DNAAF19):c.720G>A (p.Gln240=)
|
rs776104645
|
0.00001
|
|
NM_213607.3(DNAAF19):c.72G>A (p.Glu24=)
|
rs752532336
|
0.00001
|
|
GRCh37/hg19 Xq22.3(chrX:105066840-106486528)
|
|
|
|
NC_000002.11:g.(?_26624838)_(26644288_?)dup
|
|
|
|
NC_000002.11:g.(?_26624858)_(26647342_?)del
|
|
|
|
NC_000002.11:g.(?_26644136)_(26644288_?)del
|
|
|
|
NC_000002.11:g.(?_26667070)_(26667836_?)del
|
|
|
|
NC_000002.12:g.(?_26440358)_(26444376_?)del
|
|
|
|
NC_000003.11:g.(?_180359761)_(180362065_?)del
|
|
|
|
NC_000003.11:g.(?_180359761)_(180397168_?)del
|
|
|
|
NC_000003.11:g.(?_180364847)_(180381794_?)del
|
|
|
|
NC_000003.11:g.(?_180365933)_(180381794_?)dup
|
|
|
|
NC_000003.11:g.(?_180369169)_(180369341_?)dup
|
|
|
|
NC_000003.11:g.(?_180369931)_(180372761_?)dup
|
|
|
|
NC_000003.11:g.(?_180378451)_(180407060_?)del
|
|
|
|
NC_000003.11:g.(?_180379629)_(180379815_?)dup
|
|
|
|
NC_000003.11:g.(?_180381635)_(180397168_?)del
|
|
|
|
NC_000003.11:g.(?_180397059)_(180397168_?)del
|
|
|
|
NC_000003.11:g.(?_180397059)_(180397168_?)dup
|
|
|
|
NC_000003.11:g.(?_49866536)_(50540854_?)dup
|
|
|
|
NC_000003.12:g.(?_180651381)_(180651553_?)del
|
|
|
|
NC_000003.12:g.(?_180652143)_(180652286_?)del
|
|
|
|
NC_000003.12:g.180651534del
|
rs1553804640
|
|
|
NC_000003.12:g.180652267_180652268insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAATCCAGC
|
rs2473814576
|
|
|
NC_000005.10:g.(?_13691964)_(13944458_?)del
|
|
|
|
NC_000005.10:g.(?_13718872)_(13721255_?)del
|
|
|
|
NC_000005.10:g.(?_13765956)_(13769635_?)del
|
|
|
|
NC_000005.10:g.(?_13765966)_(13769625_?)del
|
|
|
|
NC_000005.10:g.(?_13768960)_(13794058_?)del
|
|
|
|
NC_000005.10:g.(?_13791974)_(13944458_?)dup
|
|
|
|
NC_000005.10:g.(?_13791974)_(13944517_?)dup
|
|
|
|
NC_000005.10:g.(?_13809024)_(13811843_?)del
|
|
|
|
NC_000005.10:g.(?_13824199)_(13830775_?)del
|
|
|
|
NC_000005.10:g.(?_13830078)_(13842859_?)del
|
|
|
|
NC_000005.10:g.(?_13864377)_(13868012_?)del
|
|
|
|
NC_000005.10:g.(?_13864387)_(13868002_?)del
|
|
|
|
NC_000005.10:g.(?_13876664)_(13914662_?)del
|
|
|
|
NC_000005.10:g.(?_13913723)_(13913978_?)del
|
|
|
|
NC_000005.10:g.13714619CT[1]
|
rs2126493943
|
|
|
NC_000005.10:g.13769609ATTC[1]
|
rs1580143916
|
|
|
NC_000005.10:g.13829680_13829681delinsT
|
rs1060501457
|
|
|
NC_000005.10:g.13830078_13842859del
|
|
|
|
NC_000005.10:g.13864487_13874687del
|
|
|
|
NC_000005.10:g.13886130del
|
rs2547043262
|
|
|
NC_000005.9:g.(?_13692073)_(13692264_?)dup
|
|
|
|
NC_000005.9:g.(?_13692093)_(13754467_?)dup
|
|
|
|
NC_000005.9:g.(?_13692093)_(13923569_?)del
|
|
|
|
NC_000005.9:g.(?_13692093)_(13931373_?)del
|
|
|
|
NC_000005.9:g.(?_13700739)_(13763020_?)dup
|
|
|
|
NC_000005.9:g.(?_13716586)_(13721364_?)del
|
|
|
|
NC_000005.9:g.(?_13716776)_(13717798_?)del
|
|
|
|
NC_000005.9:g.(?_13727596)_(13777484_?)dup
|
|
|
|
NC_000005.9:g.(?_13729538)_(13771099_?)dup
|
|
|
|
NC_000005.9:g.(?_13751177)_(13754457_?)del
|
|
|
|
NC_000005.9:g.(?_13753332)_(13754457_?)del
|
|
|
|
NC_000005.9:g.(?_13769049)_(13769744_?)del
|
|
|
|
NC_000005.9:g.(?_13769049)_(13771109_?)del
|
|
|
|
NC_000005.9:g.(?_13769059)_(13794177_?)del
|
|
|
|
NC_000005.9:g.(?_13773108)_(13786393_?)del
|
|
|
|
NC_000005.9:g.(?_13780928)_(13781078_?)del
|
|
|
|
NC_000005.9:g.(?_13781021)_(13781991_?)del
|
|
|
|
NC_000005.9:g.(?_13792083)_(13792346_?)del
|
|
|
|
NC_000005.9:g.(?_13792093)_(13794177_?)del
|
|
|
|
NC_000005.9:g.(?_13792093)_(13944557_?)dup
|
|
|
|
NC_000005.9:g.(?_13792102)_(14184284_?)dup
|
|
|
|
NC_000005.9:g.(?_13793604)_(13794187_?)del
|
|
|
|
NC_000005.9:g.(?_13807680)_(13845122_?)del
|
|
|
|
NC_000005.9:g.(?_13809143)_(13810379_?)del
|
|
|
|
NC_000005.9:g.(?_13814806)_(13816871_?)del
|
|
|
|
NC_000005.9:g.(?_13817647)_(13820618_?)del
|
|
|
|
NC_000005.9:g.(?_13820435)_(13820628_?)del
|
|
|
|
NC_000005.9:g.(?_13823362)_(13944557_?)del
|
|
|
|
NC_000005.9:g.(?_13824302)_(13830890_?)del
|
|
|
|
NC_000005.9:g.(?_13839445)_(13845122_?)del
|
|
|
|
NC_000005.9:g.(?_13840995)_(13841259_?)del
|
|
|
|
NC_000005.9:g.(?_13841005)_(13841249_?)del
|
|
|
|
NC_000005.9:g.(?_13844936)_(13845112_?)del
|
|
|
|
NC_000005.9:g.(?_13850741)_(13850944_?)del
|
|
|
|
NC_000005.9:g.(?_13859541)_(13866035_?)del
|
|
|
|
NC_000005.9:g.(?_13864596)_(13874796_?)del
|
|
|
|
NC_000005.9:g.(?_13886063)_(13911612_?)dup
|
|
|
|
NC_000005.9:g.(?_13894749)_(13917375_?)del
|
|
|
|
NC_000005.9:g.(?_13899162)_(13901374_?)del
|
|
|
|
NC_000005.9:g.(?_13900295)_(13901702_?)del
|
|
|
|
NC_000005.9:g.(?_13900305)_(13944557_?)del
|
|
|
|
NC_000005.9:g.(?_13917246)_(13919467_?)del
|
|
|
|
NC_000005.9:g.(?_13917269)_(13919732_?)del
|
|
|
|
NC_000005.9:g.(?_13922434)_(13923774_?)del
|
|
|
|
NC_000005.9:g.(?_13922434)_13923774del
|
|
|
|
NC_000005.9:g.(?_13922436)_13923774del
|
|
|
|
NC_000005.9:g.(?_13923379)_(13923559_?)del
|
|
|
|
NC_000005.9:g.(?_13928183)_(13928307_?)dup
|
|
|
|
NC_000005.9:g.(?_13931199)_(13931373_?)del
|
|
|
|
NC_000005.9:g.(?_13931209)_(13931363_?)del
|
|
|
|
NC_000005.9:g.(?_54518759)_(54518871_?)del
|
|
|
|
NC_000005.9:g.(?_54527203)_(54529351_?)dup
|
|
|
|
NC_000006.11:g.(?_116937787)_(117252669_?)dup
|
|
|
|
NC_000006.11:g.(?_38690586)_(38697782_?)del
|
|
|
|
NC_000006.11:g.(?_38702230)_(38709683_?)del
|
|
|
|
NC_000006.11:g.(?_38743510)_(38843624_?)dup
|
|
|
|
NC_000006.11:g.(?_38754521)_(38759470_?)del
|
|
|
|
NC_000006.11:g.(?_38881605)_(38885936_?)del
|
|
|
|
NC_000006.11:g.(?_38939348)_(38942325_?)del
|
|
|
|
NC_000006.12:g.(?_38737047)_(38750609_?)del
|
|
|
|
NC_000006.12:g.38973662dup
|
rs1299196993
|
|
|
NC_000007.13:g.(?_20994491)_(23030730_?)del
|
|
|
|
NC_000007.13:g.(?_20994491)_(23213917_?)dup
|
|
|
|
NC_000007.13:g.(?_21582864)_(21584787_?)del
|
|
|
|
NC_000007.13:g.(?_21582864)_(21678703_?)dup
|
|
|
|
NC_000007.13:g.(?_21598400)_(21600808_?)del
|
|
|
|
NC_000007.13:g.(?_21598400)_(21751498_?)del
|
|
|
|
NC_000007.13:g.(?_21605286)_(21609749_?)del
|
|
|
|
NC_000007.13:g.(?_21609667)_(21631215_?)dup
|
|
|
|
NC_000007.13:g.(?_21609667)_(21765622_?)del
|
|
|
|
NC_000007.13:g.(?_21723382)_(21727165_?)del
|
|
|
|
NC_000007.13:g.(?_21723382)_(21730519_?)del
|
|
|
|
NC_000007.13:g.(?_21743309)_(21745099_?)del
|
|
|
|
NC_000007.13:g.(?_21749700)_(21750193_?)del
|
|
|
|
NC_000007.13:g.(?_21757118)_(21760444_?)del
|
|
|
|
NC_000007.13:g.(?_21757373)_(21760494_?)dup
|
|
|
|
NC_000007.13:g.(?_21765562)_(21767028_?)del
|
|
|
|
NC_000007.13:g.(?_21775238)_(21847687_?)del
|
|
|
|
NC_000007.13:g.(?_21779281)_(21779934_?)del
|
|
|
|
NC_000007.13:g.(?_21779281)_(21779936_?)del
|
|
|
|
NC_000007.13:g.(?_21779282)_(21779935_?)del
|
|
|
|
NC_000007.13:g.(?_21784036)_(21790002_?)del
|
|
|
|
NC_000007.13:g.(?_21818556)_(21882386_?)del
|
|
|
|
NC_000007.13:g.(?_21824025)_(21828980_?)del
|
|
|
|
NC_000007.13:g.(?_21892065)_(21904295_?)del
|
|
|
|
NC_000007.13:g.(?_21906149)_(21912323_?)del
|
|
|
|
NC_000007.13:g.(?_21920300)_(21924048_?)dup
|
|
|
|
NC_000007.13:g.(?_766358)_(769504_?)del
|
|
|
|
NC_000007.13:g.(?_766358)_(781122_?)dup
|
|
|
|
NC_000007.13:g.(?_766358)_(825290_?)del
|
|
|
|
NC_000007.13:g.(?_794206)_(825290_?)del
|
|
|
|
NC_000007.13:g.(?_825134)_(825290_?)del
|
|
|
|
NC_000007.14:g.(?_21655812)_(21656001_?)del
|
|
|
|
NC_000007.14:g.(?_21681526)_(21745083_?)dup
|
|
|
|
NC_000007.14:g.(?_21683764)_(21683964_?)del
|
|
|
|
NC_000007.14:g.(?_21698055)_(21765609_?)del
|
|
|
|
NC_000007.14:g.(?_21710533)_(21711880_?)dup
|
|
|
|
NC_000007.14:g.(?_21735620)_(21739693_?)del
|
|
|
|
NC_000007.14:g.(?_21735620)_(21750384_?)del
|
|
|
|
NC_000007.14:g.(?_21892405)_(21895019_?)del
|
|
|
|
NC_000007.14:g.(?_785511)_(785658_?)del
|
|
|
|
NC_000007.14:g.21894887del
|
rs2128049034
|
|
|
NC_000009.11:g.(?_32453279)_(37785041_?)dup
|
|
|
|
NC_000009.11:g.(?_34483426)_(34520754_?)del
|
|
|
|
NC_000009.11:g.(?_34489301)_(34491572_?)del
|
|
|
|
NC_000009.11:g.(?_34489311)_(34489457_?)del
|
|
|
|
NC_000009.11:g.(?_34489311)_(34493336_?)del
|
|
|
|
NC_000009.11:g.(?_34489311)_(34520764_?)del
|
|
|
|
NC_000009.11:g.(?_34513100)_(34514747_?)del
|
|
|
|
NC_000009.11:g.(?_34520636)_(34520754_?)dup
|
|
|
|
NC_000014.8:g.(?_50050385)_(50118115_?)dup
|
|
|
|
NC_000015.10:g.(?_55430650)_(55432622_?)del
|
|
|
|
NC_000015.10:g.(?_55430664)_(55432608_?)del
|
|
|
|
NC_000015.10:g.(?_55450222)_(55450367_?)del
|
|
|
|
NC_000016.10:g.(?_84148987)_(84150362_?)del
|
|
|
|
NC_000016.9:g.(?_83932750)_(84211465_?)dup
|
|
|
|
NC_000016.9:g.(?_84179046)_(84193421_?)del
|
|
|
|
NC_000016.9:g.(?_84179046)_(84211465_?)del
|
|
|
|
NC_000016.9:g.(?_84182606)_(84211452_?)del
|
|
|
|
NC_000016.9:g.(?_84188162)_(84203982_?)del
|
|
|
|
NC_000016.9:g.(?_84193260)_(84193421_?)del
|
|
|
|
NC_000016.9:g.(?_84199369)_(84199575_?)del
|
|
|
|
NC_000017.10:g.(?_72277936)_(72281350_?)del
|
|
|
|
NC_000017.10:g.(?_72277937)_(72310375_?)dup
|
|
|
|
NC_000017.10:g.(?_72277946)_(72310410_?)dup
|
|
|
|
NC_000017.10:g.(?_72277957)_(72310355_?)del
|
|
|
|
NC_000017.10:g.(?_72277957)_(72310355_?)dup
|
|
|
|
NC_000017.10:g.(?_72281159)_(72283257_?)dup
|
|
|
|
NC_000017.10:g.(?_72281159)_(72285895_?)del
|
|
|
|
NC_000017.10:g.(?_72283106)_(72283247_?)del
|
|
|
|
NC_000017.10:g.(?_72283110)_(72283243_?)dup
|
|
|
|
NC_000017.10:g.(?_72285723)_(72287282_?)del
|
|
|
|
NC_000017.10:g.(?_72287139)_(72287292_?)del
|
|
|
|
NC_000017.10:g.(?_72295837)_(72297327_?)del
|
|
|
|
NC_000017.10:g.(?_72295847)_(72296006_?)del
|
|
|
|
NC_000017.10:g.(?_72295847)_(72309109_?)dup
|
|
|
|
NC_000017.10:g.(?_72297165)_(72310355_?)del
|
|
|
|
NC_000017.10:g.(?_72297175)_(72301591_?)dup
|
|
|
|
NC_000017.10:g.(?_72305382)_(72306312_?)del
|
|
|
|
NC_000017.10:g.(?_78021971)_(78024070_?)del
|
|
|
|
NC_000017.10:g.(?_78039264)_(78039425_?)del
|
|
|
|
NC_000017.10:g.(?_78071024)_(78073574_?)dup
|
|
|
|
NC_000017.10:g.(?_78071024)_(78073594_?)dup
|
|
|
|
NC_000017.10:g.(?_78071044)_(78074412_?)dup
|
|
|
|
NC_000017.11:g.(?_74274200)_(74289746_?)del
|
|
|
|
NC_000017.11:g.(?_74299698)_(74305462_?)del
|
|
|
|
NC_000017.11:g.(?_74299708)_(74305452_?)del
|
|
|
|
NC_000017.11:g.(?_74309243)_(74310173_?)dup
|
|
|
|
NC_000017.11:g.(?_80058474)_(80059000_?)del
|
|
|
|
NC_000017.11:g.(?_80085983)_(80095471_?)dup
|
|
|
|
NC_000017.11:g.74285040del
|
rs2509692411
|
|
|
NC_000019.10:g.(?_48296956)_(48312136_?)dup
|
|
|
|
NC_000019.10:g.(?_48302674)_(48312136_?)dup
|
|
|
|
NC_000019.10:g.55166616C>G
|
rs1188556854
|
|
|
NC_000019.9:g.(?_48800233)_(48809600_?)del
|
|
|
|
NC_000019.9:g.(?_48809493)_(48809600_?)del
|
|
|
|
NC_000019.9:g.(?_48821624)_(48822028_?)del
|
|
|
|
NC_000019.9:g.(?_55644283)_(55678016_?)del
|
|
|
|
NC_000019.9:g.(?_55663202)_(55678016_?)dup
|
|
|
|
NC_000019.9:g.(?_55670410)_(55678036_?)dup
|
|
|
|
NC_000021.8:g.(?_43160998)_(47865240_?)dup
|
|
|
|
NC_000021.8:g.(?_43892908)_(44592410_?)dup
|
|
|
|
NC_000021.8:g.(?_43892908)_(45629566_?)del
|
|
|
|
NC_000021.8:g.(?_43892908)_(45629566_?)dup
|
|
|
|
NC_000021.8:g.(?_43892928)_(43893000_?)dup
|
|
|
|
NC_000021.8:g.(?_43892928)_(43916296_?)del
|
|
|
|
NC_000021.8:g.(?_43912848)_(43916296_?)del
|
|
|
|
NC_000023.10:g.(?_37545209)_(38186626_?)dup
|
|
|
|
NC_000023.10:g.(?_37545215)_(38280335_?)del
|
|
|
|
NC_000023.10:g.(?_38128879)_(38280335_?)del
|
|
|
|
NC_000023.10:g.(?_38128879)_(38280335_?)dup
|
|
|
|
NC_000023.10:g.(?_38132619)_(38164063_?)del
|
|
|
|
NC_000023.10:g.(?_38146328)_(38150297_?)del
|
|
|
|
NC_000023.10:g.(?_38150626)_(38150757_?)del
|
|
|
|
NC_000023.10:g.(?_38156517)_(38164063_?)dup
|
|
|
|
NC_000023.10:g.(?_38156517)_(38240702_?)dup
|
|
|
|
NC_000023.10:g.(?_38160137)_(38160644_?)del
|
|
|
|
NC_000023.10:g.(?_38164030)_(38197811_?)del
|
|
|
|
NC_000023.10:g.(?_38169848)_(38182797_?)dup
|
|
|
|
NC_000023.10:g.(?_38176549)_(38215080_?)dup
|
|
|
|
NC_000023.10:g.(?_38178062)_(38180362_?)del
|
|
|
|
NC_000023.10:g.(?_38182086)_(38182797_?)del
|
|
|
|
NC_000023.10:g.(?_38186573)_(38186620_?)del
|
|
|
|
NC_000023.11:g.(?_38269606)_(38269852_?)dup
|
|
|
|
NC_000023.11:g.(?_38269606)_(38310793_?)dup
|
|
|
|
NC_000023.11:g.(?_38269606)_(38421102_?)del
|
|
|
|
NC_000023.11:g.38269680C>T
|
rs908692647
|
|
|
NC_000023.11:g.38269681T>A
|
|
|
|
NC_000023.11:g.38269693C>T
|
|
|
|
NC_000023.11:g.38269719A>G
|
rs2519740019
|
|
|
NC_000023.11:g.38269735A>C
|
rs2519740070
|
|
|
NC_000023.11:g.38269735A>G
|
rs2519740070
|
|
|
NC_000023.11:g.38269738A>G
|
rs2519740096
|
|
|
NC_000023.11:g.38269749T>G
|
rs759644180
|
|
|
NC_000023.11:g.38269767G>C
|
|
|
|
NC_000023.11:g.38269777T>C
|
rs1018760621
|
|
|
NC_000023.11:g.38269788G>C
|
rs779757462
|
|
|
NC_000023.11:g.38269809G>A
|
rs2066802091
|
|
|
NC_000023.11:g.38269815T>C
|
rs281865309
|
|
|
NC_000023.11:g.38273374_38273375delinsGG
|
rs2519748822
|
|
|
NC_000023.11:g.38273376T>C
|
rs976794778
|
|
|
NC_000023.11:g.38273403T>C
|
rs2519748996
|
|
|
NC_000023.11:g.38273446T>C
|
|
|
|
NC_000023.11:g.38273471A>C
|
rs1399519309
|
|
|
NC_000023.11:g.38273476T>A
|
rs2519749338
|
|
|
NC_000023.11:g.38273487G>A
|
rs2519749394
|
|
|
NC_000023.11:g.38275070T>C
|
rs2519753904
|
|
|
NC_000023.11:g.38275077A>G
|
rs2519753923
|
|
|
NC_000023.11:g.38275079G>A
|
|
|
|
NC_000023.11:g.38275085A>C
|
rs945212131
|
|
|
NC_000023.11:g.38275103T>C
|
rs2519754025
|
|
|
NC_000023.11:g.38275136G>A
|
rs768757205
|
|
|
NC_000023.11:g.38276573A>T
|
|
|
|
NC_000023.11:g.38276574T>C
|
rs2519757211
|
|
|
NC_000023.11:g.38276580A>G
|
rs1369341260
|
|
|
NC_000023.11:g.38276591T>C
|
rs2519757288
|
|
|
NC_000023.11:g.38276591T>G
|
|
|
|
NC_000023.11:g.38276602A>T
|
rs2519757334
|
|
|
NC_000023.11:g.38276606G>A
|
rs2519757364
|
|
|
NC_000023.11:g.38276615T>C
|
|
|
|
NC_000023.11:g.38276618T>C
|
|
|
|
NC_000023.11:g.38276626T>C
|
rs2519757490
|
|
|
NC_000023.11:g.38276656T>C
|
|
|
|
NC_000023.11:g.38276666C>T
|
rs2519757661
|
|
|
NC_000023.11:g.38276669T>C
|
rs2519757685
|
|
|
NC_000023.11:g.38276679C>T
|
rs2066943017
|
|
|
NC_000023.11:g.38276682C>G
|
rs2147169038
|
|
|
NC_000023.11:g.38276774T>C
|
rs2519758093
|
|
|
NC_000023.11:g.38276775G>A
|
|
|
|
NC_000023.11:g.38276784T>C
|
rs2519758141
|
|
|
NM_000328.2(RPGR):c.-168-?_*456+?dup
|
|
|
|
NM_000328.3(RPGR):c.1906-8del
|
rs2519758114
|
|
|
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.2241+17_2241+18del
|
rs777027580
|
|
|
NM_000328.3(RPGR):c.2242-6dup
|
rs772487554
|
|
|
NM_000328.3(RPGR):c.2350_2352del (p.Asp784del)
|
|
|
|
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.*38AC[6]
|
rs149281216
|
|
|
NM_001010892.3(RSPH4A):c.-16_-12delinsCACGCCCCTTTCATCCA
|
rs727504884
|
|
|
NM_001010892.3(RSPH4A):c.-17_-16insCACGCCCCT
|
rs534111713
|
|
|
NM_001010892.3(RSPH4A):c.1003T>C (p.Tyr335His)
|
rs1490552419
|
|
|
NM_001010892.3(RSPH4A):c.1011_1012del (p.Phe338fs)
|
rs1775719317
|
|
|
NM_001010892.3(RSPH4A):c.1033A>G (p.Thr345Ala)
|
|
|
|
NM_001010892.3(RSPH4A):c.1036G>C (p.Asp346His)
|
|
|
|
NM_001010892.3(RSPH4A):c.104C>A (p.Ser35Tyr)
|
rs2482776945
|
|
|
NM_001010892.3(RSPH4A):c.1068G>A (p.Trp356Ter)
|
rs371374918
|
|
|
NM_001010892.3(RSPH4A):c.1078T>C (p.Leu360=)
|
rs2482802764
|
|
|
NM_001010892.3(RSPH4A):c.1082G>A (p.Gly361Asp)
|
rs757303224
|
|
|
NM_001010892.3(RSPH4A):c.1086G>C (p.Leu362=)
|
rs746335904
|
|
|
NM_001010892.3(RSPH4A):c.1108G>T (p.Glu370Ter)
|
|
|
|
NM_001010892.3(RSPH4A):c.110C>G (p.Pro37Arg)
|
rs2115350900
|
|
|
NM_001010892.3(RSPH4A):c.1113G>A (p.Val371=)
|
rs2482802908
|
|
|
NM_001010892.3(RSPH4A):c.111_125del (p.Glu38_Pro42del)
|
rs776700072
|
|
|
NM_001010892.3(RSPH4A):c.1131A>G (p.Glu377=)
|
rs1163511438
|
|
|
NM_001010892.3(RSPH4A):c.1185A>C (p.Glu395Asp)
|
rs2482803199
|
|
|
NM_001010892.3(RSPH4A):c.11C>G (p.Ser4Ter)
|
rs1554247978
|
|
|
NM_001010892.3(RSPH4A):c.1234A>G (p.Lys412Glu)
|
|
|
|
NM_001010892.3(RSPH4A):c.1237G>A (p.Ala413Thr)
|
rs754023097
|
|
|
NM_001010892.3(RSPH4A):c.1248T>A (p.Ala416=)
|
rs758942449
|
|
|
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>A (p.Arg423Lys)
|
rs2115361973
|
|
|
NM_001010892.3(RSPH4A):c.1268G>C (p.Arg423Thr)
|
rs2115361973
|
|
|
NM_001010892.3(RSPH4A):c.1309C>G (p.Pro437Ala)
|
|
|
|
NM_001010892.3(RSPH4A):c.1323G>A (p.Trp441Ter)
|
|
|
|
NM_001010892.3(RSPH4A):c.1330T>C (p.Leu444=)
|
|
|
|
NM_001010892.3(RSPH4A):c.1370A>G (p.Lys457Arg)
|
rs1775729139
|
|
|
NM_001010892.3(RSPH4A):c.1376A>T (p.Lys459Met)
|
rs2482803744
|
|
|
NM_001010892.3(RSPH4A):c.1404T>C (p.Ala468=)
|
rs2115362226
|
|
|
NM_001010892.3(RSPH4A):c.1407del (p.Ile470fs)
|
rs2115362230
|
|
|
NM_001010892.3(RSPH4A):c.1410C>T (p.Ile470=)
|
rs775326896
|
|
|
NM_001010892.3(RSPH4A):c.1419C>T (p.Tyr473=)
|
rs2482803952
|
|
|
NM_001010892.3(RSPH4A):c.1424C>A (p.Pro475His)
|
|
|
|
NM_001010892.3(RSPH4A):c.144G>T (p.Gly48=)
|
rs112350099
|
|
|
NM_001010892.3(RSPH4A):c.145C>A (p.Pro49Thr)
|
rs983632022
|
|
|
NM_001010892.3(RSPH4A):c.1487A>C (p.His496Pro)
|
rs2482804164
|
|
|
NM_001010892.3(RSPH4A):c.150A>G (p.Glu50=)
|
|
|
|
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.152C>G (p.Thr51Ser)
|
rs373900879
|
|
|
NM_001010892.3(RSPH4A):c.1545G>A (p.Glu515=)
|
rs1775734186
|
|
|
NM_001010892.3(RSPH4A):c.1558C>A (p.Arg520=)
|
|
|
|
NM_001010892.3(RSPH4A):c.1564A>G (p.Ser522Gly)
|
rs977234347
|
|
|
NM_001010892.3(RSPH4A):c.1566C>T (p.Ser522=)
|
|
|
|
NM_001010892.3(RSPH4A):c.15C>T (p.Thr5=)
|
rs2115350772
|
|
|
NM_001010892.3(RSPH4A):c.1606G>C (p.Asp536His)
|
|
|
|
NM_001010892.3(RSPH4A):c.1641T>C (p.His547=)
|
rs201238941
|
|
|
NM_001010892.3(RSPH4A):c.1641T>G (p.His547Gln)
|
rs201238941
|
|
|
NM_001010892.3(RSPH4A):c.1662+13C>T
|
|
|
|
NM_001010892.3(RSPH4A):c.1662+2T>C
|
|
|
|
NM_001010892.3(RSPH4A):c.1662+2_1662+5del
|
rs768986129
|
|
|
NM_001010892.3(RSPH4A):c.1662+8C>A
|
rs1350222184
|
|
|
NM_001010892.3(RSPH4A):c.1663-16C>T
|
rs2482807437
|
|
|
NM_001010892.3(RSPH4A):c.1690C>T (p.Gln564Ter)
|
rs1554249521
|
|
|
NM_001010892.3(RSPH4A):c.1690del (p.Gln564fs)
|
rs1775758975
|
|
|
NM_001010892.3(RSPH4A):c.1704AGA[2] (p.Glu573del)
|
rs757198203
|
|
|
NM_001010892.3(RSPH4A):c.1707del (p.Glu570fs)
|
rs902750903
|
|
|
NM_001010892.3(RSPH4A):c.1716AGA[1] (p.Glu573del)
|
rs370030988
|
|
|
NM_001010892.3(RSPH4A):c.1719A>T (p.Glu573Asp)
|
|
|
|
NM_001010892.3(RSPH4A):c.1732_1733del (p.Asp578fs)
|
rs750219987
|
|
|
NM_001010892.3(RSPH4A):c.1735G>A (p.Asp579Asn)
|
|
|
|
NM_001010892.3(RSPH4A):c.1741G>A (p.Asp581Asn)
|
|
|
|
NM_001010892.3(RSPH4A):c.1752A>G (p.Glu584=)
|
rs914594241
|
|
|
NM_001010892.3(RSPH4A):c.1771C>T (p.Leu591Phe)
|
|
|
|
NM_001010892.3(RSPH4A):c.1774_1775del (p.Leu592fs)
|
rs780292620
|
|
|
NM_001010892.3(RSPH4A):c.1778C>T (p.Thr593Ile)
|
|
|
|
NM_001010892.3(RSPH4A):c.1798+11G>C
|
rs41290844
|
|
|
NM_001010892.3(RSPH4A):c.1799-13_1799-12del
|
|
|
|
NM_001010892.3(RSPH4A):c.1803T>A (p.Ile601=)
|
rs759290763
|
|
|
NM_001010892.3(RSPH4A):c.1814C>G (p.Pro605Arg)
|
rs775186734
|
|
|
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.1818dup (p.Trp607fs)
|
rs748664881
|
|
|
NM_001010892.3(RSPH4A):c.1821G>A (p.Trp607Ter)
|
rs2482810069
|
|
|
NM_001010892.3(RSPH4A):c.1829G>C (p.Arg610Pro)
|
rs751741926
|
|
|
NM_001010892.3(RSPH4A):c.1838C>G (p.Ser613Ter)
|
rs1775776645
|
|
|
NM_001010892.3(RSPH4A):c.1852C>T (p.Gln618Ter)
|
rs2482810190
|
|
|
NM_001010892.3(RSPH4A):c.1858G>C (p.Ala620Pro)
|
rs1775776988
|
|
|
NM_001010892.3(RSPH4A):c.1867G>A (p.Val623Ile)
|
rs1562392873
|
|
|
NM_001010892.3(RSPH4A):c.1873C>T (p.Gln625Ter)
|
rs377489011
|
|
|
NM_001010892.3(RSPH4A):c.1896A>G (p.Ala632=)
|
|
|
|
NM_001010892.3(RSPH4A):c.18C>T (p.Ser6=)
|
rs1775506799
|
|
|
NM_001010892.3(RSPH4A):c.1916+2dup
|
|
|
|
NM_001010892.3(RSPH4A):c.1917-2A>C
|
rs2482814540
|
|
|
NM_001010892.3(RSPH4A):c.1919A>T (p.Lys640Met)
|
|
|
|
NM_001010892.3(RSPH4A):c.1932_1935del (p.Phe644fs)
|
rs2482814588
|
|
|
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.2010dup (p.Ser671fs)
|
rs1400425886
|
|
|
NM_001010892.3(RSPH4A):c.2011A>G (p.Ser671Gly)
|
rs2482814903
|
|
|
NM_001010892.3(RSPH4A):c.203A>G (p.Lys68Arg)
|
rs748597085
|
|
|
NM_001010892.3(RSPH4A):c.203dup (p.Thr69fs)
|
rs2115351044
|
|
|
NM_001010892.3(RSPH4A):c.2055G>C (p.Glu685Asp)
|
rs2115368533
|
|
|
NM_001010892.3(RSPH4A):c.2071G>A (p.Ala691Thr)
|
rs2115368553
|
|
|
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.224C>T (p.Ala75Val)
|
rs553472573
|
|
|
NM_001010892.3(RSPH4A):c.236C>T (p.Thr79Ile)
|
rs1775512553
|
|
|
NM_001010892.3(RSPH4A):c.255C>T (p.Val85=)
|
rs759417066
|
|
|
NM_001010892.3(RSPH4A):c.261G>A (p.Pro87=)
|
rs1060504544
|
|
|
NM_001010892.3(RSPH4A):c.272C>G (p.Ser91Cys)
|
|
|
|
NM_001010892.3(RSPH4A):c.281C>T (p.Pro94Leu)
|
rs1397332406
|
|
|
NM_001010892.3(RSPH4A):c.282T>C (p.Pro94=)
|
|
|
|
NM_001010892.3(RSPH4A):c.296C>T (p.Pro99Leu)
|
rs1775514576
|
|
|
NM_001010892.3(RSPH4A):c.330G>A (p.Ser110=)
|
|
|
|
NM_001010892.3(RSPH4A):c.335_337delinsTAC (p.Arg112_Thr113delinsIlePro)
|
rs2115351269
|
|
|
NM_001010892.3(RSPH4A):c.375T>C (p.Pro125=)
|
rs2482778089
|
|
|
NM_001010892.3(RSPH4A):c.389A>G (p.Gln130Arg)
|
rs2482778128
|
|
|
NM_001010892.3(RSPH4A):c.396T>C (p.Ser132=)
|
rs766758184
|
|
|
NM_001010892.3(RSPH4A):c.418C>A (p.His140Asn)
|
rs753180816
|
|
|
NM_001010892.3(RSPH4A):c.426A>T (p.Thr142=)
|
|
|
|
NM_001010892.3(RSPH4A):c.453A>G (p.Gln151=)
|
|
|
|
NM_001010892.3(RSPH4A):c.456G>A (p.Gln152=)
|
|
|
|
NM_001010892.3(RSPH4A):c.461A>G (p.Gln154Arg)
|
rs1775520006
|
|
|
NM_001010892.3(RSPH4A):c.462_469del (p.Gln155fs)
|
rs1428623016
|
|
|
NM_001010892.3(RSPH4A):c.465A>G (p.Gln155=)
|
rs2482778503
|
|
|
NM_001010892.3(RSPH4A):c.46G>C (p.Glu16Gln)
|
rs780975506
|
|
|
NM_001010892.3(RSPH4A):c.479del (p.Leu160fs)
|
rs2115351492
|
|
|
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.512C>T (p.Ala171Val)
|
rs2482778678
|
|
|
NM_001010892.3(RSPH4A):c.517C>T (p.Gln173Ter)
|
rs1244173581
|
|
|
NM_001010892.3(RSPH4A):c.522dup (p.Glu175fs)
|
rs1444391928
|
|
|
NM_001010892.3(RSPH4A):c.555C>T (p.Asp185=)
|
|
|
|
NM_001010892.3(RSPH4A):c.570T>C (p.Tyr190=)
|
rs1237732456
|
|
|
NM_001010892.3(RSPH4A):c.574T>A (p.Leu192Ile)
|
|
|
|
NM_001010892.3(RSPH4A):c.585G>T (p.Pro195=)
|
rs1562388031
|
|
|
NM_001010892.3(RSPH4A):c.586G>A (p.Ala196Thr)
|
rs1436446801
|
|
|
NM_001010892.3(RSPH4A):c.587C>T (p.Ala196Val)
|
|
|
|
NM_001010892.3(RSPH4A):c.613A>G (p.Ser205Gly)
|
rs1583346221
|
|
|
NM_001010892.3(RSPH4A):c.646G>A (p.Ala216Thr)
|
|
|
|
NM_001010892.3(RSPH4A):c.646G>T (p.Ala216Ser)
|
rs1390787423
|
|
|
NM_001010892.3(RSPH4A):c.667A>G (p.Ser223Gly)
|
rs1775525747
|
|
|
NM_001010892.3(RSPH4A):c.675G>A (p.Ser225=)
|
rs79327004
|
|
|
NM_001010892.3(RSPH4A):c.686+20A>T
|
|
|
|
NM_001010892.3(RSPH4A):c.687-20A>C
|
rs773538494
|
|
|
NM_001010892.3(RSPH4A):c.690T>G (p.Tyr230Ter)
|
rs1554248617
|
|
|
NM_001010892.3(RSPH4A):c.70T>C (p.Trp24Arg)
|
|
|
|
NM_001010892.3(RSPH4A):c.716A>G (p.Lys239Arg)
|
rs2482791121
|
|
|
NM_001010892.3(RSPH4A):c.72G>A (p.Trp24Ter)
|
rs1775508204
|
|
|
NM_001010892.3(RSPH4A):c.764T>C (p.Ile255Thr)
|
rs1775632249
|
|
|
NM_001010892.3(RSPH4A):c.810A>C (p.Ala270=)
|
|
|
|
NM_001010892.3(RSPH4A):c.812T>C (p.Leu271Pro)
|
|
|
|
NM_001010892.3(RSPH4A):c.816A>G (p.Gln272=)
|
|
|
|
NM_001010892.3(RSPH4A):c.833T>G (p.Leu278Arg)
|
rs1406041200
|
|
|
NM_001010892.3(RSPH4A):c.837A>C (p.Pro279=)
|
|
|
|
NM_001010892.3(RSPH4A):c.842A>G (p.Tyr281Cys)
|
rs1775634033
|
|
|
NM_001010892.3(RSPH4A):c.84A>G (p.Thr28=)
|
rs1775508382
|
|
|
NM_001010892.3(RSPH4A):c.882A>C (p.Gly294=)
|
rs933313567
|
|
|
NM_001010892.3(RSPH4A):c.905A>G (p.Glu302Gly)
|
|
|
|
NM_001010892.3(RSPH4A):c.91_92delinsCT (p.Ser31Leu)
|
rs863224690
|
|
|
NM_001010892.3(RSPH4A):c.921+17A>C
|
|
|
|
NM_001010892.3(RSPH4A):c.921+3_921+6del
|
rs869320683
|
|
|
NM_001010892.3(RSPH4A):c.931G>A (p.Ala311Thr)
|
rs1330301417
|
|
|
NM_001010892.3(RSPH4A):c.961T>A (p.Tyr321Asn)
|
rs2482802418
|
|
|
NM_001010892.3(RSPH4A):c.981T>C (p.Val327=)
|
rs1554249218
|
|
|
NM_001010892.3(RSPH4A):c.983G>A (p.Gly328Asp)
|
|
|
|
NM_001034853.2(RPGR):c.-14G>A
|
rs1169756982
|
|
|
NM_001034853.2(RPGR):c.1001T>C (p.Phe334Ser)
|
rs759136845
|
|
|
NM_001034853.2(RPGR):c.1007A>G (p.Asn336Ser)
|
rs2519836369
|
|
|
NM_001034853.2(RPGR):c.1015A>G (p.Ile339Val)
|
rs2519836277
|
|
|
NM_001034853.2(RPGR):c.1019C>A (p.Pro340His)
|
rs2519836268
|
|
|
NM_001034853.2(RPGR):c.101_102insC (p.Asn34_Asp35insTer)
|
rs2519912308
|
|
|
NM_001034853.2(RPGR):c.101del (p.Asn34fs)
|
rs281865295
|
|
|
NM_001034853.2(RPGR):c.1032T>C (p.Ser344=)
|
rs2519836222
|
|
|
NM_001034853.2(RPGR):c.1041G>C (p.Leu347Phe)
|
|
|
|
NM_001034853.2(RPGR):c.1059+17del
|
rs2067495275
|
|
|
NM_001034853.2(RPGR):c.1059+1del
|
rs2147238385
|
|
|
NM_001034853.2(RPGR):c.1059+9A>G
|
rs781086486
|
|
|
NM_001034853.2(RPGR):c.1060-5T>A
|
|
|
|
NM_001034853.2(RPGR):c.1062dup (p.Ala355fs)
|
rs2519829870
|
|
|
NM_001034853.2(RPGR):c.1063G>A (p.Ala355Thr)
|
|
|
|
NM_001034853.2(RPGR):c.1067G>A (p.Cys356Tyr)
|
|
|
|
NM_001034853.2(RPGR):c.1068T>A (p.Cys356Ter)
|
rs2519829828
|
|
|
NM_001034853.2(RPGR):c.1070G>T (p.Gly357Val)
|
|
|
|
NM_001034853.2(RPGR):c.107T>C (p.Val36Ala)
|
rs2519912230
|
|
|
NM_001034853.2(RPGR):c.1080C>T (p.His360=)
|
rs1376403132
|
|
|
NM_001034853.2(RPGR):c.1086_1107dup (p.Gly370fs)
|
rs2519829579
|
|
|
NM_001034853.2(RPGR):c.1089T>G (p.Val363=)
|
rs2519829730
|
|
|
NM_001034853.2(RPGR):c.1092dup (p.Ala365fs)
|
rs281865301
|
|
|
NM_001034853.2(RPGR):c.1097CTC[1] (p.Pro367del)
|
rs1357261084
|
|
|
NM_001034853.2(RPGR):c.1099C>T (p.Pro367Ser)
|
rs769641256
|
|
|
NM_001034853.2(RPGR):c.1105C>G (p.Arg369Gly)
|
rs768571911
|
|
|
NM_001034853.2(RPGR):c.1105C>T (p.Arg369Cys)
|
rs768571911
|
|
|
NM_001034853.2(RPGR):c.110_122del (p.Pro37fs)
|
rs2519912109
|
|
|
NM_001034853.2(RPGR):c.1113G>A (p.Val371=)
|
|
|
|
NM_001034853.2(RPGR):c.1115C>G (p.Ala372Gly)
|
|
|
|
NM_001034853.2(RPGR):c.1117_1119dup (p.Lys373_Glu374insLys)
|
rs750534667
|
|
|
NM_001034853.2(RPGR):c.1120G>T (p.Glu374Ter)
|
rs62635001
|
|
|
NM_001034853.2(RPGR):c.1123A>G (p.Ile375Val)
|
rs780403919
|
|
|
NM_001034853.2(RPGR):c.1125T>A (p.Ile375=)
|
|
|
|
NM_001034853.2(RPGR):c.1126G>T (p.Glu376Ter)
|
rs2067451355
|
|
|
NM_001034853.2(RPGR):c.1132G>A (p.Asp378Asn)
|
rs866428513
|
|
|
NM_001034853.2(RPGR):c.1147A>T (p.Thr383Ser)
|
rs2067450541
|
|
|
NM_001034853.2(RPGR):c.1149T>A (p.Thr383=)
|
rs754275914
|
|
|
NM_001034853.2(RPGR):c.1169_1170del (p.Phe390fs)
|
rs2067449854
|
|
|
NM_001034853.2(RPGR):c.1171C>T (p.Leu391=)
|
|
|
|
NM_001034853.2(RPGR):c.1176G>A (p.Pro392=)
|
rs149742786
|
|
|
NM_001034853.2(RPGR):c.1191C>T (p.Thr397=)
|
rs2519828977
|
|
|
NM_001034853.2(RPGR):c.1197A>G (p.Gly399=)
|
rs2519828947
|
|
|
NM_001034853.2(RPGR):c.1201G>A (p.Val401Ile)
|
rs746767061
|
|
|
NM_001034853.2(RPGR):c.1201G>T (p.Val401Leu)
|
rs746767061
|
|
|
NM_001034853.2(RPGR):c.1203A>G (p.Val401=)
|
|
|
|
NM_001034853.2(RPGR):c.1206_1215del (p.Gln403fs)
|
rs2519828813
|
|
|
NM_001034853.2(RPGR):c.1216_1217del (p.Leu406fs)
|
rs2067448565
|
|
|
NM_001034853.2(RPGR):c.1217_1218insTT (p.Ser407fs)
|
rs1601943325
|
|
|
NM_001034853.2(RPGR):c.1217dup (p.Ser407fs)
|
rs1601943325
|
|
|
NM_001034853.2(RPGR):c.1218A>C (p.Leu406=)
|
|
|
|
NM_001034853.2(RPGR):c.1219_1222del (p.Ser407fs)
|
|
|
|
NM_001034853.2(RPGR):c.1220C>A (p.Ser407Ter)
|
rs772201779
|
|
|
NM_001034853.2(RPGR):c.1220C>T (p.Ser407Leu)
|
rs772201779
|
|
|
NM_001034853.2(RPGR):c.1233G>T (p.Arg411=)
|
rs2519828657
|
|
|
NM_001034853.2(RPGR):c.1234C>T (p.Arg412Ter)
|
rs1601943268
|
|
|
NM_001034853.2(RPGR):c.1235G>A (p.Arg412Gln)
|
rs1044939968
|
|
|
NM_001034853.2(RPGR):c.1238G>A (p.Arg413Lys)
|
rs2519828610
|
|
|
NM_001034853.2(RPGR):c.1243_1244del (p.Arg415fs)
|
rs281865302
|
|
|
NM_001034853.2(RPGR):c.1245+1G>T
|
rs2147232242
|
|
|
NM_001034853.2(RPGR):c.1245+2T>C
|
|
|
|
NM_001034853.2(RPGR):c.1245+3A>G
|
rs62635002
|
|
|
NM_001034853.2(RPGR):c.1245G>A (p.Arg415=)
|
rs2519828558
|
|
|
NM_001034853.2(RPGR):c.1245_1245+6dup
|
|
|
|
NM_001034853.2(RPGR):c.1246-10T>C
|
rs2519823420
|
|
|
NM_001034853.2(RPGR):c.1246-17A>G
|
rs2519823450
|
|
|
NM_001034853.2(RPGR):c.1246-3A>G
|
rs2519823407
|
|
|
NM_001034853.2(RPGR):c.1251del (p.Arg417fs)
|
rs2519823354
|
|
|
NM_001034853.2(RPGR):c.125G>A (p.Cys42Tyr)
|
rs2519912062
|
|
|
NM_001034853.2(RPGR):c.125G>T (p.Cys42Phe)
|
rs2519912062
|
|
|
NM_001034853.2(RPGR):c.1286C>T (p.Pro429Leu)
|
rs2067408372
|
|
|
NM_001034853.2(RPGR):c.128G>A (p.Gly43Glu)
|
rs62638630
|
|
|
NM_001034853.2(RPGR):c.1300A>G (p.Thr434Ala)
|
|
|
|
NM_001034853.2(RPGR):c.1315del (p.Ala439fs)
|
rs2519822897
|
|
|
NM_001034853.2(RPGR):c.1329C>G (p.Pro443=)
|
rs2147227730
|
|
|
NM_001034853.2(RPGR):c.1331A>C (p.Asn444Thr)
|
|
|
|
NM_001034853.2(RPGR):c.1331A>G (p.Asn444Ser)
|
rs756926974
|
|
|
NM_001034853.2(RPGR):c.1345C>T (p.Arg449Ter)
|
rs2067406342
|
|
|
NM_001034853.2(RPGR):c.134A>T (p.Glu45Val)
|
rs2147291597
|
|
|
NM_001034853.2(RPGR):c.1366C>T (p.Gln456Ter)
|
rs1060501181
|
|
|
NM_001034853.2(RPGR):c.1372_1373del (p.Ser458fs)
|
rs1555964133
|
|
|
NM_001034853.2(RPGR):c.1377_1378del (p.Leu460fs)
|
rs62653029
|
|
|
NM_001034853.2(RPGR):c.1381T>C (p.Ser461Pro)
|
rs2067404561
|
|
|
NM_001034853.2(RPGR):c.1387C>T (p.Gln463Ter)
|
rs886044302
|
|
|
NM_001034853.2(RPGR):c.1393C>G (p.Leu465Val)
|
rs1360745560
|
|
|
NM_001034853.2(RPGR):c.1393C>T (p.Leu465Phe)
|
|
|
|
NM_001034853.2(RPGR):c.1396A>G (p.Met466Val)
|
rs774476238
|
|
|
NM_001034853.2(RPGR):c.1398G>A (p.Met466Ile)
|
rs1237734243
|
|
|
NM_001034853.2(RPGR):c.139dup (p.Ser47fs)
|
rs2519911944
|
|
|
NM_001034853.2(RPGR):c.1414+15T>C
|
|
|
|
NM_001034853.2(RPGR):c.1414+19_1414+22del
|
rs1236089041
|
|
|
NM_001034853.2(RPGR):c.1414+1G>A
|
rs2519822407
|
|
|
NM_001034853.2(RPGR):c.1414+1G>C
|
rs2519822407
|
|
|
NM_001034853.2(RPGR):c.1415-3C>G
|
rs2519808771
|
|
|
NM_001034853.2(RPGR):c.1415-7C>A
|
rs2519808795
|
|
|
NM_001034853.2(RPGR):c.1415-9A>T
|
rs2067278631
|
|
|
NM_001034853.2(RPGR):c.1442A>C (p.Glu481Ala)
|
|
|
|
NM_001034853.2(RPGR):c.1481G>T (p.Gly494Val)
|
rs2147212880
|
|
|
NM_001034853.2(RPGR):c.1490C>T (p.Thr497Ile)
|
rs2067277205
|
|
|
NM_001034853.2(RPGR):c.1497C>A (p.Ile499=)
|
rs2519808344
|
|
|
NM_001034853.2(RPGR):c.1505T>C (p.Met502Thr)
|
rs2519808301
|
|
|
NM_001034853.2(RPGR):c.1505dup (p.Met502fs)
|
rs2519808318
|
|
|
NM_001034853.2(RPGR):c.1506+16_1506+19del
|
rs2519808228
|
|
|
NM_001034853.2(RPGR):c.1506+3A>G
|
rs2147212763
|
|
|
NM_001034853.2(RPGR):c.1506+6G>C
|
rs1464455035
|
|
|
NM_001034853.2(RPGR):c.1507-12del
|
rs759448363
|
|
|
NM_001034853.2(RPGR):c.1507-15T>G
|
|
|
|
NM_001034853.2(RPGR):c.1507-17T>A
|
rs2519806541
|
|
|
NM_001034853.2(RPGR):c.1512_1513del (p.Ile505fs)
|
rs281865304
|
|
|
NM_001034853.2(RPGR):c.1532A>T (p.Asn511Ile)
|
rs777543422
|
|
|
NM_001034853.2(RPGR):c.1534G>T (p.Glu512Ter)
|
rs2519806288
|
|
|
NM_001034853.2(RPGR):c.154+11C>A
|
rs375646581
|
|
|
NM_001034853.2(RPGR):c.154+13A>G
|
rs2519911693
|
|
|
NM_001034853.2(RPGR):c.154+5G>A
|
rs2519911751
|
|
|
NM_001034853.2(RPGR):c.1548del (p.Lys516fs)
|
rs2519806235
|
|
|
NM_001034853.2(RPGR):c.154G>A (p.Gly52Arg)
|
rs281865296
|
|
|
NM_001034853.2(RPGR):c.154G>T (p.Gly52Ter)
|
rs281865296
|
|
|
NM_001034853.2(RPGR):c.155-14T>C
|
|
|
|
NM_001034853.2(RPGR):c.1561C>T (p.Gln521Ter)
|
rs755725531
|
|
|
NM_001034853.2(RPGR):c.1572+1G>A
|
rs1601931052
|
|
|
NM_001034853.2(RPGR):c.1572+6del
|
rs2519806122
|
|
|
NM_001034853.2(RPGR):c.1572+9T>C
|
|
|
|
NM_001034853.2(RPGR):c.1573-18_1573-15del
|
rs1569238859
|
|
|
NM_001034853.2(RPGR):c.1573-1G>A
|
rs62635010
|
|
|
NM_001034853.2(RPGR):c.1573-2A>G
|
rs62635009
|
|
|
NM_001034853.2(RPGR):c.1573-3C>G
|
rs1601926845
|
|
|
NM_001034853.2(RPGR):c.1573-8A>G
|
rs62635011
|
|
|
NM_001034853.2(RPGR):c.1573-8A>T
|
|
|
|
NM_001034853.2(RPGR):c.1576CAA[1] (p.Gln527del)
|
rs62653033
|
|
|
NM_001034853.2(RPGR):c.1579C>T (p.Gln527Ter)
|
rs1601926772
|
|
|
NM_001034853.2(RPGR):c.1582_1585del (p.Thr528fs)
|
rs2147203790
|
|
|
NM_001034853.2(RPGR):c.1585A>C (p.Ile529Leu)
|
rs764009509
|
|
|
NM_001034853.2(RPGR):c.1586T>A (p.Ile529Asn)
|
rs2519799043
|
|
|
NM_001034853.2(RPGR):c.158A>G (p.Asn53Ser)
|
rs2519909643
|
|
|
NM_001034853.2(RPGR):c.1591G>T (p.Glu531Ter)
|
rs2519798980
|
|
|
NM_001034853.2(RPGR):c.1595T>G (p.Leu532Arg)
|
rs2147203710
|
|
|
NM_001034853.2(RPGR):c.1600C>G (p.Gln534Glu)
|
rs2519798907
|
|
|
NM_001034853.2(RPGR):c.1600C>T (p.Gln534Ter)
|
rs2519798907
|
|
|
NM_001034853.2(RPGR):c.1606dup (p.Thr536fs)
|
rs2519798838
|
|
|
NM_001034853.2(RPGR):c.1607C>T (p.Thr536Ile)
|
rs1380365858
|
|
|
NM_001034853.2(RPGR):c.1617del (p.Glu540fs)
|
rs2519798732
|
|
|
NM_001034853.2(RPGR):c.1649del (p.Met550fs)
|
rs2519798585
|
|
|
NM_001034853.2(RPGR):c.1650G>A (p.Met550Ile)
|
rs2067218635
|
|
|
NM_001034853.2(RPGR):c.1657A>G (p.Met553Val)
|
rs2519798553
|
|
|
NM_001034853.2(RPGR):c.1680ACA[1] (p.Gln561del)
|
rs1208778002
|
|
|
NM_001034853.2(RPGR):c.1686T>G (p.His562Gln)
|
rs2067217599
|
|
|
NM_001034853.2(RPGR):c.1693C>G (p.Gln565Glu)
|
rs757501405
|
|
|
NM_001034853.2(RPGR):c.1693C>T (p.Gln565Ter)
|
rs757501405
|
|
|
NM_001034853.2(RPGR):c.16G>T (p.Glu6Ter)
|
rs1199553512
|
|
|
NM_001034853.2(RPGR):c.1707G>T (p.Met569Ile)
|
rs2519798251
|
|
|
NM_001034853.2(RPGR):c.1709C>A (p.Thr570Lys)
|
|
|
|
NM_001034853.2(RPGR):c.1728C>A (p.Ile576=)
|
rs145682975
|
|
|
NM_001034853.2(RPGR):c.1728C>G (p.Ile576Met)
|
|
|
|
NM_001034853.2(RPGR):c.1728_1735del (p.Glu577fs)
|
rs2519798019
|
|
|
NM_001034853.2(RPGR):c.1729del (p.Glu577fs)
|
|
|
|
NM_001034853.2(RPGR):c.172A>G (p.Met58Val)
|
|
|
|
NM_001034853.2(RPGR):c.1746G>A (p.Glu582=)
|
rs2519797923
|
|
|
NM_001034853.2(RPGR):c.1747G>T (p.Glu583Ter)
|
rs62635013
|
|
|
NM_001034853.2(RPGR):c.1749A>G (p.Glu583=)
|
rs1060501179
|
|
|
NM_001034853.2(RPGR):c.1753+19T>C
|
|
|
|
NM_001034853.2(RPGR):c.1754-10C>T
|
rs368767915
|
|
|
NM_001034853.2(RPGR):c.1754-13G>C
|
rs1163126564
|
|
|
NM_001034853.2(RPGR):c.1754-214_1801del
|
rs2519795270
|
|
|
NM_001034853.2(RPGR):c.1754-2dup
|
rs2067203496
|
|
|
NM_001034853.2(RPGR):c.1754-3C>G
|
rs2147201026
|
|
|
NM_001034853.2(RPGR):c.1762GAG[1] (p.Glu589del)
|
rs2067203132
|
|
|
NM_001034853.2(RPGR):c.1768A>G (p.Lys590Glu)
|
rs2519795385
|
|
|
NM_001034853.2(RPGR):c.1770G>A (p.Lys590=)
|
|
|
|
NM_001034853.2(RPGR):c.1770G>C (p.Lys590Asn)
|
|
|
|
NM_001034853.2(RPGR):c.1787C>A (p.Ser596Ter)
|
rs2067202860
|
|
|
NM_001034853.2(RPGR):c.1796A>T (p.Asn599Ile)
|
|
|
|
NM_001034853.2(RPGR):c.179G>T (p.Gly60Val)
|
rs62638634
|
|
|
NM_001034853.2(RPGR):c.1803A>G (p.Ile601Met)
|
rs1212278807
|
|
|
NM_001034853.2(RPGR):c.1807_1819dup (p.Glu607fs)
|
rs2519795148
|
|
|
NM_001034853.2(RPGR):c.1810C>G (p.Gln604Glu)
|
|
|
|
NM_001034853.2(RPGR):c.1810C>T (p.Gln604Ter)
|
rs2519795201
|
|
|
NM_001034853.2(RPGR):c.181A>T (p.Ser61Cys)
|
|
|
|
NM_001034853.2(RPGR):c.1822G>A (p.Ala608Thr)
|
|
|
|
NM_001034853.2(RPGR):c.1826A>G (p.Asn609Ser)
|
rs1555961989
|
|
|
NM_001034853.2(RPGR):c.1831G>A (p.Glu611Lys)
|
|
|
|
NM_001034853.2(RPGR):c.183dup (p.Asn62Ter)
|
rs2067976030
|
|
|
NM_001034853.2(RPGR):c.1841A>C (p.Lys614Thr)
|
rs2519795032
|
|
|
NM_001034853.2(RPGR):c.1859A>G (p.Lys620Arg)
|
rs2519794957
|
|
|
NM_001034853.2(RPGR):c.1872_1873del (p.Glu624fs)
|
rs2067200470
|
|
|
NM_001034853.2(RPGR):c.1875C>A (p.Ile625=)
|
rs2519794914
|
|
|
NM_001034853.2(RPGR):c.1880C>G (p.Ser627Ter)
|
rs2147200625
|
|
|
NM_001034853.2(RPGR):c.1881dup (p.Asp628fs)
|
rs2519794898
|
|
|
NM_001034853.2(RPGR):c.1890T>C (p.Leu630=)
|
|
|
|
NM_001034853.2(RPGR):c.189del (p.Trp64fs)
|
rs2519909495
|
|
|
NM_001034853.2(RPGR):c.1918A>G (p.Lys640Glu)
|
rs951100602
|
|
|
NM_001034853.2(RPGR):c.1919del (p.Lys640fs)
|
rs2519794763
|
|
|
NM_001034853.2(RPGR):c.1921G>C (p.Ala641Pro)
|
rs371422457
|
|
|
NM_001034853.2(RPGR):c.193G>T (p.Gly65Cys)
|
rs2067975926
|
|
|
NM_001034853.2(RPGR):c.1946A>G (p.Asp649Gly)
|
rs367882990
|
|
|
NM_001034853.2(RPGR):c.194G>A (p.Gly65Asp)
|
rs1601982532
|
|
|
NM_001034853.2(RPGR):c.194G>T (p.Gly65Val)
|
|
|
|
NM_001034853.2(RPGR):c.1952dup (p.Pro651_Glu652insTer)
|
rs2519794611
|
|
|
NM_001034853.2(RPGR):c.1954G>A (p.Glu652Lys)
|
rs2147200398
|
|
|
NM_001034853.2(RPGR):c.1956del (p.Gly653fs)
|
rs2519794592
|
|
|
NM_001034853.2(RPGR):c.1957G>A (p.Gly653Ser)
|
rs902148095
|
|
|
NM_001034853.2(RPGR):c.1973C>A (p.Thr658Asn)
|
|
|
|
NM_001034853.2(RPGR):c.19_25delinsGGAGCCCGTGGCATGAGGGAG (p.Leu7fs)
|
rs2519927267
|
|
|
NM_001034853.2(RPGR):c.2006G>A (p.Trp669Ter)
|
rs2067196800
|
|
|
NM_001034853.2(RPGR):c.2007G>A (p.Trp669Ter)
|
rs2519794257
|
|
|
NM_001034853.2(RPGR):c.2016G>A (p.Glu672=)
|
rs2519794234
|
|
|
NM_001034853.2(RPGR):c.202G>A (p.Gly68Arg)
|
rs1601982516
|
|
|
NM_001034853.2(RPGR):c.202G>C (p.Gly68Arg)
|
rs1601982516
|
|
|
NM_001034853.2(RPGR):c.2039A>G (p.Asp680Gly)
|
rs2519794080
|
|
|
NM_001034853.2(RPGR):c.203G>A (p.Gly68Glu)
|
rs2067975335
|
|
|
NM_001034853.2(RPGR):c.2040C>T (p.Asp680=)
|
|
|
|
NM_001034853.2(RPGR):c.2043G>A (p.Lys681=)
|
rs753741318
|
|
|
NM_001034853.2(RPGR):c.2048dup (p.Gly684fs)
|
rs2519794006
|
|
|
NM_001034853.2(RPGR):c.2053G>C (p.Glu685Gln)
|
rs1359767393
|
|
|
NM_001034853.2(RPGR):c.2056A>G (p.Met686Val)
|
rs2067194947
|
|
|
NM_001034853.2(RPGR):c.2059G>T (p.Glu687Ter)
|
rs2067194648
|
|
|
NM_001034853.2(RPGR):c.2070del (p.Glu691fs)
|
rs1601924055
|
|
|
NM_001034853.2(RPGR):c.2071G>T (p.Glu691Ter)
|
rs2147199844
|
|
|
NM_001034853.2(RPGR):c.2086C>G (p.Leu696Val)
|
rs2147199781
|
|
|
NM_001034853.2(RPGR):c.2094G>T (p.Glu698Asp)
|
rs377524122
|
|
|
NM_001034853.2(RPGR):c.2099_2138dup (p.Glu714fs)
|
rs2519793388
|
|
|
NM_001034853.2(RPGR):c.2106G>A (p.Trp702Ter)
|
rs2067193056
|
|
|
NM_001034853.2(RPGR):c.2110_2111del (p.Lys704fs)
|
|
|
|
NM_001034853.2(RPGR):c.2128C>T (p.Gln710Ter)
|
|
|
|
NM_001034853.2(RPGR):c.2140del (p.Glu714fs)
|
rs2519793374
|
|
|
NM_001034853.2(RPGR):c.2146G>T (p.Glu716Ter)
|
rs2067191335
|
|
|
NM_001034853.2(RPGR):c.2149C>T (p.Gln717Ter)
|
rs2519793311
|
|
|
NM_001034853.2(RPGR):c.2153G>A (p.Gly718Asp)
|
|
|
|
NM_001034853.2(RPGR):c.2167A>T (p.Arg723Ter)
|
rs2519793247
|
|
|
NM_001034853.2(RPGR):c.2173C>T (p.Gln725Ter)
|
rs907856232
|
|
|
NM_001034853.2(RPGR):c.2175A>G (p.Gln725=)
|
|
|
|
NM_001034853.2(RPGR):c.2184G>A (p.Glu728=)
|
rs2519793131
|
|
|
NM_001034853.2(RPGR):c.2188_2189dup (p.Gly731fs)
|
rs2519793097
|
|
|
NM_001034853.2(RPGR):c.2192G>C (p.Gly731Ala)
|
rs1454265991
|
|
|
NM_001034853.2(RPGR):c.2194del (p.Glu732fs)
|
rs2519793036
|
|
|
NM_001034853.2(RPGR):c.219del (p.Ala74fs)
|
rs1601982474
|
|
|
NM_001034853.2(RPGR):c.2203_2226del (p.His735_Glu742del)
|
rs768423834
|
|
|
NM_001034853.2(RPGR):c.2212G>T (p.Gly738Ter)
|
rs2519792921
|
|
|
NM_001034853.2(RPGR):c.2215G>A (p.Glu739Lys)
|
rs1459539276
|
|
|
NM_001034853.2(RPGR):c.2215G>T (p.Glu739Ter)
|
rs1459539276
|
|
|
NM_001034853.2(RPGR):c.2218G>T (p.Glu740Ter)
|
rs983693027
|
|
|
NM_001034853.2(RPGR):c.2219_2223del (p.Glu740fs)
|
rs2519792808
|
|
|
NM_001034853.2(RPGR):c.2222AGG[1] (p.Glu742del)
|
rs756401194
|
|
|
NM_001034853.2(RPGR):c.2229dup (p.Asp744fs)
|
rs2519792735
|
|
|
NM_001034853.2(RPGR):c.2232_2235del (p.Asp744fs)
|
rs2519792716
|
|
|
NM_001034853.2(RPGR):c.2234_2237del (p.Arg745fs)
|
rs1555961852
|
|
|
NM_001034853.2(RPGR):c.2236_2237del (p.Glu746fs)
|
rs1555961852
|
|
|
NM_001034853.2(RPGR):c.2245del (p.Glu749fs)
|
rs2519792649
|
|
|
NM_001034853.2(RPGR):c.2248G>T (p.Glu750Ter)
|
rs867420711
|
|
|
NM_001034853.2(RPGR):c.2249_2253del (p.Glu750fs)
|
rs2067188031
|
|
|
NM_001034853.2(RPGR):c.2252_2255del (p.Lys751fs)
|
rs1475590979
|
|
|
NM_001034853.2(RPGR):c.2257_2260del (p.Gly753fs)
|
rs2067187618
|
|
|
NM_001034853.2(RPGR):c.2270_2271del (p.Glu757fs)
|
rs2519792436
|
|
|
NM_001034853.2(RPGR):c.2278G>T (p.Glu760Ter)
|
rs2519792372
|
|
|
NM_001034853.2(RPGR):c.2283_2284del (p.Glu762fs)
|
rs2067187127
|
|
|
NM_001034853.2(RPGR):c.2283_2284dup (p.Glu762fs)
|
|
|
|
NM_001034853.2(RPGR):c.2284del (p.Glu762fs)
|
rs2067187127
|
|
|
NM_001034853.2(RPGR):c.2291_2293del (p.Val764del)
|
rs2519792278
|
|
|
NM_001034853.2(RPGR):c.2293G>T (p.Glu765Ter)
|
rs2147198765
|
|
|
NM_001034853.2(RPGR):c.2293_2305del (p.Glu765fs)
|
rs2519792150
|
|
|
NM_001034853.2(RPGR):c.2296_2299dup (p.Glu767fs)
|
|
|
|
NM_001034853.2(RPGR):c.2303G>A (p.Arg768His)
|
rs1384034145
|
|
|
NM_001034853.2(RPGR):c.2310GGA[1] (p.Glu772del)
|
rs1387045893
|
|
|
NM_001034853.2(RPGR):c.2311_2314del (p.Glu771fs)
|
rs2519792080
|
|
|
NM_001034853.2(RPGR):c.2320G>T (p.Glu774Ter)
|
rs2067186077
|
|
|
NM_001034853.2(RPGR):c.2323_2324del (p.Arg775fs)
|
rs1555961832
|
|
|
NM_001034853.2(RPGR):c.2327A>G (p.Lys776Arg)
|
rs2519791952
|
|
|
NM_001034853.2(RPGR):c.2331GGA[1] (p.Glu779del)
|
rs201730068
|
|
|
NM_001034853.2(RPGR):c.2332G>T (p.Glu778Ter)
|
|
|
|
NM_001034853.2(RPGR):c.2333del (p.Glu778fs)
|
rs2519791904
|
|
|
NM_001034853.2(RPGR):c.2336_2337insTC (p.Glu779fs)
|
rs2519791875
|
|
|
NM_001034853.2(RPGR):c.2350_2368del (p.Glu784fs)
|
rs2519791604
|
|
|
NM_001034853.2(RPGR):c.2350_2392del (p.Glu784fs)
|
|
|
|
NM_001034853.2(RPGR):c.2357_2375del (p.Lys786fs)
|
rs2519791561
|
|
|
NM_001034853.2(RPGR):c.2360_2362del (p.Gly787del)
|
rs1287687440
|
|
|
NM_001034853.2(RPGR):c.2360del (p.Gly787fs)
|
rs2519791671
|
|
|
NM_001034853.2(RPGR):c.2366AAG[1] (p.Glu790del)
|
rs1220781013
|
|
|
NM_001034853.2(RPGR):c.2377C>T (p.Gln793Ter)
|
rs2067184023
|
|
|
NM_001034853.2(RPGR):c.237_238del (p.Val81fs)
|
rs62650215
|
|
|
NM_001034853.2(RPGR):c.2384_2385del (p.Glu795fs)
|
rs2519791486
|
|
|
NM_001034853.2(RPGR):c.2384del (p.Glu795fs)
|
rs1569237206
|
|
|
NM_001034853.2(RPGR):c.2389_2409del (p.Glu797_Gly803del)
|
rs1304711822
|
|
|
NM_001034853.2(RPGR):c.2390_2408del (p.Glu797fs)
|
rs2519791293
|
|
|
NM_001034853.2(RPGR):c.2399A>G (p.Glu800Gly)
|
rs2519791382
|
|
|
NM_001034853.2(RPGR):c.2405_2406del (p.Glu802fs)
|
rs398122960
|
|
|
NM_001034853.2(RPGR):c.2407G>A (p.Gly803Arg)
|
rs2519791300
|
|
|
NM_001034853.2(RPGR):c.2412_2413del (p.Glu806fs)
|
rs2067182636
|
|
|
NM_001034853.2(RPGR):c.2412_2418del (p.Gly805fs)
|
rs2519791194
|
|
|
NM_001034853.2(RPGR):c.2415G>C (p.Gly805=)
|
rs2519791236
|
|
|
NM_001034853.2(RPGR):c.2419G>T (p.Glu807Ter)
|
rs2067182354
|
|
|
NM_001034853.2(RPGR):c.2424del (p.Glu809fs)
|
rs2519791125
|
|
|
NM_001034853.2(RPGR):c.2424dup (p.Glu809fs)
|
rs2519791125
|
|
|
NM_001034853.2(RPGR):c.2426AGG[1] (p.Glu810del)
|
rs745480662
|
|
|
NM_001034853.2(RPGR):c.2426_2427del (p.Glu809fs)
|
rs730882261
|
|
|
NM_001034853.2(RPGR):c.2432GAGGGGAAGTAGAGG[1] (p.811GGEVE[1])
|
rs777850798
|
|
|
NM_001034853.2(RPGR):c.2432GAGGGGAAGTAGAGG[3] (p.Glu820_Glu821insGlyGlyGluValGlu)
|
rs777850798
|
|
|
NM_001034853.2(RPGR):c.2433_2436del (p.Gly812fs)
|
rs2519790975
|
|
|
NM_001034853.2(RPGR):c.2433del (p.Glu813fs)
|
rs2519791019
|
|
|
NM_001034853.2(RPGR):c.2437G>T (p.Glu813Ter)
|
rs2519790959
|
|
|
NM_001034853.2(RPGR):c.2440_2468del (p.Val814fs)
|
rs2519790697
|
|
|
NM_001034853.2(RPGR):c.2442_2445del (p.Gly817fs)
|
rs1569237077
|
|
|
NM_001034853.2(RPGR):c.2449G>A (p.Gly817Arg)
|
rs1271729130
|
|
|
NM_001034853.2(RPGR):c.2451G>A (p.Gly817=)
|
rs2067180910
|
|
|
NM_001034853.2(RPGR):c.2455_2468del (p.Val819fs)
|
rs2147197604
|
|
|
NM_001034853.2(RPGR):c.2457dup (p.Glu820fs)
|
rs2067180593
|
|
|
NM_001034853.2(RPGR):c.2464G>A (p.Gly822Arg)
|
rs375806829
|
|
|
NM_001034853.2(RPGR):c.2467A>T (p.Lys823Ter)
|
|
|
|
NM_001034853.2(RPGR):c.2469del (p.Gly824fs)
|
rs2519790671
|
|
|
NM_001034853.2(RPGR):c.247+14T>C
|
|
|
|
NM_001034853.2(RPGR):c.247+18C>T
|
|
|
|
NM_001034853.2(RPGR):c.247+1G>A
|
rs2519909173
|
|
|
NM_001034853.2(RPGR):c.247+2T>C
|
rs2519909164
|
|
|
NM_001034853.2(RPGR):c.247+5G>A
|
rs2067974156
|
|
|
NM_001034853.2(RPGR):c.247+5G>T
|
rs2067974156
|
|
|
NM_001034853.2(RPGR):c.2470G>T (p.Gly824Ter)
|
rs2147197584
|
|
|
NM_001034853.2(RPGR):c.2471del (p.Gly824fs)
|
rs2519790630
|
|
|
NM_001034853.2(RPGR):c.2476_2477del (p.Arg826fs)
|
rs2067179633
|
|
|
NM_001034853.2(RPGR):c.2477G>A (p.Arg826Lys)
|
|
|
|
NM_001034853.2(RPGR):c.2479G>T (p.Glu827Ter)
|
rs2067179538
|
|
|
NM_001034853.2(RPGR):c.247G>T (p.Ala83Ser)
|
rs2067974263
|
|
|
NM_001034853.2(RPGR):c.248-10A>G
|
rs2519902575
|
|
|
NM_001034853.2(RPGR):c.248-1G>A
|
rs2519902491
|
|
|
NM_001034853.2(RPGR):c.248-1G>T
|
rs2519902491
|
|
|
NM_001034853.2(RPGR):c.248-20C>T
|
rs2519902623
|
|
|
NM_001034853.2(RPGR):c.2481AGAGGA[1] (p.Glu831_Glu832del)
|
rs1224260017
|
|
|
NM_001034853.2(RPGR):c.2482G>T (p.Glu828Ter)
|
rs2519790541
|
|
|
NM_001034853.2(RPGR):c.2483_2496del (p.Glu828fs)
|
|
|
|
NM_001034853.2(RPGR):c.2485G>T (p.Glu829Ter)
|
rs2519790535
|
|
|
NM_001034853.2(RPGR):c.2487_2513del (p.Glu831_Glu839del)
|
|
|
|
NM_001034853.2(RPGR):c.2487_2520delinsGGAGGAGGGT (p.Glu832_Glu839del)
|
rs2519790180
|
|
|
NM_001034853.2(RPGR):c.2489AGG[2] (p.Glu832del)
|
rs765319100
|
|
|
NM_001034853.2(RPGR):c.2494del (p.Glu832fs)
|
rs2519790473
|
|
|
NM_001034853.2(RPGR):c.2495_2520delinsGT (p.Glu832_Glu839del)
|
rs2519790167
|
|
|
NM_001034853.2(RPGR):c.2496G>A (p.Glu832=)
|
rs1285174065
|
|
|
NM_001034853.2(RPGR):c.2496_2516del (p.829EEEEGEG[3])
|
rs1569236939
|
|
|
NM_001034853.2(RPGR):c.2501_2502del (p.Glu834fs)
|
rs2519790385
|
|
|
NM_001034853.2(RPGR):c.2501del (p.Glu834fs)
|
rs2067178120
|
|
|
NM_001034853.2(RPGR):c.2506del (p.Glu836fs)
|
rs1569236971
|
|
|
NM_001034853.2(RPGR):c.2509G>T (p.Glu837Ter)
|
rs2067177281
|
|
|
NM_001034853.2(RPGR):c.2511G>A (p.Glu837=)
|
rs1349104214
|
|
|
NM_001034853.2(RPGR):c.2516_2524del (p.Glu839_Glu841del)
|
|
|
|
NM_001034853.2(RPGR):c.2520GGAGGGGGAAGAGGAGGAAGG[1] (p.829EEEEGEG[3])
|
rs751710678
|
|
|
NM_001034853.2(RPGR):c.2520GGAGGGGGAAGAGGAGGAAGG[3] (p.829EEEEGEG[5])
|
rs751710678
|
|
|
NM_001034853.2(RPGR):c.2520GGAGGGGGAAGAGGAGGAAGG[4] (p.Gly856_Lys857insGluGluGluGluGlyGluGlyGluGluGluGluGlyGluGly)
|
rs751710678
|
|
|
NM_001034853.2(RPGR):c.2520_2521insAAGGGGGAAGAGGAGGAAGGG (p.Gly840_Glu841insLysGlyGluGluGluGluGly)
|
|
|
|
NM_001034853.2(RPGR):c.2520_2561del (p.829EEEEGEG[2])
|
rs751710678
|
|
|
NM_001034853.2(RPGR):c.2522_2543del (p.Glu841fs)
|
rs2519789861
|
|
|
NM_001034853.2(RPGR):c.2522del (p.Glu841fs)
|
rs1601922202
|
|
|
NM_001034853.2(RPGR):c.2525_2578dup (p.Glu859_Glu860insGlyGluGluGluGluGlyGluGlyGluGluGluGluGlyGluGlyLysGlyGlu)
|
rs2519789434
|
|
|
NM_001034853.2(RPGR):c.2526G>A (p.Gly842=)
|
rs2519790083
|
|
|
NM_001034853.2(RPGR):c.2527G>A (p.Glu843Lys)
|
rs2519790060
|
|
|
NM_001034853.2(RPGR):c.2527del (p.Glu843fs)
|
rs2067175855
|
|
|
NM_001034853.2(RPGR):c.2532GGA[1] (p.Glu846del)
|
rs1244107507
|
|
|
NM_001034853.2(RPGR):c.2535_2558del (p.Glu846_Glu853del)
|
rs760332126
|
|
|
NM_001034853.2(RPGR):c.2536dup (p.Glu846fs)
|
rs2519789982
|
|
|
NM_001034853.2(RPGR):c.2541G>A (p.Gly847=)
|
rs750364695
|
|
|
NM_001034853.2(RPGR):c.2547G>A (p.Gly849=)
|
rs2519789804
|
|
|
NM_001034853.2(RPGR):c.2548del (p.Glu850fs)
|
rs2067174697
|
|
|
NM_001034853.2(RPGR):c.2556G>A (p.Glu852=)
|
rs1213874124
|
|
|
NM_001034853.2(RPGR):c.2557G>A (p.Glu853Lys)
|
rs756933299
|
|
|
NM_001034853.2(RPGR):c.255del (p.Lys85fs)
|
rs1555968248
|
|
|
NM_001034853.2(RPGR):c.2564A>G (p.Glu855Gly)
|
rs2519789645
|
|
|
NM_001034853.2(RPGR):c.2566G>A (p.Gly856Arg)
|
rs2067172951
|
|
|
NM_001034853.2(RPGR):c.2568dup (p.Lys857fs)
|
rs2067172824
|
|
|
NM_001034853.2(RPGR):c.2569_2570insG (p.Lys857fs)
|
rs1281257509
|
|
|
NM_001034853.2(RPGR):c.2571_2572del (p.Glu859fs)
|
rs2067172385
|
|
|
NM_001034853.2(RPGR):c.2571del (p.Glu859fs)
|
rs1555961704
|
|
|
NM_001034853.2(RPGR):c.2572G>T (p.Gly858Trp)
|
|
|
|
NM_001034853.2(RPGR):c.2574_2575del (p.Glu859fs)
|
rs2519789485
|
|
|
NM_001034853.2(RPGR):c.2577GGAAGAAGG[1] (p.861EGE[1])
|
rs1942516036
|
|
|
NM_001034853.2(RPGR):c.2586_2587del (p.Glu863fs)
|
rs2067170858
|
|
|
NM_001034853.2(RPGR):c.2589A>G (p.Glu863=)
|
rs777091269
|
|
|
NM_001034853.2(RPGR):c.2589_2603del (p.Gly865_Glu869del)
|
rs1193509492
|
|
|
NM_001034853.2(RPGR):c.2589_2615del (p.860EEGEEGEGE[1])
|
rs1444160129
|
|
|
NM_001034853.2(RPGR):c.2594_2596del (p.Gly865del)
|
rs771584745
|
|
|
NM_001034853.2(RPGR):c.2594_2608del (p.Gly865_Glu869del)
|
|
|
|
NM_001034853.2(RPGR):c.2595_2612del (p.Gly867_Glu872del)
|
rs2519789062
|
|
|
NM_001034853.2(RPGR):c.2597AAGGGGAGGAAG[1] (p.866EGEE[1])
|
rs747742286
|
|
|
NM_001034853.2(RPGR):c.2598_2599insCGGGAGGAAGAAGGGGAGGAAGGAGAA (p.Glu866_Gly867insArgGluGluGluGlyGluGluGlyGlu)
|
rs2519789236
|
|
|
NM_001034853.2(RPGR):c.2601G>A (p.Gly867=)
|
rs2519789215
|
|
|
NM_001034853.2(RPGR):c.2601_2602del (p.Glu868fs)
|
rs2067169934
|
|
|
NM_001034853.2(RPGR):c.2605G>T (p.Glu869Ter)
|
rs1555961677
|
|
|
NM_001034853.2(RPGR):c.2606_2620del (p.Glu869_Glu873del)
|
rs200824587
|
|
|
NM_001034853.2(RPGR):c.2606_2632dup (p.860EEGEEGEGE[3])
|
rs769216492
|
|
|
NM_001034853.2(RPGR):c.2609A>G (p.Glu870Gly)
|
rs1343966503
|
|
|
NM_001034853.2(RPGR):c.2612G>A (p.Gly871Glu)
|
rs1279895966
|
|
|
NM_001034853.2(RPGR):c.2613G>T (p.Gly871=)
|
rs1601921644
|
|
|
NM_001034853.2(RPGR):c.2613_2614del (p.Glu872fs)
|
rs2519789017
|
|
|
NM_001034853.2(RPGR):c.2614G>T (p.Glu872Ter)
|
rs2519789004
|
|
|
NM_001034853.2(RPGR):c.2616G>A (p.Glu872=)
|
rs2519788976
|
|
|
NM_001034853.2(RPGR):c.2617G>T (p.Glu873Ter)
|
rs2519788962
|
|
|
NM_001034853.2(RPGR):c.2618_2632del (p.Glu873_Glu877del)
|
rs2067166248
|
|
|
NM_001034853.2(RPGR):c.2618_2632dup (p.Glu877_Gly878insGluGlyGluGlyGlu)
|
rs2067166248
|
|
|
NM_001034853.2(RPGR):c.2619A>G (p.Glu873=)
|
rs756083902
|
|
|
NM_001034853.2(RPGR):c.2621_2623del (p.Gly874del)
|
rs1298062071
|
|
|
NM_001034853.2(RPGR):c.2625dup (p.Gly876fs)
|
rs2519788844
|
|
|
NM_001034853.2(RPGR):c.2628_2629del (p.Glu877fs)
|
rs2067166789
|
|
|
NM_001034853.2(RPGR):c.2628_2632GGA[2]AGAAGGGGAGGAAGGAGAAGGAGG[1] (p.Gly878fs)
|
|
|
|
NM_001034853.2(RPGR):c.2630del (p.Glu877fs)
|
rs2519788765
|
|
|
NM_001034853.2(RPGR):c.2633_2640delinsAAGAAGGGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAGGGAGAA (p.Gly878_Glu879delinsGluGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGly)
|
rs2519788681
|
|
|
NM_001034853.2(RPGR):c.2634_2684del (p.886EGEEEGEGEGEEEEGEG[1])
|
rs1569236514
|
|
|
NM_001034853.2(RPGR):c.2635del (p.Glu879fs)
|
rs2519788713
|
|
|
NM_001034853.2(RPGR):c.2640GGA[1] (p.Glu882del)
|
rs749799824
|
|
|
NM_001034853.2(RPGR):c.2644G>T (p.Glu882Ter)
|
rs2519788643
|
|
|
NM_001034853.2(RPGR):c.2646AGGAGAAGGGGAGGGAGAAGAGGA[1] (p.883GEGEGEEE[1])
|
rs756520886
|
|
|
NM_001034853.2(RPGR):c.2646AGGAGAAGGGGAGGGAGAAGAGGA[3] (p.883GEGEGEEE[3])
|
rs756520886
|
|
|
NM_001034853.2(RPGR):c.264A>G (p.Lys88=)
|
rs2519902386
|
|
|
NM_001034853.2(RPGR):c.2650G>T (p.Glu884Ter)
|
rs137852549
|
|
|
NM_001034853.2(RPGR):c.2653G>A (p.Gly885Arg)
|
rs2067164307
|
|
|
NM_001034853.2(RPGR):c.2655_2656del (p.Glu886fs)
|
rs2067164096
|
|
|
NM_001034853.2(RPGR):c.2656GAGGGAGAAGAGGAAGGAGAAGGGGAGGGAGAAGAGGAGGAAGGAGAAGGG[1] (p.886EGEEEGEGEGEEEEGEG[1])
|
rs2519787339
|
|
|
NM_001034853.2(RPGR):c.2656GAGGGAGAAGAGGAAGGAGAAGGGGAGGGAGAAGAGGAGGAAGGAGAAGGG[3] (p.Gly919_Lys920insGluGlyGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGly)
|
rs2519787339
|
|
|
NM_001034853.2(RPGR):c.2658G>A (p.Glu886=)
|
|
|
|
NM_001034853.2(RPGR):c.2660G>A (p.Gly887Glu)
|
rs2519788457
|
|
|
NM_001034853.2(RPGR):c.2665G>T (p.Glu889Ter)
|
rs2067163605
|
|
|
NM_001034853.2(RPGR):c.2666_2671del (p.Glu889_Glu890del)
|
rs2067162950
|
|
|
NM_001034853.2(RPGR):c.2667GGAAGGAGAAGGGGAGGGAGAAGAGGA[1] (p.890EGEGEGEEE[1])
|
rs781514081
|
|
|
NM_001034853.2(RPGR):c.2667GGAAGGAGAAGGGGAGGGAGAAGAGGA[3] (p.Glu907_Gly908insGluGlyGluGlyGluGlyGluGluGlu)
|
rs781514081
|
|
|
NM_001034853.2(RPGR):c.2667_2669del (p.Glu890del)
|
rs199663434
|
|
|
NM_001034853.2(RPGR):c.2667_2669dup (p.Glu890_Gly891insGlu)
|
|
|
|
NM_001034853.2(RPGR):c.2678G>T (p.Gly893Val)
|
rs1418019007
|
|
|
NM_001034853.2(RPGR):c.2679_2680del (p.Glu894fs)
|
rs2147195624
|
|
|
NM_001034853.2(RPGR):c.267G>C (p.Val89=)
|
rs2147285733
|
|
|
NM_001034853.2(RPGR):c.2680_2757dup (p.Gly919_Lys920insGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGly)
|
rs2519787327
|
|
|
NM_001034853.2(RPGR):c.2682G>A (p.Glu894=)
|
rs1601921044
|
|
|
NM_001034853.2(RPGR):c.2682_2696del (p.Glu897_Glu901del)
|
rs2067161070
|
|
|
NM_001034853.2(RPGR):c.2684G>A (p.Gly895Glu)
|
rs2067161866
|
|
|
NM_001034853.2(RPGR):c.2686G>A (p.Glu896Lys)
|
rs2519788018
|
|
|
NM_001034853.2(RPGR):c.2691GGA[1] (p.Glu899del)
|
rs745428229
|
|
|
NM_001034853.2(RPGR):c.2692G>T (p.Glu898Ter)
|
rs1469760018
|
|
|
NM_001034853.2(RPGR):c.2693A>G (p.Glu898Gly)
|
rs2519787902
|
|
|
NM_001034853.2(RPGR):c.2695G>T (p.Glu899Ter)
|
rs2067161139
|
|
|
NM_001034853.2(RPGR):c.2697AGGAGAAGGGGAGGGAGAAGAGGA[1] (p.900GEGEGEEE[1])
|
rs757402645
|
|
|
NM_001034853.2(RPGR):c.2697AGGAGAAGGGGAGGGAGAAGAGGA[3] (p.900GEGEGEEE[3])
|
rs757402645
|
|
|
NM_001034853.2(RPGR):c.2706_2707del (p.Glu903fs)
|
rs2519787762
|
|
|
NM_001034853.2(RPGR):c.2710_2713del (p.Gly904fs)
|
rs2519787728
|
|
|
NM_001034853.2(RPGR):c.2712A>G (p.Gly904=)
|
rs774705528
|
|
|
NM_001034853.2(RPGR):c.2714_2715del (p.Glu905fs)
|
rs2067160273
|
|
|
NM_001034853.2(RPGR):c.2716G>T (p.Glu906Ter)
|
rs2067160069
|
|
|
NM_001034853.2(RPGR):c.2718_2720del (p.Glu907del)
|
|
|
|
NM_001034853.2(RPGR):c.2719G>T (p.Glu907Ter)
|
|
|
|
NM_001034853.2(RPGR):c.2720A>G (p.Glu907Gly)
|
rs2519787623
|
|
|
NM_001034853.2(RPGR):c.2725_2757dup (p.Gly919_Lys920insGluGlyGluGlyGluGluGluGluGlyGluGly)
|
rs2519787317
|
|
|
NM_001034853.2(RPGR):c.2729G>T (p.Gly910Val)
|
rs749762268
|
|
|
NM_001034853.2(RPGR):c.2730_2731dup (p.Glu911fs)
|
rs2519787528
|
|
|
NM_001034853.2(RPGR):c.2731_2757del (p.Glu911_Gly919del)
|
rs2519787323
|
|
|
NM_001034853.2(RPGR):c.2733_2819dup (p.Glu942_Asp943insGluGluGluGlyGluGlyLysGlyGluGluGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGlu)
|
rs2519786584
|
|
|
NM_001034853.2(RPGR):c.2742GGA[1] (p.Glu916del)
|
rs751721873
|
|
|
NM_001034853.2(RPGR):c.2743del (p.Glu915fs)
|
|
|
|
NM_001034853.2(RPGR):c.2747_2749del (p.Glu916del)
|
rs1239505045
|
|
|
NM_001034853.2(RPGR):c.2748A>G (p.Glu916=)
|
|
|
|
NM_001034853.2(RPGR):c.2750_2752del (p.Gly917del)
|
rs1462676823
|
|
|
NM_001034853.2(RPGR):c.2750del (p.Gly917fs)
|
rs2519787400
|
|
|
NM_001034853.2(RPGR):c.2751A>G (p.Gly917=)
|
rs1351030492
|
|
|
NM_001034853.2(RPGR):c.2752G>T (p.Glu918Ter)
|
rs2519787370
|
|
|
NM_001034853.2(RPGR):c.2760_2761del (p.Glu922fs)
|
|
|
|
NM_001034853.2(RPGR):c.2763GGA[2] (p.Glu924del)
|
rs2067156760
|
|
|
NM_001034853.2(RPGR):c.2763_2764del (p.Glu922fs)
|
rs2067157388
|
|
|
NM_001034853.2(RPGR):c.2764G>T (p.Glu922Ter)
|
rs2519787265
|
|
|
NM_001034853.2(RPGR):c.2767G>A (p.Glu923Lys)
|
rs1203165819
|
|
|
NM_001034853.2(RPGR):c.2774G>A (p.Gly925Glu)
|
|
|
|
NM_001034853.2(RPGR):c.2774_2776del (p.Gly925del)
|
rs1348292879
|
|
|
NM_001034853.2(RPGR):c.2777_2778del (p.Glu926fs)
|
rs1601920532
|
|
|
NM_001034853.2(RPGR):c.2778_2813dup (p.Glu938_Gly939insGluGlyGluGlyGluGlyGluGluGluGluGlyGlu)
|
rs2519786657
|
|
|
NM_001034853.2(RPGR):c.277G>T (p.Ala93Ser)
|
rs1297637323
|
|
|
NM_001034853.2(RPGR):c.2782G>A (p.Gly928Arg)
|
rs2519787093
|
|
|
NM_001034853.2(RPGR):c.2782G>T (p.Gly928Ter)
|
rs2519787093
|
|
|
NM_001034853.2(RPGR):c.2784_2789del (p.928GE[2])
|
rs1384304050
|
|
|
NM_001034853.2(RPGR):c.2790_2791del (p.Glu931fs)
|
rs1601920423
|
|
|
NM_001034853.2(RPGR):c.2790_2810del (p.Glu934_Glu940del)
|
rs2067152361
|
|
|
NM_001034853.2(RPGR):c.2791del (p.Glu931fs)
|
rs1601920423
|
|
|
NM_001034853.2(RPGR):c.2792del (p.Glu931fs)
|
rs2519786964
|
|
|
NM_001034853.2(RPGR):c.28+10G>T
|
rs754724798
|
|
|
NM_001034853.2(RPGR):c.28+18C>T
|
rs1401336377
|
|
|
NM_001034853.2(RPGR):c.28+1G>A
|
rs62638627
|
|
|
NM_001034853.2(RPGR):c.28+1G>T
|
|
|
|
NM_001034853.2(RPGR):c.28+5G>A
|
rs62638626
|
|
|
NM_001034853.2(RPGR):c.28+9C>A
|
rs1373574012
|
|
|
NM_001034853.2(RPGR):c.2802GGA[1] (p.Glu936del)
|
rs1238945219
|
|
|
NM_001034853.2(RPGR):c.2803G>A (p.Glu935Lys)
|
rs2519786858
|
|
|
NM_001034853.2(RPGR):c.2803G>T (p.Glu935Ter)
|
rs2519786858
|
|
|
NM_001034853.2(RPGR):c.2805_2906del (p.Glu936_Glu969del)
|
rs1569235966
|
|
|
NM_001034853.2(RPGR):c.2810_2812del (p.Gly937del)
|
rs1481243862
|
|
|
NM_001034853.2(RPGR):c.2811_2816del (p.937GE[2])
|
rs1446643540
|
|
|
NM_001034853.2(RPGR):c.2815_2862del (p.Gly939_Glu954del)
|
rs1569236115
|
|
|
NM_001034853.2(RPGR):c.2815_2862dup (p.Glu954_Trp955insGlyGluGlyGluAspGlyGluGlyGluGlyGluGluGluGluGlyGlu)
|
|
|
|
NM_001034853.2(RPGR):c.2819_2837dup (p.Glu947fs)
|
rs2519786353
|
|
|
NM_001034853.2(RPGR):c.281G>A (p.Cys94Tyr)
|
|
|
|
NM_001034853.2(RPGR):c.2820AGGGGAGGATGGAGAAGGGGA[3] (p.Glu949_Glu950insAspGlyGluGlyGluGlyGluAspGlyGluGlyGluGlyGlu)
|
rs764268405
|
|
|
NM_001034853.2(RPGR):c.2820_2821insAGGGAGGATGGAGAAGGGGAA (p.Glu940_Gly941insArgGluAspGlyGluGlyGlu)
|
rs2519786511
|
|
|
NM_001034853.2(RPGR):c.2820_2840del (p.Asp943_Glu949del)
|
rs764268405
|
|
|
NM_001034853.2(RPGR):c.2820_2840dup (p.Asp943_Glu949dup)
|
rs764268405
|
|
|
NM_001034853.2(RPGR):c.2825_2970del (p.Glu942fs)
|
rs2519784068
|
|
|
NM_001034853.2(RPGR):c.2829T>A (p.Asp943Glu)
|
rs201655057
|
|
|
NM_001034853.2(RPGR):c.282_283del (p.Cys94fs)
|
rs2519902274
|
|
|
NM_001034853.2(RPGR):c.2835_2840dup (p.Glu949_Glu950insGlyGlu)
|
rs2067148832
|
|
|
NM_001034853.2(RPGR):c.2836G>T (p.Gly946Trp)
|
rs1333338518
|
|
|
NM_001034853.2(RPGR):c.2838_2839del (p.Glu947fs)
|
rs1555961509
|
|
|
NM_001034853.2(RPGR):c.2840_2841insAGGGGAGGATGGAGAAGGGG (p.Glu950fs)
|
rs2519786220
|
|
|
NM_001034853.2(RPGR):c.2840_2841insAGGGGAGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGA (p.Glu949_Glu950insAspGlyGluGlyGluGlyGluGluGluGluGlyGluTrpGluGlyGlu)
|
rs2519786258
|
|
|
NM_001034853.2(RPGR):c.2841_2863delinsAGGGGAGGATGGAGAAG (p.Glu950_Trp955delinsAspGlyGluGly)
|
rs2519785937
|
|
|
NM_001034853.2(RPGR):c.2843G>A (p.Gly948Glu)
|
|
|
|
NM_001034853.2(RPGR):c.2844G>A (p.Gly948=)
|
|
|
|
NM_001034853.2(RPGR):c.2845G>A (p.Glu949Lys)
|
rs1601919951
|
|
|
NM_001034853.2(RPGR):c.2845G>T (p.Glu949Ter)
|
rs1601919951
|
|
|
NM_001034853.2(RPGR):c.2845del (p.Glu949fs)
|
rs2067148119
|
|
|
NM_001034853.2(RPGR):c.2847_2856delinsGGAT (p.Glu950_Glu952delinsAsp)
|
rs2519785985
|
|
|
NM_001034853.2(RPGR):c.2850GGA[1] (p.Glu952del)
|
rs2519785995
|
|
|
NM_001034853.2(RPGR):c.2851_2854dup (p.Glu952fs)
|
rs2519786021
|
|
|
NM_001034853.2(RPGR):c.2852A>G (p.Glu951Gly)
|
rs2519786062
|
|
|
NM_001034853.2(RPGR):c.2854G>A (p.Glu952Lys)
|
rs2519786005
|
|
|
NM_001034853.2(RPGR):c.2854G>T (p.Glu952Ter)
|
rs2519786005
|
|
|
NM_001034853.2(RPGR):c.2856A>G (p.Glu952=)
|
rs757164085
|
|
|
NM_001034853.2(RPGR):c.2863_2866del (p.Trp955fs)
|
rs2519785890
|
|
|
NM_001034853.2(RPGR):c.2863_2889dup (p.Glu963_Gly964insTrpGluGlyGluGluGluGluGlyGlu)
|
rs1223013740
|
|
|
NM_001034853.2(RPGR):c.2865G>A (p.Trp955Ter)
|
rs2067146202
|
|
|
NM_001034853.2(RPGR):c.2867del (p.Glu956fs)
|
rs2067146007
|
|
|
NM_001034853.2(RPGR):c.2871G>A (p.Gly957=)
|
rs1442896340
|
|
|
NM_001034853.2(RPGR):c.2872del (p.Glu958fs)
|
|
|
|
NM_001034853.2(RPGR):c.2873_2874insGGATGGAGGAAGGAGAAGGGGAAGGGGAGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGA (p.Glu959fs)
|
rs2519785831
|
|
|
NM_001034853.2(RPGR):c.2875_2876insGGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAG (p.944_958GE[3]EEEGEWEGEGEEGEGEGEEEEGEWEGE[1])
|
rs1569236068
|
|
|
NM_001034853.2(RPGR):c.2876A>G (p.Glu959Gly)
|
rs1255344069
|
|
|
NM_001034853.2(RPGR):c.2877GGA[1] (p.Glu961del)
|
rs1285073212
|
|
|
NM_001034853.2(RPGR):c.2878G>T (p.Glu960Ter)
|
rs2519785746
|
|
|
NM_001034853.2(RPGR):c.287G>A (p.Arg96Lys)
|
rs2147285696
|
|
|
NM_001034853.2(RPGR):c.2892_2893del (p.Glu965fs)
|
rs2067144007
|
|
|
NM_001034853.2(RPGR):c.2893G>T (p.Glu965Ter)
|
rs1420285326
|
|
|
NM_001034853.2(RPGR):c.2894del (p.Glu965fs)
|
rs2147193654
|
|
|
NM_001034853.2(RPGR):c.2899del (p.Glu967fs)
|
|
|
|
NM_001034853.2(RPGR):c.29-17C>A
|
rs1174636036
|
|
|
NM_001034853.2(RPGR):c.2904G>A (p.Glu968=)
|
rs2067142548
|
|
|
NM_001034853.2(RPGR):c.2904_2906dup (p.Glu969_Gly970insGlu)
|
rs1555961470
|
|
|
NM_001034853.2(RPGR):c.2906_2907insGGAAGGAGAATGGGAGGGGGAAGAGGA (p.Glu969_Gly970insGluGlyGluTrpGluGlyGluGluGlu)
|
rs2519785385
|
|
|
NM_001034853.2(RPGR):c.2910_2914del (p.Glu971fs)
|
rs2519785175
|
|
|
NM_001034853.2(RPGR):c.2914G>A (p.Gly972Arg)
|
rs2519785162
|
|
|
NM_001034853.2(RPGR):c.2917G>T (p.Glu973Ter)
|
rs2067140471
|
|
|
NM_001034853.2(RPGR):c.2919A>G (p.Glu973=)
|
rs1601919356
|
|
|
NM_001034853.2(RPGR):c.2919_2939dup (p.970GEGEGEE[3])
|
rs772859148
|
|
|
NM_001034853.2(RPGR):c.2921_2947dup (p.Glu982_Glu983insGlyGluGluGlyGluGlyGluGlyGlu)
|
rs2519784470
|
|
|
NM_001034853.2(RPGR):c.2923dup (p.Glu975fs)
|
rs2519784938
|
|
|
NM_001034853.2(RPGR):c.2927_2941del (p.971EGEGE[1])
|
rs1486850638
|
|
|
NM_001034853.2(RPGR):c.2931AGAAGGGGAGGGGGAAGAGGAGGAAGG[1] (p.979GEGEEEEGE[1])
|
rs767258184
|
|
|
NM_001034853.2(RPGR):c.2935G>T (p.Gly979Trp)
|
rs2067138677
|
|
|
NM_001034853.2(RPGR):c.2937G>C (p.Gly979=)
|
rs1165776433
|
|
|
NM_001034853.2(RPGR):c.2937_2938del (p.Glu980fs)
|
rs2067138439
|
|
|
NM_001034853.2(RPGR):c.2938dup (p.Glu980fs)
|
|
|
|
NM_001034853.2(RPGR):c.2939_2940insAGGGGAGGAAGAAGGGGA (p.Glu984_Glu985insGlyGluGlyGluGluGlu)
|
rs2519784625
|
|
|
NM_001034853.2(RPGR):c.2939_2940insAGGGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAAGGGGAGGAAGGAGAAGGGGA (p.Glu983_Glu984insGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGlyGluGlyGluGlyGluGlu)
|
rs772859148
|
|
|
NM_001034853.2(RPGR):c.2939_2940insAGGGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAAGGAGAAGGGGAAGGGGAGGAAGGAGAAGGGGAAGGGGAGGAAGGAGAAGGGGA (p.Glu983_Glu984insGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGlyGluGlyGluGlyGluGluGlyGluGlyGluGlyGluGlu)
|
|
|
|
NM_001034853.2(RPGR):c.2939del (p.Glu980fs)
|
rs2519784620
|
|
|
NM_001034853.2(RPGR):c.2944del (p.Glu982fs)
|
rs2519784531
|
|
|
NM_001034853.2(RPGR):c.2945_2964del (p.Glu982fs)
|
rs2067135227
|
|
|
NM_001034853.2(RPGR):c.2946_2951del (p.Glu984_Glu985del)
|
rs767210576
|
|
|
NM_001034853.2(RPGR):c.2953G>T (p.Glu985Ter)
|
rs2519784367
|
|
|
NM_001034853.2(RPGR):c.2962G>A (p.Gly988Arg)
|
rs1569235768
|
|
|
NM_001034853.2(RPGR):c.2964_2965del (p.Glu989fs)
|
rs1555961440
|
|
|
NM_001034853.2(RPGR):c.2965G>T (p.Glu989Ter)
|
rs1199880148
|
|
|
NM_001034853.2(RPGR):c.2966del (p.Glu989fs)
|
rs2067134850
|
|
|
NM_001034853.2(RPGR):c.2971del (p.Glu991fs)
|
rs2067134254
|
|
|
NM_001034853.2(RPGR):c.2976G>A (p.Glu992=)
|
rs1307512218
|
|
|
NM_001034853.2(RPGR):c.2976_2990del (p.989EGEEE[1])
|
rs761365864
|
|
|
NM_001034853.2(RPGR):c.2987AAG[2] (p.Glu998del)
|
rs1356107537
|
|
|
NM_001034853.2(RPGR):c.2988A>G (p.Glu996=)
|
rs2067132495
|
|
|
NM_001034853.2(RPGR):c.2988_2999del (p.993EEGE[2])
|
|
|
|
NM_001034853.2(RPGR):c.2988_2999dup (p.Glu1004_Gly1005insGluGluGlyGlu)
|
rs2519783552
|
|
|
NM_001034853.2(RPGR):c.2992G>T (p.Glu998Ter)
|
rs2067131596
|
|
|
NM_001034853.2(RPGR):c.2993_2997del (p.Glu998fs)
|
rs2519783609
|
|
|
NM_001034853.2(RPGR):c.2994del (p.Glu1000fs)
|
rs2519783670
|
|
|
NM_001034853.2(RPGR):c.2997_2998del (p.Glu1000fs)
|
rs2519783585
|
|
|
NM_001034853.2(RPGR):c.2997_3008del (p.993EEGE[2])
|
rs2067130298
|
|
|
NM_001034853.2(RPGR):c.3002AAG[1] (p.Glu1002del)
|
rs1555961406
|
|
|
NM_001034853.2(RPGR):c.3007_3008del (p.Gly1003fs)
|
rs2519783409
|
|
|
NM_001034853.2(RPGR):c.3007_3010del (p.Gly1003fs)
|
rs2519783360
|
|
|
NM_001034853.2(RPGR):c.3008_3010del (p.Gly1003del)
|
rs1465232215
|
|
|
NM_001034853.2(RPGR):c.3008_3022dup (p.Glu1007_Glu1008insGlyGluGlyGluGlu)
|
|
|
|
NM_001034853.2(RPGR):c.3009_3026del (p.1001EEGEGE[1])
|
|
|
|
NM_001034853.2(RPGR):c.3009_3038del (p.Gly1005_Glu1014del)
|
|
|
|
NM_001034853.2(RPGR):c.3011_3012del (p.Glu1004fs)
|
|
|
|
NM_001034853.2(RPGR):c.3017_3018del (p.Glu1006fs)
|
rs2519783212
|
|
|
NM_001034853.2(RPGR):c.3018G>A (p.Glu1006=)
|
rs2067129513
|
|
|
NM_001034853.2(RPGR):c.3018G>C (p.Glu1006Asp)
|
rs2067129513
|
|
|
NM_001034853.2(RPGR):c.3020AAG[1] (p.Glu1008del)
|
rs2067129078
|
|
|
NM_001034853.2(RPGR):c.3020_3031del (p.Glu1007_Glu1010del)
|
rs748744854
|
|
|
NM_001034853.2(RPGR):c.3022G>A (p.Glu1008Lys)
|
rs1481259687
|
|
|
NM_001034853.2(RPGR):c.3027_3028del (p.Glu1010fs)
|
rs1569235565
|
|
|
NM_001034853.2(RPGR):c.3032_3043del (p.1009GE[1])
|
rs776003342
|
|
|
NM_001034853.2(RPGR):c.3039_3040del (p.Glu1014fs)
|
rs2067127718
|
|
|
NM_001034853.2(RPGR):c.3040del (p.Glu1014fs)
|
rs2067127718
|
|
|
NM_001034853.2(RPGR):c.3044A>G (p.Glu1015Gly)
|
rs2147191861
|
|
|
NM_001034853.2(RPGR):c.3051_3053del (p.Glu1018del)
|
rs200955614
|
|
|
NM_001034853.2(RPGR):c.3051_3065del (p.Glu1018_Glu1022del)
|
rs1300993775
|
|
|
NM_001034853.2(RPGR):c.305C>G (p.Ser102Ter)
|
rs2519902120
|
|
|
NM_001034853.2(RPGR):c.3060_3071del (p.1021_1024VEGE[1])
|
rs199896738
|
|
|
NM_001034853.2(RPGR):c.3062TGGAAGGGGAGG[1] (p.1021VEGE[1])
|
rs201134185
|
|
|
NM_001034853.2(RPGR):c.3062TGGAAGGGGAGG[3] (p.Glu1028_Glu1029insValGluGlyGlu)
|
rs201134185
|
|
|
NM_001034853.2(RPGR):c.3070G>C (p.Glu1024Gln)
|
rs1799325384
|
|
|
NM_001034853.2(RPGR):c.3071A>G (p.Glu1024Gly)
|
rs754860829
|
|
|
NM_001034853.2(RPGR):c.3081_3082del (p.Glu1028fs)
|
rs1601918140
|
|
|
NM_001034853.2(RPGR):c.3082G>T (p.Glu1028Ter)
|
rs1296728483
|
|
|
NM_001034853.2(RPGR):c.308C>T (p.Thr103Ile)
|
rs2147285611
|
|
|
NM_001034853.2(RPGR):c.3092_3093del (p.Glu1031fs)
|
rs606231181
|
|
|
NM_001034853.2(RPGR):c.3092del (p.Glu1031fs)
|
rs1186795749
|
|
|
NM_001034853.2(RPGR):c.3095_3106del (p.1030GE[1])
|
rs778085735
|
|
|
NM_001034853.2(RPGR):c.3096_3097del (p.Glu1033fs)
|
rs606231180
|
|
|
NM_001034853.2(RPGR):c.3097del (p.Glu1033fs)
|
rs606231180
|
|
|
NM_001034853.2(RPGR):c.310+1G>C
|
rs62638639
|
|
|
NM_001034853.2(RPGR):c.310+3A>G
|
rs62638640
|
|
|
NM_001034853.2(RPGR):c.3104_3105del (p.Glu1035fs)
|
rs1601917999
|
|
|
NM_001034853.2(RPGR):c.3106del (p.Glu1036fs)
|
rs2519781820
|
|
|
NM_001034853.2(RPGR):c.3108_3122del (p.1033EGEEE[1])
|
rs774012136
|
|
|
NM_001034853.2(RPGR):c.3109G>T (p.Glu1037Ter)
|
rs866524368
|
|
|
NM_001034853.2(RPGR):c.311-10C>A
|
rs2067879372
|
|
|
NM_001034853.2(RPGR):c.311-6G>A
|
rs2519895368
|
|
|
NM_001034853.2(RPGR):c.3114_3122del (p.Gly1039_Glu1041del)
|
rs763694930
|
|
|
NM_001034853.2(RPGR):c.3116_3118del (p.Gly1039del)
|
rs200211905
|
|
|
NM_001034853.2(RPGR):c.3120GGA[1] (p.Glu1042del)
|
rs748582313
|
|
|
NM_001034853.2(RPGR):c.3129A>G (p.Gly1043=)
|
|
|
|
NM_001034853.2(RPGR):c.3133G>T (p.Glu1045Ter)
|
rs2519781357
|
|
|
NM_001034853.2(RPGR):c.3143AGG[1] (p.Glu1049del)
|
rs1285695770
|
|
|
NM_001034853.2(RPGR):c.3146A>T (p.Glu1049Val)
|
|
|
|
NM_001034853.2(RPGR):c.3149G>A (p.Gly1050Glu)
|
rs866249611
|
|
|
NM_001034853.2(RPGR):c.3160G>T (p.Glu1054Ter)
|
rs2067118339
|
|
|
NM_001034853.2(RPGR):c.3166_3167del (p.Arg1056fs)
|
rs2519781120
|
|
|
NM_001034853.2(RPGR):c.3167GGA[1] (p.Arg1057del)
|
rs777132996
|
|
|
NM_001034853.2(RPGR):c.3172A>G (p.Asn1058Asp)
|
rs892594567
|
|
|
NM_001034853.2(RPGR):c.3178_3179del (p.Glu1060fs)
|
rs771214648
|
|
|
NM_001034853.2(RPGR):c.3183GGA[2] (p.Glu1066del)
|
rs746535151
|
|
|
NM_001034853.2(RPGR):c.3186G>C (p.Glu1062Asp)
|
rs2519781008
|
|
|
NM_001034853.2(RPGR):c.3197_3198del (p.Glu1066fs)
|
rs2519780933
|
|
|
NM_001034853.2(RPGR):c.3199G>A (p.Gly1067Arg)
|
rs747633561
|
|
|
NM_001034853.2(RPGR):c.3215C>T (p.Thr1072Ile)
|
|
|
|
NM_001034853.2(RPGR):c.3220G>T (p.Glu1074Ter)
|
rs1259306034
|
|
|
NM_001034853.2(RPGR):c.3238_3241del (p.Gln1080fs)
|
|
|
|
NM_001034853.2(RPGR):c.3248_3252del (p.Glu1083fs)
|
rs2519780546
|
|
|
NM_001034853.2(RPGR):c.3250G>T (p.Glu1084Ter)
|
rs2519780558
|
|
|
NM_001034853.2(RPGR):c.3255C>A (p.Tyr1085Ter)
|
rs2519780519
|
|
|
NM_001034853.2(RPGR):c.3255del (p.Glu1084_Tyr1085insTer)
|
rs2067115815
|
|
|
NM_001034853.2(RPGR):c.3266G>A (p.Ser1089Asn)
|
rs1364050231
|
|
|
NM_001034853.2(RPGR):c.3279A>T (p.Gly1093=)
|
|
|
|
NM_001034853.2(RPGR):c.327dup (p.Ala110fs)
|
rs2067878443
|
|
|
NM_001034853.2(RPGR):c.3291T>C (p.Tyr1097=)
|
rs932485616
|
|
|
NM_001034853.2(RPGR):c.3309T>C (p.Tyr1103=)
|
|
|
|
NM_001034853.2(RPGR):c.3313A>T (p.Lys1105Ter)
|
rs2519780233
|
|
|
NM_001034853.2(RPGR):c.3316_3319del (p.Lys1106fs)
|
rs2519780183
|
|
|
NM_001034853.2(RPGR):c.3317A>G (p.Lys1106Arg)
|
rs574644551
|
|
|
NM_001034853.2(RPGR):c.3317A>T (p.Lys1106Met)
|
rs574644551
|
|
|
NM_001034853.2(RPGR):c.3317del (p.Lys1106fs)
|
rs886041376
|
|
|
NM_001034853.2(RPGR):c.3317dup (p.Ser1107fs)
|
rs886041376
|
|
|
NM_001034853.2(RPGR):c.3342T>G (p.Asn1114Lys)
|
rs2519780048
|
|
|
NM_001034853.2(RPGR):c.3348del (p.Glu1117fs)
|
rs2519780040
|
|
|
NM_001034853.2(RPGR):c.334G>A (p.Gly112Ser)
|
rs2519895230
|
|
|
NM_001034853.2(RPGR):c.335G>A (p.Gly112Asp)
|
rs2067878321
|
|
|
NM_001034853.2(RPGR):c.335del (p.Gly112fs)
|
rs2519895210
|
|
|
NM_001034853.2(RPGR):c.3364dup (p.Met1122fs)
|
rs2519779932
|
|
|
NM_001034853.2(RPGR):c.3377C>T (p.Ser1126Leu)
|
rs2519779875
|
|
|
NM_001034853.2(RPGR):c.3382C>T (p.Arg1128Ter)
|
|
|
|
NM_001034853.2(RPGR):c.3384A>C (p.Arg1128=)
|
rs2519779837
|
|
|
NM_001034853.2(RPGR):c.3389del (p.Leu1129_Leu1130insTer)
|
rs2519779829
|
|
|
NM_001034853.2(RPGR):c.3395del (p.Asn1132fs)
|
rs2519779804
|
|
|
NM_001034853.2(RPGR):c.3396C>A (p.Asn1132Lys)
|
rs12687163
|
|
|
NM_001034853.2(RPGR):c.3396del (p.Asn1132fs)
|
rs2519779790
|
|
|
NM_001034853.2(RPGR):c.3405A>T (p.Ser1135=)
|
rs2519779715
|
|
|
NM_001034853.2(RPGR):c.3423G>A (p.Trp1141Ter)
|
rs2067111911
|
|
|
NM_001034853.2(RPGR):c.3423G>T (p.Trp1141Cys)
|
rs2067111911
|
|
|
NM_001034853.2(RPGR):c.3430G>C (p.Val1144Leu)
|
|
|
|
NM_001034853.2(RPGR):c.344A>G (p.Asn115Ser)
|
rs2147280549
|
|
|
NM_001034853.2(RPGR):c.3451T>C (p.Leu1151=)
|
rs2519779445
|
|
|
NM_001034853.2(RPGR):c.349_350insA (p.Gly117fs)
|
rs2519895161
|
|
|
NM_001034853.2(RPGR):c.350G>A (p.Gly117Glu)
|
rs2519895135
|
|
|
NM_001034853.2(RPGR):c.353A>C (p.Gln118Pro)
|
rs2519895122
|
|
|
NM_001034853.2(RPGR):c.354G>C (p.Gln118His)
|
rs2147280538
|
|
|
NM_001034853.2(RPGR):c.356T>C (p.Leu119Ser)
|
rs2519895095
|
|
|
NM_001034853.2(RPGR):c.369C>G (p.Asp123Glu)
|
rs2147280505
|
|
|
NM_001034853.2(RPGR):c.372C>T (p.Thr124=)
|
|
|
|
NM_001034853.2(RPGR):c.372del (p.Glu125fs)
|
rs62638642
|
|
|
NM_001034853.2(RPGR):c.379A>G (p.Arg127Gly)
|
rs62638643
|
|
|
NM_001034853.2(RPGR):c.389T>C (p.Phe130Ser)
|
rs62638644
|
|
|
NM_001034853.2(RPGR):c.397A>T (p.Ile133Phe)
|
rs2519894710
|
|
|
NM_001034853.2(RPGR):c.39T>C (p.Ala13=)
|
rs2519912830
|
|
|
NM_001034853.2(RPGR):c.408T>A (p.Phe136Leu)
|
rs2519894661
|
|
|
NM_001034853.2(RPGR):c.414C>G (p.Ser138=)
|
rs376887697
|
|
|
NM_001034853.2(RPGR):c.417G>A (p.Glu139=)
|
rs777541233
|
|
|
NM_001034853.2(RPGR):c.41T>A (p.Val14Glu)
|
rs2519912779
|
|
|
NM_001034853.2(RPGR):c.41dup (p.Phe15fs)
|
rs2519912793
|
|
|
NM_001034853.2(RPGR):c.42G>C (p.Val14=)
|
rs2519912758
|
|
|
NM_001034853.2(RPGR):c.430C>T (p.Gln144Ter)
|
rs2519894537
|
|
|
NM_001034853.2(RPGR):c.436T>C (p.Ser146Pro)
|
rs2147280274
|
|
|
NM_001034853.2(RPGR):c.439G>A (p.Ala147Thr)
|
rs2519894515
|
|
|
NM_001034853.2(RPGR):c.442G>A (p.Gly148Arg)
|
rs2067876063
|
|
|
NM_001034853.2(RPGR):c.442G>C (p.Gly148Arg)
|
rs2067876063
|
|
|
NM_001034853.2(RPGR):c.448A>G (p.Asn150Asp)
|
|
|
|
NM_001034853.2(RPGR):c.452C>T (p.Thr151Ile)
|
rs1060501180
|
|
|
NM_001034853.2(RPGR):c.454T>C (p.Ser152Pro)
|
rs2519894426
|
|
|
NM_001034853.2(RPGR):c.455del (p.Thr151_Ser152insTer)
|
|
|
|
NM_001034853.2(RPGR):c.466A>G (p.Thr156Ala)
|
rs1315339022
|
|
|
NM_001034853.2(RPGR):c.467C>A (p.Thr156Asn)
|
rs751512713
|
|
|
NM_001034853.2(RPGR):c.467C>G (p.Thr156Ser)
|
|
|
|
NM_001034853.2(RPGR):c.469+13del
|
rs2519894266
|
|
|
NM_001034853.2(RPGR):c.469+18T>C
|
rs2519894236
|
|
|
NM_001034853.2(RPGR):c.469+4A>G
|
rs2519894326
|
|
|
NM_001034853.2(RPGR):c.470-1G>A
|
rs2519889525
|
|
|
NM_001034853.2(RPGR):c.482T>G (p.Leu161Arg)
|
|
|
|
NM_001034853.2(RPGR):c.485_486del (p.Phe162fs)
|
rs281865297
|
|
|
NM_001034853.2(RPGR):c.488T>A (p.Met163Lys)
|
rs2519889411
|
|
|
NM_001034853.2(RPGR):c.490T>G (p.Trp164Gly)
|
rs2519889391
|
|
|
NM_001034853.2(RPGR):c.493G>C (p.Gly165Arg)
|
rs2067847091
|
|
|
NM_001034853.2(RPGR):c.501T>A (p.Asn167Lys)
|
rs2147276925
|
|
|
NM_001034853.2(RPGR):c.503C>A (p.Ser168Tyr)
|
rs1601972432
|
|
|
NM_001034853.2(RPGR):c.505G>T (p.Glu169Ter)
|
rs369037463
|
|
|
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.536del (p.Asn179fs)
|
rs2519889046
|
|
|
NM_001034853.2(RPGR):c.550C>T (p.Gln184Ter)
|
rs2519888989
|
|
|
NM_001034853.2(RPGR):c.561_562insTTG (p.Thr187_Ile188insLeu)
|
rs779230198
|
|
|
NM_001034853.2(RPGR):c.562A>G (p.Ile188Val)
|
rs2519888929
|
|
|
NM_001034853.2(RPGR):c.581G>A (p.Trp194Ter)
|
rs62650216
|
|
|
NM_001034853.2(RPGR):c.587C>G (p.Ser196Cys)
|
rs2519888780
|
|
|
NM_001034853.2(RPGR):c.592G>A (p.Gly198Arg)
|
rs1601972255
|
|
|
NM_001034853.2(RPGR):c.605C>T (p.Ser202Leu)
|
|
|
|
NM_001034853.2(RPGR):c.607G>C (p.Ala203Pro)
|
rs2519888607
|
|
|
NM_001034853.2(RPGR):c.617C>G (p.Thr206Arg)
|
rs1555967757
|
|
|
NM_001034853.2(RPGR):c.617C>T (p.Thr206Ile)
|
rs1555967757
|
|
|
NM_001034853.2(RPGR):c.619+10A>G
|
|
|
|
NM_001034853.2(RPGR):c.619+11T>C
|
rs2519888369
|
|
|
NM_001034853.2(RPGR):c.619+18G>A
|
rs368570763
|
|
|
NM_001034853.2(RPGR):c.619+2_619+5del
|
rs2519888486
|
|
|
NM_001034853.2(RPGR):c.619+5G>A
|
rs62638649
|
|
|
NM_001034853.2(RPGR):c.619+5G>C
|
rs62638649
|
|
|
NM_001034853.2(RPGR):c.619+7C>T
|
|
|
|
NM_001034853.2(RPGR):c.620-2A>G
|
rs138313492
|
|
|
NM_001034853.2(RPGR):c.620-6C>T
|
rs1206563121
|
|
|
NM_001034853.2(RPGR):c.643G>A (p.Gly215Arg)
|
|
|
|
NM_001034853.2(RPGR):c.646G>A (p.Glu216Lys)
|
rs2519866506
|
|
|
NM_001034853.2(RPGR):c.676A>G (p.Asn226Asp)
|
rs2519866284
|
|
|
NM_001034853.2(RPGR):c.677A>C (p.Asn226Thr)
|
rs760123267
|
|
|
NM_001034853.2(RPGR):c.679C>T (p.Gln227Ter)
|
rs2067700774
|
|
|
NM_001034853.2(RPGR):c.680A>G (p.Gln227Arg)
|
rs774988145
|
|
|
NM_001034853.2(RPGR):c.68C>A (p.Ala23Asp)
|
rs2147291804
|
|
|
NM_001034853.2(RPGR):c.691A>C (p.Asn231His)
|
|
|
|
NM_001034853.2(RPGR):c.692A>G (p.Asn231Ser)
|
rs2519866092
|
|
|
NM_001034853.2(RPGR):c.706C>T (p.Gln236Ter)
|
rs62638652
|
|
|
NM_001034853.2(RPGR):c.711G>C (p.Leu237=)
|
|
|
|
NM_001034853.2(RPGR):c.718G>T (p.Glu240Ter)
|
rs2519865852
|
|
|
NM_001034853.2(RPGR):c.725C>A (p.Pro242Gln)
|
rs773408909
|
|
|
NM_001034853.2(RPGR):c.735G>A (p.Val245=)
|
rs2067699104
|
|
|
NM_001034853.2(RPGR):c.739C>T (p.Gln247Ter)
|
rs2519865708
|
|
|
NM_001034853.2(RPGR):c.749G>A (p.Cys250Tyr)
|
rs1601961064
|
|
|
NM_001034853.2(RPGR):c.752G>A (p.Gly251Asp)
|
rs1555966699
|
|
|
NM_001034853.2(RPGR):c.754G>A (p.Gly252Arg)
|
rs2519865575
|
|
|
NM_001034853.2(RPGR):c.774C>T (p.Leu258=)
|
rs2519865438
|
|
|
NM_001034853.2(RPGR):c.778+1G>A
|
rs2519865384
|
|
|
NM_001034853.2(RPGR):c.778+7G>A
|
rs2519865311
|
|
|
NM_001034853.2(RPGR):c.779-1G>A
|
rs62638655
|
|
|
NM_001034853.2(RPGR):c.779-5T>G
|
rs2067565504
|
|
|
NM_001034853.2(RPGR):c.792dup (p.Thr265fs)
|
rs2519847459
|
|
|
NM_001034853.2(RPGR):c.793_794dup (p.Phe266fs)
|
rs2519847450
|
|
|
NM_001034853.2(RPGR):c.800G>T (p.Gly267Val)
|
rs2147248019
|
|
|
NM_001034853.2(RPGR):c.806G>A (p.Gly269Glu)
|
rs398123336
|
|
|
NM_001034853.2(RPGR):c.814G>T (p.Gly272Cys)
|
rs2519847311
|
|
|
NM_001034853.2(RPGR):c.815G>T (p.Gly272Val)
|
rs2519847298
|
|
|
NM_001034853.2(RPGR):c.81C>T (p.Pro27=)
|
|
|
|
NM_001034853.2(RPGR):c.81del (p.Gly28fs)
|
rs2519912523
|
|
|
NM_001034853.2(RPGR):c.823G>A (p.Gly275Ser)
|
rs62642057
|
|
|
NM_001034853.2(RPGR):c.823G>C (p.Gly275Arg)
|
rs62642057
|
|
|
NM_001034853.2(RPGR):c.823G>T (p.Gly275Cys)
|
rs62642057
|
|
|
NM_001034853.2(RPGR):c.824G>A (p.Gly275Asp)
|
rs2519847231
|
|
|
NM_001034853.2(RPGR):c.837del (p.Leu280fs)
|
rs62640586
|
|
|
NM_001034853.2(RPGR):c.838C>G (p.Leu280Val)
|
|
|
|
NM_001034853.2(RPGR):c.838_842del (p.Phe279_Leu280insTer)
|
rs2519847164
|
|
|
NM_001034853.2(RPGR):c.843T>C (p.Phe281=)
|
rs2067563723
|
|
|
NM_001034853.2(RPGR):c.858C>T (p.Pro286=)
|
rs1387222365
|
|
|
NM_001034853.2(RPGR):c.865A>C (p.Ile289Leu)
|
|
|
|
NM_001034853.2(RPGR):c.869del (p.Glu290fs)
|
rs62640588
|
|
|
NM_001034853.2(RPGR):c.871A>T (p.Asn291Tyr)
|
|
|
|
NM_001034853.2(RPGR):c.872A>G (p.Asn291Ser)
|
rs778350385
|
|
|
NM_001034853.2(RPGR):c.87A>G (p.Lys29=)
|
rs2519912391
|
|
|
NM_001034853.2(RPGR):c.900T>G (p.Ile300Met)
|
rs2519846833
|
|
|
NM_001034853.2(RPGR):c.905G>A (p.Cys302Tyr)
|
rs62640590
|
|
|
NM_001034853.2(RPGR):c.928A>T (p.Ile310Leu)
|
|
|
|
NM_001034853.2(RPGR):c.934+1G>C
|
rs62640592
|
|
|
NM_001034853.2(RPGR):c.934+7A>G
|
rs2067561255
|
|
|
NM_001034853.2(RPGR):c.934G>T (p.Asp312Tyr)
|
rs2519846634
|
|
|
NM_001034853.2(RPGR):c.935-2A>G
|
rs2067498092
|
|
|
NM_001034853.2(RPGR):c.93G>A (p.Trp31Ter)
|
rs2519912364
|
|
|
NM_001034853.2(RPGR):c.948G>A (p.Met316Ile)
|
rs2519836659
|
|
|
NM_001034853.2(RPGR):c.964G>A (p.Gly322Ser)
|
rs1220686223
|
|
|
NM_001034853.2(RPGR):c.967C>G (p.Arg323Gly)
|
rs757712647
|
|
|
NM_001034853.2(RPGR):c.972C>G (p.His324Gln)
|
rs771739225
|
|
|
NM_001034853.2(RPGR):c.97A>T (p.Lys33Ter)
|
rs2519912343
|
|
|
NM_001190787.3(MCIDAS):c.1001C>G (p.Ala334Gly)
|
rs1745333319
|
|
|
NM_001190787.3(MCIDAS):c.1004T>A (p.Leu335Ter)
|
rs1291689114
|
|
|
NM_001190787.3(MCIDAS):c.102G>C (p.Pro34=)
|
rs1232343628
|
|
|
NM_001190787.3(MCIDAS):c.1041C>T (p.Ser347=)
|
|
|
|
NM_001190787.3(MCIDAS):c.1053C>T (p.Arg351=)
|
rs2478508075
|
|
|
NM_001190787.3(MCIDAS):c.1054A>C (p.Ile352Leu)
|
rs1561114463
|
|
|
NM_001190787.3(MCIDAS):c.1076G>T (p.Arg359Leu)
|
rs1561114448
|
|
|
NM_001190787.3(MCIDAS):c.1091C>G (p.Pro364Arg)
|
rs1288969228
|
|
|
NM_001190787.3(MCIDAS):c.1142G>A (p.Arg381His)
|
rs797045152
|
|
|
NM_001190787.3(MCIDAS):c.1142G>T (p.Arg381Leu)
|
|
|
|
NM_001190787.3(MCIDAS):c.1154G>T (p.Ser385Ile)
|
rs1745327756
|
|
|
NM_001190787.3(MCIDAS):c.120+2T>C
|
|
|
|
NM_001190787.3(MCIDAS):c.121-19C>A
|
rs181955833
|
|
|
NM_001190787.3(MCIDAS):c.121-6G>T
|
rs1398796074
|
|
|
NM_001190787.3(MCIDAS):c.135del (p.Lys46fs)
|
rs1561117442
|
|
|
NM_001190787.3(MCIDAS):c.139T>C (p.Phe47Leu)
|
rs2111703044
|
|
|
NM_001190787.3(MCIDAS):c.149del (p.Gly50fs)
|
rs2478527360
|
|
|
NM_001190787.3(MCIDAS):c.150A>G (p.Gly50=)
|
rs2478527344
|
|
|
NM_001190787.3(MCIDAS):c.167C>T (p.Pro56Leu)
|
rs1745466454
|
|
|
NM_001190787.3(MCIDAS):c.174G>A (p.Ser58=)
|
|
|
|
NM_001190787.3(MCIDAS):c.174G>C (p.Ser58=)
|
rs1580406464
|
|
|
NM_001190787.3(MCIDAS):c.217+17C>T
|
|
|
|
NM_001190787.3(MCIDAS):c.217+3G>A
|
rs889923610
|
|
|
NM_001190787.3(MCIDAS):c.218-11_218-9del
|
|
|
|
NM_001190787.3(MCIDAS):c.218-13_218-6dup
|
rs771063151
|
|
|
NM_001190787.3(MCIDAS):c.218-14G>C
|
|
|
|
NM_001190787.3(MCIDAS):c.218-15G>C
|
rs1006897380
|
|
|
NM_001190787.3(MCIDAS):c.218-18C>T
|
rs1220983264
|
|
|
NM_001190787.3(MCIDAS):c.218-4G>A
|
rs1439976014
|
|
|
NM_001190787.3(MCIDAS):c.219C>T (p.Ala73=)
|
rs770934368
|
|
|
NM_001190787.3(MCIDAS):c.222C>G (p.Leu74=)
|
rs1462404852
|
|
|
NM_001190787.3(MCIDAS):c.235C>T (p.Leu79=)
|
rs1748230587
|
|
|
NM_001190787.3(MCIDAS):c.235del (p.Leu79fs)
|
rs2111702150
|
|
|
NM_001190787.3(MCIDAS):c.255C>T (p.Cys85=)
|
rs1745459372
|
|
|
NM_001190787.3(MCIDAS):c.268G>T (p.Gly90Trp)
|
rs1251186024
|
|
|
NM_001190787.3(MCIDAS):c.275A>C (p.Asp92Ala)
|
rs1745458730
|
|
|
NM_001190787.3(MCIDAS):c.277G>A (p.Ala93Thr)
|
rs115971569
|
|
|
NM_001190787.3(MCIDAS):c.300C>T (p.Ala100=)
|
rs1296381137
|
|
|
NM_001190787.3(MCIDAS):c.326C>T (p.Thr109Met)
|
rs1484403354
|
|
|
NM_001190787.3(MCIDAS):c.336C>T (p.Asp112=)
|
rs2478515518
|
|
|
NM_001190787.3(MCIDAS):c.33T>A (p.Arg11=)
|
|
|
|
NM_001190787.3(MCIDAS):c.345G>A (p.Leu115=)
|
rs1745389230
|
|
|
NM_001190787.3(MCIDAS):c.382+18G>A
|
|
|
|
NM_001190787.3(MCIDAS):c.382+7G>A
|
rs1580404095
|
|
|
NM_001190787.3(MCIDAS):c.383-10TCT[3]
|
rs2478514095
|
|
|
NM_001190787.3(MCIDAS):c.383-14C>T
|
rs2478514120
|
|
|
NM_001190787.3(MCIDAS):c.383-9C>T
|
|
|
|
NM_001190787.3(MCIDAS):c.38C>A (p.Ala13Asp)
|
rs1745473127
|
|
|
NM_001190787.3(MCIDAS):c.422A>G (p.Asp141Gly)
|
rs759891799
|
|
|
NM_001190787.3(MCIDAS):c.450A>G (p.Ser150=)
|
rs1745376296
|
|
|
NM_001190787.3(MCIDAS):c.498G>A (p.Gln166=)
|
|
|
|
NM_001190787.3(MCIDAS):c.512G>C (p.Arg171Pro)
|
rs1454466899
|
|
|
NM_001190787.3(MCIDAS):c.576G>A (p.Ala192=)
|
rs903733014
|
|
|
NM_001190787.3(MCIDAS):c.576G>T (p.Ala192=)
|
|
|
|
NM_001190787.3(MCIDAS):c.588G>A (p.Ala196=)
|
|
|
|
NM_001190787.3(MCIDAS):c.597G>C (p.Glu199Asp)
|
|
|
|
NM_001190787.3(MCIDAS):c.59A>G (p.Asn20Ser)
|
rs1745472814
|
|
|
NM_001190787.3(MCIDAS):c.604C>G (p.Gln202Glu)
|
rs2111692918
|
|
|
NM_001190787.3(MCIDAS):c.606+16T>G
|
rs1442068417
|
|
|
NM_001190787.3(MCIDAS):c.607-13T>G
|
rs756023466
|
|
|
NM_001190787.3(MCIDAS):c.607-1G>T
|
rs1745349301
|
|
|
NM_001190787.3(MCIDAS):c.609G>A (p.Leu203=)
|
rs2478510720
|
|
|
NM_001190787.3(MCIDAS):c.625C>T (p.Gln209Ter)
|
rs1745348853
|
|
|
NM_001190787.3(MCIDAS):c.638A>G (p.Glu213Gly)
|
rs878854270
|
|
|
NM_001190787.3(MCIDAS):c.642C>A (p.Ile214=)
|
|
|
|
NM_001190787.3(MCIDAS):c.643G>T (p.Ala215Ser)
|
rs1554019120
|
|
|
NM_001190787.3(MCIDAS):c.662_678del (p.Asn221fs)
|
rs1478876274
|
|
|
NM_001190787.3(MCIDAS):c.68T>C (p.Leu23Pro)
|
rs1394102512
|
|
|
NM_001190787.3(MCIDAS):c.717+16G>A
|
rs2111690430
|
|
|
NM_001190787.3(MCIDAS):c.718-5C>T
|
rs2111689984
|
|
|
NM_001190787.3(MCIDAS):c.72A>G (p.Ala24=)
|
rs2111703673
|
|
|
NM_001190787.3(MCIDAS):c.72A>T (p.Ala24=)
|
rs2111703673
|
|
|
NM_001190787.3(MCIDAS):c.72dup (p.Leu25fs)
|
|
|
|
NM_001190787.3(MCIDAS):c.739C>A (p.Arg247=)
|
rs199825346
|
|
|
NM_001190787.3(MCIDAS):c.759C>T (p.Ala253=)
|
rs1454106204
|
|
|
NM_001190787.3(MCIDAS):c.78G>A (p.Pro26=)
|
rs761064821
|
|
|
NM_001190787.3(MCIDAS):c.801G>A (p.Glu267=)
|
|
|
|
NM_001190787.3(MCIDAS):c.843C>T (p.Asp281=)
|
|
|
|
NM_001190787.3(MCIDAS):c.854G>C (p.Arg285Thr)
|
|
|
|
NM_001190787.3(MCIDAS):c.86C>A (p.Ala29Glu)
|
rs1207441843
|
|
|
NM_001190787.3(MCIDAS):c.8C>T (p.Ala3Val)
|
rs1268527093
|
|
|
NM_001190787.3(MCIDAS):c.951G>A (p.Gly317=)
|
|
|
|
NM_001206927.2(DNAH8):c.10042C>A (p.Gln3348Lys)
|
rs1781220169
|
|
|
NM_001206927.2(DNAH8):c.10042C>G (p.Gln3348Glu)
|
rs1781220169
|
|
|
NM_001206927.2(DNAH8):c.10044A>G (p.Gln3348=)
|
|
|
|
NM_001206927.2(DNAH8):c.10048dup (p.Ile3350fs)
|
|
|
|
NM_001206927.2(DNAH8):c.10098G>A (p.Glu3366=)
|
rs2533437718
|
|
|
NM_001206927.2(DNAH8):c.10101A>G (p.Ala3367=)
|
rs2533437754
|
|
|
NM_001206927.2(DNAH8):c.10140+10G>A
|
|
|
|
NM_001206927.2(DNAH8):c.10140+12A>G
|
rs2150540668
|
|
|
NM_001206927.2(DNAH8):c.10140+20C>G
|
|
|
|
NM_001206927.2(DNAH8):c.10141-11C>T
|
rs766949842
|
|
|
NM_001206927.2(DNAH8):c.10147A>G (p.Lys3383Glu)
|
rs2533449096
|
|
|
NM_001206927.2(DNAH8):c.10176A>G (p.Lys3392=)
|
rs2533449405
|
|
|
NM_001206927.2(DNAH8):c.10194T>C (p.His3398=)
|
rs1583346854
|
|
|
NM_001206927.2(DNAH8):c.10233T>G (p.Phe3411Leu)
|
rs1180672703
|
|
|
NM_001206927.2(DNAH8):c.10248C>T (p.Asp3416=)
|
|
|
|
NM_001206927.2(DNAH8):c.10269A>G (p.Glu3423=)
|
rs2533450175
|
|
|
NM_001206927.2(DNAH8):c.1026C>T (p.Thr342=)
|
|
|
|
NM_001206927.2(DNAH8):c.10279del (p.Cys3427fs)
|
rs2533450264
|
|
|
NM_001206927.2(DNAH8):c.10281T>C (p.Cys3427=)
|
|
|
|
NM_001206927.2(DNAH8):c.10286C>T (p.Pro3429Leu)
|
rs1024708882
|
|
|
NM_001206927.2(DNAH8):c.10302dup (p.Leu3435fs)
|
|
|
|
NM_001206927.2(DNAH8):c.10309-20G>A
|
|
|
|
NM_001206927.2(DNAH8):c.10311del (p.Leu3437_Met3438insTer)
|
|
|
|
NM_001206927.2(DNAH8):c.10341T>C (p.Leu3447=)
|
rs2533455282
|
|
|
NM_001206927.2(DNAH8):c.10346A>C (p.Gln3449Pro)
|
rs2533455376
|
|
|
NM_001206927.2(DNAH8):c.10364T>C (p.Ile3455Thr)
|
rs759714537
|
|
|
NM_001206927.2(DNAH8):c.10378G>A (p.Val3460Ile)
|
rs200376058
|
|
|
NM_001206927.2(DNAH8):c.10411G>A (p.Asp3471Asn)
|
|
|
|
NM_001206927.2(DNAH8):c.10416T>C (p.Tyr3472=)
|
|
|
|
NM_001206927.2(DNAH8):c.10421T>C (p.Phe3474Ser)
|
rs538936217
|
|
|
NM_001206927.2(DNAH8):c.10436A>C (p.Lys3479Thr)
|
rs1781445441
|
|
|
NM_001206927.2(DNAH8):c.10483G>A (p.Ala3495Thr)
|
|
|
|
NM_001206927.2(DNAH8):c.10501A>G (p.Asn3501Asp)
|
rs2150548095
|
|
|
NM_001206927.2(DNAH8):c.10524+15C>T
|
rs2533457085
|
|
|
NM_001206927.2(DNAH8):c.10525-15TCT[2]
|
rs748043587
|
|
|
NM_001206927.2(DNAH8):c.10543G>C (p.Glu3515Gln)
|
rs2533477218
|
|
|
NM_001206927.2(DNAH8):c.10545A>G (p.Glu3515=)
|
|
|
|
NM_001206927.2(DNAH8):c.10547G>T (p.Gly3516Val)
|
rs751256547
|
|
|
NM_001206927.2(DNAH8):c.10601A>C (p.Glu3534Ala)
|
|
|
|
NM_001206927.2(DNAH8):c.10608del (p.Ala3537fs)
|
|
|
|
NM_001206927.2(DNAH8):c.10610C>A (p.Ala3537Asp)
|
rs2533477863
|
|
|
NM_001206927.2(DNAH8):c.10624G>T (p.Val3542Leu)
|
rs1316338331
|
|
|
NM_001206927.2(DNAH8):c.10662+14_10662+15del
|
|
|
|
NM_001206927.2(DNAH8):c.10662+20dup
|
rs772003827
|
|
|
NM_001206927.2(DNAH8):c.10662+8T>C
|
rs1177385307
|
|
|
NM_001206927.2(DNAH8):c.10663-12T>C
|
rs1781836746
|
|
|
NM_001206927.2(DNAH8):c.10663-18C>T
|
|
|
|
NM_001206927.2(DNAH8):c.10686G>A (p.Thr3562=)
|
|
|
|
NM_001206927.2(DNAH8):c.10690C>T (p.Arg3564Trp)
|
rs748121138
|
|
|
NM_001206927.2(DNAH8):c.10691G>A (p.Arg3564Gln)
|
rs772835642
|
|
|
NM_001206927.2(DNAH8):c.1070A>G (p.His357Arg)
|
rs1207890931
|
|
|
NM_001206927.2(DNAH8):c.10744dup (p.Ile3582fs)
|
|
|
|
NM_001206927.2(DNAH8):c.10790+8T>C
|
rs1174005025
|
|
|
NM_001206927.2(DNAH8):c.10791-1G>T
|
|
|
|
NM_001206927.2(DNAH8):c.10791-5C>T
|
rs1781917959
|
|
|
NM_001206927.2(DNAH8):c.10795G>A (p.Val3599Ile)
|
rs150171166
|
|
|
NM_001206927.2(DNAH8):c.10795G>T (p.Val3599Leu)
|
rs150171166
|
|
|
NM_001206927.2(DNAH8):c.10820G>T (p.Gly3607Val)
|
rs2533499134
|
|
|
NM_001206927.2(DNAH8):c.10832A>T (p.Tyr3611Phe)
|
rs2150561619
|
|
|
NM_001206927.2(DNAH8):c.10887A>G (p.Glu3629=)
|
rs1781925331
|
|
|
NM_001206927.2(DNAH8):c.10896G>T (p.Leu3632Phe)
|
|
|
|
NM_001206927.2(DNAH8):c.108T>A (p.Pro36=)
|
|
|
|
NM_001206927.2(DNAH8):c.10950G>T (p.Val3650=)
|
rs758150048
|
|
|
NM_001206927.2(DNAH8):c.10963-17C>T
|
rs2533515474
|
|
|
NM_001206927.2(DNAH8):c.10971G>A (p.Glu3657=)
|
|
|
|
NM_001206927.2(DNAH8):c.11045A>T (p.Tyr3682Phe)
|
rs746378835
|
|
|
NM_001206927.2(DNAH8):c.11064A>G (p.Pro3688=)
|
rs763208882
|
|
|
NM_001206927.2(DNAH8):c.11076C>T (p.Gly3692=)
|
rs1323074664
|
|
|
NM_001206927.2(DNAH8):c.11118+3A>G
|
|
|
|
NM_001206927.2(DNAH8):c.11119-3del
|
rs757577568
|
|
|
NM_001206927.2(DNAH8):c.11148C>T (p.Arg3716=)
|
|
|
|
NM_001206927.2(DNAH8):c.1116+4A>T
|
rs2534082547
|
|
|
NM_001206927.2(DNAH8):c.11161G>A (p.Asp3721Asn)
|
rs755050080
|
|
|
NM_001206927.2(DNAH8):c.11162A>G (p.Asp3721Gly)
|
rs2533538879
|
|
|
NM_001206927.2(DNAH8):c.11182C>G (p.Pro3728Ala)
|
rs138016358
|
|
|
NM_001206927.2(DNAH8):c.11182C>T (p.Pro3728Ser)
|
rs138016358
|
|
|
NM_001206927.2(DNAH8):c.11184C>G (p.Pro3728=)
|
rs114401631
|
|
|
NM_001206927.2(DNAH8):c.11196G>A (p.Glu3732=)
|
rs2533539641
|
|
|
NM_001206927.2(DNAH8):c.11235A>G (p.Val3745=)
|
|
|
|
NM_001206927.2(DNAH8):c.1124T>A (p.Ile375Asn)
|
rs759866696
|
|
|
NM_001206927.2(DNAH8):c.1124_1127del (p.Ile375fs)
|
rs771580014
|
|
|
NM_001206927.2(DNAH8):c.11256A>G (p.Lys3752=)
|
|
|
|
NM_001206927.2(DNAH8):c.11265C>A (p.Thr3755=)
|
rs1371432465
|
|
|
NM_001206927.2(DNAH8):c.11274+11_11274+13dup
|
rs1554138185
|
|
|
NM_001206927.2(DNAH8):c.11275-4G>A
|
rs757544802
|
|
|
NM_001206927.2(DNAH8):c.11286_11293del (p.Asp3763fs)
|
rs2533556336
|
|
|
NM_001206927.2(DNAH8):c.112A>G (p.Thr38Ala)
|
rs778551218
|
|
|
NM_001206927.2(DNAH8):c.11342C>A (p.Pro3781Gln)
|
|
|
|
NM_001206927.2(DNAH8):c.11364G>C (p.Glu3788Asp)
|
rs2150578050
|
|
|
NM_001206927.2(DNAH8):c.11443C>G (p.Leu3815Val)
|
|
|
|
NM_001206927.2(DNAH8):c.11457+5TC[6]
|
rs745611444
|
|
|
NM_001206927.2(DNAH8):c.11458-16T>G
|
rs1583400142
|
|
|
NM_001206927.2(DNAH8):c.11458-6T>A
|
rs2150585934
|
|
|
NM_001206927.2(DNAH8):c.11476G>T (p.Val3826Phe)
|
rs1782885997
|
|
|
NM_001206927.2(DNAH8):c.1148A>C (p.Glu383Ala)
|
|
|
|
NM_001206927.2(DNAH8):c.11509C>T (p.Arg3837Trp)
|
|
|
|
NM_001206927.2(DNAH8):c.11526T>A (p.Leu3842=)
|
rs2533584589
|
|
|
NM_001206927.2(DNAH8):c.11529A>G (p.Glu3843=)
|
rs2150586198
|
|
|
NM_001206927.2(DNAH8):c.11556T>C (p.Ala3852=)
|
rs2533584858
|
|
|
NM_001206927.2(DNAH8):c.11564-13T>C
|
|
|
|
NM_001206927.2(DNAH8):c.11572G>A (p.Val3858Ile)
|
rs1783104585
|
|
|
NM_001206927.2(DNAH8):c.1157A>G (p.Asp386Gly)
|
rs2534104348
|
|
|
NM_001206927.2(DNAH8):c.11586_11589del (p.Ile3864fs)
|
|
|
|
NM_001206927.2(DNAH8):c.11618C>T (p.Thr3873Ile)
|
rs768419092
|
|
|
NM_001206927.2(DNAH8):c.11645A>G (p.His3882Arg)
|
rs1459344355
|
|
|
NM_001206927.2(DNAH8):c.11698C>T (p.Pro3900Ser)
|
rs2150592662
|
|
|
NM_001206927.2(DNAH8):c.11700C>A (p.Pro3900=)
|
rs142515873
|
|
|
NM_001206927.2(DNAH8):c.11710C>T (p.Arg3904Cys)
|
rs1167415185
|
|
|
NM_001206927.2(DNAH8):c.11714del (p.Gly3905fs)
|
rs758035061
|
|
|
NM_001206927.2(DNAH8):c.11722C>T (p.Leu3908Phe)
|
|
|
|
NM_001206927.2(DNAH8):c.11726A>G (p.Tyr3909Cys)
|
rs373142030
|
|
|
NM_001206927.2(DNAH8):c.11729T>C (p.Phe3910Ser)
|
rs375158290
|
|
|
NM_001206927.2(DNAH8):c.11729T>G (p.Phe3910Cys)
|
rs375158290
|
|
|
NM_001206927.2(DNAH8):c.11747G>A (p.Ser3916Asn)
|
rs2150592878
|
|
|
NM_001206927.2(DNAH8):c.11765_11766dup (p.Gln3923fs)
|
|
|
|
NM_001206927.2(DNAH8):c.11769G>A (p.Gln3923=)
|
|
|
|
NM_001206927.2(DNAH8):c.11814C>A (p.Ala3938=)
|
rs776727337
|
|
|
NM_001206927.2(DNAH8):c.11819C>T (p.Ser3940Phe)
|
rs182335901
|
|
|
NM_001206927.2(DNAH8):c.1182A>T (p.Glu394Asp)
|
rs201355783
|
|
|
NM_001206927.2(DNAH8):c.11855A>G (p.Asn3952Ser)
|
rs762402382
|
|
|
NM_001206927.2(DNAH8):c.11880A>G (p.Glu3960=)
|
|
|
|
NM_001206927.2(DNAH8):c.11913A>T (p.Glu3971Asp)
|
rs149690655
|
|
|
NM_001206927.2(DNAH8):c.11915dup (p.Asn3972fs)
|
|
|
|
NM_001206927.2(DNAH8):c.11953A>G (p.Ile3985Val)
|
rs1305810294
|
|
|
NM_001206927.2(DNAH8):c.11958C>T (p.Asp3986=)
|
|
|
|
NM_001206927.2(DNAH8):c.11964G>A (p.Gln3988=)
|
|
|
|
NM_001206927.2(DNAH8):c.11979G>A (p.Lys3993=)
|
rs2150595534
|
|
|
NM_001206927.2(DNAH8):c.12000C>T (p.Leu4000=)
|
rs1045416247
|
|
|
NM_001206927.2(DNAH8):c.12007+14G>C
|
rs2533611464
|
|
|
NM_001206927.2(DNAH8):c.12008-13C>T
|
|
|
|
NM_001206927.2(DNAH8):c.12008-14A>T
|
|
|
|
NM_001206927.2(DNAH8):c.12011G>A (p.Gly4004Glu)
|
rs1472264977
|
|
|
NM_001206927.2(DNAH8):c.12019C>T (p.Leu4007=)
|
rs2533656850
|
|
|
NM_001206927.2(DNAH8):c.12040C>G (p.Pro4014Ala)
|
rs762008200
|
|
|
NM_001206927.2(DNAH8):c.12043A>G (p.Lys4015Glu)
|
rs2533657095
|
|
|
NM_001206927.2(DNAH8):c.1204A>G (p.Lys402Glu)
|
rs2534104800
|
|
|
NM_001206927.2(DNAH8):c.12053G>A (p.Arg4018His)
|
rs144156671
|
|
|
NM_001206927.2(DNAH8):c.12080A>C (p.Asn4027Thr)
|
|
|
|
NM_001206927.2(DNAH8):c.12100C>T (p.Leu4034Phe)
|
rs146505940
|
|
|
NM_001206927.2(DNAH8):c.12114A>T (p.Ala4038=)
|
rs749771031
|
|
|
NM_001206927.2(DNAH8):c.12129+13A>G
|
rs932186319
|
|
|
NM_001206927.2(DNAH8):c.12129G>A (p.Gln4043=)
|
|
|
|
NM_001206927.2(DNAH8):c.12130-13T>G
|
rs1344044208
|
|
|
NM_001206927.2(DNAH8):c.12130-3T>G
|
rs2533686527
|
|
|
NM_001206927.2(DNAH8):c.12130-7C>G
|
|
|
|
NM_001206927.2(DNAH8):c.12147G>A (p.Lys4049=)
|
rs1163341316
|
|
|
NM_001206927.2(DNAH8):c.12190A>T (p.Ile4064Phe)
|
rs1583435965
|
|
|
NM_001206927.2(DNAH8):c.12248+13A>T
