NM_001277115.2(DNAH11):c.3068T>C (p.Val1023Ala)
|
rs10269582
|
0.34362
|
NM_018719.5(CDCA7L):c.*980T>C
|
rs7971
|
0.27747
|
NM_002055.5(GFAP):c.*28C>G
|
rs11558961
|
0.27601
|
NM_213607.3(CCDC103):c.*4G>A
|
rs8079308
|
0.26209
|
NM_002055.5(GFAP):c.*1522T>C
|
rs17027
|
0.26200
|
NM_213607.2(CCDC103):c.-164T>G
|
rs2277617
|
0.25672
|
NM_001277115.2(DNAH11):c.5621+11A>T
|
rs59447021
|
0.23311
|
NM_001277115.2(DNAH11):c.7335G>A (p.Ser2445=)
|
rs11768670
|
0.20699
|
NM_018719.5(CDCA7L):c.*501T>C
|
rs12700325
|
0.20592
|
NM_012144.4(DNAI1):c.1003G>A (p.Val335Ile)
|
rs11793196
|
0.20136
|
NM_000152.5(GAA):c.-260G>C
|
rs2304849
|
0.16933
|
NM_012472.6(DNAAF11):c.1397T>C (p.Ile466Thr)
|
rs9297853
|
0.15619
|
NM_001277115.2(DNAH11):c.1916A>G (p.Gln639Arg)
|
rs12670130
|
0.14853
|
NM_002055.5(GFAP):c.*338C>T
|
rs8067254
|
0.14346
|
NM_001277115.2(DNAH11):c.11202+13G>A
|
rs73279830
|
0.13824
|
NM_213607.3(CCDC103):c.276+6T>C
|
rs74349463
|
0.12539
|
NM_002055.5(GFAP):c.*814T>A
|
rs3744470
|
0.12217
|
NM_001277115.2(DNAH11):c.1065A>G (p.Pro355=)
|
rs4392792
|
0.12205
|
NM_001277115.2(DNAH11):c.7570T>C (p.Leu2524=)
|
rs2072220
|
0.11781
|
NM_001277115.2(DNAH11):c.5490G>A (p.Leu1830=)
|
rs55666134
|
0.11626
|
NM_001277115.2(DNAH11):c.1961C>G (p.Ser654Cys)
|
rs62441683
|
0.11359
|
NM_002055.5(GFAP):c.*1001G>A
|
rs1042329
|
0.10683
|
NM_002055.5(GFAP):c.*1620C>T
|
rs7049
|
0.10679
|
NM_001277115.2(DNAH11):c.3256-10C>G
|
rs17745898
|
0.10468
|
NM_001277115.2(DNAH11):c.54C>T (p.Thr18=)
|
rs2285942
|
0.09968
|
NM_001277115.2(DNAH11):c.11272T>C (p.Ser3758Pro)
|
rs17145720
|
0.08574
|
NM_000363.5(TNNI3):c.-35C>A
|
rs3729707
|
0.07367
|
NM_000363.5(TNNI3):c.150+13G>A
|
rs73617692
|
0.07353
|
NM_001277115.2(DNAH11):c.2835A>G (p.Gln945=)
|
rs17144747
|
0.07116
|
NM_001277115.2(DNAH11):c.13502A>G (p.Lys4501Arg)
|
rs77448980
|
0.06056
|
NM_001256715.2(DNAAF3):c.510A>G (p.Val170=)
|
rs56726774
|
0.06016
|
NM_001256715.2(DNAAF3):c.1001T>C (p.Leu334Pro)
|
rs890871
|
0.05642
|
NM_001256715.2(DNAAF3):c.327A>G (p.Arg109=)
|
rs3848618
|
0.05626
|
NM_001256715.2(DNAAF3):c.529G>A (p.Gly177Ser)
|
rs58824375
|
0.05620
|
NM_017950.3(CCDC40):c.-36C>T
|
rs73437681
|
0.05525
|
NM_001277115.2(DNAH11):c.4904A>G (p.Asp1635Gly)
|
rs17144835
|
0.05345
|
NM_001277115.2(DNAH11):c.11325G>A (p.Ala3775=)
|
rs12666072
|
0.05248
|
NM_178452.6(DNAAF1):c.-83dup
|
rs149813685
|
0.04983
|
NM_000363.5(TNNI3):c.537G>A (p.Glu179=)
|
rs3729841
|
0.04860
|
NM_031427.4(DNAL1):c.*7710_*7711dup
|
rs201343251
|
0.04579
|
NM_001277115.2(DNAH11):c.1702G>A (p.Ala568Thr)
|
rs72655988
|
0.04164
|
NM_001277115.2(DNAH11):c.1199C>T (p.Thr400Ile)
|
rs72655982
|
0.04096
|
NM_000363.5(TNNI3):c.204G>T (p.Arg68=)
|
rs3729711
|
0.04033
|
NM_001277115.2(DNAH11):c.7756T>C (p.Tyr2586His)
|
rs2003417
|
0.03504
|
NM_001277115.2(DNAH11):c.12508-12T>C
|
rs72658822
|
0.03145
|
NM_001277115.2(DNAH11):c.12288G>A (p.Arg4096=)
|
rs72658820
|
0.03062
|
NM_001277115.2(DNAH11):c.13547C>T (p.Ala4516Val)
|
rs72658840
|
0.02832
|
NM_012144.4(DNAI1):c.1460T>G (p.Val487Gly)
|
rs11999454
|
0.02757
|
NM_000152.5(GAA):c.-178G>A
|
rs77514632
|
0.02487
|
NM_000152.5(GAA):c.-338C>G
|
rs144639114
|
0.02435
|
NM_012472.6(DNAAF11):c.283C>T (p.Leu95=)
|
rs74599901
|
0.02427
|
NM_001369.3(DNAH5):c.2578-7T>G
|
rs201833201
|
0.02378
|
NM_017950.4(CCDC40):c.*654A>C
|
rs2289538
|
0.02366
|
NM_001277115.2(DNAH11):c.421G>T (p.Asp141Tyr)
|
rs72655969
|
0.02191
|
NM_012144.4(DNAI1):c.378A>G (p.Glu126=)
|
rs3818577
|
0.02063
|
NM_012144.4(DNAI1):c.-178G>C
|
rs3802429
|
0.01938
|
NM_017950.4(CCDC40):c.*265C>T
|
rs74000393
|
0.01774
|
NM_002408.4(MGAT2):c.261G>T (p.Leu87=)
|
rs2228449
|
0.01763
|
NM_018719.5(CDCA7L):c.*1052G>A
|
rs72658841
|
0.01754
|
NM_001277115.2(DNAH11):c.9098T>C (p.Ile3033Thr)
|
rs28751578
|
0.01743
|
NM_001277115.2(DNAH11):c.9337-9T>C
|
rs72657378
|
0.01332
|
NM_023036.6(DNAI2):c.590A>T (p.Asp197Val)
|
rs35636875
|
0.01015
|
NM_001369.3(DNAH5):c.3987A>G (p.Lys1329=)
|
rs146191243
|
0.01011
|
NM_023036.6(DNAI2):c.234G>A (p.Glu78=)
|
rs35985071
|
0.00904
|
NM_001277115.2(DNAH11):c.576A>G (p.Ile192Met)
|
rs72655972
|
0.00876
|
NM_001034853.2(RPGR):c.2411G>A (p.Arg804Lys)
|
rs147388235
|
0.00850
|
NM_017950.4(CCDC40):c.3340G>A (p.Val1114Met)
|
rs61740509
|
0.00831
|
NM_001010892.3(RSPH4A):c.1731A>G (p.Lys577=)
|
rs73765819
|
0.00679
|
NM_001277115.2(DNAH11):c.6117G>A (p.Ala2039=)
|
rs78763603
|
0.00628
|
NM_012144.4(DNAI1):c.179C>T (p.Ala60Val)
|
rs16931549
|
0.00609
|
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_145038.5(DRC1):c.1824G>A (p.Glu608=)
|
rs1402962
|
0.00567
|
NM_001034853.2(RPGR):c.2853G>A (p.Glu951=)
|
rs766376194
|
0.00481
|
NM_018139.3(DNAAF2):c.1494G>A (p.Ser498=)
|
rs2985688
|
0.00470
|
NM_001277115.2(DNAH11):c.2275-15G>T
|
rs60290948
|
0.00458
|
NM_023036.6(DNAI2):c.747C>T (p.Gly249=)
|
rs148488355
|
0.00458
|
NM_001277115.2(DNAH11):c.4726-15T>C
|
rs17144822
|
0.00445
|
NM_002055.5(GFAP):c.*1074C>T
|
rs117405516
|
0.00442
|
NM_001369.3(DNAH5):c.5281C>G (p.Arg1761Gly)
|
rs148891849
|
0.00388
|
NM_018076.5(ODAD2):c.1017C>T (p.Leu339=)
|
rs117723546
|
0.00375
|
NM_017950.4(CCDC40):c.3424T>C (p.Ser1142Pro)
|
rs148900528
|
0.00366
|
NM_017950.4(CCDC40):c.3349G>A (p.Glu1117Lys)
|
rs145595957
|
0.00365
|
NM_001369.3(DNAH5):c.8757G>C (p.Glu2919Asp)
|
rs115776799
|
0.00334
|
NM_001190787.3(MCIDAS):c.739C>T (p.Arg247Trp)
|
rs199825346
|
0.00332
|
NM_018076.5(ODAD2):c.2127C>T (p.Leu709=)
|
rs111586634
|
0.00328
|
NM_023036.6(DNAI2):c.468-4G>T
|
rs146462823
|
0.00321
|
NM_003114.5(SPAG1):c.1542G>A (p.Leu514=)
|
rs117747863
|
0.00319
|
NM_181426.2(CCDC39):c.1433A>G (p.Gln478Arg)
|
rs115545935
|
0.00314
|
NM_001277115.2(DNAH11):c.3237T>C (p.Leu1079=)
|
rs72657304
|
0.00308
|
NM_018076.5(ODAD2):c.995A>G (p.Lys332Arg)
|
rs148930400
|
0.00307
|
NM_003114.5(SPAG1):c.1103C>T (p.Ala368Val)
|
rs752257877
|
0.00306
|
NM_017950.4(CCDC40):c.2017G>A (p.Asp673Asn)
|
rs115850223
|
0.00301
|
NM_001010892.3(RSPH4A):c.675G>T (p.Ser225=)
|
rs79327004
|
0.00290
|
NM_001369.3(DNAH5):c.5266G>A (p.Glu1756Lys)
|
rs116524991
|
0.00282
|
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_181426.2(CCDC39):c.1198G>T (p.Gly400Cys)
|
rs147383873
|
0.00265
|
NM_178452.6(DNAAF1):c.1496C>T (p.Pro499Leu)
|
rs112114400
|
0.00262
|
NM_017802.4(DNAAF5):c.2564A>G (p.Gln855Arg)
|
rs78491700
|
0.00255
|
NM_003114.5(SPAG1):c.1226C>G (p.Thr409Ser)
|
rs544372581
|
0.00250
|
NM_001369.3(DNAH5):c.12346A>G (p.Ile4116Val)
|
rs34920399
|
0.00249
|
NM_178452.6(DNAAF1):c.1718T>C (p.Ile573Thr)
|
rs137862641
|
0.00237
|
NM_178452.6(DNAAF1):c.1245C>G (p.Thr415=)
|
rs147804813
|
0.00233
|
NM_001369.3(DNAH5):c.624C>T (p.Asn208=)
|
rs139640247
|
0.00228
|
NM_018076.5(ODAD2):c.27G>A (p.Thr9=)
|
rs139724964
|
0.00224
|
NM_018139.3(DNAAF2):c.1405T>A (p.Cys469Ser)
|
rs202079418
|
0.00223
|
NM_001206927.2(DNAH8):c.10678G>A (p.Ala3560Thr)
|
rs141263020
|
0.00219
|
NM_001206927.2(DNAH8):c.9574A>G (p.Met3192Val)
|
rs140935840
|
0.00213
|
NM_001277115.2(DNAH11):c.13076G>A (p.Arg4359Gln)
|
rs113653972
|
0.00212
|
NM_017802.4(DNAAF5):c.1432G>A (p.Glu478Lys)
|
rs118139460
|
0.00208
|
NM_001190787.3(MCIDAS):c.856G>A (p.Glu286Lys)
|
rs185737637
|
0.00207
|
NM_001206927.2(DNAH8):c.13381C>T (p.Arg4461Cys)
|
rs143714496
|
0.00205
|
NM_001369.3(DNAH5):c.9355A>G (p.Lys3119Glu)
|
rs76690956
|
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_016616.5(NME8):c.126C>T (p.Cys42=)
|
rs138311368
|
0.00201
|
NM_003114.5(SPAG1):c.2479C>T (p.His827Tyr)
|
rs6510
|
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.5527G>C (p.Asp1843His)
|
rs61758415
|
0.00195
|
NM_001010892.3(RSPH4A):c.2101G>C (p.Glu701Gln)
|
rs140660854
|
0.00194
|
NM_001034853.2(RPGR):c.732G>A (p.Lys244=)
|
rs62638654
|
0.00191
|
NM_178452.6(DNAAF1):c.303G>C (p.Lys101Asn)
|
rs140386513
|
0.00190
|
NM_001277115.2(DNAH11):c.3870G>C (p.Glu1290Asp)
|
rs200954442
|
0.00189
|
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_018076.5(ODAD2):c.390A>G (p.Arg130=)
|
rs12777433
|
0.00184
|
NM_001369.3(DNAH5):c.9244C>A (p.Leu3082Ile)
|
rs147372600
|
0.00180
|
NM_001369.3(DNAH5):c.9941G>A (p.Arg3314His)
|
rs143858741
|
0.00180
|
NM_178452.6(DNAAF1):c.1664A>T (p.Asp555Val)
|
rs145973397
|
0.00178
|
NM_181426.2(CCDC39):c.2534T>C (p.Ile845Thr)
|
rs139560004
|
0.00177
|
NM_001369.3(DNAH5):c.1356G>A (p.Lys452=)
|
rs144748846
|
0.00176
|
NM_001369.3(DNAH5):c.3734G>A (p.Arg1245His)
|
rs77939839
|
0.00172
|
NM_001364171.2(ODAD1):c.1481C>T (p.Pro494Leu)
|
rs148823991
|
0.00171
|
NM_001206927.2(DNAH8):c.2174C>G (p.Ala725Gly)
|
rs61757621
|
0.00170
|
NM_001206927.2(DNAH8):c.13823C>T (p.Thr4608Met)
|
rs142438011
|
0.00168
|
NM_001277115.2(DNAH11):c.12175G>A (p.Ala4059Thr)
|
rs142372794
|
0.00168
|
NM_178452.6(DNAAF1):c.1567G>A (p.Val523Ile)
|
rs148387367
|
0.00167
|
NM_001277115.2(DNAH11):c.8533C>G (p.Arg2845Gly)
|
rs121908854
|
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_213607.3(CCDC103):c.627G>A (p.Glu209=)
|
rs200474997
|
0.00161
|
NM_018076.5(ODAD2):c.1207T>A (p.Ser403Thr)
|
rs150723128
|
0.00160
|
NM_181426.2(CCDC39):c.272A>G (p.Gln91Arg)
|
rs201157338
|
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_012144.4(DNAI1):c.1902C>T (p.His634=)
|
rs139197229
|
0.00156
|
NM_181426.2(CCDC39):c.880A>G (p.Arg294Gly)
|
rs61733577
|
0.00156
|
NM_001369.3(DNAH5):c.6529G>C (p.Glu2177Gln)
|
rs116069486
|
0.00153
|
NM_001256715.2(DNAAF3):c.913-8A>G
|
rs71367156
|
0.00151
|
NM_001277115.2(DNAH11):c.10350C>G (p.Thr3450=)
|
rs200603138
|
0.00151
|
NM_001277115.2(DNAH11):c.6970C>G (p.Leu2324Val)
|
rs201323940
|
0.00150
|
NM_021147.5(CCNO):c.134C>A (p.Pro45His)
|
rs139606873
|
0.00150
|
NM_001277115.2(DNAH11):c.3466G>A (p.Gly1156Arg)
|
rs183521702
|
0.00149
|
NM_001364171.2(ODAD1):c.582C>T (p.Asp194=)
|
rs190978775
|
0.00149
|
NM_001206927.2(DNAH8):c.13214C>T (p.Thr4405Met)
|
rs115630842
|
0.00146
|
NM_001206927.2(DNAH8):c.6856A>G (p.Ser2286Gly)
|
rs113909197
|
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_001010892.3(RSPH4A):c.1080G>C (p.Leu360Phe)
|
rs111375012
|
0.00144
|
NM_001206927.2(DNAH8):c.5209C>T (p.Arg1737Cys)
|
rs146241522
|
0.00141
|
NM_001206927.2(DNAH8):c.9643A>T (p.Asn3215Tyr)
|
rs145107574
|
0.00140
|
NM_001369.3(DNAH5):c.7998G>T (p.Glu2666Asp)
|
rs148720124
|
0.00139
|
NM_001277115.2(DNAH11):c.4463C>T (p.Ser1488Phe)
|
rs200581574
|
0.00138
|
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_181426.2(CCDC39):c.1954C>T (p.Pro652Ser)
|
rs145506099
|
0.00136
|
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_001369.3(DNAH5):c.6039A>C (p.Arg2013=)
|
rs112102932
|
0.00132
|
NM_080860.4(RSPH1):c.870G>A (p.Met290Ile)
|
rs140450252
|
0.00132
|
NM_001256714.1(DNAAF3):c.2T>C (p.Met1Thr)
|
rs200365972
|
0.00131
|
NM_001369.3(DNAH5):c.8137C>T (p.Arg2713Cys)
|
rs111912673
|
0.00131
|
NM_001277115.2(DNAH11):c.2486G>A (p.Arg829His)
|
rs201261243
|
0.00129
|
NM_001369.3(DNAH5):c.7065T>C (p.Asp2355=)
|
rs149045168
|
0.00128
|
NM_001369.3(DNAH5):c.5944G>A (p.Ala1982Thr)
|
rs150814892
|
0.00127
|
NM_001010892.3(RSPH4A):c.1974A>G (p.Thr658=)
|
rs142977481
|
0.00126
|
NM_015896.4(ZMYND10):c.229G>A (p.Ala77Thr)
|
rs146847253
|
0.00126
|
NM_001369.3(DNAH5):c.1476G>A (p.Thr492=)
|
rs150994380
|
0.00124
|
NM_001369.3(DNAH5):c.2443T>A (p.Leu815Met)
|
rs149654950
|
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_001010892.3(RSPH4A):c.1990C>T (p.Pro664Ser)
|
rs146142715
|
0.00122
|
NM_012144.4(DNAI1):c.81+61A>G
|
rs192896482
|
0.00122
|
NM_001206927.2(DNAH8):c.10637T>C (p.Phe3546Ser)
|
rs142907521
|
0.00121
|
NM_001277115.2(DNAH11):c.13406G>A (p.Arg4469Lys)
|
rs183031009
|
0.00120
|
NM_001369.3(DNAH5):c.3775G>A (p.Ala1259Thr)
|
rs112217391
|
0.00120
|
NM_001190787.3(MCIDAS):c.1062C>T (p.Ser354=)
|
rs375687696
|
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_001369.3(DNAH5):c.8002G>A (p.Gly2668Arg)
|
rs147236883
|
0.00115
|
NM_018076.5(ODAD2):c.1228C>G (p.Gln410Glu)
|
rs531033796
|
0.00115
|
NM_181426.2(CCDC39):c.1865A>G (p.Glu622Gly)
|
rs200277460
|
0.00115
|
NM_018076.5(ODAD2):c.1353T>C (p.Tyr451=)
|
rs149432727
|
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_017950.4(CCDC40):c.648C>T (p.Asp216=)
|
rs375350606
|
0.00113
|
NM_001369.3(DNAH5):c.3650T>C (p.Ile1217Thr)
|
rs112124692
|
0.00112
|
NM_018139.3(DNAAF2):c.1459C>T (p.Arg487Cys)
|
rs141192321
|
0.00112
|
NM_003114.5(SPAG1):c.398G>A (p.Gly133Asp)
|
rs147984546
|
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_181426.2(CCDC39):c.1781C>T (p.Thr594Ile)
|
rs140505857
|
0.00109
|
NM_001277115.2(DNAH11):c.8279A>G (p.Gln2760Arg)
|
rs72657366
|
0.00108
|
NM_145038.5(DRC1):c.2166+6C>T
|
rs201547851
|
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_001364171.2(ODAD1):c.1425C>T (p.Asp475=)
|
rs150259992
|
0.00105
|
NM_080860.4(RSPH1):c.683C>T (p.Pro228Leu)
|
rs149604283
|
0.00104
|
NM_001277115.2(DNAH11):c.13257A>G (p.Gly4419=)
|
rs200445638
|
0.00103
|
NM_001206927.2(DNAH8):c.7471A>G (p.Ile2491Val)
|
rs148698911
|
0.00101
|
NM_017802.4(DNAAF5):c.2345A>G (p.Tyr782Cys)
|
rs61755909
|
0.00101
|
NM_001369.3(DNAH5):c.88C>T (p.Arg30Trp)
|
rs114220185
|
0.00096
|
NM_016616.5(NME8):c.610A>G (p.Ile204Val)
|
rs146777129
|
0.00094
|
NM_001277115.2(DNAH11):c.3765C>T (p.Asp1255=)
|
rs190062687
|
0.00092
|
NM_001277115.2(DNAH11):c.9773A>G (p.Tyr3258Cys)
|
rs182808328
|
0.00092
|
NM_001277115.2(DNAH11):c.9795G>T (p.Glu3265Asp)
|
rs200614172
|
0.00092
|
NM_023036.6(DNAI2):c.197G>T (p.Arg66Leu)
|
rs147470752
|
0.00092
|
NM_001256715.2(DNAAF3):c.284G>A (p.Ser95Asn)
|
rs148116155
|
0.00091
|
NM_017802.4(DNAAF5):c.385G>C (p.Val129Leu)
|
rs1031852692
|
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_001277115.2(DNAH11):c.5761G>A (p.Glu1921Lys)
|
rs199613080
|
0.00088
|
NM_018076.5(ODAD2):c.1709G>A (p.Arg570Gln)
|
rs140569195
|
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_001369.3(DNAH5):c.12349A>G (p.Ile4117Val)
|
rs145501076
|
0.00086
|
NM_001369.3(DNAH5):c.342C>T (p.Phe114=)
|
rs145920072
|
0.00086
|
NM_001369.3(DNAH5):c.8731A>G (p.Asn2911Asp)
|
rs142852982
|
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_016616.5(NME8):c.1317C>T (p.Thr439=)
|
rs144273423
|
0.00084
|
NM_017950.4(CCDC40):c.3249C>T (p.Tyr1083=)
|
rs145998578
|
0.00083
|
NM_018076.5(ODAD2):c.2935G>A (p.Val979Met)
|
rs150655393
|
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_012472.6(DNAAF11):c.719T>C (p.Leu240Ser)
|
rs147849568
|
0.00081
|
NM_017950.4(CCDC40):c.1201C>G (p.Leu401Val)
|
rs201126001
|
0.00081
|
NM_001277115.2(DNAH11):c.13049+15C>T
|
rs200860431
|
0.00080
|
NM_001277115.2(DNAH11):c.13548G>A (p.Ala4516=)
|
rs147454485
|
0.00080
|
NM_001277115.2(DNAH11):c.7325A>G (p.Lys2442Arg)
|
rs114286628
|
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_001364171.2(ODAD1):c.522G>A (p.Ala174=)
|
rs200360777
|
0.00079
|
NM_001369.3(DNAH5):c.1090-14G>T
|
rs150627172
|
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_001364171.2(ODAD1):c.1650C>T (p.Asp550=)
|
rs74722451
|
0.00077
|
NM_001369.3(DNAH5):c.9203A>G (p.Glu3068Gly)
|
rs141571121
|
0.00077
|
NM_001364171.2(ODAD1):c.1974C>T (p.Gly658=)
|
rs150335194
|
0.00076
|
NM_001369.3(DNAH5):c.1329G>A (p.Gln443=)
|
rs141621142
|
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_001034853.2(RPGR):c.2898G>A (p.Gly966=)
|
rs1064797363
|
0.00073
|
NM_001277115.2(DNAH11):c.12473G>A (p.Arg4158Gln)
|
rs182165265
|
0.00073
|
NM_001364171.2(ODAD1):c.1608G>A (p.Ala536=)
|
rs200022799
|
0.00073
|
NM_001277115.2(DNAH11):c.12328C>A (p.Pro4110Thr)
|
rs200821339
|
0.00072
|
NM_001364171.2(ODAD1):c.2056G>A (p.Val686Ile)
|
rs144128773
|
0.00072
|
NM_080860.4(RSPH1):c.907A>G (p.Arg303Gly)
|
rs150629342
|
0.00072
|
NM_178452.6(DNAAF1):c.1499C>G (p.Pro500Arg)
|
rs138838276
|
0.00072
|
NM_001206927.2(DNAH8):c.10794T>G (p.Leu3598=)
|
rs116250863
|
0.00071
|
NM_017802.4(DNAAF5):c.1687A>G (p.Ile563Val)
|
rs75829847
|
0.00071
|
NM_001277115.2(DNAH11):c.695C>T (p.Pro232Leu)
|
rs200454446
|
0.00070
|
NM_001369.3(DNAH5):c.10367C>T (p.Ala3456Val)
|
rs149956015
|
0.00070
|
NM_001369.3(DNAH5):c.4509C>T (p.Thr1503=)
|
rs138157585
|
0.00070
|
NM_017802.4(DNAAF5):c.1707G>T (p.Arg569=)
|
rs180946359
|
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_017950.4(CCDC40):c.699T>C (p.Asp233=)
|
rs9893189
|
0.00069
|
NM_145038.5(DRC1):c.1581G>T (p.Arg527Ser)
|
rs145400360
|
0.00069
|
NM_001206927.2(DNAH8):c.8747+12G>A
|
rs200650850
|
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_001034853.2(RPGR):c.2634G>A (p.Gly878=)
|
rs371230592
|
0.00067
|
NM_001369.3(DNAH5):c.1715T>G (p.Leu572Trp)
|
rs137878131
|
0.00067
|
NM_021147.5(CCNO):c.107G>A (p.Arg36His)
|
rs142265745
|
0.00067
|
NM_001010892.3(RSPH4A):c.307G>T (p.Asp103Tyr)
|
rs139745647
|
0.00066
|
NM_001364171.2(ODAD1):c.555C>T (p.Ile185=)
|
rs114554656
|
0.00066
|
NM_023036.6(DNAI2):c.1188G>A (p.Arg396=)
|
rs139935771
|
0.00066
|
NM_001369.3(DNAH5):c.2578-10T>G
|
rs756212532
|
0.00065
|
NM_003114.5(SPAG1):c.2601A>G (p.Ser867=)
|
rs138311726
|
0.00065
|
NM_001206927.2(DNAH8):c.9673C>A (p.Gln3225Lys)
|
rs138703233
|
0.00063
|
NM_012144.4(DNAI1):c.1173C>G (p.Ile391Met)
|
rs151097256
|
0.00063
|
NM_017802.4(DNAAF5):c.781G>A (p.Val261Ile)
|
rs138915052
|
0.00063
|
NM_178452.6(DNAAF1):c.432C>T (p.Ile144=)
|
rs143312655
|
0.00063
|
NM_017950.4(CCDC40):c.2968G>A (p.Asp990Asn)
|
rs200958035
|
0.00062
|
NM_001369.3(DNAH5):c.11231C>A (p.Thr3744Asn)
|
rs529225111
|
0.00061
|
NM_017802.4(DNAAF5):c.640C>G (p.Gln214Glu)
|
rs149980915
|
0.00061
|
NM_018139.3(DNAAF2):c.423C>T (p.Val141=)
|
rs373251065
|
0.00061
|
NM_181426.2(CCDC39):c.1861C>T (p.Arg621Trp)
|
rs771462228
|
0.00061
|
NM_012144.4(DNAI1):c.1570-7C>T
|
rs200144108
|
0.00060
|
NM_001206927.2(DNAH8):c.4800A>T (p.Arg1600Ser)
|
rs141012833
|
0.00059
|
NM_001277115.2(DNAH11):c.10740C>G (p.Arg3580=)
|
rs114916492
|
0.00059
|
NM_001369.3(DNAH5):c.1121T>C (p.Ile374Thr)
|
rs147499872
|
0.00059
|
NM_012144.4(DNAI1):c.40C>T (p.His14Tyr)
|
rs146501326
|
0.00059
|
NM_018076.5(ODAD2):c.583A>T (p.Ser195Cys)
|
rs138425193
|
0.00059
|
NM_181426.2(CCDC39):c.603C>T (p.Ser201=)
|
rs200422639
|
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_017950.4(CCDC40):c.2061G>A (p.Arg687=)
|
rs189617808
|
0.00058
|
NM_213607.3(CCDC103):c.275C>T (p.Pro92Leu)
|
rs142342712
|
0.00058
|
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.9410G>A (p.Cys3137Tyr)
|
rs143357437
|
0.00057
|
NM_021147.5(CCNO):c.264G>T (p.Gln88His)
|
rs200127292
|
0.00057
|
NM_181426.2(CCDC39):c.900T>A (p.His300Gln)
|
rs201684898
|
0.00057
|
NM_001034853.2(RPGR):c.2895G>A (p.Glu965=)
|
rs762437958
|
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.5643G>A (p.Thr1881=)
|
rs150429110
|
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_001369.3(DNAH5):c.9898-18G>A
|
rs181478641
|
0.00054
|
NM_015896.4(ZMYND10):c.564C>G (p.Leu188=)
|
rs144295551
|
0.00054
|
NM_017950.4(CCDC40):c.2226C>T (p.Ser742=)
|
rs72849355
|
0.00054
|
NM_001256715.2(DNAAF3):c.900C>T (p.Gly300=)
|
rs369275731
|
0.00053
|
NM_001364171.2(ODAD1):c.361-10T>C
|
rs141961809
|
0.00053
|
NM_012472.6(DNAAF11):c.949A>G (p.Ile317Val)
|
rs146067670
|
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_181426.2(CCDC39):c.162T>C (p.Ser54=)
|
rs201308407
|
0.00053
|
NM_001277115.2(DNAH11):c.4434C>T (p.His1478=)
|
rs139082783
|
0.00052
|
NM_001369.3(DNAH5):c.3777G>A (p.Ala1259=)
|
rs144893234
|
0.00052
|
NM_001369.3(DNAH5):c.6956C>T (p.Thr2319Met)
|
rs144983881
|
0.00052
|
NM_018139.3(DNAAF2):c.1463G>A (p.Gly488Glu)
|
rs200121200
|
0.00052
|
NM_018139.3(DNAAF2):c.1595A>G (p.Glu532Gly)
|
rs143210369
|
0.00052
|
NM_001206927.2(DNAH8):c.3017A>G (p.Lys1006Arg)
|
rs200071000
|
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_018076.5(ODAD2):c.378T>C (p.Val126=)
|
rs144145876
|
0.00051
|
NM_001206927.2(DNAH8):c.11701G>A (p.Ala3901Thr)
|
rs560568324
|
0.00050
|
NM_001206927.2(DNAH8):c.7335T>C (p.Ala2445=)
|
rs144391737
|
0.00050
|
NM_001369.3(DNAH5):c.1198G>A (p.Val400Met)
|
rs144575803
|
0.00050
|
NM_178452.6(DNAAF1):c.1495C>A (p.Pro499Thr)
|
rs201519478
|
0.00050
|
NM_001206927.2(DNAH8):c.8871T>A (p.Arg2957=)
|
rs200109265
|
0.00049
|
NM_001277115.2(DNAH11):c.7294C>T (p.Arg2432Trp)
|
rs188615176
|
0.00049
|
NM_001206927.2(DNAH8):c.4303-15T>C
|
rs201364154
|
0.00048
|
NM_001206927.2(DNAH8):c.8844T>C (p.Pro2948=)
|
rs138178449
|
0.00048
|
NM_001277115.2(DNAH11):c.6352G>A (p.Gly2118Ser)
|
rs72657342
|
0.00048
|
NM_001369.3(DNAH5):c.1882T>G (p.Leu628Val)
|
rs143745645
|
0.00048
|
NM_012144.4(DNAI1):c.1145G>A (p.Ser382Asn)
|
rs141690214
|
0.00048
|
NM_001277115.2(DNAH11):c.4576T>C (p.Leu1526=)
|
rs199559539
|
0.00047
|
NM_001206927.2(DNAH8):c.13992G>C (p.Leu4664=)
|
rs371719991
|
0.00046
|
NM_001369.3(DNAH5):c.3534C>T (p.Asn1178=)
|
rs151274810
|
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_181426.2(CCDC39):c.1818T>C (p.His606=)
|
rs199503571
|
0.00046
|
NM_001034853.2(RPGR):c.222C>T (p.Ala74=)
|
rs143521661
|
0.00045
|
NM_001277115.2(DNAH11):c.4185G>A (p.Arg1395=)
|
rs113853066
|
0.00044
|
NM_001369.3(DNAH5):c.1250C>G (p.Thr417Ser)
|
rs149202369
|
0.00044
|
NM_001369.3(DNAH5):c.917G>A (p.Ser306Asn)
|
rs144128250
|
0.00044
|
NM_018139.3(DNAAF2):c.1417C>T (p.Arg473Trp)
|
rs200327783
|
0.00044
|
NM_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_001364171.2(ODAD1):c.1502+8G>A
|
rs370587770
|
0.00043
|
NM_012144.4(DNAI1):c.1365A>G (p.Ser455=)
|
rs376496298
|
0.00043
|
NM_023036.6(DNAI2):c.1380G>T (p.Val460=)
|
rs148947094
|
0.00043
|
NM_001206927.2(DNAH8):c.12951+15G>T
|
rs367661246
|
0.00042
|
NM_001277115.2(DNAH11):c.8521A>G (p.Ser2841Gly)
|
rs199789835
|
0.00042
|
NM_001369.3(DNAH5):c.1114A>G (p.Thr372Ala)
|
rs140227610
|
0.00042
|
NM_003114.5(SPAG1):c.205G>A (p.Ala69Thr)
|
rs149271265
|
0.00042
|
NM_018076.5(ODAD2):c.960G>A (p.Gln320=)
|
rs146568420
|
0.00042
|
NM_001206927.2(DNAH8):c.13722C>G (p.Leu4574=)
|
rs45600141
|
0.00041
|
NM_001206927.2(DNAH8):c.4503G>A (p.Leu1501=)
|
rs61757624
|
0.00041
|
NM_001206927.2(DNAH8):c.5958+9T>C
|
rs138219280
|
0.00040
|
NM_001206927.2(DNAH8):c.6612C>T (p.Ser2204=)
|
rs145106656
|
0.00040
|
NM_001369.3(DNAH5):c.8224+18G>A
|
rs183622722
|
0.00040
|
NM_001369.3(DNAH5):c.962C>T (p.Ser321Leu)
|
rs201077964
|
0.00040
|
NM_018139.3(DNAAF2):c.1785G>A (p.Val595=)
|
rs141689467
|
0.00040
|
NM_001034853.2(RPGR):c.1414+5C>T
|
rs367627674
|
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.9449G>A (p.Arg3150Gln)
|
rs181785201
|
0.00039
|
NM_001369.3(DNAH5):c.4525G>A (p.Val1509Met)
|
rs140345677
|
0.00039
|
NM_001369.3(DNAH5):c.6409C>A (p.Leu2137Ile)
|
rs181884470
|
0.00039
|
NM_017802.4(DNAAF5):c.550C>A (p.Arg184Ser)
|
rs878855039
|
0.00039
|
NM_017950.4(CCDC40):c.1520A>T (p.Lys507Met)
|
rs563467821
|
0.00039
|
NM_001277115.2(DNAH11):c.727A>G (p.Ile243Val)
|
rs189000268
|
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_001277115.2(DNAH11):c.11884G>A (p.Val3962Met)
|
rs199719583
|
0.00037
|
NM_001369.3(DNAH5):c.2067T>C (p.His689=)
|
rs140630779
|
0.00037
|
NM_001369.3(DNAH5):c.3179A>T (p.Lys1060Met)
|
rs145672251
|
0.00037
|
NM_001369.3(DNAH5):c.3843T>C (p.Tyr1281=)
|
rs146492613
|
0.00037
|
NM_001369.3(DNAH5):c.5528A>C (p.Glu1843Ala)
|
rs147599966
|
0.00037
|
NM_001034853.2(RPGR):c.2922G>A (p.Gly974=)
|
rs769179127
|
0.00036
|
NM_001206927.2(DNAH8):c.3740C>T (p.Pro1247Leu)
|
rs564472219
|
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.8804T>C (p.Met2935Thr)
|
rs750633804
|
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_018719.5(CDCA7L):c.*1333C>T
|
rs114694338
|
0.00036
|
NM_023036.6(DNAI2):c.1574C>T (p.Ala525Val)
|
rs145602856
|
0.00036
|
NM_178452.6(DNAAF1):c.1506G>A (p.Pro502=)
|
rs373515859
|
0.00036
|
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.7531C>T (p.Arg2511Trp)
|
rs564040169
|
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_080860.4(RSPH1):c.315C>T (p.Tyr105=)
|
rs144037391
|
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.12583C>T (p.Leu4195=)
|
rs200315521
|
0.00034
|
NM_001277115.2(DNAH11):c.12195+11G>A
|
rs369874287
|
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_016616.5(NME8):c.84C>T (p.Gly28=)
|
rs376117068
|
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_145038.5(DRC1):c.2075C>G (p.Thr692Ser)
|
rs201260214
|
0.00034
|
NM_181426.2(CCDC39):c.267T>C (p.Ile89=)
|
rs61733581
|
0.00034
|
NM_001206927.2(DNAH8):c.4512C>T (p.Thr1504=)
|
rs200564814
|
0.00033
|
NM_001256715.2(DNAAF3):c.1413C>T (p.Pro471=)
|
rs377325487
|
0.00033
|
NM_001256715.2(DNAAF3):c.705C>G (p.Asp235Glu)
|
rs371668705
|
0.00033
|
NM_001369.3(DNAH5):c.894C>G (p.Asn298Lys)
|
rs116995413
|
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_001277115.2(DNAH11):c.5266A>G (p.Ile1756Val)
|
rs201257328
|
0.00032
|
NM_001369.3(DNAH5):c.13073G>A (p.Arg4358Gln)
|
rs144949095
|
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_012472.6(DNAAF11):c.32G>A (p.Arg11Gln)
|
rs149894438
|
0.00032
|
NM_017802.4(DNAAF5):c.231G>A (p.Leu77=)
|