|
rs185460426
|
|
|
NM_001206927.2(DNAH8):c.12249-10del
|
|
|
|
NM_001206927.2(DNAH8):c.12249-2A>T
|
rs2533701153
|
|
|
NM_001206927.2(DNAH8):c.12263A>G (p.Asp4088Gly)
|
rs2533701448
|
|
|
NM_001206927.2(DNAH8):c.12269C>T (p.Thr4090Ile)
|
rs1583440880
|
|
|
NM_001206927.2(DNAH8):c.12298G>C (p.Asp4100His)
|
rs1461288589
|
|
|
NM_001206927.2(DNAH8):c.12322G>C (p.Glu4108Gln)
|
|
|
|
NM_001206927.2(DNAH8):c.12345G>A (p.Glu4115=)
|
rs2533702419
|
|
|
NM_001206927.2(DNAH8):c.12377C>G (p.Pro4126Arg)
|
rs1273805892
|
|
|
NM_001206927.2(DNAH8):c.12393G>C (p.Leu4131=)
|
rs2150635620
|
|
|
NM_001206927.2(DNAH8):c.1241G>C (p.Ser414Thr)
|
rs1218388160
|
|
|
NM_001206927.2(DNAH8):c.12452-9A>G
|
rs749571123
|
|
|
NM_001206927.2(DNAH8):c.12486A>G (p.Glu4162=)
|
|
|
|
NM_001206927.2(DNAH8):c.12492T>G (p.His4164Gln)
|
rs1763359909
|
|
|
NM_001206927.2(DNAH8):c.12511A>T (p.Met4171Leu)
|
rs1366073824
|
|
|
NM_001206927.2(DNAH8):c.12525+10_12525+11del
|
|
|
|
NM_001206927.2(DNAH8):c.12525+3_12525+4delinsTA
|
rs2533838505
|
|
|
NM_001206927.2(DNAH8):c.12525+5G>A
|
|
|
|
NM_001206927.2(DNAH8):c.12526-20G>A
|
rs1408696427
|
|
|
NM_001206927.2(DNAH8):c.12537A>T (p.Val4179=)
|
rs2150694635
|
|
|
NM_001206927.2(DNAH8):c.12555C>T (p.His4185=)
|
|
|
|
NM_001206927.2(DNAH8):c.12558T>C (p.Leu4186=)
|
rs1763486142
|
|
|
NM_001206927.2(DNAH8):c.12562C>T (p.Leu4188=)
|
rs1583484448
|
|
|
NM_001206927.2(DNAH8):c.12618T>C (p.Asp4206=)
|
rs752937674
|
|
|
NM_001206927.2(DNAH8):c.12642G>A (p.Thr4214=)
|
|
|
|
NM_001206927.2(DNAH8):c.12664A>G (p.Ile4222Val)
|
|
|
|
NM_001206927.2(DNAH8):c.12669A>G (p.Thr4223=)
|
rs1763497890
|
|
|
NM_001206927.2(DNAH8):c.12671T>C (p.Leu4224Ser)
|
rs1297563537
|
|
|
NM_001206927.2(DNAH8):c.12678+15G>C
|
|
|
|
NM_001206927.2(DNAH8):c.12681C>T (p.Thr4227=)
|
rs1276203447
|
|
|
NM_001206927.2(DNAH8):c.12714T>G (p.Gly4238=)
|
rs1348349987
|
|
|
NM_001206927.2(DNAH8):c.12741T>C (p.Phe4247=)
|
|
|
|
NM_001206927.2(DNAH8):c.12751A>C (p.Asn4251His)
|
rs968299201
|
|
|
NM_001206927.2(DNAH8):c.12795G>C (p.Pro4265=)
|
rs188101498
|
|
|
NM_001206927.2(DNAH8):c.12800T>C (p.Leu4267Pro)
|
rs2150696793
|
|
|
NM_001206927.2(DNAH8):c.12838C>T (p.Arg4280Ter)
|
|
|
|
NM_001206927.2(DNAH8):c.12852C>T (p.Gly4284=)
|
rs2533906715
|
|
|
NM_001206927.2(DNAH8):c.12854C>G (p.Pro4285Arg)
|
rs1281474390
|
|
|
NM_001206927.2(DNAH8):c.12876C>A (p.Tyr4292Ter)
|
|
|
|
NM_001206927.2(DNAH8):c.12877G>A (p.Glu4293Lys)
|
|
|
|
NM_001206927.2(DNAH8):c.12884A>G (p.Asn4295Ser)
|
rs1583501877
|
|
|
NM_001206927.2(DNAH8):c.12897T>C (p.Phe4299=)
|
rs2150713871
|
|
|
NM_001206927.2(DNAH8):c.1293+14T>C
|
rs1227020243
|
|
|
NM_001206927.2(DNAH8):c.1293+8G>C
|
rs754002749
|
|
|
NM_001206927.2(DNAH8):c.12939C>A (p.Cys4313Ter)
|
rs751151452
|
|
|
NM_001206927.2(DNAH8):c.1294-6del
|
rs766073829
|
|
|
NM_001206927.2(DNAH8):c.12951+13A>G
|
rs1561940903
|
|
|
NM_001206927.2(DNAH8):c.12951+23dup
|
rs1196316242
|
|
|
NM_001206927.2(DNAH8):c.12952G>T (p.Gly4318Cys)
|
rs1427875858
|
|
|
NM_001206927.2(DNAH8):c.12954T>G (p.Gly4318=)
|
rs750166309
|
|
|
NM_001206927.2(DNAH8):c.12955G>T (p.Val4319Leu)
|
rs759963989
|
|
|
NM_001206927.2(DNAH8):c.12963G>A (p.Trp4321Ter)
|
rs2533918431
|
|
|
NM_001206927.2(DNAH8):c.12968C>A (p.Thr4323Lys)
|
rs1537232
|
|
|
NM_001206927.2(DNAH8):c.13054-2A>G
|
|
|
|
NM_001206927.2(DNAH8):c.13067AGA[1] (p.Lys4357del)
|
rs763606080
|
|
|
NM_001206927.2(DNAH8):c.13069A>G (p.Lys4357Glu)
|
rs139250593
|
|
|
NM_001206927.2(DNAH8):c.13176C>A (p.Asn4392Lys)
|
rs2533955416
|
|
|
NM_001206927.2(DNAH8):c.13197C>T (p.His4399=)
|
|
|
|
NM_001206927.2(DNAH8):c.13215-12T>C
|
|
|
|
NM_001206927.2(DNAH8):c.13215-4C>T
|
rs373756546
|
|
|
NM_001206927.2(DNAH8):c.13228A>G (p.Thr4410Ala)
|
rs1380705924
|
|
|
NM_001206927.2(DNAH8):c.1322C>G (p.Thr441Ser)
|
rs2127595057
|
|
|
NM_001206927.2(DNAH8):c.13287T>C (p.Gly4429=)
|
rs376720662
|
|
|
NM_001206927.2(DNAH8):c.13288G>A (p.Val4430Met)
|
rs1765985930
|
|
|
NM_001206927.2(DNAH8):c.13302G>A (p.Arg4434=)
|
rs2534060172
|
|
|
NM_001206927.2(DNAH8):c.13303G>T (p.Glu4435Ter)
|
|
|
|
NM_001206927.2(DNAH8):c.13333A>G (p.Met4445Val)
|
rs1459751204
|
|
|
NM_001206927.2(DNAH8):c.13352C>T (p.Pro4451Leu)
|
rs1173362541
|
|
|
NM_001206927.2(DNAH8):c.13371+10G>C
|
rs766324900
|
|
|
NM_001206927.2(DNAH8):c.13371+4A>G
|
rs1765994363
|
|
|
NM_001206927.2(DNAH8):c.13372-4T>G
|
|
|
|
NM_001206927.2(DNAH8):c.13372-5T>C
|
rs2534078485
|
|
|
NM_001206927.2(DNAH8):c.13378T>A (p.Ser4460Thr)
|
rs1488366198
|
|
|
NM_001206927.2(DNAH8):c.13394del (p.Met4465fs)
|
rs2534078747
|
|
|
NM_001206927.2(DNAH8):c.13431A>G (p.Gln4477=)
|
rs1766263823
|
|
|
NM_001206927.2(DNAH8):c.13444A>C (p.Met4482Leu)
|
rs1241609542
|
|
|
NM_001206927.2(DNAH8):c.13462A>C (p.Ile4488Leu)
|
rs10484847
|
|
|
NM_001206927.2(DNAH8):c.13469G>A (p.Arg4490His)
|
rs202160082
|
|
|
NM_001206927.2(DNAH8):c.13524+19A>G
|
rs113624987
|
|
|
NM_001206927.2(DNAH8):c.13568C>T (p.Pro4523Leu)
|
rs774127036
|
|
|
NM_001206927.2(DNAH8):c.13587G>A (p.Val4529=)
|
rs1007135823
|
|
|
NM_001206927.2(DNAH8):c.13608G>A (p.Leu4536=)
|
rs1766286962
|
|
|
NM_001206927.2(DNAH8):c.13622C>A (p.Thr4541Asn)
|
rs2534081344
|
|
|
NM_001206927.2(DNAH8):c.13683G>T (p.Val4561=)
|
rs201274048
|
|
|
NM_001206927.2(DNAH8):c.1368T>C (p.Thr456=)
|
rs2534155550
|
|
|
NM_001206927.2(DNAH8):c.13714+4T>C
|
rs2150773744
|
|
|
NM_001206927.2(DNAH8):c.13715-15_13715-13del
|
|
|
|
NM_001206927.2(DNAH8):c.13715-2dup
|
rs754811596
|
|
|
NM_001206927.2(DNAH8):c.13715-3A>G
|
rs1338748999
|
|
|
NM_001206927.2(DNAH8):c.13715-8del
|
rs748982645
|
|
|
NM_001206927.2(DNAH8):c.13722C>T (p.Leu4574=)
|
rs45600141
|
|
|
NM_001206927.2(DNAH8):c.13740A>G (p.Glu4580=)
|
|
|
|
NM_001206927.2(DNAH8):c.13748G>T (p.Arg4583Leu)
|
rs139227429
|
|
|
NM_001206927.2(DNAH8):c.13753C>T (p.His4585Tyr)
|
rs2534150327
|
|
|
NM_001206927.2(DNAH8):c.13766C>T (p.Ala4589Val)
|
rs2150800992
|
|
|
NM_001206927.2(DNAH8):c.13773C>T (p.Asp4591=)
|
rs943095717
|
|
|
NM_001206927.2(DNAH8):c.13792G>A (p.Glu4598Lys)
|
rs1554166182
|
|
|
NM_001206927.2(DNAH8):c.137_160del (p.Gly46_Asp53del)
|
rs774952820
|
|
|
NM_001206927.2(DNAH8):c.137_160dup (p.Gly46_Asp53dup)
|
rs774952820
|
|
|
NM_001206927.2(DNAH8):c.13824G>A (p.Thr4608=)
|
rs776969419
|
|
|
NM_001206927.2(DNAH8):c.13827A>C (p.Ser4609=)
|
rs1302523856
|
|
|
NM_001206927.2(DNAH8):c.13837-12T>G
|
rs2534167724
|
|
|
NM_001206927.2(DNAH8):c.13838A>T (p.Glu4613Val)
|
rs375455553
|
|
|
NM_001206927.2(DNAH8):c.13841G>A (p.Gly4614Asp)
|
rs1307894494
|
|
|
NM_001206927.2(DNAH8):c.1386A>G (p.Gln462=)
|
|
|
|
NM_001206927.2(DNAH8):c.13872A>G (p.Gly4624=)
|
|
|
|
NM_001206927.2(DNAH8):c.13896G>A (p.Gly4632=)
|
rs143487714
|
|
|
NM_001206927.2(DNAH8):c.13896G>C (p.Gly4632=)
|
rs143487714
|
|
|
NM_001206927.2(DNAH8):c.1392C>T (p.Leu464=)
|
rs2127595134
|
|
|
NM_001206927.2(DNAH8):c.13941C>T (p.Pro4647=)
|
rs151211156
|
|
|
NM_001206927.2(DNAH8):c.13944_13945insAAGTTA (p.Val4648_Leu4649insLysLeu)
|
rs1561993508
|
|
|
NM_001206927.2(DNAH8):c.13966T>G (p.Ser4656Ala)
|
rs2534168857
|
|
|
NM_001206927.2(DNAH8):c.13992G>A (p.Leu4664=)
|
|
|
|
NM_001206927.2(DNAH8):c.14017C>G (p.Pro4673Ala)
|
rs144993102
|
|
|
NM_001206927.2(DNAH8):c.14023C>A (p.Arg4675=)
|
|
|
|
NM_001206927.2(DNAH8):c.14023C>G (p.Arg4675Gly)
|
rs369355205
|
|
|
NM_001206927.2(DNAH8):c.14024G>A (p.Arg4675Gln)
|
|
|
|
NM_001206927.2(DNAH8):c.1402G>A (p.Asp468Asn)
|
rs1020386285
|
|
|
NM_001206927.2(DNAH8):c.14060G>C (p.Arg4687Pro)
|
rs907018999
|
|
|
NM_001206927.2(DNAH8):c.1407+13T>C
|
|
|
|
NM_001206927.2(DNAH8):c.1407+3A>G
|
rs1204749351
|
|
|
NM_001206927.2(DNAH8):c.1407+7A>G
|
|
|
|
NM_001206927.2(DNAH8):c.1460A>C (p.His487Pro)
|
rs2127600635
|
|
|
NM_001206927.2(DNAH8):c.1478A>C (p.Tyr493Ser)
|
rs780528860
|
|
|
NM_001206927.2(DNAH8):c.1505T>G (p.Leu502Trp)
|
|
|
|
NM_001206927.2(DNAH8):c.150C>T (p.Ser50=)
|
rs767762211
|
|
|
NM_001206927.2(DNAH8):c.1515+3A>G
|
rs1765881145
|
|
|
NM_001206927.2(DNAH8):c.1516-14T>C
|
|
|
|
NM_001206927.2(DNAH8):c.1516-15C>A
|
rs1472053421
|
|
|
NM_001206927.2(DNAH8):c.1516-15C>G
|
rs1472053421
|
|
|
NM_001206927.2(DNAH8):c.1516-15del
|
|
|
|
NM_001206927.2(DNAH8):c.1516-20T>A
|
rs2448401
|
|
|
NM_001206927.2(DNAH8):c.1516-2A>C
|
rs200115379
|
|
|
NM_001206927.2(DNAH8):c.155A>G (p.Glu52Gly)
|
rs750174047
|
|
|
NM_001206927.2(DNAH8):c.156A>G (p.Glu52=)
|
rs2533983422
|
|
|
NM_001206927.2(DNAH8):c.1592C>T (p.Thr531Met)
|
rs376907315
|
|
|
NM_001206927.2(DNAH8):c.1618-13_1618-8del
|
rs759643626
|
|
|
NM_001206927.2(DNAH8):c.1636A>G (p.Lys546Glu)
|
rs1056745711
|
|
|
NM_001206927.2(DNAH8):c.1648G>A (p.Ala550Thr)
|
rs748375168
|
|
|
NM_001206927.2(DNAH8):c.1669A>C (p.Lys557Gln)
|
|
|
|
NM_001206927.2(DNAH8):c.1677T>C (p.Ile559=)
|
rs201711281
|
|
|
NM_001206927.2(DNAH8):c.1703_1704del (p.Ser567_Phe568insTer)
|
|
|
|
NM_001206927.2(DNAH8):c.1715A>G (p.Glu572Gly)
|
rs2127621449
|
|
|
NM_001206927.2(DNAH8):c.1734A>T (p.Lys578Asn)
|
rs1271183567
|
|
|
NM_001206927.2(DNAH8):c.1743T>C (p.Ala581=)
|
rs750817153
|
|
|
NM_001206927.2(DNAH8):c.1743T>G (p.Ala581=)
|
rs750817153
|
|
|
NM_001206927.2(DNAH8):c.1764+12G>A
|
rs772211859
|
|
|
NM_001206927.2(DNAH8):c.1765-11C>G
|
rs755441128
|
|
|
NM_001206927.2(DNAH8):c.1765-15A>T
|
|
|
|
NM_001206927.2(DNAH8):c.1765-9C>G
|
rs1767999643
|
|
|
NM_001206927.2(DNAH8):c.1765-9C>T
|
|
|
|
NM_001206927.2(DNAH8):c.1794A>G (p.Thr598=)
|
rs2532310664
|
|
|
NM_001206927.2(DNAH8):c.1806G>T (p.Leu602Phe)
|
|
|
|
NM_001206927.2(DNAH8):c.1835T>A (p.Ile612Asn)
|
rs1768007169
|
|
|
NM_001206927.2(DNAH8):c.1856dup (p.Asn619fs)
|
rs752991804
|
|
|
NM_001206927.2(DNAH8):c.1902AAG[1] (p.Arg636del)
|
rs758494861
|
|
|
NM_001206927.2(DNAH8):c.1946_1948dup (p.Lys649dup)
|
rs2127630927
|
|
|
NM_001206927.2(DNAH8):c.1963G>A (p.Val655Ile)
|
rs1238108829
|
|
|
NM_001206927.2(DNAH8):c.1975G>A (p.Ala659Thr)
|
rs61748601
|
|
|
NM_001206927.2(DNAH8):c.1992T>C (p.Ser664=)
|
rs2532327824
|
|
|
NM_001206927.2(DNAH8):c.2007_2011del (p.Leu669fs)
|
|
|
|
NM_001206927.2(DNAH8):c.2040-18A>G
|
rs2532337765
|
|
|
NM_001206927.2(DNAH8):c.2059C>T (p.Pro687Ser)
|
rs774984318
|
|
|
NM_001206927.2(DNAH8):c.2084del (p.His695fs)
|
rs2127637299
|
|
|
NM_001206927.2(DNAH8):c.2139+14T>G
|
|
|
|
NM_001206927.2(DNAH8):c.2140-20C>G
|
rs2532348047
|
|
|
NM_001206927.2(DNAH8):c.2185C>T (p.Pro729Ser)
|
rs866179461
|
|
|
NM_001206927.2(DNAH8):c.2189C>G (p.Pro730Arg)
|
|
|
|
NM_001206927.2(DNAH8):c.2203A>G (p.Ile735Val)
|
rs2127639812
|
|
|
NM_001206927.2(DNAH8):c.2215A>G (p.Arg739Gly)
|
rs1193834845
|
|
|
NM_001206927.2(DNAH8):c.2259+21del
|
rs2532350073
|
|
|
NM_001206927.2(DNAH8):c.2260-11T>A
|
|
|
|
NM_001206927.2(DNAH8):c.2260-8A>C
|
rs773318509
|
|
|
NM_001206927.2(DNAH8):c.2297C>G (p.Ala766Gly)
|
rs1768796280
|
|
|
NM_001206927.2(DNAH8):c.229C>A (p.His77Asn)
|
rs1357378794
|
|
|
NM_001206927.2(DNAH8):c.229C>T (p.His77Tyr)
|
rs1357378794
|
|
|
NM_001206927.2(DNAH8):c.2362G>T (p.Ala788Ser)
|
rs756762480
|
|
|
NM_001206927.2(DNAH8):c.2364C>T (p.Ala788=)
|
rs2532362487
|
|
|
NM_001206927.2(DNAH8):c.236C>T (p.Ala79Val)
|
rs1185247828
|
|
|
NM_001206927.2(DNAH8):c.2383C>T (p.Gln795Ter)
|
|
|
|
NM_001206927.2(DNAH8):c.2395+1dup
|
rs1768809177
|
|
|
NM_001206927.2(DNAH8):c.2395G>A (p.Ala799Thr)
|
rs767930161
|
|
|
NM_001206927.2(DNAH8):c.2396-15A>G
|
|
|
|
NM_001206927.2(DNAH8):c.2400dup (p.Gln801fs)
|
rs765139051
|
|
|
NM_001206927.2(DNAH8):c.2487T>C (p.Thr829=)
|
rs2127649096
|
|
|
NM_001206927.2(DNAH8):c.2489_2490del (p.Lys830fs)
|
rs1562782355
|
|
|
NM_001206927.2(DNAH8):c.24C>A (p.Gly8=)
|
rs754363459
|
|
|
NM_001206927.2(DNAH8):c.2565A>G (p.Ala855=)
|
rs2127649289
|
|
|
NM_001206927.2(DNAH8):c.2583+6A>G
|
rs1769216498
|
|
|
NM_001206927.2(DNAH8):c.2584-20G>A
|
rs2532408407
|
|
|
NM_001206927.2(DNAH8):c.2623C>T (p.Pro875Ser)
|
|
|
|
NM_001206927.2(DNAH8):c.2664+7A>T
|
rs1321780574
|
|
|
NM_001206927.2(DNAH8):c.2665-1G>C
|
|
|
|
NM_001206927.2(DNAH8):c.2665-9C>T
|
rs184426914
|
|
|
NM_001206927.2(DNAH8):c.2671T>A (p.Ser891Thr)
|
rs1769598046
|
|
|
NM_001206927.2(DNAH8):c.2685A>G (p.Gln895=)
|
rs878854273
|
|
|
NM_001206927.2(DNAH8):c.2685del (p.Gly896fs)
|
rs1250753880
|
|
|
NM_001206927.2(DNAH8):c.2699T>A (p.Leu900Ter)
|
rs1769605097
|
|
|
NM_001206927.2(DNAH8):c.270G>A (p.Pro90=)
|
rs180723141
|
|
|
NM_001206927.2(DNAH8):c.273A>T (p.Arg91=)
|
|
|
|
NM_001206927.2(DNAH8):c.2763C>T (p.Phe921=)
|
rs2532414738
|
|
|
NM_001206927.2(DNAH8):c.2765A>G (p.Asn922Ser)
|
rs2532414753
|
|
|
NM_001206927.2(DNAH8):c.276G>A (p.Pro92=)
|
|
|
|
NM_001206927.2(DNAH8):c.276G>T (p.Pro92=)
|
rs185117089
|
|
|
NM_001206927.2(DNAH8):c.2781+8C>G
|
rs2532414893
|
|
|
NM_001206927.2(DNAH8):c.2781+9T>C
|
rs757916676
|
|
|
NM_001206927.2(DNAH8):c.2818C>G (p.Leu940Val)
|
rs200401493
|
|
|
NM_001206927.2(DNAH8):c.2822A>G (p.Lys941Arg)
|
|
|
|
NM_001206927.2(DNAH8):c.2851C>T (p.Leu951=)
|
rs1554211685
|
|
|
NM_001206927.2(DNAH8):c.285A>G (p.Ser95=)
|
rs780218121
|
|
|
NM_001206927.2(DNAH8):c.2885T>C (p.Met962Thr)
|
rs1251689327
|
|
|
NM_001206927.2(DNAH8):c.2892C>A (p.Thr964=)
|
rs2532424477
|
|
|
NM_001206927.2(DNAH8):c.2901+1G>A
|
rs1769760726
|
|
|
NM_001206927.2(DNAH8):c.2945A>G (p.Lys982Arg)
|
rs2150296679
|
|
|
NM_001206927.2(DNAH8):c.2956G>C (p.Glu986Gln)
|
rs2532500706
|
|
|
NM_001206927.2(DNAH8):c.2996A>T (p.Tyr999Phe)
|
rs944837198
|
|
|
NM_001206927.2(DNAH8):c.2999A>T (p.Glu1000Val)
|
rs1770947275
|
|
|
NM_001206927.2(DNAH8):c.3005A>G (p.Lys1002Arg)
|
|
|
|
NM_001206927.2(DNAH8):c.300G>T (p.Val100=)
|
|
|
|
NM_001206927.2(DNAH8):c.3030G>A (p.Gln1010=)
|
|
|
|
NM_001206927.2(DNAH8):c.3031_3034del (p.Ser1011fs)
|
rs781128315
|
|
|
NM_001206927.2(DNAH8):c.3031_3034dup (p.Glu1012fs)
|
rs781128315
|
|
|
NM_001206927.2(DNAH8):c.3034+12C>T
|
|
|
|
NM_001206927.2(DNAH8):c.3034+13G>A
|
|
|
|
NM_001206927.2(DNAH8):c.3034+16A>C
|
rs2150297015
|
|
|
NM_001206927.2(DNAH8):c.3034+16A>G
|
|
|
|
NM_001206927.2(DNAH8):c.3083A>G (p.Asn1028Ser)
|
|
|
|
NM_001206927.2(DNAH8):c.3093T>G (p.Tyr1031Ter)
|
rs1488305206
|
|
|
NM_001206927.2(DNAH8):c.310C>T (p.Pro104Ser)
|
rs2533985243
|
|
|
NM_001206927.2(DNAH8):c.3117T>C (p.Phe1039=)
|
rs2532519556
|
|
|
NM_001206927.2(DNAH8):c.312G>C (p.Pro104=)
|
|
|
|
NM_001206927.2(DNAH8):c.3139G>T (p.Glu1047Ter)
|
rs2532519909
|
|
|
NM_001206927.2(DNAH8):c.3150+15A>C
|
rs1320250141
|
|
|
NM_001206927.2(DNAH8):c.3150+15A>G
|
rs1320250141
|
|
|
NM_001206927.2(DNAH8):c.3150+1G>A
|
rs753024616
|
|
|
NM_001206927.2(DNAH8):c.3155G>T (p.Cys1052Phe)
|
rs373886534
|
|
|
NM_001206927.2(DNAH8):c.3184C>T (p.Gln1062Ter)
|
rs1771404948
|
|
|
NM_001206927.2(DNAH8):c.3189A>G (p.Leu1063=)
|
rs1193308103
|
|
|
NM_001206927.2(DNAH8):c.3190C>G (p.Leu1064Val)
|
rs2532534669
|
|
|
NM_001206927.2(DNAH8):c.3192A>G (p.Leu1064=)
|
rs781190022
|
|
|
NM_001206927.2(DNAH8):c.319C>G (p.Arg107Gly)
|
rs2127565118
|
|
|
NM_001206927.2(DNAH8):c.3215G>A (p.Arg1072Gln)
|
rs201654193
|
|
|
NM_001206927.2(DNAH8):c.3215G>T (p.Arg1072Leu)
|
rs201654193
|
|
|
NM_001206927.2(DNAH8):c.3216G>A (p.Arg1072=)
|
|
|
|
NM_001206927.2(DNAH8):c.321dup (p.Arg108fs)
|
rs2533985399
|
|
|
NM_001206927.2(DNAH8):c.3232A>G (p.Met1078Val)
|
rs1426079117
|
|
|
NM_001206927.2(DNAH8):c.3246dup (p.Phe1083fs)
|
|
|
|
NM_001206927.2(DNAH8):c.3257+12A>G
|
rs1246292892
|
|
|
NM_001206927.2(DNAH8):c.3257+13T>C
|
|
|
|
NM_001206927.2(DNAH8):c.326C>T (p.Ser109Phe)
|
rs1212995937
|
|
|
NM_001206927.2(DNAH8):c.3294C>A (p.Ser1098=)
|
rs1678690
|
|
|
NM_001206927.2(DNAH8):c.3294C>G (p.Ser1098=)
|
rs1678690
|
|
|
NM_001206927.2(DNAH8):c.3327T>G (p.Pro1109=)
|
rs2532576608
|
|
|
NM_001206927.2(DNAH8):c.3333+10A>G
|
rs1772039551
|
|
|
NM_001206927.2(DNAH8):c.3333+17A>G
|
rs2532576806
|
|
|
NM_001206927.2(DNAH8):c.3333+18C>A
|
rs768718204
|
|
|
NM_001206927.2(DNAH8):c.3333+1G>A
|
rs756616538
|
|
|
NM_001206927.2(DNAH8):c.3344C>T (p.Pro1115Leu)
|
rs754333679
|
|
|
NM_001206927.2(DNAH8):c.3363A>G (p.Gln1121=)
|
|
|
|
NM_001206927.2(DNAH8):c.3375C>T (p.Asn1125=)
|
rs1281084129
|
|
|
NM_001206927.2(DNAH8):c.339C>G (p.Arg113=)
|
rs2533985711
|
|
|
NM_001206927.2(DNAH8):c.339C>T (p.Arg113=)
|
rs2533985711
|
|
|
NM_001206927.2(DNAH8):c.340C>T (p.Arg114Trp)
|
rs542057474
|
|
|
NM_001206927.2(DNAH8):c.342G>C (p.Arg114=)
|
|
|
|
NM_001206927.2(DNAH8):c.3483_3489del (p.Thr1162fs)
|
rs766707325
|
|
|
NM_001206927.2(DNAH8):c.3511A>T (p.Lys1171Ter)
|
rs1772190647
|
|
|
NM_001206927.2(DNAH8):c.3548C>T (p.Ala1183Val)
|
rs760404927
|
|
|
NM_001206927.2(DNAH8):c.3572dup (p.Val1193fs)
|
|
|
|
NM_001206927.2(DNAH8):c.3575G>A (p.Gly1192Glu)
|
|
|
|
NM_001206927.2(DNAH8):c.3601A>G (p.Lys1201Glu)
|
rs1772998152
|
|
|
NM_001206927.2(DNAH8):c.3615C>G (p.Leu1205=)
|
|
|
|
NM_001206927.2(DNAH8):c.3616C>T (p.Leu1206Phe)
|
rs2532635949
|
|
|
NM_001206927.2(DNAH8):c.3625T>C (p.Ser1209Pro)
|
rs2532636016
|
|
|
NM_001206927.2(DNAH8):c.3686C>G (p.Thr1229Ser)
|
rs138719382
|
|
|
NM_001206927.2(DNAH8):c.3689T>C (p.Leu1230Pro)
|
rs2532636751
|
|
|
NM_001206927.2(DNAH8):c.3706G>A (p.Asp1236Asn)
|
rs201420305
|
|
|
NM_001206927.2(DNAH8):c.3713A>T (p.Lys1238Ile)
|
|
|
|
NM_001206927.2(DNAH8):c.3721-19G>T
|
rs373163028
|
|
|
NM_001206927.2(DNAH8):c.3773A>G (p.His1258Arg)
|
rs1773065752
|
|
|
NM_001206927.2(DNAH8):c.3776A>G (p.Tyr1259Cys)
|
|
|
|
NM_001206927.2(DNAH8):c.3787G>T (p.Glu1263Ter)
|
rs1416631904
|
|
|
NM_001206927.2(DNAH8):c.3825A>C (p.Val1275=)
|
|
|
|
NM_001206927.2(DNAH8):c.3847+17T>C
|
rs1773074751
|
|
|
NM_001206927.2(DNAH8):c.3848-3C>G
|
rs1053217536
|
|
|
NM_001206927.2(DNAH8):c.3849G>A (p.Glu1283=)
|
rs878854274
|
|
|
NM_001206927.2(DNAH8):c.3852G>A (p.Pro1284=)
|
rs1201989372
|
|
|
NM_001206927.2(DNAH8):c.390+14dup
|
|
|
|
NM_001206927.2(DNAH8):c.390+5G>C
|
rs2533986372
|
|
|
NM_001206927.2(DNAH8):c.3904C>T (p.Arg1302Ter)
|
|
|
|
NM_001206927.2(DNAH8):c.3906A>G (p.Arg1302=)
|
rs2532663665
|
|
|
NM_001206927.2(DNAH8):c.3960T>C (p.Asn1320=)
|
rs1773308890
|
|
|
NM_001206927.2(DNAH8):c.4004A>G (p.Asp1335Gly)
|
|
|
|
NM_001206927.2(DNAH8):c.4008C>A (p.Val1336=)
|
rs138189560
|
|
|
NM_001206927.2(DNAH8):c.4036A>G (p.Ile1346Val)
|
rs1184830557
|
|
|
NM_001206927.2(DNAH8):c.4083+14G>C
|
rs1019215581
|
|
|
NM_001206927.2(DNAH8):c.4083+24_4083+25dup
|
rs34231573
|
|
|
NM_001206927.2(DNAH8):c.4083+25del
|
rs34231573
|
|
|
NM_001206927.2(DNAH8):c.4083+25dup
|
rs34231573
|
|
|
NM_001206927.2(DNAH8):c.4096A>G (p.Ile1366Val)
|
rs2532681222
|
|
|
NM_001206927.2(DNAH8):c.4188+2T>A
|
rs2532682220
|
|
|
NM_001206927.2(DNAH8):c.4189-12T>C
|
rs2532715112
|
|
|
NM_001206927.2(DNAH8):c.4189-3T>C
|
rs2532715199
|
|
|
NM_001206927.2(DNAH8):c.4235G>A (p.Ser1412Asn)
|
rs1204156273
|
|
|
NM_001206927.2(DNAH8):c.4244T>C (p.Leu1415Pro)
|
rs1367556893
|
|
|
NM_001206927.2(DNAH8):c.4278A>C (p.Ile1426=)
|
|
|
|
NM_001206927.2(DNAH8):c.42A>C (p.Ala14=)
|
rs933123302
|
|
|
NM_001206927.2(DNAH8):c.4302+12A>G
|
|
|
|
NM_001206927.2(DNAH8):c.4302+17C>G
|
rs780013093
|
|
|
NM_001206927.2(DNAH8):c.4344C>T (p.Ser1448=)
|
|
|
|
NM_001206927.2(DNAH8):c.4345A>C (p.Asn1449His)
|
rs2532735572
|
|
|
NM_001206927.2(DNAH8):c.4353A>C (p.Leu1451=)
|
rs2532735666
|
|
|
NM_001206927.2(DNAH8):c.4354C>A (p.Gln1452Lys)
|
rs1774128346
|
|
|
NM_001206927.2(DNAH8):c.4365+15T>C
|
rs2532736094
|
|
|
NM_001206927.2(DNAH8):c.4365+19del
|
rs754363733
|
|
|
NM_001206927.2(DNAH8):c.4366-9T>C
|
rs2532764223
|
|
|
NM_001206927.2(DNAH8):c.4375G>T (p.Asp1459Tyr)
|
rs151175737
|
|
|
NM_001206927.2(DNAH8):c.4399A>G (p.Thr1467Ala)
|
rs2150363702
|
|
|
NM_001206927.2(DNAH8):c.4467-15T>C
|
rs2532801186
|
|
|
NM_001206927.2(DNAH8):c.4467-2A>G
|
|
|
|
NM_001206927.2(DNAH8):c.4543A>G (p.Ile1515Val)
|
rs1554226304
|
|
|
NM_001206927.2(DNAH8):c.4610G>T (p.Arg1537Leu)
|
rs375507271
|
|
|
NM_001206927.2(DNAH8):c.4641A>C (p.Gln1547His)
|
rs1294833717
|
|
|
NM_001206927.2(DNAH8):c.4695A>C (p.Leu1565=)
|
rs773210459
|
|
|
NM_001206927.2(DNAH8):c.4700A>C (p.Glu1567Ala)
|
rs1774924293
|
|
|
NM_001206927.2(DNAH8):c.4748C>G (p.Ser1583Cys)
|
rs2532807778
|
|
|
NM_001206927.2(DNAH8):c.4782T>C (p.Ser1594=)
|
rs1341087912
|
|
|
NM_001206927.2(DNAH8):c.4835A>G (p.Asp1612Gly)
|
rs375356688
|
|
|
NM_001206927.2(DNAH8):c.4842T>G (p.Ile1614Met)
|
rs2532809388
|
|
|
NM_001206927.2(DNAH8):c.4846-9C>A
|
|
|
|
NM_001206927.2(DNAH8):c.4847A>G (p.Asp1616Gly)
|
rs943252271
|
|
|
NM_001206927.2(DNAH8):c.4847A>T (p.Asp1616Val)
|
rs943252271
|
|
|
NM_001206927.2(DNAH8):c.4854C>T (p.Cys1618=)
|
|
|
|
NM_001206927.2(DNAH8):c.4887C>A (p.Ala1629=)
|
|
|
|
NM_001206927.2(DNAH8):c.4906G>T (p.Glu1636Ter)
|
rs1775234077
|
|
|
NM_001206927.2(DNAH8):c.4916C>T (p.Thr1639Ile)
|
rs1209612162
|
|
|
NM_001206927.2(DNAH8):c.4968C>G (p.Leu1656=)
|
|
|
|
NM_001206927.2(DNAH8):c.497T>A (p.Val166Asp)
|
rs374691452
|
|
|
NM_001206927.2(DNAH8):c.5045+12dup
|
rs2532836749
|
|
|
NM_001206927.2(DNAH8):c.5045+3A>G
|
rs2532836500
|
|
|
NM_001206927.2(DNAH8):c.5055T>C (p.Ala1685=)
|
rs2532861114
|
|
|
NM_001206927.2(DNAH8):c.5058A>C (p.Pro1686=)
|
|
|
|
NM_001206927.2(DNAH8):c.5069del (p.Asn1690fs)
|
|
|
|
NM_001206927.2(DNAH8):c.5076G>T (p.Gln1692His)
|
|
|
|
NM_001206927.2(DNAH8):c.5140C>G (p.Leu1714Val)
|
rs1060501470
|
|
|
NM_001206927.2(DNAH8):c.517T>C (p.Cys173Arg)
|
rs2533988786
|
|
|
NM_001206927.2(DNAH8):c.5199+12T>C
|
rs1775511430
|
|
|
NM_001206927.2(DNAH8):c.5200-10G>A
|
|
|
|
NM_001206927.2(DNAH8):c.5237T>A (p.Ile1746Lys)
|
rs762401941
|
|
|
NM_001206927.2(DNAH8):c.525+12T>G
|
rs529942973
|
|
|
NM_001206927.2(DNAH8):c.5271T>C (p.Asn1757=)
|
rs1046916547
|
|
|
NM_001206927.2(DNAH8):c.5298A>G (p.Glu1766=)
|
rs2532877820
|
|
|
NM_001206927.2(DNAH8):c.5301C>G (p.Thr1767=)
|
rs2532877861
|
|
|
NM_001206927.2(DNAH8):c.5363+1G>A
|
|
|
|
NM_001206927.2(DNAH8):c.5364-4G>A
|
|
|
|
NM_001206927.2(DNAH8):c.5381G>A (p.Arg1794Gln)
|
rs746134358
|
|
|
NM_001206927.2(DNAH8):c.5409A>G (p.Val1803=)
|
rs1775752647
|
|
|
NM_001206927.2(DNAH8):c.5410T>A (p.Ser1804Thr)
|
rs1775753073
|
|
|
NM_001206927.2(DNAH8):c.5442A>G (p.Gln1814=)
|
rs1345770391
|
|
|
NM_001206927.2(DNAH8):c.5446A>G (p.Ser1816Gly)
|
rs2150389160
|
|
|
NM_001206927.2(DNAH8):c.5457C>T (p.His1819=)
|
rs2532892934
|
|
|
NM_001206927.2(DNAH8):c.5466+12G>A
|
|
|
|
NM_001206927.2(DNAH8):c.5466+7del
|
|
|
|
NM_001206927.2(DNAH8):c.5466+9T>C
|
|
|
|
NM_001206927.2(DNAH8):c.5467-13C>A
|
rs771954579
|
|
|
NM_001206927.2(DNAH8):c.5467-15del
|
|
|
|
NM_001206927.2(DNAH8):c.5468C>A (p.Pro1823Gln)
|
rs201197291
|
|
|
NM_001206927.2(DNAH8):c.5469G>A (p.Pro1823=)
|
rs61757626
|
|
|
NM_001206927.2(DNAH8):c.5481A>C (p.Ala1827=)
|
|
|
|
NM_001206927.2(DNAH8):c.549dup (p.Ala184fs)
|
rs1032638497
|
|
|
NM_001206927.2(DNAH8):c.5515G>A (p.Ala1839Thr)
|
rs756190655
|
|
|
NM_001206927.2(DNAH8):c.5544C>T (p.Val1848=)
|
rs1775861079
|
|
|
NM_001206927.2(DNAH8):c.5550A>G (p.Ser1850=)
|
rs1554229084
|
|
|
NM_001206927.2(DNAH8):c.5559A>G (p.Gly1853=)
|
|
|
|
NM_001206927.2(DNAH8):c.5561A>G (p.Glu1854Gly)
|
rs1775863611
|
|
|
NM_001206927.2(DNAH8):c.5571+10C>T
|
|
|
|
NM_001206927.2(DNAH8):c.5571+15T>G
|
rs2150391602
|
|
|
NM_001206927.2(DNAH8):c.5571+20A>G
|
|
|
|
NM_001206927.2(DNAH8):c.5571_5571+2del
|
rs777057945
|
|
|
NM_001206927.2(DNAH8):c.5572-19_5572-18delinsTA
|
rs2532910461
|
|
|
NM_001206927.2(DNAH8):c.5635C>T (p.Gln1879Ter)
|
rs1297488496
|
|
|
NM_001206927.2(DNAH8):c.5643A>G (p.Ser1881=)
|
rs548987637
|
|
|
NM_001206927.2(DNAH8):c.5702T>C (p.Leu1901Pro)
|
rs2150392730
|
|
|
NM_001206927.2(DNAH8):c.5707C>G (p.Pro1903Ala)
|
rs759612322
|
|
|
NM_001206927.2(DNAH8):c.5712C>T (p.Phe1904=)
|
|
|
|
NM_001206927.2(DNAH8):c.5733+14A>G
|
|
|
|
NM_001206927.2(DNAH8):c.5734-10G>A
|
rs2532948417
|
|
|
NM_001206927.2(DNAH8):c.5740C>T (p.Leu1914Phe)
|
rs1467448925
|
|
|
NM_001206927.2(DNAH8):c.5760G>A (p.Leu1920=)
|
rs2532948862
|
|
|
NM_001206927.2(DNAH8):c.5762G>A (p.Trp1921Ter)
|
rs2150400998
|
|
|
NM_001206927.2(DNAH8):c.5768_5769delinsTT (p.His1923Leu)
|
rs2532948966
|
|
|
NM_001206927.2(DNAH8):c.5769C>A (p.His1923Gln)
|
rs2061907
|
|
|
NM_001206927.2(DNAH8):c.5770G>A (p.Asp1924Asn)
|
rs267601015
|
|
|
NM_001206927.2(DNAH8):c.5796A>G (p.Ala1932=)
|
|
|
|
NM_001206927.2(DNAH8):c.5799A>G (p.Lys1933=)
|
|
|
|
NM_001206927.2(DNAH8):c.5802T>C (p.Asp1934=)
|
rs753223026
|
|
|
NM_001206927.2(DNAH8):c.5808G>A (p.Arg1936=)
|
rs867862598
|
|
|
NM_001206927.2(DNAH8):c.5821G>A (p.Val1941Met)
|
rs2150401217
|
|
|
NM_001206927.2(DNAH8):c.5823G>C (p.Val1941=)
|
rs142028718
|
|
|
NM_001206927.2(DNAH8):c.5828A>T (p.Asn1943Ile)
|
rs556109331
|
|
|
NM_001206927.2(DNAH8):c.5958+15T>C
|
rs2150401586
|
|
|
NM_001206927.2(DNAH8):c.5958+19del
|
rs753808577
|
|
|
NM_001206927.2(DNAH8):c.5958+19dup
|
rs753808577
|
|
|
NM_001206927.2(DNAH8):c.5993A>C (p.Glu1998Ala)
|
|
|
|
NM_001206927.2(DNAH8):c.6084A>G (p.Glu2028=)
|
rs2150406911
|
|
|
NM_001206927.2(DNAH8):c.610+4A>G
|
|
|
|
NM_001206927.2(DNAH8):c.611-8G>T
|
|
|
|
NM_001206927.2(DNAH8):c.611A>G (p.Glu204Gly)
|
|
|
|
NM_001206927.2(DNAH8):c.6125del (p.Thr2042fs)
|
rs2532975061
|
|
|
NM_001206927.2(DNAH8):c.6131+11C>T
|
rs2532975316
|
|
|
NM_001206927.2(DNAH8):c.6131+18C>T
|
rs565318806
|
|
|
NM_001206927.2(DNAH8):c.6131+19G>A
|
rs527849962
|
|
|
NM_001206927.2(DNAH8):c.6131+19G>T
|
rs527849962
|
|
|
NM_001206927.2(DNAH8):c.6131+24_6131+25dup
|
rs34840510
|
|
|
NM_001206927.2(DNAH8):c.6131+25dup
|
rs34840510
|
|
|
NM_001206927.2(DNAH8):c.6132-15G>C
|
|
|
|
NM_001206927.2(DNAH8):c.619C>G (p.Arg207Gly)
|
rs776176679
|
|
|
NM_001206927.2(DNAH8):c.6214A>G (p.Thr2072Ala)
|
rs2532992058
|
|
|
NM_001206927.2(DNAH8):c.6239T>C (p.Leu2080Ser)
|
rs1776704936
|
|
|
NM_001206927.2(DNAH8):c.6249T>C (p.Tyr2083=)
|
|
|
|
NM_001206927.2(DNAH8):c.6288A>C (p.Arg2096Ser)
|
rs2532993172
|
|
|
NM_001206927.2(DNAH8):c.6311-14G>A
|
rs373968930
|
|
|
NM_001206927.2(DNAH8):c.6325G>T (p.Gly2109Cys)
|
rs748575207
|
|
|
NM_001206927.2(DNAH8):c.6342T>C (p.Phe2114=)
|
rs760696722
|
|
|
NM_001206927.2(DNAH8):c.6367C>T (p.Pro2123Ser)
|
|
|
|
NM_001206927.2(DNAH8):c.6373T>C (p.Leu2125=)
|
rs1776839810
|
|
|
NM_001206927.2(DNAH8):c.6401T>G (p.Ile2134Ser)
|
rs1776841560
|
|
|
NM_001206927.2(DNAH8):c.6421G>A (p.Glu2141Lys)
|
rs2533008903
|
|
|
NM_001206927.2(DNAH8):c.6433_6434delinsAG (p.Gln2145Arg)
|
rs2150413656
|
|
|
NM_001206927.2(DNAH8):c.6447T>C (p.Ser2149=)
|
|
|
|
NM_001206927.2(DNAH8):c.6483A>G (p.Gly2161=)
|
|
|
|
NM_001206927.2(DNAH8):c.6494C>T (p.Thr2165Met)
|
rs199517916
|
|
|
NM_001206927.2(DNAH8):c.6495G>T (p.Thr2165=)
|
rs1338999745
|
|
|
NM_001206927.2(DNAH8):c.6498+11del
|
rs776099828
|
|
|
NM_001206927.2(DNAH8):c.6498+11dup
|
|
|
|
NM_001206927.2(DNAH8):c.6528A>G (p.Leu2176=)
|
rs45532134
|
|
|
NM_001206927.2(DNAH8):c.654G>A (p.Met218Ile)
|
rs750965126
|
|
|
NM_001206927.2(DNAH8):c.6586-19T>C
|
rs372082500
|
|
|
NM_001206927.2(DNAH8):c.6601A>C (p.Lys2201Gln)
|
rs2150418898
|
|
|
NM_001206927.2(DNAH8):c.665A>G (p.Tyr222Cys)
|
rs753974456
|
|
|
NM_001206927.2(DNAH8):c.6675A>G (p.Glu2225=)
|
rs1583220331
|
|
|
NM_001206927.2(DNAH8):c.6679C>T (p.Gln2227Ter)
|
rs777610268
|
|
|
NM_001206927.2(DNAH8):c.6681A>G (p.Gln2227=)
|
|
|
|
NM_001206927.2(DNAH8):c.668T>C (p.Ile223Thr)
|
rs1554195443
|
|
|
NM_001206927.2(DNAH8):c.6694-19C>T
|
rs1178485847
|
|
|
NM_001206927.2(DNAH8):c.6695T>G (p.Val2232Gly)
|
rs2533047773
|
|
|
NM_001206927.2(DNAH8):c.670G>A (p.Asp224Asn)
|
rs1009197625
|
|
|
NM_001206927.2(DNAH8):c.6721A>G (p.Ile2241Val)
|
rs1563049849
|
|
|
NM_001206927.2(DNAH8):c.6733T>C (p.Leu2245=)
|
rs2533048355
|
|
|
NM_001206927.2(DNAH8):c.6738G>A (p.Arg2246=)
|
rs2533048420
|
|
|
NM_001206927.2(DNAH8):c.6777T>C (p.Ser2259=)
|
|
|
|
NM_001206927.2(DNAH8):c.6777_6778del (p.Ser2259fs)
|
rs754547680
|
|
|
NM_001206927.2(DNAH8):c.6804A>G (p.Leu2268=)
|
rs2533049761
|
|
|
NM_001206927.2(DNAH8):c.6828+10C>T
|
rs1341887992
|
|
|
NM_001206927.2(DNAH8):c.6860T>G (p.Leu2287Ter)
|
rs2533069131
|
|
|
NM_001206927.2(DNAH8):c.6887A>G (p.Gln2296Arg)
|
rs1777382079
|
|
|
NM_001206927.2(DNAH8):c.68C>A (p.Ala23Asp)
|
rs1471622411
|
|
|
NM_001206927.2(DNAH8):c.6950G>A (p.Gly2317Asp)
|
rs1307310167
|
|
|
NM_001206927.2(DNAH8):c.6957T>A (p.Ile2319=)
|
rs1777387932
|
|
|
NM_001206927.2(DNAH8):c.6962_6968del (p.His2321fs)
|
rs752692263
|
|
|
NM_001206927.2(DNAH8):c.6968C>T (p.Pro2323Leu)
|
rs1034546923
|
|
|
NM_001206927.2(DNAH8):c.6969C>A (p.Pro2323=)
|
|
|
|
NM_001206927.2(DNAH8):c.6984C>T (p.Leu2328=)
|
rs746205471
|
|
|
NM_001206927.2(DNAH8):c.6985G>T (p.Val2329Leu)
|
rs143397128
|
|
|
NM_001206927.2(DNAH8):c.6990+16T>A
|
|
|
|
NM_001206927.2(DNAH8):c.6990+17C>T
|
rs764654568
|
|
|
NM_001206927.2(DNAH8):c.6990+19A>G
|
rs2150428725
|
|
|
NM_001206927.2(DNAH8):c.6990+6G>T
|
|
|
|
NM_001206927.2(DNAH8):c.6994T>C (p.Tyr2332His)
|
rs1777546567
|
|
|
NM_001206927.2(DNAH8):c.6G>C (p.Glu2Asp)
|
rs774924483
|
|
|
NM_001206927.2(DNAH8):c.7023G>A (p.Leu2341=)
|
rs932781204
|
|
|
NM_001206927.2(DNAH8):c.7029T>A (p.Thr2343=)
|
rs1313501002
|
|
|
NM_001206927.2(DNAH8):c.7059C>T (p.Thr2353=)
|
|
|
|
NM_001206927.2(DNAH8):c.7086_7089dup (p.Glu2364fs)
|
rs777613343
|
|
|
NM_001206927.2(DNAH8):c.7095C>T (p.Cys2365=)
|
|
|
|
NM_001206927.2(DNAH8):c.7096G>A (p.Gly2366Arg)
|
rs549318995
|
|
|
NM_001206927.2(DNAH8):c.7096G>C (p.Gly2366Arg)
|
rs549318995
|
|
|
NM_001206927.2(DNAH8):c.7128A>G (p.Pro2376=)
|
rs2533090926
|
|
|
NM_001206927.2(DNAH8):c.7165G>A (p.Asp2389Asn)
|
rs2533091416
|
|
|
NM_001206927.2(DNAH8):c.7177A>C (p.Asn2393His)
|
rs377740147
|
|
|
NM_001206927.2(DNAH8):c.7210_7211del (p.Trp2404fs)
|
|
|
|
NM_001206927.2(DNAH8):c.7237+15_7237+17del
|
|
|
|
NM_001206927.2(DNAH8):c.7237+16C>G
|
|
|
|
NM_001206927.2(DNAH8):c.7303G>A (p.Val2435Ile)
|
rs749048233
|
|
|
NM_001206927.2(DNAH8):c.7362T>G (p.Pro2454=)
|
|
|
|
NM_001206927.2(DNAH8):c.7396G>T (p.Glu2466Ter)
|
rs1430752700
|
|
|
NM_001206927.2(DNAH8):c.7416G>A (p.Thr2472=)
|
rs773155985
|
|
|
NM_001206927.2(DNAH8):c.7417G>A (p.Val2473Ile)
|
|
|
|
NM_001206927.2(DNAH8):c.7421C>G (p.Ser2474Cys)
|
|
|
|
NM_001206927.2(DNAH8):c.7479+18GAA[4]
|
rs776368866
|
|
|
NM_001206927.2(DNAH8):c.7479+6dup
|
rs2150435501
|
|
|
NM_001206927.2(DNAH8):c.7479+8A>G
|
|
|
|
NM_001206927.2(DNAH8):c.7524G>C (p.Leu2508=)
|
rs2533099824
|
|
|
NM_001206927.2(DNAH8):c.7532A>T (p.Tyr2511Phe)
|
rs1191463357
|
|
|
NM_001206927.2(DNAH8):c.7536G>C (p.Glu2512Asp)
|
rs368018225
|
|
|
NM_001206927.2(DNAH8):c.7560A>G (p.Thr2520=)
|
rs1777616656
|
|
|
NM_001206927.2(DNAH8):c.7576C>A (p.Leu2526Ile)
|
rs1253294161
|
|
|
NM_001206927.2(DNAH8):c.7615G>A (p.Val2539Met)
|
rs2533101413
|
|
|
NM_001206927.2(DNAH8):c.762+1G>A
|
rs2534059041
|
|
|
NM_001206927.2(DNAH8):c.762+20C>G
|
|
|
|
NM_001206927.2(DNAH8):c.762+8del
|
rs752866956
|
|
|
NM_001206927.2(DNAH8):c.7620+15del
|
rs558170060
|
|
|
NM_001206927.2(DNAH8):c.7620+15dup
|
rs558170060
|
|
|
NM_001206927.2(DNAH8):c.763-7C>A
|
rs1554196154
|
|
|
NM_001206927.2(DNAH8):c.7653C>T (p.Ser2551=)
|
|
|
|
NM_001206927.2(DNAH8):c.7664G>A (p.Gly2555Asp)
|
rs1457561714
|
|
|
NM_001206927.2(DNAH8):c.7670T>A (p.Val2557Asp)
|
rs2533136229
|
|
|
NM_001206927.2(DNAH8):c.7678G>A (p.Val2560Ile)
|
rs1777940777
|
|
|
NM_001206927.2(DNAH8):c.7731C>G (p.Ala2577=)
|
rs2533137170
|
|
|
NM_001206927.2(DNAH8):c.7735C>T (p.Leu2579=)
|
|
|
|
NM_001206927.2(DNAH8):c.775A>C (p.Thr259Pro)
|
rs2127581124
|
|
|
NM_001206927.2(DNAH8):c.7791G>C (p.Lys2597Asn)
|
rs1554124713
|
|
|
NM_001206927.2(DNAH8):c.7793del (p.Leu2598fs)
|
rs749731714
|
|
|
NM_001206927.2(DNAH8):c.7832T>A (p.Met2611Lys)
|
rs2150445794
|
|
|
NM_001206927.2(DNAH8):c.7863T>C (p.Asp2621=)
|
rs1554126747
|
|
|
NM_001206927.2(DNAH8):c.7882A>G (p.Lys2628Glu)
|
|
|
|
NM_001206927.2(DNAH8):c.788C>A (p.Ala263Glu)
|
rs145115573
|
|
|
NM_001206927.2(DNAH8):c.788C>T (p.Ala263Val)
|
rs145115573
|
|
|
NM_001206927.2(DNAH8):c.7894TAT[2] (p.Tyr2634del)
|
rs1583267887
|
|
|
NM_001206927.2(DNAH8):c.7917T>G (p.Ile2639Met)
|
rs1778621245
|
|
|
NM_001206927.2(DNAH8):c.7961G>C (p.Arg2654Thr)
|
rs1778625788
|
|
|
NM_001206927.2(DNAH8):c.7978_7979dup (p.Asp2660fs)
|
rs753496815
|
|
|
NM_001206927.2(DNAH8):c.7996C>T (p.His2666Tyr)
|
rs1348383754
|
|
|
NM_001206927.2(DNAH8):c.799C>G (p.Leu267Val)
|
rs1764158324
|
|
|
NM_001206927.2(DNAH8):c.8001+19T>A
|
rs2533200474
|
|
|
NM_001206927.2(DNAH8):c.8002-20C>T
|
rs753226016
|
|
|
NM_001206927.2(DNAH8):c.8016A>G (p.Thr2672=)
|
|
|
|
NM_001206927.2(DNAH8):c.8041_8042del (p.Val2681fs)
|
|
|
|
NM_001206927.2(DNAH8):c.8081_8085del (p.Val2694fs)
|
rs2533205148
|
|
|
NM_001206927.2(DNAH8):c.8108C>A (p.Ser2703Ter)
|
rs2533205504
|
|
|
NM_001206927.2(DNAH8):c.8124A>G (p.Pro2708=)
|
rs1583269175
|
|
|
NM_001206927.2(DNAH8):c.8130_8132del (p.Met2710_Phe2711delinsIle)
|
rs2533205929
|
|
|
NM_001206927.2(DNAH8):c.8137-16G>A
|
rs757897142
|
|
|
NM_001206927.2(DNAH8):c.8137-9_8137-7del
|
rs1554127096
|
|
|
NM_001206927.2(DNAH8):c.8142A>T (p.Thr2714=)
|
rs2533210385
|
|
|
NM_001206927.2(DNAH8):c.8156T>C (p.Val2719Ala)
|
rs1778706363
|
|
|
NM_001206927.2(DNAH8):c.8175C>A (p.Ser2725Arg)
|
rs1488192188
|
|
|
NM_001206927.2(DNAH8):c.8178A>G (p.Thr2726=)
|
rs2533211037
|
|
|
NM_001206927.2(DNAH8):c.8259+15T>C
|
rs1337591682
|
|
|
NM_001206927.2(DNAH8):c.8259+16C>T
|
rs1427336617
|
|
|
NM_001206927.2(DNAH8):c.8259+1G>A
|
rs2533212514
|
|
|
NM_001206927.2(DNAH8):c.8259+7C>T
|
rs777711446
|
|
|
NM_001206927.2(DNAH8):c.8267A>G (p.Asn2756Ser)
|
rs2150476745
|
|
|
NM_001206927.2(DNAH8):c.8311T>C (p.Leu2771=)
|
rs1344469295
|
|
|
NM_001206927.2(DNAH8):c.8346T>C (p.Asp2782=)
|
rs2533236778
|
|
|
NM_001206927.2(DNAH8):c.8354T>A (p.Leu2785His)
|
|
|
|
NM_001206927.2(DNAH8):c.8375del (p.Pro2792fs)
|
rs776079621
|
|
|
NM_001206927.2(DNAH8):c.8387G>T (p.Arg2796Leu)
|
rs576946348
|
|
|
NM_001206927.2(DNAH8):c.8454T>G (p.Ala2818=)
|
rs1403815470
|
|
|
NM_001206927.2(DNAH8):c.8467A>C (p.Ile2823Leu)
|
rs1778977301
|
|
|
NM_001206927.2(DNAH8):c.8500C>T (p.Pro2834Ser)
|
rs760626246
|
|
|
NM_001206927.2(DNAH8):c.8574A>G (p.Gln2858=)
|
rs1200350157
|
|
|
NM_001206927.2(DNAH8):c.8583+11G>A
|
rs2533268855
|
|
|
NM_001206927.2(DNAH8):c.8584-12T>G
|
rs2533292634
|
|
|
NM_001206927.2(DNAH8):c.8621T>A (p.Ile2874Asn)
|
rs1554129791
|
|
|
NM_001206927.2(DNAH8):c.8633G>A (p.Arg2878Gln)
|
|
|
|
NM_001206927.2(DNAH8):c.8635_8636del (p.Asp2879fs)
|
rs753926744
|
|
|
NM_001206927.2(DNAH8):c.8638C>T (p.Leu2880Phe)
|
rs2533293381
|
|
|
NM_001206927.2(DNAH8):c.8690C>G (p.Ser2897Ter)
|
|
|
|
NM_001206927.2(DNAH8):c.872C>A (p.Ala291Asp)
|
rs371250738
|
|
|
NM_001206927.2(DNAH8):c.872C>T (p.Ala291Val)
|
rs371250738
|
|
|
NM_001206927.2(DNAH8):c.8747+2T>C
|
|
|
|
NM_001206927.2(DNAH8):c.8747+4C>T
|
rs201261721
|
|
|
NM_001206927.2(DNAH8):c.8748-4T>A
|
rs945592343
|
|
|
NM_001206927.2(DNAH8):c.8748-9del
|
rs748668438
|
|
|
NM_001206927.2(DNAH8):c.8769G>A (p.Glu2923=)
|
rs142674094
|
|
|
NM_001206927.2(DNAH8):c.8784A>G (p.Ala2928=)
|
|
|
|
NM_001206927.2(DNAH8):c.881A>C (p.Gln294Pro)
|
rs1764167267
|
|
|
NM_001206927.2(DNAH8):c.8826del (p.Ala2943fs)
|
|
|
|
NM_001206927.2(DNAH8):c.8831C>T (p.Ser2944Leu)
|
|
|
|
NM_001206927.2(DNAH8):c.8832G>A (p.Ser2944=)
|
rs748123661
|
|
|
NM_001206927.2(DNAH8):c.8832G>C (p.Ser2944=)
|
rs748123661
|
|
|
NM_001206927.2(DNAH8):c.8859G>A (p.Val2953=)
|
|
|
|
NM_001206927.2(DNAH8):c.8901T>A (p.Pro2967=)
|
rs750519404
|
|
|
NM_001206927.2(DNAH8):c.8916T>C (p.Phe2972=)
|
rs2533303854
|
|
|
NM_001206927.2(DNAH8):c.8938T>C (p.Leu2980=)
|
|
|
|
NM_001206927.2(DNAH8):c.8940+13A>G
|
rs2533304203
|
|
|
NM_001206927.2(DNAH8):c.8940+7A>C
|
|
|
|
NM_001206927.2(DNAH8):c.8941-13_8941-10del
|
rs1446164951
|
|
|
NM_001206927.2(DNAH8):c.8941-4A>G
|
rs1779833059
|
|
|
NM_001206927.2(DNAH8):c.8952_8953insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTTGGATTACAGGCGTGAGCCACCGCGCCCGGCCGCCATCCTTT (p.Asp2985delinsPhePhePhePhePhePheXaaXaaXaaXaaProAspLeuValIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer)
|
rs2533317859
|
|
|
NM_001206927.2(DNAH8):c.8958T>A (p.Phe2986Leu)
|
rs2533317994
|
|
|
NM_001206927.2(DNAH8):c.895G>C (p.Glu299Gln)
|
rs1307039134
|
|
|
NM_001206927.2(DNAH8):c.8997T>C (p.Asn2999=)
|
|
|
|
NM_001206927.2(DNAH8):c.9007A>G (p.Arg3003Gly)
|
rs1554130647
|
|
|
NM_001206927.2(DNAH8):c.9015A>T (p.Thr3005=)
|
rs1275590887
|
|
|
NM_001206927.2(DNAH8):c.9083C>T (p.Thr3028Met)
|
|
|
|
NM_001206927.2(DNAH8):c.9095del (p.Asn3032fs)
|
rs1561836628
|
|
|
NM_001206927.2(DNAH8):c.9111T>A (p.Gly3037=)
|
rs763138697
|
|
|
NM_001206927.2(DNAH8):c.9126A>G (p.Gly3042=)
|
rs1304105245
|
|
|
NM_001206927.2(DNAH8):c.9175T>C (p.Phe3059Leu)
|
rs2533328237
|
|
|
NM_001206927.2(DNAH8):c.9194+4G>C
|
rs1397795512
|
|
|
NM_001206927.2(DNAH8):c.9211A>G (p.Asn3071Asp)
|
rs1212760869
|
|
|
NM_001206927.2(DNAH8):c.9212A>G (p.Asn3071Ser)
|
rs1561844607
|
|
|
NM_001206927.2(DNAH8):c.9252T>A (p.Gly3084=)
|
rs2150520392
|
|
|
NM_001206927.2(DNAH8):c.9255T>C (p.Ala3085=)
|
rs2533370352
|
|
|
NM_001206927.2(DNAH8):c.9266G>C (p.Gly3089Ala)
|
rs1561844745
|
|
|
NM_001206927.2(DNAH8):c.9290G>A (p.Ser3097Asn)
|
|
|
|
NM_001206927.2(DNAH8):c.9298_9305del (p.Lys3100fs)
|
rs2150520528
|
|
|
NM_001206927.2(DNAH8):c.9301G>T (p.Asp3101Tyr)
|
rs2150520538
|
|
|
NM_001206927.2(DNAH8):c.9315A>C (p.Leu3105=)
|
|
|
|
NM_001206927.2(DNAH8):c.9333G>C (p.Leu3111Phe)
|
rs968838351
|
|
|
NM_001206927.2(DNAH8):c.9333G>T (p.Leu3111Phe)
|
|
|
|
NM_001206927.2(DNAH8):c.9348+2T>C
|
|
|
|
NM_001206927.2(DNAH8):c.9348+7C>T
|
rs2533371606
|
|
|
NM_001206927.2(DNAH8):c.9349-11A>G
|
rs1204024155
|
|
|
NM_001206927.2(DNAH8):c.9349-1G>T
|
rs1554132747
|
|
|
NM_001206927.2(DNAH8):c.9349-7C>A
|
rs2533382582
|
|
|
NM_001206927.2(DNAH8):c.938T>G (p.Leu313Arg)
|
rs1764173249
|
|
|
NM_001206927.2(DNAH8):c.9412A>C (p.Lys3138Gln)
|
|
|
|
NM_001206927.2(DNAH8):c.9486C>T (p.Asn3162=)
|
rs2533384193
|
|
|
NM_001206927.2(DNAH8):c.9501C>T (p.Leu3167=)
|
rs777059593
|
|
|
NM_001206927.2(DNAH8):c.9513+17A>G
|
|
|
|
NM_001206927.2(DNAH8):c.9513+19_9513+24del
|
|
|
|
NM_001206927.2(DNAH8):c.9513+7_9513+10del
|
rs2533384712
|
|
|
NM_001206927.2(DNAH8):c.9529del (p.Arg3177fs)
|
rs2533394646
|
|
|
NM_001206927.2(DNAH8):c.953-10del
|
rs771138717
|
|
|
NM_001206927.2(DNAH8):c.953-18C>A
|
|
|
|
NM_001206927.2(DNAH8):c.953-19T>C
|
|
|
|
NM_001206927.2(DNAH8):c.9536G>A (p.Arg3179His)
|
rs747689932
|
|
|
NM_001206927.2(DNAH8):c.9537T>C (p.Arg3179=)
|
|
|
|
NM_001206927.2(DNAH8):c.953G>T (p.Gly318Val)
|
rs567584262
|
|
|
NM_001206927.2(DNAH8):c.9600G>A (p.Arg3200=)
|
rs1265046232
|
|
|
NM_001206927.2(DNAH8):c.9627C>T (p.Tyr3209=)
|
|
|
|
NM_001206927.2(DNAH8):c.9671G>T (p.Arg3224Ile)
|
rs775998449
|
|
|
NM_001206927.2(DNAH8):c.9705C>T (p.Asp3235=)
|
|
|
|
NM_001206927.2(DNAH8):c.9717G>A (p.Glu3239=)
|
rs1297889377
|
|
|
NM_001206927.2(DNAH8):c.9719G>A (p.Ser3240Asn)
|
rs1583326923
|
|
|
NM_001206927.2(DNAH8):c.9740+4_9740+10del
|
rs773097842
|
|
|
NM_001206927.2(DNAH8):c.9740+8A>G
|
rs1380438504
|
|
|
NM_001206927.2(DNAH8):c.9741-13G>A
|
rs772470527
|
|
|
NM_001206927.2(DNAH8):c.9741-13G>T
|
rs772470527
|
|
|
NM_001206927.2(DNAH8):c.9741-14T>C
|
rs989642321
|
|
|
NM_001206927.2(DNAH8):c.9756A>G (p.Ala3252=)
|
|
|
|
NM_001206927.2(DNAH8):c.976A>C (p.Thr326Pro)
|
|
|
|
NM_001206927.2(DNAH8):c.9771A>G (p.Lys3257=)
|
rs769631791
|
|
|
NM_001206927.2(DNAH8):c.9792T>C (p.Asn3264=)
|
rs1340963053
|
|
|
NM_001206927.2(DNAH8):c.9812_9813insGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAACATTTATGC (p.Glu3272fs)
|
|
|
|
NM_001206927.2(DNAH8):c.9818A>G (p.Lys3273Arg)
|
|
|
|
NM_001206927.2(DNAH8):c.983A>G (p.Lys328Arg)
|
rs1582867594
|
|
|
NM_001206927.2(DNAH8):c.9846A>G (p.Glu3282=)
|
|
|
|
NM_001206927.2(DNAH8):c.9859+17G>T
|
|
|
|
NM_001206927.2(DNAH8):c.9859+5_9859+9dup
|
rs1327551624
|
|
|
NM_001206927.2(DNAH8):c.9859+7GGAAT[2]
|
rs878854276
|
|
|
NM_001206927.2(DNAH8):c.9860-11T>C
|
rs757770092
|
|
|
NM_001206927.2(DNAH8):c.9860-9T>A
|
rs1781091922
|
|
|
NM_001206927.2(DNAH8):c.9898A>T (p.Lys3300Ter)
|
rs2150536009
|
|
|
NM_001206927.2(DNAH8):c.9963+10C>T
|
|
|
|
NM_001206927.2(DNAH8):c.9996T>G (p.Ala3332=)
|
|
|
|
NM_001206927.2(DNAH8):c.999C>T (p.Asp333=)
|
rs374681790
|
|
|
NM_001256715.2(DNAAF3):c.-21A>T
|
|
|
|
NM_001256715.2(DNAAF3):c.-2T>C
|
rs751817551
|
|
|
NM_001256715.2(DNAAF3):c.-38G>A
|
rs2515549051
|
|
|
NM_001256715.2(DNAAF3):c.-4-11C>G
|
|
|
|
NM_001256715.2(DNAAF3):c.-4-1G>A
|
rs2147311724
|
|
|
NM_001256715.2(DNAAF3):c.-4G>C
|
|
|
|
NM_001256715.2(DNAAF3):c.-5+6G>A
|
|
|
|
NM_001256715.2(DNAAF3):c.-5+7dup
|
|
|
|
NM_001256715.2(DNAAF3):c.-60A>G
|
|
|
|
NM_001256715.2(DNAAF3):c.-67C>T
|
rs2085943148
|
|
|
NM_001256715.2(DNAAF3):c.-78G>A
|
rs2515549286
|
|
|
NM_001256715.2(DNAAF3):c.-7A>G
|
rs2147311994
|
|
|
NM_001256715.2(DNAAF3):c.-93C>T
|
|
|
|
NM_001256715.2(DNAAF3):c.-9T>C
|
|
|
|
NM_001256715.2(DNAAF3):c.1031C>G (p.Pro344Arg)
|
rs543007128
|
|
|
NM_001256715.2(DNAAF3):c.1032G>A (p.Pro344=)
|
rs373649217
|
|
|
NM_001256715.2(DNAAF3):c.1036C>T (p.Pro346Ser)
|
rs764321844
|
|
|
NM_001256715.2(DNAAF3):c.1041_1048+1del
|
rs767677564
|
|
|
NM_001256715.2(DNAAF3):c.1044_1048+13del
|
rs1215112070
|
|
|
NM_001256715.2(DNAAF3):c.1048+12ACA[2]
|
rs764506535
|
|
|
NM_001256715.2(DNAAF3):c.1048+14_1048+15delinsTC
|
rs2147293871
|
|
|
NM_001256715.2(DNAAF3):c.1048+14_1048+34del
|
rs6146559
|
|
|
NM_001256715.2(DNAAF3):c.1051G>A (p.Ala351Thr)
|
rs748600370
|
|
|
NM_001256715.2(DNAAF3):c.1061C>T (p.Pro354Leu)
|
|
|
|
NM_001256715.2(DNAAF3):c.107C>T (p.Ser36Phe)
|
rs2515545587
|
|
|
NM_001256715.2(DNAAF3):c.1086G>A (p.Leu362=)
|
|
|
|
NM_001256715.2(DNAAF3):c.1093= (p.Asn365=)
|
rs890872
|
|
|
NM_001256715.2(DNAAF3):c.1100C>A (p.Ala367Asp)
|
rs768812237
|
|
|
NM_001256715.2(DNAAF3):c.1109_1110del (p.Leu370fs)
|
rs2085791151
|
|
|
NM_001256715.2(DNAAF3):c.1111C>T (p.His371Tyr)
|
rs2085791092
|
|
|
NM_001256715.2(DNAAF3):c.1131C>G (p.Asn377Lys)
|
rs368717048
|
|
|
NM_001256715.2(DNAAF3):c.1135C>T (p.Arg379Ter)
|
rs763874734
|
|
|
NM_001256715.2(DNAAF3):c.1136G>A (p.Arg379Gln)
|
|
|
|
NM_001256715.2(DNAAF3):c.114C>T (p.Ala38=)
|
rs1228746764
|
|
|
NM_001256715.2(DNAAF3):c.1155G>A (p.Val385=)
|
|
|
|
NM_001256715.2(DNAAF3):c.1157C>G (p.Ala386Gly)
|
rs759305002
|
|
|
NM_001256715.2(DNAAF3):c.1163+10G>T
|
rs200324983
|
|
|
NM_001256715.2(DNAAF3):c.1163+7G>A
|
|
|
|
NM_001256715.2(DNAAF3):c.1163+7G>C
|
|
|
|
NM_001256715.2(DNAAF3):c.1163+8G>A
|
rs772585706
|
|
|
NM_001256715.2(DNAAF3):c.1164-10C>G
|
rs2085781996
|
|
|
NM_001256715.2(DNAAF3):c.1164-18C>A
|
|
|
|
NM_001256715.2(DNAAF3):c.1167G>C (p.Met389Ile)
|
|
|
|
NM_001256715.2(DNAAF3):c.1182C>T (p.Ile394=)
|
rs1231697852
|
|
|
NM_001256715.2(DNAAF3):c.1195del (p.Ala399fs)
|
rs2085781090
|
|
|
NM_001256715.2(DNAAF3):c.1219T>C (p.Leu407=)
|
rs1416853193
|
|
|
NM_001256715.2(DNAAF3):c.1238+1G>A
|
|
|
|
NM_001256715.2(DNAAF3):c.1238+20G>A
|
rs749232820
|
|
|
NM_001256715.2(DNAAF3):c.1238G>A (p.Arg413Gln)
|
rs771791101
|
|
|
NM_001256715.2(DNAAF3):c.1239-9_1239-8inv
|
|
|
|
NM_001256715.2(DNAAF3):c.1253T>C (p.Val418Ala)
|
rs2515511096
|
|
|
NM_001256715.2(DNAAF3):c.1253_1256dup (p.Gln420fs)
|
rs1317129577
|
|
|
NM_001256715.2(DNAAF3):c.1255C>A (p.Arg419=)
|
rs201929981
|
|
|
NM_001256715.2(DNAAF3):c.126C>A (p.His42Gln)
|
rs2515545477
|
|
|
NM_001256715.2(DNAAF3):c.1271dup (p.Phe426fs)
|
rs1349668884
|
|
|
NM_001256715.2(DNAAF3):c.1273G>C (p.Gly425Arg)
|
rs2515510985
|
|
|
NM_001256715.2(DNAAF3):c.1284C>T (p.Thr428=)
|
|
|
|
NM_001256715.2(DNAAF3):c.1293G>T (p.Arg431Ser)
|
rs2085776209
|
|
|
NM_001256715.2(DNAAF3):c.1294G>A (p.Glu432Lys)
|
rs1378586132
|
|
|
NM_001256715.2(DNAAF3):c.133C>T (p.Pro45Ser)
|
|
|
|
NM_001256715.2(DNAAF3):c.1354G>A (p.Ala452Thr)
|
rs546293010
|
|
|
NM_001256715.2(DNAAF3):c.1368G>A (p.Lys456=)
|
rs1555865729
|
|
|
NM_001256715.2(DNAAF3):c.1376A>C (p.Glu459Ala)
|
rs1234177840
|
|
|
NM_001256715.2(DNAAF3):c.1377A>C (p.Glu459Asp)
|
rs372161739
|
|
|
NM_001256715.2(DNAAF3):c.1377A>G (p.Glu459=)
|
|
|
|
NM_001256715.2(DNAAF3):c.1380A>G (p.Ser460=)
|
|
|
|
NM_001256715.2(DNAAF3):c.1391A>C (p.Asn464Thr)
|
rs2085774021
|
|
|
NM_001256715.2(DNAAF3):c.1394C>G (p.Thr465Ser)
|
rs886054638
|
|
|
NM_001256715.2(DNAAF3):c.1396G>A (p.Val466Ile)
|
|
|
|
NM_001256715.2(DNAAF3):c.1408G>C (p.Glu470Gln)
|
rs2515510425
|
|
|
NM_001256715.2(DNAAF3):c.1410del (p.Glu470fs)
|
rs878854280
|
|
|
NM_001256715.2(DNAAF3):c.1415G>A (p.Gly472Glu)
|
rs2147290092
|
|
|
NM_001256715.2(DNAAF3):c.1424C>G (p.Pro475Arg)
|
rs1568861889
|
|
|
NM_001256715.2(DNAAF3):c.1429G>C (p.Asp477His)
|
rs1448187041
|
|
|
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.1460A>T (p.Asn487Ile)
|
|
|
|
NM_001256715.2(DNAAF3):c.1471_1472delinsAG (p.Glu491Arg)
|
rs1599916117
|
|
|
NM_001256715.2(DNAAF3):c.1475dup (p.Leu493fs)
|
rs1258490043
|
|
|
NM_001256715.2(DNAAF3):c.1485G>C (p.Gln495His)
|
rs2515510019
|
|
|
NM_001256715.2(DNAAF3):c.1487C>T (p.Pro496Leu)
|
rs757426979
|
|
|
NM_001256715.2(DNAAF3):c.1494G>A (p.Gln498=)
|
rs1371987115
|
|
|
NM_001256715.2(DNAAF3):c.1495G>A (p.Gly499Ser)
|
rs751749516
|
|
|
NM_001256715.2(DNAAF3):c.1507C>T (p.His503Tyr)
|
rs758688329
|
|
|
NM_001256715.2(DNAAF3):c.1509C>T (p.His503=)
|
rs752844873
|
|
|
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.1590G>T (p.Pro530=)
|
|
|
|
NM_001256715.2(DNAAF3):c.1604C>T (p.Ser535Leu)
|
|
|
|
NM_001256715.2(DNAAF3):c.1605A>G (p.Ser535=)
|
rs2515509550
|
|
|
NM_001256715.2(DNAAF3):c.1618G>A (p.Gly540Arg)
|
|
|
|
NM_001256715.2(DNAAF3):c.161_162del (p.Ser54fs)
|
rs780701843
|
|
|
NM_001256715.2(DNAAF3):c.164_165del (p.Val55fs)
|
rs770306950
|
|
|
NM_001256715.2(DNAAF3):c.172C>G (p.Arg58Gly)
|
rs1205985038
|
|
|
NM_001256715.2(DNAAF3):c.172C>T (p.Arg58Trp)
|
|
|
|
NM_001256715.2(DNAAF3):c.174del (p.His59fs)
|
rs1384651581
|
|
|
NM_001256715.2(DNAAF3):c.175C>T (p.His59Tyr)
|
|
|
|
NM_001256715.2(DNAAF3):c.178C>G (p.Leu60Val)
|
|
|
|
NM_001256715.2(DNAAF3):c.180G>T (p.Leu60=)
|
rs761236489
|
|
|
NM_001256715.2(DNAAF3):c.198A>G (p.Arg66=)
|
|
|
|
NM_001256715.2(DNAAF3):c.201G>A (p.Ala67=)
|
|
|
|
NM_001256715.2(DNAAF3):c.212C>G (p.Pro71Arg)
|
rs755945019
|
|
|
NM_001256715.2(DNAAF3):c.216C>A (p.Arg72=)
|
rs2515544942
|
|
|
NM_001256715.2(DNAAF3):c.228+10G>A
|
rs528707553
|
|
|
NM_001256715.2(DNAAF3):c.228+17A>G
|
rs2515544821
|
|
|
NM_001256715.2(DNAAF3):c.243G>A (p.Glu81=)
|
rs1272525932
|
|
|
NM_001256715.2(DNAAF3):c.245A>C (p.Asn82Thr)
|
rs2515542983
|
|
|
NM_001256715.2(DNAAF3):c.246T>C (p.Asn82=)
|
rs2515542976
|
|
|
NM_001256715.2(DNAAF3):c.24C>T (p.Gly8=)
|
|
|
|
NM_001256715.2(DNAAF3):c.262G>A (p.Ala88Thr)
|
rs1568868472
|
|
|
NM_001256715.2(DNAAF3):c.303G>C (p.Pro101=)
|
rs371199276
|
|
|
NM_001256715.2(DNAAF3):c.322+13G>A
|
|
|
|
NM_001256715.2(DNAAF3):c.322+13_322+16del
|
rs2085920706
|
|
|
NM_001256715.2(DNAAF3):c.322+16C>A
|
|
|
|
NM_001256715.2(DNAAF3):c.323-11TC[2]
|
rs1555867915
|
|
|
NM_001256715.2(DNAAF3):c.323-14C>A
|
|
|
|
NM_001256715.2(DNAAF3):c.323-14C>T
|
|
|
|
NM_001256715.2(DNAAF3):c.323-4G>A
|
|
|
|
NM_001256715.2(DNAAF3):c.323-5dup
|
rs2515529970
|
|
|
NM_001256715.2(DNAAF3):c.323-6C>T
|
rs2515529984
|
|
|
NM_001256715.2(DNAAF3):c.357C>G (p.Asn119Lys)
|
rs1165524335
|
|
|
NM_001256715.2(DNAAF3):c.359C>T (p.Ala120Val)
|
rs2515529745
|
|
|
NM_001256715.2(DNAAF3):c.363G>C (p.Leu121=)
|
rs551100219
|
|
|
NM_001256715.2(DNAAF3):c.363_373del (p.Leu122fs)
|
rs1159887305
|
|
|
NM_001256715.2(DNAAF3):c.377T>G (p.Val126Gly)
|
rs2515529605
|
|
|
NM_001256715.2(DNAAF3):c.380C>G (p.Ala127Gly)
|
rs1422887369
|
|
|
NM_001256715.2(DNAAF3):c.381C>T (p.Ala127=)
|
rs968469725
|
|
|
NM_001256715.2(DNAAF3):c.382G>A (p.Ala128Thr)
|
rs1599923566
|
|
|
NM_001256715.2(DNAAF3):c.384C>T (p.Ala128=)
|
rs2515529573
|
|
|
NM_001256715.2(DNAAF3):c.402C>T (p.Ala134=)
|
rs1056296743
|
|
|
NM_001256715.2(DNAAF3):c.40G>C (p.Val14Leu)
|
rs776426860
|
|
|
NM_001256715.2(DNAAF3):c.413C>T (p.Ala138Val)
|
|
|
|
NM_001256715.2(DNAAF3):c.42del (p.Ser15fs)
|
rs2515547984
|
|
|
NM_001256715.2(DNAAF3):c.436C>A (p.Arg146Ser)
|
rs920046859
|
|
|
NM_001256715.2(DNAAF3):c.448C>T (p.Gln150Ter)
|
rs1040183266
|
|
|
NM_001256715.2(DNAAF3):c.462C>T (p.Leu154=)
|
rs1599923335
|
|
|
NM_001256715.2(DNAAF3):c.473C>T (p.Ala158Val)
|
rs2515528932
|
|
|
NM_001256715.2(DNAAF3):c.480+2_480+9del
|
rs2147299107
|
|
|
NM_001256715.2(DNAAF3):c.480+5C>A
|
rs757597159
|
|
|
NM_001256715.2(DNAAF3):c.480+5C>T
|
rs757597159
|
|
|
NM_001256715.2(DNAAF3):c.480+9G>T
|
|
|
|
NM_001256715.2(DNAAF3):c.481-19C>T
|
|
|
|
NM_001256715.2(DNAAF3):c.481-3C>G
|
rs1599922783
|
|
|
NM_001256715.2(DNAAF3):c.481-4G>A
|
|
|
|
NM_001256715.2(DNAAF3):c.481-5C>T
|
|
|
|
NM_001256715.2(DNAAF3):c.481-8C>A
|
rs754029580
|
|
|
NM_001256715.2(DNAAF3):c.485G>T (p.Arg162Leu)
|
rs1060502832
|
|
|
NM_001256715.2(DNAAF3):c.490C>T (p.Arg164Trp)
|
rs763784422
|
|
|
NM_001256715.2(DNAAF3):c.491G>T (p.Arg164Leu)
|
rs771839338
|
|
|
NM_001256715.2(DNAAF3):c.498C>T (p.Ala166=)
|
rs2515526862
|
|
|
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.51G>A (p.Trp17Ter)
|
rs760237737
|
|
|
NM_001256715.2(DNAAF3):c.548_558dup (p.Ser187delinsArgSerProTer)
|
rs2147297973
|
|
|
NM_001256715.2(DNAAF3):c.54C>A (p.Gly18=)
|
rs1045659712
|
|
|
NM_001256715.2(DNAAF3):c.575C>T (p.Ser192Leu)
|
|
|
|
NM_001256715.2(DNAAF3):c.576G>A (p.Ser192=)
|
rs755044326
|
|
|
NM_001256715.2(DNAAF3):c.576G>C (p.Ser192=)
|
rs755044326
|
|
|
NM_001256715.2(DNAAF3):c.587delinsTGGG (p.His196delinsLeuGly)
|
rs2085838084
|
|
|
NM_001256715.2(DNAAF3):c.594G>C (p.Leu198=)
|
rs2515526117
|
|
|
NM_001256715.2(DNAAF3):c.596G>A (p.Gly199Asp)
|
rs1027477113
|
|
|
NM_001256715.2(DNAAF3):c.598_611del (p.Ser200fs)
|
rs772829541
|
|
|
NM_001256715.2(DNAAF3):c.607_611dup (p.Arg205fs)
|
rs1060502831
|
|
|
NM_001256715.2(DNAAF3):c.618C>T (p.Arg206=)
|
rs1194364356
|
|
|
NM_001256715.2(DNAAF3):c.634G>C (p.Asp212His)
|
rs2515525716
|
|
|
NM_001256715.2(DNAAF3):c.649C>T (p.Leu217=)
|
rs2515525616
|
|
|
NM_001256715.2(DNAAF3):c.650T>A (p.Leu217Gln)
|
rs2147297566
|
|
|
NM_001256715.2(DNAAF3):c.659_660delinsTT (p.Arg220Leu)
|
rs2085835582
|
|
|
NM_001256715.2(DNAAF3):c.663+11C>G
|
rs2515525419
|
|
|
NM_001256715.2(DNAAF3):c.664-13C>T
|
rs543185548
|
|
|
NM_001256715.2(DNAAF3):c.664-2_681dup
|
rs2515523815
|
|
|
NM_001256715.2(DNAAF3):c.664-4C>A
|
|
|
|
NM_001256715.2(DNAAF3):c.664-8C>A
|
rs1195848335
|
|
|
NM_001256715.2(DNAAF3):c.665C>A (p.Ala222Asp)
|
rs866731630
|
|
|
NM_001256715.2(DNAAF3):c.678C>A (p.His226Gln)
|
rs1430003811
|
|
|
NM_001256715.2(DNAAF3):c.700C>T (p.Arg234Trp)
|
|
|
|
NM_001256715.2(DNAAF3):c.704A>C (p.Asp235Ala)
|
rs1025793670
|
|
|
NM_001256715.2(DNAAF3):c.708A>G (p.Thr236=)
|
rs1253487279
|
|
|
NM_001256715.2(DNAAF3):c.712G>A (p.Val238Ile)
|
rs1380206004
|
|
|
NM_001256715.2(DNAAF3):c.72C>T (p.Asp24=)
|
rs200866175
|
|
|
NM_001256715.2(DNAAF3):c.730G>T (p.Asp244Tyr)
|
rs1461569802
|
|
|
NM_001256715.2(DNAAF3):c.739G>A (p.Ala247Thr)
|
rs2085827314
|
|
|
NM_001256715.2(DNAAF3):c.741C>G (p.Ala247=)
|
|
|
|
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.771C>T (p.Ser257=)
|
rs1319853706
|
|
|
NM_001256715.2(DNAAF3):c.772G>A (p.Gly258Ser)
|
|
|
|
NM_001256715.2(DNAAF3):c.775C>T (p.Arg259Cys)
|
rs765974072
|
|
|
NM_001256715.2(DNAAF3):c.783G>T (p.Leu261=)
|
rs763175552
|
|
|
NM_001256715.2(DNAAF3):c.789+5G>C
|
rs376485677
|
|
|
NM_001256715.2(DNAAF3):c.790-12C>A
|
rs2515522359
|
|
|
NM_001256715.2(DNAAF3):c.790-18C>G
|
|
|
|
NM_001256715.2(DNAAF3):c.819C>T (p.Tyr273=)
|
rs755713483
|
|
|
NM_001256715.2(DNAAF3):c.826G>A (p.Asp276Asn)
|
rs1353927924
|
|
|
NM_001256715.2(DNAAF3):c.826G>C (p.Asp276His)
|
rs1353927924
|
|
|
NM_001256715.2(DNAAF3):c.849_863del (p.Phe285_Ala289del)
|
rs2515521686
|
|
|
NM_001256715.2(DNAAF3):c.85+17A>G
|
rs1209840024
|
|
|
NM_001256715.2(DNAAF3):c.85+3G>C
|
rs1241133548
|
|
|
NM_001256715.2(DNAAF3):c.852C>A (p.Ala284=)
|
|
|
|
NM_001256715.2(DNAAF3):c.854T>C (p.Phe285Ser)
|
rs2515521782
|
|
|
NM_001256715.2(DNAAF3):c.86-14T>G
|
|
|
|
NM_001256715.2(DNAAF3):c.86-28G>A
|
rs2085932710
|
|
|
NM_001256715.2(DNAAF3):c.86-57C>A
|
rs2515545929
|
|
|
NM_001256715.2(DNAAF3):c.86-61_86-52del
|
rs2515545899
|
|
|
NM_001256715.2(DNAAF3):c.86-62G>A
|
rs777155853
|
|
|
NM_001256715.2(DNAAF3):c.86-68T>C
|
rs2515546013
|
|
|
NM_001256715.2(DNAAF3):c.86-68dup
|
rs775192993
|
|
|
NM_001256715.2(DNAAF3):c.86-6del
|
rs2515545698
|
|
|
NM_001256715.2(DNAAF3):c.86-70T>G
|
rs369434675
|
|
|
NM_001256715.2(DNAAF3):c.871G>A (p.Asp291Asn)
|
rs2085820367
|
|
|
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.891G>C (p.Thr297=)
|
rs565551381
|
|
|
NM_001256715.2(DNAAF3):c.901C>T (p.Gln301Ter)
|
rs2085819579
|
|
|
NM_001256715.2(DNAAF3):c.912+13del
|
rs2515521358
|
|
|
NM_001256715.2(DNAAF3):c.912+4C>A
|
rs2085819392
|
|
|
NM_001256715.2(DNAAF3):c.912+5G>A
|
rs1037483400
|
|
|
NM_001256715.2(DNAAF3):c.913-18C>G
|
|
|
|
NM_001256715.2(DNAAF3):c.913-9T>C
|
rs2515518762
|
|
|
NM_001256715.2(DNAAF3):c.913A>T (p.Thr305Ser)
|
|
|
|
NM_001256715.2(DNAAF3):c.914C>A (p.Thr305Lys)
|
rs964668148
|
|
|
NM_001256715.2(DNAAF3):c.915G>A (p.Thr305=)
|
rs886054640
|
|
|
NM_001256715.2(DNAAF3):c.915G>T (p.Thr305=)
|
rs886054640
|
|
|
NM_001256715.2(DNAAF3):c.918C>G (p.Ala306=)
|
rs371357562
|
|
|
NM_001256715.2(DNAAF3):c.936C>T (p.His312=)
|
rs1257841129
|
|
|
NM_001256715.2(DNAAF3):c.961del (p.Val321fs)
|
|
|
|
NM_001256715.2(DNAAF3):c.969del (p.Trp324fs)
|
rs2085808203
|
|
|
NM_001256715.2(DNAAF3):c.980C>G (p.Ala327Gly)
|
|
|
|
NM_001256715.2(DNAAF3):c.990C>T (p.Thr330=)
|
rs371092262
|
|
|
NM_001256715.2(DNAAF3):c.997dup (p.Asp333fs)
|
rs756430359
|
|
|
NM_001256715.2(DNAAF3):c.999C>T (p.Asp333=)
|
rs552015501
|
|
|
NM_001256715.2(DNAAF3):c.9A>G (p.Thr3=)
|
rs758211479
|
|
|
NM_001270974.2(HYDIN):c.10949-2A>G
|
rs2143654921
|
|
|
NM_001271049.2(CFAP221):c.2303_2307del (p.Leu768fs)
|
rs2104806661
|
|
|
NM_001277115.2(DNAH11):c.*154_*155dup
|
rs886062190
|
|
|
NM_001277115.2(DNAH11):c.*189C>G
|
rs62445901
|
|
|
NM_001277115.2(DNAH11):c.*193C>T
|
rs72658842
|
|
|
NM_001277115.2(DNAH11):c.*300_*303dup
|
rs745609865
|
|
|
NM_001277115.2(DNAH11):c.*506CAGTGTC[1]
|
rs113860457
|
|
|
NM_001277115.2(DNAH11):c.-159_346delinsGGCGCCCCG (p.Met1fs)
|
rs2534407745
|
|
|
NM_001277115.2(DNAH11):c.10002A>G (p.Leu3334=)
|
rs2535272332
|
|
|
NM_001277115.2(DNAH11):c.10005G>A (p.Glu3335=)
|
rs771208403
|
|
|
NM_001277115.2(DNAH11):c.10007C>G (p.Ala3336Gly)
|
|
|
|
NM_001277115.2(DNAH11):c.10009A>G (p.Ile3337Val)
|
rs145645790
|
|
|
NM_001277115.2(DNAH11):c.10010T>C (p.Ile3337Thr)
|
|
|
|
NM_001277115.2(DNAH11):c.10012A>G (p.Arg3338Gly)
|
rs769429079
|
|
|
NM_001277115.2(DNAH11):c.10017A>G (p.Lys3339=)
|
rs775019256
|
|
|
NM_001277115.2(DNAH11):c.10019A>C (p.Lys3340Thr)
|
rs1788333100
|
|
|
NM_001277115.2(DNAH11):c.10026+12C>G
|
rs2535272490
|
|
|
NM_001277115.2(DNAH11):c.10026+12C>T
|
rs2535272490
|
|
|
NM_001277115.2(DNAH11):c.10026+14A>C
|
rs768160240
|
|
|
NM_001277115.2(DNAH11):c.10026+14A>G
|
rs768160240
|
|
|
NM_001277115.2(DNAH11):c.10026+17A>C
|
|
|
|
NM_001277115.2(DNAH11):c.10026+19A>G
|
rs2535272533
|
|
|
NM_001277115.2(DNAH11):c.10026+1G>A
|
rs2535272453
|
|
|
NM_001277115.2(DNAH11):c.10026+1G>C
|
|
|
|
NM_001277115.2(DNAH11):c.10026+7G>A
|
rs2535272474
|
|
|
NM_001277115.2(DNAH11):c.10026+7G>C
|
rs2535272474
|
|
|
NM_001277115.2(DNAH11):c.10027-12A>T
|
rs1415419765
|
|
|
NM_001277115.2(DNAH11):c.10027-14C>G
|
rs1377383446
|
|
|
NM_001277115.2(DNAH11):c.10027-18A>C
|
rs367600609
|
|
|
NM_001277115.2(DNAH11):c.10027-2A>G
|
rs868294039
|
|
|
NM_001277115.2(DNAH11):c.10027-4T>G
|
rs769482483
|
|
|
NM_001277115.2(DNAH11):c.10027-6A>C
|
rs1788970483
|
|
|
NM_001277115.2(DNAH11):c.10027-7G>T
|
rs961175422
|
|
|
NM_001277115.2(DNAH11):c.10027G>T (p.Asp3343Tyr)
|
rs1336071429
|
|
|
NM_001277115.2(DNAH11):c.10035T>G (p.Asp3345Glu)
|
rs768054714
|
|
|
NM_001277115.2(DNAH11):c.10048A>T (p.Arg3350Ter)
|
rs1554282583
|
|
|
NM_001277115.2(DNAH11):c.10051C>G (p.Leu3351Val)
|
rs376710623
|
|
|
NM_001277115.2(DNAH11):c.10051C>T (p.Leu3351Phe)
|
rs376710623
|
|
|
NM_001277115.2(DNAH11):c.10054dup (p.Thr3352fs)
|
rs2535310419
|
|
|
NM_001277115.2(DNAH11):c.10056G>T (p.Thr3352=)
|
rs372186391
|
|
|
NM_001277115.2(DNAH11):c.10062A>T (p.Ser3354=)
|
rs2535310444
|
|
|
NM_001277115.2(DNAH11):c.10063T>C (p.Phe3355Leu)
|
rs2535310450
|
|
|
NM_001277115.2(DNAH11):c.10067A>G (p.Glu3356Gly)
|
rs781645210
|
|
|
NM_001277115.2(DNAH11):c.10072G>A (p.Ala3358Thr)
|
|
|
|
NM_001277115.2(DNAH11):c.10073C>T (p.Ala3358Val)
|
rs1372775459
|
|
|
NM_001277115.2(DNAH11):c.10075A>G (p.Thr3359Ala)
|
rs754609932
|
|
|
NM_001277115.2(DNAH11):c.10079C>T (p.Ala3360Val)
|
|
|
|
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.10098A>G (p.Gln3366=)
|
|
|
|
NM_001277115.2(DNAH11):c.100_101delinsTT (p.Glu34Leu)
|
rs398123604
|
|
|
NM_001277115.2(DNAH11):c.10103A>T (p.Glu3368Val)
|
rs1788977486
|
|
|
NM_001277115.2(DNAH11):c.10110C>T (p.Asn3370=)
|
rs746877733
|
|
|
NM_001277115.2(DNAH11):c.10111C>G (p.Gln3371Glu)
|
rs373830685
|
|
|
NM_001277115.2(DNAH11):c.10125C>T (p.Thr3375=)
|
rs192345130
|
|
|
NM_001277115.2(DNAH11):c.10128C>G (p.Ile3376Met)
|
rs368988134
|
|
|
NM_001277115.2(DNAH11):c.10129A>G (p.Lys3377Glu)
|
rs765363031
|
|
|
NM_001277115.2(DNAH11):c.10137T>C (p.Ala3379=)
|
|
|
|
NM_001277115.2(DNAH11):c.10138A>G (p.Asn3380Asp)
|
rs766787311
|
|
|
NM_001277115.2(DNAH11):c.10144C>T (p.Leu3382Phe)
|
rs754225311
|
|
|
NM_001277115.2(DNAH11):c.10149C>G (p.Val3383=)
|
|
|
|
NM_001277115.2(DNAH11):c.10153G>T (p.Glu3385Ter)
|
rs1208384558
|
|
|
NM_001277115.2(DNAH11):c.10154A>T (p.Glu3385Val)
|
rs2535310896
|
|
|
NM_001277115.2(DNAH11):c.10165+12del
|
rs2535311035
|
|
|
NM_001277115.2(DNAH11):c.10165+18A>T
|
rs1459940705
|
|
|
NM_001277115.2(DNAH11):c.10165+19A>G
|
rs745649847
|
|
|
NM_001277115.2(DNAH11):c.10165+1G>A
|
rs2535310959
|
|
|
NM_001277115.2(DNAH11):c.10165+20A>G
|
rs2535311076
|
|
|
NM_001277115.2(DNAH11):c.10165+6A>T
|
rs757987495
|
|
|
NM_001277115.2(DNAH11):c.10165+8C>A
|
rs2535311016
|
|
|
NM_001277115.2(DNAH11):c.10166-12T>C
|
|
|
|
NM_001277115.2(DNAH11):c.10166-13A>G
|
rs1789339078
|
|
|
NM_001277115.2(DNAH11):c.10166-7C>T
|
rs1374356971
|
|
|
NM_001277115.2(DNAH11):c.10175G>A (p.Arg3392His)
|
rs773319818
|
|
|
NM_001277115.2(DNAH11):c.10180G>T (p.Gly3394Cys)
|
rs777202241
|
|
|
NM_001277115.2(DNAH11):c.10183C>A (p.Gln3395Lys)
|
rs759904861
|
|
|
NM_001277115.2(DNAH11):c.10186T>C (p.Ser3396Pro)
|
rs1583718488
|
|
|
NM_001277115.2(DNAH11):c.10189A>C (p.Ile3397Leu)
|
rs2535331151
|
|
|
NM_001277115.2(DNAH11):c.10209A>G (p.Gln3403=)
|
rs763819043
|
|
|
NM_001277115.2(DNAH11):c.10221_10222del (p.Cys3408fs)
|
rs886042735
|
|
|
NM_001277115.2(DNAH11):c.10233T>A (p.Val3411=)
|
rs2535331379
|
|
|
NM_001277115.2(DNAH11):c.10242G>A (p.Thr3414=)
|
rs559218045
|
|
|
NM_001277115.2(DNAH11):c.10242G>C (p.Thr3414=)
|
rs559218045
|
|
|
NM_001277115.2(DNAH11):c.10242G>T (p.Thr3414=)
|
rs559218045
|
|
|
NM_001277115.2(DNAH11):c.10244C>T (p.Ala3415Val)
|
rs778003957
|
|
|
NM_001277115.2(DNAH11):c.10245G>T (p.Ala3415=)
|
rs199799310
|
|
|
NM_001277115.2(DNAH11):c.10260C>A (p.Tyr3420Ter)
|
rs1789346276
|
|
|
NM_001277115.2(DNAH11):c.10263C>G (p.Val3421=)
|
rs374812632
|
|
|
NM_001277115.2(DNAH11):c.10265del (p.Gly3422fs)
|
rs2535331517
|
|
|
NM_001277115.2(DNAH11):c.10267C>A (p.Pro3423Thr)
|
rs2535331524
|
|
|
NM_001277115.2(DNAH11):c.10275A>G (p.Thr3425=)
|
rs2535331558
|
|
|
NM_001277115.2(DNAH11):c.10276A>G (p.Arg3426Gly)
|
rs1562558499
|
|
|
NM_001277115.2(DNAH11):c.10286G>T (p.Arg3429Leu)
|
|
|
|
NM_001277115.2(DNAH11):c.10287C>T (p.Arg3429=)
|
rs2127996493
|
|
|
NM_001277115.2(DNAH11):c.10293G>A (p.Glu3431=)
|
rs2535331637
|
|
|
NM_001277115.2(DNAH11):c.10297G>A (p.Val3433Met)
|
|
|
|
NM_001277115.2(DNAH11):c.102G>A (p.Glu34=)
|
rs1406186023
|
|
|
NM_001277115.2(DNAH11):c.10301A>C (p.His3434Pro)
|
rs754773184
|
|
|
NM_001277115.2(DNAH11):c.10307A>G (p.Lys3436Arg)
|
rs2535331739
|
|
|
NM_001277115.2(DNAH11):c.1030dup (p.Arg344fs)
|
rs2534495509
|
|
|
NM_001277115.2(DNAH11):c.10311G>A (p.Trp3437Ter)
|
rs2535331758
|
|
|
NM_001277115.2(DNAH11):c.10312G>T (p.Val3438Phe)
|
rs757419040
|
|
|
NM_001277115.2(DNAH11):c.10318T>G (p.Phe3440Val)
|
rs1341470435
|
|
|
NM_001277115.2(DNAH11):c.1032A>T (p.Arg344Ser)
|
rs1322188587
|
|
|
NM_001277115.2(DNAH11):c.10332+13C>G
|
rs760125669
|
|
|
NM_001277115.2(DNAH11):c.10332+13C>T
|
|
|
|
NM_001277115.2(DNAH11):c.10332+18C>A
|
rs1380743459
|
|
|
NM_001277115.2(DNAH11):c.10332+1G>A
|
rs1789350322
|
|
|
NM_001277115.2(DNAH11):c.10332+20T>C
|
rs1327039413
|
|
|
NM_001277115.2(DNAH11):c.10332G>A (p.Lys3444=)
|
rs1243329120
|
|
|
NM_001277115.2(DNAH11):c.10333-10G>A
|
rs1353560684
|
|
|
NM_001277115.2(DNAH11):c.10333-13T>A
|
rs2535356349
|
|
|
NM_001277115.2(DNAH11):c.10333-1G>A
|
rs769279343
|
|
|
NM_001277115.2(DNAH11):c.10333-20A>G
|
rs1015246007
|
|
|
NM_001277115.2(DNAH11):c.10333-6T>G
|
rs2535356361
|
|
|
NM_001277115.2(DNAH11):c.10344A>G (p.Pro3448=)
|
rs2535356422
|
|
|
NM_001277115.2(DNAH11):c.10344A>T (p.Pro3448=)
|
|
|
|
NM_001277115.2(DNAH11):c.10348A>T (p.Thr3450Ser)
|
rs772431470
|
|
|
NM_001277115.2(DNAH11):c.10350C>T (p.Thr3450=)
|
rs200603138
|
|
|
NM_001277115.2(DNAH11):c.10356C>A (p.Gly3452=)
|
rs776117353
|
|
|
NM_001277115.2(DNAH11):c.1035C>A (p.His345Gln)
|
rs139391790
|
|
|
NM_001277115.2(DNAH11):c.10371C>T (p.Ser3457=)
|
rs1377289675
|
|
|
NM_001277115.2(DNAH11):c.10374G>A (p.Met3458Ile)
|
rs752635123
|
|
|
NM_001277115.2(DNAH11):c.10379C>A (p.Thr3460Lys)
|
rs573384750
|
|
|
NM_001277115.2(DNAH11):c.10379C>T (p.Thr3460Met)
|
rs573384750
|
|
|
NM_001277115.2(DNAH11):c.10381G>A (p.Asp3461Asn)
|
rs1789799061
|
|
|
NM_001277115.2(DNAH11):c.10383T>C (p.Asp3461=)
|
rs1389158174
|
|
|
NM_001277115.2(DNAH11):c.10389T>C (p.Ala3463=)
|
|
|
|
NM_001277115.2(DNAH11):c.10390A>G (p.Thr3464Ala)
|
|
|
|
NM_001277115.2(DNAH11):c.10399G>T (p.Ala3467Ser)
|
rs2214326
|
|
|
NM_001277115.2(DNAH11):c.10401C>A (p.Ala3467=)
|
rs2535356715
|
|
|
NM_001277115.2(DNAH11):c.10410C>A (p.Asn3470Lys)
|
rs746707590
|
|
|
NM_001277115.2(DNAH11):c.10413A>G (p.Glu3471=)
|
|
|
|
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.10440C>A (p.Thr3480=)
|
rs369013054
|
|
|
NM_001277115.2(DNAH11):c.10440C>G (p.Thr3480=)
|
rs369013054
|
|
|
NM_001277115.2(DNAH11):c.10453A>G (p.Ile3485Val)
|
rs1488913691
|
|
|
NM_001277115.2(DNAH11):c.10454T>C (p.Ile3485Thr)
|
rs766684571
|
|
|
NM_001277115.2(DNAH11):c.10456C>G (p.Leu3486Val)
|
rs1426677812
|
|
|
NM_001277115.2(DNAH11):c.10456C>T (p.Leu3486=)
|
rs1426677812
|
|
|
NM_001277115.2(DNAH11):c.10458A>G (p.Leu3486=)
|
rs2535357015
|
|
|
NM_001277115.2(DNAH11):c.10464C>T (p.His3488=)
|
rs376545278
|
|
|
NM_001277115.2(DNAH11):c.10473C>T (p.Arg3491=)
|
rs373124847
|
|
|
NM_001277115.2(DNAH11):c.10478C>T (p.Pro3493Leu)
|
rs1789804608
|
|
|
NM_001277115.2(DNAH11):c.10479T>G (p.Pro3493=)
|
rs2535357112
|
|
|
NM_001277115.2(DNAH11):c.10480C>G (p.Leu3494Val)
|
rs1789804697
|
|
|
NM_001277115.2(DNAH11):c.10482G>T (p.Leu3494=)
|
rs2535357129
|
|
|
NM_001277115.2(DNAH11):c.10507A>G (p.Ile3503Val)
|
|
|
|
NM_001277115.2(DNAH11):c.1050G>A (p.Gln350=)
|
rs2534495625
|
|
|
NM_001277115.2(DNAH11):c.10512dup (p.Trp3505fs)
|
rs2535357275
|
|
|
NM_001277115.2(DNAH11):c.10531G>T (p.Gly3511Ter)
|
rs1562563770
|
|
|
NM_001277115.2(DNAH11):c.10535T>G (p.Met3512Arg)
|
rs200972634
|
|
|
NM_001277115.2(DNAH11):c.10550C>G (p.Thr3517Arg)
|
rs1355460550
|
|
|
NM_001277115.2(DNAH11):c.10567G>T (p.Gly3523Trp)
|
|
|
|
NM_001277115.2(DNAH11):c.10568+7G>A
|
rs1356098038
|
|
|
NM_001277115.2(DNAH11):c.10568G>T (p.Gly3523Val)
|
rs1223461836
|
|
|
NM_001277115.2(DNAH11):c.10569-22_10569-16del
|
rs2535362173
|
|
|
NM_001277115.2(DNAH11):c.1056G>A (p.Thr352=)
|
|
|
|
NM_001277115.2(DNAH11):c.10574T>C (p.Leu3525Ser)
|
rs767940454
|
|
|
NM_001277115.2(DNAH11):c.10579G>A (p.Ala3527Thr)
|
rs750757854
|
|
|
NM_001277115.2(DNAH11):c.10580C>T (p.Ala3527Val)
|
rs755774068
|
|
|
NM_001277115.2(DNAH11):c.10599C>G (p.Ala3533=)
|
rs1789894042
|
|
|
NM_001277115.2(DNAH11):c.105C>A (p.Leu35=)
|
rs1176978999
|
|
|
NM_001277115.2(DNAH11):c.10608T>C (p.Asp3536=)
|
|
|
|
NM_001277115.2(DNAH11):c.10611C>A (p.Val3537=)
|
rs2128000792
|
|
|
NM_001277115.2(DNAH11):c.10611C>T (p.Val3537=)
|
rs2128000792
|
|
|
NM_001277115.2(DNAH11):c.10616T>G (p.Leu3539Ter)
|
rs2535362460
|
|
|
NM_001277115.2(DNAH11):c.10620T>A (p.Ile3540=)
|
rs1554284618
|
|
|
NM_001277115.2(DNAH11):c.10629C>T (p.Leu3543=)
|
rs533054368
|
|
|
NM_001277115.2(DNAH11):c.10639A>G (p.Ile3547Val)
|
rs1396104759
|
|
|
NM_001277115.2(DNAH11):c.10641A>T (p.Ile3547=)
|
rs368052967
|
|
|
NM_001277115.2(DNAH11):c.10645C>A (p.Pro3549Thr)
|
rs750882575
|
|
|
NM_001277115.2(DNAH11):c.10647A>G (p.Pro3549=)
|
|
|
|
NM_001277115.2(DNAH11):c.10653G>T (p.Leu3551=)
|
rs2535362642
|
|
|
NM_001277115.2(DNAH11):c.10659A>T (p.Pro3553=)
|
rs986491571
|
|
|
NM_001277115.2(DNAH11):c.10662A>G (p.Leu3554=)
|
rs2535362668
|
|
|
NM_001277115.2(DNAH11):c.1066_1067del (p.Gln356fs)
|
rs2534495724
|
|
|
NM_001277115.2(DNAH11):c.10673A>G (p.Asn3558Ser)
|
rs752231547
|
|
|
NM_001277115.2(DNAH11):c.10674C>T (p.Asn3558=)
|
rs1392635638
|
|
|
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.10691+10C>G
|
|
|
|
NM_001277115.2(DNAH11):c.10691+11T>C
|
rs746852471
|
|
|
NM_001277115.2(DNAH11):c.10691+12T>A
|
rs2535363014
|
|
|
NM_001277115.2(DNAH11):c.10691+12del
|
rs753765156
|
|
|
NM_001277115.2(DNAH11):c.10691+17T>A
|
|
|
|
NM_001277115.2(DNAH11):c.10691+19T>C
|
rs749596031
|
|
|
NM_001277115.2(DNAH11):c.10691+1G>T
|
rs1789901930
|
|
|
NM_001277115.2(DNAH11):c.10691+20T>C
|
rs2128000860
|
|
|
NM_001277115.2(DNAH11):c.10692-16G>T
|
rs886038456
|
|
|
NM_001277115.2(DNAH11):c.10692-18G>A
|
rs745632664
|
|
|
NM_001277115.2(DNAH11):c.10692-6G>A
|
rs372524632
|
|
|
NM_001277115.2(DNAH11):c.10692-6G>C
|
rs372524632
|
|
|
NM_001277115.2(DNAH11):c.10692-8C>T
|
rs1562578557
|
|
|
NM_001277115.2(DNAH11):c.106GAG[4] (p.Glu40del)
|
rs754826899
|
|
|
NM_001277115.2(DNAH11):c.106GAG[6] (p.Glu40_Asn41insGlu)
|
rs754826899
|
|
|
NM_001277115.2(DNAH11):c.10701G>T (p.Arg3567Ser)
|
rs375965591
|
|
|
NM_001277115.2(DNAH11):c.10710T>C (p.Asp3570=)
|
rs2535433633
|
|
|
NM_001277115.2(DNAH11):c.1071A>C (p.Thr357=)
|
rs1026108125
|
|
|
NM_001277115.2(DNAH11):c.1071A>G (p.Thr357=)
|
rs1026108125
|
|
|
NM_001277115.2(DNAH11):c.10727A>T (p.Asn3576Ile)
|
|
|
|
NM_001277115.2(DNAH11):c.1072C>A (p.Arg358Ser)
|
rs749125298
|
|
|
NM_001277115.2(DNAH11):c.1072C>T (p.Arg358Cys)
|
rs749125298
|
|
|
NM_001277115.2(DNAH11):c.10734C>T (p.Asn3578=)
|
rs2535433692
|
|
|
NM_001277115.2(DNAH11):c.10738C>T (p.Arg3580Cys)
|
rs72657399
|
|
|
NM_001277115.2(DNAH11):c.1073G>A (p.Arg358His)
|
rs1427393462
|
|
|
NM_001277115.2(DNAH11):c.10749T>C (p.Leu3583=)
|
rs2535433753
|
|
|
NM_001277115.2(DNAH11):c.10750C>T (p.His3584Tyr)
|
rs886062183
|
|
|
NM_001277115.2(DNAH11):c.10752C>T (p.His3584=)
|
rs1453916333
|
|
|
NM_001277115.2(DNAH11):c.10758A>T (p.Lys3586Asn)
|
rs779767325
|
|
|
NM_001277115.2(DNAH11):c.10759T>C (p.Leu3587=)
|
rs2535433802
|
|
|
NM_001277115.2(DNAH11):c.1075A>G (p.Ile359Val)
|
rs2534495831
|
|
|
NM_001277115.2(DNAH11):c.10761G>T (p.Leu3587Phe)
|
rs1467510424
|
|
|
NM_001277115.2(DNAH11):c.10762G>T (p.Ala3588Ser)
|
rs748428041
|
|
|
NM_001277115.2(DNAH11):c.10764A>G (p.Ala3588=)
|
rs2535433850
|
|
|
NM_001277115.2(DNAH11):c.10767T>A (p.Asn3589Lys)
|
rs2535433868
|
|
|
NM_001277115.2(DNAH11):c.10775A>G (p.Tyr3592Cys)
|
rs1060503062
|
|
|
NM_001277115.2(DNAH11):c.1077A>G (p.Ile359Met)
|
rs773604233
|
|
|
NM_001277115.2(DNAH11):c.10781C>A (p.Pro3594Gln)
|
rs770336845
|
|
|
NM_001277115.2(DNAH11):c.10781C>T (p.Pro3594Leu)
|
rs770336845
|
|
|
NM_001277115.2(DNAH11):c.10788A>G (p.Leu3596=)
|
rs2535433967
|
|
|
NM_001277115.2(DNAH11):c.10793C>G (p.Ala3598Gly)
|
rs911976426
|
|
|
NM_001277115.2(DNAH11):c.10793C>T (p.Ala3598Val)
|
|
|
|
NM_001277115.2(DNAH11):c.10797G>A (p.Gln3599=)
|
rs1434840281
|
|
|
NM_001277115.2(DNAH11):c.10800A>T (p.Thr3600=)
|
rs1199435797
|
|
|
NM_001277115.2(DNAH11):c.10801A>G (p.Thr3601Ala)
|
rs1418505953
|
|
|
NM_001277115.2(DNAH11):c.10804C>G (p.Leu3602Val)
|
rs1463915066
|
|
|
NM_001277115.2(DNAH11):c.10804C>T (p.Leu3602Phe)
|
rs1463915066
|
|
|
NM_001277115.2(DNAH11):c.10805_10806del (p.Leu3602fs)
|
rs2535434029
|
|
|
NM_001277115.2(DNAH11):c.10821C>T (p.Val3607=)
|
rs2535434121
|
|
|
NM_001277115.2(DNAH11):c.10829A>T (p.Asp3610Val)
|
rs373667589
|
|
|
NM_001277115.2(DNAH11):c.10833T>G (p.Gly3611=)
|
|
|
|
NM_001277115.2(DNAH11):c.1083C>A (p.Ile361=)
|
rs747276170
|
|
|
NM_001277115.2(DNAH11):c.10841_10844dup (p.Gln3615fs)
|
rs2535434198
|
|
|
NM_001277115.2(DNAH11):c.10845G>A (p.Gln3615=)
|
rs2535434212
|
|
|
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.10851G>A (p.Leu3617=)
|
rs1204611578
|
|
|
NM_001277115.2(DNAH11):c.10857G>A (p.Glu3619=)
|
rs1476798051
|
|
|
NM_001277115.2(DNAH11):c.10883del (p.Leu3628fs)
|
rs2128016880
|
|
|
NM_001277115.2(DNAH11):c.10896+12T>A
|
rs753735167
|
|
|
NM_001277115.2(DNAH11):c.10896+12del
|
rs2535434551
|
|
|
NM_001277115.2(DNAH11):c.10896+16T>A
|
rs2535434575
|
|
|
NM_001277115.2(DNAH11):c.10896+18A>C
|
rs371959142
|
|
|
NM_001277115.2(DNAH11):c.10897-17T>G
|
rs777407598
|
|
|
NM_001277115.2(DNAH11):c.10897-2A>T
|
rs2535463696
|
|
|
NM_001277115.2(DNAH11):c.10898T>A (p.Leu3633Ter)
|
|
|
|
NM_001277115.2(DNAH11):c.1089A>G (p.Pro363=)
|
rs1370285235
|
|
|
NM_001277115.2(DNAH11):c.10900G>T (p.Val3634Leu)
|
|
|
|
NM_001277115.2(DNAH11):c.10903T>C (p.Leu3635=)
|
rs2535463746
|
|
|
NM_001277115.2(DNAH11):c.10912C>T (p.His3638Tyr)
|
rs776111425
|
|
|
NM_001277115.2(DNAH11):c.10917A>G (p.Gln3639=)
|
rs775239040
|
|
|
NM_001277115.2(DNAH11):c.10920T>G (p.Asn3640Lys)
|
rs1583773726
|
|
|
NM_001277115.2(DNAH11):c.10938C>G (p.Leu3646=)
|
|
|
|
NM_001277115.2(DNAH11):c.10942T>C (p.Tyr3648His)
|
|
|
|
NM_001277115.2(DNAH11):c.10943A>G (p.Tyr3648Cys)
|
rs372903487
|
|
|
NM_001277115.2(DNAH11):c.10947G>A (p.Leu3649=)
|
rs2535463960
|
|
|
NM_001277115.2(DNAH11):c.10948G>A (p.Glu3650Lys)
|
rs1382616171
|
|
|
NM_001277115.2(DNAH11):c.10951G>T (p.Asp3651Tyr)
|
rs2535463980
|
|
|
NM_001277115.2(DNAH11):c.10957C>T (p.Leu3653Phe)
|
rs753925767
|
|
|
NM_001277115.2(DNAH11):c.10966C>T (p.Arg3656Cys)
|
rs755487851
|
|
|
NM_001277115.2(DNAH11):c.10976C>A (p.Ala3659Glu)
|
rs150631721
|
|
|
NM_001277115.2(DNAH11):c.1097A>T (p.His366Leu)
|
rs1220335751
|
|
|
NM_001277115.2(DNAH11):c.10995G>A (p.Leu3665=)
|
rs1237672981
|
|
|
NM_001277115.2(DNAH11):c.10995G>C (p.Leu3665=)
|
rs1237672981
|
|
|
NM_001277115.2(DNAH11):c.10del (p.Gln4fs)
|
rs1411593986
|
|
|
NM_001277115.2(DNAH11):c.11003C>T (p.Thr3668Ile)
|
rs745402723
|
|
|
NM_001277115.2(DNAH11):c.1100C>T (p.Thr367Ile)
|
|
|
|
NM_001277115.2(DNAH11):c.11010G>C (p.Leu3670=)
|
rs2535464395
|
|
|
NM_001277115.2(DNAH11):c.11013A>G (p.Val3671=)
|
|
|
|
NM_001277115.2(DNAH11):c.11026G>A (p.Ala3676Thr)
|
rs761019297
|
|
|
NM_001277115.2(DNAH11):c.11028A>T (p.Ala3676=)
|
|
|
|
NM_001277115.2(DNAH11):c.11040C>G (p.Thr3680=)
|
rs544445231
|
|
|
NM_001277115.2(DNAH11):c.11040C>T (p.Thr3680=)
|
rs544445231
|
|
|
NM_001277115.2(DNAH11):c.11043G>A (p.Val3681=)
|
rs2535464497
|
|
|
NM_001277115.2(DNAH11):c.1104C>T (p.Ile368=)
|
rs775801944
|
|
|
NM_001277115.2(DNAH11):c.11051_11052dup (p.Glu3685Ter)
|
rs1204692060
|
|
|
NM_001277115.2(DNAH11):c.11053G>T (p.Glu3685Ter)
|
rs2535464638
|
|
|
NM_001277115.2(DNAH11):c.11061+20C>T
|
rs1046243588
|
|
|
NM_001277115.2(DNAH11):c.11062-10C>T
|
rs1292310404
|
|
|
NM_001277115.2(DNAH11):c.11065A>G (p.Ile3689Val)
|
rs1554288889
|
|
|
NM_001277115.2(DNAH11):c.11067T>A (p.Ile3689=)
|
rs748038866
|
|
|
NM_001277115.2(DNAH11):c.11068G>A (p.Glu3690Lys)
|
|
|
|
NM_001277115.2(DNAH11):c.1108C>T (p.Leu370=)
|
rs189175047
|
|
|
NM_001277115.2(DNAH11):c.11094C>A (p.Ile3698=)
|
rs2535470153
|
|
|
NM_001277115.2(DNAH11):c.11096A>G (p.Asn3699Ser)
|
rs370458679
|
|
|
NM_001277115.2(DNAH11):c.11098G>A (p.Glu3700Lys)
|
rs768652615
|
|
|
NM_001277115.2(DNAH11):c.11103C>T (p.Ala3701=)
|
|
|
|
NM_001277115.2(DNAH11):c.11104C>A (p.Arg3702=)
|
rs375983999
|
|
|
NM_001277115.2(DNAH11):c.11107G>A (p.Glu3703Lys)
|
rs762297426
|
|
|
NM_001277115.2(DNAH11):c.11112T>A (p.Cys3704Ter)
|
rs2535470241
|
|
|
NM_001277115.2(DNAH11):c.11113T>C (p.Tyr3705His)
|
rs1562585554
|
|
|
NM_001277115.2(DNAH11):c.11117G>A (p.Arg3706Lys)
|
rs1562585559
|
|
|
NM_001277115.2(DNAH11):c.11126C>T (p.Ala3709Val)
|
rs1360195794
|
|
|
NM_001277115.2(DNAH11):c.11136A>T (p.Ala3712=)
|
rs758237171
|
|
|
NM_001277115.2(DNAH11):c.1113C>G (p.Ile371Met)
|
rs764398699
|
|
|
NM_001277115.2(DNAH11):c.1113C>T (p.Ile371=)
|
rs764398699
|
|
|
NM_001277115.2(DNAH11):c.11140C>T (p.Leu3714Phe)
|
|
|
|
NM_001277115.2(DNAH11):c.11143C>G (p.Leu3715Val)
|
|
|
|
NM_001277115.2(DNAH11):c.11154T>G (p.Val3718=)
|
|
|
|
NM_001277115.2(DNAH11):c.11164C>T (p.Leu3722Phe)
|
rs2128025450
|
|
|
NM_001277115.2(DNAH11):c.11165T>C (p.Leu3722Pro)
|
rs1060503064
|
|
|
NM_001277115.2(DNAH11):c.11173A>G (p.Ile3725Val)
|
rs749450764
|
|
|
NM_001277115.2(DNAH11):c.11173del (p.Ile3725fs)
|
|
|
|
NM_001277115.2(DNAH11):c.11176_11177del (p.Asn3726fs)
|
rs2535470506
|
|
|
NM_001277115.2(DNAH11):c.11178C>T (p.Asn3726=)
|
rs774414773
|
|
|
NM_001277115.2(DNAH11):c.11179C>T (p.Pro3727Ser)
|
rs748733879
|
|
|
NM_001277115.2(DNAH11):c.11181C>T (p.Pro3727=)
|
rs1307164299
|
|
|
NM_001277115.2(DNAH11):c.11182del (p.Leu3728fs)
|
|
|
|
NM_001277115.2(DNAH11):c.11186A>T (p.Tyr3729Phe)
|
rs727502970
|
|
|
NM_001277115.2(DNAH11):c.11188C>T (p.Gln3730Ter)
|
rs2128025477
|
|
|
NM_001277115.2(DNAH11):c.11196T>C (p.Ser3732=)
|
rs2535470659
|
|
|
NM_001277115.2(DNAH11):c.11198T>A (p.Leu3733Ter)
|
|
|
|
NM_001277115.2(DNAH11):c.11202+11A>G
|
rs1056235959
|
|
|
NM_001277115.2(DNAH11):c.11202+7C>A
|
rs73279826
|
|
|
NM_001277115.2(DNAH11):c.11202+7C>G
|
rs73279826
|
|
|
NM_001277115.2(DNAH11):c.11202+7_11202+9del
|
rs2535470694
|
|
|
NM_001277115.2(DNAH11):c.11203-12T>C
|
rs2535493683
|
|
|
NM_001277115.2(DNAH11):c.11203-14A>G
|
rs1430340551
|
|
|
NM_001277115.2(DNAH11):c.11203-1G>C
|
rs1783074775
|
|
|
NM_001277115.2(DNAH11):c.11203-20G>A
|
rs2535493647
|
|
|
NM_001277115.2(DNAH11):c.11210A>G (p.Asn3737Ser)
|
rs2535493764
|
|
|
NM_001277115.2(DNAH11):c.11211C>T (p.Asn3737=)
|
rs752898983
|
|
|
NM_001277115.2(DNAH11):c.11212G>A (p.Val3738Met)
|
rs777903360
|
|
|
NM_001277115.2(DNAH11):c.11220C>G (p.Phe3740Leu)
|
rs886062184
|
|
|
NM_001277115.2(DNAH11):c.11221C>T (p.His3741Tyr)
|
rs1783075514
|
|
|
NM_001277115.2(DNAH11):c.11229G>T (p.Ala3743=)
|
rs369957863
|
|
|
NM_001277115.2(DNAH11):c.11232C>G (p.Ile3744Met)
|
rs201120788
|
|
|
NM_001277115.2(DNAH11):c.11232C>T (p.Ile3744=)
|
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.11265A>T (p.Gly3755=)
|
|
|
|
NM_001277115.2(DNAH11):c.11272T>G (p.Ser3758Ala)
|
rs17145720
|
|
|
NM_001277115.2(DNAH11):c.11280G>A (p.Leu3760=)
|
rs1783078686
|
|
|
NM_001277115.2(DNAH11):c.11288_11289dup (p.Ile3764fs)
|
rs1562590250
|
|
|
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.11295C>G (p.Thr3765=)
|
rs2535494205
|
|
|
NM_001277115.2(DNAH11):c.11304C>G (p.Val3768=)
|
rs771504412
|
|
|
NM_001277115.2(DNAH11):c.11307C>T (p.Phe3769=)
|
rs1583784965
|
|
|
NM_001277115.2(DNAH11):c.11308C>T (p.Leu3770Phe)
|
|
|
|
NM_001277115.2(DNAH11):c.11316C>T (p.Thr3772=)
|
rs2128030845
|
|
|
NM_001277115.2(DNAH11):c.1131T>G (p.Phe377Leu)
|
rs2534496278
|
|
|
NM_001277115.2(DNAH11):c.11323G>A (p.Ala3775Thr)
|
|
|
|
NM_001277115.2(DNAH11):c.11337G>A (p.Lys3779=)
|
rs751035617
|
|
|
NM_001277115.2(DNAH11):c.11352C>T (p.Phe3784=)
|
rs553539918
|
|
|
NM_001277115.2(DNAH11):c.11354T>C (p.Leu3785Pro)
|
|
|
|
NM_001277115.2(DNAH11):c.11373+16A>G
|
rs2535494643
|
|
|
NM_001277115.2(DNAH11):c.11373+17C>T
|
rs563884334
|
|
|
NM_001277115.2(DNAH11):c.11373+1G>A
|
rs1175443221
|
|
|
NM_001277115.2(DNAH11):c.11373+20G>C
|
|
|
|
NM_001277115.2(DNAH11):c.11373+6_11373+8del
|
rs2535494588
|
|
|
NM_001277115.2(DNAH11):c.11373+7A>T
|
rs2535494598
|
|
|
NM_001277115.2(DNAH11):c.11374-11C>G
|
rs1229717211
|
|
|
NM_001277115.2(DNAH11):c.11374-6C>T
|
|
|
|
NM_001277115.2(DNAH11):c.11376T>C (p.Ile3792=)
|
rs1783196130
|
|
|
NM_001277115.2(DNAH11):c.11379G>A (p.Leu3793=)
|
rs1199865481
|
|
|
NM_001277115.2(DNAH11):c.11379G>T (p.Leu3793Phe)
|
rs1199865481
|
|
|
NM_001277115.2(DNAH11):c.11381T>A (p.Leu3794Ter)
|
rs878854435
|
|
|
NM_001277115.2(DNAH11):c.11389A>G (p.Lys3797Glu)
|
rs1171919910
|
|
|
NM_001277115.2(DNAH11):c.11391A>G (p.Lys3797=)
|
rs1373100816
|
|
|
NM_001277115.2(DNAH11):c.11396_11399del (p.Ile3799fs)
|
rs1245232070
|
|
|
NM_001277115.2(DNAH11):c.11399A>G (p.Asp3800Gly)
|
rs775391478
|
|
|
NM_001277115.2(DNAH11):c.1139C>T (p.Thr380Ile)
|
rs369736250
|
|
|
NM_001277115.2(DNAH11):c.11410T>C (p.Leu3804=)
|
rs760818521
|
|
|
NM_001277115.2(DNAH11):c.11425C>T (p.Arg3809Ter)
|
rs765632800
|
|
|
NM_001277115.2(DNAH11):c.11442C>G (p.His3814Gln)
|
rs370056975
|
|
|
NM_001277115.2(DNAH11):c.11443A>G (p.Thr3815Ala)
|
rs1583787940
|
|
|
NM_001277115.2(DNAH11):c.11446C>T (p.His3816Tyr)
|
rs745855957
|
|
|
NM_001277115.2(DNAH11):c.11448T>C (p.His3816=)
|
rs1783200503
|
|
|
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.11456C>A (p.Pro3819His)
|
|
|
|
NM_001277115.2(DNAH11):c.11489C>T (p.Ala3830Val)
|
rs1384924530
|
|
|
NM_001277115.2(DNAH11):c.11496+15_11496+16del
|
rs2535501495
|
|
|
NM_001277115.2(DNAH11):c.11496+1G>C
|
|
|
|
NM_001277115.2(DNAH11):c.11496+1G>T
|
rs2535501445
|
|
|
NM_001277115.2(DNAH11):c.11496+20T>C
|
rs2535501524
|
|
|
NM_001277115.2(DNAH11):c.11496+7T>G
|
rs1783202722
|
|
|
NM_001277115.2(DNAH11):c.11496+9G>A
|
rs970223266
|
|
|
NM_001277115.2(DNAH11):c.11497-16C>A
|
rs552675105
|
|
|
NM_001277115.2(DNAH11):c.11497-17T>G
|
rs771038816
|
|
|
NM_001277115.2(DNAH11):c.11497-20G>T
|
rs2535505452
|
|
|
NM_001277115.2(DNAH11):c.11497-9A>G
|
rs1783282975
|
|
|
NM_001277115.2(DNAH11):c.1149G>A (p.Arg383=)
|
rs1423617344
|
|
|
NM_001277115.2(DNAH11):c.11505C>T (p.Ala3835=)
|
rs762186712
|
|
|
NM_001277115.2(DNAH11):c.11508C>A (p.Val3836=)
|
rs199627577
|
|
|
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.11510T>A (p.Met3837Lys)
|
rs753898160
|
|
|
NM_001277115.2(DNAH11):c.11522G>A (p.Arg3841Gln)
|
rs1783284710
|
|
|
NM_001277115.2(DNAH11):c.11523A>G (p.Arg3841=)
|
rs2535505594
|
|
|
NM_001277115.2(DNAH11):c.11529A>T (p.Ile3843=)
|
rs778819474
|
|
|
NM_001277115.2(DNAH11):c.1152T>A (p.Val384=)
|
rs1162033530
|
|
|
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.11552C>T (p.Ala3851Val)
|
rs769928343
|
|
|
NM_001277115.2(DNAH11):c.11570G>A (p.Trp3857Ter)
|
rs2535505726
|
|
|
NM_001277115.2(DNAH11):c.11580C>A (p.Ser3860=)
|
rs376220318
|
|
|
NM_001277115.2(DNAH11):c.1159T>G (p.Leu387Val)
|
rs778901546
|
|
|
NM_001277115.2(DNAH11):c.11604A>T (p.Leu3868Phe)
|
rs753379503
|
|
|
NM_001277115.2(DNAH11):c.11610A>G (p.Gln3870=)
|
rs2535505857
|
|
|
NM_001277115.2(DNAH11):c.11619G>A (p.Lys3873=)
|
rs2535505893
|
|
|
NM_001277115.2(DNAH11):c.11628T>C (p.Ser3876=)
|
rs777616135
|
|
|
NM_001277115.2(DNAH11):c.11631A>G (p.Leu3877=)
|
rs746128570
|
|
|
NM_001277115.2(DNAH11):c.11658A>C (p.Ala3886=)
|
rs760456558
|
|
|
NM_001277115.2(DNAH11):c.1165C>G (p.Gln389Glu)
|
rs747944642
|
|
|
NM_001277115.2(DNAH11):c.11662C>A (p.Arg3888Ser)
|
|
|
|
NM_001277115.2(DNAH11):c.11663G>A (p.Arg3888His)
|
rs72658812
|
|
|
NM_001277115.2(DNAH11):c.11670C>A (p.Asp3890Glu)
|
rs548184198
|
|
|
NM_001277115.2(DNAH11):c.11674A>G (p.Met3892Val)
|
rs72658813
|
|
|
NM_001277115.2(DNAH11):c.11678C>A (p.Thr3893Lys)
|
rs763843747
|
|
|
NM_001277115.2(DNAH11):c.1167A>G (p.Gln389=)
|
rs2534496585
|
|
|
NM_001277115.2(DNAH11):c.11681A>G (p.Tyr3894Cys)
|
|
|
|
NM_001277115.2(DNAH11):c.11683G>C (p.Ala3895Pro)
|
rs1203128467
|
|
|
NM_001277115.2(DNAH11):c.1168G>A (p.Glu390Lys)
|
rs771348362
|
|
|
NM_001277115.2(DNAH11):c.11690+1G>A
|
rs2535506167
|
|
|
NM_001277115.2(DNAH11):c.11690+6G>A
|
rs2535506185
|
|
|
NM_001277115.2(DNAH11):c.11691-19A>T
|
rs4995598
|
|
|
NM_001277115.2(DNAH11):c.11691-6T>C
|
rs2128034916
|
|
|
NM_001277115.2(DNAH11):c.11691-8T>C
|
rs2534033608
|
|
|
NM_001277115.2(DNAH11):c.116_133dup (p.Glu44_Ala45insGluGluAsnGluGluGlu)
|
rs1409783994
|
|
|
NM_001277115.2(DNAH11):c.11700A>G (p.Val3900=)
|
|
|
|
NM_001277115.2(DNAH11):c.11706A>G (p.Glu3902=)
|
rs2534033681
|
|
|
NM_001277115.2(DNAH11):c.11709A>G (p.Lys3903=)
|
rs1234057162
|
|
|
NM_001277115.2(DNAH11):c.11710C>T (p.Leu3904=)
|
rs2534033696
|
|
|
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.11715T>C (p.Gly3905=)
|
rs2534033854
|
|
|
NM_001277115.2(DNAH11):c.11718G>A (p.Ala3906=)
|
rs755196801
|
|
|
NM_001277115.2(DNAH11):c.11718G>T (p.Ala3906=)
|
rs755196801
|
|
|
NM_001277115.2(DNAH11):c.11724T>C (p.Tyr3908=)
|
|
|
|
NM_001277115.2(DNAH11):c.11725G>A (p.Val3909Met)
|
rs886062185
|
|
|
NM_001277115.2(DNAH11):c.11725G>T (p.Val3909Leu)
|
rs886062185
|
|
|
NM_001277115.2(DNAH11):c.11727G>A (p.Val3909=)
|
rs2534033926
|
|
|
NM_001277115.2(DNAH11):c.11735C>G (p.Thr3912Ser)
|
rs372135937
|
|
|
NM_001277115.2(DNAH11):c.11736C>A (p.Thr3912=)
|
rs2534033973
|
|
|
NM_001277115.2(DNAH11):c.11738G>C (p.Arg3913Thr)
|
rs1583791395
|
|
|
NM_001277115.2(DNAH11):c.11739A>G (p.Arg3913=)
|
rs747501304
|
|
|
NM_001277115.2(DNAH11):c.1173T>C (p.Phe391=)
|
|
|
|
NM_001277115.2(DNAH11):c.11741T>A (p.Leu3914Ter)
|
|
|
|
NM_001277115.2(DNAH11):c.11745C>T (p.Asp3915=)
|
rs1038075614
|
|
|
NM_001277115.2(DNAH11):c.11748A>G (p.Leu3916=)
|
rs1783344479
|
|
|
NM_001277115.2(DNAH11):c.11749_11752del (p.Val3917fs)
|
rs765308785
|
|
|
NM_001277115.2(DNAH11):c.11756C>A (p.Ala3919Glu)
|
|
|
|
NM_001277115.2(DNAH11):c.11760C>A (p.Phe3920Leu)
|
rs183205457
|
|
|
NM_001277115.2(DNAH11):c.11760C>T (p.Phe3920=)
|
rs183205457
|
|
|
NM_001277115.2(DNAH11):c.11761G>T (p.Glu3921Ter)
|
rs774963422
|
|
|
NM_001277115.2(DNAH11):c.11767A>G (p.Ser3923Gly)
|
rs748834259
|
|
|
NM_001277115.2(DNAH11):c.11786T>C (p.Ile3929Thr)
|
rs886062186
|
|
|
NM_001277115.2(DNAH11):c.11790C>A (p.Phe3930Leu)
|
rs2534034298
|
|
|
NM_001277115.2(DNAH11):c.11799G>C (p.Leu3933=)
|
|
|
|
NM_001277115.2(DNAH11):c.11810T>C (p.Val3937Ala)
|
|
|
|
NM_001277115.2(DNAH11):c.11811A>C (p.Val3937=)
|
rs1288573843
|
|
|
NM_001277115.2(DNAH11):c.11820T>A (p.Leu3940=)
|
rs752798240
|
|
|
NM_001277115.2(DNAH11):c.11826C>T (p.Asp3942=)
|
rs2534034586
|
|
|
NM_001277115.2(DNAH11):c.11839+15G>A
|
rs2534034724
|
|
|
NM_001277115.2(DNAH11):c.11839+16G>T
|
rs1783349243
|
|
|
NM_001277115.2(DNAH11):c.11839+19C>G
|
rs746275154
|
|
|
NM_001277115.2(DNAH11):c.11839+1G>A
|
rs1783348812
|
|
|
NM_001277115.2(DNAH11):c.11839+20G>C
|
rs1248048550
|
|
|
NM_001277115.2(DNAH11):c.11840-19G>T
|
rs764315422
|
|
|
NM_001277115.2(DNAH11):c.11840-7C>T
|
rs2534038247
|
|
|
NM_001277115.2(DNAH11):c.11844A>T (p.Lys3948Asn)
|
rs1483834049
|
|
|
NM_001277115.2(DNAH11):c.11847A>C (p.Arg3949Ser)
|
rs2128035660
|
|
|
NM_001277115.2(DNAH11):c.11850T>G (p.Leu3950=)
|
rs2534038338
|
|
|
NM_001277115.2(DNAH11):c.11860A>G (p.Ile3954Val)
|
|
|
|
NM_001277115.2(DNAH11):c.11865C>G (p.Asp3955Glu)
|
|
|
|
NM_001277115.2(DNAH11):c.11867C>G (p.Ser3956Cys)
|
rs369636720
|
|
|
NM_001277115.2(DNAH11):c.11867C>T (p.Ser3956Phe)
|
|
|
|
NM_001277115.2(DNAH11):c.1186A>G (p.Ile396Val)
|
|
|
|
NM_001277115.2(DNAH11):c.11870G>C (p.Gly3957Ala)
|
rs1178242443
|
|
|
NM_001277115.2(DNAH11):c.11874A>G (p.Lys3958=)
|
rs756561500
|
|
|
NM_001277115.2(DNAH11):c.11876T>C (p.Phe3959Ser)
|
|
|
|
NM_001277115.2(DNAH11):c.11879A>C (p.His3960Pro)
|
rs2534038436
|
|
|
NM_001277115.2(DNAH11):c.11889T>C (p.Ser3963=)
|
rs2128035701
|
|
|
NM_001277115.2(DNAH11):c.11899G>A (p.Gly3967Ser)
|
|
|
|
NM_001277115.2(DNAH11):c.11905G>A (p.Glu3969Lys)
|
|
|
|
NM_001277115.2(DNAH11):c.11906A>G (p.Glu3969Gly)
|
rs1273080022
|
|
|
NM_001277115.2(DNAH11):c.11908A>T (p.Thr3970Ser)
|
rs974613459
|
|
|
NM_001277115.2(DNAH11):c.11910G>C (p.Thr3970=)
|
rs769030008
|
|
|
NM_001277115.2(DNAH11):c.11912T>A (p.Val3971Glu)
|
rs2534038629
|
|
|
NM_001277115.2(DNAH11):c.11924C>T (p.Ala3975Val)
|
rs374560534
|
|
|
NM_001277115.2(DNAH11):c.11926C>T (p.Leu3976=)
|
rs767479873
|
|
|
NM_001277115.2(DNAH11):c.11928G>A (p.Leu3976=)
|
rs2534038705
|
|
|
NM_001277115.2(DNAH11):c.11931G>A (p.Glu3977=)
|
rs2534038723
|
|
|
NM_001277115.2(DNAH11):c.11934A>G (p.Lys3978=)
|
rs2534038736
|
|
|
NM_001277115.2(DNAH11):c.1194+2T>C
|
rs2534496753
|
|
|
NM_001277115.2(DNAH11):c.1194+3A>G
|
rs1267498574
|
|
|
NM_001277115.2(DNAH11):c.1194+6_1194+8del
|
rs752748339
|
|
|
NM_001277115.2(DNAH11):c.1194+8G>A
|
rs751920270
|
|
|
NM_001277115.2(DNAH11):c.1194+9C>T
|
rs779102455
|
|
|
NM_001277115.2(DNAH11):c.11941A>G (p.Lys3981Glu)
|
|
|
|
NM_001277115.2(DNAH11):c.11944G>A (p.Gly3982Arg)
|
rs1783392241
|
|
|
NM_001277115.2(DNAH11):c.1194G>A (p.Gln398=)
|
rs2534496734
|
|
|
NM_001277115.2(DNAH11):c.1195-12A>G
|
rs752546389
|
|
|
NM_001277115.2(DNAH11):c.1195-17C>A
|
rs1783824462
|
|
|
NM_001277115.2(DNAH11):c.1195-18C>T
|
rs2534519068
|
|
|
NM_001277115.2(DNAH11):c.1195-19C>A
|
rs563310283
|
|
|
NM_001277115.2(DNAH11):c.1195-19C>T
|
|
|
|
NM_001277115.2(DNAH11):c.1195-5C>T
|
rs2534519096
|
|
|
NM_001277115.2(DNAH11):c.1195-6T>C
|
rs2534519090
|
|
|
NM_001277115.2(DNAH11):c.11951A>C (p.His3984Pro)
|
rs1783392419
|
|
|
NM_001277115.2(DNAH11):c.11952C>T (p.His3984=)
|
rs1368615388
|
|
|
NM_001277115.2(DNAH11):c.11956G>A (p.Val3986Ile)
|
rs1431407809
|
|
|
NM_001277115.2(DNAH11):c.11965C>G (p.Gln3989Glu)
|
rs2534038850
|
|
|
NM_001277115.2(DNAH11):c.11967+17A>G
|
|
|
|
NM_001277115.2(DNAH11):c.11967+19G>C
|
rs2534039195
|
|
|
NM_001277115.2(DNAH11):c.11967+20G>T
|
rs2534039201
|
|
|
NM_001277115.2(DNAH11):c.11967+5G>A
|
rs878854436
|
|
|
NM_001277115.2(DNAH11):c.11968-14A>G
|
|
|
|
NM_001277115.2(DNAH11):c.11968-17A>T
|
rs1290940807
|
|
|
NM_001277115.2(DNAH11):c.11968-18C>A
|
rs182921787
|
|
|
NM_001277115.2(DNAH11):c.11968-4T>C
|
|
|
|
NM_001277115.2(DNAH11):c.11968-9A>G
|
rs1018931263
|
|
|
NM_001277115.2(DNAH11):c.1197A>C (p.Ala399=)
|
rs2534519133
|
|
|
NM_001277115.2(DNAH11):c.1197A>G (p.Ala399=)
|
rs2534519133
|
|
|
NM_001277115.2(DNAH11):c.11985C>G (p.Ala3995=)
|
rs1414082926
|
|
|
NM_001277115.2(DNAH11):c.11988G>A (p.Lys3996=)
|
rs2534055743
|
|
|
NM_001277115.2(DNAH11):c.11991G>C (p.Trp3997Cys)
|
|
|
|
NM_001277115.2(DNAH11):c.11992C>T (p.Leu3998=)
|
|
|
|
NM_001277115.2(DNAH11):c.11994A>G (p.Leu3998=)
|
|
|
|
NM_001277115.2(DNAH11):c.11996G>C (p.Gly3999Ala)
|
rs1435156846
|
|
|
NM_001277115.2(DNAH11):c.11999C>A (p.Thr4000Asn)
|
rs1783570244
|
|
|
NM_001277115.2(DNAH11):c.11999C>T (p.Thr4000Ile)
|
rs1783570244
|
|
|
NM_001277115.2(DNAH11):c.11_22dup (p.Ala7_Arg8insGlnValAlaAla)
|
rs1554305648
|
|
|
NM_001277115.2(DNAH11):c.12018A>G (p.Glu4006=)
|
rs2534055851
|
|
|
NM_001277115.2(DNAH11):c.12020G>C (p.Arg4007Thr)
|
rs977512902
|
|
|
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.12026G>C (p.Ser4009Thr)
|
rs745785193
|
|
|
NM_001277115.2(DNAH11):c.12027C>T (p.Ser4009=)
|
rs2534055911
|
|
|
NM_001277115.2(DNAH11):c.12031G>A (p.Gly4011Arg)
|
|
|
|
NM_001277115.2(DNAH11):c.12046T>C (p.Tyr4016His)
|
rs747067327
|
|
|
NM_001277115.2(DNAH11):c.12052G>A (p.Val4018Ile)
|
rs578153138
|
|
|
NM_001277115.2(DNAH11):c.12066T>G (p.Ala4022=)
|
rs1060504815
|
|
|
NM_001277115.2(DNAH11):c.12069G>A (p.Glu4023=)
|
rs371991187
|
|
|
NM_001277115.2(DNAH11):c.12069G>C (p.Glu4023Asp)
|
|
|
|
NM_001277115.2(DNAH11):c.12075A>G (p.Ala4025=)
|
rs2534056284
|
|
|
NM_001277115.2(DNAH11):c.1207C>T (p.Leu403Phe)
|
|
|
|
NM_001277115.2(DNAH11):c.12085G>C (p.Asp4029His)
|
|
|
|
NM_001277115.2(DNAH11):c.12088G>T (p.Glu4030Ter)
|
rs763657340
|
|
|
NM_001277115.2(DNAH11):c.12092A>G (p.His4031Arg)
|
rs751165212
|
|
|
NM_001277115.2(DNAH11):c.12116A>C (p.Glu4039Ala)
|
rs756099132
|
|
|
NM_001277115.2(DNAH11):c.1211C>T (p.Ser404Leu)
|
rs770023215
|
|
|
NM_001277115.2(DNAH11):c.12123C>T (p.Ser4041=)
|
rs1783575230
|
|
|
NM_001277115.2(DNAH11):c.12132C>A (p.Ile4044=)
|
rs1375468559
|
|
|
NM_001277115.2(DNAH11):c.12134C>G (p.Thr4045Ser)
|
|
|
|
NM_001277115.2(DNAH11):c.12135T>C (p.Thr4045=)
|
rs2128038712
|
|
|
NM_001277115.2(DNAH11):c.1213C>T (p.Pro405Ser)
|
|
|
|
NM_001277115.2(DNAH11):c.12142C>T (p.Pro4048Ser)
|
rs1783575829
|
|
|
NM_001277115.2(DNAH11):c.12143C>G (p.Pro4048Arg)
|
|
|
|
NM_001277115.2(DNAH11):c.12151G>C (p.Gly4051Arg)
|
|
|
|
NM_001277115.2(DNAH11):c.12153G>C (p.Gly4051=)
|
rs1332954066
|
|
|
NM_001277115.2(DNAH11):c.12157C>T (p.Leu4053=)
|
rs962800687
|
|
|
NM_001277115.2(DNAH11):c.12159G>A (p.Leu4053=)
|
rs1275434177
|
|
|
NM_001277115.2(DNAH11):c.12159G>T (p.Leu4053=)
|
rs1275434177
|
|
|
NM_001277115.2(DNAH11):c.1215T>C (p.Pro405=)
|
rs2534519232
|
|
|
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.12168G>A (p.Leu4056=)
|
rs1783577185
|
|
|
NM_001277115.2(DNAH11):c.12168G>C (p.Leu4056Phe)
|
rs1783577185
|
|
|
NM_001277115.2(DNAH11):c.12171T>C (p.His4057=)
|
rs1783577350
|
|
|
NM_001277115.2(DNAH11):c.12177C>G (p.Ala4059=)
|
rs2534056737
|
|
|
NM_001277115.2(DNAH11):c.12180G>A (p.Leu4060=)
|
rs2128038749
|
|
|
NM_001277115.2(DNAH11):c.12188T>G (p.Phe4063Cys)
|
rs1288167085
|
|
|
NM_001277115.2(DNAH11):c.12195+10C>A
|
rs578249356
|
|
|
NM_001277115.2(DNAH11):c.12195+10C>G
|
rs578249356
|
|
|
NM_001277115.2(DNAH11):c.12195+18G>C
|
rs1783579030
|
|
|
NM_001277115.2(DNAH11):c.12195+1G>A
|
rs2534056842
|
|
|
NM_001277115.2(DNAH11):c.12196-12C>T
|
rs111541378
|
|
|
NM_001277115.2(DNAH11):c.12196-14C>T
|
rs374568211
|
|
|
NM_001277115.2(DNAH11):c.12196-17C>G
|
rs780481997
|
|
|
NM_001277115.2(DNAH11):c.12196-2A>G
|
rs1554291973
|
|
|
NM_001277115.2(DNAH11):c.12196-4C>A
|
rs772933789
|
|
|
NM_001277115.2(DNAH11):c.12196-6del
|
rs768711937
|
|
|
NM_001277115.2(DNAH11):c.12196-6dup
|
rs768711937
|
|
|
NM_001277115.2(DNAH11):c.1219G>T (p.Asp407Tyr)
|
|
|
|
NM_001277115.2(DNAH11):c.121_129dup (p.Asn41_Glu43dup)
|
rs1583467731
|
|
|
NM_001277115.2(DNAH11):c.121_132dup (p.Glu44_Ala45insAsnGluGluGlu)
|
|
|
|
NM_001277115.2(DNAH11):c.12208A>G (p.Ile4070Val)
|
rs1483176675
|
|
|
NM_001277115.2(DNAH11):c.12211dup (p.Cys4071fs)
|
rs774304164
|
|
|
NM_001277115.2(DNAH11):c.12213C>A (p.Cys4071Ter)
|
rs1424739250
|
|
|
NM_001277115.2(DNAH11):c.12216C>T (p.Ser4072=)
|
rs2534081636
|
|
|
NM_001277115.2(DNAH11):c.1221C>T (p.Asp407=)
|
rs1180768493
|
|
|
NM_001277115.2(DNAH11):c.12222G>A (p.Glu4074=)
|
rs2534081662
|
|
|
NM_001277115.2(DNAH11):c.12232A>T (p.Lys4078Ter)
|
rs1583806864
|
|
|
NM_001277115.2(DNAH11):c.12242T>G (p.Leu4081Arg)
|
rs1783890260
|
|
|
NM_001277115.2(DNAH11):c.12249T>C (p.Ser4083=)
|
rs533689890
|
|
|
NM_001277115.2(DNAH11):c.12252C>G (p.Leu4084=)
|
rs2534081822
|
|
|
NM_001277115.2(DNAH11):c.12258C>T (p.Tyr4086=)
|
rs780151355
|
|
|
NM_001277115.2(DNAH11):c.12262C>T (p.His4088Tyr)
|
rs1229709690
|
|
|
NM_001277115.2(DNAH11):c.12267C>G (p.Ala4089=)
|
rs779248595
|
|
|
NM_001277115.2(DNAH11):c.12267C>T (p.Ala4089=)
|
rs779248595
|
|
|
NM_001277115.2(DNAH11):c.12269G>T (p.Cys4090Phe)
|
rs1258273877
|
|
|
NM_001277115.2(DNAH11):c.12273T>A (p.Val4091=)
|
rs2534081916
|
|
|
NM_001277115.2(DNAH11):c.12284T>C (p.Leu4095Pro)
|
|
|
|
NM_001277115.2(DNAH11):c.12288G>T (p.Arg4096Ser)
|
rs72658820
|
|
|
NM_001277115.2(DNAH11):c.12293G>A (p.Gly4098Asp)
|
rs1583806980
|
|
|
NM_001277115.2(DNAH11):c.12294C>T (p.Gly4098=)
|
rs1783893853
|
|
|
NM_001277115.2(DNAH11):c.12296C>T (p.Pro4099Leu)
|
rs573509767
|
|
|
NM_001277115.2(DNAH11):c.12310C>T (p.Arg4104Ter)
|
rs775230957
|
|
|
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.12333A>G (p.Gly4111=)
|
rs2128042289
|
|
|
NM_001277115.2(DNAH11):c.12336C>G (p.Asp4112Glu)
|
rs779489580
|
|
|
NM_001277115.2(DNAH11):c.12339C>T (p.Leu4113=)
|
rs2534082208
|
|
|
NM_001277115.2(DNAH11):c.1233A>G (p.Gly411=)
|
rs886062172
|
|
|
NM_001277115.2(DNAH11):c.12344T>C (p.Ile4115Thr)
|
rs371418299
|
|
|
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.12369C>A (p.Tyr4123Ter)
|
|
|
|
NM_001277115.2(DNAH11):c.1236A>G (p.Glu412=)
|
rs2534519380
|
|
|
NM_001277115.2(DNAH11):c.12371T>C (p.Leu4124Ser)
|
rs1388130536
|
|
|
NM_001277115.2(DNAH11):c.12373G>C (p.Glu4125Gln)
|
|
|
|
NM_001277115.2(DNAH11):c.12375G>A (p.Glu4125=)
|
rs886062187
|
|
|
NM_001277115.2(DNAH11):c.12375G>C (p.Glu4125Asp)
|
rs886062187
|
|
|
NM_001277115.2(DNAH11):c.12387+18A>C
|
rs774153301
|
|
|
NM_001277115.2(DNAH11):c.12387+18A>G
|
rs774153301
|
|
|
NM_001277115.2(DNAH11):c.12387+4A>C
|
rs1783901380
|
|
|
NM_001277115.2(DNAH11):c.12387+7G>A
|
rs2534082481
|
|
|
NM_001277115.2(DNAH11):c.12388-12T>C
|
rs2534092808
|
|
|
NM_001277115.2(DNAH11):c.12388-15T>C
|
rs1264197964
|
|
|
NM_001277115.2(DNAH11):c.12388-20T>G
|
rs2534092787
|
|
|
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.12432T>C (p.Tyr4144=)
|
rs1156243441
|
|
|
NM_001277115.2(DNAH11):c.12441C>T (p.His4147=)
|
rs2534093089
|
|
|
NM_001277115.2(DNAH11):c.12447A>C (p.Thr4149=)
|
rs1784042155
|
|
|
NM_001277115.2(DNAH11):c.12456G>T (p.Trp4152Cys)
|
rs1339128502
|
|
|
NM_001277115.2(DNAH11):c.12465A>G (p.Lys4155=)
|
rs2534093191
|
|
|
NM_001277115.2(DNAH11):c.12466del (p.Leu4156fs)
|
rs1554292398
|
|
|
NM_001277115.2(DNAH11):c.12475G>T (p.Val4159Leu)
|
rs771944678
|
|
|
NM_001277115.2(DNAH11):c.12492_12493inv (p.Met4165Val)
|
|
|
|
NM_001277115.2(DNAH11):c.12499C>G (p.Pro4167Ala)
|
rs763179225
|
|
|
NM_001277115.2(DNAH11):c.1249C>T (p.Leu417=)
|
rs1783826920
|
|
|
NM_001277115.2(DNAH11):c.12507+12G>T
|
rs1784045146
|
|
|
NM_001277115.2(DNAH11):c.12507+16A>T
|
rs575025491
|
|
|
NM_001277115.2(DNAH11):c.12507+7C>T
|
|
|
|
NM_001277115.2(DNAH11):c.12509C>G (p.Thr4170Ser)
|
rs12537531
|
|
|
NM_001277115.2(DNAH11):c.12509C>T (p.Thr4170Ile)
|
rs12537531
|
|
|
NM_001277115.2(DNAH11):c.12549A>C (p.Pro4183=)
|
rs886062188
|
|
|
NM_001277115.2(DNAH11):c.12556C>T (p.Leu4186=)
|
|
|
|
NM_001277115.2(DNAH11):c.12562T>G (p.Tyr4188Asp)
|
|
|
|
NM_001277115.2(DNAH11):c.12566C>T (p.Ala4189Val)
|
rs1784359387
|
|
|
NM_001277115.2(DNAH11):c.12572A>T (p.Tyr4191Phe)
|
rs1326776234
|
|
|
NM_001277115.2(DNAH11):c.12592A>C (p.Met4198Leu)
|
rs1213707481
|
|
|
NM_001277115.2(DNAH11):c.12592A>G (p.Met4198Val)
|
|
|
|
NM_001277115.2(DNAH11):c.12593T>C (p.Met4198Thr)
|
|
|
|
NM_001277115.2(DNAH11):c.12593T>G (p.Met4198Arg)
|
rs772179807
|
|
|
NM_001277115.2(DNAH11):c.125AGG[2] (p.Glu44del)
|
rs1782659889
|
|
|
NM_001277115.2(DNAH11):c.12600T>A (p.Pro4200=)
|
rs1784360625
|
|
|
NM_001277115.2(DNAH11):c.12600dup (p.Pro4201fs)
|
|
|
|
NM_001277115.2(DNAH11):c.12609C>T (p.Ser4203=)
|
rs2534122005
|
|
|
NM_001277115.2(DNAH11):c.1260G>T (p.Val420=)
|
rs1583489655
|
|
|
NM_001277115.2(DNAH11):c.12612G>A (p.Pro4204=)
|
rs73683005
|
|
|
NM_001277115.2(DNAH11):c.12614C>T (p.Ala4205Val)
|
|
|
|
NM_001277115.2(DNAH11):c.12616C>T (p.Leu4206=)
|
rs777004813
|
|
|
NM_001277115.2(DNAH11):c.12619T>C (p.Tyr4207His)
|
rs1562607173
|
|
|
NM_001277115.2(DNAH11):c.12659T>G (p.Val4220Gly)
|
rs1259891591
|
|
|
NM_001277115.2(DNAH11):c.12666C>A (p.Ser4222=)
|
rs2534122499
|
|
|
NM_001277115.2(DNAH11):c.12669C>T (p.Asn4223=)
|
rs1554293255
|
|
|
NM_001277115.2(DNAH11):c.12673C>G (p.Leu4225Val)
|
rs777887934
|
|
|
NM_001277115.2(DNAH11):c.12675C>T (p.Leu4225=)
|
rs1364246155
|
|
|
NM_001277115.2(DNAH11):c.12676T>C (p.Phe4226Leu)
|
rs771461584
|
|
|
NM_001277115.2(DNAH11):c.12685T>C (p.Leu4229=)
|
rs1376924636
|
|
|
NM_001277115.2(DNAH11):c.12691G>A (p.Glu4231Lys)
|
|
|
|
NM_001277115.2(DNAH11):c.12708T>C (p.Asn4236=)
|
rs775042712
|
|
|
NM_001277115.2(DNAH11):c.12710C>T (p.Ala4237Val)
|
rs1009706176
|
|
|
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.12724G>T (p.Glu4242Ter)
|
rs1408664815
|
|
|
NM_001277115.2(DNAH11):c.12735G>T (p.Gln4245His)
|
rs1396708463
|
|
|
NM_001277115.2(DNAH11):c.12737C>G (p.Ser4246Cys)
|
rs758657792
|
|
|
NM_001277115.2(DNAH11):c.12745del (p.Glu4249fs)
|
rs2534123110
|
|
|
NM_001277115.2(DNAH11):c.12749A>C (p.Lys4250Thr)
|
|
|
|
NM_001277115.2(DNAH11):c.12750+13T>C
|
rs1468982075
|
|
|
NM_001277115.2(DNAH11):c.12750+16T>C
|
rs2534123215
|
|
|
NM_001277115.2(DNAH11):c.12751-10C>A
|
|
|
|
NM_001277115.2(DNAH11):c.12751-11A>G
|
rs2534129767
|
|
|
NM_001277115.2(DNAH11):c.12751-14G>C
|
rs2534129748
|
|
|
NM_001277115.2(DNAH11):c.12751-14_12751-13del
|
rs1215427066
|
|
|
NM_001277115.2(DNAH11):c.12751-19T>G
|
rs750452367
|
|
|
NM_001277115.2(DNAH11):c.12751-1G>A
|
|
|
|
NM_001277115.2(DNAH11):c.12757A>G (p.Asn4253Asp)
|
rs1274989305
|
|
|
NM_001277115.2(DNAH11):c.12775T>C (p.Leu4259=)
|
rs2534129891
|
|
|
NM_001277115.2(DNAH11):c.12788C>T (p.Pro4263Leu)
|
rs1583820467
|
|
|
NM_001277115.2(DNAH11):c.1278C>T (p.Ile426=)
|
rs1280498334
|
|
|
NM_001277115.2(DNAH11):c.12791A>G (p.Glu4264Gly)
|
rs1784443582
|
|
|
NM_001277115.2(DNAH11):c.127G>A (p.Glu43Lys)
|
rs1583467748
|
|
|
NM_001277115.2(DNAH11):c.127G>C (p.Glu43Gln)
|
rs1583467748
|
|
|
NM_001277115.2(DNAH11):c.127G>T (p.Glu43Ter)
|
|
|
|
NM_001277115.2(DNAH11):c.12804G>A (p.Met4268Ile)
|
rs1283821643
|
|
|
NM_001277115.2(DNAH11):c.12810G>A (p.Glu4270=)
|
rs1235238365
|
|
|
NM_001277115.2(DNAH11):c.12811A>C (p.Ile4271Leu)
|
rs774188308
|
|
|
NM_001277115.2(DNAH11):c.12813A>G (p.Ile4271Met)
|
rs1422905532
|
|
|
NM_001277115.2(DNAH11):c.12817C>G (p.Gln4273Glu)
|
rs2534130101
|
|
|
NM_001277115.2(DNAH11):c.12819A>G (p.Gln4273=)
|
rs747797186
|
|
|
NM_001277115.2(DNAH11):c.12824dup (p.Asn4275fs)
|
rs751061873
|
|
|
NM_001277115.2(DNAH11):c.12825T>A (p.Asn4275Lys)
|
rs772790420
|
|
|
NM_001277115.2(DNAH11):c.12829A>G (p.Asn4277Asp)
|
rs370912972
|
|
|
NM_001277115.2(DNAH11):c.12831T>C (p.Asn4277=)
|
|
|
|
NM_001277115.2(DNAH11):c.12833G>A (p.Arg4278Lys)
|
|
|
|
NM_001277115.2(DNAH11):c.12836G>T (p.Ser4279Ile)
|
rs1784445668
|
|
|
NM_001277115.2(DNAH11):c.12838C>T (p.Pro4280Ser)
|
|
|
|
NM_001277115.2(DNAH11):c.12840A>C (p.Pro4280=)
|
rs765016952
|
|
|
NM_001277115.2(DNAH11):c.12840A>T (p.Pro4280=)
|
rs765016952
|
|
|
NM_001277115.2(DNAH11):c.12850del (p.Val4284fs)
|
|
|
|
NM_001277115.2(DNAH11):c.12871_12872del (p.Arg4291fs)
|
rs1373906090
|
|
|
NM_001277115.2(DNAH11):c.12889C>T (p.Arg4297Trp)
|
|
|
|
NM_001277115.2(DNAH11):c.12903A>T (p.Ile4301=)
|
rs1212654539
|
|
|
NM_001277115.2(DNAH11):c.1290C>T (p.Phe430=)
|
rs765276431
|
|
|
NM_001277115.2(DNAH11):c.12921C>T (p.Asp4307=)
|
rs1178978411
|
|
|
NM_001277115.2(DNAH11):c.12933+11_12933+12del
|
rs2534130846
|
|
|
NM_001277115.2(DNAH11):c.12933+14G>A
|
rs1393710990
|
|
|
NM_001277115.2(DNAH11):c.12933+14G>T
|
rs1393710990
|
|
|
NM_001277115.2(DNAH11):c.12933+16G>T
|
rs2534130936
|
|
|
NM_001277115.2(DNAH11):c.12933+17G>T
|
rs1784450029
|
|
|
NM_001277115.2(DNAH11):c.12933+18C>G
|
rs2534130954
|
|
|
NM_001277115.2(DNAH11):c.12933+20A>G
|
rs1395966393
|
|
|
NM_001277115.2(DNAH11):c.12934-12dup
|
rs767204430
|
|
|
NM_001277115.2(DNAH11):c.12934-1G>T
|
rs1554293484
|
|
|
NM_001277115.2(DNAH11):c.12934-2del
|
rs1784452809
|
|
|
NM_001277115.2(DNAH11):c.12934-5G>C
|
rs1460692653
|
|
|
NM_001277115.2(DNAH11):c.12934-5G>T
|
rs1460692653
|
|
|
NM_001277115.2(DNAH11):c.12934-8C>T
|
|
|
|
NM_001277115.2(DNAH11):c.1293A>C (p.Lys431Asn)
|
rs900712695
|
|
|
NM_001277115.2(DNAH11):c.12940T>C (p.Leu4314=)
|
rs2534131316
|
|
|
NM_001277115.2(DNAH11):c.12942G>A (p.Leu4314=)
|
rs2534131328
|
|
|
NM_001277115.2(DNAH11):c.12942G>T (p.Leu4314Phe)
|
rs2534131328
|
|
|
NM_001277115.2(DNAH11):c.12944del (p.Ala4315fs)
|
rs2534131357
|
|
|
NM_001277115.2(DNAH11):c.12966C>G (p.Ala4322=)
|
|
|
|
NM_001277115.2(DNAH11):c.1296C>A (p.Asn432Lys)
|
rs1783828997
|
|
|
NM_001277115.2(DNAH11):c.12986A>T (p.Tyr4329Phe)
|
rs1562608827
|
|
|
NM_001277115.2(DNAH11):c.1298C>T (p.Ser433Phe)
|
rs1783829075
|
|
|
NM_001277115.2(DNAH11):c.12993G>A (p.Thr4331=)
|
|
|
|
NM_001277115.2(DNAH11):c.12997C>T (p.Pro4333Ser)
|
rs753970328
|
|
|
NM_001277115.2(DNAH11):c.1299C>T (p.Ser433=)
|
|
|
|
NM_001277115.2(DNAH11):c.13002C>T (p.Asp4334=)
|
|
|
|
NM_001277115.2(DNAH11):c.13005T>C (p.Thr4335=)
|
rs2534131706
|
|
|
NM_001277115.2(DNAH11):c.13008G>A (p.Trp4336Ter)
|
rs1162823375
|
|
|
NM_001277115.2(DNAH11):c.13016T>C (p.Leu4339Pro)
|
rs753230841
|
|
|
NM_001277115.2(DNAH11):c.13017G>C (p.Leu4339=)
|
rs1784456775
|
|
|
NM_001277115.2(DNAH11):c.13023T>C (p.Tyr4341=)
|
|
|
|
NM_001277115.2(DNAH11):c.13039C>T (p.Leu4347=)
|
|
|
|
NM_001277115.2(DNAH11):c.13049+12C>T
|
|
|
|
NM_001277115.2(DNAH11):c.13049+12dup
|
|
|
|
NM_001277115.2(DNAH11):c.13049+13A>C
|
rs2534131983
|
|
|
NM_001277115.2(DNAH11):c.13049+15C>G
|
rs200860431
|
|
|
NM_001277115.2(DNAH11):c.13049+18C>G
|
rs2534132008
|
|
|
NM_001277115.2(DNAH11):c.13049+20C>T
|
rs948937242
|
|
|
NM_001277115.2(DNAH11):c.13049+3A>G
|
|
|
|
NM_001277115.2(DNAH11):c.1304T>A (p.Phe435Tyr)
|
rs1477335949
|
|
|
NM_001277115.2(DNAH11):c.13050-13T>G
|
rs2534148937
|
|
|
NM_001277115.2(DNAH11):c.13050-14C>G
|
|
|
|
NM_001277115.2(DNAH11):c.13050-14C>T
|
rs2534148928
|
|
|
NM_001277115.2(DNAH11):c.13050-18C>T
|
rs755689080
|
|
|
NM_001277115.2(DNAH11):c.13050-19C>T
|
rs2128051752
|
|
|
NM_001277115.2(DNAH11):c.13050-8T>C
|
|
|
|
NM_001277115.2(DNAH11):c.13050-9A>G
|
rs1209069973
|
|
|
NM_001277115.2(DNAH11):c.13050-9A>T
|
rs1209069973
|
|
|
NM_001277115.2(DNAH11):c.13053C>T (p.Phe4351=)
|
rs372123549
|
|
|
NM_001277115.2(DNAH11):c.13055A>G (p.Asn4352Ser)
|
rs777030468
|
|
|
NM_001277115.2(DNAH11):c.13059CCT[2] (p.Leu4356del)
|
|
|
|
NM_001277115.2(DNAH11):c.13065C>T (p.Leu4355=)
|
rs770052684
|
|
|
NM_001277115.2(DNAH11):c.13069C>T (p.Arg4357Ter)
|
rs775720394
|
|
|
NM_001277115.2(DNAH11):c.13070G>A (p.Arg4357Gln)
|
rs369549112
|
|
|
NM_001277115.2(DNAH11):c.13075C>G (p.Arg4359Gly)
|
rs774903187
|
|
|
NM_001277115.2(DNAH11):c.13075C>T (p.Arg4359Ter)
|
rs774903187
|
|
|
NM_001277115.2(DNAH11):c.13084G>A (p.Asp4362Asn)
|
rs765948270
|
|
|
NM_001277115.2(DNAH11):c.13084G>C (p.Asp4362His)
|
rs765948270
|
|
|
NM_001277115.2(DNAH11):c.13088C>T (p.Thr4363Ile)
|
rs778763544
|
|
|
NM_001277115.2(DNAH11):c.13096C>G (p.Gln4366Glu)
|
rs748084362
|
|
|
NM_001277115.2(DNAH11):c.13096C>T (p.Gln4366Ter)
|
rs748084362
|
|
|
NM_001277115.2(DNAH11):c.13098A>G (p.Gln4366=)
|
rs966033435
|
|
|
NM_001277115.2(DNAH11):c.130G>T (p.Glu44Ter)
|
rs1203659423
|
|
|
NM_001277115.2(DNAH11):c.13100A>G (p.Asp4367Gly)
|
rs758190100
|
|
|
NM_001277115.2(DNAH11):c.13108C>A (p.Leu4370Ile)
|
rs746738432
|
|
|
NM_001277115.2(DNAH11):c.13112C>A (p.Pro4371Gln)
|
rs1238638659
|
|
|
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.13113G>T (p.Pro4371=)
|
rs148707462
|
|
|
NM_001277115.2(DNAH11):c.13115C>T (p.Ala4372Val)
|
rs1191466340
|
|
|
NM_001277115.2(DNAH11):c.13119C>A (p.Val4373=)
|
rs774789390
|
|
|
NM_001277115.2(DNAH11):c.13119C>T (p.Val4373=)
|
rs774789390
|
|
|
NM_001277115.2(DNAH11):c.1311T>C (p.Tyr437=)
|
rs559143773
|
|
|
NM_001277115.2(DNAH11):c.13120G>A (p.Val4374Met)
|
rs560018723
|
|
|
NM_001277115.2(DNAH11):c.13122G>A (p.Val4374=)
|
rs1784658492
|
|
|
NM_001277115.2(DNAH11):c.13122G>T (p.Val4374=)
|
rs1784658492
|
|
|
NM_001277115.2(DNAH11):c.13128C>A (p.Leu4376=)
|
rs56333627
|
|
|
NM_001277115.2(DNAH11):c.13128C>G (p.Leu4376=)
|
rs56333627
|
|
|
NM_001277115.2(DNAH11):c.13128C>T (p.Leu4376=)
|
rs56333627
|
|
|
NM_001277115.2(DNAH11):c.1312A>G (p.Arg438Gly)
|
rs2534519866
|
|
|
NM_001277115.2(DNAH11):c.13131C>T (p.Ser4377=)
|
rs1394327426
|
|
|
NM_001277115.2(DNAH11):c.13134C>G (p.Gly4378=)
|
rs752630551
|
|
|
NM_001277115.2(DNAH11):c.13134C>T (p.Gly4378=)
|
rs752630551
|
|
|
NM_001277115.2(DNAH11):c.1313G>C (p.Arg438Thr)
|
rs1246017758
|
|
|
NM_001277115.2(DNAH11):c.13155C>T (p.Phe4385=)
|
rs1784659873
|
|
|
NM_001277115.2(DNAH11):c.13162+12C>G
|
rs191638909
|
|
|
NM_001277115.2(DNAH11):c.13162+14C>T
|
rs748111578
|
|
|
NM_001277115.2(DNAH11):c.13162+18_13162+22dup
|
rs1382924483
|
|
|
NM_001277115.2(DNAH11):c.13162+1G>C
|
|
|
|
NM_001277115.2(DNAH11):c.13162+8C>G
|
rs369240485
|
|
|
NM_001277115.2(DNAH11):c.13162+8C>T
|
rs369240485
|
|
|
NM_001277115.2(DNAH11):c.13163-10_13163-7dup
|
rs528000635
|
|
|
NM_001277115.2(DNAH11):c.13163-11T>C
|
rs1351139321
|
|
|
NM_001277115.2(DNAH11):c.13163-12A>G
|
rs562596273
|
|
|
NM_001277115.2(DNAH11):c.13163-12A>T
|
rs562596273
|
|
|
NM_001277115.2(DNAH11):c.13163-13TA[3]
|
rs1784694442
|
|
|
NM_001277115.2(DNAH11):c.13163-15G>C
|
|
|
|
NM_001277115.2(DNAH11):c.13163-15dup
|
rs2534153737
|
|
|
NM_001277115.2(DNAH11):c.13163-17_13163-7del
|
rs748219827
|
|
|
NM_001277115.2(DNAH11):c.13163-21_13163-10del
|
rs779015328
|
|
|
NM_001277115.2(DNAH11):c.13163-27_13163-11del
|
|
|
|
NM_001277115.2(DNAH11):c.13163-6C>T
|
rs769511492
|
|
|
NM_001277115.2(DNAH11):c.13163C>T (p.Ala4388Val)
|
rs1060503058
|
|
|
NM_001277115.2(DNAH11):c.13165_13168dup (p.Met4390fs)
|
rs766922403
|
|
|
NM_001277115.2(DNAH11):c.13167C>A (p.Ile4389=)
|
rs774489385
|
|
|
NM_001277115.2(DNAH11):c.13175C>G (p.Thr4392Arg)
|
rs181603431
|
|
|
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.13179G>A (p.Met4393Ile)
|
rs777813597
|
|
|
NM_001277115.2(DNAH11):c.13183C>A (p.Arg4395=)
|
rs757784023
|
|
|
NM_001277115.2(DNAH11):c.13184G>A (p.Arg4395Gln)
|
rs368249392
|
|
|
NM_001277115.2(DNAH11):c.13184G>T (p.Arg4395Leu)
|
rs368249392
|
|
|
NM_001277115.2(DNAH11):c.13186A>C (p.Lys4396Gln)
|
rs569092902
|
|
|
NM_001277115.2(DNAH11):c.13199C>T (p.Pro4400Leu)
|
rs2128052334
|
|
|
NM_001277115.2(DNAH11):c.131A>C (p.Glu44Ala)
|
rs750407994
|
|
|
NM_001277115.2(DNAH11):c.13206T>A (p.Asp4402Glu)
|
rs1420692526
|
|
|
NM_001277115.2(DNAH11):c.1320del (p.Lys440fs)
|
rs1562668233
|
|
|
NM_001277115.2(DNAH11):c.1320dup (p.Leu441fs)
|
rs1562668233
|
|
|
NM_001277115.2(DNAH11):c.13211C>A (p.Thr4404Lys)
|
rs768366183
|
|
|
NM_001277115.2(DNAH11):c.13212G>C (p.Thr4404=)
|
rs774004689
|
|
|
NM_001277115.2(DNAH11):c.13223C>A (p.Ala4408Asp)
|
|
|
|
NM_001277115.2(DNAH11):c.13229T>C (p.Val4410Ala)
|
rs752970913
|
|
|
NM_001277115.2(DNAH11):c.13232C>T (p.Thr4411Ile)
|
rs1345239815
|
|
|
NM_001277115.2(DNAH11):c.13239_13240dup (p.Thr4414fs)
|
|
|
|
NM_001277115.2(DNAH11):c.13239_13240insT (p.Thr4414fs)
|
rs2534154521
|
|
|
NM_001277115.2(DNAH11):c.13240dup (p.Thr4414fs)
|
rs759332741
|
|
|
NM_001277115.2(DNAH11):c.13242_13245del (p.Glu4416fs)
|
rs1278777268
|
|
|
NM_001277115.2(DNAH11):c.13247A>T (p.Glu4416Val)
|
rs2128052383
|
|
|
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.13263G>C (p.Pro4421=)
|
rs72658834
|
|
|
NM_001277115.2(DNAH11):c.13263_13265del (p.Pro4422del)
|
rs1784704513
|
|
|
NM_001277115.2(DNAH11):c.13266_13272dup (p.Gly4425fs)
|
rs2128052407
|
|
|
NM_001277115.2(DNAH11):c.13277_13298dup (p.Met4433fs)
|
rs2534154891
|
|
|
NM_001277115.2(DNAH11):c.13278A>G (p.Ala4426=)
|
rs773266815
|
|
|
NM_001277115.2(DNAH11):c.13279_13286dup (p.Gly4430fs)
|
rs2534154885
|
|
|
NM_001277115.2(DNAH11):c.13281C>A (p.Tyr4427Ter)
|
rs760516093
|
|
|
NM_001277115.2(DNAH11):c.13281_13299dup (p.Glu4434fs)
|
|
|
|
NM_001277115.2(DNAH11):c.13287C>T (p.His4429=)
|
rs780416768
|
|
|
NM_001277115.2(DNAH11):c.13288G>C (p.Gly4430Arg)
|
rs1275074212
|
|
|
NM_001277115.2(DNAH11):c.13296C>T (p.Phe4432=)
|
rs2534155061
|
|
|
NM_001277115.2(DNAH11):c.13303+11_13303+12dup
|
rs773887617
|
|
|
NM_001277115.2(DNAH11):c.13303+12C>T
|
rs2534155270
|
|
|
NM_001277115.2(DNAH11):c.13303+12dup
|
rs773887617
|
|
|
NM_001277115.2(DNAH11):c.13303+16G>T
|
rs2534155292
|
|
|
NM_001277115.2(DNAH11):c.13303+18G>A
|
|
|
|
NM_001277115.2(DNAH11):c.13303+1G>T
|
rs2534155120
|
|
|
NM_001277115.2(DNAH11):c.13303+20_13303+23dup
|
rs761369220
|
|
|
NM_001277115.2(DNAH11):c.13303+3_13303+6dup
|
rs2534155156
|
|
|
NM_001277115.2(DNAH11):c.13303+9C>T
|
rs750461108
|
|
|
NM_001277115.2(DNAH11):c.13303G>T (p.Gly4435Cys)
|
rs1044815255
|
|
|
NM_001277115.2(DNAH11):c.13304-13G>C
|
rs1784788409
|
|
|
NM_001277115.2(DNAH11):c.13304-13_13304-12del
|
rs778005196
|
|
|
NM_001277115.2(DNAH11):c.13304-18_13304-17del
|
rs1784787799
|
|
|
NM_001277115.2(DNAH11):c.13304-19C>A
|
rs141951506
|
|
|
NM_001277115.2(DNAH11):c.13304-19C>G
|
rs141951506
|
|
|
NM_001277115.2(DNAH11):c.13304-19C>T
|
rs141951506
|
|
|
NM_001277115.2(DNAH11):c.13304-20C>T
|
rs755459710
|
|
|
NM_001277115.2(DNAH11):c.13304-6C>T
|
rs745795906
|
|
|
NM_001277115.2(DNAH11):c.13304-8dup
|
rs747171868
|
|
|
NM_001277115.2(DNAH11):c.13316A>G (p.Asp4439Gly)
|
rs2534163446
|
|
|
NM_001277115.2(DNAH11):c.13319C>T (p.Thr4440Ile)
|
rs760133325
|
|
|
NM_001277115.2(DNAH11):c.13320C>T (p.Thr4440=)
|
rs1562614172
|
|
|
NM_001277115.2(DNAH11):c.13320_13350dup (p.Lys4451delinsProSerArgAsnHisCysTer)
|
rs2534163477
|
|
|
NM_001277115.2(DNAH11):c.13320_13416dup (p.Lys4473delinsProSerArgAsnHisCysTer)
|
rs1784790883
|
|
|
NM_001277115.2(DNAH11):c.13321C>T (p.Gln4441Ter)
|
rs1261703349
|
|
|
NM_001277115.2(DNAH11):c.13322_13335dup (p.Val4446fs)
|
rs2534163550
|
|
|
NM_001277115.2(DNAH11):c.13325C>G (p.Ala4442Gly)
|
rs576958149
|
|
|
NM_001277115.2(DNAH11):c.13325C>T (p.Ala4442Val)
|
|
|
|
NM_001277115.2(DNAH11):c.13328G>A (p.Gly4443Glu)
|
rs1375156859
|
|
|
NM_001277115.2(DNAH11):c.13329A>T (p.Gly4443=)
|
rs1330104653
|
|
|
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.1335T>C (p.Phe445=)
|
rs376831401
|
|
|
NM_001277115.2(DNAH11):c.13364_13415dup (p.Lys4473fs)
|
rs2128053357
|
|
|
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.13380_13383dup (p.Ala4462fs)
|
rs2534164126
|
|
|
NM_001277115.2(DNAH11):c.13380_13387dup (p.Lys4463fs)
|
|
|
|
NM_001277115.2(DNAH11):c.13383T>C (p.Phe4461=)
|
rs2534164143
|
|
|
NM_001277115.2(DNAH11):c.13389A>G (p.Lys4463=)
|
rs759644499
|
|
|
NM_001277115.2(DNAH11):c.13395C>G (p.Thr4465=)
|
rs763264851
|
|
|
NM_001277115.2(DNAH11):c.13396C>T (p.Pro4466Ser)
|
rs1784797805
|
|
|
NM_001277115.2(DNAH11):c.13396_13426dup (p.Tyr4476fs)
|
rs2534164296
|
|
|
NM_001277115.2(DNAH11):c.13398C>A (p.Pro4466=)
|
rs72658836
|
|
|
NM_001277115.2(DNAH11):c.13406_13409del (p.Arg4469fs)
|
rs2534164388
|
|
|
NM_001277115.2(DNAH11):c.13409_13424del (p.Gln4470fs)
|
rs2534164401
|
|
|
NM_001277115.2(DNAH11):c.13410A>G (p.Gln4470=)
|
rs2128053405
|
|
|
NM_001277115.2(DNAH11):c.13411_13418del (p.Glu4471fs)
|
|
|
|
NM_001277115.2(DNAH11):c.13411_13423del (p.Glu4471fs)
|
rs2534164505
|
|
|
NM_001277115.2(DNAH11):c.13416C>T (p.Thr4472=)
|
rs2534165022
|
|
|
NM_001277115.2(DNAH11):c.13416_13428del (p.Lys4473fs)
|
rs2534165011
|
|
|
NM_001277115.2(DNAH11):c.13416_13449dup (p.Lys4484delinsGlnThrAspLeuArgValProCysValTer)
|
rs2534165019
|
|
|
NM_001277115.2(DNAH11):c.13416del (p.Lys4473fs)
|
rs2534165015
|
|
|
NM_001277115.2(DNAH11):c.13418_13421dup (p.Tyr4476fs)
|
rs1784799612
|
|
|
NM_001277115.2(DNAH11):c.13420C>G (p.Gln4474Glu)
|
rs1467862243
|
|
|
NM_001277115.2(DNAH11):c.13420C>T (p.Gln4474Ter)
|
rs1467862243
|
|
|
NM_001277115.2(DNAH11):c.13421_13453del (p.Gln4474_Lys4484del)
|
rs771508476
|
|
|
NM_001277115.2(DNAH11):c.13424_13456del (p.Thr4475_Leu4485del)
|
rs1554294443
|
|
|
NM_001277115.2(DNAH11):c.13425C>T (p.Thr4475=)
|
rs187353983
|
|
|
NM_001277115.2(DNAH11):c.13429G>T (p.Glu4477Ter)
|
rs551275210
|
|
|
NM_001277115.2(DNAH11):c.13429_13449dup (p.Thr4483_Lys4484insGluCysProValTyrArgThr)
|
rs2534165208
|
|
|
NM_001277115.2(DNAH11):c.13439T>C (p.Val4480Ala)
|
rs2534165333
|
|
|
NM_001277115.2(DNAH11):c.13439_13449dup (p.Lys4484fs)
|
rs2534165348
|
|
|
NM_001277115.2(DNAH11):c.13444A>G (p.Arg4482Gly)
|
rs1784802858
|
|
|
NM_001277115.2(DNAH11):c.13446A>G (p.Arg4482=)
|
rs2534165394
|
|
|
NM_001277115.2(DNAH11):c.13449C>A (p.Thr4483=)
|
rs1562614588
|
|
|
NM_001277115.2(DNAH11):c.13451_13452dup (p.Leu4485fs)
|
rs1450623027
|
|
|
NM_001277115.2(DNAH11):c.13464C>A (p.Pro4488=)
|
rs1489261617
|
|
|
NM_001277115.2(DNAH11):c.13464C>G (p.Pro4488=)
|
|
|
|
NM_001277115.2(DNAH11):c.13467C>T (p.Ser4489=)
|
rs1017117001
|
|
|
NM_001277115.2(DNAH11):c.13472_*75dup (p.Ile4491_Ter4517=)
|
rs1784806477
|
|
|
NM_001277115.2(DNAH11):c.13473C>G (p.Ile4491Met)
|
rs1784806581
|
|
|
NM_001277115.2(DNAH11):c.13473_*75dup (p.Tyr4490_Ter4517=)
|
rs878854439
|
|
|
NM_001277115.2(DNAH11):c.13475_13504dup (p.Lys4501_Thr4502insArgThrPheArgLeuLysSerGluGluLys)
|
rs2534165883
|
|
|
NM_001277115.2(DNAH11):c.13476dup (p.Thr4493fs)
|
rs2534165871
|
|
|
NM_001277115.2(DNAH11):c.13480_13492dup (p.Ser4498fs)
|
rs2128053495
|
|
|
NM_001277115.2(DNAH11):c.13482C>G (p.Phe4494Leu)
|
rs370038827
|
|
|
NM_001277115.2(DNAH11):c.13484G>A (p.Arg4495Lys)
|
|
|
|
NM_001277115.2(DNAH11):c.13484_13496dup (p.Glu4500fs)
|
|
|
|
NM_001277115.2(DNAH11):c.13485G>A (p.Arg4495=)
|
rs2534166024
|
|
|
NM_001277115.2(DNAH11):c.13494_13500del (p.Ser4498fs)
|
rs1212535211
|
|
|
NM_001277115.2(DNAH11):c.13500_13504del (p.Glu4500fs)
|
rs72658839
|
|
|
NM_001277115.2(DNAH11):c.13501_13502insGGACTGCAAAATGGGTTCTGGCTGGAGTGGCTCTGCTTCTAGAAGCGTAAGGTAACACTGGCATTCCTCTAGCCTCTGCTGGAGTGCAGTGAGGATTTTCTAGCATGTTGCTGCACTGTTCCCATTCTGGACCTTCAGGCTGAAGAGCGAAGAGA (p.Lys4501delinsArgThrAlaLysTrpValLeuAlaGlyValAlaLeuLeuLeuGluAlaTer)
|
rs1554294459
|
|
|
NM_001277115.2(DNAH11):c.13512_13525del (p.Trp4505fs)
|
rs2128053554
|
|
|
NM_001277115.2(DNAH11):c.13515_13526dup (p.Val4510_Ala4511insLeuAlaGlyVal)
|
rs1254126467
|
|
|
NM_001277115.2(DNAH11):c.13521G>A (p.Leu4507=)
|
rs2534166653
|
|
|
NM_001277115.2(DNAH11):c.13524T>C (p.Ala4508=)
|
rs753227490
|
|
|
NM_001277115.2(DNAH11):c.13527_13547dup (p.Ala4516_Ter4517insValAlaLeuLeuLeuGluAla)
|
rs1784815114
|
|
|
NM_001277115.2(DNAH11):c.13530G>A (p.Val4510=)
|
rs1784815250
|
|
|
NM_001277115.2(DNAH11):c.13531G>A (p.Ala4511Thr)
|
rs1562614917
|
|
|
NM_001277115.2(DNAH11):c.13537C>A (p.Leu4513Ile)
|
rs2534166875
|
|
|
NM_001277115.2(DNAH11):c.13539T>G (p.Leu4513=)
|
rs2534166889
|
|
|
NM_001277115.2(DNAH11):c.1357T>C (p.Trp453Arg)
|
rs1783831153
|
|
|
NM_001277115.2(DNAH11):c.1358G>A (p.Trp453Ter)
|
rs749372718
|
|
|
NM_001277115.2(DNAH11):c.1366C>G (p.Gln456Glu)
|
rs1345508201
|
|
|
NM_001277115.2(DNAH11):c.1367del (p.Gln456fs)
|
rs2534520167
|
|
|
NM_001277115.2(DNAH11):c.136G>C (p.Ala46Pro)
|
rs918116615
|
|
|
NM_001277115.2(DNAH11):c.1371T>G (p.Ser457=)
|
rs2534520181
|
|
|
NM_001277115.2(DNAH11):c.1372C>T (p.His458Tyr)
|
rs1783831610
|
|
|
NM_001277115.2(DNAH11):c.1375C>G (p.Leu459Val)
|
rs547976947
|
|
|
NM_001277115.2(DNAH11):c.1377G>C (p.Leu459=)
|
rs779431268
|
|
|
NM_001277115.2(DNAH11):c.1378G>A (p.Val460Met)
|
rs1343867768
|
|
|
NM_001277115.2(DNAH11):c.138G>A (p.Ala46=)
|
rs945514775
|
|
|
NM_001277115.2(DNAH11):c.1401T>C (p.Phe467=)
|
rs2534520329
|
|
|
NM_001277115.2(DNAH11):c.1408C>A (p.Arg470Ser)
|
rs374144841
|
|
|
NM_001277115.2(DNAH11):c.1414A>G (p.Ile472Val)
|
rs1783833988
|
|
|
NM_001277115.2(DNAH11):c.1415T>C (p.Ile472Thr)
|
rs1434007821
|
|
|
NM_001277115.2(DNAH11):c.141C>T (p.Ala47=)
|
|
|
|
NM_001277115.2(DNAH11):c.1423G>C (p.Glu475Gln)
|
|
|
|
NM_001277115.2(DNAH11):c.1425+12T>C
|
rs1353709566
|
|
|
NM_001277115.2(DNAH11):c.1425+14G>A
|
rs550567868
|
|
|
NM_001277115.2(DNAH11):c.1425+14G>T
|
rs550567868
|
|
|
NM_001277115.2(DNAH11):c.1425+19T>G
|
rs2534520626
|
|
|
NM_001277115.2(DNAH11):c.1425+23_1425+26del
|
rs2534520619
|
|
|
NM_001277115.2(DNAH11):c.1425+7_1425+8del
|
rs2534520552
|
|
|
NM_001277115.2(DNAH11):c.1425G>A (p.Glu475=)
|
rs2128436389
|
|
|
NM_001277115.2(DNAH11):c.1426-16T>C
|
rs897910985
|
|
|
NM_001277115.2(DNAH11):c.1426-2A>G
|
rs1064794014
|
|
|
NM_001277115.2(DNAH11):c.1426-7dup
|
rs758412964
|
|
|
NM_001277115.2(DNAH11):c.1427A>G (p.Asp476Gly)
|
rs1028226024
|
|
|
NM_001277115.2(DNAH11):c.1433T>C (p.Phe478Ser)
|
rs2534526532
|
|
|
NM_001277115.2(DNAH11):c.1434T>C (p.Phe478=)
|
rs1239549911
|
|
|
NM_001277115.2(DNAH11):c.1438A>C (p.Thr480Pro)
|
rs763939941
|
|
|
NM_001277115.2(DNAH11):c.1438A>G (p.Thr480Ala)
|
rs763939941
|
|
|
NM_001277115.2(DNAH11):c.1442C>T (p.Thr481Ile)
|
rs1583491099
|
|
|
NM_001277115.2(DNAH11):c.1451T>C (p.Phe484Ser)
|
rs750200662
|
|
|
NM_001277115.2(DNAH11):c.1456A>G (p.Lys486Glu)
|
rs1399550737
|
|
|
NM_001277115.2(DNAH11):c.1475_1593+946del
|
|
|
|
NM_001277115.2(DNAH11):c.1479T>C (p.Gly493=)
|
rs2534526679
|
|
|
NM_001277115.2(DNAH11):c.1481G>A (p.Gly494Asp)
|
|
|
|
NM_001277115.2(DNAH11):c.1482dup (p.Thr495fs)
|
rs2534526700
|
|
|
NM_001277115.2(DNAH11):c.1486A>T (p.Lys496Ter)
|
rs769637393
|
|
|
NM_001277115.2(DNAH11):c.148G>A (p.Ala50Thr)
|
rs1178165787
|
|
|
NM_001277115.2(DNAH11):c.1512C>A (p.Val504=)
|
rs1783905254
|
|
|
NM_001277115.2(DNAH11):c.1516G>A (p.Glu506Lys)
|
rs760400011
|
|
|
NM_001277115.2(DNAH11):c.1516G>C (p.Glu506Gln)
|
rs760400011
|
|
|
NM_001277115.2(DNAH11):c.152G>A (p.Arg51Gln)
|
rs753634502
|
|
|
NM_001277115.2(DNAH11):c.1533T>G (p.Leu511=)
|
rs1416169650
|
|
|
NM_001277115.2(DNAH11):c.1534A>C (p.Met512Leu)
|
rs1783906157
|
|
|
NM_001277115.2(DNAH11):c.1535T>C (p.Met512Thr)
|
rs72655984
|
|
|
NM_001277115.2(DNAH11):c.1543T>C (p.Cys515Arg)
|
rs368512197
|
|
|
NM_001277115.2(DNAH11):c.1544_1545del (p.Leu514_Cys515insTer)
|
rs777360011
|
|
|
NM_001277115.2(DNAH11):c.1550T>A (p.Leu517His)
|
rs757836884
|
|
|
NM_001277115.2(DNAH11):c.1558C>T (p.Gln520Ter)
|
rs540157623
|
|
|
NM_001277115.2(DNAH11):c.1569T>C (p.Tyr523=)
|
rs778543485
|
|
|
NM_001277115.2(DNAH11):c.1572C>A (p.Asp524Glu)
|
|
|
|
NM_001277115.2(DNAH11):c.1572C>G (p.Asp524Glu)
|
rs747607035
|
|
|
NM_001277115.2(DNAH11):c.1579G>A (p.Asp527Asn)
|
rs1783909176
|
|
|
NM_001277115.2(DNAH11):c.1581T>C (p.Asp527=)
|
rs1783909266
|
|
|
NM_001277115.2(DNAH11):c.1593+10T>A
|
|
|
|
NM_001277115.2(DNAH11):c.1593+11_1593+16dup
|
rs751102100
|
|
|
NM_001277115.2(DNAH11):c.1593+17G>A
|
rs897942112
|
|
|
NM_001277115.2(DNAH11):c.1593+1G>A
|
rs1554312483
|
|
|
NM_001277115.2(DNAH11):c.1593+9G>T
|
rs763282552
|
|
|
NM_001277115.2(DNAH11):c.1594-20T>C
|
rs2534563533
|
|
|
NM_001277115.2(DNAH11):c.1609T>G (p.Tyr537Asp)
|
rs1784321972
|
|
|
NM_001277115.2(DNAH11):c.1610A>C (p.Tyr537Ser)
|
rs2534563628
|
|
|
NM_001277115.2(DNAH11):c.1615G>A (p.Ala539Thr)
|
rs1378720248
|
|
|
NM_001277115.2(DNAH11):c.1618T>C (p.Phe540Leu)
|
rs1226617556
|
|
|
NM_001277115.2(DNAH11):c.1623G>A (p.Lys541=)
|
rs2534563690
|
|
|
NM_001277115.2(DNAH11):c.1633_1634del (p.Leu545fs)
|
rs756829484
|
|
|
NM_001277115.2(DNAH11):c.1643A>G (p.Asp548Gly)
|
rs374191991
|
|
|
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.1664T>C (p.Ile555Thr)
|
rs377625927
|
|
|
NM_001277115.2(DNAH11):c.1674T>A (p.Ala558=)
|
rs558471451
|
|
|
NM_001277115.2(DNAH11):c.1687A>T (p.Asn563Tyr)
|
|
|
|
NM_001277115.2(DNAH11):c.1689T>C (p.Asn563=)
|
rs2534563995
|
|
|
NM_001277115.2(DNAH11):c.1692C>G (p.Gly564=)
|
rs751008165
|
|
|
NM_001277115.2(DNAH11):c.1708A>G (p.Lys570Glu)
|
rs2128440942
|
|
|
NM_001277115.2(DNAH11):c.170C>G (p.Ala57Gly)
|
rs2534409960
|
|
|
NM_001277115.2(DNAH11):c.1710+16G>C
|
rs2534564126
|
|
|
NM_001277115.2(DNAH11):c.1710+18T>G
|
|
|
|
NM_001277115.2(DNAH11):c.1710+1G>C
|
rs1784326790
|
|
|
NM_001277115.2(DNAH11):c.1711-16A>G
|
rs745751395
|
|
|
NM_001277115.2(DNAH11):c.1711-20C>G
|
rs2534583154
|
|
|
NM_001277115.2(DNAH11):c.1711-5T>C
|
rs2534583211
|
|
|
NM_001277115.2(DNAH11):c.1736_1764del (p.Leu579fs)
|
rs780948319
|
|
|
NM_001277115.2(DNAH11):c.1737A>G (p.Leu579=)
|
rs1583505343
|
|
|
NM_001277115.2(DNAH11):c.174G>A (p.Arg58=)
|
rs2534409985
|
|
|
NM_001277115.2(DNAH11):c.175G>A (p.Val59Met)
|
rs1284215510
|
|
|
NM_001277115.2(DNAH11):c.1764C>T (p.Phe588=)
|
rs2534583582
|
|
|
NM_001277115.2(DNAH11):c.1771C>A (p.His591Asn)
|
rs1583505393
|
|
|
NM_001277115.2(DNAH11):c.1778G>A (p.Ser593Asn)
|
rs754774362
|
|
|
NM_001277115.2(DNAH11):c.1778G>C (p.Ser593Thr)
|
rs754774362
|
|
|
NM_001277115.2(DNAH11):c.1785dup (p.Val596fs)
|
rs1333280926
|
|
|
NM_001277115.2(DNAH11):c.178C>T (p.Arg60Cys)
|
rs1256071786
|
|
|
NM_001277115.2(DNAH11):c.1790A>C (p.His597Pro)
|
rs1207221088
|
|
|
NM_001277115.2(DNAH11):c.1790A>T (p.His597Leu)
|
rs1207221088
|
|
|
NM_001277115.2(DNAH11):c.1800T>C (p.Asn600=)
|
rs2128442662
|
|
|
NM_001277115.2(DNAH11):c.1804G>T (p.Glu602Ter)
|
rs2534583808
|
|
|
NM_001277115.2(DNAH11):c.180C>T (p.Arg60=)
|
rs781089233
|
|
|
NM_001277115.2(DNAH11):c.1822C>G (p.Gln608Glu)
|
rs2534583899
|
|
|
NM_001277115.2(DNAH11):c.1839C>G (p.His613Gln)
|
rs1784540612
|
|
|
NM_001277115.2(DNAH11):c.1846C>T (p.Gln616Ter)
|
rs774665658
|
|
|
NM_001277115.2(DNAH11):c.1848+11G>A
|
rs749908281
|
|
|
NM_001277115.2(DNAH11):c.1848+18T>A
|
|
|
|
NM_001277115.2(DNAH11):c.1848+20G>A
|
rs2534584170
|
|
|
NM_001277115.2(DNAH11):c.1849-12A>T
|
rs748480671
|
|
|
NM_001277115.2(DNAH11):c.1849-19C>T
|
|
|
|
NM_001277115.2(DNAH11):c.1849-7C>T
|
rs1245092225
|
|
|
NM_001277115.2(DNAH11):c.1850T>C (p.Ile617Thr)
|
rs2534585575
|
|
|
NM_001277115.2(DNAH11):c.1851T>A (p.Ile617=)
|
|
|
|
NM_001277115.2(DNAH11):c.1857T>A (p.Cys619Ter)
|
rs1361512116
|
|
|
NM_001277115.2(DNAH11):c.1857_1878dup (p.Asn627delinsTrpSerCysSerSerTer)
|
rs2534585612
|
|
|
NM_001277115.2(DNAH11):c.1860T>G (p.Gly620=)
|
rs2534585632
|
|
|
NM_001277115.2(DNAH11):c.1862A>G (p.His621Arg)
|
|
|
|
NM_001277115.2(DNAH11):c.1882A>G (p.Met628Val)
|
|
|
|
NM_001277115.2(DNAH11):c.1886del (p.Pro629fs)
|
rs2534585759
|
|
|
NM_001277115.2(DNAH11):c.1887A>G (p.Pro629=)
|
rs748483853
|
|
|
NM_001277115.2(DNAH11):c.1888T>C (p.Phe630Leu)
|
rs1583505808
|
|
|
NM_001277115.2(DNAH11):c.1903A>G (p.Met635Val)
|
rs776349734
|
|
|
NM_001277115.2(DNAH11):c.1915_1916inv (p.Gln639Trp)
|
|
|
|
NM_001277115.2(DNAH11):c.1916A>T (p.Gln639Leu)
|
rs12670130
|
|
|
NM_001277115.2(DNAH11):c.1916_1917delinsGT (p.Gln639Arg)
|
rs2534585955
|
|
|
NM_001277115.2(DNAH11):c.1930C>A (p.Arg644=)
|
rs1228238442
|
|
|
NM_001277115.2(DNAH11):c.1937A>T (p.Gln646Leu)
|
|
|
|
NM_001277115.2(DNAH11):c.1949C>T (p.Ser650Leu)
|
rs755002843
|
|
|
NM_001277115.2(DNAH11):c.194G>A (p.Arg65His)
|
|
|
|
NM_001277115.2(DNAH11):c.1958C>T (p.Ala653Val)
|
|
|
|
NM_001277115.2(DNAH11):c.1961C>T (p.Ser654Phe)
|
rs62441683
|
|
|
NM_001277115.2(DNAH11):c.1967G>C (p.Arg656Pro)
|
rs745389124
|
|
|
NM_001277115.2(DNAH11):c.1973+16T>A
|
|
|
|
NM_001277115.2(DNAH11):c.1973+18G>A
|
rs2534586353
|
|
|
NM_001277115.2(DNAH11):c.1973+19G>C
|
rs2534586362
|
|
|
NM_001277115.2(DNAH11):c.1973+7A>G
|
rs1016305000
|
|
|
NM_001277115.2(DNAH11):c.1974-24_1974-13del
|
rs2534588722
|
|
|
NM_001277115.2(DNAH11):c.1974-5T>C
|
rs2534588789
|
|
|
NM_001277115.2(DNAH11):c.1974-7C>T
|
rs748743239
|
|
|
NM_001277115.2(DNAH11):c.1978T>C (p.Leu660=)
|
rs771896570
|
|
|
NM_001277115.2(DNAH11):c.1986T>C (p.Asn662=)
|
rs1784588927
|
|
|
NM_001277115.2(DNAH11):c.1987C>G (p.Pro663Ala)
|
rs546189940
|
|
|
NM_001277115.2(DNAH11):c.1988C>T (p.Pro663Leu)
|
rs1375072491
|
|
|
NM_001277115.2(DNAH11):c.1993C>G (p.His665Asp)
|
rs1314862538
|
|
|
NM_001277115.2(DNAH11):c.1996G>T (p.Ala666Ser)
|
rs1415369353
|
|
|
NM_001277115.2(DNAH11):c.1997C>A (p.Ala666Asp)
|
rs368059592
|
|
|
NM_001277115.2(DNAH11):c.1997C>G (p.Ala666Gly)
|
rs368059592
|
|
|
NM_001277115.2(DNAH11):c.1A>C (p.Met1Leu)
|
rs1162526607
|
|
|
NM_001277115.2(DNAH11):c.2000del (p.Ala666_Leu667insTer)
|
rs2534588927
|
|
|
NM_001277115.2(DNAH11):c.200C>A (p.Ala67Glu)
|
|
|
|
NM_001277115.2(DNAH11):c.2010A>G (p.Gln670=)
|
|
|
|
NM_001277115.2(DNAH11):c.201G>A (p.Ala67=)
|
rs1388988809
|
|
|
NM_001277115.2(DNAH11):c.2020_2021del (p.Glu674fs)
|
|
|
|
NM_001277115.2(DNAH11):c.2033T>C (p.Leu678Ser)
|
rs1784591318
|
|
|
NM_001277115.2(DNAH11):c.2033T>G (p.Leu678Trp)
|
rs1784591318
|
|
|
NM_001277115.2(DNAH11):c.2046T>A (p.Phe682Leu)
|
rs2534589163
|
|
|
NM_001277115.2(DNAH11):c.2046dup (p.Glu683Ter)
|
rs2534589152
|
|
|
NM_001277115.2(DNAH11):c.2052T>A (p.Ser684Arg)
|
rs748852905
|
|
|
NM_001277115.2(DNAH11):c.2053C>T (p.Arg685Cys)
|
rs754405810
|
|
|
NM_001277115.2(DNAH11):c.2055T>C (p.Arg685=)
|
rs2534589201
|
|
|
NM_001277115.2(DNAH11):c.2060A>T (p.Tyr687Phe)
|
rs372935096
|
|
|
NM_001277115.2(DNAH11):c.2064T>A (p.Asn688Lys)
|
|
|
|
NM_001277115.2(DNAH11):c.2064T>C (p.Asn688=)
|
rs770072290
|
|
|
NM_001277115.2(DNAH11):c.2067A>G (p.Glu689=)
|
rs2534589253
|
|
|
NM_001277115.2(DNAH11):c.2069G>A (p.Trp690Ter)
|
rs1784592491
|
|
|
NM_001277115.2(DNAH11):c.2075G>T (p.Ser692Ile)
|
rs528619219
|
|
|
NM_001277115.2(DNAH11):c.2111A>T (p.Gln704Leu)
|
rs377725666
|
|
|
NM_001277115.2(DNAH11):c.2112A>C (p.Gln704His)
|
rs758340491
|
|
|
NM_001277115.2(DNAH11):c.2113C>A (p.Pro705Thr)
|
rs1784594376
|
|
|
NM_001277115.2(DNAH11):c.2118G>C (p.Leu706Phe)
|
rs1784594733
|
|
|
NM_001277115.2(DNAH11):c.2127C>T (p.Phe709=)
|
rs746839370
|
|
|
NM_001277115.2(DNAH11):c.2129G>T (p.Ser710Ile)
|
|
|
|
NM_001277115.2(DNAH11):c.2143C>T (p.Leu715Phe)
|
rs2128443046
|
|
|
NM_001277115.2(DNAH11):c.2148C>G (p.Leu716=)
|
rs770587150
|
|
|
NM_001277115.2(DNAH11):c.2148C>T (p.Leu716=)
|
rs770587150
|
|
|
NM_001277115.2(DNAH11):c.2156A>T (p.Asn719Ile)
|
rs551038953
|
|
|
NM_001277115.2(DNAH11):c.2169+11G>T
|
|
|
|
NM_001277115.2(DNAH11):c.2169+12A>T
|
rs2534589867
|
|
|
NM_001277115.2(DNAH11):c.2169+18T>C
|
rs539702785
|
|
|
NM_001277115.2(DNAH11):c.2169+6G>T
|
rs761214072
|
|
|
NM_001277115.2(DNAH11):c.216C>T (p.Phe72=)
|
rs2534410268
|
|
|
NM_001277115.2(DNAH11):c.2170-13T>G
|
rs2534596020
|
|
|
NM_001277115.2(DNAH11):c.2170-15A>C
|
|
|
|
NM_001277115.2(DNAH11):c.2170-16A>G
|
rs764895515
|
|
|
NM_001277115.2(DNAH11):c.2170-1G>C
|
rs2534596060
|
|
|
NM_001277115.2(DNAH11):c.2170-6T>C
|
rs1784650635
|
|
|
NM_001277115.2(DNAH11):c.2176G>T (p.Ala726Ser)
|
|
|
|
NM_001277115.2(DNAH11):c.2179G>A (p.Val727Ile)
|
|
|
|
NM_001277115.2(DNAH11):c.2186G>A (p.Arg729Lys)
|
rs2534596144
|
|
|
NM_001277115.2(DNAH11):c.2199T>A (p.Tyr733Ter)
|
rs2128443515
|
|
|
NM_001277115.2(DNAH11):c.2199T>C (p.Tyr733=)
|
rs2128443515
|
|
|
NM_001277115.2(DNAH11):c.2200_2240dup (p.Leu747delinsPhePheTer)
|
rs1583508118
|
|
|
NM_001277115.2(DNAH11):c.2209T>C (p.Leu737=)
|
rs2534596246
|
|
|
NM_001277115.2(DNAH11):c.2229A>G (p.Pro743=)
|
rs372890947
|
|
|
NM_001277115.2(DNAH11):c.2231A>G (p.Asp744Gly)
|
rs772412152
|
|
|
NM_001277115.2(DNAH11):c.2234C>G (p.Ser745Ter)
|
rs1784654067
|
|
|
NM_001277115.2(DNAH11):c.2244C>T (p.Ala748=)
|
rs747046328
|
|
|
NM_001277115.2(DNAH11):c.2247C>T (p.Ile749=)
|
rs2534596424
|
|
|
NM_001277115.2(DNAH11):c.2267T>C (p.Ile756Thr)
|
|
|
|
NM_001277115.2(DNAH11):c.2274+10T>G
|
rs1562684255
|
|
|
NM_001277115.2(DNAH11):c.2274+11T>G
|
|
|
|
NM_001277115.2(DNAH11):c.2274+17A>T
|
rs2534596688
|
|
|
NM_001277115.2(DNAH11):c.2274+1del
|
rs2534596587
|
|
|
NM_001277115.2(DNAH11):c.2274+20A>T
|
rs1303866682
|
|
|
NM_001277115.2(DNAH11):c.2274+20_2274+24del
|
rs527250937
|
|
|
NM_001277115.2(DNAH11):c.2274+24del
|
rs527250937
|
|
|
NM_001277115.2(DNAH11):c.2274+24dup
|
rs527250937
|
|
|
NM_001277115.2(DNAH11):c.2274+7G>A
|
rs1784656226
|
|
|
NM_001277115.2(DNAH11):c.2274+8A>G
|
rs1441766443
|
|
|
NM_001277115.2(DNAH11):c.2275-10_2275-8del
|
rs1415367151
|
|
|
NM_001277115.2(DNAH11):c.2275-11T>G
|
|
|
|
NM_001277115.2(DNAH11):c.2275-15del
|
rs2534597412
|
|
|
NM_001277115.2(DNAH11):c.2275-1del
|
|
|
|
NM_001277115.2(DNAH11):c.2275-2A>G
|
rs2534597561
|
|
|
NM_001277115.2(DNAH11):c.2275-5C>G
|
rs1460953805
|
|
|
NM_001277115.2(DNAH11):c.2278A>T (p.Ile760Phe)
|
rs768205792
|
|
|
NM_001277115.2(DNAH11):c.227A>G (p.Lys76Arg)
|
rs2128424849
|
|
|
NM_001277115.2(DNAH11):c.2280T>C (p.Ile760=)
|
rs2534597605
|
|
|
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.2297T>C (p.Leu766Pro)
|
rs760763043
|
|
|
NM_001277115.2(DNAH11):c.2298T>C (p.Leu766=)
|
rs2534597678
|
|
|
NM_001277115.2(DNAH11):c.2303A>G (p.Gln768Arg)
|
rs1784666401
|
|
|
NM_001277115.2(DNAH11):c.2308T>C (p.Tyr770His)
|
rs1318245631
|
|
|
NM_001277115.2(DNAH11):c.2313T>C (p.Asn771=)
|
rs753701585
|
|
|
NM_001277115.2(DNAH11):c.2313T>G (p.Asn771Lys)
|
rs753701585
|
|
|
NM_001277115.2(DNAH11):c.2314A>C (p.Lys772Gln)
|
rs2128443616
|
|
|
NM_001277115.2(DNAH11):c.2315A>C (p.Lys772Thr)
|
rs1489275422
|
|
|
NM_001277115.2(DNAH11):c.2317C>T (p.Leu773Phe)
|
rs754756327
|
|
|
NM_001277115.2(DNAH11):c.2320A>T (p.Lys774Ter)
|
rs2534597888
|
|
|
NM_001277115.2(DNAH11):c.2321_2324del (p.Lys774fs)
|
rs773538041
|
|
|
NM_001277115.2(DNAH11):c.2328G>T (p.Thr776=)
|
rs372387032
|
|
|
NM_001277115.2(DNAH11):c.2331C>T (p.Leu777=)
|
rs899450588
|
|
|
NM_001277115.2(DNAH11):c.2338G>A (p.Val780Ile)
|
rs1369057542
|
|
|
NM_001277115.2(DNAH11):c.233G>A (p.Ser78Asn)
|
rs759339238
|
|
|
NM_001277115.2(DNAH11):c.2341G>A (p.Glu781Lys)
|
|
|
|
NM_001277115.2(DNAH11):c.2346C>G (p.Tyr782Ter)
|
rs376452135
|
|
|
NM_001277115.2(DNAH11):c.2347C>G (p.Pro783Ala)
|
rs756615698
|
|
|
NM_001277115.2(DNAH11):c.234C>G (p.Ser78Arg)
|
rs1487726993
|
|
|
NM_001277115.2(DNAH11):c.2354T>C (p.Ile785Thr)
|
rs749673513
|
|
|
NM_001277115.2(DNAH11):c.2355T>C (p.Ile785=)
|
rs2534598059
|
|
|
NM_001277115.2(DNAH11):c.2364G>A (p.Glu788=)
|
rs769024712
|
|
|
NM_001277115.2(DNAH11):c.2364G>T (p.Glu788Asp)
|
rs769024712
|
|
|
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.2374A>G (p.Ile792Val)
|
rs762314534
|
|
|
NM_001277115.2(DNAH11):c.2388G>A (p.Leu796=)
|
rs771017427
|
|
|
NM_001277115.2(DNAH11):c.2388G>C (p.Leu796=)
|
rs771017427
|
|
|
NM_001277115.2(DNAH11):c.239A>G (p.Tyr80Cys)
|
rs2128424856
|
|
|
NM_001277115.2(DNAH11):c.23G>T (p.Arg8Leu)
|
rs1284141098
|
|
|
NM_001277115.2(DNAH11):c.240T>C (p.Tyr80=)
|
rs1782666524
|
|
|
NM_001277115.2(DNAH11):c.2413T>C (p.Trp805Arg)
|
|
|
|
NM_001277115.2(DNAH11):c.2421T>C (p.Asp807=)
|
|
|
|
NM_001277115.2(DNAH11):c.2426G>A (p.Cys809Tyr)
|
rs540459682
|
|
|
NM_001277115.2(DNAH11):c.2439C>A (p.Ile813=)
|
rs777520840
|
|
|
NM_001277115.2(DNAH11):c.2439C>T (p.Ile813=)
|
|
|
|
NM_001277115.2(DNAH11):c.2440G>C (p.Glu814Gln)
|
rs529566924
|
|
|
NM_001277115.2(DNAH11):c.2451G>A (p.Arg817=)
|
rs2534598471
|
|
|
NM_001277115.2(DNAH11):c.2452G>C (p.Ala818Pro)
|
rs1554316504
|
|
|
NM_001277115.2(DNAH11):c.2454A>C (p.Ala818=)
|
rs4615458
|
|
|
NM_001277115.2(DNAH11):c.246A>G (p.Glu82=)
|
|
|
|
NM_001277115.2(DNAH11):c.2471A>T (p.Glu824Val)
|
rs2534598685
|
|
|
NM_001277115.2(DNAH11):c.2475_2476del (p.His825fs)
|
|
|
|
NM_001277115.2(DNAH11):c.2486G>C (p.Arg829Pro)
|
rs201261243
|
|
|
NM_001277115.2(DNAH11):c.2487C>T (p.Arg829=)
|
|
|
|
NM_001277115.2(DNAH11):c.2491C>T (p.Gln831Ter)
|
rs753129819
|
|
|
NM_001277115.2(DNAH11):c.2498A>C (p.Asn833Thr)
|
rs778255538
|
|
|
NM_001277115.2(DNAH11):c.249C>T (p.Ser83=)
|
rs1157375192
|
|
|
NM_001277115.2(DNAH11):c.24G>C (p.Arg8=)
|
rs1489353643
|
|
|
NM_001277115.2(DNAH11):c.2502G>A (p.Val834=)
|
rs780817757
|
|
|
NM_001277115.2(DNAH11):c.2516A>T (p.Gln839Leu)
|
rs2128443723
|
|
|
NM_001277115.2(DNAH11):c.2517G>A (p.Gln839=)
|
|
|
|
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.252G>A (p.Glu84=)
|
|
|
|
NM_001277115.2(DNAH11):c.253G>A (p.Asp85Asn)
|
rs2534410392
|
|
|
NM_001277115.2(DNAH11):c.2540G>A (p.Cys847Tyr)
|
rs760954142
|
|
|
NM_001277115.2(DNAH11):c.2541C>T (p.Cys847=)
|
rs776784831
|
|
|
NM_001277115.2(DNAH11):c.2542G>T (p.Val848Leu)
|
rs80328282
|
|
|
NM_001277115.2(DNAH11):c.2552C>T (p.Pro851Leu)
|
rs753182203
|
|
|
NM_001277115.2(DNAH11):c.2559del (p.Glu854fs)
|
rs1562684798
|
|
|
NM_001277115.2(DNAH11):c.2564A>G (p.His855Arg)
|
rs1467334392
|
|
|
NM_001277115.2(DNAH11):c.2578G>T (p.Ala860Ser)
|
rs1171160143
|
|
|
NM_001277115.2(DNAH11):c.2597A>G (p.Lys866Arg)
|
rs1429419142
|
|
|
NM_001277115.2(DNAH11):c.2598G>C (p.Lys866Asn)
|
rs1784687735
|
|
|
NM_001277115.2(DNAH11):c.25G>A (p.Glu9Lys)
|
|
|
|
NM_001277115.2(DNAH11):c.2600G>T (p.Gly867Val)
|
rs1307428257
|
|
|
NM_001277115.2(DNAH11):c.2606dup (p.Leu869fs)
|
rs2534599431
|
|
|
NM_001277115.2(DNAH11):c.2607G>A (p.Leu869=)
|
rs2534599457
|
|
|
NM_001277115.2(DNAH11):c.2613A>T (p.Thr871=)
|
rs771205044
|
|
|
NM_001277115.2(DNAH11):c.2624A>C (p.Lys875Thr)
|
rs1191137015
|
|
|
NM_001277115.2(DNAH11):c.2629A>G (p.Ile877Val)
|
rs2128443771
|
|
|
NM_001277115.2(DNAH11):c.2631C>A (p.Ile877=)
|
rs1003575600
|
|
|
NM_001277115.2(DNAH11):c.2636G>T (p.Gly879Val)
|
|
|
|
NM_001277115.2(DNAH11):c.2656A>G (p.Asn886Asp)
|
rs775621639
|
|
|
NM_001277115.2(DNAH11):c.2657A>C (p.Asn886Thr)
|
rs375268953
|
|
|
NM_001277115.2(DNAH11):c.2657A>G (p.Asn886Ser)
|
rs375268953
|
|
|
NM_001277115.2(DNAH11):c.2658C>G (p.Asn886Lys)
|
rs886062173
|
|
|
NM_001277115.2(DNAH11):c.2661G>A (p.Leu887=)
|
rs2534599738
|
|
|
NM_001277115.2(DNAH11):c.2661G>T (p.Leu887Phe)
|
|
|
|
NM_001277115.2(DNAH11):c.2662G>C (p.Val888Leu)
|
rs1295846959
|
|
|
NM_001277115.2(DNAH11):c.2664C>G (p.Val888=)
|
rs757649943
|
|
|
NM_001277115.2(DNAH11):c.2665G>T (p.Glu889Ter)
|
rs767231963
|
|
|
NM_001277115.2(DNAH11):c.2667+1G>C
|
rs1784691873
|
|
|
NM_001277115.2(DNAH11):c.2667+8C>G
|
rs750085479
|
|
|
NM_001277115.2(DNAH11):c.2668-15C>T
|
rs1335316744
|
|
|
NM_001277115.2(DNAH11):c.2668G>T (p.Glu890Ter)
|
rs1182156737
|
|
|
NM_001277115.2(DNAH11):c.2671A>G (p.Asn891Asp)
|
rs1354416117
|
|
|
NM_001277115.2(DNAH11):c.2674del (p.Arg892fs)
|
rs2534627208
|
|
|
NM_001277115.2(DNAH11):c.2694T>C (p.Asn898=)
|
rs2128446539
|
|
|
NM_001277115.2(DNAH11):c.2703G>C (p.Leu901=)
|
rs753367919
|
|
|
NM_001277115.2(DNAH11):c.2706T>C (p.Asp902=)
|
rs1255466391
|
|
|
NM_001277115.2(DNAH11):c.2714A>C (p.Lys905Thr)
|
rs778362196
|
|
|
NM_001277115.2(DNAH11):c.2730C>T (p.Phe910=)
|
rs2534627524
|
|
|
NM_001277115.2(DNAH11):c.2732T>A (p.Ile911Asn)
|
rs746755614
|
|
|
NM_001277115.2(DNAH11):c.2739C>T (p.Asp913=)
|
rs2534627565
|
|
|
NM_001277115.2(DNAH11):c.273G>T (p.Gly91=)
|
rs1016139987
|
|
|
NM_001277115.2(DNAH11):c.2740del (p.Ile914fs)
|
rs760757416
|
|
|
NM_001277115.2(DNAH11):c.2760dup (p.Gln921fs)
|
rs2534627646
|
|
|
NM_001277115.2(DNAH11):c.2763G>A (p.Gln921=)
|
|
|
|
NM_001277115.2(DNAH11):c.2764del (p.Ala922fs)
|
|
|
|
NM_001277115.2(DNAH11):c.2769A>G (p.Ile923Met)
|
rs1583516086
|
|
|
NM_001277115.2(DNAH11):c.276G>A (p.Glu92=)
|
|
|
|
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.2784C>G (p.Asp928Glu)
|
|
|
|
NM_001277115.2(DNAH11):c.2784C>T (p.Asp928=)
|
rs1785006462
|
|
|
NM_001277115.2(DNAH11):c.2791C>T (p.Leu931=)
|
rs2534627848
|
|
|
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.2799T>C (p.Asn933=)
|
|
|
|
NM_001277115.2(DNAH11):c.280C>A (p.Leu94Met)
|
|
|
|
NM_001277115.2(DNAH11):c.280C>T (p.Leu94=)
|
rs1311898625
|
|
|
NM_001277115.2(DNAH11):c.2820G>A (p.Pro940=)
|
rs377575914
|
|
|
NM_001277115.2(DNAH11):c.2820G>T (p.Pro940=)
|
rs377575914
|
|
|
NM_001277115.2(DNAH11):c.2836G>A (p.Ala946Thr)
|
|
|
|
NM_001277115.2(DNAH11):c.2839C>T (p.Gln947Ter)
|
rs1554318136
|
|
|
NM_001277115.2(DNAH11):c.283G>C (p.Glu95Gln)
|
rs1380410361
|
|
|
NM_001277115.2(DNAH11):c.2841A>G (p.Gln947=)
|
rs1162778746
|
|
|
NM_001277115.2(DNAH11):c.2841A>T (p.Gln947His)
|
rs1162778746
|
|
|
NM_001277115.2(DNAH11):c.2847C>T (p.Ile949=)
|
rs1248712632
|
|
|
NM_001277115.2(DNAH11):c.2848T>C (p.Leu950=)
|
rs1785012472
|
|
|
NM_001277115.2(DNAH11):c.2890G>A (p.Glu964Lys)
|
rs1785014554
|
|
|
NM_001277115.2(DNAH11):c.2907C>A (p.Phe969Leu)
|
rs777691425
|
|
|
NM_001277115.2(DNAH11):c.2907C>T (p.Phe969=)
|
rs777691425
|
|
|
NM_001277115.2(DNAH11):c.2919A>G (p.Val973=)
|
rs1785016010
|
|
|
NM_001277115.2(DNAH11):c.2921A>G (p.Glu974Gly)
|
rs1378614841
|
|
|
NM_001277115.2(DNAH11):c.2923G>T (p.Glu975Ter)
|
rs776980207
|
|
|
NM_001277115.2(DNAH11):c.2927T>C (p.Met976Thr)
|
|
|
|
NM_001277115.2(DNAH11):c.2931dup (p.Cys978fs)
|
rs1446965214
|
|
|
NM_001277115.2(DNAH11):c.2932T>C (p.Cys978Arg)
|
rs886062174
|
|
|
NM_001277115.2(DNAH11):c.2943T>C (p.Phe981=)
|
rs2128446686
|
|
|
NM_001277115.2(DNAH11):c.2947A>C (p.Met983Leu)
|
rs563145818
|
|
|
NM_001277115.2(DNAH11):c.2947A>T (p.Met983Leu)
|
|
|
|
NM_001277115.2(DNAH11):c.295C>G (p.Pro99Ala)
|
rs992285091
|
|
|
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.2974del (p.Thr992fs)
|
rs756850884
|
|
|
NM_001277115.2(DNAH11):c.2975C>T (p.Thr992Ile)
|
rs777972960
|
|
|
NM_001277115.2(DNAH11):c.297G>T (p.Pro99=)
|
rs886038461
|
|
|
NM_001277115.2(DNAH11):c.2982G>A (p.Leu994=)
|
rs2534628744
|
|
|
NM_001277115.2(DNAH11):c.2984A>C (p.Glu995Ala)
|
rs2128446711
|
|
|
NM_001277115.2(DNAH11):c.2998C>T (p.Gln1000Ter)
|
rs2534628821
|
|
|
NM_001277115.2(DNAH11):c.3000+19G>A
|
rs780263239
|
|
|
NM_001277115.2(DNAH11):c.3000+1G>T
|
rs986470719
|
|
|
NM_001277115.2(DNAH11):c.3000+20G>A
|
rs749028597
|
|
|
NM_001277115.2(DNAH11):c.3000+20G>T
|
|
|
|
NM_001277115.2(DNAH11):c.3000+20_3000+24dup
|
rs2534629006
|
|
|
NM_001277115.2(DNAH11):c.3000+4T>C
|
rs1785020067
|
|
|
NM_001277115.2(DNAH11):c.3001-11C>T
|
rs1785044072
|
|
|
NM_001277115.2(DNAH11):c.3001-12C>T
|
rs2534631534
|
|
|
NM_001277115.2(DNAH11):c.3001-17G>A
|
rs2534631504
|
|
|
NM_001277115.2(DNAH11):c.3001-21_3001-17del
|
|
|
|
NM_001277115.2(DNAH11):c.3007A>G (p.Met1003Val)
|
rs747770528
|
|
|
NM_001277115.2(DNAH11):c.3008T>A (p.Met1003Lys)
|
rs771757208
|
|
|
NM_001277115.2(DNAH11):c.3008T>C (p.Met1003Thr)
|
rs771757208
|
|
|
NM_001277115.2(DNAH11):c.3020T>G (p.Leu1007Ter)
|
rs1480698078
|
|
|
NM_001277115.2(DNAH11):c.3023G>C (p.Gly1008Ala)
|
rs776495900
|
|
|
NM_001277115.2(DNAH11):c.3025C>T (p.Leu1009=)
|
rs542059067
|
|
|
NM_001277115.2(DNAH11):c.3027G>A (p.Leu1009=)
|
rs764404119
|
|
|
NM_001277115.2(DNAH11):c.302G>C (p.Cys101Ser)
|
rs966907044
|
|
|
NM_001277115.2(DNAH11):c.3036C>A (p.Val1012=)
|
rs1168201753
|
|
|
NM_001277115.2(DNAH11):c.3047T>C (p.Ile1016Thr)
|
rs1276704052
|
|
|
NM_001277115.2(DNAH11):c.3048C>T (p.Ile1016=)
|
rs2128446907
|
|
|
NM_001277115.2(DNAH11):c.3054C>T (p.Asn1018=)
|
rs2534631811
|
|
|
NM_001277115.2(DNAH11):c.3061G>A (p.Val1021Met)
|
|
|
|
NM_001277115.2(DNAH11):c.3092G>C (p.Arg1031Thr)
|
rs1385242394
|
|
|
NM_001277115.2(DNAH11):c.3095A>G (p.Asn1032Ser)
|
rs1583517157
|
|
|
NM_001277115.2(DNAH11):c.3096C>T (p.Asn1032=)
|
rs2534631998
|
|
|
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.3114T>C (p.Thr1038=)
|
rs2534632147
|
|
|
NM_001277115.2(DNAH11):c.3117C>G (p.Tyr1039Ter)
|
rs760622693
|
|
|
NM_001277115.2(DNAH11):c.3122G>A (p.Trp1041Ter)
|
rs878854441
|
|
|
NM_001277115.2(DNAH11):c.3126G>C (p.Val1042=)
|
rs1315822634
|
|
|
NM_001277115.2(DNAH11):c.3128A>G (p.Asp1043Gly)
|
rs1353156845
|
|
|
NM_001277115.2(DNAH11):c.3131A>G (p.Asp1044Gly)
|
|
|
|
NM_001277115.2(DNAH11):c.3134G>T (p.Arg1045Leu)
|
rs754350576
|
|
|
NM_001277115.2(DNAH11):c.3141G>C (p.Glu1047Asp)
|
rs1049088648
|
|
|
NM_001277115.2(DNAH11):c.3143T>C (p.Phe1048Ser)
|
rs978150323
|
|
|
NM_001277115.2(DNAH11):c.3150G>A (p.Lys1050=)
|
rs2534632356
|
|
|
NM_001277115.2(DNAH11):c.3151C>T (p.His1051Tyr)
|
rs1255151205
|
|
|
NM_001277115.2(DNAH11):c.3152A>G (p.His1051Arg)
|
rs375664853
|
|
|
NM_001277115.2(DNAH11):c.3170A>G (p.His1057Arg)
|
rs1156271424
|
|
|
NM_001277115.2(DNAH11):c.3175G>C (p.Val1059Leu)
|
|
|
|
NM_001277115.2(DNAH11):c.3179C>T (p.Ser1060Phe)
|
rs1161706526
|
|
|
NM_001277115.2(DNAH11):c.3182C>A (p.Ser1061Tyr)
|
rs367665090
|
|
|
NM_001277115.2(DNAH11):c.3184G>A (p.Asp1062Asn)
|
rs371880343
|
|
|
NM_001277115.2(DNAH11):c.3187G>A (p.Glu1063Lys)
|
rs749025035
|
|
|
NM_001277115.2(DNAH11):c.3191T>C (p.Met1064Thr)
|
|
|
|
NM_001277115.2(DNAH11):c.3196G>A (p.Ala1066Thr)
|
rs1785056678
|
|
|
NM_001277115.2(DNAH11):c.319G>A (p.Ala107Thr)
|
rs1161522667
|
|
|
NM_001277115.2(DNAH11):c.31C>G (p.Arg11Gly)
|
rs758658916
|
|
|
NM_001277115.2(DNAH11):c.3200A>G (p.His1067Arg)
|
rs770973105
|
|
|
NM_001277115.2(DNAH11):c.3208G>T (p.Glu1070Ter)
|
rs949492765
|
|
|
NM_001277115.2(DNAH11):c.3220G>T (p.Glu1074Ter)
|
rs765778415
|
|
|
NM_001277115.2(DNAH11):c.3223C>T (p.Gln1075Ter)
|
rs1785058598
|
|
|
NM_001277115.2(DNAH11):c.3240G>A (p.Glu1080=)
|
|
|
|
NM_001277115.2(DNAH11):c.324C>A (p.Ala108=)
|
rs1465738261
|
|
|
NM_001277115.2(DNAH11):c.3255+13C>G
|
rs2534633066
|
|
|
NM_001277115.2(DNAH11):c.3255+16_3255+17insTGG
|
rs2534633085
|
|
|
NM_001277115.2(DNAH11):c.3255+1G>T
|
rs2534633028
|
|
|
NM_001277115.2(DNAH11):c.3256-12_3256-11del
|
rs1457504284
|
|
|
NM_001277115.2(DNAH11):c.3256-19A>C
|
rs1048659573
|
|
|
NM_001277115.2(DNAH11):c.3256-19_3256-16del
|
|
|
|
NM_001277115.2(DNAH11):c.3256-4A>G
|
|
|
|
NM_001277115.2(DNAH11):c.3260A>G (p.Asp1087Gly)
|
rs1297331528
|
|
|
NM_001277115.2(DNAH11):c.3264T>C (p.Ile1088=)
|
rs906319143
|
|
|
NM_001277115.2(DNAH11):c.3267T>C (p.Tyr1089=)
|
rs2534633424
|
|
|
NM_001277115.2(DNAH11):c.3270A>G (p.Glu1090=)
|
|
|
|
NM_001277115.2(DNAH11):c.3271G>A (p.Ala1091Thr)
|
|
|
|
NM_001277115.2(DNAH11):c.3279T>G (p.Tyr1093Ter)
|
rs753829354
|
|
|
NM_001277115.2(DNAH11):c.327G>C (p.Ser109=)
|
rs1295059010
|
|
|
NM_001277115.2(DNAH11):c.3285A>G (p.Gln1095=)
|
rs1420531668
|
|
|
NM_001277115.2(DNAH11):c.3294A>G (p.Lys1098=)
|
rs1562691890
|
|
|
NM_001277115.2(DNAH11):c.32G>A (p.Arg11Gln)
|
rs1471867391
|
|
|
NM_001277115.2(DNAH11):c.32G>C (p.Arg11Pro)
|
rs1471867391
|
|
|
NM_001277115.2(DNAH11):c.3307dup (p.Arg1103fs)
|
rs2534633649
|
|
|
NM_001277115.2(DNAH11):c.3318T>C (p.Asp1106=)
|
rs762188914
|
|
|
NM_001277115.2(DNAH11):c.3325T>C (p.Phe1109Leu)
|
rs2128447080
|
|
|
NM_001277115.2(DNAH11):c.3330G>T (p.Lys1110Asn)
|
rs1285979781
|
|
|
NM_001277115.2(DNAH11):c.3343C>A (p.Pro1115Thr)
|
rs772893360
|
|
|
NM_001277115.2(DNAH11):c.3354G>C (p.Val1118=)
|
|
|
|
NM_001277115.2(DNAH11):c.3365C>T (p.Thr1122Ile)
|
rs878854442
|
|
|
NM_001277115.2(DNAH11):c.3366C>G (p.Thr1122=)
|
rs1785067822
|
|
|
NM_001277115.2(DNAH11):c.3369A>G (p.Ile1123Met)
|
rs765171635
|
|
|
NM_001277115.2(DNAH11):c.3378A>G (p.Lys1126=)
|
rs2534633866
|
|
|
NM_001277115.2(DNAH11):c.3380G>A (p.Trp1127Ter)
|
rs2534633877
|
|
|
NM_001277115.2(DNAH11):c.3384del (p.Trp1129fs)
|
rs2534633898
|
|
|
NM_001277115.2(DNAH11):c.3388A>G (p.Met1130Val)
|
rs2128447106
|
|
|
NM_001277115.2(DNAH11):c.3396G>A (p.Gln1132=)
|
rs2534633958
|
|
|
NM_001277115.2(DNAH11):c.339G>A (p.Ala113=)
|
rs2534410759
|
|
|
NM_001277115.2(DNAH11):c.3401A>G (p.His1134Arg)
|
rs1327174081
|
|
|
NM_001277115.2(DNAH11):c.3413T>C (p.Phe1138Ser)
|
|
|
|
NM_001277115.2(DNAH11):c.3417C>T (p.Val1139=)
|
rs2534634078
|
|
|
NM_001277115.2(DNAH11):c.3425+11A>G
|
rs752727033
|
|
|
NM_001277115.2(DNAH11):c.3425+12C>A
|
rs2534634238
|
|
|
NM_001277115.2(DNAH11):c.3425+14T>C
|
|
|
|
NM_001277115.2(DNAH11):c.3425+18T>C
|
rs569042999
|
|
|
NM_001277115.2(DNAH11):c.3426-10T>C
|
|
|
|
NM_001277115.2(DNAH11):c.3426-12T>C
|
|
|
|
NM_001277115.2(DNAH11):c.3426-18T>G
|
rs886038462
|
|
|
NM_001277115.2(DNAH11):c.3431A>T (p.Asn1144Ile)
|
rs762955756
|
|
|
NM_001277115.2(DNAH11):c.3431_3434del (p.Asn1144fs)
|
rs749689428
|
|
|
NM_001277115.2(DNAH11):c.3435G>A (p.Glu1145=)
|
rs1349828360
|
|
|
NM_001277115.2(DNAH11):c.3436C>T (p.Leu1146=)
|
|
|
|
NM_001277115.2(DNAH11):c.3442G>A (p.Glu1148Lys)
|
rs1305489304
|
|
|
NM_001277115.2(DNAH11):c.3442G>T (p.Glu1148Ter)
|
|
|
|
NM_001277115.2(DNAH11):c.3443A>G (p.Glu1148Gly)
|
rs2534635339
|
|
|
NM_001277115.2(DNAH11):c.3458C>T (p.Thr1153Ile)
|
rs2534635440
|
|
|
NM_001277115.2(DNAH11):c.3465C>T (p.Ser1155=)
|
rs755144481
|
|
|
NM_001277115.2(DNAH11):c.346C>T (p.Gln116Ter)
|
rs374802008
|
|
|
NM_001277115.2(DNAH11):c.3472C>G (p.Gln1158Glu)
|
rs778213079
|
|
|
NM_001277115.2(DNAH11):c.3488A>G (p.Glu1163Gly)
|
rs771330545
|
|
|
NM_001277115.2(DNAH11):c.3491G>A (p.Gly1164Asp)
|
rs781520837
|
|
|
NM_001277115.2(DNAH11):c.3492T>C (p.Gly1164=)
|
rs2534635706
|
|
|
NM_001277115.2(DNAH11):c.3495_3496delinsAT (p.Asp1165_His1166delinsGluTyr)
|
rs2128447235
|
|
|
NM_001277115.2(DNAH11):c.34G>C (p.Asp12His)
|
|
|
|
NM_001277115.2(DNAH11):c.3500A>G (p.Asp1167Gly)
|
rs1399814322
|
|
|
NM_001277115.2(DNAH11):c.3509T>C (p.Val1170Ala)
|
rs774471024
|
|
|
NM_001277115.2(DNAH11):c.351+10G>T
|
rs2534410864
|
|
|
NM_001277115.2(DNAH11):c.351+14G>T
|
|
|
|
NM_001277115.2(DNAH11):c.351+15G>A
|
rs1208054630
|
|
|
NM_001277115.2(DNAH11):c.351+6A>T
|
rs1782674510
|
|
|
NM_001277115.2(DNAH11):c.351+7G>A
|
rs2534410848
|
|
|
NM_001277115.2(DNAH11):c.351+9C>G
|
rs985331987
|
|
|
NM_001277115.2(DNAH11):c.352-10C>G
|
|
|
|
NM_001277115.2(DNAH11):c.352-13G>A
|
rs1782751168
|
|
|
NM_001277115.2(DNAH11):c.352-13G>C
|
rs1782751168
|
|
|
NM_001277115.2(DNAH11):c.352-15T>C
|
|
|
|
NM_001277115.2(DNAH11):c.352-7G>A
|
rs2534415519
|
|
|
NM_001277115.2(DNAH11):c.352-7G>C
|
rs2534415519
|
|
|
NM_001277115.2(DNAH11):c.352-9_352-8del
|
rs2075223359
|
|
|
NM_001277115.2(DNAH11):c.3524A>G (p.His1175Arg)
|
rs939009364
|
|
|
NM_001277115.2(DNAH11):c.3528T>C (p.Leu1176=)
|
rs2534636007
|
|
|
NM_001277115.2(DNAH11):c.3529C>T (p.Leu1177=)
|
rs750181929
|
|
|
NM_001277115.2(DNAH11):c.3530T>C (p.Leu1177Pro)
|
rs2534636029
|
|
|
NM_001277115.2(DNAH11):c.3532G>A (p.Ala1178Thr)
|
rs1248235821
|
|
|
NM_001277115.2(DNAH11):c.3532G>T (p.Ala1178Ser)
|
rs1248235821
|
|
|
NM_001277115.2(DNAH11):c.3543C>T (p.Ser1181=)
|
rs2534636169
|
|
|
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.3564A>G (p.Glu1188=)
|
|
|
|
NM_001277115.2(DNAH11):c.3567C>G (p.Leu1189=)
|
rs1299347497
|
|
|
NM_001277115.2(DNAH11):c.3568T>C (p.Phe1190Leu)
|
|
|
|
NM_001277115.2(DNAH11):c.3569_3570del (p.Leu1189_Phe1190insTer)
|
rs779520176
|
|
|
NM_001277115.2(DNAH11):c.3570T>C (p.Phe1190=)
|
rs2534636430
|
|
|
NM_001277115.2(DNAH11):c.3574C>G (p.Pro1192Ala)
|
|
|
|
NM_001277115.2(DNAH11):c.3574C>T (p.Pro1192Ser)
|
|
|
|
NM_001277115.2(DNAH11):c.3585A>G (p.Glu1195=)
|
rs2534636477
|
|
|
NM_001277115.2(DNAH11):c.3588G>A (p.Thr1196=)
|
rs375767160
|
|
|
NM_001277115.2(DNAH11):c.3588G>T (p.Thr1196=)
|
rs375767160
|
|
|
NM_001277115.2(DNAH11):c.3589A>G (p.Ile1197Val)
|
rs1018831164
|
|
|
NM_001277115.2(DNAH11):c.3593C>G (p.Thr1198Ser)
|
rs2534636570
|
|
|
NM_001277115.2(DNAH11):c.3595del (p.Leu1199fs)
|
rs1479385947
|
|
|
NM_001277115.2(DNAH11):c.3597C>T (p.Leu1199=)
|
rs1785090298
|
|
|
NM_001277115.2(DNAH11):c.3621dup (p.Pro1208fs)
|
|
|
|
NM_001277115.2(DNAH11):c.3622C>G (p.Pro1208Ala)
|
rs766166470
|
|
|
NM_001277115.2(DNAH11):c.3623C>G (p.Pro1208Arg)
|
rs1060503057
|
|
|
NM_001277115.2(DNAH11):c.3645A>G (p.Leu1215=)
|
rs2534637238
|
|
|
NM_001277115.2(DNAH11):c.3647A>C (p.Glu1216Ala)
|
rs1016978531
|
|
|
NM_001277115.2(DNAH11):c.3648+10G>C
|
rs2534637337
|
|
|
NM_001277115.2(DNAH11):c.3648+14T>C
|
rs1173527634
|
|
|
NM_001277115.2(DNAH11):c.3648+19T>A
|
|
|
|
NM_001277115.2(DNAH11):c.3648+19_3648+26dup
|
rs1404923534
|
|
|
NM_001277115.2(DNAH11):c.3648+20A>G
|
rs1414171054
|
|
|
NM_001277115.2(DNAH11):c.3648+23_3648+28del
|
rs2534637397
|
|
|
NM_001277115.2(DNAH11):c.3648+3A>G
|
rs2534637298
|
|
|
NM_001277115.2(DNAH11):c.3648+5G>T
|
rs750834005
|
|
|
NM_001277115.2(DNAH11):c.3649-11T>C
|
rs2534653453
|
|
|
NM_001277115.2(DNAH11):c.3649-12T>C
|
rs2534653448
|
|
|
NM_001277115.2(DNAH11):c.3655C>T (p.Pro1219Ser)
|
rs1052272234
|
|
|
NM_001277115.2(DNAH11):c.3657T>A (p.Pro1219=)
|
rs761230822
|
|
|
NM_001277115.2(DNAH11):c.3672T>A (p.Thr1224=)
|
rs2534653595
|
|
|
NM_001277115.2(DNAH11):c.3682A>G (p.Ile1228Val)
|
rs889893369
|
|
|
NM_001277115.2(DNAH11):c.3684C>A (p.Ile1228=)
|
rs570794632
|
|
|
NM_001277115.2(DNAH11):c.3684C>G (p.Ile1228Met)
|
rs570794632
|
|
|
NM_001277115.2(DNAH11):c.3685G>A (p.Ala1229Thr)
|
rs150717084
|
|
|
NM_001277115.2(DNAH11):c.3685G>T (p.Ala1229Ser)
|
rs150717084
|
|
|
NM_001277115.2(DNAH11):c.3693T>C (p.Thr1231=)
|
rs2128448905
|
|
|
NM_001277115.2(DNAH11):c.3696C>T (p.Val1232=)
|
rs2534653680
|
|
|
NM_001277115.2(DNAH11):c.36C>T (p.Asp12=)
|
|
|
|
NM_001277115.2(DNAH11):c.3708C>T (p.Val1236=)
|
rs746981588
|
|
|
NM_001277115.2(DNAH11):c.3717C>G (p.Leu1239=)
|
rs2534653790
|
|
|
NM_001277115.2(DNAH11):c.3723T>C (p.Asn1241=)
|
rs373574217
|
|
|
NM_001277115.2(DNAH11):c.3725C>A (p.Ala1242Glu)
|
rs185890143
|
|
|
NM_001277115.2(DNAH11):c.3725C>T (p.Ala1242Val)
|
rs185890143
|
|
|
NM_001277115.2(DNAH11):c.3729A>G (p.Glu1243=)
|
|
|
|
NM_001277115.2(DNAH11):c.3734C>T (p.Thr1245Ile)
|
rs1477380706
|
|
|
NM_001277115.2(DNAH11):c.3740T>C (p.Ile1247Thr)
|
rs375665693
|
|
|
NM_001277115.2(DNAH11):c.3744del (p.Lys1250fs)
|
rs2534653912
|
|
|
NM_001277115.2(DNAH11):c.3751T>C (p.Cys1251Arg)
|
rs765674180
|
|
|
NM_001277115.2(DNAH11):c.3754A>G (p.Ile1252Val)
|
rs752456028
|
|
|
NM_001277115.2(DNAH11):c.3765+11T>C
|
rs2534654113
|
|
|
NM_001277115.2(DNAH11):c.3765+13C>A
|
rs2534654129
|
|
|
NM_001277115.2(DNAH11):c.3765+14C>G
|
rs2534654141
|
|
|
NM_001277115.2(DNAH11):c.3765+16A>G
|
rs2534654156
|
|
|
NM_001277115.2(DNAH11):c.3765+17G>C
|
rs2534654166
|
|
|
NM_001277115.2(DNAH11):c.3765+6C>G
|
|
|
|
NM_001277115.2(DNAH11):c.3766-11G>T
|
rs765764104
|
|
|
NM_001277115.2(DNAH11):c.3766-11dup
|
rs2534654892
|
|
|
NM_001277115.2(DNAH11):c.3766-8A>G
|
rs1785297774
|
|
|
NM_001277115.2(DNAH11):c.3766-9A>T
|
rs970894597
|
|
|
NM_001277115.2(DNAH11):c.3767C>T (p.Ala1256Val)
|
rs2534654988
|
|
|
NM_001277115.2(DNAH11):c.3772C>T (p.Gln1258Ter)
|
rs980444912
|
|
|
NM_001277115.2(DNAH11):c.3782T>G (p.Phe1261Cys)
|
|
|
|
NM_001277115.2(DNAH11):c.3783C>T (p.Phe1261=)
|
rs1554319441
|
|
|
NM_001277115.2(DNAH11):c.3785G>T (p.Arg1262Ile)
|
rs766993437
|
|
|
NM_001277115.2(DNAH11):c.3789G>C (p.Glu1263Asp)
|
rs1226938046
|
|
|
NM_001277115.2(DNAH11):c.3791_3792del (p.Arg1264fs)
|
rs749926976
|
|
|
NM_001277115.2(DNAH11):c.3793T>C (p.Phe1265Leu)
|
|
|
|
NM_001277115.2(DNAH11):c.3800A>G (p.His1267Arg)
|
rs2534655157
|
|
|
NM_001277115.2(DNAH11):c.3802T>C (p.Tyr1268His)
|
|
|
|
NM_001277115.2(DNAH11):c.3807C>A (p.Ala1269=)
|
rs1403467638
|
|
|
NM_001277115.2(DNAH11):c.3807C>T (p.Ala1269=)
|
rs1403467638
|
|
|
NM_001277115.2(DNAH11):c.3808C>G (p.Pro1270Ala)
|
rs886062175
|
|
|
NM_001277115.2(DNAH11):c.380T>C (p.Val127Ala)
|
rs1583469159
|
|
|
NM_001277115.2(DNAH11):c.3810T>A (p.Pro1270=)
|
rs973037471
|
|
|
NM_001277115.2(DNAH11):c.3813T>G (p.Leu1271=)
|
rs2534655253
|
|
|
NM_001277115.2(DNAH11):c.3816A>G (p.Gly1272=)
|
|
|
|
NM_001277115.2(DNAH11):c.3833C>T (p.Pro1278Leu)
|
rs370684371
|
|
|
NM_001277115.2(DNAH11):c.3834A>G (p.Pro1278=)
|
rs776842155
|
|
|
NM_001277115.2(DNAH11):c.3836A>T (p.Tyr1279Phe)
|
rs1785301833
|
|
|
NM_001277115.2(DNAH11):c.3840A>C (p.Thr1280=)
|
rs1246328778
|
|
|
NM_001277115.2(DNAH11):c.3842C>G (p.Ala1281Gly)
|
rs770365463
|
|
|
NM_001277115.2(DNAH11):c.3852+7C>A
|
rs1169835138
|
|
|
NM_001277115.2(DNAH11):c.3853-16T>A
|
rs377295132
|
|
|
NM_001277115.2(DNAH11):c.3853-16T>C
|
rs377295132
|
|
|
NM_001277115.2(DNAH11):c.3853-5C>T
|
rs367628980
|
|
|
NM_001277115.2(DNAH11):c.3853-7T>C
|
|
|
|
NM_001277115.2(DNAH11):c.3853-8C>T
|
rs766175133
|
|
|
NM_001277115.2(DNAH11):c.3854del (p.Ala1285fs)
|
rs2534689330
|
|
|
NM_001277115.2(DNAH11):c.3855A>C (p.Ala1285=)
|
rs2534689337
|
|
|
NM_001277115.2(DNAH11):c.3864G>A (p.Glu1288=)
|
rs756313769
|
|
|
NM_001277115.2(DNAH11):c.3870G>A (p.Glu1290=)
|
rs200954442
|
|
|
NM_001277115.2(DNAH11):c.3871G>A (p.Ala1291Thr)
|
rs1369525489
|
|
|
NM_001277115.2(DNAH11):c.3892C>G (p.Gln1298Glu)
|
rs772894984
|
|
|
NM_001277115.2(DNAH11):c.3898C>A (p.Gln1300Lys)
|
rs375160708
|
|
|
NM_001277115.2(DNAH11):c.3898C>G (p.Gln1300Glu)
|
rs375160708
|
|
|
NM_001277115.2(DNAH11):c.3898_3906delinsG (p.Gln1300fs)
|
rs2534689583
|
|
|
NM_001277115.2(DNAH11):c.3901G>T (p.Glu1301Ter)
|
rs72657308
|
|
|
NM_001277115.2(DNAH11):c.3903A>G (p.Glu1301=)
|
|
|
|
NM_001277115.2(DNAH11):c.3907A>G (p.Thr1303Ala)
|
rs951199503
|
|
|
NM_001277115.2(DNAH11):c.3912T>A (p.Arg1304=)
|
rs2534689675
|
|
|
NM_001277115.2(DNAH11):c.3924G>A (p.Val1308=)
|
rs1378729722
|
|
|
NM_001277115.2(DNAH11):c.3935A>G (p.Glu1312Gly)
|
rs1235025695
|
|
|
NM_001277115.2(DNAH11):c.3939C>G (p.Tyr1313Ter)
|
rs376470998
|
|
|
NM_001277115.2(DNAH11):c.3952C>T (p.Gln1318Ter)
|
rs2534689898
|
|
|
NM_001277115.2(DNAH11):c.3958C>G (p.Arg1320Gly)
|
|
|
|
NM_001277115.2(DNAH11):c.3958C>T (p.Arg1320Cys)
|
rs753807678
|
|
|
NM_001277115.2(DNAH11):c.3969A>G (p.Ile1323Met)
|
rs779250701
|
|
|
NM_001277115.2(DNAH11):c.396G>T (p.Lys132Asn)
|
rs548141180
|
|
|
NM_001277115.2(DNAH11):c.3973T>C (p.Leu1325=)
|
rs1562702464
|
|
|
NM_001277115.2(DNAH11):c.3982G>C (p.Gly1328Arg)
|
|
|
|
NM_001277115.2(DNAH11):c.3996C>T (p.Val1332=)
|
rs1234804648
|
|
|
NM_001277115.2(DNAH11):c.39C>T (p.Phe13=)
|
rs2534408876
|
|
|
NM_001277115.2(DNAH11):c.4003T>A (p.Tyr1335Asn)
|
rs1194646068
|
|
|
NM_001277115.2(DNAH11):c.4005T>A (p.Tyr1335Ter)
|
rs769315133
|
|
|
NM_001277115.2(DNAH11):c.4005T>C (p.Tyr1335=)
|
rs769315133
|
|
|
NM_001277115.2(DNAH11):c.4011+11C>T
|
rs1416536411
|
|
|
NM_001277115.2(DNAH11):c.4011+16T>A
|
rs760965922
|
|
|
NM_001277115.2(DNAH11):c.4011+16del
|
rs2534690245
|
|
|
NM_001277115.2(DNAH11):c.4012-11del
|
rs2534693478
|
|
|
NM_001277115.2(DNAH11):c.4012-18C>T
|
rs776769782
|
|
|
NM_001277115.2(DNAH11):c.4012-1G>A
|
rs2534693553
|
|
|
NM_001277115.2(DNAH11):c.4012-20A>G
|
rs767315527
|
|
|
NM_001277115.2(DNAH11):c.4012-3C>A
|
rs1216609671
|
|
|
NM_001277115.2(DNAH11):c.4012-4del
|
rs1243705999
|
|
|
NM_001277115.2(DNAH11):c.4012-9C>T
|
rs1039778615
|
|
|
NM_001277115.2(DNAH11):c.4018A>G (p.Ile1340Val)
|
rs1222727084
|
|
|
NM_001277115.2(DNAH11):c.4026T>C (p.Asn1342=)
|
rs2534693609
|
|
|
NM_001277115.2(DNAH11):c.4032T>A (p.Thr1344=)
|
|
|
|
NM_001277115.2(DNAH11):c.4041G>T (p.Gln1347His)
|
|
|
|
NM_001277115.2(DNAH11):c.4044G>A (p.Trp1348Ter)
|
rs908792916
|
|
|
NM_001277115.2(DNAH11):c.4047A>G (p.Arg1349=)
|
rs2534693722
|
|
|
NM_001277115.2(DNAH11):c.4054C>G (p.His1352Asp)
|
rs757609611
|
|
|
NM_001277115.2(DNAH11):c.4057G>A (p.Val1353Met)
|
rs2534693811
|
|
|
NM_001277115.2(DNAH11):c.4062A>G (p.Glu1354=)
|
rs1785778629
|
|
|
NM_001277115.2(DNAH11):c.4070A>G (p.Asp1357Gly)
|
|
|
|
NM_001277115.2(DNAH11):c.4071T>C (p.Asp1357=)
|
rs779724592
|
|
|
NM_001277115.2(DNAH11):c.4077A>G (p.Glu1359=)
|
rs569466771
|
|
|
NM_001277115.2(DNAH11):c.4082G>C (p.Arg1361Thr)
|
rs2534693957
|
|
|
NM_001277115.2(DNAH11):c.4083_4085del (p.Arg1362del)
|
rs755391243
|
|
|
NM_001277115.2(DNAH11):c.4092C>T (p.Ala1364=)
|
rs2534694018
|
|
|
NM_001277115.2(DNAH11):c.4094A>C (p.Lys1365Thr)
|
rs1785780743
|
|
|
NM_001277115.2(DNAH11):c.4095+14C>G
|
|
|
|
NM_001277115.2(DNAH11):c.4095+15T>G
|
rs2128452657
|
|
|
NM_001277115.2(DNAH11):c.4095+2C>A
|
rs532007878
|
|
|
NM_001277115.2(DNAH11):c.4096-13C>T
|
rs1785836777
|
|
|
NM_001277115.2(DNAH11):c.4096-2A>G
|
rs1369201943
|
|
|
NM_001277115.2(DNAH11):c.4096-3del
|
rs779281205
|
|
|
NM_001277115.2(DNAH11):c.4096-8T>C
|
|
|
|
NM_001277115.2(DNAH11):c.4096-8T>G
|
rs770680639
|
|
|
NM_001277115.2(DNAH11):c.4103G>T (p.Trp1368Leu)
|
rs1345121959
|
|
|
NM_001277115.2(DNAH11):c.4114A>C (p.Lys1372Gln)
|
|
|
|
NM_001277115.2(DNAH11):c.4120G>T (p.Val1374Phe)
|
|
|
|
NM_001277115.2(DNAH11):c.4123C>G (p.Arg1375Gly)
|
rs775354685
|
|
|
NM_001277115.2(DNAH11):c.4123C>T (p.Arg1375Cys)
|
rs775354685
|
|
|
NM_001277115.2(DNAH11):c.4125C>A (p.Arg1375=)
|
rs570983771
|
|
|
NM_001277115.2(DNAH11):c.4125C>G (p.Arg1375=)
|
|
|
|
NM_001277115.2(DNAH11):c.4125C>T (p.Arg1375=)
|
rs570983771
|
|
|
NM_001277115.2(DNAH11):c.412G>A (p.Gly138Arg)
|
rs1216804983
|
|
|
NM_001277115.2(DNAH11):c.4142C>A (p.Thr1381Lys)
|
rs551195183
|
|
|
NM_001277115.2(DNAH11):c.4142C>G (p.Thr1381Arg)
|
rs551195183
|
|
|
NM_001277115.2(DNAH11):c.414A>G (p.Gly138=)
|
rs2534415857
|
|
|
NM_001277115.2(DNAH11):c.4153G>A (p.Gly1385Ser)
|
rs370872319
|
|
|
NM_001277115.2(DNAH11):c.4158A>G (p.Thr1386=)
|
rs772017805
|
|
|
NM_001277115.2(DNAH11):c.4162A>G (p.Lys1388Glu)
|
rs1230599261
|
|
|
NM_001277115.2(DNAH11):c.4164G>T (p.Lys1388Asn)
|
rs377689546
|
|
|
NM_001277115.2(DNAH11):c.4173A>G (p.Thr1391=)
|
|
|
|
NM_001277115.2(DNAH11):c.4176C>T (p.Ala1392=)
|
|
|
|
NM_001277115.2(DNAH11):c.4179C>T (p.Ser1393=)
|
rs1403365658
|
|
|
NM_001277115.2(DNAH11):c.417A>C (p.Val139=)
|
rs1583469182
|
|
|
NM_001277115.2(DNAH11):c.4180C>T (p.Leu1394=)
|
rs757974207
|
|
|
NM_001277115.2(DNAH11):c.4181T>A (p.Leu1394Gln)
|
rs1245739907
|
|
|
NM_001277115.2(DNAH11):c.4189A>C (p.Ile1397Leu)
|
|
|
|
NM_001277115.2(DNAH11):c.4193C>T (p.Thr1398Ile)
|
rs757118279
|
|
|
NM_001277115.2(DNAH11):c.4203G>C (p.Gln1401His)
|
rs773302246
|
|
|
NM_001277115.2(DNAH11):c.4216A>C (p.Arg1406=)
|
rs2128453136
|
|
|
NM_001277115.2(DNAH11):c.4218G>A (p.Arg1406=)
|
rs1016300664
|
|
|
NM_001277115.2(DNAH11):c.4224G>A (p.Arg1408=)
|
|
|
|
NM_001277115.2(DNAH11):c.4231_4235del (p.His1411fs)
|
rs2534699942
|
|
|
NM_001277115.2(DNAH11):c.4233C>G (p.His1411Gln)
|
rs773424828
|
|
|
NM_001277115.2(DNAH11):c.4239G>C (p.Leu1413=)
|
rs2534699967
|
|
|
NM_001277115.2(DNAH11):c.4254+10C>T
|
rs1265824280
|
|
|
NM_001277115.2(DNAH11):c.4254+11T>A
|
rs1330645497
|
|
|
NM_001277115.2(DNAH11):c.4254+16C>G
|
rs1190221410
|
|
|
NM_001277115.2(DNAH11):c.4254+16C>T
|
rs1190221410
|
|
|
NM_001277115.2(DNAH11):c.4254+1G>A
|
rs2128453160
|
|
|
NM_001277115.2(DNAH11):c.4254+5G>C
|
rs72657312
|
|
|
NM_001277115.2(DNAH11):c.4254+7A>G
|
rs2128453164
|
|
|
NM_001277115.2(DNAH11):c.4255-10C>T
|
|
|
|
NM_001277115.2(DNAH11):c.4255-11C>A
|
rs2534706782
|
|
|
NM_001277115.2(DNAH11):c.4255-12del
|
rs758841984
|
|
|
NM_001277115.2(DNAH11):c.4255-14T>G
|
rs1234735785
|
|
|
NM_001277115.2(DNAH11):c.4255-18T>G
|
rs1372173521
|
|
|
NM_001277115.2(DNAH11):c.4255-5A>T
|
rs753521886
|
|
|
NM_001277115.2(DNAH11):c.4255-8C>T
|
rs2128453713
|
|
|
NM_001277115.2(DNAH11):c.4259A>C (p.Lys1420Thr)
|
rs2534706881
|
|
|
NM_001277115.2(DNAH11):c.426T>C (p.Phe142=)
|
rs2534415935
|
|
|
NM_001277115.2(DNAH11):c.4273G>A (p.Glu1425Lys)
|
rs1448862370
|
|
|
NM_001277115.2(DNAH11):c.4273G>T (p.Glu1425Ter)
|
rs1448862370
|
|
|
NM_001277115.2(DNAH11):c.4285T>C (p.Leu1429=)
|
rs1388064376
|
|
|
NM_001277115.2(DNAH11):c.4289C>T (p.Ala1430Val)
|
rs768979467
|
|
|
NM_001277115.2(DNAH11):c.4291G>C (p.Asp1431His)
|
|
|
|
NM_001277115.2(DNAH11):c.4295T>C (p.Leu1432Ser)
|
|
|
|
NM_001277115.2(DNAH11):c.4296G>A (p.Leu1432=)
|
|
|
|
NM_001277115.2(DNAH11):c.429T>A (p.Ser143=)
|
rs777303498
|
|
|
NM_001277115.2(DNAH11):c.4306C>G (p.Arg1436Gly)
|
rs183489539
|
|
|
NM_001277115.2(DNAH11):c.4314C>A (p.His1438Gln)
|
|
|
|
NM_001277115.2(DNAH11):c.4314C>T (p.His1438=)
|
rs1463584190
|
|
|
NM_001277115.2(DNAH11):c.4316G>T (p.Arg1439Ile)
|
rs1785921849
|
|
|
NM_001277115.2(DNAH11):c.4318G>A (p.Val1440Met)
|
rs753773546
|
|
|
NM_001277115.2(DNAH11):c.4319T>C (p.Val1440Ala)
|
rs759450356
|
|
|
NM_001277115.2(DNAH11):c.4324G>A (p.Asp1442Asn)
|
rs1163732842
|
|
|
NM_001277115.2(DNAH11):c.4329T>C (p.Asp1443=)
|
rs2534707322
|
|
|
NM_001277115.2(DNAH11):c.4332C>G (p.Val1444=)
|
rs2534707340
|
|
|
NM_001277115.2(DNAH11):c.4335A>C (p.Arg1445=)
|
|
|
|
NM_001277115.2(DNAH11):c.4337G>C (p.Arg1446Thr)
|
rs1021905098
|
|
|
NM_001277115.2(DNAH11):c.434T>C (p.Val145Ala)
|
rs1220806469
|
|
|
NM_001277115.2(DNAH11):c.4364_4365delinsCT (p.Leu1455Pro)
|
rs2534707506
|
|
|
NM_001277115.2(DNAH11):c.4365G>A (p.Leu1455=)
|
rs1785924590
|
|
|
NM_001277115.2(DNAH11):c.4368G>A (p.Gly1456=)
|
rs780465868
|
|
|
NM_001277115.2(DNAH11):c.4370C>G (p.Thr1457Ser)
|
rs200220615
|
|
|
NM_001277115.2(DNAH11):c.4377+12G>C
|
rs763325413
|
|
|
NM_001277115.2(DNAH11):c.4377+16C>T
|
rs2534707647
|
|
|
NM_001277115.2(DNAH11):c.4377+18G>C
|
|
|
|
NM_001277115.2(DNAH11):c.4377+1G>A
|
rs2534707554
|
|
|
NM_001277115.2(DNAH11):c.4377G>A (p.Lys1459=)
|
rs1583534756
|
|
|
NM_001277115.2(DNAH11):c.4378-15A>G
|
rs368312086
|
|
|
NM_001277115.2(DNAH11):c.4378-17_4378-16insATTTA
|
rs57952953
|
|
|
NM_001277115.2(DNAH11):c.4378-17_4378-16insATTTG
|
rs1554322311
|
|
|
NM_001277115.2(DNAH11):c.4378-18_4378-17insGATTT
|
|
|
|
NM_001277115.2(DNAH11):c.4378-18dup
|
rs112373177
|
|
|
NM_001277115.2(DNAH11):c.4378-19_4378-18insCAATT
|
rs2534710700
|
|
|
NM_001277115.2(DNAH11):c.4378-1G>A
|
rs2534710940
|
|
|
NM_001277115.2(DNAH11):c.4378-5A>C
|
rs980220652
|
|
|
NM_001277115.2(DNAH11):c.4384A>T (p.Thr1462Ser)
|
|
|
|
NM_001277115.2(DNAH11):c.4385C>T (p.Thr1462Ile)
|
rs1785963511
|
|
|
NM_001277115.2(DNAH11):c.4390A>G (p.Ile1464Val)
|
rs2128454118
|
|
|
NM_001277115.2(DNAH11):c.4394G>T (p.Ser1465Ile)
|
rs762881285
|
|
|
NM_001277115.2(DNAH11):c.4395_4398del (p.Ser1465fs)
|
rs761764078
|
|
|
NM_001277115.2(DNAH11):c.4395dup (p.Gln1466fs)
|
rs1785964296
|
|
|
NM_001277115.2(DNAH11):c.4396C>T (p.Gln1466Ter)
|
rs2534711045
|
|
|
NM_001277115.2(DNAH11):c.4405G>A (p.Ala1469Thr)
|
rs2534711080
|
|
|
NM_001277115.2(DNAH11):c.4407A>G (p.Ala1469=)
|
|
|
|
NM_001277115.2(DNAH11):c.4411A>G (p.Met1471Val)
|
rs773365877
|
|
|
NM_001277115.2(DNAH11):c.4421C>T (p.Ser1474Phe)
|
rs1034436136
|
|
|
NM_001277115.2(DNAH11):c.4422T>C (p.Ser1474=)
|
|
|
|
NM_001277115.2(DNAH11):c.4425C>A (p.Tyr1475Ter)
|
rs373706559
|
|
|
NM_001277115.2(DNAH11):c.4439G>A (p.Arg1480Gln)
|
rs756873483
|
|
|
NM_001277115.2(DNAH11):c.4450C>A (p.Pro1484Thr)
|
rs769397725
|
|
|
NM_001277115.2(DNAH11):c.4450C>G (p.Pro1484Ala)
|
rs769397725
|
|
|
NM_001277115.2(DNAH11):c.4452A>C (p.Pro1484=)
|
rs780189424
|
|
|
NM_001277115.2(DNAH11):c.4452A>G (p.Pro1484=)
|
|
|
|
NM_001277115.2(DNAH11):c.4471C>T (p.Gln1491Ter)
|
rs2534711439
|
|
|
NM_001277115.2(DNAH11):c.4473A>G (p.Gln1491=)
|
rs2534711449
|
|
|
NM_001277115.2(DNAH11):c.4487T>C (p.Leu1496Pro)
|
rs2128454192
|
|
|
NM_001277115.2(DNAH11):c.4488A>G (p.Leu1496=)
|
rs2128454196
|
|
|
NM_001277115.2(DNAH11):c.4495A>G (p.Asn1499Asp)
|
|
|
|
NM_001277115.2(DNAH11):c.4495A>T (p.Asn1499Tyr)
|
rs764377953
|
|
|
NM_001277115.2(DNAH11):c.4497C>G (p.Asn1499Lys)
|
|
|
|
NM_001277115.2(DNAH11):c.44A>T (p.Glu15Val)
|
rs1387077003
|
|
|
NM_001277115.2(DNAH11):c.4500+18A>G
|
rs2534711786
|
|
|
NM_001277115.2(DNAH11):c.4500+19T>C
|
rs1001542108
|
|
|
NM_001277115.2(DNAH11):c.4500+20T>A
|
rs2534711799
|
|
|
NM_001277115.2(DNAH11):c.4500+9G>A
|
rs767971631
|
|
|
NM_001277115.2(DNAH11):c.4501-11C>T
|
rs2534771674
|
|
|
NM_001277115.2(DNAH11):c.4501-12C>G
|
rs775488038
|
|
|
NM_001277115.2(DNAH11):c.4501-13G>C
|
rs769864697
|
|
|
NM_001277115.2(DNAH11):c.4501-19T>C
|
rs2534771650
|
|
|
NM_001277115.2(DNAH11):c.4501-20A>G
|
rs2534771646
|
|
|
NM_001277115.2(DNAH11):c.4501-20A>T
|
rs2534771646
|
|
|
NM_001277115.2(DNAH11):c.4501-5T>C
|
|
|
|
NM_001277115.2(DNAH11):c.4501-8dup
|
rs772682528
|
|
|
NM_001277115.2(DNAH11):c.4503T>C (p.Val1501=)
|
rs2534771731
|
|
|
NM_001277115.2(DNAH11):c.4504C>T (p.Gln1502Ter)
|
rs774689207
|
|
|
NM_001277115.2(DNAH11):c.4509del (p.Leu1503fs)
|
rs1438226783
|
|
|
NM_001277115.2(DNAH11):c.4522C>A (p.Gln1508Lys)
|
rs765586672
|
|
|
NM_001277115.2(DNAH11):c.4525A>G (p.Ser1509Gly)
|
rs766003010
|
|
|
NM_001277115.2(DNAH11):c.4529A>G (p.Lys1510Arg)
|
rs753342468
|
|
|
NM_001277115.2(DNAH11):c.4529A>T (p.Lys1510Met)
|
rs753342468
|
|
|
NM_001277115.2(DNAH11):c.4530G>A (p.Lys1510=)
|
rs1049172922
|
|
|
NM_001277115.2(DNAH11):c.4532A>G (p.Tyr1511Cys)
|
rs565283604
|
|
|
NM_001277115.2(DNAH11):c.4544T>G (p.Phe1515Cys)
|
rs1414350807
|
|
|
NM_001277115.2(DNAH11):c.454C>A (p.Pro152Thr)
|
rs746622545
|
|
|
NM_001277115.2(DNAH11):c.4552C>G (p.Gln1518Glu)
|
rs369681389
|
|
|
NM_001277115.2(DNAH11):c.4552C>T (p.Gln1518Ter)
|
rs369681389
|
|
|
NM_001277115.2(DNAH11):c.4554A>C (p.Gln1518His)
|
|
|
|
NM_001277115.2(DNAH11):c.4567C>T (p.Gln1523Ter)
|
rs1286036654
|
|
|
NM_001277115.2(DNAH11):c.4570A>C (p.Asn1524His)
|
rs2534772076
|
|
|
NM_001277115.2(DNAH11):c.4575A>G (p.Lys1525=)
|
rs774981004
|
|
|
NM_001277115.2(DNAH11):c.4576T>A (p.Leu1526Ile)
|
rs199559539
|
|
|
NM_001277115.2(DNAH11):c.4580A>G (p.Asn1527Ser)
|
rs1343401746
|
|
|
NM_001277115.2(DNAH11):c.4581C>T (p.Asn1527=)
|
rs766093573
|
|
|
NM_001277115.2(DNAH11):c.458C>T (p.Ala153Val)
|
rs1583469217
|
|
|
NM_001277115.2(DNAH11):c.4599C>T (p.Ile1533=)
|
rs1031903018
|
|
|
NM_001277115.2(DNAH11):c.4621C>A (p.Arg1541=)
|
rs757013900
|
|
|
NM_001277115.2(DNAH11):c.4625C>T (p.Thr1542Ile)
|
rs953927007
|
|
|
NM_001277115.2(DNAH11):c.4631C>G (p.Ser1544Cys)
|
rs1370594077
|
|
|
NM_001277115.2(DNAH11):c.4644C>T (p.Ser1548=)
|
rs375661112
|
|
|
NM_001277115.2(DNAH11):c.4645A>G (p.Ile1549Val)
|
rs1488994370
|
|
|
NM_001277115.2(DNAH11):c.4653C>G (p.Val1551=)
|
|
|
|
NM_001277115.2(DNAH11):c.4655G>C (p.Cys1552Ser)
|
|
|
|
NM_001277115.2(DNAH11):c.4658C>G (p.Ser1553Ter)
|
rs1786848141
|
|
|
NM_001277115.2(DNAH11):c.4659A>G (p.Ser1553=)
|
|
|
|
NM_001277115.2(DNAH11):c.4664A>G (p.Asp1555Gly)
|
rs761164414
|
|
|
NM_001277115.2(DNAH11):c.4670G>T (p.Arg1557Leu)
|
|
|
|
NM_001277115.2(DNAH11):c.4671A>G (p.Arg1557=)
|
rs2534772422
|
|
|
NM_001277115.2(DNAH11):c.4673_4725+36del
|
rs2534772431
|
|
|
NM_001277115.2(DNAH11):c.4683G>A (p.Val1561=)
|
rs762920448
|
|
|
NM_001277115.2(DNAH11):c.4688A>G (p.Asp1563Gly)
|
rs1442419869
|
|
|
NM_001277115.2(DNAH11):c.4689T>C (p.Asp1563=)
|
rs2534772497
|
|
|
NM_001277115.2(DNAH11):c.4691C>G (p.Ala1564Gly)
|
|
|
|
NM_001277115.2(DNAH11):c.4707G>C (p.Gly1569=)
|
rs780784315
|
|
|
NM_001277115.2(DNAH11):c.4707G>T (p.Gly1569=)
|
rs780784315
|
|
|
NM_001277115.2(DNAH11):c.4725+13C>G
|
rs2128459464
|
|
|
NM_001277115.2(DNAH11):c.4725+5G>A
|
rs2534772673
|
|
|
NM_001277115.2(DNAH11):c.4726-16T>C
|
rs2534777177
|
|
|
NM_001277115.2(DNAH11):c.4726-1G>A
|
rs72657326
|
|
|
NM_001277115.2(DNAH11):c.4726-2A>G
|
rs2534777249
|
|
|
NM_001277115.2(DNAH11):c.4726-5T>C
|
rs532246469
|
|
|
NM_001277115.2(DNAH11):c.4737C>T (p.Phe1579=)
|
|
|
|
NM_001277115.2(DNAH11):c.473A>G (p.His158Arg)
|
rs1562650204
|
|
|
NM_001277115.2(DNAH11):c.474T>C (p.His158=)
|
|
|
|
NM_001277115.2(DNAH11):c.4752dup (p.Glu1585fs)
|
rs2128459908
|
|
|
NM_001277115.2(DNAH11):c.4760T>C (p.Val1587Ala)
|
rs758562003
|
|
|
NM_001277115.2(DNAH11):c.4761G>A (p.Val1587=)
|
rs1348738729
|
|
|
NM_001277115.2(DNAH11):c.4773G>T (p.Thr1591=)
|
rs746316169
|
|
|
NM_001277115.2(DNAH11):c.477A>G (p.Val159=)
|
rs1367239110
|
|
|
NM_001277115.2(DNAH11):c.4785T>C (p.Asn1595=)
|
rs770148208
|
|
|
NM_001277115.2(DNAH11):c.4785T>G (p.Asn1595Lys)
|
rs770148208
|
|
|
NM_001277115.2(DNAH11):c.4788C>T (p.Leu1596=)
|
|
|
|
NM_001277115.2(DNAH11):c.4791T>A (p.Tyr1597Ter)
|
rs748873603
|
|
|
NM_001277115.2(DNAH11):c.4797A>G (p.Lys1599=)
|
|
|
|
NM_001277115.2(DNAH11):c.4799T>G (p.Leu1600Arg)
|
|
|
|
NM_001277115.2(DNAH11):c.4802A>C (p.Lys1601Thr)
|
rs367625336
|
|
|
NM_001277115.2(DNAH11):c.4802A>G (p.Lys1601Arg)
|
rs367625336
|
|
|
NM_001277115.2(DNAH11):c.4804G>A (p.Asp1602Asn)
|
rs1301123028
|
|
|
NM_001277115.2(DNAH11):c.4809A>G (p.Leu1603=)
|
rs2128459924
|
|
|
NM_001277115.2(DNAH11):c.4816A>G (p.Arg1606Gly)
|
rs531592483
|
|
|
NM_001277115.2(DNAH11):c.4817+12G>A
|
rs547158661
|
|
|
NM_001277115.2(DNAH11):c.4817+12G>T
|
rs547158661
|
|
|
NM_001277115.2(DNAH11):c.4817+13C>A
|
rs1786935034
|
|
|
NM_001277115.2(DNAH11):c.4817+14T>A
|
rs1417813129
|
|
|
NM_001277115.2(DNAH11):c.4817+1_4817+16del
|
rs2534777695
|
|
|
NM_001277115.2(DNAH11):c.4817+6A>T
|
rs1006884453
|
|
|
NM_001277115.2(DNAH11):c.4818-10A>T
|
rs1786992968
|
|
|
NM_001277115.2(DNAH11):c.4818-13T>G
|
rs2534781205
|
|
|
NM_001277115.2(DNAH11):c.4818-17A>G
|
rs1786992620
|
|
|
NM_001277115.2(DNAH11):c.4818-2A>G
|
rs886044152
|
|
|
NM_001277115.2(DNAH11):c.4818-6A>G
|
rs764444413
|
|
|
NM_001277115.2(DNAH11):c.4818-6A>T
|
rs764444413
|
|
|
NM_001277115.2(DNAH11):c.4818-8T>G
|
rs763309469
|
|
|
NM_001277115.2(DNAH11):c.4818G>C (p.Arg1606Ser)
|
rs757299381
|
|
|
NM_001277115.2(DNAH11):c.4824T>C (p.Ser1608=)
|
rs2534781310
|
|
|
NM_001277115.2(DNAH11):c.4825C>T (p.Leu1609Phe)
|
rs886062177
|
|
|
NM_001277115.2(DNAH11):c.4829G>C (p.Cys1610Ser)
|
rs750959340
|
|
|
NM_001277115.2(DNAH11):c.482C>T (p.Ala161Val)
|
rs775398020
|
|
|
NM_001277115.2(DNAH11):c.4833A>G (p.Glu1611=)
|
|
|
|
NM_001277115.2(DNAH11):c.4845T>C (p.Ala1615=)
|
rs2534781410
|
|
|
NM_001277115.2(DNAH11):c.4860C>G (p.Thr1620=)
|
rs771484145
|
|
|
NM_001277115.2(DNAH11):c.4860C>T (p.Thr1620=)
|
rs771484145
|
|
|
NM_001277115.2(DNAH11):c.486C>T (p.Phe162=)
|
rs2534416257
|
|
|
NM_001277115.2(DNAH11):c.4891G>T (p.Val1631Phe)
|
rs766901693
|
|
|
NM_001277115.2(DNAH11):c.4899T>A (p.Ser1633=)
|
rs1786999228
|
|
|
NM_001277115.2(DNAH11):c.4910T>G (p.Leu1637Arg)
|
rs1213325028
|
|
|
NM_001277115.2(DNAH11):c.4914C>T (p.Asp1638=)
|
|
|
|
NM_001277115.2(DNAH11):c.4915A>C (p.Ile1639Leu)
|
rs777191347
|
|
|
NM_001277115.2(DNAH11):c.4915A>T (p.Ile1639Phe)
|
rs777191347
|
|
|
NM_001277115.2(DNAH11):c.491A>G (p.Asp164Gly)
|
rs1342908676
|
|
|
NM_001277115.2(DNAH11):c.491A>T (p.Asp164Val)
|
rs1342908676
|
|
|
NM_001277115.2(DNAH11):c.4920C>G (p.Leu1640=)
|
rs746563330
|
|
|
NM_001277115.2(DNAH11):c.4932T>C (p.Ala1644=)
|
rs1390275151
|
|
|
NM_001277115.2(DNAH11):c.4933C>T (p.Gln1645Ter)
|
rs2534781832
|
|
|
NM_001277115.2(DNAH11):c.4937C>G (p.Pro1646Arg)
|
|
|
|
NM_001277115.2(DNAH11):c.493G>A (p.Glu165Lys)
|
rs1782756343
|
|
|
NM_001277115.2(DNAH11):c.4942C>G (p.Gln1648Glu)
|
rs373372239
|
|
|
NM_001277115.2(DNAH11):c.4944+14T>C
|
rs1787003414
|
|
|
NM_001277115.2(DNAH11):c.4944+14del
|
rs759113331
|
|
|
NM_001277115.2(DNAH11):c.4944+14dup
|
rs759113331
|
|
|
NM_001277115.2(DNAH11):c.4944+15G>C
|
|
|
|
NM_001277115.2(DNAH11):c.4944+2T>C
|
rs2534781889
|
|
|
NM_001277115.2(DNAH11):c.4944+6A>G
|
rs761989552
|
|
|
NM_001277115.2(DNAH11):c.4944+7T>C
|
rs1787002901
|
|
|
NM_001277115.2(DNAH11):c.4944+8T>A
|
|
|
|
NM_001277115.2(DNAH11):c.4945-10C>T
|
rs1398049614
|
|
|
NM_001277115.2(DNAH11):c.4945-13A>G
|
rs1781990531
|
|
|
NM_001277115.2(DNAH11):c.4945-15A>T
|
rs373118205
|
|
|
NM_001277115.2(DNAH11):c.4945-5T>G
|
rs886038468
|
|
|
NM_001277115.2(DNAH11):c.4945-6T>C
|
rs2534829973
|
|
|
NM_001277115.2(DNAH11):c.4945-8C>T
|
rs1781990881
|
|
|
NM_001277115.2(DNAH11):c.4945-8del
|
rs1427659505
|
|
|
NM_001277115.2(DNAH11):c.4949C>T (p.Thr1650Ile)
|
rs1374375239
|
|
|
NM_001277115.2(DNAH11):c.495+11G>T
|
rs1317549312
|
|
|
NM_001277115.2(DNAH11):c.495+12_495+13insGATGAGTACTGCTTTC
|
|
|
|
NM_001277115.2(DNAH11):c.495+13C>T
|
|
|
|
NM_001277115.2(DNAH11):c.495+16T>G
|
rs1782757432
|
|
|
NM_001277115.2(DNAH11):c.495+18A>T
|
rs779666043
|
|
|
NM_001277115.2(DNAH11):c.495+1G>T
|
rs377623604
|
|
|
NM_001277115.2(DNAH11):c.4950_4951del (p.Cys1651fs)
|
rs1583567611
|
|
|
NM_001277115.2(DNAH11):c.4962C>T (p.Ala1654=)
|
rs767186276
|
|
|
NM_001277115.2(DNAH11):c.4964A>T (p.Lys1655Ile)
|
rs371049362
|
|
|
NM_001277115.2(DNAH11):c.4969_4970del (p.Phe1657fs)
|
rs868313799
|
|
|
NM_001277115.2(DNAH11):c.4974C>T (p.Asp1658=)
|
rs1781993614
|
|
|
NM_001277115.2(DNAH11):c.4976G>A (p.Ser1659Asn)
|
rs754803477
|
|
|
NM_001277115.2(DNAH11):c.4977C>T (p.Ser1659=)
|
rs1265908588
|
|
|
NM_001277115.2(DNAH11):c.4978A>G (p.Ile1660Val)
|
rs1485427395
|
|
|
NM_001277115.2(DNAH11):c.4987C>G (p.Leu1663Val)
|
rs541180386
|
|
|
NM_001277115.2(DNAH11):c.4995T>G (p.Phe1665Leu)
|
rs1421038751
|
|
|
NM_001277115.2(DNAH11):c.4998A>G (p.Glu1666=)
|
rs2534830342
|
|
|
NM_001277115.2(DNAH11):c.5000A>G (p.Asp1667Gly)
|
|
|
|
NM_001277115.2(DNAH11):c.5003A>G (p.Asn1668Ser)
|
rs745974547
|
|
|
NM_001277115.2(DNAH11):c.5005C>T (p.Gln1669Ter)
|
rs2534830355
|
|
|
NM_001277115.2(DNAH11):c.5009A>T (p.Asp1670Val)
|
rs368565591
|
|
|
NM_001277115.2(DNAH11):c.5019A>C (p.Ala1673=)
|
rs2534830396
|
|
|
NM_001277115.2(DNAH11):c.5020C>T (p.His1674Tyr)
|
rs1452090160
|
|
|
NM_001277115.2(DNAH11):c.5062C>G (p.Pro1688Ala)
|
|
|
|
NM_001277115.2(DNAH11):c.5064A>G (p.Pro1688=)
|
|
|
|
NM_001277115.2(DNAH11):c.5067C>A (p.Phe1689Leu)
|
rs374856649
|
|
|
NM_001277115.2(DNAH11):c.5068C>A (p.Gln1690Lys)
|
rs1254903583
|
|
|
NM_001277115.2(DNAH11):c.5076G>A (p.Glu1692=)
|
rs1218348910
|
|
|
NM_001277115.2(DNAH11):c.5078G>C (p.Cys1693Ser)
|
rs1249207222
|
|
|
NM_001277115.2(DNAH11):c.507A>C (p.Pro169=)
|
rs538647052
|
|
|
NM_001277115.2(DNAH11):c.5081A>T (p.Glu1694Val)
|
|
|
|
NM_001277115.2(DNAH11):c.5087T>G (p.Val1696Gly)
|
rs781408519
|
|
|
NM_001277115.2(DNAH11):c.508G>A (p.Val170Ile)
|
rs753174102
|
|
|
NM_001277115.2(DNAH11):c.5094+1G>A
|
rs746014324
|
|
|
NM_001277115.2(DNAH11):c.5094+20T>C
|
rs762290397
|
|
|
NM_001277115.2(DNAH11):c.5094+20T>G
|
rs762290397
|
|
|
NM_001277115.2(DNAH11):c.5094+2T>G
|
rs1583567778
|
|
|
NM_001277115.2(DNAH11):c.5094+4A>G
|
rs769984539
|
|
|
NM_001277115.2(DNAH11):c.5095-14A>G
|
|
|
|
NM_001277115.2(DNAH11):c.5095-1G>A
|
rs2534838713
|
|
|
NM_001277115.2(DNAH11):c.5095-8T>C
|
|
|
|
NM_001277115.2(DNAH11):c.50C>T (p.Pro17Leu)
|
rs1358408381
|
|
|
NM_001277115.2(DNAH11):c.5103A>G (p.Thr1701=)
|
rs748596773
|
|
|
NM_001277115.2(DNAH11):c.5118T>G (p.Leu1706=)
|
|
|
|
NM_001277115.2(DNAH11):c.5121A>G (p.Glu1707=)
|
rs2534838808
|
|
|
NM_001277115.2(DNAH11):c.5131C>T (p.Gln1711Ter)
|
rs2534838847
|
|
|
NM_001277115.2(DNAH11):c.5136A>G (p.Glu1712=)
|
rs2534838859
|
|
|
NM_001277115.2(DNAH11):c.5139G>A (p.Thr1713=)
|
rs758984750
|
|
|
NM_001277115.2(DNAH11):c.5139G>C (p.Thr1713=)
|
rs758984750
|
|
|
NM_001277115.2(DNAH11):c.5140G>T (p.Val1714Leu)
|
|
|
|
NM_001277115.2(DNAH11):c.5144G>C (p.Arg1715Pro)
|
rs763926220
|
|
|
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.5157A>G (p.Thr1719=)
|
rs149538783
|
|
|
NM_001277115.2(DNAH11):c.5163C>A (p.Ala1721=)
|
|
|
|
NM_001277115.2(DNAH11):c.5163C>T (p.Ala1721=)
|
rs1240715223
|
|
|
NM_001277115.2(DNAH11):c.5163_5164insCAGCC (p.Ile1722fs)
|
|
|
|
NM_001277115.2(DNAH11):c.5164A>G (p.Ile1722Val)
|
rs1303227208
|
|
|
NM_001277115.2(DNAH11):c.5164A>T (p.Ile1722Leu)
|
rs1303227208
|
|
|
NM_001277115.2(DNAH11):c.5172C>T (p.Ala1724=)
|
rs778238497
|
|
|
NM_001277115.2(DNAH11):c.5175C>T (p.Tyr1725=)
|
rs747361665
|
|
|
NM_001277115.2(DNAH11):c.5186C>A (p.Pro1729His)
|
rs778885238
|
|
|
NM_001277115.2(DNAH11):c.5187T>C (p.Pro1729=)
|
rs2534839126
|
|
|
NM_001277115.2(DNAH11):c.5192A>T (p.Glu1731Val)
|
rs1401504319
|
|
|
NM_001277115.2(DNAH11):c.5199G>A (p.Trp1733Ter)
|
rs1782130455
|
|
|
NM_001277115.2(DNAH11):c.51G>A (p.Pro17=)
|
rs1402035790
|
|
|
NM_001277115.2(DNAH11):c.5220_5238del (p.Gln1740fs)
|
|
|
|
NM_001277115.2(DNAH11):c.5224G>A (p.Ala1742Thr)
|
rs764052634
|
|
|
NM_001277115.2(DNAH11):c.5228_5231del (p.Leu1743fs)
|
rs2534839400
|
|
|
NM_001277115.2(DNAH11):c.5230A>C (p.Thr1744Pro)
|
rs2534839412
|
|
|
NM_001277115.2(DNAH11):c.5232C>T (p.Thr1744=)
|
rs1782131771
|
|
|
NM_001277115.2(DNAH11):c.5235C>T (p.Ser1745=)
|
rs2534839436
|
|
|
NM_001277115.2(DNAH11):c.5236T>C (p.Ser1746Pro)
|
|
|
|
NM_001277115.2(DNAH11):c.5237C>T (p.Ser1746Leu)
|
rs1190231594
|
|
|
NM_001277115.2(DNAH11):c.5247G>A (p.Trp1749Ter)
|
rs2128465955
|
|
|
NM_001277115.2(DNAH11):c.5249G>A (p.Trp1750Ter)
|
|
|
|
NM_001277115.2(DNAH11):c.5250G>A (p.Trp1750Ter)
|
|
|
|
NM_001277115.2(DNAH11):c.5252C>T (p.Thr1751Ile)
|
rs1421235516
|
|
|
NM_001277115.2(DNAH11):c.5253C>A (p.Thr1751=)
|
rs1782132531
|
|
|
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.5262A>C (p.Val1754=)
|
rs370864058
|
|
|
NM_001277115.2(DNAH11):c.5279G>A (p.Arg1760Lys)
|
rs1279470250
|
|
|
NM_001277115.2(DNAH11):c.5281C>A (p.Leu1761Met)
|
rs1437272826
|
|
|
NM_001277115.2(DNAH11):c.5286A>G (p.Glu1762=)
|
rs781612152
|
|
|
NM_001277115.2(DNAH11):c.5292C>A (p.Gly1764=)
|
rs1325674184
|
|
|
NM_001277115.2(DNAH11):c.5293T>A (p.Tyr1765Asn)
|
rs1782134654
|
|
|
NM_001277115.2(DNAH11):c.529C>G (p.His177Asp)
|
rs752016007
|
|
|
NM_001277115.2(DNAH11):c.5307G>A (p.Leu1769=)
|
rs748820452
|
|
|
NM_001277115.2(DNAH11):c.530A>G (p.His177Arg)
|
rs757608896
|
|
|
NM_001277115.2(DNAH11):c.5313T>C (p.Asp1771=)
|
rs768153929
|
|
|
NM_001277115.2(DNAH11):c.531del (p.His177fs)
|
rs2534460277
|
|
|
NM_001277115.2(DNAH11):c.5322A>G (p.Lys1774=)
|
|
|
|
NM_001277115.2(DNAH11):c.5327A>T (p.Gln1776Leu)
|
rs886062178
|
|
|
NM_001277115.2(DNAH11):c.5328+10A>G
|
rs1782136794
|
|
|
NM_001277115.2(DNAH11):c.5328+14T>A
|
|
|
|
NM_001277115.2(DNAH11):c.5328+15T>G
|
rs2534839868
|
|
|
NM_001277115.2(DNAH11):c.5328+15TG[3]
|
rs2534839872
|
|
|
NM_001277115.2(DNAH11):c.5328+17T>C
|
rs2534839884
|
|
|
NM_001277115.2(DNAH11):c.5328+20T>C
|
rs2534839893
|
|
|
NM_001277115.2(DNAH11):c.5328+3A>G
|
rs1583570354
|
|
|
NM_001277115.2(DNAH11):c.5329-12G>T
|
rs1783136178
|
|
|
NM_001277115.2(DNAH11):c.5329-19A>C
|
rs748084989
|
|
|
NM_001277115.2(DNAH11):c.5329-20T>C
|
|
|
|
NM_001277115.2(DNAH11):c.5329-2A>G
|
rs932177093
|
|
|
NM_001277115.2(DNAH11):c.5329-4C>A
|
rs1783136941
|
|
|
NM_001277115.2(DNAH11):c.5336_5337delinsCC (p.Gln1779Pro)
|
rs2534899870
|
|
|
NM_001277115.2(DNAH11):c.5338C>T (p.Leu1780=)
|
rs775924844
|
|
|
NM_001277115.2(DNAH11):c.5349_5352del (p.Ile1784fs)
|
rs778733267
|
|
|
NM_001277115.2(DNAH11):c.5355A>C (p.Thr1785=)
|
rs2534899944
|
|
|
NM_001277115.2(DNAH11):c.5367A>G (p.Gly1789=)
|
rs2534900012
|
|
|
NM_001277115.2(DNAH11):c.5370A>G (p.Glu1790=)
|
rs1583589353
|
|
|
NM_001277115.2(DNAH11):c.5381G>C (p.Gly1794Ala)
|
rs1395753085
|
|
|
NM_001277115.2(DNAH11):c.5385C>G (p.Asp1795Glu)
|
rs2128472348
|
|
|
NM_001277115.2(DNAH11):c.5390A>G (p.Gln1797Arg)
|
|
|
|
NM_001277115.2(DNAH11):c.5394G>A (p.Lys1798=)
|
rs1214029970
|
|
|
NM_001277115.2(DNAH11):c.53C>T (p.Thr18Ile)
|
rs1039233944
|
|
|
NM_001277115.2(DNAH11):c.5406T>A (p.Ile1802=)
|
rs777863979
|
|
|
NM_001277115.2(DNAH11):c.5416G>A (p.Asp1806Asn)
|
rs768955174
|
|
|
NM_001277115.2(DNAH11):c.5418T>C (p.Asp1806=)
|
rs2534900288
|
|
|
NM_001277115.2(DNAH11):c.5421C>A (p.Val1807=)
|
rs2534900300
|
|
|
NM_001277115.2(DNAH11):c.5427C>T (p.Ala1809=)
|
rs372177670
|
|
|
NM_001277115.2(DNAH11):c.5429G>A (p.Arg1810Lys)
|
rs767520808
|
|
|
NM_001277115.2(DNAH11):c.5436G>A (p.Val1812=)
|
rs754198791
|
|
|
NM_001277115.2(DNAH11):c.5444A>G (p.Lys1815Arg)
|
rs755254894
|
|
|
NM_001277115.2(DNAH11):c.5447T>G (p.Leu1816Arg)
|
rs1783143270
|
|
|
NM_001277115.2(DNAH11):c.5448T>A (p.Leu1816=)
|
rs757927176
|
|
|
NM_001277115.2(DNAH11):c.5448T>G (p.Leu1816=)
|
rs757927176
|
|
|
NM_001277115.2(DNAH11):c.5452T>A (p.Ser1818Thr)
|
rs1583589486
|
|
|
NM_001277115.2(DNAH11):c.5460+11T>C
|
rs746994367
|
|
|
NM_001277115.2(DNAH11):c.5460+13T>C
|
|
|
|
NM_001277115.2(DNAH11):c.5461-10A>G
|
rs759954017
|
|
|
NM_001277115.2(DNAH11):c.5461-12C>T
|
rs1172751114
|
|
|
NM_001277115.2(DNAH11):c.5461-13G>A
|
rs2534906131
|
|
|
NM_001277115.2(DNAH11):c.5461-16T>G
|
rs1583591343
|
|
|
NM_001277115.2(DNAH11):c.5461-8G>T
|
rs963415898
|
|
|
NM_001277115.2(DNAH11):c.5466C>A (p.Val1822=)
|
rs2534906196
|
|
|
NM_001277115.2(DNAH11):c.546T>A (p.Cys182Ter)
|
rs1554309352
|
|
|
NM_001277115.2(DNAH11):c.5483C>T (p.Thr1828Ile)
|
|
|
|
NM_001277115.2(DNAH11):c.5484A>T (p.Thr1828=)
|
|
|
|
NM_001277115.2(DNAH11):c.5498T>G (p.Leu1833Arg)
|
|
|
|
NM_001277115.2(DNAH11):c.5505C>G (p.His1835Gln)
|
rs368778303
|
|
|
NM_001277115.2(DNAH11):c.5506C>A (p.Arg1836=)
|
rs370080269
|
|
|
NM_001277115.2(DNAH11):c.5506C>G (p.Arg1836Gly)
|
|
|
|
NM_001277115.2(DNAH11):c.5506C>T (p.Arg1836Ter)
|
rs370080269
|
|
|
NM_001277115.2(DNAH11):c.5511G>T (p.Trp1837Cys)
|
rs886038469
|
|
|
NM_001277115.2(DNAH11):c.5513A>G (p.Glu1838Gly)
|
rs777981590
|
|
|
NM_001277115.2(DNAH11):c.5520C>A (p.Thr1840=)
|
rs2534906548
|
|
|
NM_001277115.2(DNAH11):c.5526A>G (p.Lys1842=)
|
rs2128473055
|
|
|
NM_001277115.2(DNAH11):c.5529C>A (p.His1843Gln)
|
|
|
|
NM_001277115.2(DNAH11):c.5534T>C (p.Phe1845Ser)
|
|
|
|
NM_001277115.2(DNAH11):c.5537T>A (p.Val1846Asp)
|
rs727502968
|
|
|
NM_001277115.2(DNAH11):c.5558del (p.Phe1853fs)
|
rs2534906714
|
|
|
NM_001277115.2(DNAH11):c.5568C>A (p.Phe1856Leu)
|
rs1380369039
|
|
|
NM_001277115.2(DNAH11):c.5573A>C (p.Glu1858Ala)
|
rs2534906794
|
|
|
NM_001277115.2(DNAH11):c.5586C>G (p.Asn1862Lys)
|
rs1783251924
|
|
|
NM_001277115.2(DNAH11):c.5594G>T (p.Arg1865Leu)
|
rs749869317
|
|
|
NM_001277115.2(DNAH11):c.5595A>G (p.Arg1865=)
|
rs1484693970
|
|
|
NM_001277115.2(DNAH11):c.55C>T (p.Leu19Phe)
|
rs2534409005
|
|
|
NM_001277115.2(DNAH11):c.5601G>C (p.Val1867=)
|
rs753712934
|
|
|
NM_001277115.2(DNAH11):c.5605A>C (p.Thr1869Pro)
|
rs1783253288
|
|
|
NM_001277115.2(DNAH11):c.560A>G (p.Asp187Gly)
|
rs1429396416
|
|
|
NM_001277115.2(DNAH11):c.5613_5616del (p.Asp1873fs)
|
rs753074450
|
|
|
NM_001277115.2(DNAH11):c.5621+17T>G
|
rs1379542158
|
|
|
NM_001277115.2(DNAH11):c.5621+20G>A
|
rs372643687
|
|
|
NM_001277115.2(DNAH11):c.5621+20G>C
|
rs372643687
|
|
|
NM_001277115.2(DNAH11):c.5621+20G>T
|
rs372643687
|
|
|
NM_001277115.2(DNAH11):c.5622-11A>C
|
rs145940768
|
|
|
NM_001277115.2(DNAH11):c.5622-11A>G
|
rs145940768
|
|
|
NM_001277115.2(DNAH11):c.5622-13C>G
|
rs1783404916
|
|
|
NM_001277115.2(DNAH11):c.5622-1G>A
|
rs2128473916
|
|
|
NM_001277115.2(DNAH11):c.5622-1G>T
|
rs2128473916
|
|
|
NM_001277115.2(DNAH11):c.5631T>C (p.Ile1877=)
|
rs1783406043
|
|
|
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.5639C>A (p.Thr1880Asn)
|
rs1245853002
|
|
|
NM_001277115.2(DNAH11):c.563T>C (p.Met188Thr)
|
rs768697972
|
|
|
NM_001277115.2(DNAH11):c.563T>G (p.Met188Arg)
|
rs768697972
|
|
|
NM_001277115.2(DNAH11):c.5643A>G (p.Gln1881=)
|
rs1477174216
|
|
|
NM_001277115.2(DNAH11):c.5643dup (p.Ser1882fs)
|
rs2534915969
|
|
|
NM_001277115.2(DNAH11):c.5670T>C (p.Ala1890=)
|
rs2534916136
|
|
|
NM_001277115.2(DNAH11):c.5675C>A (p.Ala1892Asp)
|
rs534484091
|
|
|
NM_001277115.2(DNAH11):c.5675C>T (p.Ala1892Val)
|
rs534484091
|
|
|
NM_001277115.2(DNAH11):c.5679C>T (p.Gly1893=)
|
rs1783409628
|
|
|
NM_001277115.2(DNAH11):c.5683G>T (p.Ala1895Ser)
|
rs759008375
|
|
|
NM_001277115.2(DNAH11):c.5688T>C (p.Gly1896=)
|
rs2534916237
|
|
|
NM_001277115.2(DNAH11):c.5691C>G (p.Thr1897=)
|
rs200388712
|
|
|
NM_001277115.2(DNAH11):c.5692G>A (p.Gly1898Arg)
|
rs767246053
|
|
|
NM_001277115.2(DNAH11):c.5694G>A (p.Gly1898=)
|
rs1487753853
|
|
|
NM_001277115.2(DNAH11):c.5699_5700del (p.Thr1900fs)
|
rs1783410926
|
|
|
NM_001277115.2(DNAH11):c.570T>C (p.Tyr190=)
|
rs2534460486
|
|
|
NM_001277115.2(DNAH11):c.5710A>G (p.Lys1904Glu)
|
|
|
|
NM_001277115.2(DNAH11):c.5726C>T (p.Ala1909Val)
|
rs1311863081
|
|
|
NM_001277115.2(DNAH11):c.5737_5740dup (p.Val1914fs)
|
rs2534916472
|
|
|
NM_001277115.2(DNAH11):c.5739G>A (p.Met1913Ile)
|
rs1213964733
|
|
|
NM_001277115.2(DNAH11):c.5740G>A (p.Val1914Ile)
|
rs201671992
|
|
|
NM_001277115.2(DNAH11):c.5742C>T (p.Val1914=)
|
rs2128473951
|
|
|
NM_001277115.2(DNAH11):c.5748A>G (p.Val1916=)
|
rs2128473955
|
|
|
NM_001277115.2(DNAH11):c.5753A>C (p.Asn1918Thr)
|
|
|
|
NM_001277115.2(DNAH11):c.5754C>G (p.Asn1918Lys)
|
rs2534916579
|
|
|
NM_001277115.2(DNAH11):c.5757T>C (p.Cys1919=)
|
rs768387846
|
|
|
NM_001277115.2(DNAH11):c.5758_5759insA (p.Ser1920fs)
|
|
|
|
NM_001277115.2(DNAH11):c.575T>A (p.Ile192Lys)
|
rs2534460536
|
|
|
NM_001277115.2(DNAH11):c.5767A>C (p.Met1923Leu)
|
|
|
|
NM_001277115.2(DNAH11):c.5778+10_5778+13del
|
rs767658473
|
|
|
NM_001277115.2(DNAH11):c.5778+12A>G
|
rs2534916719
|
|
|
NM_001277115.2(DNAH11):c.5778+13G>A
|
rs2128473962
|
|
|
NM_001277115.2(DNAH11):c.5778+13G>C
|
|
|
|
NM_001277115.2(DNAH11):c.5778+7_5778+10del