rs781235373
|
0.00032
|
NM_181426.2(CCDC39):c.2057A>G (p.Asn686Ser)
|
rs201586263
|
0.00032
|
NM_001206927.2(DNAH8):c.10773C>G (p.Phe3591Leu)
|
rs147574550
|
0.00031
|
NM_001277115.2(DNAH11):c.10692-7C>T
|
rs368833367
|
0.00031
|
NM_001277115.2(DNAH11):c.2682C>T (p.Leu894=)
|
rs149926178
|
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.8510+15C>G
|
rs370252599
|
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_001369.3(DNAH5):c.9995G>A (p.Arg3332Lys)
|
rs138968139
|
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_145038.5(DRC1):c.2076C>T (p.Thr692=)
|
rs141191674
|
0.00031
|
NM_001206927.2(DNAH8):c.9710T>C (p.Val3237Ala)
|
rs141147863
|
0.00030
|
NM_001256715.2(DNAAF3):c.1239-15G>A
|
rs199947168
|
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_001206927.2(DNAH8):c.14019C>G (p.Pro4673=)
|
rs142478578
|
0.00029
|
NM_001206927.2(DNAH8):c.9375G>A (p.Glu3125=)
|
rs142453787
|
0.00029
|
NM_001277115.2(DNAH11):c.13305C>T (p.Gly4435=)
|
rs150682314
|
0.00029
|
NM_001277115.2(DNAH11):c.794G>A (p.Arg265His)
|
rs192989152
|
0.00029
|
NM_001277115.2(DNAH11):c.8745C>A (p.Ala2915=)
|
rs532384466
|
0.00029
|
NM_001364171.2(ODAD1):c.576C>T (p.Asn192=)
|
rs549795539
|
0.00029
|
NM_001364171.2(ODAD1):c.705C>T (p.Arg235=)
|
rs368483838
|
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.975+6C>T
|
rs151000177
|
0.00029
|
NM_003114.5(SPAG1):c.957T>A (p.Val319=)
|
rs146528350
|
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_023036.6(DNAI2):c.1516C>A (p.Arg506=)
|
rs141581673
|
0.00029
|
NM_023036.6(DNAI2):c.828G>A (p.Thr276=)
|
rs149918986
|
0.00029
|
NM_001206927.2(DNAH8):c.1352T>C (p.Val451Ala)
|
rs200355421
|
0.00028
|
NM_001277115.2(DNAH11):c.13377C>T (p.Val4459=)
|
rs199706799
|
0.00028
|
NM_001277115.2(DNAH11):c.8973G>A (p.Thr2991=)
|
rs200978576
|
0.00028
|
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_001369.3(DNAH5):c.8247C>T (p.Tyr2749=)
|
rs367946282
|
0.00027
|
NM_080860.4(RSPH1):c.98G>A (p.Arg33His)
|
rs145742147
|
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_001190787.3(MCIDAS):c.210G>A (p.Ala70=)
|
rs775778104
|
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.1962+15C>A
|
rs192638290
|
0.00026
|
NM_001206927.2(DNAH8):c.4467-6T>G
|
rs373703082
|
0.00026
|
NM_001206927.2(DNAH8):c.737C>T (p.Ala246Val)
|
rs146560083
|
0.00026
|
NM_001206927.2(DNAH8):c.9064-20C>T
|
rs111463472
|
0.00026
|
NM_001277115.2(DNAH11):c.3139G>A (p.Glu1047Lys)
|
rs77008420
|
0.00026
|
NM_001277115.2(DNAH11):c.9465T>A (p.Ala3155=)
|
rs370662544
|
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.4961G>A (p.Arg1654Gln)
|
rs150868941
|
0.00026
|
NM_178452.6(DNAAF1):c.1350G>A (p.Pro450=)
|
rs148990251
|
0.00026
|
NM_001369.3(DNAH5):c.12523G>A (p.Val4175Met)
|
rs148123430
|
0.00025
|
NM_001369.3(DNAH5):c.7684A>T (p.Ile2562Phe)
|
rs151287187
|
0.00025
|
NM_017802.4(DNAAF5):c.1471-12G>A
|
rs370817681
|
0.00025
|
NM_023036.6(DNAI2):c.1065G>A (p.Lys355=)
|
rs551163932
|
0.00025
|
NM_001277115.2(DNAH11):c.3853-5C>G
|
rs367628980
|
0.00024
|
NM_001277115.2(DNAH11):c.4945-12T>C
|
rs141572016
|
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.12279+20T>G
|
rs201220143
|
0.00024
|
NM_001369.3(DNAH5):c.13174T>C (p.Phe4392Leu)
|
rs369714206
|
0.00024
|
NM_001369.3(DNAH5):c.6731A>T (p.Lys2244Met)
|
rs187023993
|
0.00024
|
NM_012472.6(DNAAF11):c.644A>G (p.Asn215Ser)
|
rs143717300
|
0.00024
|
NM_017802.4(DNAAF5):c.27C>T (p.Ala9=)
|
rs557885420
|
0.00024
|
NM_017950.4(CCDC40):c.384A>G (p.Ala128=)
|
rs375586063
|
0.00024
|
NM_018139.3(DNAAF2):c.972C>T (p.Tyr324=)
|
rs370818914
|
0.00024
|
NM_145038.5(DRC1):c.990C>T (p.Ser330=)
|
rs149344139
|
0.00024
|
NM_213607.3(CCDC103):c.31G>C (p.Ala11Pro)
|
rs146015856
|
0.00024
|
NM_001206927.2(DNAH8):c.14075C>T (p.Pro4692Leu)
|
rs147878071
|
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_001256715.2(DNAAF3):c.747T>C (p.His249=)
|
rs368667794
|
0.00023
|
NM_001277115.2(DNAH11):c.11107G>C (p.Glu3703Gln)
|
rs762297426
|
0.00023
|
NM_001277115.2(DNAH11):c.12601C>T (p.Pro4201Ser)
|
rs200166341
|
0.00023
|
NM_001277115.2(DNAH11):c.12899G>A (p.Arg4300His)
|
rs377388499
|
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_001369.3(DNAH5):c.10066T>C (p.Leu3356=)
|
rs138441172
|
0.00023
|
NM_018076.5(ODAD2):c.1869G>A (p.Thr623=)
|
rs189617150
|
0.00023
|
NM_178452.6(DNAAF1):c.735C>T (p.Pro245=)
|
rs139566676
|
0.00023
|
NM_001010892.3(RSPH4A):c.1245G>A (p.Gln415=)
|
rs139726443
|
0.00022
|
NM_001190787.3(MCIDAS):c.1050C>G (p.Thr350=)
|
rs751433727
|
0.00022
|
NM_001206927.2(DNAH8):c.9277A>G (p.Ile3093Val)
|
rs139533720
|
0.00022
|
NM_001256715.2(DNAAF3):c.1049-1G>A
|
rs199590885
|
0.00022
|
NM_001277115.2(DNAH11):c.1824A>G (p.Gln608=)
|
rs188265394
|
0.00022
|
NM_001277115.2(DNAH11):c.2102A>G (p.Asn701Ser)
|
rs369770445
|
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_001369.3(DNAH5):c.5196G>T (p.Ala1732=)
|
rs201484389
|
0.00022
|
NM_015896.4(ZMYND10):c.88G>A (p.Glu30Lys)
|
rs587731307
|
0.00022
|
NM_017950.4(CCDC40):c.1459G>A (p.Ala487Thr)
|
rs185157579
|
0.00022
|
NM_023036.6(DNAI2):c.1599C>T (p.Thr533=)
|
rs139915367
|
0.00022
|
NM_080860.4(RSPH1):c.732A>G (p.Ala244=)
|
rs141241740
|
0.00022
|
NM_145038.5(DRC1):c.2139G>A (p.Ala713=)
|
rs139421793
|
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_001034853.2(RPGR):c.1507-18A>G
|
rs113851995
|
0.00021
|
NM_001190787.3(MCIDAS):c.234C>T (p.Asp78=)
|
rs756870581
|
0.00021
|
NM_001206927.2(DNAH8):c.12008-8T>C
|
rs772870720
|
0.00021
|
NM_001206927.2(DNAH8):c.1548A>G (p.Ala516=)
|
rs146078369
|
0.00021
|
NM_001206927.2(DNAH8):c.725G>A (p.Arg242His)
|
rs142863013
|
0.00021
|
NM_001277115.2(DNAH11):c.13213C>T (p.Arg4405Cys)
|
rs371929703
|
0.00021
|
NM_001277115.2(DNAH11):c.2349T>A (p.Pro783=)
|
rs370930478
|
0.00021
|
NM_001277115.2(DNAH11):c.2419G>C (p.Asp807His)
|
rs369849556
|
0.00021
|
NM_001277115.2(DNAH11):c.2499C>T (p.Asn833=)
|
rs201231307
|
0.00021
|
NM_001277115.2(DNAH11):c.4254+13G>A
|
rs371484690
|
0.00021
|
NM_001277115.2(DNAH11):c.9925-7T>C
|
rs146815254
|
0.00021
|
NM_001369.3(DNAH5):c.1536+9C>T
|
rs766017243
|
0.00021
|
NM_001369.3(DNAH5):c.3760C>T (p.Arg1254Trp)
|
rs749162833
|
0.00021
|
NM_001369.3(DNAH5):c.39C>T (p.Ser13=)
|
rs370788337
|
0.00021
|
NM_001369.3(DNAH5):c.7753-7A>G
|
rs374025017
|
0.00021
|
NM_001369.3(DNAH5):c.8936A>G (p.Gln2979Arg)
|
rs148666497
|
0.00021
|
NM_003114.5(SPAG1):c.1128C>T (p.Ala376=)
|
rs757793042
|
0.00021
|
NM_017802.4(DNAAF5):c.1893C>T (p.Thr631=)
|
rs149101412
|
0.00021
|
NM_023036.6(DNAI2):c.1723-1G>T
|
rs201909971
|
0.00021
|
NM_023036.6(DNAI2):c.571C>T (p.Pro191Ser)
|
rs201457010
|
0.00021
|
NM_178452.6(DNAAF1):c.1068C>T (p.Pro356=)
|
rs370118109
|
0.00021
|
NM_181426.2(CCDC39):c.1035-5T>C
|
rs200089274
|
0.00021
|
NM_000328.3(RPGR):c.2365G>A (p.Asp789Asn)
|
rs113968324
|
0.00020
|
NM_001206927.2(DNAH8):c.10525-13T>G
|
rs375416264
|
0.00020
|
NM_001277115.2(DNAH11):c.13399G>A (p.Val4467Met)
|
rs200609513
|
0.00020
|
NM_001277115.2(DNAH11):c.1866A>C (p.Val622=)
|
rs750617653
|
0.00020
|
NM_001277115.2(DNAH11):c.5621+19C>T
|
rs368278835
|
0.00020
|
NM_012144.4(DNAI1):c.1454C>T (p.Thr485Met)
|
rs137935543
|
0.00020
|
NM_016616.5(NME8):c.454C>T (p.Gln152Ter)
|
rs199901385
|
0.00020
|
NM_017950.4(CCDC40):c.2229G>C (p.Glu743Asp)
|
rs377219039
|
0.00020
|
NM_023036.6(DNAI2):c.989C>T (p.Pro330Leu)
|
rs778774910
|
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_181426.2(CCDC39):c.1555C>A (p.His519Asn)
|
rs374289303
|
0.00020
|
NM_001206927.2(DNAH8):c.5169A>G (p.Val1723=)
|
rs149635351
|
0.00019
|
NM_001277115.2(DNAH11):c.10245G>A (p.Ala3415=)
|
rs199799310
|
0.00019
|
NM_001277115.2(DNAH11):c.982+8T>A
|
rs72655978
|
0.00019
|
NM_001277115.2(DNAH11):c.9966A>G (p.Gln3322=)
|
rs201050208
|
0.00019
|
NM_001369.3(DNAH5):c.12367C>T (p.His4123Tyr)
|
rs151145750
|
0.00019
|
NM_001369.3(DNAH5):c.12375G>A (p.Ala4125=)
|
rs140284455
|
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.7476G>T (p.Ala2492=)
|
rs778257130
|
0.00019
|
NM_001369.3(DNAH5):c.8999G>A (p.Arg3000Gln)
|
rs137949961
|
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.2200G>A (p.Gly734Ser)
|
rs191515363
|
0.00019
|
NM_018139.3(DNAAF2):c.129C>T (p.Leu43=)
|
rs567371975
|
0.00019
|
NM_023036.6(DNAI2):c.1179A>G (p.Glu393=)
|
rs146478497
|
0.00019
|
NM_023036.6(DNAI2):c.1629G>A (p.Ala543=)
|
rs201925425
|
0.00019
|
NM_080860.4(RSPH1):c.94G>A (p.Gly32Arg)
|
rs543602231
|
0.00019
|
NM_178452.6(DNAAF1):c.115T>C (p.Cys39Arg)
|
rs373512514
|
0.00019
|
NM_001277115.2(DNAH11):c.2824C>A (p.Pro942Thr)
|
rs189569144
|
0.00018
|
NM_001277115.2(DNAH11):c.8145C>T (p.Asn2715=)
|
rs201592689
|
0.00018
|
NM_001277115.2(DNAH11):c.8770G>A (p.Val2924Met)
|
rs72657369
|
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_003114.5(SPAG1):c.1923C>T (p.Asp641=)
|
rs143972848
|
0.00018
|
NM_017802.4(DNAAF5):c.787C>T (p.Arg263Trp)
|
rs143045012
|
0.00018
|
NM_018076.5(ODAD2):c.2572G>A (p.Ala858Thr)
|
rs200363248
|
0.00018
|
NM_001206927.2(DNAH8):c.12933T>C (p.Asp4311=)
|
rs143973202
|
0.00017
|
NM_001277115.2(DNAH11):c.13162+12C>T
|
rs191638909
|
0.00017
|
NM_012144.4(DNAI1):c.1523T>C (p.Ile508Thr)
|
rs148238282
|
0.00017
|
NM_012144.4(DNAI1):c.520G>A (p.Glu174Lys)
|
rs141157671
|
0.00017
|
NM_023036.6(DNAI2):c.1356C>T (p.Asp452=)
|
rs748264709
|
0.00017
|
NM_080860.4(RSPH1):c.502-18G>A
|
rs371221411
|
0.00017
|
NM_080860.4(RSPH1):c.684G>A (p.Pro228=)
|
rs138330014
|
0.00017
|
NM_145038.5(DRC1):c.2166+9C>T
|
rs373951532
|
0.00017
|
NM_152732.5(RSPH9):c.819C>T (p.Pro273=)
|
rs79412180
|
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_001034853.2(RPGR):c.2517A>G (p.Glu839=)
|
rs755138994
|
0.00016
|
NM_001034853.2(RPGR):c.394G>A (p.Val132Ile)
|
rs768274240
|
0.00016
|
NM_001277115.2(DNAH11):c.1003G>A (p.Val335Met)
|
rs562105878
|
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.4370C>T (p.Thr1457Ile)
|
rs200220615
|
0.00016
|
NM_001277115.2(DNAH11):c.5397C>A (p.Ile1799=)
|
rs368444771
|
0.00016
|
NM_001277115.2(DNAH11):c.9576T>G (p.Ala3192=)
|
rs766295022
|
0.00016
|
NM_001364171.2(ODAD1):c.315G>A (p.Ala105=)
|
rs369079468
|
0.00016
|
NM_001369.3(DNAH5):c.10789G>T (p.Ala3597Ser)
|
rs368959723
|
0.00016
|
NM_001369.3(DNAH5):c.11215T>C (p.Leu3739=)
|
rs768012285
|
0.00016
|
NM_001369.3(DNAH5):c.574G>A (p.Ala192Thr)
|
rs140700961
|
0.00016
|
NM_017802.4(DNAAF5):c.982C>T (p.Leu328=)
|
rs758280553
|
0.00016
|
NM_017950.4(CCDC40):c.1807-10T>G
|
rs369273325
|
0.00016
|
NM_017950.4(CCDC40):c.1897C>T (p.Arg633Trp)
|
rs200551690
|
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_018139.3(DNAAF2):c.1687G>T (p.Ala563Ser)
|
rs138511448
|
0.00016
|
NM_018139.3(DNAAF2):c.417C>T (p.Tyr139=)
|
rs776421647
|
0.00016
|
NM_023036.6(DNAI2):c.1146G>A (p.Thr382=)
|
rs142571722
|
0.00016
|
NM_080860.4(RSPH1):c.714T>C (p.Ala238=)
|
rs141840867
|
0.00016
|
NM_145038.5(DRC1):c.1926G>A (p.Ser642=)
|
rs144870659
|
0.00016
|
NM_145038.5(DRC1):c.1974C>G (p.Asp658Glu)
|
rs140913454
|
0.00016
|
NM_178452.6(DNAAF1):c.1528+11C>T
|
rs375586650
|
0.00016
|
NM_001034853.2(RPGR):c.1710G>A (p.Thr570=)
|
rs138347728
|
0.00015
|
NM_001206927.2(DNAH8):c.10308+17A>G
|
rs373062765
|
0.00015
|
NM_001256715.2(DNAAF3):c.291C>G (p.Ala97=)
|
rs569627336
|
0.00015
|
NM_001277115.2(DNAH11):c.10128C>A (p.Ile3376=)
|
rs368988134
|
0.00015
|
NM_001277115.2(DNAH11):c.9869C>G (p.Ser3290Cys)
|
rs201494403
|
0.00015
|
NM_001369.3(DNAH5):c.1335C>T (p.Cys445=)
|
rs192739957
|
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_003114.5(SPAG1):c.1119C>T (p.Ala373=)
|
rs1368158185
|
0.00015
|
NM_017802.4(DNAAF5):c.282G>A (p.Ala94=)
|
rs887811765
|
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_152732.5(RSPH9):c.327C>T (p.Tyr109=)
|
rs140285713
|
0.00015
|
NM_178452.6(DNAAF1):c.2065+9G>A
|
rs200690810
|
0.00015
|
NM_001206927.2(DNAH8):c.11490G>A (p.Glu3830=)
|
rs375619692
|
0.00014
|
NM_001206927.2(DNAH8):c.11913A>G (p.Glu3971=)
|
rs149690655
|
0.00014
|
NM_001206927.2(DNAH8):c.12951+7G>A
|
rs565030663
|
0.00014
|
NM_001206927.2(DNAH8):c.9087G>A (p.Ser3029=)
|
rs201691475
|
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_001369.3(DNAH5):c.10194C>T (p.Arg3398=)
|
rs371663826
|
0.00014
|
NM_001369.3(DNAH5):c.12189G>A (p.Gly4063=)
|
rs144879072
|
0.00014
|
NM_001369.3(DNAH5):c.1648G>A (p.Glu550Lys)
|
rs145962029
|
0.00014
|
NM_001369.3(DNAH5):c.4258A>G (p.Asn1420Asp)
|
rs201841311
|
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_001369.3(DNAH5):c.9781A>G (p.Lys3261Glu)
|
rs146215039
|
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.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_018076.5(ODAD2):c.2151G>A (p.Lys717=)
|
rs375534822
|
0.00014
|
NM_018139.3(DNAAF2):c.824C>T (p.Ala275Val)
|
rs200291432
|
0.00014
|
NM_023036.6(DNAI2):c.1202T>C (p.Met401Thr)
|
rs146769635
|
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_145038.5(DRC1):c.1725G>A (p.Ala575=)
|
rs776929224
|
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.863+13A>G
|
rs112775337
|
0.00014
|
NM_181426.2(CCDC39):c.1528-4G>T
|
rs1317352666
|
0.00014
|
NM_001034853.2(RPGR):c.1709C>T (p.Thr570Met)
|
rs202154504
|
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_001256715.2(DNAAF3):c.1353C>T (p.Phe451=)
|
rs201887376
|
0.00013
|
NM_001256715.2(DNAAF3):c.681C>T (p.Pro227=)
|
rs764852012
|
0.00013
|
NM_001277115.2(DNAH11):c.10122A>G (p.Lys3374=)
|
rs764350537
|
0.00013
|
NM_001277115.2(DNAH11):c.3412T>C (p.Phe1138Leu)
|
rs200099996
|
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_001369.3(DNAH5):c.11934G>A (p.Pro3978=)
|
rs370543923
|
0.00013
|
NM_001369.3(DNAH5):c.2047C>T (p.Arg683Trp)
|
rs182512638
|
0.00013
|
NM_001369.3(DNAH5):c.2306C>T (p.Ala769Val)
|
rs200101760
|
0.00013
|
NM_001369.3(DNAH5):c.2571G>A (p.Met857Ile)
|
rs199667661
|
0.00013
|
NM_001369.3(DNAH5):c.2760A>G (p.Gly920=)
|
rs763731693
|
0.00013
|
NM_001369.3(DNAH5):c.5438A>G (p.Glu1813Gly)
|
rs199910966
|
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.369C>T (p.Asn123=)
|
rs373347833
|
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_018076.5(ODAD2):c.26C>T (p.Thr9Met)
|
rs181484327
|
0.00013
|
NM_080860.4(RSPH1):c.649T>C (p.Leu217=)
|
rs142072750
|
0.00013
|
NM_145038.5(DRC1):c.1724C>T (p.Ala575Val)
|
rs149284367
|
0.00013
|
NM_178452.6(DNAAF1):c.1529-18C>G
|
rs199720934
|
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_181426.2(CCDC39):c.1362+13T>C
|
rs369141426
|
0.00013
|
NM_181426.2(CCDC39):c.396G>A (p.Leu132=)
|
rs201923286
|
0.00013
|
NM_001034853.2(RPGR):c.1371G>C (p.Glu457Asp)
|
rs371226433
|
0.00012
|
NM_001034853.2(RPGR):c.1608A>T (p.Thr536=)
|
rs145089607
|
0.00012
|
NM_001034853.2(RPGR):c.1708A>G (p.Thr570Ala)
|
rs768169831
|
0.00012
|
NM_001277115.2(DNAH11):c.12057C>T (p.Phe4019=)
|
rs200441507
|
0.00012
|
NM_001369.3(DNAH5):c.7943C>T (p.Ala2648Val)
|
rs201939338
|
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_023036.6(DNAI2):c.1264G>A (p.Val422Ile)
|
rs201801542
|
0.00012
|
NM_145038.5(DRC1):c.1519A>C (p.Ile507Leu)
|
rs188055173
|
0.00012
|
NM_178452.6(DNAAF1):c.2082C>T (p.Ala694=)
|
rs769877978
|
0.00012
|
NM_001190787.3(MCIDAS):c.474G>A (p.Pro158=)
|
rs1001897568
|
0.00011
|
NM_001206927.2(DNAH8):c.12590C>T (p.Thr4197Met)
|
rs146314121
|
0.00011
|
NM_001206927.2(DNAH8):c.5528A>G (p.Asp1843Gly)
|
rs140442435
|
0.00011
|
NM_001206927.2(DNAH8):c.6255C>T (p.Val2085=)
|
rs199546078
|
0.00011
|
NM_001206927.2(DNAH8):c.7068G>T (p.Thr2356=)
|
rs760793116
|
0.00011
|
NM_001256715.2(DNAAF3):c.891G>A (p.Thr297=)
|
rs565551381
|
0.00011
|
NM_001277115.2(DNAH11):c.10569-15C>T
|
rs371205337
|
0.00011
|
NM_001277115.2(DNAH11):c.10896+18A>G
|
rs371959142
|
0.00011
|
NM_001277115.2(DNAH11):c.2826G>A (p.Pro942=)
|
rs368794820
|
0.00011
|
NM_001277115.2(DNAH11):c.3201T>C (p.His1067=)
|
rs367776408
|
0.00011
|
NM_001277115.2(DNAH11):c.338C>A (p.Ala113Glu)
|
rs772913999
|
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.8382G>A (p.Lys2794=)
|
rs200214408
|
0.00011
|
NM_001277115.2(DNAH11):c.9279C>T (p.Ser3093=)
|
rs200160729
|
0.00011
|
NM_001364171.2(ODAD1):c.2091G>A (p.Pro697=)
|
rs572589870
|
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.13437C>T (p.Cys4479=)
|
rs376510352
|
0.00011
|
NM_001369.3(DNAH5):c.13724-17T>G
|
rs201764984
|
0.00011
|
NM_001369.3(DNAH5):c.2203G>C (p.Ala735Pro)
|
rs150793327
|
0.00011
|
NM_001369.3(DNAH5):c.3397-8G>T
|
rs200694593
|
0.00011
|
NM_001369.3(DNAH5):c.3733C>T (p.Arg1245Cys)
|
rs149609746
|
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.4881G>A (p.Thr1627=)
|
rs751858022
|
0.00011
|
NM_001369.3(DNAH5):c.5265C>T (p.His1755=)
|
rs373540353
|
0.00011
|
NM_001369.3(DNAH5):c.5692G>A (p.Asp1898Asn)
|
rs149834171
|
0.00011
|
NM_001369.3(DNAH5):c.7605C>T (p.Pro2535=)
|
rs375573515
|
0.00011
|
NM_001369.3(DNAH5):c.8921G>A (p.Gly2974Asp)
|
rs373899654
|
0.00011
|
NM_003114.5(SPAG1):c.639G>A (p.Lys213=)
|
rs751691673
|
0.00011
|
NM_017802.4(DNAAF5):c.2490C>T (p.Ala830=)
|
rs774657675
|
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.3021+13G>A
|
rs762011731
|
0.00011
|
NM_017950.4(CCDC40):c.3348C>T (p.Asp1116=)
|
rs377559639
|
0.00011
|
NM_018139.3(DNAAF2):c.1315G>C (p.Asp439His)
|
rs371126037
|
0.00011
|
NM_023036.6(DNAI2):c.1776G>A (p.Ala592=)
|
rs200861036
|
0.00011
|
NM_145038.5(DRC1):c.1124G>A (p.Arg375His)
|
rs141347582
|
0.00011
|
NM_152732.5(RSPH9):c.288G>A (p.Ser96=)
|
rs368692729
|
0.00011
|
NM_178452.6(DNAAF1):c.2065+5G>A
|
rs774606576
|
0.00011
|
NM_178452.6(DNAAF1):c.2079C>T (p.Ser693=)
|
rs145469545
|
0.00011
|
NM_178452.6(DNAAF1):c.2166G>A (p.Pro722=)
|
rs764624773
|
0.00011
|
NM_178452.6(DNAAF1):c.507G>C (p.Leu169=)
|
rs370128838
|
0.00011
|
NM_181426.2(CCDC39):c.1034+11A>G
|
rs780737889
|
0.00011
|
NM_181426.2(CCDC39):c.2558G>A (p.Arg853His)
|
rs147183244
|
0.00011
|
NM_181426.2(CCDC39):c.255T>C (p.His85=)
|
rs769151570
|
0.00011
|
NM_181426.2(CCDC39):c.357+8T>C
|
rs374226135
|
0.00011
|
NM_181426.2(CCDC39):c.885G>A (p.Thr295=)
|
rs775454434
|
0.00011
|
NM_213607.3(CCDC103):c.182G>A (p.Arg61Gln)
|
rs150876063
|
0.00011
|
NM_001010892.3(RSPH4A):c.1920G>A (p.Lys640=)
|
rs560185647
|
0.00010
|
NM_001034853.2(RPGR):c.1163C>T (p.Ala388Val)
|
rs199661899
|
0.00010
|
NM_001034853.2(RPGR):c.36T>G (p.Gly12=)
|
rs769123303
|
0.00010
|
NM_001206927.2(DNAH8):c.10548C>A (p.Gly3516=)
|
rs200840791
|
0.00010
|
NM_001206927.2(DNAH8):c.4845+9G>A
|
rs373670534
|
0.00010
|
NM_001206927.2(DNAH8):c.6847C>T (p.Leu2283=)
|
rs200508313
|
0.00010
|
NM_001206927.2(DNAH8):c.7346G>T (p.Arg2449Leu)
|
rs149449115
|
0.00010
|
NM_001256715.2(DNAAF3):c.480+14G>A
|
rs751887577
|
0.00010
|
NM_001277115.2(DNAH11):c.11042T>C (p.Val3681Ala)
|
rs372733227
|
0.00010
|
NM_001277115.2(DNAH11):c.13482C>T (p.Phe4494=)
|
rs370038827
|
0.00010
|
NM_001277115.2(DNAH11):c.2500G>A (p.Val834Met)
|
rs368578923
|
0.00010
|
NM_001277115.2(DNAH11):c.7311G>A (p.Glu2437=)
|
rs762639291
|
0.00010
|
NM_001364171.2(ODAD1):c.1175C>T (p.Ser392Leu)
|
rs201978870
|
0.00010
|
NM_001364171.2(ODAD1):c.1702G>A (p.Val568Ile)
|
rs190964996
|
0.00010
|
NM_001364171.2(ODAD1):c.325G>A (p.Glu109Lys)
|
rs368408933
|
0.00010
|
NM_001364171.2(ODAD1):c.697C>T (p.Arg233Trp)
|
rs200168343
|
0.00010
|
NM_001369.3(DNAH5):c.11322C>T (p.Ser3774=)
|
rs267600357
|
0.00010
|
NM_001369.3(DNAH5):c.11700C>G (p.Thr3900=)
|
rs777190482
|
0.00010
|
NM_001369.3(DNAH5):c.12272T>C (p.Met4091Thr)
|
rs142570731
|
0.00010
|
NM_001369.3(DNAH5):c.12546G>A (p.Lys4182=)
|
rs146330391
|
0.00010
|
NM_001369.3(DNAH5):c.13410G>A (p.Ser4470=)
|
rs368920785
|
0.00010
|
NM_001369.3(DNAH5):c.1434A>G (p.Arg478=)
|
rs140693210
|
0.00010
|
NM_001369.3(DNAH5):c.20G>A (p.Arg7Lys)
|
rs139728564
|
0.00010
|
NM_001369.3(DNAH5):c.2400G>A (p.Glu800=)
|
rs199951976
|
0.00010
|
NM_001369.3(DNAH5):c.4689C>T (p.Gly1563=)
|
rs375658702
|
0.00010
|
NM_001369.3(DNAH5):c.7881G>A (p.Met2627Ile)
|
rs369279743
|
0.00010
|
NM_001369.3(DNAH5):c.7899G>A (p.Glu2633=)
|
rs368050409
|
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_017802.4(DNAAF5):c.1249G>A (p.Val417Ile)
|
rs145938269
|
0.00010
|
NM_017802.4(DNAAF5):c.1746G>A (p.Pro582=)
|
rs368936903
|
0.00010
|
NM_017802.4(DNAAF5):c.822G>C (p.Leu274=)
|
rs142939429
|
0.00010
|
NM_017950.4(CCDC40):c.2293G>A (p.Glu765Lys)
|
rs199850214
|
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_178452.6(DNAAF1):c.1173G>A (p.Pro391=)
|
rs370819090
|
0.00010
|
NM_181426.2(CCDC39):c.1896A>G (p.Leu632=)
|
rs79353057
|
0.00010
|
NM_181426.2(CCDC39):c.609+15G>T
|
rs186993887
|
0.00010
|
NM_001010892.3(RSPH4A):c.237A>G (p.Thr79=)
|
rs145831200
|
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.12720C>T (p.Arg4240=)
|
rs148559694
|
0.00009
|
NM_001206927.2(DNAH8):c.1294-13C>T
|
rs980042927
|
0.00009
|
NM_001206927.2(DNAH8):c.13683G>A (p.Val4561=)
|
rs201274048
|
0.00009
|
NM_001206927.2(DNAH8):c.2946G>A (p.Lys982=)
|
rs146331687
|
0.00009
|
NM_001206927.2(DNAH8):c.3480C>T (p.Asp1160=)
|
rs139961123
|
0.00009
|
NM_001206927.2(DNAH8):c.762+18C>T
|
rs150392690
|
0.00009
|
NM_001206927.2(DNAH8):c.8505T>C (p.Cys2835=)
|
rs145125117
|
0.00009
|
NM_001277115.2(DNAH11):c.10380G>A (p.Thr3460=)
|
rs535847014
|
0.00009
|
NM_001277115.2(DNAH11):c.11457C>T (p.Pro3819=)
|
rs201185369
|
0.00009
|
NM_001277115.2(DNAH11):c.12534A>G (p.Pro4178=)
|
rs752183095
|
0.00009
|
NM_001277115.2(DNAH11):c.1513C>T (p.His505Tyr)
|
rs771891040
|
0.00009
|
NM_001277115.2(DNAH11):c.1655G>T (p.Gly552Val)
|
rs187510989
|
0.00009
|
NM_001277115.2(DNAH11):c.4377+10T>G
|
rs144229693
|
0.00009
|
NM_001277115.2(DNAH11):c.4987C>T (p.Leu1663=)
|
rs541180386
|
0.00009
|
NM_001277115.2(DNAH11):c.7603C>T (p.Arg2535Cys)
|
rs374335908
|
0.00009
|
NM_001277115.2(DNAH11):c.8798-4G>A
|
rs374160369
|
0.00009
|
NM_001364171.2(ODAD1):c.1423G>A (p.Asp475Asn)
|
rs199600077
|
0.00009
|
NM_001364171.2(ODAD1):c.1689C>T (p.Ala563=)
|
rs139270932
|
0.00009
|
NM_001369.3(DNAH5):c.10658G>A (p.Arg3553Gln)
|
rs144393366
|
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.13038T>A (p.Gly4346=)
|
rs768406077
|
0.00009
|
NM_001369.3(DNAH5):c.13591G>A (p.Glu4531Lys)
|
rs201242847
|
0.00009
|
NM_001369.3(DNAH5):c.1362A>G (p.Lys454=)
|
rs371157628
|
0.00009
|
NM_001369.3(DNAH5):c.1959G>A (p.Thr653=)
|
rs141736046
|
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.633G>A (p.Ser211=)
|
rs151075351
|
0.00009
|
NM_001369.3(DNAH5):c.6970A>G (p.Thr2324Ala)
|
rs143074036
|
0.00009
|
NM_001369.3(DNAH5):c.9816C>T (p.Ser3272=)
|
rs749710045
|
0.00009
|
NM_003114.5(SPAG1):c.132C>T (p.Cys44=)
|
rs376986262
|
0.00009
|
NM_003114.5(SPAG1):c.2769G>A (p.Gln923=)
|
rs768865173
|
0.00009
|
NM_012144.4(DNAI1):c.1019+7A>G
|
rs200720794
|
0.00009
|
NM_012144.4(DNAI1):c.262-10C>G
|
rs371157271
|
0.00009
|
NM_012144.4(DNAI1):c.638C>T (p.Thr213Met)
|
rs201754555
|
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_016616.5(NME8):c.440C>T (p.Pro147Leu)
|
rs143559107
|
0.00009
|
NM_017802.4(DNAAF5):c.447G>C (p.Leu149=)
|
rs969984227
|
0.00009
|
NM_017802.4(DNAAF5):c.595+18C>T
|
rs886038637
|
0.00009
|
NM_017950.4(CCDC40):c.1468G>A (p.Val490Met)
|
rs200902099
|
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.2911G>A (p.Val971Ile)
|
rs746632559
|
0.00009
|
NM_018076.5(ODAD2):c.1218C>T (p.His406=)
|
rs774971206
|
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_178452.6(DNAAF1):c.1317G>A (p.Glu439=)
|
rs768024430
|
0.00009
|
NM_178452.6(DNAAF1):c.1735T>C (p.Leu579=)
|
rs764511452
|
0.00009
|
NM_181426.2(CCDC39):c.1728C>T (p.His576=)
|
rs376737530
|
0.00009
|
NM_181426.2(CCDC39):c.1887C>T (p.Arg629=)
|
rs759900725
|
0.00009
|
NM_001010892.3(RSPH4A):c.651C>T (p.Tyr217=)
|
rs140811116
|
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.2286G>A (p.Pro762=)
|
rs141715565
|
0.00008
|
NM_001206927.2(DNAH8):c.4866T>A (p.Ile1622=)
|
rs371132948
|
0.00008
|
NM_001206927.2(DNAH8):c.7858+20C>A
|
rs183425377
|
0.00008
|
NM_001206927.2(DNAH8):c.8584-18A>G
|
rs755504939
|
0.00008
|
NM_001206927.2(DNAH8):c.9972A>C (p.Ala3324=)
|
rs755263773
|
0.00008
|
NM_001277115.2(DNAH11):c.10867A>G (p.Ile3623Val)
|
rs370443558
|
0.00008
|
NM_001277115.2(DNAH11):c.11081A>T (p.Asn3694Ile)
|
rs528354205
|
0.00008
|
NM_001277115.2(DNAH11):c.12344T>G (p.Ile4115Ser)
|
rs371418299
|
0.00008
|
NM_001277115.2(DNAH11):c.12948A>G (p.Leu4316=)
|
rs746607145
|
0.00008
|
NM_001277115.2(DNAH11):c.2668-5T>C
|
rs72655999
|
0.00008
|
NM_001277115.2(DNAH11):c.3356G>A (p.Ser1119Asn)
|
rs754921505
|
0.00008
|
NM_001277115.2(DNAH11):c.3649-14C>G
|
rs750945230
|
0.00008
|
NM_001277115.2(DNAH11):c.3843G>A (p.Ala1281=)
|
rs374551688
|
0.00008
|
NM_001277115.2(DNAH11):c.4012-8G>A
|
rs374349753
|
0.00008
|
NM_001369.3(DNAH5):c.10420-5G>T
|
rs754497052
|
0.00008
|
NM_001369.3(DNAH5):c.12105G>A (p.Thr4035=)
|
rs199735129
|
0.00008
|
NM_001369.3(DNAH5):c.2170A>G (p.Met724Val)
|
rs202195680
|
0.00008
|
NM_001369.3(DNAH5):c.2471T>C (p.Ile824Thr)
|
rs147108941
|
0.00008
|