|
rs757854447
|
|
|
NM_001277115.2(DNAH11):c.5779-14A>G
|
rs2534917059
|
|
|
NM_001277115.2(DNAH11):c.5779-1G>C
|
rs2534917103
|
|
|
NM_001277115.2(DNAH11):c.5779-9A>C
|
rs2534917081
|
|
|
NM_001277115.2(DNAH11):c.5787C>A (p.Gly1929=)
|
rs777060694
|
|
|
NM_001277115.2(DNAH11):c.5793C>T (p.Ile1931=)
|
|
|
|
NM_001277115.2(DNAH11):c.5795A>C (p.Tyr1932Ser)
|
rs375442328
|
|
|
NM_001277115.2(DNAH11):c.5795A>G (p.Tyr1932Cys)
|
|
|
|
NM_001277115.2(DNAH11):c.5798A>C (p.Lys1933Thr)
|
rs751945603
|
|
|
NM_001277115.2(DNAH11):c.5799G>T (p.Lys1933Asn)
|
|
|
|
NM_001277115.2(DNAH11):c.5806G>T (p.Val1936Leu)
|
rs369757206
|
|
|
NM_001277115.2(DNAH11):c.5810A>G (p.Gln1937Arg)
|
|
|
|
NM_001277115.2(DNAH11):c.5814A>G (p.Thr1938=)
|
|
|
|
NM_001277115.2(DNAH11):c.5818G>A (p.Ala1940Thr)
|
|
|
|
NM_001277115.2(DNAH11):c.5819C>G (p.Ala1940Gly)
|
|
|
|
NM_001277115.2(DNAH11):c.5822G>A (p.Trp1941Ter)
|
rs779535145
|
|
|
NM_001277115.2(DNAH11):c.5826C>T (p.Gly1942=)
|
rs2534917294
|
|
|
NM_001277115.2(DNAH11):c.5836G>A (p.Glu1946Lys)
|
rs1165469663
|
|
|
NM_001277115.2(DNAH11):c.5843A>C (p.Asn1948Thr)
|
rs754385182
|
|
|
NM_001277115.2(DNAH11):c.5845C>A (p.Arg1949=)
|
rs372143147
|
|
|
NM_001277115.2(DNAH11):c.5845C>T (p.Arg1949Ter)
|
rs372143147
|
|
|
NM_001277115.2(DNAH11):c.5845del (p.Arg1949fs)
|
rs2128474023
|
|
|
NM_001277115.2(DNAH11):c.5854G>A (p.Val1952Met)
|
rs1783427971
|
|
|
NM_001277115.2(DNAH11):c.5863C>G (p.Leu1955Val)
|
rs549960437
|
|
|
NM_001277115.2(DNAH11):c.5865G>T (p.Leu1955=)
|
rs1490571205
|
|
|
NM_001277115.2(DNAH11):c.5885T>C (p.Val1962Ala)
|
rs1583594660
|
|
|
NM_001277115.2(DNAH11):c.5885_5922del (p.Val1962fs)
|
rs1554269295
|
|
|
NM_001277115.2(DNAH11):c.5886G>C (p.Val1962=)
|
rs2534917526
|
|
|
NM_001277115.2(DNAH11):c.5886G>T (p.Val1962=)
|
rs2534917526
|
|
|
NM_001277115.2(DNAH11):c.589A>T (p.Lys197Ter)
|
rs2534460628
|
|
|
NM_001277115.2(DNAH11):c.58C>T (p.Arg20Cys)
|
rs72655967
|
|
|
NM_001277115.2(DNAH11):c.5907C>T (p.Ile1969=)
|
rs1783431454
|
|
|
NM_001277115.2(DNAH11):c.590AGA[1] (p.Lys198del)
|
rs752229419
|
|
|
NM_001277115.2(DNAH11):c.5916G>A (p.Arg1972=)
|
|
|
|
NM_001277115.2(DNAH11):c.591_592del (p.Lys198fs)
|
rs2534460645
|
|
|
NM_001277115.2(DNAH11):c.5924+10A>G
|
rs1283999186
|
|
|
NM_001277115.2(DNAH11):c.5924+10A>T
|
rs1283999186
|
|
|
NM_001277115.2(DNAH11):c.5924+11T>G
|
rs2534917652
|
|
|
NM_001277115.2(DNAH11):c.5924+16G>A
|
rs2534917675
|
|
|
NM_001277115.2(DNAH11):c.5924+1G>A
|
rs886039340
|
|
|
NM_001277115.2(DNAH11):c.5924+20T>C
|
rs2534917689
|
|
|
NM_001277115.2(DNAH11):c.5924+2T>A
|
rs2128474056
|
|
|
NM_001277115.2(DNAH11):c.5924+5G>A
|
rs778273021
|
|
|
NM_001277115.2(DNAH11):c.5925-10T>C
|
rs1562492213
|
|
|
NM_001277115.2(DNAH11):c.5925-13_5925-12del
|
rs2534929079
|
|
|
NM_001277115.2(DNAH11):c.5925-17C>G
|
|
|
|
NM_001277115.2(DNAH11):c.5925-18A>G
|
|
|
|
NM_001277115.2(DNAH11):c.5925-18del
|
rs2534929052
|
|
|
NM_001277115.2(DNAH11):c.5925-19A>G
|
rs1783581144
|
|
|
NM_001277115.2(DNAH11):c.5925-7A>C
|
|
|
|
NM_001277115.2(DNAH11):c.5934T>C (p.Phe1978=)
|
rs2534929160
|
|
|
NM_001277115.2(DNAH11):c.5940G>A (p.Gly1980=)
|
rs1324170898
|
|
|
NM_001277115.2(DNAH11):c.5944G>A (p.Ala1982Thr)
|
rs2534929205
|
|
|
NM_001277115.2(DNAH11):c.5946T>C (p.Ala1982=)
|
rs2534929210
|
|
|
NM_001277115.2(DNAH11):c.5947A>G (p.Ile1983Val)
|
rs536513593
|
|
|
NM_001277115.2(DNAH11):c.594G>T (p.Lys198Asn)
|
rs762925566
|
|
|
NM_001277115.2(DNAH11):c.5961A>G (p.Pro1987=)
|
rs1562492242
|
|
|
NM_001277115.2(DNAH11):c.5963del (p.Pro1987_Ser1988insTer)
|
rs747957553
|
|
|
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.5990C>A (p.Pro1997Gln)
|
rs752331761
|
|
|
NM_001277115.2(DNAH11):c.5990C>T (p.Pro1997Leu)
|
rs752331761
|
|
|
NM_001277115.2(DNAH11):c.6003T>C (p.Gly2001=)
|
rs781148871
|
|
|
NM_001277115.2(DNAH11):c.6004C>A (p.Arg2002=)
|
rs373844629
|
|
|
NM_001277115.2(DNAH11):c.6007A>G (p.Thr2003Ala)
|
|
|
|
NM_001277115.2(DNAH11):c.6009C>G (p.Thr2003=)
|
rs779108660
|
|
|
NM_001277115.2(DNAH11):c.6009C>T (p.Thr2003=)
|
rs779108660
|
|
|
NM_001277115.2(DNAH11):c.600T>A (p.Tyr200Ter)
|
rs1489686376
|
|
|
NM_001277115.2(DNAH11):c.6027C>T (p.Leu2009=)
|
rs1268936536
|
|
|
NM_001277115.2(DNAH11):c.6031G>A (p.Ala2011Thr)
|
rs1192083655
|
|
|
NM_001277115.2(DNAH11):c.6041+10A>G
|
rs773768547
|
|
|
NM_001277115.2(DNAH11):c.6041+11T>C
|
rs372096044
|
|
|
NM_001277115.2(DNAH11):c.6041+11T>G
|
rs372096044
|
|
|
NM_001277115.2(DNAH11):c.6041+11del
|
rs1783588436
|
|
|
NM_001277115.2(DNAH11):c.6041+15T>C
|
rs1293269022
|
|
|
NM_001277115.2(DNAH11):c.6041+20G>A
|
rs2534929679
|
|
|
NM_001277115.2(DNAH11):c.6041+7G>A
|
rs1426751156
|
|
|
NM_001277115.2(DNAH11):c.6041+8T>C
|
|
|
|
NM_001277115.2(DNAH11):c.6041+8T>G
|
|
|
|
NM_001277115.2(DNAH11):c.6042-14T>C
|
rs2534948461
|
|
|
NM_001277115.2(DNAH11):c.6042-15T>C
|
rs754719730
|
|
|
NM_001277115.2(DNAH11):c.6042-18T>C
|
rs2534948450
|
|
|
NM_001277115.2(DNAH11):c.6042-1G>T
|
rs1364430470
|
|
|
NM_001277115.2(DNAH11):c.6042-4T>A
|
rs1783923712
|
|
|
NM_001277115.2(DNAH11):c.6042-7T>A
|
rs2534948483
|
|
|
NM_001277115.2(DNAH11):c.6042-8C>A
|
rs2534948480
|
|
|
NM_001277115.2(DNAH11):c.6045C>T (p.Pro2015=)
|
|
|
|
NM_001277115.2(DNAH11):c.6060C>A (p.Ala2020=)
|
rs544467652
|
|
|
NM_001277115.2(DNAH11):c.6060C>T (p.Ala2020=)
|
rs544467652
|
|
|
NM_001277115.2(DNAH11):c.6061C>G (p.Pro2021Ala)
|
rs1449033217
|
|
|
NM_001277115.2(DNAH11):c.6062C>A (p.Pro2021His)
|
rs1227418580
|
|
|
NM_001277115.2(DNAH11):c.6073C>G (p.Leu2025Val)
|
rs368561050
|
|
|
NM_001277115.2(DNAH11):c.6073C>T (p.Leu2025=)
|
rs368561050
|
|
|
NM_001277115.2(DNAH11):c.6078C>G (p.Ile2026Met)
|
rs769000578
|
|
|
NM_001277115.2(DNAH11):c.6086T>C (p.Ile2029Thr)
|
rs747820072
|
|
|
NM_001277115.2(DNAH11):c.6088T>C (p.Leu2030=)
|
rs2534948734
|
|
|
NM_001277115.2(DNAH11):c.608G>A (p.Arg203Lys)
|
rs1783328562
|
|
|
NM_001277115.2(DNAH11):c.6091T>C (p.Leu2031=)
|
rs1204780710
|
|
|
NM_001277115.2(DNAH11):c.609G>A (p.Arg203=)
|
rs764725981
|
|
|
NM_001277115.2(DNAH11):c.6119G>A (p.Arg2040His)
|
rs751779702
|
|
|
NM_001277115.2(DNAH11):c.6119G>C (p.Arg2040Pro)
|
rs751779702
|
|
|
NM_001277115.2(DNAH11):c.6120T>C (p.Arg2040=)
|
rs1583604185
|
|
|
NM_001277115.2(DNAH11):c.6121G>T (p.Ala2041Ser)
|
rs1440723245
|
|
|
NM_001277115.2(DNAH11):c.6123A>G (p.Ala2041=)
|
rs2534948903
|
|
|
NM_001277115.2(DNAH11):c.612C>A (p.Gly204=)
|
rs762175035
|
|
|
NM_001277115.2(DNAH11):c.6139A>C (p.Ile2047Leu)
|
rs1299458992
|
|
|
NM_001277115.2(DNAH11):c.6143C>T (p.Thr2048Met)
|
rs184241449
|
|
|
NM_001277115.2(DNAH11):c.614A>C (p.Lys205Thr)
|
rs1191648988
|
|
|
NM_001277115.2(DNAH11):c.6151del (p.Thr2051fs)
|
|
|
|
NM_001277115.2(DNAH11):c.6153G>A (p.Thr2051=)
|
rs369681550
|
|
|
NM_001277115.2(DNAH11):c.6154C>T (p.Leu2052Phe)
|
rs1725389196
|
|
|
NM_001277115.2(DNAH11):c.6161A>C (p.Lys2054Thr)
|
rs1306063707
|
|
|
NM_001277115.2(DNAH11):c.6170T>C (p.Leu2057Pro)
|
rs777354329
|
|
|
NM_001277115.2(DNAH11):c.6176A>G (p.Lys2059Arg)
|
rs1783930160
|
|
|
NM_001277115.2(DNAH11):c.617T>A (p.Met206Lys)
|
rs1375355712
|
|
|
NM_001277115.2(DNAH11):c.617T>C (p.Met206Thr)
|
rs1375355712
|
|
|
NM_001277115.2(DNAH11):c.6180+10C>T
|
rs1354822418
|
|
|
NM_001277115.2(DNAH11):c.6180+12T>C
|
|
|
|
NM_001277115.2(DNAH11):c.6180+14T>C
|
rs188742471
|
|
|
NM_001277115.2(DNAH11):c.6180+18dup
|
rs2534949238
|
|
|
NM_001277115.2(DNAH11):c.6180+19C>G
|
rs759447830
|
|
|
NM_001277115.2(DNAH11):c.6180+20G>T
|
rs192296726
|
|
|
NM_001277115.2(DNAH11):c.6180+8A>G
|
rs2534949171
|
|
|
NM_001277115.2(DNAH11):c.6180G>C (p.Gln2060His)
|
rs1481391495
|
|
|
NM_001277115.2(DNAH11):c.6181-16C>A
|
rs1289842148
|
|
|
NM_001277115.2(DNAH11):c.6181-16C>T
|
rs1289842148
|
|
|
NM_001277115.2(DNAH11):c.6181-1G>A
|
rs1360420006
|
|
|
NM_001277115.2(DNAH11):c.6181-21_6181-17del
|
rs776078588
|
|
|
NM_001277115.2(DNAH11):c.6181-8G>A
|
rs1312394660
|
|
|
NM_001277115.2(DNAH11):c.6183T>A (p.Asp2061Glu)
|
rs1784115914
|
|
|
NM_001277115.2(DNAH11):c.6195G>T (p.Trp2065Cys)
|
rs780650546
|
|
|
NM_001277115.2(DNAH11):c.61C>T (p.Leu21=)
|
|
|
|
NM_001277115.2(DNAH11):c.6204T>C (p.Arg2068=)
|
rs749115429
|
|
|
NM_001277115.2(DNAH11):c.6210T>G (p.Ile2070Met)
|
rs773630976
|
|
|
NM_001277115.2(DNAH11):c.6217G>A (p.Val2073Ile)
|
rs760953364
|
|
|
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.6231T>C (p.Ala2077=)
|
rs2534962153
|
|
|
NM_001277115.2(DNAH11):c.6240G>C (p.Leu2080=)
|
rs2534962207
|
|
|
NM_001277115.2(DNAH11):c.6245G>A (p.Arg2082Gln)
|
rs563280837
|
|
|
NM_001277115.2(DNAH11):c.6245G>C (p.Arg2082Pro)
|
rs563280837
|
|
|
NM_001277115.2(DNAH11):c.6250G>C (p.Asp2084His)
|
rs756934190
|
|
|
NM_001277115.2(DNAH11):c.6261A>G (p.Arg2087=)
|
rs1046205210
|
|
|
NM_001277115.2(DNAH11):c.6265G>T (p.Glu2089Ter)
|
rs1275718084
|
|
|
NM_001277115.2(DNAH11):c.6273+12C>A
|
rs373278618
|
|
|
NM_001277115.2(DNAH11):c.6273+12C>G
|
rs373278618
|
|
|
NM_001277115.2(DNAH11):c.6273+18T>A
|
rs1179093751
|
|
|
NM_001277115.2(DNAH11):c.6273+5T>G
|
|
|
|
NM_001277115.2(DNAH11):c.6273+8A>G
|
rs2534962409
|
|
|
NM_001277115.2(DNAH11):c.6273+9A>C
|
rs192777767
|
|
|
NM_001277115.2(DNAH11):c.6273+9A>G
|
rs192777767
|
|
|
NM_001277115.2(DNAH11):c.6274-11T>G
|
rs2534966677
|
|
|
NM_001277115.2(DNAH11):c.6274-1G>A
|
rs1489010290
|
|
|
NM_001277115.2(DNAH11):c.6274-5del
|
rs762673009
|
|
|
NM_001277115.2(DNAH11):c.6274-5dup
|
rs762673009
|
|
|
NM_001277115.2(DNAH11):c.6279C>A (p.Leu2093=)
|
rs1192869606
|
|
|
NM_001277115.2(DNAH11):c.6279C>T (p.Leu2093=)
|
rs1192869606
|
|
|
NM_001277115.2(DNAH11):c.6283A>G (p.Arg2095Gly)
|
rs1331599485
|
|
|
NM_001277115.2(DNAH11):c.6287C>T (p.Ala2096Val)
|
|
|
|
NM_001277115.2(DNAH11):c.6288A>C (p.Ala2096=)
|
rs905167931
|
|
|
NM_001277115.2(DNAH11):c.6296A>G (p.Asp2099Gly)
|
|
|
|
NM_001277115.2(DNAH11):c.6298_6299dup (p.Asn2101fs)
|
rs2128479064
|
|
|
NM_001277115.2(DNAH11):c.6303T>C (p.Asn2101=)
|
rs367634158
|
|
|
NM_001277115.2(DNAH11):c.6307C>T (p.Pro2103Ser)
|
|
|
|
NM_001277115.2(DNAH11):c.631C>G (p.Leu211Val)
|
rs1384315256
|
|
|
NM_001277115.2(DNAH11):c.6321T>C (p.Thr2107=)
|
rs2534966918
|
|
|
NM_001277115.2(DNAH11):c.6334G>A (p.Val2112Met)
|
rs753307020
|
|
|
NM_001277115.2(DNAH11):c.6334G>T (p.Val2112Leu)
|
rs753307020
|
|
|
NM_001277115.2(DNAH11):c.6339T>A (p.Phe2113Leu)
|
rs1583610498
|
|
|
NM_001277115.2(DNAH11):c.6342G>A (p.Leu2114=)
|
|
|
|
NM_001277115.2(DNAH11):c.6343G>A (p.Gly2115Ser)
|
rs778995624
|
|
|
NM_001277115.2(DNAH11):c.6345C>A (p.Gly2115=)
|
rs2534966981
|
|
|
NM_001277115.2(DNAH11):c.6345C>G (p.Gly2115=)
|
rs2534966981
|
|
|
NM_001277115.2(DNAH11):c.634C>T (p.Leu212=)
|
rs2534461056
|
|
|
NM_001277115.2(DNAH11):c.6353G>A (p.Gly2118Asp)
|
rs1060503061
|
|
|
NM_001277115.2(DNAH11):c.6358C>T (p.Leu2120=)
|
rs1784189493
|
|
|
NM_001277115.2(DNAH11):c.6360G>A (p.Leu2120=)
|
rs1784189630
|
|
|
NM_001277115.2(DNAH11):c.6363T>C (p.Phe2121=)
|
rs1465584153
|
|
|
NM_001277115.2(DNAH11):c.6369C>A (p.Ala2123=)
|
rs749375150
|
|
|
NM_001277115.2(DNAH11):c.6379C>T (p.Pro2127Ser)
|
rs1386882237
|
|
|
NM_001277115.2(DNAH11):c.6380C>T (p.Pro2127Leu)
|
rs368090876
|
|
|
NM_001277115.2(DNAH11):c.6382C>G (p.Arg2128Gly)
|
|
|
|
NM_001277115.2(DNAH11):c.6382C>T (p.Arg2128Trp)
|
|
|
|
NM_001277115.2(DNAH11):c.6388A>C (p.Arg2130=)
|
rs2534967227
|
|
|
NM_001277115.2(DNAH11):c.638C>A (p.Pro213Gln)
|
|
|
|
NM_001277115.2(DNAH11):c.6394C>G (p.Leu2132Val)
|
rs764826293
|
|
|
NM_001277115.2(DNAH11):c.639A>G (p.Pro213=)
|
rs549859107
|
|
|
NM_001277115.2(DNAH11):c.63A>C (p.Leu21=)
|
rs2534409057
|
|
|
NM_001277115.2(DNAH11):c.6409A>G (p.Met2137Val)
|
rs1562499077
|
|
|
NM_001277115.2(DNAH11):c.6416G>C (p.Arg2139Thr)
|
|
|
|
NM_001277115.2(DNAH11):c.6416G>T (p.Arg2139Met)
|
|
|
|
NM_001277115.2(DNAH11):c.6425C>T (p.Thr2142Ile)
|
rs780210028
|
|
|
NM_001277115.2(DNAH11):c.6430G>C (p.Glu2144Gln)
|
rs1472858482
|
|
|
NM_001277115.2(DNAH11):c.6431A>T (p.Glu2144Val)
|
rs1784194431
|
|
|
NM_001277115.2(DNAH11):c.6437G>A (p.Arg2146His)
|
rs727505321
|
|
|
NM_001277115.2(DNAH11):c.6463C>T (p.Leu2155Phe)
|
rs1784195701
|
|
|
NM_001277115.2(DNAH11):c.6465C>A (p.Leu2155=)
|
rs2534967674
|
|
|
NM_001277115.2(DNAH11):c.6467A>G (p.Lys2156Arg)
|
rs1784195775
|
|
|
NM_001277115.2(DNAH11):c.6468+6dup
|
rs1554271439
|
|
|
NM_001277115.2(DNAH11):c.6468+8G>A
|
rs772306989
|
|
|
NM_001277115.2(DNAH11):c.6468+8_6468+10del
|
rs776260559
|
|
|
NM_001277115.2(DNAH11):c.6469-16G>A
|
rs1784227127
|
|
|
NM_001277115.2(DNAH11):c.6469-18C>G
|
|
|
|
NM_001277115.2(DNAH11):c.6486A>G (p.Glu2162=)
|
rs2128479534
|
|
|
NM_001277115.2(DNAH11):c.6489G>A (p.Leu2163=)
|
rs774206120
|
|
|
NM_001277115.2(DNAH11):c.6489G>C (p.Leu2163=)
|
|
|
|
NM_001277115.2(DNAH11):c.649G>A (p.Val217Ile)
|
rs1783331179
|
|
|
NM_001277115.2(DNAH11):c.6504C>T (p.His2168=)
|
rs752956143
|
|
|
NM_001277115.2(DNAH11):c.6505T>A (p.Ser2169Thr)
|
|
|
|
NM_001277115.2(DNAH11):c.6518T>C (p.Val2173Ala)
|
rs2534970653
|
|
|
NM_001277115.2(DNAH11):c.6530G>A (p.Gly2177Asp)
|
rs1190251540
|
|
|
NM_001277115.2(DNAH11):c.6534A>C (p.Thr2178=)
|
rs1248330170
|
|
|
NM_001277115.2(DNAH11):c.6534A>G (p.Thr2178=)
|
rs1248330170
|
|
|
NM_001277115.2(DNAH11):c.6541A>G (p.Ser2181Gly)
|
rs1415270608
|
|
|
NM_001277115.2(DNAH11):c.6546+13G>C
|
rs773063717
|
|
|
NM_001277115.2(DNAH11):c.6546+13G>T
|
rs773063717
|
|
|
NM_001277115.2(DNAH11):c.6546+18A>C
|
rs752908677
|
|
|
NM_001277115.2(DNAH11):c.6546+20A>G
|
rs371054541
|
|
|
NM_001277115.2(DNAH11):c.6546+4T>C
|
|
|
|
NM_001277115.2(DNAH11):c.6546+5A>C
|
|
|
|
NM_001277115.2(DNAH11):c.6546+5A>G
|
rs761184068
|
|
|
NM_001277115.2(DNAH11):c.6547-12C>A
|
rs2534976586
|
|
|
NM_001277115.2(DNAH11):c.6547-15C>A
|
rs1183445560
|
|
|
NM_001277115.2(DNAH11):c.6547-15C>T
|
|
|
|
NM_001277115.2(DNAH11):c.6547-16T>C
|
rs1583613782
|
|
|
NM_001277115.2(DNAH11):c.6547-17T>G
|
rs767684965
|
|
|
NM_001277115.2(DNAH11):c.6547-6C>G
|
rs866020416
|
|
|
NM_001277115.2(DNAH11):c.6547-6C>T
|
rs866020416
|
|
|
NM_001277115.2(DNAH11):c.6547-8C>G
|
rs2534976626
|
|
|
NM_001277115.2(DNAH11):c.6547-8C>T
|
rs2534976626
|
|
|
NM_001277115.2(DNAH11):c.6574_6576dup (p.Val2192dup)
|
rs2128480173
|
|
|
NM_001277115.2(DNAH11):c.6581T>G (p.Met2194Arg)
|
rs1205234077
|
|
|
NM_001277115.2(DNAH11):c.6593C>G (p.Pro2198Arg)
|
rs745741888
|
|
|
NM_001277115.2(DNAH11):c.6593C>T (p.Pro2198Leu)
|
rs745741888
|
|
|
NM_001277115.2(DNAH11):c.6594G>A (p.Pro2198=)
|
rs200894470
|
|
|
NM_001277115.2(DNAH11):c.6594G>C (p.Pro2198=)
|
rs200894470
|
|
|
NM_001277115.2(DNAH11):c.6594G>T (p.Pro2198=)
|
rs200894470
|
|
|
NM_001277115.2(DNAH11):c.65C>T (p.Thr22Ile)
|
rs1562648351
|
|
|
NM_001277115.2(DNAH11):c.6603T>C (p.Asn2201=)
|
rs760775359
|
|
|
NM_001277115.2(DNAH11):c.6605A>T (p.Asp2202Val)
|
rs2534976872
|
|
|
NM_001277115.2(DNAH11):c.6620C>T (p.Ala2207Val)
|
rs758080566
|
|
|
NM_001277115.2(DNAH11):c.6626C>A (p.Thr2209Lys)
|
rs746537142
|
|
|
NM_001277115.2(DNAH11):c.6630A>G (p.Thr2210=)
|
rs1304334541
|
|
|
NM_001277115.2(DNAH11):c.6642T>C (p.Phe2214=)
|
rs374909065
|
|
|
NM_001277115.2(DNAH11):c.6652C>A (p.His2218Asn)
|
rs757932794
|
|
|
NM_001277115.2(DNAH11):c.6657T>G (p.His2219Gln)
|
rs780024971
|
|
|
NM_001277115.2(DNAH11):c.6664C>T (p.Arg2222Ter)
|
rs773498002
|
|
|
NM_001277115.2(DNAH11):c.6664del (p.Arg2222fs)
|
rs2534977169
|
|
|
NM_001277115.2(DNAH11):c.6669A>G (p.Glu2223=)
|
rs759931782
|
|
|
NM_001277115.2(DNAH11):c.6676G>C (p.Asp2226His)
|
rs2534977226
|
|
|
NM_001277115.2(DNAH11):c.6680G>A (p.Gly2227Asp)
|
|
|
|
NM_001277115.2(DNAH11):c.6681C>T (p.Gly2227=)
|
rs753085062
|
|
|
NM_001277115.2(DNAH11):c.6683+17A>C
|
rs377421832
|
|
|
NM_001277115.2(DNAH11):c.6683+2T>A
|
rs2534977300
|
|
|
NM_001277115.2(DNAH11):c.6683+8T>A
|
rs1784328812
|
|
|
NM_001277115.2(DNAH11):c.6684-13C>T
|
rs2534985966
|
|
|
NM_001277115.2(DNAH11):c.6684-19C>G
|
rs2534985921
|
|
|
NM_001277115.2(DNAH11):c.6684-9A>G
|
rs2534985976
|
|
|
NM_001277115.2(DNAH11):c.6687T>G (p.Ile2229Met)
|
rs1254552538
|
|
|
NM_001277115.2(DNAH11):c.6693C>G (p.Tyr2231Ter)
|
rs758391967
|
|
|
NM_001277115.2(DNAH11):c.6698A>G (p.Tyr2233Cys)
|
rs182160568
|
|
|
NM_001277115.2(DNAH11):c.6702T>C (p.Phe2234=)
|
rs780203008
|
|
|
NM_001277115.2(DNAH11):c.6703A>G (p.Ile2235Val)
|
|
|
|
NM_001277115.2(DNAH11):c.6706G>C (p.Gly2236Arg)
|
rs1583616682
|
|
|
NM_001277115.2(DNAH11):c.6709C>G (p.Leu2237Val)
|
rs370225380
|
|
|
NM_001277115.2(DNAH11):c.6709C>T (p.Leu2237Phe)
|
rs370225380
|
|
|
NM_001277115.2(DNAH11):c.6712T>G (p.Phe2238Val)
|
|
|
|
NM_001277115.2(DNAH11):c.6719C>A (p.Ser2240Tyr)
|
rs1395065204
|
|
|
NM_001277115.2(DNAH11):c.6733C>T (p.Gln2245Ter)
|
rs767078773
|
|
|
NM_001277115.2(DNAH11):c.6736G>C (p.Ala2246Pro)
|
rs1784428696
|
|
|
NM_001277115.2(DNAH11):c.6742C>G (p.Leu2248Val)
|
rs1250834420
|
|
|
NM_001277115.2(DNAH11):c.6747G>C (p.Lys2249Asn)
|
rs760315430
|
|
|
NM_001277115.2(DNAH11):c.6768A>T (p.Ile2256=)
|
rs2534986428
|
|
|
NM_001277115.2(DNAH11):c.6771C>G (p.Val2257=)
|
rs751317052
|
|
|
NM_001277115.2(DNAH11):c.6771C>T (p.Val2257=)
|
|
|
|
NM_001277115.2(DNAH11):c.6774G>A (p.Leu2258=)
|
rs2534986455
|
|
|
NM_001277115.2(DNAH11):c.6780C>G (p.Gly2260=)
|
rs377115580
|
|
|
NM_001277115.2(DNAH11):c.6781G>A (p.Asp2261Asn)
|
rs756227184
|
|
|
NM_001277115.2(DNAH11):c.6781G>C (p.Asp2261His)
|
rs756227184
|
|
|
NM_001277115.2(DNAH11):c.6793A>T (p.Met2265Leu)
|
rs368383022
|
|
|
NM_001277115.2(DNAH11):c.6795G>A (p.Met2265Ile)
|
rs749316177
|
|
|
NM_001277115.2(DNAH11):c.6801T>A (p.Ile2267=)
|
rs200168142
|
|
|
NM_001277115.2(DNAH11):c.6804A>G (p.Glu2268=)
|
rs2534986674
|
|
|
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.6813T>C (p.Asn2271=)
|
rs2534986706
|
|
|
NM_001277115.2(DNAH11):c.6832A>C (p.Lys2278Gln)
|
|
|
|
NM_001277115.2(DNAH11):c.6834+10A>C
|
rs2534986860
|
|
|
NM_001277115.2(DNAH11):c.6834+11C>T
|
rs766091915
|
|
|
NM_001277115.2(DNAH11):c.6834+12C>G
|
rs1354093194
|
|
|
NM_001277115.2(DNAH11):c.6834+16G>A
|
|
|
|
NM_001277115.2(DNAH11):c.6834+16G>C
|
rs1189962651
|
|
|
NM_001277115.2(DNAH11):c.6834+16G>T
|
rs1189962651
|
|
|
NM_001277115.2(DNAH11):c.6834+19C>T
|
rs1390209795
|
|
|
NM_001277115.2(DNAH11):c.6834+1G>T
|
rs1263473412
|
|
|
NM_001277115.2(DNAH11):c.6834+20T>C
|
rs776305821
|
|
|
NM_001277115.2(DNAH11):c.6834+3G>A
|
rs2534986827
|
|
|
NM_001277115.2(DNAH11):c.6834+7A>G
|
rs2534986849
|
|
|
NM_001277115.2(DNAH11):c.6835-12T>G
|
rs1784469503
|
|
|
NM_001277115.2(DNAH11):c.6835-13_6835-12insACCTGGA
|
rs1784469417
|
|
|
NM_001277115.2(DNAH11):c.6835-15del
|
rs1784469338
|
|
|
NM_001277115.2(DNAH11):c.6835-17T>C
|
rs1445969730
|
|
|
NM_001277115.2(DNAH11):c.6835-1G>A
|
rs2534990487
|
|
|
NM_001277115.2(DNAH11):c.6835-5T>A
|
rs1233703526
|
|
|
NM_001277115.2(DNAH11):c.6843C>T (p.Thr2281=)
|
rs1784470550
|
|
|
NM_001277115.2(DNAH11):c.6846C>A (p.Leu2282=)
|
rs182414611
|
|
|
NM_001277115.2(DNAH11):c.6846C>T (p.Leu2282=)
|
rs182414611
|
|
|
NM_001277115.2(DNAH11):c.6848C>T (p.Ala2283Val)
|
|
|
|
NM_001277115.2(DNAH11):c.6853A>G (p.Asn2285Asp)
|
rs2534990562
|
|
|
NM_001277115.2(DNAH11):c.685G>T (p.Glu229Ter)
|
rs1783333404
|
|
|
NM_001277115.2(DNAH11):c.6860G>A (p.Arg2287His)
|
rs781049702
|
|
|
NM_001277115.2(DNAH11):c.6870C>T (p.Leu2290=)
|
rs2534990641
|
|
|
NM_001277115.2(DNAH11):c.6872C>T (p.Thr2291Ile)
|
rs769290954
|
|
|
NM_001277115.2(DNAH11):c.6880A>G (p.Met2294Val)
|
rs775087502
|
|
|
NM_001277115.2(DNAH11):c.6881T>C (p.Met2294Thr)
|
rs1554272411
|
|
|
NM_001277115.2(DNAH11):c.6889C>T (p.Leu2297=)
|
rs886038471
|
|
|
NM_001277115.2(DNAH11):c.6897G>C (p.Glu2299Asp)
|
rs886062180
|
|
|
NM_001277115.2(DNAH11):c.6898A>G (p.Ile2300Val)
|
rs767273694
|
|
|
NM_001277115.2(DNAH11):c.6902A>T (p.His2301Leu)
|
|
|
|
NM_001277115.2(DNAH11):c.6903T>C (p.His2301=)
|
rs2534990782
|
|
|
NM_001277115.2(DNAH11):c.6906C>T (p.His2302=)
|
rs2534990797
|
|
|
NM_001277115.2(DNAH11):c.690C>T (p.Asn230=)
|
rs1435673335
|
|
|
NM_001277115.2(DNAH11):c.6911G>A (p.Arg2304Lys)
|
rs1426116972
|
|
|
NM_001277115.2(DNAH11):c.6912G>A (p.Arg2304=)
|
rs2534990819
|
|
|
NM_001277115.2(DNAH11):c.692+13A>G
|
rs2534461577
|
|
|
NM_001277115.2(DNAH11):c.692+14C>G
|
rs773626660
|
|
|
NM_001277115.2(DNAH11):c.692+15A>C
|
rs2128430914
|
|
|
NM_001277115.2(DNAH11):c.692+15A>G
|
rs2128430914
|
|
|
NM_001277115.2(DNAH11):c.692+16A>G
|
rs1203566996
|
|
|
NM_001277115.2(DNAH11):c.692+16A>T
|
rs1203566996
|
|
|
NM_001277115.2(DNAH11):c.692+2T>C
|
rs2534461499
|
|
|
NM_001277115.2(DNAH11):c.692+8A>T
|
rs1315900727
|
|
|
NM_001277115.2(DNAH11):c.692+9C>G
|
rs2534461544
|
|
|
NM_001277115.2(DNAH11):c.693-14C>G
|
rs574585676
|
|
|
NM_001277115.2(DNAH11):c.693-14C>T
|
rs574585676
|
|
|
NM_001277115.2(DNAH11):c.693-15T>C
|
rs2534463710
|
|
|
NM_001277115.2(DNAH11):c.693-15_693-11del
|
rs1480236311
|
|
|
NM_001277115.2(DNAH11):c.693-16A>G
|
rs2534463703
|
|
|
NM_001277115.2(DNAH11):c.693-17T>C
|
rs1171665236
|
|
|
NM_001277115.2(DNAH11):c.693-2A>G
|
rs1562660214
|
|
|
NM_001277115.2(DNAH11):c.693-5T>C
|
rs1783368927
|
|
|
NM_001277115.2(DNAH11):c.6935C>A (p.Ser2312Tyr)
|
rs1784474955
|
|
|
NM_001277115.2(DNAH11):c.6939A>G (p.Arg2313=)
|
rs2128481255
|
|
|
NM_001277115.2(DNAH11):c.6941C>T (p.Ala2314Val)
|
rs372541483
|
|
|
NM_001277115.2(DNAH11):c.6946A>G (p.Ile2316Val)
|
rs1289840978
|
|
|
NM_001277115.2(DNAH11):c.6951G>C (p.Leu2317=)
|
rs2534990971
|
|
|
NM_001277115.2(DNAH11):c.6955G>A (p.Val2319Met)
|
|
|
|
NM_001277115.2(DNAH11):c.6957G>C (p.Val2319=)
|
rs2534991007
|
|
|
NM_001277115.2(DNAH11):c.6960C>T (p.Asn2320=)
|
rs1562503295
|
|
|
NM_001277115.2(DNAH11):c.6963A>G (p.Pro2321=)
|
rs1434891551
|
|
|
NM_001277115.2(DNAH11):c.6966A>G (p.Gln2322=)
|
rs1583617850
|
|
|
NM_001277115.2(DNAH11):c.6975C>A (p.Gly2325=)
|
rs539750151
|
|
|
NM_001277115.2(DNAH11):c.6977G>A (p.Trp2326Ter)
|
rs2534991105
|
|
|
NM_001277115.2(DNAH11):c.6983+13_6983+16del
|
rs1186779713
|
|
|
NM_001277115.2(DNAH11):c.6983+16T>G
|
rs773016942
|
|
|
NM_001277115.2(DNAH11):c.6983+17G>C
|
rs2534991224
|
|
|
NM_001277115.2(DNAH11):c.6983+5G>A
|
rs1422019653
|
|
|
NM_001277115.2(DNAH11):c.6983+8T>C
|
rs1784476953
|
|
|
NM_001277115.2(DNAH11):c.6984-3C>T
|
rs2128482941
|
|
|
NM_001277115.2(DNAH11):c.6984-8C>G
|
rs774585659
|
|
|
NM_001277115.2(DNAH11):c.6984G>A (p.Pro2328=)
|
rs761918179
|
|
|
NM_001277115.2(DNAH11):c.6993C>T (p.Ala2331=)
|
rs1199968157
|
|
|
NM_001277115.2(DNAH11):c.7005C>A (p.Asp2335Glu)
|
rs1784721850
|
|
|
NM_001277115.2(DNAH11):c.7014G>A (p.Arg2338=)
|
rs1162889810
|
|
|
NM_001277115.2(DNAH11):c.7015C>T (p.His2339Tyr)
|
rs1453952349
|
|
|
NM_001277115.2(DNAH11):c.7020A>G (p.Gln2340=)
|
rs2535008803
|
|
|
NM_001277115.2(DNAH11):c.7027A>T (p.Lys2343Ter)
|
rs2535008828
|
|
|
NM_001277115.2(DNAH11):c.7036T>A (p.Leu2346Met)
|
rs374842931
|
|
|
NM_001277115.2(DNAH11):c.7036T>C (p.Leu2346=)
|
rs374842931
|
|
|
NM_001277115.2(DNAH11):c.7042A>G (p.Ile2348Val)
|
|
|
|
NM_001277115.2(DNAH11):c.7048T>C (p.Phe2350Leu)
|
rs780882494
|
|
|
NM_001277115.2(DNAH11):c.7053T>C (p.Asp2351=)
|
rs957145522
|
|
|
NM_001277115.2(DNAH11):c.7057T>C (p.Tyr2353His)
|
rs2535009022
|
|
|
NM_001277115.2(DNAH11):c.7062C>T (p.Val2354=)
|
rs1242211350
|
|
|
NM_001277115.2(DNAH11):c.7063C>A (p.Pro2355Thr)
|
|
|
|
NM_001277115.2(DNAH11):c.7068A>G (p.Ala2356=)
|
rs773805632
|
|
|
NM_001277115.2(DNAH11):c.7073del (p.Leu2358fs)
|
|
|
|
NM_001277115.2(DNAH11):c.7083G>A (p.Leu2361=)
|
|
|
|
NM_001277115.2(DNAH11):c.7092C>G (p.Ser2364Arg)
|
|
|
|
NM_001277115.2(DNAH11):c.7092C>T (p.Ser2364=)
|
|
|
|
NM_001277115.2(DNAH11):c.7101_7102insTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAACC (p.Ile2368delinsCysGlyGlyValGlyGlyGlyGlyArgAspSerIleGlyArgTyrThrTer)
|
|
|
|
NM_001277115.2(DNAH11):c.7102A>G (p.Ile2368Val)
|
|
|
|
NM_001277115.2(DNAH11):c.7104C>T (p.Ile2368=)
|
rs764940440
|
|
|
NM_001277115.2(DNAH11):c.7105A>G (p.Thr2369Ala)
|
rs2128482984
|
|
|
NM_001277115.2(DNAH11):c.7112T>C (p.Ile2371Thr)
|
rs757953855
|
|
|
NM_001277115.2(DNAH11):c.7122T>C (p.Ser2374=)
|
rs2535009323
|
|
|
NM_001277115.2(DNAH11):c.7124G>A (p.Ser2375Asn)
|
rs1784726076
|
|
|
NM_001277115.2(DNAH11):c.7126C>G (p.Leu2376Val)
|
rs549049467
|
|
|
NM_001277115.2(DNAH11):c.712A>G (p.Ile238Val)
|
rs764129443
|
|
|
NM_001277115.2(DNAH11):c.7134+12G>A
|
rs769698842
|
|
|
NM_001277115.2(DNAH11):c.7134+20A>G
|
rs2535009493
|
|
|
NM_001277115.2(DNAH11):c.7135-11T>G
|
rs767412260
|
|
|
NM_001277115.2(DNAH11):c.7135-12C>A
|
|
|
|
NM_001277115.2(DNAH11):c.7135-13del
|
rs2535017988
|
|
|
NM_001277115.2(DNAH11):c.7135-14T>G
|
rs1784841830
|
|
|
NM_001277115.2(DNAH11):c.7135-17T>G
|
rs2535017971
|
|
|
NM_001277115.2(DNAH11):c.7135-6C>A
|
rs2535018028
|
|
|
NM_001277115.2(DNAH11):c.7135-7T>C
|
rs1247012645
|
|
|
NM_001277115.2(DNAH11):c.7136C>T (p.Thr2379Ile)
|
rs1187736300
|
|
|
NM_001277115.2(DNAH11):c.7137T>G (p.Thr2379=)
|
rs1784842448
|
|
|
NM_001277115.2(DNAH11):c.7140_7141del (p.Val2382fs)
|
rs878854445
|
|
|
NM_001277115.2(DNAH11):c.7146T>C (p.Val2382=)
|
rs2535018110
|
|
|
NM_001277115.2(DNAH11):c.7149T>G (p.Leu2383=)
|
rs1158792267
|
|
|
NM_001277115.2(DNAH11):c.715A>G (p.Ile239Val)
|
rs981629773
|
|
|
NM_001277115.2(DNAH11):c.7164G>A (p.Leu2388=)
|
rs1362608700
|
|
|
NM_001277115.2(DNAH11):c.7169C>T (p.Pro2390Leu)
|
rs1395315449
|
|
|
NM_001277115.2(DNAH11):c.7179A>C (p.Val2393=)
|
rs2535018256
|
|
|
NM_001277115.2(DNAH11):c.7191C>G (p.Ser2397Arg)
|
|
|
|
NM_001277115.2(DNAH11):c.7191C>T (p.Ser2397=)
|
rs1371364381
|
|
|
NM_001277115.2(DNAH11):c.7194A>T (p.Pro2398=)
|
|
|
|
NM_001277115.2(DNAH11):c.7200A>G (p.Glu2400=)
|
rs777987464
|
|
|
NM_001277115.2(DNAH11):c.7205A>T (p.Tyr2402Phe)
|
rs747126718
|
|
|
NM_001277115.2(DNAH11):c.7207G>A (p.Glu2403Lys)
|
|
|
|
NM_001277115.2(DNAH11):c.7212C>T (p.Val2404=)
|
rs777174573
|
|
|
NM_001277115.2(DNAH11):c.7221A>T (p.Val2407=)
|
rs2535018400
|
|
|
NM_001277115.2(DNAH11):c.722A>G (p.His241Arg)
|
rs1783371740
|
|
|
NM_001277115.2(DNAH11):c.7232T>G (p.Ile2411Ser)
|
rs774038334
|
|
|
NM_001277115.2(DNAH11):c.7239T>A (p.Ala2413=)
|
|
|
|
NM_001277115.2(DNAH11):c.7240T>C (p.Phe2414Leu)
|
rs1415224732
|
|
|
NM_001277115.2(DNAH11):c.7240T>G (p.Phe2414Val)
|
rs1415224732
|
|
|
NM_001277115.2(DNAH11):c.7245A>G (p.Gly2415=)
|
rs1287436556
|
|
|
NM_001277115.2(DNAH11):c.7254G>A (p.Leu2418=)
|
rs1284362579
|
|
|
NM_001277115.2(DNAH11):c.7255C>G (p.Leu2419Val)
|
rs2535018549
|
|
|
NM_001277115.2(DNAH11):c.7257A>G (p.Leu2419=)
|
rs1311166038
|
|
|
NM_001277115.2(DNAH11):c.7258C>A (p.Gln2420Lys)
|
rs1207409225
|
|
|
NM_001277115.2(DNAH11):c.7264C>T (p.Gln2422Ter)
|
rs2535018649
|
|
|
NM_001277115.2(DNAH11):c.7266+14T>C
|
rs890846153
|
|
|
NM_001277115.2(DNAH11):c.7266+18_7266+19del
|
rs774822687
|
|
|
NM_001277115.2(DNAH11):c.7266+19T>A
|
rs1178051622
|
|
|
NM_001277115.2(DNAH11):c.7266+1G>T
|
rs72657354
|
|
|
NM_001277115.2(DNAH11):c.7267-12dup
|
rs2535041750
|
|
|
NM_001277115.2(DNAH11):c.7267-16del
|
rs1785073190
|
|
|
NM_001277115.2(DNAH11):c.7267-20A>G
|
rs1785072892
|
|
|
NM_001277115.2(DNAH11):c.7267-5C>T
|
rs370674737
|
|
|
NM_001277115.2(DNAH11):c.7269T>A (p.Ile2423=)
|
rs2535041838
|
|
|
NM_001277115.2(DNAH11):c.7275T>C (p.Asp2425=)
|
rs1785073914
|
|
|
NM_001277115.2(DNAH11):c.7279C>A (p.Gln2427Lys)
|
|
|
|
NM_001277115.2(DNAH11):c.7279C>T (p.Gln2427Ter)
|
rs202236144
|
|
|
NM_001277115.2(DNAH11):c.727A>T (p.Ile243Phe)
|
rs189000268
|
|
|
NM_001277115.2(DNAH11):c.7283C>G (p.Ala2428Gly)
|
rs750508600
|
|
|
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.7290C>G (p.Phe2430Leu)
|
rs12536928
|
|
|
NM_001277115.2(DNAH11):c.7299G>A (p.Trp2433Ter)
|
rs748399924
|
|
|
NM_001277115.2(DNAH11):c.7308A>G (p.Lys2436=)
|
rs1459663021
|
|
|
NM_001277115.2(DNAH11):c.7319C>T (p.Ala2440Val)
|
rs1028235968
|
|
|
NM_001277115.2(DNAH11):c.7320A>G (p.Ala2440=)
|
rs2535042224
|
|
|
NM_001277115.2(DNAH11):c.7324A>C (p.Lys2442Gln)
|
rs1785077339
|
|
|
NM_001277115.2(DNAH11):c.732A>G (p.Glu244=)
|
rs1448372395
|
|
|
NM_001277115.2(DNAH11):c.7333T>C (p.Ser2445Pro)
|
rs2535042293
|
|
|
NM_001277115.2(DNAH11):c.7335G>T (p.Ser2445=)
|
rs11768670
|
|
|
NM_001277115.2(DNAH11):c.7343C>A (p.Thr2448Lys)
|
rs1193879875
|
|
|
NM_001277115.2(DNAH11):c.7345A>C (p.Ile2449Leu)
|
rs1236826410
|
|
|
NM_001277115.2(DNAH11):c.7346T>G (p.Ile2449Ser)
|
rs1240719613
|
|
|
NM_001277115.2(DNAH11):c.734C>G (p.Ser245Cys)
|
|
|
|
NM_001277115.2(DNAH11):c.7351G>A (p.Asp2451Asn)
|
rs998505687
|
|
|
NM_001277115.2(DNAH11):c.7351G>C (p.Asp2451His)
|
|
|
|
NM_001277115.2(DNAH11):c.7374del (p.Lys2459fs)
|
rs2535042738
|
|
|
NM_001277115.2(DNAH11):c.7386G>A (p.Leu2462=)
|
|
|
|
NM_001277115.2(DNAH11):c.739G>T (p.Val247Phe)
|
|
|
|
NM_001277115.2(DNAH11):c.73G>A (p.Ala25Thr)
|
rs201804029
|
|
|
NM_001277115.2(DNAH11):c.73G>C (p.Ala25Pro)
|
rs201804029
|
|
|
NM_001277115.2(DNAH11):c.7406C>G (p.Ala2469Gly)
|
|
|
|
NM_001277115.2(DNAH11):c.7406C>T (p.Ala2469Val)
|
|
|
|
NM_001277115.2(DNAH11):c.7408C>G (p.Gln2470Glu)
|
rs779156590
|
|
|
NM_001277115.2(DNAH11):c.7410G>A (p.Gln2470=)
|
rs2128485664
|
|
|
NM_001277115.2(DNAH11):c.7410G>C (p.Gln2470His)
|
rs2128485664
|
|
|
NM_001277115.2(DNAH11):c.7420G>C (p.Asp2474His)
|
rs2535043029
|
|
|
NM_001277115.2(DNAH11):c.7422T>A (p.Asp2474Glu)
|
rs1785085519
|
|
|
NM_001277115.2(DNAH11):c.7428T>A (p.Asp2476Glu)
|
rs1179297116
|
|
|
NM_001277115.2(DNAH11):c.7433C>T (p.Pro2478Leu)
|
rs1785086357
|
|
|
NM_001277115.2(DNAH11):c.7435C>T (p.Leu2479=)
|
rs2535043118
|
|
|
NM_001277115.2(DNAH11):c.7437G>T (p.Leu2479=)
|
rs2535043129
|
|
|
NM_001277115.2(DNAH11):c.7438C>T (p.Gln2480Ter)
|
rs2535043136
|
|
|
NM_001277115.2(DNAH11):c.743T>C (p.Ile248Thr)
|
|
|
|
NM_001277115.2(DNAH11):c.7440+14A>C
|
rs2535043213
|
|
|
NM_001277115.2(DNAH11):c.7440+20C>T
|
|
|
|
NM_001277115.2(DNAH11):c.7440+2T>C
|
rs2535043152
|
|
|
NM_001277115.2(DNAH11):c.7440+7G>T
|
rs573260062
|
|
|
NM_001277115.2(DNAH11):c.7440+8dup
|
rs2535043191
|
|
|
NM_001277115.2(DNAH11):c.7441-19A>T
|
rs10247099
|
|
|
NM_001277115.2(DNAH11):c.7441-20C>T
|
rs1338487702
|
|
|
NM_001277115.2(DNAH11):c.7441-6T>A
|
rs2535083146
|
|
|
NM_001277115.2(DNAH11):c.7447C>T (p.Leu2483Phe)
|
rs766687907
|
|
|
NM_001277115.2(DNAH11):c.7449C>G (p.Leu2483=)
|
rs139339343
|
|
|
NM_001277115.2(DNAH11):c.7454A>G (p.His2485Arg)
|
rs2535083221
|
|
|
NM_001277115.2(DNAH11):c.7458A>T (p.Thr2486=)
|
rs2535083244
|
|
|
NM_001277115.2(DNAH11):c.7459A>G (p.Thr2487Ala)
|
rs541281775
|
|
|
NM_001277115.2(DNAH11):c.7472G>A (p.Arg2491His)
|
rs369438218
|
|
|
NM_001277115.2(DNAH11):c.7472G>C (p.Arg2491Pro)
|
rs369438218
|
|
|
NM_001277115.2(DNAH11):c.7485C>T (p.Phe2495=)
|
rs771739801
|
|
|
NM_001277115.2(DNAH11):c.7490A>G (p.Glu2497Gly)
|
rs2128489072
|
|
|
NM_001277115.2(DNAH11):c.7493del (p.Leu2498fs)
|
rs2535083418
|
|
|
NM_001277115.2(DNAH11):c.749G>A (p.Trp250Ter)
|
rs2534464142
|
|
|
NM_001277115.2(DNAH11):c.7507G>T (p.Gly2503Ter)
|
rs1785577120
|
|
|
NM_001277115.2(DNAH11):c.7515T>C (p.Pro2505=)
|
rs2535083466
|
|
|
NM_001277115.2(DNAH11):c.7525G>A (p.Val2509Ile)
|
rs1259559217
|
|
|
NM_001277115.2(DNAH11):c.7528G>A (p.Gly2510Arg)
|
rs1785578919
|
|
|
NM_001277115.2(DNAH11):c.752C>G (p.Ser251Ter)
|
rs1783373825
|
|
|
NM_001277115.2(DNAH11):c.7536A>T (p.Ala2512=)
|
rs2535083568
|
|
|
NM_001277115.2(DNAH11):c.7551A>T (p.Thr2517=)
|
|
|
|
NM_001277115.2(DNAH11):c.7560A>T (p.Val2520=)
|
rs765582248
|
|
|
NM_001277115.2(DNAH11):c.7562G>C (p.Gly2521Ala)
|
rs1233460351
|
|
|
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>G (p.Leu2527=)
|
rs753465818
|
|
|
NM_001277115.2(DNAH11):c.7581C>T (p.Leu2527=)
|
rs753465818
|
|
|
NM_001277115.2(DNAH11):c.7583_7584del (p.Leu2527_Ser2528insTer)
|
rs1223268225
|
|
|
NM_001277115.2(DNAH11):c.7585G>C (p.Glu2529Gln)
|
rs2535083777
|
|
|
NM_001277115.2(DNAH11):c.7600T>C (p.Ser2534Pro)
|
|
|
|
NM_001277115.2(DNAH11):c.7610C>T (p.Pro2537Leu)
|
rs1224992389
|
|
|
NM_001277115.2(DNAH11):c.7620C>T (p.Tyr2540=)
|
rs774304279
|
|
|
NM_001277115.2(DNAH11):c.7625C>G (p.Thr2542Arg)
|
rs772521645
|
|
|
NM_001277115.2(DNAH11):c.7626G>A (p.Thr2542=)
|
rs2072221
|
|
|
NM_001277115.2(DNAH11):c.7626G>T (p.Thr2542=)
|
rs2072221
|
|
|
NM_001277115.2(DNAH11):c.7632C>A (p.Ser2544=)
|
|
|
|
NM_001277115.2(DNAH11):c.7634C>T (p.Thr2545Ile)
|
rs759210659
|
|
|
NM_001277115.2(DNAH11):c.7636G>A (p.Ala2546Thr)
|
rs764813626
|
|
|
NM_001277115.2(DNAH11):c.7645+10C>T
|
rs751496370
|
|
|
NM_001277115.2(DNAH11):c.7645+11C>T
|
|
|
|
NM_001277115.2(DNAH11):c.7645+12del
|
rs2535084089
|
|
|
NM_001277115.2(DNAH11):c.7645+8C>A
|
rs2535084068
|
|
|
NM_001277115.2(DNAH11):c.7646-11G>A
|
rs1785730503
|
|
|
NM_001277115.2(DNAH11):c.7646-11G>T
|
rs1785730503
|
|
|
NM_001277115.2(DNAH11):c.7646-13A>G
|
|
|
|
NM_001277115.2(DNAH11):c.7646-14T>C
|
rs1411436996
|
|
|
NM_001277115.2(DNAH11):c.7646-15A>G
|
rs2535095746
|
|
|
NM_001277115.2(DNAH11):c.7646-16T>A
|
|
|
|
NM_001277115.2(DNAH11):c.7646-17AT[2]
|
rs753977245
|
|
|
NM_001277115.2(DNAH11):c.7646-18A>G
|
|
|
|
NM_001277115.2(DNAH11):c.7646-20G>A
|
rs759829173
|
|
|
NM_001277115.2(DNAH11):c.7646-60_7646-11del
|
rs2535095441
|
|
|
NM_001277115.2(DNAH11):c.7646-7A>T
|
rs772659566
|
|
|
NM_001277115.2(DNAH11):c.7653T>A (p.Leu2551=)
|
rs541595891
|
|
|
NM_001277115.2(DNAH11):c.7653T>C (p.Leu2551=)
|
rs541595891
|
|
|
NM_001277115.2(DNAH11):c.765A>G (p.Gln255=)
|
rs1370959936
|
|
|
NM_001277115.2(DNAH11):c.7665A>G (p.Leu2555=)
|
rs750305631
|
|
|
NM_001277115.2(DNAH11):c.7678G>A (p.Gly2560Ser)
|
|
|
|
NM_001277115.2(DNAH11):c.7697G>A (p.Gly2566Glu)
|
rs781662498
|
|
|
NM_001277115.2(DNAH11):c.7699G>C (p.Gly2567Arg)
|
rs773410943
|
|
|
NM_001277115.2(DNAH11):c.769A>G (p.Ile257Val)
|
rs778274749
|
|
|
NM_001277115.2(DNAH11):c.7704T>C (p.Asn2568=)
|
rs770176609
|
|
|
NM_001277115.2(DNAH11):c.7720T>G (p.Phe2574Val)
|
rs1583645903
|
|
|
NM_001277115.2(DNAH11):c.7727A>G (p.Asp2576Gly)
|
rs2535096116
|
|
|
NM_001277115.2(DNAH11):c.7729G>A (p.Asp2577Asn)
|
rs770532527
|
|
|
NM_001277115.2(DNAH11):c.7731C>T (p.Asp2577=)
|
rs372436526
|
|
|
NM_001277115.2(DNAH11):c.7734G>T (p.Met2578Ile)
|
|
|
|
NM_001277115.2(DNAH11):c.7749G>A (p.Val2583=)
|
|
|
|
NM_001277115.2(DNAH11):c.7749G>C (p.Val2583=)
|
rs1785736786
|
|
|
NM_001277115.2(DNAH11):c.774A>G (p.Ile258Met)
|
rs1436644904
|
|
|
NM_001277115.2(DNAH11):c.7758T>C (p.Tyr2586=)
|
rs766226365
|
|
|
NM_001277115.2(DNAH11):c.7773T>G (p.Pro2591=)
|
|
|
|
NM_001277115.2(DNAH11):c.7776C>A (p.His2592Gln)
|
rs1109806
|
|
|
NM_001277115.2(DNAH11):c.7788G>A (p.Arg2596=)
|
rs2535096468
|
|
|
NM_001277115.2(DNAH11):c.778A>G (p.Arg260Gly)
|
|
|
|
NM_001277115.2(DNAH11):c.7793A>G (p.His2598Arg)
|
rs1785739275
|
|
|
NM_001277115.2(DNAH11):c.7797T>A (p.Ile2599=)
|
rs917029751
|
|
|
NM_001277115.2(DNAH11):c.7811+15G>T
|
rs764357990
|
|
|
NM_001277115.2(DNAH11):c.7811+17A>G
|
rs751762397
|
|
|
NM_001277115.2(DNAH11):c.7811+18del
|
rs2535096610
|
|
|
NM_001277115.2(DNAH11):c.7811+5G>A
|
rs760682637
|
|
|
NM_001277115.2(DNAH11):c.7811+5G>C
|
rs760682637
|
|
|
NM_001277115.2(DNAH11):c.7811+7A>T
|
rs1785740654
|
|
|
NM_001277115.2(DNAH11):c.7811+9G>A
|
rs776491549
|
|
|
NM_001277115.2(DNAH11):c.7811+9G>C
|
rs776491549
|
|
|
NM_001277115.2(DNAH11):c.7812-11_7812-10del
|
rs2535099030
|
|
|
NM_001277115.2(DNAH11):c.7812-19T>C
|
rs747833749
|
|
|
NM_001277115.2(DNAH11):c.7812-2A>G
|
rs1166463469
|
|
|
NM_001277115.2(DNAH11):c.7812-7C>G
|
rs2535099062
|
|
|
NM_001277115.2(DNAH11):c.7812G>A (p.Trp2604Ter)
|
rs2535099086
|
|
|
NM_001277115.2(DNAH11):c.7818T>A (p.Asp2606Glu)
|
rs1049247750
|
|
|
NM_001277115.2(DNAH11):c.7818T>C (p.Asp2606=)
|
rs1049247750
|
|
|
NM_001277115.2(DNAH11):c.7819A>G (p.Arg2607Gly)
|
rs2535099103
|
|
|
NM_001277115.2(DNAH11):c.7824G>A (p.Gln2608=)
|
|
|
|
NM_001277115.2(DNAH11):c.7826del (p.Lys2609fs)
|
rs1489165107
|
|
|
NM_001277115.2(DNAH11):c.7833_7837dup (p.Lys2613fs)
|
rs2535099209
|
|
|
NM_001277115.2(DNAH11):c.7836T>G (p.Leu2612=)
|
rs2535099220
|
|
|
NM_001277115.2(DNAH11):c.7840G>C (p.Glu2614Gln)
|
rs762047594
|
|
|
NM_001277115.2(DNAH11):c.784T>G (p.Ser262Ala)
|
rs759930423
|
|
|
NM_001277115.2(DNAH11):c.7854C>T (p.Cys2618=)
|
rs2535099292
|
|
|
NM_001277115.2(DNAH11):c.7854_7857dup (p.Tyr2620fs)
|
rs2535099288
|
|
|
NM_001277115.2(DNAH11):c.7859A>G (p.Tyr2620Cys)
|
rs754268577
|
|
|
NM_001277115.2(DNAH11):c.7873A>T (p.Asn2625Tyr)
|
rs2535099417
|
|
|
NM_001277115.2(DNAH11):c.7880T>C (p.Met2627Thr)
|
rs906861635
|
|
|
NM_001277115.2(DNAH11):c.7891_7893del (p.Phe2631del)
|
rs1785785582
|
|
|
NM_001277115.2(DNAH11):c.7897A>G (p.Ile2633Val)
|
rs1583647020
|
|
|
NM_001277115.2(DNAH11):c.78C>G (p.Gly26=)
|
rs746309042
|
|
|
NM_001277115.2(DNAH11):c.7901A>T (p.Asn2634Ile)
|
rs9639393
|
|
|
NM_001277115.2(DNAH11):c.7904_7914+645del
|
rs1785786687
|
|
|
NM_001277115.2(DNAH11):c.7906A>C (p.Arg2636=)
|
rs2535099617
|
|
|
NM_001277115.2(DNAH11):c.7907_7914+646del
|
rs1583647043
|
|
|
NM_001277115.2(DNAH11):c.790C>A (p.Gln264Lys)
|
rs908898940
|
|
|
NM_001277115.2(DNAH11):c.7913A>C (p.Gln2638Pro)
|
rs1417718316
|
|
|
NM_001277115.2(DNAH11):c.7914+11G>C
|
rs2535099715
|
|
|
NM_001277115.2(DNAH11):c.7914+13A>C
|
rs2535099725
|
|
|
NM_001277115.2(DNAH11):c.7914+18_7914+20del
|
rs751334482
|
|
|
NM_001277115.2(DNAH11):c.7914+19C>T
|
rs1413907718
|
|
|
NM_001277115.2(DNAH11):c.7914+2T>C
|
rs2535099666
|
|
|
NM_001277115.2(DNAH11):c.7914+8G>A
|
rs2535099694
|
|
|
NM_001277115.2(DNAH11):c.7914G>C (p.Gln2638His)
|
rs72657362
|
|
|
NM_001277115.2(DNAH11):c.7915-13C>A
|
rs2535107084
|
|
|
NM_001277115.2(DNAH11):c.7915-16T>G
|
rs1232597842
|
|
|
NM_001277115.2(DNAH11):c.7915-17T>C
|
rs2535107049
|
|
|
NM_001277115.2(DNAH11):c.7915-19T>A
|
rs368480739
|
|
|
NM_001277115.2(DNAH11):c.7915-19T>C
|
rs368480739
|
|
|
NM_001277115.2(DNAH11):c.7915-1G>A
|
rs2535107151
|
|
|
NM_001277115.2(DNAH11):c.7915-20A>C
|
|
|
|
NM_001277115.2(DNAH11):c.7915-8C>A
|
rs2535107110
|
|
|
NM_001277115.2(DNAH11):c.7915-9dup
|
rs757101768
|
|
|
NM_001277115.2(DNAH11):c.7920T>G (p.His2640Gln)
|
rs764400516
|
|
|
NM_001277115.2(DNAH11):c.7928T>C (p.Val2643Ala)
|
rs1189265891
|
|
|
NM_001277115.2(DNAH11):c.7930T>G (p.Phe2644Val)
|
|
|
|
NM_001277115.2(DNAH11):c.7932T>A (p.Phe2644Leu)
|
rs904849195
|
|
|
NM_001277115.2(DNAH11):c.7935A>G (p.Ala2645=)
|
rs749989736
|
|
|
NM_001277115.2(DNAH11):c.793_794insCAGCT (p.Arg265fs)
|
rs770628646
|
|
|
NM_001277115.2(DNAH11):c.7946C>T (p.Pro2649Leu)
|
rs1785919312
|
|
|
NM_001277115.2(DNAH11):c.794G>C (p.Arg265Pro)
|
rs192989152
|
|
|
NM_001277115.2(DNAH11):c.7956T>A (p.Asp2652Glu)
|
rs2535107389
|
|
|
NM_001277115.2(DNAH11):c.7962A>G (p.Leu2654=)
|
rs747907976
|
|
|
NM_001277115.2(DNAH11):c.7971C>G (p.Ile2657Met)
|
|
|
|
NM_001277115.2(DNAH11):c.7978_7984dup (p.Phe2662fs)
|
rs2535107508
|
|
|
NM_001277115.2(DNAH11):c.7981del (p.Ile2661fs)
|
rs2128490901
|
|
|
NM_001277115.2(DNAH11):c.7999C>T (p.Gln2667Ter)
|
rs1191615331
|
|
|
NM_001277115.2(DNAH11):c.799T>C (p.Leu267=)
|
rs1783378110
|
|
|
NM_001277115.2(DNAH11):c.8004G>A (p.Gln2668=)
|
|
|
|
NM_001277115.2(DNAH11):c.8008G>T (p.Ala2670Ser)
|
rs1393179441
|
|
|
NM_001277115.2(DNAH11):c.8023A>G (p.Ile2675Val)
|
rs72657364
|
|
|
NM_001277115.2(DNAH11):c.8023A>T (p.Ile2675Phe)
|
rs72657364
|
|
|
NM_001277115.2(DNAH11):c.8028C>T (p.Leu2676=)
|
rs2535107859
|
|
|
NM_001277115.2(DNAH11):c.8029A>G (p.Arg2677Gly)
|
|
|
|
NM_001277115.2(DNAH11):c.8036G>C (p.Gly2679Ala)
|
rs753287409
|
|
|
NM_001277115.2(DNAH11):c.8039C>G (p.Pro2680Arg)
|
rs1785926972
|
|
|
NM_001277115.2(DNAH11):c.8050C>G (p.Gln2684Glu)
|
rs1230080456
|
|
|
NM_001277115.2(DNAH11):c.8065T>C (p.Phe2689Leu)
|
rs1785929432
|
|
|
NM_001277115.2(DNAH11):c.8071C>A (p.Gln2691Lys)
|
rs1471536262
|
|
|
NM_001277115.2(DNAH11):c.8077A>G (p.Met2693Val)
|
rs1362924474
|
|
|
NM_001277115.2(DNAH11):c.8082G>A (p.Met2694Ile)
|
rs1312552637
|
|
|
NM_001277115.2(DNAH11):c.808C>T (p.Leu270Phe)
|
rs763644686
|
|
|
NM_001277115.2(DNAH11):c.80T>G (p.Leu27Arg)
|
|
|
|
NM_001277115.2(DNAH11):c.8100G>T (p.Thr2700=)
|
rs72657365
|
|
|
NM_001277115.2(DNAH11):c.8115C>T (p.His2705=)
|
rs2535108306
|
|
|
NM_001277115.2(DNAH11):c.8117A>G (p.Tyr2706Cys)
|
rs1060503066
|
|
|
NM_001277115.2(DNAH11):c.8118C>T (p.Tyr2706=)
|
rs1785933650
|
|
|
NM_001277115.2(DNAH11):c.812A>G (p.His271Arg)
|
rs1240440566
|
|
|
NM_001277115.2(DNAH11):c.8130G>C (p.Leu2710=)
|
|
|
|
NM_001277115.2(DNAH11):c.8132_8135del (p.Arg2711fs)
|
rs1562521048
|
|
|
NM_001277115.2(DNAH11):c.8140T>A (p.Ser2714Thr)
|
rs1785934224
|
|
|
NM_001277115.2(DNAH11):c.8141C>G (p.Ser2714Ter)
|
rs1237605731
|
|
|
NM_001277115.2(DNAH11):c.8143A>G (p.Asn2715Asp)
|
rs549585242
|
|
|
NM_001277115.2(DNAH11):c.8143A>T (p.Asn2715Tyr)
|
rs549585242
|
|
|
NM_001277115.2(DNAH11):c.8144del (p.Asn2715fs)
|
rs1785934565
|
|
|
NM_001277115.2(DNAH11):c.8154+10C>G
|
rs2535108493
|
|
|
NM_001277115.2(DNAH11):c.8154+13C>T
|
rs2535108503
|
|
|
NM_001277115.2(DNAH11):c.8154+15C>T
|
rs937789282
|
|
|
NM_001277115.2(DNAH11):c.8154+18T>C
|
rs2128490952
|
|
|
NM_001277115.2(DNAH11):c.8154+19G>T
|
rs2535108560
|
|
|
NM_001277115.2(DNAH11):c.8154+8G>C
|
rs2535108480
|
|
|
NM_001277115.2(DNAH11):c.8154+9A>G
|
rs1785935804
|
|
|
NM_001277115.2(DNAH11):c.8155-15A>G
|
rs1786052893
|
|
|
NM_001277115.2(DNAH11):c.8155-4G>A
|
rs2535116614
|
|
|
NM_001277115.2(DNAH11):c.8155-5T>C
|
rs2535116607
|
|
|
NM_001277115.2(DNAH11):c.8155-9G>A
|
rs539005820
|
|
|
NM_001277115.2(DNAH11):c.8177A>G (p.Glu2726Gly)
|
rs1786054372
|
|
|
NM_001277115.2(DNAH11):c.8178G>A (p.Glu2726=)
|
rs2535116758
|
|
|
NM_001277115.2(DNAH11):c.8184A>C (p.Leu2728Phe)
|
rs374924146
|
|
|
NM_001277115.2(DNAH11):c.8184A>G (p.Leu2728=)
|
rs374924146
|
|
|
NM_001277115.2(DNAH11):c.8193A>C (p.Pro2731=)
|
rs1786055218
|
|
|
NM_001277115.2(DNAH11):c.8207A>G (p.His2736Arg)
|
rs956981336
|
|
|
NM_001277115.2(DNAH11):c.8211G>C (p.Leu2737=)
|
rs2535116895
|
|
|
NM_001277115.2(DNAH11):c.8221G>T (p.Glu2741Ter)
|
rs2535116914
|
|
|
NM_001277115.2(DNAH11):c.8227G>A (p.Ala2743Thr)
|
rs750124729
|
|
|
NM_001277115.2(DNAH11):c.8229C>T (p.Ala2743=)
|
rs1318056296
|
|
|
NM_001277115.2(DNAH11):c.8239G>A (p.Gly2747Arg)
|
|
|
|
NM_001277115.2(DNAH11):c.8242G>A (p.Asp2748Asn)
|
rs1554276379
|
|
|
NM_001277115.2(DNAH11):c.8260A>G (p.Lys2754Glu)
|
rs2535117108
|
|
|
NM_001277115.2(DNAH11):c.8274G>C (p.Leu2758Phe)
|
rs2535117187
|
|
|
NM_001277115.2(DNAH11):c.827C>A (p.Ala276Glu)
|
rs2534464590
|
|
|
NM_001277115.2(DNAH11):c.8316+10T>C
|
rs2535117439
|
|
|
NM_001277115.2(DNAH11):c.8316+17C>T
|
rs2535117472
|
|
|
NM_001277115.2(DNAH11):c.8316+5G>A
|
rs1048811611
|
|
|
NM_001277115.2(DNAH11):c.8316+6_8316+21del
|
rs779389491
|
|
|
NM_001277115.2(DNAH11):c.8317-14_8317-13del
|
rs772501839
|
|
|
NM_001277115.2(DNAH11):c.8317-16_8317-15del
|
rs2535118674
|
|
|
NM_001277115.2(DNAH11):c.8317-18C>G
|
rs1280646753
|
|
|
NM_001277115.2(DNAH11):c.8317-6C>T
|
rs2535118751
|
|
|
NM_001277115.2(DNAH11):c.8317-8T>C
|
rs2535118744
|
|
|
NM_001277115.2(DNAH11):c.8317-9A>G
|
rs2535118741
|
|
|
NM_001277115.2(DNAH11):c.8318G>A (p.Gly2773Asp)
|
rs201180532
|
|
|
NM_001277115.2(DNAH11):c.8346G>A (p.Gln2782=)
|
rs1466705750
|
|
|
NM_001277115.2(DNAH11):c.8349C>T (p.Pro2783=)
|
rs1330210517
|
|
|
NM_001277115.2(DNAH11):c.8355T>G (p.Ile2785Met)
|
|
|
|
NM_001277115.2(DNAH11):c.8366_8367del (p.Phe2789fs)
|
|
|
|
NM_001277115.2(DNAH11):c.8367T>A (p.Phe2789Leu)
|
rs755370038
|
|
|
NM_001277115.2(DNAH11):c.8371G>A (p.Asp2791Asn)
|
|
|
|
NM_001277115.2(DNAH11):c.8371G>C (p.Asp2791His)
|
rs752427757
|
|
|
NM_001277115.2(DNAH11):c.8379del (p.Lys2794fs)
|
rs2535119038
|
|
|
NM_001277115.2(DNAH11):c.8394C>T (p.Tyr2798=)
|
rs768132434
|
|
|
NM_001277115.2(DNAH11):c.8395A>G (p.Met2799Val)
|
rs1260565430
|
|
|
NM_001277115.2(DNAH11):c.8396T>C (p.Met2799Thr)
|
|
|
|
NM_001277115.2(DNAH11):c.8407_8416del (p.Asp2803fs)
|
rs2535119185
|
|
|
NM_001277115.2(DNAH11):c.8409C>T (p.Asp2803=)
|
rs868804543
|
|
|
NM_001277115.2(DNAH11):c.8411G>A (p.Trp2804Ter)
|
|
|
|
NM_001277115.2(DNAH11):c.8412G>A (p.Trp2804Ter)
|
rs1167519702
|
|
|
NM_001277115.2(DNAH11):c.8424G>A (p.Lys2808=)
|
rs2535119278
|
|
|
NM_001277115.2(DNAH11):c.8427G>C (p.Thr2809=)
|
rs745714334
|
|
|
NM_001277115.2(DNAH11):c.8427G>T (p.Thr2809=)
|
rs745714334
|
|
|
NM_001277115.2(DNAH11):c.8444T>G (p.Leu2815Ter)
|
rs1293819249
|
|
|
NM_001277115.2(DNAH11):c.8448C>T (p.Asp2816=)
|
rs1786080124
|
|
|
NM_001277115.2(DNAH11):c.8465A>C (p.Asn2822Thr)
|
rs1236453383
|
|
|
NM_001277115.2(DNAH11):c.8469T>A (p.Ala2823=)
|
rs773228517
|
|
|
NM_001277115.2(DNAH11):c.846G>A (p.Met282Ile)
|
rs375023124
|
|
|
NM_001277115.2(DNAH11):c.8486T>G (p.Leu2829Trp)
|
rs1362706641
|
|
|
NM_001277115.2(DNAH11):c.8496T>C (p.Asp2832=)
|
rs765719241
|
|
|
NM_001277115.2(DNAH11):c.8496T>G (p.Asp2832Glu)
|
rs765719241
|
|
|
NM_001277115.2(DNAH11):c.849G>A (p.Met283Ile)
|
rs1318853637
|
|
|
NM_001277115.2(DNAH11):c.8502G>A (p.Met2834Ile)
|
|
|
|
NM_001277115.2(DNAH11):c.850A>C (p.Arg284=)
|
rs2534464730
|
|
|
NM_001277115.2(DNAH11):c.8510+14T>A
|
rs2535119805
|
|
|
NM_001277115.2(DNAH11):c.8510+17C>G
|
rs374586159
|
|
|
NM_001277115.2(DNAH11):c.8510+17C>T
|
rs374586159
|
|
|
NM_001277115.2(DNAH11):c.8510+18G>T
|
rs756000648
|
|
|
NM_001277115.2(DNAH11):c.8511-14del
|
rs2535130279
|
|
|
NM_001277115.2(DNAH11):c.8511-15G>A
|
rs111471486
|
|
|
NM_001277115.2(DNAH11):c.8511-15G>T
|
rs111471486
|
|
|
NM_001277115.2(DNAH11):c.8511-17G>T
|
rs2535130243
|
|
|
NM_001277115.2(DNAH11):c.8511-8T>C
|
rs1786261015
|
|
|
NM_001277115.2(DNAH11):c.8516G>T (p.Arg2839Leu)
|
rs1253630975
|
|
|
NM_001277115.2(DNAH11):c.8517C>T (p.Arg2839=)
|
rs2535130355
|
|
|
NM_001277115.2(DNAH11):c.852G>A (p.Arg284=)
|
rs770222065
|
|
|
NM_001277115.2(DNAH11):c.8533C>A (p.Arg2845=)
|
rs121908854
|
|
|
NM_001277115.2(DNAH11):c.8539C>G (p.Pro2847Ala)
|
rs1374736886
|
|
|
NM_001277115.2(DNAH11):c.8539C>T (p.Pro2847Ser)
|
rs1374736886
|
|
|
NM_001277115.2(DNAH11):c.8550T>C (p.Cys2850=)
|
|
|
|
NM_001277115.2(DNAH11):c.8553T>G (p.Ala2851=)
|
rs2128492596
|
|
|
NM_001277115.2(DNAH11):c.8554C>G (p.Leu2852Val)
|
rs1363623324
|
|
|
NM_001277115.2(DNAH11):c.8558T>C (p.Leu2853Ser)
|
rs1053893041
|
|
|
NM_001277115.2(DNAH11):c.8558T>G (p.Leu2853Trp)
|
rs1053893041
|
|
|
NM_001277115.2(DNAH11):c.8559G>A (p.Leu2853=)
|
rs2535130635
|
|
|
NM_001277115.2(DNAH11):c.8560G>T (p.Val2854Phe)
|
rs1786264555
|
|
|
NM_001277115.2(DNAH11):c.8563G>A (p.Gly2855Arg)
|
rs1060503056
|
|
|
NM_001277115.2(DNAH11):c.8567T>C (p.Val2856Ala)
|
rs754822442
|
|
|
NM_001277115.2(DNAH11):c.8579G>T (p.Gly2860Val)
|
rs749830026
|
|
|
NM_001277115.2(DNAH11):c.8579_8582delinsACAG (p.Gly2860_Lys2861delinsAspArg)
|
rs1060503060
|
|
|
NM_001277115.2(DNAH11):c.8580C>T (p.Gly2860=)
|
rs371037594
|
|
|
NM_001277115.2(DNAH11):c.8589C>T (p.Ser2863=)
|
|
|
|
NM_001277115.2(DNAH11):c.8598G>A (p.Arg2866=)
|
rs2535130798
|
|
|
NM_001277115.2(DNAH11):c.8606C>T (p.Ala2869Val)
|
rs2128492615
|
|
|
NM_001277115.2(DNAH11):c.860dup (p.Asn287fs)
|
rs781372148
|
|
|
NM_001277115.2(DNAH11):c.8610C>G (p.Tyr2870Ter)
|
rs878854446
|
|
|
NM_001277115.2(DNAH11):c.8610C>T (p.Tyr2870=)
|
rs878854446
|
|
|
NM_001277115.2(DNAH11):c.8614C>T (p.Arg2872Cys)
|
rs760273596
|
|
|
NM_001277115.2(DNAH11):c.8619C>T (p.Gly2873=)
|
rs1451234501
|
|
|
NM_001277115.2(DNAH11):c.861T>A (p.Asn287Lys)
|
rs748907119
|
|
|
NM_001277115.2(DNAH11):c.8620C>T (p.Leu2874Phe)
|
rs1060503065
|
|
|
NM_001277115.2(DNAH11):c.8623G>C (p.Glu2875Gln)
|
rs2535130926
|
|
|
NM_001277115.2(DNAH11):c.8625G>A (p.Glu2875=)
|
|
|
|
NM_001277115.2(DNAH11):c.8640T>C (p.Thr2880=)
|
rs2535131004
|
|
|
NM_001277115.2(DNAH11):c.8643G>C (p.Leu2881=)
|
rs1786271274
|
|
|
NM_001277115.2(DNAH11):c.8645C>A (p.Thr2882Asn)
|
rs1351922809
|
|
|
NM_001277115.2(DNAH11):c.8646C>A (p.Thr2882=)
|
rs1464421155
|
|
|
NM_001277115.2(DNAH11):c.864G>A (p.Leu288=)
|
rs878854447
|
|
|
NM_001277115.2(DNAH11):c.8652C>T (p.Gly2884=)
|
rs2535131074
|
|
|
NM_001277115.2(DNAH11):c.8653T>C (p.Tyr2885His)
|
rs2535131088
|
|
|
NM_001277115.2(DNAH11):c.8654A>G (p.Tyr2885Cys)
|
rs758234780
|
|
|
NM_001277115.2(DNAH11):c.8661C>T (p.Ile2887=)
|
|
|
|
NM_001277115.2(DNAH11):c.8667A>T (p.Glu2889Asp)
|
rs1786272704
|
|
|
NM_001277115.2(DNAH11):c.8673+13G>C
|
|
|
|
NM_001277115.2(DNAH11):c.8673+13del
|
rs1786273315
|
|
|
NM_001277115.2(DNAH11):c.8673+13dup
|
rs1786273315
|
|
|
NM_001277115.2(DNAH11):c.8673+18G>A
|
rs1335935236
|
|
|
NM_001277115.2(DNAH11):c.8673+1G>A
|
rs1060503041
|
|
|
NM_001277115.2(DNAH11):c.8673+9A>G
|
rs1446313100
|
|
|
NM_001277115.2(DNAH11):c.8674-10T>C
|
rs1786315607
|
|
|
NM_001277115.2(DNAH11):c.8674-12C>G
|
rs748687565
|
|
|
NM_001277115.2(DNAH11):c.8674-13C>A
|
rs560758338
|
|
|
NM_001277115.2(DNAH11):c.8674-17A>G
|
rs2535134345
|
|
|
NM_001277115.2(DNAH11):c.8674-1G>A
|
rs2535134459
|
|
|
NM_001277115.2(DNAH11):c.8674-20G>A
|
rs753994285
|
|
|
NM_001277115.2(DNAH11):c.8674-20G>C
|
rs753994285
|
|
|
NM_001277115.2(DNAH11):c.8674-6T>C
|
rs963386465
|
|
|
NM_001277115.2(DNAH11):c.8674-8C>A
|
rs908852795
|
|
|
NM_001277115.2(DNAH11):c.8680C>A (p.Leu2894Ile)
|
rs778125255
|
|
|
NM_001277115.2(DNAH11):c.8687A>G (p.Asn2896Ser)
|
rs1043674651
|
|
|
NM_001277115.2(DNAH11):c.8689T>C (p.Leu2897=)
|
rs1583656714
|
|
|
NM_001277115.2(DNAH11):c.8705G>C (p.Gly2902Ala)
|
rs2535134614
|
|
|
NM_001277115.2(DNAH11):c.8709del (p.Lys2904fs)
|
rs2128492914
|
|
|
NM_001277115.2(DNAH11):c.870C>T (p.Cys290=)
|
rs1157677299
|
|
|
NM_001277115.2(DNAH11):c.8714A>T (p.Asn2905Ile)
|
rs1554276924
|
|
|
NM_001277115.2(DNAH11):c.8736G>C (p.Leu2912=)
|
rs1346348168
|
|
|
NM_001277115.2(DNAH11):c.8739A>T (p.Thr2913=)
|
rs1399503552
|
|
|
NM_001277115.2(DNAH11):c.8751T>A (p.Val2917=)
|
rs1786323159
|
|
|
NM_001277115.2(DNAH11):c.8761A>G (p.Ser2921Gly)
|
|
|
|
NM_001277115.2(DNAH11):c.8769C>G (p.Leu2923=)
|
|
|
|
NM_001277115.2(DNAH11):c.8769C>T (p.Leu2923=)
|
rs1192451121
|
|
|
NM_001277115.2(DNAH11):c.876T>C (p.Tyr292=)
|
rs2128431283
|
|
|
NM_001277115.2(DNAH11):c.8773C>G (p.Leu2925Val)
|
|
|
|
NM_001277115.2(DNAH11):c.8774T>C (p.Leu2925Pro)
|
rs757539934
|
|
|
NM_001277115.2(DNAH11):c.8778T>C (p.Ile2926=)
|
rs781151745
|
|
|
NM_001277115.2(DNAH11):c.8782G>A (p.Asp2928Asn)
|
rs768758217
|
|
|
NM_001277115.2(DNAH11):c.8782G>T (p.Asp2928Tyr)
|
rs768758217
|
|
|
NM_001277115.2(DNAH11):c.8784C>T (p.Asp2928=)
|
|
|
|
NM_001277115.2(DNAH11):c.8797+12A>C
|
rs372924996
|
|
|
NM_001277115.2(DNAH11):c.8797+12A>G
|
rs372924996
|
|
|
NM_001277115.2(DNAH11):c.8797+16C>T
|
rs557761869
|
|
|
NM_001277115.2(DNAH11):c.8798-11C>A
|
rs2128493104
|
|
|
NM_001277115.2(DNAH11):c.8798-13T>C
|
rs2535136920
|
|
|
NM_001277115.2(DNAH11):c.8798-15C>T
|
rs1178512410
|
|
|
NM_001277115.2(DNAH11):c.8798-1G>A
|
rs1282229623
|
|
|
NM_001277115.2(DNAH11):c.8798-2A>G
|
rs2535136966
|
|
|
NM_001277115.2(DNAH11):c.87A>G (p.Ala29=)
|
rs1445106476
|
|
|
NM_001277115.2(DNAH11):c.8808A>C (p.Pro2936=)
|
rs1786354588
|
|
|
NM_001277115.2(DNAH11):c.8809G>A (p.Asp2937Asn)
|
rs538735006
|
|
|
NM_001277115.2(DNAH11):c.8814G>C (p.Leu2938=)
|
rs1028924134
|
|
|
NM_001277115.2(DNAH11):c.882+14C>T
|
rs1441705688
|
|
|
NM_001277115.2(DNAH11):c.882+9A>C
|
rs767364968
|
|
|
NM_001277115.2(DNAH11):c.8821G>A (p.Asp2941Asn)
|
rs776368544
|
|
|
NM_001277115.2(DNAH11):c.8827G>C (p.Asp2943His)
|
rs768863196
|
|
|
NM_001277115.2(DNAH11):c.883-11C>A
|
rs1282680389
|
|
|
NM_001277115.2(DNAH11):c.883-11C>T
|
rs1282680389
|
|
|
NM_001277115.2(DNAH11):c.883-13T>A
|
rs1783439046
|
|
|
NM_001277115.2(DNAH11):c.883-13del
|
rs776036024
|
|
|
NM_001277115.2(DNAH11):c.883-19T>A
|
|
|
|
NM_001277115.2(DNAH11):c.883-19T>C
|
rs1372569012
|
|
|
NM_001277115.2(DNAH11):c.883-1G>A
|
rs2534482993
|
|
|
NM_001277115.2(DNAH11):c.8835C>G (p.Asp2945Glu)
|
rs1398439669
|
|
|
NM_001277115.2(DNAH11):c.8839A>G (p.Ile2947Val)
|
rs1786356687
|
|
|
NM_001277115.2(DNAH11):c.8840T>C (p.Ile2947Thr)
|
rs371902496
|
|
|
NM_001277115.2(DNAH11):c.8852T>C (p.Ile2951Thr)
|
rs761944024
|
|
|
NM_001277115.2(DNAH11):c.8863G>T (p.Val2955Phe)
|
|
|
|
NM_001277115.2(DNAH11):c.8866C>T (p.His2956Tyr)
|
rs2535137235
|
|
|
NM_001277115.2(DNAH11):c.8870C>T (p.Ala2957Val)
|
rs369875222
|
|
|
NM_001277115.2(DNAH11):c.8877C>T (p.Gly2959=)
|
|
|
|
NM_001277115.2(DNAH11):c.8886C>T (p.Asp2962=)
|
rs2535137346
|
|
|
NM_001277115.2(DNAH11):c.8888C>G (p.Ser2963Cys)
|
rs374033085
|
|
|
NM_001277115.2(DNAH11):c.8895A>G (p.Glu2965=)
|
rs1786359977
|
|
|
NM_001277115.2(DNAH11):c.8898C>T (p.Asn2966=)
|
rs1786360196
|
|
|
NM_001277115.2(DNAH11):c.8904G>A (p.Trp2968Ter)
|
rs1426204968
|
|
|
NM_001277115.2(DNAH11):c.8913T>G (p.Phe2971Leu)
|
rs1554277057
|
|
|
NM_001277115.2(DNAH11):c.891A>T (p.Ala297=)
|
rs201934527
|
|
|
NM_001277115.2(DNAH11):c.8925G>T (p.Val2975=)
|
rs2535137613
|
|
|
NM_001277115.2(DNAH11):c.8927G>A (p.Arg2976Gln)
|
rs370466246
|
|
|
NM_001277115.2(DNAH11):c.8928A>T (p.Arg2976=)
|
rs1245859138
|
|
|
NM_001277115.2(DNAH11):c.8935C>T (p.Leu2979Phe)
|
|
|
|
NM_001277115.2(DNAH11):c.893C>T (p.Pro298Leu)
|
|
|
|
NM_001277115.2(DNAH11):c.8940+15C>A
|
|
|
|
NM_001277115.2(DNAH11):c.8940+1G>A
|
rs2535137725
|
|
|
NM_001277115.2(DNAH11):c.8940+1G>T
|
rs2535137725
|
|
|
NM_001277115.2(DNAH11):c.8940+9T>G
|
rs2535137753
|
|
|
NM_001277115.2(DNAH11):c.8941-13C>T
|
rs747082286
|
|
|
NM_001277115.2(DNAH11):c.8941-13del
|
rs1787130758
|
|
|
NM_001277115.2(DNAH11):c.8941-13dup
|
rs1787130758
|
|
|
NM_001277115.2(DNAH11):c.8949G>C (p.Leu2983Phe)
|
|
|
|
NM_001277115.2(DNAH11):c.895_896dup (p.Val300fs)
|
rs2534483084
|
|
|
NM_001277115.2(DNAH11):c.8968C>G (p.Arg2990Gly)
|
|
|
|
NM_001277115.2(DNAH11):c.8968C>T (p.Arg2990Cys)
|
|
|
|
NM_001277115.2(DNAH11):c.8C>A (p.Ala3Asp)
|
rs1227064699
|
|
|
NM_001277115.2(DNAH11):c.8C>T (p.Ala3Val)
|
rs1227064699
|
|
|
NM_001277115.2(DNAH11):c.9013T>A (p.Cys3005Ser)
|
rs369196786
|
|
|
NM_001277115.2(DNAH11):c.9013T>C (p.Cys3005Arg)
|
rs369196786
|
|
|
NM_001277115.2(DNAH11):c.9019G>A (p.Ala3007Thr)
|
rs375511101
|
|
|
NM_001277115.2(DNAH11):c.9021T>C (p.Ala3007=)
|
rs1358246774
|
|
|
NM_001277115.2(DNAH11):c.9042G>A (p.Trp3014Ter)
|
rs2535189943
|
|
|
NM_001277115.2(DNAH11):c.9044C>T (p.Pro3015Leu)
|
rs749849152
|
|
|
NM_001277115.2(DNAH11):c.9045G>A (p.Pro3015=)
|
rs200558824
|
|
|
NM_001277115.2(DNAH11):c.9053C>T (p.Ala3018Val)
|
rs1308865734
|
|
|
NM_001277115.2(DNAH11):c.9060C>G (p.Val3020=)
|
rs2535190059
|
|
|
NM_001277115.2(DNAH11):c.9078C>T (p.Phe3026=)
|
rs2535190136
|
|
|
NM_001277115.2(DNAH11):c.9079A>T (p.Ile3027Phe)
|
|
|
|
NM_001277115.2(DNAH11):c.9088A>G (p.Thr3030Ala)
|
rs2535190194
|
|
|
NM_001277115.2(DNAH11):c.9102+10G>C
|
|
|
|
NM_001277115.2(DNAH11):c.9102+13A>T
|
rs894767570
|
|
|
NM_001277115.2(DNAH11):c.9102+14G>T
|
rs1169564447
|
|
|
NM_001277115.2(DNAH11):c.9102+18G>T
|
|
|
|
NM_001277115.2(DNAH11):c.9102+19C>A
|
rs771704384
|
|
|
NM_001277115.2(DNAH11):c.9102+20G>A
|
rs60554135
|
|
|
NM_001277115.2(DNAH11):c.9102+20G>T
|
rs60554135
|
|
|
NM_001277115.2(DNAH11):c.9102+8G>T
|
rs72657374
|
|
|
NM_001277115.2(DNAH11):c.9103-10G>A
|
rs1787540183
|
|
|
NM_001277115.2(DNAH11):c.9103-13T>C
|
rs1583680275
|
|
|
NM_001277115.2(DNAH11):c.9103-4del
|
rs1330590486
|
|
|
NM_001277115.2(DNAH11):c.9103-6T>C
|
rs2535217411
|
|
|
NM_001277115.2(DNAH11):c.9103-8_9103-7del
|
rs1206429804
|
|
|
NM_001277115.2(DNAH11):c.9103C>T (p.Pro3035Ser)
|
|
|
|
NM_001277115.2(DNAH11):c.9104C>A (p.Pro3035Gln)
|
|
|
|
NM_001277115.2(DNAH11):c.9113_9116del (p.Lys3038fs)
|
rs1238389932
|
|
|
NM_001277115.2(DNAH11):c.9119_9120del (p.Ser3040fs)
|
rs1787541407
|
|
|
NM_001277115.2(DNAH11):c.9121A>G (p.Ile3041Val)
|
rs755550337
|
|
|
NM_001277115.2(DNAH11):c.9121A>T (p.Ile3041Phe)
|
rs755550337
|
|
|
NM_001277115.2(DNAH11):c.9126C>G (p.Ser3042Arg)
|
rs757136516
|
|
|
NM_001277115.2(DNAH11):c.9133A>G (p.Met3045Val)
|
rs779364693
|
|
|
NM_001277115.2(DNAH11):c.9139C>T (p.His3047Tyr)
|
rs1159816817
|
|
|
NM_001277115.2(DNAH11):c.9141T>C (p.His3047=)
|
rs1787542507
|
|
|
NM_001277115.2(DNAH11):c.9147C>T (p.His3049=)
|
rs1583680376
|
|
|
NM_001277115.2(DNAH11):c.9151A>G (p.Thr3051Ala)
|
rs1468054487
|
|
|
NM_001277115.2(DNAH11):c.9168T>C (p.Ser3056=)
|
rs371441681
|
|
|
NM_001277115.2(DNAH11):c.9172A>G (p.Arg3058Gly)
|
rs2535217745
|
|
|
NM_001277115.2(DNAH11):c.9173G>C (p.Arg3058Thr)
|
rs770558724
|
|
|
NM_001277115.2(DNAH11):c.9177T>C (p.Tyr3059=)
|
rs2535217783
|
|
|
NM_001277115.2(DNAH11):c.9181C>T (p.Gln3061Ter)
|
rs2535217792
|
|
|
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.9209C>G (p.Thr3070Ser)
|
rs527922611
|
|
|
NM_001277115.2(DNAH11):c.9212C>A (p.Pro3071Gln)
|
rs1216148023
|
|
|
NM_001277115.2(DNAH11):c.9218G>T (p.Ser3073Ile)
|
rs766622461
|
|
|
NM_001277115.2(DNAH11):c.9218_9219delinsTC (p.Ser3073Ile)
|
rs2535218040
|
|
|
NM_001277115.2(DNAH11):c.921G>A (p.Leu307=)
|
rs1475376424
|
|
|
NM_001277115.2(DNAH11):c.9228A>G (p.Glu3076=)
|
rs2535218099
|
|
|
NM_001277115.2(DNAH11):c.9228del (p.Glu3076fs)
|
rs2535218090
|
|
|
NM_001277115.2(DNAH11):c.9241T>G (p.Phe3081Val)
|
rs759593113
|
|
|
NM_001277115.2(DNAH11):c.9243T>A (p.Phe3081Leu)
|
rs367808905
|
|
|
NM_001277115.2(DNAH11):c.9243del (p.Phe3081fs)
|
rs2535218168
|
|
|
NM_001277115.2(DNAH11):c.9245A>G (p.Lys3082Arg)
|
|
|
|
NM_001277115.2(DNAH11):c.9250C>A (p.Leu3084Met)
|
rs566490774
|
|
|
NM_001277115.2(DNAH11):c.9250C>G (p.Leu3084Val)
|
rs566490774
|
|
|
NM_001277115.2(DNAH11):c.9250C>T (p.Leu3084=)
|
|
|
|
NM_001277115.2(DNAH11):c.9259A>G (p.Lys3087Glu)
|
rs2535218235
|
|
|
NM_001277115.2(DNAH11):c.9261G>A (p.Lys3087=)
|
rs1787548944
|
|
|
NM_001277115.2(DNAH11):c.9266A>G (p.Gln3089Arg)
|
|
|
|
NM_001277115.2(DNAH11):c.926C>A (p.Thr309Asn)
|
rs1430611264
|
|
|
NM_001277115.2(DNAH11):c.9276A>G (p.Val3092=)
|
rs2535218298
|
|
|
NM_001277115.2(DNAH11):c.927_931del (p.Ser312fs)
|
rs1266458783
|
|
|
NM_001277115.2(DNAH11):c.9288dup (p.Glu3097fs)
|
rs771781357
|
|
|
NM_001277115.2(DNAH11):c.9300G>A (p.Val3100=)
|
rs889713685
|
|
|
NM_001277115.2(DNAH11):c.9300G>C (p.Val3100=)
|
rs889713685
|
|
|
NM_001277115.2(DNAH11):c.9312A>G (p.Gln3104=)
|
rs886062181
|
|
|
NM_001277115.2(DNAH11):c.9315G>A (p.Lys3105=)
|
rs2535218496
|
|
|
NM_001277115.2(DNAH11):c.9324C>T (p.Thr3108=)
|
rs2535218544
|
|
|
NM_001277115.2(DNAH11):c.9333T>G (p.Ser3111=)
|
rs1787553005
|
|
|
NM_001277115.2(DNAH11):c.9336+12A>C
|
rs2535218702
|
|
|
NM_001277115.2(DNAH11):c.9336+14G>A
|
|
|
|
NM_001277115.2(DNAH11):c.9336+15T>C
|
rs1288250765
|
|
|
NM_001277115.2(DNAH11):c.9336+17T>G
|
rs2535218736
|
|
|
NM_001277115.2(DNAH11):c.9336+1G>T
|
|
|
|
NM_001277115.2(DNAH11):c.9336+20T>C
|
rs959583160
|
|
|
NM_001277115.2(DNAH11):c.9336+3A>G
|
rs2535218624
|
|
|
NM_001277115.2(DNAH11):c.9337-12C>T
|
|
|
|
NM_001277115.2(DNAH11):c.9337-12_9398dup
|
rs2535234176
|
|
|
NM_001277115.2(DNAH11):c.9337-13A>G
|
rs2127982479
|
|
|
NM_001277115.2(DNAH11):c.9337-5T>A
|
rs866919314
|
|
|
NM_001277115.2(DNAH11):c.9337-8del
|
rs2535234205
|
|
|
NM_001277115.2(DNAH11):c.9342A>G (p.Gly3114=)
|
rs2535234255
|
|
|
NM_001277115.2(DNAH11):c.9345T>C (p.Asp3115=)
|
rs771886434
|
|
|
NM_001277115.2(DNAH11):c.9352G>T (p.Ala3118Ser)
|
rs1334064628
|
|
|
NM_001277115.2(DNAH11):c.9363C>G (p.Ala3121=)
|
rs763055953
|
|
|
NM_001277115.2(DNAH11):c.9366T>C (p.Ser3122=)
|
rs886038476
|
|
|
NM_001277115.2(DNAH11):c.9366del (p.Gln3123fs)
|
rs2477489047
|
|
|
NM_001277115.2(DNAH11):c.9379C>T (p.Leu3127=)
|
|
|
|
NM_001277115.2(DNAH11):c.9380T>G (p.Leu3127Arg)
|
rs755885697
|
|
|
NM_001277115.2(DNAH11):c.9393T>C (p.Asn3131=)
|
rs1466813671
|
|
|
NM_001277115.2(DNAH11):c.939C>G (p.Ser313Arg)
|
rs72655977
|
|
|
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.9402C>T (p.Ala3134=)
|
rs148800414
|
|
|
NM_001277115.2(DNAH11):c.9406G>T (p.Ala3136Ser)
|
rs2127982511
|
|
|
NM_001277115.2(DNAH11):c.9409C>T (p.Leu3137=)
|
rs2535234527
|
|
|
NM_001277115.2(DNAH11):c.9411G>T (p.Leu3137=)
|
rs775668376
|
|
|
NM_001277115.2(DNAH11):c.941A>C (p.Tyr314Ser)
|
|
|
|
NM_001277115.2(DNAH11):c.9426C>T (p.Gly3142=)
|
rs1787814435
|
|
|
NM_001277115.2(DNAH11):c.9429T>C (p.Leu3143=)
|
rs2535234624
|
|
|
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.9436G>T (p.Glu3146Ter)
|
rs762421117
|
|
|
NM_001277115.2(DNAH11):c.9436del (p.Glu3146fs)
|
rs2535234805
|
|
|
NM_001277115.2(DNAH11):c.9438_9439del (p.Lys3147fs)
|
|
|
|
NM_001277115.2(DNAH11):c.9447C>G (p.Ser3149Arg)
|
rs773755540
|
|
|
NM_001277115.2(DNAH11):c.9448C>A (p.Arg3150=)
|
rs761102719
|
|
|
NM_001277115.2(DNAH11):c.9453A>G (p.Glu3151=)
|
rs2535234919
|
|
|
NM_001277115.2(DNAH11):c.9464C>G (p.Ala3155Gly)
|
rs758398330
|
|
|
NM_001277115.2(DNAH11):c.9474G>A (p.Glu3158=)
|
rs2535235055
|
|
|
NM_001277115.2(DNAH11):c.9478C>G (p.Arg3160Gly)
|
rs1787819788
|
|
|
NM_001277115.2(DNAH11):c.9478C>T (p.Arg3160Ter)
|
rs1787819788
|
|
|
NM_001277115.2(DNAH11):c.9480A>T (p.Arg3160=)
|
rs536754956
|
|
|
NM_001277115.2(DNAH11):c.9483+13C>T
|
|
|
|
NM_001277115.2(DNAH11):c.9483+14C>G
|
rs776804231
|
|
|
NM_001277115.2(DNAH11):c.9483+16A>G
|
|
|
|
NM_001277115.2(DNAH11):c.9484-16T>G
|
|
|
|
NM_001277115.2(DNAH11):c.9484-18_9486del
|
rs1788083949
|
|
|
NM_001277115.2(DNAH11):c.9484-7del
|
rs2535252158
|
|
|
NM_001277115.2(DNAH11):c.9484G>A (p.Val3162Met)
|
rs761864384
|
|
|
NM_001277115.2(DNAH11):c.9488C>T (p.Thr3163Ile)
|
rs1450055499
|
|
|
NM_001277115.2(DNAH11):c.948T>A (p.Pro316=)
|
rs776466911
|
|
|
NM_001277115.2(DNAH11):c.9498G>A (p.Gln3166=)
|
rs2535252276
|
|
|
NM_001277115.2(DNAH11):c.950C>G (p.Thr317Ser)
|
rs1344091460
|
|
|
NM_001277115.2(DNAH11):c.9511C>T (p.Gln3171Ter)
|
rs2535252328
|
|
|
NM_001277115.2(DNAH11):c.9512A>G (p.Gln3171Arg)
|
rs1180171575
|
|
|
NM_001277115.2(DNAH11):c.9516A>G (p.Lys3172=)
|
|
|
|
NM_001277115.2(DNAH11):c.9527G>A (p.Cys3176Tyr)
|
|
|
|
NM_001277115.2(DNAH11):c.9528T>C (p.Cys3176=)
|
rs2535252411
|
|
|
NM_001277115.2(DNAH11):c.9540A>G (p.Leu3180=)
|
rs2535252445
|
|
|
NM_001277115.2(DNAH11):c.9542T>A (p.Leu3181His)
|
rs747056886
|
|
|
NM_001277115.2(DNAH11):c.9542T>C (p.Leu3181Pro)
|
rs747056886
|
|
|
NM_001277115.2(DNAH11):c.9543C>T (p.Leu3181=)
|
rs757824695
|
|
|
NM_001277115.2(DNAH11):c.9553C>A (p.Pro3185Thr)
|
rs960341299
|
|
|
NM_001277115.2(DNAH11):c.9560_9561insAGTT (p.Ala3189fs)
|
rs2535252563
|
|
|
NM_001277115.2(DNAH11):c.9561G>A (p.Leu3187=)
|
rs6965750
|
|
|
NM_001277115.2(DNAH11):c.9561G>C (p.Leu3187=)
|
rs6965750
|
|
|
NM_001277115.2(DNAH11):c.9563T>A (p.Val3188Glu)
|
rs761194521
|
|
|
NM_001277115.2(DNAH11):c.9572C>T (p.Thr3191Ile)
|
rs760597183
|
|
|
NM_001277115.2(DNAH11):c.9581_9582del (p.Leu3194fs)
|
rs756621896
|
|
|
NM_001277115.2(DNAH11):c.9597+1G>A
|
|
|
|
NM_001277115.2(DNAH11):c.9598-10T>C
|
rs2535259317
|
|
|
NM_001277115.2(DNAH11):c.9598-16G>C
|
rs183862333
|
|
|
NM_001277115.2(DNAH11):c.9598-18C>T
|
rs2535259272
|
|
|
NM_001277115.2(DNAH11):c.9598-1G>C
|
rs2535259357
|
|
|
NM_001277115.2(DNAH11):c.9598-24_9598-11del
|
rs2535259220
|
|
|
NM_001277115.2(DNAH11):c.9598-7T>C
|
rs2535259326
|
|
|
NM_001277115.2(DNAH11):c.9602A>G (p.Asn3201Ser)
|
rs762025592
|
|
|
NM_001277115.2(DNAH11):c.9608G>C (p.Ser3203Thr)
|
rs1173139296
|
|
|
NM_001277115.2(DNAH11):c.9627C>A (p.Pro3209=)
|
rs200256329
|
|
|
NM_001277115.2(DNAH11):c.9627C>G (p.Pro3209=)
|
rs200256329
|
|
|
NM_001277115.2(DNAH11):c.9627C>T (p.Pro3209=)
|
rs200256329
|
|
|
NM_001277115.2(DNAH11):c.9629A>C (p.Asn3210Thr)
|
rs747449460
|
|
|
NM_001277115.2(DNAH11):c.9640G>A (p.Ala3214Thr)
|
rs141979671
|
|
|
NM_001277115.2(DNAH11):c.9640G>T (p.Ala3214Ser)
|
rs141979671
|
|
|
NM_001277115.2(DNAH11):c.9643G>C (p.Val3215Leu)
|
rs2535259608
|
|
|
NM_001277115.2(DNAH11):c.9646A>G (p.Thr3216Ala)
|
rs746491192
|
|
|
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.9665T>C (p.Val3222Ala)
|
rs769477190
|
|
|
NM_001277115.2(DNAH11):c.966dup (p.Leu323fs)
|
rs1462707634
|
|
|
NM_001277115.2(DNAH11):c.9671del (p.Val3224fs)
|
rs2535259763
|
|
|
NM_001277115.2(DNAH11):c.9672C>T (p.Val3224=)
|
rs1583693892
|
|
|
NM_001277115.2(DNAH11):c.9675_9677del (p.Leu3226del)
|
rs759608996
|
|
|
NM_001277115.2(DNAH11):c.9676C>G (p.Leu3226Val)
|
rs1788210081
|
|
|
NM_001277115.2(DNAH11):c.9686G>C (p.Arg3229Pro)
|
rs372970766
|
|
|
NM_001277115.2(DNAH11):c.9689G>A (p.Gly3230Glu)
|
rs1788210894
|
|
|
NM_001277115.2(DNAH11):c.9691A>C (p.Arg3231=)
|
rs1206742171
|
|
|
NM_001277115.2(DNAH11):c.9691A>G (p.Arg3231Gly)
|
rs1206742171
|
|
|
NM_001277115.2(DNAH11):c.9699C>T (p.Pro3233=)
|
rs754349465
|
|
|
NM_001277115.2(DNAH11):c.9708A>G (p.Arg3236=)
|
rs2535259919
|
|
|
NM_001277115.2(DNAH11):c.9717A>G (p.Lys3239=)
|
rs2535259957
|
|
|
NM_001277115.2(DNAH11):c.9718G>A (p.Ala3240Thr)
|
rs2127986981
|
|
|
NM_001277115.2(DNAH11):c.9723T>C (p.Ala3241=)
|
rs1237446961
|
|
|
NM_001277115.2(DNAH11):c.9729C>T (p.Val3243=)
|
rs2535260083
|
|
|
NM_001277115.2(DNAH11):c.9732C>G (p.Phe3244Leu)
|
rs878854449
|
|
|
NM_001277115.2(DNAH11):c.9734del (p.Met3245fs)
|
rs2535260111
|
|
|
NM_001277115.2(DNAH11):c.9735G>T (p.Met3245Ile)
|
rs1348699797
|
|
|
NM_001277115.2(DNAH11):c.9741+10C>T
|
rs2535260188
|
|
|
NM_001277115.2(DNAH11):c.9741+12G>A
|
rs2535260209
|
|
|
NM_001277115.2(DNAH11):c.9741+12G>C
|
rs2535260209
|
|
|
NM_001277115.2(DNAH11):c.9741+13C>A
|
rs1254000408
|
|
|
NM_001277115.2(DNAH11):c.9741+14C>G
|
rs760821457
|
|
|
NM_001277115.2(DNAH11):c.9741+19A>T
|
rs766461710
|
|
|
NM_001277115.2(DNAH11):c.9741+9C>G
|
|
|
|
NM_001277115.2(DNAH11):c.9742-14T>A
|
rs2535262441
|
|
|
NM_001277115.2(DNAH11):c.9742-1G>C
|
|
|
|
NM_001277115.2(DNAH11):c.9742-4G>A
|
rs370896008
|
|
|
NM_001277115.2(DNAH11):c.9742-4G>C
|
rs370896008
|
|
|
NM_001277115.2(DNAH11):c.9742-4G>T
|
rs370896008
|
|
|
NM_001277115.2(DNAH11):c.9752T>C (p.Phe3251Ser)
|
|
|
|
NM_001277115.2(DNAH11):c.9755dup (p.Leu3252fs)
|
rs1472494326
|
|
|
NM_001277115.2(DNAH11):c.9756G>A (p.Leu3252=)
|
rs2535262587
|
|
|
NM_001277115.2(DNAH11):c.9761C>A (p.Ala3254Glu)
|
rs1788237725
|
|
|
NM_001277115.2(DNAH11):c.9766A>G (p.Ile3256Val)
|
rs1188195580
|
|
|
NM_001277115.2(DNAH11):c.9767T>C (p.Ile3256Thr)
|
rs776732381
|
|
|
NM_001277115.2(DNAH11):c.9772T>C (p.Tyr3258His)
|
|
|
|
NM_001277115.2(DNAH11):c.9773A>T (p.Tyr3258Phe)
|
rs182808328
|
|
|
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.9783G>T (p.Glu3261Asp)
|
rs201944089
|
|
|
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.9792A>G (p.Pro3264=)
|
rs1340687736
|
|
|
NM_001277115.2(DNAH11):c.97G>A (p.Val33Met)
|
rs1401125804
|
|
|
NM_001277115.2(DNAH11):c.9808del (p.Val3270fs)
|
rs2535262841
|
|
|
NM_001277115.2(DNAH11):c.9815A>G (p.Asn3272Ser)
|
rs1554281016
|
|
|
NM_001277115.2(DNAH11):c.9816T>C (p.Asn3272=)
|
rs779389497
|
|
|
NM_001277115.2(DNAH11):c.9816T>G (p.Asn3272Lys)
|
rs779389497
|
|
|
NM_001277115.2(DNAH11):c.9817G>A (p.Glu3273Lys)
|
|
|
|
NM_001277115.2(DNAH11):c.9817del (p.Glu3273fs)
|
rs2535262912
|
|
|
NM_001277115.2(DNAH11):c.9819A>T (p.Glu3273Asp)
|
rs778746926
|
|
|
NM_001277115.2(DNAH11):c.982+11T>C
|
rs750435389
|
|
|
NM_001277115.2(DNAH11):c.982+11T>G
|
rs750435389
|
|
|
NM_001277115.2(DNAH11):c.982+15C>G
|
rs1469089609
|
|
|
NM_001277115.2(DNAH11):c.982+16C>T
|
rs2534483722
|
|
|
NM_001277115.2(DNAH11):c.982+17T>G
|
rs1381542711
|
|
|
NM_001277115.2(DNAH11):c.982+1G>C
|
rs2534483587
|
|
|
NM_001277115.2(DNAH11):c.982+20G>C
|
rs2534483764
|
|
|
NM_001277115.2(DNAH11):c.982+20G>T
|
|
|
|
NM_001277115.2(DNAH11):c.982+7del
|
rs2534483645
|
|
|
NM_001277115.2(DNAH11):c.982+9C>T
|
rs1783446940
|
|
|
NM_001277115.2(DNAH11):c.982+9_982+10del
|
rs2534483656
|
|
|
NM_001277115.2(DNAH11):c.9822C>T (p.His3274=)
|
rs372433058
|
|
|
NM_001277115.2(DNAH11):c.9824A>G (p.Tyr3275Cys)
|
rs536938755
|
|
|
NM_001277115.2(DNAH11):c.9826T>G (p.Leu3276Val)
|
rs781418836
|
|
|
NM_001277115.2(DNAH11):c.983-12C>A
|
rs1225973380
|
|
|
NM_001277115.2(DNAH11):c.983-12C>G
|
rs1225973380
|
|
|
NM_001277115.2(DNAH11):c.983-15G>A
|
rs2534495139
|
|
|
NM_001277115.2(DNAH11):c.983-17T>G
|
rs752983904
|
|
|
NM_001277115.2(DNAH11):c.983-18dup
|
|
|
|
NM_001277115.2(DNAH11):c.983-8G>C
|
rs957256206
|
|
|
NM_001277115.2(DNAH11):c.983-9T>C
|
rs2534495179
|
|
|
NM_001277115.2(DNAH11):c.9856A>T (p.Ile3286Phe)
|
rs762245436
|
|
|
NM_001277115.2(DNAH11):c.9862A>T (p.Thr3288Ser)
|
rs1266689145
|
|
|
NM_001277115.2(DNAH11):c.9885C>T (p.Gly3295=)
|
|
|
|
NM_001277115.2(DNAH11):c.9892G>T (p.Ala3298Ser)
|
rs1409497106
|
|
|
NM_001277115.2(DNAH11):c.9894C>G (p.Ala3298=)
|
rs574242411
|
|
|
NM_001277115.2(DNAH11):c.9896G>C (p.Trp3299Ser)
|
rs758224118
|
|
|
NM_001277115.2(DNAH11):c.9898G>A (p.Val3300Ile)
|
rs1358264169
|
|
|
NM_001277115.2(DNAH11):c.9900C>A (p.Val3300=)
|
rs1445314227
|
|
|
NM_001277115.2(DNAH11):c.990C>G (p.Leu330=)
|
rs376448045
|
|
|
NM_001277115.2(DNAH11):c.9924+10C>T
|
rs2535263477
|
|
|
NM_001277115.2(DNAH11):c.9924+14A>G
|
rs556148129
|
|
|
NM_001277115.2(DNAH11):c.9924+1G>A
|
rs1554281038
|
|
|
NM_001277115.2(DNAH11):c.9924+2dup
|
|
|
|
NM_001277115.2(DNAH11):c.9924+7A>G
|
rs762368078
|
|
|
NM_001277115.2(DNAH11):c.9924+7A>T
|
rs762368078
|
|
|
NM_001277115.2(DNAH11):c.9924+9C>A
|
rs773437384
|
|
|
NM_001277115.2(DNAH11):c.9924+9C>T
|
rs773437384
|
|
|
NM_001277115.2(DNAH11):c.9925-10G>T
|
rs2535271977
|
|
|
NM_001277115.2(DNAH11):c.9925-12A>G
|
rs1323403335
|
|
|
NM_001277115.2(DNAH11):c.9925-17A>G
|
rs2535271955
|
|
|
NM_001277115.2(DNAH11):c.9925-17_9925-14del
|
rs763984520
|
|
|
NM_001277115.2(DNAH11):c.9926T>A (p.Val3309Asp)
|
rs2535272025
|
|
|
NM_001277115.2(DNAH11):c.9929A>G (p.Tyr3310Cys)
|
|
|
|
NM_001277115.2(DNAH11):c.9936T>C (p.Asp3312=)
|
|
|
|
NM_001277115.2(DNAH11):c.9949C>T (p.Arg3317Cys)
|
rs578184089
|
|
|
NM_001277115.2(DNAH11):c.9951C>T (p.Arg3317=)
|
rs2535272149
|
|
|
NM_001277115.2(DNAH11):c.996C>T (p.Ala332=)
|
|
|
|
NM_001277115.2(DNAH11):c.9972C>T (p.Asn3324=)
|
rs2535272244
|
|
|
NM_001277115.2(DNAH11):c.997C>A (p.Gln333Lys)
|
rs745761163
|
|
|
NM_001277115.2(DNAH11):c.9981G>A (p.Leu3327=)
|
rs1433184010
|
|
|
NM_001277115.2(DNAH11):c.9981G>C (p.Leu3327=)
|
rs1433184010
|
|
|
NM_001277115.2(DNAH11):c.9996A>G (p.Glu3332=)
|
rs2127988241
|
|
|
NM_001277115.2(DNAH11):c.999A>C (p.Gln333His)
|
rs769585740
|
|
|
NM_001277115.2(DNAH11):c.999A>G (p.Gln333=)
|
rs769585740
|
|
|
NM_001277115.2(DNAH11):c.99G>A (p.Val33=)
|
rs2534409355
|
|
|
NM_001277115.2(DNAH11):c.99_100del (p.Glu34fs)
|
rs2534409365
|
|
|
NM_001277115.2(DNAH11):c.9C>G (p.Ala3=)
|
rs2534408640
|
|
|
NM_001364171.2(ODAD1):c.1016A>C (p.Asn339Thr)
|
|
|
|
NM_001364171.2(ODAD1):c.1029G>A (p.Glu343=)
|
|
|
|
NM_001364171.2(ODAD1):c.1065C>T (p.Ile355=)
|
rs755602988
|
|
|
NM_001364171.2(ODAD1):c.1071+10G>C
|
rs755281213
|
|
|
NM_001364171.2(ODAD1):c.1071+12C>T
|
|
|
|
NM_001364171.2(ODAD1):c.1071+14G>A
|
|
|
|
NM_001364171.2(ODAD1):c.1072-7C>T
|
rs1600860434
|
|
|
NM_001364171.2(ODAD1):c.1088T>G (p.Val363Gly)
|
rs2515935478
|
|
|
NM_001364171.2(ODAD1):c.1100C>T (p.Ala367Val)
|
rs2147315341
|
|
|
NM_001364171.2(ODAD1):c.1128G>C (p.Gln376His)
|
rs746231311
|
|
|
NM_001364171.2(ODAD1):c.1145T>A (p.Val382Glu)
|
|
|
|
NM_001364171.2(ODAD1):c.1148T>C (p.Leu383Ser)
|
rs1968503578
|
|
|
NM_001364171.2(ODAD1):c.1171C>T (p.His391Tyr)
|
rs559542917
|
|
|
NM_001364171.2(ODAD1):c.1185G>A (p.Glu395=)
|
|
|
|
NM_001364171.2(ODAD1):c.1186C>G (p.Arg396Gly)
|
rs373501045
|
|
|
NM_001364171.2(ODAD1):c.1186C>T (p.Arg396Cys)
|
rs373501045
|
|
|
NM_001364171.2(ODAD1):c.1187G>T (p.Arg396Leu)
|
rs139618333
|
|
|
NM_001364171.2(ODAD1):c.119G>C (p.Gly40Ala)
|
rs2147337064
|
|
|
NM_001364171.2(ODAD1):c.120G>A (p.Gly40=)
|
rs1441510248
|
|
|
NM_001364171.2(ODAD1):c.122A>C (p.Glu41Ala)
|
rs2515959139
|
|
|
NM_001364171.2(ODAD1):c.1240+16C>T
|
|
|
|
NM_001364171.2(ODAD1):c.1240+8C>T
|
|
|
|
NM_001364171.2(ODAD1):c.1241-14C>T
|
rs2515927920
|
|
|
NM_001364171.2(ODAD1):c.1241-15C>G
|
rs369830434
|
|
|
NM_001364171.2(ODAD1):c.1256T>G (p.Phe419Cys)
|
rs2515927838
|
|
|
NM_001364171.2(ODAD1):c.1275C>G (p.Asp425Glu)
|
rs35930441
|
|
|
NM_001364171.2(ODAD1):c.1287C>T (p.Ile429=)
|
rs375942259
|
|
|
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.1322A>G (p.Asp441Gly)
|
rs2515927668
|
|
|
NM_001364171.2(ODAD1):c.1323C>T (p.Asp441=)
|
rs2515927663
|
|
|
NM_001364171.2(ODAD1):c.133del (p.Tyr45fs)
|
rs2147337039
|
|
|
NM_001364171.2(ODAD1):c.1360C>A (p.Arg454=)
|
rs199822195
|
|
|
NM_001364171.2(ODAD1):c.1362G>T (p.Arg454=)
|
|
|
|
NM_001364171.2(ODAD1):c.1367T>C (p.Val456Ala)
|
|
|
|
NM_001364171.2(ODAD1):c.138C>T (p.Ser46=)
|
rs1297703861
|
|
|
NM_001364171.2(ODAD1):c.1405-5_1405-4del
|
rs1968355957
|
|
|
NM_001364171.2(ODAD1):c.1416C>G (p.Ser472=)
|
rs1161698973
|
|
|
NM_001364171.2(ODAD1):c.1422C>T (p.Ala474=)
|
rs141720286
|
|
|
NM_001364171.2(ODAD1):c.1434C>G (p.Leu478=)
|
|
|
|
NM_001364171.2(ODAD1):c.1439T>C (p.Val480Ala)
|
|
|
|
NM_001364171.2(ODAD1):c.1473G>T (p.Lys491Asn)
|
rs978861683
|
|
|
NM_001364171.2(ODAD1):c.1475T>G (p.Met492Arg)
|
rs1555879279
|
|
|
NM_001364171.2(ODAD1):c.1480C>T (p.Pro494Ser)
|
rs771912701
|
|
|
NM_001364171.2(ODAD1):c.1489C>T (p.Pro497Ser)
|
rs2515926981
|
|
|
NM_001364171.2(ODAD1):c.1502+16G>T
|
|
|
|
NM_001364171.2(ODAD1):c.1502+17_1502+21del
|
|
|
|
NM_001364171.2(ODAD1):c.1503-16_1503-12dup
|
rs774634599
|
|
|
NM_001364171.2(ODAD1):c.1503-5C>T
|
|
|
|
NM_001364171.2(ODAD1):c.1509C>A (p.Asp503Glu)
|
rs1271012377
|
|
|
NM_001364171.2(ODAD1):c.150C>T (p.His50=)
|
rs2515959076
|
|
|
NM_001364171.2(ODAD1):c.1513_1514delinsTT (p.Pro505Leu)
|
rs2147308486
|
|
|
NM_001364171.2(ODAD1):c.1514dup (p.Phe507_Glu508insTer)
|
rs753915759
|
|
|
NM_001364171.2(ODAD1):c.1515G>C (p.Pro505=)
|
rs748491528
|
|
|
NM_001364171.2(ODAD1):c.1517dup (p.Phe507_Glu508insTer)
|
rs766394527
|
|
|
NM_001364171.2(ODAD1):c.1531G>A (p.Asp511Asn)
|
rs755370736
|
|
|
NM_001364171.2(ODAD1):c.1533T>C (p.Asp511=)
|
|
|
|
NM_001364171.2(ODAD1):c.1542del (p.Pro514_Met515insTer)
|
rs2515925621
|
|
|
NM_001364171.2(ODAD1):c.1579C>A (p.Leu527Met)
|
rs371854569
|
|
|
NM_001364171.2(ODAD1):c.1581+20G>C
|
rs1418690778
|
|
|
NM_001364171.2(ODAD1):c.1602G>A (p.Ala534=)
|
rs747363334
|
|
|
NM_001364171.2(ODAD1):c.1602G>C (p.Ala534=)
|
|
|
|
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[3] (p.Ala547del)
|
rs761748771
|
|
|
NM_001364171.2(ODAD1):c.1629CGC[5] (p.Ala547dup)
|
rs761748771
|
|
|
NM_001364171.2(ODAD1):c.1629CGC[6] (p.Ala546_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.1657C>T (p.Leu553=)
|
|
|
|
NM_001364171.2(ODAD1):c.1663G>A (p.Val555Met)
|
|
|
|
NM_001364171.2(ODAD1):c.1674C>T (p.Ala558=)
|
rs2515924785
|
|
|
NM_001364171.2(ODAD1):c.1702G>C (p.Val568Leu)
|
rs190964996
|
|
|
NM_001364171.2(ODAD1):c.1708G>A (p.Val570Met)
|
rs1968323305
|
|
|
NM_001364171.2(ODAD1):c.171-14C>T
|
|
|
|
NM_001364171.2(ODAD1):c.1716C>T (p.Thr572=)
|
|
|
|
NM_001364171.2(ODAD1):c.1727A>G (p.His576Arg)
|
rs1335478746
|
|
|
NM_001364171.2(ODAD1):c.1734C>T (p.Ile578=)
|
rs1394478466
|
|
|
NM_001364171.2(ODAD1):c.1779T>C (p.Ser593=)
|
|
|
|
NM_001364171.2(ODAD1):c.1783G>C (p.Gly595Arg)
|
rs2515924516
|
|
|
NM_001364171.2(ODAD1):c.182G>C (p.Arg61Pro)
|
rs759979512
|
|
|
NM_001364171.2(ODAD1):c.1842G>T (p.Thr614=)
|
rs368560284
|
|
|
NM_001364171.2(ODAD1):c.1848T>C (p.Gly616=)
|
|
|
|
NM_001364171.2(ODAD1):c.1880C>T (p.Ser627Phe)
|
rs1968314530
|
|
|
NM_001364171.2(ODAD1):c.1892C>T (p.Ser631Leu)
|
rs143219618
|
|
|
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.1970G>A (p.Arg657Lys)
|
rs1968309990
|
|
|
NM_001364171.2(ODAD1):c.1973G>A (p.Gly658Asp)
|
rs1380424120
|
|
|
NM_001364171.2(ODAD1):c.1973del (p.Gly658fs)
|
rs769187045
|
|
|
NM_001364171.2(ODAD1):c.1989G>T (p.Glu663Asp)
|
rs1600854444
|
|
|
NM_001364171.2(ODAD1):c.1995T>C (p.Gly665=)
|
|
|
|
NM_001364171.2(ODAD1):c.2004C>T (p.Ser668=)
|
rs181011260
|
|
|
NM_001364171.2(ODAD1):c.2011_2034del (p.Thr671_Gly678del)
|
rs776327192
|
|
|
NM_001364171.2(ODAD1):c.2013A>G (p.Thr671=)
|
|
|
|
NM_001364171.2(ODAD1):c.2025G>C (p.Ser675=)
|
rs1465123664
|
|
|
NM_001364171.2(ODAD1):c.2028C>A (p.Ser676Arg)
|
rs146521880
|
|
|
NM_001364171.2(ODAD1):c.2028C>T (p.Ser676=)
|
rs146521880
|
|
|
NM_001364171.2(ODAD1):c.2029_2046dup (p.Gly677_Ser682dup)
|
rs772407409
|
|
|
NM_001364171.2(ODAD1):c.2039G>A (p.Gly680Glu)
|
|
|
|
NM_001364171.2(ODAD1):c.2040G>A (p.Gly680=)
|
rs2515923546
|
|
|
NM_001364171.2(ODAD1):c.2044A>G (p.Ser682Gly)
|
rs2515923528
|
|
|
NM_001364171.2(ODAD1):c.204C>A (p.Gly68=)
|
rs1227970016
|
|
|
NM_001364171.2(ODAD1):c.204C>T (p.Gly68=)
|
|
|
|
NM_001364171.2(ODAD1):c.2055C>T (p.His685=)
|
|
|
|
NM_001364171.2(ODAD1):c.2067_2084dup (p.Ala692_Pro697dup)
|
rs755466284
|
|
|
NM_001364171.2(ODAD1):c.2070C>T (p.Gly690=)
|
rs878855210
|
|
|
NM_001364171.2(ODAD1):c.2073_2090del (p.Ala692_Pro697del)
|
rs1387748974
|
|
|
NM_001364171.2(ODAD1):c.2090C>T (p.Pro697Leu)
|
rs768598609
|
|
|
NM_001364171.2(ODAD1):c.2099_2102delinsACA (p.Ser700fs)
|
rs1569000186
|
|
|
NM_001364171.2(ODAD1):c.2105G>C (p.Ser702Thr)
|
rs2515923319
|
|
|
NM_001364171.2(ODAD1):c.210C>A (p.Leu70=)
|
|
|
|
NM_001364171.2(ODAD1):c.2121C>T (p.Gly707=)
|
rs1161641367
|
|
|
NM_001364171.2(ODAD1):c.253C>T (p.Arg85Trp)
|
rs746996781
|
|
|
NM_001364171.2(ODAD1):c.257A>G (p.Asp86Gly)
|
|
|
|
NM_001364171.2(ODAD1):c.266G>A (p.Arg89Gln)
|
rs58966182
|
|
|
NM_001364171.2(ODAD1):c.270G>A (p.Leu90=)
|
rs2147336558
|
|
|
NM_001364171.2(ODAD1):c.282C>A (p.Asp94Glu)
|
|
|
|
NM_001364171.2(ODAD1):c.284G>C (p.Arg95Pro)
|
rs1002779676
|
|
|
NM_001364171.2(ODAD1):c.285C>T (p.Arg95=)
|
rs2515958521
|
|
|
NM_001364171.2(ODAD1):c.286C>T (p.Leu96=)
|
|
|
|
NM_001364171.2(ODAD1):c.300G>A (p.Arg100=)
|
rs2515958488
|
|
|
NM_001364171.2(ODAD1):c.314C>A (p.Ala105Glu)
|
rs1402875362
|
|
|
NM_001364171.2(ODAD1):c.330G>T (p.Leu110=)
|
rs1600875570
|
|
|
NM_001364171.2(ODAD1):c.334G>A (p.Glu112Lys)
|
|
|
|
NM_001364171.2(ODAD1):c.338A>C (p.Gln113Pro)
|
rs1968956913
|
|
|
NM_001364171.2(ODAD1):c.346G>C (p.Ala116Pro)
|
rs1060500991
|
|
|
NM_001364171.2(ODAD1):c.361-16A>G
|
|
|
|
NM_001364171.2(ODAD1):c.361-7C>T
|
rs983906245
|
|
|
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.388A>G (p.Thr130Ala)
|
rs1968778540
|
|
|
NM_001364171.2(ODAD1):c.389C>T (p.Thr130Ile)
|
|
|
|
NM_001364171.2(ODAD1):c.395G>C (p.Ser132Thr)
|
rs1443442774
|
|
|
NM_001364171.2(ODAD1):c.398del (p.Lys133fs)
|
rs1421531868
|
|
|
NM_001364171.2(ODAD1):c.401A>G (p.Asn134Ser)
|
|
|
|
NM_001364171.2(ODAD1):c.405C>T (p.Val135=)
|
|
|
|
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.468A>G (p.Glu156=)
|
rs1213109136
|
|
|
NM_001364171.2(ODAD1):c.475T>C (p.Leu159=)
|
rs968591762
|
|
|
NM_001364171.2(ODAD1):c.483+15C>A
|
rs2515949990
|
|
|
NM_001364171.2(ODAD1):c.483+18G>C
|
|
|
|
NM_001364171.2(ODAD1):c.483+1G>A
|
rs2515950018
|
|
|
NM_001364171.2(ODAD1):c.484-20A>G
|
|
|
|
NM_001364171.2(ODAD1):c.497T>C (p.Phe166Ser)
|
rs2515949291
|
|
|
NM_001364171.2(ODAD1):c.498_499insCGT (p.Phe166_Asp167insArg)
|
rs779459076
|
|
|
NM_001364171.2(ODAD1):c.514C>G (p.Arg172Gly)
|
rs556570604
|
|
|
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.540G>C (p.Leu180=)
|
rs2515949170
|
|
|
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.629C>G (p.Thr210Ser)
|
rs1600864322
|
|
|
NM_001364171.2(ODAD1):c.634A>G (p.Ile212Val)
|
rs2515941985
|
|
|
NM_001364171.2(ODAD1):c.665+16A>G
|
rs2147320831
|
|
|
NM_001364171.2(ODAD1):c.666-15G>A
|
rs886038729
|
|
|
NM_001364171.2(ODAD1):c.666-5C>T
|
|
|
|
NM_001364171.2(ODAD1):c.666-7C>T
|
|
|
|
NM_001364171.2(ODAD1):c.696_697delinsTT (p.Arg233Trp)
|
rs1968544779
|
|
|
NM_001364171.2(ODAD1):c.716AGG[1] (p.Glu240del)
|
rs760854519
|
|
|
NM_001364171.2(ODAD1):c.721G>T (p.Ala241Ser)
|
rs1259985148
|
|
|
NM_001364171.2(ODAD1):c.746T>C (p.Val249Ala)
|
rs1192630734
|
|
|
NM_001364171.2(ODAD1):c.754C>T (p.Arg252Trp)
|
|
|
|
NM_001364171.2(ODAD1):c.782A>C (p.His261Pro)
|
|
|
|
NM_001364171.2(ODAD1):c.798C>T (p.Leu266=)
|
rs138256591
|
|
|
NM_001364171.2(ODAD1):c.806A>G (p.Asn269Ser)
|
rs2147317437
|
|
|
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.853+15G>A
|
rs2515938272
|
|
|
NM_001364171.2(ODAD1):c.855C>T (p.Ala285=)
|
|
|
|
NM_001364171.2(ODAD1):c.867C>G (p.Ala289=)
|
|
|
|
NM_001364171.2(ODAD1):c.874G>A (p.Val292Ile)
|
rs571330368
|
|
|
NM_001364171.2(ODAD1):c.915G>A (p.Glu305=)
|
rs2515937748
|
|
|
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.988+18T>G
|
rs753174748
|
|
|
NM_001364171.2(ODAD1):c.988+2T>C
|
rs2515937569
|
|
|
NM_001364171.2(ODAD1):c.989-29_989-16del
|
rs774487463
|
|
|
NM_001364171.2(ODAD1):c.989-4C>G
|
rs1256414652
|
|
|
NM_001364171.2(ODAD1):c.989-5C>A
|
rs1482785769
|
|
|
NM_001364171.2(ODAD1):c.989-8T>C
|
rs2515936161
|
|
|
NM_001364171.2(ODAD1):c.990C>T (p.Ile330=)
|
rs734498
|
|
|
NM_001364171.2(ODAD1):c.997C>T (p.Arg333Cys)
|
rs147626899
|
|
|
NM_001369.2(DNAH5):c.(?_-1)_(*1_?)del
|
|
|
|
NM_001369.2(DNAH5):c.(?_-1)_8448+?dup
|
|
|
|
NM_001369.2(DNAH5):c.278-?_438+?del
|
|
|
|
NM_001369.3(DNAH5):c.10002C>T (p.Val3334=)
|
rs2126762263
|
|
|
NM_001369.3(DNAH5):c.10025A>G (p.Glu3342Gly)
|
|
|
|
NM_001369.3(DNAH5):c.1002C>T (p.Ile334=)
|
rs1243397537
|
|
|
NM_001369.3(DNAH5):c.10038C>G (p.Thr3346=)
|
rs1415381787
|
|
|
NM_001369.3(DNAH5):c.10044C>G (p.Pro3348=)
|
rs369902800
|
|
|
NM_001369.3(DNAH5):c.10047C>T (p.Ser3349=)
|
rs2546648020
|
|
|
NM_001369.3(DNAH5):c.10051C>A (p.Gln3351Lys)
|
rs770720791
|
|
|
NM_001369.3(DNAH5):c.10051C>T (p.Gln3351Ter)
|
rs770720791
|
|
|
NM_001369.3(DNAH5):c.10059del (p.Ser3353_Leu3354insTer)
|
rs2546647978
|
|
|
NM_001369.3(DNAH5):c.10068G>A (p.Leu3356=)
|
rs769718739
|
|
|
NM_001369.3(DNAH5):c.10076C>T (p.Ala3359Val)
|
rs1752464443
|
|
|
NM_001369.3(DNAH5):c.10077A>G (p.Ala3359=)
|
rs1476482334
|
|
|
NM_001369.3(DNAH5):c.10077A>T (p.Ala3359=)
|
rs1476482334
|
|
|
NM_001369.3(DNAH5):c.1007A>T (p.Asp336Val)
|
|
|
|
NM_001369.3(DNAH5):c.10080del (p.Asn3361fs)
|
rs750785582
|
|
|
NM_001369.3(DNAH5):c.10083C>T (p.Asn3361=)
|
rs768437432
|
|
|
NM_001369.3(DNAH5):c.10087T>C (p.Leu3363=)
|
rs1752461463
|
|
|
NM_001369.3(DNAH5):c.10096T>C (p.Leu3366=)
|
rs1032546466
|
|
|
NM_001369.3(DNAH5):c.10101+11C>T
|
rs1202061373
|
|
|
NM_001369.3(DNAH5):c.10101+12A>G
|
rs758628126
|
|
|
NM_001369.3(DNAH5):c.10101+7A>C
|
rs1752459130
|
|
|
NM_001369.3(DNAH5):c.10101+7A>G
|
rs1752459130
|
|
|
NM_001369.3(DNAH5):c.10101+8G>A
|
rs1752458796
|
|
|
NM_001369.3(DNAH5):c.10102-10T>C
|
rs1307992178
|
|
|
NM_001369.3(DNAH5):c.10102-10T>G
|
rs1307992178
|
|
|
NM_001369.3(DNAH5):c.10102-15T>C
|
rs2546641310
|
|
|
NM_001369.3(DNAH5):c.10102-18T>C
|
rs2546641320
|
|
|
NM_001369.3(DNAH5):c.10102-22_10102-19del
|
rs765743955
|
|
|
NM_001369.3(DNAH5):c.10102-4A>G
|
rs2126746618
|
|
|
NM_001369.3(DNAH5):c.10102-5C>T
|
rs1318738786
|
|
|
NM_001369.3(DNAH5):c.10102-9C>G
|
rs762531071
|
|
|
NM_001369.3(DNAH5):c.10113dup (p.Asp3372fs)
|
rs2546641227
|
|
|
NM_001369.3(DNAH5):c.10117A>C (p.Thr3373Pro)
|
|
|
|
NM_001369.3(DNAH5):c.1011A>G (p.Ala337=)
|
rs2547137994
|
|
|
NM_001369.3(DNAH5):c.10122C>T (p.Ile3374=)
|
rs2546641189
|
|
|
NM_001369.3(DNAH5):c.10131G>A (p.Glu3377=)
|
rs2546641155
|
|
|
NM_001369.3(DNAH5):c.10134G>A (p.Val3378=)
|
rs761451180
|
|
|
NM_001369.3(DNAH5):c.1013C>G (p.Thr338Ser)
|
rs1390111024
|
|
|
NM_001369.3(DNAH5):c.1014T>A (p.Thr338=)
|
rs749523614
|
|
|
NM_001369.3(DNAH5):c.10152T>G (p.Pro3384=)
|
rs2546641064
|
|
|
NM_001369.3(DNAH5):c.10170C>T (p.Asp3390=)
|
rs2126746270
|
|
|
NM_001369.3(DNAH5):c.10179C>A (p.Ile3393=)
|
rs768597241
|
|
|
NM_001369.3(DNAH5):c.10190A>G (p.Lys3397Arg)
|
rs903568959
|
|
|
NM_001369.3(DNAH5):c.10191A>G (p.Lys3397=)
|
rs1250972452
|
|
|
NM_001369.3(DNAH5):c.10196dup (p.Cys3400fs)
|
rs1751967064
|
|
|
NM_001369.3(DNAH5):c.10197A>C (p.Val3399=)
|
rs756720477
|
|
|
NM_001369.3(DNAH5):c.10198T>C (p.Cys3400Arg)
|
rs2546640751
|
|
|
NM_001369.3(DNAH5):c.10206T>C (p.Asn3402=)
|
rs2126745918
|
|
|
NM_001369.3(DNAH5):c.10209A>G (p.Val3403=)
|
rs767967816
|
|
|
NM_001369.3(DNAH5):c.10218T>A (p.Leu3406=)
|
rs1368972106
|
|
|
NM_001369.3(DNAH5):c.10218T>C (p.Leu3406=)
|
|
|
|
NM_001369.3(DNAH5):c.10219_10233del (p.Cys3407_Lys3411del)
|
rs1751962280
|
|
|
NM_001369.3(DNAH5):c.10222del (p.Ser3408fs)
|
rs2546640593
|
|
|
NM_001369.3(DNAH5):c.10224C>T (p.Ser3408=)
|
rs1751963683
|
|
|
NM_001369.3(DNAH5):c.1022C>G (p.Ala341Gly)
|
|
|
|
NM_001369.3(DNAH5):c.1022C>T (p.Ala341Val)
|
rs1776738425
|
|
|
NM_001369.3(DNAH5):c.10254T>C (p.Ser3418=)
|
rs1282684944
|
|
|
NM_001369.3(DNAH5):c.10254_10255insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGCTTCCTTCTTTTCT (p.Ser3418_Ile3419insPhePhePhePhePhePheXaaXaaXaaXaaThrHisArgTrpGluLeuAsnAsnGluIleThrTrpThrGlnGluGlyGluTyrHisThrLeuGlyThrValAlaSerPhePheSer)
|
rs2546640421
|
|
|
NM_001369.3(DNAH5):c.10257A>C (p.Ile3419=)
|
rs2546640384
|
|
|
NM_001369.3(DNAH5):c.10269A>G (p.Val3423=)
|
rs1751956438
|
|
|
NM_001369.3(DNAH5):c.1026G>A (p.Lys342=)
|
rs2151986801
|
|
|
NM_001369.3(DNAH5):c.10270C>T (p.Leu3424=)
|
rs2546640317
|
|
|
NM_001369.3(DNAH5):c.1027G>A (p.Asp343Asn)
|
|
|
|
NM_001369.3(DNAH5):c.10280del (p.Lys3427fs)
|
rs2126745441
|
|
|
NM_001369.3(DNAH5):c.10281+10C>G
|
rs2546640189
|
|
|
NM_001369.3(DNAH5):c.10282-15G>A
|
rs2546631345
|
|
|
NM_001369.3(DNAH5):c.10282-17G>A
|
rs1443230971
|
|
|
NM_001369.3(DNAH5):c.10282-17GT[3]
|
rs2126728447
|
|
|
NM_001369.3(DNAH5):c.10282-18T>G
|
rs1008062057
|
|
|
NM_001369.3(DNAH5):c.10282-7T>G
|
rs1751412635
|
|
|
NM_001369.3(DNAH5):c.10282-8C>T
|
rs1315633907
|
|
|
NM_001369.3(DNAH5):c.10284C>T (p.Ala3428=)
|
rs900356629
|
|
|
NM_001369.3(DNAH5):c.10286A>G (p.Asn3429Ser)
|
rs1580095416
|
|
|
NM_001369.3(DNAH5):c.10288T>C (p.Leu3430=)
|
rs1356696172
|
|
|
NM_001369.3(DNAH5):c.10296G>A (p.Val3432=)
|
rs1353093059
|
|
|
NM_001369.3(DNAH5):c.1029C>T (p.Asp343=)
|
rs2547137919
|
|
|
NM_001369.3(DNAH5):c.10301A>G (p.Glu3434Gly)
|
rs1751407075
|
|
|
NM_001369.3(DNAH5):c.1032T>C (p.Asn344=)
|
|
|
|
NM_001369.3(DNAH5):c.10341C>T (p.Ala3447=)
|
rs2126728035
|
|
|
NM_001369.3(DNAH5):c.10344G>A (p.Gln3448=)
|
rs2126727987
|
|
|
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.1035G>A (p.Val345=)
|
rs150335023
|
|
|
NM_001369.3(DNAH5):c.1035G>T (p.Val345=)
|
rs150335023
|
|
|
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.10381G>A (p.Val3461Met)
|
rs770152494
|
|
|
NM_001369.3(DNAH5):c.1038A>G (p.Lys346=)
|
rs2547137886
|
|
|
NM_001369.3(DNAH5):c.10399C>T (p.Gln3467Ter)
|
rs772481807
|
|
|
NM_001369.3(DNAH5):c.10399_10400del (p.Gln3467fs)
|
rs2546630731
|
|
|
NM_001369.3(DNAH5):c.10405A>G (p.Met3469Val)
|
rs755793521
|
|
|
NM_001369.3(DNAH5):c.10419+14G>C
|
rs1751377263
|
|
|
NM_001369.3(DNAH5):c.10419+14G>T
|
rs1751377263
|
|
|
NM_001369.3(DNAH5):c.10419+7G>T
|
rs2126727429
|
|
|
NM_001369.3(DNAH5):c.1041C>T (p.Tyr347=)
|
rs2151986754
|
|
|
NM_001369.3(DNAH5):c.10420-18G>T
|
rs771330498
|
|
|
NM_001369.3(DNAH5):c.10420-1G>A
|
rs2546618925
|
|
|
NM_001369.3(DNAH5):c.10420-2A>G
|
rs2546618928
|
|
|
NM_001369.3(DNAH5):c.10420-3T>C
|
rs1172050367
|
|
|
NM_001369.3(DNAH5):c.10420-5G>A
|
rs754497052
|
|
|
NM_001369.3(DNAH5):c.10420-6del
|
rs2546618946
|
|
|
NM_001369.3(DNAH5):c.10420-9C>G
|
rs2126706818
|
|
|
NM_001369.3(DNAH5):c.10422C>T (p.Thr3474=)
|
rs2546618911
|
|
|
NM_001369.3(DNAH5):c.10428T>C (p.Leu3476=)
|
rs2126706709
|
|
|
NM_001369.3(DNAH5):c.1042T>C (p.Leu348=)
|
rs2547137869
|
|
|
NM_001369.3(DNAH5):c.10436C>A (p.Ala3479Glu)
|
rs2546618849
|
|
|
NM_001369.3(DNAH5):c.10437A>C (p.Ala3479=)
|
|
|
|
NM_001369.3(DNAH5):c.10437A>T (p.Ala3479=)
|
rs139881808
|
|
|
NM_001369.3(DNAH5):c.10440G>A (p.Glu3480=)
|
rs1485742988
|
|
|
NM_001369.3(DNAH5):c.10442G>A (p.Arg3481Gln)
|
rs202169624
|
|
|
NM_001369.3(DNAH5):c.10443A>T (p.Arg3481=)
|
rs1554035381
|
|
|
NM_001369.3(DNAH5):c.1044G>A (p.Leu348=)
|
rs2151986750
|
|
|
NM_001369.3(DNAH5):c.10452C>T (p.His3484=)
|
rs760753312
|
|
|
NM_001369.3(DNAH5):c.10452_10464del (p.His3484fs)
|
rs1580072662
|
|
|
NM_001369.3(DNAH5):c.10452del (p.His3484fs)
|
|
|
|
NM_001369.3(DNAH5):c.1045T>C (p.Tyr349His)
|
rs2547137855
|
|
|
NM_001369.3(DNAH5):c.10464A>G (p.Thr3488=)
|
rs2126706410
|
|
|
NM_001369.3(DNAH5):c.10467T>C (p.Ala3489=)
|
rs2546618708
|
|
|
NM_001369.3(DNAH5):c.10470C>T (p.Ser3490=)
|
rs1750680564
|
|
|
NM_001369.3(DNAH5):c.10473G>T (p.Thr3491=)
|
rs2401809
|
|
|
NM_001369.3(DNAH5):c.10473dup (p.Leu3492fs)
|
|
|
|
NM_001369.3(DNAH5):c.10476C>T (p.Leu3492=)
|
rs2546618657
|
|
|
NM_001369.3(DNAH5):c.1047T>A (p.Tyr349Ter)
|
rs1776735394
|
|
|
NM_001369.3(DNAH5):c.10482T>C (p.Ser3494=)
|
rs2126706314
|
|
|
NM_001369.3(DNAH5):c.10485C>T (p.Gly3495=)
|
rs2126706302
|
|
|
NM_001369.3(DNAH5):c.10504del (p.Arg3502fs)
|
rs1554035330
|
|
|
NM_001369.3(DNAH5):c.10508G>A (p.Trp3503Ter)
|
rs777987305
|
|
|
NM_001369.3(DNAH5):c.1050A>G (p.Thr350=)
|
rs2151986716
|
|
|
NM_001369.3(DNAH5):c.1050A>T (p.Thr350=)
|
rs2151986716
|
|
|
NM_001369.3(DNAH5):c.10515G>A (p.Glu3505=)
|
rs1298277398
|
|
|
NM_001369.3(DNAH5):c.10522C>T (p.Gln3508Ter)
|
rs1750671525
|
|
|
NM_001369.3(DNAH5):c.10526_10527del (p.Glu3509fs)
|
|
|
|
NM_001369.3(DNAH5):c.10533T>A (p.Ala3511=)
|
rs2126705939
|
|
|
NM_001369.3(DNAH5):c.10545A>G (p.Lys3515=)
|
rs727502972
|
|
|
NM_001369.3(DNAH5):c.10555+14T>A
|
rs1355630850
|
|
|
NM_001369.3(DNAH5):c.10555+16T>A
|
rs1270994941
|
|
|
NM_001369.3(DNAH5):c.10555+17A>G
|
|
|
|
NM_001369.3(DNAH5):c.10555+7A>T
|
rs2126705752
|
|
|
NM_001369.3(DNAH5):c.10555+9A>G
|
rs2126705731
|
|
|
NM_001369.3(DNAH5):c.10555G>C (p.Gly3519Arg)
|
rs79967166
|
|
|
NM_001369.3(DNAH5):c.10556-14G>A
|
rs2126702410
|
|
|
NM_001369.3(DNAH5):c.10556-18G>C
|
rs781451232
|
|
|
NM_001369.3(DNAH5):c.10556-1G>A
|
rs751641706
|
|
|
NM_001369.3(DNAH5):c.10556-8T>A
|
rs2126702377
|
|
|
NM_001369.3(DNAH5):c.10556-9C>G
|
rs1750562118
|
|
|
NM_001369.3(DNAH5):c.10557G>A (p.Gly3519=)
|
rs2126702324
|
|
|
NM_001369.3(DNAH5):c.10558G>T (p.Asp3520Tyr)
|
rs766829989
|
|
|
NM_001369.3(DNAH5):c.10559A>T (p.Asp3520Val)
|
rs2546615913
|
|
|
NM_001369.3(DNAH5):c.10563A>G (p.Val3521=)
|
rs2546615891
|
|
|
NM_001369.3(DNAH5):c.10564C>T (p.Leu3522=)
|
rs750988827
|
|
|
NM_001369.3(DNAH5):c.10565T>G (p.Leu3522Arg)
|
rs2546615879
|
|
|
NM_001369.3(DNAH5):c.10572T>C (p.Ala3524=)
|
rs2546615860
|
|
|
NM_001369.3(DNAH5):c.10578T>C (p.Ala3526=)
|
rs1201926393
|
|
|
NM_001369.3(DNAH5):c.10581T>C (p.Phe3527=)
|
rs539286465
|
|
|
NM_001369.3(DNAH5):c.10582C>T (p.Leu3528=)
|
rs2546615792
|
|
|
NM_001369.3(DNAH5):c.10586C>G (p.Ser3529Cys)
|
|
|
|
NM_001369.3(DNAH5):c.10590T>A (p.Tyr3530Ter)
|
|
|
|
NM_001369.3(DNAH5):c.10590T>C (p.Tyr3530=)
|
rs774032957
|
|
|
NM_001369.3(DNAH5):c.10595G>A (p.Gly3532Asp)
|
|
|
|
NM_001369.3(DNAH5):c.105G>A (p.Ala35=)
|
rs753457503
|
|
|
NM_001369.3(DNAH5):c.10604_10608dup (p.Glu3537fs)
|
rs1380450190
|
|
|
NM_001369.3(DNAH5):c.10605C>T (p.Asn3535=)
|
|
|
|
NM_001369.3(DNAH5):c.10616G>C (p.Arg3539Pro)
|
rs769458738
|
|
|
NM_001369.3(DNAH5):c.10619A>C (p.Asp3540Ala)
|
rs1580068395
|
|
|
NM_001369.3(DNAH5):c.10626G>A (p.Leu3542=)
|
rs1376078058
|
|
|
NM_001369.3(DNAH5):c.10634A>T (p.Asp3545Val)
|
rs2546615500
|
|
|
NM_001369.3(DNAH5):c.10639C>G (p.Arg3547Gly)
|
rs747041428
|
|
|
NM_001369.3(DNAH5):c.10656C>A (p.Ala3552=)
|
rs757642030
|
|
|
NM_001369.3(DNAH5):c.10659G>C (p.Arg3553=)
|
rs1750538537