NM_001369.3(DNAH5):c.3202G>C (p.Ala1068Pro)
|
rs200249508
|
0.00008
|
NM_001369.3(DNAH5):c.3428G>A (p.Arg1143His)
|
rs150739124
|
0.00008
|
NM_001369.3(DNAH5):c.4133T>C (p.Ile1378Thr)
|
rs536502106
|
0.00008
|
NM_001369.3(DNAH5):c.5848A>G (p.Thr1950Ala)
|
rs368863709
|
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.946C>T (p.Leu316Phe)
|
rs201706790
|
0.00008
|
NM_001369.3(DNAH5):c.9619T>C (p.Leu3207=)
|
rs753402995
|
0.00008
|
NM_012144.4(DNAI1):c.1570-6G>A
|
rs370622070
|
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.1116G>A (p.Ala372=)
|
rs143000634
|
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_017950.4(CCDC40):c.1068G>A (p.Ser356=)
|
rs377156300
|
0.00008
|
NM_017950.4(CCDC40):c.1806+15G>A
|
rs767093580
|
0.00008
|
NM_017950.4(CCDC40):c.2325G>A (p.Val775=)
|
rs1483877024
|
0.00008
|
NM_018139.3(DNAAF2):c.1969C>T (p.Leu657Phe)
|
rs187863107
|
0.00008
|
NM_021147.5(CCNO):c.206A>G (p.Asp69Gly)
|
rs372247606
|
0.00008
|
NM_023036.6(DNAI2):c.855G>A (p.Thr285=)
|
rs144909415
|
0.00008
|
NM_181426.2(CCDC39):c.2736G>A (p.Pro912=)
|
rs183889161
|
0.00008
|
NM_001010892.3(RSPH4A):c.1563T>C (p.Asn521=)
|
rs143732959
|
0.00007
|
NM_001010892.3(RSPH4A):c.922-16G>A
|
rs750183884
|
0.00007
|
NM_001190787.3(MCIDAS):c.577T>C (p.Leu193=)
|
rs12514445
|
0.00007
|
NM_001206927.2(DNAH8):c.12721G>A (p.Ala4241Thr)
|
rs369473998
|
0.00007
|
NM_001206927.2(DNAH8):c.13941C>A (p.Pro4647=)
|
rs151211156
|
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.8880A>T (p.Pro2960=)
|
rs774972147
|
0.00007
|
NM_001256715.2(DNAAF3):c.1256G>A (p.Arg419Gln)
|
rs373489149
|
0.00007
|
NM_001277115.2(DNAH11):c.10440C>T (p.Thr3480=)
|
rs369013054
|
0.00007
|
NM_001277115.2(DNAH11):c.10986A>G (p.Gly3662=)
|
rs200604870
|
0.00007
|
NM_001277115.2(DNAH11):c.1170G>A (p.Glu390=)
|
rs776924184
|
0.00007
|
NM_001277115.2(DNAH11):c.12428T>C (p.Met4143Thr)
|
rs751994566
|
0.00007
|
NM_001277115.2(DNAH11):c.13175C>T (p.Thr4392Met)
|
rs181603431
|
0.00007
|
NM_001277115.2(DNAH11):c.1848G>A (p.Gln616=)
|
rs369146775
|
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.3852+16A>G
|
rs72657306
|
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.8316+4A>C
|
rs779800733
|
0.00007
|
NM_001277115.2(DNAH11):c.8316+7G>A
|
rs369837420
|
0.00007
|
NM_001277115.2(DNAH11):c.9103-15T>C
|
rs551974653
|
0.00007
|
NM_001364171.2(ODAD1):c.1191T>C (p.Leu397=)
|
rs758310719
|
0.00007
|
NM_001364171.2(ODAD1):c.2037C>T (p.Leu679=)
|
rs779297766
|
0.00007
|
NM_001364171.2(ODAD1):c.666-9C>T
|
rs754039474
|
0.00007
|
NM_001369.3(DNAH5):c.10646A>G (p.Glu3549Gly)
|
rs758546967
|
0.00007
|
NM_001369.3(DNAH5):c.11289C>T (p.Asn3763=)
|
rs370292064
|
0.00007
|
NM_001369.3(DNAH5):c.13746C>T (p.Tyr4582=)
|
rs369094478
|
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.5676T>A (p.Ile1892=)
|
rs144828347
|
0.00007
|
NM_001369.3(DNAH5):c.8482C>T (p.Arg2828Cys)
|
rs145209155
|
0.00007
|
NM_012144.4(DNAI1):c.672A>G (p.Thr224=)
|
rs201101182
|
0.00007
|
NM_017802.4(DNAAF5):c.735C>T (p.Asp245=)
|
rs766158599
|
0.00007
|
NM_017950.4(CCDC40):c.1164G>A (p.Ala388=)
|
rs367861877
|
0.00007
|
NM_017950.4(CCDC40):c.1441-8G>T
|
rs762319130
|
0.00007
|
NM_017950.4(CCDC40):c.660C>T (p.Phe220=)
|
rs200678214
|
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.384C>A (p.Gly128=)
|
rs200484042
|
0.00007
|
NM_023036.6(DNAI2):c.1251C>T (p.Pro417=)
|
rs139319121
|
0.00007
|
NM_023036.6(DNAI2):c.134A>G (p.Asn45Ser)
|
rs148073122
|
0.00007
|
NM_023036.6(DNAI2):c.610+12C>T
|
rs374447879
|
0.00007
|
NM_145038.5(DRC1):c.1425G>A (p.Ala475=)
|
rs150563278
|
0.00007
|
NM_145038.5(DRC1):c.155+11G>A
|
rs773150423
|
0.00007
|
NM_152732.5(RSPH9):c.227+9G>T
|
rs759429967
|
0.00007
|
NM_178452.6(DNAAF1):c.1473G>A (p.Glu491=)
|
rs142870415
|
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.9C>T (p.Ser3=)
|
rs540762763
|
0.00007
|
NM_000328.3(RPGR):c.2242-6T>C
|
rs771389612
|
0.00006
|
NM_001010892.3(RSPH4A):c.99A>G (p.Gln33=)
|
rs139855630
|
0.00006
|
NM_001034853.2(RPGR):c.1630A>G (p.Ser544Gly)
|
rs878853953
|
0.00006
|
NM_001206927.2(DNAH8):c.11712C>T (p.Arg3904=)
|
rs202182124
|
0.00006
|
NM_001206927.2(DNAH8):c.13083G>A (p.Pro4361=)
|
rs143472136
|
0.00006
|
NM_001206927.2(DNAH8):c.13371+10G>T
|
rs766324900
|
0.00006
|
NM_001206927.2(DNAH8):c.14089C>T (p.Leu4697=)
|
rs560936004
|
0.00006
|
NM_001206927.2(DNAH8):c.47C>T (p.Ala16Val)
|
rs754105184
|
0.00006
|
NM_001206927.2(DNAH8):c.558T>C (p.Asp186=)
|
rs753974910
|
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.7728A>G (p.Gly2576=)
|
rs140943630
|
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.378G>A (p.Val126=)
|
rs759904558
|
0.00006
|
NM_001256715.2(DNAAF3):c.471C>T (p.Arg157=)
|
rs561398611
|
0.00006
|
NM_001277115.2(DNAH11):c.10125C>G (p.Thr3375=)
|
rs192345130
|
0.00006
|
NM_001277115.2(DNAH11):c.10176C>T (p.Arg3392=)
|
rs370857029
|
0.00006
|
NM_001277115.2(DNAH11):c.11016G>A (p.Glu3672=)
|
rs768633390
|
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.13494C>T (p.Ser4498=)
|
rs368269718
|
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.2328G>A (p.Thr776=)
|
rs372387032
|
0.00006
|
NM_001277115.2(DNAH11):c.3541A>G (p.Ser1181Gly)
|
rs148916596
|
0.00006
|
NM_001277115.2(DNAH11):c.3609T>C (p.Tyr1203=)
|
rs371466312
|
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.4377+11C>T
|
rs568498841
|
0.00006
|
NM_001277115.2(DNAH11):c.4951T>C (p.Cys1651Arg)
|
rs374946621
|
0.00006
|
NM_001277115.2(DNAH11):c.5622-7C>A
|
rs727503901
|
0.00006
|
NM_001277115.2(DNAH11):c.6018G>A (p.Pro2006=)
|
rs368842512
|
0.00006
|
NM_001277115.2(DNAH11):c.6922C>G (p.Pro2308Ala)
|
rs373358447
|
0.00006
|
NM_001277115.2(DNAH11):c.9280G>A (p.Glu3094Lys)
|
rs368259931
|
0.00006
|
NM_001277115.2(DNAH11):c.9487A>G (p.Thr3163Ala)
|
rs373850047
|
0.00006
|
NM_001277115.2(DNAH11):c.9663C>T (p.Ala3221=)
|
rs566367592
|
0.00006
|
NM_001277115.2(DNAH11):c.971C>T (p.Ala324Val)
|
rs79874320
|
0.00006
|
NM_001369.3(DNAH5):c.10330C>T (p.Leu3444=)
|
rs201881960
|
0.00006
|
NM_001369.3(DNAH5):c.10347C>T (p.Ala3449=)
|
rs150773884
|
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.10657C>T (p.Arg3553Trp)
|
rs754263109
|
0.00006
|
NM_001369.3(DNAH5):c.10785G>A (p.Thr3595=)
|
rs144055129
|
0.00006
|
NM_001369.3(DNAH5):c.11529G>T (p.Ser3843=)
|
rs1024441903
|
0.00006
|
NM_001369.3(DNAH5):c.11933C>T (p.Pro3978Leu)
|
rs753473802
|
0.00006
|
NM_001369.3(DNAH5):c.12165C>A (p.Pro4055=)
|
rs138781046
|
0.00006
|
NM_001369.3(DNAH5):c.12492A>C (p.Thr4164=)
|
rs141935657
|
0.00006
|
NM_001369.3(DNAH5):c.1290A>G (p.Glu430=)
|
rs990691780
|
0.00006
|
NM_001369.3(DNAH5):c.13155A>T (p.Pro4385=)
|
rs202103048
|
0.00006
|
NM_001369.3(DNAH5):c.13689G>C (p.Leu4563Phe)
|
rs374221053
|
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.192+10G>A
|
rs778696977
|
0.00006
|
NM_001369.3(DNAH5):c.1958C>T (p.Thr653Met)
|
rs201020293
|
0.00006
|
NM_001369.3(DNAH5):c.2235C>T (p.Tyr745=)
|
rs139916610
|
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.3656G>A (p.Arg1219His)
|
rs73055857
|
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.4262G>A (p.Ser1421Asn)
|
rs774855042
|
0.00006
|
NM_001369.3(DNAH5):c.4614G>A (p.Ala1538=)
|
rs78667898
|
0.00006
|
NM_001369.3(DNAH5):c.537G>A (p.Thr179=)
|
rs370805321
|
0.00006
|
NM_001369.3(DNAH5):c.5485-11A>G
|
rs372860402
|
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.6346A>C (p.Arg2116=)
|
rs747370414
|
0.00006
|
NM_001369.3(DNAH5):c.660+9G>A
|
rs762915801
|
0.00006
|
NM_001369.3(DNAH5):c.6613A>T (p.Ile2205Phe)
|
rs377490104
|
0.00006
|
NM_001369.3(DNAH5):c.6747C>T (p.Phe2249=)
|
rs568499996
|
0.00006
|
NM_001369.3(DNAH5):c.6779C>T (p.Thr2260Ile)
|
rs370292438
|
0.00006
|
NM_001369.3(DNAH5):c.7091G>C (p.Gly2364Ala)
|
rs373657849
|
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.7752+3A>G
|
rs200385399
|
0.00006
|
NM_001369.3(DNAH5):c.8398G>A (p.Val2800Ile)
|
rs770453841
|
0.00006
|
NM_001369.3(DNAH5):c.8748C>T (p.Leu2916=)
|
rs556119081
|
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.432C>T (p.Leu144=)
|
rs758652167
|
0.00006
|
NM_012144.4(DNAI1):c.816+8G>A
|
rs367872627
|
0.00006
|
NM_015896.4(ZMYND10):c.1080G>A (p.Val360=)
|
rs766017967
|
0.00006
|
NM_016616.5(NME8):c.967C>A (p.Arg323=)
|
rs374455803
|
0.00006
|
NM_017802.4(DNAAF5):c.1258-7C>A
|
rs1181940614
|
0.00006
|
NM_017802.4(DNAAF5):c.1976C>T (p.Ala659Val)
|
rs137924231
|
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.781-5C>T
|
rs756800404
|
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.2449+19G>A
|
rs537011469
|
0.00006
|
NM_017950.4(CCDC40):c.2616G>A (p.Leu872=)
|
rs372369514
|
0.00006
|
NM_017950.4(CCDC40):c.3288G>A (p.Glu1096=)
|
rs373348755
|
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.636C>T (p.Ile212=)
|
rs754379326
|
0.00006
|
NM_018139.3(DNAAF2):c.1053G>C (p.Pro351=)
|
rs780614468
|
0.00006
|
NM_018139.3(DNAAF2):c.1674A>G (p.Lys558=)
|
rs368097316
|
0.00006
|
NM_018139.3(DNAAF2):c.1781C>T (p.Ala594Val)
|
rs181040532
|
0.00006
|
NM_018139.3(DNAAF2):c.270G>C (p.Val90=)
|
rs767758073
|
0.00006
|
NM_021147.5(CCNO):c.887G>A (p.Arg296Gln)
|
rs761492748
|
0.00006
|
NM_023036.6(DNAI2):c.1495-4C>A
|
rs765760420
|
0.00006
|
NM_023036.6(DNAI2):c.396G>A (p.Glu132=)
|
rs777369529
|
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.447G>A (p.Thr149=)
|
rs200870072
|
0.00006
|
NM_080860.4(RSPH1):c.483C>A (p.Gly161=)
|
rs371312378
|
0.00006
|
NM_080860.4(RSPH1):c.55-8T>C
|
rs368421971
|
0.00006
|
NM_145038.5(DRC1):c.1509+17G>A
|
rs377178663
|
0.00006
|
NM_145038.5(DRC1):c.330C>T (p.Val110=)
|
rs146060843
|
0.00006
|
NM_145038.5(DRC1):c.655C>T (p.Arg219Cys)
|
rs577516330
|
0.00006
|
NM_145038.5(DRC1):c.679-4G>A
|
rs762632039
|
0.00006
|
NM_178452.6(DNAAF1):c.141G>C (p.Lys47Asn)
|
rs186287554
|
0.00006
|
NM_178452.6(DNAAF1):c.768G>A (p.Pro256=)
|
rs142601761
|
0.00006
|
NM_000328.3(RPGR):c.2152T>C (p.Tyr718His)
|
rs762173989
|
0.00005
|
NM_001034853.2(RPGR):c.1131C>T (p.Phe377=)
|
rs17852968
|
0.00005
|
NM_001034853.2(RPGR):c.1687G>A (p.Val563Met)
|
rs148334278
|
0.00005
|
NM_001190787.3(MCIDAS):c.1047C>T (p.Ser349=)
|
rs540346120
|
0.00005
|
NM_001206927.2(DNAH8):c.11862C>T (p.Ile3954=)
|
rs147504887
|
0.00005
|
NM_001206927.2(DNAH8):c.1461C>T (p.His487=)
|
rs543346545
|
0.00005
|
NM_001206927.2(DNAH8):c.2652A>C (p.Pro884=)
|
rs750208062
|
0.00005
|
NM_001206927.2(DNAH8):c.7237+16C>T
|
rs748581206
|
0.00005
|
NM_001206927.2(DNAH8):c.7584C>T (p.Pro2528=)
|
rs748939836
|
0.00005
|
NM_001206927.2(DNAH8):c.9963+15A>T
|
rs376789490
|
0.00005
|
NM_001256714.1(DNAAF3):c.24G>C (p.Ser8=)
|
rs574117710
|
0.00005
|
NM_001256715.2(DNAAF3):c.1422G>A (p.Pro474=)
|
rs755385476
|
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_001277115.2(DNAH11):c.126G>A (p.Glu42=)
|
rs748250611
|
0.00005
|
NM_001277115.2(DNAH11):c.2043A>G (p.Gln681=)
|
rs375927648
|
0.00005
|
NM_001277115.2(DNAH11):c.3600G>A (p.Leu1200=)
|
rs368872150
|
0.00005
|
NM_001277115.2(DNAH11):c.4964A>G (p.Lys1655Arg)
|
rs371049362
|
0.00005
|
NM_001277115.2(DNAH11):c.6607T>C (p.Leu2203=)
|
rs202012891
|
0.00005
|
NM_001277115.2(DNAH11):c.699G>A (p.Pro233=)
|
rs373971291
|
0.00005
|
NM_001277115.2(DNAH11):c.7800T>C (p.Asp2600=)
|
rs774129338
|
0.00005
|
NM_001277115.2(DNAH11):c.9017C>T (p.Thr3006Met)
|
rs537395849
|
0.00005
|
NM_001277115.2(DNAH11):c.9039G>A (p.Ala3013=)
|
rs373342289
|
0.00005
|
NM_001277115.2(DNAH11):c.9346C>T (p.Leu3116=)
|
rs201171938
|
0.00005
|
NM_001277115.2(DNAH11):c.9993T>G (p.Thr3331=)
|
rs747513916
|
0.00005
|
NM_001364171.2(ODAD1):c.1842G>A (p.Thr614=)
|
rs368560284
|
0.00005
|
NM_001364171.2(ODAD1):c.377C>T (p.Thr126Met)
|
rs137875815
|
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.11571-4C>T
|
rs758068700
|
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.12473G>A (p.Arg4158Gln)
|
rs376927687
|
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.192+19C>T
|
rs374317093
|
0.00005
|
NM_001369.3(DNAH5):c.192+9C>T
|
rs200327229
|
0.00005
|
NM_001369.3(DNAH5):c.2079G>A (p.Glu693=)
|
rs565939224
|
0.00005
|
NM_001369.3(DNAH5):c.207T>A (p.Asp69Glu)
|
rs777266031
|
0.00005
|
NM_001369.3(DNAH5):c.2307C>T (p.Ala769=)
|
rs773547505
|
0.00005
|
NM_001369.3(DNAH5):c.2563C>T (p.Leu855Phe)
|
rs373146819
|
0.00005
|
NM_001369.3(DNAH5):c.3302T>C (p.Val1101Ala)
|
rs376453450
|
0.00005
|
NM_001369.3(DNAH5):c.3517A>C (p.Ile1173Leu)
|
rs375686889
|
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.4338C>G (p.Leu1446=)
|
rs377432140
|
0.00005
|
NM_001369.3(DNAH5):c.6053T>C (p.Ile2018Thr)
|
rs117989731
|
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.727C>G (p.Leu243Val)
|
rs761877376
|
0.00005
|
NM_001369.3(DNAH5):c.7374C>T (p.Ser2458=)
|
rs1342031986
|
0.00005
|
NM_001369.3(DNAH5):c.7888-6T>C
|
rs763546052
|
0.00005
|
NM_001369.3(DNAH5):c.8018A>G (p.Asn2673Ser)
|
rs200591493
|
0.00005
|
NM_001369.3(DNAH5):c.9171A>G (p.Lys3057=)
|
rs543154987
|
0.00005
|
NM_012144.4(DNAI1):c.1215C>T (p.Asp405=)
|
rs376177487
|
0.00005
|
NM_012144.4(DNAI1):c.1999A>G (p.Lys667Glu)
|
rs560719255
|
0.00005
|
NM_012144.4(DNAI1):c.2064G>A (p.Leu688=)
|
rs750785483
|
0.00005
|
NM_012144.4(DNAI1):c.522A>G (p.Glu174=)
|
rs534713601
|
0.00005
|
NM_012144.4(DNAI1):c.660C>T (p.Asn220=)
|
rs146015192
|
0.00005
|
NM_012144.4(DNAI1):c.918C>T (p.Asp306=)
|
rs772207177
|
0.00005
|
NM_016616.5(NME8):c.1467T>C (p.Thr489=)
|
rs141799366
|
0.00005
|
NM_017802.4(DNAAF5):c.1487G>A (p.Arg496His)
|
rs149610399
|
0.00005
|
NM_017802.4(DNAAF5):c.1950C>G (p.Leu650=)
|
rs755182384
|
0.00005
|
NM_017802.4(DNAAF5):c.2239+8A>G
|
rs202087864
|
0.00005
|
NM_017802.4(DNAAF5):c.2526G>A (p.Glu842=)
|
rs772910548
|
0.00005
|
NM_017802.4(DNAAF5):c.732C>T (p.Asp244=)
|
rs751760178
|
0.00005
|
NM_017950.4(CCDC40):c.1159+9A>G
|
rs754557686
|
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.1989+19G>A
|
rs768348648
|
0.00005
|
NM_017950.4(CCDC40):c.2841C>T (p.Leu947=)
|
rs573028412
|
0.00005
|
NM_023036.6(DNAI2):c.865-11C>T
|
rs774483437
|
0.00005
|
NM_080860.4(RSPH1):c.651G>A (p.Leu217=)
|
rs747395137
|
0.00005
|
NM_145038.5(DRC1):c.15G>A (p.Gly5=)
|
rs746939507
|
0.00005
|
NM_145038.5(DRC1):c.2167-5T>C
|
rs560788801
|
0.00005
|
NM_145038.5(DRC1):c.57C>T (p.Ser19=)
|
rs141160156
|
0.00005
|
NM_178452.6(DNAAF1):c.1423C>T (p.Leu475=)
|
rs368651695
|
0.00005
|
NM_178452.6(DNAAF1):c.1528+12G>A
|
rs765784723
|
0.00005
|
NM_178452.6(DNAAF1):c.1592C>T (p.Thr531Met)
|
rs193291760
|
0.00005
|
NM_178452.6(DNAAF1):c.1956C>T (p.Asp652=)
|
rs764010439
|
0.00005
|
NM_178452.6(DNAAF1):c.336G>A (p.Leu112=)
|
rs779266990
|
0.00005
|
NM_181426.2(CCDC39):c.1149G>A (p.Glu383=)
|
rs777802977
|
0.00005
|
NM_181426.2(CCDC39):c.474C>T (p.Leu158=)
|
rs777326219
|
0.00005
|
NM_000328.3(RPGR):c.2301G>A (p.Glu767=)
|
rs749909061
|
0.00004
|
NM_000328.3(RPGR):c.2445A>G (p.Leu815=)
|
rs771798016
|
0.00004
|
NM_001034853.2(RPGR):c.1170T>G (p.Phe390Leu)
|
rs765979499
|
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.84G>T (p.Arg28=)
|
rs898579382
|
0.00004
|
NM_001206927.2(DNAH8):c.10980A>G (p.Leu3660=)
|
rs541761822
|
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.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.2454C>T (p.Phe818=)
|
rs761076754
|
0.00004
|
NM_001206927.2(DNAH8):c.375A>G (p.Thr125=)
|
rs780859367
|
0.00004
|
NM_001206927.2(DNAH8):c.3858A>G (p.Lys1286=)
|
rs1038774938
|
0.00004
|
NM_001206927.2(DNAH8):c.423A>G (p.Arg141=)
|
rs766979092
|
0.00004
|
NM_001206927.2(DNAH8):c.4374C>T (p.Phe1458=)
|
rs201114881
|
0.00004
|
NM_001206927.2(DNAH8):c.5046-15G>A
|
rs764312738
|
0.00004
|
NM_001206927.2(DNAH8):c.5469G>T (p.Pro1823=)
|
rs61757626
|
0.00004
|
NM_001206927.2(DNAH8):c.5734-13G>T
|
rs779630203
|
0.00004
|
NM_001206927.2(DNAH8):c.6492A>G (p.Leu2164=)
|
rs150999554
|
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.9123C>T (p.Ser3041=)
|
rs761783722
|
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.1089G>A (p.Pro363=)
|
rs368469150
|
0.00004
|
NM_001256715.2(DNAAF3):c.1238+9G>T
|
rs375688483
|
0.00004
|
NM_001256715.2(DNAAF3):c.354G>A (p.Gly118=)
|
rs192924578
|
0.00004
|
NM_001256715.2(DNAAF3):c.790-9C>T
|
rs374186955
|
0.00004
|
NM_001256715.2(DNAAF3):c.921G>A (p.Gly307=)
|
rs775495587
|
0.00004
|
NM_001277115.2(DNAH11):c.10332+8C>G
|
rs761592208
|
0.00004
|
NM_001277115.2(DNAH11):c.10398C>T (p.Ala3466=)
|
rs748648201
|
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.11266C>T (p.Arg3756Cys)
|
rs766141716
|
0.00004
|
NM_001277115.2(DNAH11):c.11267G>A (p.Arg3756His)
|
rs554657293
|
0.00004
|
NM_001277115.2(DNAH11):c.11670C>T (p.Asp3890=)
|
rs548184198
|
0.00004
|
NM_001277115.2(DNAH11):c.1700C>G (p.Ala567Gly)
|
rs545970834
|
0.00004
|
NM_001277115.2(DNAH11):c.2156A>G (p.Asn719Ser)
|
rs551038953
|
0.00004
|
NM_001277115.2(DNAH11):c.2367G>A (p.Leu789=)
|
rs779115290
|
0.00004
|
NM_001277115.2(DNAH11):c.2547A>G (p.Leu849=)
|
rs535761458
|
0.00004
|
NM_001277115.2(DNAH11):c.2772G>A (p.Met924Ile)
|
rs766050153
|
0.00004
|
NM_001277115.2(DNAH11):c.3739A>C (p.Ile1247Leu)
|
rs569089902
|
0.00004
|
NM_001277115.2(DNAH11):c.4884C>G (p.Phe1628Leu)
|
rs762090852
|
0.00004
|
NM_001277115.2(DNAH11):c.4890C>T (p.Phe1630=)
|
rs569494115
|
0.00004
|
NM_001277115.2(DNAH11):c.5295C>T (p.Tyr1765=)
|
rs377687532
|
0.00004
|
NM_001277115.2(DNAH11):c.5850C>T (p.Ile1950=)
|
rs377208329
|
0.00004
|
NM_001277115.2(DNAH11):c.5864T>A (p.Leu1955Gln)
|
rs370052217
|
0.00004
|
NM_001277115.2(DNAH11):c.6143C>G (p.Thr2048Arg)
|
rs184241449
|
0.00004
|
NM_001277115.2(DNAH11):c.6351C>T (p.Val2117=)
|
rs535218781
|
0.00004
|
NM_001277115.2(DNAH11):c.6683+16_6683+18del
|
rs750498878
|
0.00004
|
NM_001277115.2(DNAH11):c.6983+9_6983+10insCCACGGAGTGGAA
|
rs746839743
|
0.00004
|
NM_001277115.2(DNAH11):c.8386C>G (p.Pro2796Ala)
|
rs139912794
|
0.00004
|
NM_001277115.2(DNAH11):c.8778T>G (p.Ile2926Met)
|
rs781151745
|
0.00004
|
NM_001277115.2(DNAH11):c.8797+3G>A
|
rs772995648
|
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.1635C>T (p.Ala545=)
|
rs758221101
|
0.00004
|
NM_001364171.2(ODAD1):c.405C>G (p.Val135=)
|
rs1173208373
|
0.00004
|
NM_001364171.2(ODAD1):c.711G>A (p.Glu237=)
|
rs371432008
|
0.00004
|
NM_001364171.2(ODAD1):c.819G>A (p.Pro273=)
|
rs148382103
|
0.00004
|
NM_001369.3(DNAH5):c.10074T>C (p.Thr3358=)
|
rs375557733
|
0.00004
|
NM_001369.3(DNAH5):c.10192C>T (p.Arg3398Cys)
|
rs147882360
|
0.00004
|
NM_001369.3(DNAH5):c.10368G>A (p.Ala3456=)
|
rs767316134
|
0.00004
|
NM_001369.3(DNAH5):c.10378G>A (p.Val3460Met)
|
rs200012281
|
0.00004
|
NM_001369.3(DNAH5):c.10427T>G (p.Leu3476Arg)
|
rs746513280
|
0.00004
|
NM_001369.3(DNAH5):c.10639C>T (p.Arg3547Trp)
|
rs747041428
|
0.00004
|
NM_001369.3(DNAH5):c.10774A>C (p.Ile3592Leu)
|
rs758395320
|
0.00004
|
NM_001369.3(DNAH5):c.10960G>C (p.Glu3654Gln)
|
rs138486840
|
0.00004
|
NM_001369.3(DNAH5):c.1146T>C (p.Ser382=)
|
rs747174844
|
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.12209C>T (p.Thr4070Ile)
|
rs746662023
|
0.00004
|
NM_001369.3(DNAH5):c.12217G>A (p.Val4073Met)
|
rs757109346
|
0.00004
|
NM_001369.3(DNAH5):c.12499+9A>T
|
rs756789950
|
0.00004
|
NM_001369.3(DNAH5):c.12522C>T (p.Asp4174=)
|
rs376439430
|
0.00004
|
NM_001369.3(DNAH5):c.12558C>T (p.Tyr4186=)
|
rs748817131
|
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.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.1416A>G (p.Lys472=)
|
rs748792501
|
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.2462A>G (p.Asn821Ser)
|
rs750670743
|
0.00004
|
NM_001369.3(DNAH5):c.2622A>G (p.Ser874=)
|
rs1450777548
|
0.00004
|
NM_001369.3(DNAH5):c.3086A>T (p.Asp1029Val)
|
rs201338727
|
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.3612C>T (p.Phe1204=)
|
rs752941536
|
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.4179C>T (p.Gly1393=)
|
rs904428157
|
0.00004
|
NM_001369.3(DNAH5):c.438+7G>A
|
rs906212553
|
0.00004
|
NM_001369.3(DNAH5):c.465G>A (p.Ala155=)
|
rs763709302
|
0.00004
|
NM_001369.3(DNAH5):c.4779A>G (p.Gly1593=)
|
rs766342038
|
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.5256C>G (p.Val1752=)
|
rs375664100
|
0.00004
|
NM_001369.3(DNAH5):c.558C>T (p.Leu186=)
|
rs145895917
|
0.00004
|
NM_001369.3(DNAH5):c.6217A>G (p.Met2073Val)
|
rs752077073
|
0.00004
|
NM_001369.3(DNAH5):c.6551T>C (p.Val2184Ala)
|
rs200805455
|
0.00004
|
NM_001369.3(DNAH5):c.6885G>A (p.Ala2295=)
|
rs762437869
|
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.7475C>T (p.Ala2492Val)
|
rs529080443
|
0.00004
|
NM_001369.3(DNAH5):c.7649T>A (p.Leu2550Gln)
|
rs371695477
|
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.8726G>A (p.Arg2909His)
|
rs756069405
|
0.00004
|
NM_001369.3(DNAH5):c.8815G>A (p.Val2939Ile)
|
rs566080915
|
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.9218A>G (p.Tyr3073Cys)
|
rs138505566
|
0.00004
|
NM_001369.3(DNAH5):c.9374-8C>G
|
rs770720842
|
0.00004
|
NM_001369.3(DNAH5):c.9705C>T (p.Asn3235=)
|
rs770064361
|
0.00004
|
NM_001369.3(DNAH5):c.983G>A (p.Arg328Gln)
|
rs376626613
|
0.00004
|
NM_012144.4(DNAI1):c.1002C>T (p.Ser334=)
|
rs754233819
|
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.1155C>T (p.Gly385=)
|
rs549401132
|
0.00004
|
NM_012144.4(DNAI1):c.1818+13G>A
|
rs369757755
|
0.00004
|
NM_012144.4(DNAI1):c.501+10A>C
|
rs765805502
|
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.42A>G (p.Glu14=)
|
rs199705053
|
0.00004
|
NM_015896.4(ZMYND10):c.79A>G (p.Met27Val)
|
rs587680539
|
0.00004
|
NM_016616.5(NME8):c.144A>G (p.Leu48=)
|
rs199848335
|
0.00004
|
NM_017802.4(DNAAF5):c.1230C>T (p.Thr410=)
|
rs779072395
|
0.00004
|
NM_017802.4(DNAAF5):c.129G>A (p.Lys43=)
|
rs1039124490
|
0.00004
|
NM_017802.4(DNAAF5):c.1341G>A (p.Thr447=)
|
rs200587511
|
0.00004
|
NM_017802.4(DNAAF5):c.1783+8G>A
|
rs758632496
|
0.00004
|
NM_017802.4(DNAAF5):c.1792C>T (p.Leu598=)
|
rs751078064
|
0.00004
|
NM_017802.4(DNAAF5):c.2160C>T (p.Ile720=)
|
rs777084727
|
0.00004
|
NM_017802.4(DNAAF5):c.2334C>T (p.Asn778=)
|
rs544376163
|
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_017950.4(CCDC40):c.1160-10C>T
|
rs757777653
|
0.00004
|
NM_017950.4(CCDC40):c.1761G>A (p.Arg587=)
|
rs560402881
|
0.00004
|
NM_017950.4(CCDC40):c.2853G>A (p.Leu951=)
|
rs768280461
|
0.00004
|
NM_017950.4(CCDC40):c.29+7C>G
|
rs558574170
|
0.00004
|
NM_017950.4(CCDC40):c.3181-15T>C
|
rs376546339
|
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_017950.4(CCDC40):c.940-7G>A
|
rs727504972
|
0.00004
|
NM_018076.5(ODAD2):c.1266T>C (p.Thr422=)
|
rs531062950
|
0.00004
|
NM_018076.5(ODAD2):c.1791G>A (p.Ser597=)
|
rs779015420
|
0.00004
|
NM_018076.5(ODAD2):c.2079C>T (p.Cys693=)
|
rs140338410
|
0.00004
|
NM_018076.5(ODAD2):c.423T>C (p.Tyr141=)
|
rs759039864
|
0.00004
|
NM_018139.3(DNAAF2):c.1503G>T (p.Thr501=)
|
rs201546624
|
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.2490T>C (p.Asn830=)
|
rs774072576
|
0.00004
|
NM_021147.5(CCNO):c.333G>A (p.Ala111=)
|
rs191035273
|
0.00004
|
NM_021147.5(CCNO):c.579C>T (p.His193=)
|
rs552011098
|
0.00004
|
NM_021147.5(CCNO):c.723G>A (p.Thr241=)
|
rs777719468
|
0.00004
|
NM_021147.5(CCNO):c.843C>T (p.Ser281=)
|
rs759691847
|
0.00004
|
NM_023036.6(DNAI2):c.1011C>T (p.Thr337=)
|
rs768490008
|
0.00004
|
NM_023036.6(DNAI2):c.1044G>A (p.Lys348=)
|
rs775726145
|
0.00004
|
NM_023036.6(DNAI2):c.1194G>A (p.Ser398=)
|
rs556547267
|
0.00004
|
NM_023036.6(DNAI2):c.1260G>A (p.Pro420=)
|
rs200043910
|
0.00004
|
NM_023036.6(DNAI2):c.1407C>T (p.Cys469=)
|
rs143723454
|
0.00004
|
NM_023036.6(DNAI2):c.1446G>T (p.Ser482=)
|
rs368217836
|
0.00004
|
NM_023036.6(DNAI2):c.1494C>T (p.Ser498=)
|
rs761516740
|
0.00004
|
NM_023036.6(DNAI2):c.159C>T (p.Cys53=)
|
rs141118738
|
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.1723-13T>C
|
rs374057086
|
0.00004
|
NM_023036.6(DNAI2):c.324C>T (p.Asn108=)
|
rs762726791
|
0.00004
|
NM_023036.6(DNAI2):c.408C>T (p.Asp136=)
|
rs770624431
|
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.891G>A (p.Met297Ile)
|
rs750750518
|
0.00004
|
NM_080860.4(RSPH1):c.501+9A>G
|
rs373972724
|
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_145038.5(DRC1):c.1422C>T (p.Ala474=)
|
rs977739922
|
0.00004
|
NM_145038.5(DRC1):c.1600-7G>A
|
rs780039487
|
0.00004
|
NM_145038.5(DRC1):c.1944A>G (p.Val648=)
|
rs774615084
|
0.00004
|
NM_152732.5(RSPH9):c.671-8T>C
|
rs371183985
|
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.1401C>A (p.Thr467=)
|
rs758659103
|
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.742-6T>C
|
rs749307507
|
0.00004
|
NM_181426.2(CCDC39):c.42G>A (p.Gly14=)
|
rs759103433
|
0.00004
|
NM_213607.3(CCDC103):c.303G>A (p.Thr101=)
|
rs200964903
|
0.00004
|
NM_213607.3(CCDC103):c.393C>T (p.Leu131=)
|
rs766427351
|
0.00004
|
NM_000328.3(RPGR):c.2133C>T (p.Tyr711=)
|
rs779998371
|
0.00003
|
NM_000328.3(RPGR):c.2206A>G (p.Thr736Ala)
|
rs746373784
|
0.00003
|
NM_001010892.3(RSPH4A):c.341C>A (p.Thr114Lys)
|
rs562856574
|
0.00003
|
NM_001034853.2(RPGR):c.1099C>G (p.Pro367Ala)
|
rs769641256
|
0.00003
|
NM_001034853.2(RPGR):c.1356G>A (p.Glu452=)
|
rs763638295
|
0.00003
|
NM_001034853.2(RPGR):c.155-10C>T
|
rs757403373
|
0.00003
|
NM_001206927.2(DNAH8):c.10575A>G (p.Leu3525=)
|
rs747217350
|
0.00003
|
NM_001206927.2(DNAH8):c.13758A>G (p.Lys4586=)
|
rs752727909
|
0.00003
|
NM_001206927.2(DNAH8):c.1770A>G (p.Thr590=)
|
rs758558948
|
0.00003
|
NM_001206927.2(DNAH8):c.309G>A (p.Leu103=)
|
rs768999060
|
0.00003
|
NM_001206927.2(DNAH8):c.4212T>G (p.Val1404=)
|
rs780066300
|
0.00003
|
NM_001206927.2(DNAH8):c.7035G>A (p.Gly2345=)
|
rs376298750
|
0.00003
|
NM_001206927.2(DNAH8):c.8685C>T (p.Cys2895=)
|
rs779311596
|
0.00003
|
NM_001206927.2(DNAH8):c.8742A>G (p.Ala2914=)
|
rs200031658
|
0.00003
|
NM_001206927.2(DNAH8):c.9063+9T>G
|
rs377327365
|
0.00003
|
NM_001256715.2(DNAAF3):c.-65G>C
|
rs1371744369
|
0.00003
|
NM_001256715.2(DNAAF3):c.1074C>T (p.Thr358=)
|
rs372671678
|
0.00003
|
NM_001256715.2(DNAAF3):c.1227G>A (p.Val409=)
|
rs369064646
|
0.00003
|
NM_001256715.2(DNAAF3):c.1389C>A (p.Gly463=)
|
rs374560751
|
0.00003
|
NM_001256715.2(DNAAF3):c.1491G>A (p.Leu497=)
|
rs1366437482
|
0.00003
|
NM_001256715.2(DNAAF3):c.363G>A (p.Leu121=)
|
rs551100219
|
0.00003
|
NM_001277115.2(DNAH11):c.10485G>A (p.Val3495=)
|
rs771238763
|
0.00003
|
NM_001277115.2(DNAH11):c.1072C>G (p.Arg358Gly)
|
rs749125298
|
0.00003
|
NM_001277115.2(DNAH11):c.11203-5C>T
|
rs767345006
|
0.00003
|
NM_001277115.2(DNAH11):c.11442C>T (p.His3814=)
|
rs370056975
|
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.11897A>T (p.Gln3966Leu)
|
rs777783731
|
0.00003
|
NM_001277115.2(DNAH11):c.12146C>T (p.Pro4049Leu)
|
rs1428231658
|
0.00003
|
NM_001277115.2(DNAH11):c.1452T>G (p.Phe484Leu)
|
rs755256285
|
0.00003
|
NM_001277115.2(DNAH11):c.1671A>C (p.Glu557Asp)
|
rs764968620
|
0.00003
|
NM_001277115.2(DNAH11):c.2329C>T (p.Leu777Phe)
|
rs1163253626
|
0.00003
|
NM_001277115.2(DNAH11):c.263A>G (p.Gln88Arg)
|
rs372762132
|
0.00003
|
NM_001277115.2(DNAH11):c.270T>C (p.Leu90=)
|
rs750522660
|
0.00003
|
NM_001277115.2(DNAH11):c.351+17A>G
|
rs936907548
|
0.00003
|
NM_001277115.2(DNAH11):c.4000A>G (p.Ile1334Val)
|
rs117965307
|
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.4944+9T>G
|
rs772306572
|
0.00003
|
NM_001277115.2(DNAH11):c.4971C>T (p.Phe1657=)
|
rs375997343
|
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.7126C>T (p.Leu2376=)
|
rs549049467
|
0.00003
|
NM_001277115.2(DNAH11):c.7417A>G (p.Met2473Val)
|
rs553404548
|
0.00003
|
NM_001277115.2(DNAH11):c.7594A>G (p.Ile2532Val)
|
rs752203815
|
0.00003
|
NM_001277115.2(DNAH11):c.7728C>T (p.Asp2576=)
|
rs368846569
|
0.00003
|
NM_001277115.2(DNAH11):c.8100G>A (p.Thr2700=)
|
rs72657365
|
0.00003
|
NM_001277115.2(DNAH11):c.8247A>G (p.Lys2749=)
|
rs367806628
|
0.00003
|
NM_001277115.2(DNAH11):c.8442G>A (p.Thr2814=)
|
rs865937855
|
0.00003
|
NM_001277115.2(DNAH11):c.9303C>T (p.Asn3101=)
|
rs375713138
|
0.00003
|
NM_001277115.2(DNAH11):c.9484-10C>T
|
rs775144326
|
0.00003
|
NM_001277115.2(DNAH11):c.9884G>A (p.Gly3295Asp)
|
rs554507939
|
0.00003
|
NM_001364171.2(ODAD1):c.1095A>C (p.Ala365=)
|
rs772867955
|
0.00003
|
NM_001364171.2(ODAD1):c.1629C>T (p.Ala543=)
|
rs755014432
|
0.00003
|
NM_001364171.2(ODAD1):c.2117G>A (p.Arg706Gln)
|
rs539314807
|
0.00003
|
NM_001364171.2(ODAD1):c.378G>A (p.Thr126=)
|
rs775223049
|
0.00003
|
NM_001369.3(DNAH5):c.10041G>T (p.Met3347Ile)
|
rs536239913
|
0.00003
|
NM_001369.3(DNAH5):c.10451A>T (p.His3484Leu)
|
rs150532311
|
0.00003
|
NM_001369.3(DNAH5):c.10640G>A (p.Arg3547Gln)
|
rs779977337
|
0.00003
|
NM_001369.3(DNAH5):c.10873-8G>A
|
rs775390566
|
0.00003
|
NM_001369.3(DNAH5):c.11571-9A>G
|
rs779715252
|
0.00003
|
NM_001369.3(DNAH5):c.11586G>A (p.Pro3862=)
|
rs755874851
|
0.00003
|
NM_001369.3(DNAH5):c.11735A>G (p.His3912Arg)
|
rs773929052
|
0.00003
|
NM_001369.3(DNAH5):c.11883+10C>T
|
rs753140220
|
0.00003
|
NM_001369.3(DNAH5):c.11940G>A (p.Glu3980=)
|
rs377018163
|
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.12104C>T (p.Thr4035Met)
|
rs200894344
|
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.12280-9T>C
|
rs759095389
|
0.00003
|
NM_001369.3(DNAH5):c.12414T>C (p.Phe4138=)
|
rs754273700
|
0.00003
|
NM_001369.3(DNAH5):c.12603C>T (p.Phe4201=)
|
rs758897089
|
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.13492-11G>T
|
rs749125197
|
0.00003
|
NM_001369.3(DNAH5):c.1419C>T (p.Phe473=)
|
rs373172723
|
0.00003
|
NM_001369.3(DNAH5):c.1435C>T (p.Arg479Cys)
|
rs200494845
|
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.2816C>T (p.Thr939Met)
|
rs769689167
|
0.00003
|
NM_001369.3(DNAH5):c.2983+7A>G
|
rs756339622
|
0.00003
|
NM_001369.3(DNAH5):c.3064G>A (p.Val1022Ile)
|
rs375218798
|
0.00003
|
NM_001369.3(DNAH5):c.3111C>T (p.Ala1037=)
|
rs371824972
|
0.00003
|
NM_001369.3(DNAH5):c.3175-7A>G
|
rs377328398
|
0.00003
|
NM_001369.3(DNAH5):c.3320A>T (p.Tyr1107Phe)
|
rs367913308
|
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.4331A>G (p.Asn1444Ser)
|
rs567013299
|
0.00003
|
NM_001369.3(DNAH5):c.5028C>A (p.Val1676=)
|
rs1009389873
|
0.00003
|
NM_001369.3(DNAH5):c.5323T>C (p.Leu1775=)
|
rs751794427
|
0.00003
|
NM_001369.3(DNAH5):c.535A>G (p.Thr179Ala)
|
rs755082450
|
0.00003
|
NM_001369.3(DNAH5):c.5472C>T (p.Ser1824=)
|
rs372046349
|
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.6411C>T (p.Leu2137=)
|
rs776835360
|
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.6672A>G (p.Ala2224=)
|
rs1060504236
|
0.00003
|
NM_001369.3(DNAH5):c.6859C>T (p.Arg2287Trp)
|
rs747326567
|
0.00003
|
NM_001369.3(DNAH5):c.7167C>T (p.Thr2389=)
|
rs377435331
|
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.8085C>G (p.Thr2695=)
|
rs147427207
|
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.8821-7A>G
|
rs776228125
|
0.00003
|
NM_001369.3(DNAH5):c.8836C>T (p.Arg2946Cys)
|
rs150899380
|
0.00003
|
NM_001369.3(DNAH5):c.8925C>T (p.Tyr2975=)
|
rs755490391
|
0.00003
|
NM_001369.3(DNAH5):c.9516C>T (p.His3172=)
|
rs1452202315
|
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.975+19T>C
|
rs764847245
|
0.00003
|
NM_012144.4(DNAI1):c.1064-20C>T
|
rs1571404
|
0.00003
|
NM_012144.4(DNAI1):c.1109T>C (p.Leu370Pro)
|
rs201677978
|
0.00003
|
NM_012144.4(DNAI1):c.1455G>A (p.Thr485=)
|
rs200766993
|
0.00003
|
NM_012144.4(DNAI1):c.1599C>T (p.Leu533=)
|
rs150785761
|
0.00003
|
NM_012144.4(DNAI1):c.1773G>A (p.Ala591=)
|
rs547499630
|
0.00003
|
NM_012144.4(DNAI1):c.633C>T (p.Cys211=)
|
rs1021425002
|
0.00003
|
NM_012472.6(DNAAF11):c.1281T>C (p.Asp427=)
|
rs915071476
|
0.00003
|
NM_015896.4(ZMYND10):c.1281A>G (p.Gly427=)
|
rs1417662028
|
0.00003
|
NM_016616.5(NME8):c.311C>T (p.Pro104Leu)
|
rs567620217
|
0.00003
|
NM_017802.4(DNAAF5):c.1025-7G>A
|
rs748574039
|
0.00003
|
NM_017802.4(DNAAF5):c.1083C>T (p.Leu361=)
|
rs139756611
|
0.00003
|
NM_017802.4(DNAAF5):c.2562A>T (p.Thr854=)
|
rs146751534
|
0.00003
|
NM_017950.4(CCDC40):c.1458C>T (p.Asp486=)
|
rs752463994
|
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.2460G>A (p.Glu820=)
|
rs369702545
|
0.00003
|
NM_017950.4(CCDC40):c.2619+9G>A
|
rs752961530
|
0.00003
|
NM_017950.4(CCDC40):c.2925C>T (p.Ala975=)
|
rs776232255
|
0.00003
|
NM_017950.4(CCDC40):c.3258G>C (p.Leu1086=)
|
rs759098835
|
0.00003
|
NM_017950.4(CCDC40):c.336G>A (p.Thr112=)
|
rs539062213
|
0.00003
|
NM_017950.4(CCDC40):c.438C>T (p.Thr146=)
|
rs147879748
|
0.00003
|
NM_017950.4(CCDC40):c.676+11C>G
|
rs761925173
|
0.00003
|
NM_017950.4(CCDC40):c.677-8C>T
|
rs762961824
|
0.00003
|
NM_018076.5(ODAD2):c.2934C>T (p.Asn978=)
|
rs139934178
|
0.00003
|
NM_018076.5(ODAD2):c.657C>T (p.Val219=)
|
rs765025001
|
0.00003
|
NM_018139.3(DNAAF2):c.1227C>G (p.Gly409=)
|
rs1045466672
|
0.00003
|
NM_018139.3(DNAAF2):c.1947G>A (p.Leu649=)
|
rs1175004755
|
0.00003
|
NM_018139.3(DNAAF2):c.2388C>T (p.His796=)
|
rs140997181
|
0.00003
|
NM_018139.3(DNAAF2):c.462C>G (p.Ala154=)
|
rs749642262
|
0.00003
|
NM_021147.5(CCNO):c.567+10G>A
|
rs755915635
|
0.00003
|
NM_021147.5(CCNO):c.999C>T (p.His333=)
|
rs143418535
|
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.1212-6C>T
|
rs751745489
|
0.00003
|
NM_023036.6(DNAI2):c.1278C>T (p.Thr426=)
|
rs370421003
|
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.1659C>T (p.Phe553=)
|
rs372259857
|
0.00003
|
NM_023036.6(DNAI2):c.1683G>A (p.Lys561=)
|
rs767757416
|
0.00003
|
NM_023036.6(DNAI2):c.657C>T (p.Leu219=)
|
rs539461253
|
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.513T>C (p.Pro171=)
|
rs767684217
|
0.00003
|
NM_080860.4(RSPH1):c.727+16G>A
|
rs571130499
|
0.00003
|
NM_145038.5(DRC1):c.1503C>T (p.Asp501=)
|
rs139876504
|
0.00003
|
NM_145038.5(DRC1):c.1605T>C (p.Leu535=)
|
rs773501166
|
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.2097G>A (p.Leu699=)
|
rs200604106
|
0.00003
|
NM_152732.5(RSPH9):c.373G>C (p.Val125Leu)
|
rs199874020
|
0.00003
|
NM_178452.6(DNAAF1):c.114C>T (p.Gly38=)
|
rs772497904
|
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.1587G>A (p.Thr529=)
|
rs769031288
|
0.00003
|
NM_178452.6(DNAAF1):c.1836C>T (p.Asp612=)
|
rs763040302
|
0.00003
|
NM_178452.6(DNAAF1):c.315C>G (p.Thr105=)
|
rs144962513
|
0.00003
|
NM_181426.2(CCDC39):c.1034+7A>T
|
rs191242640
|
0.00003
|
NM_213607.3(CCDC103):c.486G>A (p.Ala162=)
|
rs562183648
|
0.00003
|
NM_000328.3(RPGR):c.1935A>G (p.Leu645=)
|
rs781266050
|
0.00002
|
NM_001010892.3(RSPH4A):c.2135A>G (p.Glu712Gly)
|
rs765412618
|
0.00002
|
NM_001010892.3(RSPH4A):c.922-18C>T
|
rs1232890638
|
0.00002
|
NM_001034853.2(RPGR):c.1257A>C (p.Pro419=)
|
rs759743089
|
0.00002
|
NM_001034853.2(RPGR):c.1695A>G (p.Gln565=)
|
rs1315296776
|
0.00002
|
NM_001034853.2(RPGR):c.28+15C>T
|
rs2068068838
|
0.00002
|
NM_001034853.2(RPGR):c.470-19C>T
|
rs752337687
|
0.00002
|
NM_001034853.2(RPGR):c.603T>C (p.His201=)
|
rs765580620
|
0.00002
|
NM_001190787.3(MCIDAS):c.123C>T (p.Phe41=)
|
rs748821872
|
0.00002
|
NM_001206927.2(DNAH8):c.11205T>C (p.His3735=)
|
rs1247723445
|
0.00002
|
NM_001206927.2(DNAH8):c.11709C>A (p.Thr3903=)
|
rs145061720
|
0.00002
|
NM_001206927.2(DNAH8):c.1596A>C (p.Pro532=)
|
rs769852680
|
0.00002
|
NM_001206927.2(DNAH8):c.2163C>T (p.Asp721=)
|
rs200007655
|
0.00002
|
NM_001206927.2(DNAH8):c.6183C>T (p.Pro2061=)
|
rs143246100
|
0.00002
|
NM_001206927.2(DNAH8):c.6311-5G>A
|
rs372864115
|
0.00002
|
NM_001206927.2(DNAH8):c.7230T>G (p.Ala2410=)
|
rs138406301
|
0.00002
|
NM_001256715.2(DNAAF3):c.1049-3C>T
|
rs747311078
|
0.00002
|
NM_001256715.2(DNAAF3):c.1251C>T (p.Asp417=)
|
rs779990994
|
0.00002
|
NM_001256715.2(DNAAF3):c.1578G>A (p.Gly526=)
|
rs899636986
|
0.00002
|
NM_001256715.2(DNAAF3):c.1590G>A (p.Pro530=)
|
rs368857479
|
0.00002
|
NM_001277115.2(DNAH11):c.1053G>A (p.Glu351=)
|
rs201475447
|
0.00002
|
NM_001277115.2(DNAH11):c.11041G>A (p.Val3681Met)
|
rs371617349
|
0.00002
|
NM_001277115.2(DNAH11):c.11811A>G (p.Val3937=)
|
rs1288573843
|
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.12848T>C (p.Leu4283Pro)
|
rs373110271
|
0.00002
|
NM_001277115.2(DNAH11):c.12934-17T>G
|
rs754425843
|
0.00002
|
NM_001277115.2(DNAH11):c.13212G>A (p.Thr4404=)
|
rs774004689
|
0.00002
|
NM_001277115.2(DNAH11):c.1710+8C>G
|
rs554141853
|
0.00002
|
NM_001277115.2(DNAH11):c.1901A>T (p.Asn634Ile)
|
rs575221219
|
0.00002
|
NM_001277115.2(DNAH11):c.2668-14T>C
|
rs775720541
|
0.00002
|
NM_001277115.2(DNAH11):c.3714T>G (p.Pro1238=)
|
rs780975797
|
0.00002
|
NM_001277115.2(DNAH11):c.3790A>G (p.Arg1264Gly)
|
rs749057056
|
0.00002
|
NM_001277115.2(DNAH11):c.4353G>A (p.Ala1451=)
|
rs373969291
|
0.00002
|
NM_001277115.2(DNAH11):c.444T>C (p.Phe148=)
|
rs930817553
|
0.00002
|
NM_001277115.2(DNAH11):c.4539A>G (p.Glu1513=)
|
rs572309789
|
0.00002
|
NM_001277115.2(DNAH11):c.4842C>T (p.Leu1614=)
|
rs755293443
|
0.00002
|
NM_001277115.2(DNAH11):c.4920C>T (p.Leu1640=)
|
rs746563330
|
0.00002
|
NM_001277115.2(DNAH11):c.495+18A>G
|
rs779666043
|
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.5433C>T (p.Asp1811=)
|
rs761154725
|
0.00002
|
NM_001277115.2(DNAH11):c.5501G>A (p.Arg1834His)
|
rs750430725
|
0.00002
|
NM_001277115.2(DNAH11):c.6005G>A (p.Arg2002Gln)
|
rs755849132
|
0.00002
|
NM_001277115.2(DNAH11):c.6190G>A (p.Asp2064Asn)
|
rs756809691
|
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.7134+10C>T
|
rs757164819
|
0.00002
|
NM_001277115.2(DNAH11):c.7641G>A (p.Leu2547=)
|
rs1247351644
|
0.00002
|
NM_001277115.2(DNAH11):c.7863C>T (p.Val2621=)
|
rs755501742
|
0.00002
|
NM_001277115.2(DNAH11):c.8155-14T>C
|
rs772631712
|
0.00002
|
NM_001277115.2(DNAH11):c.8353A>G (p.Ile2785Val)
|
rs776228270
|
0.00002
|
NM_001277115.2(DNAH11):c.8427G>A (p.Thr2809=)
|
rs745714334
|
0.00002
|
NM_001277115.2(DNAH11):c.8511-16C>T
|
rs563123099
|
0.00002
|
NM_001277115.2(DNAH11):c.8577T>C (p.Ser2859=)
|
rs373450811
|
0.00002
|
NM_001277115.2(DNAH11):c.8941-12A>T
|
rs886038475
|
0.00002
|
NM_001277115.2(DNAH11):c.9063C>T (p.Ser3021=)
|
rs368820581
|
0.00002
|
NM_001277115.2(DNAH11):c.9484-16T>C
|
rs769533775
|
0.00002
|
NM_001277115.2(DNAH11):c.9924+12A>G
|
rs760445518
|
0.00002
|
NM_001364171.2(ODAD1):c.144A>G (p.Glu48=)
|
rs377679653
|
0.00002
|
NM_001364171.2(ODAD1):c.1572G>A (p.Val524=)
|
rs1296406880
|
0.00002
|
NM_001364171.2(ODAD1):c.170+11C>T
|
rs554528909
|
0.00002
|
NM_001364171.2(ODAD1):c.1800C>T (p.Gly600=)
|
rs570425201
|
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.729C>T (p.Ser243=)
|
rs547074727
|
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.10230G>A (p.Thr3410=)
|
rs765000004
|
0.00002
|
NM_001369.3(DNAH5):c.10434T>C (p.Asp3478=)
|
rs758443484
|
0.00002
|
NM_001369.3(DNAH5):c.10584A>G (p.Leu3528=)
|
rs765951022
|
0.00002
|
NM_001369.3(DNAH5):c.10599A>G (p.Pro3533=)
|
rs970408067
|
0.00002
|
NM_001369.3(DNAH5):c.1092A>G (p.Leu364=)
|
rs759149687
|
0.00002
|
NM_001369.3(DNAH5):c.11130T>C (p.Arg3710=)
|
rs765391783
|
0.00002
|
NM_001369.3(DNAH5):c.11212-18A>C
|
rs753193432
|
0.00002
|
NM_001369.3(DNAH5):c.11395C>T (p.Leu3799=)
|
rs1478663527
|
0.00002
|
NM_001369.3(DNAH5):c.11438G>A (p.Arg3813Gln)
|
rs143612682
|
0.00002
|
NM_001369.3(DNAH5):c.11455+7T>G
|
rs774101738
|
0.00002
|
NM_001369.3(DNAH5):c.11570+4C>T
|
rs771601699
|
0.00002
|
NM_001369.3(DNAH5):c.1158C>T (p.Tyr386=)
|
rs970684923
|
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.12582T>C (p.Thr4194=)
|
rs1428718985
|
0.00002
|
NM_001369.3(DNAH5):c.12727C>T (p.Arg4243Cys)
|
rs150357258
|
0.00002
|
NM_001369.3(DNAH5):c.13005C>T (p.Thr4335=)
|
rs755271975
|
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.13641G>A (p.Lys4547=)
|
rs746445145
|
0.00002
|
NM_001369.3(DNAH5):c.13646A>T (p.Asn4549Ile)
|
rs779267747
|
0.00002
|
NM_001369.3(DNAH5):c.1398G>A (p.Glu466=)
|
rs759227909
|
0.00002
|
NM_001369.3(DNAH5):c.1537-10A>T
|
rs777597757
|
0.00002
|
NM_001369.3(DNAH5):c.1611C>T (p.Tyr537=)
|
rs367877988
|
0.00002
|
NM_001369.3(DNAH5):c.1823C>G (p.Thr608Arg)
|
rs781059966
|
0.00002
|
NM_001369.3(DNAH5):c.1836C>T (p.Tyr612=)
|
rs1035218078
|
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.1892G>A (p.Arg631His)
|
rs370272258
|
0.00002
|
NM_001369.3(DNAH5):c.1905T>C (p.His635=)
|
rs545295433
|
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.2089T>C (p.Leu697=)
|
rs146842552
|
0.00002
|
NM_001369.3(DNAH5):c.2838A>G (p.Lys946=)
|
rs1035669978
|
0.00002
|
NM_001369.3(DNAH5):c.291T>C (p.Ser97=)
|
rs777683929
|
0.00002
|
NM_001369.3(DNAH5):c.2985C>T (p.Asp995=)
|
rs779686658
|
0.00002
|
NM_001369.3(DNAH5):c.3039C>T (p.Ser1013=)
|
rs560267080
|
0.00002
|
NM_001369.3(DNAH5):c.3144C>T (p.Val1048=)
|
rs758437071
|
0.00002
|
NM_001369.3(DNAH5):c.3300C>T (p.Pro1100=)
|
rs375299394
|
0.00002
|
NM_001369.3(DNAH5):c.3666C>T (p.Asn1222=)
|
rs542552959
|
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.3897T>C (p.Val1299=)
|
rs749416187
|
0.00002
|
NM_001369.3(DNAH5):c.4104T>A (p.Leu1368=)
|
rs775914213
|
0.00002
|
NM_001369.3(DNAH5):c.4319A>C (p.Glu1440Ala)
|
rs147322363
|
0.00002
|
NM_001369.3(DNAH5):c.4332T>C (p.Asn1444=)
|
rs1246376656
|
0.00002
|
NM_001369.3(DNAH5):c.4443G>A (p.Pro1481=)
|
rs141196881
|
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.4783C>T (p.Leu1595=)
|
rs945098046
|
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.536C>T (p.Thr179Met)
|
rs747116308
|
0.00002
|
NM_001369.3(DNAH5):c.5398T>C (p.Leu1800=)
|
rs201266962
|
0.00002
|
NM_001369.3(DNAH5):c.5484+10T>C
|
rs564286425
|
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.5817G>A (p.Ala1939=)
|
rs556936569
|
0.00002
|
NM_001369.3(DNAH5):c.5895G>A (p.Thr1965=)
|
rs537016848
|
0.00002
|
NM_001369.3(DNAH5):c.594G>A (p.Glu198=)
|
rs769718109
|
0.00002
|
NM_001369.3(DNAH5):c.6167A>T (p.Lys2056Ile)
|
rs578128759
|
0.00002
|
NM_001369.3(DNAH5):c.636T>G (p.Gly212=)
|
rs376360357
|
0.00002
|
NM_001369.3(DNAH5):c.6381C>T (p.Asn2127=)
|
rs767344710
|
0.00002
|
NM_001369.3(DNAH5):c.6580-10C>A
|
rs563828042
|
0.00002
|
NM_001369.3(DNAH5):c.660+10A>G
|
rs750383077
|
0.00002
|
NM_001369.3(DNAH5):c.672A>G (p.Arg224=)
|
rs147445110
|
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.7098G>C (p.Arg2366=)
|
rs768567429
|
0.00002
|
NM_001369.3(DNAH5):c.7296C>T (p.Phe2432=)
|
rs748328316
|
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.7620G>A (p.Thr2540=)
|
rs541631905
|
0.00002
|
NM_001369.3(DNAH5):c.7656G>A (p.Pro2552=)
|
rs764554950
|
0.00002
|
NM_001369.3(DNAH5):c.7761A>G (p.Leu2587=)
|
rs1759853119
|
0.00002
|
NM_001369.3(DNAH5):c.7887+7G>C
|
rs775316918
|
0.00002
|
NM_001369.3(DNAH5):c.7935C>T (p.Gly2645=)
|
rs780409299
|
0.00002
|
NM_001369.3(DNAH5):c.799-10G>T
|
rs750556389
|
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.8151C>A (p.Pro2717=)
|
rs758202463
|
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.8332A>C (p.Lys2778Gln)
|
rs750987249
|
0.00002
|
NM_001369.3(DNAH5):c.841G>A (p.Val281Ile)
|
rs548585661
|
0.00002
|
NM_001369.3(DNAH5):c.8634A>T (p.Ala2878=)
|
rs749428414
|
0.00002
|
NM_001369.3(DNAH5):c.8685A>G (p.Lys2895=)
|
rs553405333
|
0.00002
|
NM_001369.3(DNAH5):c.8725C>T (p.Arg2909Cys)
|
rs369744828
|
0.00002
|
NM_001369.3(DNAH5):c.8772C>T (p.Ala2924=)
|
rs552458966
|
0.00002
|
NM_001369.3(DNAH5):c.8948C>T (p.Thr2983Met)
|
rs750809719
|
0.00002
|
NM_001369.3(DNAH5):c.9111T>C (p.Ser3037=)
|
rs765029802
|
0.00002
|
NM_001369.3(DNAH5):c.9129T>C (p.Asp3043=)
|
rs528498959
|
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.9306C>T (p.Phe3102=)
|
rs773708332
|
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.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_001369.3(DNAH5):c.9975C>T (p.Cys3325=)
|
rs771715883
|
0.00002
|
NM_012144.4(DNAI1):c.1167C>T (p.Leu389=)
|
rs756277063
|
0.00002
|
NM_012144.4(DNAI1):c.1344C>T (p.Asn448=)
|
rs780830330
|
0.00002
|
NM_012144.4(DNAI1):c.1503C>T (p.Ala501=)
|
rs377601344
|
0.00002
|
NM_012144.4(DNAI1):c.1718+10C>T
|
rs538329068
|
0.00002
|
NM_012144.4(DNAI1):c.1722C>T (p.Thr574=)
|
rs548602580
|
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.1818+12C>T
|
rs770963117
|
0.00002
|
NM_012144.4(DNAI1):c.1877C>T (p.Ala626Val)
|
rs565034311
|
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.228C>T (p.His76=)
|
rs760014707
|
0.00002
|
NM_012144.4(DNAI1):c.666A>C (p.Ser222=)
|
rs746805669
|
0.00002
|
NM_016616.5(NME8):c.1302C>T (p.Ser434=)
|
rs369550926
|
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.1281C>T (p.Val427=)
|
rs749052581
|
0.00002
|
NM_017802.4(DNAAF5):c.1410G>A (p.Pro470=)
|
rs202182894
|
0.00002
|
NM_017802.4(DNAAF5):c.1626G>A (p.Thr542=)
|
rs368538461
|
0.00002
|
NM_017802.4(DNAAF5):c.1866C>T (p.Arg622=)
|
rs754316026
|
0.00002
|
NM_017802.4(DNAAF5):c.1932-19C>T
|
rs762597761
|
0.00002
|
NM_017802.4(DNAAF5):c.2475G>A (p.Val825=)
|
rs762526450
|
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.426C>T (p.Arg142=)
|
rs1464201003
|
0.00002
|
NM_017950.4(CCDC40):c.141C>T (p.Val47=)
|
rs756511342
|
0.00002
|
NM_017950.4(CCDC40):c.2292C>T (p.Asp764=)
|
rs758047721
|
0.00002
|
NM_017950.4(CCDC40):c.2298C>T (p.His766=)
|
rs754496723
|
0.00002
|
NM_017950.4(CCDC40):c.2328C>T (p.Thr776=)
|
rs1225610254
|
0.00002
|
NM_017950.4(CCDC40):c.2967C>T (p.Thr989=)
|
rs199575834
|
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.399C>T (p.Ser133=)
|
rs371207249
|
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_018076.5(ODAD2):c.1677C>T (p.Ile559=)
|
rs182410357
|
0.00002
|
NM_018139.3(DNAAF2):c.126G>A (p.Glu42=)
|
rs373348391
|
0.00002
|
NM_018139.3(DNAAF2):c.168C>T (p.Ile56=)
|
rs768247249
|
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.2415A>G (p.Lys805=)
|
rs201826641
|
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_021147.5(CCNO):c.210C>T (p.Gly70=)
|
rs373209105
|
0.00002
|
NM_023036.6(DNAI2):c.1095C>T (p.Gly365=)
|
rs746037775
|
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.1575G>A (p.Ala525=)
|
rs767324607
|
0.00002
|
NM_023036.6(DNAI2):c.1614C>T (p.Ala538=)
|
rs376265471
|
0.00002
|
NM_023036.6(DNAI2):c.1671C>T (p.Phe557=)
|
rs766594632
|
0.00002
|
NM_023036.6(DNAI2):c.21C>T (p.Tyr7=)
|
rs764381446
|
0.00002
|
NM_023036.6(DNAI2):c.290G>A (p.Arg97Gln)
|
rs775926673
|
0.00002
|
NM_023036.6(DNAI2):c.87C>T (p.Ile29=)
|
rs768747332
|
0.00002
|
NM_080860.4(RSPH1):c.398C>T (p.Thr133Met)
|
rs529237191
|
0.00002
|
NM_080860.4(RSPH1):c.399G>A (p.Thr133=)
|
rs760016966
|
0.00002
|
NM_080860.4(RSPH1):c.798T>C (p.Pro266=)
|
rs577891231
|
0.00002
|
NM_145038.5(DRC1):c.1028+20G>A
|
rs766939128
|
0.00002
|
NM_145038.5(DRC1):c.1776G>A (p.Thr592=)
|
rs750675673
|
0.00002
|
NM_145038.5(DRC1):c.1977G>A (p.Ser659=)
|
rs368854171
|
0.00002
|
NM_145038.5(DRC1):c.561C>T (p.Asp187=)
|
rs147573624
|
0.00002
|
NM_145038.5(DRC1):c.87C>T (p.Ser29=)
|
rs768704103
|
0.00002
|
NM_152732.5(RSPH9):c.18C>G (p.Leu6=)
|
rs768726027
|
0.00002
|
NM_152732.5(RSPH9):c.798C>T (p.Gly266=)
|
rs770913202
|
0.00002
|
NM_178452.6(DNAAF1):c.1452G>A (p.Glu484=)
|
rs773473941
|
0.00002
|
NM_178452.6(DNAAF1):c.1645-9C>A
|
rs775351767
|
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.598T>C (p.Leu200=)
|
rs776685379
|
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.2346A>G (p.Ser782=)
|
rs1196118420
|
0.00002
|
NM_181426.2(CCDC39):c.610-15C>T
|
rs184123763
|
0.00002
|
NM_181426.2(CCDC39):c.993T>C (p.Asn331=)
|
rs867488884
|
0.00002
|
NM_000328.3(RPGR):c.1909C>G (p.His637Asp)
|
rs1386160264
|
0.00001
|
NM_000328.3(RPGR):c.2304G>A (p.Pro768=)
|
rs781426804
|
0.00001
|
NM_001010892.3(RSPH4A):c.1488C>T (p.His496=)
|
rs367598099
|
0.00001
|
NM_001010892.3(RSPH4A):c.1536G>A (p.Glu512=)
|
rs533664718
|
0.00001
|
NM_001010892.3(RSPH4A):c.1764G>A (p.Gly588=)
|
rs376516018
|
0.00001
|
NM_001010892.3(RSPH4A):c.1798+10C>T
|
rs376023642
|
0.00001
|
NM_001010892.3(RSPH4A):c.279T>C (p.Ser93=)
|
rs755522050
|
0.00001
|
NM_001010892.3(RSPH4A):c.492G>A (p.Arg164=)
|
rs532331878
|
0.00001
|
NM_001010892.3(RSPH4A):c.540T>C (p.Val180=)
|
rs754223456
|
0.00001
|
NM_001010892.3(RSPH4A):c.711G>A (p.Leu237=)
|
rs752300778
|
0.00001
|
NM_001034853.2(RPGR):c.1059+9A>G
|
rs781086486
|
0.00001
|
NM_001034853.2(RPGR):c.1437C>G (p.Thr479=)
|
rs1048927882
|
0.00001
|
NM_001034853.2(RPGR):c.1524G>A (p.Leu508=)
|
rs1044418804
|
0.00001
|
NM_001034853.2(RPGR):c.1590G>A (p.Gly530=)
|
rs375288851
|
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.2135A>G (p.Gln712Arg)
|
rs749852225
|
0.00001
|
NM_001034853.2(RPGR):c.247+8A>G
|
rs1290611493
|
0.00001
|
NM_001034853.2(RPGR):c.248-8A>G
|
rs775563204
|
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.858C>T (p.Pro286=)
|
rs1387222365
|
0.00001
|
NM_001034853.2(RPGR):c.969C>T (p.Arg323=)
|
rs1308025811
|
0.00001
|
NM_001190787.3(MCIDAS):c.121-7C>T
|
rs557532764
|
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.228C>T (p.Thr76=)
|
rs892066931
|
0.00001
|
NM_001190787.3(MCIDAS):c.303C>G (p.Ala101=)
|
rs1377331198
|
0.00001
|
NM_001190787.3(MCIDAS):c.489G>A (p.Arg163=)
|
rs997588146
|
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.750G>A (p.Gly250=)
|
rs1299808054
|
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.930G>A (p.Ala310=)
|
rs1047248559
|
0.00001
|
NM_001206927.2(DNAH8):c.102G>A (p.Pro34=)
|
rs767245332
|
0.00001
|
NM_001206927.2(DNAH8):c.10663-6C>A
|
rs757221950
|
0.00001
|
NM_001206927.2(DNAH8):c.10707C>T (p.Ala3569=)
|
rs201956190
|
0.00001
|
NM_001206927.2(DNAH8):c.10790+4G>A
|
rs571129029
|
0.00001
|
NM_001206927.2(DNAH8):c.11119-12C>A
|
rs370228349
|
0.00001
|
NM_001206927.2(DNAH8):c.11208A>G (p.Glu3736=)
|
rs751241140
|
0.00001
|
NM_001206927.2(DNAH8):c.11403A>G (p.Thr3801=)
|
rs1201651090
|
0.00001
|
NM_001206927.2(DNAH8):c.114A>G (p.Thr38=)
|
rs543402162
|
0.00001
|
NM_001206927.2(DNAH8):c.11604A>C (p.Arg3868=)
|
rs775507408
|
0.00001
|
NM_001206927.2(DNAH8):c.1167A>G (p.Pro389=)
|
rs1254302655
|
0.00001
|
NM_001206927.2(DNAH8):c.11910C>T (p.Tyr3970=)
|
rs372031053
|
0.00001
|
NM_001206927.2(DNAH8):c.120G>A (p.Glu40=)
|
rs1248099376
|
0.00001
|
NM_001206927.2(DNAH8):c.12459A>G (p.Arg4153=)
|
rs1278488176
|
0.00001
|
NM_001206927.2(DNAH8):c.12480A>C (p.Gly4160=)
|
rs747928749
|
0.00001
|