|
|
|
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.10681C>G (p.Leu3561Val)
|
rs1750534633
|
|
|
NM_001369.3(DNAH5):c.10690A>C (p.Ser3564Arg)
|
rs2126701456
|
|
|
NM_001369.3(DNAH5):c.10703T>C (p.Ile3568Thr)
|
rs1255772979
|
|
|
NM_001369.3(DNAH5):c.10706A>G (p.Asp3569Gly)
|
rs772964691
|
|
|
NM_001369.3(DNAH5):c.10707T>C (p.Asp3569=)
|
rs2126701355
|
|
|
NM_001369.3(DNAH5):c.10710T>A (p.Ala3570=)
|
rs2546615172
|
|
|
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.10713T>C (p.Pro3571=)
|
rs769775818
|
|
|
NM_001369.3(DNAH5):c.10719del (p.Ser3574fs)
|
rs765980788
|
|
|
NM_001369.3(DNAH5):c.1071T>A (p.Pro357=)
|
rs2547137768
|
|
|
NM_001369.3(DNAH5):c.10735C>T (p.Gln3579Ter)
|
rs2546615030
|
|
|
NM_001369.3(DNAH5):c.10740T>A (p.Gly3580=)
|
rs2126701155
|
|
|
NM_001369.3(DNAH5):c.10743G>T (p.Leu3581=)
|
rs2126701138
|
|
|
NM_001369.3(DNAH5):c.10752T>C (p.Asp3584=)
|
rs1048347626
|
|
|
NM_001369.3(DNAH5):c.10755C>T (p.Asp3585=)
|
rs2546614944
|
|
|
NM_001369.3(DNAH5):c.10761C>A (p.Ser3587=)
|
rs1156933558
|
|
|
NM_001369.3(DNAH5):c.10761C>T (p.Ser3587=)
|
rs1156933558
|
|
|
NM_001369.3(DNAH5):c.10764T>C (p.Ile3588=)
|
rs1260916379
|
|
|
NM_001369.3(DNAH5):c.10767A>G (p.Gln3589=)
|
|
|
|
NM_001369.3(DNAH5):c.10770T>C (p.Asn3590=)
|
rs371679974
|
|
|
NM_001369.3(DNAH5):c.10773A>G (p.Gly3591=)
|
rs1255675070
|
|
|
NM_001369.3(DNAH5):c.10774A>G (p.Ile3592Val)
|
|
|
|
NM_001369.3(DNAH5):c.10779T>C (p.Ile3593=)
|
rs2126700875
|
|
|
NM_001369.3(DNAH5):c.1077C>T (p.Tyr359=)
|
rs780411639
|
|
|
NM_001369.3(DNAH5):c.10784C>A (p.Thr3595Lys)
|
rs886043929
|
|
|
NM_001369.3(DNAH5):c.10785G>C (p.Thr3595=)
|
rs144055129
|
|
|
NM_001369.3(DNAH5):c.10789G>C (p.Ala3597Pro)
|
rs368959723
|
|
|
NM_001369.3(DNAH5):c.10800C>T (p.Tyr3600=)
|
rs756610363
|
|
|
NM_001369.3(DNAH5):c.10806G>A (p.Leu3602=)
|
rs751153837
|
|
|
NM_001369.3(DNAH5):c.10818A>G (p.Pro3606=)
|
rs2546614645
|
|
|
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.10839G>C (p.Trp3613Cys)
|
rs1750508726
|
|
|
NM_001369.3(DNAH5):c.10848T>A (p.Asn3616Lys)
|
|
|
|
NM_001369.3(DNAH5):c.10848T>C (p.Asn3616=)
|
rs371211976
|
|
|
NM_001369.3(DNAH5):c.10853_10856del (p.Glu3618fs)
|
rs1353723750
|
|
|
NM_001369.3(DNAH5):c.10858C>A (p.Arg3620=)
|
rs1283070426
|
|
|
NM_001369.3(DNAH5):c.10858C>T (p.Arg3620Ter)
|
rs1283070426
|
|
|
NM_001369.3(DNAH5):c.10859G>T (p.Arg3620Leu)
|
rs547014532
|
|
|
NM_001369.3(DNAH5):c.10861A>T (p.Asn3621Tyr)
|
|
|
|
NM_001369.3(DNAH5):c.10870C>T (p.Gln3624Ter)
|
rs1295167678
|
|
|
NM_001369.3(DNAH5):c.10872+14T>C
|
rs772347310
|
|
|
NM_001369.3(DNAH5):c.10872+15A>G
|
rs528801757
|
|
|
NM_001369.3(DNAH5):c.10872+15A>T
|
rs528801757
|
|
|
NM_001369.3(DNAH5):c.10872+19T>C
|
rs1390184580
|
|
|
NM_001369.3(DNAH5):c.10872+1G>A
|
rs2126700213
|
|
|
NM_001369.3(DNAH5):c.10872+7T>A
|
rs1580066973
|
|
|
NM_001369.3(DNAH5):c.10872+8_10872+13del
|
rs1750499401
|
|
|
NM_001369.3(DNAH5):c.10872+9T>G
|
rs1580066952
|
|
|
NM_001369.3(DNAH5):c.10873-15T>C
|
rs760324133
|
|
|
NM_001369.3(DNAH5):c.10873-8G>T
|
rs775390566
|
|
|
NM_001369.3(DNAH5):c.10873-9T>C
|
rs2126695522
|
|
|
NM_001369.3(DNAH5):c.10875C>T (p.Ile3625=)
|
rs772138612
|
|
|
NM_001369.3(DNAH5):c.10886A>C (p.Asn3629Thr)
|
rs2126695378
|
|
|
NM_001369.3(DNAH5):c.10888C>T (p.His3630Tyr)
|
rs1750346300
|
|
|
NM_001369.3(DNAH5):c.1089+10G>A
|
rs2151986613
|
|
|
NM_001369.3(DNAH5):c.1089+13T>C
|
rs1776729613
|
|
|
NM_001369.3(DNAH5):c.1089+18A>C
|
rs752192934
|
|
|
NM_001369.3(DNAH5):c.1089+20T>C
|
rs2547137676
|
|
|
NM_001369.3(DNAH5):c.108G>A (p.Arg36=)
|
rs1227915144
|
|
|
NM_001369.3(DNAH5):c.1090-2A>C
|
rs2547135442
|
|
|
NM_001369.3(DNAH5):c.1090-6T>C
|
rs886060015
|
|
|
NM_001369.3(DNAH5):c.1090-7C>A
|
rs2547135457
|
|
|
NM_001369.3(DNAH5):c.1090-8T>A
|
rs16902950
|
|
|
NM_001369.3(DNAH5):c.1090-8T>C
|
rs16902950
|
|
|
NM_001369.3(DNAH5):c.1090-9A>G
|
rs531634191
|
|
|
NM_001369.3(DNAH5):c.1090-9_1090-8del
|
rs2547135472
|
|
|
NM_001369.3(DNAH5):c.10900A>T (p.Arg3634Ter)
|
rs1204076551
|
|
|
NM_001369.3(DNAH5):c.10910T>A (p.Leu3637Gln)
|
rs1750341802
|
|
|
NM_001369.3(DNAH5):c.1092A>C (p.Leu364=)
|
rs759149687
|
|
|
NM_001369.3(DNAH5):c.10930G>T (p.Gly3644Ter)
|
rs1750339039
|
|
|
NM_001369.3(DNAH5):c.10935G>T (p.Arg3645Ser)
|
rs369107938
|
|
|
NM_001369.3(DNAH5):c.10938T>G (p.Pro3646=)
|
rs2546611772
|
|
|
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.10952del (p.Asp3651fs)
|
rs2546611714
|
|
|
NM_001369.3(DNAH5):c.10963G>T (p.Glu3655Ter)
|
rs2546611663
|
|
|
NM_001369.3(DNAH5):c.10973C>T (p.Pro3658Leu)
|
rs2546611634
|
|
|
NM_001369.3(DNAH5):c.10977A>G (p.Ala3659=)
|
rs2126694781
|
|
|
NM_001369.3(DNAH5):c.10978C>T (p.Leu3660=)
|
rs1409148907
|
|
|
NM_001369.3(DNAH5):c.10983T>C (p.Asp3661=)
|
rs886059971
|
|
|
NM_001369.3(DNAH5):c.10996A>T (p.Arg3666Ter)
|
rs2546611536
|
|
|
NM_001369.3(DNAH5):c.10998A>G (p.Arg3666=)
|
rs2546611527
|
|
|
NM_001369.3(DNAH5):c.11015G>A (p.Gly3672Glu)
|
rs2546611477
|
|
|
NM_001369.3(DNAH5):c.11016G>T (p.Gly3672=)
|
rs1580060938
|
|
|
NM_001369.3(DNAH5):c.11026A>T (p.Lys3676Ter)
|
rs1750322897
|
|
|
NM_001369.3(DNAH5):c.11028+11C>A
|
rs2546611326
|
|
|
NM_001369.3(DNAH5):c.11028+12C>G
|
rs769811401
|
|
|
NM_001369.3(DNAH5):c.11028+12C>T
|
rs769811401
|
|
|
NM_001369.3(DNAH5):c.11028+1G>C
|
rs2126694391
|
|
|
NM_001369.3(DNAH5):c.11028+1del
|
rs2546611390
|
|
|
NM_001369.3(DNAH5):c.11028+2T>C
|
rs773447251
|
|
|
NM_001369.3(DNAH5):c.11028+5G>A
|
rs1419129615
|
|
|
NM_001369.3(DNAH5):c.11028+8A>T
|
rs2546611336
|
|
|
NM_001369.3(DNAH5):c.11029-10T>C
|
rs2546608846
|
|
|
NM_001369.3(DNAH5):c.11029-10dup
|
rs2546608852
|
|
|
NM_001369.3(DNAH5):c.11029-20A>C
|
rs1202925846
|
|
|
NM_001369.3(DNAH5):c.11029-8T>C
|
rs2126690241
|
|
|
NM_001369.3(DNAH5):c.11029-9A>G
|
rs763245439
|
|
|
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.1104T>C (p.Asp368=)
|
rs751526276
|
|
|
NM_001369.3(DNAH5):c.11057T>A (p.Val3686Glu)
|
rs1750176019
|
|
|
NM_001369.3(DNAH5):c.11057T>C (p.Val3686Ala)
|
rs1750176019
|
|
|
NM_001369.3(DNAH5):c.11058G>C (p.Val3686=)
|
rs1372654063
|
|
|
NM_001369.3(DNAH5):c.11058G>T (p.Val3686=)
|
rs1372654063
|
|
|
NM_001369.3(DNAH5):c.1105G>A (p.Ala369Thr)
|
rs762809871
|
|
|
NM_001369.3(DNAH5):c.11063A>G (p.Asp3688Gly)
|
rs878854454
|
|
|
NM_001369.3(DNAH5):c.11064T>C (p.Asp3688=)
|
rs2546608688
|
|
|
NM_001369.3(DNAH5):c.1106C>G (p.Ala369Gly)
|
|
|
|
NM_001369.3(DNAH5):c.11070T>C (p.Phe3690=)
|
rs2126689884
|
|
|
NM_001369.3(DNAH5):c.11070del (p.Phe3690fs)
|
rs1750171365
|
|
|
NM_001369.3(DNAH5):c.11071A>C (p.Arg3691=)
|
rs2546608631
|
|
|
NM_001369.3(DNAH5):c.11073A>G (p.Arg3691=)
|
rs2126689848
|
|
|
NM_001369.3(DNAH5):c.11078A>G (p.Tyr3693Cys)
|
rs747614788
|
|
|
NM_001369.3(DNAH5):c.11079C>T (p.Tyr3693=)
|
rs2126689772
|
|
|
NM_001369.3(DNAH5):c.11088C>G (p.Thr3696=)
|
rs754892386
|
|
|
NM_001369.3(DNAH5):c.11092T>C (p.Leu3698=)
|
rs1489390120
|
|
|
NM_001369.3(DNAH5):c.11094G>A (p.Leu3698=)
|
rs2126689664
|
|
|
NM_001369.3(DNAH5):c.11102C>A (p.Pro3701Gln)
|
|
|
|
NM_001369.3(DNAH5):c.11108A>G (p.Tyr3703Cys)
|
|
|
|
NM_001369.3(DNAH5):c.11114del (p.Pro3705fs)
|
rs2546608447
|
|
|
NM_001369.3(DNAH5):c.11127C>T (p.Ala3709=)
|
rs758334720
|
|
|
NM_001369.3(DNAH5):c.11127_11128del (p.Arg3710fs)
|
rs768492048
|
|
|
NM_001369.3(DNAH5):c.11133C>G (p.Thr3711=)
|
rs2546608301
|
|
|
NM_001369.3(DNAH5):c.1113T>C (p.Pro371=)
|
rs2547135305
|
|
|
NM_001369.3(DNAH5):c.11167C>G (p.Leu3723Val)
|
rs2126689104
|
|
|
NM_001369.3(DNAH5):c.11168T>A (p.Leu3723Gln)
|
rs1554033862
|
|
|
NM_001369.3(DNAH5):c.11169A>G (p.Leu3723=)
|
rs1341634539
|
|
|
NM_001369.3(DNAH5):c.11187G>C (p.Gly3729=)
|
|
|
|
NM_001369.3(DNAH5):c.11198T>C (p.Leu3733Pro)
|
rs2546608031
|
|
|
NM_001369.3(DNAH5):c.11211+10G>A
|
rs1561171849
|
|
|
NM_001369.3(DNAH5):c.11211+15G>A
|
rs2546607865
|
|
|
NM_001369.3(DNAH5):c.11211+15G>C
|
rs2546607865
|
|
|
NM_001369.3(DNAH5):c.11211+19C>A
|
rs2546607837
|
|
|
NM_001369.3(DNAH5):c.11211+1G>A
|
rs1554033855
|
|
|
NM_001369.3(DNAH5):c.11211+2T>C
|
rs2546607933
|
|
|
NM_001369.3(DNAH5):c.11211+4A>T
|
rs2546607913
|
|
|
NM_001369.3(DNAH5):c.11212-12G>T
|
rs2546570091
|
|
|
NM_001369.3(DNAH5):c.11212-4A>G
|
rs1554028140
|
|
|
NM_001369.3(DNAH5):c.11212-6T>C
|
rs1391603456
|
|
|
NM_001369.3(DNAH5):c.11212-6T>G
|
rs1391603456
|
|
|
NM_001369.3(DNAH5):c.11214A>G (p.Glu3738=)
|
rs2546570054
|
|
|
NM_001369.3(DNAH5):c.11227A>G (p.Arg3743Gly)
|
rs1747695059
|
|
|
NM_001369.3(DNAH5):c.11229A>G (p.Arg3743=)
|
rs2546570002
|
|
|
NM_001369.3(DNAH5):c.11246A>T (p.Asp3749Val)
|
rs34447134
|
|
|
NM_001369.3(DNAH5):c.11256A>G (p.Ala3752=)
|
rs1747688046
|
|
|
NM_001369.3(DNAH5):c.11259C>T (p.Asn3753=)
|
rs1747687638
|
|
|
NM_001369.3(DNAH5):c.11263A>T (p.Arg3755Ter)
|
rs1747686698
|
|
|
NM_001369.3(DNAH5):c.11268G>A (p.Arg3756=)
|
rs2546569820
|
|
|
NM_001369.3(DNAH5):c.11277A>G (p.Glu3759=)
|
rs2126621365
|
|
|
NM_001369.3(DNAH5):c.11280A>G (p.Leu3760=)
|
rs772169912
|
|
|
NM_001369.3(DNAH5):c.11292G>A (p.Leu3764=)
|
rs1435603022
|
|
|
NM_001369.3(DNAH5):c.11295T>C (p.Leu3765=)
|
rs2546569689
|
|
|
NM_001369.3(DNAH5):c.11297A>G (p.Tyr3766Cys)
|
rs2546569679
|
|
|
NM_001369.3(DNAH5):c.11300G>T (p.Arg3767Leu)
|
rs138838869
|
|
|
NM_001369.3(DNAH5):c.11304G>A (p.Leu3768=)
|
rs1747678804
|
|
|
NM_001369.3(DNAH5):c.11305A>G (p.Thr3769Ala)
|
rs1747678431
|
|
|
NM_001369.3(DNAH5):c.11308A>G (p.Ser3770Gly)
|
rs1747677646
|
|
|
NM_001369.3(DNAH5):c.11308_11315del (p.Ser3770fs)
|
rs1579980919
|
|
|
NM_001369.3(DNAH5):c.11313_11314insGCCTGA (p.Gln3772delinsAlaTer)
|
rs2126621004
|
|
|
NM_001369.3(DNAH5):c.11315A>T (p.Gln3772Leu)
|
rs2546569527
|
|
|
NM_001369.3(DNAH5):c.11317_11318insTACCGCCTGACAA (p.Gly3773fs)
|
rs2126620903
|
|
|
NM_001369.3(DNAH5):c.11319G>T (p.Gly3773=)
|
rs1002731861
|
|
|
NM_001369.3(DNAH5):c.11334T>C (p.Asp3778=)
|
rs1356606713
|
|
|
NM_001369.3(DNAH5):c.11349C>A (p.Val3783=)
|
rs774415631
|
|
|
NM_001369.3(DNAH5):c.11350G>A (p.Val3784Met)
|
rs375636304
|
|
|
NM_001369.3(DNAH5):c.11350G>T (p.Val3784Leu)
|
rs375636304
|
|
|
NM_001369.3(DNAH5):c.11357G>C (p.Ser3786Thr)
|
rs777928542
|
|
|
NM_001369.3(DNAH5):c.11358T>C (p.Ser3786=)
|
rs2126620518
|
|
|
NM_001369.3(DNAH5):c.11379G>A (p.Glu3793=)
|
rs2546569144
|
|
|
NM_001369.3(DNAH5):c.11389C>T (p.Gln3797Ter)
|
rs1467939954
|
|
|
NM_001369.3(DNAH5):c.11394G>A (p.Lys3798=)
|
rs2546569061
|
|
|
NM_001369.3(DNAH5):c.11415A>G (p.Thr3805=)
|
rs1332328322
|
|
|
NM_001369.3(DNAH5):c.11416_11417del (p.Glu3806fs)
|
rs2126619946
|
|
|
NM_001369.3(DNAH5):c.1141_1147delinsACAGAGATGTGATCTTCTCAGAGGTATTATAGTAATGAGAGATACT (p.Tyr381_Ile383delinsThrGluMetTer)
|
rs2547135179
|
|
|
NM_001369.3(DNAH5):c.11421del (p.Gln3808fs)
|
rs2126619895
|
|
|
NM_001369.3(DNAH5):c.11425dup (p.Ile3809fs)
|
rs2546568932
|
|
|
NM_001369.3(DNAH5):c.11433A>C (p.Ser3811=)
|
rs2126619793
|
|
|
NM_001369.3(DNAH5):c.11433A>G (p.Ser3811=)
|
rs2126619793
|
|
|
NM_001369.3(DNAH5):c.11436C>T (p.Ala3812=)
|
rs750689328
|
|
|
NM_001369.3(DNAH5):c.11436_11437delinsAA (p.Ala3812_Arg3813=)
|
rs2126619709
|
|
|
NM_001369.3(DNAH5):c.1143T>C (p.Tyr381=)
|
|
|
|
NM_001369.3(DNAH5):c.11448C>T (p.Tyr3816=)
|
rs2126619576
|
|
|
NM_001369.3(DNAH5):c.11448_11449insT (p.Arg3817Ter)
|
|
|
|
NM_001369.3(DNAH5):c.1144_1145insT (p.Ser382fs)
|
rs1164515588
|
|
|
NM_001369.3(DNAH5):c.11455+10del
|
rs1747631215
|
|
|
NM_001369.3(DNAH5):c.11455+11T>C
|
rs2546568679
|
|
|
NM_001369.3(DNAH5):c.11455+14T>C
|
rs2546568673
|
|
|
NM_001369.3(DNAH5):c.11455+15G>T
|
rs1747630405
|
|
|
NM_001369.3(DNAH5):c.11455+1G>C
|
|
|
|
NM_001369.3(DNAH5):c.11455+1G>T
|
rs2546568726
|
|
|
NM_001369.3(DNAH5):c.11456-20C>T
|
rs1361265949
|
|
|
NM_001369.3(DNAH5):c.11456-7C>T
|
rs2546564339
|
|
|
NM_001369.3(DNAH5):c.11456-9G>A
|
rs2126611325
|
|
|
NM_001369.3(DNAH5):c.11459del (p.Ala3820fs)
|
rs2546564284
|
|
|
NM_001369.3(DNAH5):c.11462C>G (p.Thr3821Arg)
|
rs374858945
|
|
|
NM_001369.3(DNAH5):c.11478C>G (p.Leu3826=)
|
rs780655764
|
|
|
NM_001369.3(DNAH5):c.11481C>T (p.Tyr3827=)
|
rs2126611126
|
|
|
NM_001369.3(DNAH5):c.11487C>G (p.Leu3829=)
|
rs2546564175
|
|
|
NM_001369.3(DNAH5):c.11500C>T (p.Arg3834Cys)
|
rs1579972564
|
|
|
NM_001369.3(DNAH5):c.11500_11512del (p.Leu3835fs)
|
rs2126610936
|
|
|
NM_001369.3(DNAH5):c.11526T>A (p.Thr3842=)
|
rs1342928348
|
|
|
NM_001369.3(DNAH5):c.11534G>T (p.Arg3845Leu)
|
rs1181350575
|
|
|
NM_001369.3(DNAH5):c.11536C>T (p.Gln3846Ter)
|
rs1443845070
|
|
|
NM_001369.3(DNAH5):c.11546G>A (p.Gly3849Asp)
|
rs1747323389
|
|
|
NM_001369.3(DNAH5):c.11547C>A (p.Gly3849=)
|
rs772181765
|
|
|
NM_001369.3(DNAH5):c.11547C>T (p.Gly3849=)
|
rs772181765
|
|
|
NM_001369.3(DNAH5):c.11550A>G (p.Leu3850=)
|
rs2546563908
|
|
|
NM_001369.3(DNAH5):c.11557C>A (p.Leu3853Ile)
|
rs1222348393
|
|
|
NM_001369.3(DNAH5):c.11570+12C>T
|
rs536584175
|
|
|
NM_001369.3(DNAH5):c.11570+14C>A
|
rs757835503
|
|
|
NM_001369.3(DNAH5):c.11570+2T>C
|
rs2126610509
|
|
|
NM_001369.3(DNAH5):c.11570+6_11570+8dup
|
rs2126610451
|
|
|
NM_001369.3(DNAH5):c.11570+7C>T
|
rs1747318374
|
|
|
NM_001369.3(DNAH5):c.11570+7_11570+10dup
|
rs2546563713
|
|
|
NM_001369.3(DNAH5):c.11570+9G>T
|
rs1206430080
|
|
|
NM_001369.3(DNAH5):c.11571-1G>A
|
rs1481337703
|
|
|
NM_001369.3(DNAH5):c.11585C>G (p.Pro3862Arg)
|
rs763954304
|
|
|
NM_001369.3(DNAH5):c.11586G>C (p.Pro3862=)
|
rs755874851
|
|
|
NM_001369.3(DNAH5):c.11586G>T (p.Pro3862=)
|
rs755874851
|
|
|
NM_001369.3(DNAH5):c.11598G>A (p.Lys3866=)
|
rs1747223092
|
|
|
NM_001369.3(DNAH5):c.11609del (p.Asn3870fs)
|
rs2546561591
|
|
|
NM_001369.3(DNAH5):c.11610T>C (p.Asn3870=)
|
rs2126607616
|
|
|
NM_001369.3(DNAH5):c.11611_11612del (p.Ile3871fs)
|
rs2546561572
|
|
|
NM_001369.3(DNAH5):c.11616C>A (p.Ile3872=)
|
rs773699669
|
|
|
NM_001369.3(DNAH5):c.11616C>T (p.Ile3872=)
|
rs773699669
|
|
|
NM_001369.3(DNAH5):c.11617G>A (p.Glu3873Lys)
|
rs770233429
|
|
|
NM_001369.3(DNAH5):c.11622C>T (p.His3874=)
|
rs2126607471
|
|
|
NM_001369.3(DNAH5):c.11623A>G (p.Met3875Val)
|
rs1044439678
|
|
|
NM_001369.3(DNAH5):c.11634G>A (p.Glu3878=)
|
rs2126607339
|
|
|
NM_001369.3(DNAH5):c.11638del (p.Tyr3880fs)
|
rs2546561323
|
|
|
NM_001369.3(DNAH5):c.11648C>T (p.Ala3883Val)
|
rs2546561247
|
|
|
NM_001369.3(DNAH5):c.11658G>T (p.Gly3886=)
|
rs1183924577
|
|
|
NM_001369.3(DNAH5):c.11658_11668del (p.Leu3887fs)
|
rs2126607061
|
|
|
NM_001369.3(DNAH5):c.11661G>A (p.Leu3887=)
|
rs1561136752
|
|
|
NM_001369.3(DNAH5):c.11670G>A (p.Glu3890=)
|
rs1209894286
|
|
|
NM_001369.3(DNAH5):c.11676_11680dup (p.Leu3894fs)
|
rs2546561012
|
|
|
NM_001369.3(DNAH5):c.1167_1168insGTGA (p.Ser390fs)
|
rs2547135070
|
|
|
NM_001369.3(DNAH5):c.11681T>G (p.Leu3894Arg)
|
rs766711089
|
|
|
NM_001369.3(DNAH5):c.11685C>T (p.Phe3895=)
|
rs149892711
|
|
|
NM_001369.3(DNAH5):c.11692T>C (p.Leu3898=)
|
rs2546560967
|
|
|
NM_001369.3(DNAH5):c.11715C>T (p.Ile3905=)
|
rs2126606748
|
|
|
NM_001369.3(DNAH5):c.11725C>T (p.Arg3909Ter)
|
rs1060501464
|
|
|
NM_001369.3(DNAH5):c.11726G>A (p.Arg3909Gln)
|
rs761043906
|
|
|
NM_001369.3(DNAH5):c.11739A>C (p.Glu3913Asp)
|
rs748787177
|
|
|
NM_001369.3(DNAH5):c.11739A>G (p.Glu3913=)
|
rs748787177
|
|
|
NM_001369.3(DNAH5):c.11744T>C (p.Phe3915Ser)
|
rs2546560741
|
|
|
NM_001369.3(DNAH5):c.11753T>C (p.Leu3918Pro)
|
rs2126606502
|
|
|
NM_001369.3(DNAH5):c.11756T>C (p.Ile3919Thr)
|
|
|
|
NM_001369.3(DNAH5):c.11761+2T>A
|
rs2126606448
|
|
|
NM_001369.3(DNAH5):c.11761G>C (p.Gly3921Arg)
|
rs2126606457
|
|
|
NM_001369.3(DNAH5):c.11762-17A>C
|
rs2546547541
|
|
|
NM_001369.3(DNAH5):c.11762-20T>C
|
rs746071988
|
|
|
NM_001369.3(DNAH5):c.1176G>A (p.Lys392=)
|
rs992976251
|
|
|
NM_001369.3(DNAH5):c.1176G>C (p.Lys392Asn)
|
rs992976251
|
|
|
NM_001369.3(DNAH5):c.11772A>C (p.Ser3924=)
|
rs764541822
|
|
|
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.11803T>C (p.Ser3935Pro)
|
rs145685491
|
|
|
NM_001369.3(DNAH5):c.11804C>A (p.Ser3935Ter)
|
rs1579942510
|
|
|
NM_001369.3(DNAH5):c.11805A>G (p.Ser3935=)
|
rs1746208138
|
|
|
NM_001369.3(DNAH5):c.11810G>A (p.Trp3937Ter)
|
rs527387894
|
|
|
NM_001369.3(DNAH5):c.11815C>T (p.Leu3939=)
|
rs764968328
|
|
|
NM_001369.3(DNAH5):c.11820C>T (p.Asp3940=)
|
rs1439414354
|
|
|
NM_001369.3(DNAH5):c.11820_11821insTTAT (p.Ile3941fs)
|
rs2546547153
|
|
|
NM_001369.3(DNAH5):c.1182A>T (p.Thr394=)
|
rs1580874077
|
|
|
NM_001369.3(DNAH5):c.11840del (p.Val3947fs)
|
rs2546547058
|
|
|
NM_001369.3(DNAH5):c.11847T>C (p.Leu3949=)
|
rs2546547025
|
|
|
NM_001369.3(DNAH5):c.11850C>T (p.Ser3950=)
|
rs778951473
|
|
|
NM_001369.3(DNAH5):c.11853del (p.Lys3951fs)
|
rs1579942226
|
|
|
NM_001369.3(DNAH5):c.11857dup (p.Arg3953fs)
|
rs2546546999
|
|
|
NM_001369.3(DNAH5):c.11859A>G (p.Arg3953=)
|
rs1746201027
|
|
|
NM_001369.3(DNAH5):c.11860_11870del (p.Gln3954fs)
|
rs2546546922
|
|
|
NM_001369.3(DNAH5):c.11861A>G (p.Gln3954Arg)
|
|
|
|
NM_001369.3(DNAH5):c.11870A>G (p.Asp3957Gly)
|
rs2546546915
|
|
|
NM_001369.3(DNAH5):c.11871T>C (p.Asp3957=)
|
rs2546546911
|
|
|
NM_001369.3(DNAH5):c.11872G>A (p.Val3958Ile)
|
|
|
|
NM_001369.3(DNAH5):c.11874C>T (p.Val3958=)
|
rs2546546901
|
|
|
NM_001369.3(DNAH5):c.11877T>G (p.Leu3959=)
|
rs756257947
|
|
|
NM_001369.3(DNAH5):c.11883+14G>C
|
rs2546546803
|
|
|
NM_001369.3(DNAH5):c.11883+16A>G
|
rs2546546785
|
|
|
NM_001369.3(DNAH5):c.11883+3A>G
|
|
|
|
NM_001369.3(DNAH5):c.11883+7G>C
|
rs2546546846
|
|
|
NM_001369.3(DNAH5):c.11884-10G>T
|
rs2546542343
|
|
|
NM_001369.3(DNAH5):c.11884-12T>C
|
rs1468686663
|
|
|
NM_001369.3(DNAH5):c.11884-18dup
|
rs1177204319
|
|
|
NM_001369.3(DNAH5):c.11884-1G>C
|
rs2546542315
|
|
|
NM_001369.3(DNAH5):c.11884-6T>C
|
rs769811671
|
|
|
NM_001369.3(DNAH5):c.11889G>A (p.Ser3963=)
|
|
|
|
NM_001369.3(DNAH5):c.11895T>C (p.Asn3965=)
|
rs2546542231
|
|
|
NM_001369.3(DNAH5):c.11895_11901del (p.Asn3965fs)
|
rs1745933925
|
|
|
NM_001369.3(DNAH5):c.11898G>A (p.Glu3966=)
|
rs2126564900
|
|
|
NM_001369.3(DNAH5):c.11907G>A (p.Trp3969Ter)
|
rs1561122898
|
|
|
NM_001369.3(DNAH5):c.11913T>C (p.Ile3971=)
|
rs147531607
|
|
|
NM_001369.3(DNAH5):c.11922T>C (p.Asp3974=)
|
rs2546542112
|
|
|
NM_001369.3(DNAH5):c.11923A>T (p.Lys3975Ter)
|
rs2546542097
|
|
|
NM_001369.3(DNAH5):c.11925G>A (p.Lys3975=)
|
rs2126564748
|
|
|
NM_001369.3(DNAH5):c.11931C>T (p.Asn3977=)
|
rs1745930999
|
|
|
NM_001369.3(DNAH5):c.11935dup (p.Glu3979fs)
|
rs2126564662
|
|
|
NM_001369.3(DNAH5):c.11938G>A (p.Glu3980Lys)
|
rs1221618846
|
|
|
NM_001369.3(DNAH5):c.11941G>T (p.Glu3981Ter)
|
rs1745928643
|
|
|
NM_001369.3(DNAH5):c.11942A>C (p.Glu3981Ala)
|
|
|
|
NM_001369.3(DNAH5):c.1194A>C (p.Val398=)
|
rs2547134931
|
|
|
NM_001369.3(DNAH5):c.11952A>G (p.Pro3984=)
|
rs774208223
|
|
|
NM_001369.3(DNAH5):c.11958C>T (p.Ala3986=)
|
rs2126564466
|
|
|
NM_001369.3(DNAH5):c.11961T>C (p.Tyr3987=)
|
rs2546541866
|
|
|
NM_001369.3(DNAH5):c.1197+13T>A
|
rs2547134870
|
|
|
NM_001369.3(DNAH5):c.1197+20T>A
|
rs1776638708
|
|
|
NM_001369.3(DNAH5):c.1197+8C>A
|
rs2151985253
|
|
|
NM_001369.3(DNAH5):c.11970T>C (p.Ser3990=)
|
rs2546541826
|
|
|
NM_001369.3(DNAH5):c.11970del (p.Asp3992fs)
|
rs778289775
|
|
|
NM_001369.3(DNAH5):c.1198-13T>G
|
rs2547129902
|
|
|
NM_001369.3(DNAH5):c.1198-1G>A
|
rs2547129868
|
|
|
NM_001369.3(DNAH5):c.1198-4C>T
|
rs750382999
|
|
|
NM_001369.3(DNAH5):c.1198-5C>T
|
rs2151982382
|
|
|
NM_001369.3(DNAH5):c.1198-8A>T
|
rs1580867586
|
|
|
NM_001369.3(DNAH5):c.11987G>T (p.Arg3996Leu)
|
|
|
|
NM_001369.3(DNAH5):c.11994C>T (p.Leu3998=)
|
rs1241523462
|
|
|
NM_001369.3(DNAH5):c.11997T>A (p.Leu3999=)
|
rs939150721
|
|
|
NM_001369.3(DNAH5):c.119T>G (p.Leu40Ter)
|
|
|
|
NM_001369.3(DNAH5):c.12002G>T (p.Arg4001Ile)
|
rs1290080477
|
|
|
NM_001369.3(DNAH5):c.12004T>A (p.Ser4002Thr)
|
rs2546541666
|
|
|
NM_001369.3(DNAH5):c.12024C>A (p.Thr4008=)
|
rs1245749140
|
|
|
NM_001369.3(DNAH5):c.12028G>A (p.Ala4010Thr)
|
rs758777667
|
|
|
NM_001369.3(DNAH5):c.12030C>T (p.Ala4010=)
|
rs2126563946
|
|
|
NM_001369.3(DNAH5):c.12031dup (p.Gln4011fs)
|
rs2546541555
|
|
|
NM_001369.3(DNAH5):c.12033+1G>A
|
rs2126563913
|
|
|
NM_001369.3(DNAH5):c.12033+5A>T
|
|
|
|
NM_001369.3(DNAH5):c.12033+7A>C
|
rs77541151
|
|
|
NM_001369.3(DNAH5):c.12033+7A>G
|
rs77541151
|
|
|
NM_001369.3(DNAH5):c.12033+7del
|
rs1554023321
|
|
|
NM_001369.3(DNAH5):c.12034-10T>A
|
rs2546526210
|
|
|
NM_001369.3(DNAH5):c.12034-10dup
|
rs1179640167
|
|
|
NM_001369.3(DNAH5):c.12034-11G>A
|
|
|
|
NM_001369.3(DNAH5):c.12034-19del
|
rs762582845
|
|
|
NM_001369.3(DNAH5):c.12034-6del
|
rs1179640167
|
|
|
NM_001369.3(DNAH5):c.12034-7T>C
|
|
|
|
NM_001369.3(DNAH5):c.1203A>C (p.Thr401=)
|
rs2151982352
|
|
|
NM_001369.3(DNAH5):c.12041A>G (p.Lys4014Arg)
|
rs2126531698
|
|
|
NM_001369.3(DNAH5):c.12044A>C (p.Tyr4015Ser)
|
rs1060501463
|
|
|
NM_001369.3(DNAH5):c.12046A>C (p.Ile4016Leu)
|
rs144287016
|
|
|
NM_001369.3(DNAH5):c.12057C>T (p.Ser4019=)
|
rs2126531557
|
|
|
NM_001369.3(DNAH5):c.12059T>C (p.Met4020Thr)
|
rs758311625
|
|
|
NM_001369.3(DNAH5):c.1206T>G (p.Asn402Lys)
|
rs140782270
|
|
|
NM_001369.3(DNAH5):c.12071A>C (p.Tyr4024Ser)
|
rs1389508391
|
|
|
NM_001369.3(DNAH5):c.12072T>C (p.Tyr4024=)
|
rs1375859408
|
|
|
NM_001369.3(DNAH5):c.12081T>A (p.Gly4027=)
|
rs2126531375
|
|
|
NM_001369.3(DNAH5):c.1208del (p.Gln403fs)
|
|
|
|
NM_001369.3(DNAH5):c.12105G>T (p.Thr4035=)
|
rs199735129
|
|
|
NM_001369.3(DNAH5):c.12109G>T (p.Glu4037Ter)
|
rs775060022
|
|
|
NM_001369.3(DNAH5):c.12114A>G (p.Glu4038=)
|
rs749640233
|
|
|
NM_001369.3(DNAH5):c.12114_12127del (p.Glu4038fs)
|
|
|
|
NM_001369.3(DNAH5):c.12123A>G (p.Pro4041=)
|
rs149580135
|
|
|
NM_001369.3(DNAH5):c.12135C>T (p.Leu4045=)
|
rs1248105443
|
|
|
NM_001369.3(DNAH5):c.12136A>G (p.Ile4046Val)
|
rs1380434730
|
|
|
NM_001369.3(DNAH5):c.12168A>C (p.Thr4056=)
|
|
|
|
NM_001369.3(DNAH5):c.1216T>G (p.Ser406Ala)
|
rs1776422779
|
|
|
NM_001369.3(DNAH5):c.12172T>C (p.Ser4058Pro)
|
rs1194500326
|
|
|
NM_001369.3(DNAH5):c.12184T>C (p.Leu4062=)
|
|
|
|
NM_001369.3(DNAH5):c.12197T>C (p.Leu4066Ser)
|
rs1744991255
|
|
|
NM_001369.3(DNAH5):c.12198_12203delinsCAAAAAAA (p.Leu4066fs)
|
rs2546525299
|
|
|
NM_001369.3(DNAH5):c.12201A>G (p.Lys4067=)
|
rs1744990917
|
|
|
NM_001369.3(DNAH5):c.12205G>T (p.Glu4069Ter)
|
rs2546525282
|
|
|
NM_001369.3(DNAH5):c.12206A>T (p.Glu4069Val)
|
rs770252526
|
|
|
NM_001369.3(DNAH5):c.12212_12213insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAATAGAAACCCG (p.Arg4071_Tyr4072insProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerGlyXaaXaaXaaLysLysLysLysLysLysLysLysIleGluThrArg)
|
rs2546525239
|
|
|
NM_001369.3(DNAH5):c.12216T>C (p.Tyr4072=)
|
rs1744989045
|
|
|
NM_001369.3(DNAH5):c.12220del (p.Ser4074fs)
|
rs1744988064
|
|
|
NM_001369.3(DNAH5):c.12224del (p.Met4075fs)
|
rs1744987309
|
|
|
NM_001369.3(DNAH5):c.12230A>G (p.Gln4077Arg)
|
rs925178133
|
|
|
NM_001369.3(DNAH5):c.12238G>T (p.Glu4080Ter)
|
rs142761474
|
|
|
NM_001369.3(DNAH5):c.12239A>T (p.Glu4080Val)
|
|
|
|
NM_001369.3(DNAH5):c.12241G>A (p.Val4081Ile)
|
rs756038618
|
|
|
NM_001369.3(DNAH5):c.12248C>A (p.Ala4083Asp)
|
rs1201132518
|
|
|
NM_001369.3(DNAH5):c.12249T>C (p.Ala4083=)
|
rs1744982412
|
|
|
NM_001369.3(DNAH5):c.12249T>G (p.Ala4083=)
|
|
|
|
NM_001369.3(DNAH5):c.12251G>T (p.Arg4084Leu)
|
rs140832239
|
|
|
NM_001369.3(DNAH5):c.12262C>T (p.Gln4088Ter)
|
rs1245106080
|
|
|
NM_001369.3(DNAH5):c.12267G>A (p.Gln4089=)
|
rs150973524
|
|
|
NM_001369.3(DNAH5):c.12270C>T (p.Thr4090=)
|
rs2546524682
|
|
|
NM_001369.3(DNAH5):c.12276G>C (p.Ala4092=)
|
rs763359823
|
|
|
NM_001369.3(DNAH5):c.12279+13A>G
|
rs775076498
|
|
|
NM_001369.3(DNAH5):c.12279+6G>C
|
rs762179184
|
|
|
NM_001369.3(DNAH5):c.12279+6G>T
|
|
|
|
NM_001369.3(DNAH5):c.12279+9G>A
|
rs1579905639
|
|
|
NM_001369.3(DNAH5):c.12280-1G>A
|
rs2546519097
|
|
|
NM_001369.3(DNAH5):c.12280-4A>G
|
rs1561106680
|
|
|
NM_001369.3(DNAH5):c.12280-8A>G
|
rs926704938
|
|
|
NM_001369.3(DNAH5):c.12285A>G (p.Gly4095=)
|
rs774115728
|
|
|
NM_001369.3(DNAH5):c.12286T>C (p.Trp4096Arg)
|
|
|
|
NM_001369.3(DNAH5):c.12287G>A (p.Trp4096Ter)
|
rs1744699899
|
|
|
NM_001369.3(DNAH5):c.12297G>C (p.Leu4099=)
|
|
|
|
NM_001369.3(DNAH5):c.1230C>A (p.Ala410=)
|
rs1449339755
|
|
|
NM_001369.3(DNAH5):c.12326T>C (p.Met4109Thr)
|
rs1744695650
|
|
|
NM_001369.3(DNAH5):c.12330del (p.Asp4110fs)
|
|
|
|
NM_001369.3(DNAH5):c.12334C>T (p.Leu4112=)
|
rs2126519033
|
|
|
NM_001369.3(DNAH5):c.12336G>C (p.Leu4112=)
|
rs2126519017
|
|
|
NM_001369.3(DNAH5):c.1233T>C (p.Tyr411=)
|
rs1776419912
|
|
|
NM_001369.3(DNAH5):c.12342C>T (p.Asp4114=)
|
rs980881291
|
|
|
NM_001369.3(DNAH5):c.12345A>C (p.Ile4115=)
|
rs2546518659
|
|
|
NM_001369.3(DNAH5):c.1234A>G (p.Ile412Val)
|
rs1580867247
|
|
|
NM_001369.3(DNAH5):c.12353A>G (p.Glu4118Gly)
|
rs1744691263
|
|
|
NM_001369.3(DNAH5):c.12355A>G (p.Thr4119Ala)
|
rs2546518605
|
|
|
NM_001369.3(DNAH5):c.12373G>C (p.Ala4125Pro)
|
rs757737381
|
|
|
NM_001369.3(DNAH5):c.12375G>C (p.Ala4125=)
|
rs140284455
|
|
|
NM_001369.3(DNAH5):c.12378C>T (p.Phe4126=)
|
rs760658244
|
|
|
NM_001369.3(DNAH5):c.12379C>A (p.Arg4127Ser)
|
rs148696723
|
|
|
NM_001369.3(DNAH5):c.12379C>T (p.Arg4127Cys)
|
rs148696723
|
|
|
NM_001369.3(DNAH5):c.12381C>T (p.Arg4127=)
|
rs2546518406
|
|
|
NM_001369.3(DNAH5):c.12384C>T (p.Leu4128=)
|
rs772828833
|
|
|
NM_001369.3(DNAH5):c.12391dup (p.Thr4131fs)
|
rs2546518336
|
|
|
NM_001369.3(DNAH5):c.12396C>G (p.Thr4132=)
|
rs776715085
|
|
|
NM_001369.3(DNAH5):c.12397G>T (p.Glu4133Ter)
|
rs376372961
|
|
|
NM_001369.3(DNAH5):c.12401_12402delinsTC (p.Ala4134Val)
|
rs2546518203
|
|
|
NM_001369.3(DNAH5):c.12402T>G (p.Ala4134=)
|
rs1327666188
|
|
|
NM_001369.3(DNAH5):c.12405T>C (p.His4135=)
|
|
|
|
NM_001369.3(DNAH5):c.12409C>T (p.Gln4137Ter)
|
rs192894455
|
|
|
NM_001369.3(DNAH5):c.12414T>A (p.Phe4138Leu)
|
rs754273700
|
|
|
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.1241A>G (p.Asn414Ser)
|
rs536355248
|
|
|
NM_001369.3(DNAH5):c.1241A>T (p.Asn414Ile)
|
rs536355248
|
|
|
NM_001369.3(DNAH5):c.12460C>T (p.Pro4154Ser)
|
|
|
|
NM_001369.3(DNAH5):c.12462A>T (p.Pro4154=)
|
rs768671455
|
|
|
NM_001369.3(DNAH5):c.12467_12468delinsAC (p.Gly4156Asp)
|
|
|
|
NM_001369.3(DNAH5):c.12468A>T (p.Gly4156=)
|
rs30169
|
|
|
NM_001369.3(DNAH5):c.12480A>T (p.Gly4160=)
|
rs2546517341
|
|
|
NM_001369.3(DNAH5):c.12492A>G (p.Thr4164=)
|
rs141935657
|
|
|
NM_001369.3(DNAH5):c.12495T>A (p.Tyr4165Ter)
|
rs373536906
|
|
|
NM_001369.3(DNAH5):c.12495T>C (p.Tyr4165=)
|
rs373536906
|
|
|
NM_001369.3(DNAH5):c.12495T>G (p.Tyr4165Ter)
|
rs373536906
|
|
|
NM_001369.3(DNAH5):c.12499+11_12499+23del
|
rs2546517057
|
|
|
NM_001369.3(DNAH5):c.12499+12A>C
|
rs2546517121
|
|
|
NM_001369.3(DNAH5):c.12499+1G>A
|
rs1579894454
|
|
|
NM_001369.3(DNAH5):c.12499+2T>G
|
rs1484826593
|
|
|
NM_001369.3(DNAH5):c.12499+7C>A
|
rs2126517434
|
|
|
NM_001369.3(DNAH5):c.12499+8C>T
|
rs2546517139
|
|
|
NM_001369.3(DNAH5):c.12500-1G>A
|
rs1744470051
|
|
|
NM_001369.3(DNAH5):c.12500-20C>T
|
rs1317314672
|
|
|
NM_001369.3(DNAH5):c.12500-2A>G
|
rs2546512953
|
|
|
NM_001369.3(DNAH5):c.12500-8C>T
|
rs2126510108
|
|
|
NM_001369.3(DNAH5):c.12501T>C (p.Gly4167=)
|
rs2546512931
|
|
|
NM_001369.3(DNAH5):c.12510del (p.Asp4171fs)
|
rs2546512880
|
|
|
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.12513C>T (p.Asp4171=)
|
rs547445590
|
|
|
NM_001369.3(DNAH5):c.12519G>A (p.Leu4173=)
|
rs2126509949
|
|
|
NM_001369.3(DNAH5):c.12521A>G (p.Asp4174Gly)
|
rs1554020311
|
|
|
NM_001369.3(DNAH5):c.12542G>A (p.Trp4181Ter)
|
|
|
|
NM_001369.3(DNAH5):c.12549C>A (p.Pro4183=)
|
rs2126509690
|
|
|
NM_001369.3(DNAH5):c.12555G>A (p.Leu4185=)
|
rs992629268
|
|
|
NM_001369.3(DNAH5):c.12557A>G (p.Tyr4186Cys)
|
rs368413636
|
|
|
NM_001369.3(DNAH5):c.12559G>A (p.Ala4187Thr)
|
rs141993196
|
|
|
NM_001369.3(DNAH5):c.1255del (p.Ser419fs)
|
rs2547129637
|
|
|
NM_001369.3(DNAH5):c.12561A>C (p.Ala4187=)
|
rs763160068
|
|
|
NM_001369.3(DNAH5):c.1256C>A (p.Ser419Tyr)
|
rs150010518
|
|
|
NM_001369.3(DNAH5):c.12572T>C (p.Leu4191Pro)
|
rs1312032248
|
|
|
NM_001369.3(DNAH5):c.12573G>T (p.Leu4191=)
|
rs1744456187
|
|
|
NM_001369.3(DNAH5):c.12576C>T (p.His4192=)
|
rs2546512530
|
|
|
NM_001369.3(DNAH5):c.1257C>T (p.Ser419=)
|
rs2151982228
|
|
|
NM_001369.3(DNAH5):c.12586C>T (p.Gln4196Ter)
|
rs886059965
|
|
|
NM_001369.3(DNAH5):c.12587A>G (p.Gln4196Arg)
|
rs2546512469
|
|
|
NM_001369.3(DNAH5):c.12591G>A (p.Glu4197=)
|
rs2126509239
|
|
|
NM_001369.3(DNAH5):c.12599dup (p.Phe4201fs)
|
rs1554020233
|
|
|
NM_001369.3(DNAH5):c.12600G>A (p.Lys4200=)
|
rs1744451695
|
|
|
NM_001369.3(DNAH5):c.12601T>C (p.Phe4201Leu)
|
rs2546512398
|
|
|
NM_001369.3(DNAH5):c.12609C>T (p.Ala4203=)
|
rs2546512351
|
|
|
NM_001369.3(DNAH5):c.12614G>T (p.Gly4205Val)
|
rs79185772
|
|
|
NM_001369.3(DNAH5):c.12615G>T (p.Gly4205=)
|
rs755597752
|
|
|
NM_001369.3(DNAH5):c.12627C>T (p.Pro4209=)
|
rs370958379
|
|
|
NM_001369.3(DNAH5):c.12630C>A (p.Tyr4210Ter)
|
rs766099303
|
|
|
NM_001369.3(DNAH5):c.12631G>T (p.Glu4211Ter)
|
rs762673561
|
|
|
NM_001369.3(DNAH5):c.12633A>G (p.Glu4211=)
|
|
|
|
NM_001369.3(DNAH5):c.12654T>C (p.Asn4218=)
|
rs2546512184
|
|
|
NM_001369.3(DNAH5):c.12656C>G (p.Ala4219Gly)
|
|
|
|
NM_001369.3(DNAH5):c.12660T>C (p.Thr4220=)
|
rs2126508689
|
|
|
NM_001369.3(DNAH5):c.12664C>T (p.Gln4222Ter)
|
rs2126508639
|
|
|
NM_001369.3(DNAH5):c.12673C>T (p.Gln4225Ter)
|
rs1390701361
|
|
|
NM_001369.3(DNAH5):c.12696T>C (p.Asp4232=)
|
|
|
|
NM_001369.3(DNAH5):c.12705+11G>A
|
rs765130526
|
|
|
NM_001369.3(DNAH5):c.12705+11G>T
|
rs765130526
|
|
|
NM_001369.3(DNAH5):c.12705+13A>G
|
rs754177491
|
|
|
NM_001369.3(DNAH5):c.12705+15G>C
|
rs921893160
|
|
|
NM_001369.3(DNAH5):c.12705+1G>A
|
rs779993876
|
|
|
NM_001369.3(DNAH5):c.12705+1G>T
|
rs779993876
|
|
|
NM_001369.3(DNAH5):c.12705+20C>T
|
rs760850770
|
|
|
NM_001369.3(DNAH5):c.12705+7C>T
|
rs2126508365
|
|
|
NM_001369.3(DNAH5):c.12706-11A>C
|
rs1359172536
|
|
|
NM_001369.3(DNAH5):c.12706-14A>C
|
|
|
|
NM_001369.3(DNAH5):c.12708_12709inv (p.Val4237Ile)
|
|
|
|
NM_001369.3(DNAH5):c.12709G>A (p.Val4237Ile)
|
rs138045391
|
|
|
NM_001369.3(DNAH5):c.12709G>T (p.Val4237Phe)
|
rs138045391
|
|
|
NM_001369.3(DNAH5):c.12716G>A (p.Trp4239Ter)
|
rs1744320103
|
|
|
NM_001369.3(DNAH5):c.12720C>T (p.Thr4240=)
|
rs756222017
|
|
|
NM_001369.3(DNAH5):c.12738A>C (p.Ile4246=)
|
rs763332586
|
|
|
NM_001369.3(DNAH5):c.1275G>A (p.Gln425=)
|
rs867090374
|
|
|
NM_001369.3(DNAH5):c.12762_12763del (p.Arg4254fs)
|
rs1579881985
|
|
|
NM_001369.3(DNAH5):c.12765C>T (p.Val4255=)
|
rs561983296
|
|
|
NM_001369.3(DNAH5):c.12765del (p.Thr4256fs)
|
rs2546509212
|
|
|
NM_001369.3(DNAH5):c.12774C>T (p.Asp4258=)
|
rs199639743
|
|
|
NM_001369.3(DNAH5):c.12778_12780del (p.Asp4260del)
|
rs2546509113
|
|
|
NM_001369.3(DNAH5):c.12779A>G (p.Asp4260Gly)
|
|
|
|
NM_001369.3(DNAH5):c.12779A>T (p.Asp4260Val)
|
rs1744309029
|
|
|
NM_001369.3(DNAH5):c.12783G>A (p.Lys4261=)
|
rs1157680216
|
|
|
NM_001369.3(DNAH5):c.12785G>A (p.Arg4262Lys)
|
rs1744308032
|
|
|
NM_001369.3(DNAH5):c.1278T>C (p.Asp426=)
|
rs2151982189
|
|
|
NM_001369.3(DNAH5):c.12794del (p.Asn4265fs)
|
rs2546509072
|
|
|
NM_001369.3(DNAH5):c.1280T>C (p.Val427Ala)
|
rs2547129561
|
|
|
NM_001369.3(DNAH5):c.12813G>A (p.Trp4271Ter)
|
rs763259925
|
|
|
NM_001369.3(DNAH5):c.12816C>T (p.Phe4272=)
|
rs2126503800
|
|
|
NM_001369.3(DNAH5):c.12827T>C (p.Met4276Thr)
|
rs749125278
|
|
|
NM_001369.3(DNAH5):c.1282G>A (p.Val428Ile)
|
rs1195332098
|
|
|
NM_001369.3(DNAH5):c.12850dup (p.Tyr4284fs)
|
rs1744302993
|
|
|
NM_001369.3(DNAH5):c.12851A>G (p.Tyr4284Cys)
|
rs2546508893
|
|
|
NM_001369.3(DNAH5):c.12858_12863delinsGTAAAAT (p.Tyr4287_Asn4288delinsTer)
|
rs2546508833
|
|
|
NM_001369.3(DNAH5):c.12876C>T (p.Cys4292=)
|
rs2126503530
|
|
|
NM_001369.3(DNAH5):c.1289A>C (p.Glu430Ala)
|
|
|
|
NM_001369.3(DNAH5):c.12906C>T (p.Ile4302=)
|
rs113914833
|
|
|
NM_001369.3(DNAH5):c.12909+15G>A
|
rs1048170874
|
|
|
NM_001369.3(DNAH5):c.12909+15G>T
|
rs1048170874
|
|
|
NM_001369.3(DNAH5):c.12909+2T>C
|
rs2126503314
|
|
|
NM_001369.3(DNAH5):c.12909+7C>T
|
rs1476942856
|
|
|
NM_001369.3(DNAH5):c.12909+9A>C
|
rs1554019790
|
|
|
NM_001369.3(DNAH5):c.12909+9A>G
|
rs1554019790
|
|
|
NM_001369.3(DNAH5):c.12910-15G>A
|
rs2546504387
|
|
|
NM_001369.3(DNAH5):c.12910-15del
|
rs1272608681
|
|
|
NM_001369.3(DNAH5):c.12910-17G>A
|
rs1212836814
|
|
|
NM_001369.3(DNAH5):c.12910-1G>C
|
rs1561097225
|
|
|
NM_001369.3(DNAH5):c.12910-20C>G
|
rs2546504457
|
|
|
NM_001369.3(DNAH5):c.12910-9G>C
|
rs930377551
|
|
|
NM_001369.3(DNAH5):c.12913T>C (p.Leu4305=)
|
rs1744045079
|
|
|
NM_001369.3(DNAH5):c.12921C>T (p.Ala4307=)
|
rs2546504252
|
|
|
NM_001369.3(DNAH5):c.12934G>A (p.Glu4312Lys)
|
rs2546504199
|
|
|
NM_001369.3(DNAH5):c.12935A>G (p.Glu4312Gly)
|
|
|
|
NM_001369.3(DNAH5):c.12936G>A (p.Glu4312=)
|
rs773285536
|
|
|
NM_001369.3(DNAH5):c.12939G>A (p.Val4313=)
|
rs2126493778
|
|
|
NM_001369.3(DNAH5):c.12948G>A (p.Leu4316=)
|
rs1744040491
|
|
|
NM_001369.3(DNAH5):c.12972C>T (p.Tyr4324=)
|
rs1395775112
|
|
|
NM_001369.3(DNAH5):c.12990G>A (p.Lys4330=)
|
rs2126493433
|
|
|
NM_001369.3(DNAH5):c.12997C>T (p.Leu4333=)
|
rs1217758791
|
|
|
NM_001369.3(DNAH5):c.1299A>G (p.Leu433=)
|
rs767772562
|
|
|
NM_001369.3(DNAH5):c.129T>C (p.Ile43=)
|
rs2152008893
|
|
|
NM_001369.3(DNAH5):c.13005C>A (p.Thr4335=)
|
rs755271975
|
|
|
NM_001369.3(DNAH5):c.13005C>G (p.Thr4335=)
|
rs755271975
|
|
|
NM_001369.3(DNAH5):c.13008C>T (p.Ile4336=)
|
|
|
|
NM_001369.3(DNAH5):c.13013G>C (p.Gly4338Ala)
|
rs1744030966
|
|
|
NM_001369.3(DNAH5):c.13023C>T (p.Pro4341=)
|
rs762564245
|
|
|
NM_001369.3(DNAH5):c.13032C>A (p.Thr4344=)
|
rs2546503678
|
|
|
NM_001369.3(DNAH5):c.13037G>T (p.Gly4346Val)
|
rs371027404
|
|
|
NM_001369.3(DNAH5):c.13039G>A (p.Gly4347Arg)
|
rs1377305047
|
|
|
NM_001369.3(DNAH5):c.13045G>T (p.Asp4349Tyr)
|
|
|
|
NM_001369.3(DNAH5):c.13059G>A (p.Glu4353=)
|
rs2126492862
|
|
|
NM_001369.3(DNAH5):c.13060del (p.Ala4354fs)
|
rs1370489117
|
|
|
NM_001369.3(DNAH5):c.13062G>A (p.Ala4354=)
|
rs200924641
|
|
|
NM_001369.3(DNAH5):c.13068G>C (p.Val4356=)
|
rs141961399
|
|
|
NM_001369.3(DNAH5):c.13075C>T (p.Leu4359=)
|
rs2546503310
|
|
|
NM_001369.3(DNAH5):c.13095G>A (p.Glu4365=)
|
rs372604448
|
|
|
NM_001369.3(DNAH5):c.13096A>T (p.Lys4366Ter)
|
|
|
|
NM_001369.3(DNAH5):c.13114G>T (p.Val4372Phe)
|
rs1744009916
|
|
|
NM_001369.3(DNAH5):c.13116C>T (p.Val4372=)
|
rs2126492309
|
|
|
NM_001369.3(DNAH5):c.13119C>G (p.Pro4373=)
|
rs2546502963
|
|
|
NM_001369.3(DNAH5):c.13125+10T>C
|
rs2277047
|
|
|
NM_001369.3(DNAH5):c.13125+17C>T
|
rs2546502899
|
|
|
NM_001369.3(DNAH5):c.13125+18T>C
|
rs2546502888
|
|
|
NM_001369.3(DNAH5):c.13125+8G>A
|
rs1579871092
|
|
|
NM_001369.3(DNAH5):c.13125+8G>C
|
rs1579871092
|
|
|
NM_001369.3(DNAH5):c.13126-2A>C
|
rs863224503
|
|
|
NM_001369.3(DNAH5):c.13126-7A>G
|
rs1743063444
|
|
|
NM_001369.3(DNAH5):c.1312C>T (p.Leu438=)
|
rs1263760743
|
|
|
NM_001369.3(DNAH5):c.13134G>A (p.Glu4378=)
|
rs2126456591
|
|
|
NM_001369.3(DNAH5):c.13138C>G (p.Leu4380Val)
|
|
|
|
NM_001369.3(DNAH5):c.13152G>A (p.Gly4384=)
|
rs2126456474
|
|
|
NM_001369.3(DNAH5):c.13152G>T (p.Gly4384=)
|
rs2126456474
|
|
|
NM_001369.3(DNAH5):c.13155A>G (p.Pro4385=)
|
|
|
|
NM_001369.3(DNAH5):c.13159C>T (p.Gln4387Ter)
|
rs1195383216
|
|
|
NM_001369.3(DNAH5):c.13164T>A (p.Pro4388=)
|
rs2126456298
|
|
|
NM_001369.3(DNAH5):c.13179C>T (p.Leu4393=)
|
rs2546487531
|
|
|
NM_001369.3(DNAH5):c.13180A>G (p.Arg4394Gly)
|
rs1446970822
|
|
|
NM_001369.3(DNAH5):c.13188A>G (p.Glu4396=)
|
rs1306675891
|
|
|
NM_001369.3(DNAH5):c.13194_13197del (p.Asp4398fs)
|
rs727502971
|
|
|
NM_001369.3(DNAH5):c.1319A>G (p.Gln440Arg)
|
rs2151982078
|
|
|
NM_001369.3(DNAH5):c.1320+10A>G
|
rs369671081
|
|
|
NM_001369.3(DNAH5):c.1320+14T>C
|
rs2547129294
|
|
|
NM_001369.3(DNAH5):c.1320+18A>G
|
rs2547129283
|
|
|
NM_001369.3(DNAH5):c.1320+2T>C
|
rs2547129339
|
|
|
NM_001369.3(DNAH5):c.1321-10del
|
rs767472532
|
|
|
NM_001369.3(DNAH5):c.1321-19T>C
|
rs2547127819
|
|
|
NM_001369.3(DNAH5):c.1321-27_1321-11del
|
rs2547127798
|
|
|
NM_001369.3(DNAH5):c.1321-2A>G
|
rs2151981226
|
|
|
NM_001369.3(DNAH5):c.1321-4dup
|
rs759536365
|
|
|
NM_001369.3(DNAH5):c.1321-8A>C
|
rs2547127767
|
|
|
NM_001369.3(DNAH5):c.13221C>T (p.Val4407=)
|
rs2546487383
|
|
|
NM_001369.3(DNAH5):c.13222C>G (p.Arg4408Gly)
|
rs150046963
|
|
|
NM_001369.3(DNAH5):c.13222C>T (p.Arg4408Cys)
|
rs150046963
|
|
|
NM_001369.3(DNAH5):c.13229C>G (p.Thr4410Ser)
|
rs146334067
|
|
|
NM_001369.3(DNAH5):c.13230C>A (p.Thr4410=)
|
rs1743047461
|
|
|
NM_001369.3(DNAH5):c.13231C>G (p.Leu4411Val)
|
rs941923241
|
|
|
NM_001369.3(DNAH5):c.13232T>C (p.Leu4411Pro)
|
rs2546487306
|
|
|
NM_001369.3(DNAH5):c.13233C>T (p.Leu4411=)
|
rs2126455723
|
|
|
NM_001369.3(DNAH5):c.13245A>G (p.Lys4415=)
|
|
|
|
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.13260C>T (p.Gly4420=)
|
rs2546487201
|
|
|
NM_001369.3(DNAH5):c.13266C>T (p.Ile4422=)
|
rs1561084758
|
|
|
NM_001369.3(DNAH5):c.13269C>G (p.Ile4423Met)
|
rs769984486
|
|
|
NM_001369.3(DNAH5):c.1326C>G (p.Tyr442Ter)
|
rs1291311803
|
|
|
NM_001369.3(DNAH5):c.1326C>T (p.Tyr442=)
|
rs1291311803
|
|
|
NM_001369.3(DNAH5):c.13293A>G (p.Ala4431=)
|
rs2126455297
|
|
|
NM_001369.3(DNAH5):c.13294T>C (p.Leu4432=)
|
rs1743039989
|
|
|
NM_001369.3(DNAH5):c.13300dup (p.Cys4434fs)
|
rs2546487040
|
|
|
NM_001369.3(DNAH5):c.13301G>A (p.Cys4434Tyr)
|
rs770466215
|
|
|
NM_001369.3(DNAH5):c.13309del (p.Asp4437fs)
|
rs1743038020
|
|
|
NM_001369.3(DNAH5):c.1331T>C (p.Leu444Pro)
|
rs2547127710
|
|
|
NM_001369.3(DNAH5):c.13320C>T (p.Ile4440=)
|
rs2126455088
|
|
|
NM_001369.3(DNAH5):c.1332C>G (p.Leu444=)
|
rs375771650
|
|
|
NM_001369.3(DNAH5):c.1332C>T (p.Leu444=)
|
rs375771650
|
|
|
NM_001369.3(DNAH5):c.13331G>A (p.Trp4444Ter)
|
rs1060501467
|
|
|
NM_001369.3(DNAH5):c.13331G>T (p.Trp4444Leu)
|
rs1060501467
|
|
|
NM_001369.3(DNAH5):c.13332G>A (p.Trp4444Ter)
|
rs2546486911
|
|
|
NM_001369.3(DNAH5):c.13338+13C>A
|
rs2546486850
|
|
|
NM_001369.3(DNAH5):c.13338+18G>A
|
rs925419982
|
|
|
NM_001369.3(DNAH5):c.13338+18G>T
|
rs925419982
|
|
|
NM_001369.3(DNAH5):c.13338+1G>A
|
rs1219958424
|
|
|
NM_001369.3(DNAH5):c.13338del (p.Ala4447fs)
|
rs1554017211
|
|
|
NM_001369.3(DNAH5):c.13339-16A>G
|
rs1742107711
|
|
|
NM_001369.3(DNAH5):c.13339-16A>T
|
rs1742107711
|
|
|
NM_001369.3(DNAH5):c.13339-18T>C
|
rs2546469951
|
|
|
NM_001369.3(DNAH5):c.13339-4G>T
|
rs748821124
|
|
|
NM_001369.3(DNAH5):c.13339-5T>C
|
rs2546469847
|
|
|
NM_001369.3(DNAH5):c.13344T>A (p.Ser4448=)
|
rs2126410484
|
|
|
NM_001369.3(DNAH5):c.13346G>A (p.Trp4449Ter)
|
rs1561073938
|
|
|
NM_001369.3(DNAH5):c.13362G>T (p.Leu4454=)
|
rs2126410290
|
|
|
NM_001369.3(DNAH5):c.13364G>A (p.Gly4455Asp)
|
rs370684795
|
|
|
NM_001369.3(DNAH5):c.13364G>T (p.Gly4455Val)
|
rs370684795
|
|
|
NM_001369.3(DNAH5):c.13377T>C (p.Thr4459=)
|
rs2126410152
|
|
|
NM_001369.3(DNAH5):c.13388A>G (p.Glu4463Gly)
|
rs1251651162
|
|
|
NM_001369.3(DNAH5):c.13392A>C (p.Arg4464Ser)
|
rs765591518
|
|
|
NM_001369.3(DNAH5):c.13398C>T (p.Ser4466=)
|
rs1467639190
|
|
|
NM_001369.3(DNAH5):c.1339C>T (p.His447Tyr)
|
rs2547127683
|
|
|
NM_001369.3(DNAH5):c.13405A>G (p.Thr4469Ala)
|
rs2546469454
|
|
|
NM_001369.3(DNAH5):c.13407C>A (p.Thr4469=)
|
rs2546469446
|
|
|
NM_001369.3(DNAH5):c.13410G>C (p.Ser4470=)
|
rs368920785
|
|
|
NM_001369.3(DNAH5):c.13412G>A (p.Trp4471Ter)
|
rs761077963
|
|
|
NM_001369.3(DNAH5):c.13414G>A (p.Val4472Ile)
|
|
|
|
NM_001369.3(DNAH5):c.1341C>T (p.His447=)
|
rs886060014
|
|
|
NM_001369.3(DNAH5):c.13427G>A (p.Arg4476Gln)
|
|
|
|
NM_001369.3(DNAH5):c.1342A>T (p.Lys448Ter)
|
rs1227276816
|
|
|
NM_001369.3(DNAH5):c.13432_13435del (p.His4478fs)
|
rs760742856
|
|
|
NM_001369.3(DNAH5):c.13443G>A (p.Trp4481Ter)
|
rs1742088018
|
|
|
NM_001369.3(DNAH5):c.13445del (p.Met4482fs)
|
rs2546469352
|
|
|
NM_001369.3(DNAH5):c.13449G>C (p.Thr4483=)
|
rs768159386
|
|
|
NM_001369.3(DNAH5):c.13452T>C (p.Gly4484=)
|
rs758092290
|
|
|
NM_001369.3(DNAH5):c.13452T>G (p.Gly4484=)
|
rs758092290
|
|
|
NM_001369.3(DNAH5):c.13457_13475del (p.Phe4485_Phe4486insTer)
|
rs2126409121
|
|
|
NM_001369.3(DNAH5):c.13458del (p.Phe4486fs)
|
rs775696136
|
|
|
NM_001369.3(DNAH5):c.13458dup (p.Asn4487Ter)
|
rs775696136
|
|
|
NM_001369.3(DNAH5):c.13461C>T (p.Asn4487=)
|
rs572989128
|
|
|
NM_001369.3(DNAH5):c.13462C>T (p.Pro4488Ser)
|
rs113425437
|
|
|
NM_001369.3(DNAH5):c.13464C>T (p.Pro4488=)
|
|
|
|
NM_001369.3(DNAH5):c.13465C>T (p.Gln4489Ter)
|
rs2546469244
|
|
|
NM_001369.3(DNAH5):c.13470A>T (p.Gly4490=)
|
rs2546469224
|
|
|
NM_001369.3(DNAH5):c.13482A>C (p.Ala4494=)
|
rs2546469183
|
|
|
NM_001369.3(DNAH5):c.13486C>A (p.Arg4496=)
|
rs200901816
|
|
|
NM_001369.3(DNAH5):c.13491+1G>A
|
rs2546469118
|
|
|
NM_001369.3(DNAH5):c.13491+7G>A
|
rs1579809056
|
|
|
NM_001369.3(DNAH5):c.13491+8C>A
|
rs1742074967
|
|
|
NM_001369.3(DNAH5):c.13491+9T>A
|
rs2546469083
|
|
|
NM_001369.3(DNAH5):c.13492-10C>T
|
rs2126405922
|
|
|
NM_001369.3(DNAH5):c.13492-5A>C
|
rs770033667
|
|
|
NM_001369.3(DNAH5):c.13492-6G>C
|
rs1742012164
|
|
|
NM_001369.3(DNAH5):c.13492-9C>G
|
rs777751557
|
|
|
NM_001369.3(DNAH5):c.13497A>G (p.Ile4499Met)
|
rs1333029257
|
|
|
NM_001369.3(DNAH5):c.13506C>G (p.Ala4502=)
|
rs2126405614
|
|
|
NM_001369.3(DNAH5):c.13506C>T (p.Ala4502=)
|
rs2126405614
|
|
|
NM_001369.3(DNAH5):c.13513G>T (p.Gly4505Cys)
|
rs1742005673
|
|
|
NM_001369.3(DNAH5):c.1351C>A (p.Gln451Lys)
|
rs751527856
|
|
|
NM_001369.3(DNAH5):c.1351_1355del (p.Gln451fs)
|
rs2151981160
|
|
|
NM_001369.3(DNAH5):c.13527C>T (p.Asp4509=)
|
rs2126405439
|
|
|
NM_001369.3(DNAH5):c.13535T>C (p.Val4512Ala)
|
rs1742002283
|
|
|
NM_001369.3(DNAH5):c.13543A>G (p.Asn4515Asp)
|
rs2126405290
|
|
|
NM_001369.3(DNAH5):c.13544dup (p.Asn4515fs)
|
rs2126405266
|
|
|
NM_001369.3(DNAH5):c.13548A>G (p.Glu4516=)
|
rs1742000009
|
|
|
NM_001369.3(DNAH5):c.13551C>T (p.Val4517=)
|
|
|
|
NM_001369.3(DNAH5):c.13557A>G (p.Lys4519=)
|
|
|
|
NM_001369.3(DNAH5):c.1355del (p.Lys452fs)
|
rs2547127583
|
|
|
NM_001369.3(DNAH5):c.13569C>A (p.Asp4523Glu)
|
rs151080414
|
|
|
NM_001369.3(DNAH5):c.13569C>T (p.Asp4523=)
|
rs151080414
|
|
|
NM_001369.3(DNAH5):c.13586C>G (p.Pro4529Arg)
|
rs138777412
|
|
|
NM_001369.3(DNAH5):c.13593_13594delinsAT (p.Gly4532Cys)
|
rs2546467219
|
|
|
NM_001369.3(DNAH5):c.13601A>G (p.Tyr4534Cys)
|
|
|
|
NM_001369.3(DNAH5):c.13602T>A (p.Tyr4534Ter)
|
rs1579806394
|
|
|
NM_001369.3(DNAH5):c.13605C>T (p.Val4535=)
|
rs1211208126
|
|
|
NM_001369.3(DNAH5):c.13608T>C (p.Tyr4536=)
|
rs2546467160
|
|
|
NM_001369.3(DNAH5):c.13609G>T (p.Gly4537Cys)
|
rs1741988812
|
|
|
NM_001369.3(DNAH5):c.13611C>T (p.Gly4537=)
|
rs1306261256
|
|
|
NM_001369.3(DNAH5):c.13625G>A (p.Gly4542Asp)
|
rs1235308872
|
|
|
NM_001369.3(DNAH5):c.13628C>T (p.Ala4543Val)
|
rs2126404399
|
|
|
NM_001369.3(DNAH5):c.13643G>A (p.Arg4548Lys)
|
rs2546466919
|
|
|
NM_001369.3(DNAH5):c.13656C>A (p.Leu4552=)
|
rs1561071962
|
|
|
NM_001369.3(DNAH5):c.13656_13659del (p.Ile4553fs)
|
rs2546466828
|
|
|
NM_001369.3(DNAH5):c.13680C>G (p.Leu4560=)
|
rs2126403865
|
|
|
NM_001369.3(DNAH5):c.13686G>A (p.Glu4562=)
|
rs766044681
|
|
|
NM_001369.3(DNAH5):c.13686G>C (p.Glu4562Asp)
|
|
|
|
NM_001369.3(DNAH5):c.13688T>G (p.Leu4563Trp)
|
|
|
|
NM_001369.3(DNAH5):c.13696G>C (p.Val4566Leu)
|
rs200891691
|
|
|
NM_001369.3(DNAH5):c.13699A>T (p.Ile4567Leu)
|
rs761546028
|
|
|
NM_001369.3(DNAH5):c.13701A>C (p.Ile4567=)
|
rs2546466659
|
|
|
NM_001369.3(DNAH5):c.13704G>A (p.Arg4568=)
|
rs776530999
|
|
|
NM_001369.3(DNAH5):c.13706T>C (p.Ile4569Thr)
|
|
|
|
NM_001369.3(DNAH5):c.13713A>G (p.Ala4571=)
|
rs1741972132
|
|
|
NM_001369.3(DNAH5):c.13714G>A (p.Glu4572Lys)
|
rs768846678
|
|
|
NM_001369.3(DNAH5):c.13723+11T>C
|
rs2546466576
|
|
|
NM_001369.3(DNAH5):c.13723+15A>G
|
rs2546466561
|
|
|
NM_001369.3(DNAH5):c.13724-10T>C
|
rs2546447940
|
|
|
NM_001369.3(DNAH5):c.13724-12T>C
|
rs2546447957
|
|
|
NM_001369.3(DNAH5):c.13724-18_13724-14del
|
rs756626821
|
|
|
NM_001369.3(DNAH5):c.13724-4G>A
|
rs772086715
|
|
|
NM_001369.3(DNAH5):c.13724-5dup
|
rs1740776209
|
|
|
NM_001369.3(DNAH5):c.13736C>T (p.Pro4579Leu)
|
rs774527322
|
|
|
NM_001369.3(DNAH5):c.1373del (p.Asn458fs)
|
rs1776339162
|
|
|
NM_001369.3(DNAH5):c.13740G>A (p.Arg4580=)
|
rs2546447796
|
|
|
NM_001369.3(DNAH5):c.13746C>A (p.Tyr4582Ter)
|
rs369094478
|
|
|
NM_001369.3(DNAH5):c.13749C>G (p.Ser4583=)
|
rs1452713574
|
|
|
NM_001369.3(DNAH5):c.13753C>T (p.Pro4585Ser)
|
rs760428177
|
|
|
NM_001369.3(DNAH5):c.13753_13759dup (p.Tyr4587fs)
|
|
|
|
NM_001369.3(DNAH5):c.1375G>A (p.Ala459Thr)
|
rs1421332082
|
|
|
NM_001369.3(DNAH5):c.13760A>G (p.Tyr4587Cys)
|
rs1320036244
|
|
|
NM_001369.3(DNAH5):c.13765A>G (p.Lys4589Glu)
|
rs1397044941
|
|
|
NM_001369.3(DNAH5):c.13774C>A (p.Arg4592=)
|
rs758112779
|
|
|
NM_001369.3(DNAH5):c.13774C>T (p.Arg4592Ter)
|
rs758112779
|
|
|
NM_001369.3(DNAH5):c.13775G>C (p.Arg4592Pro)
|
rs367709427
|
|
|
NM_001369.3(DNAH5):c.13779G>C (p.Thr4593=)
|
rs200555581
|
|
|
NM_001369.3(DNAH5):c.13791C>T (p.Tyr4597=)
|
rs1740764848
|
|
|
NM_001369.3(DNAH5):c.13798G>T (p.Ala4600Ser)
|
rs774279588
|
|
|
NM_001369.3(DNAH5):c.13804G>T (p.Asp4602Tyr)
|
rs771108785
|
|
|
NM_001369.3(DNAH5):c.1380del (p.Lys460fs)
|
rs2151981122
|
|
|
NM_001369.3(DNAH5):c.13817C>A (p.Ala4606Asp)
|
rs770244453
|
|
|
NM_001369.3(DNAH5):c.13825C>G (p.Pro4609Ala)
|
rs886059934
|
|
|
NM_001369.3(DNAH5):c.13839G>A (p.Val4613=)
|
rs1740757504
|
|
|
NM_001369.3(DNAH5):c.13844G>C (p.Arg4615Pro)
|
rs1408568795
|
|
|
NM_001369.3(DNAH5):c.13849G>T (p.Val4617Phe)
|
rs923678039
|
|
|
NM_001369.3(DNAH5):c.13862G>A (p.Cys4621Tyr)
|
rs1554012799
|
|
|
NM_001369.3(DNAH5):c.13862G>C (p.Cys4621Ser)
|
rs1554012799
|
|
|
NM_001369.3(DNAH5):c.13869C>G (p.Val4623=)
|
rs1740751970
|
|
|
NM_001369.3(DNAH5):c.1403A>G (p.Tyr468Cys)
|
|
|
|
NM_001369.3(DNAH5):c.1427_1428del (p.Phe476fs)
|
rs774493427
|
|
|
NM_001369.3(DNAH5):c.1437C>A (p.Arg479=)
|
rs750516422
|
|
|
NM_001369.3(DNAH5):c.1437C>T (p.Arg479=)
|
rs750516422
|
|
|
NM_001369.3(DNAH5):c.1438C>T (p.Leu480Phe)
|
rs1580863552
|
|
|
NM_001369.3(DNAH5):c.1450del (p.Ile483_Ile484insTer)
|
rs2547127233
|
|
|
NM_001369.3(DNAH5):c.1456A>G (p.Ile486Val)
|
|
|
|
NM_001369.3(DNAH5):c.1458C>T (p.Ile486=)
|
rs2151980986
|
|
|
NM_001369.3(DNAH5):c.1464A>G (p.Thr488=)
|
rs2151980971
|
|
|
NM_001369.3(DNAH5):c.1466C>T (p.Thr489Ile)
|
rs764562876
|
|
|
NM_001369.3(DNAH5):c.1475C>A (p.Thr492Lys)
|
rs189145014
|
|
|
NM_001369.3(DNAH5):c.1475C>T (p.Thr492Met)
|
rs189145014
|
|
|
NM_001369.3(DNAH5):c.147C>T (p.Asp49=)
|
rs1580945587
|
|
|
NM_001369.3(DNAH5):c.1482A>C (p.Ser494=)
|
rs2547127087
|
|
|
NM_001369.3(DNAH5):c.1485C>G (p.Val495=)
|
rs2151980913
|
|
|
NM_001369.3(DNAH5):c.1485C>T (p.Val495=)
|
|
|
|
NM_001369.3(DNAH5):c.1497C>T (p.Ser499=)
|
rs748092667
|
|
|
NM_001369.3(DNAH5):c.1501_1503delinsGTC (p.Ile501Val)
|
rs1554101056
|
|
|
NM_001369.3(DNAH5):c.1509G>A (p.Gly503=)
|
rs745901461
|
|
|
NM_001369.3(DNAH5):c.1515A>G (p.Glu505=)
|
rs2547126913
|
|
|
NM_001369.3(DNAH5):c.1517dup (p.Asp506fs)
|
rs1554101045
|
|
|
NM_001369.3(DNAH5):c.1522G>A (p.Ala508Thr)
|
rs1160013087
|
|
|
NM_001369.3(DNAH5):c.1523C>A (p.Ala508Asp)
|
rs2547126888
|
|
|
NM_001369.3(DNAH5):c.1524C>A (p.Ala508=)
|
rs2151980816
|
|
|
NM_001369.3(DNAH5):c.1524C>G (p.Ala508=)
|
rs2151980816
|
|
|
NM_001369.3(DNAH5):c.1534C>A (p.Gln512Lys)
|
|
|
|
NM_001369.3(DNAH5):c.1534C>T (p.Gln512Ter)
|
rs764935565
|
|
|
NM_001369.3(DNAH5):c.1536+11_1536+18del
|
rs1776301536
|
|
|
NM_001369.3(DNAH5):c.1536+14A>C
|
rs1245561414
|
|
|
NM_001369.3(DNAH5):c.1536+19A>G
|
rs2547126774
|
|
|
NM_001369.3(DNAH5):c.1536+7T>C
|
rs2547126804
|
|
|
NM_001369.3(DNAH5):c.1536G>A (p.Gln512=)
|
rs541266118
|
|
|
NM_001369.3(DNAH5):c.1537-12A>G
|
rs771107383
|
|
|
NM_001369.3(DNAH5):c.1537-12dup
|
rs2547120460
|
|
|
NM_001369.3(DNAH5):c.1537-14T>C
|
rs779330960
|
|
|
NM_001369.3(DNAH5):c.1537-20T>C
|
rs974141007
|
|
|
NM_001369.3(DNAH5):c.1539C>A (p.Gly513=)
|
rs778297786
|
|
|
NM_001369.3(DNAH5):c.1539C>T (p.Gly513=)
|
rs778297786
|
|
|
NM_001369.3(DNAH5):c.1551C>T (p.Thr517=)
|
rs1775987355
|
|
|
NM_001369.3(DNAH5):c.1562dup (p.Glu522fs)
|
rs1775986353
|
|
|
NM_001369.3(DNAH5):c.1569C>G (p.Tyr523Ter)
|
rs2151977768
|
|
|
NM_001369.3(DNAH5):c.1581C>T (p.Asp527=)
|
rs2547120216
|
|
|
NM_001369.3(DNAH5):c.1585C>G (p.Arg529Gly)
|
rs200452908
|
|
|
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>A (p.Thr53=)
|
rs773322142
|
|
|
NM_001369.3(DNAH5):c.159C>T (p.Thr53=)
|
rs773322142
|
|
|
NM_001369.3(DNAH5):c.1602C>A (p.Asp534Glu)
|
rs753367747
|
|
|
NM_001369.3(DNAH5):c.1602C>T (p.Asp534=)
|
rs753367747
|
|
|
NM_001369.3(DNAH5):c.1611C>G (p.Tyr537Ter)
|
rs367877988
|
|
|
NM_001369.3(DNAH5):c.1626G>A (p.Lys542=)
|
rs2151977672
|
|
|
NM_001369.3(DNAH5):c.1627C>T (p.Gln543Ter)
|
rs2151977668
|
|
|
NM_001369.3(DNAH5):c.1638C>T (p.Asp546=)
|
rs375037194
|
|
|
NM_001369.3(DNAH5):c.1639C>T (p.Leu547Phe)
|
rs1775975227
|
|
|
NM_001369.3(DNAH5):c.1639del (p.Leu547fs)
|
rs1580853061
|
|
|
NM_001369.3(DNAH5):c.1641T>C (p.Leu547=)
|
rs751970542
|
|
|
NM_001369.3(DNAH5):c.1643A>C (p.His548Pro)
|
rs2547119839
|
|
|
NM_001369.3(DNAH5):c.1643A>G (p.His548Arg)
|
rs2547119839
|
|
|
NM_001369.3(DNAH5):c.1644+17A>G
|
rs141672120
|
|
|
NM_001369.3(DNAH5):c.1644+17A>T
|
rs141672120
|
|
|
NM_001369.3(DNAH5):c.1644+7T>G
|
rs2547119815
|
|
|
NM_001369.3(DNAH5):c.1644+8G>A
|
rs2151977626
|
|
|
NM_001369.3(DNAH5):c.1644+9T>G
|
rs2547119805
|
|
|
NM_001369.3(DNAH5):c.1645-20C>G
|
rs1431299489
|
|
|
NM_001369.3(DNAH5):c.1645-2A>G
|
rs2547095136
|
|
|
NM_001369.3(DNAH5):c.1645-8T>G
|
rs2151964175
|
|
|
NM_001369.3(DNAH5):c.1647C>T (p.Asn549=)
|
rs139160176
|
|
|
NM_001369.3(DNAH5):c.1654C>A (p.Arg552=)
|
|
|
|
NM_001369.3(DNAH5):c.1656G>A (p.Arg552=)
|
rs2547095071
|
|
|
NM_001369.3(DNAH5):c.165G>A (p.Val55=)
|
rs1778371009
|
|
|
NM_001369.3(DNAH5):c.1662C>T (p.Phe554=)
|
rs2151964133
|
|
|
NM_001369.3(DNAH5):c.1667A>G (p.Asp556Gly)
|
rs1774708439
|
|
|
NM_001369.3(DNAH5):c.1668T>C (p.Asp556=)
|
rs2151964114
|
|
|
NM_001369.3(DNAH5):c.1674A>G (p.Thr558=)
|
rs1351457972
|
|
|
NM_001369.3(DNAH5):c.1680A>G (p.Ala560=)
|
rs1774705591
|
|
|
NM_001369.3(DNAH5):c.1688A>G (p.Gln563Arg)
|
|
|
|
NM_001369.3(DNAH5):c.1692C>T (p.Asn564=)
|
rs1316083016
|
|
|
NM_001369.3(DNAH5):c.1696A>G (p.Asn566Asp)
|
rs1774703319
|
|
|
NM_001369.3(DNAH5):c.1701del (p.Ala568fs)
|
|
|
|
NM_001369.3(DNAH5):c.1717A>T (p.Lys573Ter)
|
rs776722304
|
|
|
NM_001369.3(DNAH5):c.1722del (p.Lys574fs)
|
rs1164037667
|
|
|
NM_001369.3(DNAH5):c.1730+11C>T
|
rs2547094710
|
|
|
NM_001369.3(DNAH5):c.1730+18T>A
|
rs2547094695
|
|
|
NM_001369.3(DNAH5):c.1730+19T>G
|
rs776031754
|
|
|
NM_001369.3(DNAH5):c.1730+20G>T
|
rs1034410757
|
|
|
NM_001369.3(DNAH5):c.1731-11A>G
|
rs544581376
|
|
|
NM_001369.3(DNAH5):c.1731-11A>T
|
rs544581376
|
|
|
NM_001369.3(DNAH5):c.1731-15T>C
|
rs780181100
|
|
|
NM_001369.3(DNAH5):c.1731-17C>T
|
rs751540507
|
|
|
NM_001369.3(DNAH5):c.1731-2A>T
|
rs2151963411
|
|
|
NM_001369.3(DNAH5):c.1731-5dup
|
rs1489967874
|
|
|
NM_001369.3(DNAH5):c.1746T>C (p.Asn582=)
|
rs371704598
|
|
|
NM_001369.3(DNAH5):c.174C>A (p.Ala58=)
|
rs2152008781
|
|
|
NM_001369.3(DNAH5):c.174C>T (p.Ala58=)
|
rs2152008781
|
|
|
NM_001369.3(DNAH5):c.1766A>C (p.Tyr589Ser)
|
rs1216300808
|
|
|
NM_001369.3(DNAH5):c.1770A>G (p.Gln590=)
|
rs775939948
|
|
|
NM_001369.3(DNAH5):c.1788T>C (p.Tyr596=)
|
rs759783732
|
|
|
NM_001369.3(DNAH5):c.1792G>A (p.Ala598Thr)
|
rs863224706
|
|
|
NM_001369.3(DNAH5):c.1799T>C (p.Ile600Thr)
|
rs1168408091
|
|
|
NM_001369.3(DNAH5):c.1818G>C (p.Leu606=)
|
rs2547092890
|
|
|
NM_001369.3(DNAH5):c.1828C>G (p.Gln610Glu)
|
rs121908853
|
|
|
NM_001369.3(DNAH5):c.1842T>G (p.Pro614=)
|
rs2151963173
|
|
|
NM_001369.3(DNAH5):c.1851T>G (p.Ala617=)
|
|
|
|
NM_001369.3(DNAH5):c.1852C>T (p.Arg618Ter)
|
rs778780449
|
|
|
NM_001369.3(DNAH5):c.1860G>A (p.Gln620=)
|
rs2547092632
|
|
|
NM_001369.3(DNAH5):c.1872T>G (p.Ala624=)
|
rs2547092565
|
|
|
NM_001369.3(DNAH5):c.1875A>G (p.Gly625=)
|
rs760104411
|
|
|
NM_001369.3(DNAH5):c.1882T>C (p.Leu628=)
|
rs143745645
|
|
|
NM_001369.3(DNAH5):c.1884G>A (p.Leu628=)
|
rs534702284
|
|
|
NM_001369.3(DNAH5):c.1890C>T (p.Ala630=)
|
rs1774607365
|
|
|
NM_001369.3(DNAH5):c.1896G>A (p.Gln632=)
|
rs746476934
|
|
|
NM_001369.3(DNAH5):c.1899C>T (p.Leu633=)
|
rs2547092437
|
|
|
NM_001369.3(DNAH5):c.1900T>C (p.Phe634Leu)
|
rs1580809647
|
|
|
NM_001369.3(DNAH5):c.1902C>T (p.Phe634=)
|
rs865879782
|
|
|
NM_001369.3(DNAH5):c.1913A>G (p.Gln638Arg)
|
rs1774599890
|
|
|
NM_001369.3(DNAH5):c.1914G>A (p.Gln638=)
|
rs2151962998
|
|
|
NM_001369.3(DNAH5):c.1915C>T (p.Gln639Ter)
|
rs1580809557
|
|
|
NM_001369.3(DNAH5):c.192+16C>T
|
|
|
|
NM_001369.3(DNAH5):c.192+5G>A
|
rs2547182493
|
|
|
NM_001369.3(DNAH5):c.192+7T>C
|
rs1210630945
|
|
|
NM_001369.3(DNAH5):c.192+7del
|
rs2152008748
|
|
|
NM_001369.3(DNAH5):c.192+9C>A
|
rs200327229
|
|
|
NM_001369.3(DNAH5):c.1924C>T (p.Gln642Ter)
|
rs2547092303
|
|
|
NM_001369.3(DNAH5):c.193-10T>C
|
rs2152004353
|
|
|
NM_001369.3(DNAH5):c.193-13T>C
|
rs2547174653
|
|
|
NM_001369.3(DNAH5):c.193-16T>C
|
rs1177627733
|
|
|
NM_001369.3(DNAH5):c.193-1G>A
|
rs369193065
|
|
|
NM_001369.3(DNAH5):c.193-2A>G
|
rs769267893
|
|
|
NM_001369.3(DNAH5):c.193-6T>A
|
rs762313659
|
|
|
NM_001369.3(DNAH5):c.193-7T>C
|
|
|
|
NM_001369.3(DNAH5):c.1933C>T (p.Gln645Ter)
|
rs2151962965
|
|
|
NM_001369.3(DNAH5):c.1944A>G (p.Pro648=)
|
rs2547092225
|
|
|
NM_001369.3(DNAH5):c.1947T>C (p.Ala649=)
|
rs2547092209
|
|
|
NM_001369.3(DNAH5):c.1950G>C (p.Val650=)
|
rs2151962940
|
|
|
NM_001369.3(DNAH5):c.1951C>T (p.Leu651=)
|
rs1445955378
|
|
|
NM_001369.3(DNAH5):c.1953A>C (p.Leu651=)
|
|
|
|
NM_001369.3(DNAH5):c.1958C>A (p.Thr653Lys)
|
rs201020293
|
|
|
NM_001369.3(DNAH5):c.195T>C (p.Ile65=)
|
rs1051883352
|
|
|
NM_001369.3(DNAH5):c.1974T>C (p.Pro658=)
|
rs1437623528
|
|
|
NM_001369.3(DNAH5):c.1978A>C (p.Ile660Leu)
|
|
|
|
NM_001369.3(DNAH5):c.1988dup (p.Tyr663Ter)
|
rs2547091970
|
|
|
NM_001369.3(DNAH5):c.1989C>A (p.Tyr663Ter)
|
rs2547091952
|
|
|
NM_001369.3(DNAH5):c.2001C>T (p.Ala667=)
|
rs1774581519
|
|
|
NM_001369.3(DNAH5):c.2004G>C (p.Lys668Asn)
|
rs1226480889
|
|
|
NM_001369.3(DNAH5):c.2007C>T (p.Val669=)
|
rs1774580368
|
|
|
NM_001369.3(DNAH5):c.2025C>G (p.Val675=)
|
rs1244645972
|
|
|
NM_001369.3(DNAH5):c.2034C>T (p.His678=)
|
rs1425718994
|
|
|
NM_001369.3(DNAH5):c.2047C>A (p.Arg683=)
|
rs182512638
|
|
|
NM_001369.3(DNAH5):c.204T>C (p.Ile68=)
|
rs1778074557
|
|
|
NM_001369.3(DNAH5):c.2050C>T (p.Gln684Ter)
|
rs1774569874
|
|
|
NM_001369.3(DNAH5):c.2052+17A>T
|
|
|
|
NM_001369.3(DNAH5):c.2052+19A>C
|
rs2547091506
|
|
|
NM_001369.3(DNAH5):c.2052+2T>C
|
rs2547091584
|
|
|
NM_001369.3(DNAH5):c.2052+3G>C
|
rs2547091579
|
|
|
NM_001369.3(DNAH5):c.2052+3G>T
|
rs2547091579
|
|
|
NM_001369.3(DNAH5):c.2052+8C>A
|
rs781310813
|
|
|
NM_001369.3(DNAH5):c.2052+9C>T
|
rs2151962696
|
|
|
NM_001369.3(DNAH5):c.2053-16del
|
rs2151961502
|
|
|
NM_001369.3(DNAH5):c.2053-18_2064del
|
rs1774445982
|
|
|
NM_001369.3(DNAH5):c.2053-20A>T
|
rs2547088607
|
|
|
NM_001369.3(DNAH5):c.2053-9T>C
|
rs1224197284
|
|
|
NM_001369.3(DNAH5):c.2070A>T (p.Val690=)
|
rs2151961452
|
|
|
NM_001369.3(DNAH5):c.2071G>A (p.Gly691Ser)
|
rs866977828
|
|
|
NM_001369.3(DNAH5):c.2072G>A (p.Gly691Asp)
|
rs1561533986
|
|
|
NM_001369.3(DNAH5):c.2072G>C (p.Gly691Ala)
|
|
|
|
NM_001369.3(DNAH5):c.2076T>C (p.Leu692=)
|
rs2547088385
|
|
|
NM_001369.3(DNAH5):c.207T>C (p.Asp69=)
|
rs777266031
|
|
|
NM_001369.3(DNAH5):c.2082T>C (p.Ala694=)
|
rs2547088331
|
|
|
NM_001369.3(DNAH5):c.2085A>G (p.Ser695=)
|
rs762493873
|
|
|
NM_001369.3(DNAH5):c.2090T>A (p.Leu697Ter)
|
rs1554096143
|
|
|
NM_001369.3(DNAH5):c.2098G>C (p.Ala700Pro)
|
rs776296737
|
|
|
NM_001369.3(DNAH5):c.2100_2106del (p.Pro701fs)
|
rs2547088109
|
|
|
NM_001369.3(DNAH5):c.2103A>G (p.Pro701=)
|
rs1287386869
|
|
|
NM_001369.3(DNAH5):c.2104G>C (p.Gly702Arg)
|
rs2547088127
|
|
|
NM_001369.3(DNAH5):c.2113G>T (p.Glu705Ter)
|
rs780489890
|
|
|
NM_001369.3(DNAH5):c.2115A>G (p.Glu705=)
|
rs2547087980
|
|
|
NM_001369.3(DNAH5):c.2117_2136dup (p.Gln713delinsCysLeuTer)
|
rs2547087818
|
|
|
NM_001369.3(DNAH5):c.2118G>A (p.Leu706=)
|
rs766984347
|
|
|
NM_001369.3(DNAH5):c.2119T>C (p.Phe707Leu)
|
rs956123437
|
|
|
NM_001369.3(DNAH5):c.2137C>T (p.Gln713Ter)
|
rs2547087810
|
|
|
NM_001369.3(DNAH5):c.2143T>A (p.Leu715Ile)
|
|
|
|
NM_001369.3(DNAH5):c.2143T>C (p.Leu715=)
|
rs2151961273
|
|
|
NM_001369.3(DNAH5):c.2149T>C (p.Leu717=)
|
rs2151961264
|
|
|
NM_001369.3(DNAH5):c.2154del (p.Phe718fs)
|
rs2547087643
|
|
|
NM_001369.3(DNAH5):c.2175C>A (p.Ala725=)
|
rs2547087492
|
|
|
NM_001369.3(DNAH5):c.2193C>T (p.Val731=)
|
rs766072810
|
|
|
NM_001369.3(DNAH5):c.2199A>G (p.Pro733=)
|
rs2547087285
|
|
|
NM_001369.3(DNAH5):c.2205A>T (p.Ala735=)
|
rs1184076427
|
|
|
NM_001369.3(DNAH5):c.2211C>G (p.Ser737=)
|
rs878854455
|
|
|
NM_001369.3(DNAH5):c.2211C>T (p.Ser737=)
|
rs878854455
|
|
|
NM_001369.3(DNAH5):c.2232A>G (p.Arg744=)
|
rs1774419906
|
|
|
NM_001369.3(DNAH5):c.2250_2259+674del
|
rs1561532139
|
|
|
NM_001369.3(DNAH5):c.2259+12T>C
|
rs1287171547
|
|
|
NM_001369.3(DNAH5):c.2259+14A>G
|
rs1299619785
|
|
|
NM_001369.3(DNAH5):c.2259+16T>G
|
rs771409016
|
|
|
NM_001369.3(DNAH5):c.2259+1G>A
|
rs1341751250
|
|
|
NM_001369.3(DNAH5):c.2259+20T>C
|
rs1359597096
|
|
|
NM_001369.3(DNAH5):c.2259+20del
|
rs374448685
|
|
|
NM_001369.3(DNAH5):c.2259+9C>G
|
rs2151960990
|
|
|
NM_001369.3(DNAH5):c.2260-1G>A
|
rs1561524235
|
|
|
NM_001369.3(DNAH5):c.2260-2A>G
|
rs1773706886
|
|
|
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.2261dup (p.Met754fs)
|
rs672601333
|
|
|
NM_001369.3(DNAH5):c.2262dup (p.Met755fs)
|
rs2151953686
|
|
|
NM_001369.3(DNAH5):c.2264T>C (p.Met755Thr)
|
|
|
|
NM_001369.3(DNAH5):c.2268A>G (p.Leu756=)
|
rs1388270896
|
|
|
NM_001369.3(DNAH5):c.2277T>C (p.Tyr759=)
|
rs1388538464
|
|
|
NM_001369.3(DNAH5):c.2283_2284del (p.Arg761fs)
|
rs1462578042
|
|
|
NM_001369.3(DNAH5):c.2292A>G (p.Ser764=)
|
rs2151953631
|
|
|
NM_001369.3(DNAH5):c.2298A>G (p.Ile766Met)
|
rs770887454
|
|
|
NM_001369.3(DNAH5):c.2313G>A (p.Glu771=)
|
rs1773696261
|
|
|
NM_001369.3(DNAH5):c.2317T>C (p.Leu773=)
|
rs2151953583
|
|
|
NM_001369.3(DNAH5):c.231C>T (p.Leu77=)
|
|
|
|
NM_001369.3(DNAH5):c.2325C>T (p.Val775=)
|
rs1773694933
|
|
|
NM_001369.3(DNAH5):c.232C>T (p.Arg78Ter)
|
rs1314223921
|
|
|
NM_001369.3(DNAH5):c.2337C>T (p.Ala779=)
|
rs748444606
|
|
|
NM_001369.3(DNAH5):c.2339A>C (p.Lys780Thr)
|
rs1773692803
|
|
|
NM_001369.3(DNAH5):c.2349dup (p.Ala784fs)
|
rs2547068751
|
|
|
NM_001369.3(DNAH5):c.234A>G (p.Arg78=)
|
rs1358284280
|
|
|
NM_001369.3(DNAH5):c.2355C>A (p.Leu785=)
|
rs112238091
|
|
|
NM_001369.3(DNAH5):c.2358A>G (p.Gln786=)
|
rs1773691099
|
|
|
NM_001369.3(DNAH5):c.2360C>T (p.Pro787Leu)
|
rs755395400
|
|
|
NM_001369.3(DNAH5):c.2370T>A (p.Ala790=)
|
|
|
|
NM_001369.3(DNAH5):c.2379C>T (p.Thr793=)
|
rs1377358573
|
|
|
NM_001369.3(DNAH5):c.2380T>C (p.Trp794Arg)
|
rs1182974923
|
|
|
NM_001369.3(DNAH5):c.2382G>T (p.Trp794Cys)
|
rs2151953467
|
|
|
NM_001369.3(DNAH5):c.2385A>T (p.Thr795=)
|
rs2547068612
|
|
|
NM_001369.3(DNAH5):c.2389C>T (p.Leu797=)
|
rs2547068599
|
|
|
NM_001369.3(DNAH5):c.2391G>C (p.Leu797=)
|
rs753409819
|
|
|
NM_001369.3(DNAH5):c.2391G>T (p.Leu797=)
|
rs753409819
|
|
|
NM_001369.3(DNAH5):c.2415C>T (p.Asn805=)
|
rs1342623034
|
|
|
NM_001369.3(DNAH5):c.2431+1G>A
|
rs2547068431
|
|
|
NM_001369.3(DNAH5):c.2431+1G>T
|
rs2547068431
|
|
|
NM_001369.3(DNAH5):c.2431+9G>C
|
rs1773679921
|
|
|
NM_001369.3(DNAH5):c.2432-13dup
|
rs2151949072
|
|
|
NM_001369.3(DNAH5):c.2432-15T>C
|
rs2547057782
|
|
|
NM_001369.3(DNAH5):c.2432-16T>C
|
rs2151949087
|
|
|
NM_001369.3(DNAH5):c.2432-18T>C
|
rs2547057802
|
|
|
NM_001369.3(DNAH5):c.2432-1G>C
|
rs2547057734
|
|
|
NM_001369.3(DNAH5):c.2432-20A>T
|
|
|
|
NM_001369.3(DNAH5):c.2432-4A>G
|
rs754431531
|
|
|
NM_001369.3(DNAH5):c.2432-5C>T
|
rs2547057741
|
|
|
NM_001369.3(DNAH5):c.2432-8T>C
|
rs2151949069
|
|
|
NM_001369.3(DNAH5):c.2440G>T (p.Glu814Ter)
|
rs2547057694
|
|
|
NM_001369.3(DNAH5):c.2448G>A (p.Leu816=)
|
rs2547057664
|
|
|
NM_001369.3(DNAH5):c.2457G>A (p.Arg819=)
|
rs1358956633
|
|
|
NM_001369.3(DNAH5):c.2463T>C (p.Asn821=)
|
rs765299019
|
|
|
NM_001369.3(DNAH5):c.2467T>C (p.Leu823=)
|
rs2151948998
|
|
|
NM_001369.3(DNAH5):c.2469G>A (p.Leu823=)
|
rs2547057540
|
|
|
NM_001369.3(DNAH5):c.2479C>A (p.Arg827Ser)
|
rs760986984
|
|
|
NM_001369.3(DNAH5):c.2493T>C (p.Ile831=)
|
rs1402002926
|
|
|
NM_001369.3(DNAH5):c.2504T>A (p.Met835Lys)
|
rs1554092890
|
|
|
NM_001369.3(DNAH5):c.2514G>T (p.Thr838=)
|
rs1403119826
|
|
|
NM_001369.3(DNAH5):c.251A>C (p.Tyr84Ser)
|
|
|
|
NM_001369.3(DNAH5):c.2520T>C (p.Leu840=)
|
rs1416452557
|
|
|
NM_001369.3(DNAH5):c.2529T>A (p.Leu843=)
|
rs1580766255
|
|
|
NM_001369.3(DNAH5):c.2532C>G (p.Pro844=)
|
rs2151948872
|
|
|
NM_001369.3(DNAH5):c.2536G>A (p.Glu846Lys)
|
rs1773148161
|
|
|
NM_001369.3(DNAH5):c.2541G>A (p.Glu847=)
|
rs1488661269
|
|
|
NM_001369.3(DNAH5):c.2545C>T (p.Leu849=)
|
rs1773146294
|
|
|
NM_001369.3(DNAH5):c.2550C>T (p.Thr850=)
|
|
|
|
NM_001369.3(DNAH5):c.2559G>A (p.Glu853=)
|
rs2151948786
|
|
|
NM_001369.3(DNAH5):c.255A>G (p.Gln85=)
|
rs377179099
|
|
|
NM_001369.3(DNAH5):c.2577+12C>A
|
rs2547056756
|
|
|
NM_001369.3(DNAH5):c.2577+16A>G
|
rs753395893
|
|
|
NM_001369.3(DNAH5):c.2577+17T>A
|
rs746962552
|
|
|
NM_001369.3(DNAH5):c.2577+17T>C
|
rs746962552
|
|
|
NM_001369.3(DNAH5):c.2577+1G>A
|
rs867422125
|
|
|
NM_001369.3(DNAH5):c.2577+1G>T
|
rs867422125
|
|
|
NM_001369.3(DNAH5):c.2577+20T>G
|
|
|
|
NM_001369.3(DNAH5):c.2577+2del
|
rs2547056814
|
|
|
NM_001369.3(DNAH5):c.2577+5T>G
|
rs201596289
|
|
|
NM_001369.3(DNAH5):c.2578-10_2578-7del
|
rs71600031
|
|
|
NM_001369.3(DNAH5):c.2578-11T>G
|
rs1397422787
|
|
|
NM_001369.3(DNAH5):c.2578-11_2578-7del
|
rs71600031
|
|
|
NM_001369.3(DNAH5):c.2578-18T>C
|
rs2547043555
|
|
|
NM_001369.3(DNAH5):c.2578-1G>A
|
rs1166599454
|
|
|
NM_001369.3(DNAH5):c.2578-20_2578-19insG
|
rs2547043565
|
|
|
NM_001369.3(DNAH5):c.2578-25dup
|
rs71600031
|
|
|
NM_001369.3(DNAH5):c.2578-5G>C
|
rs76559205
|
|
|
NM_001369.3(DNAH5):c.2578-5del
|
rs752460183
|
|
|
NM_001369.3(DNAH5):c.2578-6_2578-4del
|
rs1453545341
|
|
|
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.2598A>G (p.Ala866=)
|
rs2547043120
|
|
|
NM_001369.3(DNAH5):c.2599C>T (p.Gln867Ter)
|
rs1484394072
|
|
|
NM_001369.3(DNAH5):c.2623T>C (p.Leu875=)
|
rs2151943082
|
|
|
NM_001369.3(DNAH5):c.2631G>A (p.Glu877=)
|
|
|
|
NM_001369.3(DNAH5):c.2640C>G (p.Val880=)
|
rs1772383737
|
|
|
NM_001369.3(DNAH5):c.2640C>T (p.Val880=)
|
rs1772383737
|
|
|
NM_001369.3(DNAH5):c.2648T>C (p.Leu883Pro)
|
rs2151943048
|
|
|
NM_001369.3(DNAH5):c.2659T>C (p.Leu887=)
|
rs2547042703
|
|
|
NM_001369.3(DNAH5):c.2660T>A (p.Leu887Ter)
|
rs2151943036
|
|
|
NM_001369.3(DNAH5):c.2666A>G (p.Asp889Gly)
|
|
|
|
NM_001369.3(DNAH5):c.2673A>G (p.Glu891=)
|
rs1772380664
|
|
|
NM_001369.3(DNAH5):c.2677T>C (p.Leu893=)
|
rs1191854486
|
|
|
NM_001369.3(DNAH5):c.2691A>G (p.Glu897=)
|
|
|
|
NM_001369.3(DNAH5):c.2700A>C (p.Lys900Asn)
|
rs745595467
|
|
|
NM_001369.3(DNAH5):c.2703A>T (p.Ile901=)
|
rs1580744784
|
|
|
NM_001369.3(DNAH5):c.2706C>A (p.Ser902=)
|
rs778689338
|
|
|
NM_001369.3(DNAH5):c.2710G>T (p.Glu904Ter)
|
rs1554090927
|
|
|
NM_001369.3(DNAH5):c.2712G>A (p.Glu904=)
|
|
|
|
NM_001369.3(DNAH5):c.2714_2717dup (p.Ser906delinsArgTer)
|
rs2547042312
|
|
|
NM_001369.3(DNAH5):c.2715T>C (p.Asn905=)
|
rs2151942937
|
|
|
NM_001369.3(DNAH5):c.2718T>C (p.Ser906=)
|
rs2151942929
|
|
|
NM_001369.3(DNAH5):c.2719G>A (p.Val907Ile)
|
rs1772373275
|
|
|
NM_001369.3(DNAH5):c.271G>T (p.Glu91Ter)
|
rs750649191
|
|
|
NM_001369.3(DNAH5):c.2734G>T (p.Glu912Ter)
|
rs1772369775
|
|
|
NM_001369.3(DNAH5):c.2735A>T (p.Glu912Val)
|
rs781678211
|
|
|
NM_001369.3(DNAH5):c.2739T>C (p.Ser913=)
|
rs2151942892
|
|
|
NM_001369.3(DNAH5):c.2739T>G (p.Ser913Arg)
|
rs2151942892
|
|
|
NM_001369.3(DNAH5):c.2743+10G>A
|
rs2547042114
|
|
|
NM_001369.3(DNAH5):c.2743+12G>A
|
rs1380292180
|
|
|
NM_001369.3(DNAH5):c.2743+12G>T
|
rs1380292180
|
|
|
NM_001369.3(DNAH5):c.2743+13G>A
|
rs2547042088
|
|
|
NM_001369.3(DNAH5):c.2743+3A>T
|
rs752170130
|
|
|
NM_001369.3(DNAH5):c.2743+5GA[3]
|
rs2547042133
|
|
|
NM_001369.3(DNAH5):c.2743+7G>A
|
|
|
|
NM_001369.3(DNAH5):c.2743+7G>T
|
rs2151942878
|
|
|
NM_001369.3(DNAH5):c.2743+8A>T
|
rs1340740371
|
|
|
NM_001369.3(DNAH5):c.2743+9T>C
|
rs766846994
|
|
|
NM_001369.3(DNAH5):c.2744-10C>A
|
rs1772234629
|
|
|
NM_001369.3(DNAH5):c.2744-18_2744-13del
|
|
|
|
NM_001369.3(DNAH5):c.2744-20T>C
|
rs2547038841
|
|
|
NM_001369.3(DNAH5):c.2744-2A>T
|
rs780757700
|
|
|
NM_001369.3(DNAH5):c.2744-33ATCTCT[2]
|
rs1212337858
|
|
|
NM_001369.3(DNAH5):c.2744-5A>T
|
rs1392179441
|
|
|
NM_001369.3(DNAH5):c.2744-6T>C
|
rs1580740899
|
|
|
NM_001369.3(DNAH5):c.2744-7G>A
|
|
|
|
NM_001369.3(DNAH5):c.2745A>G (p.Ala915=)
|
rs750846850
|
|
|
NM_001369.3(DNAH5):c.2752G>T (p.Glu918Ter)
|
rs2151941841
|
|
|
NM_001369.3(DNAH5):c.2753AAG[1] (p.Glu919del)
|
rs762827509
|
|
|
NM_001369.3(DNAH5):c.275C>G (p.Thr92Arg)
|
rs765566079
|
|
|
NM_001369.3(DNAH5):c.2769C>T (p.Asp923=)
|
|
|
|
NM_001369.3(DNAH5):c.277+12T>C
|
rs2547174221
|
|
|
NM_001369.3(DNAH5):c.277+13G>C
|
|
|
|
NM_001369.3(DNAH5):c.2772del (p.Thr924_Leu925insTer)
|
rs1554090622
|
|
|
NM_001369.3(DNAH5):c.2774del (p.Thr924_Leu925insTer)
|
rs2547038579
|
|
|
NM_001369.3(DNAH5):c.278-14T>C
|
rs917298115
|
|
|
NM_001369.3(DNAH5):c.278-15A>G
|
rs750295473
|
|
|
NM_001369.3(DNAH5):c.278-5del
|
rs2547161046
|
|
|
NM_001369.3(DNAH5):c.278-9C>G
|
rs2151997384
|
|
|
NM_001369.3(DNAH5):c.2781A>G (p.Ser927=)
|
rs2547038527
|
|
|
NM_001369.3(DNAH5):c.2793C>T (p.Ala931=)
|
rs1772226476
|
|
|
NM_001369.3(DNAH5):c.2806C>T (p.Leu936=)
|
rs2151941762
|
|
|
NM_001369.3(DNAH5):c.2808G>A (p.Leu936=)
|
rs2547038351
|
|
|
NM_001369.3(DNAH5):c.2810T>C (p.Leu937Pro)
|
|
|
|
NM_001369.3(DNAH5):c.2820A>G (p.Thr940=)
|
rs2151941737
|
|
|
NM_001369.3(DNAH5):c.2821G>A (p.Val941Ile)
|
rs370080157
|
|
|
NM_001369.3(DNAH5):c.2823C>G (p.Val941=)
|
rs757208843
|
|
|
NM_001369.3(DNAH5):c.2826G>T (p.Thr942=)
|
rs768837837
|
|
|
NM_001369.3(DNAH5):c.282A>G (p.Gln94=)
|
rs778984269
|
|
|
NM_001369.3(DNAH5):c.2834del (p.Lys945fs)
|
rs2151941712
|
|
|
NM_001369.3(DNAH5):c.2839_2842del (p.Glu947fs)
|
rs1772220687
|
|
|
NM_001369.3(DNAH5):c.283C>T (p.Leu95Phe)
|
rs757542755
|
|
|
NM_001369.3(DNAH5):c.2841A>G (p.Glu947=)
|
|
|
|
NM_001369.3(DNAH5):c.2844T>C (p.Thr948=)
|
rs2151941677
|
|
|
NM_001369.3(DNAH5):c.2847G>C (p.Glu949Asp)
|
rs1327112486
|
|
|
NM_001369.3(DNAH5):c.2856G>A (p.Gly952=)
|
rs2547038073
|
|
|
NM_001369.3(DNAH5):c.2866C>T (p.Arg956Cys)
|
rs151039897
|
|
|
NM_001369.3(DNAH5):c.2867G>A (p.Arg956His)
|
rs752260329
|
|
|
NM_001369.3(DNAH5):c.2867G>C (p.Arg956Pro)
|
rs752260329
|
|
|
NM_001369.3(DNAH5):c.2871G>A (p.Glu957=)
|
|
|
|
NM_001369.3(DNAH5):c.2877C>T (p.Leu959=)
|
rs1201992035
|
|
|
NM_001369.3(DNAH5):c.2880T>A (p.Ser960=)
|
rs2151941591
|
|
|
NM_001369.3(DNAH5):c.2880T>G (p.Ser960=)
|
rs2151941591
|
|
|
NM_001369.3(DNAH5):c.2886C>T (p.Phe962=)
|
rs2151941584
|
|
|
NM_001369.3(DNAH5):c.288C>G (p.Gly96=)
|
rs2151997349
|
|
|
NM_001369.3(DNAH5):c.288C>T (p.Gly96=)
|
rs2151997349
|
|
|
NM_001369.3(DNAH5):c.2892T>C (p.His964=)
|
rs2151941566
|
|
|
NM_001369.3(DNAH5):c.2899A>C (p.Met967Leu)
|
rs764914687
|
|
|
NM_001369.3(DNAH5):c.2907T>G (p.Ala969=)
|
rs2547037590
|
|
|
NM_001369.3(DNAH5):c.2925G>A (p.Arg975=)
|
rs2151941486
|
|
|
NM_001369.3(DNAH5):c.2929A>G (p.Thr977Ala)
|
|
|
|
NM_001369.3(DNAH5):c.2931A>T (p.Thr977=)
|
rs1469143674
|
|
|
NM_001369.3(DNAH5):c.2932C>G (p.Leu978Val)
|
rs1237715134
|
|
|
NM_001369.3(DNAH5):c.2939C>A (p.Ala980Asp)
|
rs2151941469
|
|
|
NM_001369.3(DNAH5):c.294A>T (p.Leu98=)
|
rs1458038548
|
|
|
NM_001369.3(DNAH5):c.2953A>G (p.Ile985Val)
|
rs377668816
|
|
|
NM_001369.3(DNAH5):c.2961C>T (p.Ser987=)
|
rs2547037260
|
|
|
NM_001369.3(DNAH5):c.2970A>G (p.Thr990=)
|
rs2151941432
|
|
|
NM_001369.3(DNAH5):c.2980C>G (p.Arg994Gly)
|
rs560275492
|
|
|
NM_001369.3(DNAH5):c.2983+12G>T
|
rs2547037111
|
|
|
NM_001369.3(DNAH5):c.2983+14G>A
|
rs1772195653
|
|
|
NM_001369.3(DNAH5):c.2983+6A>G
|
|
|
|
NM_001369.3(DNAH5):c.2984-12G>C
|
rs1258457008
|
|
|
NM_001369.3(DNAH5):c.2984-20C>T
|
rs746633535
|
|
|
NM_001369.3(DNAH5):c.2984-20del
|
rs1175703826
|
|
|
NM_001369.3(DNAH5):c.2984-2A>C
|
rs757801770
|
|
|
NM_001369.3(DNAH5):c.2984-5C>T
|
rs1350219806
|
|
|
NM_001369.3(DNAH5):c.2984-6A>C
|
rs2151938834
|
|
|
NM_001369.3(DNAH5):c.2984-8T>G
|
|
|
|
NM_001369.3(DNAH5):c.2986A>G (p.Ser996Gly)
|
|
|
|
NM_001369.3(DNAH5):c.2988T>G (p.Ser996Arg)
|
rs2547031842
|
|
|
NM_001369.3(DNAH5):c.298G>A (p.Gly100Arg)
|
rs764244707
|
|
|
NM_001369.3(DNAH5):c.2991C>T (p.Asn997=)
|
rs376361519
|
|
|
NM_001369.3(DNAH5):c.2994T>C (p.Ser998=)
|
rs2547031793
|
|
|
NM_001369.3(DNAH5):c.2997C>T (p.Ala999=)
|
rs760587023
|
|
|
NM_001369.3(DNAH5):c.3003C>A (p.Asn1001Lys)
|
rs752944631
|
|
|
NM_001369.3(DNAH5):c.3006G>C (p.Met1002Ile)
|
rs1185699460
|
|
|
NM_001369.3(DNAH5):c.3009G>A (p.Lys1003=)
|
rs2547031709
|
|
|
NM_001369.3(DNAH5):c.300G>T (p.Gly100=)
|
rs543407739
|
|
|
NM_001369.3(DNAH5):c.3016A>C (p.Ser1006Arg)
|
rs16902886
|
|
|
NM_001369.3(DNAH5):c.3020del (p.Leu1007fs)
|
rs1771899943
|
|
|
NM_001369.3(DNAH5):c.3036A>C (p.Ala1012=)
|
rs2547031473
|
|
|
NM_001369.3(DNAH5):c.3037_3040del (p.Val1014fs)
|
rs1580731750
|
|
|
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.303A>G (p.Val101=)
|
rs1777513259
|
|
|
NM_001369.3(DNAH5):c.3050C>T (p.Ala1017Val)
|
rs2151938659
|
|
|
NM_001369.3(DNAH5):c.3057C>G (p.Pro1019=)
|
rs2151938636
|
|
|
NM_001369.3(DNAH5):c.3074C>T (p.Pro1025Leu)
|
|
|
|
NM_001369.3(DNAH5):c.3084A>G (p.Glu1028=)
|
rs766451124
|
|
|
NM_001369.3(DNAH5):c.3090A>G (p.Val1030=)
|
rs1771887319
|
|
|
NM_001369.3(DNAH5):c.3104A>G (p.Asn1035Ser)
|
|
|
|
NM_001369.3(DNAH5):c.3115G>T (p.Glu1039Ter)
|
|
|
|
NM_001369.3(DNAH5):c.3120C>T (p.Cys1040=)
|
rs2151938511
|
|
|
NM_001369.3(DNAH5):c.3123C>G (p.Ile1041Met)
|
|
|
|
NM_001369.3(DNAH5):c.3126C>T (p.Ile1042=)
|
rs2547030971
|
|
|
NM_001369.3(DNAH5):c.3127A>G (p.Ser1043Gly)
|
rs1771881510
|
|
|
NM_001369.3(DNAH5):c.3128del (p.Ser1043fs)
|
|
|
|
NM_001369.3(DNAH5):c.3129T>C (p.Ser1043=)
|
rs2151938486
|
|
|
NM_001369.3(DNAH5):c.3134C>T (p.Pro1045Leu)
|
|
|
|
NM_001369.3(DNAH5):c.3141G>A (p.Gly1047=)
|
rs2547030864
|
|
|
NM_001369.3(DNAH5):c.3142G>A (p.Val1048Ile)
|
rs979841998
|
|
|
NM_001369.3(DNAH5):c.3147A>G (p.Arg1049=)
|
rs1210584346
|
|
|
NM_001369.3(DNAH5):c.3155_3162dup (p.Leu1055fs)
|
rs2151938387
|
|
|
NM_001369.3(DNAH5):c.3162A>G (p.Glu1054=)
|
rs200663236
|
|
|
NM_001369.3(DNAH5):c.3174+10G>C
|
rs749250823
|
|
|
NM_001369.3(DNAH5):c.3174+14G>A
|
rs774005144
|
|
|
NM_001369.3(DNAH5):c.3174+7A>G
|
rs1457339631
|
|
|
NM_001369.3(DNAH5):c.3175-1G>A
|
rs2547030385
|
|
|
NM_001369.3(DNAH5):c.3175-9A>G
|
rs2151938218
|
|
|
NM_001369.3(DNAH5):c.3181A>C (p.Ile1061Leu)
|
rs1771855564
|
|
|
NM_001369.3(DNAH5):c.3184C>T (p.Gln1062Ter)
|
rs1440167859
|
|
|
NM_001369.3(DNAH5):c.3190A>G (p.Arg1064Gly)
|
rs2547030314
|
|
|
NM_001369.3(DNAH5):c.319A>C (p.Lys107Gln)
|
|
|
|
NM_001369.3(DNAH5):c.3212G>A (p.Ser1071Asn)
|
rs2151938135
|
|
|
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.3234T>C (p.Asp1078=)
|
rs2151938106
|
|
|
NM_001369.3(DNAH5):c.3259C>T (p.Gln1087Ter)
|
rs1771846004
|
|
|
NM_001369.3(DNAH5):c.325A>T (p.Lys109Ter)
|
rs2547160581
|
|
|
NM_001369.3(DNAH5):c.3262+10C>A
|
rs1303999221
|
|
|
NM_001369.3(DNAH5):c.3262+10C>G
|
rs1303999221
|
|
|
NM_001369.3(DNAH5):c.3262+13T>A
|
rs2547029991
|
|
|
NM_001369.3(DNAH5):c.3262+1G>A
|
rs757275351
|
|
|
NM_001369.3(DNAH5):c.3262+1del
|
rs2547030082
|
|
|
NM_001369.3(DNAH5):c.3262+20T>G
|
rs753303640
|
|
|
NM_001369.3(DNAH5):c.3262+2T>G
|
rs2151938077
|
|
|
NM_001369.3(DNAH5):c.3263-13T>G
|
rs2547014494
|
|
|
NM_001369.3(DNAH5):c.3263-19_3263-15del
|
rs1225902628
|
|
|
NM_001369.3(DNAH5):c.3263-2A>G
|
rs1327044106
|
|
|
NM_001369.3(DNAH5):c.3263-3del
|
rs2151929250
|
|
|
NM_001369.3(DNAH5):c.3263-4T>C
|
rs2547014446
|
|
|
NM_001369.3(DNAH5):c.3263-7T>C
|
rs1442983174
|
|
|
NM_001369.3(DNAH5):c.3263-7T>G
|
rs1442983174
|
|
|
NM_001369.3(DNAH5):c.3263-9del
|
rs1561487993
|
|
|
NM_001369.3(DNAH5):c.3263-9dup
|
rs1561487993
|
|
|
NM_001369.3(DNAH5):c.3267C>G (p.Thr1089=)
|
rs2151929227
|
|
|
NM_001369.3(DNAH5):c.3276A>C (p.Ile1092=)
|
rs753124905
|
|
|
NM_001369.3(DNAH5):c.3279A>C (p.Ala1093=)
|
rs764928831
|
|
|
NM_001369.3(DNAH5):c.3279A>G (p.Ala1093=)
|
rs764928831
|
|
|
NM_001369.3(DNAH5):c.3279A>T (p.Ala1093=)
|
|
|
|
NM_001369.3(DNAH5):c.3285A>C (p.Val1095=)
|
rs761360147
|
|
|
NM_001369.3(DNAH5):c.3291A>G (p.Leu1097=)
|
rs2467822783
|
|
|
NM_001369.3(DNAH5):c.3291dup (p.Pro1098fs)
|
rs762081081
|
|
|
NM_001369.3(DNAH5):c.3297del (p.Val1101fs)
|
rs2547014293
|
|
|
NM_001369.3(DNAH5):c.329A>C (p.Lys110Thr)
|
rs2547160570
|
|
|
NM_001369.3(DNAH5):c.3304C>T (p.Gln1102Ter)
|
rs774143246
|
|
|
NM_001369.3(DNAH5):c.3306A>G (p.Gln1102=)
|
rs2547014229
|
|
|
NM_001369.3(DNAH5):c.3309C>T (p.Thr1103=)
|
rs2547014202
|
|
|
NM_001369.3(DNAH5):c.3315C>T (p.Asn1105=)
|
rs144053917
|
|
|
NM_001369.3(DNAH5):c.3316TAT[1] (p.Tyr1107del)
|
rs776767185
|
|
|
NM_001369.3(DNAH5):c.3336A>G (p.Glu1112=)
|
rs2151929058
|
|
|
NM_001369.3(DNAH5):c.3339C>T (p.Asn1113=)
|
rs2151929049
|
|
|
NM_001369.3(DNAH5):c.3341_3342del (p.Lys1114fs)
|
rs768881056
|
|
|
NM_001369.3(DNAH5):c.3378_3379insTG (p.Ile1127Ter)
|
rs1561487416
|
|
|
NM_001369.3(DNAH5):c.3387C>T (p.Ser1129=)
|
rs1472087285
|
|
|
NM_001369.3(DNAH5):c.3390C>T (p.Thr1130=)
|
rs1189840629
|
|
|
NM_001369.3(DNAH5):c.3393A>G (p.Lys1131=)
|
rs2151928916
|
|
|
NM_001369.3(DNAH5):c.3396+10G>A
|
rs1401209111
|
|
|
NM_001369.3(DNAH5):c.3396+9A>C
|
rs1770935026
|
|
|
NM_001369.3(DNAH5):c.3396+9A>G
|
rs1770935026
|
|
|
NM_001369.3(DNAH5):c.3397-15G>C
|
rs754521761
|
|
|
NM_001369.3(DNAH5):c.3397-20A>G
|
rs2547000634
|
|
|
NM_001369.3(DNAH5):c.3397-8G>A
|
rs200694593
|
|
|
NM_001369.3(DNAH5):c.3408A>T (p.Thr1136=)
|
rs762124795
|
|
|
NM_001369.3(DNAH5):c.340_358del (p.Phe114fs)
|
rs2151997211
|
|
|
NM_001369.3(DNAH5):c.3415G>C (p.Asp1139His)
|
rs1554085372
|
|
|
NM_001369.3(DNAH5):c.3428del (p.Arg1143fs)
|
|
|
|
NM_001369.3(DNAH5):c.3438C>T (p.His1146=)
|
rs779321133
|
|
|
NM_001369.3(DNAH5):c.3443G>A (p.Trp1148Ter)
|
rs1007367534
|
|
|
NM_001369.3(DNAH5):c.3457G>T (p.Glu1153Ter)
|
rs779799358
|
|
|
NM_001369.3(DNAH5):c.3462A>G (p.Glu1154=)
|
rs1338159814
|
|
|
NM_001369.3(DNAH5):c.3466del (p.Ile1156fs)
|
rs775866092
|
|
|
NM_001369.3(DNAH5):c.3471G>A (p.Lys1157=)
|
rs865979045
|
|
|
NM_001369.3(DNAH5):c.3476T>G (p.Phe1159Cys)
|
rs375100071
|
|
|
NM_001369.3(DNAH5):c.3483A>C (p.Thr1161=)
|
rs2151920490
|
|
|
NM_001369.3(DNAH5):c.3483A>G (p.Thr1161=)
|
rs2151920490
|
|
|
NM_001369.3(DNAH5):c.3486G>A (p.Gln1162=)
|
rs2151920483
|
|
|
NM_001369.3(DNAH5):c.3491C>T (p.Pro1164Leu)
|
rs878854456
|
|
|
NM_001369.3(DNAH5):c.349G>T (p.Glu117Ter)
|
rs116128702
|
|
|
NM_001369.3(DNAH5):c.349del (p.Glu117fs)
|
rs1580909690
|
|
|
NM_001369.3(DNAH5):c.3504del (p.Glu1168fs)
|
rs2546999923
|
|
|
NM_001369.3(DNAH5):c.3513C>A (p.Ser1171=)
|
rs1770119547
|
|
|
NM_001369.3(DNAH5):c.3514C>T (p.Gln1172Ter)
|
rs141168110
|
|
|
NM_001369.3(DNAH5):c.3516G>A (p.Gln1172=)
|
rs2151920417
|
|
|
NM_001369.3(DNAH5):c.3538G>A (p.Glu1180Lys)
|
rs1561477933
|
|
|
NM_001369.3(DNAH5):c.3554C>G (p.Ala1185Gly)
|
rs757075459
|
|
|
NM_001369.3(DNAH5):c.3555T>C (p.Ala1185=)
|
rs2546999662
|
|
|
NM_001369.3(DNAH5):c.3558G>A (p.Glu1186=)
|
rs1770112759
|
|
|
NM_001369.3(DNAH5):c.3564A>G (p.Glu1188=)
|
rs2546999609
|
|
|
NM_001369.3(DNAH5):c.3567T>C (p.Tyr1189=)
|
rs1436338480
|
|
|
NM_001369.3(DNAH5):c.356A>G (p.Asn119Ser)
|
rs1777508838
|
|
|
NM_001369.3(DNAH5):c.3573T>C (p.Cys1191=)
|
rs756343037
|
|
|
NM_001369.3(DNAH5):c.3578del (p.Gly1193fs)
|
rs2151920264
|
|
|
NM_001369.3(DNAH5):c.3589_3590del (p.Leu1197fs)
|
rs1561477725
|
|
|
NM_001369.3(DNAH5):c.3595A>C (p.Thr1199Pro)
|
rs1770106766
|
|
|
NM_001369.3(DNAH5):c.3598+11_3598+17dup
|
rs1561477679
|
|
|
NM_001369.3(DNAH5):c.3598+16T>C
|
rs2546999359
|
|
|
NM_001369.3(DNAH5):c.3598+1G>A
|
rs2151920209
|
|
|
NM_001369.3(DNAH5):c.3598+2T>C
|
rs981267400
|
|
|
NM_001369.3(DNAH5):c.3599-18A>G
|
|
|
|
NM_001369.3(DNAH5):c.3599-2A>G
|
rs1187251909
|
|
|
NM_001369.3(DNAH5):c.3599-7T>C
|
rs2546996907
|
|
|
NM_001369.3(DNAH5):c.3599-8T>A
|
rs2546996911
|
|
|
NM_001369.3(DNAH5):c.3615C>T (p.Ala1205=)
|
rs1770016530
|
|
|
NM_001369.3(DNAH5):c.3616C>T (p.Leu1206=)
|
rs2546996784
|
|
|
NM_001369.3(DNAH5):c.3618G>A (p.Leu1206=)
|
rs1214008235
|
|
|
NM_001369.3(DNAH5):c.3619A>C (p.Thr1207Pro)
|
rs751652153
|
|
|
NM_001369.3(DNAH5):c.3624T>C (p.Ala1208=)
|
rs2151919068
|
|
|
NM_001369.3(DNAH5):c.3627G>A (p.Glu1209=)
|
rs1263509043
|
|
|
NM_001369.3(DNAH5):c.3633G>A (p.Lys1211=)
|
rs2546996662
|
|
|
NM_001369.3(DNAH5):c.3640A>G (p.Met1214Val)
|
rs766505155
|
|
|
NM_001369.3(DNAH5):c.3643G>T (p.Val1215Phe)
|
rs763448297
|
|
|
NM_001369.3(DNAH5):c.3650T>G (p.Ile1217Ser)
|
rs112124692
|
|
|
NM_001369.3(DNAH5):c.3651T>C (p.Ile1217=)
|
rs1580682981
|
|
|
NM_001369.3(DNAH5):c.3657C>T (p.Arg1219=)
|
rs1246943178
|
|
|
NM_001369.3(DNAH5):c.3667A>G (p.Lys1223Glu)
|
rs1209049233
|
|
|
NM_001369.3(DNAH5):c.3669A>T (p.Lys1223Asn)
|
rs2546996368
|
|
|
NM_001369.3(DNAH5):c.3671A>G (p.Lys1224Arg)
|
rs1561476005
|
|
|
NM_001369.3(DNAH5):c.3675C>G (p.Tyr1225Ter)
|
rs769582678
|
|
|
NM_001369.3(DNAH5):c.3681T>C (p.Ser1227=)
|
rs755142785
|
|
|
NM_001369.3(DNAH5):c.3684G>A (p.Glu1228=)
|
rs780079379
|
|
|
NM_001369.3(DNAH5):c.3693C>T (p.Asn1231=)
|
rs969699608
|
|
|
NM_001369.3(DNAH5):c.3708T>G (p.Ile1236Met)
|
rs1769997412
|
|
|
NM_001369.3(DNAH5):c.3711A>G (p.Glu1237=)
|
rs2151918811
|
|
|
NM_001369.3(DNAH5):c.3717C>T (p.Phe1239=)
|
rs2546996087
|
|
|
NM_001369.3(DNAH5):c.371C>G (p.Thr124Ser)
|
|
|
|
NM_001369.3(DNAH5):c.3725A>G (p.Lys1242Arg)
|
rs1769995434
|
|
|
NM_001369.3(DNAH5):c.3727C>G (p.Leu1243Val)
|
rs2151918770
|
|
|
NM_001369.3(DNAH5):c.3729A>C (p.Leu1243=)
|
rs2546996013
|
|
|
NM_001369.3(DNAH5):c.3729A>G (p.Leu1243=)
|
|
|
|
NM_001369.3(DNAH5):c.3750A>T (p.Leu1250=)
|
rs577862328
|
|
|
NM_001369.3(DNAH5):c.3753T>C (p.Asp1251=)
|
rs1060504237
|
|
|
NM_001369.3(DNAH5):c.375G>C (p.Gly125=)
|
|
|
|
NM_001369.3(DNAH5):c.3767C>T (p.Ala1256Val)
|
rs780280647
|
|
|
NM_001369.3(DNAH5):c.376del (p.Val126fs)
|
rs35129409
|
|
|
NM_001369.3(DNAH5):c.3772G>A (p.Ala1258Thr)
|
|
|
|
NM_001369.3(DNAH5):c.3777G>C (p.Ala1259=)
|
rs144893234
|
|
|
NM_001369.3(DNAH5):c.3780G>A (p.Leu1260=)
|
rs2151918565
|
|
|
NM_001369.3(DNAH5):c.3784G>T (p.Glu1262Ter)
|
rs1470329012
|
|
|
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.3792G>A (p.Arg1264=)
|
rs769589158
|
|
|
NM_001369.3(DNAH5):c.3795G>C (p.Glu1265Asp)
|
rs2546995639
|
|
|
NM_001369.3(DNAH5):c.3804C>T (p.Ile1268=)
|
rs2546995597
|
|
|
NM_001369.3(DNAH5):c.3828T>G (p.Pro1276=)
|
rs1266421281
|
|
|
NM_001369.3(DNAH5):c.3829A>T (p.Ile1277Phe)
|
rs766159440
|
|
|
NM_001369.3(DNAH5):c.3834+10G>A
|
rs772584808
|
|
|
NM_001369.3(DNAH5):c.3834+12T>A
|
rs2546995430
|
|
|
NM_001369.3(DNAH5):c.3834+1G>A
|
rs2546995478
|
|
|
NM_001369.3(DNAH5):c.3834+7A>G
|
rs2151918452
|
|
|
NM_001369.3(DNAH5):c.3834+8A>C
|
rs762484857
|
|
|
NM_001369.3(DNAH5):c.3835-11_3835-10insA
|
rs2546988822
|
|
|
NM_001369.3(DNAH5):c.3835-12A>G
|
rs756505987
|
|
|
NM_001369.3(DNAH5):c.3835-12A>T
|
rs756505987
|
|
|
NM_001369.3(DNAH5):c.3835-14C>T
|
rs2546988848
|
|
|
NM_001369.3(DNAH5):c.3835-16del
|
rs746415006
|
|
|
NM_001369.3(DNAH5):c.3835-18T>A
|
rs989520815
|
|
|
NM_001369.3(DNAH5):c.3835-2del
|
rs2151914274
|
|
|
NM_001369.3(DNAH5):c.3835-3del
|
rs35398031
|
|
|
NM_001369.3(DNAH5):c.3835-3dup
|
rs35398031
|
|
|
NM_001369.3(DNAH5):c.3835-4T>A
|
rs2151914292
|
|
|
NM_001369.3(DNAH5):c.3835-4_3835-3del
|
rs35398031
|
|
|
NM_001369.3(DNAH5):c.3835-4_3835-3dup
|
rs35398031
|
|
|
NM_001369.3(DNAH5):c.3835-8T>C
|
rs2151914303
|
|
|
NM_001369.3(DNAH5):c.3835-8T>G
|
rs2151914303
|
|
|
NM_001369.3(DNAH5):c.3837A>T (p.Glu1279Asp)
|
rs750132119
|
|
|
NM_001369.3(DNAH5):c.3846C>G (p.Ala1282=)
|
rs140336904
|
|
|
NM_001369.3(DNAH5):c.3847C>T (p.Leu1283=)
|
rs2546988715
|
|
|
NM_001369.3(DNAH5):c.3849G>A (p.Leu1283=)
|
rs1769529574
|
|
|
NM_001369.3(DNAH5):c.3849G>T (p.Leu1283=)
|
rs1769529574
|
|
|
NM_001369.3(DNAH5):c.384G>A (p.Val128=)
|
rs201109037
|
|
|
NM_001369.3(DNAH5):c.3855C>T (p.Asn1285=)
|
rs1769528229
|
|
|
NM_001369.3(DNAH5):c.3864A>G (p.Gly1288=)
|
rs756462132
|
|
|
NM_001369.3(DNAH5):c.3903A>G (p.Thr1301=)
|
rs1769518336
|
|
|
NM_001369.3(DNAH5):c.3904C>A (p.Leu1302Met)
|
rs1335346987
|
|
|
NM_001369.3(DNAH5):c.390C>T (p.Phe130=)
|
rs1580909350
|
|
|
NM_001369.3(DNAH5):c.3912T>G (p.Tyr1304Ter)
|
rs1769515132
|
|
|
NM_001369.3(DNAH5):c.3917G>A (p.Trp1306Ter)
|
rs2546988377
|
|
|
NM_001369.3(DNAH5):c.3918G>A (p.Trp1306Ter)
|
rs2546988372
|
|
|
NM_001369.3(DNAH5):c.3930G>C (p.Leu1310=)
|
rs1294865241
|
|
|
NM_001369.3(DNAH5):c.3943G>C (p.Glu1315Gln)
|
|
|
|
NM_001369.3(DNAH5):c.3943G>T (p.Glu1315Ter)
|
rs753397685
|
|
|
NM_001369.3(DNAH5):c.3948C>G (p.Val1316=)
|
rs369432984
|
|
|
NM_001369.3(DNAH5):c.3949C>T (p.Gln1317Ter)
|
rs1769508571
|
|
|
NM_001369.3(DNAH5):c.3959T>C (p.Leu1320Ser)
|
rs1427529925
|
|
|
NM_001369.3(DNAH5):c.3965C>T (p.Ser1322Leu)
|
rs2546988231
|
|
|
NM_001369.3(DNAH5):c.3966A>C (p.Ser1322=)
|
rs775449337
|
|
|
NM_001369.3(DNAH5):c.3966A>G (p.Ser1322=)
|
rs775449337
|
|
|
NM_001369.3(DNAH5):c.3966_3967inv (p.Ser1322_Leu1323=)
|
|
|
|
NM_001369.3(DNAH5):c.3967C>G (p.Leu1323Val)
|
|
|
|
NM_001369.3(DNAH5):c.3972G>A (p.Gln1324=)
|
rs2151913944
|
|
|
NM_001369.3(DNAH5):c.3984G>A (p.Lys1328=)
|
rs1274489051
|
|
|
NM_001369.3(DNAH5):c.3996T>C (p.Ile1332=)
|
rs1580668969
|
|
|
NM_001369.3(DNAH5):c.4013T>C (p.Phe1338Ser)
|
|
|
|
NM_001369.3(DNAH5):c.401A>G (p.Asp134Gly)
|
rs2547160038
|
|
|
NM_001369.3(DNAH5):c.4025G>T (p.Cys1342Phe)
|
rs2546987963
|
|
|
NM_001369.3(DNAH5):c.4042G>T (p.Asp1348Tyr)
|
rs368748560
|
|
|
NM_001369.3(DNAH5):c.4044C>T (p.Asp1348=)
|
rs2151913836
|
|
|
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.4053+1G>A
|
rs1060501466
|
|
|
NM_001369.3(DNAH5):c.4053+1G>T
|
rs1060501466
|
|
|
NM_001369.3(DNAH5):c.4053+7C>G
|
rs2546987859
|
|
|
NM_001369.3(DNAH5):c.4053+7C>T
|
rs2546987859
|
|
|
NM_001369.3(DNAH5):c.4053+9C>T
|
rs2546987849
|
|
|
NM_001369.3(DNAH5):c.4054-10T>G
|
rs2546984638
|
|
|
NM_001369.3(DNAH5):c.4054-16T>C
|
rs2546984664
|
|
|
NM_001369.3(DNAH5):c.4054-17T>C
|
rs2546984672
|
|
|
NM_001369.3(DNAH5):c.4054-18T>C
|
rs1245185392
|
|
|
NM_001369.3(DNAH5):c.4054-1G>A
|
rs2151911687
|
|
|
NM_001369.3(DNAH5):c.4054-5T>C
|
rs2151911701
|
|
|
NM_001369.3(DNAH5):c.4056T>C (p.Asn1352=)
|
rs1580661750
|
|
|
NM_001369.3(DNAH5):c.4075T>C (p.Leu1359=)
|
rs2546984510
|
|
|
NM_001369.3(DNAH5):c.4078A>T (p.Lys1360Ter)
|
rs1769232570
|
|
|
NM_001369.3(DNAH5):c.4084C>T (p.Gln1362Ter)
|
rs1210217648
|
|
|
NM_001369.3(DNAH5):c.4084dup (p.Gln1362fs)
|
rs2151911603
|
|
|
NM_001369.3(DNAH5):c.4087G>T (p.Glu1363Ter)
|
rs776835054
|
|
|
NM_001369.3(DNAH5):c.408C>T (p.Ser136=)
|
rs2547159978
|
|
|
NM_001369.3(DNAH5):c.4094del (p.Ser1365fs)
|
rs1769229991
|
|
|
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.4104T>C (p.Leu1368=)
|
rs775914213
|
|
|
NM_001369.3(DNAH5):c.4106T>C (p.Ile1369Thr)
|
rs1364768386
|
|
|
NM_001369.3(DNAH5):c.4107_4111del (p.Met1370fs)
|
|
|
|
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.4113T>G (p.Phe1371Leu)
|
rs1561465310
|
|
|
NM_001369.3(DNAH5):c.4116+16T>C
|
rs2151911511
|
|
|
NM_001369.3(DNAH5):c.4116+17C>T
|
rs1769221129
|
|
|
NM_001369.3(DNAH5):c.4116+1G>A
|
|
|
|
NM_001369.3(DNAH5):c.4116+7T>G
|
rs2546984244
|
|
|
NM_001369.3(DNAH5):c.4117-10T>C
|
rs1395224974
|
|
|
NM_001369.3(DNAH5):c.4117-17A>G
|
rs979740459
|
|
|
NM_001369.3(DNAH5):c.4117-1G>A
|
rs2546983271
|
|
|
NM_001369.3(DNAH5):c.4117-5A>G
|
rs1444994332
|
|
|
NM_001369.3(DNAH5):c.4117-9T>C
|
rs1769178877
|
|
|
NM_001369.3(DNAH5):c.4140G>T (p.Arg1380=)
|
rs1395122694
|
|
|
NM_001369.3(DNAH5):c.4146C>A (p.Tyr1382Ter)
|
|
|
|
NM_001369.3(DNAH5):c.4152A>C (p.Thr1384=)
|
rs7703349
|
|
|
NM_001369.3(DNAH5):c.4152A>T (p.Thr1384=)
|
rs7703349
|
|
|
NM_001369.3(DNAH5):c.4157del (p.Thr1386fs)
|
rs1554082872
|
|
|
NM_001369.3(DNAH5):c.4164A>G (p.Gly1388=)
|
|
|
|
NM_001369.3(DNAH5):c.4182G>C (p.Leu1394=)
|
rs764257263
|
|
|
NM_001369.3(DNAH5):c.4185A>G (p.Pro1395=)
|
rs2546983075
|
|
|
NM_001369.3(DNAH5):c.4201C>T (p.Gln1401Ter)
|
rs1341570153
|
|
|
NM_001369.3(DNAH5):c.4209T>C (p.Leu1403=)
|
rs1397223291
|
|
|
NM_001369.3(DNAH5):c.420C>G (p.Thr140=)
|
rs369627707
|
|
|
NM_001369.3(DNAH5):c.420C>T (p.Thr140=)
|
rs369627707
|
|
|
NM_001369.3(DNAH5):c.4215A>T (p.Ile1405=)
|
|
|
|
NM_001369.3(DNAH5):c.4218del (p.Lys1407fs)
|
|
|
|
NM_001369.3(DNAH5):c.4221G>A (p.Lys1407=)
|
rs370117050
|
|
|
NM_001369.3(DNAH5):c.4224A>G (p.Gln1408=)
|
rs1399608615
|
|
|
NM_001369.3(DNAH5):c.4225C>T (p.Leu1409=)
|
rs1175342095
|
|
|
NM_001369.3(DNAH5):c.4226T>C (p.Leu1409Pro)
|
|
|
|
NM_001369.3(DNAH5):c.4251T>C (p.Thr1417=)
|
rs2151910839
|
|
|
NM_001369.3(DNAH5):c.4252C>T (p.Leu1418=)
|
rs191439927
|
|
|
NM_001369.3(DNAH5):c.4254G>A (p.Leu1418=)
|
rs548183364
|
|
|
NM_001369.3(DNAH5):c.4254G>C (p.Leu1418=)
|
rs548183364
|
|
|
NM_001369.3(DNAH5):c.4254G>T (p.Leu1418=)
|
rs548183364
|
|
|
NM_001369.3(DNAH5):c.4257C>A (p.Tyr1419Ter)
|
rs1769153825
|
|
|
NM_001369.3(DNAH5):c.4262del (p.Ser1421fs)
|
|
|
|
NM_001369.3(DNAH5):c.4267A>G (p.Ile1423Val)
|
|
|
|
NM_001369.3(DNAH5):c.426_427delinsG (p.Asp142fs)
|
rs1777499541
|
|
|
NM_001369.3(DNAH5):c.4270G>T (p.Glu1424Ter)
|
rs2151910789
|
|
|
NM_001369.3(DNAH5):c.4276G>A (p.Val1426Ile)
|
rs770812772
|
|
|
NM_001369.3(DNAH5):c.4278A>C (p.Val1426=)
|
rs1580658637
|
|
|
NM_001369.3(DNAH5):c.4278A>G (p.Val1426=)
|
rs1580658637
|
|
|
NM_001369.3(DNAH5):c.4281T>C (p.Asn1427=)
|
rs1357709385
|
|
|
NM_001369.3(DNAH5):c.4282_4295del (p.Tyr1429fs)
|
rs2546982589
|
|
|
NM_001369.3(DNAH5):c.4290T>A (p.Tyr1430Ter)
|
rs1769147841
|
|
|
NM_001369.3(DNAH5):c.4308G>A (p.Glu1436=)
|
rs2151910740
|
|
|
NM_001369.3(DNAH5):c.4339T>C (p.Leu1447=)
|
rs775328007
|
|
|
NM_001369.3(DNAH5):c.4353C>T (p.Asn1451=)
|
rs2151910642
|
|
|
NM_001369.3(DNAH5):c.4355+14T>A
|
rs2546982251
|
|
|
NM_001369.3(DNAH5):c.4355+18T>C
|
rs2546982236
|
|
|
NM_001369.3(DNAH5):c.4355+1del
|
rs1769138467
|
|
|
NM_001369.3(DNAH5):c.4355+8A>T
|
rs1769137400
|
|
|
NM_001369.3(DNAH5):c.4356-15G>A
|
rs773986737
|
|
|
NM_001369.3(DNAH5):c.4356-3_4356-2del
|
rs886038479
|
|
|
NM_001369.3(DNAH5):c.4356-4A>C
|
rs369128105
|
|
|
NM_001369.3(DNAH5):c.4356-4A>G
|
rs369128105
|
|
|
NM_001369.3(DNAH5):c.4365G>A (p.Lys1455=)
|
rs2151908906
|
|
|
NM_001369.3(DNAH5):c.4370C>T (p.Pro1457Leu)
|
rs1308493849
|
|
|
NM_001369.3(DNAH5):c.4373G>T (p.Arg1458Leu)
|
rs61747551
|
|
|
NM_001369.3(DNAH5):c.4373_4374delinsAT (p.Arg1458His)
|
rs1768954926
|
|
|
NM_001369.3(DNAH5):c.4375dup (p.Ala1459fs)
|
rs2151908870
|
|
|
NM_001369.3(DNAH5):c.4377del (p.Ala1459_Leu1460insTer)
|
rs2546979181
|
|
|
NM_001369.3(DNAH5):c.4378T>C (p.Leu1460=)
|
rs2546979171
|
|
|
NM_001369.3(DNAH5):c.438+10A>T
|
rs1232350879
|
|
|
NM_001369.3(DNAH5):c.438+5G>C
|
rs776343117
|
|
|
NM_001369.3(DNAH5):c.438+6G>A
|
rs2151997008
|
|
|
NM_001369.3(DNAH5):c.438+6G>C
|
rs2151997008
|
|
|
NM_001369.3(DNAH5):c.4389G>A (p.Trp1463Ter)
|
|
|
|
NM_001369.3(DNAH5):c.439-10T>C
|
rs2151995771
|
|
|
NM_001369.3(DNAH5):c.439-12C>T
|
rs1777403471
|
|
|
NM_001369.3(DNAH5):c.439-20A>G
|
rs2547156896
|
|
|
NM_001369.3(DNAH5):c.439-8T>C
|
rs2547156834
|
|
|
NM_001369.3(DNAH5):c.4392G>A (p.Gln1464=)
|
rs2151908827
|
|
|
NM_001369.3(DNAH5):c.4398T>C (p.Phe1466=)
|
rs2546979070
|
|
|
NM_001369.3(DNAH5):c.4400dup (p.Leu1467fs)
|
rs1252973555
|
|
|
NM_001369.3(DNAH5):c.4409A>G (p.Lys1470Arg)
|
rs746308685
|
|
|
NM_001369.3(DNAH5):c.4410G>A (p.Lys1470=)
|
rs960795516
|
|
|
NM_001369.3(DNAH5):c.4431C>A (p.Ser1477Arg)
|
rs74451896
|
|
|
NM_001369.3(DNAH5):c.443T>G (p.Val148Gly)
|
|
|
|
NM_001369.3(DNAH5):c.4442C>G (p.Pro1481Arg)
|
rs144958262
|
|
|
NM_001369.3(DNAH5):c.4442C>T (p.Pro1481Leu)
|
rs144958262
|
|
|
NM_001369.3(DNAH5):c.4459G>A (p.Ala1487Thr)
|
|
|
|
NM_001369.3(DNAH5):c.4461C>T (p.Ala1487=)
|
rs2151908691
|
|
|
NM_001369.3(DNAH5):c.4464T>C (p.Ser1488=)
|
rs2151908684
|
|
|
NM_001369.3(DNAH5):c.4469C>T (p.Ala1490Val)
|
rs1768942005
|
|
|
NM_001369.3(DNAH5):c.446G>A (p.Ser149Asn)
|
rs2547156783
|
|
|
NM_001369.3(DNAH5):c.4479G>A (p.Glu1493=)
|
rs747207334
|
|
|
NM_001369.3(DNAH5):c.4488G>A (p.Trp1496Ter)
|
rs2546978701
|
|
|
NM_001369.3(DNAH5):c.4499C>G (p.Thr1500Ser)
|
rs779232266
|
|
|
NM_001369.3(DNAH5):c.4505T>A (p.Leu1502His)
|
rs2546978621
|
|
|
NM_001369.3(DNAH5):c.4509C>G (p.Thr1503=)
|
rs138157585
|
|
|
NM_001369.3(DNAH5):c.4512G>T (p.Gly1504=)
|
|
|
|
NM_001369.3(DNAH5):c.4515_4516del (p.His1505fs)
|
rs2151908560
|
|
|
NM_001369.3(DNAH5):c.4521G>A (p.Leu1507=)
|
rs2151908548
|
|
|
NM_001369.3(DNAH5):c.4530G>C (p.Gly1510=)
|
rs2546978467
|
|
|
NM_001369.3(DNAH5):c.4530del (p.Asn1511fs)
|
rs1554082275
|
|
|
NM_001369.3(DNAH5):c.4533T>C (p.Asn1511=)
|
rs2151908506
|
|
|
NM_001369.3(DNAH5):c.4534_4535dup (p.Ser1513fs)
|
rs2546978451
|
|
|
NM_001369.3(DNAH5):c.4539C>A (p.Ser1513Arg)
|
|
|
|
NM_001369.3(DNAH5):c.4541_4559del (p.Phe1514fs)
|
rs2546978367
|
|
|
NM_001369.3(DNAH5):c.4545G>A (p.Lys1515=)
|
rs753819192
|
|
|
NM_001369.3(DNAH5):c.4546T>G (p.Leu1516Val)
|
rs1768927489
|
|
|
NM_001369.3(DNAH5):c.4550_4551insGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAG (p.Asn1518fs)
|
rs2151908470
|
|
|
NM_001369.3(DNAH5):c.4559T>C (p.Met1520Thr)
|
rs916516633
|
|
|
NM_001369.3(DNAH5):c.4561G>A (p.Glu1521Lys)
|
rs2546978362
|
|
|
NM_001369.3(DNAH5):c.4566A>C (p.Ala1522=)
|
rs775511692
|
|
|
NM_001369.3(DNAH5):c.4568C>T (p.Pro1523Leu)
|
rs759737050
|
|
|
NM_001369.3(DNAH5):c.4573C>T (p.Leu1525=)
|
rs771176698
|
|
|
NM_001369.3(DNAH5):c.457T>C (p.Leu153=)
|
rs2151995722
|
|
|
NM_001369.3(DNAH5):c.4594G>C (p.Glu1532Gln)
|
|
|
|
NM_001369.3(DNAH5):c.4596+12T>C
|
|
|
|
NM_001369.3(DNAH5):c.4596+14T>C
|
rs2546978188
|
|
|
NM_001369.3(DNAH5):c.4596+18G>A
|
|
|
|
NM_001369.3(DNAH5):c.4596+1G>T
|
rs2151908362
|
|
|
NM_001369.3(DNAH5):c.4596+20A>C
|
|
|
|
NM_001369.3(DNAH5):c.4596+8A>G
|
rs2546978196
|
|
|
NM_001369.3(DNAH5):c.4596+9T>C
|
rs2546978192
|
|
|
NM_001369.3(DNAH5):c.4597-12C>T
|
rs1768643592
|
|
|
NM_001369.3(DNAH5):c.4597-19G>A
|
rs370235912
|
|
|
NM_001369.3(DNAH5):c.4597-19G>T
|
rs370235912
|
|
|
NM_001369.3(DNAH5):c.4597-1G>T
|
rs2151905981
|
|
|
NM_001369.3(DNAH5):c.4597-2A>T
|
rs756687157
|
|
|
NM_001369.3(DNAH5):c.4597-2del
|
rs2546974224
|
|
|
NM_001369.3(DNAH5):c.4597-4A>G
|
rs1303145836
|
|
|
NM_001369.3(DNAH5):c.459A>G (p.Leu153=)
|
rs1382955783
|
|
|
NM_001369.3(DNAH5):c.4605dup (p.Ile1536fs)
|
rs864622512
|
|
|
NM_001369.3(DNAH5):c.4612_4613insATGAAAGAGAGAGACATTGTAT (p.Ala1538fs)
|
rs2546974166
|
|
|
NM_001369.3(DNAH5):c.4619_4622del (p.Lys1540fs)
|
rs2151905927
|
|
|
NM_001369.3(DNAH5):c.461A>C (p.Asp154Ala)
|
|
|
|
NM_001369.3(DNAH5):c.4622A>G (p.Glu1541Gly)
|
rs2546974118
|
|
|
NM_001369.3(DNAH5):c.4623G>A (p.Glu1541=)
|
rs2151905923
|
|
|
NM_001369.3(DNAH5):c.4625_4628del (p.Arg1542fs)
|
rs764262032
|
|
|
NM_001369.3(DNAH5):c.4627_4628del (p.Asp1543fs)
|
rs764262032
|
|
|
NM_001369.3(DNAH5):c.4636C>T (p.Gln1546Ter)
|
rs1344601147
|
|
|
NM_001369.3(DNAH5):c.4648C>T (p.Gln1550Ter)
|
rs2546974004
|
|
|
NM_001369.3(DNAH5):c.4650A>G (p.Gln1550=)
|
rs1768634103
|
|
|
NM_001369.3(DNAH5):c.4659T>C (p.Asn1553=)
|
rs1768632303
|
|
|
NM_001369.3(DNAH5):c.4664G>A (p.Trp1555Ter)
|
rs752620318
|
|
|
NM_001369.3(DNAH5):c.4668C>T (p.Asp1556=)
|
rs2151905825
|
|
|
NM_001369.3(DNAH5):c.4669A>G (p.Asn1557Asp)
|
rs767321919
|
|
|
NM_001369.3(DNAH5):c.4677A>G (p.Thr1559=)
|
rs919108956
|
|
|
NM_001369.3(DNAH5):c.468A>T (p.Ala156=)
|
rs1419297529
|
|
|
NM_001369.3(DNAH5):c.4695del (p.Phe1565fs)
|
rs2151905765
|
|
|
NM_001369.3(DNAH5):c.4701C>G (p.Thr1567=)
|
rs2546973762
|
|
|
NM_001369.3(DNAH5):c.4702del (p.Arg1568fs)
|
rs1554081658
|
|
|
NM_001369.3(DNAH5):c.471T>C (p.Asp157=)
|
rs1777397626
|
|
|
NM_001369.3(DNAH5):c.4732A>G (p.Thr1578Ala)
|
|
|
|
NM_001369.3(DNAH5):c.4743C>A (p.Ile1581=)
|
rs1334724006
|
|
|
NM_001369.3(DNAH5):c.4748C>A (p.Ala1583Asp)
|
rs2546973378
|
|
|
NM_001369.3(DNAH5):c.4752C>T (p.Asn1584=)
|
rs1403380145
|
|
|
NM_001369.3(DNAH5):c.4753A>G (p.Met1585Val)
|
rs1580641242
|
|
|
NM_001369.3(DNAH5):c.4773G>A (p.Leu1591=)
|
rs970151715
|
|
|
NM_001369.3(DNAH5):c.4776G>A (p.Leu1592=)
|
|
|
|
NM_001369.3(DNAH5):c.4782C>G (p.Ser1594=)
|
rs758663096
|
|
|
NM_001369.3(DNAH5):c.4785A>G (p.Leu1595=)
|
rs2546973237
|
|
|
NM_001369.3(DNAH5):c.4786C>T (p.Leu1596=)
|
rs2151905567
|
|
|
NM_001369.3(DNAH5):c.4786_4789del (p.Leu1596fs)
|
rs2151905556
|
|
|
NM_001369.3(DNAH5):c.4788G>A (p.Leu1596=)
|
rs2151905559
|
|
|
NM_001369.3(DNAH5):c.478C>T (p.Leu160=)
|
rs774933842
|
|
|
NM_001369.3(DNAH5):c.4792_4796+10del
|
rs2546973147
|
|
|
NM_001369.3(DNAH5):c.4796+16A>G
|
rs965699046
|
|
|
NM_001369.3(DNAH5):c.4796+1G>A
|
rs989235687
|
|
|
NM_001369.3(DNAH5):c.4796+7A>G
|
rs2151905538
|
|
|
NM_001369.3(DNAH5):c.4797-12T>A
|
rs753846579
|
|
|
NM_001369.3(DNAH5):c.4797-12T>G
|
rs753846579
|
|
|
NM_001369.3(DNAH5):c.4797-13T>G
|
rs1356734218
|
|
|
NM_001369.3(DNAH5):c.4797-16C>A
|
rs779002901
|
|
|
NM_001369.3(DNAH5):c.4797-17C>T
|
rs1344032934
|
|
|
NM_001369.3(DNAH5):c.4797-1G>C
|
rs1561449604
|
|
|
NM_001369.3(DNAH5):c.4797-9T>C
|
rs1237033985
|
|
|
NM_001369.3(DNAH5):c.47G>A (p.Arg16Gln)
|
rs778890170
|
|
|
NM_001369.3(DNAH5):c.4805T>C (p.Met1602Thr)
|
rs767821520
|
|
|
NM_001369.3(DNAH5):c.480G>A (p.Leu160=)
|
rs2151995671
|
|
|
NM_001369.3(DNAH5):c.4812C>T (p.Phe1604=)
|
rs2546965860
|
|
|
NM_001369.3(DNAH5):c.4818C>T (p.Ala1606=)
|
rs1561449438
|
|
|
NM_001369.3(DNAH5):c.4824T>A (p.Ile1608=)
|
rs1016408037
|
|
|
NM_001369.3(DNAH5):c.4824T>C (p.Ile1608=)
|
rs1016408037
|
|
|
NM_001369.3(DNAH5):c.4830A>G (p.Lys1610=)
|
rs770184036
|
|
|
NM_001369.3(DNAH5):c.483C>T (p.Leu161=)
|
rs2547156547
|
|
|
NM_001369.3(DNAH5):c.4858G>C (p.Asp1620His)
|
|
|
|
NM_001369.3(DNAH5):c.4866C>A (p.Ile1622=)
|
rs777697449
|
|
|
NM_001369.3(DNAH5):c.4866C>G (p.Ile1622Met)
|
rs777697449
|
|
|
NM_001369.3(DNAH5):c.486C>T (p.Asn162=)
|
rs2547156531
|
|
|
NM_001369.3(DNAH5):c.4875G>C (p.Trp1625Cys)
|
rs2546965486
|
|
|
NM_001369.3(DNAH5):c.4893G>A (p.Leu1631=)
|
rs2151899831
|
|
|
NM_001369.3(DNAH5):c.489T>C (p.Ser163=)
|
rs1580903831
|
|
|
NM_001369.3(DNAH5):c.4911T>C (p.Ala1637=)
|
rs1183245932
|
|
|
NM_001369.3(DNAH5):c.4914C>A (p.Val1638=)
|
rs2151899789
|
|
|
NM_001369.3(DNAH5):c.4916T>C (p.Phe1639Ser)
|
rs1768079158
|
|
|
NM_001369.3(DNAH5):c.492G>A (p.Val164=)
|
|
|
|
NM_001369.3(DNAH5):c.4932T>C (p.Ile1644=)
|
rs1449066022
|
|
|
NM_001369.3(DNAH5):c.4936A>T (p.Lys1646Ter)
|
rs775506164
|
|
|
NM_001369.3(DNAH5):c.4942C>T (p.Leu1648=)
|
rs2546965126
|
|
|
NM_001369.3(DNAH5):c.4947C>A (p.Pro1649=)
|
rs1768073716
|
|
|
NM_001369.3(DNAH5):c.4950+13T>A
|
rs2546965058
|
|
|
NM_001369.3(DNAH5):c.4950+14_4950+16del
|
rs1193152792
|
|
|
NM_001369.3(DNAH5):c.4950+17del
|
rs1452657014
|
|
|
NM_001369.3(DNAH5):c.4950+18A>G
|
rs2546965019
|
|
|
NM_001369.3(DNAH5):c.4950G>A (p.Lys1650=)
|
rs1768073068
|
|
|
NM_001369.3(DNAH5):c.4951-17T>C
|
rs2546943085
|
|
|
NM_001369.3(DNAH5):c.4951-4A>C
|
rs1181975457
|
|
|
NM_001369.3(DNAH5):c.4951-4A>T
|
rs1181975457
|
|
|
NM_001369.3(DNAH5):c.4951-5C>T
|
rs2151884041
|
|
|
NM_001369.3(DNAH5):c.4956C>T (p.Ala1652=)
|
rs2546943014
|
|
|
NM_001369.3(DNAH5):c.4958A>G (p.Lys1653Arg)
|
|
|
|
NM_001369.3(DNAH5):c.4959G>C (p.Lys1653Asn)
|
rs1207203971
|
|
|
NM_001369.3(DNAH5):c.4960C>A (p.Arg1654=)
|
rs139364454
|
|
|
NM_001369.3(DNAH5):c.4966del (p.Ser1656fs)
|
rs772381070
|
|
|
NM_001369.3(DNAH5):c.4971C>T (p.Asn1657=)
|
rs1484857879
|
|
|
NM_001369.3(DNAH5):c.4989G>A (p.Val1663=)
|
rs2151883916
|
|
|
NM_001369.3(DNAH5):c.4990A>C (p.Lys1664Gln)
|
|
|
|
NM_001369.3(DNAH5):c.5004G>A (p.Arg1668=)
|
rs2546942621
|
|
|
NM_001369.3(DNAH5):c.5005del (p.Ala1669fs)
|
|
|
|
NM_001369.3(DNAH5):c.5007A>G (p.Ala1669=)
|
rs755070627
|
|
|
NM_001369.3(DNAH5):c.5010T>C (p.His1670=)
|
rs2151883846
|
|
|
NM_001369.3(DNAH5):c.501G>A (p.Leu167=)
|
rs2151995644
|
|
|
NM_001369.3(DNAH5):c.5021G>T (p.Ser1674Ile)
|
rs1024785789
|
|
|
NM_001369.3(DNAH5):c.5022T>A (p.Ser1674Arg)
|
rs758627759
|
|
|
NM_001369.3(DNAH5):c.5024T>C (p.Val1675Ala)
|
rs2151883811
|
|
|
NM_001369.3(DNAH5):c.5031G>A (p.Gln1677=)
|
rs1766718203
|
|
|
NM_001369.3(DNAH5):c.5034C>T (p.Cys1678=)
|
rs2546942284
|
|
|
NM_001369.3(DNAH5):c.5037T>A (p.Cys1679Ter)
|
rs1580578744
|
|
|
NM_001369.3(DNAH5):c.504G>C (p.Leu168=)
|
rs770818155
|
|
|
NM_001369.3(DNAH5):c.5052C>G (p.Thr1684=)
|
rs1284303765
|
|
|
NM_001369.3(DNAH5):c.5053C>A (p.Leu1685Met)
|
|
|
|
NM_001369.3(DNAH5):c.5055G>A (p.Leu1685=)
|
rs1300753835
|
|
|
NM_001369.3(DNAH5):c.5058G>A (p.Gly1686=)
|
rs2546942072
|
|
|
NM_001369.3(DNAH5):c.5059C>T (p.Gln1687Ter)
|
rs1188507108
|
|
|
NM_001369.3(DNAH5):c.5064G>A (p.Leu1688=)
|
rs2546942033
|
|
|
NM_001369.3(DNAH5):c.506C>A (p.Ser169Ter)
|
rs749078502
|
|
|
NM_001369.3(DNAH5):c.5070A>G (p.Pro1690=)
|
rs2151883662
|
|
|
NM_001369.3(DNAH5):c.5076G>A (p.Leu1692=)
|
rs2546941960
|
|
|
NM_001369.3(DNAH5):c.5082C>T (p.Asp1694=)
|
rs2151883638
|
|
|
NM_001369.3(DNAH5):c.5085G>A (p.Gln1695=)
|
|
|
|
NM_001369.3(DNAH5):c.5105C>T (p.Ser1702Phe)
|
|
|
|
NM_001369.3(DNAH5):c.5111C>A (p.Thr1704Asn)
|
rs1427029408
|
|
|
NM_001369.3(DNAH5):c.5112T>C (p.Thr1704=)
|
rs1766705445
|
|
|
NM_001369.3(DNAH5):c.5114+15T>C
|
rs2546941710
|
|
|
NM_001369.3(DNAH5):c.5114+16C>G
|
rs1766701550
|
|
|
NM_001369.3(DNAH5):c.5114+18T>G
|
rs1766701129
|
|
|
NM_001369.3(DNAH5):c.5114+19T>C
|
rs2546941685
|
|
|
NM_001369.3(DNAH5):c.5114+1G>A
|
rs878854457
|
|
|
NM_001369.3(DNAH5):c.5115-14del
|
rs774650371
|
|
|
NM_001369.3(DNAH5):c.5115-21_5115-20del
|
rs746385698
|
|
|
NM_001369.3(DNAH5):c.5115-5_5115-4delinsCC
|
rs2151870553
|
|
|
NM_001369.3(DNAH5):c.5115-5_5115-4inv
|
|
|
|
NM_001369.3(DNAH5):c.5115-6T>C
|
rs2546923553
|
|
|
NM_001369.3(DNAH5):c.5115-7C>G
|
rs2546923573
|
|
|
NM_001369.3(DNAH5):c.5115-8C>T
|
rs2546923588
|
|
|
NM_001369.3(DNAH5):c.5118C>G (p.Tyr1706Ter)
|
rs1554074565
|
|
|
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.5130A>C (p.Lys1710Asn)
|
rs2546923403
|
|
|
NM_001369.3(DNAH5):c.5130dup (p.Arg1711fs)
|
rs1580543863
|
|
|
NM_001369.3(DNAH5):c.5131C>A (p.Arg1711=)
|
rs760869074
|
|
|
NM_001369.3(DNAH5):c.5131C>T (p.Arg1711Ter)
|
rs760869074
|
|
|
NM_001369.3(DNAH5):c.5135del (p.Leu1712fs)
|
rs2546923353
|
|
|
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.5147G>C (p.Arg1716Pro)
|
rs74799487
|
|
|
NM_001369.3(DNAH5):c.5147G>T (p.Arg1716Leu)
|
rs74799487
|
|
|
NM_001369.3(DNAH5):c.5154dup (p.Phe1719fs)
|
rs2546923148
|
|
|
NM_001369.3(DNAH5):c.5158G>C (p.Val1720Leu)
|
rs778341195
|
|
|
NM_001369.3(DNAH5):c.5160C>G (p.Val1720=)
|
rs2546923122
|
|
|
NM_001369.3(DNAH5):c.5162C>G (p.Ser1721Ter)
|
rs1580543538
|
|
|
NM_001369.3(DNAH5):c.5162C>T (p.Ser1721Leu)
|
|
|
|
NM_001369.3(DNAH5):c.516C>T (p.Phe172=)
|
rs748394144
|
|
|
NM_001369.3(DNAH5):c.5184T>C (p.Ile1728=)
|
rs757238778
|
|
|
NM_001369.3(DNAH5):c.5187G>A (p.Leu1729=)
|
rs2151870268
|
|
|
NM_001369.3(DNAH5):c.5193G>A (p.Gln1731=)
|
rs2546922947
|
|
|
NM_001369.3(DNAH5):c.5196G>A (p.Ala1732=)
|
rs201484389
|
|
|
NM_001369.3(DNAH5):c.5196G>C (p.Ala1732=)
|
rs201484389
|
|
|
NM_001369.3(DNAH5):c.5198C>A (p.Ser1733Ter)
|
rs146087064
|
|
|
NM_001369.3(DNAH5):c.5202del (p.Ser1735fs)
|
rs2546922856
|
|
|
NM_001369.3(DNAH5):c.5206C>A (p.His1736Asn)
|
rs759697461
|
|
|
NM_001369.3(DNAH5):c.5212A>C (p.Ile1738Leu)
|
rs1765756588
|
|
|
NM_001369.3(DNAH5):c.5218G>T (p.Ala1740Ser)
|
rs774945392
|
|
|
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.5221del (p.His1741fs)
|
rs2546922682
|
|
|
NM_001369.3(DNAH5):c.5223T>C (p.His1741=)
|
rs2546922641
|
|
|
NM_001369.3(DNAH5):c.522T>G (p.Pro174=)
|
rs941906716
|
|
|
NM_001369.3(DNAH5):c.5235G>C (p.Val1745=)
|
rs2546922537
|
|
|
NM_001369.3(DNAH5):c.5244del (p.Asn1748fs)
|
rs2151870091
|
|
|
NM_001369.3(DNAH5):c.5245A>G (p.Ile1749Val)
|
rs1423005409
|
|
|
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.5252C>A (p.Ser1751Tyr)
|
rs2151870055
|
|
|
NM_001369.3(DNAH5):c.5257A>G (p.Lys1753Glu)
|
|
|
|
NM_001369.3(DNAH5):c.525T>C (p.Ala175=)
|
rs1326160674
|
|
|
NM_001369.3(DNAH5):c.5262C>G (p.Phe1754Leu)
|
rs1765751014
|
|
|
NM_001369.3(DNAH5):c.5266G>T (p.Glu1756Ter)
|
rs116524991
|
|
|
NM_001369.3(DNAH5):c.5268A>G (p.Glu1756=)
|
rs2546922338
|
|
|
NM_001369.3(DNAH5):c.5271+11T>G
|
rs2546922237
|
|
|
NM_001369.3(DNAH5):c.5271+16A>G
|
rs2546922220
|
|
|
NM_001369.3(DNAH5):c.5271+1G>T
|
rs1288777017
|
|
|
NM_001369.3(DNAH5):c.5271+5G>A
|
rs749394641
|
|
|
NM_001369.3(DNAH5):c.5271+8T>C
|
rs2546922258
|
|
|
NM_001369.3(DNAH5):c.5271+9A>G
|
rs752898848
|
|
|
NM_001369.3(DNAH5):c.5271G>T (p.Lys1757Asn)
|
rs1293906490
|
|
|
NM_001369.3(DNAH5):c.5272-10T>C
|
rs755224655
|
|
|
NM_001369.3(DNAH5):c.5272-12T>A
|
rs2546912259
|
|
|
NM_001369.3(DNAH5):c.5272-13dup
|
rs886059980
|
|
|
NM_001369.3(DNAH5):c.5272-14G>C
|
rs866255992
|
|
|
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.5272-17_5272-15dup
|
rs35337694
|
|
|
NM_001369.3(DNAH5):c.5272-18T>C
|
rs2546912443
|
|
|
NM_001369.3(DNAH5):c.5272-1G>A
|
rs1765221562
|
|
|
NM_001369.3(DNAH5):c.5272-4A>G
|
rs569920273
|
|
|
NM_001369.3(DNAH5):c.5272-5C>T
|
rs537208651
|
|
|
NM_001369.3(DNAH5):c.5272-8del
|
|
|
|
NM_001369.3(DNAH5):c.5272-8dup
|
rs886059979
|
|
|
NM_001369.3(DNAH5):c.5272-9C>T
|
rs555481241
|
|
|
NM_001369.3(DNAH5):c.5274C>A (p.Ile1758=)
|
rs2151862148
|
|
|
NM_001369.3(DNAH5):c.5274C>T (p.Ile1758=)
|
rs2151862148
|
|
|
NM_001369.3(DNAH5):c.5281C>A (p.Arg1761=)
|
rs148891849
|
|
|
NM_001369.3(DNAH5):c.5281C>T (p.Arg1761Ter)
|
rs148891849
|
|
|
NM_001369.3(DNAH5):c.5310T>C (p.Gly1770=)
|
rs2151861984
|
|
|
NM_001369.3(DNAH5):c.5315C>G (p.Thr1772Arg)
|
rs754845694
|
|
|
NM_001369.3(DNAH5):c.5319T>A (p.Ile1773=)
|
rs2546911814
|
|
|
NM_001369.3(DNAH5):c.5326del (p.Asp1776fs)
|
rs2546911765
|
|
|
NM_001369.3(DNAH5):c.5332C>G (p.Pro1778Ala)
|
rs1765209467
|
|
|
NM_001369.3(DNAH5):c.5338A>T (p.Met1780Leu)
|
rs369482173
|
|
|
NM_001369.3(DNAH5):c.5344del (p.Glu1782fs)
|
rs2151861909
|
|
|
NM_001369.3(DNAH5):c.5346G>A (p.Glu1782=)
|
rs762203894
|
|
|
NM_001369.3(DNAH5):c.5347G>A (p.Gly1783Ser)
|
|
|
|
NM_001369.3(DNAH5):c.5361T>C (p.Val1787=)
|
rs2546911462
|
|
|
NM_001369.3(DNAH5):c.5367T>G (p.Leu1789=)
|
rs2546911429
|
|
|
NM_001369.3(DNAH5):c.5373T>C (p.Ser1791=)
|
rs1334042443
|
|
|
NM_001369.3(DNAH5):c.537G>C (p.Thr179=)
|
|
|
|
NM_001369.3(DNAH5):c.5382A>G (p.Glu1794=)
|
rs1765200915
|
|
|
NM_001369.3(DNAH5):c.5387C>G (p.Ser1796Cys)
|
|
|
|
NM_001369.3(DNAH5):c.5389C>T (p.Gln1797Ter)
|
rs2546911328
|
|
|
NM_001369.3(DNAH5):c.5391G>A (p.Gln1797=)
|
rs2546911309
|
|
|
NM_001369.3(DNAH5):c.5392T>C (p.Ser1798Pro)
|
rs1060501468
|
|
|
NM_001369.3(DNAH5):c.5396C>T (p.Ser1799Leu)
|
rs727503903
|
|
|
NM_001369.3(DNAH5):c.5399T>A (p.Leu1800Ter)
|
rs1580524265
|
|
|
NM_001369.3(DNAH5):c.5399T>C (p.Leu1800Ser)
|
rs1580524265
|
|
|
NM_001369.3(DNAH5):c.5409G>A (p.Val1803=)
|
rs2151861778
|
|
|
NM_001369.3(DNAH5):c.540C>T (p.Ser180=)
|
rs2151995559
|
|
|
NM_001369.3(DNAH5):c.5414G>A (p.Arg1805His)
|
|
|
|
NM_001369.3(DNAH5):c.5424del (p.Ala1809fs)
|
rs2546911114
|
|
|
NM_001369.3(DNAH5):c.5434del (p.Gln1812fs)
|
rs2151861729
|
|
|
NM_001369.3(DNAH5):c.5439A>T (p.Glu1813Asp)
|
rs754274080
|
|
|
NM_001369.3(DNAH5):c.5442A>G (p.Thr1814=)
|
rs2546911003
|
|
|
NM_001369.3(DNAH5):c.5442A>T (p.Thr1814=)
|
rs2546911003
|
|
|
NM_001369.3(DNAH5):c.5454A>G (p.Leu1818=)
|
rs2151861677
|
|
|
NM_001369.3(DNAH5):c.5460A>G (p.Glu1820=)
|
rs2151861668
|
|
|
NM_001369.3(DNAH5):c.5469A>G (p.Ser1823=)
|
rs2546910878
|
|
|
NM_001369.3(DNAH5):c.5481T>G (p.Ala1827=)
|
rs2546910828
|
|
|
NM_001369.3(DNAH5):c.5482C>T (p.Gln1828Ter)
|
rs1354919632
|
|
|
NM_001369.3(DNAH5):c.5484+10T>A
|
rs564286425
|
|
|
NM_001369.3(DNAH5):c.5484+20A>G
|
rs376520355
|
|
|
NM_001369.3(DNAH5):c.5484+9A>G
|
rs2546910791
|
|
|
NM_001369.3(DNAH5):c.5485-12T>C
|
rs2546908952
|
|
|
NM_001369.3(DNAH5):c.5485-18C>T
|
rs2546908973
|
|
|
NM_001369.3(DNAH5):c.5485-19C>A
|
rs1765103342
|
|
|
NM_001369.3(DNAH5):c.5485-19C>G
|
rs1765103342
|
|
|
NM_001369.3(DNAH5):c.5485-1G>A
|
|
|
|
NM_001369.3(DNAH5):c.5485-1G>T
|
rs1765101106
|
|
|
NM_001369.3(DNAH5):c.5485-2A>T
|
rs2151860622
|
|
|
NM_001369.3(DNAH5):c.5485-6C>T
|
rs2546908932
|
|
|
NM_001369.3(DNAH5):c.5485-8T>C
|
rs2546908939
|
|
|
NM_001369.3(DNAH5):c.5490A>T (p.Gly1830=)
|
rs2546908888
|
|
|
NM_001369.3(DNAH5):c.5492T>C (p.Leu1831Ser)
|
|
|
|
NM_001369.3(DNAH5):c.5496A>G (p.Leu1832=)
|
rs2151860590
|
|
|
NM_001369.3(DNAH5):c.54_57+5del
|
rs2547213808
|
|
|
NM_001369.3(DNAH5):c.5509A>C (p.Ile1837Leu)
|
rs2151860552
|
|
|
NM_001369.3(DNAH5):c.5517A>G (p.Thr1839=)
|
rs2546908796
|
|
|
NM_001369.3(DNAH5):c.552C>G (p.Gly184=)
|
rs755707971
|
|
|
NM_001369.3(DNAH5):c.5532dup (p.Ala1845fs)
|
rs2151860521
|
|
|
NM_001369.3(DNAH5):c.5553T>G (p.Phe1851Leu)
|
rs2546908603
|
|
|
NM_001369.3(DNAH5):c.5563dup (p.Ile1855fs)
|
rs752925056
|
|
|
NM_001369.3(DNAH5):c.556C>A (p.Leu186Ile)
|
rs1554104341
|
|
|
NM_001369.3(DNAH5):c.5576_5582dup (p.Gln1861delinsHisTer)
|
rs2151860358
|
|
|
NM_001369.3(DNAH5):c.5577T>G (p.Thr1859=)
|
rs2151860373
|
|
|
NM_001369.3(DNAH5):c.5578A>G (p.Asn1860Asp)
|
rs751944938
|
|
|
NM_001369.3(DNAH5):c.5582A>C (p.Gln1861Pro)
|
rs780320440
|
|
|
NM_001369.3(DNAH5):c.5588del (p.Phe1863fs)
|
rs2151860332
|
|
|
NM_001369.3(DNAH5):c.558C>A (p.Leu186=)
|
rs145895917
|
|
|
NM_001369.3(DNAH5):c.5598A>G (p.Leu1866=)
|
rs2546908278
|
|
|
NM_001369.3(DNAH5):c.559G>T (p.Glu187Ter)
|
rs759059925
|
|
|
NM_001369.3(DNAH5):c.5601C>T (p.Leu1867=)
|
rs2151860302
|
|
|
NM_001369.3(DNAH5):c.5601_5604dup (p.Thr1869fs)
|
rs2546908228
|
|
|
NM_001369.3(DNAH5):c.5604T>C (p.Asn1868=)
|
rs2546908220
|
|
|
NM_001369.3(DNAH5):c.5607A>G (p.Thr1869=)
|
rs2151860270
|
|
|
NM_001369.3(DNAH5):c.5608T>C (p.Leu1870=)
|
rs763656985
|
|
|
NM_001369.3(DNAH5):c.561G>C (p.Glu187Asp)
|
rs2547155970
|
|
|
NM_001369.3(DNAH5):c.5622C>T (p.Thr1874=)
|
rs759459740
|
|
|
NM_001369.3(DNAH5):c.5629G>A (p.Asp1877Asn)
|
|
|
|
NM_001369.3(DNAH5):c.5643G>C (p.Thr1881=)
|
rs150429110
|
|
|
NM_001369.3(DNAH5):c.5649A>G (p.Arg1883=)
|
rs1765074628
|
|
|
NM_001369.3(DNAH5):c.5658C>G (p.Tyr1886Ter)
|
rs6880264
|
|
|
NM_001369.3(DNAH5):c.5659G>T (p.Glu1887Ter)
|
rs1179042084
|
|
|
NM_001369.3(DNAH5):c.5665_5666del (p.Leu1889fs)
|
rs767779749
|
|
|
NM_001369.3(DNAH5):c.5669T>C (p.Ile1890Thr)
|
rs1765070718
|
|
|
NM_001369.3(DNAH5):c.566T>C (p.Leu189Pro)
|
rs1777384254
|
|
|
NM_001369.3(DNAH5):c.5676T>C (p.Ile1892=)
|
rs144828347
|
|
|
NM_001369.3(DNAH5):c.567T>C (p.Leu189=)
|
rs2151995493
|
|
|
NM_001369.3(DNAH5):c.57+13T>C
|
|
|
|
NM_001369.3(DNAH5):c.57+14G>A
|
rs756464306
|
|
|
NM_001369.3(DNAH5):c.57+16C>T
|
rs1779741111
|
|
|
NM_001369.3(DNAH5):c.57+18G>A
|
rs2547213749
|
|
|
NM_001369.3(DNAH5):c.5706C>T (p.Asp1902=)
|
rs377747035
|
|
|
NM_001369.3(DNAH5):c.5709+17T>C
|
|
|
|
NM_001369.3(DNAH5):c.5710-10T>C
|
rs2546903497
|
|
|
NM_001369.3(DNAH5):c.5710-15C>G
|
|
|
|
NM_001369.3(DNAH5):c.5710-17T>C
|
rs2546903540
|
|
|
NM_001369.3(DNAH5):c.5710-19T>G
|
rs2151857572
|
|
|
NM_001369.3(DNAH5):c.5710-6T>A
|
rs2546903479
|
|
|
NM_001369.3(DNAH5):c.5710-7A>T
|
rs2151857536
|
|
|
NM_001369.3(DNAH5):c.5712T>C (p.Cys1904=)
|
rs2151857507
|
|
|
NM_001369.3(DNAH5):c.5715T>C (p.His1905=)
|
rs1236115871
|
|
|
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.5754A>G (p.Lys1918=)
|
rs1213228715
|
|
|
NM_001369.3(DNAH5):c.5757del (p.Gln1919fs)
|
rs1764868213
|
|
|
NM_001369.3(DNAH5):c.5758T>G (p.Cys1920Gly)
|
|
|
|
NM_001369.3(DNAH5):c.5769C>G (p.Tyr1923Ter)
|
rs2151857318
|
|
|
NM_001369.3(DNAH5):c.5775C>T (p.Asn1925=)
|
rs112389411
|
|
|
NM_001369.3(DNAH5):c.5778A>G (p.Glu1926=)
|
rs2546903075
|
|
|
NM_001369.3(DNAH5):c.5785G>C (p.Asp1929His)
|
rs1554072085
|
|
|
NM_001369.3(DNAH5):c.5787C>T (p.Asp1929=)
|
rs2151857268
|
|
|
NM_001369.3(DNAH5):c.5789A>G (p.Lys1930Arg)
|
|
|
|
NM_001369.3(DNAH5):c.5790GAT[2] (p.Met1932del)
|
rs2546902996
|
|
|
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.58-19T>C
|
|
|
|
NM_001369.3(DNAH5):c.58-1G>A
|
rs1778386695
|
|
|
NM_001369.3(DNAH5):c.58-7C>T
|
rs976389334
|
|
|
NM_001369.3(DNAH5):c.58-7_58-3del
|
rs1778387346
|
|
|
NM_001369.3(DNAH5):c.581del (p.Asn194fs)
|
rs2547155871
|
|
|
NM_001369.3(DNAH5):c.5821A>G (p.Ile1941Val)
|
rs754033261
|
|
|
NM_001369.3(DNAH5):c.5824T>A (p.Tyr1942Asn)
|
rs764206378
|
|
|
NM_001369.3(DNAH5):c.5827C>T (p.Gln1943Ter)
|
rs2151857133
|
|
|
NM_001369.3(DNAH5):c.5829G>A (p.Gln1943=)
|
rs2151857128
|
|
|
NM_001369.3(DNAH5):c.582C>T (p.Asn194=)
|
rs2151995460
|
|
|
NM_001369.3(DNAH5):c.5838T>C (p.Phe1946=)
|
rs2151857094
|
|
|
NM_001369.3(DNAH5):c.5844C>T (p.Gly1948=)
|
rs2151857081
|
|
|
NM_001369.3(DNAH5):c.5846G>A (p.Cys1949Tyr)
|
rs1764854434
|
|
|
NM_001369.3(DNAH5):c.5852A>G (p.Asp1951Gly)
|
|
|
|
NM_001369.3(DNAH5):c.5853C>T (p.Asp1951=)
|
rs1475309331
|
|
|
NM_001369.3(DNAH5):c.585T>A (p.Ile195=)
|
rs2547155844
|
|
|
NM_001369.3(DNAH5):c.5866dup (p.Thr1956fs)
|
rs2546902630
|
|
|
NM_001369.3(DNAH5):c.5871A>G (p.Pro1957=)
|
rs1764851174
|
|
|
NM_001369.3(DNAH5):c.5874T>G (p.Leu1958=)
|
rs2546902591
|
|
|
NM_001369.3(DNAH5):c.5880C>T (p.Asp1960=)
|
rs1764848840
|
|
|
NM_001369.3(DNAH5):c.5881dup (p.Arg1961fs)
|
rs1554072027
|
|
|
NM_001369.3(DNAH5):c.5882+11C>G
|
rs1043933492
|
|
|
NM_001369.3(DNAH5):c.5882+11C>T
|
rs1043933492
|
|
|
NM_001369.3(DNAH5):c.5882+13T>C
|
rs2546902468
|
|
|
NM_001369.3(DNAH5):c.5882+15C>T
|
|
|
|
NM_001369.3(DNAH5):c.5882+16T>C
|
rs1580511407
|
|
|
NM_001369.3(DNAH5):c.5882+9A>G
|
rs2546902494
|
|
|
NM_001369.3(DNAH5):c.5883-18A>G
|
rs2546882620
|
|
|
NM_001369.3(DNAH5):c.5883-1G>C
|
rs1195745037
|
|
|
NM_001369.3(DNAH5):c.5883-2A>C
|
rs1580465796
|
|
|
NM_001369.3(DNAH5):c.5883-6del
|
rs2151838387
|
|
|
NM_001369.3(DNAH5):c.5883-9C>A
|
rs1404707187
|
|
|
NM_001369.3(DNAH5):c.5889C>T (p.Tyr1963=)
|
rs2151838342
|
|
|
NM_001369.3(DNAH5):c.5890_5894dup (p.Leu1966fs)
|
rs1436141222
|
|
|
NM_001369.3(DNAH5):c.5894C>G (p.Thr1965Arg)
|
|
|
|
NM_001369.3(DNAH5):c.5895G>T (p.Thr1965=)
|
rs537016848
|
|
|
NM_001369.3(DNAH5):c.5898G>A (p.Leu1966=)
|
rs2546882488
|
|
|
NM_001369.3(DNAH5):c.5901T>A (p.Ala1967=)
|
rs2151838295
|
|
|
NM_001369.3(DNAH5):c.5902C>T (p.Gln1968Ter)
|
rs775125740
|
|
|
NM_001369.3(DNAH5):c.5918G>A (p.Ser1973Asn)
|
rs2546882379
|
|
|
NM_001369.3(DNAH5):c.591G>A (p.Gln197=)
|
rs2547155800
|
|
|
NM_001369.3(DNAH5):c.5922G>T (p.Met1974Ile)
|
|
|
|
NM_001369.3(DNAH5):c.5924G>C (p.Gly1975Ala)
|
rs781581283
|
|
|
NM_001369.3(DNAH5):c.5926G>T (p.Gly1976Ter)
|
rs751690064
|
|
|
NM_001369.3(DNAH5):c.5927del (p.Gly1976fs)
|
rs1233412023
|
|
|
NM_001369.3(DNAH5):c.5928A>T (p.Gly1976=)
|
rs1172789153
|
|
|
NM_001369.3(DNAH5):c.5928del (p.Ala1977fs)
|
rs2546882292
|
|
|
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.5937T>G (p.Ala1979=)
|
rs2151838128
|
|
|
NM_001369.3(DNAH5):c.594G>C (p.Glu198Asp)
|
rs769718109
|
|
|
NM_001369.3(DNAH5):c.5953_5954del (p.Gly1985fs)
|
rs2151838095
|
|
|
NM_001369.3(DNAH5):c.5961A>G (p.Thr1987=)
|
rs2546882127
|
|
|
NM_001369.3(DNAH5):c.5967C>T (p.Thr1989=)
|
rs1179920146
|
|
|
NM_001369.3(DNAH5):c.5970T>G (p.Thr1990=)
|
rs767150989
|
|
|
NM_001369.3(DNAH5):c.597C>T (p.Phe199=)
|
rs2151995433
|
|
|
NM_001369.3(DNAH5):c.5987_5998del (p.Cys1996_Lys1999del)
|
rs2546881907
|
|
|
NM_001369.3(DNAH5):c.5989C>T (p.Leu1997Phe)
|
rs2546881989
|
|
|
NM_001369.3(DNAH5):c.5994G>C (p.Gly1998=)
|
rs1171499406
|
|
|
NM_001369.3(DNAH5):c.5999dup (p.Tyr2000Ter)
|
rs1372787085
|
|
|
NM_001369.3(DNAH5):c.599T>G (p.Leu200Trp)
|
rs2547155760
|
|
|
NM_001369.3(DNAH5):c.6000C>A (p.Tyr2000Ter)
|
rs773208371
|
|
|
NM_001369.3(DNAH5):c.6001G>T (p.Val2001Phe)
|
rs769656114
|
|
|
NM_001369.3(DNAH5):c.6003C>G (p.Val2001=)
|
rs372754085
|
|
|
NM_001369.3(DNAH5):c.6012C>T (p.Phe2004=)
|
rs1561375651
|
|
|
NM_001369.3(DNAH5):c.6014A>G (p.Asn2005Ser)
|
rs1375968864
|
|
|
NM_001369.3(DNAH5):c.6021A>G (p.Ser2007=)
|
rs758505863
|
|
|
NM_001369.3(DNAH5):c.6025C>T (p.Gln2009Ter)
|
rs1763540075
|
|
|
NM_001369.3(DNAH5):c.6033T>C (p.Asp2011=)
|
rs2546881620
|
|
|
NM_001369.3(DNAH5):c.6036C>T (p.Phe2012=)
|
rs2151837832
|
|
|
NM_001369.3(DNAH5):c.6037C>T (p.Arg2013Ter)
|
rs1273352530
|
|
|
NM_001369.3(DNAH5):c.6039A>G (p.Arg2013=)
|
rs112102932
|
|
|
NM_001369.3(DNAH5):c.603C>T (p.Ser201=)
|
rs935006138
|
|
|
NM_001369.3(DNAH5):c.6042A>C (p.Gly2014=)
|
rs2546881570
|
|
|
NM_001369.3(DNAH5):c.6044T>C (p.Leu2015Pro)
|
rs2546881551
|
|
|
NM_001369.3(DNAH5):c.6048A>G (p.Gly2016=)
|
rs1485973713
|
|
|
NM_001369.3(DNAH5):c.6049C>T (p.Arg2017Trp)
|
rs143679999
|
|
|
NM_001369.3(DNAH5):c.6061+1G>A
|
rs772658660
|
|
|
NM_001369.3(DNAH5):c.6061+7G>A
|
rs1334799290
|
|
|
NM_001369.3(DNAH5):c.6061+7G>C
|
rs1334799290
|
|
|
NM_001369.3(DNAH5):c.6061+9T>A
|
rs1400186119
|
|
|
NM_001369.3(DNAH5):c.6062-15A>G
|
rs373753726
|
|
|
NM_001369.3(DNAH5):c.6062-19A>T
|
rs756506353
|
|
|
NM_001369.3(DNAH5):c.6062-6T>C
|
rs1471313971
|
|
|
NM_001369.3(DNAH5):c.6062-9C>T
|
rs2151836791
|
|
|
NM_001369.3(DNAH5):c.606C>T (p.Ser202=)
|
rs2547155737
|
|
|
NM_001369.3(DNAH5):c.6070C>A (p.Gln2024Lys)
|
rs989184330
|
|
|
NM_001369.3(DNAH5):c.6072G>A (p.Gln2024=)
|
rs2546879203
|
|
|
NM_001369.3(DNAH5):c.6083G>A (p.Trp2028Ter)
|
rs2546879148
|
|
|
NM_001369.3(DNAH5):c.6086G>T (p.Gly2029Val)
|
rs1763454468
|
|
|
NM_001369.3(DNAH5):c.6088T>G (p.Cys2030Gly)
|
rs1763453207
|
|
|
NM_001369.3(DNAH5):c.609G>A (p.Leu203=)
|
rs2151995419
|
|
|
NM_001369.3(DNAH5):c.609G>T (p.Leu203=)
|
rs2151995419
|
|
|
NM_001369.3(DNAH5):c.6107G>T (p.Arg2036Leu)
|
rs760502991
|
|
|
NM_001369.3(DNAH5):c.6114T>C (p.Asp2038=)
|
rs772306307
|
|
|
NM_001369.3(DNAH5):c.6117A>G (p.Leu2039=)
|
rs1561373685
|
|
|
NM_001369.3(DNAH5):c.6120A>G (p.Pro2040=)
|
rs1763443730
|
|
|
NM_001369.3(DNAH5):c.6126C>T (p.Leu2042=)
|
rs1763441290
|
|
|
NM_001369.3(DNAH5):c.6129G>A (p.Ser2043=)
|
rs141459197
|
|
|
NM_001369.3(DNAH5):c.6129G>C (p.Ser2043=)
|
rs141459197
|
|
|
NM_001369.3(DNAH5):c.6132del (p.Ala2045fs)
|
rs2546878819
|
|
|
NM_001369.3(DNAH5):c.6135A>G (p.Ala2045=)
|
rs2546878798
|
|
|
NM_001369.3(DNAH5):c.6165T>A (p.Cys2055Ter)
|
rs2546878696
|
|
|
NM_001369.3(DNAH5):c.6167A>C (p.Lys2056Thr)
|
|
|
|
NM_001369.3(DNAH5):c.6170A>G (p.Lys2057Arg)
|
rs1256261329
|
|
|
NM_001369.3(DNAH5):c.6173A>G (p.Glu2058Gly)
|
rs2546878648
|
|
|
NM_001369.3(DNAH5):c.6173del (p.Glu2058fs)
|
rs2546878658
|
|
|
NM_001369.3(DNAH5):c.6180A>G (p.Lys2060=)
|
rs2546878625
|
|
|
NM_001369.3(DNAH5):c.6189T>C (p.Phe2063=)
|
rs1763432683
|
|
|
NM_001369.3(DNAH5):c.618T>C (p.Phe206=)
|
rs2151995408
|
|
|
NM_001369.3(DNAH5):c.6201T>C (p.Asp2067=)
|
rs2151836398
|
|
|
NM_001369.3(DNAH5):c.6206A>T (p.Asp2069Val)
|
rs2546878490
|
|
|
NM_001369.3(DNAH5):c.621G>A (p.Val207=)
|
rs2547155642
|
|
|
NM_001369.3(DNAH5):c.6228A>G (p.Glu2076=)
|
rs2546878444
|
|
|
NM_001369.3(DNAH5):c.6249+12C>A
|
rs770940328
|
|
|
NM_001369.3(DNAH5):c.6249+14A>G
|
rs2546878267
|
|
|
NM_001369.3(DNAH5):c.6249+4A>T
|
rs1554067648
|
|
|
NM_001369.3(DNAH5):c.624C>G (p.Asn208Lys)
|
rs139640247
|
|
|
NM_001369.3(DNAH5):c.6250-19G>A
|
rs1763385355
|
|
|
NM_001369.3(DNAH5):c.6250-2A>G
|
rs2151835519
|
|
|
NM_001369.3(DNAH5):c.6250-3del
|
rs2151835529
|
|
|
NM_001369.3(DNAH5):c.6250-9T>C
|
rs1763383856
|
|
|
NM_001369.3(DNAH5):c.6255T>C (p.Pro2085=)
|
rs2151835512
|
|
|
NM_001369.3(DNAH5):c.6264C>G (p.Ala2088=)
|
rs1348689
|
|
|
NM_001369.3(DNAH5):c.6267A>C (p.Gly2089=)
|
rs1457752082
|
|
|
NM_001369.3(DNAH5):c.6271C>T (p.Gln2091Ter)
|
|
|
|
NM_001369.3(DNAH5):c.6273G>A (p.Gln2091=)
|
rs2546876535
|
|
|
NM_001369.3(DNAH5):c.6276A>G (p.Glu2092=)
|
rs2151835410
|
|
|
NM_001369.3(DNAH5):c.628del (p.Leu210fs)
|
rs2547155603
|
|
|
NM_001369.3(DNAH5):c.6291G>A (p.Leu2097=)
|
rs2546876410
|
|
|
NM_001369.3(DNAH5):c.6293del (p.Lys2098fs)
|
rs1060501461
|
|
|
NM_001369.3(DNAH5):c.6297T>A (p.Ile2099=)
|
rs1763374034
|
|
|
NM_001369.3(DNAH5):c.6307T>C (p.Ser2103Pro)
|
rs777013412
|
|
|
NM_001369.3(DNAH5):c.6309A>C (p.Ser2103=)
|
rs2151835313
|
|
|
NM_001369.3(DNAH5):c.6309A>G (p.Ser2103=)
|
|
|
|
NM_001369.3(DNAH5):c.630G>A (p.Leu210=)
|
rs1428658834
|
|
|
NM_001369.3(DNAH5):c.630G>C (p.Leu210=)
|
rs1428658834
|
|
|
NM_001369.3(DNAH5):c.6315C>G (p.Ala2105=)
|
rs1275214512
|
|
|
NM_001369.3(DNAH5):c.6325C>T (p.Pro2109Ser)
|
rs2546876138
|
|
|
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.6349G>T (p.Val2117Leu)
|
rs1763365674
|
|
|
NM_001369.3(DNAH5):c.6351G>C (p.Val2117=)
|
rs2546875958
|
|
|
NM_001369.3(DNAH5):c.6355T>A (p.Leu2119Met)
|
rs756945576
|
|
|
NM_001369.3(DNAH5):c.6355T>C (p.Leu2119=)
|
|
|
|
NM_001369.3(DNAH5):c.6356T>A (p.Leu2119Ter)
|
rs2546875919
|
|
|
NM_001369.3(DNAH5):c.6357G>A (p.Leu2119=)
|
rs2546875910
|
|
|
NM_001369.3(DNAH5):c.6363T>C (p.Ser2121=)
|
rs112958077
|
|
|
NM_001369.3(DNAH5):c.6368del (p.Gly2123fs)
|
rs2151835119
|
|
|
NM_001369.3(DNAH5):c.636T>C (p.Gly212=)
|
rs376360357
|
|
|
NM_001369.3(DNAH5):c.6382G>A (p.Val2128Ile)
|
rs754976621
|
|
|
NM_001369.3(DNAH5):c.639A>G (p.Ala213=)
|
rs1428773142
|
|
|
NM_001369.3(DNAH5):c.6402T>C (p.Phe2134=)
|
rs1376548457
|
|
|
NM_001369.3(DNAH5):c.640C>T (p.Gln214Ter)
|
rs2547155495
|
|
|
NM_001369.3(DNAH5):c.6411C>G (p.Leu2137=)
|
rs776835360
|
|
|
NM_001369.3(DNAH5):c.6414C>T (p.Tyr2138=)
|
rs2151834981
|
|
|
NM_001369.3(DNAH5):c.6415A>G (p.Lys2139Glu)
|
|
|
|
NM_001369.3(DNAH5):c.6420G>T (p.Leu2140=)
|
rs2151834955
|
|
|
NM_001369.3(DNAH5):c.6423_6424del (p.Cys2141_Glu2142delinsTer)
|
rs1580457416
|
|
|
NM_001369.3(DNAH5):c.6427G>T (p.Glu2143Ter)
|
rs1064795496
|
|
|
NM_001369.3(DNAH5):c.6428A>T (p.Glu2143Val)
|
rs772595583
|
|
|
NM_001369.3(DNAH5):c.642G>A (p.Gln214=)
|
rs746390393
|
|
|
NM_001369.3(DNAH5):c.6430C>T (p.Gln2144Ter)
|
rs748882657
|
|
|
NM_001369.3(DNAH5):c.6438T>C (p.Ser2146=)
|
rs1417243684
|
|
|
NM_001369.3(DNAH5):c.6442C>T (p.Gln2148Ter)
|
rs777303718
|
|
|
NM_001369.3(DNAH5):c.6444+15A>C
|
|
|
|
NM_001369.3(DNAH5):c.6444+19C>G
|
rs376241518
|
|
|
NM_001369.3(DNAH5):c.6444+9del
|
rs2151834848
|
|
|
NM_001369.3(DNAH5):c.6445-10C>T
|
rs2546858753
|
|
|
NM_001369.3(DNAH5):c.6445-14C>G
|
rs2546858764
|
|
|
NM_001369.3(DNAH5):c.6445-19T>C
|
rs2546858820
|
|
|
NM_001369.3(DNAH5):c.6445-22_6445-20dup
|
|
|
|
NM_001369.3(DNAH5):c.6445-2A>G
|
rs1309120344
|
|
|
NM_001369.3(DNAH5):c.6445-4C>G
|
rs780634368
|
|
|
NM_001369.3(DNAH5):c.6445-5T>C
|
rs2151824083
|
|
|
NM_001369.3(DNAH5):c.6453T>A (p.Tyr2151Ter)
|
rs2151824052
|
|
|
NM_001369.3(DNAH5):c.6454G>A (p.Asp2152Asn)
|
rs886059975
|
|
|
NM_001369.3(DNAH5):c.6455A>T (p.Asp2152Val)
|
rs1389551827
|
|
|
NM_001369.3(DNAH5):c.6462C>A (p.Gly2154=)
|
rs1157027184
|
|
|
NM_001369.3(DNAH5):c.6465G>A (p.Leu2155=)
|
rs1436835343
|
|
|
NM_001369.3(DNAH5):c.6471C>T (p.Asn2157=)
|
rs2546858452
|
|
|
NM_001369.3(DNAH5):c.6473T>G (p.Ile2158Ser)
|
rs2546858432
|
|
|
NM_001369.3(DNAH5):c.6474T>A (p.Ile2158=)
|
rs2151823969
|
|
|
NM_001369.3(DNAH5):c.6477G>T (p.Leu2159=)
|
rs778815016
|
|
|
NM_001369.3(DNAH5):c.6480A>C (p.Ser2160=)
|
rs1382535223
|
|
|
NM_001369.3(DNAH5):c.6483del (p.Leu2162fs)
|
rs1180317009
|
|
|
NM_001369.3(DNAH5):c.6493T>C (p.Leu2165=)
|
rs1453134825
|
|
|
NM_001369.3(DNAH5):c.6494T>A (p.Leu2165Ter)
|
rs1762613802
|
|
|
NM_001369.3(DNAH5):c.64C>T (p.Leu22=)
|
rs2152009037
|
|
|
NM_001369.3(DNAH5):c.6501A>G (p.Ala2167=)
|
rs1277792544
|
|
|
NM_001369.3(DNAH5):c.6508dup (p.Arg2170fs)
|
rs878854458
|
|
|
NM_001369.3(DNAH5):c.6510A>G (p.Arg2170=)
|
rs768106523
|
|
|
NM_001369.3(DNAH5):c.6517C>G (p.Pro2173Ala)
|
rs771337839
|
|
|
NM_001369.3(DNAH5):c.6528G>A (p.Thr2176=)
|
rs768101989
|
|
|
NM_001369.3(DNAH5):c.6528G>T (p.Thr2176=)
|
rs768101989
|
|
|
NM_001369.3(DNAH5):c.6534C>T (p.Ser2178=)
|
rs2546857936
|
|
|
NM_001369.3(DNAH5):c.6540T>C (p.Ile2180=)
|
rs1762603808
|
|
|
NM_001369.3(DNAH5):c.6543C>T (p.Val2181=)
|
rs2546857822
|
|
|
NM_001369.3(DNAH5):c.6552A>G (p.Val2184=)
|
rs2546857621
|
|
|
NM_001369.3(DNAH5):c.6555A>G (p.Leu2185=)
|
rs2151823590
|
|
|
NM_001369.3(DNAH5):c.6558G>A (p.Arg2186=)
|
rs2546857588
|
|
|
NM_001369.3(DNAH5):c.655G>T (p.Glu219Ter)
|
rs2547155385
|
|
|
NM_001369.3(DNAH5):c.6570T>G (p.Leu2190=)
|
rs767762675
|
|
|
NM_001369.3(DNAH5):c.6577C>T (p.Leu2193=)
|
rs887192930
|
|
|
NM_001369.3(DNAH5):c.6579+15T>A
|
rs2546857363
|
|
|
NM_001369.3(DNAH5):c.6579+18A>C
|
rs2151823432
|
|
|
NM_001369.3(DNAH5):c.6580-10del
|
rs2546854115
|
|
|
NM_001369.3(DNAH5):c.6580-15A>C
|
rs1267730036
|
|
|
NM_001369.3(DNAH5):c.6580-1G>T
|
rs2546854025
|
|
|
NM_001369.3(DNAH5):c.6580-3del
|
rs745608527
|
|
|
NM_001369.3(DNAH5):c.6580-9T>G
|
rs2151821541
|
|
|
NM_001369.3(DNAH5):c.6580-9dup
|
rs745608527
|
|
|
NM_001369.3(DNAH5):c.6580A>G (p.Ile2194Val)
|
rs2546854013
|
|
|
NM_001369.3(DNAH5):c.6581T>C (p.Ile2194Thr)
|
rs755113058
|
|
|
NM_001369.3(DNAH5):c.6582T>C (p.Ile2194=)
|
rs1341522954
|
|
|
NM_001369.3(DNAH5):c.6589G>A (p.Asp2197Asn)
|
|
|
|
NM_001369.3(DNAH5):c.6591T>C (p.Asp2197=)
|
rs146594334
|
|
|
NM_001369.3(DNAH5):c.6595C>A (p.Pro2199Thr)
|
rs1350160267
|
|
|
NM_001369.3(DNAH5):c.660+19T>C
|
|
|
|
NM_001369.3(DNAH5):c.660+20T>C
|
rs1177780729
|
|
|
NM_001369.3(DNAH5):c.660+7A>G
|
rs2547155334
|
|
|
NM_001369.3(DNAH5):c.6605del (p.Phe2201_Leu2202insTer)
|
rs1762470883
|
|
|
NM_001369.3(DNAH5):c.661-13T>G
|
|
|
|
NM_001369.3(DNAH5):c.661-20T>C
|
rs746003135
|
|
|
NM_001369.3(DNAH5):c.661-5A>C
|
rs779368448
|
|
|
NM_001369.3(DNAH5):c.661-5A>T
|
rs779368448
|
|
|
NM_001369.3(DNAH5):c.661-8C>T
|
rs1227311322
|
|
|
NM_001369.3(DNAH5):c.661-9T>C
|
rs2547149633
|
|
|
NM_001369.3(DNAH5):c.6611del (p.Ser2203_Leu2204insTer)
|
rs2546853775
|
|
|
NM_001369.3(DNAH5):c.6612G>A (p.Leu2204=)
|
rs2546853760
|
|
|
NM_001369.3(DNAH5):c.6618A>G (p.Glu2206=)
|
rs1762469489
|
|
|
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.6639T>C (p.Leu2213=)
|
rs2151821349
|
|
|
NM_001369.3(DNAH5):c.6650C>A (p.Ala2217Glu)
|
rs748338986
|
|
|
NM_001369.3(DNAH5):c.6651A>G (p.Ala2217=)
|
rs2546853504
|
|
|
NM_001369.3(DNAH5):c.6657C>A (p.Tyr2219Ter)
|
rs1270916321
|
|
|
NM_001369.3(DNAH5):c.6658C>A (p.Pro2220Thr)
|
rs2151821296
|
|
|
NM_001369.3(DNAH5):c.6676A>G (p.Ile2226Val)
|
rs750936569
|
|
|
NM_001369.3(DNAH5):c.667C>T (p.Leu223Phe)
|
|
|
|
NM_001369.3(DNAH5):c.6681T>A (p.Ser2227Arg)
|
rs1355806912
|
|
|
NM_001369.3(DNAH5):c.6682A>C (p.Arg2228=)
|
rs1762460445
|
|
|
NM_001369.3(DNAH5):c.6682A>T (p.Arg2228Ter)
|
rs1762460445
|
|
|
NM_001369.3(DNAH5):c.6687+16G>A
|
|
|
|
NM_001369.3(DNAH5):c.6688-12T>C
|
rs879007222
|
|
|
NM_001369.3(DNAH5):c.6688-14T>G
|
|
|
|
NM_001369.3(DNAH5):c.6688-19G>T
|
rs1762078109
|
|
|
NM_001369.3(DNAH5):c.6696A>G (p.Glu2232=)
|
rs910412533
|
|
|
NM_001369.3(DNAH5):c.66G>A (p.Leu22=)
|
rs1778385888
|
|
|
NM_001369.3(DNAH5):c.6706A>G (p.Ile2236Val)
|
|
|
|
NM_001369.3(DNAH5):c.6714T>C (p.His2238=)
|
rs2151814481
|
|
|
NM_001369.3(DNAH5):c.6736A>G (p.Ile2246Val)
|
rs2546843688
|
|
|
NM_001369.3(DNAH5):c.6738C>T (p.Ile2246=)
|
rs1334947617
|
|
|
NM_001369.3(DNAH5):c.6739C>T (p.Gln2247Ter)
|
rs2151814430
|
|
|
NM_001369.3(DNAH5):c.6754C>T (p.Gln2252Ter)
|
rs2546843576
|
|
|
NM_001369.3(DNAH5):c.6756G>A (p.Gln2252=)
|
rs772331974
|
|
|
NM_001369.3(DNAH5):c.6757A>C (p.Arg2253=)
|
rs2151814381
|
|
|
NM_001369.3(DNAH5):c.6757A>T (p.Arg2253Ter)
|
rs2151814381
|
|
|
NM_001369.3(DNAH5):c.6762G>A (p.Val2254=)
|
rs2546843490
|
|
|
NM_001369.3(DNAH5):c.6763C>A (p.Arg2255=)
|
rs745918507
|
|
|
NM_001369.3(DNAH5):c.6768T>C (p.His2256=)
|
rs1461862676
|
|
|
NM_001369.3(DNAH5):c.676T>C (p.Cys226Arg)
|
rs1777146393
|
|
|
NM_001369.3(DNAH5):c.677del (p.Cys226fs)
|
rs2547149457
|
|
|
NM_001369.3(DNAH5):c.6789_6790inv (p.Ser2264Gly)
|
|
|
|
NM_001369.3(DNAH5):c.6790A>G (p.Ser2264Gly)
|
rs746622526
|
|
|
NM_001369.3(DNAH5):c.6793_6809del (p.Gly2265fs)
|
rs2151814193
|
|
|
NM_001369.3(DNAH5):c.6794G>C (p.Gly2265Ala)
|
rs758160967
|
|
|
NM_001369.3(DNAH5):c.6796G>A (p.Ala2266Thr)
|
rs1023849945
|
|
|
NM_001369.3(DNAH5):c.6804del (p.Thr2269fs)
|
rs2151814213
|
|
|
NM_001369.3(DNAH5):c.6807C>T (p.Thr2269=)
|
rs2151814199
|
|
|
NM_001369.3(DNAH5):c.6812G>A (p.Cys2271Tyr)
|
rs1441567937
|
|
|
NM_001369.3(DNAH5):c.6815_6818dup (p.Thr2274fs)
|
rs2546843111
|
|
|
NM_001369.3(DNAH5):c.681C>T (p.Asp227=)
|
rs1580893733
|
|
|
NM_001369.3(DNAH5):c.6828G>A (p.Met2276Ile)
|
|
|
|
NM_001369.3(DNAH5):c.6831A>G (p.Arg2277=)
|
rs2151814113
|
|
|
NM_001369.3(DNAH5):c.6841+1G>A
|
rs2151814082
|
|
|
NM_001369.3(DNAH5):c.6841+1G>C
|
rs2151814082
|
|
|
NM_001369.3(DNAH5):c.6841+8G>A
|
rs775306219
|
|
|
NM_001369.3(DNAH5):c.6841+9C>A
|
rs767723156
|
|
|
NM_001369.3(DNAH5):c.6843T>C (p.Asp2281=)
|
rs767314487
|
|
|
NM_001369.3(DNAH5):c.6844del (p.Cys2282fs)
|
rs1489564718
|
|
|
NM_001369.3(DNAH5):c.6849A>G (p.Gly2283=)
|
rs774606797
|
|
|
NM_001369.3(DNAH5):c.6860G>A (p.Arg2287Gln)
|
rs766430786
|
|
|
NM_001369.3(DNAH5):c.6879C>T (p.Pro2293=)
|
rs1313742038
|
|
|
NM_001369.3(DNAH5):c.6884C>G (p.Ala2295Gly)
|
rs368441809
|
|
|
NM_001369.3(DNAH5):c.6884C>T (p.Ala2295Val)
|
rs368441809
|
|
|
NM_001369.3(DNAH5):c.6885G>C (p.Ala2295=)
|
rs762437869
|
|
|
NM_001369.3(DNAH5):c.68A>G (p.Lys23Arg)
|
rs1190528830
|
|
|
NM_001369.3(DNAH5):c.6900G>A (p.Gln2300=)
|
rs745471071
|
|
|
NM_001369.3(DNAH5):c.6900G>C (p.Gln2300His)
|
|
|
|
NM_001369.3(DNAH5):c.6902_6917del (p.Met2301fs)
|
rs757162805
|
|
|
NM_001369.3(DNAH5):c.6905T>G (p.Phe2302Cys)
|
rs981583760
|
|
|
NM_001369.3(DNAH5):c.6908G>C (p.Gly2303Ala)
|
rs1580399696
|
|
|
NM_001369.3(DNAH5):c.6908G>T (p.Gly2303Val)
|
rs1580399696
|
|
|
NM_001369.3(DNAH5):c.6910C>A (p.Arg2304=)
|
rs537125100
|
|
|
NM_001369.3(DNAH5):c.6913C>T (p.Leu2305=)
|
|
|
|
NM_001369.3(DNAH5):c.6918C>G (p.Asp2306Glu)
|
|
|
|
NM_001369.3(DNAH5):c.6925A>C (p.Thr2309Pro)
|
rs1761613337
|
|
|
NM_001369.3(DNAH5):c.6932_6935del (p.Asp2311fs)
|
rs1554062097
|
|
|
NM_001369.3(DNAH5):c.6942T>C (p.Asp2314=)
|
rs2546833860
|
|
|
NM_001369.3(DNAH5):c.6944G>C (p.Gly2315Ala)
|
|
|
|
NM_001369.3(DNAH5):c.6947T>C (p.Ile2316Thr)
|
rs1761611403
|
|
|
NM_001369.3(DNAH5):c.694A>T (p.Lys232Ter)
|
rs2547149327
|
|
|
NM_001369.3(DNAH5):c.6962G>A (p.Trp2321Ter)
|
rs2151807051
|
|
|
NM_001369.3(DNAH5):c.6964A>C (p.Arg2322=)
|
rs1387569922
|
|
|
NM_001369.3(DNAH5):c.6988+18A>T
|
rs748983655
|
|
|
NM_001369.3(DNAH5):c.6988+2T>C
|
rs2151806960
|
|
|
NM_001369.3(DNAH5):c.6988+9T>C
|
rs2151806939
|
|
|
NM_001369.3(DNAH5):c.6989-10G>T
|
rs776187946
|
|
|
NM_001369.3(DNAH5):c.6989-18T>C
|
rs2151800885
|
|
|
NM_001369.3(DNAH5):c.6989-3T>C
|
|
|
|
NM_001369.3(DNAH5):c.6989-4C>T
|
rs2546825953
|
|
|
NM_001369.3(DNAH5):c.6989-7_6989-5dup
|
rs1460888052
|
|
|
NM_001369.3(DNAH5):c.6989-9G>T
|
rs1761233197
|
|
|
NM_001369.3(DNAH5):c.6989-9del
|
rs2546826005
|
|
|
NM_001369.3(DNAH5):c.698C>G (p.Thr233Ser)
|
rs1416012949
|
|
|
NM_001369.3(DNAH5):c.6990G>C (p.Gly2330=)
|
rs2546825925
|
|
|
NM_001369.3(DNAH5):c.6996T>C (p.His2332=)
|
rs2546825895
|
|
|
NM_001369.3(DNAH5):c.6T>C (p.Phe2=)
|
rs1779749420
|
|
|
NM_001369.3(DNAH5):c.7000T>C (p.Trp2334Arg)
|
rs2546825868
|
|
|
NM_001369.3(DNAH5):c.700C>A (p.Leu234Ile)
|
rs199974463
|
|
|
NM_001369.3(DNAH5):c.7011T>C (p.Leu2337=)
|
rs2151800755
|
|
|
NM_001369.3(DNAH5):c.7012G>C (p.Asp2338His)
|
rs2151800746
|
|
|
NM_001369.3(DNAH5):c.7018C>A (p.Pro2340Thr)
|
rs202082284
|
|
|
NM_001369.3(DNAH5):c.7023A>G (p.Val2341=)
|
rs2151800727
|
|
|
NM_001369.3(DNAH5):c.7027G>T (p.Ala2343Ser)
|
rs2546825796
|
|
|
NM_001369.3(DNAH5):c.7034G>A (p.Trp2345Ter)
|
rs755596256
|
|
|
NM_001369.3(DNAH5):c.7044T>C (p.Asn2348=)
|
rs2151800646
|
|
|
NM_001369.3(DNAH5):c.7059G>A (p.Leu2353=)
|
|
|
|
NM_001369.3(DNAH5):c.705G>A (p.Lys235=)
|
rs2547149261
|
|
|
NM_001369.3(DNAH5):c.7065_7066insTT (p.Asn2356fs)
|
rs2151800607
|
|
|
NM_001369.3(DNAH5):c.7075C>T (p.Leu2359=)
|
rs2151800596
|
|
|
NM_001369.3(DNAH5):c.7080C>T (p.Thr2360=)
|
rs2151800576
|
|
|
NM_001369.3(DNAH5):c.7089T>C (p.Asn2363=)
|
rs547828965
|
|
|
NM_001369.3(DNAH5):c.7097G>A (p.Arg2366Gln)
|
rs2151800505
|
|
|
NM_001369.3(DNAH5):c.7104C>T (p.Pro2368=)
|
rs1561333047
|
|
|
NM_001369.3(DNAH5):c.7121A>G (p.Lys2374Arg)
|
|
|
|
NM_001369.3(DNAH5):c.7125C>T (p.Ile2375=)
|
rs867449094
|
|
|
NM_001369.3(DNAH5):c.7143C>T (p.Asn2381=)
|
rs148062042
|
|
|
NM_001369.3(DNAH5):c.7146T>C (p.Ile2382=)
|
rs2546825076
|
|
|
NM_001369.3(DNAH5):c.7149C>T (p.Asp2383=)
|
rs2151800283
|
|
|
NM_001369.3(DNAH5):c.714G>A (p.Thr238=)
|
rs765235547
|
|
|
NM_001369.3(DNAH5):c.7155T>C (p.Ala2385=)
|
|
|
|
NM_001369.3(DNAH5):c.7161T>C (p.Pro2387=)
|
rs781701462
|
|
|
NM_001369.3(DNAH5):c.7167C>G (p.Thr2389=)
|
rs377435331
|
|
|
NM_001369.3(DNAH5):c.7173A>G (p.Ser2391=)
|
rs2546824966
|
|
|
NM_001369.3(DNAH5):c.717_729del (p.Asp239fs)
|
rs2151992688
|
|
|
NM_001369.3(DNAH5):c.7182A>C (p.Gly2394=)
|
rs761385629
|
|
|
NM_001369.3(DNAH5):c.7186G>A (p.Val2396Ile)
|
|
|
|
NM_001369.3(DNAH5):c.719A>G (p.Tyr240Cys)
|
|
|
|
NM_001369.3(DNAH5):c.7200T>G (p.Ser2400=)
|
rs2151800106
|
|
|
NM_001369.3(DNAH5):c.7202C>T (p.Ser2401Phe)
|
rs2546824852
|
|
|
NM_001369.3(DNAH5):c.7204A>C (p.Ile2402Leu)
|
rs1368779884
|
|
|
NM_001369.3(DNAH5):c.7205T>C (p.Ile2402Thr)
|
rs774934452
|
|
|
NM_001369.3(DNAH5):c.7206C>A (p.Ile2402=)
|
rs747529694
|
|
|
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.7230+10A>T
|
rs2151800023
|
|
|
NM_001369.3(DNAH5):c.7230+17C>G
|
rs1761190445
|
|
|
NM_001369.3(DNAH5):c.7230+18T>C
|
|
|
|
NM_001369.3(DNAH5):c.7230+20T>C
|
rs2546824643
|
|
|
NM_001369.3(DNAH5):c.7230+8T>C
|
rs2546824712
|
|
|
NM_001369.3(DNAH5):c.7230G>C (p.Glu2410Asp)
|
rs2546824761
|
|
|
NM_001369.3(DNAH5):c.7231-11_7242del
|
rs2546815057
|
|
|
NM_001369.3(DNAH5):c.7231-5G>T
|
rs2127027842
|
|
|
NM_001369.3(DNAH5):c.7231-6del
|
rs1465272963
|
|
|
NM_001369.3(DNAH5):c.7231-7C>G
|
|
|
|
NM_001369.3(DNAH5):c.7231-9A>C
|
rs945527843
|
|
|
NM_001369.3(DNAH5):c.7231-9_7231-8inv
|
|
|
|
NM_001369.3(DNAH5):c.7233T>A (p.Gly2411=)
|
|
|
|
NM_001369.3(DNAH5):c.7233T>C (p.Gly2411=)
|
rs2127027813
|
|
|
NM_001369.3(DNAH5):c.7251A>G (p.Ser2417=)
|
rs2546815005
|
|
|
NM_001369.3(DNAH5):c.7263A>C (p.Ala2421=)
|
rs2127027512
|
|
|
NM_001369.3(DNAH5):c.7270del (p.Leu2424fs)
|
|
|
|
NM_001369.3(DNAH5):c.7276C>T (p.Gln2426Ter)
|
rs1760754570
|
|
|
NM_001369.3(DNAH5):c.7278G>A (p.Gln2426=)
|
rs2546814863
|
|
|
NM_001369.3(DNAH5):c.7284C>T (p.Tyr2428=)
|
rs1448008542
|
|
|
NM_001369.3(DNAH5):c.7287C>A (p.Thr2429=)
|
rs762808221
|
|
|
NM_001369.3(DNAH5):c.7287C>G (p.Thr2429=)
|
rs762808221
|
|
|
NM_001369.3(DNAH5):c.7288G>T (p.Glu2430Ter)
|
rs575491117
|
|
|
NM_001369.3(DNAH5):c.7288dup (p.Glu2430fs)
|
rs2546814805
|
|
|
NM_001369.3(DNAH5):c.7289A>T (p.Glu2430Val)
|
rs770043711
|
|
|
NM_001369.3(DNAH5):c.7290G>A (p.Glu2430=)
|
rs1760752055
|
|
|
NM_001369.3(DNAH5):c.7293T>A (p.Ser2431=)
|
rs2127027219
|
|
|
NM_001369.3(DNAH5):c.7303T>C (p.Leu2435=)
|
rs2546814661
|
|
|
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.7320C>T (p.Ile2440=)
|
rs2546814523
|
|
|
NM_001369.3(DNAH5):c.7325del (p.Asn2442fs)
|
rs2546814478
|
|
|
NM_001369.3(DNAH5):c.7332A>C (p.Glu2444Asp)
|
rs2546814423
|
|
|
NM_001369.3(DNAH5):c.7335C>T (p.Tyr2445=)
|
rs2127026828
|
|
|
NM_001369.3(DNAH5):c.7335_7336del (p.Tyr2445_Lys2446delinsTer)
|
rs2546814400
|
|
|
NM_001369.3(DNAH5):c.7340dup (p.Met2447fs)
|
rs2127026775
|
|
|
NM_001369.3(DNAH5):c.734A>G (p.Asn245Ser)
|
rs2151992686
|
|
|
NM_001369.3(DNAH5):c.7356C>T (p.Ala2452=)
|
rs1648859064
|
|
|
NM_001369.3(DNAH5):c.735T>C (p.Asn245=)
|
rs2151992681
|
|
|
NM_001369.3(DNAH5):c.7365dup (p.Thr2456fs)
|
rs2127026526
|
|
|
NM_001369.3(DNAH5):c.7369C>T (p.Gln2457Ter)
|
rs2127026486
|
|
|
NM_001369.3(DNAH5):c.7381A>G (p.Met2461Val)
|
rs776738829
|
|
|
NM_001369.3(DNAH5):c.7385T>A (p.Leu2462His)
|
rs1554059594
|
|
|
NM_001369.3(DNAH5):c.7388A>C (p.Gln2463Pro)
|
rs10078391
|
|
|
NM_001369.3(DNAH5):c.7390G>A (p.Gly2464Ser)
|
rs112103817
|
|
|
NM_001369.3(DNAH5):c.7391G>A (p.Gly2464Asp)
|
rs772513153
|
|
|
NM_001369.3(DNAH5):c.7391G>C (p.Gly2464Ala)
|
rs772513153
|
|
|
NM_001369.3(DNAH5):c.7391G>T (p.Gly2464Val)
|
rs772513153
|
|
|
NM_001369.3(DNAH5):c.7392C>G (p.Gly2464=)
|
rs2127026199
|
|
|
NM_001369.3(DNAH5):c.7407+11C>T
|
rs1376474707
|
|
|
NM_001369.3(DNAH5):c.7407+13A>G
|
rs1175951108
|
|
|
NM_001369.3(DNAH5):c.7407+15T>C
|
rs1561324607
|
|
|
NM_001369.3(DNAH5):c.7407+18C>G
|
rs1760727912
|
|
|
NM_001369.3(DNAH5):c.7407+1G>A
|
rs749711805
|
|
|
NM_001369.3(DNAH5):c.7407+7T>G
|
rs371481233
|
|
|
NM_001369.3(DNAH5):c.7407+9C>T
|
rs2546813751
|
|
|
NM_001369.3(DNAH5):c.7408-13C>A
|
rs2546807222
|
|
|
NM_001369.3(DNAH5):c.7408-13C>G
|
rs2546807222
|
|
|
NM_001369.3(DNAH5):c.7408-14T>C
|
rs1454703878
|
|
|
NM_001369.3(DNAH5):c.7408-16T>C
|
rs765030469
|
|
|
NM_001369.3(DNAH5):c.7408-16T>G
|
rs765030469
|
|
|
NM_001369.3(DNAH5):c.7408-17G>C
|
rs1446765769
|
|
|
NM_001369.3(DNAH5):c.7408-18del
|
rs763542767
|
|
|
NM_001369.3(DNAH5):c.7408-18dup
|
rs763542767
|
|
|
NM_001369.3(DNAH5):c.7408-1G>A
|
rs2546807137
|
|
|
NM_001369.3(DNAH5):c.7408-8C>T
|
rs2127015660
|
|
|
NM_001369.3(DNAH5):c.7408-9C>T
|
rs1580363639
|
|
|
NM_001369.3(DNAH5):c.7410G>A (p.Glu2470=)
|
rs2546807119
|
|
|
NM_001369.3(DNAH5):c.7416C>G (p.Gly2472=)
|
rs1449691654
|
|
|
NM_001369.3(DNAH5):c.7417G>A (p.Gly2473Arg)
|
rs761488491
|
|
|
NM_001369.3(DNAH5):c.7419G>T (p.Gly2473=)
|
rs1561320276
|
|
|
NM_001369.3(DNAH5):c.7420G>T (p.Glu2474Ter)
|
rs776559491
|
|
|
NM_001369.3(DNAH5):c.7422G>A (p.Glu2474=)
|
rs1471304675
|
|
|
NM_001369.3(DNAH5):c.7430A>G (p.Gln2477Arg)
|
rs2127015411
|
|
|
NM_001369.3(DNAH5):c.7436_7450delinsC (p.His2479fs)
|
rs1580363231
|
|
|
NM_001369.3(DNAH5):c.7437_7450del (p.Leu2480fs)
|
rs2127015228
|
|
|
NM_001369.3(DNAH5):c.7444C>T (p.Arg2482Trp)
|
rs1355327016
|
|
|
NM_001369.3(DNAH5):c.7446G>A (p.Arg2482=)
|
rs760905001
|
|
|
NM_001369.3(DNAH5):c.7451T>C (p.Phe2484Ser)
|
|
|
|
NM_001369.3(DNAH5):c.7452C>G (p.Phe2484Leu)
|
rs561666802
|
|
|
NM_001369.3(DNAH5):c.7452C>T (p.Phe2484=)
|
rs561666802
|
|
|
NM_001369.3(DNAH5):c.7453G>C (p.Val2485Leu)
|
|
|
|
NM_001369.3(DNAH5):c.7455G>T (p.Val2485=)
|
rs543051361
|
|
|
NM_001369.3(DNAH5):c.7455_7456dup (p.Phe2486fs)
|
rs2127015093
|
|
|
NM_001369.3(DNAH5):c.7458C>T (p.Phe2486=)
|
rs1554058794
|
|
|
NM_001369.3(DNAH5):c.7459G>A (p.Ala2487Thr)
|
rs774699675
|
|
|
NM_001369.3(DNAH5):c.7459G>T (p.Ala2487Ser)
|
|
|
|
NM_001369.3(DNAH5):c.7461G>T (p.Ala2487=)
|
rs1383118374
|
|
|
NM_001369.3(DNAH5):c.7468_7488del (p.Trp2490_Leu2496del)
|
rs727502975
|
|
|
NM_001369.3(DNAH5):c.7469G>A (p.Trp2490Ter)
|
rs2546806644
|
|
|
NM_001369.3(DNAH5):c.7473C>T (p.Ser2491=)
|
rs1163482951
|
|
|
NM_001369.3(DNAH5):c.7475dup (p.Ala2494fs)
|
rs2546806603
|
|
|
NM_001369.3(DNAH5):c.7476G>A (p.Ala2492=)
|
rs778257130
|
|
|
NM_001369.3(DNAH5):c.7478_7500del (p.Gly2493fs)
|
rs2127014587
|
|
|
NM_001369.3(DNAH5):c.7480dup (p.Ala2494fs)
|
rs1760421077
|
|
|
NM_001369.3(DNAH5):c.7481C>A (p.Ala2494Glu)
|
rs1428862297
|
|
|
NM_001369.3(DNAH5):c.7482G>A (p.Ala2494=)
|
rs1760419989
|
|
|
NM_001369.3(DNAH5):c.7485G>A (p.Ala2495=)
|
rs1760418844
|
|
|
NM_001369.3(DNAH5):c.7485G>C (p.Ala2495=)
|
rs1760418844
|
|
|
NM_001369.3(DNAH5):c.7497C>T (p.Asp2499=)
|
rs891659169
|
|
|
NM_001369.3(DNAH5):c.7498G>A (p.Gly2500Arg)
|
rs1273820025
|
|
|
NM_001369.3(DNAH5):c.7500A>G (p.Gly2500=)
|
rs779667294
|
|
|
NM_001369.3(DNAH5):c.7500A>T (p.Gly2500=)
|
rs779667294
|
|
|
NM_001369.3(DNAH5):c.7500_7503del (p.Arg2501fs)
|
rs1465499923
|
|
|
NM_001369.3(DNAH5):c.7501C>T (p.Arg2501Trp)
|
|
|
|
NM_001369.3(DNAH5):c.7504C>T (p.Arg2502Cys)
|
|
|
|
NM_001369.3(DNAH5):c.7506C>T (p.Arg2502=)
|
rs2127014450
|
|
|
NM_001369.3(DNAH5):c.7509C>G (p.Arg2503=)
|
rs2127014365
|
|
|
NM_001369.3(DNAH5):c.7511T>C (p.Leu2504Pro)
|
rs1344694038
|
|
|
NM_001369.3(DNAH5):c.7514A>T (p.Glu2505Val)
|
rs1296081403
|
|
|
NM_001369.3(DNAH5):c.7515G>C (p.Glu2505Asp)
|
rs1032671138
|
|
|
NM_001369.3(DNAH5):c.7516C>T (p.Leu2506Phe)
|
|
|
|
NM_001369.3(DNAH5):c.7518C>G (p.Leu2506=)
|
rs1363845512
|
|
|
NM_001369.3(DNAH5):c.7524G>C (p.Leu2508=)
|
rs778681867
|
|
|
NM_001369.3(DNAH5):c.7525C>T (p.Arg2509Cys)
|
rs531393117
|
|
|
NM_001369.3(DNAH5):c.7526_7527dup (p.Ser2510fs)
|
rs2127014143
|
|
|
NM_001369.3(DNAH5):c.7527C>T (p.Arg2509=)
|
rs2127014131
|
|
|
NM_001369.3(DNAH5):c.7531C>G (p.Arg2511Gly)
|
rs564040169
|
|
|
NM_001369.3(DNAH5):c.7534C>G (p.Pro2512Ala)
|
rs1760398139
|
|
|
NM_001369.3(DNAH5):c.7535C>G (p.Pro2512Arg)
|
rs763885079
|
|
|
NM_001369.3(DNAH5):c.7536C>G (p.Pro2512=)
|
|
|
|
NM_001369.3(DNAH5):c.7536dup (p.Thr2513fs)
|
rs1580362269
|
|
|
NM_001369.3(DNAH5):c.7540_7543dup (p.Thr2515fs)
|
rs1196559591
|
|
|
NM_001369.3(DNAH5):c.7545G>T (p.Thr2515=)
|
rs1344759999
|
|
|
NM_001369.3(DNAH5):c.7546C>T (p.Leu2516=)
|
rs2127013799
|
|
|
NM_001369.3(DNAH5):c.7552C>G (p.Leu2518Val)
|
rs1272856578
|
|
|
NM_001369.3(DNAH5):c.7552C>T (p.Leu2518=)
|
rs1272856578
|
|
|
NM_001369.3(DNAH5):c.7554G>A (p.Leu2518=)
|
rs767778348
|
|
|
NM_001369.3(DNAH5):c.7554_7578dup (p.Thr2527fs)
|
rs2127013208
|
|
|
NM_001369.3(DNAH5):c.7560G>A (p.Pro2520=)
|
rs762130845
|
|
|
NM_001369.3(DNAH5):c.7563A>G (p.Pro2521=)
|
rs1760382725
|
|
|
NM_001369.3(DNAH5):c.7566G>C (p.Ala2522=)
|
rs774555838
|
|
|
NM_001369.3(DNAH5):c.7572C>T (p.Pro2524=)
|
rs200333759
|
|
|
NM_001369.3(DNAH5):c.7579_7590del (p.Thr2527_Asp2530del)
|
rs1554058577
|
|
|
NM_001369.3(DNAH5):c.7581C>G (p.Thr2527=)
|
rs1047174806
|
|
|
NM_001369.3(DNAH5):c.7581C>T (p.Thr2527=)
|
rs1047174806
|
|
|
NM_001369.3(DNAH5):c.7582G>A (p.Ala2528Thr)
|
|
|
|
NM_001369.3(DNAH5):c.7587C>T (p.Phe2529=)
|
rs1486190432
|
|
|
NM_001369.3(DNAH5):c.7593C>T (p.Tyr2531=)
|
rs2546805445
|
|
|
NM_001369.3(DNAH5):c.7596T>A (p.Tyr2532Ter)
|
rs920106420
|
|
|
NM_001369.3(DNAH5):c.7599G>T (p.Val2533=)
|
rs2127012872
|
|
|
NM_001369.3(DNAH5):c.759A>G (p.Ile253Met)
|
rs1777139269
|
|
|
NM_001369.3(DNAH5):c.7602G>A (p.Ala2534=)
|
rs770309996
|
|
|
NM_001369.3(DNAH5):c.7606G>A (p.Asp2536Asn)
|
|
|
|
NM_001369.3(DNAH5):c.7609+10C>T
|
rs2127012668
|
|
|
NM_001369.3(DNAH5):c.7609+13G>T
|
rs1760354800
|
|
|
NM_001369.3(DNAH5):c.7609+8C>T
|
rs2546805220
|
|
|
NM_001369.3(DNAH5):c.7610-13C>T
|
rs770501534
|
|
|
NM_001369.3(DNAH5):c.7610-19T>C
|
rs1226455995
|
|
|
NM_001369.3(DNAH5):c.7610-1G>A
|
rs2546801549
|
|
|
NM_001369.3(DNAH5):c.7610-2A>G
|
rs2546801557
|
|
|
NM_001369.3(DNAH5):c.7610-5C>T
|
rs1580357237
|
|
|
NM_001369.3(DNAH5):c.7612A>G (p.Thr2538Ala)
|
rs1340645369
|
|
|
NM_001369.3(DNAH5):c.7614A>C (p.Thr2538=)
|
rs756112960
|
|
|
NM_001369.3(DNAH5):c.7614A>G (p.Thr2538=)
|
rs756112960
|
|
|
NM_001369.3(DNAH5):c.7614A>T (p.Thr2538=)
|
rs756112960
|
|
|
NM_001369.3(DNAH5):c.7616G>A (p.Trp2539Ter)
|
rs2127007326
|
|
|
NM_001369.3(DNAH5):c.7625G>A (p.Trp2542Ter)
|
rs2546801418
|
|
|
NM_001369.3(DNAH5):c.7638C>G (p.Thr2546=)
|
rs2127007001
|
|
|
NM_001369.3(DNAH5):c.7644A>G (p.Glu2548=)
|
rs2546801198
|
|
|
NM_001369.3(DNAH5):c.7647C>G (p.Tyr2549Ter)
|
rs2546801150
|
|
|
NM_001369.3(DNAH5):c.7647C>T (p.Tyr2549=)
|
rs2546801150
|
|
|
NM_001369.3(DNAH5):c.7650G>C (p.Leu2550=)
|
rs1230308893
|
|
|
NM_001369.3(DNAH5):c.7651dup (p.Tyr2551fs)
|
rs1340018682
|
|
|
NM_001369.3(DNAH5):c.7653T>C (p.Tyr2551=)
|
rs2546801048
|
|
|
NM_001369.3(DNAH5):c.7656G>T (p.Pro2552=)
|
rs764554950
|
|
|
NM_001369.3(DNAH5):c.765T>C (p.Asp255=)
|
rs767772613
|
|
|
NM_001369.3(DNAH5):c.7665C>T (p.Thr2555=)
|
rs1257235664
|
|
|
NM_001369.3(DNAH5):c.7668C>T (p.Thr2556=)
|
rs2546800904
|
|
|
NM_001369.3(DNAH5):c.7674G>A (p.Glu2558=)
|
rs1760165089
|
|
|
NM_001369.3(DNAH5):c.7677T>C (p.Tyr2559=)
|
rs2546800840
|
|
|
NM_001369.3(DNAH5):c.7679G>A (p.Gly2560Asp)
|
rs1554058022
|
|
|
NM_001369.3(DNAH5):c.7683T>C (p.Ser2561=)
|
rs2546800802
|
|
|
NM_001369.3(DNAH5):c.7684A>G (p.Ile2562Val)
|
rs151287187
|
|
|
NM_001369.3(DNAH5):c.768C>A (p.Cys256Ter)
|
rs2151992604
|
|
|
NM_001369.3(DNAH5):c.7692G>A (p.Val2564=)
|
rs1760161246
|
|
|
NM_001369.3(DNAH5):c.7695A>G (p.Pro2565=)
|
rs2546800735
|
|
|
NM_001369.3(DNAH5):c.769A>G (p.Met257Val)
|
rs759576627
|
|
|
NM_001369.3(DNAH5):c.7707T>C (p.Asn2569=)
|
rs1760158475
|
|
|
NM_001369.3(DNAH5):c.770T>C (p.Met257Thr)
|
rs771377608
|
|
|
NM_001369.3(DNAH5):c.7717dup (p.Asp2573fs)
|
rs2546800624
|
|
|
NM_001369.3(DNAH5):c.7725A>G (p.Leu2575=)
|
rs2546800546
|
|
|
NM_001369.3(DNAH5):c.7733C>A (p.Thr2578Asn)
|
rs2546800503
|
|
|
NM_001369.3(DNAH5):c.7737T>C (p.Ile2579=)
|
rs1760152920
|
|
|
NM_001369.3(DNAH5):c.7742A>G (p.Lys2581Arg)
|
rs1279883936
|
|
|
NM_001369.3(DNAH5):c.7746G>A (p.Gln2582=)
|
rs1396143112
|
|
|
NM_001369.3(DNAH5):c.7749C>T (p.Gly2583=)
|
|
|
|
NM_001369.3(DNAH5):c.774A>G (p.Lys258=)
|
rs1580893288
|
|
|
NM_001369.3(DNAH5):c.774dup (p.Val259fs)
|
rs2547148858
|
|
|
NM_001369.3(DNAH5):c.7752+14T>C
|
rs1760144559
|
|
|
NM_001369.3(DNAH5):c.7752+18dup
|
rs770430406
|
|
|
NM_001369.3(DNAH5):c.7752G>A (p.Lys2584=)
|
rs2546800287
|
|
|
NM_001369.3(DNAH5):c.7753-11C>A
|
rs796607530
|
|
|
NM_001369.3(DNAH5):c.7753-16A>T
|
rs1029180560
|
|
|
NM_001369.3(DNAH5):c.7753-18C>G
|
rs1561311491
|
|
|
NM_001369.3(DNAH5):c.7753-19del
|
rs369652511
|
|
|
NM_001369.3(DNAH5):c.7753-19dup
|
rs369652511
|
|
|
NM_001369.3(DNAH5):c.7753-1G>T
|
rs2546794222
|
|
|
NM_001369.3(DNAH5):c.7753-9del
|
rs2126997386
|
|
|
NM_001369.3(DNAH5):c.7773A>G (p.Glu2591=)
|
rs2546794107
|
|
|
NM_001369.3(DNAH5):c.777A>G (p.Val259=)
|
rs1580893242
|
|
|
NM_001369.3(DNAH5):c.7781C>T (p.Thr2594Ile)
|
|
|
|
NM_001369.3(DNAH5):c.7797A>C (p.Ile2599=)
|
rs2546793973
|
|
|
NM_001369.3(DNAH5):c.7805G>A (p.Gly2602Glu)
|
rs199901657
|
|
|
NM_001369.3(DNAH5):c.7806A>T (p.Gly2602=)
|
rs2546793940
|
|
|
NM_001369.3(DNAH5):c.7810A>T (p.Met2604Leu)
|
rs2546793928
|
|
|
NM_001369.3(DNAH5):c.7814C>T (p.Ser2605Leu)
|
|
|
|
NM_001369.3(DNAH5):c.7818A>G (p.Lys2606=)
|
|
|
|
NM_001369.3(DNAH5):c.7821T>G (p.Tyr2607Ter)
|
rs2126996872
|
|
|
NM_001369.3(DNAH5):c.7830A>G (p.Glu2610=)
|
rs1446485303
|
|
|
NM_001369.3(DNAH5):c.7837A>G (p.Met2613Val)
|
|
|
|
NM_001369.3(DNAH5):c.7853A>G (p.Asn2618Ser)
|
|
|
|
NM_001369.3(DNAH5):c.7858del (p.Ser2620fs)
|
rs2126996545
|
|
|
NM_001369.3(DNAH5):c.7863T>C (p.Ser2621=)
|
rs2126996520
|
|
|
NM_001369.3(DNAH5):c.7866A>G (p.Ala2622=)
|
rs1759830675
|
|
|
NM_001369.3(DNAH5):c.7870A>G (p.Thr2624Ala)
|
rs1296034184
|
|
|
NM_001369.3(DNAH5):c.7874del (p.Pro2625fs)
|
|
|
|
NM_001369.3(DNAH5):c.7875A>G (p.Pro2625=)
|
rs1759827098
|
|
|
NM_001369.3(DNAH5):c.7878G>A (p.Leu2626=)
|
rs761281232
|
|
|
NM_001369.3(DNAH5):c.7884C>T (p.Phe2628=)
|
rs374892108
|
|
|
NM_001369.3(DNAH5):c.7887+10C>G
|
rs1759819499
|
|
|
NM_001369.3(DNAH5):c.7887+20G>A
|
|
|
|
NM_001369.3(DNAH5):c.7887+7G>A
|
rs775316918
|
|
|
NM_001369.3(DNAH5):c.7887+8C>A
|
rs1759820258
|
|
|
NM_001369.3(DNAH5):c.7888-11T>C
|
rs1409248027
|
|
|
NM_001369.3(DNAH5):c.7888-14T>C
|
rs753329948
|
|
|
NM_001369.3(DNAH5):c.7888-15A>G
|
rs2546746479
|
|
|
NM_001369.3(DNAH5):c.7888-18T>C
|
rs2546746485
|
|
|
NM_001369.3(DNAH5):c.7888-1G>A
|
rs767603357
|
|
|
NM_001369.3(DNAH5):c.7888-6del
|
rs745582136
|
|
|
NM_001369.3(DNAH5):c.7888-6dup
|
rs745582136
|
|
|
NM_001369.3(DNAH5):c.7888-7T>C
|
rs2126914507
|
|
|
NM_001369.3(DNAH5):c.7888-8T>G
|
rs2546746437
|
|
|
NM_001369.3(DNAH5):c.7890G>A (p.Arg2630=)
|
rs2126914337
|
|
|
NM_001369.3(DNAH5):c.7893G>T (p.Thr2631=)
|
rs371810104
|
|
|
NM_001369.3(DNAH5):c.7898_7901del (p.Glu2633fs)
|
rs1443540935
|
|
|
NM_001369.3(DNAH5):c.7900A>G (p.Ser2634Gly)
|
|
|
|
NM_001369.3(DNAH5):c.7902C>T (p.Ser2634=)
|
rs2546746230
|
|
|
NM_001369.3(DNAH5):c.7905T>C (p.Tyr2635=)
|
|
|
|
NM_001369.3(DNAH5):c.7911T>C (p.Asp2637=)
|
rs2126914186
|
|
|
NM_001369.3(DNAH5):c.7914A>G (p.Lys2638=)
|
rs2126914141
|
|
|
NM_001369.3(DNAH5):c.7914dup (p.Arg2639fs)
|
rs749082955
|
|
|
NM_001369.3(DNAH5):c.791_794del (p.Thr264fs)
|
rs1391084505
|
|
|
NM_001369.3(DNAH5):c.7922G>T (p.Gly2641Val)
|
|
|
|
NM_001369.3(DNAH5):c.7923T>G (p.Gly2641=)
|
rs748304927
|
|
|
NM_001369.3(DNAH5):c.7926A>G (p.Thr2642=)
|
rs771128631
|
|
|
NM_001369.3(DNAH5):c.7929A>T (p.Thr2643=)
|
rs755546086
|
|
|
NM_001369.3(DNAH5):c.792A>C (p.Thr264=)
|
rs1358293206
|
|
|
NM_001369.3(DNAH5):c.7932T>C (p.Tyr2644=)
|
rs747360419
|
|
|
NM_001369.3(DNAH5):c.7934G>A (p.Gly2645Asp)
|
rs866732649
|
|
|
NM_001369.3(DNAH5):c.7935C>A (p.Gly2645=)
|
rs780409299
|
|
|
NM_001369.3(DNAH5):c.7950G>A (p.Lys2650=)
|
rs1229236281
|
|
|
NM_001369.3(DNAH5):c.795A>G (p.Glu265=)
|
rs2547148658
|
|
|
NM_001369.3(DNAH5):c.7965T>C (p.Phe2655=)
|
rs2126913602
|
|
|
NM_001369.3(DNAH5):c.798+14del
|
rs1561574700
|
|
|
NM_001369.3(DNAH5):c.798+1G>A
|
rs1247757066
|
|
|
NM_001369.3(DNAH5):c.798+2dup
|
rs1777130854
|
|
|
NM_001369.3(DNAH5):c.798+7T>C
|
|
|
|
NM_001369.3(DNAH5):c.7985C>G (p.Pro2662Arg)
|
rs981622980
|
|
|
NM_001369.3(DNAH5):c.799-10G>A
|
rs750556389
|
|
|
NM_001369.3(DNAH5):c.799-10G>C
|
rs750556389
|
|
|
NM_001369.3(DNAH5):c.799-12G>A
|
rs751776426
|
|
|
NM_001369.3(DNAH5):c.799-13del
|
rs748494879
|
|
|
NM_001369.3(DNAH5):c.799-13dup
|
rs748494879
|
|
|
NM_001369.3(DNAH5):c.799-14C>T
|
|
|
|
NM_001369.3(DNAH5):c.799-15C>T
|
rs2547145255
|
|
|
NM_001369.3(DNAH5):c.799-16C>T
|
rs756103848
|
|
|
NM_001369.3(DNAH5):c.799-17del
|
rs769919659
|
|
|
NM_001369.3(DNAH5):c.799-18T>C
|
rs2547145307
|
|
|
NM_001369.3(DNAH5):c.799-269_1072del
|
|
|
|
NM_001369.3(DNAH5):c.799-4G>A
|
rs1467944534
|
|
|
NM_001369.3(DNAH5):c.799-8A>G
|
rs765624151
|
|
|
NM_001369.3(DNAH5):c.7992C>T (p.Ile2664=)
|
rs2126913357
|
|
|
NM_001369.3(DNAH5):c.7992del (p.Asn2665fs)
|
rs2126913378
|
|
|
NM_001369.3(DNAH5):c.7994A>G (p.Asn2665Ser)
|
rs774224537
|
|
|
NM_001369.3(DNAH5):c.7998G>A (p.Glu2666=)
|
rs148720124
|
|
|
NM_001369.3(DNAH5):c.7A>C (p.Arg3=)
|
rs2547214109
|
|
|
NM_001369.3(DNAH5):c.8000G>A (p.Trp2667Ter)
|
rs1757433662
|
|
|
NM_001369.3(DNAH5):c.8010+12C>A
|
rs1223018101
|
|
|
NM_001369.3(DNAH5):c.8010+12C>G
|
|
|
|
NM_001369.3(DNAH5):c.8010+14A>T
|
rs371543607
|
|
|
NM_001369.3(DNAH5):c.8010+15T>C
|
rs201977028
|
|
|
NM_001369.3(DNAH5):c.8010+15T>G
|
rs201977028
|
|
|
NM_001369.3(DNAH5):c.8010+1G>A
|
rs2546745461
|
|
|
NM_001369.3(DNAH5):c.8010+2T>C
|
rs2546745451
|
|
|
NM_001369.3(DNAH5):c.8010+8_8010+10del
|
rs2546745414
|
|
|
NM_001369.3(DNAH5):c.8011-10T>C
|
rs1439825630
|
|
|
NM_001369.3(DNAH5):c.8011-4G>A
|
rs1331845041
|
|
|
NM_001369.3(DNAH5):c.8011-6T>C
|
rs2546744332
|
|
|
NM_001369.3(DNAH5):c.8011-9C>G
|
rs1757386416
|
|
|
NM_001369.3(DNAH5):c.8015C>T (p.Thr2672Met)
|
rs1358728493
|
|
|
NM_001369.3(DNAH5):c.8016G>T (p.Thr2672=)
|
rs112594597
|
|
|
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.8030G>C (p.Arg2677Pro)
|
rs886043448
|
|
|
NM_001369.3(DNAH5):c.8032C>T (p.Gln2678Ter)
|
rs988596344
|
|
|
NM_001369.3(DNAH5):c.8039T>A (p.Met2680Lys)
|
rs143754999
|
|
|
NM_001369.3(DNAH5):c.8040G>C (p.Met2680Ile)
|
|
|
|
NM_001369.3(DNAH5):c.8043A>C (p.Glu2681Asp)
|
rs1468245529
|
|
|
NM_001369.3(DNAH5):c.8044C>T (p.Gln2682Ter)
|
rs1199634064
|
|
|
NM_001369.3(DNAH5):c.8052A>G (p.Gly2684=)
|
rs1757373857
|
|
|
NM_001369.3(DNAH5):c.8077G>A (p.Glu2693Lys)
|
rs1757368494
|
|
|
NM_001369.3(DNAH5):c.8092_8097del (p.Val2698_Asp2699del)
|
rs1757363484
|
|
|
NM_001369.3(DNAH5):c.8094G>C (p.Val2698=)
|
rs1561275330
|
|
|
NM_001369.3(DNAH5):c.8097C>T (p.Asp2699=)
|
rs2546743549
|
|
|
NM_001369.3(DNAH5):c.8098A>C (p.Ile2700Leu)
|
|
|
|
NM_001369.3(DNAH5):c.8109G>A (p.Leu2703=)
|
rs1354433472
|
|
|
NM_001369.3(DNAH5):c.8112A>G (p.Ala2704=)
|
rs1757361572
|
|
|
NM_001369.3(DNAH5):c.8121C>T (p.Ile2707=)
|
rs2546743363
|
|
|
NM_001369.3(DNAH5):c.8122C>T (p.His2708Tyr)
|
rs1757358342
|
|
|
NM_001369.3(DNAH5):c.8127T>C (p.Pro2709=)
|
rs1181593041
|
|
|
NM_001369.3(DNAH5):c.8132del (p.Gly2711fs)
|
rs2546743308
|
|
|
NM_001369.3(DNAH5):c.8133T>G (p.Gly2711=)
|
rs2126910344
|
|
|
NM_001369.3(DNAH5):c.8135del (p.Gly2712fs)
|
|
|
|
NM_001369.3(DNAH5):c.8141del (p.Asn2714fs)
|
rs2126910254
|
|
|
NM_001369.3(DNAH5):c.8145C>T (p.Asp2715=)
|
rs2546743209
|
|
|
NM_001369.3(DNAH5):c.8147T>C (p.Ile2716Thr)
|
rs746501395
|
|
|
NM_001369.3(DNAH5):c.8161_8162del (p.Lys2721fs)
|
rs2546743073
|
|
|
NM_001369.3(DNAH5):c.8166G>A (p.Arg2722=)
|
rs2126910081
|
|
|
NM_001369.3(DNAH5):c.8167C>T (p.Gln2723Ter)
|
rs1309660408
|
|
|
NM_001369.3(DNAH5):c.8170T>A (p.Phe2724Ile)
|
rs753702337
|
|
|
NM_001369.3(DNAH5):c.8176A>G (p.Ile2726Val)
|
rs756343680
|
|
|
NM_001369.3(DNAH5):c.8176A>T (p.Ile2726Leu)
|
rs756343680
|
|
|
NM_001369.3(DNAH5):c.8182A>G (p.Asn2728Asp)
|
|
|
|
NM_001369.3(DNAH5):c.8190G>C (p.Thr2730=)
|
rs752656841
|
|
|
NM_001369.3(DNAH5):c.8196C>T (p.Pro2732=)
|
rs1462731565
|
|
|
NM_001369.3(DNAH5):c.819G>C (p.Gln273His)
|
rs777081293
|
|
|
NM_001369.3(DNAH5):c.8214C>T (p.Asp2738=)
|
rs759913433
|
|
|
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.8217_8218insCTTCTGTGG (p.Lys2739_Ile2740insLeuLeuTrp)
|
rs748140396
|
|
|
NM_001369.3(DNAH5):c.8218A>C (p.Ile2740Leu)
|
|
|
|
NM_001369.3(DNAH5):c.8221_8224+9del
|
rs2546742706
|
|
|
NM_001369.3(DNAH5):c.8224+13A>G
|
rs2546742682
|
|
|
NM_001369.3(DNAH5):c.8224+14G>C
|
rs1354836451
|
|
|
NM_001369.3(DNAH5):c.8224+20G>C
|
rs1214325739
|
|
|
NM_001369.3(DNAH5):c.8225-10C>A
|
rs1266452931
|
|
|
NM_001369.3(DNAH5):c.8225-10C>G
|
rs1266452931
|
|
|
NM_001369.3(DNAH5):c.8225-10C>T
|
rs1266452931
|
|
|
NM_001369.3(DNAH5):c.8225-14T>C
|
rs1485757848
|
|
|
NM_001369.3(DNAH5):c.8225-17A>C
|
|
|
|
NM_001369.3(DNAH5):c.8225-1G>A
|
rs2546737746
|
|
|
NM_001369.3(DNAH5):c.8225-2A>G
|
rs2126901340
|
|
|
NM_001369.3(DNAH5):c.8225-6T>C
|
rs935438135
|
|
|
NM_001369.3(DNAH5):c.8225-6T>G
|
rs935438135
|
|
|
NM_001369.3(DNAH5):c.8225-8del
|
rs2126901397
|
|
|
NM_001369.3(DNAH5):c.8242C>T (p.His2748Tyr)
|
|
|
|
NM_001369.3(DNAH5):c.8246A>G (p.Tyr2749Cys)
|
rs1757110482
|
|
|
NM_001369.3(DNAH5):c.8250T>A (p.Cys2750Ter)
|
rs2126901167
|
|
|
NM_001369.3(DNAH5):c.825G>A (p.Leu275=)
|
rs2547144970
|
|
|
NM_001369.3(DNAH5):c.8261G>T (p.Gly2754Val)
|
rs546101625
|
|
|
NM_001369.3(DNAH5):c.8272G>T (p.Glu2758Ter)
|
rs2546737515
|
|
|
NM_001369.3(DNAH5):c.8277G>A (p.Val2759=)
|
rs2126900953
|
|
|
NM_001369.3(DNAH5):c.8277G>C (p.Val2759=)
|
rs2126900953
|
|
|
NM_001369.3(DNAH5):c.8286T>C (p.Ser2762=)
|
rs1757102574
|
|
|
NM_001369.3(DNAH5):c.8301G>A (p.Val2767=)
|
rs2546737309
|
|
|
NM_001369.3(DNAH5):c.8301G>T (p.Val2767=)
|
rs2546737309
|
|
|
NM_001369.3(DNAH5):c.8303C>T (p.Pro2768Leu)
|
rs151040029
|
|
|
NM_001369.3(DNAH5):c.8307G>T (p.Leu2769=)
|
rs2546737281
|
|
|
NM_001369.3(DNAH5):c.8312G>A (p.Arg2771His)
|
rs199643592
|
|
|
NM_001369.3(DNAH5):c.8316A>G (p.Arg2772=)
|
rs751595453
|
|
|
NM_001369.3(DNAH5):c.8319A>G (p.Leu2773=)
|
rs780285140
|
|
|
NM_001369.3(DNAH5):c.8321_8322insC (p.Trp2774fs)
|
rs1554050517
|
|
|
NM_001369.3(DNAH5):c.8328G>A (p.Met2776Ile)
|
rs1580266122
|
|
|
NM_001369.3(DNAH5):c.8331C>T (p.Thr2777=)
|
rs758934037
|
|
|
NM_001369.3(DNAH5):c.8334G>A (p.Lys2778=)
|
rs2546737028
|
|
|
NM_001369.3(DNAH5):c.8341del (p.Met2781fs)
|
rs2546736986
|
|
|
NM_001369.3(DNAH5):c.834G>T (p.Ala278=)
|
rs761192750
|
|
|
NM_001369.3(DNAH5):c.8358A>G (p.Ala2786=)
|
|
|
|
NM_001369.3(DNAH5):c.8360_8361insT (p.Lys2787fs)
|
rs1757084798
|
|
|
NM_001369.3(DNAH5):c.8366A>T (p.His2789Leu)
|
|
|
|
NM_001369.3(DNAH5):c.8369A>G (p.Tyr2790Cys)
|
|
|
|
NM_001369.3(DNAH5):c.8370T>C (p.Tyr2790=)
|
rs2546736793
|
|
|
NM_001369.3(DNAH5):c.8373G>T (p.Val2791=)
|
rs2546736781
|
|
|
NM_001369.3(DNAH5):c.8383C>G (p.Arg2795Gly)
|
|
|
|
NM_001369.3(DNAH5):c.8385del (p.Asp2796fs)
|
rs1178766548
|
|
|
NM_001369.3(DNAH5):c.8386G>C (p.Asp2796His)
|
rs2126899976
|
|
|
NM_001369.3(DNAH5):c.8388T>C (p.Asp2796=)
|
rs1580265726
|
|
|
NM_001369.3(DNAH5):c.8396G>C (p.Arg2799Pro)
|
rs1182948401
|
|
|
NM_001369.3(DNAH5):c.8397G>A (p.Arg2799=)
|
rs773814447
|
|
|
NM_001369.3(DNAH5):c.8397G>T (p.Arg2799=)
|
rs773814447
|
|
|
NM_001369.3(DNAH5):c.8400C>G (p.Val2800=)
|
rs2126899814
|
|
|
NM_001369.3(DNAH5):c.8400C>T (p.Val2800=)
|
rs2126899814
|
|
|
NM_001369.3(DNAH5):c.8404del (p.Gln2802fs)
|
|
|
|
NM_001369.3(DNAH5):c.8409A>G (p.Gly2803=)
|
rs2126899765
|
|
|
NM_001369.3(DNAH5):c.840C>T (p.Asp280=)
|
|
|
|
NM_001369.3(DNAH5):c.8410A>G (p.Met2804Val)
|
rs199629940
|
|
|
NM_001369.3(DNAH5):c.8442A>G (p.Glu2814=)
|
rs1239795172
|
|
|
NM_001369.3(DNAH5):c.8448+10A>G
|
rs2126899431
|
|
|
NM_001369.3(DNAH5):c.8448+12T>C
|
rs1178876702
|
|
|
NM_001369.3(DNAH5):c.8448+15A>G
|
rs747226525
|
|
|
NM_001369.3(DNAH5):c.8448+8A>G
|
rs1390893492
|
|
|
NM_001369.3(DNAH5):c.8449-13A>G
|
rs2546724777
|
|
|
NM_001369.3(DNAH5):c.8449-14T>C
|
rs2546724781
|
|
|
NM_001369.3(DNAH5):c.8449-6C>T
|
rs2126883185
|
|
|
NM_001369.3(DNAH5):c.8449-7T>C
|
rs2126883195
|
|
|
NM_001369.3(DNAH5):c.8449G>T (p.Asp2817Tyr)
|
rs745885469
|
|
|
NM_001369.3(DNAH5):c.8460G>A (p.Lys2820=)
|
rs779140703
|
|
|
NM_001369.3(DNAH5):c.8461C>T (p.Leu2821=)
|
rs2546724649
|
|
|
NM_001369.3(DNAH5):c.8465G>A (p.Trp2822Ter)
|
rs1060501455
|
|
|
NM_001369.3(DNAH5):c.8469G>A (p.Lys2823=)
|
rs772669702
|
|
|
NM_001369.3(DNAH5):c.846G>T (p.Gly282=)
|
rs748702437
|
|
|
NM_001369.3(DNAH5):c.8477del (p.Cys2826fs)
|
rs2546724583
|
|
|
NM_001369.3(DNAH5):c.8488A>G (p.Ile2830Val)
|
|
|
|
NM_001369.3(DNAH5):c.8489_8490dup (p.Ala2831Ter)
|
rs2126882899
|
|
|
NM_001369.3(DNAH5):c.8496C>T (p.Asp2832=)
|
rs2126882852
|
|
|
NM_001369.3(DNAH5):c.8497C>A (p.Arg2833Ser)
|
rs766481283
|
|
|
NM_001369.3(DNAH5):c.849A>T (p.Pro283=)
|
rs1776999589
|
|
|
NM_001369.3(DNAH5):c.850C>T (p.Arg284Ter)
|
rs777361601
|
|
|
NM_001369.3(DNAH5):c.8516A>G (p.Asp2839Gly)
|
rs2546724275
|
|
|
NM_001369.3(DNAH5):c.8528T>C (p.Phe2843Ser)
|
rs77377082
|
|
|
NM_001369.3(DNAH5):c.8530G>A (p.Asp2844Asn)
|
rs2126882668
|
|
|
NM_001369.3(DNAH5):c.8534dup (p.Ala2846fs)
|
rs2546724200
|
|
|
NM_001369.3(DNAH5):c.8544A>C (p.Val2848=)
|
rs1756492637
|
|
|
NM_001369.3(DNAH5):c.854C>G (p.Ala285Gly)
|
rs748080642
|
|
|
NM_001369.3(DNAH5):c.8552T>C (p.Val2851Ala)
|
rs1756491046
|
|
|
NM_001369.3(DNAH5):c.8553A>G (p.Val2851=)
|
rs1460579595
|
|
|
NM_001369.3(DNAH5):c.8556G>A (p.Glu2852=)
|
rs1186570443
|
|
|
NM_001369.3(DNAH5):c.8562G>A (p.Glu2854=)
|
rs2126882462
|
|
|
NM_001369.3(DNAH5):c.8568T>C (p.Gly2856=)
|
rs1239991919
|
|
|
NM_001369.3(DNAH5):c.8568T>G (p.Gly2856=)
|
rs1239991919
|
|
|
NM_001369.3(DNAH5):c.8574G>A (p.Glu2858=)
|
rs2126882359
|
|
|
NM_001369.3(DNAH5):c.8575A>G (p.Lys2859Glu)
|
rs776408335
|
|
|
NM_001369.3(DNAH5):c.8580A>G (p.Lys2860=)
|
rs2126882315
|
|
|
NM_001369.3(DNAH5):c.8580del (p.Lys2860fs)
|
|
|
|
NM_001369.3(DNAH5):c.8583C>G (p.Leu2861=)
|
rs951265451
|
|
|
NM_001369.3(DNAH5):c.8584T>C (p.Leu2862=)
|
rs1756484992
|
|
|
NM_001369.3(DNAH5):c.8587G>A (p.Val2863Met)
|
rs1756483888
|
|
|
NM_001369.3(DNAH5):c.8589G>A (p.Val2863=)
|
rs760542094
|
|
|
NM_001369.3(DNAH5):c.8596G>A (p.Gly2866Arg)
|
rs2546723820
|
|
|
NM_001369.3(DNAH5):c.859C>T (p.Leu287=)
|
rs2547144647
|
|
|
NM_001369.3(DNAH5):c.8606_8607del (p.Thr2869fs)
|
rs1554049087
|
|
|
NM_001369.3(DNAH5):c.8607A>G (p.Thr2869=)
|
rs2546723755
|
|
|
NM_001369.3(DNAH5):c.8610T>C (p.Tyr2870=)
|
rs1277735188
|
|
|
NM_001369.3(DNAH5):c.8618A>G (p.Asp2873Gly)
|
rs1347729037
|
|
|
NM_001369.3(DNAH5):c.8630del (p.Asp2877fs)
|
rs2546723616
|
|
|
NM_001369.3(DNAH5):c.8631T>C (p.Asp2877=)
|
rs770895790
|
|
|
NM_001369.3(DNAH5):c.8633C>T (p.Ala2878Val)
|
rs1756476635
|
|
|
NM_001369.3(DNAH5):c.8634A>T (p.Ala2878=)
|
rs749428414
|
|
|
NM_001369.3(DNAH5):c.8636C>T (p.Pro2879Leu)
|
|
|
|
NM_001369.3(DNAH5):c.8637T>C (p.Pro2879=)
|
rs2546723509
|
|
|
NM_001369.3(DNAH5):c.8642del (p.Ala2881fs)
|
rs2546723476
|
|
|
NM_001369.3(DNAH5):c.8643T>C (p.Ala2881=)
|
rs1756474070
|
|
|
NM_001369.3(DNAH5):c.8647+3A>G
|
rs1580248475
|
|
|
NM_001369.3(DNAH5):c.8647+8A>C
|
rs758003240
|
|
|
NM_001369.3(DNAH5):c.8647+8A>G
|
|
|
|
NM_001369.3(DNAH5):c.8648-10C>T
|
|
|
|
NM_001369.3(DNAH5):c.8648-2A>T
|
rs2546713854
|
|
|
NM_001369.3(DNAH5):c.8648-8del
|
rs1756011074
|
|
|
NM_001369.3(DNAH5):c.864G>A (p.Glu288=)
|
rs2151990470
|
|
|
NM_001369.3(DNAH5):c.8679A>G (p.Thr2893=)
|
rs2546713659
|
|
|
NM_001369.3(DNAH5):c.8685_8686insCC (p.Ile2896fs)
|
rs2546713623
|
|
|
NM_001369.3(DNAH5):c.8690A>G (p.Tyr2897Cys)
|
rs768985491
|
|
|
NM_001369.3(DNAH5):c.8706T>C (p.Ser2902=)
|
rs2546713423
|
|
|
NM_001369.3(DNAH5):c.8715C>T (p.His2905=)
|
rs778426195
|
|
|
NM_001369.3(DNAH5):c.8721A>G (p.Lys2907=)
|
rs2126869301
|
|
|
NM_001369.3(DNAH5):c.8722G>A (p.Glu2908Lys)
|
rs2546713278
|
|
|
NM_001369.3(DNAH5):c.8724G>A (p.Glu2908=)
|
rs753221293
|
|
|
NM_001369.3(DNAH5):c.8726G>T (p.Arg2909Leu)
|
rs756069405
|
|
|
NM_001369.3(DNAH5):c.8730G>A (p.Leu2910=)
|
rs2546713221
|
|
|
NM_001369.3(DNAH5):c.8739C>T (p.Phe2913=)
|
rs376250319
|
|
|
NM_001369.3(DNAH5):c.8741T>C (p.Leu2914Pro)
|
|
|
|
NM_001369.3(DNAH5):c.8742G>A (p.Leu2914=)
|
rs2126869139
|
|
|
NM_001369.3(DNAH5):c.8745G>A (p.Gln2915=)
|
rs1755983827
|
|
|
NM_001369.3(DNAH5):c.8748C>G (p.Leu2916=)
|
rs556119081
|
|
|
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.8752A>G (p.Asn2918Asp)
|
rs1755979769
|
|
|
NM_001369.3(DNAH5):c.8755G>T (p.Glu2919Ter)
|
rs796964258
|
|
|
NM_001369.3(DNAH5):c.8757G>A (p.Glu2919=)
|
rs115776799
|
|
|
NM_001369.3(DNAH5):c.8760C>T (p.Ser2920=)
|
rs769218397
|
|
|
NM_001369.3(DNAH5):c.8772C>G (p.Ala2924=)
|
rs552458966
|
|
|
NM_001369.3(DNAH5):c.8775C>G (p.Gly2925=)
|
rs2126868777
|
|
|
NM_001369.3(DNAH5):c.877dup (p.Arg293fs)
|
rs781566109
|
|
|
NM_001369.3(DNAH5):c.8781C>T (p.Asp2927=)
|
rs2126868696
|
|
|
NM_001369.3(DNAH5):c.8782_8786dup (p.Phe2930fs)
|
rs1755969817
|
|
|
NM_001369.3(DNAH5):c.8787G>A (p.Val2929=)
|
rs2126868656
|
|
|
NM_001369.3(DNAH5):c.8799T>C (p.Asp2933=)
|
rs763034399
|
|
|
NM_001369.3(DNAH5):c.87G>A (p.Lys29=)
|
rs2152009000
|
|
|
NM_001369.3(DNAH5):c.8805G>A (p.Met2935Ile)
|
rs77874614
|
|
|
NM_001369.3(DNAH5):c.8808T>G (p.Val2936=)
|
rs2126868492
|
|
|
NM_001369.3(DNAH5):c.8814A>G (p.Leu2938=)
|
rs2546712570
|
|
|
NM_001369.3(DNAH5):c.8817C>T (p.Val2939=)
|
|
|
|
NM_001369.3(DNAH5):c.8818A>C (p.Lys2940Gln)
|
rs932286708
|
|
|
NM_001369.3(DNAH5):c.8820+10C>T
|
|
|
|
NM_001369.3(DNAH5):c.8820+11C>A
|
rs1250147150
|
|
|
NM_001369.3(DNAH5):c.8820+13C>G
|
rs376489412
|
|
|
NM_001369.3(DNAH5):c.8820+13C>T
|
rs376489412
|
|
|
NM_001369.3(DNAH5):c.8820+16T>C
|
|
|
|
NM_001369.3(DNAH5):c.8820+19G>A
|
|
|
|
NM_001369.3(DNAH5):c.8820+6G>A
|
rs201287534
|
|
|
NM_001369.3(DNAH5):c.8820+8A>G
|
rs775482386
|
|
|
NM_001369.3(DNAH5):c.8821-14G>A
|
rs769508388
|
|
|
NM_001369.3(DNAH5):c.8821-14G>C
|
|
|
|
NM_001369.3(DNAH5):c.8821-1G>A
|
rs1060501454
|
|
|
NM_001369.3(DNAH5):c.8821-1G>C
|
rs1060501454
|
|
|
NM_001369.3(DNAH5):c.8821-1G>T
|
rs1060501454
|
|
|
NM_001369.3(DNAH5):c.8821-29_8869del
|
rs2546696615
|
|
|
NM_001369.3(DNAH5):c.8821-5T>C
|
rs368465529
|
|
|
NM_001369.3(DNAH5):c.8821-8T>A
|
rs747829743
|
|
|
NM_001369.3(DNAH5):c.8821-923_8868del
|
rs1755013971
|
|
|
NM_001369.3(DNAH5):c.8821-9A>G
|
rs371866712
|
|
|
NM_001369.3(DNAH5):c.882C>A (p.Leu294=)
|
|
|
|
NM_001369.3(DNAH5):c.882C>T (p.Leu294=)
|
rs754754549
|
|
|
NM_001369.3(DNAH5):c.8832C>T (p.Val2944=)
|
rs1457090586
|
|
|
NM_001369.3(DNAH5):c.8837G>T (p.Arg2946Leu)
|
|
|
|
NM_001369.3(DNAH5):c.8841T>C (p.Thr2947=)
|
rs2546696862
|
|
|
NM_001369.3(DNAH5):c.8843C>T (p.Pro2948Leu)
|
rs922452029
|
|
|
NM_001369.3(DNAH5):c.8847G>A (p.Gln2949=)
|
rs1407127938
|
|
|
NM_001369.3(DNAH5):c.8848G>T (p.Gly2950Ter)
|
rs1338867680
|
|
|
NM_001369.3(DNAH5):c.884C>A (p.Ser295Tyr)
|
rs375537280
|
|
|
NM_001369.3(DNAH5):c.8850A>G (p.Gly2950=)
|
rs2546696753
|
|
|
NM_001369.3(DNAH5):c.885dup (p.Lys296fs)
|
rs2547144420
|
|
|
NM_001369.3(DNAH5):c.8863G>A (p.Val2955Ile)
|
rs759756803
|
|
|
NM_001369.3(DNAH5):c.8863G>C (p.Val2955Leu)
|
rs759756803
|
|
|
NM_001369.3(DNAH5):c.8864del (p.Val2955fs)
|
rs1561241156
|
|
|
NM_001369.3(DNAH5):c.8866G>C (p.Gly2956Arg)
|
|
|
|
NM_001369.3(DNAH5):c.8869del (p.Val2957fs)
|
rs1580203399
|
|
|
NM_001369.3(DNAH5):c.886A>T (p.Lys296Ter)
|
rs545061430
|
|
|
NM_001369.3(DNAH5):c.8870T>C (p.Val2957Ala)
|
|
|
|
NM_001369.3(DNAH5):c.8875G>T (p.Gly2959Ter)
|
rs147443285
|
|
|
NM_001369.3(DNAH5):c.8898G>T (p.Thr2966=)
|
rs111995400
|
|
|
NM_001369.3(DNAH5):c.88C>A (p.Arg30=)
|
rs114220185
|
|
|
NM_001369.3(DNAH5):c.8901G>A (p.Arg2967=)
|
rs778046366
|
|
|
NM_001369.3(DNAH5):c.893_896del (p.Asn298fs)
|
|
|
|
NM_001369.3(DNAH5):c.8947dup (p.Thr2983fs)
|
rs2546695945
|
|
|
NM_001369.3(DNAH5):c.894C>T (p.Asn298=)
|
rs116995413
|
|
|
NM_001369.3(DNAH5):c.8951+11T>A
|
rs775024219
|
|
|
NM_001369.3(DNAH5):c.8951+1G>A
|
rs207465619
|
|
|
NM_001369.3(DNAH5):c.8951+7A>G
|
rs1297875739
|
|
|
NM_001369.3(DNAH5):c.8951+8C>G
|
rs905378511
|
|
|
NM_001369.3(DNAH5):c.8951+9del
|
rs2126836632
|
|
|
NM_001369.3(DNAH5):c.8952-11T>C
|
rs2546682865
|
|
|
NM_001369.3(DNAH5):c.8952-6C>T
|
rs2126814564
|
|
|
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.8964A>G (p.Thr2988=)
|
rs773867466
|
|
|
NM_001369.3(DNAH5):c.8966C>G (p.Ser2989Ter)
|
rs1754250771
|
|
|
NM_001369.3(DNAH5):c.8966C>T (p.Ser2989Leu)
|
|
|
|
NM_001369.3(DNAH5):c.8971C>T (p.Leu2991=)
|
rs1754249932
|
|
|
NM_001369.3(DNAH5):c.8972T>C (p.Leu2991Pro)
|
|
|
|
NM_001369.3(DNAH5):c.8973G>A (p.Leu2991=)
|
rs2546682572
|
|
|
NM_001369.3(DNAH5):c.8982T>G (p.Asp2994Glu)
|
rs773014523
|
|
|
NM_001369.3(DNAH5):c.8988G>A (p.Lys2996=)
|
rs2546682499
|
|
|
NM_001369.3(DNAH5):c.898C>A (p.Leu300Ile)
|
rs1269995144
|
|
|
NM_001369.3(DNAH5):c.8994G>A (p.Leu2998=)
|
rs555690882
|
|
|
NM_001369.3(DNAH5):c.8999del (p.Arg3000fs)
|
rs1580180757
|
|
|
NM_001369.3(DNAH5):c.9002C>T (p.Thr3001Ile)
|
rs1296320011
|
|
|
NM_001369.3(DNAH5):c.9003A>G (p.Thr3001=)
|
rs2126814142
|
|
|
NM_001369.3(DNAH5):c.9003_9004insAAACCTT (p.Ala3002fs)
|
rs2126814118
|
|
|
NM_001369.3(DNAH5):c.9008G>A (p.Gly3003Asp)
|
rs2546682297
|
|
|
NM_001369.3(DNAH5):c.9009T>C (p.Gly3003=)
|
rs758932371
|
|
|
NM_001369.3(DNAH5):c.9010C>A (p.Gln3004Lys)
|
rs1754241068
|
|
|
NM_001369.3(DNAH5):c.9019A>T (p.Lys3007Ter)
|
rs1754239306
|
|
|
NM_001369.3(DNAH5):c.9039dup (p.Thr3014fs)
|
rs1754234425
|
|
|
NM_001369.3(DNAH5):c.9046A>T (p.Asn3016Tyr)
|
|
|
|
NM_001369.3(DNAH5):c.9048T>C (p.Asn3016=)
|
rs1580180346
|
|
|
NM_001369.3(DNAH5):c.9056A>G (p.Lys3019Arg)
|
rs1754228264
|
|
|
NM_001369.3(DNAH5):c.9063G>A (p.Glu3021=)
|
|
|
|
NM_001369.3(DNAH5):c.9065C>A (p.Ser3022Ter)
|
rs1754226636
|
|
|
NM_001369.3(DNAH5):c.9066A>G (p.Ser3022=)
|
rs2126813671
|
|
|
NM_001369.3(DNAH5):c.9070T>C (p.Leu3024=)
|
rs2546681888
|
|
|
NM_001369.3(DNAH5):c.9071T>G (p.Leu3024Trp)
|
rs2546681874
|
|
|
NM_001369.3(DNAH5):c.9077A>C (p.Tyr3026Ser)
|
rs751032242
|
|
|
NM_001369.3(DNAH5):c.9078T>C (p.Tyr3026=)
|
rs2126813598
|
|
|
NM_001369.3(DNAH5):c.9091T>C (p.Leu3031=)
|
|
|
|
NM_001369.3(DNAH5):c.909A>C (p.Gln303His)
|
rs1321850022
|
|
|
NM_001369.3(DNAH5):c.90G>A (p.Arg30=)
|
rs1778382353
|
|
|
NM_001369.3(DNAH5):c.90_105dup (p.Arg36fs)
|
rs1778379197
|
|
|
NM_001369.3(DNAH5):c.9102T>C (p.Gly3034=)
|
rs1754221145
|
|
|
NM_001369.3(DNAH5):c.9105+10C>T
|
rs1309426620
|
|
|
NM_001369.3(DNAH5):c.9105+18C>G
|
|
|
|
NM_001369.3(DNAH5):c.9105+2T>C
|
rs1580179985
|
|
|
NM_001369.3(DNAH5):c.9105+5G>C
|
|
|
|
NM_001369.3(DNAH5):c.9105+8C>T
|
rs2126813474
|
|
|
NM_001369.3(DNAH5):c.9106-15G>A
|
rs751187327
|
|
|
NM_001369.3(DNAH5):c.9106-17C>T
|
rs2546679892
|
|
|
NM_001369.3(DNAH5):c.9106-1G>A
|
rs757846582
|
|
|
NM_001369.3(DNAH5):c.9106-20T>C
|
rs2546679910
|
|
|
NM_001369.3(DNAH5):c.9106-4T>A
|
rs2126811393
|
|
|
NM_001369.3(DNAH5):c.9106-4del
|
rs2546679823
|
|
|
NM_001369.3(DNAH5):c.9106-6T>C
|
rs2546679837
|
|
|
NM_001369.3(DNAH5):c.9113_9117del (p.Asn3038fs)
|
rs1466693703
|
|
|
NM_001369.3(DNAH5):c.9123T>C (p.Ala3041=)
|
rs1038405124
|
|
|
NM_001369.3(DNAH5):c.9123T>G (p.Ala3041=)
|
rs1038405124
|
|
|
NM_001369.3(DNAH5):c.9124C>T (p.Arg3042Ter)
|
rs760595654
|
|
|
NM_001369.3(DNAH5):c.9125G>A (p.Arg3042Gln)
|
rs200839716
|
|
|
NM_001369.3(DNAH5):c.9125G>T (p.Arg3042Leu)
|
rs200839716
|
|
|
NM_001369.3(DNAH5):c.912G>A (p.Leu304=)
|
rs1776989378
|
|
|
NM_001369.3(DNAH5):c.9147T>C (p.Asn3049=)
|
rs886038481
|
|
|
NM_001369.3(DNAH5):c.9151G>A (p.Asp3051Asn)
|
rs1171709721
|
|
|
NM_001369.3(DNAH5):c.9156G>A (p.Leu3052=)
|
rs1284767820
|
|
|
NM_001369.3(DNAH5):c.9157G>A (p.Ala3053Thr)
|
rs1244861228
|
|
|
NM_001369.3(DNAH5):c.9159A>C (p.Ala3053=)
|
rs2546679415
|
|
|
NM_001369.3(DNAH5):c.9159A>G (p.Ala3053=)
|
rs2546679415
|
|
|
NM_001369.3(DNAH5):c.9160T>A (p.Ser3054Thr)
|
rs1323156965
|
|
|
NM_001369.3(DNAH5):c.9165C>T (p.Val3055=)
|
rs1580177053
|
|
|
NM_001369.3(DNAH5):c.9166A>G (p.Met3056Val)
|
rs374707562
|
|
|
NM_001369.3(DNAH5):c.9183C>T (p.Pro3061=)
|
rs371984312
|
|
|
NM_001369.3(DNAH5):c.9183del (p.Arg3062fs)
|
|
|
|
NM_001369.3(DNAH5):c.9186G>A (p.Arg3062=)
|
rs2546679316
|
|
|
NM_001369.3(DNAH5):c.9186del (p.Arg3062fs)
|
rs2546679327
|
|
|
NM_001369.3(DNAH5):c.918C>T (p.Ser306=)
|
rs1776988774
|
|
|
NM_001369.3(DNAH5):c.9196A>G (p.Thr3066Ala)
|
rs1299785469
|
|
|
NM_001369.3(DNAH5):c.919C>T (p.Pro307Ser)
|
rs2547144228
|
|
|
NM_001369.3(DNAH5):c.9201T>C (p.Asn3067=)
|
rs2546679183
|
|
|
NM_001369.3(DNAH5):c.9204G>A (p.Glu3068=)
|
rs2126810830
|
|
|
NM_001369.3(DNAH5):c.9207C>T (p.Asn3069=)
|
|
|
|
NM_001369.3(DNAH5):c.920C>T (p.Pro307Leu)
|
|
|
|
NM_001369.3(DNAH5):c.9210G>C (p.Leu3070=)
|
rs1580176858
|
|
|
NM_001369.3(DNAH5):c.9210G>T (p.Leu3070=)
|
rs1580176858
|
|
|
NM_001369.3(DNAH5):c.9214G>A (p.Asp3072Asn)
|
rs749838880
|
|
|
NM_001369.3(DNAH5):c.9215A>C (p.Asp3072Ala)
|
|
|
|
NM_001369.3(DNAH5):c.9216C>T (p.Asp3072=)
|
rs778518716
|
|
|
NM_001369.3(DNAH5):c.921G>T (p.Pro307=)
|
rs1247275415
|
|
|
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.922del (p.Asp308fs)
|
rs2547144206
|
|
|
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.9231G>C (p.Arg3077=)
|
rs2126810663
|
|
|
NM_001369.3(DNAH5):c.9234C>T (p.Val3078=)
|
rs1488280893
|
|
|
NM_001369.3(DNAH5):c.9235C>T (p.Arg3079Ter)
|
rs1175877764
|
|
|
NM_001369.3(DNAH5):c.9250A>G (p.Ile3084Val)
|
rs754352566
|
|
|
NM_001369.3(DNAH5):c.9252T>A (p.Ile3084=)
|
rs1318129305
|
|
|
NM_001369.3(DNAH5):c.9258C>T (p.Leu3086=)
|
rs2546678953
|
|
|
NM_001369.3(DNAH5):c.925G>A (p.Val309Met)
|
rs776025009
|
|
|
NM_001369.3(DNAH5):c.9270A>G (p.Pro3090=)
|
rs1412492545
|
|
|
NM_001369.3(DNAH5):c.9272dup (p.Glu3093fs)
|
|
|
|
NM_001369.3(DNAH5):c.9273G>A (p.Val3091=)
|
rs771017031
|
|
|
NM_001369.3(DNAH5):c.9273G>C (p.Val3091=)
|
rs771017031
|
|
|
NM_001369.3(DNAH5):c.9273G>T (p.Val3091=)
|
rs771017031
|
|
|
NM_001369.3(DNAH5):c.9276G>A (p.Gly3092=)
|
rs2126810381
|
|
|
NM_001369.3(DNAH5):c.9279G>A (p.Glu3093=)
|
rs2126810329
|
|
|
NM_001369.3(DNAH5):c.9280A>T (p.Lys3094Ter)
|
rs2126810319
|
|
|
NM_001369.3(DNAH5):c.9286C>A (p.Arg3096=)
|
rs868444911
|
|
|
NM_001369.3(DNAH5):c.9291C>T (p.Asn3097=)
|
rs2126810276
|
|
|
NM_001369.3(DNAH5):c.9298T>C (p.Leu3100=)
|
rs2126810249
|
|
|
NM_001369.3(DNAH5):c.9306C>T (p.Phe3102=)
|
rs773708332
|
|
|
NM_001369.3(DNAH5):c.9312C>G (p.Ala3104=)
|
rs1754106295
|
|
|
NM_001369.3(DNAH5):c.9312C>T (p.Ala3104=)
|
rs1754106295
|
|
|
NM_001369.3(DNAH5):c.9315A>C (p.Leu3105=)
|
rs2546678758
|
|
|
NM_001369.3(DNAH5):c.9330A>T (p.Thr3110=)
|
rs2546678705
|
|
|
NM_001369.3(DNAH5):c.9332T>C (p.Ile3111Thr)
|
rs777061272
|
|
|
NM_001369.3(DNAH5):c.9339G>A (p.Trp3113Ter)
|
rs771586458
|
|
|
NM_001369.3(DNAH5):c.9354dup (p.Lys3119fs)
|
rs2546678617
|
|
|
NM_001369.3(DNAH5):c.9365del (p.Ala3121_Leu3122insTer)
|
rs1060501460
|
|
|
NM_001369.3(DNAH5):c.936G>A (p.Val312=)
|
rs2151990289
|
|
|
NM_001369.3(DNAH5):c.936G>C (p.Val312=)
|
rs2151990289
|
|
|
NM_001369.3(DNAH5):c.936G>T (p.Val312=)
|
rs2151990289
|
|
|
NM_001369.3(DNAH5):c.9373+13A>G
|
rs2546678484
|
|
|
NM_001369.3(DNAH5):c.9373+1G>C
|
rs1754098584
|
|
|
NM_001369.3(DNAH5):c.9373+1G>T
|
rs1754098584
|
|
|
NM_001369.3(DNAH5):c.9373+9G>A
|
rs2126809893
|
|
|
NM_001369.3(DNAH5):c.9374-2A>C
|
|
|
|
NM_001369.3(DNAH5):c.9374-2A>T
|
rs1561215953
|
|
|
NM_001369.3(DNAH5):c.9374-8C>T
|
rs770720842
|
|
|
NM_001369.3(DNAH5):c.9374-9T>A
|
|
|
|
NM_001369.3(DNAH5):c.9375G>A (p.Val3125=)
|
|
|
|
NM_001369.3(DNAH5):c.9387C>T (p.Phe3129=)
|
rs2546663683
|
|
|
NM_001369.3(DNAH5):c.9393T>G (p.Thr3131=)
|
rs2546663651
|
|
|
NM_001369.3(DNAH5):c.9396del (p.Tyr3133fs)
|
|
|
|
NM_001369.3(DNAH5):c.9399T>A (p.Tyr3133Ter)
|
rs1753258436
|
|
|
NM_001369.3(DNAH5):c.93T>A (p.Ala31=)
|
rs2152008979
|
|
|
NM_001369.3(DNAH5):c.93T>C (p.Ala31=)
|
rs2152008979
|
|
|
NM_001369.3(DNAH5):c.9402T>C (p.Asp3134=)
|
rs2546663605
|
|
|
NM_001369.3(DNAH5):c.9411C>T (p.Cys3137=)
|
rs2546663552
|
|
|
NM_001369.3(DNAH5):c.9420A>G (p.Glu3140=)
|
rs2546663527
|
|
|
NM_001369.3(DNAH5):c.9423C>A (p.Ile3141=)
|
rs2126786434
|
|
|
NM_001369.3(DNAH5):c.9432G>A (p.Glu3144=)
|
rs1753252767
|
|
|
NM_001369.3(DNAH5):c.9449del (p.Gly3150fs)
|
rs727504802
|
|
|
NM_001369.3(DNAH5):c.9450C>T (p.Gly3150=)
|
rs2546663402
|
|
|
NM_001369.3(DNAH5):c.9452C>G (p.Ser3151Cys)
|
rs1243099431
|
|
|
NM_001369.3(DNAH5):c.9465G>A (p.Gly3155=)
|
rs1753248687
|
|
|
NM_001369.3(DNAH5):c.9465_9466del (p.Val3156fs)
|
rs2546663331
|
|
|
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.9489T>C (p.Tyr3163=)
|
rs185605880
|
|
|
NM_001369.3(DNAH5):c.9489T>G (p.Tyr3163Ter)
|
rs185605880
|
|
|
NM_001369.3(DNAH5):c.948T>A (p.Leu316=)
|
rs2151990260
|
|
|
NM_001369.3(DNAH5):c.9511A>C (p.Thr3171Pro)
|
rs149681419
|
|
|
NM_001369.3(DNAH5):c.9511A>G (p.Thr3171Ala)
|
rs149681419
|
|
|
NM_001369.3(DNAH5):c.9514dup (p.His3172fs)
|
rs1561215326
|
|
|
NM_001369.3(DNAH5):c.951G>C (p.Ala317=)
|
rs768621532
|
|
|
NM_001369.3(DNAH5):c.9522G>T (p.Thr3174=)
|
rs35233147
|
|
|
NM_001369.3(DNAH5):c.952del (p.Ala318fs)
|
rs2547144024
|
|
|
NM_001369.3(DNAH5):c.9530C>A (p.Ser3177Ter)
|
rs2546663053
|
|
|
NM_001369.3(DNAH5):c.9531A>G (p.Ser3177=)
|
rs764594038
|
|
|
NM_001369.3(DNAH5):c.9534C>A (p.Tyr3178Ter)
|
rs1580150353
|
|
|
NM_001369.3(DNAH5):c.9538_9539delinsCT (p.Ser3180Leu)
|
rs2546662983
|
|
|
NM_001369.3(DNAH5):c.9540del (p.Phe3181fs)
|
rs2126785787
|
|
|
NM_001369.3(DNAH5):c.9543T>C (p.Phe3181=)
|
rs2126785777
|
|
|
NM_001369.3(DNAH5):c.9546T>C (p.Ile3182=)
|
rs761116750
|
|
|
NM_001369.3(DNAH5):c.954G>A (p.Ala318=)
|
rs1776983489
|
|
|
NM_001369.3(DNAH5):c.9557del (p.Lys3186fs)
|
rs2126785666
|
|
|
NM_001369.3(DNAH5):c.9564A>T (p.Ile3188=)
|
rs776014245
|
|
|
NM_001369.3(DNAH5):c.9576G>A (p.Lys3192=)
|
rs1478296413
|
|
|
NM_001369.3(DNAH5):c.9578A>T (p.His3193Leu)
|
|
|
|
NM_001369.3(DNAH5):c.9580G>T (p.Val3194Leu)
|
rs2126785528
|
|
|
NM_001369.3(DNAH5):c.9588G>A (p.Val3196=)
|
rs2546662651
|
|
|
NM_001369.3(DNAH5):c.958_959dup (p.Lys322fs)
|
rs752110126
|
|
|
NM_001369.3(DNAH5):c.9594C>A (p.Thr3198=)
|
rs1316399548
|
|
|
NM_001369.3(DNAH5):c.9594C>T (p.Thr3198=)
|
rs1316399548
|
|
|
NM_001369.3(DNAH5):c.9601A>G (p.Asn3201Asp)
|
|
|
|
NM_001369.3(DNAH5):c.9605+12G>A
|
|
|
|
NM_001369.3(DNAH5):c.9605+14T>A
|
rs1369794889
|
|
|
NM_001369.3(DNAH5):c.9605+14T>C
|
rs1369794889
|
|
|
NM_001369.3(DNAH5):c.9605+15C>G
|
rs2546662485
|
|
|
NM_001369.3(DNAH5):c.9605+1del
|
rs2546662562
|
|
|
NM_001369.3(DNAH5):c.9606-18T>C
|
rs374561149
|
|
|
NM_001369.3(DNAH5):c.9606-18T>G
|
rs374561149
|
|
|
NM_001369.3(DNAH5):c.9606-2A>G
|
rs755550738
|
|
|
NM_001369.3(DNAH5):c.9606-7A>G
|
rs1753043312
|
|
|
NM_001369.3(DNAH5):c.9611A>C (p.Asn3204Thr)
|
rs1438130564
|
|
|
NM_001369.3(DNAH5):c.9612T>C (p.Asn3204=)
|
rs751937045
|
|
|
NM_001369.3(DNAH5):c.9618A>C (p.Gly3206=)
|
rs1236064425
|
|
|
NM_001369.3(DNAH5):c.9620del (p.Leu3207fs)
|
rs769691641
|
|
|
NM_001369.3(DNAH5):c.9624A>G (p.Glu3208=)
|
rs2126779894
|
|
|
NM_001369.3(DNAH5):c.9627G>A (p.Lys3209=)
|
rs760165157
|
|
|
NM_001369.3(DNAH5):c.9630C>G (p.Leu3210=)
|
rs910986442
|
|
|
NM_001369.3(DNAH5):c.9642A>C (p.Ser3214=)
|
rs2546658963
|
|
|
NM_001369.3(DNAH5):c.9652G>T (p.Ala3218Ser)
|
|
|
|
NM_001369.3(DNAH5):c.9654A>G (p.Ala3218=)
|
rs2546658901
|
|
|
NM_001369.3(DNAH5):c.9655G>A (p.Ala3219Thr)
|
rs1554040804
|
|
|
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.9682G>T (p.Glu3228Ter)
|
rs2126779627
|
|
|
NM_001369.3(DNAH5):c.9702C>T (p.Ala3234=)
|
rs2546658647
|
|
|
NM_001369.3(DNAH5):c.9704A>G (p.Asn3235Ser)
|
rs142633108
|
|
|
NM_001369.3(DNAH5):c.9711A>G (p.Lys3237=)
|
rs2126779434
|
|
|
NM_001369.3(DNAH5):c.9720+20T>G
|
rs752153203
|
|
|
NM_001369.3(DNAH5):c.9720+4G>A
|
rs2546658515
|
|
|
NM_001369.3(DNAH5):c.9720+9G>C
|
|
|
|
NM_001369.3(DNAH5):c.9720G>T (p.Met3240Ile)
|
rs2546658536
|
|
|
NM_001369.3(DNAH5):c.9721-14T>C
|
rs2546656784
|
|
|
NM_001369.3(DNAH5):c.9721-17G>C
|
rs1388523638
|
|
|
NM_001369.3(DNAH5):c.9721-18T>C
|
rs1302086418
|
|
|
NM_001369.3(DNAH5):c.9721-1G>C
|
rs2546656725
|
|
|
NM_001369.3(DNAH5):c.9721-5_9721-4del
|
rs2126776978
|
|
|
NM_001369.3(DNAH5):c.9721-6A>C
|
rs2126776997
|
|
|
NM_001369.3(DNAH5):c.9721-8del
|
rs560450857
|
|
|
NM_001369.3(DNAH5):c.972G>A (p.Leu324=)
|
rs757404057
|
|
|
NM_001369.3(DNAH5):c.9730del (p.Glu3244fs)
|
rs1223462735
|
|
|
NM_001369.3(DNAH5):c.9739A>G (p.Met3247Val)
|
rs780887847
|
|
|
NM_001369.3(DNAH5):c.975+10C>T
|
rs2547143800
|
|
|
NM_001369.3(DNAH5):c.975+15C>T
|
|
|
|
NM_001369.3(DNAH5):c.975+16A>C
|
rs772905196
|
|
|
NM_001369.3(DNAH5):c.975+16A>G
|
rs772905196
|
|
|
NM_001369.3(DNAH5):c.975+7A>C
|
rs1291374135
|
|
|
NM_001369.3(DNAH5):c.975+8G>A
|
rs1229365810
|
|
|
NM_001369.3(DNAH5):c.975+8G>C
|
rs1229365810
|
|
|
NM_001369.3(DNAH5):c.9750G>A (p.Gln3250=)
|
rs766159473
|
|
|
NM_001369.3(DNAH5):c.9751G>C (p.Ala3251Pro)
|
rs139293893
|
|
|
NM_001369.3(DNAH5):c.9751G>T (p.Ala3251Ser)
|
rs139293893
|
|
|
NM_001369.3(DNAH5):c.9759A>G (p.Glu3253=)
|
rs2546656574
|
|
|
NM_001369.3(DNAH5):c.976-11A>C
|
rs767964669
|
|
|
NM_001369.3(DNAH5):c.976-13C>T
|
rs1193238527
|
|
|
NM_001369.3(DNAH5):c.976-16del
|
rs1372093528
|
|
|
NM_001369.3(DNAH5):c.976-17T>C
|
|
|
|
NM_001369.3(DNAH5):c.976-4T>C
|
rs375382496
|
|
|
NM_001369.3(DNAH5):c.976-7T>C
|
rs2547138179
|
|
|
NM_001369.3(DNAH5):c.9764T>G (p.Val3255Gly)
|
rs2126776737
|
|
|
NM_001369.3(DNAH5):c.9765C>A (p.Val3255=)
|
rs1752924645
|
|
|
NM_001369.3(DNAH5):c.9772G>C (p.Glu3258Gln)
|
rs769058578
|
|
|
NM_001369.3(DNAH5):c.9774G>A (p.Glu3258=)
|
rs2126776667
|
|
|
NM_001369.3(DNAH5):c.9782del (p.Lys3261fs)
|
rs2546656413
|
|
|
NM_001369.3(DNAH5):c.9786G>A (p.Val3262=)
|
rs2126776574
|
|
|
NM_001369.3(DNAH5):c.9792C>T (p.Asp3264=)
|
rs1447889163
|
|
|
NM_001369.3(DNAH5):c.9799C>T (p.Gln3267Ter)
|
rs923842695
|
|
|
NM_001369.3(DNAH5):c.9805del (p.Ile3269fs)
|
rs2546656292
|
|
|
NM_001369.3(DNAH5):c.980G>A (p.Trp327Ter)
|
rs1776744623
|
|
|
NM_001369.3(DNAH5):c.9810G>A (p.Val3270=)
|
rs779435246
|
|
|
NM_001369.3(DNAH5):c.9831A>G (p.Lys3277=)
|
rs2546656213
|
|
|
NM_001369.3(DNAH5):c.9840T>C (p.Ala3280=)
|
rs1256566430
|
|
|
NM_001369.3(DNAH5):c.9840T>G (p.Ala3280=)
|
rs1256566430
|
|
|
NM_001369.3(DNAH5):c.9849A>G (p.Lys3283=)
|
rs2546656131
|
|
|
NM_001369.3(DNAH5):c.9854A>G (p.Glu3285Gly)
|
|
|
|
NM_001369.3(DNAH5):c.985G>T (p.Glu329Ter)
|
rs2151986932
|
|
|
NM_001369.3(DNAH5):c.9864A>G (p.Lys3288=)
|
rs765335691
|
|
|
NM_001369.3(DNAH5):c.9869C>G (p.Ala3290Gly)
|
|
|
|
NM_001369.3(DNAH5):c.9871T>C (p.Leu3291=)
|
rs1379421295
|
|
|
NM_001369.3(DNAH5):c.9877G>T (p.Glu3293Ter)
|
rs2126775977
|
|
|
NM_001369.3(DNAH5):c.9879G>A (p.Glu3293=)
|
rs764348016
|
|
|
NM_001369.3(DNAH5):c.9882A>C (p.Ala3294=)
|
rs1310264829
|
|
|
NM_001369.3(DNAH5):c.9883G>T (p.Glu3295Ter)
|
|
|
|
NM_001369.3(DNAH5):c.9886G>A (p.Ala3296Thr)
|
|
|
|
NM_001369.3(DNAH5):c.9890C>T (p.Ala3297Val)
|
rs2546655888
|
|
|
NM_001369.3(DNAH5):c.9896A>G (p.Gln3299Arg)
|
rs727503902
|
|
|
NM_001369.3(DNAH5):c.9897+13G>A
|
rs1204485563
|
|
|
NM_001369.3(DNAH5):c.9897+13G>C
|
rs1204485563
|
|
|
NM_001369.3(DNAH5):c.9897+1G>A
|
rs914675446
|
|
|
NM_001369.3(DNAH5):c.9897+1G>T
|
rs914675446
|
|
|
NM_001369.3(DNAH5):c.9897+1del
|
rs1386707595
|
|
|
NM_001369.3(DNAH5):c.9897+7C>A
|
rs2126775713
|
|
|
NM_001369.3(DNAH5):c.9897+8T>G
|
rs2546655807
|
|
|
NM_001369.3(DNAH5):c.9897+9A>C
|
rs774932799
|
|
|
NM_001369.3(DNAH5):c.9897+9_9897+10del
|
rs758724681
|
|
|
NM_001369.3(DNAH5):c.9898-12T>C
|
rs2546648993
|
|
|
NM_001369.3(DNAH5):c.9898-4C>T
|
rs763470877
|
|
|
NM_001369.3(DNAH5):c.9898-6C>T
|
rs1554039568
|
|
|
NM_001369.3(DNAH5):c.9898-7C>T
|
rs751201560
|
|
|
NM_001369.3(DNAH5):c.9900C>T (p.Thr3300=)
|
rs2126763018
|
|
|
NM_001369.3(DNAH5):c.9907C>A (p.Pro3303Thr)
|
rs770166503
|
|
|
NM_001369.3(DNAH5):c.9909T>G (p.Pro3303=)
|
rs2126762969
|
|
|
NM_001369.3(DNAH5):c.9912G>A (p.Ser3304=)
|
rs188218914
|
|
|
NM_001369.3(DNAH5):c.9912G>C (p.Ser3304=)
|
rs188218914
|
|
|
NM_001369.3(DNAH5):c.9912G>T (p.Ser3304=)
|
rs188218914
|
|
|
NM_001369.3(DNAH5):c.9915C>T (p.Asp3305=)
|
rs2126762928
|
|
|
NM_001369.3(DNAH5):c.9922A>C (p.Thr3308Pro)
|
|
|
|
NM_001369.3(DNAH5):c.9933G>A (p.Thr3311=)
|
rs376212341
|
|
|
NM_001369.3(DNAH5):c.9933G>T (p.Thr3311=)
|
rs376212341
|
|
|
NM_001369.3(DNAH5):c.9942C>T (p.Arg3314=)
|
rs781404108
|
|
|
NM_001369.3(DNAH5):c.9945C>G (p.Pro3315=)
|
rs1468197924
|
|
|
NM_001369.3(DNAH5):c.9948T>A (p.Pro3316=)
|
rs2546648635
|
|
|
NM_001369.3(DNAH5):c.9950A>G (p.His3317Arg)
|
rs755181591
|
|
|
NM_001369.3(DNAH5):c.9951C>T (p.His3317=)
|
rs2126762640
|
|
|
NM_001369.3(DNAH5):c.9957C>A (p.Ile3319=)
|
rs766420895
|
|
|
NM_001369.3(DNAH5):c.9963G>C (p.Arg3321=)
|
rs762184401
|
|
|
NM_001369.3(DNAH5):c.9964A>C (p.Ile3322Leu)
|
rs776865982
|
|
|
NM_001369.3(DNAH5):c.9966C>T (p.Ile3322=)
|
rs1752480559
|
|
|
NM_001369.3(DNAH5):c.9967A>G (p.Met3323Val)
|
rs1554039465
|
|
|
NM_001369.3(DNAH5):c.9975C>A (p.Cys3325Ter)
|
rs771715883
|
|
|
NM_001369.3(DNAH5):c.9976G>A (p.Val3326Ile)
|
rs149452082
|
|
|
NM_001369.3(DNAH5):c.9978A>G (p.Val3326=)
|
rs1328157249
|
|
|
NM_001369.3(DNAH5):c.997C>A (p.Arg333=)
|
rs771956532
|
|
|
NM_001369.3(DNAH5):c.997C>T (p.Arg333Ter)
|
rs771956532
|
|
|
NM_001369.3(DNAH5):c.9985C>T (p.Leu3329=)
|
rs1752477995
|
|
|
NM_001369.3(DNAH5):c.9986T>C (p.Leu3329Pro)
|
rs878854459
|
|
|
NM_001369.3(DNAH5):c.9987G>C (p.Leu3329=)
|
rs372955295
|
|
|
NM_001369.3(DNAH5):c.9990del (p.Gln3331fs)
|
rs2126762332
|
|
|
NM_001369.3(DNAH5):c.9990dup (p.Gln3331fs)
|
rs2126762332
|
|
|
NM_001369.3(DNAH5):c.9G>A (p.Arg3=)
|
rs2547214085
|
|
|
NM_001372.4(DNAH9):c.10124C>G (p.Thr3375Arg)
|
rs781274437
|
|
|
NM_001372.4(DNAH9):c.308del (p.Phe103fs)
|
rs769795916
|
|
|
NM_001394063.1(CFAP20DC):c.601C>T (p.Arg201Ter)
|
|
|
|
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.1119del (p.Ala374fs)
|
rs1244721341
|
|
|
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.401C>G (p.Ser134Ter)
|
rs934869420
|
|
|
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.2236C>G (p.Leu746Val)
|
rs1184006962
|
|
|
NM_003611.3(OFD1):c.2273C>G (p.Ser758Ter)
|
rs2047909739
|
|
|
NM_003611.3(OFD1):c.2332T>G (p.Ser778Ala)
|
rs1306533962
|
|
|
NM_003611.3(OFD1):c.2358_2372del (p.Val787_Pro791del)
|
rs2147052534
|
|
|
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.2615_2619del (p.Gln872fs)
|
rs1569162748
|
|
|
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.2725C>T (p.Arg909Ter)
|
rs1060500123
|
|
|
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.2868del (p.Pro957fs)
|
rs2147086315
|
|
|
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.-1_4del (p.Met1fs)
|
rs2491983430
|
|
|
NM_012144.4(DNAI1):c.1002C>A (p.Ser334=)
|
rs754233819
|
|
|
NM_012144.4(DNAI1):c.1003G>T (p.Val335Phe)
|
rs11793196
|
|
|
NM_012144.4(DNAI1):c.1005C>T (p.Val335=)
|
rs1425762150
|
|
|
NM_012144.4(DNAI1):c.1006A>T (p.Thr336Ser)
|
rs1319380844
|
|
|
NM_012144.4(DNAI1):c.1011C>T (p.Ala337=)
|
rs758595604
|
|
|
NM_012144.4(DNAI1):c.1019+10G>C
|
rs1554689742
|
|
|
NM_012144.4(DNAI1):c.1019+10G>T
|
rs1554689742
|
|
|
NM_012144.4(DNAI1):c.1019+11G>T
|
rs992279032
|
|
|
NM_012144.4(DNAI1):c.1019+20_1019+28del
|
rs747475785
|
|
|
NM_012144.4(DNAI1):c.1019+9A>C
|
rs1824817062
|
|
|
NM_012144.4(DNAI1):c.1019G>A (p.Trp340Ter)
|
rs2132072131
|
|
|
NM_012144.4(DNAI1):c.1020-10T>G
|
rs2132072437
|
|
|
NM_012144.4(DNAI1):c.1020-13T>C
|
|
|
|
NM_012144.4(DNAI1):c.1020-14A>G
|
rs777973486
|
|
|
NM_012144.4(DNAI1):c.1020-16A>T
|
rs904324428
|
|
|
NM_012144.4(DNAI1):c.1020-5del
|
rs745344346
|
|
|
NM_012144.4(DNAI1):c.1020-5dup
|
rs745344346
|
|
|
NM_012144.4(DNAI1):c.1020-9T>C
|
rs2492074810
|
|
|
NM_012144.4(DNAI1):c.1029G>A (p.Lys343=)
|
rs757413255
|
|
|
NM_012144.4(DNAI1):c.1046C>A (p.Ala349Glu)
|
rs745862355
|
|
|
NM_012144.4(DNAI1):c.1063+10C>T
|
rs2132072481
|
|
|
NM_012144.4(DNAI1):c.1063+16A>G
|
rs2132072492
|
|
|
NM_012144.4(DNAI1):c.1063+17T>C
|
rs2492075395
|
|
|
NM_012144.4(DNAI1):c.1063+19C>T
|
rs794727066
|
|
|
NM_012144.4(DNAI1):c.1063+1G>A
|
rs1268770869
|
|
|
NM_012144.4(DNAI1):c.1063+1G>T
|
rs1268770869
|
|
|
NM_012144.4(DNAI1):c.1063+2T>C
|
rs2492075310
|
|
|
NM_012144.4(DNAI1):c.1063+7G>T
|
|
|
|
NM_012144.4(DNAI1):c.1064-10C>G
|
rs1442041564
|
|
|
NM_012144.4(DNAI1):c.1064-11del
|
rs2492094364
|
|
|
NM_012144.4(DNAI1):c.1064-15A>T
|
rs2492094330
|
|
|
NM_012144.4(DNAI1):c.1064-19G>C
|
rs765763641
|
|
|
NM_012144.4(DNAI1):c.1064-4G>T
|
rs1254460885
|
|
|
NM_012144.4(DNAI1):c.1064-7T>C
|
rs886038584
|
|
|
NM_012144.4(DNAI1):c.1073_1076del (p.Met358fs)
|
rs762611736
|
|
|
NM_012144.4(DNAI1):c.107G>C (p.Gly36Ala)
|
|
|
|
NM_012144.4(DNAI1):c.1081A>G (p.Ser361Gly)
|
rs1265872038
|
|
|
NM_012144.4(DNAI1):c.1086G>A (p.Arg362=)
|
rs2492094626
|
|
|
NM_012144.4(DNAI1):c.1088G>A (p.Gly363Asp)
|
rs1470058689
|
|
|
NM_012144.4(DNAI1):c.1092dup (p.Leu365fs)
|
rs2492094676
|
|
|
NM_012144.4(DNAI1):c.1095G>A (p.Leu365=)
|
rs749181536
|
|
|
NM_012144.4(DNAI1):c.1095G>T (p.Leu365=)
|
rs749181536
|
|
|
NM_012144.4(DNAI1):c.1101C>G (p.Leu367=)
|
rs768631309
|
|
|
NM_012144.4(DNAI1):c.1110G>A (p.Leu370=)
|
rs2132076725
|
|
|
NM_012144.4(DNAI1):c.1113G>A (p.Lys371=)