NM_001206927.2(DNAH8):c.12609C>T (p.Ala4203=)
|
rs1405669084
|
0.00001
|
NM_001206927.2(DNAH8):c.12759C>T (p.Asp4253=)
|
rs1487747795
|
0.00001
|
NM_001206927.2(DNAH8):c.12834+8C>T
|
rs768834028
|
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.1293+14T>C
|
rs1227020243
|
0.00001
|
NM_001206927.2(DNAH8):c.13053+9A>G
|
rs775870826
|
0.00001
|
NM_001206927.2(DNAH8):c.13467C>G (p.Leu4489=)
|
rs770586900
|
0.00001
|
NM_001206927.2(DNAH8):c.13524+9T>G
|
rs1316465389
|
0.00001
|
NM_001206927.2(DNAH8):c.1360T>C (p.Leu454=)
|
rs745600456
|
0.00001
|
NM_001206927.2(DNAH8):c.13674G>A (p.Arg4558=)
|
rs763105332
|
0.00001
|
NM_001206927.2(DNAH8):c.1491G>A (p.Glu497=)
|
rs749972728
|
0.00001
|
NM_001206927.2(DNAH8):c.1618-13A>G
|
rs567349049
|
0.00001
|
NM_001206927.2(DNAH8):c.1704T>C (p.Phe568=)
|
rs773683890
|
0.00001
|
NM_001206927.2(DNAH8):c.1824A>G (p.Glu608=)
|
rs768278758
|
0.00001
|
NM_001206927.2(DNAH8):c.2031A>G (p.Leu677=)
|
rs1385926341
|
0.00001
|
NM_001206927.2(DNAH8):c.210G>A (p.Gly70=)
|
rs1462801040
|
0.00001
|
NM_001206927.2(DNAH8):c.2202A>G (p.Lys734=)
|
rs372312350
|
0.00001
|
NM_001206927.2(DNAH8):c.2395+9A>G
|
rs756644206
|
0.00001
|
NM_001206927.2(DNAH8):c.2396-19_2396-18dup
|
rs757413994
|
0.00001
|
NM_001206927.2(DNAH8):c.2443C>T (p.Leu815=)
|
rs201728691
|
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.2708C>T (p.Ser903Leu)
|
rs569365870
|
0.00001
|
NM_001206927.2(DNAH8):c.2719C>T (p.Leu907=)
|
rs1060504238
|
0.00001
|
NM_001206927.2(DNAH8):c.2910A>G (p.Thr970=)
|
rs1361594978
|
0.00001
|
NM_001206927.2(DNAH8):c.3035-15G>A
|
rs779326611
|
0.00001
|
NM_001206927.2(DNAH8):c.3183T>C (p.His1061=)
|
rs751347468
|
0.00001
|
NM_001206927.2(DNAH8):c.3333+18C>T
|
rs768718204
|
0.00001
|
NM_001206927.2(DNAH8):c.4224A>G (p.Pro1408=)
|
rs778459478
|
0.00001
|
NM_001206927.2(DNAH8):c.4749C>T (p.Ser1583=)
|
rs749021658
|
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.5694A>G (p.Gly1898=)
|
rs747442455
|
0.00001
|
NM_001206927.2(DNAH8):c.5931G>A (p.Val1977=)
|
rs1358279971
|
0.00001
|
NM_001206927.2(DNAH8):c.6012A>G (p.Arg2004=)
|
rs769654987
|
0.00001
|
NM_001206927.2(DNAH8):c.6654C>T (p.Tyr2218=)
|
rs551682867
|
0.00001
|
NM_001206927.2(DNAH8):c.6726G>A (p.Leu2242=)
|
rs878854275
|
0.00001
|
NM_001206927.2(DNAH8):c.684G>A (p.Pro228=)
|
rs202079713
|
0.00001
|
NM_001206927.2(DNAH8):c.691C>T (p.Leu231=)
|
rs757197800
|
0.00001
|
NM_001206927.2(DNAH8):c.6G>A (p.Glu2=)
|
rs774924483
|
0.00001
|
NM_001206927.2(DNAH8):c.7329G>T (p.Thr2443=)
|
rs114719419
|
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.8136+10A>G
|
rs1393379862
|
0.00001
|
NM_001206927.2(DNAH8):c.8137-8C>G
|
rs1430799915
|
0.00001
|
NM_001206927.2(DNAH8):c.8474-20C>G
|
rs749389050
|
0.00001
|
NM_001206927.2(DNAH8):c.9194+16A>G
|
rs1359954070
|
0.00001
|
NM_001206927.2(DNAH8):c.9714A>C (p.Ser3238=)
|
rs752620022
|
0.00001
|
NM_001206927.2(DNAH8):c.9906T>G (p.Ser3302=)
|
rs1240149198
|
0.00001
|
NM_001256715.2(DNAAF3):c.-59C>T
|
rs376972065
|
0.00001
|
NM_001256715.2(DNAAF3):c.1131C>T (p.Asn377=)
|
rs368717048
|
0.00001
|
NM_001256715.2(DNAAF3):c.1209C>T (p.Pro403=)
|
rs373798404
|
0.00001
|
NM_001256715.2(DNAAF3):c.1431C>T (p.Asp477=)
|
rs759571188
|
0.00001
|
NM_001256715.2(DNAAF3):c.159C>T (p.Gly53=)
|
rs529300481
|
0.00001
|
NM_001256715.2(DNAAF3):c.322+17C>T
|
rs200093913
|
0.00001
|
NM_001256715.2(DNAAF3):c.372G>A (p.Pro124=)
|
rs1048936417
|
0.00001
|
NM_001256715.2(DNAAF3):c.609C>T (p.Asp203=)
|
rs750637503
|
0.00001
|
NM_001256715.2(DNAAF3):c.664-17C>G
|
rs1003385260
|
0.00001
|
NM_001256715.2(DNAAF3):c.927C>T (p.Ile309=)
|
rs191818542
|
0.00001
|
NM_001277115.2(DNAH11):c.1002T>C (p.Asp334=)
|
rs370925563
|
0.00001
|
NM_001277115.2(DNAH11):c.10085A>C (p.Lys3362Thr)
|
rs756499246
|
0.00001
|
NM_001277115.2(DNAH11):c.10161G>A (p.Glu3387=)
|
rs1060504816
|
0.00001
|
NM_001277115.2(DNAH11):c.10252G>T (p.Val3418Leu)
|
rs771057807
|
0.00001
|
NM_001277115.2(DNAH11):c.10419G>T (p.Leu3473=)
|
rs1460402546
|
0.00001
|
NM_001277115.2(DNAH11):c.10441G>A (p.Glu3481Lys)
|
rs727502969
|
0.00001
|
NM_001277115.2(DNAH11):c.10473C>G (p.Arg3491=)
|
rs373124847
|
0.00001
|
NM_001277115.2(DNAH11):c.10481T>C (p.Leu3494Pro)
|
rs747354470
|
0.00001
|
NM_001277115.2(DNAH11):c.10591G>A (p.Ala3531Thr)
|
rs1045314694
|
0.00001
|
NM_001277115.2(DNAH11):c.10836A>G (p.Leu3612=)
|
rs966613143
|
0.00001
|
NM_001277115.2(DNAH11):c.10841C>A (p.Ala3614Asp)
|
rs747186804
|
0.00001
|
NM_001277115.2(DNAH11):c.10932T>C (p.Ile3644=)
|
rs763919077
|
0.00001
|
NM_001277115.2(DNAH11):c.11061+10G>A
|
rs755667405
|
0.00001
|
NM_001277115.2(DNAH11):c.11087G>A (p.Arg3696Lys)
|
rs1262229619
|
0.00001
|
NM_001277115.2(DNAH11):c.11181C>A (p.Pro3727=)
|
rs1307164299
|
0.00001
|
NM_001277115.2(DNAH11):c.11421G>A (p.Leu3807=)
|
rs1783198728
|
0.00001
|
NM_001277115.2(DNAH11):c.11546G>T (p.Gly3849Val)
|
rs145735492
|
0.00001
|
NM_001277115.2(DNAH11):c.11650C>G (p.Leu3884Val)
|
rs748676766
|
0.00001
|
NM_001277115.2(DNAH11):c.11747T>C (p.Leu3916Ser)
|
rs538666182
|
0.00001
|
NM_001277115.2(DNAH11):c.11793C>T (p.Phe3931=)
|
rs774332996
|
0.00001
|
NM_001277115.2(DNAH11):c.11883T>C (p.Asn3961=)
|
rs1458288272
|
0.00001
|
NM_001277115.2(DNAH11):c.11968-9A>C
|
rs1018931263
|
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.12108A>G (p.Gly4036=)
|
rs750427824
|
0.00001
|
NM_001277115.2(DNAH11):c.12196-4C>A
|
rs772933789
|
0.00001
|
NM_001277115.2(DNAH11):c.12250C>G (p.Leu4084Val)
|
rs878854437
|
0.00001
|
NM_001277115.2(DNAH11):c.12501A>T (p.Pro4167=)
|
rs1400685210
|
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.12616C>A (p.Leu4206Met)
|
rs777004813
|
0.00001
|
NM_001277115.2(DNAH11):c.12672T>C (p.Thr4224=)
|
rs772085365
|
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.12819A>G (p.Gln4273=)
|
rs747797186
|
0.00001
|
NM_001277115.2(DNAH11):c.13035T>C (p.Tyr4345=)
|
rs545264816
|
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.13143C>T (p.Asn4381=)
|
rs758419340
|
0.00001
|
NM_001277115.2(DNAH11):c.13278A>T (p.Ala4426=)
|
rs773266815
|
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.1515C>T (p.His505=)
|
rs773061951
|
0.00001
|
NM_001277115.2(DNAH11):c.1677C>T (p.Phe559=)
|
rs771371993
|
0.00001
|
NM_001277115.2(DNAH11):c.1719C>A (p.Thr573=)
|
rs749092321
|
0.00001
|
NM_001277115.2(DNAH11):c.1773T>C (p.His591=)
|
rs1325191043
|
0.00001
|
NM_001277115.2(DNAH11):c.1788G>A (p.Val596=)
|
rs976690309
|
0.00001
|
NM_001277115.2(DNAH11):c.1833T>C (p.Asn611=)
|
rs763330132
|
0.00001
|
NM_001277115.2(DNAH11):c.1974-4A>G
|
rs774225092
|
0.00001
|
NM_001277115.2(DNAH11):c.1995C>T (p.His665=)
|
rs752831166
|
0.00001
|
NM_001277115.2(DNAH11):c.2013G>A (p.Lys671=)
|
rs752070111
|
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.2170-10A>T
|
rs762557236
|
0.00001
|
NM_001277115.2(DNAH11):c.2256A>G (p.Lys752=)
|
rs775806737
|
0.00001
|
NM_001277115.2(DNAH11):c.2278A>G (p.Ile760Val)
|
rs768205792
|
0.00001
|
NM_001277115.2(DNAH11):c.2379C>T (p.Asp793=)
|
rs375262840
|
0.00001
|
NM_001277115.2(DNAH11):c.2409G>A (p.Leu803=)
|
rs1048426613
|
0.00001
|
NM_001277115.2(DNAH11):c.2485C>T (p.Arg829Cys)
|
rs767607595
|
0.00001
|
NM_001277115.2(DNAH11):c.2515C>G (p.Gln839Glu)
|
rs1427132712
|
0.00001
|
NM_001277115.2(DNAH11):c.2664C>T (p.Val888=)
|
rs757649943
|
0.00001
|
NM_001277115.2(DNAH11):c.2697C>T (p.Pro899=)
|
rs1166219486
|
0.00001
|
NM_001277115.2(DNAH11):c.2750A>T (p.Glu917Val)
|
rs543944909
|
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.3000+13T>C
|
rs1359567923
|
0.00001
|
NM_001277115.2(DNAH11):c.3050T>G (p.Met1017Arg)
|
rs949130021
|
0.00001
|
NM_001277115.2(DNAH11):c.3117C>T (p.Tyr1039=)
|
rs760622693
|
0.00001
|
NM_001277115.2(DNAH11):c.3183C>T (p.Ser1061=)
|
rs528143053
|
0.00001
|
NM_001277115.2(DNAH11):c.321C>T (p.Ala107=)
|
rs1562648746
|
0.00001
|
NM_001277115.2(DNAH11):c.3256-12T>G
|
rs751950923
|
0.00001
|
NM_001277115.2(DNAH11):c.3291C>A (p.Ser1097Arg)
|
rs544553237
|
0.00001
|
NM_001277115.2(DNAH11):c.3333G>A (p.Val1111=)
|
rs1469670866
|
0.00001
|
NM_001277115.2(DNAH11):c.3456G>A (p.Glu1152=)
|
rs761664847
|
0.00001
|
NM_001277115.2(DNAH11):c.3465C>A (p.Ser1155=)
|
rs755144481
|
0.00001
|
NM_001277115.2(DNAH11):c.3535G>A (p.Val1179Ile)
|
rs201764507
|
0.00001
|
NM_001277115.2(DNAH11):c.3587C>T (p.Thr1196Met)
|
rs779537030
|
0.00001
|
NM_001277115.2(DNAH11):c.3648+11A>G
|
rs559120051
|
0.00001
|
NM_001277115.2(DNAH11):c.3649-20T>C
|
rs886038463
|
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.3708C>T (p.Val1236=)
|
rs746981588
|
0.00001
|
NM_001277115.2(DNAH11):c.3732C>T (p.Val1244=)
|
rs1018800661
|
0.00001
|
NM_001277115.2(DNAH11):c.3766-4T>G
|
rs775929199
|
0.00001
|
NM_001277115.2(DNAH11):c.3853-12T>A
|
rs727502966
|
0.00001
|
NM_001277115.2(DNAH11):c.4215C>T (p.Leu1405=)
|
rs886038465
|
0.00001
|
NM_001277115.2(DNAH11):c.4315A>G (p.Arg1439Gly)
|
rs1035326227
|
0.00001
|
NM_001277115.2(DNAH11):c.4334G>A (p.Arg1445Gln)
|
rs751896015
|
0.00001
|
NM_001277115.2(DNAH11):c.459G>A (p.Ala153=)
|
rs770376516
|
0.00001
|
NM_001277115.2(DNAH11):c.466C>G (p.Leu156Val)
|
rs10269832
|
0.00001
|
NM_001277115.2(DNAH11):c.4713T>C (p.Asp1571=)
|
rs72657324
|
0.00001
|
NM_001277115.2(DNAH11):c.4817+8T>A
|
rs1454994196
|
0.00001
|
NM_001277115.2(DNAH11):c.4935G>A (p.Gln1645=)
|
rs769779537
|
0.00001
|
NM_001277115.2(DNAH11):c.496-5T>C
|
rs375097413
|
0.00001
|
NM_001277115.2(DNAH11):c.5259T>C (p.Asp1753=)
|
rs765453467
|
0.00001
|
NM_001277115.2(DNAH11):c.5283G>C (p.Leu1761=)
|
rs1060504813
|
0.00001
|
NM_001277115.2(DNAH11):c.5328+14T>G
|
rs181945074
|
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.5396T>C (p.Ile1799Thr)
|
rs754635719
|
0.00001
|
NM_001277115.2(DNAH11):c.5475A>G (p.Gln1825=)
|
rs373354778
|
0.00001
|
NM_001277115.2(DNAH11):c.5734A>G (p.Met1912Val)
|
rs886038470
|
0.00001
|
NM_001277115.2(DNAH11):c.5779-17C>T
|
rs1040639068
|
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.6042-12T>C
|
rs764234591
|
0.00001
|
NM_001277115.2(DNAH11):c.6204T>C (p.Arg2068=)
|
rs749115429
|
0.00001
|
NM_001277115.2(DNAH11):c.6232G>A (p.Gly2078Arg)
|
rs776879195
|
0.00001
|
NM_001277115.2(DNAH11):c.636A>G (p.Leu212=)
|
rs765936290
|
0.00001
|
NM_001277115.2(DNAH11):c.6376G>A (p.Val2126Met)
|
rs772530809
|
0.00001
|
NM_001277115.2(DNAH11):c.6639C>G (p.Leu2213=)
|
rs753170391
|
0.00001
|
NM_001277115.2(DNAH11):c.6699T>C (p.Tyr2233=)
|
rs755580178
|
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.6855T>C (p.Asn2285=)
|
rs1784471077
|
0.00001
|
NM_001277115.2(DNAH11):c.6923C>T (p.Pro2308Leu)
|
rs376475480
|
0.00001
|
NM_001277115.2(DNAH11):c.7085G>C (p.Arg2362Thr)
|
rs761114761
|
0.00001
|
NM_001277115.2(DNAH11):c.7209A>G (p.Glu2403=)
|
rs1260213855
|
0.00001
|
NM_001277115.2(DNAH11):c.7225G>A (p.Ala2409Thr)
|
rs559451610
|
0.00001
|
NM_001277115.2(DNAH11):c.7271C>G (p.Ser2424Cys)
|
rs765054695
|
0.00001
|
NM_001277115.2(DNAH11):c.7377G>C (p.Lys2459Asn)
|
rs1060503059
|
0.00001
|
NM_001277115.2(DNAH11):c.7444G>A (p.Val2482Ile)
|
rs545144577
|
0.00001
|
NM_001277115.2(DNAH11):c.7513C>T (p.Pro2505Ser)
|
rs373938506
|
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.7725C>T (p.Ile2575=)
|
rs1203442273
|
0.00001
|
NM_001277115.2(DNAH11):c.7738A>T (p.Met2580Leu)
|
rs767617416
|
0.00001
|
NM_001277115.2(DNAH11):c.8040C>T (p.Pro2680=)
|
rs1292903570
|
0.00001
|
NM_001277115.2(DNAH11):c.8059A>G (p.Ile2687Val)
|
rs777290108
|
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.8155-9G>T
|
rs539005820
|
0.00001
|
NM_001277115.2(DNAH11):c.8228C>T (p.Ala2743Val)
|
rs755229531
|
0.00001
|
NM_001277115.2(DNAH11):c.8253A>G (p.Ile2751Met)
|
rs748860182
|
0.00001
|
NM_001277115.2(DNAH11):c.8345A>T (p.Gln2782Leu)
|
rs1420930266
|
0.00001
|
NM_001277115.2(DNAH11):c.8515C>T (p.Arg2839Cys)
|
rs770483579
|
0.00001
|
NM_001277115.2(DNAH11):c.8561T>C (p.Val2854Ala)
|
rs1397622591
|
0.00001
|
NM_001277115.2(DNAH11):c.8573G>A (p.Gly2858Asp)
|
rs757621175
|
0.00001
|
NM_001277115.2(DNAH11):c.8766C>T (p.Phe2922=)
|
rs752717335
|
0.00001
|
NM_001277115.2(DNAH11):c.891A>G (p.Ala297=)
|
rs201934527
|
0.00001
|
NM_001277115.2(DNAH11):c.8940+10A>C
|
rs1060504814
|
0.00001
|
NM_001277115.2(DNAH11):c.8991G>T (p.Arg2997=)
|
rs878854448
|
0.00001
|
NM_001277115.2(DNAH11):c.9102+7C>T
|
rs749697836
|
0.00001
|
NM_001277115.2(DNAH11):c.938G>T (p.Ser313Ile)
|
rs1388667729
|
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.948T>A (p.Pro316=)
|
rs776466911
|
0.00001
|
NM_001277115.2(DNAH11):c.9597+12T>G
|
rs1788091484
|
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.9733A>G (p.Met3245Val)
|
rs1307575374
|
0.00001
|
NM_001277115.2(DNAH11):c.982+12G>A
|
rs546259810
|
0.00001
|
NM_001277115.2(DNAH11):c.9838G>A (p.Glu3280Lys)
|
rs369078097
|
0.00001
|
NM_001277115.2(DNAH11):c.990C>T (p.Leu330=)
|
rs376448045
|
0.00001
|
NM_001277115.2(DNAH11):c.9950G>A (p.Arg3317His)
|
rs767303269
|
0.00001
|
NM_001364171.2(ODAD1):c.1240+11A>G
|
rs1968498982
|
0.00001
|
NM_001364171.2(ODAD1):c.1272C>T (p.Cys424=)
|
rs555664154
|
0.00001
|
NM_001364171.2(ODAD1):c.1404+9C>T
|
rs200795319
|
0.00001
|
NM_001364171.2(ODAD1):c.1530C>T (p.Ser510=)
|
rs768222015
|
0.00001
|
NM_001364171.2(ODAD1):c.1701C>T (p.Thr567=)
|
rs908877525
|
0.00001
|
NM_001364171.2(ODAD1):c.1905C>T (p.His635=)
|
rs758832949
|
0.00001
|
NM_001364171.2(ODAD1):c.2067C>T (p.Thr689=)
|
rs750363102
|
0.00001
|
NM_001364171.2(ODAD1):c.363C>A (p.Ile121=)
|
rs775672231
|
0.00001
|
NM_001364171.2(ODAD1):c.468A>G (p.Glu156=)
|
rs1213109136
|
0.00001
|
NM_001364171.2(ODAD1):c.565C>T (p.Arg189Cys)
|
rs538588580
|
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.657C>T (p.Tyr219=)
|
rs762832505
|
0.00001
|
NM_001364171.2(ODAD1):c.741G>A (p.Ala247=)
|
rs771518813
|
0.00001
|
NM_001364171.2(ODAD1):c.822T>C (p.Asp274=)
|
rs767173437
|
0.00001
|
NM_001364171.2(ODAD1):c.940C>T (p.Leu314=)
|
rs748033597
|
0.00001
|
NM_001369.3(DNAH5):c.10060T>C (p.Leu3354=)
|
rs1752467543
|
0.00001
|
NM_001369.3(DNAH5):c.10068G>A (p.Leu3356=)
|
rs769718739
|
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.1014T>G (p.Thr338=)
|
rs749523614
|
0.00001
|
NM_001369.3(DNAH5):c.10179C>T (p.Ile3393=)
|
rs768597241
|
0.00001
|
NM_001369.3(DNAH5):c.10185T>C (p.Thr3395=)
|
rs1169202727
|
0.00001
|
NM_001369.3(DNAH5):c.10260C>T (p.Asn3420=)
|
rs771824980
|
0.00001
|
NM_001369.3(DNAH5):c.10293G>T (p.Val3431=)
|
rs1224680596
|
0.00001
|
NM_001369.3(DNAH5):c.10314C>T (p.Leu3438=)
|
rs886376710
|
0.00001
|
NM_001369.3(DNAH5):c.10401G>A (p.Gln3467=)
|
rs373968571
|
0.00001
|
NM_001369.3(DNAH5):c.10419+8C>T
|
rs780730089
|
0.00001
|
NM_001369.3(DNAH5):c.10527G>A (p.Glu3509=)
|
rs373514903
|
0.00001
|
NM_001369.3(DNAH5):c.10611G>A (p.Glu3537=)
|
rs773264493
|
0.00001
|
NM_001369.3(DNAH5):c.10784C>T (p.Thr3595Met)
|
rs886043929
|
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.10877C>T (p.Thr3626Met)
|
rs376067762
|
0.00001
|
NM_001369.3(DNAH5):c.10878G>A (p.Thr3626=)
|
rs188428209
|
0.00001
|
NM_001369.3(DNAH5):c.10893G>A (p.Lys3631=)
|
rs749388508
|
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.10953T>C (p.Asp3651=)
|
rs1361071108
|
0.00001
|
NM_001369.3(DNAH5):c.10962G>A (p.Glu3654=)
|
rs1162082114
|
0.00001
|
NM_001369.3(DNAH5):c.10992G>A (p.Leu3664=)
|
rs766709160
|
0.00001
|
NM_001369.3(DNAH5):c.11029-6A>T
|
rs773606612
|
0.00001
|
NM_001369.3(DNAH5):c.1104T>C (p.Asp368=)
|
rs751526276
|
0.00001
|
NM_001369.3(DNAH5):c.11136C>T (p.Ser3712=)
|
rs1170163108
|
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.11212-20A>G
|
rs760815224
|
0.00001
|
NM_001369.3(DNAH5):c.11253T>C (p.Thr3751=)
|
rs1486092540
|
0.00001
|
NM_001369.3(DNAH5):c.11280A>G (p.Leu3760=)
|
rs772169912
|
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.11349C>T (p.Val3783=)
|
rs774415631
|
0.00001
|
NM_001369.3(DNAH5):c.11364A>G (p.Thr3788=)
|
rs756347790
|
0.00001
|
NM_001369.3(DNAH5):c.11385G>A (p.Val3795=)
|
rs921373580
|
0.00001
|
NM_001369.3(DNAH5):c.11463G>A (p.Thr3821=)
|
rs200744540
|
0.00001
|
NM_001369.3(DNAH5):c.1149C>A (p.Ile383=)
|
rs780992579
|
0.00001
|
NM_001369.3(DNAH5):c.11529G>A (p.Ser3843=)
|
rs1024441903
|
0.00001
|
NM_001369.3(DNAH5):c.11556C>T (p.Asp3852=)
|
rs745961446
|
0.00001
|
NM_001369.3(DNAH5):c.11570+9G>C
|
rs1206430080
|
0.00001
|
NM_001369.3(DNAH5):c.11571-6C>T
|
rs1179208296
|
0.00001
|
NM_001369.3(DNAH5):c.11619G>A (p.Glu3873=)
|
rs1389316634
|
0.00001
|
NM_001369.3(DNAH5):c.11631C>T (p.Tyr3877=)
|
rs776957889
|
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.11694G>T (p.Leu3898Phe)
|
rs200798994
|
0.00001
|
NM_001369.3(DNAH5):c.1197+9A>G
|
rs766378867
|
0.00001
|
NM_001369.3(DNAH5):c.1198-14T>C
|
rs376742406
|
0.00001
|
NM_001369.3(DNAH5):c.12034-6T>C
|
rs369614763
|
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.12250C>T (p.Arg4084Trp)
|
rs752895938
|
0.00001
|
NM_001369.3(DNAH5):c.12258C>G (p.Leu4086=)
|
rs746003819
|
0.00001
|
NM_001369.3(DNAH5):c.12285A>T (p.Gly4095=)
|
rs774115728
|
0.00001
|
NM_001369.3(DNAH5):c.12396C>T (p.Thr4132=)
|
rs776715085
|
0.00001
|
NM_001369.3(DNAH5):c.123T>C (p.Phe41=)
|
rs1361525513
|
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.12453C>T (p.Asn4151=)
|
rs764777394
|
0.00001
|
NM_001369.3(DNAH5):c.12596G>A (p.Arg4199His)
|
rs375694023
|
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.12682T>C (p.Leu4228=)
|
rs772505955
|
0.00001
|
NM_001369.3(DNAH5):c.12705+8C>T
|
rs897423035
|
0.00001
|
NM_001369.3(DNAH5):c.12738A>C (p.Ile4246=)
|
rs763332586
|
0.00001
|
NM_001369.3(DNAH5):c.12771C>T (p.Asp4257=)
|
rs200349959
|
0.00001
|
NM_001369.3(DNAH5):c.12798A>G (p.Thr4266=)
|
rs756952171
|
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.12900G>A (p.Gln4300=)
|
rs1313735230
|
0.00001
|
NM_001369.3(DNAH5):c.12910-14T>C
|
rs752241896
|
0.00001
|
NM_001369.3(DNAH5):c.12937G>C (p.Val4313Leu)
|
rs769666008
|
0.00001
|
NM_001369.3(DNAH5):c.12984G>A (p.Leu4328=)
|
rs1236779417
|
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.1305G>A (p.Ala435=)
|
rs766746657
|
0.00001
|
NM_001369.3(DNAH5):c.13077G>A (p.Leu4359=)
|
rs148805204
|
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.1321-4T>G
|
rs1042276563
|
0.00001
|
NM_001369.3(DNAH5):c.13215C>T (p.Ser4405=)
|
rs1406880003
|
0.00001
|
NM_001369.3(DNAH5):c.13263C>T (p.Thr4421=)
|
rs765849507
|
0.00001
|
NM_001369.3(DNAH5):c.13339-4G>T
|
rs748821124
|
0.00001
|
NM_001369.3(DNAH5):c.13339-8C>A
|
rs1326641469
|
0.00001
|
NM_001369.3(DNAH5):c.13404T>C (p.Phe4468=)
|
rs891146458
|
0.00001
|
NM_001369.3(DNAH5):c.13416T>G (p.Val4472=)
|
rs1350299720
|
0.00001
|
NM_001369.3(DNAH5):c.13492-5A>C
|
rs770033667
|
0.00001
|
NM_001369.3(DNAH5):c.13503G>A (p.Arg4501=)
|
rs1294086240
|
0.00001
|
NM_001369.3(DNAH5):c.13530T>C (p.Asn4510=)
|
rs563536491
|
0.00001
|
NM_001369.3(DNAH5):c.13596T>A (p.Gly4532=)
|
rs763033794
|
0.00001
|
NM_001369.3(DNAH5):c.13626T>A (p.Gly4542=)
|
rs1239513732
|
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.13719C>T (p.Asn4573=)
|
rs747291233
|
0.00001
|
NM_001369.3(DNAH5):c.1371A>G (p.Pro457=)
|
rs750936789
|
0.00001
|
NM_001369.3(DNAH5):c.13724-7T>G
|
rs775698729
|
0.00001
|
NM_001369.3(DNAH5):c.13779G>A (p.Thr4593=)
|
rs200555581
|
0.00001
|
NM_001369.3(DNAH5):c.13798G>A (p.Ala4600Thr)
|
rs774279588
|
0.00001
|
NM_001369.3(DNAH5):c.13827T>C (p.Pro4609=)
|
rs748494424
|
0.00001
|
NM_001369.3(DNAH5):c.1396G>A (p.Glu466Lys)
|
rs377439232
|
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.1473G>A (p.Lys491=)
|
rs142684499
|
0.00001
|
NM_001369.3(DNAH5):c.1536+8A>G
|
rs1580862932
|
0.00001
|
NM_001369.3(DNAH5):c.1575C>T (p.Phe525=)
|
rs755393698
|
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.1644+10A>G
|
rs756933903
|
0.00001
|
NM_001369.3(DNAH5):c.1655G>A (p.Arg552Gln)
|
rs943862890
|
0.00001
|
NM_001369.3(DNAH5):c.1701A>G (p.Gln567=)
|
rs1334055620
|
0.00001
|
NM_001369.3(DNAH5):c.1731-12T>A
|
rs758106572
|
0.00001
|
NM_001369.3(DNAH5):c.1770A>G (p.Gln590=)
|
rs775939948
|
0.00001
|
NM_001369.3(DNAH5):c.1837G>A (p.Asp613Asn)
|
rs141072655
|
0.00001
|
NM_001369.3(DNAH5):c.1904A>G (p.His635Arg)
|
rs564653952
|
0.00001
|
NM_001369.3(DNAH5):c.193-6T>G
|
rs762313659
|
0.00001
|
NM_001369.3(DNAH5):c.2010C>G (p.Leu670=)
|
rs1279805559
|
0.00001
|
NM_001369.3(DNAH5):c.2028C>T (p.Leu676=)
|
rs1358924801
|
0.00001
|
NM_001369.3(DNAH5):c.2052+7C>T
|
rs748368893
|
0.00001
|
NM_001369.3(DNAH5):c.2247C>T (p.Phe749=)
|
rs1774417172
|
0.00001
|
NM_001369.3(DNAH5):c.2259+8A>G
|
rs202137813
|
0.00001
|
NM_001369.3(DNAH5):c.2260-8C>T
|
rs1279714167
|
0.00001
|
NM_001369.3(DNAH5):c.2331C>T (p.His777=)
|
rs1275041810
|
0.00001
|
NM_001369.3(DNAH5):c.2481C>T (p.Arg827=)
|
rs777353326
|
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.2514G>A (p.Thr838=)
|
rs1403119826
|
0.00001
|
NM_001369.3(DNAH5):c.2556A>G (p.Glu852=)
|
rs1460367490
|
0.00001
|
NM_001369.3(DNAH5):c.257A>G (p.Asp86Gly)
|
rs147441805
|
0.00001
|
NM_001369.3(DNAH5):c.2706C>T (p.Ser902=)
|
rs778689338
|
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.2796G>A (p.Arg932=)
|
rs374394989
|
0.00001
|
NM_001369.3(DNAH5):c.2799C>A (p.Ala933=)
|
rs770888912
|
0.00001
|
NM_001369.3(DNAH5):c.2919T>C (p.Val973=)
|
rs563800936
|
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.2997C>G (p.Ala999=)
|
rs760587023
|
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.3040G>A (p.Val1014Ile)
|
rs778469881
|
0.00001
|
NM_001369.3(DNAH5):c.3063C>T (p.Ile1021=)
|
rs555934422
|
0.00001
|
NM_001369.3(DNAH5):c.3072C>T (p.Ala1024=)
|
rs759791781
|
0.00001
|
NM_001369.3(DNAH5):c.3084A>G (p.Glu1028=)
|
rs766451124
|
0.00001
|
NM_001369.3(DNAH5):c.3132C>G (p.Val1044=)
|
rs372098767
|
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.3263-5T>C
|
rs777699795
|
0.00001
|
NM_001369.3(DNAH5):c.3357A>G (p.Leu1119=)
|
rs780565363
|
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.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.348C>T (p.Thr116=)
|
rs775947029
|
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.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.3696T>C (p.Ile1232=)
|
rs1392338764
|
0.00001
|
NM_001369.3(DNAH5):c.3747C>T (p.Asp1249=)
|
rs1280894186
|
0.00001
|
NM_001369.3(DNAH5):c.3783A>G (p.Lys1261=)
|
rs1171456052
|
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.3861T>C (p.Tyr1287=)
|
rs764026489
|
0.00001
|
NM_001369.3(DNAH5):c.3906G>A (p.Leu1302=)
|
rs756702210
|
0.00001
|
NM_001369.3(DNAH5):c.3939T>C (p.Ala1313=)
|
rs1769511468
|
0.00001
|
NM_001369.3(DNAH5):c.3967C>T (p.Leu1323=)
|
rs767280037
|
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.4054-4T>C
|
rs200608915
|
0.00001
|
NM_001369.3(DNAH5):c.4083C>T (p.Pro1361=)
|
rs149691390
|
0.00001
|
NM_001369.3(DNAH5):c.4116+15T>C
|
rs201947846
|
0.00001
|
NM_001369.3(DNAH5):c.4117-8T>C
|
rs754469218
|
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.4329C>T (p.Asn1443=)
|
rs750736449
|
0.00001
|
NM_001369.3(DNAH5):c.4355+20G>C
|
rs1769136200
|
0.00001
|
NM_001369.3(DNAH5):c.4377C>T (p.Ala1459=)
|
rs1247715056
|
0.00001
|
NM_001369.3(DNAH5):c.438+8G>A
|
rs950201438
|
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.4434G>A (p.Glu1478=)
|
rs764614084
|
0.00001
|
NM_001369.3(DNAH5):c.4539C>T (p.Ser1513=)
|
rs764718901
|
0.00001
|
NM_001369.3(DNAH5):c.4716C>T (p.Leu1572=)
|
rs747337013
|
0.00001
|
NM_001369.3(DNAH5):c.4737G>A (p.Ser1579=)
|
rs938971019
|
0.00001
|
NM_001369.3(DNAH5):c.4855A>G (p.Thr1619Ala)
|
rs80164898
|
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.4959G>A (p.Lys1653=)
|
rs1207203971
|
0.00001
|
NM_001369.3(DNAH5):c.5003G>A (p.Arg1668Gln)
|
rs867205765
|
0.00001
|
NM_001369.3(DNAH5):c.5073C>T (p.His1691=)
|
rs1766711145
|
0.00001
|
NM_001369.3(DNAH5):c.5158G>A (p.Val1720Ile)
|
rs778341195
|
0.00001
|
NM_001369.3(DNAH5):c.5178A>G (p.Leu1726=)
|
rs765172494
|
0.00001
|
NM_001369.3(DNAH5):c.5199G>A (p.Ser1733=)
|
rs142806046
|
0.00001
|
NM_001369.3(DNAH5):c.5226G>A (p.Leu1742=)
|
rs749878110
|
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.5536C>G (p.Leu1846Val)
|
rs1311080684
|
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.5563A>G (p.Ile1855Val)
|
rs1259929811
|
0.00001
|
NM_001369.3(DNAH5):c.5565C>A (p.Ile1855=)
|
rs781725837
|
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.57+14G>T
|
rs756464306
|
0.00001
|
NM_001369.3(DNAH5):c.5703T>C (p.Asp1901=)
|
rs761979042
|
0.00001
|
NM_001369.3(DNAH5):c.5710-11T>C
|
rs750184432
|
0.00001
|
NM_001369.3(DNAH5):c.5710-9G>A
|
rs1425299935
|
0.00001
|
NM_001369.3(DNAH5):c.5760C>T (p.Cys1920=)
|
rs1764867511
|
0.00001
|
NM_001369.3(DNAH5):c.5802C>T (p.His1934=)
|
rs754458099
|
0.00001
|
NM_001369.3(DNAH5):c.5883-6A>G
|
rs763588282
|
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.6000C>T (p.Tyr2000=)
|
rs773208371
|
0.00001
|
NM_001369.3(DNAH5):c.6003C>T (p.Val2001=)
|
rs372754085
|
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.6162A>C (p.Thr2054=)