|
rs2492094862
|
|
|
NM_012144.4(DNAI1):c.1122C>T (p.Ser374=)
|
rs2492094939
|
|
|
NM_012144.4(DNAI1):c.1127del (p.Pro376fs)
|
rs2132076740
|
|
|
NM_012144.4(DNAI1):c.1128T>C (p.Pro376=)
|
rs1824937169
|
|
|
NM_012144.4(DNAI1):c.1128T>G (p.Pro376=)
|
rs1824937169
|
|
|
NM_012144.4(DNAI1):c.112G>A (p.Gly38Ser)
|
rs2492025475
|
|
|
NM_012144.4(DNAI1):c.1131G>A (p.Glu377=)
|
rs936989573
|
|
|
NM_012144.4(DNAI1):c.1134C>G (p.Tyr378Ter)
|
rs2132076769
|
|
|
NM_012144.4(DNAI1):c.1134C>T (p.Tyr378=)
|
rs2132076769
|
|
|
NM_012144.4(DNAI1):c.1152_1161delinsA (p.Ser384_Met387delinsArg)
|
rs1824938179
|
|
|
NM_012144.4(DNAI1):c.1163G>A (p.Cys388Tyr)
|
rs767667443
|
|
|
NM_012144.4(DNAI1):c.1163G>T (p.Cys388Phe)
|
rs767667443
|
|
|
NM_012144.4(DNAI1):c.1170C>T (p.Asp390=)
|
rs2132076836
|
|
|
NM_012144.4(DNAI1):c.1179G>C (p.Val393=)
|
rs2492095477
|
|
|
NM_012144.4(DNAI1):c.1188C>T (p.Pro396=)
|
rs2132076864
|
|
|
NM_012144.4(DNAI1):c.1188del (p.Tyr397fs)
|
rs1060503515
|
|
|
NM_012144.4(DNAI1):c.1191C>T (p.Tyr397=)
|
rs1824939812
|
|
|
NM_012144.4(DNAI1):c.1191_1193del (p.Tyr397_Leu398delinsTer)
|
rs2132076876
|
|
|
NM_012144.4(DNAI1):c.1197G>A (p.Val399=)
|
rs2492095718
|
|
|
NM_012144.4(DNAI1):c.1202dup (p.Gly402fs)
|
rs2132076893
|
|
|
NM_012144.4(DNAI1):c.1204G>A (p.Gly402Ser)
|
rs746647838
|
|
|
NM_012144.4(DNAI1):c.1204G>T (p.Gly402Cys)
|
rs746647838
|
|
|
NM_012144.4(DNAI1):c.1205G>A (p.Gly402Asp)
|
rs138954776
|
|
|
NM_012144.4(DNAI1):c.1205G>T (p.Gly402Val)
|
rs138954776
|
|
|
NM_012144.4(DNAI1):c.1206C>A (p.Gly402=)
|
rs1824940432
|
|
|
NM_012144.4(DNAI1):c.120T>C (p.Asp40=)
|
rs2492025498
|
|
|
NM_012144.4(DNAI1):c.1229T>C (p.Ile410Thr)
|
rs2492095956
|
|
|
NM_012144.4(DNAI1):c.1239del (p.Lys414fs)
|
rs2492096070
|
|
|
NM_012144.4(DNAI1):c.123A>G (p.Glu41=)
|
rs750880377
|
|
|
NM_012144.4(DNAI1):c.1242G>A (p.Lys414=)
|
rs768199292
|
|
|
NM_012144.4(DNAI1):c.1253C>G (p.Ser418Cys)
|
rs766607013
|
|
|
NM_012144.4(DNAI1):c.1264T>C (p.Phe422Leu)
|
rs1256336794
|
|
|
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.1269C>T (p.Cys423=)
|
rs2132076997
|
|
|
NM_012144.4(DNAI1):c.1289_1310dup (p.Val438fs)
|
rs2492096457
|
|
|
NM_012144.4(DNAI1):c.1290G>A (p.Lys430=)
|
rs1047610175
|
|
|
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.1302T>C (p.Pro434=)
|
rs2492096605
|
|
|
NM_012144.4(DNAI1):c.1305G>A (p.Val435=)
|
rs2132077032
|
|
|
NM_012144.4(DNAI1):c.1307G>A (p.Trp436Ter)
|
rs769284314
|
|
|
NM_012144.4(DNAI1):c.1311+13G>A
|
rs367599213
|
|
|
NM_012144.4(DNAI1):c.1311+16G>A
|
rs138397479
|
|
|
NM_012144.4(DNAI1):c.1311+1G>C
|
rs2132077044
|
|
|
NM_012144.4(DNAI1):c.1311+20G>A
|
rs2492096805
|
|
|
NM_012144.4(DNAI1):c.1311+21_1311+35del
|
rs2492096773
|
|
|
NM_012144.4(DNAI1):c.1311+7A>G
|
rs2132077061
|
|
|
NM_012144.4(DNAI1):c.1311+9C>G
|
rs2132077070
|
|
|
NM_012144.4(DNAI1):c.1312-13del
|
rs2492114644
|
|
|
NM_012144.4(DNAI1):c.1312-7G>A
|
rs2492114702
|
|
|
NM_012144.4(DNAI1):c.1312-8T>C
|
|
|
|
NM_012144.4(DNAI1):c.1319G>A (p.Trp440Ter)
|
rs939569468
|
|
|
NM_012144.4(DNAI1):c.1328A>G (p.Asp443Gly)
|
rs2492114874
|
|
|
NM_012144.4(DNAI1):c.132A>G (p.Gln44=)
|
rs2132057349
|
|
|
NM_012144.4(DNAI1):c.1338C>T (p.Asp446=)
|
|
|
|
NM_012144.4(DNAI1):c.133T>G (p.Ser45Ala)
|
rs2492025513
|
|
|
NM_012144.4(DNAI1):c.1348_1352del (p.Asn450fs)
|
rs867262419
|
|
|
NM_012144.4(DNAI1):c.1351_1352inv (p.Phe451Asn)
|
|
|
|
NM_012144.4(DNAI1):c.1356C>G (p.Phe452Leu)
|
rs2492115117
|
|
|
NM_012144.4(DNAI1):c.1358_1359del (p.Ser453fs)
|
rs2132081341
|
|
|
NM_012144.4(DNAI1):c.1360G>C (p.Val454Leu)
|
|
|
|
NM_012144.4(DNAI1):c.1366T>C (p.Ser456Pro)
|
rs2492115178
|
|
|
NM_012144.4(DNAI1):c.1374C>A (p.Gly458=)
|
rs772610592
|
|
|
NM_012144.4(DNAI1):c.1377G>A (p.Arg459=)
|
rs2492115377
|
|
|
NM_012144.4(DNAI1):c.1383G>A (p.Val461=)
|
rs2132081385
|
|
|
NM_012144.4(DNAI1):c.1383_1384del (p.Ser462fs)
|
rs1370523337
|
|
|
NM_012144.4(DNAI1):c.1390A>G (p.Thr464Ala)
|
rs1825078145
|
|
|
NM_012144.4(DNAI1):c.1397T>G (p.Val466Gly)
|
|
|
|
NM_012144.4(DNAI1):c.139G>A (p.Ala47Thr)
|
rs185480184
|
|
|
NM_012144.4(DNAI1):c.1401+18A>G
|
rs761612387
|
|
|
NM_012144.4(DNAI1):c.1401+20G>C
|
|
|
|
NM_012144.4(DNAI1):c.1401+3_1401+10del
|
rs765551840
|
|
|
NM_012144.4(DNAI1):c.1401+6dup
|
rs2132081431
|
|
|
NM_012144.4(DNAI1):c.1402-14G>C
|
rs939621836
|
|
|
NM_012144.4(DNAI1):c.1402-19C>T
|
rs1361020546
|
|
|
NM_012144.4(DNAI1):c.1402-4A>G
|
rs761735222
|
|
|
NM_012144.4(DNAI1):c.1407G>A (p.Lys469=)
|
rs189377425
|
|
|
NM_012144.4(DNAI1):c.1437G>A (p.Lys479=)
|
rs2492116516
|
|
|
NM_012144.4(DNAI1):c.1449C>T (p.Ser483=)
|
rs1461407696
|
|
|
NM_012144.4(DNAI1):c.144A>G (p.Thr48=)
|
rs981642741
|
|
|
NM_012144.4(DNAI1):c.1452C>T (p.Thr484=)
|
rs2492116596
|
|
|
NM_012144.4(DNAI1):c.1455G>C (p.Thr485=)
|
rs200766993
|
|
|
NM_012144.4(DNAI1):c.1463del (p.Pro488fs)
|
rs2132081705
|
|
|
NM_012144.4(DNAI1):c.146_149del (p.Val49fs)
|
rs2132057373
|
|
|
NM_012144.4(DNAI1):c.1476G>A (p.Gln492=)
|
rs780339388
|
|
|
NM_012144.4(DNAI1):c.1482C>T (p.His494=)
|
rs774384249
|
|
|
NM_012144.4(DNAI1):c.1485A>G (p.Pro495=)
|
rs2492116813
|
|
|
NM_012144.4(DNAI1):c.1489+10C>A
|
rs772984974
|
|
|
NM_012144.4(DNAI1):c.1489+10C>T
|
rs772984974
|
|
|
NM_012144.4(DNAI1):c.1489+2T>G
|
rs1825084931
|
|
|
NM_012144.4(DNAI1):c.1489G>A (p.Gly497Ser)
|
rs1212462636
|
|
|
NM_012144.4(DNAI1):c.1490-17C>T
|
rs1825101665
|
|
|
NM_012144.4(DNAI1):c.1490-5C>G
|
rs748260311
|
|
|
NM_012144.4(DNAI1):c.1490-5C>T
|
rs748260311
|
|
|
NM_012144.4(DNAI1):c.1490G>T (p.Gly497Val)
|
rs376252276
|
|
|
NM_012144.4(DNAI1):c.1494T>C (p.Cys498=)
|
rs2132082502
|
|
|
NM_012144.4(DNAI1):c.1498_1502del (p.Thr500fs)
|
rs2492120752
|
|
|
NM_012144.4(DNAI1):c.1499dup (p.Ala501fs)
|
rs1825102855
|
|
|
NM_012144.4(DNAI1):c.1512C>T (p.Phe504=)
|
rs1168965747
|
|
|
NM_012144.4(DNAI1):c.1514A>G (p.His505Arg)
|
rs2492120817
|
|
|
NM_012144.4(DNAI1):c.1515C>T (p.His505=)
|
rs2132082536
|
|
|
NM_012144.4(DNAI1):c.152C>A (p.Pro51His)
|
|
|
|
NM_012144.4(DNAI1):c.1530C>T (p.Tyr510=)
|
rs1411748138
|
|
|
NM_012144.4(DNAI1):c.1538T>C (p.Leu513Pro)
|
rs1554691352
|
|
|
NM_012144.4(DNAI1):c.153C>A (p.Pro51=)
|
rs1587067441
|
|
|
NM_012144.4(DNAI1):c.1545C>T (p.Gly515=)
|
|
|
|
NM_012144.4(DNAI1):c.1558A>G (p.Lys520Glu)
|
rs766816816
|
|
|
NM_012144.4(DNAI1):c.1563C>T (p.Ile521=)
|
rs2132082600
|
|
|
NM_012144.4(DNAI1):c.1566C>T (p.Tyr522=)
|
rs1825105739
|
|
|
NM_012144.4(DNAI1):c.1569+11C>T
|
rs755297454
|
|
|
NM_012144.4(DNAI1):c.1569+12C>G
|
rs200801942
|
|
|
NM_012144.4(DNAI1):c.1569+12dup
|
rs1278322224
|
|
|
NM_012144.4(DNAI1):c.1569+17C>T
|
rs777683308
|
|
|
NM_012144.4(DNAI1):c.1569+1G>A
|
rs1465404366
|
|
|
NM_012144.4(DNAI1):c.1569+7C>T
|
rs2492121352
|
|
|
NM_012144.4(DNAI1):c.156del (p.Asp53fs)
|
rs1060503495
|
|
|
NM_012144.4(DNAI1):c.1570-12C>T
|
|
|
|
NM_012144.4(DNAI1):c.1570-14C>A
|
rs2492125985
|
|
|
NM_012144.4(DNAI1):c.1570-18C>G
|
rs139211230
|
|
|
NM_012144.4(DNAI1):c.1570-1G>T
|
rs1587091911
|
|
|
NM_012144.4(DNAI1):c.1570-4C>T
|
rs1435209761
|
|
|
NM_012144.4(DNAI1):c.1570-6G>C
|
rs370622070
|
|
|
NM_012144.4(DNAI1):c.1570-8C>T
|
rs2132083713
|
|
|
NM_012144.4(DNAI1):c.1591C>T (p.Gln531Ter)
|
rs2492126192
|
|
|
NM_012144.4(DNAI1):c.1592A>G (p.Gln531Arg)
|
|
|
|
NM_012144.4(DNAI1):c.1599C>A (p.Leu533=)
|
rs150785761
|
|
|
NM_012144.4(DNAI1):c.15T>C (p.Ser5=)
|
rs751365548
|
|
|
NM_012144.4(DNAI1):c.1612G>A (p.Ala538Thr)
|
rs368248592
|
|
|
NM_012144.4(DNAI1):c.1612G>T (p.Ala538Ser)
|
rs368248592
|
|
|
NM_012144.4(DNAI1):c.1613C>T (p.Ala538Val)
|
rs2132083804
|
|
|
NM_012144.4(DNAI1):c.1614C>T (p.Ala538=)
|
rs1201989652
|
|
|
NM_012144.4(DNAI1):c.1623G>A (p.Met541Ile)
|
rs775854024
|
|
|
NM_012144.4(DNAI1):c.1635T>G (p.Thr545=)
|
rs547737876
|
|
|
NM_012144.4(DNAI1):c.1637T>C (p.Val546Ala)
|
rs1314566572
|
|
|
NM_012144.4(DNAI1):c.1638G>T (p.Val546=)
|
rs1825132822
|
|
|
NM_012144.4(DNAI1):c.1638_1639del (p.Ser547fs)
|
rs748929117
|
|
|
NM_012144.4(DNAI1):c.163del (p.Leu55fs)
|
rs1196979432
|
|
|
NM_012144.4(DNAI1):c.1644del (p.Ser547_Trp548insTer)
|
rs1345403701
|
|
|
NM_012144.4(DNAI1):c.1647C>T (p.Asn549=)
|
rs1825133148
|
|
|
NM_012144.4(DNAI1):c.1653C>G (p.Tyr551Ter)
|
rs1294734737
|
|
|
NM_012144.4(DNAI1):c.165G>A (p.Leu55=)
|
rs2132057398
|
|
|
NM_012144.4(DNAI1):c.1676G>A (p.Cys559Tyr)
|
rs1335386227
|
|
|
NM_012144.4(DNAI1):c.1677C>A (p.Cys559Ter)
|
rs1379578270
|
|
|
NM_012144.4(DNAI1):c.1683C>G (p.Ser561=)
|
rs749068442
|
|
|
NM_012144.4(DNAI1):c.1683C>T (p.Ser561=)
|
rs749068442
|
|
|
NM_012144.4(DNAI1):c.1692A>C (p.Thr564=)
|
rs778444720
|
|
|
NM_012144.4(DNAI1):c.1698G>A (p.Lys566=)
|
rs771520962
|
|
|
NM_012144.4(DNAI1):c.1700T>C (p.Ile567Thr)
|
rs1554691495
|
|
|
NM_012144.4(DNAI1):c.1718+12G>A
|
rs2492126941
|
|
|
NM_012144.4(DNAI1):c.1718+15C>T
|
rs934934914
|
|
|
NM_012144.4(DNAI1):c.1718+19G>T
|
rs1431938985
|
|
|
NM_012144.4(DNAI1):c.1718+1G>A
|
rs2132084012
|
|
|
NM_012144.4(DNAI1):c.1718+2T>G
|
rs2492126891
|
|
|
NM_012144.4(DNAI1):c.1718+9C>A
|
rs2492126913
|
|
|
NM_012144.4(DNAI1):c.1719-10A>C
|
rs2492127287
|
|
|
NM_012144.4(DNAI1):c.1719-11_1719-10insGGCTCC
|
|
|
|
NM_012144.4(DNAI1):c.1719-1G>A
|
|
|
|
NM_012144.4(DNAI1):c.1719-2A>G
|
rs1372668734
|
|
|
NM_012144.4(DNAI1):c.1719-4G>A
|
rs1419477770
|
|
|
NM_012144.4(DNAI1):c.1720_1725delinsTGATAGGAATAAGGGCTAAATGCAGGAAAGGGGATGGAGAATCTAGAGGGTGACTTTAGCCCAGCTCAGCATCTTTTCCTCCGGGCCCTCCCTCCCTTCCTGGGAGTTGAGGTAGAAGGGGGGATTCGGAGGAGTTAGAATATTTTGGGAAAACTTCCTGGAGGAGATTTGTACTTGAGCTGAGCTTGGAAGGCCAGAATTATCTCTGAATACTGGGTACATCCCAGCCAGCAGGATGGAACCTCACGGTCAGTTTCTACACA (p.Thr574_Pro575delinsTer)
|
rs2492127338
|
|
|
NM_012144.4(DNAI1):c.1724C>T (p.Pro575Leu)
|
rs921726236
|
|
|
NM_012144.4(DNAI1):c.1737T>C (p.Tyr579=)
|
rs2492127450
|
|
|
NM_012144.4(DNAI1):c.1746C>T (p.Asn582=)
|
rs753758062
|
|
|
NM_012144.4(DNAI1):c.174C>A (p.Thr58=)
|
rs752803659
|
|
|
NM_012144.4(DNAI1):c.1753G>A (p.Val585Met)
|
|
|
|
NM_012144.4(DNAI1):c.1758T>A (p.Gly586=)
|
rs758117826
|
|
|
NM_012144.4(DNAI1):c.1758T>C (p.Gly586=)
|
rs758117826
|
|
|
NM_012144.4(DNAI1):c.1761T>C (p.Asp587=)
|
rs1448928707
|
|
|
NM_012144.4(DNAI1):c.1776A>T (p.Pro592=)
|
rs1008510837
|
|
|
NM_012144.4(DNAI1):c.1783T>C (p.Ser595Pro)
|
rs2492127668
|
|
|
NM_012144.4(DNAI1):c.1787C>T (p.Thr596Ile)
|
rs2132084252
|
|
|
NM_012144.4(DNAI1):c.1788T>C (p.Thr596=)
|
rs749811393
|
|
|
NM_012144.4(DNAI1):c.178dup (p.Ala60fs)
|
rs2132057423
|
|
|
NM_012144.4(DNAI1):c.180+19G>A
|
rs745598549
|
|
|
NM_012144.4(DNAI1):c.180+1G>A
|
rs2132057443
|
|
|
NM_012144.4(DNAI1):c.180+1G>T
|
rs2132057443
|
|
|
NM_012144.4(DNAI1):c.180+2T>G
|
rs1587067513
|
|
|
NM_012144.4(DNAI1):c.1800A>G (p.Ala600=)
|
rs1825141265
|
|
|
NM_012144.4(DNAI1):c.1809A>T (p.Thr603=)
|
rs2132084284
|
|
|
NM_012144.4(DNAI1):c.180G>T (p.Ala60=)
|
rs201120508
|
|
|
NM_012144.4(DNAI1):c.181-15A>G
|
rs1221541472
|
|
|
NM_012144.4(DNAI1):c.181-2A>T
|
rs2492026077
|
|
|
NM_012144.4(DNAI1):c.181-5C>T
|
rs2132057646
|
|
|
NM_012144.4(DNAI1):c.181-7C>A
|
rs2492026066
|
|
|
NM_012144.4(DNAI1):c.1818+15C>G
|
rs1825142151
|
|
|
NM_012144.4(DNAI1):c.1818+15C>T
|
|
|
|
NM_012144.4(DNAI1):c.1818+17T>C
|
rs2492127864
|
|
|
NM_012144.4(DNAI1):c.1818+2T>A
|
rs2492127795
|
|
|
NM_012144.4(DNAI1):c.1818+9C>G
|
rs747231360
|
|
|
NM_012144.4(DNAI1):c.1819-10C>T
|
rs1347533189
|
|
|
NM_012144.4(DNAI1):c.1819-14C>G
|
rs779487812
|
|
|
NM_012144.4(DNAI1):c.1819-14C>T
|
rs779487812
|
|
|
NM_012144.4(DNAI1):c.1819-2A>G
|
rs2132086408
|
|
|
NM_012144.4(DNAI1):c.1819-4A>C
|
rs2132086400
|
|
|
NM_012144.4(DNAI1):c.1819-9T>G
|
rs1587094351
|
|
|
NM_012144.4(DNAI1):c.1821C>T (p.Ala607=)
|
rs2132086418
|
|
|
NM_012144.4(DNAI1):c.1822C>T (p.His608Tyr)
|
rs148762102
|
|
|
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.1866_1873del (p.Gln623fs)
|
rs1825188115
|
|
|
NM_012144.4(DNAI1):c.1871C>T (p.Pro624Leu)
|
|
|
|
NM_012144.4(DNAI1):c.1871del (p.Pro624fs)
|
rs1168493593
|
|
|
NM_012144.4(DNAI1):c.1875G>T (p.Val625=)
|
rs775469694
|
|
|
NM_012144.4(DNAI1):c.1899C>T (p.Thr633=)
|
rs1424652340
|
|
|
NM_012144.4(DNAI1):c.189G>A (p.Lys63=)
|
rs1011660587
|
|
|
NM_012144.4(DNAI1):c.18G>A (p.Ala6=)
|
rs1823881942
|
|
|
NM_012144.4(DNAI1):c.1900dup (p.His634fs)
|
rs1825189052
|
|
|
NM_012144.4(DNAI1):c.1913A>C (p.Asn638Thr)
|
rs201773877
|
|
|
NM_012144.4(DNAI1):c.1920C>A (p.Ile640=)
|
rs778382564
|
|
|
NM_012144.4(DNAI1):c.1920C>T (p.Ile640=)
|
|
|
|
NM_012144.4(DNAI1):c.1926C>A (p.Pro642=)
|
rs2132086584
|
|
|
NM_012144.4(DNAI1):c.192G>A (p.Glu64=)
|
rs2132057666
|
|
|
NM_012144.4(DNAI1):c.1930A>G (p.Ile644Val)
|
|
|
|
NM_012144.4(DNAI1):c.1935T>C (p.Ile645=)
|
rs1393988058
|
|
|
NM_012144.4(DNAI1):c.1935T>G (p.Ile645Met)
|
rs1393988058
|
|
|
NM_012144.4(DNAI1):c.193G>T (p.Glu65Ter)
|
rs1023413642
|
|
|
NM_012144.4(DNAI1):c.1941_1942insCA (p.Asp648fs)
|
rs2492136416
|
|
|
NM_012144.4(DNAI1):c.194_196dup (p.Phe66Ter)
|
rs1824451856
|
|
|
NM_012144.4(DNAI1):c.195G>A (p.Glu65=)
|
rs773731636
|
|
|
NM_012144.4(DNAI1):c.1962C>A (p.Ile654=)
|
rs1825191562
|
|
|
NM_012144.4(DNAI1):c.1962C>T (p.Ile654=)
|
rs1825191562
|
|
|
NM_012144.4(DNAI1):c.1972C>T (p.Leu658Phe)
|
|
|
|
NM_012144.4(DNAI1):c.1984T>C (p.Leu662=)
|
rs2132086682
|
|
|
NM_012144.4(DNAI1):c.1985del (p.Leu662fs)
|
|
|
|
NM_012144.4(DNAI1):c.1987C>G (p.Arg663Gly)
|
rs564706097
|
|
|
NM_012144.4(DNAI1):c.1998A>G (p.Pro666=)
|
rs919734920
|
|
|
NM_012144.4(DNAI1):c.1A>G (p.Met1Val)
|
rs1823881286
|
|
|
NM_012144.4(DNAI1):c.2000_2001insTT (p.Lys667fs)
|
rs2492136755
|
|
|
NM_012144.4(DNAI1):c.2001+10C>G
|
rs1237431260
|
|
|
NM_012144.4(DNAI1):c.2001+10C>T
|
rs1237431260
|
|
|
NM_012144.4(DNAI1):c.2001+14G>A
|
rs1564044545
|
|
|
NM_012144.4(DNAI1):c.2001+1G>A
|
rs397515563
|
|
|
NM_012144.4(DNAI1):c.2001+1G>T
|
rs397515563
|
|
|
NM_012144.4(DNAI1):c.2001+7G>A
|
rs1437773528
|
|
|
NM_012144.4(DNAI1):c.2001+7G>C
|
rs1437773528
|
|
|
NM_012144.4(DNAI1):c.2001+9T>C
|
rs2492136778
|
|
|
NM_012144.4(DNAI1):c.2002-10C>T
|
rs1453560428
|
|
|
NM_012144.4(DNAI1):c.2002-18T>C
|
rs2492146567
|
|
|
NM_012144.4(DNAI1):c.2002-4C>T
|
rs1377600339
|
|
|
NM_012144.4(DNAI1):c.2002-5C>T
|
rs1587096958
|
|
|
NM_012144.4(DNAI1):c.2002-6C>T
|
rs1174622504
|
|
|
NM_012144.4(DNAI1):c.2007G>A (p.Lys669=)
|
rs1825263472
|
|
|
NM_012144.4(DNAI1):c.2013G>A (p.Gly671=)
|
rs1825263545
|
|
|
NM_012144.4(DNAI1):c.2022G>A (p.Val674=)
|
rs933564569
|
|
|
NM_012144.4(DNAI1):c.2028G>A (p.Lys676=)
|
rs1377892484
|
|
|
NM_012144.4(DNAI1):c.202C>A (p.Arg68=)
|
rs759540568
|
|
|
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.2046T>A (p.Ile682=)
|
rs2132089778
|
|
|
NM_012144.4(DNAI1):c.2048C>A (p.Ala683Glu)
|
rs535760702
|
|
|
NM_012144.4(DNAI1):c.2049G>C (p.Ala683=)
|
rs555612830
|
|
|
NM_012144.4(DNAI1):c.204G>A (p.Arg68=)
|
rs1301833925
|
|
|
NM_012144.4(DNAI1):c.2067G>A (p.Leu689=)
|
rs372932017
|
|
|
NM_012144.4(DNAI1):c.2076G>C (p.Val692=)
|
rs1825266173
|
|
|
NM_012144.4(DNAI1):c.207T>A (p.Ile69=)
|
rs2132057695
|
|
|
NM_012144.4(DNAI1):c.228C>A (p.His76Gln)
|
rs760014707
|
|
|
NM_012144.4(DNAI1):c.228C>G (p.His76Gln)
|
|
|
|
NM_012144.4(DNAI1):c.22G>C (p.Ala8Pro)
|
rs11547035
|
|
|
NM_012144.4(DNAI1):c.22G>T (p.Ala8Ser)
|
rs11547035
|
|
|
NM_012144.4(DNAI1):c.244G>C (p.Val82Leu)
|
rs1564031598
|
|
|
NM_012144.4(DNAI1):c.24T>C (p.Ala8=)
|
|
|
|
NM_012144.4(DNAI1):c.261+10C>T
|
rs1824453816
|
|
|
NM_012144.4(DNAI1):c.261+13C>T
|
rs1211271935
|
|
|
NM_012144.4(DNAI1):c.261+15C>T
|
rs2492026356
|
|
|
NM_012144.4(DNAI1):c.261+19G>C
|
rs961568579
|
|
|
NM_012144.4(DNAI1):c.261+8A>G
|
rs757264175
|
|
|
NM_012144.4(DNAI1):c.262-12del
|
rs572785591
|
|
|
NM_012144.4(DNAI1):c.262-13C>T
|
rs2492032013
|
|
|
NM_012144.4(DNAI1):c.262-2A>G
|
rs1824533495
|
|
|
NM_012144.4(DNAI1):c.262-7T>G
|
rs2132060966
|
|
|
NM_012144.4(DNAI1):c.262-8C>T
|
rs1824533419
|
|
|
NM_012144.4(DNAI1):c.264del (p.Gly89fs)
|
rs2132060982
|
|
|
NM_012144.4(DNAI1):c.291G>T (p.Val97=)
|
rs1824534447
|
|
|
NM_012144.4(DNAI1):c.300G>C (p.Leu100=)
|
rs2492032348
|
|
|
NM_012144.4(DNAI1):c.302C>T (p.Ala101Val)
|
rs1824534743
|
|
|
NM_012144.4(DNAI1):c.304G>A (p.Val102Ile)
|
rs1824534808
|
|
|
NM_012144.4(DNAI1):c.309C>T (p.His103=)
|
rs1055150779
|
|
|
NM_012144.4(DNAI1):c.310T>C (p.Tyr104His)
|
|
|
|
NM_012144.4(DNAI1):c.315C>G (p.Thr105=)
|
rs2492032380
|
|
|
NM_012144.4(DNAI1):c.315C>T (p.Thr105=)
|
rs2492032380
|
|
|
NM_012144.4(DNAI1):c.325A>G (p.Asn109Asp)
|
rs1824535486
|
|
|
NM_012144.4(DNAI1):c.327C>T (p.Asn109=)
|
rs1691131982
|
|
|
NM_012144.4(DNAI1):c.333C>T (p.Ile111=)
|
rs1318069994
|
|
|
NM_012144.4(DNAI1):c.336C>T (p.Pro112=)
|
rs2132061103
|
|
|
NM_012144.4(DNAI1):c.336del (p.Asp114fs)
|
rs876657683
|
|
|
NM_012144.4(DNAI1):c.342del (p.Ser115fs)
|
rs2492032478
|
|
|
NM_012144.4(DNAI1):c.353G>T (p.Gly118Val)
|
rs2492032490
|
|
|
NM_012144.4(DNAI1):c.366T>A (p.His122Gln)
|
rs1060503514
|
|
|
NM_012144.4(DNAI1):c.366T>C (p.His122=)
|
rs1060503514
|
|
|
NM_012144.4(DNAI1):c.380T>A (p.Leu127Ter)
|
rs2492032587
|
|
|
NM_012144.4(DNAI1):c.384G>A (p.Val128=)
|
rs2132061208
|
|
|
NM_012144.4(DNAI1):c.388+10T>C
|
rs1824538038
|
|
|
NM_012144.4(DNAI1):c.389-11A>G
|
rs2492033353
|
|
|
NM_012144.4(DNAI1):c.389-19T>C
|
rs2492033340
|
|
|
NM_012144.4(DNAI1):c.389-4C>G
|
rs767845991
|
|
|
NM_012144.4(DNAI1):c.389-5C>A
|
rs1587070803
|
|
|
NM_012144.4(DNAI1):c.389-8C>A
|
rs1306532989
|
|
|
NM_012144.4(DNAI1):c.389-9C>T
|
rs2132061708
|
|
|
NM_012144.4(DNAI1):c.397G>T (p.Glu133Ter)
|
rs2492033381
|
|
|
NM_012144.4(DNAI1):c.399G>A (p.Glu133=)
|
rs756828891
|
|
|
NM_012144.4(DNAI1):c.402T>A (p.Ser134=)
|
rs2492033390
|
|
|
NM_012144.4(DNAI1):c.402_403insAT (p.Val135fs)
|
rs2492033394
|
|
|
NM_012144.4(DNAI1):c.403G>A (p.Val135Ile)
|
rs754452989
|
|
|
NM_012144.4(DNAI1):c.409G>A (p.Val137Met)
|
rs1824554174
|
|
|
NM_012144.4(DNAI1):c.423A>G (p.Thr141=)
|
rs2132061760
|
|
|
NM_012144.4(DNAI1):c.426A>G (p.Gly142=)
|
rs2492033439
|
|
|
NM_012144.4(DNAI1):c.43A>T (p.Lys15Ter)
|
rs2491983663
|
|
|
NM_012144.4(DNAI1):c.441C>T (p.Asp147=)
|
rs374753293
|
|
|
NM_012144.4(DNAI1):c.447G>A (p.Glu149=)
|
rs1371790403
|
|
|
NM_012144.4(DNAI1):c.453G>A (p.Lys151=)
|
rs1365872956
|
|
|
NM_012144.4(DNAI1):c.458T>A (p.Leu153Ter)
|
rs2132061817
|
|
|
NM_012144.4(DNAI1):c.470C>T (p.Pro157Leu)
|
rs1426141728
|
|
|
NM_012144.4(DNAI1):c.474G>A (p.Gly158=)
|
rs1192454555
|
|
|
NM_012144.4(DNAI1):c.48+10G>A
|
rs2132034542
|
|
|
NM_012144.4(DNAI1):c.48+10G>T
|
rs2132034542
|
|
|
NM_012144.4(DNAI1):c.48+13C>T
|
rs769873119
|
|
|
NM_012144.4(DNAI1):c.48+14A>G
|
rs2491983809
|
|
|
NM_012144.4(DNAI1):c.48+16C>T
|
rs775621604
|
|
|
NM_012144.4(DNAI1):c.48+19C>T
|
rs1263531592
|
|
|
NM_012144.4(DNAI1):c.48+1G>C
|
rs2132034522
|
|
|
NM_012144.4(DNAI1):c.48+1G>T
|
rs2132034522
|
|
|
NM_012144.4(DNAI1):c.48+6G>A
|
rs962155265
|
|
|
NM_012144.4(DNAI1):c.48+9C>T
|
rs746021545
|
|
|
NM_012144.4(DNAI1):c.484_485del (p.Asp162fs)
|
rs2492033549
|
|
|
NM_012144.4(DNAI1):c.485A>T (p.Asp162Val)
|
rs1554687745
|
|
|
NM_012144.4(DNAI1):c.487G>C (p.Val163Leu)
|
|
|
|
NM_012144.4(DNAI1):c.488_489dup (p.Pro164fs)
|
rs2492033561
|
|
|
NM_012144.4(DNAI1):c.489G>A (p.Val163=)
|
rs2492033570
|
|
|
NM_012144.4(DNAI1):c.48G>T (p.Gln16His)
|
rs2491983682
|
|
|
NM_012144.4(DNAI1):c.49-10C>T
|
rs774374707
|
|
|
NM_012144.4(DNAI1):c.49-16del
|
rs1824412769
|
|
|
NM_012144.4(DNAI1):c.49-1G>C
|
rs748042738
|
|
|
NM_012144.4(DNAI1):c.49-4T>G
|
rs2132055870
|
|
|
NM_012144.4(DNAI1):c.49-7C>T
|
rs2492022433
|
|
|
NM_012144.4(DNAI1):c.49A>G (p.Ser17Gly)
|
|
|
|
NM_012144.4(DNAI1):c.501+10A>G
|
rs765805502
|
|
|
NM_012144.4(DNAI1):c.501+14T>C
|
|
|
|
NM_012144.4(DNAI1):c.501+15C>A
|
rs369759767
|
|
|
NM_012144.4(DNAI1):c.501+16G>T
|
rs373496626
|
|
|
NM_012144.4(DNAI1):c.501+19_501+20del
|
rs2492033637
|
|
|
NM_012144.4(DNAI1):c.501+1G>A
|
rs1824556879
|
|
|
NM_012144.4(DNAI1):c.501+1G>T
|
rs1824556879
|
|
|
NM_012144.4(DNAI1):c.502-10T>C
|
rs2492034051
|
|
|
NM_012144.4(DNAI1):c.502-9T>C
|
|
|
|
NM_012144.4(DNAI1):c.516G>A (p.Val172=)
|
rs2132062151
|
|
|
NM_012144.4(DNAI1):c.51C>T (p.Ser17=)
|
rs2132055879
|
|
|
NM_012144.4(DNAI1):c.520GAA[2] (p.Glu176del)
|
rs878854967
|
|
|
NM_012144.4(DNAI1):c.528A>G (p.Glu176=)
|
rs2132062181
|
|
|
NM_012144.4(DNAI1):c.529T>C (p.Leu177=)
|
rs1225651030
|
|
|
NM_012144.4(DNAI1):c.530del (p.Glu176_Leu177insTer)
|
|
|
|
NM_012144.4(DNAI1):c.537T>C (p.Thr179=)
|
rs2132062198
|
|
|
NM_012144.4(DNAI1):c.538C>T (p.Pro180Ser)
|
|
|
|
NM_012144.4(DNAI1):c.543G>A (p.Lys181=)
|
rs2132062207
|
|
|
NM_012144.4(DNAI1):c.544C>T (p.Gln182Ter)
|
rs1824564325
|
|
|
NM_012144.4(DNAI1):c.549C>G (p.Pro183=)
|
rs771926865
|
|
|
NM_012144.4(DNAI1):c.549C>T (p.Pro183=)
|
rs771926865
|
|
|
NM_012144.4(DNAI1):c.552G>A (p.Lys184=)
|
rs2132062224
|
|
|
NM_012144.4(DNAI1):c.556dup (p.Arg186fs)
|
rs1824564676
|
|
|
NM_012144.4(DNAI1):c.557G>A (p.Arg186Lys)
|
rs1178602656
|
|
|
NM_012144.4(DNAI1):c.565_566del (p.Leu188_Thr189insTer)
|
rs1405276816
|
|
|
NM_012144.4(DNAI1):c.570C>T (p.Asn190=)
|
rs1431433681
|
|
|
NM_012144.4(DNAI1):c.579C>T (p.Asn193=)
|
rs1255625413
|
|
|
NM_012144.4(DNAI1):c.594C>G (p.Ala198=)
|
rs902299323
|
|
|
NM_012144.4(DNAI1):c.601A>T (p.Thr201Ser)
|
rs764611383
|
|
|
NM_012144.4(DNAI1):c.603C>G (p.Thr201=)
|
rs8181087
|
|
|
NM_012144.4(DNAI1):c.606C>T (p.Tyr202=)
|
rs1824565965
|
|
|
NM_012144.4(DNAI1):c.611A>G (p.Asn204Ser)
|
|
|
|
NM_012144.4(DNAI1):c.615T>C (p.Pro205=)
|
rs1824566223
|
|
|
NM_012144.4(DNAI1):c.621+12C>T
|
rs1230892242
|
|
|
NM_012144.4(DNAI1):c.621+13C>T
|
rs2492034797
|
|
|
NM_012144.4(DNAI1):c.621+14C>A
|
rs2492034799
|
|
|
NM_012144.4(DNAI1):c.621+14C>T
|
rs2492034799
|
|
|
NM_012144.4(DNAI1):c.621+14dup
|
rs757124110
|
|
|
NM_012144.4(DNAI1):c.621+17C>G
|
rs1824566968
|
|
|
NM_012144.4(DNAI1):c.621+9G>A
|
rs2492034775
|
|
|
NM_012144.4(DNAI1):c.622-10T>C
|
rs2492037936
|
|
|
NM_012144.4(DNAI1):c.622-2A>G
|
rs1824590832
|
|
|
NM_012144.4(DNAI1):c.622-9G>C
|
rs1317000391
|
|
|
NM_012144.4(DNAI1):c.625C>T (p.Arg209Ter)
|
rs769224534
|
|
|
NM_012144.4(DNAI1):c.634C>T (p.Gln212Ter)
|
rs2492038105
|
|
|
NM_012144.4(DNAI1):c.646C>T (p.Pro216Ser)
|
rs1824592383
|
|
|
NM_012144.4(DNAI1):c.651C>A (p.Pro217=)
|
rs1245998306
|
|
|
NM_012144.4(DNAI1):c.651dup (p.Arg218fs)
|
|
|
|
NM_012144.4(DNAI1):c.654G>A (p.Arg218=)
|
rs2492038227
|
|
|
NM_012144.4(DNAI1):c.663_664del (p.Ala223fs)
|
rs2132063305
|
|
|
NM_012144.4(DNAI1):c.675C>T (p.Ala225=)
|
rs2492038384
|
|
|
NM_012144.4(DNAI1):c.681+14C>A
|
|
|
|
NM_012144.4(DNAI1):c.681+20T>C
|
rs1824595080
|
|
|
NM_012144.4(DNAI1):c.681+8C>G
|
rs2492038452
|
|
|
NM_012144.4(DNAI1):c.681+8C>T
|
|
|
|
NM_012144.4(DNAI1):c.682-10C>T
|
rs748769889
|
|
|
NM_012144.4(DNAI1):c.682-11C>A
|
rs186333447
|
|
|
NM_012144.4(DNAI1):c.682-16T>C
|
|
|
|
NM_012144.4(DNAI1):c.682-1G>A
|
rs2132065273
|
|
|
NM_012144.4(DNAI1):c.682-6G>C
|
rs2492044507
|
|
|
NM_012144.4(DNAI1):c.682-9C>T
|
rs2492044498
|
|
|
NM_012144.4(DNAI1):c.683G>A (p.Trp228Ter)
|
rs1824643950
|
|
|
NM_012144.4(DNAI1):c.688_689del (p.Ile230fs)
|
rs2132065290
|
|
|
NM_012144.4(DNAI1):c.693T>C (p.Tyr231=)
|
rs1022431793
|
|
|
NM_012144.4(DNAI1):c.696T>C (p.Asp232=)
|
rs2132065303
|
|
|
NM_012144.4(DNAI1):c.705A>C (p.Val235=)
|
rs2132065332
|
|
|
NM_012144.4(DNAI1):c.705A>G (p.Val235=)
|
rs2132065332
|
|
|
NM_012144.4(DNAI1):c.710A>T (p.Glu237Val)
|
rs1824644753
|
|
|
NM_012144.4(DNAI1):c.711A>G (p.Glu237=)
|
rs2492044698
|
|
|
NM_012144.4(DNAI1):c.712C>A (p.Leu238Ile)
|
rs1275461623
|
|
|
NM_012144.4(DNAI1):c.718A>T (p.Lys240Ter)
|
rs2492044745
|
|
|
NM_012144.4(DNAI1):c.723G>A (p.Gln241=)
|
rs2492044779
|
|
|
NM_012144.4(DNAI1):c.726A>G (p.Glu242=)
|
rs2132065376
|
|
|
NM_012144.4(DNAI1):c.732C>G (p.Thr244=)
|
rs947504661
|
|
|
NM_012144.4(DNAI1):c.732C>T (p.Thr244=)
|
rs947504661
|
|
|
NM_012144.4(DNAI1):c.741G>T (p.Lys247Asn)
|
rs562408105
|
|
|
NM_012144.4(DNAI1):c.747G>A (p.Lys249=)
|
rs764172924
|
|
|
NM_012144.4(DNAI1):c.753G>A (p.Lys251=)
|
rs1167979080
|
|
|
NM_012144.4(DNAI1):c.755C>A (p.Thr252Asn)
|
|
|
|
NM_012144.4(DNAI1):c.75G>A (p.Arg25=)
|
rs2132055905
|
|
|
NM_012144.4(DNAI1):c.762G>A (p.Val254=)
|
rs1427393338
|
|
|
NM_012144.4(DNAI1):c.763G>A (p.Ala255Thr)
|
rs373703151
|
|
|
NM_012144.4(DNAI1):c.76A>C (p.Lys26Gln)
|
|
|
|
NM_012144.4(DNAI1):c.771A>G (p.Lys257=)
|
rs761802925
|
|
|
NM_012144.4(DNAI1):c.780G>T (p.Lys260Asn)
|
rs2132065479
|
|
|
NM_012144.4(DNAI1):c.786C>T (p.Ala262=)
|
rs2132065491
|
|
|
NM_012144.4(DNAI1):c.787A>G (p.Met263Val)
|
rs750194621
|
|
|
NM_012144.4(DNAI1):c.78G>A (p.Lys26=)
|
rs2132055908
|
|
|
NM_012144.4(DNAI1):c.798G>A (p.Leu266=)
|
|
|
|
NM_012144.4(DNAI1):c.7C>T (p.Pro3Ser)
|
rs762886409
|
|
|
NM_012144.4(DNAI1):c.803C>T (p.Ser268Phe)
|
rs1824648112
|
|
|
NM_012144.4(DNAI1):c.804T>G (p.Ser268=)
|
rs2132065526
|
|
|
NM_012144.4(DNAI1):c.806T>C (p.Met269Thr)
|
rs1564034204
|
|
|
NM_012144.4(DNAI1):c.81+14C>G
|
rs1824414793
|
|
|
NM_012144.4(DNAI1):c.81+18C>T
|
rs2492022796
|
|
|
NM_012144.4(DNAI1):c.81+9T>C
|
|
|
|
NM_012144.4(DNAI1):c.814C>G (p.Gln272Glu)
|
rs1267340723
|
|
|
NM_012144.4(DNAI1):c.814C>T (p.Gln272Ter)
|
|
|
|
NM_012144.4(DNAI1):c.816+15C>G
|
rs1587073551
|
|
|
NM_012144.4(DNAI1):c.816+16C>G
|
rs2492045247
|
|
|
NM_012144.4(DNAI1):c.816+16C>T
|
rs2492045247
|
|
|
NM_012144.4(DNAI1):c.816+19C>T
|
rs2492045260
|
|
|
NM_012144.4(DNAI1):c.816+20A>G
|
rs1824649518
|
|
|
NM_012144.4(DNAI1):c.816+20A>T
|
|
|
|
NM_012144.4(DNAI1):c.817-18G>A
|
rs2492058159
|
|
|
NM_012144.4(DNAI1):c.817-2A>G
|
rs2132068900
|
|
|
NM_012144.4(DNAI1):c.817-7C>T
|
rs1587076750
|
|
|
NM_012144.4(DNAI1):c.82-11T>A
|
rs2492025408
|
|
|
NM_012144.4(DNAI1):c.82-11T>C
|
rs2492025408
|
|
|
NM_012144.4(DNAI1):c.82-12G>A
|
rs1824445018
|
|
|
NM_012144.4(DNAI1):c.82-12del
|
rs2492025401
|
|
|
NM_012144.4(DNAI1):c.82-20C>T
|
|
|
|
NM_012144.4(DNAI1):c.82-6G>A
|
rs2492025414
|
|
|
NM_012144.4(DNAI1):c.82-8T>C
|
rs1824445067
|
|
|
NM_012144.4(DNAI1):c.831C>T (p.Ile277=)
|
rs139611887
|
|
|
NM_012144.4(DNAI1):c.837G>A (p.Leu279=)
|
rs2492058348
|
|
|
NM_012144.4(DNAI1):c.840C>T (p.Ser280=)
|
rs2132068936
|
|
|
NM_012144.4(DNAI1):c.843A>G (p.Gln281=)
|
rs2492058374
|
|
|
NM_012144.4(DNAI1):c.861G>A (p.Glu287=)
|
rs2492058471
|
|
|
NM_012144.4(DNAI1):c.864G>A (p.Arg288=)
|
rs1824742311
|
|
|
NM_012144.4(DNAI1):c.864G>C (p.Arg288=)
|
rs1824742311
|
|
|
NM_012144.4(DNAI1):c.864G>T (p.Arg288=)
|
rs1824742311
|
|
|
NM_012144.4(DNAI1):c.864del (p.Met289fs)
|
rs2492058503
|
|
|
NM_012144.4(DNAI1):c.876G>C (p.Gln292His)
|
rs1291629888
|
|
|
NM_012144.4(DNAI1):c.885_886dup (p.Asp296fs)
|
rs2492058692
|
|
|
NM_012144.4(DNAI1):c.891C>T (p.Asp297=)
|
rs2132069010
|
|
|
NM_012144.4(DNAI1):c.896C>T (p.Ala299Val)
|
|
|
|
NM_012144.4(DNAI1):c.897T>C (p.Ala299=)
|
rs2492058761
|
|
|
NM_012144.4(DNAI1):c.901+12A>T
|
rs2492058823
|
|
|
NM_012144.4(DNAI1):c.901+16C>A
|
|
|
|
NM_012144.4(DNAI1):c.901+1G>A
|
rs908149058
|
|
|
NM_012144.4(DNAI1):c.901+1G>T
|
rs908149058
|
|
|
NM_012144.4(DNAI1):c.901+20C>A
|
rs1824744034
|
|
|
NM_012144.4(DNAI1):c.901+7G>A
|
rs2492058803
|
|
|
NM_012144.4(DNAI1):c.902-11G>A
|
rs780334791
|
|
|
NM_012144.4(DNAI1):c.902-13G>A
|
rs45600639
|
|
|
NM_012144.4(DNAI1):c.902-13G>C
|
rs45600639
|
|
|
NM_012144.4(DNAI1):c.902-16C>G
|
rs2132071917
|
|
|
NM_012144.4(DNAI1):c.902-2A>G
|
rs2132071947
|
|
|
NM_012144.4(DNAI1):c.902-6T>C
|
rs1824812543
|
|
|
NM_012144.4(DNAI1):c.918C>G (p.Asp306Glu)
|
rs772207177
|
|
|
NM_012144.4(DNAI1):c.927T>A (p.Ala309=)
|
|
|
|
NM_012144.4(DNAI1):c.92C>G (p.Ser31Ter)
|
rs2492025436
|
|
|
NM_012144.4(DNAI1):c.937C>T (p.Arg313Trp)
|
rs1285752841
|
|
|
NM_012144.4(DNAI1):c.93A>G (p.Ser31=)
|
rs2492025437
|
|
|
NM_012144.4(DNAI1):c.944A>G (p.Gln315Arg)
|
rs1824814380
|
|
|
NM_012144.4(DNAI1):c.944_947dup (p.Thr318fs)
|
rs2492072291
|
|
|
NM_012144.4(DNAI1):c.947dup (p.Thr318fs)
|
rs2492072326
|
|
|
NM_012144.4(DNAI1):c.956T>A (p.Leu319Gln)
|
rs2492072396
|
|
|
NM_012144.4(DNAI1):c.958C>T (p.Leu320=)
|
rs1455960391
|
|
|
NM_012144.4(DNAI1):c.960G>T (p.Leu320=)
|
rs2132072031
|
|
|
NM_012144.4(DNAI1):c.963G>C (p.Pro321=)
|
rs762694599
|
|
|
NM_012144.4(DNAI1):c.963G>T (p.Pro321=)
|
rs762694599
|
|
|
NM_012144.4(DNAI1):c.96G>A (p.Gly32=)
|
rs2492025444
|
|
|
NM_012144.4(DNAI1):c.978A>G (p.Gln326=)
|
|
|
|
NM_012144.4(DNAI1):c.984C>T (p.Asp328=)
|
rs2132072063
|
|
|
NM_012144.4(DNAI1):c.994C>T (p.Arg332Cys)
|
rs182015909
|
|
|
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.354_355del (p.Phe119fs)
|
rs1821475039
|
|
|
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_015512.5(DNAH1):c.10317C>G (p.Ile3439Met)
|
rs419050
|
|
|
NM_015512.5(DNAH1):c.10394A>G (p.Asn3465Ser)
|
rs375477856
|
|
|
NM_015512.5(DNAH1):c.10919T>C (p.Met3640Thr)
|
rs1578204270
|
|
|
NM_015512.5(DNAH1):c.11539G>C (p.Asp3847His)
|
rs763059648
|
|
|
NM_015512.5(DNAH1):c.2929A>T (p.Asn977Tyr)
|
rs1702436070
|
|
|
NM_015512.5(DNAH1):c.3431_3432delinsAT (p.Ser1144Asn)
|
rs1702487234
|
|
|
NM_015512.5(DNAH1):c.4934_4935del (p.Val1645fs)
|
|
|
|
NM_015512.5(DNAH1):c.5445_5457delinsT (p.Glu1815_Tyr1819delinsAsp)
|
rs1703011374
|
|
|
NM_015512.5(DNAH1):c.8677A>G (p.Ile2893Val)
|
rs1704102151
|
|
|
NM_015512.5(DNAH1):c.9496-4_9499del
|
|
|
|
NM_015896.4(ZMYND10):c.1028G>A (p.Arg343Gln)
|
rs755967305
|
|
|
NM_015896.4(ZMYND10):c.1035C>T (p.Asn345=)
|
|
|
|
NM_015896.4(ZMYND10):c.1046G>A (p.Trp349Ter)
|
|
|
|
NM_015896.4(ZMYND10):c.1053A>G (p.Ala351=)
|
rs757608476
|
|
|
NM_015896.4(ZMYND10):c.1077T>C (p.His359=)
|
|
|
|
NM_015896.4(ZMYND10):c.1104G>A (p.Leu368=)
|
rs1703388927
|
|
|
NM_015896.4(ZMYND10):c.1116G>T (p.Ala372=)
|
rs143000634
|
|
|
NM_015896.4(ZMYND10):c.1117C>G (p.Arg373Gly)
|
rs746007602
|
|
|
NM_015896.4(ZMYND10):c.1121+1G>A
|
|
|
|
NM_015896.4(ZMYND10):c.1122-18T>C
|
rs2470919324
|
|
|
NM_015896.4(ZMYND10):c.1122-6C>T
|
rs1703382873
|
|
|
NM_015896.4(ZMYND10):c.1122-9T>G
|
|
|
|
NM_015896.4(ZMYND10):c.1177C>G (p.Arg393Gly)
|
rs587740488
|
|
|
NM_015896.4(ZMYND10):c.1178G>A (p.Arg393His)
|
rs200276907
|
|
|
NM_015896.4(ZMYND10):c.1197A>G (p.Ala399=)
|
rs1703379284
|
|
|
NM_015896.4(ZMYND10):c.1220G>C (p.Arg407Pro)
|
rs182064110
|
|
|
NM_015896.4(ZMYND10):c.1247+13T>C
|
|
|
|
NM_015896.4(ZMYND10):c.1252_1253insA (p.Cys418Ter)
|
rs1553720370
|
|
|
NM_015896.4(ZMYND10):c.1263G>A (p.Lys421=)
|
|
|
|
NM_015896.4(ZMYND10):c.1270G>A (p.Glu424Lys)
|
rs1575551902
|
|
|
NM_015896.4(ZMYND10):c.145G>A (p.Asp49Asn)
|
rs1486742632
|
|
|
NM_015896.4(ZMYND10):c.152C>T (p.Thr51Ile)
|
rs2470926793
|
|
|
NM_015896.4(ZMYND10):c.159C>A (p.Ser53Arg)
|
rs1703505766
|
|
|
NM_015896.4(ZMYND10):c.168G>A (p.Glu56=)
|
rs750165782
|
|
|
NM_015896.4(ZMYND10):c.1A>G (p.Met1Val)
|
rs1703520578
|
|
|
NM_015896.4(ZMYND10):c.201+9A>T
|
rs1399260098
|
|
|
NM_015896.4(ZMYND10):c.202-11A>C
|
rs1216511213
|
|
|
NM_015896.4(ZMYND10):c.202-11A>G
|
rs1216511213
|
|
|
NM_015896.4(ZMYND10):c.202G>A (p.Val68Ile)
|
|
|
|
NM_015896.4(ZMYND10):c.236A>G (p.Glu79Gly)
|
rs1438398042
|
|
|
NM_015896.4(ZMYND10):c.240G>A (p.Met80Ile)
|
rs1703461215
|
|
|
NM_015896.4(ZMYND10):c.294G>A (p.Gln98=)
|
rs770280907
|
|
|
NM_015896.4(ZMYND10):c.299C>T (p.Thr100Ile)
|
rs2470924460
|
|
|
NM_015896.4(ZMYND10):c.300del (p.Phe101fs)
|
rs587777043
|
|
|
NM_015896.4(ZMYND10):c.312C>T (p.Tyr104=)
|
rs2470924440
|
|
|
NM_015896.4(ZMYND10):c.319-3C>T
|
rs1264654207
|
|
|
NM_015896.4(ZMYND10):c.328G>A (p.Glu110Lys)
|
|
|
|
NM_015896.4(ZMYND10):c.340A>C (p.Ile114Leu)
|
|
|
|
NM_015896.4(ZMYND10):c.354G>A (p.Glu118=)
|
|
|
|
NM_015896.4(ZMYND10):c.356C>T (p.Thr119Ile)
|
rs1352736044
|
|
|
NM_015896.4(ZMYND10):c.359T>C (p.Val120Ala)
|
rs1575555288
|
|
|
NM_015896.4(ZMYND10):c.372+18C>T
|
|
|
|
NM_015896.4(ZMYND10):c.372+20C>T
|
rs2470924093
|
|
|
NM_015896.4(ZMYND10):c.372+9C>T
|
rs748923232
|
|
|
NM_015896.4(ZMYND10):c.373-13C>A
|
|
|
|
NM_015896.4(ZMYND10):c.373-17CCT[2]
|
rs769839734
|
|
|
NM_015896.4(ZMYND10):c.383A>T (p.Glu128Val)
|
|
|
|
NM_015896.4(ZMYND10):c.383_384del (p.Glu128fs)
|
|
|
|
NM_015896.4(ZMYND10):c.43C>T (p.Leu15=)
|
rs775130379
|
|
|
NM_015896.4(ZMYND10):c.477G>A (p.Glu159=)
|
rs377737133
|
|
|
NM_015896.4(ZMYND10):c.477G>T (p.Glu159Asp)
|
rs377737133
|
|
|
NM_015896.4(ZMYND10):c.510+18A>G
|
|
|
|
NM_015896.4(ZMYND10):c.511-1G>A
|
|
|
|
NM_015896.4(ZMYND10):c.521A>G (p.Lys174Arg)
|
|
|
|
NM_015896.4(ZMYND10):c.53G>T (p.Gly18Val)
|
rs1703518565
|
|
|
NM_015896.4(ZMYND10):c.562C>G (p.Leu188Val)
|
rs1340705610
|
|
|
NM_015896.4(ZMYND10):c.564C>T (p.Leu188=)
|
rs144295551
|
|
|
NM_015896.4(ZMYND10):c.578A>G (p.Tyr193Cys)
|
rs2470923420
|
|
|
NM_015896.4(ZMYND10):c.599+10C>A
|
|
|
|
NM_015896.4(ZMYND10):c.599+18del
|
|
|
|
NM_015896.4(ZMYND10):c.599+19C>T
|
rs1296182516
|
|
|
NM_015896.4(ZMYND10):c.600-15C>A
|
rs774249609
|
|
|
NM_015896.4(ZMYND10):c.600-22_600-12del
|
rs1703437440
|
|
|
NM_015896.4(ZMYND10):c.600-9_600-8insA
|
rs1703437359
|
|
|
NM_015896.4(ZMYND10):c.624T>A (p.Arg208=)
|
rs2109357591
|
|
|
NM_015896.4(ZMYND10):c.633C>T (p.Ser211=)
|
rs2470922913
|
|
|
NM_015896.4(ZMYND10):c.637C>A (p.His213Asn)
|
rs199711270
|
|
|
NM_015896.4(ZMYND10):c.645G>A (p.Leu215=)
|
|
|
|
NM_015896.4(ZMYND10):c.672G>A (p.Glu224=)
|
|
|
|
NM_015896.4(ZMYND10):c.700+15C>A
|
rs191853356
|
|
|
NM_015896.4(ZMYND10):c.700+15C>G
|
rs191853356
|
|
|
NM_015896.4(ZMYND10):c.700+1G>A
|
rs1297857806
|
|
|
NM_015896.4(ZMYND10):c.700+7T>C
|
|
|
|
NM_015896.4(ZMYND10):c.709C>T (p.Gln237Ter)
|
rs2109356957
|
|
|
NM_015896.4(ZMYND10):c.717C>T (p.Phe239=)
|
|
|
|
NM_015896.4(ZMYND10):c.732G>A (p.Trp244Ter)
|
rs1161101663
|
|
|
NM_015896.4(ZMYND10):c.76G>T (p.Glu26Ter)
|
rs1335327546
|
|
|
NM_015896.4(ZMYND10):c.774G>A (p.Leu258=)
|
|
|
|
NM_015896.4(ZMYND10):c.775G>A (p.Asp259Asn)
|
rs772481555
|
|
|
NM_015896.4(ZMYND10):c.775G>T (p.Asp259Tyr)
|
rs772481555
|
|
|
NM_015896.4(ZMYND10):c.815G>A (p.Ser272Asn)
|
rs1376562082
|
|
|
NM_015896.4(ZMYND10):c.833G>A (p.Arg278His)
|
rs746014252
|
|
|
NM_015896.4(ZMYND10):c.852T>A (p.Phe284Leu)
|
rs760826410
|
|
|
NM_015896.4(ZMYND10):c.863G>A (p.Arg288Gln)
|
rs767713937
|
|
|
NM_015896.4(ZMYND10):c.873+18C>G
|
rs1575553768
|
|
|
NM_015896.4(ZMYND10):c.873+20A>C
|
rs2470921398
|
|
|
NM_015896.4(ZMYND10):c.87del (p.Glu30fs)
|
rs1703516483
|
|
|
NM_015896.4(ZMYND10):c.88G>T (p.Glu30Ter)
|
rs587731307
|
|
|
NM_015896.4(ZMYND10):c.903G>A (p.Leu301=)
|
|
|
|
NM_015896.4(ZMYND10):c.931C>T (p.Gln311Ter)
|
|
|
|
NM_015896.4(ZMYND10):c.93G>A (p.Gly31=)
|
rs1703507170
|
|
|
NM_015896.4(ZMYND10):c.942G>C (p.Leu314=)
|
rs2470920514
|
|
|
NM_015896.4(ZMYND10):c.954C>A (p.Thr318=)
|
rs1703397193
|
|
|
NM_015896.4(ZMYND10):c.999+5G>C
|
|
|
|
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.1018C>G (p.Pro340Ala)
|
rs1380705915
|
|
|
NM_017802.4(DNAAF5):c.1024+10C>A
|
rs375071932
|
|
|
NM_017802.4(DNAAF5):c.1024+10C>T
|
rs375071932
|
|
|
NM_017802.4(DNAAF5):c.1024+11G>A
|
rs201554395
|
|
|
NM_017802.4(DNAAF5):c.1024+11G>T
|
rs201554395
|
|
|
NM_017802.4(DNAAF5):c.1024+19G>A
|
rs1781910923
|
|
|
NM_017802.4(DNAAF5):c.1025-14C>T
|
rs2484100298
|
|
|
NM_017802.4(DNAAF5):c.1025-7G>C
|
rs748574039
|
|
|
NM_017802.4(DNAAF5):c.1028G>A (p.Arg343His)
|
|
|
|
NM_017802.4(DNAAF5):c.1030C>T (p.Arg344Cys)
|
rs1583495983
|
|
|
NM_017802.4(DNAAF5):c.1042G>T (p.Gly348Cys)
|
rs1782423731
|
|
|
NM_017802.4(DNAAF5):c.1069C>T (p.Leu357Phe)
|
rs2484100950
|
|
|
NM_017802.4(DNAAF5):c.1108G>T (p.Asp370Tyr)
|
rs200573334
|
|
|
NM_017802.4(DNAAF5):c.1127G>A (p.Arg376Gln)
|
rs760488601
|
|
|
NM_017802.4(DNAAF5):c.114G>A (p.Leu38=)
|
|
|
|
NM_017802.4(DNAAF5):c.114G>T (p.Leu38=)
|
rs1411422606
|
|
|
NM_017802.4(DNAAF5):c.1155G>A (p.Val385=)
|
rs757616288
|
|
|
NM_017802.4(DNAAF5):c.1170C>T (p.Ala390=)
|
rs746393600
|
|
|
NM_017802.4(DNAAF5):c.1215G>A (p.Leu405=)
|
rs2484101697
|
|
|
NM_017802.4(DNAAF5):c.1219dup (p.Gln407fs)
|
rs2484101705
|
|
|
NM_017802.4(DNAAF5):c.1221G>C (p.Gln407His)
|
rs1782430981
|
|
|
NM_017802.4(DNAAF5):c.1239G>T (p.Glu413Asp)
|
rs776506185
|
|
|
NM_017802.4(DNAAF5):c.1244C>T (p.Ala415Val)
|
|
|
|
NM_017802.4(DNAAF5):c.1255A>G (p.Ser419Gly)
|
rs1327498994
|
|
|
NM_017802.4(DNAAF5):c.1257+11G>A
|
|
|
|
NM_017802.4(DNAAF5):c.1257+16C>G
|
rs756448332
|
|
|
NM_017802.4(DNAAF5):c.1257+16C>T
|
|
|
|
NM_017802.4(DNAAF5):c.1258-17A>G
|
rs1197699017
|
|
|
NM_017802.4(DNAAF5):c.1258-2A>G
|
rs1782497993
|
|
|
NM_017802.4(DNAAF5):c.1258-3C>T
|
rs1562388213
|
|
|
NM_017802.4(DNAAF5):c.1258-4G>A
|
rs202056316
|
|
|
NM_017802.4(DNAAF5):c.1258-4G>T
|
rs202056316
|
|
|
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>A (p.Val427Ile)
|
rs372983996
|
|
|
NM_017802.4(DNAAF5):c.1279G>T (p.Val427Phe)
|
rs372983996
|
|
|
NM_017802.4(DNAAF5):c.1290T>C (p.Phe430=)
|
rs2128078886
|
|
|
NM_017802.4(DNAAF5):c.130C>T (p.Pro44Ser)
|
rs2484000554
|
|
|
NM_017802.4(DNAAF5):c.1311G>C (p.Leu437=)
|
rs1008026692
|
|
|
NM_017802.4(DNAAF5):c.1324T>C (p.Ser442Pro)
|
|
|
|
NM_017802.4(DNAAF5):c.1329G>C (p.Thr443=)
|
|
|
|
NM_017802.4(DNAAF5):c.1347T>G (p.Ser449=)
|
|
|
|
NM_017802.4(DNAAF5):c.1350C>G (p.Ala450=)
|
rs2128078908
|
|
|
NM_017802.4(DNAAF5):c.1403T>A (p.Leu468His)
|
|
|
|
NM_017802.4(DNAAF5):c.141G>A (p.Arg47=)
|
rs1188978283
|
|
|
NM_017802.4(DNAAF5):c.1437G>A (p.Leu479=)
|
rs2128078963
|
|
|
NM_017802.4(DNAAF5):c.1470+12T>G
|
rs2128078986
|
|
|
NM_017802.4(DNAAF5):c.1471-1G>A
|
rs767460655
|
|
|
NM_017802.4(DNAAF5):c.1471G>A (p.Asp491Asn)
|
rs1431048395
|
|
|
NM_017802.4(DNAAF5):c.1473C>T (p.Asp491=)
|
|
|
|
NM_017802.4(DNAAF5):c.1495C>A (p.Leu499Met)
|
rs748956616
|
|
|
NM_017802.4(DNAAF5):c.1497G>A (p.Leu499=)
|
rs1782652754
|
|
|
NM_017802.4(DNAAF5):c.1508C>T (p.Ala503Val)
|
rs367962150
|
|
|
NM_017802.4(DNAAF5):c.1515G>A (p.Val505=)
|
rs946867417
|
|
|
NM_017802.4(DNAAF5):c.1526A>G (p.His509Arg)
|
|
|
|
NM_017802.4(DNAAF5):c.1533C>G (p.Asp511Glu)
|
|
|
|
NM_017802.4(DNAAF5):c.1537G>A (p.Gly513Ser)
|
rs765393246
|
|
|
NM_017802.4(DNAAF5):c.153G>A (p.Glu51=)
|
|
|
|
NM_017802.4(DNAAF5):c.1540G>A (p.Val514Met)
|
|
|
|
NM_017802.4(DNAAF5):c.1544C>T (p.Ala515Val)
|
rs878855034
|
|
|
NM_017802.4(DNAAF5):c.1569G>C (p.Leu523=)
|
|
|
|
NM_017802.4(DNAAF5):c.1575A>C (p.Thr525=)
|
rs754710920
|
|
|
NM_017802.4(DNAAF5):c.1576A>C (p.Ile526Leu)
|
rs778680655
|
|
|
NM_017802.4(DNAAF5):c.15G>C (p.Gly5=)
|
rs1457734920
|
|
|
NM_017802.4(DNAAF5):c.160C>G (p.Arg54Gly)
|
rs1245470608
|
|
|
NM_017802.4(DNAAF5):c.1614+12_1614+14del
|
|
|
|
NM_017802.4(DNAAF5):c.1614+13G>A
|
rs778381553
|
|
|
NM_017802.4(DNAAF5):c.1620G>A (p.Gln540=)
|
|
|
|
NM_017802.4(DNAAF5):c.1641C>T (p.Ala547=)
|
rs2484129762
|
|
|
NM_017802.4(DNAAF5):c.1645G>A (p.Val549Met)
|
rs746007264
|
|
|
NM_017802.4(DNAAF5):c.1652G>T (p.Gly551Val)
|
rs1482588393
|
|
|
NM_017802.4(DNAAF5):c.1679G>A (p.Arg560His)
|
rs760358814
|
|
|
NM_017802.4(DNAAF5):c.1689T>G (p.Ile563Met)
|
rs151227818
|
|
|
NM_017802.4(DNAAF5):c.1704G>A (p.Glu568=)
|
rs2128081094
|
|
|
NM_017802.4(DNAAF5):c.1708G>C (p.Val570Leu)
|
rs909255404
|
|
|
NM_017802.4(DNAAF5):c.1713C>G (p.Thr571=)
|
rs200806559
|
|
|
NM_017802.4(DNAAF5):c.1713C>T (p.Thr571=)
|
|
|
|
NM_017802.4(DNAAF5):c.1716G>A (p.Ala572=)
|
rs778984123
|
|
|
NM_017802.4(DNAAF5):c.1716G>T (p.Ala572=)
|
|
|
|
NM_017802.4(DNAAF5):c.1734C>G (p.Thr578=)
|
|
|
|
NM_017802.4(DNAAF5):c.1734C>T (p.Thr578=)
|
rs201710687
|
|
|
NM_017802.4(DNAAF5):c.1763G>T (p.Ser588Ile)
|
|
|
|
NM_017802.4(DNAAF5):c.1773C>A (p.Val591=)
|
rs185154075
|
|
|
NM_017802.4(DNAAF5):c.1773C>T (p.Val591=)
|
rs185154075
|
|
|
NM_017802.4(DNAAF5):c.1777_1778del (p.Gln593fs)
|
rs1782745000
|
|
|
NM_017802.4(DNAAF5):c.177G>T (p.Glu59Asp)
|
|
|
|
NM_017802.4(DNAAF5):c.1783+12C>G
|
rs745617671
|
|
|
NM_017802.4(DNAAF5):c.1783+12C>T
|
|
|
|
NM_017802.4(DNAAF5):c.1783+13G>A
|
|
|
|
NM_017802.4(DNAAF5):c.1783+13G>T
|
rs201316573
|
|
|
NM_017802.4(DNAAF5):c.1784-14_1784-13del
|
rs754684802
|
|
|
NM_017802.4(DNAAF5):c.1785C>T (p.Gly595=)
|
|
|
|
NM_017802.4(DNAAF5):c.1791C>T (p.Ala597=)
|
rs763985265
|
|
|
NM_017802.4(DNAAF5):c.1797A>T (p.Gly599=)
|
rs376945935
|
|
|
NM_017802.4(DNAAF5):c.1809A>T (p.Pro603=)
|
|
|
|
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.1824G>A (p.Thr608=)
|
rs550907142
|
|
|
NM_017802.4(DNAAF5):c.1830G>A (p.Arg610=)
|
|
|
|
NM_017802.4(DNAAF5):c.1837C>T (p.Leu613=)
|
|
|
|
NM_017802.4(DNAAF5):c.1839G>A (p.Leu613=)
|
rs751508824
|
|
|
NM_017802.4(DNAAF5):c.1856C>G (p.Pro619Arg)
|
rs755871359
|
|
|
NM_017802.4(DNAAF5):c.1875G>A (p.Leu625=)
|
|
|
|
NM_017802.4(DNAAF5):c.187G>A (p.Ala63Thr)
|
|
|
|
NM_017802.4(DNAAF5):c.1893C>G (p.Thr631=)
|
|
|
|
NM_017802.4(DNAAF5):c.1893_1895delinsTGC (p.Val632Ala)
|
rs2484154327
|
|
|
NM_017802.4(DNAAF5):c.189C>T (p.Ala63=)
|
|
|
|
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.1931+12C>A
|
|
|
|
NM_017802.4(DNAAF5):c.1931G>C (p.Gly644Ala)
|
rs1474459920
|
|
|
NM_017802.4(DNAAF5):c.1932-16_1932-15del
|
rs1453293793
|
|
|
NM_017802.4(DNAAF5):c.1932-20C>T
|
rs774998148
|
|
|
NM_017802.4(DNAAF5):c.1956G>A (p.Thr652=)
|
rs771037656
|
|
|
NM_017802.4(DNAAF5):c.1956G>T (p.Thr652=)
|
|
|
|
NM_017802.4(DNAAF5):c.1977C>G (p.Ala659=)
|
rs535762447
|
|
|
NM_017802.4(DNAAF5):c.1978C>A (p.Pro660Thr)
|
rs1778670673
|
|
|
NM_017802.4(DNAAF5):c.1989G>A (p.Gln663=)
|
|
|
|
NM_017802.4(DNAAF5):c.1995T>A (p.His665Gln)
|
rs768081340
|
|
|
NM_017802.4(DNAAF5):c.2003G>A (p.Arg668Lys)
|
rs555500022
|
|
|
NM_017802.4(DNAAF5):c.2012C>T (p.Ala671Val)
|
|
|
|
NM_017802.4(DNAAF5):c.2013_2028delinsATGGCC (p.Ala672fs)
|
rs1583517442
|
|
|
NM_017802.4(DNAAF5):c.2015C>G (p.Ala672Gly)
|
rs2128084811
|
|
|
NM_017802.4(DNAAF5):c.2021G>T (p.Arg674Leu)
|
rs1334255725
|
|
|
NM_017802.4(DNAAF5):c.2028T>C (p.Ala676=)
|
rs1583517485
|
|
|
NM_017802.4(DNAAF5):c.2031C>T (p.Ala677=)
|
rs371581269
|
|
|
NM_017802.4(DNAAF5):c.2045G>T (p.Trp682Leu)
|
|
|
|
NM_017802.4(DNAAF5):c.2052C>G (p.Leu684=)
|
|
|
|
NM_017802.4(DNAAF5):c.2082+5G>A
|
rs1027651909
|
|
|
NM_017802.4(DNAAF5):c.2082+8del
|
rs878855035
|
|
|
NM_017802.4(DNAAF5):c.208C>T (p.Gln70Ter)
|
rs746849639
|
|
|
NM_017802.4(DNAAF5):c.2093T>G (p.Val698Gly)
|
|
|
|
NM_017802.4(DNAAF5):c.20C>T (p.Ala7Val)
|
|
|
|
NM_017802.4(DNAAF5):c.2108_2114delinsCCACCCTGGGT (p.Met703fs)
|
rs1554255966
|
|
|
NM_017802.4(DNAAF5):c.2119C>T (p.Leu707=)
|
rs2484170309
|
|
|
NM_017802.4(DNAAF5):c.2128C>T (p.Leu710=)
|
rs2484170337
|
|
|
NM_017802.4(DNAAF5):c.2129_2140del (p.Leu710_Ser714delinsPro)
|
rs2484170356
|
|
|
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.2151G>A (p.Thr717=)
|
rs199762403
|
|
|
NM_017802.4(DNAAF5):c.215C>T (p.Pro72Leu)
|
rs2128538232
|
|
|
NM_017802.4(DNAAF5):c.2163A>C (p.Ser721=)
|
|
|
|
NM_017802.4(DNAAF5):c.2164T>C (p.Cys722Arg)
|
|
|
|
NM_017802.4(DNAAF5):c.2168G>A (p.Arg723His)
|
rs756813208
|
|
|
NM_017802.4(DNAAF5):c.2168G>C (p.Arg723Pro)
|
rs756813208
|
|
|
NM_017802.4(DNAAF5):c.2180C>T (p.Thr727Met)
|
|
|
|
NM_017802.4(DNAAF5):c.2181G>A (p.Thr727=)
|
rs746205271
|
|
|
NM_017802.4(DNAAF5):c.218G>A (p.Trp73Ter)
|
rs915848808
|
|
|
NM_017802.4(DNAAF5):c.2197G>A (p.Gly733Ser)
|
rs2128085181
|
|
|
NM_017802.4(DNAAF5):c.2199C>T (p.Gly733=)
|
|
|
|
NM_017802.4(DNAAF5):c.2230A>G (p.Ile744Val)
|
rs2484170745
|
|
|
NM_017802.4(DNAAF5):c.2236C>T (p.Pro746Ser)
|
|
|
|
NM_017802.4(DNAAF5):c.223C>T (p.Arg75Cys)
|
|
|
|
NM_017802.4(DNAAF5):c.2240-16C>T
|
|
|
|
NM_017802.4(DNAAF5):c.2240-18C>T
|
rs1199014831
|
|
|
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.2316G>A (p.Gln772=)
|
|
|
|
NM_017802.4(DNAAF5):c.2320_2321del (p.Val774fs)
|
rs1215481060
|
|
|
NM_017802.4(DNAAF5):c.2340A>C (p.Lys780Asn)
|
rs2484185137
|
|
|
NM_017802.4(DNAAF5):c.234G>A (p.Leu78=)
|
|
|
|
NM_017802.4(DNAAF5):c.2353_2354del (p.Ser785fs)
|
rs878855036
|
|
|
NM_017802.4(DNAAF5):c.2364G>A (p.Gln788=)
|
rs1778886118
|
|
|
NM_017802.4(DNAAF5):c.2370G>A (p.Leu790=)
|
rs556754436
|
|
|
NM_017802.4(DNAAF5):c.2371T>C (p.Tyr791His)
|
rs2128086438
|
|
|
NM_017802.4(DNAAF5):c.2377G>C (p.Glu793Gln)
|
rs2128086442
|
|
|
NM_017802.4(DNAAF5):c.2379G>T (p.Glu793Asp)
|
rs1487211423
|
|
|
NM_017802.4(DNAAF5):c.237G>A (p.Pro79=)
|
rs2128538246
|
|
|
NM_017802.4(DNAAF5):c.2384T>C (p.Leu795Pro)
|
rs397514561
|
|
|
NM_017802.4(DNAAF5):c.2385G>A (p.Leu795=)
|
rs112210659
|
|
|
NM_017802.4(DNAAF5):c.2403A>G (p.Pro801=)
|
|
|
|
NM_017802.4(DNAAF5):c.2409G>A (p.Arg803=)
|
|
|
|
NM_017802.4(DNAAF5):c.2423C>T (p.Ala808Val)
|
rs1778888401
|
|
|
NM_017802.4(DNAAF5):c.2431+19G>A
|
rs2484185571
|
|
|
NM_017802.4(DNAAF5):c.243G>A (p.Leu81=)
|
|
|
|
NM_017802.4(DNAAF5):c.246del (p.Arg83fs)
|
rs1781327256
|
|
|
NM_017802.4(DNAAF5):c.2479G>C (p.Glu827Gln)
|
rs1304156174
|
|
|
NM_017802.4(DNAAF5):c.2498A>G (p.His833Arg)
|
|
|
|
NM_017802.4(DNAAF5):c.249C>G (p.Arg83=)
|
|
|
|
NM_017802.4(DNAAF5):c.281C>G (p.Ala94Gly)
|
rs2484002575
|
|
|
NM_017802.4(DNAAF5):c.28G>C (p.Val10Leu)
|
rs577934097
|
|
|
NM_017802.4(DNAAF5):c.291G>C (p.Val97=)
|
|
|
|
NM_017802.4(DNAAF5):c.30G>A (p.Val10=)
|
rs878855037
|
|
|
NM_017802.4(DNAAF5):c.315C>T (p.Arg105=)
|
rs1583467957
|
|
|
NM_017802.4(DNAAF5):c.321_325dup (p.Arg109fs)
|
rs1376820756
|
|
|
NM_017802.4(DNAAF5):c.322_349dup (p.Leu117fs)
|
rs1781335411
|
|
|
NM_017802.4(DNAAF5):c.327G>T (p.Arg109=)
|
|
|
|
NM_017802.4(DNAAF5):c.328C>T (p.Pro110Ser)
|
rs2484003187
|
|
|
NM_017802.4(DNAAF5):c.330C>T (p.Pro110=)
|
|
|
|
NM_017802.4(DNAAF5):c.334G>A (p.Asp112Asn)
|
rs1060502833
|
|
|
NM_017802.4(DNAAF5):c.339C>T (p.Ala113=)
|
rs2484003341
|
|
|
NM_017802.4(DNAAF5):c.345G>A (p.Pro115=)
|
rs2484003438
|
|
|
NM_017802.4(DNAAF5):c.349_370del (p.Leu117fs)
|
rs912460897
|
|
|
NM_017802.4(DNAAF5):c.357C>T (p.Pro119=)
|
rs2484003532
|
|
|
NM_017802.4(DNAAF5):c.35C>A (p.Ala12Asp)
|
rs1781308664
|
|
|
NM_017802.4(DNAAF5):c.360G>C (p.Ala120=)
|
rs1562369494
|
|
|
NM_017802.4(DNAAF5):c.363_373del (p.Ala122fs)
|
rs1554248794
|
|
|
NM_017802.4(DNAAF5):c.367G>T (p.Ala123Ser)
|
rs1554248797
|
|
|
NM_017802.4(DNAAF5):c.369G>A (p.Ala123=)
|
|
|
|
NM_017802.4(DNAAF5):c.388C>T (p.Pro130Ser)
|
rs1469795759
|
|
|
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.410C>T (p.Ala137Val)
|
rs1379663317
|
|
|
NM_017802.4(DNAAF5):c.431C>A (p.Ala144Glu)
|
rs1781348425
|
|
|
NM_017802.4(DNAAF5):c.432_455dup (p.Ala152_Val153insLeuValGlnLeuLeuGlyLeuAla)
|
rs1781347474
|
|
|
NM_017802.4(DNAAF5):c.436G>C (p.Val146Leu)
|
|
|
|
NM_017802.4(DNAAF5):c.437T>C (p.Val146Ala)
|
rs1781349143
|
|
|
NM_017802.4(DNAAF5):c.449G>A (p.Gly150Asp)
|
|
|
|
NM_017802.4(DNAAF5):c.44C>T (p.Pro15Leu)
|
|
|
|
NM_017802.4(DNAAF5):c.454G>A (p.Ala152Thr)
|
rs981760144
|
|
|
NM_017802.4(DNAAF5):c.454G>T (p.Ala152Ser)
|
rs981760144
|
|
|
NM_017802.4(DNAAF5):c.464T>G (p.Leu155Arg)
|
rs2128538515
|
|
|
NM_017802.4(DNAAF5):c.465G>A (p.Leu155=)
|
rs1226282858
|
|
|
NM_017802.4(DNAAF5):c.482C>T (p.Ala161Val)
|
|
|
|
NM_017802.4(DNAAF5):c.489_498del (p.His163fs)
|
rs1554248887
|
|
|
NM_017802.4(DNAAF5):c.515G>T (p.Arg172Leu)
|
|
|
|
NM_017802.4(DNAAF5):c.517_521dup (p.Leu175fs)
|
rs2484006186
|
|
|
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.522C>T (p.Ser174=)
|
rs1781357926
|
|
|
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.528C>T (p.Leu176=)
|
rs1358007541
|
|
|
NM_017802.4(DNAAF5):c.533C>T (p.Pro178Leu)
|
rs1781359027
|
|
|
NM_017802.4(DNAAF5):c.538G>A (p.Ala180Thr)
|
rs1562369767
|
|
|
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.553_572del (p.Glu185fs)
|
|
|
|
NM_017802.4(DNAAF5):c.556A>G (p.Ser186Gly)
|
rs2484006839
|
|
|
NM_017802.4(DNAAF5):c.55G>T (p.Ala19Ser)
|
rs1164221686
|
|
|
NM_017802.4(DNAAF5):c.575C>G (p.Ala192Gly)
|
rs1781362341
|
|
|
NM_017802.4(DNAAF5):c.587C>T (p.Ala196Val)
|
rs1369424681
|
|
|
NM_017802.4(DNAAF5):c.595+14G>A
|
rs1781365835
|
|
|
NM_017802.4(DNAAF5):c.595+1G>C
|
|
|
|
NM_017802.4(DNAAF5):c.595+8C>T
|
rs1781364971
|
|
|
NM_017802.4(DNAAF5):c.595+9C>G
|
|
|
|
NM_017802.4(DNAAF5):c.596-17G>A
|
rs886038638
|
|
|
NM_017802.4(DNAAF5):c.596-19G>A
|
rs2484023083
|
|
|
NM_017802.4(DNAAF5):c.596-5C>T
|
rs748871246
|
|
|
NM_017802.4(DNAAF5):c.5C>A (p.Ala2Glu)
|
rs2128537985
|
|
|
NM_017802.4(DNAAF5):c.618G>A (p.Glu206=)
|
rs2484023408
|
|
|
NM_017802.4(DNAAF5):c.619T>C (p.Ser207Pro)
|
rs1781500803
|
|
|
NM_017802.4(DNAAF5):c.627C>A (p.Ile209=)
|
rs370516537
|
|
|
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.630G>T (p.Gly210=)
|
rs2484023456
|
|
|
NM_017802.4(DNAAF5):c.641A>G (p.Gln214Arg)
|
rs1060502834
|
|
|
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.685G>T (p.Glu229Ter)
|
|
|
|
NM_017802.4(DNAAF5):c.697G>T (p.Ala233Ser)
|
rs149139347
|
|
|
NM_017802.4(DNAAF5):c.69G>A (p.Glu23=)
|
rs540763017
|
|
|
NM_017802.4(DNAAF5):c.707A>T (p.His236Leu)
|
rs115058579
|
|
|
NM_017802.4(DNAAF5):c.707_717del (p.His236fs)
|
rs2484023860
|
|
|
NM_017802.4(DNAAF5):c.733G>A (p.Asp245Asn)
|
rs760523022
|
|
|
NM_017802.4(DNAAF5):c.743C>A (p.Ser248Tyr)
|
rs1429128654
|
|
|
NM_017802.4(DNAAF5):c.745C>T (p.His249Tyr)
|
rs1562372184
|
|
|
NM_017802.4(DNAAF5):c.745del (p.His249fs)
|
rs1307353210
|
|
|
NM_017802.4(DNAAF5):c.753T>G (p.Ala251=)
|
|
|
|
NM_017802.4(DNAAF5):c.757C>T (p.Arg253Ter)
|
rs1781507295
|
|
|
NM_017802.4(DNAAF5):c.763_766del (p.Phe255fs)
|
rs2484024185
|
|
|
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.780+10G>T
|
rs2484024295
|
|
|
NM_017802.4(DNAAF5):c.780+14C>T
|
rs746199296
|
|
|
NM_017802.4(DNAAF5):c.781-12T>C
|
|
|
|
NM_017802.4(DNAAF5):c.788G>A (p.Arg263Gln)
|
rs201059622
|
|
|
NM_017802.4(DNAAF5):c.788G>T (p.Arg263Leu)
|
rs201059622
|
|
|
NM_017802.4(DNAAF5):c.78G>A (p.Glu26=)
|
rs1583467478
|
|
|
NM_017802.4(DNAAF5):c.792G>T (p.Ala264=)
|
rs113952995
|
|
|
NM_017802.4(DNAAF5):c.800C>T (p.Ser267Phe)
|
rs1583482187
|
|
|
NM_017802.4(DNAAF5):c.804G>A (p.Val268=)
|
rs770987739
|
|
|
NM_017802.4(DNAAF5):c.808G>T (p.Gly270Cys)
|
rs1781883973
|
|
|
NM_017802.4(DNAAF5):c.810C>T (p.Gly270=)
|
rs762800769
|
|
|
NM_017802.4(DNAAF5):c.810_822del (p.Gly271fs)
|
rs2484056741
|
|
|
NM_017802.4(DNAAF5):c.819G>A (p.Leu273=)
|
rs2128072827
|
|
|
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.86G>A (p.Arg29His)
|
rs2483999815
|
|
|
NM_017802.4(DNAAF5):c.879C>A (p.Ser293Arg)
|
rs768561699
|
|
|
NM_017802.4(DNAAF5):c.889G>A (p.Glu297Lys)
|
rs753466171
|
|
|
NM_017802.4(DNAAF5):c.8C>T (p.Ala3Val)
|
|
|
|
NM_017802.4(DNAAF5):c.903C>G (p.Val301=)
|
rs2128072874
|
|
|
NM_017802.4(DNAAF5):c.905+4C>T
|
rs377210150
|
|
|
NM_017802.4(DNAAF5):c.905+5G>A
|
rs781625543
|
|
|
NM_017802.4(DNAAF5):c.906-14_906-11del
|
rs1444250614
|
|
|
NM_017802.4(DNAAF5):c.920G>C (p.Ser307Thr)
|
|
|
|
NM_017802.4(DNAAF5):c.926G>A (p.Trp309Ter)
|
rs1489856215
|
|
|
NM_017802.4(DNAAF5):c.938G>T (p.Gly313Val)
|
rs2484058959
|
|
|
NM_017802.4(DNAAF5):c.942G>T (p.Leu314=)
|
|
|
|
NM_017802.4(DNAAF5):c.948G>A (p.Trp316Ter)
|
rs201507046
|
|
|
NM_017802.4(DNAAF5):c.963G>A (p.Glu321=)
|
|
|
|
NM_017802.4(DNAAF5):c.987del (p.Phe330fs)
|
rs2484059424
|
|
|
NM_017802.4(DNAAF5):c.996T>C (p.Pro332=)
|
rs746745698
|
|
|
NM_017802.4(DNAAF5):c.99C>T (p.Arg33=)
|
rs2483999982
|
|
|
NM_017950.4(CCDC40):c.1014G>A (p.Leu338=)
|
rs766774588
|
|
|
NM_017950.4(CCDC40):c.102A>G (p.Pro34=)
|
rs1331405629
|
|
|
NM_017950.4(CCDC40):c.1032G>T (p.Leu344=)
|
|
|
|
NM_017950.4(CCDC40):c.1038G>A (p.Glu346=)
|
rs753690300
|
|
|
NM_017950.4(CCDC40):c.1048G>A (p.Asp350Asn)
|
rs771631875
|
|
|
NM_017950.4(CCDC40):c.1051C>G (p.Arg351Gly)
|
rs369698429
|
|
|
NM_017950.4(CCDC40):c.1052G>A (p.Arg351His)
|
|
|
|
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.1071C>T (p.Ser357=)
|
|
|
|
NM_017950.4(CCDC40):c.1083G>A (p.Gln361=)
|
rs1598488399
|
|
|
NM_017950.4(CCDC40):c.1085A>T (p.Lys362Met)
|
rs2143617296
|
|
|
NM_017950.4(CCDC40):c.10C>T (p.Pro4Ser)
|
|
|
|
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.1128C>T (p.Thr376=)
|
|
|
|
NM_017950.4(CCDC40):c.1136C>A (p.Ala379Asp)
|
rs976460197
|
|
|
NM_017950.4(CCDC40):c.1142A>G (p.Asn381Ser)
|
rs1290134661
|
|
|
NM_017950.4(CCDC40):c.1159+15C>T
|
rs1168164935
|
|
|
NM_017950.4(CCDC40):c.1159+3A>T
|
rs1185054167
|
|
|
NM_017950.4(CCDC40):c.1160-13C>T
|
rs2037808461
|
|
|
NM_017950.4(CCDC40):c.1160-15dup
|
rs767776335
|
|
|
NM_017950.4(CCDC40):c.1160-2A>C
|
rs2510295726
|
|
|
NM_017950.4(CCDC40):c.1160-3C>T
|
rs2143648368
|
|
|
NM_017950.4(CCDC40):c.1163C>A (p.Ala388Glu)
|
rs199948075
|
|
|
NM_017950.4(CCDC40):c.1163C>T (p.Ala388Val)
|
|
|
|
NM_017950.4(CCDC40):c.1181T>C (p.Met394Thr)
|
|
|
|
NM_017950.4(CCDC40):c.11C>T (p.Pro4Leu)
|
rs776947186
|
|
|
NM_017950.4(CCDC40):c.1212_1220del (p.Met404_Asn406del)
|
rs775672044
|
|
|
NM_017950.4(CCDC40):c.1225C>T (p.Gln409Ter)
|
rs1472033145
|
|
|
NM_017950.4(CCDC40):c.1233dup (p.Arg412fs)
|
rs2510295858
|
|
|
NM_017950.4(CCDC40):c.1249G>A (p.Val417Met)
|
rs535461092
|
|
|
NM_017950.4(CCDC40):c.1249G>T (p.Val417Leu)
|
rs535461092
|
|
|
NM_017950.4(CCDC40):c.1258C>G (p.Gln420Glu)
|
rs770957455
|
|
|
NM_017950.4(CCDC40):c.1259A>G (p.Gln420Arg)
|
rs1060501720
|
|
|
NM_017950.4(CCDC40):c.1263G>A (p.Val421=)
|
rs2510295916
|
|
|
NM_017950.4(CCDC40):c.1276G>T (p.Glu426Ter)
|
rs775299709
|
|
|
NM_017950.4(CCDC40):c.1280C>A (p.Thr427Lys)
|
rs370720427
|
|
|
NM_017950.4(CCDC40):c.1293G>A (p.Arg431=)
|
rs1286992930
|
|
|
NM_017950.4(CCDC40):c.1302C>G (p.Ile434Met)
|
rs375163840
|
|
|
NM_017950.4(CCDC40):c.1317+20C>A
|
|
|
|
NM_017950.4(CCDC40):c.1317+7T>C
|
|
|
|
NM_017950.4(CCDC40):c.1318-19T>C
|
rs2510296217
|
|
|
NM_017950.4(CCDC40):c.1345C>G (p.Arg449Gly)
|
rs387907093
|
|
|
NM_017950.4(CCDC40):c.1345C>T (p.Arg449Ter)
|
rs387907093
|
|
|
NM_017950.4(CCDC40):c.1354C>A (p.Gln452Lys)
|
rs760026148
|
|
|
NM_017950.4(CCDC40):c.1375C>T (p.Leu459=)
|
|
|
|
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.13G>A (p.Gly5Ser)
|
rs2510279398
|
|
|
NM_017950.4(CCDC40):c.1416del (p.Ile473fs)
|
rs764011276
|
|
|
NM_017950.4(CCDC40):c.1437T>C (p.Ser479=)
|
|
|
|
NM_017950.4(CCDC40):c.1440+17C>A
|
rs2510296495
|
|
|
NM_017950.4(CCDC40):c.1440+17C>T
|
rs2510296495
|
|
|
NM_017950.4(CCDC40):c.1441-13C>G
|
rs373383132
|
|
|
NM_017950.4(CCDC40):c.1467C>A (p.Ser489Arg)
|
rs200154414
|
|
|
NM_017950.4(CCDC40):c.1467C>T (p.Ser489=)
|
rs200154414
|
|
|
NM_017950.4(CCDC40):c.1472A>G (p.Glu491Gly)
|
|
|
|
NM_017950.4(CCDC40):c.147C>T (p.Ser49=)
|
rs1301657020
|
|
|
NM_017950.4(CCDC40):c.1485C>A (p.Ile495=)
|
rs771128827
|
|
|
NM_017950.4(CCDC40):c.1486A>T (p.Met496Leu)
|
rs2038020680
|
|
|
NM_017950.4(CCDC40):c.1488G>A (p.Met496Ile)
|
rs774462299
|
|
|
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>G (p.Asp510Glu)
|
rs368929374
|
|
|
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.1537C>T (p.His513Tyr)
|
rs2038023446
|
|
|
NM_017950.4(CCDC40):c.1561A>G (p.Arg521Gly)
|
rs2038024808
|
|
|
NM_017950.4(CCDC40):c.1563-19C>T
|
|
|
|
NM_017950.4(CCDC40):c.1563-5T>C
|
rs2143733765
|
|
|
NM_017950.4(CCDC40):c.1563-8T>G
|
|
|
|
NM_017950.4(CCDC40):c.1565G>A (p.Gly522Glu)
|
rs947035837
|
|
|
NM_017950.4(CCDC40):c.1575T>G (p.His525Gln)
|
rs757226965
|
|
|
NM_017950.4(CCDC40):c.1579del (p.Ala527fs)
|
rs2143733843
|
|
|
NM_017950.4(CCDC40):c.1595G>A (p.Gly532Asp)
|
|
|
|
NM_017950.4(CCDC40):c.1618T>C (p.Ser540Pro)
|
rs1598533116
|
|
|
NM_017950.4(CCDC40):c.1620del (p.Ile541fs)
|
rs878855041
|
|
|
NM_017950.4(CCDC40):c.1625T>A (p.Met542Lys)
|
rs1795338173
|
|
|
NM_017950.4(CCDC40):c.163del (p.Glu55fs)
|
rs2510283811
|
|
|
NM_017950.4(CCDC40):c.1687A>G (p.Thr563Ala)
|
rs780848862
|
|
|
NM_017950.4(CCDC40):c.1696C>T (p.Gln566Ter)
|
rs747620444
|
|
|
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.1741_1760del (p.Ser581fs)
|
rs1487064371
|
|
|
NM_017950.4(CCDC40):c.174C>A (p.Thr58=)
|
rs1206948472
|
|
|
NM_017950.4(CCDC40):c.175C>G (p.Gln59Glu)
|
rs2510283834
|
|
|
NM_017950.4(CCDC40):c.1766C>A (p.Thr589Asn)
|
|
|
|
NM_017950.4(CCDC40):c.1771C>G (p.Gln591Glu)
|
rs1268068598
|
|
|
NM_017950.4(CCDC40):c.1780G>C (p.Glu594Gln)
|
rs1314509837
|
|
|
NM_017950.4(CCDC40):c.1797G>C (p.Gln599His)
|
rs1243700649
|
|
|
NM_017950.4(CCDC40):c.1806+16C>T
|
|
|
|
NM_017950.4(CCDC40):c.1824G>T (p.Thr608=)
|
rs371383125
|
|
|
NM_017950.4(CCDC40):c.1844G>A (p.Arg615His)
|
|
|
|
NM_017950.4(CCDC40):c.1848A>G (p.Gln616=)
|
rs2510312196
|
|
|
NM_017950.4(CCDC40):c.1873A>G (p.Arg625Gly)
|
rs2038460577
|
|
|
NM_017950.4(CCDC40):c.1885G>C (p.Asp629His)
|
rs2038461062
|
|
|
NM_017950.4(CCDC40):c.1889_1890delinsTG (p.Ala630Val)
|
rs386799737
|
|
|
NM_017950.4(CCDC40):c.1924_1926del (p.Ser642del)
|
rs750295453
|
|
|
NM_017950.4(CCDC40):c.1949A>C (p.Asn650Thr)
|
rs201064110
|
|
|
NM_017950.4(CCDC40):c.1951C>T (p.Gln651Ter)
|
rs387907092
|
|
|
NM_017950.4(CCDC40):c.1968G>T (p.Leu656=)
|
rs2038463828
|
|
|
NM_017950.4(CCDC40):c.1989+16A>G
|
|
|
|
NM_017950.4(CCDC40):c.1989+1G>A
|
rs745993158
|
|
|
NM_017950.4(CCDC40):c.1989+20A>T
|
|
|
|
NM_017950.4(CCDC40):c.198G>T (p.Glu66Asp)
|
rs2510283879
|
|
|
NM_017950.4(CCDC40):c.206T>A (p.Val69Glu)
|
|
|
|
NM_017950.4(CCDC40):c.2079G>A (p.Lys693=)
|
|
|
|
NM_017950.4(CCDC40):c.207G>T (p.Val69=)
|
rs2289527
|
|
|
NM_017950.4(CCDC40):c.20C>T (p.Ala7Val)
|
|
|
|
NM_017950.4(CCDC40):c.2104G>T (p.Val702Leu)
|
rs748948064
|
|
|
NM_017950.4(CCDC40):c.2126T>C (p.Ile709Thr)
|
rs759104776
|
|
|
NM_017950.4(CCDC40):c.2169C>A (p.Ile723=)
|
rs200641382
|
|
|
NM_017950.4(CCDC40):c.2174G>A (p.Arg725Lys)
|
|
|
|
NM_017950.4(CCDC40):c.2183_2184del (p.Gly728fs)
|
rs751191119
|
|
|
NM_017950.4(CCDC40):c.2186T>A (p.Leu729His)
|
rs2038546674
|
|
|
NM_017950.4(CCDC40):c.2211G>T (p.Leu737=)
|
rs2510314618
|
|
|
NM_017950.4(CCDC40):c.2224T>C (p.Ser742Pro)
|
rs2038548825
|
|
|
NM_017950.4(CCDC40):c.2235+1G>T
|
rs1568709952
|
|
|
NM_017950.4(CCDC40):c.2236-2del
|
rs1336208372
|
|
|
NM_017950.4(CCDC40):c.2236-6G>A
|
rs1402665990
|
|
|
NM_017950.4(CCDC40):c.2239G>A (p.Glu747Lys)
|
rs2510315200
|
|
|
NM_017950.4(CCDC40):c.225A>G (p.Ala75=)
|
rs2510283922
|
|
|
NM_017950.4(CCDC40):c.2260C>T (p.Leu754Phe)
|
rs760873352
|
|
|
NM_017950.4(CCDC40):c.2289C>T (p.Ile763=)
|
rs532818706
|
|
|
NM_017950.4(CCDC40):c.2290G>A (p.Asp764Asn)
|
|
|
|
NM_017950.4(CCDC40):c.2295G>A (p.Glu765=)
|
|
|
|
NM_017950.4(CCDC40):c.2336G>T (p.Arg779Leu)
|
rs183809462
|
|
|
NM_017950.4(CCDC40):c.2349G>A (p.Glu783=)
|
|
|
|
NM_017950.4(CCDC40):c.2381A>G (p.Gln794Arg)
|
|
|
|
NM_017950.4(CCDC40):c.2395G>A (p.Asp799Asn)
|
rs757730799
|
|
|
NM_017950.4(CCDC40):c.2408del (p.Lys803fs)
|
rs2510315381
|
|
|
NM_017950.4(CCDC40):c.240A>G (p.Glu80=)
|
rs2143576891
|
|
|
NM_017950.4(CCDC40):c.2444T>C (p.Val815Ala)
|
|
|
|
NM_017950.4(CCDC40):c.2449+10G>A
|
|
|
|
NM_017950.4(CCDC40):c.2449+15G>A
|
rs2510315445
|
|
|
NM_017950.4(CCDC40):c.2449+20G>A
|
|
|
|
NM_017950.4(CCDC40):c.2450-1G>A
|
rs774081599
|
|
|
NM_017950.4(CCDC40):c.2450-4A>G
|
rs778209145
|
|
|
NM_017950.4(CCDC40):c.2457del (p.Ile819fs)
|
rs1277942930
|
|
|
NM_017950.4(CCDC40):c.2472G>A (p.Lys824=)
|
rs2510317069
|
|
|
NM_017950.4(CCDC40):c.2498dup (p.Met833fs)
|
rs2510317115
|
|
|
NM_017950.4(CCDC40):c.2499G>C (p.Met833Ile)
|
rs2038615301
|
|
|
NM_017950.4(CCDC40):c.2524A>C (p.Lys842Gln)
|
rs2038615740
|
|
|
NM_017950.4(CCDC40):c.2539A>T (p.Met847Leu)
|
rs376872623
|
|
|
NM_017950.4(CCDC40):c.2552G>A (p.Arg851Gln)
|
rs745599843
|
|
|
NM_017950.4(CCDC40):c.2562G>A (p.Ser854=)
|
rs760217617
|
|
|
NM_017950.4(CCDC40):c.2566G>C (p.Glu856Gln)
|
rs1000468581
|
|
|
NM_017950.4(CCDC40):c.2571G>A (p.Leu857=)
|
rs776234145
|
|
|
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.2597A>G (p.Asn866Ser)
|
rs2038617610
|
|
|
NM_017950.4(CCDC40):c.2610C>G (p.Arg870=)
|
rs1348606621
|
|
|
NM_017950.4(CCDC40):c.2614C>T (p.Leu872=)
|
rs1351266176
|
|
|
NM_017950.4(CCDC40):c.2619+17G>T
|
rs983342792
|
|
|
NM_017950.4(CCDC40):c.2619+18C>A
|
|
|
|
NM_017950.4(CCDC40):c.2619+8C>T
|
|
|
|
NM_017950.4(CCDC40):c.2620-14C>G
|
|
|
|
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.2647C>T (p.Gln883Ter)
|
rs755004291
|
|
|
NM_017950.4(CCDC40):c.2660dup (p.Asn887fs)
|
rs1567811487
|
|
|
NM_017950.4(CCDC40):c.2669G>A (p.Ser890Asn)
|
|
|
|
NM_017950.4(CCDC40):c.2669G>T (p.Ser890Ile)
|
rs748686060
|
|
|
NM_017950.4(CCDC40):c.2670C>T (p.Ser890=)
|
rs371516381
|
|
|
NM_017950.4(CCDC40):c.2671G>T (p.Glu891Ter)
|
rs773796940
|
|
|
NM_017950.4(CCDC40):c.267T>C (p.Ala89=)
|
rs1598475378
|
|
|
NM_017950.4(CCDC40):c.2711+1G>A
|
rs2143755133
|
|
|
NM_017950.4(CCDC40):c.2711+6T>A
|
|
|
|
NM_017950.4(CCDC40):c.2712-1G>A
|
rs370706991
|
|
|
NM_017950.4(CCDC40):c.2712-1G>T
|
rs370706991
|
|
|
NM_017950.4(CCDC40):c.2721T>G (p.Ile907Met)
|
rs2038663366
|
|
|
NM_017950.4(CCDC40):c.2727T>C (p.Leu909=)
|
rs1555593479
|
|
|
NM_017950.4(CCDC40):c.2731G>A (p.Glu911Lys)
|
rs993641369
|
|
|
NM_017950.4(CCDC40):c.2740del (p.Ile914fs)
|
rs1353073416
|
|
|
NM_017950.4(CCDC40):c.2740dup (p.Ile914fs)
|
|
|
|
NM_017950.4(CCDC40):c.2741T>G (p.Ile914Ser)
|
|
|
|
NM_017950.4(CCDC40):c.2751A>G (p.Ala917=)
|
|
|
|
NM_017950.4(CCDC40):c.2753_2754del (p.Lys918fs)
|
rs746285699
|
|
|
NM_017950.4(CCDC40):c.2761C>T (p.Arg921Cys)
|
rs1052358414
|
|
|
NM_017950.4(CCDC40):c.2786G>C (p.Gly929Ala)
|
rs1020665520
|
|
|
NM_017950.4(CCDC40):c.2792C>T (p.Thr931Met)
|
rs202141933
|
|
|
NM_017950.4(CCDC40):c.2801G>A (p.Arg934Gln)
|
rs143374313
|
|
|
NM_017950.4(CCDC40):c.2803G>A (p.Ala935Thr)
|
rs2510320220
|
|
|
NM_017950.4(CCDC40):c.281A>T (p.Glu94Val)
|
rs2143577082
|
|
|
NM_017950.4(CCDC40):c.2821C>T (p.His941Tyr)
|
rs2510320247
|
|
|
NM_017950.4(CCDC40):c.2832+19C>T
|
|
|
|
NM_017950.4(CCDC40):c.2832+462_2832+463insCAC
|
rs10693712
|
|
|
NM_017950.4(CCDC40):c.2832G>A (p.Lys944=)
|
rs2143759904
|
|
|
NM_017950.4(CCDC40):c.2835C>G (p.Val945=)
|
|
|
|
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.288C>T (p.Tyr96=)
|
rs2510283998
|
|
|
NM_017950.4(CCDC40):c.29+12C>G
|
rs577056774
|
|
|
NM_017950.4(CCDC40):c.29+1_29+13dup
|
rs771732758
|
|
|
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.2925C>G (p.Ala975=)
|
rs776232255
|
|
|
NM_017950.4(CCDC40):c.2929G>T (p.Gly977Trp)
|
rs2510324619
|
|
|
NM_017950.4(CCDC40):c.2931G>T (p.Gly977=)
|
rs771283795
|
|
|
NM_017950.4(CCDC40):c.2938A>G (p.Lys980Glu)
|
rs2510324625
|
|
|
NM_017950.4(CCDC40):c.2944dup (p.Asp982fs)
|
rs2510324631
|
|
|
NM_017950.4(CCDC40):c.2947A>G (p.Arg983Gly)
|
rs1486454255
|
|
|
NM_017950.4(CCDC40):c.2953G>T (p.Ala985Ser)
|
rs1260469681
|
|
|
NM_017950.4(CCDC40):c.2963G>A (p.Arg988His)
|
rs778921041
|
|
|
NM_017950.4(CCDC40):c.2963G>C (p.Arg988Pro)
|
|
|
|
NM_017950.4(CCDC40):c.2967C>G (p.Thr989=)
|
rs199575834
|
|
|
NM_017950.4(CCDC40):c.2973C>T (p.Phe991=)
|
|
|
|
NM_017950.4(CCDC40):c.2976C>A (p.His992Gln)
|
rs2038791503
|
|
|
NM_017950.4(CCDC40):c.2995C>A (p.Arg999Ser)
|
rs546342011
|
|
|
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.2T>G (p.Met1Arg)
|
rs2510279362
|
|
|
NM_017950.4(CCDC40):c.3004dup (p.Ile1002fs)
|
rs1278589861
|
|
|
NM_017950.4(CCDC40):c.300T>C (p.Thr100=)
|
|
|
|
NM_017950.4(CCDC40):c.3017G>A (p.Arg1006His)
|
rs761029623
|
|
|
NM_017950.4(CCDC40):c.3021+7A>G
|
|
|
|
NM_017950.4(CCDC40):c.3022-4C>G
|
rs1191307548
|
|
|
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.3038C>T (p.Thr1013Ile)
|
rs1257141883
|
|
|
NM_017950.4(CCDC40):c.3047T>C (p.Val1016Ala)
|
|
|
|
NM_017950.4(CCDC40):c.3061G>A (p.Glu1021Lys)
|
rs2510325996
|
|
|
NM_017950.4(CCDC40):c.3093A>C (p.Leu1031=)
|
rs931527656
|
|
|
NM_017950.4(CCDC40):c.3094G>C (p.Glu1032Gln)
|
rs2038828283
|
|
|
NM_017950.4(CCDC40):c.3100C>T (p.Gln1034Ter)
|
rs367614851
|
|
|
NM_017950.4(CCDC40):c.3109C>G (p.Leu1037Val)
|
rs886038640
|
|
|
NM_017950.4(CCDC40):c.3133G>A (p.Asp1045Asn)
|
rs755442488
|
|
|
NM_017950.4(CCDC40):c.3144G>C (p.Glu1048Asp)
|
|
|
|
NM_017950.4(CCDC40):c.3150C>A (p.Asp1050Glu)
|
rs1359351908
|
|
|
NM_017950.4(CCDC40):c.3157del (p.Arg1053fs)
|
rs1567818236
|
|
|
NM_017950.4(CCDC40):c.3158G>A (p.Arg1053Gln)
|
|
|
|
NM_017950.4(CCDC40):c.3159G>T (p.Arg1053=)
|
rs2510326084
|
|
|
NM_017950.4(CCDC40):c.3173A>C (p.Lys1058Thr)
|
rs2510326098
|
|
|
NM_017950.4(CCDC40):c.3181-20G>T
|
|
|
|
NM_017950.4(CCDC40):c.3181-2A>G
|
rs762664261
|
|
|
NM_017950.4(CCDC40):c.3181-4C>A
|
rs1211505052
|
|
|
NM_017950.4(CCDC40):c.3181-4C>G
|
rs1211505052
|
|
|
NM_017950.4(CCDC40):c.3193A>C (p.Ile1065Leu)
|
|
|
|
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.3219G>A (p.Lys1073=)
|
|
|
|
NM_017950.4(CCDC40):c.3224T>C (p.Leu1075Pro)
|
rs2510328737
|
|
|
NM_017950.4(CCDC40):c.3250G>C (p.Val1084Leu)
|
rs546314844
|
|
|
NM_017950.4(CCDC40):c.3255C>T (p.Phe1085=)
|
rs2510328820
|
|
|
NM_017950.4(CCDC40):c.3266C>A (p.Ser1089Tyr)
|
rs762447884
|
|
|
NM_017950.4(CCDC40):c.3277C>G (p.Leu1093Val)
|
rs1060501721
|
|
|
NM_017950.4(CCDC40):c.3284dup (p.Glu1096fs)
|
rs1567819753
|
|
|
NM_017950.4(CCDC40):c.3289C>T (p.Arg1097Cys)
|
rs769742464
|
|
|
NM_017950.4(CCDC40):c.3299T>A (p.Leu1100Gln)
|
|
|
|
NM_017950.4(CCDC40):c.3306G>A (p.Lys1102=)
|
|
|
|
NM_017950.4(CCDC40):c.3338G>A (p.Arg1113His)
|
rs368814379
|
|
|
NM_017950.4(CCDC40):c.3338G>T (p.Arg1113Leu)
|
rs368814379
|
|
|
NM_017950.4(CCDC40):c.3343C>A (p.Arg1115=)
|
rs1189907726
|
|
|
NM_017950.4(CCDC40):c.3343C>T (p.Arg1115Trp)
|
|
|
|
NM_017950.4(CCDC40):c.3349G>T (p.Glu1117Ter)
|
rs145595957
|
|
|
NM_017950.4(CCDC40):c.3350A>C (p.Glu1117Ala)
|
|
|
|
NM_017950.4(CCDC40):c.3354C>A (p.Tyr1118Ter)
|
rs374909386
|
|
|
NM_017950.4(CCDC40):c.3358C>T (p.Gln1120Ter)
|
rs2143789412
|
|
|
NM_017950.4(CCDC40):c.335C>A (p.Thr112Lys)
|
rs1229219183
|
|
|
NM_017950.4(CCDC40):c.3363C>A (p.Phe1121Leu)
|
rs367605498
|
|
|
NM_017950.4(CCDC40):c.3363C>T (p.Phe1121=)
|
rs367605498
|
|
|
NM_017950.4(CCDC40):c.336G>T (p.Thr112=)
|
rs539062213
|
|
|
NM_017950.4(CCDC40):c.3384C>T (p.Val1128=)
|
|
|
|
NM_017950.4(CCDC40):c.3408C>G (p.Leu1136=)
|
rs186591691
|
|
|
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.344C>T (p.Pro115Leu)
|
rs754194373
|
|
|
NM_017950.4(CCDC40):c.355C>A (p.Pro119Thr)
|
rs750628862
|
|
|
NM_017950.4(CCDC40):c.357T>C (p.Pro119=)
|
|
|
|
NM_017950.4(CCDC40):c.369G>A (p.Leu123=)
|
|
|
|
NM_017950.4(CCDC40):c.390T>C (p.Asp130=)
|
rs1198229584
|
|
|
NM_017950.4(CCDC40):c.390_391dup (p.Ser131fs)
|
rs2510284153
|
|
|
NM_017950.4(CCDC40):c.394_395del (p.Ser131_Val132insTer)
|
rs2143577665
|
|
|
NM_017950.4(CCDC40):c.397_422dup (p.Phe141fs)
|
rs2037236648
|
|
|
NM_017950.4(CCDC40):c.398G>C (p.Ser133Thr)
|
rs769499619
|
|
|
NM_017950.4(CCDC40):c.403G>A (p.Glu135Lys)
|
rs1411060210
|
|
|
NM_017950.4(CCDC40):c.406G>A (p.Ala136Thr)
|
|
|
|
NM_017950.4(CCDC40):c.409G>T (p.Gly137Cys)
|
rs2510284200
|
|
|
NM_017950.4(CCDC40):c.40G>A (p.Glu14Lys)
|
rs2143570150
|
|
|
NM_017950.4(CCDC40):c.424C>T (p.Gln142Ter)
|
rs1568667609
|
|
|
NM_017950.4(CCDC40):c.440G>C (p.Gly147Ala)
|
rs2510284247
|
|
|
NM_017950.4(CCDC40):c.462G>A (p.Arg154=)
|
rs2037239104
|
|
|
NM_017950.4(CCDC40):c.463del (p.Arg155fs)
|
rs2510284280
|
|
|
NM_017950.4(CCDC40):c.479A>G (p.Glu160Gly)
|
rs2037239982
|
|
|
NM_017950.4(CCDC40):c.48A>G (p.Gly16=)
|
rs2143570184
|
|
|
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.504G>T (p.Pro168=)
|
rs74000351
|
|
|
NM_017950.4(CCDC40):c.511C>A (p.Gln171Lys)
|
rs2143578223
|
|
|
NM_017950.4(CCDC40):c.518G>A (p.Gly173Asp)
|
|
|
|
NM_017950.4(CCDC40):c.528C>G (p.Thr176=)
|
|
|
|
NM_017950.4(CCDC40):c.534G>A (p.Gly178=)
|
rs2143578294
|
|
|
NM_017950.4(CCDC40):c.552+20G>C
|
|
|
|
NM_017950.4(CCDC40):c.552+6T>A
|
rs2037242845
|
|
|
NM_017950.4(CCDC40):c.564A>G (p.Thr188=)
|
rs2037448406
|
|
|
NM_017950.4(CCDC40):c.565G>A (p.Glu189Lys)
|
rs372456780
|
|
|
NM_017950.4(CCDC40):c.606C>G (p.His202Gln)
|
rs1405383901
|
|
|
NM_017950.4(CCDC40):c.613C>T (p.Arg205Trp)
|
rs753704549
|
|
|
NM_017950.4(CCDC40):c.635T>G (p.Ile212Ser)
|
rs2510288276
|
|
|
NM_017950.4(CCDC40):c.648C>A (p.Asp216Glu)
|
rs375350606
|
|
|
NM_017950.4(CCDC40):c.676+2_676+3dup
|
rs756160039
|
|
|
NM_017950.4(CCDC40):c.676+4C>A
|
rs2037454418
|
|
|
NM_017950.4(CCDC40):c.676+5C>A
|
rs776691453
|
|
|
NM_017950.4(CCDC40):c.676+9C>A
|
rs2510288328
|
|
|
NM_017950.4(CCDC40):c.677-16C>T
|
rs773069808
|
|
|
NM_017950.4(CCDC40):c.677-1G>T
|
rs2510289229
|
|
|
NM_017950.4(CCDC40):c.677-2A>G
|
rs752419274
|
|
|
NM_017950.4(CCDC40):c.677-3del
|
rs886038641
|
|
|
NM_017950.4(CCDC40):c.677-4C>A
|
rs2289530
|
|
|
NM_017950.4(CCDC40):c.687A>G (p.Pro229=)
|
|
|
|
NM_017950.4(CCDC40):c.687_696del (p.Gly230fs)
|
rs2037491178
|
|
|
NM_017950.4(CCDC40):c.690G>T (p.Gly230=)
|
rs750834095
|
|
|
NM_017950.4(CCDC40):c.691G>A (p.Val231Met)
|
rs2037491545
|
|
|
NM_017950.4(CCDC40):c.694C>T (p.Pro232Ser)
|
rs2510289266
|
|
|
NM_017950.4(CCDC40):c.712G>T (p.Glu238Ter)
|
rs1051138932
|
|
|
NM_017950.4(CCDC40):c.732C>T (p.Phe244=)
|
|
|
|
NM_017950.4(CCDC40):c.736_755dup (p.Ser252fs)
|
|
|
|
NM_017950.4(CCDC40):c.756C>T (p.Ser252=)
|
rs374154296
|
|
|
NM_017950.4(CCDC40):c.783_784del (p.Arg261fs)
|
rs757076408
|
|
|
NM_017950.4(CCDC40):c.795G>A (p.Glu265=)
|
|
|
|
NM_017950.4(CCDC40):c.811G>A (p.Ala271Thr)
|
|
|
|
NM_017950.4(CCDC40):c.832C>T (p.Leu278=)
|
rs548926615
|
|
|
NM_017950.4(CCDC40):c.855+12T>A
|
rs997652148
|
|
|
NM_017950.4(CCDC40):c.855+1G>A
|
rs1346603171
|
|
|
NM_017950.4(CCDC40):c.855+20_855+24del
|
rs2037498801
|
|
|
NM_017950.4(CCDC40):c.856-2A>G
|
|
|
|
NM_017950.4(CCDC40):c.856-9T>C
|
rs1193011376
|
|
|
NM_017950.4(CCDC40):c.856C>A (p.Pro286Thr)
|
rs1313722298
|
|
|
NM_017950.4(CCDC40):c.867A>G (p.Val289=)
|
rs1386295352
|
|
|
NM_017950.4(CCDC40):c.909C>T (p.Ile303=)
|
|
|
|
NM_017950.4(CCDC40):c.93+14T>C
|
rs1187178866
|
|
|
NM_017950.4(CCDC40):c.93+15G>A
|
rs1255664480
|
|
|
NM_017950.4(CCDC40):c.93+2T>C
|
rs2037179047
|
|
|
NM_017950.4(CCDC40):c.93+4A>G
|
rs2510282415
|
|
|
NM_017950.4(CCDC40):c.931C>A (p.Gln311Lys)
|
rs1555891851
|
|
|
NM_017950.4(CCDC40):c.939+13C>G
|
rs780837572
|
|
|
NM_017950.4(CCDC40):c.939+18C>T
|
|
|
|
NM_017950.4(CCDC40):c.94-10A>G
|
|
|
|
NM_017950.4(CCDC40):c.94-12A>G
|
rs2510283686
|
|
|
NM_017950.4(CCDC40):c.940-1G>C
|
rs2037540861
|
|
|
NM_017950.4(CCDC40):c.940-6G>A
|
|
|
|
NM_017950.4(CCDC40):c.950C>G (p.Thr317Ser)
|
rs751751403
|
|
|
NM_017950.4(CCDC40):c.970C>T (p.Arg324Trp)
|
rs777362493
|
|
|
NM_017950.4(CCDC40):c.985G>T (p.Val329Leu)
|
rs745445950
|
|
|
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>G (p.Leu709Val)
|
rs1379776041
|
|
|
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.2495+1G>A
|
rs879253744
|
|
|
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.2531G>C (p.Trp844Ser)
|
rs1843702025
|
|
|
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.324dup (p.Arg109fs)
|
rs780697353
|
|
|
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.*182del
|
rs879075266
|
|
|
NM_018139.3(DNAAF2):c.1030G>C (p.Val344Leu)
|
rs769244195
|
|
|
NM_018139.3(DNAAF2):c.1052C>T (p.Pro351Leu)
|
rs1264391562
|
|
|
NM_018139.3(DNAAF2):c.1053G>A (p.Pro351=)
|
rs780614468
|
|
|
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.1065G>C (p.Arg355=)
|
|
|
|
NM_018139.3(DNAAF2):c.1066G>A (p.Glu356Lys)
|
rs577991424
|
|
|
NM_018139.3(DNAAF2):c.1069_1102dup (p.Glu368fs)
|
rs2502768696
|
|
|
NM_018139.3(DNAAF2):c.1076TCGCCG[3] (p.359VA[3])
|
rs962923283
|
|
|
NM_018139.3(DNAAF2):c.1083CGC[3] (p.Ala365del)
|
rs745419780
|
|
|
NM_018139.3(DNAAF2):c.1083CGC[6] (p.Ala364_Ala365dup)
|
rs745419780
|
|
|
NM_018139.3(DNAAF2):c.1110G>C (p.Ala370=)
|
|
|
|
NM_018139.3(DNAAF2):c.1119C>T (p.Ser373=)
|
rs1227922342
|
|
|
NM_018139.3(DNAAF2):c.1131C>T (p.Gly377=)
|
rs1883250866
|
|
|
NM_018139.3(DNAAF2):c.1155G>A (p.Glu385=)
|
|
|
|
NM_018139.3(DNAAF2):c.1156_1159dup (p.Glu387fs)
|
rs902156961
|
|
|
NM_018139.3(DNAAF2):c.1159G>T (p.Glu387Ter)
|
rs1439733262
|
|
|
NM_018139.3(DNAAF2):c.1160A>G (p.Glu387Gly)
|
|
|
|
NM_018139.3(DNAAF2):c.1166G>A (p.Gly389Glu)
|
rs1261094239
|
|
|
NM_018139.3(DNAAF2):c.1166dup (p.Pro390fs)
|
rs2502768385
|
|
|
NM_018139.3(DNAAF2):c.1176G>A (p.Arg392=)
|
rs773034362
|
|
|
NM_018139.3(DNAAF2):c.1191C>G (p.Asp397Glu)
|
rs1404363594
|
|
|
NM_018139.3(DNAAF2):c.1194A>C (p.Gly398=)
|
rs1883246355
|
|
|
NM_018139.3(DNAAF2):c.1197C>T (p.Gly399=)
|
rs746701668
|
|
|
NM_018139.3(DNAAF2):c.1201G>A (p.Asp401Asn)
|
rs1309376977
|
|
|
NM_018139.3(DNAAF2):c.1203dup (p.Thr402fs)
|
rs1594608287
|
|
|
NM_018139.3(DNAAF2):c.1208G>A (p.Cys403Tyr)
|
rs2502768178
|
|
|
NM_018139.3(DNAAF2):c.1209C>G (p.Cys403Trp)
|
|
|
|
NM_018139.3(DNAAF2):c.1218G>A (p.Gly406=)
|
rs1237792491
|
|
|
NM_018139.3(DNAAF2):c.1230C>T (p.Ser410=)
|
rs1362062295
|
|
|
NM_018139.3(DNAAF2):c.1239C>T (p.Thr413=)
|
rs2502768066
|
|
|
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.1253C>G (p.Pro418Arg)
|
rs886084919
|
|
|
NM_018139.3(DNAAF2):c.1253C>T (p.Pro418Leu)
|
rs886084919
|
|
|
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.1300A>T (p.Lys434Ter)
|
rs2139581674
|
|
|
NM_018139.3(DNAAF2):c.1309G>T (p.Glu437Ter)
|
rs1185151033
|
|
|
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.1371A>C (p.Gly457=)
|
|
|
|
NM_018139.3(DNAAF2):c.1385C>G (p.Pro462Arg)
|
rs757527838
|
|
|
NM_018139.3(DNAAF2):c.1398C>T (p.Gly466=)
|
rs2502767541
|
|
|
NM_018139.3(DNAAF2):c.1400C>T (p.Ser467Phe)
|
rs562335055
|
|
|
NM_018139.3(DNAAF2):c.1416C>T (p.Ser472=)
|
rs1420073386
|
|
|
NM_018139.3(DNAAF2):c.1419G>C (p.Arg473=)
|
|
|
|
NM_018139.3(DNAAF2):c.1433dup (p.Ser479fs)
|
rs1555327928
|
|
|
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.1443G>T (p.Ala481=)
|
rs1883232234
|
|
|
NM_018139.3(DNAAF2):c.1445G>C (p.Gly482Ala)
|
rs1427910863
|
|
|
NM_018139.3(DNAAF2):c.144C>T (p.Asn48=)
|
rs116185352
|
|
|
NM_018139.3(DNAAF2):c.1485_1486delinsTC (p.Glu496Gln)
|
|
|
|
NM_018139.3(DNAAF2):c.1486G>C (p.Glu496Gln)
|
|
|
|
NM_018139.3(DNAAF2):c.14C>T (p.Ala5Val)
|
rs1393464338
|
|
|
NM_018139.3(DNAAF2):c.1506C>T (p.Gly502=)
|
rs1024397176
|
|
|
NM_018139.3(DNAAF2):c.1515del (p.Ser506fs)
|
rs1426753271
|
|
|
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.1554G>A (p.Gly518=)
|
rs2139580984
|
|
|
NM_018139.3(DNAAF2):c.1555del (p.Glu519fs)
|
rs1555327917
|
|
|
NM_018139.3(DNAAF2):c.1576C>T (p.Leu526=)
|
rs2139580929
|
|
|
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.1586A>G (p.Gln529Arg)
|
|
|
|
NM_018139.3(DNAAF2):c.1588G>A (p.Asp530Asn)
|
rs146272677
|
|
|
NM_018139.3(DNAAF2):c.1596A>C (p.Glu532Asp)
|
|
|
|
NM_018139.3(DNAAF2):c.1596A>G (p.Glu532=)
|
rs374369407
|
|
|
NM_018139.3(DNAAF2):c.1597A>G (p.Thr533Ala)
|
rs547924178
|
|
|
NM_018139.3(DNAAF2):c.159G>A (p.Glu53=)
|
rs2139584413
|
|
|
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.1634C>G (p.Pro545Arg)
|
rs761139069
|
|
|
NM_018139.3(DNAAF2):c.1634C>T (p.Pro545Leu)
|
rs761139069
|
|
|
NM_018139.3(DNAAF2):c.1635G>T (p.Pro545=)
|
rs1406371217
|
|
|
NM_018139.3(DNAAF2):c.1638_1639del (p.Leu548fs)
|
rs2502766502
|
|
|
NM_018139.3(DNAAF2):c.163G>A (p.Glu55Lys)
|
rs2139584403
|
|
|
NM_018139.3(DNAAF2):c.1643T>G (p.Leu548Arg)
|
rs1883221618
|
|
|
NM_018139.3(DNAAF2):c.1652A>T (p.Asp551Val)
|
rs2502766432
|
|
|
NM_018139.3(DNAAF2):c.166A>G (p.Ile56Val)
|
rs1566513759
|
|
|
NM_018139.3(DNAAF2):c.1685C>T (p.Ser562Phe)
|
|
|
|
NM_018139.3(DNAAF2):c.1689A>C (p.Ala563=)
|
rs756813182
|
|
|
NM_018139.3(DNAAF2):c.1692A>T (p.Gln564His)
|
rs1389375533
|
|
|
NM_018139.3(DNAAF2):c.169A>G (p.Thr57Ala)
|
rs1021747866
|
|
|
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.178G>A (p.Glu60Lys)
|
rs1180545101
|
|
|
NM_018139.3(DNAAF2):c.1806A>G (p.Pro602=)
|
rs1417411909
|
|
|
NM_018139.3(DNAAF2):c.1809G>A (p.Glu603=)
|
|
|
|
NM_018139.3(DNAAF2):c.1811G>A (p.Ser604Asn)
|
rs2502765912
|
|
|
NM_018139.3(DNAAF2):c.1812C>T (p.Ser604=)
|
rs1405675478
|
|
|
NM_018139.3(DNAAF2):c.1813C>T (p.His605Tyr)
|
rs964761675
|
|
|
NM_018139.3(DNAAF2):c.181C>G (p.Arg61Gly)
|
rs1253214739
|
|
|
NM_018139.3(DNAAF2):c.1830G>A (p.Glu610=)
|
|
|
|
NM_018139.3(DNAAF2):c.1853A>C (p.Asp618Ala)
|
|
|
|
NM_018139.3(DNAAF2):c.1861G>T (p.Glu621Ter)
|
|
|
|
NM_018139.3(DNAAF2):c.1864-13C>G
|
rs1198098002
|
|
|
NM_018139.3(DNAAF2):c.1864-9_1864-8del
|
rs755892796
|
|
|
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.1895_1898del (p.Asn632fs)
|
rs1220968996
|
|
|
NM_018139.3(DNAAF2):c.1906G>T (p.Glu636Ter)
|
rs2502756510
|
|
|
NM_018139.3(DNAAF2):c.192G>A (p.Gly64=)
|
rs1226399845
|
|
|
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.1944C>G (p.Ser648=)
|
rs1010240843
|
|
|
NM_018139.3(DNAAF2):c.1954C>G (p.Pro652Ala)
|
rs1883055893
|
|
|
NM_018139.3(DNAAF2):c.1960A>G (p.Ile654Val)
|
rs1594603805
|
|
|
NM_018139.3(DNAAF2):c.1971T>C (p.Leu657=)
|
|
|
|
NM_018139.3(DNAAF2):c.2001T>C (p.Asn667=)
|
rs1201785867
|
|
|
NM_018139.3(DNAAF2):c.2008-12C>G
|
rs946457685
|
|
|
NM_018139.3(DNAAF2):c.2008-19G>A
|
rs1882998393
|
|
|
NM_018139.3(DNAAF2):c.2008-5C>T
|
|
|
|
NM_018139.3(DNAAF2):c.2027C>G (p.Ser676Cys)
|
|
|
|
NM_018139.3(DNAAF2):c.2027_2028del (p.Asn675_Ser676insTer)
|
rs752488141
|
|
|
NM_018139.3(DNAAF2):c.2035C>A (p.Leu679Ile)
|
|
|
|
NM_018139.3(DNAAF2):c.2035C>T (p.Leu679=)
|
rs953564439
|
|
|
NM_018139.3(DNAAF2):c.2046G>A (p.Lys682=)
|
rs2502753123
|
|
|
NM_018139.3(DNAAF2):c.2069G>T (p.Ser690Ile)
|
rs2502753069
|
|
|
NM_018139.3(DNAAF2):c.2102G>T (p.Cys701Phe)
|
rs1337764174
|
|
|
NM_018139.3(DNAAF2):c.2108C>A (p.Thr703Asn)
|
rs2502752935
|
|
|
NM_018139.3(DNAAF2):c.2125G>T (p.Asp709Tyr)
|
rs2502752859
|
|
|
NM_018139.3(DNAAF2):c.212A>T (p.His71Leu)
|
|
|
|
NM_018139.3(DNAAF2):c.2156T>C (p.Ile719Thr)
|
|
|
|
NM_018139.3(DNAAF2):c.2178A>G (p.Thr726=)
|
rs779403171
|
|
|
NM_018139.3(DNAAF2):c.2203G>T (p.Val735Phe)
|
|
|
|
NM_018139.3(DNAAF2):c.2207C>T (p.Ser736Phe)
|
rs2502752583
|
|
|
NM_018139.3(DNAAF2):c.226_232dup (p.Leu78fs)
|
rs1555328130
|
|
|
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.2307_2311del (p.Asn769fs)
|
rs759443393
|
|
|
NM_018139.3(DNAAF2):c.2324T>A (p.Ile775Lys)
|
rs1363447010
|
|
|
NM_018139.3(DNAAF2):c.2338G>A (p.Glu780Lys)
|
rs778899267
|
|
|
NM_018139.3(DNAAF2):c.2338G>C (p.Glu780Gln)
|
rs778899267
|
|
|
NM_018139.3(DNAAF2):c.233dup (p.Arg79fs)
|
rs1210988336
|
|
|
NM_018139.3(DNAAF2):c.237C>T (p.Arg79=)
|
rs1266516349
|
|
|
NM_018139.3(DNAAF2):c.2382G>A (p.Thr794=)
|
|
|
|
NM_018139.3(DNAAF2):c.238A>C (p.Thr80Pro)
|
rs1883300171
|
|
|
NM_018139.3(DNAAF2):c.2393T>C (p.Ile798Thr)
|
rs1882983539
|
|
|
NM_018139.3(DNAAF2):c.2404G>A (p.Asp802Asn)
|
rs1235666808
|
|
|
NM_018139.3(DNAAF2):c.2416G>T (p.Glu806Ter)
|
rs1882982458
|
|
|
NM_018139.3(DNAAF2):c.2446G>A (p.Val816Ile)
|
rs1566507420
|
|
|
NM_018139.3(DNAAF2):c.2460T>C (p.His820=)
|
rs909774302
|
|
|
NM_018139.3(DNAAF2):c.2489del (p.Asn830fs)
|
rs2502751623
|
|
|
NM_018139.3(DNAAF2):c.2499A>G (p.Leu833=)
|
rs1488459981
|
|
|
NM_018139.3(DNAAF2):c.250G>C (p.Gly84Arg)
|
rs566365192
|
|
|
NM_018139.3(DNAAF2):c.260G>A (p.Arg87His)
|
rs1555328120
|
|
|
NM_018139.3(DNAAF2):c.278G>T (p.Cys93Phe)
|
rs904534333
|
|
|
NM_018139.3(DNAAF2):c.295G>A (p.Gly99Ser)
|
rs1182493444
|
|
|
NM_018139.3(DNAAF2):c.300G>A (p.Ala100=)
|
rs1566513551
|
|
|
NM_018139.3(DNAAF2):c.306C>A (p.Ser102Arg)
|
rs1555328112
|
|
|
NM_018139.3(DNAAF2):c.306C>T (p.Ser102=)
|
rs1555328112
|
|
|
NM_018139.3(DNAAF2):c.321C>G (p.Ser107=)
|
rs944251462
|
|
|
NM_018139.3(DNAAF2):c.327C>G (p.Gly109=)
|
rs914228343
|
|
|
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.343C>T (p.Pro115Ser)
|
rs931555570
|
|
|
NM_018139.3(DNAAF2):c.363G>C (p.Leu121=)
|
rs533083141
|
|
|
NM_018139.3(DNAAF2):c.368A>G (p.Tyr123Cys)
|
rs1594609686
|
|
|
NM_018139.3(DNAAF2):c.370_393del (p.Ser124_Tyr131del)
|
rs2139583907
|
|
|
NM_018139.3(DNAAF2):c.378G>A (p.Ala126=)
|
|
|
|
NM_018139.3(DNAAF2):c.384C>T (p.Gly128=)
|
rs200484042
|
|
|
NM_018139.3(DNAAF2):c.386G>A (p.Arg129His)
|
rs1294565597
|
|
|
NM_018139.3(DNAAF2):c.388G>T (p.Glu130Ter)
|
rs752795172
|
|
|
NM_018139.3(DNAAF2):c.396G>A (p.Ala132=)
|
rs1594609626
|
|
|
NM_018139.3(DNAAF2):c.396G>C (p.Ala132=)
|
rs1594609626
|
|
|
NM_018139.3(DNAAF2):c.397G>C (p.Gly133Arg)
|
rs1369296094
|
|
|
NM_018139.3(DNAAF2):c.399dup (p.Arg134fs)
|
|
|
|
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.418A>G (p.Met140Val)
|
rs572101185
|
|
|
NM_018139.3(DNAAF2):c.419T>A (p.Met140Lys)
|
|
|
|
NM_018139.3(DNAAF2):c.421G>A (p.Val141Ile)
|
rs2139583849
|
|
|
NM_018139.3(DNAAF2):c.427G>C (p.Asp143His)
|
rs2502771469
|
|
|
NM_018139.3(DNAAF2):c.428A>T (p.Asp143Val)
|
rs1883290227
|
|
|
NM_018139.3(DNAAF2):c.436T>G (p.Phe146Val)
|
rs1207595112
|
|
|
NM_018139.3(DNAAF2):c.443C>G (p.Pro148Arg)
|
|
|
|
NM_018139.3(DNAAF2):c.455C>A (p.Ala152Glu)
|
rs1594609551
|
|
|
NM_018139.3(DNAAF2):c.461C>G (p.Ala154Gly)
|
|
|
|
NM_018139.3(DNAAF2):c.465G>A (p.Arg155=)
|
rs1410449245
|
|
|
NM_018139.3(DNAAF2):c.476dup (p.Phe160fs)
|
rs767450283
|
|
|
NM_018139.3(DNAAF2):c.479T>C (p.Phe160Ser)
|
rs2502771249
|
|
|
NM_018139.3(DNAAF2):c.484C>T (p.Gln162Ter)
|
rs1555328087
|
|
|
NM_018139.3(DNAAF2):c.501G>A (p.Thr167=)
|
rs1179653801
|
|
|
NM_018139.3(DNAAF2):c.505C>T (p.Leu169=)
|
rs1256254153
|
|
|
NM_018139.3(DNAAF2):c.506T>C (p.Leu169Pro)
|
rs1208445913
|
|
|
NM_018139.3(DNAAF2):c.510G>T (p.Glu170Asp)
|
rs2502771120
|
|
|
NM_018139.3(DNAAF2):c.532G>T (p.Val178Leu)
|
rs767502889
|
|
|
NM_018139.3(DNAAF2):c.550A>G (p.Asn184Asp)
|
|
|
|
NM_018139.3(DNAAF2):c.580G>C (p.Gly194Arg)
|
rs557931447
|
|
|
NM_018139.3(DNAAF2):c.582G>A (p.Gly194=)
|
rs532979117
|
|
|
NM_018139.3(DNAAF2):c.588A>T (p.Pro196=)
|
rs202180286
|
|
|
NM_018139.3(DNAAF2):c.593C>T (p.Ala198Val)
|
rs1265820367
|
|
|
NM_018139.3(DNAAF2):c.59T>A (p.Val20Asp)
|
rs1566513874
|
|
|
NM_018139.3(DNAAF2):c.600G>A (p.Val200=)
|
rs750700782
|
|
|
NM_018139.3(DNAAF2):c.609G>T (p.Thr203=)
|
rs1446340789
|
|
|
NM_018139.3(DNAAF2):c.618C>A (p.Pro206=)
|
rs759493468
|
|
|
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.646G>T (p.Glu216Ter)
|
|
|
|
NM_018139.3(DNAAF2):c.650C>T (p.Pro217Leu)
|
rs1594609205
|
|
|
NM_018139.3(DNAAF2):c.650del (p.Pro217fs)
|
rs1566513076
|
|
|
NM_018139.3(DNAAF2):c.651G>C (p.Pro217=)
|
rs747603885
|
|
|
NM_018139.3(DNAAF2):c.65G>A (p.Arg22Gln)
|
rs755978191
|
|
|
NM_018139.3(DNAAF2):c.660T>C (p.Pro220=)
|
rs2139583283
|
|
|
NM_018139.3(DNAAF2):c.662T>G (p.Leu221Arg)
|
|
|
|
NM_018139.3(DNAAF2):c.665C>A (p.Pro222Gln)
|
|
|
|
NM_018139.3(DNAAF2):c.666G>A (p.Pro222=)
|
|
|
|
NM_018139.3(DNAAF2):c.668A>G (p.Asp223Gly)
|
rs1371877589
|
|
|
NM_018139.3(DNAAF2):c.673C>T (p.Pro225Ser)
|
rs752558578
|
|
|
NM_018139.3(DNAAF2):c.675C>T (p.Pro225=)
|
rs781181118
|
|
|
NM_018139.3(DNAAF2):c.676T>G (p.Tyr226Asp)
|
rs566190340
|
|
|
NM_018139.3(DNAAF2):c.678C>T (p.Tyr226=)
|
rs892853177
|
|
|
NM_018139.3(DNAAF2):c.683A>G (p.Tyr228Cys)
|
rs376557810
|
|
|
NM_018139.3(DNAAF2):c.688T>A (p.Tyr230Asn)
|
|
|
|
NM_018139.3(DNAAF2):c.696_702del (p.Ala233fs)
|
rs1555328047
|
|
|
NM_018139.3(DNAAF2):c.698C>T (p.Ala233Val)
|
|
|
|
NM_018139.3(DNAAF2):c.705G>A (p.Gly235=)
|
rs2502770381
|
|
|
NM_018139.3(DNAAF2):c.71C>T (p.Thr24Ile)
|
rs1298518158
|
|
|
NM_018139.3(DNAAF2):c.727G>A (p.Glu243Lys)
|
rs727504815
|
|
|
NM_018139.3(DNAAF2):c.727G>T (p.Glu243Ter)
|
rs727504815
|
|
|
NM_018139.3(DNAAF2):c.727_754del (p.Glu243fs)
|
rs770045708
|
|
|
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.754G>T (p.Glu252Ter)
|
rs758230960
|
|
|
NM_018139.3(DNAAF2):c.78C>G (p.Ala26=)
|
rs7156297
|
|
|
NM_018139.3(DNAAF2):c.799G>T (p.Asp267Tyr)
|
|
|
|
NM_018139.3(DNAAF2):c.804C>G (p.Tyr268Ter)
|
rs1555328022
|
|
|
NM_018139.3(DNAAF2):c.807C>G (p.Arg269=)
|
|
|
|
NM_018139.3(DNAAF2):c.810C>T (p.Cys270=)
|
rs2502769940
|
|
|
NM_018139.3(DNAAF2):c.820_821del (p.Ala275fs)
|
rs1267718786
|
|
|
NM_018139.3(DNAAF2):c.828G>C (p.Pro276=)
|
|
|
|
NM_018139.3(DNAAF2):c.830G>A (p.Ser277Asn)
|
rs758192511
|
|
|
NM_018139.3(DNAAF2):c.838C>T (p.Pro280Ser)
|
rs2139582764
|
|
|
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.882G>C (p.Ser294=)
|
rs979587577
|
|
|
NM_018139.3(DNAAF2):c.895G>C (p.Ala299Pro)
|
rs748369356
|
|
|
NM_018139.3(DNAAF2):c.905dup (p.Thr303fs)
|
|
|
|
NM_018139.3(DNAAF2):c.923G>T (p.Cys308Phe)
|
|
|
|
NM_018139.3(DNAAF2):c.953del (p.Leu318fs)
|
rs780453315
|
|
|
NM_018139.3(DNAAF2):c.975A>C (p.Pro325=)
|
|
|
|
NM_018139.3(DNAAF2):c.976G>A (p.Val326Met)
|
|
|
|
NM_018139.3(DNAAF2):c.97C>T (p.Arg33Trp)
|
|
|
|
NM_018139.3(DNAAF2):c.986G>A (p.Gly329Asp)
|
rs774079854
|
|
|
NM_021147.5(CCNO):c.111C>T (p.Leu37=)
|
rs1745661763
|
|
|
NM_021147.5(CCNO):c.120G>A (p.Lys40=)
|
|
|
|
NM_021147.5(CCNO):c.132T>G (p.His44Gln)
|
rs1745660550
|
|
|
NM_021147.5(CCNO):c.135C>T (p.Pro45=)
|
rs2478555919
|
|
|
NM_021147.5(CCNO):c.153C>G (p.Leu51=)
|
rs2478555755
|
|
|
NM_021147.5(CCNO):c.156G>T (p.Pro52=)
|
rs1359521554
|
|
|
NM_021147.5(CCNO):c.160G>A (p.Asp54Asn)
|
rs1745658924
|
|
|
NM_021147.5(CCNO):c.165C>T (p.Ser55=)
|
|
|
|
NM_021147.5(CCNO):c.165del (p.Gly56fs)
|
rs1561121987
|
|
|
NM_021147.5(CCNO):c.185A>G (p.Glu62Gly)
|
rs1745657575
|
|
|
NM_021147.5(CCNO):c.18C>A (p.Pro6=)
|
rs1372192055
|
|
|
NM_021147.5(CCNO):c.192del (p.Ser65fs)
|
rs752106293
|
|
|
NM_021147.5(CCNO):c.196T>C (p.Ser66Pro)
|
rs1488154964
|
|
|
NM_021147.5(CCNO):c.198C>T (p.Ser66=)
|
|
|
|
NM_021147.5(CCNO):c.203C>A (p.Ser68Ter)
|
|
|
|
NM_021147.5(CCNO):c.219C>T (p.Ser73=)
|
|
|
|
NM_021147.5(CCNO):c.247C>T (p.Leu83=)
|
rs1745653580
|
|
|
NM_021147.5(CCNO):c.248_252dup (p.Gly85fs)
|
rs587777498
|
|
|
NM_021147.5(CCNO):c.248_262dup (p.Leu83_Ala87dup)
|
rs1554020078
|
|
|
NM_021147.5(CCNO):c.248dup (p.Pro84fs)
|
|
|
|
NM_021147.5(CCNO):c.258_262dup (p.Gln88fs)
|
rs587777499
|
|
|
NM_021147.5(CCNO):c.259_268dup (p.Val90fs)
|
rs1398588555
|
|
|
NM_021147.5(CCNO):c.263_267dup (p.Val90fs)
|
rs587777502
|
|
|
NM_021147.5(CCNO):c.272C>G (p.Ala91Gly)
|
|
|
|
NM_021147.5(CCNO):c.285A>G (p.Leu95=)
|
rs2478554598
|
|
|
NM_021147.5(CCNO):c.302del (p.Tyr101fs)
|
rs1580412021
|
|
|
NM_021147.5(CCNO):c.315C>T (p.Cys105=)
|
|
|
|
NM_021147.5(CCNO):c.327C>A (p.Arg109=)
|
rs1358874292
|
|
|
NM_021147.5(CCNO):c.327dup (p.Lys110fs)
|
rs1745647423
|
|
|
NM_021147.5(CCNO):c.333G>T (p.Ala111=)
|
rs191035273
|
|
|
NM_021147.5(CCNO):c.336G>A (p.Gln112=)
|
|
|
|
NM_021147.5(CCNO):c.342C>T (p.Ser114=)
|
rs2111721591
|
|
|
NM_021147.5(CCNO):c.351C>T (p.His117=)
|
|
|
|
NM_021147.5(CCNO):c.36C>A (p.Pro12=)
|
rs777965356
|
|
|
NM_021147.5(CCNO):c.377C>T (p.Pro126Leu)
|
rs1554020059
|
|
|
NM_021147.5(CCNO):c.381+8G>A
|
rs757379260
|
|
|
NM_021147.5(CCNO):c.382-12C>G
|
|
|
|
NM_021147.5(CCNO):c.382-14C>A
|
rs72749883
|
|
|
NM_021147.5(CCNO):c.382-14C>T
|
rs72749883
|
|
|
NM_021147.5(CCNO):c.382-15C>G
|
rs368489305
|
|
|
NM_021147.5(CCNO):c.382-17C>T
|
|
|
|
NM_021147.5(CCNO):c.382-19C>G
|
rs334892
|
|
|
NM_021147.5(CCNO):c.382-1G>T
|
rs1580411207
|
|
|
NM_021147.5(CCNO):c.382-4G>A
|
rs2111718851
|
|
|
NM_021147.5(CCNO):c.382-5G>T
|
|
|
|
NM_021147.5(CCNO):c.382-8C>T
|
rs1488166018
|
|
|
NM_021147.5(CCNO):c.398G>T (p.Arg133Leu)
|
rs1554020012
|
|
|
NM_021147.5(CCNO):c.401G>A (p.Cys134Tyr)
|
rs2478549509
|
|
|
NM_021147.5(CCNO):c.40G>T (p.Ala14Ser)
|
rs1745666050
|
|
|
NM_021147.5(CCNO):c.423C>G (p.Ile141Met)
|
rs1472120280
|
|
|
NM_021147.5(CCNO):c.426G>T (p.Pro142=)
|
rs1580411138
|
|
|
NM_021147.5(CCNO):c.427dup (p.Val143fs)
|
rs1436895387
|
|
|
NM_021147.5(CCNO):c.435C>T (p.Arg145=)
|
rs1554020005
|
|
|
NM_021147.5(CCNO):c.444C>T (p.Gly148=)
|
|
|
|
NM_021147.5(CCNO):c.445C>A (p.Leu149Ile)
|
rs1170297559
|
|
|
NM_021147.5(CCNO):c.453C>T (p.Phe151=)
|
rs1197167668
|
|
|
NM_021147.5(CCNO):c.457T>C (p.Ser153Pro)
|
|
|
|
NM_021147.5(CCNO):c.460C>T (p.Leu154=)
|
rs2478548531
|
|
|
NM_021147.5(CCNO):c.471G>T (p.Thr157=)
|
|
|
|
NM_021147.5(CCNO):c.476del (p.Asn159fs)
|
rs2478548428
|
|
|
NM_021147.5(CCNO):c.481_482del (p.Leu161fs)
|
rs587777503
|
|
|
NM_021147.5(CCNO):c.482_483del (p.Leu161fs)
|
rs2478548362
|
|
|
NM_021147.5(CCNO):c.488G>T (p.Arg163Leu)
|
rs766335987
|
|
|
NM_021147.5(CCNO):c.491T>C (p.Phe164Ser)
|
rs755937476
|
|
|
NM_021147.5(CCNO):c.525C>T (p.Phe175=)
|
rs1580410902
|
|
|
NM_021147.5(CCNO):c.528G>A (p.Gln176=)
|
|
|
|
NM_021147.5(CCNO):c.538dup (p.Val180fs)
|
rs774393276
|
|
|
NM_021147.5(CCNO):c.54_55delinsTT (p.Arg18_Arg19delinsSerTrp)
|
rs1745665257
|
|
|
NM_021147.5(CCNO):c.563A>G (p.Lys188Arg)
|
rs1554019966
|
|
|
NM_021147.5(CCNO):c.568-16del
|
rs1438711868
|
|
|
NM_021147.5(CCNO):c.568-1G>A
|
rs1312679513
|
|
|
NM_021147.5(CCNO):c.568-4G>C
|
|
|
|
NM_021147.5(CCNO):c.568-9G>T
|
|
|
|
NM_021147.5(CCNO):c.575T>G (p.Val192Gly)
|
rs998170955
|
|
|
NM_021147.5(CCNO):c.630G>T (p.Arg210=)
|
rs2478544655
|
|
|
NM_021147.5(CCNO):c.660G>T (p.Val220=)
|
rs2478544487
|
|
|
NM_021147.5(CCNO):c.663G>A (p.Leu221=)
|
|
|
|
NM_021147.5(CCNO):c.667_675dup (p.His225_Phe226insLysLeuHis)
|
rs1745587128
|
|
|
NM_021147.5(CCNO):c.66C>T (p.Asp22=)
|
|
|
|
NM_021147.5(CCNO):c.693C>T (p.Pro231=)
|
|
|
|
NM_021147.5(CCNO):c.705C>T (p.Phe235=)
|
|
|
|
NM_021147.5(CCNO):c.746del (p.Gln249fs)
|
rs1745583820
|
|
|
NM_021147.5(CCNO):c.773C>G (p.Ala258Gly)
|
rs368825448
|
|
|
NM_021147.5(CCNO):c.789G>A (p.Arg263=)
|
|
|
|
NM_021147.5(CCNO):c.793del (p.Val265fs)
|
rs769899297
|
|
|
NM_021147.5(CCNO):c.800A>G (p.Glu267Gly)
|
rs2478543119
|
|
|
NM_021147.5(CCNO):c.820G>T (p.Ala274Ser)
|
rs1745578274
|
|
|
NM_021147.5(CCNO):c.828C>T (p.Thr276=)
|
rs940635330
|
|
|
NM_021147.5(CCNO):c.831C>T (p.Ser277=)
|
|
|
|
NM_021147.5(CCNO):c.846C>T (p.Leu282=)
|
rs2478542703
|
|
|
NM_021147.5(CCNO):c.851C>A (p.Ala284Glu)
|
rs1000287085
|
|
|
NM_021147.5(CCNO):c.875_897del (p.Asp292fs)
|
rs1176911729
|
|
|
NM_021147.5(CCNO):c.895C>T (p.Arg299Trp)
|
rs538637609
|
|
|
NM_021147.5(CCNO):c.93G>A (p.Lys31=)
|
|
|
|
NM_021147.5(CCNO):c.961C>T (p.Gln321Ter)
|
rs587777501
|
|
|
NM_021147.5(CCNO):c.978A>G (p.Ile326Met)
|
rs1554019818
|
|
|
NM_021147.5(CCNO):c.996T>C (p.Thr332=)
|
rs1210789924
|
|
|
NM_021147.5(CCNO):c.9C>A (p.Thr3=)
|
rs1008454531
|
|
|
NM_023036.6(DNAI2):c.-21C>A
|
rs753355539
|
|
|
NM_023036.6(DNAI2):c.1005G>C (p.Val335=)
|
rs1598329997
|
|
|
NM_023036.6(DNAI2):c.1005G>T (p.Val335=)
|
rs1598329997
|
|
|
NM_023036.6(DNAI2):c.1007G>A (p.Gly336Glu)
|
rs2509752056
|
|
|
NM_023036.6(DNAI2):c.1008G>T (p.Gly336=)
|
rs2509752063
|
|
|
NM_023036.6(DNAI2):c.1026C>G (p.Val342=)
|
rs2144075616
|
|
|
NM_023036.6(DNAI2):c.1028T>G (p.Ile343Ser)
|
rs2509752143
|
|
|
NM_023036.6(DNAI2):c.1045_1057del (p.Ala349fs)
|
rs2509752180
|
|
|
NM_023036.6(DNAI2):c.1071G>C (p.Val357=)
|
rs2053119347
|
|
|
NM_023036.6(DNAI2):c.1074C>T (p.Cys358=)
|
rs374687041
|
|
|
NM_023036.6(DNAI2):c.1077C>T (p.Thr359=)
|
rs2509752352
|
|
|
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.1103A>G (p.Tyr368Cys)
|
rs2509752469
|
|
|
NM_023036.6(DNAI2):c.1113G>A (p.Gln371=)
|
rs2144076487
|
|
|
NM_023036.6(DNAI2):c.111G>A (p.Leu37=)
|
rs374070900
|
|
|
NM_023036.6(DNAI2):c.1122C>T (p.Pro374=)
|
rs772201762
|
|
|
NM_023036.6(DNAI2):c.1122del (p.Phe375fs)
|
rs2053123483
|
|
|
NM_023036.6(DNAI2):c.1125C>T (p.Phe375=)
|
rs2144076662
|
|
|
NM_023036.6(DNAI2):c.1130C>A (p.Pro377Gln)
|
rs199726930
|
|
|
NM_023036.6(DNAI2):c.1130C>T (p.Pro377Leu)
|
rs199726930
|
|
|
NM_023036.6(DNAI2):c.1132A>T (p.Lys378Ter)
|
rs1598330492
|
|
|
NM_023036.6(DNAI2):c.1134G>A (p.Lys378=)
|
rs1320504737
|
|
|
NM_023036.6(DNAI2):c.1137C>T (p.Asn379=)
|
rs2509752615
|
|
|
NM_023036.6(DNAI2):c.1140C>T (p.Phe380=)
|
rs868645915
|
|
|