|
rs913362638
|
0.00001
|
NM_001369.3(DNAH5):c.6183G>A (p.Lys2061=)
|
rs1763433728
|
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.6250-6G>C
|
rs763560081
|
0.00001
|
NM_001369.3(DNAH5):c.6268C>T (p.Arg2090Trp)
|
rs774191944
|
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.6444+7C>T
|
rs1219427450
|
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.6498A>G (p.Gly2166=)
|
rs764201218
|
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.6579+6dup
|
rs1259303216
|
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.6678T>C (p.Ile2226=)
|
rs1310698723
|
0.00001
|
NM_001369.3(DNAH5):c.6681T>C (p.Ser2227=)
|
rs1355806912
|
0.00001
|
NM_001369.3(DNAH5):c.6753G>A (p.Thr2251=)
|
rs571519805
|
0.00001
|
NM_001369.3(DNAH5):c.6786G>T (p.Gly2262=)
|
rs749772293
|
0.00001
|
NM_001369.3(DNAH5):c.6789C>A (p.Pro2263=)
|
rs756464064
|
0.00001
|
NM_001369.3(DNAH5):c.6798T>C (p.Ala2266=)
|
rs1199084520
|
0.00001
|
NM_001369.3(DNAH5):c.6841+7G>T
|
rs760366983
|
0.00001
|
NM_001369.3(DNAH5):c.691C>T (p.Leu231=)
|
rs1424520916
|
0.00001
|
NM_001369.3(DNAH5):c.7086C>T (p.Ala2362=)
|
rs566336932
|
0.00001
|
NM_001369.3(DNAH5):c.7092T>C (p.Gly2364=)
|
rs774617981
|
0.00001
|
NM_001369.3(DNAH5):c.710C>T (p.Pro237Leu)
|
rs757970855
|
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.7161T>C (p.Pro2387=)
|
rs781701462
|
0.00001
|
NM_001369.3(DNAH5):c.7182A>C (p.Gly2394=)
|
rs761385629
|
0.00001
|
NM_001369.3(DNAH5):c.7230+7T>C
|
rs759406251
|
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.7407+10T>C
|
rs1413734781
|
0.00001
|
NM_001369.3(DNAH5):c.7408-14T>C
|
rs1454703878
|
0.00001
|
NM_001369.3(DNAH5):c.7408-17G>A
|
rs1446765769
|
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.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.7497C>T (p.Asp2499=)
|
rs891659169
|
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.7532G>C (p.Arg2511Pro)
|
rs1391746135
|
0.00001
|
NM_001369.3(DNAH5):c.7539A>G (p.Thr2513=)
|
rs760847732
|
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.7569G>A (p.Gly2523=)
|
rs986872979
|
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.7610-8C>T
|
rs748798656
|
0.00001
|
NM_001369.3(DNAH5):c.7632G>A (p.Thr2544=)
|
rs574355717
|
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.7767T>C (p.Ile2589=)
|
rs772272015
|
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.7888-10T>G
|
rs1402791029
|
0.00001
|
NM_001369.3(DNAH5):c.7888-5C>A
|
rs760613466
|
0.00001
|
NM_001369.3(DNAH5):c.7924A>G (p.Thr2642Ala)
|
rs375094026
|
0.00001
|
NM_001369.3(DNAH5):c.792A>G (p.Thr264=)
|
rs1358293206
|
0.00001
|
NM_001369.3(DNAH5):c.799-11C>T
|
rs371868451
|
0.00001
|
NM_001369.3(DNAH5):c.799-8A>G
|
rs765624151
|
0.00001
|
NM_001369.3(DNAH5):c.8016G>A (p.Thr2672=)
|
rs112594597
|
0.00001
|
NM_001369.3(DNAH5):c.8043A>G (p.Glu2681=)
|
rs1468245529
|
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.831A>G (p.Glu277=)
|
rs1481782747
|
0.00001
|
NM_001369.3(DNAH5):c.834G>A (p.Ala278=)
|
rs761192750
|
0.00001
|
NM_001369.3(DNAH5):c.8382A>G (p.Leu2794=)
|
rs371252551
|
0.00001
|
NM_001369.3(DNAH5):c.8418C>T (p.Asn2806=)
|
rs769684045
|
0.00001
|
NM_001369.3(DNAH5):c.846G>A (p.Gly282=)
|
rs748702437
|
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.855G>A (p.Ala285=)
|
rs931507563
|
0.00001
|
NM_001369.3(DNAH5):c.8647+9T>C
|
rs750094609
|
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.8697A>G (p.Pro2899=)
|
rs1376774959
|
0.00001
|
NM_001369.3(DNAH5):c.8703A>G (p.Glu2901=)
|
rs1452715362
|
0.00001
|
NM_001369.3(DNAH5):c.8718A>G (p.Leu2906=)
|
rs756991846
|
0.00001
|
NM_001369.3(DNAH5):c.8769C>T (p.Gly2923=)
|
rs546765121
|
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.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.8949G>A (p.Thr2983=)
|
rs1006363674
|
0.00001
|
NM_001369.3(DNAH5):c.8991T>G (p.Val2997=)
|
rs776985428
|
0.00001
|
NM_001369.3(DNAH5):c.9012G>A (p.Gln3004=)
|
rs1236100758
|
0.00001
|
NM_001369.3(DNAH5):c.9088G>C (p.Val3030Leu)
|
rs772987380
|
0.00001
|
NM_001369.3(DNAH5):c.910T>C (p.Leu304=)
|
rs754396098
|
0.00001
|
NM_001369.3(DNAH5):c.9213C>T (p.His3071=)
|
rs563907105
|
0.00001
|
NM_001369.3(DNAH5):c.9347G>A (p.Arg3116Gln)
|
rs745557874
|
0.00001
|
NM_001369.3(DNAH5):c.9373+10G>T
|
rs555164140
|
0.00001
|
NM_001369.3(DNAH5):c.9374-5T>C
|
rs936631893
|
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.950C>T (p.Ala317Val)
|
rs199691556
|
0.00001
|
NM_001369.3(DNAH5):c.9579T>C (p.His3193=)
|
rs139606604
|
0.00001
|
NM_001369.3(DNAH5):c.9589C>T (p.Arg3197Trp)
|
rs753913853
|
0.00001
|
NM_001369.3(DNAH5):c.9605+7G>A
|
rs1433603838
|
0.00001
|
NM_001369.3(DNAH5):c.9630C>G (p.Leu3210=)
|
rs910986442
|
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.9678G>A (p.Ala3226=)
|
rs547729937
|
0.00001
|
NM_001369.3(DNAH5):c.975+9C>T
|
rs756706408
|
0.00001
|
NM_001369.3(DNAH5):c.976-9T>C
|
rs1409204466
|
0.00001
|
NM_001369.3(DNAH5):c.9825A>G (p.Lys3275=)
|
rs1580139912
|
0.00001
|
NM_001369.3(DNAH5):c.9891A>G (p.Ala3297=)
|
rs863224387
|
0.00001
|
NM_001369.3(DNAH5):c.9897+9A>G
|
rs774932799
|
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.9984G>T (p.Leu3328=)
|
rs770559422
|
0.00001
|
NM_001369.3(DNAH5):c.9987G>A (p.Leu3329=)
|
rs372955295
|
0.00001
|
NM_001369.3(DNAH5):c.9999A>G (p.Lys3333=)
|
rs1038607014
|
0.00001
|
NM_012144.4(DNAI1):c.1020-14A>T
|
rs777973486
|
0.00001
|
NM_012144.4(DNAI1):c.1064-4G>A
|
rs1254460885
|
0.00001
|
NM_012144.4(DNAI1):c.108A>G (p.Gly36=)
|
rs774972481
|
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.1221C>T (p.Asn407=)
|
rs1368857115
|
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.1312-4T>G
|
rs751375253
|
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.1395C>T (p.Leu465=)
|
rs764446899
|
0.00001
|
NM_012144.4(DNAI1):c.1402-4A>G
|
rs761735222
|
0.00001
|
NM_012144.4(DNAI1):c.1410G>A (p.Leu470=)
|
rs374506251
|
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.1470G>T (p.Gly490=)
|
rs888186483
|
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.1551G>A (p.Glu517=)
|
rs751010917
|
0.00001
|
NM_012144.4(DNAI1):c.1569+10C>T
|
rs1168786289
|
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.1614C>A (p.Ala538=)
|
rs1201989652
|
0.00001
|
NM_012144.4(DNAI1):c.1638G>A (p.Val546=)
|
rs1825132822
|
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.1692A>G (p.Thr564=)
|
rs778444720
|
0.00001
|
NM_012144.4(DNAI1):c.169T>C (p.Leu57=)
|
rs779175158
|
0.00001
|
NM_012144.4(DNAI1):c.1713C>T (p.Thr571=)
|
rs770312736
|
0.00001
|
NM_012144.4(DNAI1):c.1719-11C>T
|
rs774758389
|
0.00001
|
NM_012144.4(DNAI1):c.1725G>A (p.Pro575=)
|
rs772459151
|
0.00001
|
NM_012144.4(DNAI1):c.1752C>T (p.Ala584=)
|
rs374753474
|
0.00001
|
NM_012144.4(DNAI1):c.1794C>T (p.Phe598=)
|
rs201746512
|
0.00001
|
NM_012144.4(DNAI1):c.1890C>T (p.Asn630=)
|
rs767207402
|
0.00001
|
NM_012144.4(DNAI1):c.1911C>T (p.Phe637=)
|
rs1825189433
|
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.2002-6C>T
|
rs1174622504
|
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.2028G>A (p.Lys676=)
|
rs1377892484
|
0.00001
|
NM_012144.4(DNAI1):c.2073G>A (p.Leu691=)
|
rs780268562
|
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.372C>T (p.Arg124=)
|
rs765026554
|
0.00001
|
NM_012144.4(DNAI1):c.389-15C>T
|
rs886063881
|
0.00001
|
NM_012144.4(DNAI1):c.389-7T>C
|
rs1824553084
|
0.00001
|
NM_012144.4(DNAI1):c.48+9C>G
|
rs746021545
|
0.00001
|
NM_012144.4(DNAI1):c.501+16G>A
|
rs373496626
|
0.00001
|
NM_012144.4(DNAI1):c.591G>A (p.Arg197=)
|
rs775975599
|
0.00001
|
NM_012144.4(DNAI1):c.622-6C>T
|
rs1416045438
|
0.00001
|
NM_012144.4(DNAI1):c.636G>A (p.Gln212=)
|
rs758269785
|
0.00001
|
NM_012144.4(DNAI1):c.681+7C>A
|
rs200424920
|
0.00001
|
NM_012144.4(DNAI1):c.682-12A>G
|
rs755730248
|
0.00001
|
NM_012144.4(DNAI1):c.708G>A (p.Glu236=)
|
rs765581497
|
0.00001
|
NM_012144.4(DNAI1):c.81+17_81+18dup
|
rs779274308
|
0.00001
|
NM_012144.4(DNAI1):c.810G>A (p.Glu270=)
|
rs200945732
|
0.00001
|
NM_012144.4(DNAI1):c.902-8T>C
|
rs755259202
|
0.00001
|
NM_012472.6(DNAAF11):c.645T>C (p.Asn215=)
|
rs774194116
|
0.00001
|
NM_015896.4(ZMYND10):c.1000-20T>C
|
rs1050210196
|
0.00001
|
NM_015896.4(ZMYND10):c.1086C>T (p.Ser362=)
|
rs1158414983
|
0.00001
|
NM_015896.4(ZMYND10):c.1140G>A (p.Arg380=)
|
rs755542699
|
0.00001
|
NM_015896.4(ZMYND10):c.120G>A (p.Glu40=)
|
rs779433836
|
0.00001
|
NM_015896.4(ZMYND10):c.1317C>T (p.Ala439=)
|
rs762811169
|
0.00001
|
NM_015896.4(ZMYND10):c.202-16A>T
|
rs901861503
|
0.00001
|
NM_015896.4(ZMYND10):c.319-9A>G
|
rs369890206
|
0.00001
|
NM_015896.4(ZMYND10):c.708G>A (p.Leu236=)
|
rs1387734363
|
0.00001
|
NM_015896.4(ZMYND10):c.993G>A (p.Leu331=)
|
rs1575553171
|
0.00001
|
NM_016616.5(NME8):c.171C>T (p.Asn57=)
|
rs180763598
|
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.1128A>C (p.Arg376=)
|
rs753803162
|
0.00001
|
NM_017802.4(DNAAF5):c.1179C>T (p.His393=)
|
rs537994269
|
0.00001
|
NM_017802.4(DNAAF5):c.1374C>T (p.Ser458=)
|
rs150926878
|
0.00001
|
NM_017802.4(DNAAF5):c.1471-14C>G
|
rs765928517
|
0.00001
|
NM_017802.4(DNAAF5):c.1599C>T (p.Thr533=)
|
rs771906023
|
0.00001
|
NM_017802.4(DNAAF5):c.1743G>A (p.Ser581=)
|
rs1232523161
|
0.00001
|
NM_017802.4(DNAAF5):c.1797A>T (p.Gly599=)
|
rs376945935
|
0.00001
|
NM_017802.4(DNAAF5):c.2511G>A (p.Ser837=)
|
rs143524894
|
0.00001
|
NM_017802.4(DNAAF5):c.324G>C (p.Ala108=)
|
rs1241458505
|
0.00001
|
NM_017802.4(DNAAF5):c.421C>T (p.Leu141=)
|
rs1583468117
|
0.00001
|
NM_017802.4(DNAAF5):c.474C>T (p.Ala158=)
|
rs909306243
|
0.00001
|
NM_017802.4(DNAAF5):c.781-8A>G
|
rs570735854
|
0.00001
|
NM_017802.4(DNAAF5):c.781-9C>T
|
rs899682066
|
0.00001
|
NM_017802.4(DNAAF5):c.905+18C>T
|
rs772079587
|
0.00001
|
NM_017950.4(CCDC40):c.1160-9G>A
|
rs779328167
|
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.1413C>A (p.Thr471=)
|
rs2037824553
|
0.00001
|
NM_017950.4(CCDC40):c.1509G>C (p.Leu503=)
|
rs200124291
|
0.00001
|
NM_017950.4(CCDC40):c.1512G>A (p.Val504=)
|
rs1312465619
|
0.00001
|
NM_017950.4(CCDC40):c.1593C>T (p.Asp531=)
|
rs746661400
|
0.00001
|
NM_017950.4(CCDC40):c.168C>T (p.Val56=)
|
rs770942016
|
0.00001
|
NM_017950.4(CCDC40):c.1884G>A (p.Thr628=)
|
rs748572237
|
0.00001
|
NM_017950.4(CCDC40):c.2118C>T (p.Asn706=)
|
rs773715618
|
0.00001
|
NM_017950.4(CCDC40):c.2124C>T (p.Leu708=)
|
rs1598538668
|
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.258T>C (p.Tyr86=)
|
rs745925890
|
0.00001
|
NM_017950.4(CCDC40):c.2798T>G (p.Ile933Ser)
|
rs564504598
|
0.00001
|
NM_017950.4(CCDC40):c.29+8G>A
|
rs772706089
|
0.00001
|
NM_017950.4(CCDC40):c.2955G>A (p.Ala985=)
|
rs201511980
|
0.00001
|
NM_017950.4(CCDC40):c.3147C>T (p.Ala1049=)
|
rs1028095921
|
0.00001
|
NM_017950.4(CCDC40):c.315G>A (p.Gly105=)
|
rs1398449246
|
0.00001
|
NM_017950.4(CCDC40):c.3180+7G>A
|
rs764901506
|
0.00001
|
NM_017950.4(CCDC40):c.3216T>G (p.Leu1072=)
|
rs758698381
|
0.00001
|
NM_017950.4(CCDC40):c.3245G>A (p.Arg1082His)
|
rs773033304
|
0.00001
|
NM_017950.4(CCDC40):c.624C>T (p.His208=)
|
rs370581662
|
0.00001
|
NM_017950.4(CCDC40):c.627G>C (p.Gly209=)
|
rs758242176
|
0.00001
|
NM_017950.4(CCDC40):c.708C>T (p.Pro236=)
|
rs769809719
|
0.00001
|
NM_017950.4(CCDC40):c.780G>A (p.Glu260=)
|
rs893159224
|
0.00001
|
NM_017950.4(CCDC40):c.804C>T (p.Asp268=)
|
rs756325484
|
0.00001
|
NM_017950.4(CCDC40):c.939+11G>A
|
rs754748154
|
0.00001
|
NM_018076.5(ODAD2):c.1248T>G (p.Ala416=)
|
rs75389371
|
0.00001
|
NM_018139.3(DNAAF2):c.1065G>A (p.Arg355=)
|
rs1227325360
|
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.1467T>C (p.Asp489=)
|
rs201056459
|
0.00001
|
NM_018139.3(DNAAF2):c.1606C>T (p.Leu536=)
|
rs1289754130
|
0.00001
|
NM_018139.3(DNAAF2):c.20C>T (p.Ser7Phe)
|
rs577796590
|
0.00001
|
NM_018139.3(DNAAF2):c.2106C>T (p.Asn702=)
|
rs1555327430
|
0.00001
|
NM_018139.3(DNAAF2):c.2139A>C (p.Ala713=)
|
rs997727890
|
0.00001
|
NM_018139.3(DNAAF2):c.2205T>A (p.Val735=)
|
rs750136915
|
0.00001
|
NM_018139.3(DNAAF2):c.2505T>C (p.Asp835=)
|
rs1229371492
|
0.00001
|
NM_018139.3(DNAAF2):c.471C>T (p.His157=)
|
rs886050528
|
0.00001
|
NM_018139.3(DNAAF2):c.693G>A (p.Pro231=)
|
rs764901505
|
0.00001
|
NM_021147.5(CCNO):c.156G>A (p.Pro52=)
|
rs1359521554
|
0.00001
|
NM_021147.5(CCNO):c.183C>T (p.Phe61=)
|
rs760832879
|
0.00001
|
NM_021147.5(CCNO):c.30G>A (p.Ser10=)
|
rs771067579
|
0.00001
|
NM_021147.5(CCNO):c.567+9G>A
|
rs926256890
|
0.00001
|
NM_023036.6(DNAI2):c.1017G>A (p.Gln339=)
|
rs191031963
|
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.1212-10C>T
|
rs372522923
|
0.00001
|
NM_023036.6(DNAI2):c.1326C>T (p.Cys442=)
|
rs537816710
|
0.00001
|
NM_023036.6(DNAI2):c.1368C>T (p.Phe456=)
|
rs773370913
|
0.00001
|
NM_023036.6(DNAI2):c.1482C>T (p.Asn494=)
|
rs1441537699
|
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.1650G>A (p.Glu550=)
|
rs760520336
|
0.00001
|
NM_023036.6(DNAI2):c.1758G>A (p.Glu586=)
|
rs375973900
|
0.00001
|
NM_023036.6(DNAI2):c.252C>T (p.Asp84=)
|
rs778114743
|
0.00001
|
NM_023036.6(DNAI2):c.270G>A (p.Leu90=)
|
rs1002722809
|
0.00001
|
NM_023036.6(DNAI2):c.318C>T (p.Tyr106=)
|
rs764812763
|
0.00001
|
NM_023036.6(DNAI2):c.346-4C>T
|
rs1385898478
|
0.00001
|
NM_023036.6(DNAI2):c.378C>T (p.Ala126=)
|
rs1490406659
|
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.468-8C>T
|
rs1598289254
|
0.00001
|
NM_023036.6(DNAI2):c.498A>G (p.Thr166=)
|
rs1214535826
|
0.00001
|
NM_023036.6(DNAI2):c.516C>T (p.Pro172=)
|
rs561911124
|
0.00001
|
NM_023036.6(DNAI2):c.57T>C (p.Asn19=)
|
rs746568626
|
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.720G>A (p.Gln240=)
|
rs755223435
|
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.741A>G (p.Arg247=)
|
rs1464997999
|
0.00001
|
NM_023036.6(DNAI2):c.75C>G (p.Ala25=)
|
rs749172812
|
0.00001
|
NM_023036.6(DNAI2):c.849T>C (p.Ala283=)
|
rs531514142
|
0.00001
|
NM_023036.6(DNAI2):c.900C>T (p.Pro300=)
|
rs752020598
|
0.00001
|
NM_023036.6(DNAI2):c.975C>T (p.Phe325=)
|
rs1217838487
|
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.531T>C (p.Asp177=)
|
rs755284624
|
0.00001
|
NM_080860.4(RSPH1):c.60T>C (p.Tyr20=)
|
rs762144549
|
0.00001
|
NM_080860.4(RSPH1):c.636C>T (p.Thr212=)
|
rs765328542
|
0.00001
|
NM_080860.4(RSPH1):c.741C>T (p.Pro247=)
|
rs142166675
|
0.00001
|
NM_080860.4(RSPH1):c.877+13C>T
|
rs747107857
|
0.00001
|
NM_145038.5(DRC1):c.1919+10G>A
|
rs775449578
|
0.00001
|
NM_145038.5(DRC1):c.2058G>A (p.Lys686=)
|
rs1386352972
|
0.00001
|
NM_145038.5(DRC1):c.2064-8G>A
|
rs1012672985
|
0.00001
|
NM_145038.5(DRC1):c.2069T>C (p.Val690Ala)
|
rs199858918
|
0.00001
|
NM_145038.5(DRC1):c.356+8C>T
|
rs749365742
|
0.00001
|
NM_145038.5(DRC1):c.501C>T (p.Leu167=)
|
rs778849420
|
0.00001
|
NM_145038.5(DRC1):c.684A>G (p.Ala228=)
|
rs751246954
|
0.00001
|
NM_145038.5(DRC1):c.843C>T (p.Cys281=)
|
rs371207623
|
0.00001
|
NM_145038.5(DRC1):c.972G>A (p.Lys324=)
|
rs1663689812
|
0.00001
|
NM_152732.5(RSPH9):c.671-5C>T
|
rs760442254
|
0.00001
|
NM_178452.6(DNAAF1):c.120G>A (p.Lys40=)
|
rs766876325
|
0.00001
|
NM_178452.6(DNAAF1):c.1275A>G (p.Ser425=)
|
rs1325549762
|
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.1953C>T (p.Ser651=)
|
rs766434597
|
0.00001
|
NM_178452.6(DNAAF1):c.2070G>A (p.Pro690=)
|
rs772036783
|
0.00001
|
NM_178452.6(DNAAF1):c.588C>T (p.Val196=)
|
rs1351387084
|
0.00001
|
NM_178452.6(DNAAF1):c.705G>A (p.Pro235=)
|
rs759831401
|
0.00001
|
NM_178452.6(DNAAF1):c.864-12T>C
|
rs375232772
|
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.1239A>G (p.Thr413=)
|
rs373094293
|
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.1848T>C (p.Tyr616=)
|
rs774871939
|
0.00001
|
NM_181426.2(CCDC39):c.1935G>T (p.Leu645=)
|
rs1030308648
|
0.00001
|
NM_181426.2(CCDC39):c.1998+14del
|
rs779120394
|
0.00001
|
NM_181426.2(CCDC39):c.2079C>T (p.Tyr693=)
|
rs376782159
|
0.00001
|
NM_181426.2(CCDC39):c.211-13T>G
|
rs991528026
|
0.00001
|
NM_181426.2(CCDC39):c.219C>T (p.Cys73=)
|
rs766631443
|
0.00001
|
NM_181426.2(CCDC39):c.2280A>G (p.Thr760=)
|
rs886038749
|
0.00001
|
NM_181426.2(CCDC39):c.2349T>C (p.Phe783=)
|
rs747568407
|
0.00001
|
NM_181426.2(CCDC39):c.2367G>A (p.Thr789=)
|
rs201806641
|
0.00001
|
NM_181426.2(CCDC39):c.2565C>A (p.Ile855=)
|
rs780932724
|
0.00001
|
NM_181426.2(CCDC39):c.2823A>G (p.Lys941=)
|
rs751844801
|
0.00001
|
NM_181426.2(CCDC39):c.531A>G (p.Gln177=)
|
rs779897284
|
0.00001
|
NM_181426.2(CCDC39):c.818T>C (p.Ile273Thr)
|
rs201125479
|
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_213607.3(CCDC103):c.348G>C (p.Gly116=)
|
rs575078578
|
0.00001
|
NM_213607.3(CCDC103):c.439C>T (p.Leu147=)
|
rs1178106681
|
0.00001
|
NM_213607.3(CCDC103):c.501A>G (p.Leu167=)
|
rs374801461
|
0.00001
|
NM_213607.3(CCDC103):c.513G>A (p.Ala171=)
|
rs557822238
|
0.00001
|
NM_213607.3(CCDC103):c.558A>C (p.Ala186=)
|
rs1034464450
|
0.00001
|
NM_213607.3(CCDC103):c.567G>A (p.Glu189=)
|
rs771177851
|
0.00001
|
NM_213607.3(CCDC103):c.705G>C (p.Leu235=)
|
rs878855312
|
0.00001
|
NM_213607.3(CCDC103):c.72G>A (p.Glu24=)
|
rs752532336
|
0.00001
|
NM_000328.3(RPGR):c.2052A>G (p.Glu684=)
|
|
|
NM_000328.3(RPGR):c.2076T>A (p.Ala692=)
|
|
|
NM_000328.3(RPGR):c.2091+13A>G
|
|
|
NM_000328.3(RPGR):c.2091+7T>C
|
|
|
NM_000328.3(RPGR):c.2101G>A (p.Ala701Thr)
|
|
|
NM_000328.3(RPGR):c.2116C>T (p.Arg706Trp)
|
|
|
NM_000328.3(RPGR):c.2149+12T>C
|
|
|
NM_000328.3(RPGR):c.2149+19A>G
|
|
|
NM_000328.3(RPGR):c.2150-10C>T
|
|
|
NM_000328.3(RPGR):c.2151A>T (p.Gly717=)
|
|
|
NM_000328.3(RPGR):c.2154C>T (p.Tyr718=)
|
|
|
NM_000328.3(RPGR):c.2172T>C (p.Asp724=)
|
|
|
NM_000328.3(RPGR):c.2241+10A>G
|
|
|
NM_000328.3(RPGR):c.2241+17_2241+18del
|
|
|
NM_000328.3(RPGR):c.2246T>C (p.Phe749Ser)
|
|
|
NM_000328.3(RPGR):c.2259A>G (p.Arg753=)
|
|
|
NM_000328.3(RPGR):c.2265C>T (p.Pro755=)
|
|
|
NM_000328.3(RPGR):c.2267C>T (p.Ser756Leu)
|
rs766828733
|
|
NM_000328.3(RPGR):c.2286C>G (p.Val762=)
|
|
|
NM_000328.3(RPGR):c.2297A>G (p.Asn766Ser)
|
|
|
NM_000328.3(RPGR):c.2303C>T (p.Pro768Leu)
|
|
|
NM_000328.3(RPGR):c.2325A>C (p.Ile775=)
|
|
|
NM_000328.3(RPGR):c.2355T>C (p.Asn785=)
|
|
|
NM_000328.3(RPGR):c.2394G>A (p.Gln798=)
|
|
|
NM_000328.3(RPGR):c.2439A>G (p.Thr813=)
|
|
|
NM_001010892.3(RSPH4A):c.1078T>C (p.Leu360=)
|
|
|
NM_001010892.3(RSPH4A):c.1086G>C (p.Leu362=)
|
|
|
NM_001010892.3(RSPH4A):c.1113G>A (p.Val371=)
|
|
|
NM_001010892.3(RSPH4A):c.1131A>G (p.Glu377=)
|
|
|
NM_001010892.3(RSPH4A):c.1158T>C (p.Asp386=)
|
|
|
NM_001010892.3(RSPH4A):c.117G>T (p.Ser39=)
|
|
|
NM_001010892.3(RSPH4A):c.1221A>G (p.Pro407=)
|
|
|
NM_001010892.3(RSPH4A):c.1248T>A (p.Ala416=)
|
|
|
NM_001010892.3(RSPH4A):c.1287T>C (p.Tyr429=)
|
|
|
NM_001010892.3(RSPH4A):c.1377G>A (p.Lys459=)
|
rs563352149
|
|
NM_001010892.3(RSPH4A):c.1395A>C (p.Arg465=)
|
|
|
NM_001010892.3(RSPH4A):c.1404T>C (p.Ala468=)
|
rs2115362226
|
|
NM_001010892.3(RSPH4A):c.1410C>T (p.Ile470=)
|
|
|
NM_001010892.3(RSPH4A):c.1419C>T (p.Tyr473=)
|
|
|
NM_001010892.3(RSPH4A):c.144G>T (p.Gly48=)
|
|
|
NM_001010892.3(RSPH4A):c.1497T>G (p.Pro499=)
|
|
|
NM_001010892.3(RSPH4A):c.1498C>T (p.Leu500=)
|
|
|
NM_001010892.3(RSPH4A):c.1545G>A (p.Glu515=)
|
rs1775734186
|
|
NM_001010892.3(RSPH4A):c.1548A>T (p.Ala516=)
|
|
|
NM_001010892.3(RSPH4A):c.15C>A (p.Thr5=)
|
rs2115350772
|
|
NM_001010892.3(RSPH4A):c.15C>T (p.Thr5=)
|
|
|
NM_001010892.3(RSPH4A):c.1641T>C (p.His547=)
|
|
|
NM_001010892.3(RSPH4A):c.1662+8C>A
|
|
|
NM_001010892.3(RSPH4A):c.1663-16C>T
|
|
|
NM_001010892.3(RSPH4A):c.1752A>G (p.Glu584=)
|
rs914594241
|
|
NM_001010892.3(RSPH4A):c.1798+11G>C
|
|
|
NM_001010892.3(RSPH4A):c.1803T>A (p.Ile601=)
|
|
|
NM_001010892.3(RSPH4A):c.18C>T (p.Ser6=)
|
|
|
NM_001010892.3(RSPH4A):c.1917-15T>G
|
|
|
NM_001010892.3(RSPH4A):c.2094C>T (p.Leu698=)
|
|
|
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.375T>C (p.Pro125=)
|
|
|
NM_001010892.3(RSPH4A):c.396T>C (p.Ser132=)
|
|
|
NM_001010892.3(RSPH4A):c.465A>G (p.Gln155=)
|
|
|
NM_001010892.3(RSPH4A):c.495C>T (p.Asp165=)
|
rs767593671
|
|
NM_001010892.3(RSPH4A):c.570T>C (p.Tyr190=)
|
|
|
NM_001010892.3(RSPH4A):c.585G>T (p.Pro195=)
|
|
|
NM_001010892.3(RSPH4A):c.675G>A (p.Ser225=)
|
|
|
NM_001010892.3(RSPH4A):c.686+13G>A
|
|
|
NM_001010892.3(RSPH4A):c.687-20A>C
|
rs773538494
|
|
NM_001010892.3(RSPH4A):c.829T>C (p.Leu277=)
|
|
|
NM_001010892.3(RSPH4A):c.882A>C (p.Gly294=)
|
|
|
NM_001010892.3(RSPH4A):c.921+11A>T
|
|
|
NM_001010892.3(RSPH4A):c.981T>C (p.Val327=)
|
rs1554249218
|
|
NM_001034853.2(RPGR):c.1015A>G (p.Ile339Val)
|
|
|
NM_001034853.2(RPGR):c.1032T>C (p.Ser344=)
|
|
|
NM_001034853.2(RPGR):c.1059+13C>T
|
|
|
NM_001034853.2(RPGR):c.1059+17del
|
|
|
NM_001034853.2(RPGR):c.1065T>C (p.Ala355=)
|
|
|
NM_001034853.2(RPGR):c.1080C>T (p.His360=)
|
|
|
NM_001034853.2(RPGR):c.1089T>G (p.Val363=)
|
|
|
NM_001034853.2(RPGR):c.1095T>G (p.Ala365=)
|
|
|
NM_001034853.2(RPGR):c.1105C>G (p.Arg369Gly)
|
|
|
NM_001034853.2(RPGR):c.1106G>A (p.Arg369His)
|
|
|
NM_001034853.2(RPGR):c.1117_1119dup (p.Lys373_Glu374insLys)
|
|
|
NM_001034853.2(RPGR):c.1129T>C (p.Phe377Leu)
|
|
|
NM_001034853.2(RPGR):c.1149T>A (p.Thr383=)
|
|
|
NM_001034853.2(RPGR):c.1175C>T (p.Pro392Leu)
|
|
|
NM_001034853.2(RPGR):c.1176G>A (p.Pro392=)
|
|
|
NM_001034853.2(RPGR):c.1191C>T (p.Thr397=)
|
|
|
NM_001034853.2(RPGR):c.1197A>G (p.Gly399=)
|
|
|
NM_001034853.2(RPGR):c.1201G>A (p.Val401Ile)
|
|
|
NM_001034853.2(RPGR):c.1204C>T (p.Leu402=)
|
|
|
NM_001034853.2(RPGR):c.1233G>T (p.Arg411=)
|
|
|
NM_001034853.2(RPGR):c.1245+7T>C
|
|
|
NM_001034853.2(RPGR):c.1246-17A>G
|
|
|
NM_001034853.2(RPGR):c.1251G>A (p.Arg417=)
|
|
|
NM_001034853.2(RPGR):c.1254T>C (p.Ser418=)
|
|
|
NM_001034853.2(RPGR):c.1273A>G (p.Arg425Gly)
|
|
|
NM_001034853.2(RPGR):c.1282C>G (p.Leu428Val)
|
|
|
NM_001034853.2(RPGR):c.1329C>G (p.Pro443=)
|
rs2147227730
|
|
NM_001034853.2(RPGR):c.1346G>A (p.Arg449Gln)
|
|
|
NM_001034853.2(RPGR):c.1414+13A>G
|
|
|
NM_001034853.2(RPGR):c.1414+18G>C
|
|
|
NM_001034853.2(RPGR):c.1414+19_1414+22del
|
|
|
NM_001034853.2(RPGR):c.1414+9T>C
|
|
|
NM_001034853.2(RPGR):c.1415-7C>A
|
|
|
NM_001034853.2(RPGR):c.1415-9A>T
|
|
|
NM_001034853.2(RPGR):c.1443A>C (p.Glu481Asp)
|
|
|
NM_001034853.2(RPGR):c.1497C>A (p.Ile499=)
|
|
|
NM_001034853.2(RPGR):c.1506+16_1506+19del
|
|
|
NM_001034853.2(RPGR):c.1507-17T>A
|
|
|
NM_001034853.2(RPGR):c.1507-9T>C
|
|
|
NM_001034853.2(RPGR):c.154+11C>A
|
|
|
NM_001034853.2(RPGR):c.154+13A>G
|
|
|
NM_001034853.2(RPGR):c.1572+18A>G
|
|
|
NM_001034853.2(RPGR):c.1573-17C>T
|
|
|
NM_001034853.2(RPGR):c.1585A>C (p.Ile529Leu)
|
|
|
NM_001034853.2(RPGR):c.1585A>G (p.Ile529Val)
|
|
|
NM_001034853.2(RPGR):c.1599G>A (p.Thr533=)
|
|
|
NM_001034853.2(RPGR):c.1607C>T (p.Thr536Ile)
|
|
|
NM_001034853.2(RPGR):c.1616C>T (p.Thr539Ile)
|
|
|
NM_001034853.2(RPGR):c.1640A>T (p.Tyr547Phe)
|
|
|
NM_001034853.2(RPGR):c.1653A>G (p.Ser551=)
|
|
|
NM_001034853.2(RPGR):c.1722G>A (p.Thr574=)
|
|
|
NM_001034853.2(RPGR):c.1726A>G (p.Ile576Val)
|
|
|
NM_001034853.2(RPGR):c.1728C>A (p.Ile576=)
|
|
|
NM_001034853.2(RPGR):c.1734A>G (p.Ala578=)
|
|
|
NM_001034853.2(RPGR):c.1746G>A (p.Glu582=)
|
|
|
NM_001034853.2(RPGR):c.1754-10C>T
|
|
|
NM_001034853.2(RPGR):c.1754-13G>C
|
|
|
NM_001034853.2(RPGR):c.1784A>T (p.Asp595Val)
|
|
|
NM_001034853.2(RPGR):c.1803A>G (p.Ile601Met)
|
|
|
NM_001034853.2(RPGR):c.1875C>A (p.Ile625=)
|
|
|
NM_001034853.2(RPGR):c.1918A>G (p.Lys640Glu)
|
|
|
NM_001034853.2(RPGR):c.1921G>C (p.Ala641Pro)
|
|
|
NM_001034853.2(RPGR):c.1974C>T (p.Thr658=)
|
|
|
NM_001034853.2(RPGR):c.2016G>A (p.Glu672=)
|
|
|
NM_001034853.2(RPGR):c.2043G>A (p.Lys681=)
|
|
|
NM_001034853.2(RPGR):c.2055A>G (p.Glu685=)
|
|
|
NM_001034853.2(RPGR):c.2067A>T (p.Pro689=)
|
|
|
NM_001034853.2(RPGR):c.2184G>A (p.Glu728=)
|
|
|
NM_001034853.2(RPGR):c.2220A>G (p.Glu740=)
|
|
|
NM_001034853.2(RPGR):c.2331G>A (p.Lys777=)
|
|
|
NM_001034853.2(RPGR):c.2343G>A (p.Ala781=)
|
|
|
NM_001034853.2(RPGR):c.2385G>C (p.Glu795Asp)
|
|
|
NM_001034853.2(RPGR):c.2415G>C (p.Gly805=)
|
|
|
NM_001034853.2(RPGR):c.2432GAGGGGAAGTAGAGG[1] (p.811GGEVE[1])
|
rs777850798
|
|
NM_001034853.2(RPGR):c.2451G>A (p.Gly817=)
|
|
|
NM_001034853.2(RPGR):c.248-20C>T
|
|
|
NM_001034853.2(RPGR):c.2496G>A (p.Glu832=)
|
|
|
NM_001034853.2(RPGR):c.2511G>A (p.Glu837=)
|
|
|
NM_001034853.2(RPGR):c.2520GGAGGGGGAAGAGGAGGAAGG[3] (p.829EEEEGEG[5])
|
rs751710678
|
|
NM_001034853.2(RPGR):c.2526G>A (p.Gly842=)
|
|
|
NM_001034853.2(RPGR):c.2532GGA[1] (p.Glu846del)
|
|
|
NM_001034853.2(RPGR):c.2535_2558del (p.Glu846_Glu853del)
|
rs760332126
|
|
NM_001034853.2(RPGR):c.2541G>A (p.Gly847=)
|
rs750364695
|
|
NM_001034853.2(RPGR):c.2547G>A (p.Gly849=)
|
|
|
NM_001034853.2(RPGR):c.2556G>A (p.Glu852=)
|
|
|
NM_001034853.2(RPGR):c.2565A>G (p.Glu855=)
|
|
|
NM_001034853.2(RPGR):c.2580A>G (p.Glu860=)
|
|
|
NM_001034853.2(RPGR):c.2589A>G (p.Glu863=)
|
|
|
NM_001034853.2(RPGR):c.2589_2615del (p.860EEGEEGEGE[1])
|
|
|
NM_001034853.2(RPGR):c.2597AAGGGGAGGAAG[1] (p.866EGEE[1])
|
|
|