NM_023036.6(DNAI2):c.1141C>T (p.Leu381=)
|
rs2053125812
|
|
|
NM_023036.6(DNAI2):c.1146G>C (p.Thr382=)
|
rs142571722
|
|
|
NM_023036.6(DNAI2):c.1147G>C (p.Val383Leu)
|
rs1276398945
|
|
|
NM_023036.6(DNAI2):c.114C>G (p.Ala38=)
|
rs763489979
|
|
|
NM_023036.6(DNAI2):c.1153G>A (p.Asp385Asn)
|
rs567531807
|
|
|
NM_023036.6(DNAI2):c.1155C>T (p.Asp385=)
|
rs2509752698
|
|
|
NM_023036.6(DNAI2):c.1161A>G (p.Thr387=)
|
rs2053128020
|
|
|
NM_023036.6(DNAI2):c.1163C>A (p.Ala388Asp)
|
rs773581570
|
|
|
NM_023036.6(DNAI2):c.1165C>G (p.Arg389Gly)
|
rs375896715
|
|
|
NM_023036.6(DNAI2):c.1167C>A (p.Arg389=)
|
rs1463518851
|
|
|
NM_023036.6(DNAI2):c.1168A>G (p.Ile390Val)
|
|
|
|
NM_023036.6(DNAI2):c.1173G>A (p.Trp391Ter)
|
rs1261918364
|
|
|
NM_023036.6(DNAI2):c.1177G>A (p.Glu393Lys)
|
rs1204464128
|
|
|
NM_023036.6(DNAI2):c.1182C>T (p.Asp394=)
|
rs2053130363
|
|
|
NM_023036.6(DNAI2):c.1186C>A (p.Arg396=)
|
rs758643189
|
|
|
NM_023036.6(DNAI2):c.1186_1193del (p.Arg396fs)
|
rs2509752841
|
|
|
NM_023036.6(DNAI2):c.119A>G (p.Gln40Arg)
|
rs1060502200
|
|
|
NM_023036.6(DNAI2):c.1200C>T (p.Ile400=)
|
rs2144077545
|
|
|
NM_023036.6(DNAI2):c.1209C>A (p.Thr403=)
|
rs2053132959
|
|
|
NM_023036.6(DNAI2):c.1209C>T (p.Thr403=)
|
rs2053132959
|
|
|
NM_023036.6(DNAI2):c.120G>A (p.Gln40=)
|
rs1274866190
|
|
|
NM_023036.6(DNAI2):c.120G>T (p.Gln40His)
|
rs1274866190
|
|
|
NM_023036.6(DNAI2):c.1211+17G>T
|
rs2509753032
|
|
|
NM_023036.6(DNAI2):c.1211+18G>A
|
|
|
|
NM_023036.6(DNAI2):c.1211+2_1211+5del
|
rs2144077639
|
|
|
NM_023036.6(DNAI2):c.1211+7G>C
|
rs2053133531
|
|
|
NM_023036.6(DNAI2):c.1211+9C>G
|
rs1303264941
|
|
|
NM_023036.6(DNAI2):c.1212-17T>C
|
rs2144104801
|
|
|
NM_023036.6(DNAI2):c.1212-17_1250del
|
|
|
|
NM_023036.6(DNAI2):c.1212-19T>A
|
rs2509762629
|
|
|
NM_023036.6(DNAI2):c.1212-23_1212-9del
|
rs767957813
|
|
|
NM_023036.6(DNAI2):c.1212-2A>C
|
rs2509762743
|
|
|
NM_023036.6(DNAI2):c.1212-7C>T
|
rs1598339876
|
|
|
NM_023036.6(DNAI2):c.1212-9C>T
|
rs2144104892
|
|
|
NM_023036.6(DNAI2):c.1213T>A (p.Tyr405Asn)
|
rs2509762752
|
|
|
NM_023036.6(DNAI2):c.1227C>T (p.Tyr409=)
|
rs753085588
|
|
|
NM_023036.6(DNAI2):c.1236T>C (p.Asp412=)
|
rs2053366218
|
|
|
NM_023036.6(DNAI2):c.1239T>C (p.Ala413=)
|
rs375806637
|
|
|
NM_023036.6(DNAI2):c.123C>T (p.Phe41=)
|
rs542439989
|
|
|
NM_023036.6(DNAI2):c.1244G>A (p.Trp415Ter)
|
rs2053367000
|
|
|
NM_023036.6(DNAI2):c.1245G>A (p.Trp415Ter)
|
rs2509762865
|
|
|
NM_023036.6(DNAI2):c.1248C>T (p.Ser416=)
|
rs886053378
|
|
|
NM_023036.6(DNAI2):c.1252G>A (p.Val418Met)
|
rs564337753
|
|
|
NM_023036.6(DNAI2):c.1255A>T (p.Arg419Trp)
|
rs561780132
|
|
|
NM_023036.6(DNAI2):c.1260G>T (p.Pro420=)
|
rs200043910
|
|
|
NM_023036.6(DNAI2):c.1260_1293del (p.Thr421fs)
|
rs2144105381
|
|
|
NM_023036.6(DNAI2):c.1263C>G (p.Thr421=)
|
rs771686170
|
|
|
NM_023036.6(DNAI2):c.1263C>T (p.Thr421=)
|
rs771686170
|
|
|
NM_023036.6(DNAI2):c.126G>A (p.Val42=)
|
rs2143874984
|
|
|
NM_023036.6(DNAI2):c.1275C>A (p.Thr425=)
|
rs1598340123
|
|
|
NM_023036.6(DNAI2):c.1287C>G (p.Asp429Glu)
|
|
|
|
NM_023036.6(DNAI2):c.1287C>T (p.Asp429=)
|
rs372940037
|
|
|
NM_023036.6(DNAI2):c.1291A>G (p.Thr431Ala)
|
|
|
|
NM_023036.6(DNAI2):c.1293C>A (p.Thr431=)
|
rs2144105751
|
|
|
NM_023036.6(DNAI2):c.1294C>T (p.Leu432=)
|
|
|
|
NM_023036.6(DNAI2):c.1299T>C (p.Asp433=)
|
rs2144105794
|
|
|
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.1309T>A (p.Phe437Ile)
|
rs150182125
|
|
|
NM_023036.6(DNAI2):c.1317C>T (p.Phe439=)
|
rs199524166
|
|
|
NM_023036.6(DNAI2):c.1323G>A (p.Gln441=)
|
rs2509763151
|
|
|
NM_023036.6(DNAI2):c.1326C>A (p.Cys442Ter)
|
rs537816710
|
|
|
NM_023036.6(DNAI2):c.132del (p.Asn45fs)
|
rs1567840448
|
|
|
NM_023036.6(DNAI2):c.1335C>T (p.Thr445=)
|
|
|
|
NM_023036.6(DNAI2):c.1336C>G (p.Leu446Val)
|
|
|
|
NM_023036.6(DNAI2):c.1338C>G (p.Leu446=)
|
rs1246377044
|
|
|
NM_023036.6(DNAI2):c.1338C>T (p.Leu446=)
|
rs1246377044
|
|
|
NM_023036.6(DNAI2):c.1347+10A>G
|
rs1283195124
|
|
|
NM_023036.6(DNAI2):c.1347+13T>A
|
rs534223470
|
|
|
NM_023036.6(DNAI2):c.1347+14C>A
|
rs2053377647
|
|
|
NM_023036.6(DNAI2):c.1347+18C>T
|
rs2509763351
|
|
|
NM_023036.6(DNAI2):c.1347+6_1347+7delinsTT
|
rs2144106208
|
|
|
NM_023036.6(DNAI2):c.1347+7C>G
|
rs2290955
|
|
|
NM_023036.6(DNAI2):c.1347+8G>A
|
rs763011642
|
|
|
NM_023036.6(DNAI2):c.1347+8G>C
|
rs763011642
|
|
|
NM_023036.6(DNAI2):c.1348-11C>G
|
rs983850105
|
|
|
NM_023036.6(DNAI2):c.1348-14G>T
|
rs374828965
|
|
|
NM_023036.6(DNAI2):c.1348-15C>G
|
rs755825865
|
|
|
NM_023036.6(DNAI2):c.1348-15C>T
|
rs755825865
|
|
|
NM_023036.6(DNAI2):c.1348-18G>T
|
rs1211012900
|
|
|
NM_023036.6(DNAI2):c.1348-1G>T
|
rs745755917
|
|
|
NM_023036.6(DNAI2):c.1348-4A>G
|
rs2509766352
|
|
|
NM_023036.6(DNAI2):c.1348-6C>T
|
rs2144112203
|
|
|
NM_023036.6(DNAI2):c.1350G>T (p.Val450=)
|
rs2144112278
|
|
|
NM_023036.6(DNAI2):c.1357G>A (p.Glu453Lys)
|
|
|
|
NM_023036.6(DNAI2):c.1357del (p.Glu453fs)
|
rs2144112404
|
|
|
NM_023036.6(DNAI2):c.1357dup (p.Glu453fs)
|
rs1555614910
|
|
|
NM_023036.6(DNAI2):c.1360del (p.Ala454fs)
|
rs2509766413
|
|
|
NM_023036.6(DNAI2):c.1362C>T (p.Ala454=)
|
rs2144112441
|
|
|
NM_023036.6(DNAI2):c.1365C>T (p.Leu455=)
|
rs2144112493
|
|
|
NM_023036.6(DNAI2):c.1368C>A (p.Phe456Leu)
|
rs773370913
|
|
|
NM_023036.6(DNAI2):c.1375del (p.Arg459fs)
|
rs2144112583
|
|
|
NM_023036.6(DNAI2):c.1389T>C (p.Asn463=)
|
rs1598342483
|
|
|
NM_023036.6(DNAI2):c.1401C>G (p.Ile467Met)
|
rs371989598
|
|
|
NM_023036.6(DNAI2):c.1407C>A (p.Cys469Ter)
|
rs143723454
|
|
|
NM_023036.6(DNAI2):c.1416G>A (p.Gln472=)
|
rs2509766629
|
|
|
NM_023036.6(DNAI2):c.1422G>A (p.Gly474=)
|
rs2509766668
|
|
|
NM_023036.6(DNAI2):c.1422del (p.Thr475fs)
|
rs1240172375
|
|
|
NM_023036.6(DNAI2):c.1428C>G (p.Thr476=)
|
rs758354268
|
|
|
NM_023036.6(DNAI2):c.1428del (p.Thr477fs)
|
rs2144113081
|
|
|
NM_023036.6(DNAI2):c.1434G>A (p.Leu478=)
|
|
|
|
NM_023036.6(DNAI2):c.1437G>A (p.Leu479=)
|
rs1356113280
|
|
|
NM_023036.6(DNAI2):c.1441del (p.Val481fs)
|
rs2509766795
|
|
|
NM_023036.6(DNAI2):c.1445C>T (p.Ser482Leu)
|
|
|
|
NM_023036.6(DNAI2):c.1446G>A (p.Ser482=)
|
rs368217836
|
|
|
NM_023036.6(DNAI2):c.1448del (p.Pro483fs)
|
rs2509766818
|
|
|
NM_023036.6(DNAI2):c.144C>T (p.Asp48=)
|
rs755741675
|
|
|
NM_023036.6(DNAI2):c.1452G>C (p.Gly484=)
|
rs1759061828
|
|
|
NM_023036.6(DNAI2):c.1459_1460delinsCATT (p.Thr487fs)
|
rs1598342751
|
|
|
NM_023036.6(DNAI2):c.1461C>T (p.Thr487=)
|
rs2509766901
|
|
|
NM_023036.6(DNAI2):c.1473T>C (p.Asn491=)
|
rs2509766939
|
|
|
NM_023036.6(DNAI2):c.147G>A (p.Thr49=)
|
rs369017940
|
|
|
NM_023036.6(DNAI2):c.147G>C (p.Thr49=)
|
rs369017940
|
|
|
NM_023036.6(DNAI2):c.1491T>C (p.Ser497=)
|
rs2144113722
|
|
|
NM_023036.6(DNAI2):c.1494+12G>C
|
rs766189697
|
|
|
NM_023036.6(DNAI2):c.1494+18G>A
|
rs1169506158
|
|
|
NM_023036.6(DNAI2):c.1494+1G>T
|
rs397515565
|
|
|
NM_023036.6(DNAI2):c.1494+7A>G
|
rs2144113793
|
|
|
NM_023036.6(DNAI2):c.1495-12C>T
|
rs772697427
|
|
|
NM_023036.6(DNAI2):c.1495-13C>G
|
rs2509773743
|
|
|
NM_023036.6(DNAI2):c.1495-14C>G
|
rs1213920330
|
|
|
NM_023036.6(DNAI2):c.1495-14C>T
|
rs1213920330
|
|
|
NM_023036.6(DNAI2):c.1495-2A>T
|
rs2509773839
|
|
|
NM_023036.6(DNAI2):c.1495-2_1495-1delinsTT
|
rs2509773849
|
|
|
NM_023036.6(DNAI2):c.1495-3C>T
|
rs555938890
|
|
|
NM_023036.6(DNAI2):c.1495-4C>T
|
rs765760420
|
|
|
NM_023036.6(DNAI2):c.1497G>A (p.Met499Ile)
|
rs1224398877
|
|
|
NM_023036.6(DNAI2):c.1506T>C (p.Arg502=)
|
rs1060504506
|
|
|
NM_023036.6(DNAI2):c.1506T>G (p.Arg502=)
|
|
|
|
NM_023036.6(DNAI2):c.1509G>A (p.Glu503=)
|
rs2509773935
|
|
|
NM_023036.6(DNAI2):c.1512C>G (p.Thr504=)
|
rs1273766803
|
|
|
NM_023036.6(DNAI2):c.1512C>T (p.Thr504=)
|
rs1273766803
|
|
|
NM_023036.6(DNAI2):c.1513del (p.Arg505fs)
|
rs2509773951
|
|
|
NM_023036.6(DNAI2):c.1515G>A (p.Arg505=)
|
rs2509773993
|
|
|
NM_023036.6(DNAI2):c.1515_1600del (p.Arg505_Arg506insTer)
|
|
|
|
NM_023036.6(DNAI2):c.1516C>T (p.Arg506Ter)
|
rs141581673
|
|
|
NM_023036.6(DNAI2):c.1527C>A (p.Ile509=)
|
rs1395585835
|
|
|
NM_023036.6(DNAI2):c.154C>T (p.Gln52Ter)
|
rs2509682200
|
|
|
NM_023036.6(DNAI2):c.1552C>A (p.Arg518=)
|
rs377582813
|
|
|
NM_023036.6(DNAI2):c.1555_1561del (p.Leu519fs)
|
rs2509774238
|
|
|
NM_023036.6(DNAI2):c.1557G>A (p.Leu519=)
|
rs1223294262
|
|
|
NM_023036.6(DNAI2):c.1557G>T (p.Leu519=)
|
rs1223294262
|
|
|
NM_023036.6(DNAI2):c.1567G>T (p.Gly523Cys)
|
rs2053558785
|
|
|
NM_023036.6(DNAI2):c.1571A>G (p.Lys524Arg)
|
rs1211582211
|
|
|
NM_023036.6(DNAI2):c.1588G>A (p.Glu530Lys)
|
|
|
|
NM_023036.6(DNAI2):c.1599C>A (p.Thr533=)
|
rs139915367
|
|
|
NM_023036.6(DNAI2):c.1599C>G (p.Thr533=)
|
rs139915367
|
|
|
NM_023036.6(DNAI2):c.15C>A (p.Tyr5Ter)
|
rs760845605
|
|
|
NM_023036.6(DNAI2):c.1600G>A (p.Asp534Asn)
|
rs538543314
|
|
|
NM_023036.6(DNAI2):c.1600del (p.Asp534fs)
|
rs2509774436
|
|
|
NM_023036.6(DNAI2):c.1626G>A (p.Glu542=)
|
rs1357252118
|
|
|
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>G (p.Ala548=)
|
rs9908476
|
|
|
NM_023036.6(DNAI2):c.1644C>T (p.Ala548=)
|
rs9908476
|
|
|
NM_023036.6(DNAI2):c.1645GAG[2] (p.Glu551del)
|
rs776613484
|
|
|
NM_023036.6(DNAI2):c.1653G>A (p.Glu551=)
|
rs1259057139
|
|
|
NM_023036.6(DNAI2):c.165C>T (p.Ile55=)
|
rs2051418197
|
|
|
NM_023036.6(DNAI2):c.1660G>C (p.Asp554His)
|
rs117932646
|
|
|
NM_023036.6(DNAI2):c.1665C>A (p.Ile555=)
|
rs2509774765
|
|
|
NM_023036.6(DNAI2):c.1667T>C (p.Ile556Thr)
|
|
|
|
NM_023036.6(DNAI2):c.1672_1673del (p.Ala558fs)
|
rs1598348312
|
|
|
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.1683del (p.Lys562fs)
|
rs2053566684
|
|
|
NM_023036.6(DNAI2):c.1700C>A (p.Ala567Asp)
|
rs1282053872
|
|
|
NM_023036.6(DNAI2):c.170T>C (p.Met57Thr)
|
rs2509682283
|
|
|
NM_023036.6(DNAI2):c.1713G>C (p.Thr571=)
|
rs377499410
|
|
|
NM_023036.6(DNAI2):c.1722+14C>T
|
rs2509775214
|
|
|
NM_023036.6(DNAI2):c.1722+15A>G
|
rs1364137416
|
|
|
NM_023036.6(DNAI2):c.1722+15_1722+16del
|
rs2509775240
|
|
|
NM_023036.6(DNAI2):c.1722+1G>A
|
rs2053569243
|
|
|
NM_023036.6(DNAI2):c.1722+8C>A
|
rs1385576590
|
|
|
NM_023036.6(DNAI2):c.1723-17G>A
|
rs749917864
|
|
|
NM_023036.6(DNAI2):c.1723-19G>A
|
rs1411137257
|
|
|
NM_023036.6(DNAI2):c.1723-20T>C
|
rs2509782766
|
|
|
NM_023036.6(DNAI2):c.1723-4G>A
|
rs2144147476
|
|
|
NM_023036.6(DNAI2):c.1723-5T>C
|
rs2509782860
|
|
|
NM_023036.6(DNAI2):c.1723-9C>G
|
rs1598353478
|
|
|
NM_023036.6(DNAI2):c.1729C>T (p.Pro577Ser)
|
|
|
|
NM_023036.6(DNAI2):c.1737A>G (p.Pro579=)
|
rs2509782931
|
|
|
NM_023036.6(DNAI2):c.1737AGA[2] (p.Glu581del)
|
rs886053379
|
|
|
NM_023036.6(DNAI2):c.1749G>A (p.Gln583=)
|
rs2509782987
|
|
|
NM_023036.6(DNAI2):c.1751T>C (p.Val584Ala)
|
rs2509783002
|
|
|
NM_023036.6(DNAI2):c.1761G>A (p.Glu587=)
|
rs1598353611
|
|
|
NM_023036.6(DNAI2):c.1762G>A (p.Gly588Arg)
|
rs749213632
|
|
|
NM_023036.6(DNAI2):c.1763del (p.Gly588fs)
|
rs2053693881
|
|
|
NM_023036.6(DNAI2):c.1773A>G (p.Ala591=)
|
rs2144147960
|
|
|
NM_023036.6(DNAI2):c.1782A>G (p.Glu594=)
|
rs762217686
|
|
|
NM_023036.6(DNAI2):c.1786G>A (p.Gly596Arg)
|
rs1486049035
|
|
|
NM_023036.6(DNAI2):c.1788G>C (p.Gly596=)
|
rs926548169
|
|
|
NM_023036.6(DNAI2):c.1794A>G (p.Glu598=)
|
rs2144148291
|
|
|
NM_023036.6(DNAI2):c.1795G>T (p.Glu599Ter)
|
rs1374403931
|
|
|
NM_023036.6(DNAI2):c.1806A>G (p.Glu602=)
|
rs1375459041
|
|
|
NM_023036.6(DNAI2):c.180C>T (p.His60=)
|
rs1271704546
|
|
|
NM_023036.6(DNAI2):c.1818G>A (p.Ter606=)
|
rs2509783342
|
|
|
NM_023036.6(DNAI2):c.183+15C>T
|
rs2509682406
|
|
|
NM_023036.6(DNAI2):c.183+20G>T
|
rs771564902
|
|
|
NM_023036.6(DNAI2):c.184-13G>A
|
rs2509692376
|
|
|
NM_023036.6(DNAI2):c.184-15C>A
|
rs774597549
|
|
|
NM_023036.6(DNAI2):c.184-1G>A
|
rs1598278059
|
|
|
NM_023036.6(DNAI2):c.184-20T>G
|
rs2509692333
|
|
|
NM_023036.6(DNAI2):c.184-2A>T
|
|
|
|
NM_023036.6(DNAI2):c.184-8C>T
|
rs2143902452
|
|
|
NM_023036.6(DNAI2):c.184-9T>C
|
rs2143902431
|
|
|
NM_023036.6(DNAI2):c.18G>A (p.Val6=)
|
rs1266514021
|
|
|
NM_023036.6(DNAI2):c.192A>T (p.Ser64=)
|
rs2509692452
|
|
|
NM_023036.6(DNAI2):c.196C>A (p.Arg66=)
|
rs371226659
|
|
|
NM_023036.6(DNAI2):c.197G>A (p.Arg66Gln)
|
rs147470752
|
|
|
NM_023036.6(DNAI2):c.204G>C (p.Glu68Asp)
|
rs1400041025
|
|
|
NM_023036.6(DNAI2):c.213C>T (p.Thr71=)
|
rs2509692557
|
|
|
NM_023036.6(DNAI2):c.215G>T (p.Arg72Leu)
|
rs200668134
|
|
|
NM_023036.6(DNAI2):c.21C>G (p.Tyr7Ter)
|
rs764381446
|
|
|
NM_023036.6(DNAI2):c.225C>A (p.Asn75Lys)
|
|
|
|
NM_023036.6(DNAI2):c.225C>G (p.Asn75Lys)
|
rs2143902905
|
|
|
NM_023036.6(DNAI2):c.225C>T (p.Asn75=)
|
rs2143902905
|
|
|
NM_023036.6(DNAI2):c.228T>C (p.His76=)
|
rs2509692621
|
|
|
NM_023036.6(DNAI2):c.231dup (p.Glu78fs)
|
rs2509692646
|
|
|
NM_023036.6(DNAI2):c.233A>G (p.Glu78Gly)
|
|
|
|
NM_023036.6(DNAI2):c.246_250del (p.Lys83fs)
|
rs2143903171
|
|
|
NM_023036.6(DNAI2):c.250del (p.Asp84fs)
|
rs769251936
|
|
|
NM_023036.6(DNAI2):c.253G>A (p.Val85Met)
|
rs749468635
|
|
|
NM_023036.6(DNAI2):c.260C>T (p.Pro87Leu)
|
|
|
|
NM_023036.6(DNAI2):c.261_262dup (p.Leu88fs)
|
rs2509692803
|
|
|
NM_023036.6(DNAI2):c.262del (p.Leu88fs)
|
rs2509692803
|
|
|
NM_023036.6(DNAI2):c.267G>A (p.Glu89=)
|
rs1469550104
|
|
|
NM_023036.6(DNAI2):c.279C>T (p.Thr93=)
|
rs1033783344
|
|
|
NM_023036.6(DNAI2):c.27G>A (p.Lys9=)
|
rs2143873748
|
|
|
NM_023036.6(DNAI2):c.297A>G (p.Lys99=)
|
rs2509692921
|
|
|
NM_023036.6(DNAI2):c.300G>C (p.Val100=)
|
rs376247013
|
|
|
NM_023036.6(DNAI2):c.303G>A (p.Glu101=)
|
rs199535813
|
|
|
NM_023036.6(DNAI2):c.30G>A (p.Lys10=)
|
rs2509681472
|
|
|
NM_023036.6(DNAI2):c.318C>T (p.Tyr106=)
|
rs764812763
|
|
|
NM_023036.6(DNAI2):c.325_326del (p.Ala109fs)
|
rs2509693023
|
|
|
NM_023036.6(DNAI2):c.32G>A (p.Arg11His)
|
rs762305426
|
|
|
NM_023036.6(DNAI2):c.335A>G (p.Gln112Arg)
|
rs2051638403
|
|
|
NM_023036.6(DNAI2):c.336G>A (p.Gln112=)
|
rs751496866
|
|
|
NM_023036.6(DNAI2):c.339C>G (p.Leu113=)
|
rs957243389
|
|
|
NM_023036.6(DNAI2):c.339C>T (p.Leu113=)
|
rs957243389
|
|
|
NM_023036.6(DNAI2):c.33C>A (p.Arg11=)
|
rs2143873820
|
|
|
NM_023036.6(DNAI2):c.33C>T (p.Arg11=)
|
rs2143873820
|
|
|
NM_023036.6(DNAI2):c.340G>A (p.Gly114Ser)
|
rs764225804
|
|
|
NM_023036.6(DNAI2):c.340_341delinsTT (p.Gly114Phe)
|
|
|
|
NM_023036.6(DNAI2):c.341G>T (p.Gly114Val)
|
rs1271406619
|
|
|
NM_023036.6(DNAI2):c.342C>T (p.Gly114=)
|
rs757494255
|
|
|
NM_023036.6(DNAI2):c.344C>A (p.Ser115Tyr)
|
rs779060081
|
|
|
NM_023036.6(DNAI2):c.345+13C>T
|
|
|
|
NM_023036.6(DNAI2):c.345+17C>T
|
|
|
|
NM_023036.6(DNAI2):c.345+19C>A
|
rs1351372006
|
|
|
NM_023036.6(DNAI2):c.345+19C>T
|
|
|
|
NM_023036.6(DNAI2):c.345+1G>T
|
|
|
|
NM_023036.6(DNAI2):c.345+20C>T
|
rs747475424
|
|
|
NM_023036.6(DNAI2):c.345+2T>C
|
rs2509693120
|
|
|
NM_023036.6(DNAI2):c.346-10T>C
|
rs758678063
|
|
|
NM_023036.6(DNAI2):c.346-11G>T
|
|
|
|
NM_023036.6(DNAI2):c.346-13G>A
|
rs750660614
|
|
|
NM_023036.6(DNAI2):c.346-3T>G
|
rs397515358
|
|
|
NM_023036.6(DNAI2):c.346-5C>T
|
rs751933779
|
|
|
NM_023036.6(DNAI2):c.346-9C>G
|
rs780216155
|
|
|
NM_023036.6(DNAI2):c.346-9C>T
|
rs780216155
|
|
|
NM_023036.6(DNAI2):c.350T>C (p.Met117Thr)
|
|
|
|
NM_023036.6(DNAI2):c.354G>A (p.Glu118=)
|
rs2509698342
|
|
|
NM_023036.6(DNAI2):c.355C>A (p.His119Asn)
|
|
|
|
NM_023036.6(DNAI2):c.357C>T (p.His119=)
|
rs2509698366
|
|
|
NM_023036.6(DNAI2):c.369G>A (p.Gln123=)
|
rs2509698426
|
|
|
NM_023036.6(DNAI2):c.405T>C (p.Asn135=)
|
rs2143921332
|
|
|
NM_023036.6(DNAI2):c.408C>A (p.Asp136Glu)
|
rs770624431
|
|
|
NM_023036.6(DNAI2):c.411G>A (p.Glu137=)
|
rs1305242771
|
|
|
NM_023036.6(DNAI2):c.412G>T (p.Glu138Ter)
|
rs2051791551
|
|
|
NM_023036.6(DNAI2):c.42C>T (p.Phe14=)
|
rs1305282590
|
|
|
NM_023036.6(DNAI2):c.433G>T (p.Glu145Ter)
|
rs2051792816
|
|
|
NM_023036.6(DNAI2):c.444A>G (p.Ser148=)
|
rs2143921761
|
|
|
NM_023036.6(DNAI2):c.444A>T (p.Ser148=)
|
rs2143921761
|
|
|
NM_023036.6(DNAI2):c.447T>C (p.Ala149=)
|
rs763026333
|
|
|
NM_023036.6(DNAI2):c.459T>C (p.Asn153=)
|
rs2509698781
|
|
|
NM_023036.6(DNAI2):c.467+14C>G
|
rs2509698849
|
|
|
NM_023036.6(DNAI2):c.467+17G>T
|
rs2509698853
|
|
|
NM_023036.6(DNAI2):c.467+7C>T
|
rs1421393242
|
|
|
NM_023036.6(DNAI2):c.467+9A>G
|
rs2143922010
|
|
|
NM_023036.6(DNAI2):c.468-13C>T
|
|
|
|
NM_023036.6(DNAI2):c.468-14C>T
|
|
|
|
NM_023036.6(DNAI2):c.468-2A>G
|
rs2143940594
|
|
|
NM_023036.6(DNAI2):c.468-7C>T
|
rs756523421
|
|
|
NM_023036.6(DNAI2):c.474C>A (p.Pro158=)
|
rs2051961198
|
|
|
NM_023036.6(DNAI2):c.474C>T (p.Pro158=)
|
rs2051961198
|
|
|
NM_023036.6(DNAI2):c.475del (p.Gln159fs)
|
rs1242821238
|
|
|
NM_023036.6(DNAI2):c.477G>A (p.Gln159=)
|
rs2051961310
|
|
|
NM_023036.6(DNAI2):c.480A>G (p.Glu160=)
|
rs2143940713
|
|
|
NM_023036.6(DNAI2):c.483C>T (p.Ile161=)
|
rs1598289369
|
|
|
NM_023036.6(DNAI2):c.489G>A (p.Arg163=)
|
rs2509705603
|
|
|
NM_023036.6(DNAI2):c.495C>T (p.Ala165=)
|
rs2143940825
|
|
|
NM_023036.6(DNAI2):c.50A>C (p.Gln17Pro)
|
rs777425543
|
|
|
NM_023036.6(DNAI2):c.51G>A (p.Gln17=)
|
rs1029295506
|
|
|
NM_023036.6(DNAI2):c.523A>C (p.Asn175His)
|
rs2051964339
|
|
|
NM_023036.6(DNAI2):c.525C>T (p.Asn175=)
|
rs931990566
|
|
|
NM_023036.6(DNAI2):c.527_529delinsTAGTGAGACTTCATTTCTACACTTTTTTTTTAATTACCC (p.Arg176_Lys177delinsIleValArgLeuHisPheTyrThrPhePheLeuIleThrGln)
|
rs2143941130
|
|
|
NM_023036.6(DNAI2):c.528G>A (p.Arg176=)
|
rs2143941147
|
|
|
NM_023036.6(DNAI2):c.543A>T (p.Ala181=)
|
rs2143941244
|
|
|
NM_023036.6(DNAI2):c.546C>G (p.Tyr182Ter)
|
rs770946088
|
|
|
NM_023036.6(DNAI2):c.562C>T (p.Gln188Ter)
|
rs1194460219
|
|
|
NM_023036.6(DNAI2):c.576G>A (p.Val192=)
|
rs2509706077
|
|
|
NM_023036.6(DNAI2):c.585C>T (p.Ser195=)
|
rs2143941526
|
|
|
NM_023036.6(DNAI2):c.587G>A (p.Ser196Asn)
|
rs1567850585
|
|
|
NM_023036.6(DNAI2):c.588C>T (p.Ser196=)
|
rs1359353945
|
|
|
NM_023036.6(DNAI2):c.594A>G (p.Ser198=)
|
rs2509706156
|
|
|
NM_023036.6(DNAI2):c.606C>T (p.Asp202=)
|
rs2509706213
|
|
|
NM_023036.6(DNAI2):c.609G>A (p.Leu203=)
|
rs2143941710
|
|
|
NM_023036.6(DNAI2):c.610+10A>G
|
rs2143941784
|
|
|
NM_023036.6(DNAI2):c.610+1G>T
|
rs758109864
|
|
|
NM_023036.6(DNAI2):c.610+20T>C
|
rs2509706350
|
|
|
NM_023036.6(DNAI2):c.610+9C>G
|
rs751280204
|
|
|
NM_023036.6(DNAI2):c.611-13T>C
|
rs780969152
|
|
|
NM_023036.6(DNAI2):c.611-17T>A
|
rs2509709990
|
|
|
NM_023036.6(DNAI2):c.611-19A>C
|
rs1177811818
|
|
|
NM_023036.6(DNAI2):c.611-19A>T
|
rs1177811818
|
|
|
NM_023036.6(DNAI2):c.611-6T>G
|
rs2509710038
|
|
|
NM_023036.6(DNAI2):c.611-7T>C
|
rs2143951498
|
|
|
NM_023036.6(DNAI2):c.611-7T>G
|
rs2143951498
|
|
|
NM_023036.6(DNAI2):c.614del (p.Asn205fs)
|
rs2509710080
|
|
|
NM_023036.6(DNAI2):c.618CAA[1] (p.Asn207del)
|
rs763228543
|
|
|
NM_023036.6(DNAI2):c.618del (p.Asn207fs)
|
rs773436223
|
|
|
NM_023036.6(DNAI2):c.621C>A (p.Asn207Lys)
|
|
|
|
NM_023036.6(DNAI2):c.621C>T (p.Asn207=)
|
rs2052059556
|
|
|
NM_023036.6(DNAI2):c.638T>G (p.Leu213Arg)
|
rs1060502201
|
|
|
NM_023036.6(DNAI2):c.63G>C (p.Ser21=)
|
rs747888220
|
|
|
NM_023036.6(DNAI2):c.645A>G (p.Pro215=)
|
rs2143951830
|
|
|
NM_023036.6(DNAI2):c.654A>T (p.Pro218=)
|
rs267605036
|
|
|
NM_023036.6(DNAI2):c.657C>G (p.Leu219=)
|
rs539461253
|
|
|
NM_023036.6(DNAI2):c.660G>T (p.Val220=)
|
rs1567852279
|
|
|
NM_023036.6(DNAI2):c.663G>T (p.Thr221=)
|
rs368232107
|
|
|
NM_023036.6(DNAI2):c.667dup (p.Glu223fs)
|
|
|
|
NM_023036.6(DNAI2):c.669G>A (p.Glu223=)
|
rs1211030253
|
|
|
NM_023036.6(DNAI2):c.66C>T (p.Asp22=)
|
rs1289307255
|
|
|
NM_023036.6(DNAI2):c.675C>T (p.Asn225=)
|
rs2052063737
|
|
|
NM_023036.6(DNAI2):c.694C>A (p.Leu232Ile)
|
|
|
|
NM_023036.6(DNAI2):c.697C>T (p.Leu233=)
|
rs2509710424
|
|
|
NM_023036.6(DNAI2):c.69C>T (p.Arg23=)
|
rs2143874354
|
|
|
NM_023036.6(DNAI2):c.701G>A (p.Gly234Asp)
|
rs897911822
|
|
|
NM_023036.6(DNAI2):c.702T>C (p.Gly234=)
|
rs2143952522
|
|
|
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.70C>G (p.Gln24Glu)
|
rs777662498
|
|
|
NM_023036.6(DNAI2):c.714T>C (p.Asn238=)
|
rs2509710508
|
|
|
NM_023036.6(DNAI2):c.724+12C>A
|
rs2509710590
|
|
|
NM_023036.6(DNAI2):c.724+14T>C
|
|
|
|
NM_023036.6(DNAI2):c.724+18C>T
|
rs2052069460
|
|
|
NM_023036.6(DNAI2):c.724+20TTTTTA[2]
|
rs759506250
|
|
|
NM_023036.6(DNAI2):c.724+20TTTTTA[4]
|
rs759506250
|
|
|
NM_023036.6(DNAI2):c.724+24del
|
rs771046755
|
|
|
NM_023036.6(DNAI2):c.724+24dup
|
rs771046755
|
|
|
NM_023036.6(DNAI2):c.724G>C (p.Ala242Pro)
|
|
|
|
NM_023036.6(DNAI2):c.725-13_725-11del
|
rs757025123
|
|
|
NM_023036.6(DNAI2):c.725-15C>A
|
|
|
|
NM_023036.6(DNAI2):c.725-5A>T
|
rs1262236006
|
|
|
NM_023036.6(DNAI2):c.725-6C>G
|
rs374155875
|
|
|
NM_023036.6(DNAI2):c.725-8C>T
|
rs2144026133
|
|
|
NM_023036.6(DNAI2):c.725-9C>T
|
rs2509734140
|
|
|
NM_023036.6(DNAI2):c.726C>G (p.Ala242=)
|
|
|
|
NM_023036.6(DNAI2):c.732G>A (p.Trp244Ter)
|
rs2144026301
|
|
|
NM_023036.6(DNAI2):c.738C>A (p.Thr246=)
|
rs954506062
|
|
|
NM_023036.6(DNAI2):c.738C>T (p.Thr246=)
|
rs954506062
|
|
|
NM_023036.6(DNAI2):c.747C>A (p.Gly249=)
|
rs148488355
|
|
|
NM_023036.6(DNAI2):c.750C>T (p.Ser250=)
|
rs2509734287
|
|
|
NM_023036.6(DNAI2):c.75C>T (p.Ala25=)
|
rs749172812
|
|
|
NM_023036.6(DNAI2):c.776A>C (p.Glu259Ala)
|
rs2509734398
|
|
|
NM_023036.6(DNAI2):c.780C>T (p.Ser260=)
|
rs935472934
|
|
|
NM_023036.6(DNAI2):c.787C>G (p.Arg263Gly)
|
rs137852998
|
|
|
NM_023036.6(DNAI2):c.78G>A (p.Glu26=)
|
rs372357313
|
|
|
NM_023036.6(DNAI2):c.795T>C (p.Pro265=)
|
rs761552228
|
|
|
NM_023036.6(DNAI2):c.798G>A (p.Val266=)
|
rs1598313604
|
|
|
NM_023036.6(DNAI2):c.801T>C (p.Tyr267=)
|
rs2509734478
|
|
|
NM_023036.6(DNAI2):c.804C>G (p.Gly268=)
|
rs2144027042
|
|
|
NM_023036.6(DNAI2):c.810C>A (p.Ile270=)
|
rs2052655463
|
|
|
NM_023036.6(DNAI2):c.810C>G (p.Ile270Met)
|
rs2052655463
|
|
|
NM_023036.6(DNAI2):c.814C>T (p.Leu272=)
|
rs1183280081
|
|
|
NM_023036.6(DNAI2):c.816G>A (p.Leu272=)
|
rs62065712
|
|
|
NM_023036.6(DNAI2):c.819G>A (p.Gln273=)
|
rs2509734565
|
|
|
NM_023036.6(DNAI2):c.823A>T (p.Lys275Ter)
|
rs2509734575
|
|
|
NM_023036.6(DNAI2):c.831C>T (p.Gly277=)
|
rs757613765
|
|
|
NM_023036.6(DNAI2):c.835G>A (p.Glu279Lys)
|
|
|
|
NM_023036.6(DNAI2):c.837G>A (p.Glu279=)
|
rs772574421
|
|
|
NM_023036.6(DNAI2):c.840C>T (p.Cys280=)
|
rs1275378188
|
|
|
NM_023036.6(DNAI2):c.853A>G (p.Thr285Ala)
|
rs2509734625
|
|
|
NM_023036.6(DNAI2):c.861G>A (p.Gly287=)
|
rs1251822840
|
|
|
NM_023036.6(DNAI2):c.864+10A>T
|
rs2509734722
|
|
|
NM_023036.6(DNAI2):c.864+16A>C
|
rs2509734740
|
|
|
NM_023036.6(DNAI2):c.864+17C>A
|
rs2509734746
|
|
|
NM_023036.6(DNAI2):c.864+19C>G
|
rs752816207
|
|
|
NM_023036.6(DNAI2):c.864+19C>T
|
rs752816207
|
|
|
NM_023036.6(DNAI2):c.864+1G>T
|
rs1177965342
|
|
|
NM_023036.6(DNAI2):c.864+9C>T
|
rs1380145661
|
|
|
NM_023036.6(DNAI2):c.865-10C>T
|
rs2052731313
|
|
|
NM_023036.6(DNAI2):c.865-15C>G
|
rs201457679
|
|
|
NM_023036.6(DNAI2):c.865-15C>T
|
rs201457679
|
|
|
NM_023036.6(DNAI2):c.865-1G>C
|
rs776777011
|
|
|
NM_023036.6(DNAI2):c.865-5A>T
|
rs8076337
|
|
|
NM_023036.6(DNAI2):c.865-6_865-5inv
|
|
|
|
NM_023036.6(DNAI2):c.865-7C>A
|
rs1425961211
|
|
|
NM_023036.6(DNAI2):c.873G>A (p.Trp291Ter)
|
|
|
|
NM_023036.6(DNAI2):c.875G>A (p.Trp292Ter)
|
rs2509737683
|
|
|
NM_023036.6(DNAI2):c.876G>A (p.Trp292Ter)
|
rs1060502202
|
|
|
NM_023036.6(DNAI2):c.882C>A (p.Ile294=)
|
rs2052733311
|
|
|
NM_023036.6(DNAI2):c.892A>C (p.Ser298Arg)
|
rs2144035001
|
|
|
NM_023036.6(DNAI2):c.895del (p.Glu299fs)
|
rs2144035068
|
|
|
NM_023036.6(DNAI2):c.900_905del (p.Thr301_Glu302del)
|
rs2144035143
|
|
|
NM_023036.6(DNAI2):c.903T>C (p.Thr301=)
|
rs2144035167
|
|
|
NM_023036.6(DNAI2):c.90C>T (p.Asp30=)
|
rs2509681820
|
|
|
NM_023036.6(DNAI2):c.924C>A (p.Ile308=)
|
rs747748164
|
|
|
NM_023036.6(DNAI2):c.928A>T (p.Lys310Ter)
|
rs755714858
|
|
|
NM_023036.6(DNAI2):c.939G>A (p.Gln313=)
|
rs1182092488
|
|
|
NM_023036.6(DNAI2):c.951C>T (p.Ala317=)
|
rs772061154
|
|
|
NM_023036.6(DNAI2):c.954G>A (p.Leu318=)
|
|
|
|
NM_023036.6(DNAI2):c.957G>A (p.Gly319=)
|
rs2144035485
|
|
|
NM_023036.6(DNAI2):c.965C>A (p.Ser322Tyr)
|
rs2052738856
|
|
|
NM_023036.6(DNAI2):c.966C>G (p.Ser322=)
|
rs765353102
|
|
|
NM_023036.6(DNAI2):c.966C>T (p.Ser322=)
|
rs765353102
|
|
|
NM_023036.6(DNAI2):c.969G>C (p.Leu323=)
|
rs1306977536
|
|
|
NM_023036.6(DNAI2):c.973T>A (p.Phe325Ile)
|
rs2509738037
|
|
|
NM_023036.6(DNAI2):c.977A>G (p.Glu326Gly)
|
|
|
|
NM_023036.6(DNAI2):c.978A>G (p.Glu326=)
|
rs763193003
|
|
|
NM_023036.6(DNAI2):c.981T>C (p.Ser327=)
|
rs886038679
|
|
|
NM_023036.6(DNAI2):c.987+14dup
|
rs2509738138
|
|
|
NM_023036.6(DNAI2):c.987+9C>G
|
rs2144035707
|
|
|
NM_023036.6(DNAI2):c.988-10C>T
|
rs2144075152
|
|
|
NM_023036.6(DNAI2):c.999C>T (p.Phe333=)
|
|
|
|
NM_024867.4(SPEF2):c.2507+5del
|
rs1739374011
|
|
|
NM_024867.4(SPEF2):c.586C>T (p.Gln196Ter)
|
|
|
|
NM_031421.5(ODAD4):c.704dup (p.His235fs)
|
rs2544711824
|
|
|
NM_031427.4(DNAL1):c.*1823del
|
rs59065500
|
|
|
NM_031427.4(DNAL1):c.*1824del
|
rs886050695
|
|
|
NM_031427.4(DNAL1):c.*2018CTT[1]
|
rs562566868
|
|
|
NM_031427.4(DNAL1):c.*2570del
|
rs746527785
|
|
|
NM_031427.4(DNAL1):c.*3110_*3111dup
|
rs769560403
|
|
|
NM_031427.4(DNAL1):c.*334del
|
rs147394906
|
|
|
NM_031427.4(DNAL1):c.*3356del
|
rs529762916
|
|
|
NM_031427.4(DNAL1):c.*4427del
|
rs398025673
|
|
|
NM_031427.4(DNAL1):c.*6015_*6016del
|
rs10594595
|
|
|
NM_031427.4(DNAL1):c.*6016del
|
rs10594595
|
|
|
NM_031427.4(DNAL1):c.*6137del
|
rs886050714
|
|
|
NM_031427.4(DNAL1):c.*6138TG[10]
|
rs10679978
|
|
|
NM_031427.4(DNAL1):c.*6138TG[12]
|
rs10679978
|
|
|
NM_031427.4(DNAL1):c.*6138TG[14]
|
rs10679978
|
|
|
NM_031427.4(DNAL1):c.*6138TG[15]
|
rs10679978
|
|
|
NM_031427.4(DNAL1):c.*6138TG[16]
|
rs10679978
|
|
|
NM_031427.4(DNAL1):c.*6147_*6148insCG
|
rs886050719
|
|
|
NM_031427.4(DNAL1):c.*6163_*6164insTGCACG
|
rs1555340583
|
|
|
NM_031427.4(DNAL1):c.*6216dup
|
rs779734012
|
|
|
NM_031427.4(DNAL1):c.*6341_*6343del
|
rs886050724
|
|
|
NM_031427.4(DNAL1):c.*7017dup
|
rs367557905
|
|
|
NM_031427.4(DNAL1):c.*7414_*7419del
|
rs886050727
|
|
|
NM_031427.4(DNAL1):c.224_230del (p.Ile74_Leu75insTer)
|
rs876657637
|
|
|
NM_031427.4(DNAL1):c.23_24del (p.Lys8fs)
|
rs746219926
|
|
|
NM_032930.3(CFAP300):c.198_200delinsCC (p.Phe67fs)
|
rs1555069023
|
|
|
NM_033124.5(DRC2):c.1204G>A (p.Glu402Lys)
|
rs1008405856
|
|
|
NM_033124.5(DRC2):c.877_878del (p.Ile293fs)
|
rs863223325
|
|
|
NM_080860.4(RSPH1):c.109C>A (p.Arg37=)
|
rs142034904
|
|
|
NM_080860.4(RSPH1):c.123G>A (p.Gly41=)
|
|
|
|
NM_080860.4(RSPH1):c.132C>T (p.Tyr44=)
|
|
|
|
NM_080860.4(RSPH1):c.150C>T (p.Phe50=)
|
|
|
|
NM_080860.4(RSPH1):c.169-25_169-17del
|
rs2054249769
|
|
|
NM_080860.4(RSPH1):c.18G>C (p.Ser6=)
|
rs2517356414
|
|
|
NM_080860.4(RSPH1):c.195T>G (p.Ala65=)
|
|
|
|
NM_080860.4(RSPH1):c.1A>C (p.Met1Leu)
|
rs566463967
|
|
|
NM_080860.4(RSPH1):c.212A>G (p.Tyr71Cys)
|
rs1047978632
|
|
|
NM_080860.4(RSPH1):c.240C>T (p.Gly80=)
|
rs2054248887
|
|
|
NM_080860.4(RSPH1):c.253C>T (p.Pro85Ser)
|
rs2146664507
|
|
|
NM_080860.4(RSPH1):c.274+13C>G
|
rs2517351413
|
|
|
NM_080860.4(RSPH1):c.274+15C>T
|
|
|
|
NM_080860.4(RSPH1):c.274+19G>A
|
|
|
|
NM_080860.4(RSPH1):c.281G>A (p.Trp94Ter)
|
rs587777635
|
|
|
NM_080860.4(RSPH1):c.287_305dup (p.His102delinsGlnTer)
|
rs2054181752
|
|
|
NM_080860.4(RSPH1):c.287dup (p.Asn96fs)
|
rs1060501861
|
|
|
NM_080860.4(RSPH1):c.291C>T (p.Asp97=)
|
|
|
|
NM_080860.4(RSPH1):c.317A>G (p.Tyr106Cys)
|
rs2054181407
|
|
|
NM_080860.4(RSPH1):c.330T>C (p.Asn110=)
|
|
|
|
NM_080860.4(RSPH1):c.340A>G (p.Thr114Ala)
|
rs764166547
|
|
|
NM_080860.4(RSPH1):c.365+10C>T
|
rs962821435
|
|
|
NM_080860.4(RSPH1):c.365+18G>C
|
|
|
|
NM_080860.4(RSPH1):c.365+2T>C
|
|
|
|
NM_080860.4(RSPH1):c.372G>A (p.Gly124=)
|
rs372869939
|
|
|
NM_080860.4(RSPH1):c.390C>A (p.Tyr130Ter)
|
rs529633380
|
|
|
NM_080860.4(RSPH1):c.39A>T (p.Gly13=)
|
rs2054286476
|
|
|
NM_080860.4(RSPH1):c.408G>A (p.Lys136=)
|
|
|
|
NM_080860.4(RSPH1):c.412G>A (p.Val138Ile)
|
rs747184332
|
|
|
NM_080860.4(RSPH1):c.470A>G (p.His157Arg)
|
rs1226405216
|
|
|
NM_080860.4(RSPH1):c.501+11G>A
|
|
|
|
NM_080860.4(RSPH1):c.501+13G>A
|
rs2054172335
|
|
|
NM_080860.4(RSPH1):c.501+17T>C
|
rs755847191
|
|
|
NM_080860.4(RSPH1):c.502-1G>A
|
rs2517340869
|
|
|
NM_080860.4(RSPH1):c.534T>G (p.Val178=)
|
|
|
|
NM_080860.4(RSPH1):c.549T>C (p.His183=)
|
rs780989649
|
|
|
NM_080860.4(RSPH1):c.55-4C>G
|
rs1196582041
|
|
|
NM_080860.4(RSPH1):c.55-5C>A
|
rs756723653
|
|
|
NM_080860.4(RSPH1):c.563T>G (p.Leu188Ter)
|
rs727503394
|
|
|
NM_080860.4(RSPH1):c.573+1_573+17del
|
rs1064792947
|
|
|
NM_080860.4(RSPH1):c.598G>A (p.Glu200Lys)
|
rs2517333713
|
|
|
NM_080860.4(RSPH1):c.624A>G (p.Lys208=)
|
rs1168301982
|
|
|
NM_080860.4(RSPH1):c.634dup (p.Thr212fs)
|
rs2517333595
|
|
|
NM_080860.4(RSPH1):c.637C>A (p.Gln213Lys)
|
rs146298259
|
|
|
NM_080860.4(RSPH1):c.638A>C (p.Gln213Pro)
|
rs1403144349
|
|
|
NM_080860.4(RSPH1):c.648A>G (p.Glu216=)
|
rs2054078510
|
|
|
NM_080860.4(RSPH1):c.655C>T (p.Leu219=)
|
rs1267923146
|
|
|
NM_080860.4(RSPH1):c.655del (p.Leu219fs)
|
rs767700639
|
|
|
NM_080860.4(RSPH1):c.655dup (p.Leu219fs)
|
|
|
|
NM_080860.4(RSPH1):c.670C>G (p.Leu224Val)
|
rs375795708
|
|
|
NM_080860.4(RSPH1):c.670C>T (p.Leu224Phe)
|
rs375795708
|
|
|
NM_080860.4(RSPH1):c.680dup (p.Pro228fs)
|
rs556286752
|
|
|
NM_080860.4(RSPH1):c.695A>T (p.Asp232Val)
|
rs748503692
|
|
|
NM_080860.4(RSPH1):c.6G>C (p.Ser2=)
|
rs148682611
|
|
|
NM_080860.4(RSPH1):c.709G>A (p.Asp237Asn)
|
rs368695982
|
|
|
NM_080860.4(RSPH1):c.712G>A (p.Ala238Thr)
|
rs200745905
|
|
|
NM_080860.4(RSPH1):c.712G>C (p.Ala238Pro)
|
rs200745905
|
|
|
NM_080860.4(RSPH1):c.727+11C>T
|
rs201392587
|
|
|
NM_080860.4(RSPH1):c.727+11_727+83del
|
rs1568959107
|
|
|
NM_080860.4(RSPH1):c.727+18_727+19insGGGCACCCCCGGGTGTGGGGTGGAGGGGGCAGAGGGTGTA
|
rs759033826
|
|
|
NM_080860.4(RSPH1):c.727+6G>A
|
rs374688679
|
|
|
NM_080860.4(RSPH1):c.727+6G>C
|
rs374688679
|
|
|
NM_080860.4(RSPH1):c.727+84T>C
|
|
|
|
NM_080860.4(RSPH1):c.727_727+138del
|
rs1555875358
|
|
|
NM_080860.4(RSPH1):c.728-20T>G
|
rs780208062
|
|
|
NM_080860.4(RSPH1):c.748G>A (p.Glu250Lys)
|
rs1057278008
|
|
|
NM_080860.4(RSPH1):c.751G>T (p.Ala251Ser)
|
rs2517329617
|
|
|
NM_080860.4(RSPH1):c.771C>T (p.Gly257=)
|
|
|
|
NM_080860.4(RSPH1):c.788A>G (p.Asp263Gly)
|
rs2054043796
|
|
|
NM_080860.4(RSPH1):c.790_791del (p.Met264fs)
|
rs2517329452
|
|
|
NM_080860.4(RSPH1):c.795G>A (p.Arg265=)
|
rs2054043655
|
|
|
NM_080860.4(RSPH1):c.812C>A (p.Ala271Glu)
|
rs2517329348
|
|
|
NM_080860.4(RSPH1):c.816C>T (p.Asp272=)
|
rs770971275
|
|
|
NM_080860.4(RSPH1):c.819C>T (p.Val273=)
|
rs1555875193
|
|
|
NM_080860.4(RSPH1):c.837G>A (p.Arg279=)
|
|
|
|
NM_080860.4(RSPH1):c.847C>T (p.Gln283Ter)
|
rs2054042523
|
|
|
NM_080860.4(RSPH1):c.850GAG[1] (p.Glu285del)
|
rs562822292
|
|
|
NM_080860.4(RSPH1):c.877+19G>A
|
|
|
|
NM_080860.4(RSPH1):c.877+1G>A
|
|
|
|
NM_080860.4(RSPH1):c.912G>A (p.Gln304=)
|
rs2517324726
|
|
|
NM_130810.3(DNAAF4):c.1048-149_*1048del
|
|
|
|
NM_130810.3(DNAAF4):c.784-?_893+?del
|
|
|
|
NM_130810.4(DNAAF4):c.523del (p.Ile175fs)
|
rs751610886
|
|
|
NM_130810.4(DNAAF4):c.784-1037_894-2012del
|
|
|
|
NM_139285.4(GAS2L2):c.887_890del (p.Val296fs)
|
rs587633197
|
|
|
NM_145038.5(DRC1):c.1008G>A (p.Gln336=)
|
rs562545293
|
|
|
NM_145038.5(DRC1):c.1009C>T (p.Gln337Ter)
|
rs1435637520
|
|
|
NM_145038.5(DRC1):c.1013del (p.Lys338fs)
|
rs1663691728
|
|
|
NM_145038.5(DRC1):c.1028+10C>G
|
rs1663692485
|
|
|
NM_145038.5(DRC1):c.1028+11A>G
|
|
|
|
NM_145038.5(DRC1):c.1029-4C>G
|
rs2148000514
|
|
|
NM_145038.5(DRC1):c.1029-4C>T
|
rs2148000514
|
|
|
NM_145038.5(DRC1):c.1066_1067delinsAT (p.Ala356Ile)
|
rs1572379809
|
|
|
NM_145038.5(DRC1):c.1068_1069inv (p.Lys357Glu)
|
|
|
|
NM_145038.5(DRC1):c.106_120dup (p.Ile36_Arg40dup)
|
rs1678261374
|
|
|
NM_145038.5(DRC1):c.1090GAG[1] (p.Glu365del)
|
rs765070685
|
|
|
NM_145038.5(DRC1):c.109dup (p.Gln37fs)
|
rs750136163
|
|
|
NM_145038.5(DRC1):c.1110C>G (p.Thr370=)
|
rs1375972064
|
|
|
NM_145038.5(DRC1):c.1123C>A (p.Arg375Ser)
|
rs145305515
|
|
|
NM_145038.5(DRC1):c.1146G>A (p.Glu382=)
|
|
|
|
NM_145038.5(DRC1):c.1151A>C (p.Gln384Pro)
|
rs1663796271
|
|
|
NM_145038.5(DRC1):c.115C>G (p.Arg39Gly)
|
rs778388067
|
|
|
NM_145038.5(DRC1):c.1160T>G (p.Met387Arg)
|
rs1663796438
|
|
|
NM_145038.5(DRC1):c.1163+20C>T
|
|
|
|
NM_145038.5(DRC1):c.1164-17G>A
|
|
|
|
NM_145038.5(DRC1):c.1164-19C>T
|
|
|
|
NM_145038.5(DRC1):c.1188G>T (p.Glu396Asp)
|
rs374257901
|
|
|
NM_145038.5(DRC1):c.1195_1196inv (p.Trp399Gln)
|
|
|
|
NM_145038.5(DRC1):c.1206G>C (p.Trp402Cys)
|
rs2465429847
|
|
|
NM_145038.5(DRC1):c.1207C>T (p.Leu403=)
|
rs2465429850
|
|
|
NM_145038.5(DRC1):c.1221G>A (p.Glu407=)
|
rs2465429876
|
|
|
NM_145038.5(DRC1):c.1263G>C (p.Arg421Ser)
|
rs778963656
|
|
|
NM_145038.5(DRC1):c.1281T>C (p.His427=)
|
rs528460521
|
|
|
NM_145038.5(DRC1):c.1284G>A (p.Leu428=)
|
rs2465430179
|
|
|
NM_145038.5(DRC1):c.1325del (p.Asn442fs)
|
rs1663812465
|
|
|
NM_145038.5(DRC1):c.1329T>C (p.Val443=)
|
rs2465430333
|
|
|
NM_145038.5(DRC1):c.1338T>G (p.Ile446Met)
|
rs150721188
|
|
|
NM_145038.5(DRC1):c.134C>T (p.Ala45Val)
|
rs779282480
|
|
|
NM_145038.5(DRC1):c.1366C>A (p.Gln456Lys)
|
rs777051751
|
|
|
NM_145038.5(DRC1):c.1369A>T (p.Ile457Leu)
|
rs1414998432
|
|
|
NM_145038.5(DRC1):c.1394C>T (p.Ser465Leu)
|
|
|
|
NM_145038.5(DRC1):c.1397-16_1397-15inv
|
|
|
|
NM_145038.5(DRC1):c.1418C>A (p.Ala473Asp)
|
rs199574440
|
|
|
NM_145038.5(DRC1):c.1434G>T (p.Glu478Asp)
|
rs759743934
|
|
|
NM_145038.5(DRC1):c.1448T>C (p.Leu483Ser)
|
rs1663924677
|
|
|
NM_145038.5(DRC1):c.1452G>A (p.Pro484=)
|
rs1417232935
|
|
|
NM_145038.5(DRC1):c.145G>T (p.Ala49Ser)
|
rs771727269
|
|
|
NM_145038.5(DRC1):c.1461T>C (p.Ile487=)
|
rs1167700043
|
|
|
NM_145038.5(DRC1):c.1470A>G (p.Lys490=)
|
rs752867731
|
|
|
NM_145038.5(DRC1):c.1471del (p.Thr491fs)
|
rs2148003690
|
|
|
NM_145038.5(DRC1):c.1487T>G (p.Leu496Arg)
|
rs2148003720
|
|
|
NM_145038.5(DRC1):c.148C>A (p.Arg50=)
|
|
|
|
NM_145038.5(DRC1):c.1503_1505del (p.Asp501del)
|
rs778078856
|
|
|
NM_145038.5(DRC1):c.1509+10G>A
|
rs947858109
|
|
|
NM_145038.5(DRC1):c.1510-18C>T
|
|
|
|
NM_145038.5(DRC1):c.1511G>A (p.Gly504Glu)
|
rs2148004449
|
|
|
NM_145038.5(DRC1):c.1511_1512delinsTA (p.Gly504Val)
|
rs2148004453
|
|
|
NM_145038.5(DRC1):c.1518C>T (p.Leu506=)
|
rs764466794
|
|
|
NM_145038.5(DRC1):c.1524G>C (p.Glu508Asp)
|
rs753664425
|
|
|
NM_145038.5(DRC1):c.153G>A (p.Arg51=)
|
rs1572346150
|
|
|
NM_145038.5(DRC1):c.1548G>A (p.Leu516=)
|
|
|
|
NM_145038.5(DRC1):c.155+12G>C
|
rs759817036
|
|
|
NM_145038.5(DRC1):c.1553del (p.Leu518fs)
|
|
|
|
NM_145038.5(DRC1):c.155G>T (p.Arg52Leu)
|
rs1341994586
|
|
|
NM_145038.5(DRC1):c.156-7A>C
|
rs1016897921
|
|
|
NM_145038.5(DRC1):c.1599+11C>T
|
rs368679300
|
|
|
NM_145038.5(DRC1):c.1600-3dup
|
rs757359333
|
|
|
NM_145038.5(DRC1):c.1600-5C>T
|
|
|
|
NM_145038.5(DRC1):c.1612G>A (p.Glu538Lys)
|
rs2465444986
|
|
|
NM_145038.5(DRC1):c.1631A>G (p.Tyr544Cys)
|
rs775900881
|
|
|
NM_145038.5(DRC1):c.1650C>T (p.Phe550=)
|
rs1291985624
|
|
|
NM_145038.5(DRC1):c.1679C>T (p.Ser560Phe)
|
rs1663980286
|
|
|
NM_145038.5(DRC1):c.1684C>T (p.Leu562Phe)
|
|
|
|
NM_145038.5(DRC1):c.1689+10G>A
|
|
|
|
NM_145038.5(DRC1):c.1689+11G>A
|
rs749549034
|
|
|
NM_145038.5(DRC1):c.1689+12T>G
|
rs1170750643
|
|
|
NM_145038.5(DRC1):c.1690-10C>T
|
rs778847128
|
|
|
NM_145038.5(DRC1):c.1690-17C>G
|
rs749441513
|
|
|
NM_145038.5(DRC1):c.1690-17C>T
|
rs749441513
|
|
|
NM_145038.5(DRC1):c.169G>C (p.Glu57Gln)
|
rs1311428069
|
|
|
NM_145038.5(DRC1):c.1720_1734del (p.Lys574_Glu578del)
|
rs878855222
|
|
|
NM_145038.5(DRC1):c.1746G>C (p.Thr582=)
|
rs148569358
|
|
|
NM_145038.5(DRC1):c.174T>C (p.Tyr58=)
|
rs780737842
|
|
|
NM_145038.5(DRC1):c.1751C>G (p.Ser584Ter)
|
|
|
|
NM_145038.5(DRC1):c.1756T>C (p.Leu586=)
|
rs752596409
|
|
|
NM_145038.5(DRC1):c.1801A>C (p.Ser601Arg)
|
rs1664059066
|
|
|
NM_145038.5(DRC1):c.1816_1818del (p.Glu606del)
|
rs2465451261
|
|
|
NM_145038.5(DRC1):c.1825G>A (p.Glu609Lys)
|
rs1664060049
|
|
|
NM_145038.5(DRC1):c.1839C>T (p.Thr613=)
|
rs1299185967
|
|
|
NM_145038.5(DRC1):c.1841C>T (p.Pro614Leu)
|
rs1664060879
|
|
|
NM_145038.5(DRC1):c.1849C>T (p.Pro617Ser)
|
rs1664062937
|
|
|
NM_145038.5(DRC1):c.1887G>A (p.Leu629=)
|
rs2465451588
|
|
|
NM_145038.5(DRC1):c.1897G>A (p.Val633Ile)
|
rs12623642
|
|
|
NM_145038.5(DRC1):c.1919G>A (p.Arg640Lys)
|
rs1428226382
|
|
|
NM_145038.5(DRC1):c.1920-13T>C
|
rs1412204139
|
|
|
NM_145038.5(DRC1):c.1920-14C>T
|
rs1423875160
|
|
|
NM_145038.5(DRC1):c.1920-15G>A
|
rs2465454201
|
|
|
NM_145038.5(DRC1):c.1920-20A>G
|
rs749609381
|
|
|
NM_145038.5(DRC1):c.1925C>A (p.Ser642Ter)
|
|
|
|
NM_145038.5(DRC1):c.1927C>T (p.Arg643Trp)
|
|
|
|
NM_145038.5(DRC1):c.1935G>C (p.Pro645=)
|
rs561986345
|
|
|
NM_145038.5(DRC1):c.1941G>C (p.Arg647Ser)
|
|
|
|
NM_145038.5(DRC1):c.1946A>C (p.Gln649Pro)
|
rs1465586403
|
|
|
NM_145038.5(DRC1):c.1955T>G (p.Val652Gly)
|
rs752777750
|
|
|
NM_145038.5(DRC1):c.1957C>T (p.Arg653Cys)
|
rs139106371
|
|
|
NM_145038.5(DRC1):c.195T>C (p.Ser65=)
|
|
|
|
NM_145038.5(DRC1):c.1967C>T (p.Ser656Phe)
|
rs2148007712
|
|
|
NM_145038.5(DRC1):c.2014T>C (p.Ser672Pro)
|
rs200927965
|
|
|
NM_145038.5(DRC1):c.2037C>A (p.Ala679=)
|
rs759791684
|
|
|
NM_145038.5(DRC1):c.2045C>T (p.Thr682Ile)
|
rs377090460
|
|
|
NM_145038.5(DRC1):c.2049C>G (p.Ala683=)
|
rs2148007800
|
|
|
NM_145038.5(DRC1):c.2064-17G>A
|
rs1558457935
|
|
|
NM_145038.5(DRC1):c.2068G>A (p.Val690Ile)
|
rs1553345147
|
|
|
NM_145038.5(DRC1):c.2079_2086del (p.Arg694fs)
|
rs1558457993
|
|
|
NM_145038.5(DRC1):c.2081G>C (p.Arg694Thr)
|
rs372797665
|
|
|
NM_145038.5(DRC1):c.2102A>G (p.Asn701Ser)
|
rs1463332900
|
|
|
NM_145038.5(DRC1):c.2135A>G (p.Gln712Arg)
|
|
|
|
NM_145038.5(DRC1):c.2140C>A (p.Leu714Ile)
|
rs1572389551
|
|
|
NM_145038.5(DRC1):c.2166+10G>T
|
rs368470989
|
|
|
NM_145038.5(DRC1):c.2166+11G>T
|
rs765196304
|
|
|
NM_145038.5(DRC1):c.2167-20T>A
|
rs1344338151
|
|
|
NM_145038.5(DRC1):c.2167-9C>G
|
|
|
|
NM_145038.5(DRC1):c.2172C>T (p.Asn724=)
|
rs1325850441
|
|
|
NM_145038.5(DRC1):c.2183A>T (p.Gln728Leu)
|
rs2148010186
|
|
|
NM_145038.5(DRC1):c.218A>G (p.Tyr73Cys)
|
rs2465359374
|
|
|
NM_145038.5(DRC1):c.2190_2193dup (p.Thr732fs)
|
rs763631774
|
|
|
NM_145038.5(DRC1):c.2202G>T (p.Val734=)
|
rs768929345
|
|
|
NM_145038.5(DRC1):c.220A>C (p.Lys74Gln)
|
rs776739782
|
|
|
NM_145038.5(DRC1):c.239G>A (p.Arg80Gln)
|
rs148643291
|
|
|
NM_145038.5(DRC1):c.243+10G>C
|
rs1342111382
|
|
|
NM_145038.5(DRC1):c.243+9T>C
|
rs1476611473
|
|
|
NM_145038.5(DRC1):c.244-14dup
|
rs2465374776
|
|
|
NM_145038.5(DRC1):c.252T>C (p.Ala84=)
|
|
|
|
NM_145038.5(DRC1):c.306T>C (p.Asp102=)
|
|
|
|
NM_145038.5(DRC1):c.320A>G (p.His107Arg)
|
rs1663137062
|
|
|
NM_145038.5(DRC1):c.33C>T (p.Asp11=)
|
|
|
|
NM_145038.5(DRC1):c.356+3A>G
|
rs1572361252
|
|
|
NM_145038.5(DRC1):c.357-15T>A
|
rs1188964676
|
|
|
NM_145038.5(DRC1):c.357-2A>G
|
rs2465381819
|
|
|
NM_145038.5(DRC1):c.367C>T (p.Leu123=)
|
rs1378377620
|
|
|
NM_145038.5(DRC1):c.379G>T (p.Val127Phe)
|
rs1199545365
|
|
|
NM_145038.5(DRC1):c.391C>T (p.Gln131Ter)
|
rs2465381898
|
|
|
NM_145038.5(DRC1):c.396C>A (p.Asp132Glu)
|
rs770549722
|
|
|
NM_145038.5(DRC1):c.39C>A (p.Asn13Lys)
|
rs757114521
|
|
|
NM_145038.5(DRC1):c.409A>G (p.Ile137Val)
|
rs1333711600
|
|
|
NM_145038.5(DRC1):c.411C>A (p.Ile137=)
|
rs2465381963
|
|
|
NM_145038.5(DRC1):c.418A>C (p.Lys140Gln)
|
rs201245045
|
|
|
NM_145038.5(DRC1):c.427G>T (p.Glu143Ter)
|
rs1663226917
|
|
|
NM_145038.5(DRC1):c.446T>C (p.Ile149Thr)
|
|
|
|
NM_145038.5(DRC1):c.456G>A (p.Glu152=)
|
|
|
|
NM_145038.5(DRC1):c.471C>T (p.Leu157=)
|
rs1663228984
|
|
|
NM_145038.5(DRC1):c.479A>C (p.Gln160Pro)
|
rs762794275
|
|
|
NM_145038.5(DRC1):c.494_495delinsTG (p.Ala165Val)
|
rs1572363707
|
|
|
NM_145038.5(DRC1):c.495T>A (p.Ala165=)
|
rs7423300
|
|
|
NM_145038.5(DRC1):c.495T>G (p.Ala165=)
|
rs7423300
|
|
|
NM_145038.5(DRC1):c.513_515del (p.Lys171del)
|
rs773138367
|
|
|
NM_145038.5(DRC1):c.537G>A (p.Gln179=)
|
rs2147987459
|
|
|
NM_145038.5(DRC1):c.540+11C>T
|
|
|
|
NM_145038.5(DRC1):c.541-4C>G
|
|
|
|
NM_145038.5(DRC1):c.5A>T (p.Asn2Ile)
|
rs2465338579
|
|
|
NM_145038.5(DRC1):c.616C>T (p.Arg206Trp)
|
rs1160786100
|
|
|
NM_145038.5(DRC1):c.636G>A (p.Lys212=)
|
|
|
|
NM_145038.5(DRC1):c.673dup (p.Ile225fs)
|
rs1663384249
|
|
|
NM_145038.5(DRC1):c.674T>A (p.Ile225Asn)
|
rs756459461
|
|
|
NM_145038.5(DRC1):c.678+8G>A
|
rs1558443964
|
|
|
NM_145038.5(DRC1):c.686T>C (p.Phe229Ser)
|
rs2147991541
|
|
|
NM_145038.5(DRC1):c.712G>T (p.Ala238Ser)
|
rs1663414723
|
|
|
NM_145038.5(DRC1):c.717T>C (p.Ser239=)
|
rs772316882
|
|
|
NM_145038.5(DRC1):c.765+19C>G
|
rs1482151091
|
|
|
NM_145038.5(DRC1):c.766-6C>A
|
|
|
|
NM_145038.5(DRC1):c.777T>G (p.Leu259=)
|
|
|
|
NM_145038.5(DRC1):c.793A>C (p.Lys265Gln)
|
rs2465399324
|
|
|
NM_145038.5(DRC1):c.870G>A (p.Lys290=)
|
rs765263654
|
|
|
NM_145038.5(DRC1):c.87C>G (p.Ser29=)
|
rs768704103
|
|
|
NM_145038.5(DRC1):c.888+9G>A
|
|
|
|
NM_145038.5(DRC1):c.889-15T>C
|
rs773063930
|
|
|
NM_145038.5(DRC1):c.889-9dup
|
rs746818380
|
|
|
NM_145038.5(DRC1):c.985G>A (p.Glu329Lys)
|
rs1060501406
|
|
|
NM_145038.5(DRC1):c.9G>T (p.Pro3=)
|
rs950686026
|
|
|
NM_145045.5(ODAD3):c.1021G>T (p.Ala341Ser)
|
rs1408368135
|
|
|
NM_145045.5(ODAD3):c.514G>C (p.Val172Leu)
|
rs1969393130
|
|
|
NM_152327.5(AK7):c.1171dup (p.Tyr391fs)
|
rs587777029
|
|
|
NM_152732.5(RSPH9):c.118C>G (p.Arg40Gly)
|
rs937089073
|
|
|
NM_152732.5(RSPH9):c.122A>G (p.Tyr41Cys)
|
rs2532698261
|
|
|
NM_152732.5(RSPH9):c.124G>C (p.Asp42His)
|
rs1197738235
|
|
|
NM_152732.5(RSPH9):c.129G>T (p.Arg43=)
|
rs562835719
|
|
|
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.157_174del (p.Leu53_Tyr58del)
|
|
|
|
NM_152732.5(RSPH9):c.159C>G (p.Leu53=)
|
rs145929923
|
|
|
NM_152732.5(RSPH9):c.191G>A (p.Ser64Asn)
|
rs1770719497
|
|
|
NM_152732.5(RSPH9):c.1A>G (p.Met1Val)
|
rs775745422
|
|
|
NM_152732.5(RSPH9):c.200del (p.Gln67fs)
|
rs1582373132
|
|
|
NM_152732.5(RSPH9):c.205G>T (p.Ala69Ser)
|
rs1477090977
|
|
|
NM_152732.5(RSPH9):c.227+14C>T
|
rs1381638744
|
|
|
NM_152732.5(RSPH9):c.227+14dup
|
rs1366660609
|
|
|
NM_152732.5(RSPH9):c.228-6T>A
|
rs775136764
|
|
|
NM_152732.5(RSPH9):c.239C>T (p.Thr80Ile)
|
rs1235868570
|
|
|
NM_152732.5(RSPH9):c.244del (p.Trp82fs)
|
rs2127891310
|
|
|
NM_152732.5(RSPH9):c.24_25delinsTG (p.Ser9Ala)
|
rs2532697245
|
|
|
NM_152732.5(RSPH9):c.25T>C (p.Ser9Pro)
|
rs767450427
|
|
|
NM_152732.5(RSPH9):c.271G>C (p.Glu91Gln)
|
rs2127891420
|
|
|
NM_152732.5(RSPH9):c.274A>C (p.Met92Leu)
|
|
|
|
NM_152732.5(RSPH9):c.27T>C (p.Ser9=)
|
rs2532697280
|
|
|
NM_152732.5(RSPH9):c.283C>T (p.Gln95Ter)
|
rs1436804091
|
|
|
NM_152732.5(RSPH9):c.290C>T (p.Ser97Phe)
|
rs2532732769
|
|
|
NM_152732.5(RSPH9):c.304C>T (p.Arg102Cys)
|
|
|
|
NM_152732.5(RSPH9):c.312G>C (p.Met104Ile)
|
rs2127891583
|
|
|
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.389T>C (p.Ile130Thr)
|
rs935743330
|
|
|
NM_152732.5(RSPH9):c.393+1G>A
|
rs1054247330
|
|
|
NM_152732.5(RSPH9):c.393+2del
|
rs1771335561
|
|
|
NM_152732.5(RSPH9):c.401T>C (p.Ile134Thr)
|
rs2532769510
|
|
|
NM_152732.5(RSPH9):c.405G>A (p.Lys135=)
|
rs770421799
|
|
|
NM_152732.5(RSPH9):c.406G>C (p.Glu136Gln)
|
rs1771919718
|
|
|
NM_152732.5(RSPH9):c.416G>A (p.Arg139His)
|
rs142363099
|
|
|
NM_152732.5(RSPH9):c.445A>G (p.Lys149Glu)
|
rs2532769792
|
|
|
NM_152732.5(RSPH9):c.447G>T (p.Lys149Asn)
|
rs762167888
|
|
|
NM_152732.5(RSPH9):c.449C>T (p.Ala150Val)
|
rs1256083922
|
|
|
NM_152732.5(RSPH9):c.458T>C (p.Ile153Thr)
|
rs756161521
|
|
|
NM_152732.5(RSPH9):c.459C>A (p.Ile153=)
|
rs1384812452
|
|
|
NM_152732.5(RSPH9):c.464C>T (p.Pro155Leu)
|
rs2532769972
|
|
|
NM_152732.5(RSPH9):c.492T>C (p.Phe164=)
|
rs1771925212
|
|
|
NM_152732.5(RSPH9):c.511C>T (p.Arg171Trp)
|
|
|
|
NM_152732.5(RSPH9):c.523+10C>G
|
|
|
|
NM_152732.5(RSPH9):c.523+19C>T
|
|
|
|
NM_152732.5(RSPH9):c.523+1G>C
|
rs762292335
|
|
|
NM_152732.5(RSPH9):c.574del (p.Glu192fs)
|
rs2127911266
|
|
|
NM_152732.5(RSPH9):c.577C>G (p.Pro193Ala)
|
rs373236553
|
|
|
NM_152732.5(RSPH9):c.577C>T (p.Pro193Ser)
|
rs373236553
|
|
|
NM_152732.5(RSPH9):c.591_593del (p.Lys197del)
|
rs776840532
|
|
|
NM_152732.5(RSPH9):c.596A>T (p.Lys199Met)
|
rs1772075736
|
|
|
NM_152732.5(RSPH9):c.605T>G (p.Leu202Arg)
|
rs763847806
|
|
|
NM_152732.5(RSPH9):c.631C>T (p.Leu211=)
|
|
|
|
NM_152732.5(RSPH9):c.668A>C (p.Lys223Thr)
|
rs772608546
|
|
|
NM_152732.5(RSPH9):c.668A>G (p.Lys223Arg)
|
rs772608546
|
|
|
NM_152732.5(RSPH9):c.670+16C>T
|
|
|
|
NM_152732.5(RSPH9):c.671-4T>G
|
rs548178595
|
|
|
NM_152732.5(RSPH9):c.678G>T (p.Trp226Cys)
|
|
|
|
NM_152732.5(RSPH9):c.693G>A (p.Glu231=)
|
rs2532864194
|
|
|
NM_152732.5(RSPH9):c.696G>A (p.Arg232=)
|
|
|
|
NM_152732.5(RSPH9):c.717G>T (p.Leu239=)
|
rs2532864529
|
|
|
NM_152732.5(RSPH9):c.72T>G (p.Arg24=)
|
rs2532697739
|
|
|
NM_152732.5(RSPH9):c.745_746delinsAC (p.Phe249Thr)
|
rs2532864838
|
|
|
NM_152732.5(RSPH9):c.759C>T (p.Pro253=)
|
|
|
|
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.795T>C (p.Thr265=)
|
rs746873706
|
|
|
NM_152732.5(RSPH9):c.799G>A (p.Glu267Lys)
|
rs1554149875
|
|
|
NM_152732.5(RSPH9):c.799G>T (p.Glu267Ter)
|
rs1554149875
|
|
|
NM_152732.5(RSPH9):c.801GAA[1] (p.Lys268del)
|
rs397515340
|
|
|
NM_152732.5(RSPH9):c.805A>G (p.Asn269Asp)
|
rs2532865425
|
|
|
NM_152732.5(RSPH9):c.808A>C (p.Met270Leu)
|
rs769366839
|
|
|
NM_152732.5(RSPH9):c.813C>T (p.Asp271=)
|
rs763528022
|
|
|
NM_152732.5(RSPH9):c.825G>A (p.Met275Ile)
|
|
|
|
NM_152732.5(RSPH9):c.830A>G (p.Ter277Trp)
|
|
|
|
NM_152732.5(RSPH9):c.95T>C (p.Leu32Pro)
|
rs1182940646
|
|
|
NM_152732.5(RSPH9):c.9C>G (p.Ala3=)
|
rs1455697260
|
|
|
NM_153614.4(DNAJB13):c.106T>G (p.Ser36Ala)
|
rs144741417
|
|
|
NM_173494.2(DNAAF6):c.332+1G>A
|
rs2147829163
|
|
|
NM_178452.4(DNAAF1):c.(?_-181)_(*77_?)del
|
|
|
|
NM_178452.5(DNAAF1):c.-146G>C
|
rs886052362
|
|
|
NM_178452.5(DNAAF1):c.1306_1307ins156
|
|
|
|
NM_178452.6(DNAAF1):c.*43_*46del
|
rs771825223
|
|
|
NM_178452.6(DNAAF1):c.1015G>C (p.Glu339Gln)
|
rs755873006
|
|
|
NM_178452.6(DNAAF1):c.1018_1019del (p.Gln341fs)
|
rs1567555007
|
|
|
NM_178452.6(DNAAF1):c.102A>G (p.Ala34=)
|
|
|
|
NM_178452.6(DNAAF1):c.1030+19A>C
|
|
|
|
NM_178452.6(DNAAF1):c.1030+7G>A
|
rs375123598
|
|
|
NM_178452.6(DNAAF1):c.1030+8C>T
|
rs2151253101
|
|
|
NM_178452.6(DNAAF1):c.1031-11T>G
|
rs200286840
|
|
|
NM_178452.6(DNAAF1):c.1031-18T>C
|
|
|
|
NM_178452.6(DNAAF1):c.1032G>A (p.Gly344=)
|
rs779134079
|
|
|
NM_178452.6(DNAAF1):c.1040C>G (p.Thr347Arg)
|
rs771177373
|
|
|
NM_178452.6(DNAAF1):c.1041A>G (p.Thr347=)
|
|
|
|
NM_178452.6(DNAAF1):c.1059G>C (p.Glu353Asp)
|
|
|
|
NM_178452.6(DNAAF1):c.105C>T (p.Gly35=)
|
rs745355772
|
|
|
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.1197G>A (p.Pro399=)
|
rs775507447
|
|
|
NM_178452.6(DNAAF1):c.1197G>T (p.Pro399=)
|
rs775507447
|
|
|
NM_178452.6(DNAAF1):c.1205A>G (p.Glu402Gly)
|
|
|
|
NM_178452.6(DNAAF1):c.120G>C (p.Lys40Asn)
|
rs766876325
|
|
|
NM_178452.6(DNAAF1):c.124+12C>T
|
rs375586546
|
|
|
NM_178452.6(DNAAF1):c.124+6G>A
|
rs1479123454
|
|
|
NM_178452.6(DNAAF1):c.1240G>C (p.Gly414Arg)
|
rs766064232
|
|
|
NM_178452.6(DNAAF1):c.1243A>G (p.Thr415Ala)
|
|
|
|
NM_178452.6(DNAAF1):c.1243A>T (p.Thr415Ser)
|
rs764480347
|
|
|
NM_178452.6(DNAAF1):c.1252G>T (p.Ala418Ser)
|
rs2151265896
|
|
|
NM_178452.6(DNAAF1):c.1258_1335del (p.Thr420_Glu445del)
|
rs1555525141
|
|
|
NM_178452.6(DNAAF1):c.1264C>G (p.Leu422Val)
|
rs1029522235
|
|
|
NM_178452.6(DNAAF1):c.1299_1376dup (p.Gly436_Asp461dup)
|
rs2088246526
|
|
|
NM_178452.6(DNAAF1):c.1300_1322del (p.Gly434fs)
|
rs745495583
|
|
|
NM_178452.6(DNAAF1):c.1302A>T (p.Gly434=)
|
rs1033113310
|
|
|
NM_178452.6(DNAAF1):c.1311G>C (p.Glu437Asp)
|
rs2507470388
|
|
|
NM_178452.6(DNAAF1):c.1320G>C (p.Gly440=)
|
rs1555525241
|
|
|
NM_178452.6(DNAAF1):c.1325T>A (p.Leu442His)
|
rs2151266342
|
|
|
NM_178452.6(DNAAF1):c.1328C>A (p.Pro443Gln)
|
rs1242687898
|
|
|
NM_178452.6(DNAAF1):c.1343C>G (p.Pro448Arg)
|
|
|
|
NM_178452.6(DNAAF1):c.1347_1502dup (p.Pro452_Pro503dup)
|
rs2088249327
|
|
|
NM_178452.6(DNAAF1):c.1349dup (p.Pro451fs)
|
rs397515339
|
|
|
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.1379G>T (p.Gly460Val)
|
rs2088254831
|
|
|
NM_178452.6(DNAAF1):c.1414_1491del (p.Thr472_Glu497del)
|
rs2088255429
|
|
|
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.1450G>T (p.Glu484Ter)
|
|
|
|
NM_178452.6(DNAAF1):c.1455T>C (p.Asp485=)
|
rs1205285192
|
|
|
NM_178452.6(DNAAF1):c.1458A>C (p.Gly486=)
|
|
|
|
NM_178452.6(DNAAF1):c.1462C>T (p.Arg488Ter)
|
rs375641621
|
|
|
NM_178452.6(DNAAF1):c.1475G>A (p.Gly492Glu)
|
rs2151267135
|
|
|
NM_178452.6(DNAAF1):c.1477A>T (p.Thr493Ser)
|
rs2088261172
|
|
|
NM_178452.6(DNAAF1):c.147_148del (p.Ile49fs)
|
rs1555519999
|
|
|
NM_178452.6(DNAAF1):c.1484del (p.Pro495fs)
|
rs2088261600
|
|
|
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.1493C>A (p.Ala498Asp)
|
rs1192806420
|
|
|
NM_178452.6(DNAAF1):c.1507C>A (p.Pro503Thr)
|
rs1295741623
|
|
|
NM_178452.6(DNAAF1):c.1508C>G (p.Pro503Arg)
|
rs557532640
|
|
|
NM_178452.6(DNAAF1):c.1509C>T (p.Pro503=)
|
rs2151267410
|
|
|
NM_178452.6(DNAAF1):c.1512G>A (p.Leu504=)
|
rs2088264269
|
|
|
NM_178452.6(DNAAF1):c.1515A>T (p.Gly505=)
|
rs2507474682
|
|
|
NM_178452.6(DNAAF1):c.1525G>T (p.Glu509Ter)
|
rs1295920871
|
|
|
NM_178452.6(DNAAF1):c.1529-11T>C
|
rs913895952
|
|
|
NM_178452.6(DNAAF1):c.1529-17T>A
|
|
|
|
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.1539C>T (p.Pro513=)
|
rs2088402653
|
|
|
NM_178452.6(DNAAF1):c.153G>C (p.Val51=)
|
rs1266425034
|
|
|
NM_178452.6(DNAAF1):c.1568T>A (p.Val523Asp)
|
rs1481696884
|
|
|
NM_178452.6(DNAAF1):c.1573G>A (p.Glu525Lys)
|
rs886052370
|
|
|
NM_178452.6(DNAAF1):c.1576C>A (p.Leu526Ile)
|
|
|
|
NM_178452.6(DNAAF1):c.1578T>C (p.Leu526=)
|
rs2507491889
|
|
|
NM_178452.6(DNAAF1):c.1586C>T (p.Thr529Met)
|
rs780536622
|
|
|
NM_178452.6(DNAAF1):c.1589G>A (p.Arg530Lys)
|
rs1415853219
|
|
|
NM_178452.6(DNAAF1):c.1590A>T (p.Arg530Ser)
|
rs774502745
|
|
|
NM_178452.6(DNAAF1):c.1606del (p.Thr536fs)
|
rs2507492334
|
|
|
NM_178452.6(DNAAF1):c.1609A>T (p.Ile537Phe)
|
|
|
|
NM_178452.6(DNAAF1):c.1610T>C (p.Ile537Thr)
|
|
|
|
NM_178452.6(DNAAF1):c.1611T>C (p.Ile537=)
|
rs1221166311
|
|
|
NM_178452.6(DNAAF1):c.1615C>A (p.Leu539Met)
|
rs1239119335
|
|
|
NM_178452.6(DNAAF1):c.1618G>T (p.Glu540Ter)
|
rs752285725
|
|
|
NM_178452.6(DNAAF1):c.1642G>A (p.Asp548Asn)
|
rs2088409947
|
|
|
NM_178452.6(DNAAF1):c.1644+17dup
|
rs2507493040
|
|
|
NM_178452.6(DNAAF1):c.1645-19G>C
|
rs192432193
|
|
|
NM_178452.6(DNAAF1):c.1645-5T>C
|
rs2507515348
|
|
|
NM_178452.6(DNAAF1):c.1645-9C>T
|
rs775351767
|
|
|
NM_178452.6(DNAAF1):c.1665T>C (p.Asp555=)
|
rs576928019
|
|
|
NM_178452.6(DNAAF1):c.1671T>C (p.Asp557=)
|
|
|
|
NM_178452.6(DNAAF1):c.1691A>C (p.Glu564Ala)
|
rs2151278226
|
|
|
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.1698+1G>C
|
|
|
|
NM_178452.6(DNAAF1):c.1698+8T>A
|
rs1186759315
|
|
|
NM_178452.6(DNAAF1):c.1699-19C>A
|
|
|
|
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.1719T>A (p.Ile573=)
|
rs2507526779
|
|
|
NM_178452.6(DNAAF1):c.172T>G (p.Tyr58Asp)
|
rs2151206382
|
|
|
NM_178452.6(DNAAF1):c.1746dup (p.Ser583fs)
|
rs751994125
|
|
|
NM_178452.6(DNAAF1):c.1748G>A (p.Ser583Asn)
|
rs1488717484
|
|
|
NM_178452.6(DNAAF1):c.1752C>A (p.Asp584Glu)
|
|
|
|
NM_178452.6(DNAAF1):c.1770G>C (p.Thr590=)
|
rs747916153
|
|
|
NM_178452.6(DNAAF1):c.1780G>A (p.Val594Met)
|
rs2088633060
|
|
|
NM_178452.6(DNAAF1):c.1783C>G (p.Leu595Val)
|
rs2507527544
|
|
|
NM_178452.6(DNAAF1):c.179G>C (p.Ser60Thr)
|
rs1597397944
|
|
|
NM_178452.6(DNAAF1):c.17C>T (p.Ser6Leu)
|
|
|
|
NM_178452.6(DNAAF1):c.1807C>G (p.Leu603Val)
|
rs774702739
|
|
|
NM_178452.6(DNAAF1):c.1807C>T (p.Leu603=)
|
rs774702739
|
|
|
NM_178452.6(DNAAF1):c.1814dup (p.Asn605fs)
|
rs1555526915
|
|
|
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.1832A>C (p.Lys611Thr)
|
rs2507528252
|
|
|
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.1899G>C (p.Leu633Phe)
|
rs1184177131
|
|
|
NM_178452.6(DNAAF1):c.1903A>G (p.Ile635Val)
|
|
|
|
NM_178452.6(DNAAF1):c.190C>T (p.Gln64Ter)
|
rs1060502829
|
|
|
NM_178452.6(DNAAF1):c.1927C>T (p.Pro643Ser)
|
rs1017412114
|
|
|
NM_178452.6(DNAAF1):c.192G>T (p.Gln64His)
|
rs111414382
|
|
|
NM_178452.6(DNAAF1):c.1936C>G (p.Leu646Val)
|
rs2507529776
|
|
|
NM_178452.6(DNAAF1):c.194G>A (p.Ser65Asn)
|
rs2507335760
|
|
|
NM_178452.6(DNAAF1):c.1954G>C (p.Asp652His)
|
rs113845425
|
|
|
NM_178452.6(DNAAF1):c.1957G>T (p.Glu653Ter)
|
rs201034372
|
|
|
NM_178452.6(DNAAF1):c.196G>T (p.Gly66Cys)
|
rs1376964064
|
|
|
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.1992C>T (p.Thr664=)
|
rs1597498161
|
|
|
NM_178452.6(DNAAF1):c.1998A>G (p.Gln666=)
|
|
|
|
NM_178452.6(DNAAF1):c.2007T>A (p.Ala669=)
|
|
|
|
NM_178452.6(DNAAF1):c.2012C>T (p.Pro671Leu)
|
rs1597498231
|
|
|
NM_178452.6(DNAAF1):c.2024G>A (p.Ser675Asn)
|
rs2288023
|
|
|
NM_178452.6(DNAAF1):c.2039G>A (p.Ser680Asn)
|
rs2507531340
|
|
|
NM_178452.6(DNAAF1):c.2040C>T (p.Ser680=)
|
|
|
|
NM_178452.6(DNAAF1):c.205_212del (p.Gly69fs)
|
rs2507335922
|
|
|
NM_178452.6(DNAAF1):c.2061_2063dup (p.Pro688dup)
|
rs776738547
|
|
|
NM_178452.6(DNAAF1):c.2065+14dup
|
rs2151282395
|
|
|
NM_178452.6(DNAAF1):c.2065+16C>T
|
|
|
|
NM_178452.6(DNAAF1):c.2065+17G>A
|
|
|
|
NM_178452.6(DNAAF1):c.2065+1del
|
rs1567571110
|
|
|
NM_178452.6(DNAAF1):c.2065+20A>G
|
rs1392623784
|
|
|
NM_178452.6(DNAAF1):c.2065+9G>T
|
rs200690810
|
|
|
NM_178452.6(DNAAF1):c.2076G>C (p.Glu692Asp)
|
|
|
|
NM_178452.6(DNAAF1):c.2100G>A (p.Thr700=)
|
|
|
|
NM_178452.6(DNAAF1):c.2114C>G (p.Ala705Gly)
|
rs1567574383
|
|
|
NM_178452.6(DNAAF1):c.2118G>C (p.Gln706His)
|
rs2507553276
|
|
|
NM_178452.6(DNAAF1):c.2124C>A (p.Ser708Arg)
|
|
|
|
NM_178452.6(DNAAF1):c.2138C>A (p.Thr713Lys)
|
rs374905502
|
|
|
NM_178452.6(DNAAF1):c.2141G>C (p.Trp714Ser)
|
rs2088819587
|
|
|
NM_178452.6(DNAAF1):c.2143G>A (p.Asp715Asn)
|
rs1334534849
|
|
|
NM_178452.6(DNAAF1):c.2146C>A (p.Leu716Ile)
|
|
|
|
NM_178452.6(DNAAF1):c.214G>A (p.Gly72Ser)
|
rs1597398065
|
|
|
NM_178452.6(DNAAF1):c.2157C>G (p.Phe719Leu)
|
|
|
|
NM_178452.6(DNAAF1):c.215G>T (p.Gly72Val)
|
|
|
|
NM_178452.6(DNAAF1):c.2165C>T (p.Pro722Leu)
|
rs775816960
|
|
|
NM_178452.6(DNAAF1):c.2178G>A (p.Ter726=)
|
rs2507554860
|
|
|
NM_178452.6(DNAAF1):c.218A>T (p.His73Leu)
|
rs2087061568
|
|
|
NM_178452.6(DNAAF1):c.223G>A (p.Ala75Thr)
|
rs200440212
|
|
|
NM_178452.6(DNAAF1):c.238G>A (p.Asp80Asn)
|
|
|
|
NM_178452.6(DNAAF1):c.255C>A (p.Gly85=)
|
|
|
|
NM_178452.6(DNAAF1):c.261-20A>G
|
rs2087120807
|
|
|
NM_178452.6(DNAAF1):c.279G>A (p.Leu93=)
|
rs1466796208
|
|
|
NM_178452.6(DNAAF1):c.29C>T (p.Thr10Ile)
|
rs753941664
|
|
|
NM_178452.6(DNAAF1):c.30del (p.Gly11fs)
|
rs2507307401
|
|
|
NM_178452.6(DNAAF1):c.312T>C (p.Ile104=)
|
|
|
|
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.317del (p.Pro106fs)
|
rs2507345386
|
|
|
NM_178452.6(DNAAF1):c.327T>C (p.Asn109=)
|
rs149063283
|
|
|
NM_178452.6(DNAAF1):c.327T>G (p.Asn109Lys)
|
rs149063283
|
|
|
NM_178452.6(DNAAF1):c.32G>C (p.Gly11Ala)
|
rs1441002883
|
|
|
NM_178452.6(DNAAF1):c.331dup (p.Thr111fs)
|
rs767808030
|
|
|
NM_178452.6(DNAAF1):c.332C>A (p.Thr111Lys)
|
rs375812500
|
|
|
NM_178452.6(DNAAF1):c.333G>A (p.Thr111=)
|
rs755549512
|
|
|
NM_178452.6(DNAAF1):c.333G>C (p.Thr111=)
|
rs755549512
|
|
|
NM_178452.6(DNAAF1):c.349A>C (p.Lys117Gln)
|
|
|
|
NM_178452.6(DNAAF1):c.352+13G>C
|
|
|
|
NM_178452.6(DNAAF1):c.352+15G>C
|
rs1230451828
|
|
|
NM_178452.6(DNAAF1):c.352+9C>A
|
rs2507345858
|
|
|
NM_178452.6(DNAAF1):c.353-5G>A
|
rs2507366339
|
|
|
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.392T>G (p.Leu131Arg)
|
|
|
|
NM_178452.6(DNAAF1):c.394C>T (p.Arg132Cys)
|
rs538582505
|
|
|
NM_178452.6(DNAAF1):c.395G>A (p.Arg132His)
|
rs371065429
|
|
|
NM_178452.6(DNAAF1):c.430A>G (p.Ile144Val)
|
rs2507367156
|
|
|
NM_178452.6(DNAAF1):c.438C>T (p.Asn146=)
|
rs2087328101
|
|
|
NM_178452.6(DNAAF1):c.442G>T (p.Glu148Ter)
|
rs2507367277
|
|
|
NM_178452.6(DNAAF1):c.445G>C (p.Ala149Pro)
|
rs749082639
|
|
|
NM_178452.6(DNAAF1):c.447C>T (p.Ala149=)
|
|
|
|
NM_178452.6(DNAAF1):c.462_465del (p.Cys155fs)
|
rs2507367572
|
|
|
NM_178452.6(DNAAF1):c.468CTT[1] (p.Phe157del)
|
rs1555521110
|
|
|
NM_178452.6(DNAAF1):c.482A>G (p.Asn161Ser)
|
rs752043457
|
|
|
NM_178452.6(DNAAF1):c.49G>T (p.Asp17Tyr)
|
|
|
|
NM_178452.6(DNAAF1):c.4C>A (p.His2Asn)
|
rs1367546093
|
|
|
NM_178452.6(DNAAF1):c.508dup (p.Glu170fs)
|
rs786205052
|
|
|
NM_178452.6(DNAAF1):c.511C>A (p.Pro171Thr)
|
rs754730362
|
|
|
NM_178452.6(DNAAF1):c.522A>G (p.Lys174=)
|
rs1567541155
|
|
|
NM_178452.6(DNAAF1):c.533T>C (p.Leu178Pro)
|
rs2087331937
|
|
|
NM_178452.6(DNAAF1):c.538C>G (p.Leu180Val)
|
rs746506056
|
|
|
NM_178452.6(DNAAF1):c.561C>G (p.Thr187=)
|
rs1204834834
|
|
|
NM_178452.6(DNAAF1):c.574+11C>T
|
rs768037706
|
|
|
NM_178452.6(DNAAF1):c.575-11T>C
|
|
|
|
NM_178452.6(DNAAF1):c.575-18G>T
|
rs774896541
|
|
|
NM_178452.6(DNAAF1):c.584C>G (p.Pro195Arg)
|
rs1308392116
|
|
|
NM_178452.6(DNAAF1):c.59A>G (p.Gln20Arg)
|
|
|
|
NM_178452.6(DNAAF1):c.604A>C (p.Met202Leu)
|
|
|
|
NM_178452.6(DNAAF1):c.605T>C (p.Met202Thr)
|
rs2087389150
|
|
|
NM_178452.6(DNAAF1):c.614A>G (p.Asn205Ser)
|
|
|
|
NM_178452.6(DNAAF1):c.620T>G (p.Leu207Arg)
|
rs1060502830
|
|
|
NM_178452.6(DNAAF1):c.640C>G (p.Gln214Glu)
|
|
|
|
NM_178452.6(DNAAF1):c.649C>T (p.Gln217Ter)
|
rs201630226
|
|
|
NM_178452.6(DNAAF1):c.663G>A (p.Arg221=)
|
rs984903810
|
|
|
NM_178452.6(DNAAF1):c.66C>T (p.Pro22=)
|
|
|
|
NM_178452.6(DNAAF1):c.679C>T (p.Leu227Phe)
|
rs1453223029
|
|
|
NM_178452.6(DNAAF1):c.684G>A (p.Ser228=)
|
rs200109125
|
|
|
NM_178452.6(DNAAF1):c.684G>C (p.Ser228=)
|
rs200109125
|
|
|
NM_178452.6(DNAAF1):c.68G>A (p.Gly23Asp)
|
rs2086855827
|
|
|
NM_178452.6(DNAAF1):c.693G>A (p.Lys231=)
|
|
|
|
NM_178452.6(DNAAF1):c.712C>A (p.Leu238Met)
|
rs2087394618
|
|
|
NM_178452.6(DNAAF1):c.714G>A (p.Leu238=)
|
rs928649220
|
|
|
NM_178452.6(DNAAF1):c.730A>G (p.Met244Val)
|
rs2507375642
|
|
|
NM_178452.6(DNAAF1):c.741+2T>G
|
rs2087395615
|
|
|
NM_178452.6(DNAAF1):c.741+4AAAAAC[4]
|
rs746627763
|
|
|
NM_178452.6(DNAAF1):c.742-12G>A
|
rs780223202
|
|
|
NM_178452.6(DNAAF1):c.742-7C>G
|
rs2087610689
|
|
|
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.748C>T (p.Leu250=)
|
|
|
|
NM_178452.6(DNAAF1):c.749T>C (p.Leu250Pro)
|
rs1555522543
|
|
|
NM_178452.6(DNAAF1):c.761G>C (p.Gly254Ala)
|
rs2507397458
|
|
|
NM_178452.6(DNAAF1):c.765C>G (p.Asn255Lys)
|
rs373103805
|
|
|
NM_178452.6(DNAAF1):c.765C>T (p.Asn255=)
|
rs373103805
|
|
|
NM_178452.6(DNAAF1):c.766C>G (p.Pro256Ala)
|
rs377443247
|
|
|
NM_178452.6(DNAAF1):c.76G>C (p.Glu26Gln)
|
|
|
|
NM_178452.6(DNAAF1):c.778C>T (p.Gln260Ter)
|
rs2087613070
|
|
|
NM_178452.6(DNAAF1):c.78G>A (p.Glu26=)
|
|
|
|
NM_178452.6(DNAAF1):c.794G>A (p.Arg265Lys)
|
rs867096947
|
|
|
NM_178452.6(DNAAF1):c.7C>T (p.Pro3Ser)
|
rs868661486
|
|
|
NM_178452.6(DNAAF1):c.831C>G (p.Tyr277Ter)
|
rs1396269749
|
|
|
NM_178452.6(DNAAF1):c.863+6A>C
|
rs1303480013
|
|
|
NM_178452.6(DNAAF1):c.864-17_864-14del
|
rs141073777
|
|
|
NM_178452.6(DNAAF1):c.872C>T (p.Ala291Val)
|
rs745857720
|
|
|
NM_178452.6(DNAAF1):c.880T>C (p.Trp294Arg)
|
rs1479444145
|
|
|
NM_178452.6(DNAAF1):c.922C>T (p.Gln308Ter)
|
rs372303284
|
|
|
NM_178452.6(DNAAF1):c.930G>C (p.Glu310Asp)
|
rs752852857
|
|
|
NM_178452.6(DNAAF1):c.934_940del (p.Arg312fs)
|
rs1233603821
|
|
|
NM_178452.6(DNAAF1):c.935G>C (p.Arg312Thr)
|
rs2087949170
|
|
|
NM_178452.6(DNAAF1):c.937G>A (p.Glu313Lys)
|
rs1567554737
|
|
|
NM_178452.6(DNAAF1):c.939G>A (p.Glu313=)
|
rs1231580211
|
|
|
NM_178452.6(DNAAF1):c.93C>A (p.His31Gln)
|
rs780631154
|
|
|
NM_178452.6(DNAAF1):c.942_943delinsAT (p.Lys315Ter)
|
|
|
|
NM_178452.6(DNAAF1):c.948G>T (p.Lys316Asn)
|
|
|
|
NM_178452.6(DNAAF1):c.94G>A (p.Gly32Arg)
|
|
|
|
NM_178452.6(DNAAF1):c.951C>A (p.Ile317=)
|
|
|
|
NM_178452.6(DNAAF1):c.979A>T (p.Ile327Phe)
|
|
|
|
NM_178452.6(DNAAF1):c.985C>T (p.Gln329Ter)
|
rs2507432053
|
|
|
NM_178821.3(DAW1):c.1091G>C (p.Ser364Thr)
|
rs541693633
|
|
|
NM_178821.3(DAW1):c.1116G>T (p.Trp372Cys)
|
rs1435687311
|
|
|
NM_178821.3(DAW1):c.357G>A (p.Trp119Ter)
|
rs2106197058
|
|
|
NM_178821.3(DAW1):c.427A>G (p.Asn143Asp)
|
rs1265774517
|
|
|
NM_181426.1(CCDC39):c.-111C>T
|
rs769812639
|
|
|
NM_181426.2(CCDC39):c.*529_*530insACC
|
rs886058193
|
|
|
NM_181426.2(CCDC39):c.*529dup
|
rs1553800565
|
|
|
NM_181426.2(CCDC39):c.*530_*532dup
|
rs886058192
|
|
|
NM_181426.2(CCDC39):c.*531_*532dup
|
rs886058192
|
|
|
NM_181426.2(CCDC39):c.*532dup
|
rs886058192
|
|
|
NM_181426.2(CCDC39):c.*545dup
|
rs886058190
|
|
|
NM_181426.2(CCDC39):c.*802AGT[1]
|
rs886058189
|
|
|
NM_181426.2(CCDC39):c.1006A>T (p.Lys336Ter)
|
rs2473814484
|
|
|
NM_181426.2(CCDC39):c.1007_1010del (p.Lys336fs)
|
rs1711502781
|
|
|
NM_181426.2(CCDC39):c.1018_1019insG (p.His340fs)
|
|
|
|
NM_181426.2(CCDC39):c.1019A>G (p.His340Arg)
|
rs2108424748
|
|
|
NM_181426.2(CCDC39):c.1025A>G (p.Glu342Gly)
|
rs1553804760
|
|
|
NM_181426.2(CCDC39):c.1028C>T (p.Thr343Ile)
|
rs957354905
|
|
|
NM_181426.2(CCDC39):c.1034+13C>G
|
rs1024412889
|
|
|
NM_181426.2(CCDC39):c.1034+13C>T
|
|
|
|
NM_181426.2(CCDC39):c.1034+15A>G
|
|
|
|
NM_181426.2(CCDC39):c.1034+1G>A
|
rs1280721587
|
|
|
NM_181426.2(CCDC39):c.1034+2T>A
|
rs1210953680
|
|
|
NM_181426.2(CCDC39):c.1035-13A>G
|
rs2473813551
|
|
|
NM_181426.2(CCDC39):c.1035-15A>G
|
rs2473813557
|
|
|
NM_181426.2(CCDC39):c.1035-18G>A
|
rs2473813560
|
|
|
NM_181426.2(CCDC39):c.1035-18G>T
|
rs2473813560
|
|
|
NM_181426.2(CCDC39):c.1045del (p.Thr349fs)
|
rs747980515
|
|
|
NM_181426.2(CCDC39):c.1059del (p.Asn353fs)
|
rs2473813482
|
|
|
NM_181426.2(CCDC39):c.1072A>G (p.Thr358Ala)
|
|
|
|
NM_181426.2(CCDC39):c.1072del (p.Thr358fs)
|
rs587778822
|
|
|
NM_181426.2(CCDC39):c.1073_1076del (p.Thr358fs)
|
rs878855279
|
|
|
NM_181426.2(CCDC39):c.1077A>G (p.Lys359=)
|
rs2473813429
|
|
|
NM_181426.2(CCDC39):c.1086G>A (p.Glu362=)
|
rs2473813418
|
|
|
NM_181426.2(CCDC39):c.1113dup (p.Glu372fs)
|
rs2473813365
|
|
|
NM_181426.2(CCDC39):c.1128T>C (p.Asn376=)
|
|
|
|
NM_181426.2(CCDC39):c.1129T>C (p.Leu377=)
|
rs999607822
|
|
|
NM_181426.2(CCDC39):c.112A>T (p.Arg38Ter)
|
rs1481266590
|
|
|
NM_181426.2(CCDC39):c.1133A>G (p.Glu378Gly)
|
rs1718205726
|
|
|
NM_181426.2(CCDC39):c.1143A>G (p.Leu381=)
|
rs2473813297
|
|
|
NM_181426.2(CCDC39):c.114_115del (p.Arg38fs)
|
rs2473828784
|
|
|
NM_181426.2(CCDC39):c.1158del (p.Asp387fs)
|
rs2473813226
|
|
|
NM_181426.2(CCDC39):c.1159del (p.Asp387fs)
|
rs1275367324
|
|
|
NM_181426.2(CCDC39):c.1167+10A>G
|
rs2473813184
|
|
|
NM_181426.2(CCDC39):c.1167+1248A>G
|
rs1718166306
|
|
|
NM_181426.2(CCDC39):c.1167+1258_1167+1270del
|
rs945414657
|
|
|
NM_181426.2(CCDC39):c.1167+15dup
|
rs2473813179
|
|
|
NM_181426.2(CCDC39):c.1167+1G>A
|
rs1292030955
|
|
|
NM_181426.2(CCDC39):c.1168-10T>C
|
rs2473810147
|
|
|
NM_181426.2(CCDC39):c.1168-14A>G
|
rs2473810151
|
|
|
NM_181426.2(CCDC39):c.1168-17A>G
|
rs1576944275
|
|
|
NM_181426.2(CCDC39):c.1168-18T>C
|
rs2473810156
|
|
|
NM_181426.2(CCDC39):c.1168-2A>C
|
rs1468349011
|
|
|
NM_181426.2(CCDC39):c.1168-6_1168-4del
|
rs2473810144
|
|
|
NM_181426.2(CCDC39):c.1168-9C>T
|
|
|
|
NM_181426.2(CCDC39):c.1179T>G (p.Val393=)
|
rs2473810113
|
|
|
NM_181426.2(CCDC39):c.1183C>T (p.Leu395=)
|
rs1222205720
|
|
|
NM_181426.2(CCDC39):c.1191C>T (p.Leu397=)
|
|
|
|
NM_181426.2(CCDC39):c.1198G>A (p.Gly400Ser)
|
rs147383873
|
|
|
NM_181426.2(CCDC39):c.1199del (p.Gly400fs)
|
rs2473810084
|
|
|
NM_181426.2(CCDC39):c.1206G>A (p.Leu402=)
|
|
|
|
NM_181426.2(CCDC39):c.1208_1209insGGTGTGCTGTTGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGGTGTGCTGTT (p.Phe403fs)
|
rs2108421980
|
|
|
NM_181426.2(CCDC39):c.1233T>A (p.Thr411=)
|
rs2473810052
|
|
|
NM_181426.2(CCDC39):c.1236G>A (p.Glu412=)
|
rs750550005
|
|
|
NM_181426.2(CCDC39):c.1238C>G (p.Thr413Arg)
|
rs1718120697
|
|
|
NM_181426.2(CCDC39):c.1242del (p.Met414fs)
|
rs1553804220
|
|
|
NM_181426.2(CCDC39):c.1252del (p.Ala418fs)
|
rs2473810026
|
|
|
NM_181426.2(CCDC39):c.1257_1258insA (p.Leu420fs)
|
rs2473810012
|
|
|
NM_181426.2(CCDC39):c.1260A>G (p.Leu420=)
|
|
|
|
NM_181426.2(CCDC39):c.1263A>G (p.Ser421=)
|
|
|
|
NM_181426.2(CCDC39):c.1311dup (p.Gln438fs)
|
rs1553804209
|
|
|
NM_181426.2(CCDC39):c.1318C>G (p.Leu440Val)
|
|
|
|
NM_181426.2(CCDC39):c.132G>A (p.Glu44=)
|
rs1711808303
|
|
|
NM_181426.2(CCDC39):c.1345G>T (p.Glu449Ter)
|
rs1472519086
|
|
|
NM_181426.2(CCDC39):c.1359C>A (p.Ser453Arg)
|
rs6769457
|
|
|
NM_181426.2(CCDC39):c.1362+15T>C
|
|
|
|
NM_181426.2(CCDC39):c.1362+16A>G
|
rs1258228391
|
|
|
NM_181426.2(CCDC39):c.1362+19A>C
|
rs757420910
|
|
|
NM_181426.2(CCDC39):c.1362+1G>A
|
|
|
|
NM_181426.2(CCDC39):c.1362+20A>T
|
rs1343116989
|
|
|
NM_181426.2(CCDC39):c.1363-13del
|
rs374074877
|
|
|
NM_181426.2(CCDC39):c.1363-14_1363-13dup
|
rs374074877
|
|
|
NM_181426.2(CCDC39):c.1363-23dup
|
rs374074877
|
|
|
NM_181426.2(CCDC39):c.1363-7_1363-6del
|
rs764514126
|
|
|
NM_181426.2(CCDC39):c.1363-9C>A
|
rs2473808919
|
|
|
NM_181426.2(CCDC39):c.1368T>G (p.Phe456Leu)
|
|
|
|
NM_181426.2(CCDC39):c.136C>T (p.Arg46Cys)
|
|
|
|
NM_181426.2(CCDC39):c.1381del (p.Val461fs)
|
rs2473808886
|
|
|
NM_181426.2(CCDC39):c.1384G>T (p.Glu462Ter)
|
rs2473808878
|
|
|
NM_181426.2(CCDC39):c.139_142del (p.Glu47fs)
|
rs2473828687
|
|
|
NM_181426.2(CCDC39):c.1410A>G (p.Gly470=)
|
rs1292653659
|
|
|
NM_181426.2(CCDC39):c.1415_1417del (p.Ile472del)
|
rs1336978771
|
|
|
NM_181426.2(CCDC39):c.1417_1420del (p.Asn473fs)
|
|
|
|
NM_181426.2(CCDC39):c.1437G>T (p.Ala479=)
|
rs1429796397
|
|
|
NM_181426.2(CCDC39):c.144T>C (p.Tyr48=)
|
rs2473828684
|
|
|
NM_181426.2(CCDC39):c.1451T>C (p.Ile484Thr)
|
|
|
|
NM_181426.2(CCDC39):c.1460T>C (p.Leu487Pro)
|
rs1718084209
|
|
|
NM_181426.2(CCDC39):c.1470T>G (p.Ser490=)
|
rs781665951
|
|
|
NM_181426.2(CCDC39):c.1484_1485del (p.Lys495fs)
|
rs751239231
|
|
|
NM_181426.2(CCDC39):c.1485dup (p.Ser496fs)
|
rs751239231
|
|
|
NM_181426.2(CCDC39):c.1491A>C (p.Thr497=)
|
rs1222659193
|
|
|
NM_181426.2(CCDC39):c.151C>T (p.Arg51Ter)
|
|
|
|
NM_181426.2(CCDC39):c.1524T>A (p.Leu508=)
|
|
|
|
NM_181426.2(CCDC39):c.1525C>T (p.His509Tyr)
|
rs760511976
|
|
|
NM_181426.2(CCDC39):c.1527+11C>T
|
rs2473808696
|
|
|
NM_181426.2(CCDC39):c.1528-10T>C
|
rs1434836241
|
|
|
NM_181426.2(CCDC39):c.1528-11_1528-10del
|
rs765966793
|
|
|
NM_181426.2(CCDC39):c.1528-12T>A
|
rs1718023669
|
|
|
NM_181426.2(CCDC39):c.1528-12del
|
rs2473806459
|
|
|
NM_181426.2(CCDC39):c.1528-17T>C
|
|
|
|
NM_181426.2(CCDC39):c.1528-2A>G
|
rs1432128768
|
|
|
NM_181426.2(CCDC39):c.1528-2A>T
|
rs1432128768
|
|
|
NM_181426.2(CCDC39):c.1528-6T>A
|
rs1718023157
|
|
|
NM_181426.2(CCDC39):c.1540_1544del (p.Phe514fs)
|
rs2108420039
|
|
|
NM_181426.2(CCDC39):c.1575A>G (p.Glu525=)
|
rs1476292065
|
|
|
NM_181426.2(CCDC39):c.1578A>G (p.Lys526=)
|
|
|
|
NM_181426.2(CCDC39):c.1579C>T (p.Gln527Ter)
|
rs1168132298
|
|
|
NM_181426.2(CCDC39):c.157_160del (p.Asn53fs)
|
rs2473828662
|
|
|
NM_181426.2(CCDC39):c.1593C>A (p.Thr531=)
|
rs1258922191
|
|
|
NM_181426.2(CCDC39):c.1602T>C (p.Asn534=)
|
rs2473806270
|
|
|
NM_181426.2(CCDC39):c.1603G>T (p.Glu535Ter)
|
rs1718020912
|
|
|
NM_181426.2(CCDC39):c.1613T>G (p.Leu538Arg)
|
rs2473806241
|
|
|
NM_181426.2(CCDC39):c.1621G>A (p.Asp541Asn)
|
rs764908281
|
|
|
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.1633A>G (p.Lys545Glu)
|
rs2108419987
|
|
|
NM_181426.2(CCDC39):c.1636G>T (p.Glu546Ter)
|
rs2473806198
|
|
|
NM_181426.2(CCDC39):c.163_164del (p.Met55fs)
|
rs878855280
|
|
|
NM_181426.2(CCDC39):c.1650C>T (p.Ala550=)
|
rs1419892382
|
|
|
NM_181426.2(CCDC39):c.1665+9A>G
|
rs2473806132
|
|
|
NM_181426.2(CCDC39):c.1666-8G>T
|
rs747342645
|
|
|
NM_181426.2(CCDC39):c.1666-9C>G
|
rs1717971093
|
|
|
NM_181426.2(CCDC39):c.1666-9C>T
|
rs1717971093
|
|
|
NM_181426.2(CCDC39):c.1674_1675dup (p.Ile559fs)
|
rs2108418891
|
|
|
NM_181426.2(CCDC39):c.1693A>T (p.Lys565Ter)
|
rs2473804165
|
|
|
NM_181426.2(CCDC39):c.1696C>T (p.Leu566Phe)
|
rs1225593392
|
|
|
NM_181426.2(CCDC39):c.1697T>C (p.Leu566Pro)
|
rs1060502868
|
|
|
NM_181426.2(CCDC39):c.1698T>C (p.Leu566=)
|
rs1374301198
|
|
|
NM_181426.2(CCDC39):c.1701A>G (p.Glu567=)
|
rs1035090903
|
|
|
NM_181426.2(CCDC39):c.1705A>T (p.Lys569Ter)
|
rs2473804152
|
|
|
NM_181426.2(CCDC39):c.1706A>G (p.Lys569Arg)
|
rs961031844
|
|
|
NM_181426.2(CCDC39):c.1708C>G (p.Arg570Gly)
|
rs763756005
|
|
|
NM_181426.2(CCDC39):c.1709G>T (p.Arg570Leu)
|
rs369208682
|
|
|
NM_181426.2(CCDC39):c.1731T>C (p.Ser577=)
|
rs2473804118
|
|
|
NM_181426.2(CCDC39):c.1731dup (p.Lys578Ter)
|
rs2473804121
|
|
|
NM_181426.2(CCDC39):c.1737A>G (p.Ala579=)
|
rs2473804111
|
|
|
NM_181426.2(CCDC39):c.1747C>A (p.Leu583Ile)
|
rs747263434
|
|
|
NM_181426.2(CCDC39):c.1753del (p.Ser584_Leu585insTer)
|
rs2473804087
|
|
|
NM_181426.2(CCDC39):c.1756del (p.Glu586fs)
|
rs1285431486
|
|
|
NM_181426.2(CCDC39):c.1767A>G (p.Lys589=)
|
rs1386067351
|
|
|
NM_181426.2(CCDC39):c.1773A>G (p.Gln591=)
|
rs2473804075
|
|
|
NM_181426.2(CCDC39):c.1783G>A (p.Ala595Thr)
|
|
|
|
NM_181426.2(CCDC39):c.1793A>G (p.Glu598Gly)
|
|
|
|
NM_181426.2(CCDC39):c.1795C>A (p.Arg599=)
|
rs201780665
|
|
|
NM_181426.2(CCDC39):c.1795C>G (p.Arg599Gly)
|
|
|
|
NM_181426.2(CCDC39):c.1801G>T (p.Glu601Ter)
|
rs2473804044
|
|
|
NM_181426.2(CCDC39):c.1807A>C (p.Ile603Leu)
|
|
|
|
NM_181426.2(CCDC39):c.1810A>T (p.Lys604Ter)
|
|
|
|
NM_181426.2(CCDC39):c.1819A>G (p.Lys607Glu)
|
|
|
|
NM_181426.2(CCDC39):c.1833del (p.Ser612fs)
|
rs1256848235
|
|
|
NM_181426.2(CCDC39):c.1869C>T (p.Asn623=)
|
rs2473803923
|
|
|
NM_181426.2(CCDC39):c.1871_1872del (p.Ile624fs)
|
rs1560086701
|
|
|
NM_181426.2(CCDC39):c.1874+1G>A
|
rs1553803540
|
|
|
NM_181426.2(CCDC39):c.1874+2T>C
|
rs1717963637
|
|
|
NM_181426.2(CCDC39):c.1874G>A (p.Ser625Asn)
|
rs769223754
|
|
|
NM_181426.2(CCDC39):c.1875-10T>A
|
rs2473793807
|
|
|
NM_181426.2(CCDC39):c.1875-14C>T
|
rs2473793813
|
|
|
NM_181426.2(CCDC39):c.1875-14_1875-13del
|
rs1164472199
|
|
|
NM_181426.2(CCDC39):c.1875-17T>A
|
rs2473793819
|
|
|
NM_181426.2(CCDC39):c.1875-1G>C
|
rs1300257600
|
|
|
NM_181426.2(CCDC39):c.1875-20del
|
rs2473793823
|
|
|
NM_181426.2(CCDC39):c.1875-9T>C
|
rs2473793803
|
|
|
NM_181426.2(CCDC39):c.1876_1877dup (p.Glu627fs)
|
rs746728127
|
|
|
NM_181426.2(CCDC39):c.1890G>A (p.Glu630=)
|
rs1285973489
|
|
|
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.18G>C (p.Leu6=)
|
rs2473846016
|
|
|
NM_181426.2(CCDC39):c.1920T>C (p.Asn640=)
|
rs2473793722
|
|
|
NM_181426.2(CCDC39):c.1922G>A (p.Arg641Lys)
|
rs1717697292
|
|
|
NM_181426.2(CCDC39):c.1923A>G (p.Arg641=)
|
|
|
|
NM_181426.2(CCDC39):c.1935G>A (p.Leu645=)
|
rs1030308648
|
|
|
NM_181426.2(CCDC39):c.1939_1940del (p.Val647fs)
|
rs2473793694
|
|
|
NM_181426.2(CCDC39):c.1953T>C (p.Pro651=)
|
rs2473793683
|
|
|
NM_181426.2(CCDC39):c.1962_1998+30del
|
|
|
|
NM_181426.2(CCDC39):c.1964_1968del (p.Glu655fs)
|
rs1717695462
|
|
|
NM_181426.2(CCDC39):c.1968G>A (p.Glu656=)
|
rs2473793652
|
|
|
NM_181426.2(CCDC39):c.1998+13_1998+16del
|
rs1323420536
|
|
|
NM_181426.2(CCDC39):c.1998+14A>G
|
|
|
|
NM_181426.2(CCDC39):c.1998+20A>G
|
rs2473793610
|
|
|
NM_181426.2(CCDC39):c.1999-12T>C
|
rs373905898
|
|
|
NM_181426.2(CCDC39):c.1999-1G>C
|
rs2473782922
|
|
|
NM_181426.2(CCDC39):c.1999-8C>T
|
rs2473782931
|
|
|
NM_181426.2(CCDC39):c.2017G>T (p.Glu673Ter)
|
rs762287443
|
|
|
NM_181426.2(CCDC39):c.2040_2043del (p.Cys680fs)
|
rs1174553107
|
|
|
NM_181426.2(CCDC39):c.2061A>G (p.Lys687=)
|
rs2473782824
|
|
|
NM_181426.2(CCDC39):c.2081C>T (p.Ala694Val)
|
rs1717386263
|
|
|
NM_181426.2(CCDC39):c.2082T>G (p.Ala694=)
|
rs2473782748
|
|
|
NM_181426.2(CCDC39):c.210+12G>T
|
rs2473828590
|
|
|
NM_181426.2(CCDC39):c.210+20T>G
|
rs372896635
|
|
|
NM_181426.2(CCDC39):c.210+2T>C
|
rs779447025
|
|
|
NM_181426.2(CCDC39):c.210+9A>C
|
rs1227343049
|
|
|
NM_181426.2(CCDC39):c.2103G>T (p.Val701=)
|
rs1717385286
|
|
|
NM_181426.2(CCDC39):c.211-14G>T
|
rs916137566
|
|
|
NM_181426.2(CCDC39):c.211-16G>A
|
rs2473826377
|
|
|
NM_181426.2(CCDC39):c.211-6C>A
|
rs2473826357
|
|
|
NM_181426.2(CCDC39):c.2131C>A (p.Gln711Lys)
|
rs1717384352
|
|
|
NM_181426.2(CCDC39):c.2136T>C (p.Ser712=)
|
rs2473782677
|
|
|
NM_181426.2(CCDC39):c.2152C>G (p.Pro718Ala)
|
|
|
|
NM_181426.2(CCDC39):c.2158+13T>C
|
rs1717382438
|
|
|
NM_181426.2(CCDC39):c.2158+19T>G
|
rs1717382169
|
|
|
NM_181426.2(CCDC39):c.2158+6T>C
|
rs1717382696
|
|
|
NM_181426.2(CCDC39):c.2158+9G>A
|
rs2108406532
|
|
|
NM_181426.2(CCDC39):c.2159-14G>A
|
rs917837385
|
|
|
NM_181426.2(CCDC39):c.2159-14G>T
|
rs917837385
|
|
|
NM_181426.2(CCDC39):c.2159-15T>G
|
rs1435709144
|
|
|
NM_181426.2(CCDC39):c.2159-4T>G
|
rs1382182097
|
|
|
NM_181426.2(CCDC39):c.2159G>A (p.Ser720Asn)
|
rs1379346337
|
|
|
NM_181426.2(CCDC39):c.2159G>T (p.Ser720Ile)
|
|
|
|
NM_181426.2(CCDC39):c.215T>C (p.Leu72Pro)
|
rs2473826351
|
|
|
NM_181426.2(CCDC39):c.216_217del (p.Cys73fs)
|
rs1489439743
|
|
|
NM_181426.2(CCDC39):c.2170G>A (p.Glu724Lys)
|
rs759035327
|
|
|
NM_181426.2(CCDC39):c.2172G>A (p.Glu724=)
|
rs141547546
|
|
|
NM_181426.2(CCDC39):c.2178A>C (p.Lys726Asn)
|
rs2108406240
|
|
|
NM_181426.2(CCDC39):c.2183A>G (p.Gln728Arg)
|
|
|
|
NM_181426.2(CCDC39):c.2184A>G (p.Gln728=)
|
rs1230848232
|
|
|
NM_181426.2(CCDC39):c.2190del (p.Glu731fs)
|
rs587778820
|
|
|
NM_181426.2(CCDC39):c.2205T>C (p.Ala735=)
|
rs2473781801
|
|
|
NM_181426.2(CCDC39):c.2250del (p.Gln751fs)
|
rs2473781768
|
|
|
NM_181426.2(CCDC39):c.2265+14G>T
|
|
|
|
NM_181426.2(CCDC39):c.2265+15C>A
|
rs1467266062
|
|
|
NM_181426.2(CCDC39):c.2265+16A>G
|
rs1378591217
|
|
|
NM_181426.2(CCDC39):c.2266-13A>G
|
rs2473778243
|
|
|
NM_181426.2(CCDC39):c.2266-16A>G
|
rs2473778247
|
|
|
NM_181426.2(CCDC39):c.2266-1G>A
|
rs2473778214
|
|
|
NM_181426.2(CCDC39):c.2266-3C>G
|
rs2473778217
|
|
|
NM_181426.2(CCDC39):c.2266-7del
|
|
|
|
NM_181426.2(CCDC39):c.2266-7dup
|
rs1287389353
|
|
|
NM_181426.2(CCDC39):c.2286T>C (p.Asp762=)
|
rs1717270266
|
|
|
NM_181426.2(CCDC39):c.2295A>G (p.Glu765=)
|
rs2473778079
|
|
|
NM_181426.2(CCDC39):c.22G>C (p.Glu8Gln)
|
rs1553807998
|
|
|
NM_181426.2(CCDC39):c.2312T>G (p.Val771Gly)
|
|
|
|
NM_181426.2(CCDC39):c.2323T>C (p.Leu775=)
|
rs769919542
|
|
|
NM_181426.2(CCDC39):c.2327dup (p.Glu777fs)
|
rs1717268208
|
|
|
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.2350C>T (p.Gln784Ter)
|
rs2108404522
|
|
|
NM_181426.2(CCDC39):c.2357_2359delinsT (p.Ser786fs)
|
rs587778821
|
|
|
NM_181426.2(CCDC39):c.2358_2362del (p.Ser786fs)
|
rs771057685
|
|
|
NM_181426.2(CCDC39):c.2371G>A (p.Glu791Lys)
|
rs1576930055
|
|
|
NM_181426.2(CCDC39):c.2376G>A (p.Gln792=)
|
rs2473777887
|
|
|
NM_181426.2(CCDC39):c.2381C>G (p.Pro794Arg)
|
rs7613155
|
|
|
NM_181426.2(CCDC39):c.2387T>G (p.Leu796Ter)
|
rs377454931
|
|
|
NM_181426.2(CCDC39):c.2391_2392del (p.Arg798fs)
|
rs2473777874
|
|
|
NM_181426.2(CCDC39):c.2391_2394del (p.Glu797_Arg798insTer)
|
rs749280773
|
|
|
NM_181426.2(CCDC39):c.2400C>G (p.Thr800=)
|
rs2108404469
|
|
|
NM_181426.2(CCDC39):c.2403A>G (p.Lys801=)
|
rs2473777844
|
|
|
NM_181426.2(CCDC39):c.2406+11C>A
|
rs2473777800
|
|
|
NM_181426.2(CCDC39):c.2406+2dup
|
rs778375693
|
|
|
NM_181426.2(CCDC39):c.2406+9A>C
|
rs144491691
|
|
|
NM_181426.2(CCDC39):c.2406+9_2406+10del
|
rs752498957
|
|
|
NM_181426.2(CCDC39):c.2407-20T>A
|
rs776677497
|
|
|
NM_181426.2(CCDC39):c.2407-2del
|
rs1560079213
|
|
|
NM_181426.2(CCDC39):c.2407-6C>T
|
rs2473777527
|
|
|
NM_181426.2(CCDC39):c.2407-7C>T
|
rs1182199057
|
|
|
NM_181426.2(CCDC39):c.2407-8A>T
|
rs769021943
|
|
|
NM_181426.2(CCDC39):c.2407-9T>C
|
rs878855282
|
|
|
NM_181426.2(CCDC39):c.2408G>A (p.Cys803Tyr)
|
rs561458801
|
|
|
NM_181426.2(CCDC39):c.2414A>C (p.Lys805Thr)
|
rs746421549
|
|
|
NM_181426.2(CCDC39):c.2418C>T (p.Leu806=)
|
rs778467466
|
|
|
NM_181426.2(CCDC39):c.2420C>T (p.Thr807Ile)
|
|
|
|
NM_181426.2(CCDC39):c.2446A>C (p.Thr816Pro)
|
|
|
|
NM_181426.2(CCDC39):c.2448A>G (p.Thr816=)
|
rs2473777445
|
|
|
NM_181426.2(CCDC39):c.2453A>T (p.Asp818Val)
|
rs1351057741
|
|
|
NM_181426.2(CCDC39):c.2460A>C (p.Thr820=)
|
rs1717255332
|
|
|
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.2470C>T (p.Gln824Ter)
|
rs1423596492
|
|
|
NM_181426.2(CCDC39):c.2485C>G (p.Arg829Gly)
|
|
|
|
NM_181426.2(CCDC39):c.2492_2496del (p.Met831fs)
|
rs2473777314
|
|
|
NM_181426.2(CCDC39):c.2497_2498del (p.Gln833fs)
|
rs1007345781
|
|
|
NM_181426.2(CCDC39):c.2505C>T (p.His835=)
|
|
|
|
NM_181426.2(CCDC39):c.2507_2508del (p.Lys836fs)
|
rs781526810
|
|
|
NM_181426.2(CCDC39):c.2517T>C (p.Asp839=)
|
rs761750422
|
|
|
NM_181426.2(CCDC39):c.2526A>G (p.Leu842=)
|
rs1717252361
|
|
|
NM_181426.2(CCDC39):c.2527G>C (p.Val843Leu)
|
rs2473777254
|
|
|
NM_181426.2(CCDC39):c.2528T>C (p.Val843Ala)
|
rs1213159340
|
|
|
NM_181426.2(CCDC39):c.2542_2546del (p.Glu848fs)
|
rs750086296
|
|
|
NM_181426.2(CCDC39):c.2550T>C (p.Thr850=)
|
|
|
|
NM_181426.2(CCDC39):c.2551G>T (p.Glu851Ter)
|
rs1553800956
|
|
|
NM_181426.2(CCDC39):c.2553G>A (p.Glu851=)
|
rs371713454
|
|
|
NM_181426.2(CCDC39):c.2553G>T (p.Glu851Asp)
|
rs371713454
|
|
|
NM_181426.2(CCDC39):c.2564T>G (p.Ile855Ser)
|
|
|
|
NM_181426.2(CCDC39):c.2569C>T (p.Gln857Ter)
|
rs2473777138
|
|
|
NM_181426.2(CCDC39):c.2574A>G (p.Thr858=)
|
rs2473777113
|
|
|
NM_181426.2(CCDC39):c.2586+11A>G
|
rs1717248467
|
|
|
NM_181426.2(CCDC39):c.2586+12C>A
|
rs938853102
|
|
|
NM_181426.2(CCDC39):c.2586+15_2586+17del
|
rs753826573
|
|
|
NM_181426.2(CCDC39):c.2586+20T>C
|
rs2473777043
|
|
|
NM_181426.2(CCDC39):c.2587-17A>G
|
rs1717242491
|
|
|
NM_181426.2(CCDC39):c.2587-20_2587-19delinsAG
|
rs2108404051
|
|
|
NM_181426.2(CCDC39):c.2587-4C>T
|
rs1576929567
|
|
|
NM_181426.2(CCDC39):c.25C>T (p.Leu9=)
|
rs886038750
|
|
|
NM_181426.2(CCDC39):c.2601_2607del (p.Pro868fs)
|
rs2473776818
|
|
|
NM_181426.2(CCDC39):c.2604T>C (p.Pro868=)
|
rs1372606259
|
|
|
NM_181426.2(CCDC39):c.2622C>T (p.Gly874=)
|
rs1279047184
|
|
|
NM_181426.2(CCDC39):c.2625T>C (p.Ser875=)
|
rs1348545274
|
|
|
NM_181426.2(CCDC39):c.2646T>G (p.Pro882=)
|
rs2473776748
|
|
|
NM_181426.2(CCDC39):c.2649A>C (p.Ser883=)
|
rs2473776747
|
|
|
NM_181426.2(CCDC39):c.264C>T (p.Ala88=)
|
rs2473826275
|
|
|
NM_181426.2(CCDC39):c.2650C>A (p.His884Asn)
|
|
|
|
NM_181426.2(CCDC39):c.2651A>G (p.His884Arg)
|
|
|
|
NM_181426.2(CCDC39):c.2651A>T (p.His884Leu)
|
|
|
|
NM_181426.2(CCDC39):c.2669+11G>A
|
rs751853252
|
|
|
NM_181426.2(CCDC39):c.2669+12G>A
|
|
|
|
NM_181426.2(CCDC39):c.2669+12del
|
rs2473776663
|
|
|
NM_181426.2(CCDC39):c.2669+20A>G
|
rs1717234902
|
|
|
NM_181426.2(CCDC39):c.2669+7G>T
|
|
|
|
NM_181426.2(CCDC39):c.2670-10T>G
|
rs2473773730
|
|
|
NM_181426.2(CCDC39):c.2697T>C (p.Thr899=)
|
rs2473773634
|
|
|
NM_181426.2(CCDC39):c.269C>T (p.Ala90Val)
|
rs2108430167
|
|
|
NM_181426.2(CCDC39):c.2715A>G (p.Lys905=)
|
rs886058198
|
|
|
NM_181426.2(CCDC39):c.2724G>A (p.Glu908=)
|
|
|
|
NM_181426.2(CCDC39):c.273A>G (p.Gln91=)
|
|
|
|
NM_181426.2(CCDC39):c.2744C>G (p.Ser915Cys)
|
rs1324302685
|
|
|
NM_181426.2(CCDC39):c.2749C>T (p.Leu917=)
|
rs2473773454
|
|
|
NM_181426.2(CCDC39):c.2760C>T (p.Ser920=)
|
|
|
|
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.2790C>T (p.Ser930=)
|
rs2473773353
|
|
|
NM_181426.2(CCDC39):c.2799T>C (p.Asn933=)
|
rs1242290618
|
|
|
NM_181426.2(CCDC39):c.2800_2802dup (p.Val934_Lys935insVal)
|
rs556950924
|
|
|
NM_181426.2(CCDC39):c.2814G>A (p.Lys938=)
|
rs2473773262
|
|
|
NM_181426.2(CCDC39):c.284del (p.Gly95fs)
|
rs2473826249
|
|
|
NM_181426.2(CCDC39):c.285A>G (p.Gly95=)
|
rs1487254995
|
|
|
NM_181426.2(CCDC39):c.290T>C (p.Val97Ala)
|
rs1711752710
|
|
|
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.29A>T (p.His10Leu)
|
rs752194812
|
|
|
NM_181426.2(CCDC39):c.307C>A (p.Arg103=)
|
rs61733582
|
|
|
NM_181426.2(CCDC39):c.307C>T (p.Arg103Trp)
|
rs61733582
|
|
|
NM_181426.2(CCDC39):c.308G>C (p.Arg103Pro)
|
rs766541691
|
|
|
NM_181426.2(CCDC39):c.341del (p.Lys114fs)
|
rs2473826155
|
|
|
NM_181426.2(CCDC39):c.350A>G (p.Asp117Gly)
|
rs1560092712
|
|
|
NM_181426.2(CCDC39):c.352_354del (p.Lys118del)
|
rs1245822059
|
|
|
NM_181426.2(CCDC39):c.358-14T>C
|
rs2473825077
|
|
|
NM_181426.2(CCDC39):c.358-18T>C
|
rs2473825081
|
|
|
NM_181426.2(CCDC39):c.360T>C (p.Asn120=)
|
rs2473825041
|
|
|
NM_181426.2(CCDC39):c.364A>G (p.Ile122Val)
|
rs371541452
|
|
|
NM_181426.2(CCDC39):c.367T>G (p.Phe123Val)
|
rs2108429552
|
|
|
NM_181426.2(CCDC39):c.36G>A (p.Glu12=)
|
rs2473845986
|
|
|
NM_181426.2(CCDC39):c.374C>T (p.Ala125Val)
|
|
|
|
NM_181426.2(CCDC39):c.377C>T (p.Thr126Ile)
|
|
|
|
NM_181426.2(CCDC39):c.402T>A (p.Cys134Ter)
|
rs1560092440
|
|
|
NM_181426.2(CCDC39):c.426A>G (p.Ala142=)
|
rs2473824965
|
|
|
NM_181426.2(CCDC39):c.427T>C (p.Leu143=)
|
|
|
|
NM_181426.2(CCDC39):c.432G>A (p.Glu144=)
|
rs990394869
|
|
|
NM_181426.2(CCDC39):c.435C>T (p.Ala145=)
|
rs2473824952
|
|
|
NM_181426.2(CCDC39):c.436del (p.Trp146fs)
|
rs2108429507
|
|
|
NM_181426.2(CCDC39):c.462T>C (p.Asp154=)
|
rs1389546787
|
|
|
NM_181426.2(CCDC39):c.465T>G (p.Ser155Arg)
|
|
|
|
NM_181426.2(CCDC39):c.485dup (p.Tyr163fs)
|
rs2473824869
|
|
|
NM_181426.2(CCDC39):c.493C>T (p.Gln165Ter)
|
rs1711717951
|
|
|
NM_181426.2(CCDC39):c.501T>A (p.Asp167Glu)
|
rs183574208
|
|
|
NM_181426.2(CCDC39):c.514A>G (p.Arg172Gly)
|
rs757331133
|
|
|
NM_181426.2(CCDC39):c.516+12_516+14del
|
rs2473824813
|
|
|
NM_181426.2(CCDC39):c.516+13A>G
|
|
|
|
NM_181426.2(CCDC39):c.516+14A>C
|
rs377363801
|
|
|
NM_181426.2(CCDC39):c.516+16T>A
|
rs2473824809
|
|
|
NM_181426.2(CCDC39):c.516+18G>T
|
rs1354638655
|
|
|
NM_181426.2(CCDC39):c.516+1G>A
|
rs2473824830
|
|
|
NM_181426.2(CCDC39):c.516+20A>T
|
rs2473824799
|
|
|
NM_181426.2(CCDC39):c.516+9T>C
|
rs2108429420
|
|
|
NM_181426.2(CCDC39):c.517-14T>C
|
rs2473824089
|
|
|
NM_181426.2(CCDC39):c.517-15A>G
|
rs2473824092
|
|
|
NM_181426.2(CCDC39):c.517-17A>G
|
rs2473824094
|
|
|
NM_181426.2(CCDC39):c.517-18T>C
|
rs2473824098
|
|
|
NM_181426.2(CCDC39):c.517-7A>T
|
rs1336579997
|
|
|
NM_181426.2(CCDC39):c.526_527del (p.Leu176fs)
|
rs780175755
|
|
|
NM_181426.2(CCDC39):c.529C>T (p.Gln177Ter)
|
rs1415205563
|
|
|
NM_181426.2(CCDC39):c.539G>T (p.Arg180Ile)
|
rs1711695591
|
|
|
NM_181426.2(CCDC39):c.541C>T (p.Leu181=)
|
rs758393705
|
|
|
NM_181426.2(CCDC39):c.542dup (p.Thr182fs)
|
rs2473824051
|
|
|
NM_181426.2(CCDC39):c.547_548del (p.Leu183fs)
|
rs758482424
|
|
|
NM_181426.2(CCDC39):c.550G>A (p.Glu184Lys)
|
|
|
|
NM_181426.2(CCDC39):c.552A>G (p.Glu184=)
|
rs767844733
|
|
|
NM_181426.2(CCDC39):c.570G>A (p.Lys190=)
|
rs1296379276
|
|
|
NM_181426.2(CCDC39):c.570G>T (p.Lys190Asn)
|
rs1296379276
|
|
|
NM_181426.2(CCDC39):c.570_571del (p.Lys190fs)
|
rs1560092160
|
|
|
NM_181426.2(CCDC39):c.582C>T (p.Asn194=)
|
|
|
|
NM_181426.2(CCDC39):c.590_591dup (p.Glu198fs)
|
rs1553805740
|
|
|
NM_181426.2(CCDC39):c.597T>C (p.Thr199=)
|
rs2473823967
|
|
|
NM_181426.2(CCDC39):c.609+14A>C
|
|
|
|
NM_181426.2(CCDC39):c.610-16G>T
|
rs1351662479
|
|
|
NM_181426.2(CCDC39):c.610-20C>T
|
rs775380080
|
|
|
NM_181426.2(CCDC39):c.610-2A>C
|
rs756235547
|
|
|
NM_181426.2(CCDC39):c.610-7T>C
|
rs1576949405
|
|
|
NM_181426.2(CCDC39):c.610-8_610-5del
|
rs765786501
|
|
|
NM_181426.2(CCDC39):c.610-9G>C
|
rs777699746
|
|
|
NM_181426.2(CCDC39):c.610_613del
|
rs1415346246
|
|
|
NM_181426.2(CCDC39):c.63C>A (p.Asn21Lys)
|
rs775366536
|
|
|
NM_181426.2(CCDC39):c.63C>T (p.Asn21=)
|
rs775366536
|
|
|
NM_181426.2(CCDC39):c.640C>G (p.Arg214Gly)
|
rs749794148
|
|
|
NM_181426.2(CCDC39):c.640C>T (p.Arg214Cys)
|
rs749794148
|
|
|
NM_181426.2(CCDC39):c.64GAG[1] (p.Glu23del)
|
rs771715698
|
|
|
NM_181426.2(CCDC39):c.652A>G (p.Asn218Asp)
|
|
|
|
NM_181426.2(CCDC39):c.654T>C (p.Asn218=)
|
rs886058199
|
|
|
NM_181426.2(CCDC39):c.662_663del (p.Gln221fs)
|
rs1711686897
|
|
|
NM_181426.2(CCDC39):c.664_666del (p.Glu222del)
|
rs1711686691
|
|
|
NM_181426.2(CCDC39):c.666A>G (p.Glu222=)
|
rs771958857
|
|
|
NM_181426.2(CCDC39):c.668T>G (p.Leu223Arg)
|
|
|
|
NM_181426.2(CCDC39):c.706A>T (p.Lys236Ter)
|
rs1210959281
|
|
|
NM_181426.2(CCDC39):c.714T>C (p.Asp238=)
|
rs1214225117
|
|
|
NM_181426.2(CCDC39):c.721A>G (p.Ile241Val)
|
rs1711684068
|
|
|
NM_181426.2(CCDC39):c.723A>T (p.Ile241=)
|
rs1711683926
|
|
|
NM_181426.2(CCDC39):c.729C>T (p.Asn243=)
|
|
|
|
NM_181426.2(CCDC39):c.72C>T (p.Asn24=)
|
rs2473845928
|
|
|
NM_181426.2(CCDC39):c.738+7T>C
|
rs2473823548
|
|
|
NM_181426.2(CCDC39):c.739-13G>A
|
rs1711547111
|
|
|
NM_181426.2(CCDC39):c.739-17_739-16del
|
rs2473817781
|
|
|
NM_181426.2(CCDC39):c.739-4C>G
|
|
|
|
NM_181426.2(CCDC39):c.739-4C>T
|
|
|
|
NM_181426.2(CCDC39):c.739-7A>G
|
rs2108426504
|
|
|
NM_181426.2(CCDC39):c.74del (p.Lys25fs)
|
rs759007326
|
|
|
NM_181426.2(CCDC39):c.765G>T (p.Thr255=)
|
rs772215910
|
|
|
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.79C>T (p.Leu27=)
|
rs779245338
|
|
|
NM_181426.2(CCDC39):c.7A>C (p.Ser3Arg)
|
rs757699907
|
|
|
NM_181426.2(CCDC39):c.801G>A (p.Lys267=)
|
rs2473817674
|
|
|
NM_181426.2(CCDC39):c.811A>G (p.Ser271Gly)
|
rs201699189
|
|
|
NM_181426.2(CCDC39):c.811del (p.Ser271fs)
|
rs1253995342
|
|
|
NM_181426.2(CCDC39):c.813T>C (p.Ser271=)
|
rs754453046
|
|
|
NM_181426.2(CCDC39):c.816G>A (p.Glu272=)
|
rs775659100
|
|
|
NM_181426.2(CCDC39):c.81G>A (p.Leu27=)
|
rs1712325226
|
|
|
NM_181426.2(CCDC39):c.822G>A (p.Gly274=)
|
rs1711545270
|
|
|
NM_181426.2(CCDC39):c.827A>G (p.Asn276Ser)
|
|
|
|
NM_181426.2(CCDC39):c.830C>T (p.Thr277Ile)
|
rs1711545165
|
|
|
NM_181426.2(CCDC39):c.830_831del (p.Thr277fs)
|
rs773801386
|
|
|
NM_181426.2(CCDC39):c.831A>T (p.Thr277=)
|
|
|
|
NM_181426.2(CCDC39):c.840_841del (p.Arg282fs)
|
rs2473817613
|
|
|
NM_181426.2(CCDC39):c.841A>T (p.Lys281Ter)
|
rs376352893
|
|
|
NM_181426.2(CCDC39):c.852T>C (p.Ser284=)
|
rs1200419136
|
|
|
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.861T>C (p.Asp287=)
|
rs2473817594
|
|
|
NM_181426.2(CCDC39):c.866A>T (p.Lys289Ile)
|
|
|
|
NM_181426.2(CCDC39):c.873A>G (p.Leu291=)
|
rs2473817567
|
|
|
NM_181426.2(CCDC39):c.891T>G (p.Tyr297Ter)
|
rs2473817538
|
|
|
NM_181426.2(CCDC39):c.892C>T (p.Gln298Ter)
|
|
|
|
NM_181426.2(CCDC39):c.90+12T>A
|
rs2473845866
|
|
|
NM_181426.2(CCDC39):c.90+16G>T
|
rs2473845858
|
|
|
NM_181426.2(CCDC39):c.90+17C>G
|
rs778294268
|
|
|
NM_181426.2(CCDC39):c.90+7T>G
|
rs1477817614
|
|
|
NM_181426.2(CCDC39):c.904A>G (p.Thr302Ala)
|
rs1711543464
|
|
|
NM_181426.2(CCDC39):c.91-17G>A
|
rs2473828829
|
|
|
NM_181426.2(CCDC39):c.918G>A (p.Gln306=)
|
rs2473817507
|
|
|
NM_181426.2(CCDC39):c.930+12C>A
|
rs1401333
|
|
|
NM_181426.2(CCDC39):c.930+17_930+18del
|
rs765920330
|
|
|
NM_181426.2(CCDC39):c.930+1G>A
|
rs1711543098
|
|
|
NM_181426.2(CCDC39):c.930+9A>G
|
rs188183242
|
|
|
NM_181426.2(CCDC39):c.930+9A>T
|
rs188183242
|
|
|
NM_181426.2(CCDC39):c.931-10TAA[3]
|
rs1711503053
|
|
|
NM_181426.2(CCDC39):c.931-1G>T
|
rs1711503031
|
|
|
NM_181426.2(CCDC39):c.931-20G>C
|
rs1167101999
|
|
|
NM_181426.2(CCDC39):c.931-20G>T
|
rs1167101999
|
|
|
NM_181426.2(CCDC39):c.931-9A>G
|
rs2473814607
|
|
|
NM_181426.2(CCDC39):c.934G>T (p.Asp312Tyr)
|
rs1461822875
|
|
|
NM_181426.2(CCDC39):c.945_951del (p.Lys315_Ala316insTer)
|
rs1560090006
|
|
|
NM_181426.2(CCDC39):c.949dup (p.Thr317fs)
|
rs2526286396
|
|
|
NM_181426.2(CCDC39):c.954G>A (p.Val318=)
|
rs1439120562
|
|
|
NM_181426.2(CCDC39):c.95C>G (p.Ser32Ter)
|
rs992409739
|
|
|
NM_181426.2(CCDC39):c.985A>G (p.Arg329Gly)
|
rs2473814519
|
|
|
NM_181426.2(CCDC39):c.991A>T (p.Asn331Tyr)
|
rs1553804772
|
|
|
NM_213607.3(DNAAF19):c.*789C>T
|
rs144369192
|
|
|
NM_213607.3(DNAAF19):c.115C>T (p.Gln39Ter)
|
rs1060503433
|
|
|
NM_213607.3(DNAAF19):c.129C>T (p.Ser43=)
|
rs2508892435
|
|
|
NM_213607.3(DNAAF19):c.143+8C>T
|
rs2508892604
|
|
|
NM_213607.3(DNAAF19):c.144-12C>T
|
rs1308022086
|
|
|
NM_213607.3(DNAAF19):c.144-1G>T
|
rs747091524
|
|
|
NM_213607.3(DNAAF19):c.146G>A (p.Gly49Asp)
|
rs148724732
|
|
|
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.223_226dup (p.His76fs)
|
rs1597843267
|
|
|
NM_213607.3(DNAAF19):c.226C>T (p.His76Tyr)
|
rs758749891
|
|
|
NM_213607.3(DNAAF19):c.241A>C (p.Arg81=)
|
rs2051549079
|
|
|
NM_213607.3(DNAAF19):c.246C>A (p.Thr82=)
|
rs2508896353
|
|
|
NM_213607.3(DNAAF19):c.264T>C (p.Thr88=)
|
rs746143004
|
|
|
NM_213607.3(DNAAF19):c.273C>T (p.Ser91=)
|
rs2051549966
|
|
|
NM_213607.3(DNAAF19):c.276+12C>T
|
rs111976352
|
|
|
NM_213607.3(DNAAF19):c.276+19C>T
|
rs2051551098
|
|
|
NM_213607.3(DNAAF19):c.276+19del
|
rs1435243586
|
|
|
NM_213607.3(DNAAF19):c.276+1G>A
|
rs1567763865
|
|
|
NM_213607.3(DNAAF19):c.276+1G>C
|
rs1567763865
|
|
|
NM_213607.3(DNAAF19):c.276+1_277-298del
|
rs2051550027
|
|
|
NM_213607.3(DNAAF19):c.276+4G>T
|
rs373891184
|
|
|
NM_213607.3(DNAAF19):c.276G>A (p.Pro92=)
|
rs749064353
|
|
|
NM_213607.3(DNAAF19):c.277-8T>C
|
rs1317367290
|
|
|
NM_213607.3(DNAAF19):c.288C>A (p.Pro96=)
|
rs150862706
|
|
|
NM_213607.3(DNAAF19):c.288C>T (p.Pro96=)
|
rs150862706
|
|
|
NM_213607.3(DNAAF19):c.289dup (p.Leu97fs)
|
rs1292757961
|
|
|
NM_213607.3(DNAAF19):c.297C>G (p.Pro99=)
|
rs112994687
|
|
|
NM_213607.3(DNAAF19):c.297C>T (p.Pro99=)
|
rs112994687
|
|
|
NM_213607.3(DNAAF19):c.298G>T (p.Glu100Ter)
|
rs759224168
|
|
|
NM_213607.3(DNAAF19):c.305C>T (p.Ser102Phe)
|
rs1220315388
|
|
|
NM_213607.3(DNAAF19):c.306T>G (p.Ser102=)
|
rs2508899995
|
|
|
NM_213607.3(DNAAF19):c.321T>C (p.Arg107=)
|
rs2508900073
|
|
|
NM_213607.3(DNAAF19):c.325T>G (p.Trp109Gly)
|
rs780151272
|
|
|
NM_213607.3(DNAAF19):c.327G>A (p.Trp109Ter)
|
rs2508900110
|
|
|
NM_213607.3(DNAAF19):c.332G>A (p.Arg111Gln)
|
rs367570529
|
|
|
NM_213607.3(DNAAF19):c.332G>T (p.Arg111Leu)
|
rs367570529
|
|
|
NM_213607.3(DNAAF19):c.336C>T (p.His112=)
|
rs770417283
|
|
|
NM_213607.3(DNAAF19):c.343A>T (p.Ser115Cys)
|
rs2508900148
|
|
|
NM_213607.3(DNAAF19):c.359dup (p.Tyr120Ter)
|
rs2508900227
|
|
|
NM_213607.3(DNAAF19):c.367C>T (p.Leu123=)
|
rs2508900256
|
|
|
NM_213607.3(DNAAF19):c.402C>T (p.Leu134=)
|
rs753965044
|
|
|
NM_213607.3(DNAAF19):c.436G>T (p.Glu146Ter)
|
rs2508900598
|
|
|
NM_213607.3(DNAAF19):c.448G>T (p.Ala150Ser)
|
rs2508900661
|
|
|
NM_213607.3(DNAAF19):c.48G>A (p.Leu16=)
|
rs1311651214
|
|
|
NM_213607.3(DNAAF19):c.512C>T (p.Ala171Val)
|
rs756958260
|
|
|
NM_213607.3(DNAAF19):c.519T>C (p.Thr173=)
|
rs1440885053
|
|
|
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.547C>T (p.Leu183=)
|
rs1209670702
|
|
|
NM_213607.3(DNAAF19):c.548T>A (p.Leu183Gln)
|
rs2508901259
|
|
|
NM_213607.3(DNAAF19):c.555G>A (p.Arg185=)
|
rs2508901301
|
|
|
NM_213607.3(DNAAF19):c.558A>G (p.Ala186=)
|
rs1034464450
|
|
|
NM_213607.3(DNAAF19):c.566_569del (p.Glu189fs)
|
rs746242380
|
|
|
NM_213607.3(DNAAF19):c.568_569dup (p.Ser190fs)
|
rs746242380
|
|
|
NM_213607.3(DNAAF19):c.571T>C (p.Cys191Arg)
|
rs2051580311
|
|
|
NM_213607.3(DNAAF19):c.59T>C (p.Leu20Pro)
|
rs2145607592
|
|
|
NM_213607.3(DNAAF19):c.603G>T (p.Met201Ile)
|
rs1270530658
|
|
|
NM_213607.3(DNAAF19):c.606C>A (p.Gly202=)
|
rs763062802
|
|
|
NM_213607.3(DNAAF19):c.630G>A (p.Gly210=)
|
rs2508901734
|
|
|
NM_213607.3(DNAAF19):c.633C>T (p.Leu211=)
|
rs1220246984
|
|
|
NM_213607.3(DNAAF19):c.648G>A (p.Gln216=)
|
rs2508901846
|
|
|
NM_213607.3(DNAAF19):c.649G>T (p.Gly217Cys)
|
rs753349530
|
|
|
NM_213607.3(DNAAF19):c.657G>A (p.Glu219=)
|
rs1163451052
|
|
|
NM_213607.3(DNAAF19):c.66T>A (p.Ala22=)
|
rs138770639
|
|
|
NM_213607.3(DNAAF19):c.69T>C (p.Asp23=)
|
rs2508891752
|
|
|
NM_213607.3(DNAAF19):c.711G>A (p.Glu237=)
|
rs2508902242
|
|
|
NM_213607.3(DNAAF19):c.717C>T (p.Tyr239=)
|
rs1342819699
|
|
|
NM_213607.3(DNAAF19):c.78C>T (p.Tyr26=)
|
rs2051529733
|
|
|
NM_213607.3(DNAAF19):c.81A>G (p.Lys27=)
|
rs1567763166
|
|