NM_001034853.2(RPGR):c.2601G>A (p.Gly867=)
|
|
|
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.2613G>T (p.Gly871=)
|
|
|
NM_001034853.2(RPGR):c.2616G>A (p.Glu872=)
|
|
|
NM_001034853.2(RPGR):c.2619A>G (p.Glu873=)
|
|
|
NM_001034853.2(RPGR):c.2646AGGAGAAGGGGAGGGAGAAGAGGA[3] (p.883GEGEGEEE[3])
|
rs756520886
|
|
NM_001034853.2(RPGR):c.264A>G (p.Lys88=)
|
|
|
NM_001034853.2(RPGR):c.267G>C (p.Val89=)
|
rs2147285733
|
|
NM_001034853.2(RPGR):c.2682G>A (p.Glu894=)
|
|
|
NM_001034853.2(RPGR):c.2691G>A (p.Glu897=)
|
|
|
NM_001034853.2(RPGR):c.2691GGA[1] (p.Glu899del)
|
rs745428229
|
|
NM_001034853.2(RPGR):c.2712A>G (p.Gly904=)
|
|
|
NM_001034853.2(RPGR):c.2742GGA[1] (p.Glu916del)
|
rs751721873
|
|
NM_001034853.2(RPGR):c.2751A>G (p.Gly917=)
|
|
|
NM_001034853.2(RPGR):c.28+10G>T
|
|
|
NM_001034853.2(RPGR):c.28+18C>T
|
|
|
NM_001034853.2(RPGR):c.28+19G>T
|
|
|
NM_001034853.2(RPGR):c.28+9C>A
|
|
|
NM_001034853.2(RPGR):c.2820A>G (p.Glu940=)
|
|
|
NM_001034853.2(RPGR):c.2841G>A (p.Glu947=)
|
|
|
NM_001034853.2(RPGR):c.2856A>G (p.Glu952=)
|
|
|
NM_001034853.2(RPGR):c.2871G>A (p.Gly957=)
|
|
|
NM_001034853.2(RPGR):c.29-17C>A
|
|
|
NM_001034853.2(RPGR):c.2904G>A (p.Glu968=)
|
|
|
NM_001034853.2(RPGR):c.2919A>G (p.Glu973=)
|
|
|
NM_001034853.2(RPGR):c.2919_2939dup (p.970GEGEGEE[3])
|
rs772859148
|
|
NM_001034853.2(RPGR):c.2937G>C (p.Gly979=)
|
|
|
NM_001034853.2(RPGR):c.2940G>A (p.Glu980=)
|
|
|
NM_001034853.2(RPGR):c.2946A>G (p.Glu982=)
|
|
|
NM_001034853.2(RPGR):c.294C>T (p.His98=)
|
|
|
NM_001034853.2(RPGR):c.2976G>A (p.Glu992=)
|
|
|
NM_001034853.2(RPGR):c.2988A>G (p.Glu996=)
|
|
|
NM_001034853.2(RPGR):c.3018G>A (p.Glu1006=)
|
|
|
NM_001034853.2(RPGR):c.3051_3053del (p.Glu1018del)
|
rs200955614
|
|
NM_001034853.2(RPGR):c.3108_3122del (p.1033EGEEE[1])
|
rs774012136
|
|
NM_001034853.2(RPGR):c.311-10C>A
|
|
|
NM_001034853.2(RPGR):c.311-20G>A
|
|
|
NM_001034853.2(RPGR):c.311-6G>A
|
|
|
NM_001034853.2(RPGR):c.311-7T>C
|
|
|
NM_001034853.2(RPGR):c.3114_3122del (p.Gly1039_Glu1041del)
|
|
|
NM_001034853.2(RPGR):c.3120GGA[1] (p.Glu1042del)
|
rs748582313
|
|
NM_001034853.2(RPGR):c.3183GGA[2] (p.Glu1066del)
|
rs746535151
|
|
NM_001034853.2(RPGR):c.3204G>A (p.Lys1068=)
|
|
|
NM_001034853.2(RPGR):c.320A>G (p.Asn107Ser)
|
|
|
NM_001034853.2(RPGR):c.3291T>C (p.Tyr1097=)
|
|
|
NM_001034853.2(RPGR):c.3317A>G (p.Lys1106Arg)
|
|
|
NM_001034853.2(RPGR):c.3384A>C (p.Arg1128=)
|
|
|
NM_001034853.2(RPGR):c.3405A>T (p.Ser1135=)
|
|
|
NM_001034853.2(RPGR):c.3451T>C (p.Leu1151=)
|
|
|
NM_001034853.2(RPGR):c.360G>A (p.Gly120=)
|
|
|
NM_001034853.2(RPGR):c.39T>C (p.Ala13=)
|
|
|
NM_001034853.2(RPGR):c.414C>G (p.Ser138=)
|
|
|
NM_001034853.2(RPGR):c.417G>A (p.Glu139=)
|
|
|
NM_001034853.2(RPGR):c.42G>C (p.Val14=)
|
|
|
NM_001034853.2(RPGR):c.453T>G (p.Thr151=)
|
|
|
NM_001034853.2(RPGR):c.469+13del
|
|
|
NM_001034853.2(RPGR):c.469+18T>C
|
|
|
NM_001034853.2(RPGR):c.504C>T (p.Ser168=)
|
|
|
NM_001034853.2(RPGR):c.528T>C (p.Asn176=)
|
|
|
NM_001034853.2(RPGR):c.529G>A (p.Val177Ile)
|
|
|
NM_001034853.2(RPGR):c.619+11T>C
|
|
|
NM_001034853.2(RPGR):c.619+18G>A
|
rs368570763
|
|
NM_001034853.2(RPGR):c.620-17T>C
|
|
|
NM_001034853.2(RPGR):c.620-5A>G
|
|
|
NM_001034853.2(RPGR):c.620-6C>T
|
|
|
NM_001034853.2(RPGR):c.633A>G (p.Leu211=)
|
|
|
NM_001034853.2(RPGR):c.690C>A (p.Gly230=)
|
|
|
NM_001034853.2(RPGR):c.726G>A (p.Pro242=)
|
|
|
NM_001034853.2(RPGR):c.750T>C (p.Cys250=)
|
|
|
NM_001034853.2(RPGR):c.774C>T (p.Leu258=)
|
|
|
NM_001034853.2(RPGR):c.778+11A>G
|
|
|
NM_001034853.2(RPGR):c.778+16A>G
|
|
|
NM_001034853.2(RPGR):c.778+7G>A
|
|
|
NM_001034853.2(RPGR):c.779-16G>T
|
|
|
NM_001034853.2(RPGR):c.779-7C>G
|
|
|
NM_001034853.2(RPGR):c.843T>C (p.Phe281=)
|
|
|
NM_001034853.2(RPGR):c.872A>G (p.Asn291Ser)
|
|
|
NM_001034853.2(RPGR):c.918C>T (p.His306=)
|
|
|
NM_001034853.2(RPGR):c.934+11G>A
|
|
|
NM_001034853.2(RPGR):c.934+7A>G
|
|
|
NM_001034853.2(RPGR):c.939C>T (p.Ile313=)
|
|
|
NM_001034853.2(RPGR):c.942C>T (p.Gly314=)
|
|
|
NM_001034853.2(RPGR):c.972C>T (p.His324=)
|
|
|
NM_001190787.3(MCIDAS):c.102G>A (p.Pro34=)
|
|
|
NM_001190787.3(MCIDAS):c.102G>C (p.Pro34=)
|
rs1232343628
|
|
NM_001190787.3(MCIDAS):c.1053C>T (p.Arg351=)
|
|
|
NM_001190787.3(MCIDAS):c.1125C>T (p.Asn375=)
|
|
|
NM_001190787.3(MCIDAS):c.120+8G>C
|
|
|
NM_001190787.3(MCIDAS):c.121-6G>T
|
|
|
NM_001190787.3(MCIDAS):c.150A>G (p.Gly50=)
|
|
|
NM_001190787.3(MCIDAS):c.156A>G (p.Thr52=)
|
|
|
NM_001190787.3(MCIDAS):c.174G>C (p.Ser58=)
|
|
|
NM_001190787.3(MCIDAS):c.218-13_218-6dup
|
rs771063151
|
|
NM_001190787.3(MCIDAS):c.218-15G>C
|
|
|
NM_001190787.3(MCIDAS):c.218-18C>T
|
|
|
NM_001190787.3(MCIDAS):c.218-4G>A
|
|
|
NM_001190787.3(MCIDAS):c.218-7C>A
|
|
|
NM_001190787.3(MCIDAS):c.219C>T (p.Ala73=)
|
|
|
NM_001190787.3(MCIDAS):c.222C>G (p.Leu74=)
|
|
|
NM_001190787.3(MCIDAS):c.235C>T (p.Leu79=)
|
|
|
NM_001190787.3(MCIDAS):c.255C>T (p.Cys85=)
|
|
|
NM_001190787.3(MCIDAS):c.295C>T (p.Leu99=)
|
|
|
NM_001190787.3(MCIDAS):c.297G>A (p.Leu99=)
|
|
|
NM_001190787.3(MCIDAS):c.300C>T (p.Ala100=)
|
|
|
NM_001190787.3(MCIDAS):c.306G>T (p.Ser102=)
|
|
|
NM_001190787.3(MCIDAS):c.309+7C>G
|
|
|
NM_001190787.3(MCIDAS):c.309+8C>T
|
|
|
NM_001190787.3(MCIDAS):c.309+9C>G
|
|
|
NM_001190787.3(MCIDAS):c.310-11G>T
|
|
|
NM_001190787.3(MCIDAS):c.324A>G (p.Gln108=)
|
|
|
NM_001190787.3(MCIDAS):c.336C>T (p.Asp112=)
|
|
|
NM_001190787.3(MCIDAS):c.345G>A (p.Leu115=)
|
|
|
NM_001190787.3(MCIDAS):c.382+18G>T
|
|
|
NM_001190787.3(MCIDAS):c.382+7G>A
|
|
|
NM_001190787.3(MCIDAS):c.383-10TCT[3]
|
|
|
NM_001190787.3(MCIDAS):c.383-14C>T
|
|
|
NM_001190787.3(MCIDAS):c.42C>T (p.Phe14=)
|
|
|
NM_001190787.3(MCIDAS):c.450A>G (p.Ser150=)
|
rs1745376296
|
|
NM_001190787.3(MCIDAS):c.453A>C (p.Pro151=)
|
|
|
NM_001190787.3(MCIDAS):c.558G>A (p.Ala186=)
|
|
|
NM_001190787.3(MCIDAS):c.576G>A (p.Ala192=)
|
rs903733014
|
|
NM_001190787.3(MCIDAS):c.606+16T>G
|
|
|
NM_001190787.3(MCIDAS):c.607-12C>T
|
|
|
NM_001190787.3(MCIDAS):c.609G>A (p.Leu203=)
|
|
|
NM_001190787.3(MCIDAS):c.690A>C (p.Arg230=)
|
|
|
NM_001190787.3(MCIDAS):c.717+16G>A
|
rs2111690430
|
|
NM_001190787.3(MCIDAS):c.717+20G>A
|
|
|
NM_001190787.3(MCIDAS):c.718-5C>T
|
|
|
NM_001190787.3(MCIDAS):c.721C>T (p.Leu241=)
|
|
|
NM_001190787.3(MCIDAS):c.72A>G (p.Ala24=)
|
|
|
NM_001190787.3(MCIDAS):c.72A>T (p.Ala24=)
|
rs2111703673
|
|
NM_001190787.3(MCIDAS):c.739C>A (p.Arg247=)
|
rs199825346
|
|
NM_001190787.3(MCIDAS):c.759C>T (p.Ala253=)
|
|
|
NM_001190787.3(MCIDAS):c.78G>A (p.Pro26=)
|
rs761064821
|
|
NM_001206927.2(DNAH8):c.10098G>A (p.Glu3366=)
|
|
|
NM_001206927.2(DNAH8):c.10101A>G (p.Ala3367=)
|
|
|
NM_001206927.2(DNAH8):c.10140+12A>G
|
rs2150540668
|
|
NM_001206927.2(DNAH8):c.10140+15G>T
|
|
|
NM_001206927.2(DNAH8):c.10140+7A>G
|
|
|
NM_001206927.2(DNAH8):c.10141-11C>T
|
|
|
NM_001206927.2(DNAH8):c.10141-19T>C
|
|
|
NM_001206927.2(DNAH8):c.10176A>G (p.Lys3392=)
|
|
|
NM_001206927.2(DNAH8):c.10194T>C (p.His3398=)
|
|
|
NM_001206927.2(DNAH8):c.10269A>G (p.Glu3423=)
|
|
|
NM_001206927.2(DNAH8):c.10299G>A (p.Glu3433=)
|
|
|
NM_001206927.2(DNAH8):c.10308+14A>G
|
|
|
NM_001206927.2(DNAH8):c.10330C>T (p.Leu3444=)
|
|
|
NM_001206927.2(DNAH8):c.10341T>C (p.Leu3447=)
|
|
|
NM_001206927.2(DNAH8):c.10374G>A (p.Glu3458=)
|
|
|
NM_001206927.2(DNAH8):c.10395A>G (p.Pro3465=)
|
|
|
NM_001206927.2(DNAH8):c.10497C>A (p.Gly3499=)
|
|
|
NM_001206927.2(DNAH8):c.10524+15C>T
|
|
|
NM_001206927.2(DNAH8):c.10525-15TCT[2]
|
rs748043587
|
|
NM_001206927.2(DNAH8):c.10525-19C>T
|
|
|
NM_001206927.2(DNAH8):c.10525-20C>A
|
|
|
NM_001206927.2(DNAH8):c.10662+8T>C
|
rs1177385307
|
|
NM_001206927.2(DNAH8):c.10662+9A>G
|
|
|
NM_001206927.2(DNAH8):c.10663-12T>C
|
|
|
NM_001206927.2(DNAH8):c.10663-13A>G
|
|
|
NM_001206927.2(DNAH8):c.10790+13G>C
|
|
|
NM_001206927.2(DNAH8):c.10790+16T>G
|
|
|
NM_001206927.2(DNAH8):c.10790+8T>C
|
|
|
NM_001206927.2(DNAH8):c.10791-5C>T
|
rs1781917959
|
|
NM_001206927.2(DNAH8):c.10887A>G (p.Glu3629=)
|
rs1781925331
|
|
NM_001206927.2(DNAH8):c.10962+11C>G
|
|
|
NM_001206927.2(DNAH8):c.10962+19A>G
|
|
|
NM_001206927.2(DNAH8):c.10963-17C>T
|
|
|
NM_001206927.2(DNAH8):c.10992A>T (p.Pro3664=)
|
|
|
NM_001206927.2(DNAH8):c.10998T>C (p.Asp3666=)
|
rs201841900
|
|
NM_001206927.2(DNAH8):c.11064A>G (p.Pro3688=)
|
|
|
NM_001206927.2(DNAH8):c.11118+20G>A
|
rs754545702
|
|
NM_001206927.2(DNAH8):c.1116+14A>G
|
|
|
NM_001206927.2(DNAH8):c.1116+9A>C
|
|
|
NM_001206927.2(DNAH8):c.11169T>C (p.Leu3723=)
|
|
|
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=)
|
|
|
NM_001206927.2(DNAH8):c.11265C>A (p.Thr3755=)
|
|
|
NM_001206927.2(DNAH8):c.11274+11_11274+13dup
|
|
|
NM_001206927.2(DNAH8):c.11274+11dup
|
|
|
NM_001206927.2(DNAH8):c.11274+12A>G
|
|
|
NM_001206927.2(DNAH8):c.11275-4G>A
|
|
|
NM_001206927.2(DNAH8):c.11334G>A (p.Thr3778=)
|
|
|
NM_001206927.2(DNAH8):c.11358C>T (p.Thr3786=)
|
rs751697426
|
|
NM_001206927.2(DNAH8):c.11439C>G (p.Val3813=)
|
|
|
NM_001206927.2(DNAH8):c.11457+5TC[6]
|
rs745611444
|
|
NM_001206927.2(DNAH8):c.11458-16T>G
|
|
|
NM_001206927.2(DNAH8):c.11526T>A (p.Leu3842=)
|
|
|
NM_001206927.2(DNAH8):c.11529A>G (p.Glu3843=)
|
rs2150586198
|
|
NM_001206927.2(DNAH8):c.11556T>C (p.Ala3852=)
|
|
|
NM_001206927.2(DNAH8):c.11700C>A (p.Pro3900=)
|
rs142515873
|
|
NM_001206927.2(DNAH8):c.11814C>A (p.Ala3938=)
|
|
|
NM_001206927.2(DNAH8):c.11819C>A (p.Ser3940Tyr)
|
|
|
NM_001206927.2(DNAH8):c.11949A>G (p.Leu3983=)
|
|
|
NM_001206927.2(DNAH8):c.11979G>A (p.Lys3993=)
|
rs2150595534
|
|
NM_001206927.2(DNAH8):c.12000C>T (p.Leu4000=)
|
|
|
NM_001206927.2(DNAH8):c.12007+14G>C
|
|
|
NM_001206927.2(DNAH8):c.12008-19G>C
|
|
|
NM_001206927.2(DNAH8):c.12008-4C>T
|
|
|
NM_001206927.2(DNAH8):c.12018T>C (p.Ala4006=)
|
|
|
NM_001206927.2(DNAH8):c.12019C>T (p.Leu4007=)
|
|
|
NM_001206927.2(DNAH8):c.12100C>T (p.Leu4034Phe)
|
rs146505940
|
|
NM_001206927.2(DNAH8):c.12114A>T (p.Ala4038=)
|
|
|
NM_001206927.2(DNAH8):c.12129+13A>G
|
rs932186319
|
|
NM_001206927.2(DNAH8):c.12129+20G>C
|
|
|
NM_001206927.2(DNAH8):c.12130-13T>G
|
|
|
NM_001206927.2(DNAH8):c.12147G>A (p.Lys4049=)
|
|
|
NM_001206927.2(DNAH8):c.12248+13A>T
|
|
|
NM_001206927.2(DNAH8):c.12345G>A (p.Glu4115=)
|
|
|
NM_001206927.2(DNAH8):c.12393G>C (p.Leu4131=)
|
rs2150635620
|
|
NM_001206927.2(DNAH8):c.123C>G (p.Ala41=)
|
|
|
NM_001206927.2(DNAH8):c.12452-12C>T
|
|
|
NM_001206927.2(DNAH8):c.12452-9A>G
|
|
|
NM_001206927.2(DNAH8):c.12526-20G>A
|
|
|
NM_001206927.2(DNAH8):c.12537A>T (p.Val4179=)
|
rs2150694635
|
|
NM_001206927.2(DNAH8):c.12558T>C (p.Leu4186=)
|
|
|
NM_001206927.2(DNAH8):c.12561C>T (p.Gly4187=)
|
|
|
NM_001206927.2(DNAH8):c.12618T>C (p.Asp4206=)
|
|
|
NM_001206927.2(DNAH8):c.12625C>A (p.Arg4209=)
|
|
|
NM_001206927.2(DNAH8):c.12669A>G (p.Thr4223=)
|
|
|
NM_001206927.2(DNAH8):c.12678+14C>T
|
|
|
NM_001206927.2(DNAH8):c.12679-4A>G
|
|
|
NM_001206927.2(DNAH8):c.12681C>T (p.Thr4227=)
|
|
|
NM_001206927.2(DNAH8):c.126G>A (p.Pro42=)
|
|
|
NM_001206927.2(DNAH8):c.12714T>G (p.Gly4238=)
|
|
|
NM_001206927.2(DNAH8):c.12795G>C (p.Pro4265=)
|
rs188101498
|
|
NM_001206927.2(DNAH8):c.12834+15C>T
|
|
|
NM_001206927.2(DNAH8):c.12834+20T>C
|
|
|
NM_001206927.2(DNAH8):c.12835-11G>C
|
|
|
NM_001206927.2(DNAH8):c.12835-4T>C
|
|
|
NM_001206927.2(DNAH8):c.12835-7T>C
|
|
|
NM_001206927.2(DNAH8):c.12852C>T (p.Gly4284=)
|
|
|
NM_001206927.2(DNAH8):c.12876C>T (p.Tyr4292=)
|
|
|
NM_001206927.2(DNAH8):c.12897T>C (p.Phe4299=)
|
rs2150713871
|
|
NM_001206927.2(DNAH8):c.1293+8G>C
|
|
|
NM_001206927.2(DNAH8):c.12951+13A>G
|
|
|
NM_001206927.2(DNAH8):c.12954T>G (p.Gly4318=)
|
|
|
NM_001206927.2(DNAH8):c.12984C>T (p.Ile4328=)
|
|
|
NM_001206927.2(DNAH8):c.13035A>G (p.Leu4345=)
|
|
|
NM_001206927.2(DNAH8):c.13053+20T>C
|
|
|
NM_001206927.2(DNAH8):c.13054-11C>G
|
|
|
NM_001206927.2(DNAH8):c.13215-4C>T
|
rs373756546
|
|
NM_001206927.2(DNAH8):c.13287T>C (p.Gly4429=)
|
|
|
NM_001206927.2(DNAH8):c.13302G>A (p.Arg4434=)
|
|
|
NM_001206927.2(DNAH8):c.13371+10G>C
|
rs766324900
|
|
NM_001206927.2(DNAH8):c.13372-5T>C
|
|
|
NM_001206927.2(DNAH8):c.13398C>A (p.Gly4466=)
|
|
|
NM_001206927.2(DNAH8):c.1350T>C (p.Asn450=)
|
rs1234479484
|
|
NM_001206927.2(DNAH8):c.13524+13T>C
|
|
|
NM_001206927.2(DNAH8):c.13524+19A>G
|
rs113624987
|
|
NM_001206927.2(DNAH8):c.13587G>A (p.Val4529=)
|
|
|
NM_001206927.2(DNAH8):c.13683G>T (p.Val4561=)
|
rs201274048
|
|
NM_001206927.2(DNAH8):c.1368T>C (p.Thr456=)
|
|
|
NM_001206927.2(DNAH8):c.13722C>T (p.Leu4574=)
|
|
|
NM_001206927.2(DNAH8):c.13748G>T (p.Arg4583Leu)
|
rs139227429
|
|
NM_001206927.2(DNAH8):c.13767A>G (p.Ala4589=)
|
|
|
NM_001206927.2(DNAH8):c.13773C>T (p.Asp4591=)
|
|
|
NM_001206927.2(DNAH8):c.1380G>A (p.Val460=)
|
|
|
NM_001206927.2(DNAH8):c.13824G>A (p.Thr4608=)
|
rs776969419
|
|
NM_001206927.2(DNAH8):c.13827A>C (p.Ser4609=)
|
|
|
NM_001206927.2(DNAH8):c.13836+15G>A
|
|
|
NM_001206927.2(DNAH8):c.13836+7G>A
|
|
|
NM_001206927.2(DNAH8):c.13837-12T>G
|
|
|
NM_001206927.2(DNAH8):c.13837-4C>T
|
|
|
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.13932G>A (p.Thr4644=)
|
|
|
NM_001206927.2(DNAH8):c.13941C>T (p.Pro4647=)
|
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|
NM_001206927.2(DNAH8):c.13983C>T (p.Asp4661=)
|
|
|
NM_001206927.2(DNAH8):c.1428A>T (p.Ile476=)
|
|
|
NM_001206927.2(DNAH8):c.150C>T (p.Ser50=)
|
|
|
NM_001206927.2(DNAH8):c.1516-15C>A
|
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NM_001206927.2(DNAH8):c.1516-15C>G
|
|
|
NM_001206927.2(DNAH8):c.1516-15C>T
|
|
|
NM_001206927.2(DNAH8):c.1516-20T>A
|
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|
NM_001206927.2(DNAH8):c.156A>G (p.Glu52=)
|
|
|
NM_001206927.2(DNAH8):c.1617+19A>T
|
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|
NM_001206927.2(DNAH8):c.1618-13_1618-8del
|
|
|
NM_001206927.2(DNAH8):c.1677T>A (p.Ile559=)
|
|
|
NM_001206927.2(DNAH8):c.1677T>C (p.Ile559=)
|
rs201711281
|
|
NM_001206927.2(DNAH8):c.1692G>A (p.Gly564=)
|
|
|
NM_001206927.2(DNAH8):c.1743T>C (p.Ala581=)
|
|
|
NM_001206927.2(DNAH8):c.1743T>G (p.Ala581=)
|
|
|
NM_001206927.2(DNAH8):c.1764+12G>A
|
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|
NM_001206927.2(DNAH8):c.1764+20C>T
|
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|
NM_001206927.2(DNAH8):c.1765-11C>G
|
|
|
NM_001206927.2(DNAH8):c.1765-9C>G
|
rs1767999643
|
|
NM_001206927.2(DNAH8):c.1794A>G (p.Thr598=)
|
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|
NM_001206927.2(DNAH8):c.1827A>G (p.Gly609=)
|
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|
NM_001206927.2(DNAH8):c.1950C>T (p.Ile650=)
|
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|
NM_001206927.2(DNAH8):c.1963-13T>C
|
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|
NM_001206927.2(DNAH8):c.1963-17T>A
|
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NM_001206927.2(DNAH8):c.1992T>C (p.Ser664=)
|
|
|
NM_001206927.2(DNAH8):c.2040-18A>G
|
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|
NM_001206927.2(DNAH8):c.2058T>C (p.Ile686=)
|
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|
NM_001206927.2(DNAH8):c.2085C>T (p.His695=)
|
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|
NM_001206927.2(DNAH8):c.2127T>C (p.Asp709=)
|
|
|
NM_001206927.2(DNAH8):c.2139+16A>G
|
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|
NM_001206927.2(DNAH8):c.2181C>T (p.Asn727=)
|
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|
NM_001206927.2(DNAH8):c.2259+14T>C
|
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NM_001206927.2(DNAH8):c.2260-8A>C
|
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|
NM_001206927.2(DNAH8):c.2289C>T (p.Asp763=)
|
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|
NM_001206927.2(DNAH8):c.2328T>C (p.Tyr776=)
|
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|
NM_001206927.2(DNAH8):c.2364C>T (p.Ala788=)
|
|
|
NM_001206927.2(DNAH8):c.2388G>A (p.Leu796=)
|
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|
NM_001206927.2(DNAH8):c.2396-18A>G
|
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|
NM_001206927.2(DNAH8):c.2487T>C (p.Thr829=)
|
rs2127649096
|
|
NM_001206927.2(DNAH8):c.24C>A (p.Gly8=)
|
|
|
NM_001206927.2(DNAH8):c.2565A>G (p.Ala855=)
|
rs2127649289
|
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NM_001206927.2(DNAH8):c.2583+18T>A
|
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NM_001206927.2(DNAH8):c.2584-20G>A
|
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NM_001206927.2(DNAH8):c.2649C>T (p.Thr883=)
|
rs377274564
|
|
NM_001206927.2(DNAH8):c.2665-9C>T
|
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|
NM_001206927.2(DNAH8):c.2680A>C (p.Arg894=)
|
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|
NM_001206927.2(DNAH8):c.2685A>G (p.Gln895=)
|
rs878854273
|
|
NM_001206927.2(DNAH8):c.270G>A (p.Pro90=)
|
rs180723141
|
|
NM_001206927.2(DNAH8):c.2763C>T (p.Phe921=)
|
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|
NM_001206927.2(DNAH8):c.276G>T (p.Pro92=)
|
rs185117089
|
|
NM_001206927.2(DNAH8):c.2781+7T>G
|
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NM_001206927.2(DNAH8):c.2781+8C>G
|
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NM_001206927.2(DNAH8):c.2781+9T>C
|
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|
NM_001206927.2(DNAH8):c.2851C>T (p.Leu951=)
|
rs1554211685
|
|
NM_001206927.2(DNAH8):c.285A>G (p.Ser95=)
|
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NM_001206927.2(DNAH8):c.2892C>A (p.Thr964=)
|
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NM_001206927.2(DNAH8):c.301C>T (p.Leu101=)
|
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|
NM_001206927.2(DNAH8):c.3034+16A>C
|
rs2150297015
|
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NM_001206927.2(DNAH8):c.3117T>C (p.Phe1039=)
|
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|
NM_001206927.2(DNAH8):c.3150+13G>A
|
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NM_001206927.2(DNAH8):c.3150+15A>C
|
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NM_001206927.2(DNAH8):c.3150+15A>G
|
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NM_001206927.2(DNAH8):c.3189A>G (p.Leu1063=)
|
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|
NM_001206927.2(DNAH8):c.318C>T (p.Ser106=)
|
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|
NM_001206927.2(DNAH8):c.3257+12A>G
|
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NM_001206927.2(DNAH8):c.3257+16G>A
|
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|
NM_001206927.2(DNAH8):c.3327T>G (p.Pro1109=)
|
|
|
NM_001206927.2(DNAH8):c.3333+10A>G
|
rs1772039551
|
|
NM_001206927.2(DNAH8):c.3333+17A>G
|
|
|
NM_001206927.2(DNAH8):c.3333+18C>A
|
rs768718204
|
|
NM_001206927.2(DNAH8):c.3375C>T (p.Asn1125=)
|
rs1281084129
|
|
NM_001206927.2(DNAH8):c.339C>G (p.Arg113=)
|
|
|
NM_001206927.2(DNAH8):c.339C>T (p.Arg113=)
|
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|
NM_001206927.2(DNAH8):c.33T>G (p.Ser11=)
|
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|
NM_001206927.2(DNAH8):c.3523+15T>C
|
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|
NM_001206927.2(DNAH8):c.3573G>A (p.Pro1191=)
|
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|
NM_001206927.2(DNAH8):c.3585G>A (p.Glu1195=)
|
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|
NM_001206927.2(DNAH8):c.3660C>T (p.Ala1220=)
|
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|
NM_001206927.2(DNAH8):c.366A>G (p.Leu122=)
|
|
|
NM_001206927.2(DNAH8):c.3720+13T>C
|
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|
NM_001206927.2(DNAH8):c.3721-19G>T
|
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|
NM_001206927.2(DNAH8):c.3721-20T>G
|
|
|
NM_001206927.2(DNAH8):c.3847+17T>C
|
rs1773074751
|
|
NM_001206927.2(DNAH8):c.3847+19_3847+20insGA
|
|
|
NM_001206927.2(DNAH8):c.3847+8A>C
|
rs559665858
|
|
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.3906A>G (p.Arg1302=)
|
|
|
NM_001206927.2(DNAH8):c.3960T>C (p.Asn1320=)
|
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|
NM_001206927.2(DNAH8):c.4008C>A (p.Val1336=)
|
|
|
NM_001206927.2(DNAH8):c.4083+14G>C
|
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|
NM_001206927.2(DNAH8):c.4084-11T>C
|
|
|
NM_001206927.2(DNAH8):c.4189-12T>C
|
|
|
NM_001206927.2(DNAH8):c.4189-4G>A
|
|
|
NM_001206927.2(DNAH8):c.42A>C (p.Ala14=)
|
rs933123302
|
|
NM_001206927.2(DNAH8):c.4302+17C>G
|
|
|
NM_001206927.2(DNAH8):c.4353A>C (p.Leu1451=)
|
|
|
NM_001206927.2(DNAH8):c.4365+15T>C
|
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|
NM_001206927.2(DNAH8):c.4365+18T>A
|
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|
NM_001206927.2(DNAH8):c.4366-9T>C
|
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|
NM_001206927.2(DNAH8):c.4466+10G>C
|
|
|
NM_001206927.2(DNAH8):c.4467-15T>C
|
|
|
NM_001206927.2(DNAH8):c.4530T>C (p.Ser1510=)
|
rs1422849459
|
|
NM_001206927.2(DNAH8):c.4604+11A>G
|
|
|
NM_001206927.2(DNAH8):c.4695A>C (p.Leu1565=)
|
|
|
NM_001206927.2(DNAH8):c.4776G>A (p.Val1592=)
|
|
|
NM_001206927.2(DNAH8):c.4782T>C (p.Ser1594=)
|
rs1341087912
|
|
NM_001206927.2(DNAH8):c.4845+16C>T
|
|
|
NM_001206927.2(DNAH8):c.4983G>A (p.Ser1661=)
|
|
|
NM_001206927.2(DNAH8):c.5045+12dup
|
|
|
NM_001206927.2(DNAH8):c.5046-16C>T
|
|
|
NM_001206927.2(DNAH8):c.5055T>C (p.Ala1685=)
|
|
|
NM_001206927.2(DNAH8):c.5088T>C (p.Tyr1696=)
|
|
|
NM_001206927.2(DNAH8):c.5160C>T (p.Ala1720=)
|
|
|
NM_001206927.2(DNAH8):c.5199+12T>C
|
|
|
NM_001206927.2(DNAH8):c.525+12T>G
|
|
|
NM_001206927.2(DNAH8):c.5268C>T (p.Pro1756=)
|
|
|
NM_001206927.2(DNAH8):c.5271T>C (p.Asn1757=)
|
|
|
NM_001206927.2(DNAH8):c.5286T>C (p.Cys1762=)
|
|
|
NM_001206927.2(DNAH8):c.5298A>G (p.Glu1766=)
|
|
|
NM_001206927.2(DNAH8):c.5301C>G (p.Thr1767=)
|
|
|
NM_001206927.2(DNAH8):c.5364-14G>A
|
|
|
NM_001206927.2(DNAH8):c.5364-15C>T
|
|
|
NM_001206927.2(DNAH8):c.5409A>G (p.Val1803=)
|
rs1775752647
|
|
NM_001206927.2(DNAH8):c.5457C>T (p.His1819=)
|
|
|
NM_001206927.2(DNAH8):c.5466+11A>T
|
|
|
NM_001206927.2(DNAH8):c.5466+15T>C
|
|
|
NM_001206927.2(DNAH8):c.5467-13C>A
|
|
|
NM_001206927.2(DNAH8):c.5467-18T>C
|
|
|
NM_001206927.2(DNAH8):c.5469G>A (p.Pro1823=)
|
|
|
NM_001206927.2(DNAH8):c.5499T>C (p.Asn1833=)
|
|
|
NM_001206927.2(DNAH8):c.5544C>T (p.Val1848=)
|
|
|
NM_001206927.2(DNAH8):c.5550A>G (p.Ser1850=)
|
rs1554229084
|
|
NM_001206927.2(DNAH8):c.5571+15T>G
|
rs2150391602
|
|
NM_001206927.2(DNAH8):c.5617C>T (p.Leu1873=)
|
|
|
NM_001206927.2(DNAH8):c.5637G>A (p.Gln1879=)
|
|
|
NM_001206927.2(DNAH8):c.5643A>G (p.Ser1881=)
|
rs548987637
|
|
NM_001206927.2(DNAH8):c.5760G>A (p.Leu1920=)
|
|
|
NM_001206927.2(DNAH8):c.5766A>C (p.Thr1922=)
|
|
|
NM_001206927.2(DNAH8):c.5781G>A (p.Glu1927=)
|
|
|
NM_001206927.2(DNAH8):c.5802T>C (p.Asp1934=)
|
|
|
NM_001206927.2(DNAH8):c.5808G>A (p.Arg1936=)
|
rs867862598
|
|
NM_001206927.2(DNAH8):c.5823G>C (p.Val1941=)
|
|
|
NM_001206927.2(DNAH8):c.5907C>T (p.Phe1969=)
|
|
|
NM_001206927.2(DNAH8):c.5937G>A (p.Gln1979=)
|
|
|
NM_001206927.2(DNAH8):c.5958+10del
|
|
|
NM_001206927.2(DNAH8):c.5958+15T>C
|
rs2150401586
|
|
NM_001206927.2(DNAH8):c.6084A>G (p.Glu2028=)
|
rs2150406911
|
|
NM_001206927.2(DNAH8):c.611-13C>A
|
|
|
NM_001206927.2(DNAH8):c.6131+11C>T
|
|
|
NM_001206927.2(DNAH8):c.6131+18C>T
|
|
|
NM_001206927.2(DNAH8):c.6131+19G>T
|
rs527849962
|
|
NM_001206927.2(DNAH8):c.6131+24_6131+25dup
|
|
|
NM_001206927.2(DNAH8):c.6157T>C (p.Leu2053=)
|
|
|
NM_001206927.2(DNAH8):c.6311-14G>A
|
|
|
NM_001206927.2(DNAH8):c.6311-6T>C
|
|
|
NM_001206927.2(DNAH8):c.6324G>A (p.Ser2108=)
|
|
|
NM_001206927.2(DNAH8):c.6342T>C (p.Phe2114=)
|
|
|
NM_001206927.2(DNAH8):c.6373T>C (p.Leu2125=)
|
|
|
NM_001206927.2(DNAH8):c.6495G>T (p.Thr2165=)
|
rs1338999745
|
|
NM_001206927.2(DNAH8):c.6498+12G>A
|
|
|
NM_001206927.2(DNAH8):c.6507A>G (p.Gly2169=)
|
|
|
NM_001206927.2(DNAH8):c.6516G>A (p.Gly2172=)
|
|
|
NM_001206927.2(DNAH8):c.6528A>G (p.Leu2176=)
|
|
|
NM_001206927.2(DNAH8):c.6586-19T>C
|
rs372082500
|
|
NM_001206927.2(DNAH8):c.661T>C (p.Leu221=)
|
|
|
NM_001206927.2(DNAH8):c.6642T>C (p.Ala2214=)
|
|
|
NM_001206927.2(DNAH8):c.6693+12G>C
|
|
|
NM_001206927.2(DNAH8):c.6694-19C>T
|
rs1178485847
|
|
NM_001206927.2(DNAH8):c.6733T>C (p.Leu2245=)
|
|
|
NM_001206927.2(DNAH8):c.6738G>A (p.Arg2246=)
|
|
|
NM_001206927.2(DNAH8):c.6741T>A (p.Thr2247=)
|
|
|
NM_001206927.2(DNAH8):c.6753A>G (p.Gln2251=)
|
|
|
NM_001206927.2(DNAH8):c.6804A>G (p.Leu2268=)
|
|
|
NM_001206927.2(DNAH8):c.6828+10C>T
|
rs1341887992
|
|
NM_001206927.2(DNAH8):c.6828+17C>A
|
|
|
NM_001206927.2(DNAH8):c.6828+7_6828+8insGGAATA
|
|
|
NM_001206927.2(DNAH8):c.6855C>T (p.Leu2285=)
|
|
|
NM_001206927.2(DNAH8):c.6867T>C (p.Asn2289=)
|
|
|
NM_001206927.2(DNAH8):c.6906T>C (p.Tyr2302=)
|
|
|
NM_001206927.2(DNAH8):c.6957T>A (p.Ile2319=)
|
|
|
NM_001206927.2(DNAH8):c.6984C>T (p.Leu2328=)
|
|
|
NM_001206927.2(DNAH8):c.6990+17C>T
|
|
|
NM_001206927.2(DNAH8):c.6990+19A>G
|
rs2150428725
|
|
NM_001206927.2(DNAH8):c.6991-13G>C
|
|
|
NM_001206927.2(DNAH8):c.7023G>A (p.Leu2341=)
|
rs932781204
|
|
NM_001206927.2(DNAH8):c.7029T>A (p.Thr2343=)
|
|
|
NM_001206927.2(DNAH8):c.7104T>C (p.Pro2368=)
|
|
|
NM_001206927.2(DNAH8):c.7128A>G (p.Pro2376=)
|
|
|
NM_001206927.2(DNAH8):c.7245C>T (p.Asn2415=)
|
|
|
NM_001206927.2(DNAH8):c.72C>T (p.Ala24=)
|
|
|
NM_001206927.2(DNAH8):c.7302C>T (p.Ser2434=)
|
|
|
NM_001206927.2(DNAH8):c.7359C>T (p.Ala2453=)
|
|
|
NM_001206927.2(DNAH8):c.7386C>T (p.Val2462=)
|
|
|
NM_001206927.2(DNAH8):c.7470A>C (p.Pro2490=)
|
|
|
NM_001206927.2(DNAH8):c.7479+18GAA[4]
|
|
|
NM_001206927.2(DNAH8):c.7479+19A>G
|
|
|
NM_001206927.2(DNAH8):c.7524G>C (p.Leu2508=)
|
|
|
NM_001206927.2(DNAH8):c.7560A>G (p.Thr2520=)
|
|
|
NM_001206927.2(DNAH8):c.762+8del
|
rs752866956
|
|
NM_001206927.2(DNAH8):c.763-7C>A
|
rs1554196154
|
|
NM_001206927.2(DNAH8):c.7642T>C (p.Leu2548=)
|
|
|
NM_001206927.2(DNAH8):c.7677T>C (p.Cys2559=)
|
|
|
NM_001206927.2(DNAH8):c.768G>A (p.Ala256=)
|
|
|
NM_001206927.2(DNAH8):c.7731C>G (p.Ala2577=)
|
|
|
NM_001206927.2(DNAH8):c.7859-8T>C
|
|
|
NM_001206927.2(DNAH8):c.7863T>C (p.Asp2621=)
|
rs1554126747
|
|
NM_001206927.2(DNAH8):c.788C>A (p.Ala263Glu)
|
rs145115573
|
|
NM_001206927.2(DNAH8):c.8001+17G>A
|
|
|
NM_001206927.2(DNAH8):c.8001+19T>A
|
|
|
NM_001206927.2(DNAH8):c.8002-20C>T
|
|
|
NM_001206927.2(DNAH8):c.8043C>T (p.Val2681=)
|
|
|
NM_001206927.2(DNAH8):c.8059T>C (p.Leu2687=)
|
|
|
NM_001206927.2(DNAH8):c.8124A>G (p.Pro2708=)
|
rs1583269175
|
|
NM_001206927.2(DNAH8):c.8137-16G>A
|
|
|
NM_001206927.2(DNAH8):c.8137-17C>T
|
|
|
NM_001206927.2(DNAH8):c.8137-9_8137-7del
|
rs1554127096
|
|
NM_001206927.2(DNAH8):c.8142A>T (p.Thr2714=)
|
|
|
NM_001206927.2(DNAH8):c.8178A>G (p.Thr2726=)
|
|
|
NM_001206927.2(DNAH8):c.8259+11A>G
|
|
|
NM_001206927.2(DNAH8):c.8259+15T>C
|
rs1337591682
|
|
NM_001206927.2(DNAH8):c.8259+16C>T
|
|
|
NM_001206927.2(DNAH8):c.8259+7C>T
|
|
|
NM_001206927.2(DNAH8):c.8311T>C (p.Leu2771=)
|
rs1344469295
|
|
NM_001206927.2(DNAH8):c.8346T>C (p.Asp2782=)
|
|
|
NM_001206927.2(DNAH8):c.8358A>C (p.Ile2786=)
|
|
|
NM_001206927.2(DNAH8):c.8418A>G (p.Gln2806=)
|
|
|
NM_001206927.2(DNAH8):c.8454T>G (p.Ala2818=)
|
rs1403815470
|
|
NM_001206927.2(DNAH8):c.8460A>T (p.Ile2820=)
|
|
|
NM_001206927.2(DNAH8):c.84A>G (p.Ser28=)
|
|
|
NM_001206927.2(DNAH8):c.8514C>T (p.Phe2838=)
|
|
|
NM_001206927.2(DNAH8):c.8574A>G (p.Gln2858=)
|
|
|
NM_001206927.2(DNAH8):c.8583+11G>A
|
|
|
NM_001206927.2(DNAH8):c.8583+16T>C
|
|
|
NM_001206927.2(DNAH8):c.8584-12T>G
|
|
|
NM_001206927.2(DNAH8):c.8619C>T (p.Tyr2873=)
|
|
|
NM_001206927.2(DNAH8):c.8679G>A (p.Glu2893=)
|
|
|
NM_001206927.2(DNAH8):c.8721C>T (p.His2907=)
|
|
|
NM_001206927.2(DNAH8):c.8727C>T (p.Cys2909=)
|
|
|
NM_001206927.2(DNAH8):c.8747+4C>T
|
rs201261721
|
|
NM_001206927.2(DNAH8):c.8748-20C>G
|
|
|
NM_001206927.2(DNAH8):c.8748-4T>A
|
rs945592343
|
|
NM_001206927.2(DNAH8):c.8748-8C>T
|
|
|
NM_001206927.2(DNAH8):c.8769G>A (p.Glu2923=)
|
rs142674094
|
|
NM_001206927.2(DNAH8):c.8832G>A (p.Ser2944=)
|
|
|
NM_001206927.2(DNAH8):c.8832G>C (p.Ser2944=)
|
|
|
NM_001206927.2(DNAH8):c.8916T>C (p.Phe2972=)
|
|
|
NM_001206927.2(DNAH8):c.8940+13A>G
|
|
|
NM_001206927.2(DNAH8):c.8941-13_8941-10del
|
|
|
NM_001206927.2(DNAH8):c.8941-4A>G
|
rs1779833059
|
|
NM_001206927.2(DNAH8):c.8941-5C>T
|
|
|
NM_001206927.2(DNAH8):c.9015A>T (p.Thr3005=)
|
|
|
NM_001206927.2(DNAH8):c.9063+10A>G
|
|
|
NM_001206927.2(DNAH8):c.9063+14C>G
|
|
|
NM_001206927.2(DNAH8):c.9064-19G>A
|
|
|
NM_001206927.2(DNAH8):c.9111T>A (p.Gly3037=)
|
|
|
NM_001206927.2(DNAH8):c.9126A>G (p.Gly3042=)
|
rs1304105245
|
|
NM_001206927.2(DNAH8):c.9194+19C>T
|
|
|
NM_001206927.2(DNAH8):c.9195-14A>G
|
|
|
NM_001206927.2(DNAH8):c.9222T>C (p.Asp3074=)
|
|
|
NM_001206927.2(DNAH8):c.9237G>A (p.Leu3079=)
|
|
|
NM_001206927.2(DNAH8):c.9252T>A (p.Gly3084=)
|
rs2150520392
|
|
NM_001206927.2(DNAH8):c.9255T>C (p.Ala3085=)
|
|
|
NM_001206927.2(DNAH8):c.9348+7C>T
|
|
|
NM_001206927.2(DNAH8):c.9349-11A>G
|
|
|
NM_001206927.2(DNAH8):c.9349-7C>A
|
|
|
NM_001206927.2(DNAH8):c.9459A>G (p.Glu3153=)
|
|
|
NM_001206927.2(DNAH8):c.9486C>T (p.Asn3162=)
|
|
|
NM_001206927.2(DNAH8):c.9501C>T (p.Leu3167=)
|
|
|
NM_001206927.2(DNAH8):c.9513+7_9513+10del
|
|
|
NM_001206927.2(DNAH8):c.9514-20G>C
|
|
|
NM_001206927.2(DNAH8):c.953-6T>C
|
|
|
NM_001206927.2(DNAH8):c.9579C>T (p.Asp3193=)
|
|
|
NM_001206927.2(DNAH8):c.9600G>A (p.Arg3200=)
|
|
|
NM_001206927.2(DNAH8):c.9717G>A (p.Glu3239=)
|
|
|
NM_001206927.2(DNAH8):c.9740+13A>G
|
|
|
NM_001206927.2(DNAH8):c.9740+8A>G
|
|
|
NM_001206927.2(DNAH8):c.9741-13G>A
|
|
|
NM_001206927.2(DNAH8):c.9741-13G>T
|
|
|
NM_001206927.2(DNAH8):c.9741-14T>C
|
rs989642321
|
|
NM_001206927.2(DNAH8):c.9771A>G (p.Lys3257=)
|
|
|
NM_001206927.2(DNAH8):c.9792T>C (p.Asn3264=)
|
|
|
NM_001206927.2(DNAH8):c.9819G>A (p.Lys3273=)
|
rs267601018
|
|
NM_001206927.2(DNAH8):c.9840G>A (p.Gln3280=)
|
|
|
NM_001206927.2(DNAH8):c.9859+5_9859+9dup
|
|
|
NM_001206927.2(DNAH8):c.9860-11T>C
|
rs757770092
|
|
NM_001206927.2(DNAH8):c.9860-20A>G
|
|
|
NM_001206927.2(DNAH8):c.9960C>T (p.Asp3320=)
|
|
|
NM_001206927.2(DNAH8):c.9964-11C>G
|
|
|
NM_001206927.2(DNAH8):c.9964-20G>A
|
|
|
NM_001206927.2(DNAH8):c.999C>T (p.Asp333=)
|
|
|
NM_001206927.2(DNAH8):c.9G>A (p.Lys3=)
|
rs565853864
|
|
NM_001256715.1(DNAAF3):c.-98G>C
|
rs1188556854
|
|
NM_001256715.2(DNAAF3):c.-38G>A
|
|
|
NM_001256715.2(DNAAF3):c.-47G>A
|
|
|
NM_001256715.2(DNAAF3):c.-68G>C
|
|
|
NM_001256715.2(DNAAF3):c.1032G>A (p.Pro344=)
|
|
|
NM_001256715.2(DNAAF3):c.1048+12ACA[2]
|
rs764506535
|
|
NM_001256715.2(DNAAF3):c.1048+14_1048+15delinsTC
|
rs2147293871
|
|
NM_001256715.2(DNAAF3):c.114C>T (p.Ala38=)
|
|
|
NM_001256715.2(DNAAF3):c.1163+8G>A
|
|
|
NM_001256715.2(DNAAF3):c.1164-10C>G
|
rs2085781996
|
|
NM_001256715.2(DNAAF3):c.1164-5T>C
|
|
|
NM_001256715.2(DNAAF3):c.1164-8C>T
|
|
|
NM_001256715.2(DNAAF3):c.117T>C (p.Asp39=)
|
rs886054642
|
|
NM_001256715.2(DNAAF3):c.1182C>T (p.Ile394=)
|
|
|
NM_001256715.2(DNAAF3):c.1206A>T (p.Ala402=)
|
|
|
NM_001256715.2(DNAAF3):c.1219T>C (p.Leu407=)
|
|
|
NM_001256715.2(DNAAF3):c.1238+14G>A
|
|
|
NM_001256715.2(DNAAF3):c.1238+20G>A
|
|
|
NM_001256715.2(DNAAF3):c.1239-9_1239-8inv
|
|
|
NM_001256715.2(DNAAF3):c.123G>A (p.Val41=)
|
rs369454066
|
|
NM_001256715.2(DNAAF3):c.1255C>A (p.Arg419=)
|
|
|
NM_001256715.2(DNAAF3):c.1329C>T (p.Thr443=)
|
|
|
NM_001256715.2(DNAAF3):c.1368G>A (p.Lys456=)
|
rs1555865729
|
|
NM_001256715.2(DNAAF3):c.1395T>C (p.Thr465=)
|
|
|
NM_001256715.2(DNAAF3):c.1448T>C (p.Leu483Pro)
|
|
|
NM_001256715.2(DNAAF3):c.1494G>A (p.Gln498=)
|
rs1371987115
|
|
NM_001256715.2(DNAAF3):c.1509C>T (p.His503=)
|
|
|
NM_001256715.2(DNAAF3):c.1536G>A (p.Glu512=)
|
rs1060504731
|
|
NM_001256715.2(DNAAF3):c.1605A>G (p.Ser535=)
|
|
|
NM_001256715.2(DNAAF3):c.180G>T (p.Leu60=)
|
|
|
NM_001256715.2(DNAAF3):c.189C>A (p.Thr63=)
|
|
|
NM_001256715.2(DNAAF3):c.216C>A (p.Arg72=)
|
|
|
NM_001256715.2(DNAAF3):c.228+10G>A
|
rs528707553
|
|
NM_001256715.2(DNAAF3):c.243G>A (p.Glu81=)
|
rs1272525932
|
|
NM_001256715.2(DNAAF3):c.246T>C (p.Asn82=)
|
|
|
NM_001256715.2(DNAAF3):c.303G>A (p.Pro101=)
|
|
|
NM_001256715.2(DNAAF3):c.303G>C (p.Pro101=)
|
|
|
NM_001256715.2(DNAAF3):c.322+13_322+16del
|
rs2085920706
|
|
NM_001256715.2(DNAAF3):c.323-11TC[2]
|
|
|
NM_001256715.2(DNAAF3):c.323-5dup
|
|
|
NM_001256715.2(DNAAF3):c.323-6C>T
|
|
|
NM_001256715.2(DNAAF3):c.333G>A (p.Glu111=)
|
|
|
NM_001256715.2(DNAAF3):c.340C>T (p.Leu114=)
|
|
|
NM_001256715.2(DNAAF3):c.357C>T (p.Asn119=)
|
|
|
NM_001256715.2(DNAAF3):c.363G>C (p.Leu121=)
|
rs551100219
|
|
NM_001256715.2(DNAAF3):c.381C>T (p.Ala127=)
|
|
|
NM_001256715.2(DNAAF3):c.384C>T (p.Ala128=)
|
|
|
NM_001256715.2(DNAAF3):c.402C>T (p.Ala134=)
|
rs1056296743
|
|
NM_001256715.2(DNAAF3):c.432C>T (p.Pro144=)
|
rs1346019516
|
|
NM_001256715.2(DNAAF3):c.435C>T (p.Asp145=)
|
|
|
NM_001256715.2(DNAAF3):c.462C>T (p.Leu154=)
|
rs1599923335
|
|
NM_001256715.2(DNAAF3):c.481-8C>A
|
|
|
NM_001256715.2(DNAAF3):c.498C>T (p.Ala166=)
|
|
|
NM_001256715.2(DNAAF3):c.54C>A (p.Gly18=)
|
|
|
NM_001256715.2(DNAAF3):c.576G>A (p.Ser192=)
|
rs755044326
|
|
NM_001256715.2(DNAAF3):c.576G>C (p.Ser192=)
|
|
|
NM_001256715.2(DNAAF3):c.580C>T (p.Leu194=)
|
|
|
NM_001256715.2(DNAAF3):c.594G>C (p.Leu198=)
|
|
|
NM_001256715.2(DNAAF3):c.618C>T (p.Arg206=)
|
|
|
NM_001256715.2(DNAAF3):c.649C>T (p.Leu217=)
|
|
|
NM_001256715.2(DNAAF3):c.660C>T (p.Arg220=)
|
|
|
NM_001256715.2(DNAAF3):c.663+11C>G
|
|
|
NM_001256715.2(DNAAF3):c.663+20G>A
|
|
|
NM_001256715.2(DNAAF3):c.664-13C>T
|
|
|
NM_001256715.2(DNAAF3):c.664-8C>A
|
|
|
NM_001256715.2(DNAAF3):c.702G>A (p.Arg234=)
|
|
|
NM_001256715.2(DNAAF3):c.708A>G (p.Thr236=)
|
rs1253487279
|
|
NM_001256715.2(DNAAF3):c.72C>T (p.Asp24=)
|
|
|
NM_001256715.2(DNAAF3):c.771C>T (p.Ser257=)
|
rs1319853706
|
|
NM_001256715.2(DNAAF3):c.781C>T (p.Leu261=)
|
rs2147296328
|
|
NM_001256715.2(DNAAF3):c.783G>T (p.Leu261=)
|
|
|
NM_001256715.2(DNAAF3):c.790-12C>A
|
|
|
NM_001256715.2(DNAAF3):c.819C>T (p.Tyr273=)
|
rs755713483
|
|
NM_001256715.2(DNAAF3):c.837G>A (p.Thr279=)
|
|
|
NM_001256715.2(DNAAF3):c.85+10A>C
|
|
|
NM_001256715.2(DNAAF3):c.85+17A>G
|
|
|
NM_001256715.2(DNAAF3):c.855C>T (p.Phe285=)
|
|
|
NM_001256715.2(DNAAF3):c.86-62G>A
|
rs777155853
|
|
NM_001256715.2(DNAAF3):c.86-68T>C
|
|
|
NM_001256715.2(DNAAF3):c.86-68dup
|
rs775192993
|
|
NM_001256715.2(DNAAF3):c.86-70T>G
|
rs369434675
|
|
NM_001256715.2(DNAAF3):c.891G>C (p.Thr297=)
|
|
|
NM_001256715.2(DNAAF3):c.912+10G>A
|
|
|
NM_001256715.2(DNAAF3):c.912+13G>C
|
|
|
NM_001256715.2(DNAAF3):c.912+13del
|
|
|
NM_001256715.2(DNAAF3):c.912+7G>A
|
|
|
NM_001256715.2(DNAAF3):c.913-9T>C
|
|
|
NM_001256715.2(DNAAF3):c.915G>T (p.Thr305=)
|
rs886054640
|
|
NM_001256715.2(DNAAF3):c.918C>G (p.Ala306=)
|
|
|
NM_001256715.2(DNAAF3):c.918C>T (p.Ala306=)
|
|
|
NM_001256715.2(DNAAF3):c.936C>T (p.His312=)
|
rs1257841129
|
|
NM_001256715.2(DNAAF3):c.945G>A (p.Thr315=)
|
|
|
NM_001256715.2(DNAAF3):c.951G>C (p.Leu317=)
|
|
|
NM_001256715.2(DNAAF3):c.988A>G (p.Thr330Ala)
|
|
|
NM_001256715.2(DNAAF3):c.990C>T (p.Thr330=)
|
rs371092262
|
|
NM_001256715.2(DNAAF3):c.999C>T (p.Asp333=)
|
|
|
NM_001256715.2(DNAAF3):c.9A>G (p.Thr3=)
|
|
|
NM_001277115.2(DNAH11):c.10002A>G (p.Leu3334=)
|
|
|
NM_001277115.2(DNAH11):c.10005G>A (p.Glu3335=)
|
|
|
NM_001277115.2(DNAH11):c.10012A>T (p.Arg3338Trp)
|
|
|
NM_001277115.2(DNAH11):c.10026+12C>G
|
|
|
NM_001277115.2(DNAH11):c.10026+12C>T
|
|
|
NM_001277115.2(DNAH11):c.10026+14A>C
|
|
|
NM_001277115.2(DNAH11):c.10026+14A>G
|
rs768160240
|
|
NM_001277115.2(DNAH11):c.10026+17A>G
|
|
|
NM_001277115.2(DNAH11):c.10026+18C>G
|
|
|
NM_001277115.2(DNAH11):c.10026+19A>G
|
|
|
NM_001277115.2(DNAH11):c.10026+20T>C
|
|
|
NM_001277115.2(DNAH11):c.10026+7G>A
|
|
|
NM_001277115.2(DNAH11):c.10026+7G>C
|
|
|
NM_001277115.2(DNAH11):c.10026+8C>A
|
|
|
NM_001277115.2(DNAH11):c.10027-12A>C
|
|
|
NM_001277115.2(DNAH11):c.10027-12A>T
|
|
|
NM_001277115.2(DNAH11):c.10027-14C>G
|
|
|
NM_001277115.2(DNAH11):c.10027-18A>C
|
|
|
NM_001277115.2(DNAH11):c.10027-4T>G
|
|
|
NM_001277115.2(DNAH11):c.10027-6A>C
|
|
|
NM_001277115.2(DNAH11):c.10027-6A>G
|
|
|
NM_001277115.2(DNAH11):c.10027-7G>T
|
|
|
NM_001277115.2(DNAH11):c.10035T>G (p.Asp3345Glu)
|
|
|
NM_001277115.2(DNAH11):c.10051C>T (p.Leu3351Phe)
|
|
|
NM_001277115.2(DNAH11):c.10056G>T (p.Thr3352=)
|
|
|
NM_001277115.2(DNAH11):c.10062A>T (p.Ser3354=)
|
|
|
NM_001277115.2(DNAH11):c.10067A>G (p.Glu3356Gly)
|
|
|
NM_001277115.2(DNAH11):c.10091G>T (p.Arg3364Leu)
|
rs369682703
|
|
NM_001277115.2(DNAH11):c.10094G>A (p.Cys3365Tyr)
|
|
|
NM_001277115.2(DNAH11):c.10125C>T (p.Thr3375=)
|
|
|
NM_001277115.2(DNAH11):c.10128C>G (p.Ile3376Met)
|
|
|
NM_001277115.2(DNAH11):c.10133T>C (p.Leu3378Ser)
|
|
|
NM_001277115.2(DNAH11):c.10136C>T (p.Ala3379Val)
|
|
|
NM_001277115.2(DNAH11):c.10138A>G (p.Asn3380Asp)
|
|
|
NM_001277115.2(DNAH11):c.10144C>T (p.Leu3382Phe)
|
|
|
NM_001277115.2(DNAH11):c.10165+18A>T
|
|
|
NM_001277115.2(DNAH11):c.10165+19A>C
|
|
|
NM_001277115.2(DNAH11):c.10165+19A>G
|
|
|
NM_001277115.2(DNAH11):c.10165+20A>G
|
|
|
NM_001277115.2(DNAH11):c.10165+8C>A
|
|
|
NM_001277115.2(DNAH11):c.10166-11C>T
|
|
|
NM_001277115.2(DNAH11):c.10166-13A>G
|
|
|
NM_001277115.2(DNAH11):c.10166-17T>C
|
|
|
NM_001277115.2(DNAH11):c.10166-7C>T
|
|
|
NM_001277115.2(DNAH11):c.10175G>A (p.Arg3392His)
|
|
|
NM_001277115.2(DNAH11):c.10180G>T (p.Gly3394Cys)
|
|
|
NM_001277115.2(DNAH11):c.10183C>A (p.Gln3395Lys)
|
|
|
NM_001277115.2(DNAH11):c.10197C>A (p.Ser3399=)
|
|
|
NM_001277115.2(DNAH11):c.10209A>G (p.Gln3403=)
|
rs763819043
|
|
NM_001277115.2(DNAH11):c.10219C>G (p.Leu3407Val)
|
|
|
NM_001277115.2(DNAH11):c.10233T>A (p.Val3411=)
|
|
|
NM_001277115.2(DNAH11):c.10236T>A (p.Leu3412=)
|
|
|
NM_001277115.2(DNAH11):c.10239C>T (p.Leu3413=)
|
|
|
NM_001277115.2(DNAH11):c.1023T>C (p.Pro341=)
|
|
|
NM_001277115.2(DNAH11):c.10242G>A (p.Thr3414=)
|
|
|
NM_001277115.2(DNAH11):c.10242G>C (p.Thr3414=)
|
rs559218045
|
|
NM_001277115.2(DNAH11):c.10242G>T (p.Thr3414=)
|
|
|
NM_001277115.2(DNAH11):c.10244C>T (p.Ala3415Val)
|
|
|
NM_001277115.2(DNAH11):c.10245G>T (p.Ala3415=)
|
|
|
NM_001277115.2(DNAH11):c.10260C>T (p.Tyr3420=)
|
|
|
NM_001277115.2(DNAH11):c.10263C>G (p.Val3421=)
|
|
|
NM_001277115.2(DNAH11):c.10263C>T (p.Val3421=)
|
|
|
NM_001277115.2(DNAH11):c.10269C>G (p.Pro3423=)
|
|
|
NM_001277115.2(DNAH11):c.10275A>G (p.Thr3425=)
|
|
|
NM_001277115.2(DNAH11):c.10287C>T (p.Arg3429=)
|
rs2127996493
|
|
NM_001277115.2(DNAH11):c.10289A>G (p.Gln3430Arg)
|
|
|
NM_001277115.2(DNAH11):c.10293G>A (p.Glu3431=)
|
|
|
NM_001277115.2(DNAH11):c.10294C>T (p.Leu3432=)
|
|
|
NM_001277115.2(DNAH11):c.10296G>A (p.Leu3432=)
|
|
|
NM_001277115.2(DNAH11):c.10312G>T (p.Val3438Phe)
|
|
|
NM_001277115.2(DNAH11):c.10332+10G>C
|
|
|
NM_001277115.2(DNAH11):c.10332+13C>G
|
|
|
NM_001277115.2(DNAH11):c.10332+18C>A
|
|
|
NM_001277115.2(DNAH11):c.10332+19C>G
|
|
|
NM_001277115.2(DNAH11):c.10332+20T>C
|
|
|
NM_001277115.2(DNAH11):c.10333-10G>A
|
|
|
NM_001277115.2(DNAH11):c.10333-13T>A
|
|
|
NM_001277115.2(DNAH11):c.10333-17C>T
|
|
|
NM_001277115.2(DNAH11):c.10333-19T>C
|
|
|
NM_001277115.2(DNAH11):c.10333-20A>G
|
|
|
NM_001277115.2(DNAH11):c.10333-5T>G
|
|
|
NM_001277115.2(DNAH11):c.10333-6T>G
|
|
|
NM_001277115.2(DNAH11):c.10344A>G (p.Pro3448=)
|
|
|
NM_001277115.2(DNAH11):c.10350C>T (p.Thr3450=)
|
|
|
NM_001277115.2(DNAH11):c.10356C>A (p.Gly3452=)
|
|
|
NM_001277115.2(DNAH11):c.10357C>T (p.Leu3453=)
|
|
|
NM_001277115.2(DNAH11):c.1035C>A (p.His345Gln)
|
rs139391790
|
|
NM_001277115.2(DNAH11):c.10371C>G (p.Ser3457=)
|
|
|
NM_001277115.2(DNAH11):c.10371C>T (p.Ser3457=)
|
|
|
NM_001277115.2(DNAH11):c.10374G>A (p.Met3458Ile)
|
|
|
NM_001277115.2(DNAH11):c.10377G>A (p.Leu3459=)
|
|
|
NM_001277115.2(DNAH11):c.10379C>A (p.Thr3460Lys)
|
rs573384750
|
|
NM_001277115.2(DNAH11):c.10383T>C (p.Asp3461=)
|
|
|
NM_001277115.2(DNAH11):c.10401C>A (p.Ala3467=)
|
|
|
NM_001277115.2(DNAH11):c.10410C>T (p.Asn3470=)
|
|
|
NM_001277115.2(DNAH11):c.10437C>T (p.Ser3479=)
|
|
|
NM_001277115.2(DNAH11):c.10440C>A (p.Thr3480=)
|
|
|
NM_001277115.2(DNAH11):c.10440C>G (p.Thr3480=)
|
|
|
NM_001277115.2(DNAH11):c.10453A>G (p.Ile3485Val)
|
|
|
NM_001277115.2(DNAH11):c.10454T>C (p.Ile3485Thr)
|
|
|
NM_001277115.2(DNAH11):c.10456C>T (p.Leu3486=)
|
|
|
NM_001277115.2(DNAH11):c.10458A>G (p.Leu3486=)
|
|
|
NM_001277115.2(DNAH11):c.10464C>G (p.His3488Gln)
|
|
|
NM_001277115.2(DNAH11):c.10464C>T (p.His3488=)
|
|
|
NM_001277115.2(DNAH11):c.10473C>T (p.Arg3491=)
|
|
|
NM_001277115.2(DNAH11):c.10479T>G (p.Pro3493=)
|
|
|
NM_001277115.2(DNAH11):c.10482G>T (p.Leu3494=)
|
|
|
NM_001277115.2(DNAH11):c.10497G>A (p.Gln3499=)
|
|
|
NM_001277115.2(DNAH11):c.10500A>G (p.Gln3500=)
|
|
|
NM_001277115.2(DNAH11):c.10502A>T (p.Gln3501Leu)
|
|
|
NM_001277115.2(DNAH11):c.1050G>A (p.Gln350=)
|
|
|
NM_001277115.2(DNAH11):c.10511A>C (p.Lys3504Thr)
|
|
|
NM_001277115.2(DNAH11):c.10515G>T (p.Trp3505Cys)
|
|
|
NM_001277115.2(DNAH11):c.10530T>C (p.Tyr3510=)
|
|
|
NM_001277115.2(DNAH11):c.10535T>G (p.Met3512Arg)
|
|
|
NM_001277115.2(DNAH11):c.10568+11T>C
|
|
|
NM_001277115.2(DNAH11):c.10568+7G>A
|
|
|
NM_001277115.2(DNAH11):c.10569-12C>A
|
|
|
NM_001277115.2(DNAH11):c.10569-22_10569-16del
|
|
|
NM_001277115.2(DNAH11):c.10573T>C (p.Leu3525=)
|
rs886062182
|
|
NM_001277115.2(DNAH11):c.10574T>C (p.Leu3525Ser)
|
|
|
NM_001277115.2(DNAH11):c.10579G>A (p.Ala3527Thr)
|
|
|
NM_001277115.2(DNAH11):c.10599C>G (p.Ala3533=)
|
|
|
NM_001277115.2(DNAH11):c.105C>A (p.Leu35=)
|
|
|
NM_001277115.2(DNAH11):c.105C>T (p.Leu35=)
|
|
|
NM_001277115.2(DNAH11):c.10611C>A (p.Val3537=)
|
|
|
NM_001277115.2(DNAH11):c.10611C>T (p.Val3537=)
|
rs2128000792
|
|
NM_001277115.2(DNAH11):c.10620T>A (p.Ile3540=)
|
rs1554284618
|
|
NM_001277115.2(DNAH11):c.10641A>T (p.Ile3547=)
|
|
|
NM_001277115.2(DNAH11):c.10648G>C (p.Val3550Leu)
|
|
|
NM_001277115.2(DNAH11):c.10653G>T (p.Leu3551=)
|
|
|
NM_001277115.2(DNAH11):c.10659A>T (p.Pro3553=)
|
|
|
NM_001277115.2(DNAH11):c.10662A>G (p.Leu3554=)
|
|
|
NM_001277115.2(DNAH11):c.10674C>T (p.Asn3558=)
|
|
|
NM_001277115.2(DNAH11):c.10691+11T>C
|
|
|
NM_001277115.2(DNAH11):c.10691+12T>A
|
|
|
NM_001277115.2(DNAH11):c.10691+12del
|
|
|
NM_001277115.2(DNAH11):c.10691+15A>G
|
|
|
NM_001277115.2(DNAH11):c.10691+19T>C
|
|
|
NM_001277115.2(DNAH11):c.10691+20T>C
|
rs2128000860
|
|
NM_001277115.2(DNAH11):c.10691+8T>G
|
|
|
NM_001277115.2(DNAH11):c.10692-16G>T
|
rs886038456
|
|
NM_001277115.2(DNAH11):c.10692-18G>A
|
|
|
NM_001277115.2(DNAH11):c.10692-6G>A
|
|
|
NM_001277115.2(DNAH11):c.10692-6G>C
|
|
|
NM_001277115.2(DNAH11):c.10692-8C>T
|
|
|
NM_001277115.2(DNAH11):c.10696A>G (p.Ile3566Val)
|
|
|
NM_001277115.2(DNAH11):c.10703T>G (p.Ile3568Ser)
|
|
|
NM_001277115.2(DNAH11):c.10710T>C (p.Asp3570=)
|
|
|
NM_001277115.2(DNAH11):c.1071A>C (p.Thr357=)
|
|
|
NM_001277115.2(DNAH11):c.1071A>G (p.Thr357=)
|
rs1026108125
|
|
NM_001277115.2(DNAH11):c.10734C>T (p.Asn3578=)
|
|
|
NM_001277115.2(DNAH11):c.10738C>T (p.Arg3580Cys)
|
|
|
NM_001277115.2(DNAH11):c.1073G>A (p.Arg358His)
|
|
|
NM_001277115.2(DNAH11):c.1073G>T (p.Arg358Leu)
|
|
|
NM_001277115.2(DNAH11):c.10746C>G (p.Ile3582Met)
|
|
|
NM_001277115.2(DNAH11):c.10748T>C (p.Leu3583Pro)
|
|
|
NM_001277115.2(DNAH11):c.10749T>C (p.Leu3583=)
|
|
|
NM_001277115.2(DNAH11):c.10752C>T (p.His3584=)
|
|
|
NM_001277115.2(DNAH11):c.10755A>G (p.Thr3585=)
|
|
|
NM_001277115.2(DNAH11):c.10759T>C (p.Leu3587=)
|
|
|
NM_001277115.2(DNAH11):c.10764A>G (p.Ala3588=)
|
|
|
NM_001277115.2(DNAH11):c.10765A>T (p.Asn3589Tyr)
|
|
|
NM_001277115.2(DNAH11):c.10768C>G (p.Pro3590Ala)
|
|
|
NM_001277115.2(DNAH11):c.10779G>A (p.Lys3593=)
|
|
|
NM_001277115.2(DNAH11):c.1077A>G (p.Ile359Met)
|
|
|
NM_001277115.2(DNAH11):c.10781C>T (p.Pro3594Leu)
|
|
|
NM_001277115.2(DNAH11):c.10788A>G (p.Leu3596=)
|
|
|
NM_001277115.2(DNAH11):c.10797G>A (p.Gln3599=)
|
|
|
NM_001277115.2(DNAH11):c.10797G>T (p.Gln3599His)
|
|
|
NM_001277115.2(DNAH11):c.10800A>T (p.Thr3600=)
|
|
|
NM_001277115.2(DNAH11):c.10804C>G (p.Leu3602Val)
|
|
|
NM_001277115.2(DNAH11):c.10804C>T (p.Leu3602Phe)
|
|
|
NM_001277115.2(DNAH11):c.10817C>T (p.Thr3606Ile)
|
|
|
NM_001277115.2(DNAH11):c.10821C>T (p.Val3607=)
|
|
|
NM_001277115.2(DNAH11):c.10829A>G (p.Asp3610Gly)
|
|
|
NM_001277115.2(DNAH11):c.1083C>A (p.Ile361=)
|
|
|
NM_001277115.2(DNAH11):c.10845G>A (p.Gln3615=)
|
|
|
NM_001277115.2(DNAH11):c.1084G>C (p.Ala362Pro)
|
rs771256529
|
|
NM_001277115.2(DNAH11):c.10851G>A (p.Leu3617=)
|
|
|
NM_001277115.2(DNAH11):c.10857G>A (p.Glu3619=)
|
|
|
NM_001277115.2(DNAH11):c.10896+12T>A
|
|
|
NM_001277115.2(DNAH11):c.10896+12del
|
|
|
NM_001277115.2(DNAH11):c.10896+14C>T
|
|
|
NM_001277115.2(DNAH11):c.10896+15G>A
|
|
|
NM_001277115.2(DNAH11):c.10896+16T>A
|
|
|
NM_001277115.2(DNAH11):c.10896+17C>T
|
|
|
NM_001277115.2(DNAH11):c.10896+18A>C
|
|
|
NM_001277115.2(DNAH11):c.10897-14T>C
|
|
|
NM_001277115.2(DNAH11):c.10897-15C>G
|
|
|
NM_001277115.2(DNAH11):c.10897-17T>G
|
rs777407598
|
|
NM_001277115.2(DNAH11):c.10897-5A>G
|
rs746604716
|
|
NM_001277115.2(DNAH11):c.1089A>G (p.Pro363=)
|
|
|
NM_001277115.2(DNAH11):c.10903T>C (p.Leu3635=)
|
|
|
NM_001277115.2(DNAH11):c.10917A>G (p.Gln3639=)
|
|
|
NM_001277115.2(DNAH11):c.10947G>A (p.Leu3649=)
|
|
|
NM_001277115.2(DNAH11):c.10963T>C (p.Leu3655=)
|
rs1348999489
|
|
NM_001277115.2(DNAH11):c.10966C>T (p.Arg3656Cys)
|
|
|
NM_001277115.2(DNAH11):c.10976C>A (p.Ala3659Glu)
|
|
|
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=)
|
|
|
NM_001277115.2(DNAH11):c.11003C>T (p.Thr3668Ile)
|
|
|
NM_001277115.2(DNAH11):c.11007A>G (p.Lys3669=)
|
|
|
NM_001277115.2(DNAH11):c.11010G>C (p.Leu3670=)
|
|
|
NM_001277115.2(DNAH11):c.11022G>A (p.Leu3674=)
|
|
|
NM_001277115.2(DNAH11):c.11026G>A (p.Ala3676Thr)
|
|
|
NM_001277115.2(DNAH11):c.11040C>G (p.Thr3680=)
|
|
|
NM_001277115.2(DNAH11):c.11040C>T (p.Thr3680=)
|
|
|
NM_001277115.2(DNAH11):c.11043G>A (p.Val3681=)
|
|
|
NM_001277115.2(DNAH11):c.1104C>T (p.Ile368=)
|
|
|
NM_001277115.2(DNAH11):c.11061+20C>T
|
|
|
NM_001277115.2(DNAH11):c.11062-10C>T
|
|
|
NM_001277115.2(DNAH11):c.11062-13G>C
|
|
|
NM_001277115.2(DNAH11):c.11062-4A>G
|
|
|
NM_001277115.2(DNAH11):c.11085A>G (p.Glu3695=)
|
|
|
NM_001277115.2(DNAH11):c.1108C>T (p.Leu370=)
|
|
|
NM_001277115.2(DNAH11):c.11094C>A (p.Ile3698=)
|
|
|
NM_001277115.2(DNAH11):c.11096A>G (p.Asn3699Ser)
|
|
|
NM_001277115.2(DNAH11):c.11097C>T (p.Asn3699=)
|
|
|
NM_001277115.2(DNAH11):c.11098G>A (p.Glu3700Lys)
|
|
|
NM_001277115.2(DNAH11):c.11104C>A (p.Arg3702=)
|
|
|
NM_001277115.2(DNAH11):c.11136A>T (p.Ala3712=)
|
|
|
NM_001277115.2(DNAH11):c.1113C>T (p.Ile371=)
|
rs764398699
|
|
NM_001277115.2(DNAH11):c.11157T>A (p.Ile3719=)
|
|
|
NM_001277115.2(DNAH11):c.11172A>G (p.Lys3724=)
|
|
|
NM_001277115.2(DNAH11):c.11179C>T (p.Pro3727Ser)
|
|
|
NM_001277115.2(DNAH11):c.11181C>T (p.Pro3727=)
|
|
|
NM_001277115.2(DNAH11):c.11196T>C (p.Ser3732=)
|
|
|
NM_001277115.2(DNAH11):c.1119T>C (p.Ser373=)
|
rs1157040937
|
|
NM_001277115.2(DNAH11):c.11202+20G>C
|
|
|
NM_001277115.2(DNAH11):c.11202+7C>A
|
rs73279826
|
|
NM_001277115.2(DNAH11):c.11202+7C>G
|
|
|
NM_001277115.2(DNAH11):c.11202+7_11202+9del
|
|
|
NM_001277115.2(DNAH11):c.11203-12T>C
|
|
|
NM_001277115.2(DNAH11):c.11203-14A>G
|
|
|
NM_001277115.2(DNAH11):c.11203-20G>A
|
|
|
NM_001277115.2(DNAH11):c.11203-6T>C
|
|
|
NM_001277115.2(DNAH11):c.11212G>A (p.Val3738Met)
|
|
|
NM_001277115.2(DNAH11):c.11229G>T (p.Ala3743=)
|
|
|
NM_001277115.2(DNAH11):c.11232C>T (p.Ile3744=)
|
|
|
NM_001277115.2(DNAH11):c.11241T>C (p.Ala3747=)
|
|
|
NM_001277115.2(DNAH11):c.11270T>A (p.Ile3757Asn)
|
|
|
NM_001277115.2(DNAH11):c.11280G>A (p.Leu3760=)
|
|
|
NM_001277115.2(DNAH11):c.11289C>T (p.Ser3763=)
|
|
|
NM_001277115.2(DNAH11):c.11295C>G (p.Thr3765=)
|
|
|
NM_001277115.2(DNAH11):c.11304C>G (p.Val3768=)
|
|
|
NM_001277115.2(DNAH11):c.11307C>T (p.Phe3769=)
|
|
|
NM_001277115.2(DNAH11):c.11313C>T (p.Tyr3771=)
|
rs760594586
|
|
NM_001277115.2(DNAH11):c.11316C>T (p.Thr3772=)
|
rs2128030845
|
|
NM_001277115.2(DNAH11):c.11324C>T (p.Ala3775Val)
|
|
|
NM_001277115.2(DNAH11):c.11337G>A (p.Lys3779=)
|
|
|
NM_001277115.2(DNAH11):c.11352C>T (p.Phe3784=)
|
|
|
NM_001277115.2(DNAH11):c.11358C>T (p.Ser3786=)
|
|
|
NM_001277115.2(DNAH11):c.11367T>C (p.Ala3789=)
|
|
|
NM_001277115.2(DNAH11):c.11373+11C>T
|
|
|
NM_001277115.2(DNAH11):c.11373+16A>G
|
|
|
NM_001277115.2(DNAH11):c.11373+6_11373+8del
|
|
|
NM_001277115.2(DNAH11):c.11373+7A>T
|
|
|
NM_001277115.2(DNAH11):c.11374-10T>C
|
|
|
NM_001277115.2(DNAH11):c.11374-11C>G
|
|
|
NM_001277115.2(DNAH11):c.11374-4C>G
|
|
|
NM_001277115.2(DNAH11):c.11376T>C (p.Ile3792=)
|
|
|
NM_001277115.2(DNAH11):c.11379G>A (p.Leu3793=)
|
|
|
NM_001277115.2(DNAH11):c.11379G>T (p.Leu3793Phe)
|
|
|
NM_001277115.2(DNAH11):c.11385A>G (p.Arg3795=)
|
|
|
NM_001277115.2(DNAH11):c.11389A>G (p.Lys3797Glu)
|
|
|
NM_001277115.2(DNAH11):c.11391A>G (p.Lys3797=)
|
|
|
NM_001277115.2(DNAH11):c.11399A>G (p.Asp3800Gly)
|
|
|
NM_001277115.2(DNAH11):c.11404C>G (p.Leu3802Val)
|
|
|
NM_001277115.2(DNAH11):c.11410T>C (p.Leu3804=)
|
rs760818521
|
|
NM_001277115.2(DNAH11):c.11437G>C (p.Glu3813Gln)
|
|
|
NM_001277115.2(DNAH11):c.11448T>C (p.His3816=)
|
|
|
NM_001277115.2(DNAH11):c.11449C>T (p.Leu3817=)
|
rs902179397
|
|
NM_001277115.2(DNAH11):c.11454T>C (p.Ser3818=)
|
|
|
NM_001277115.2(DNAH11):c.11469A>C (p.Leu3823=)
|
|
|
NM_001277115.2(DNAH11):c.11496+13T>A
|
|
|
NM_001277115.2(DNAH11):c.11496+15C>T
|
|
|
NM_001277115.2(DNAH11):c.11496+15_11496+16del
|
|
|
NM_001277115.2(DNAH11):c.11496+16A>G
|
|
|
NM_001277115.2(DNAH11):c.11496+20T>C
|
|
|
NM_001277115.2(DNAH11):c.11496+7T>G
|
|
|
NM_001277115.2(DNAH11):c.11496+9G>A
|
|
|
NM_001277115.2(DNAH11):c.11497-12A>G
|
|
|
NM_001277115.2(DNAH11):c.11497-16C>A
|
|
|
NM_001277115.2(DNAH11):c.11497-17T>G
|
|
|
NM_001277115.2(DNAH11):c.11497-20G>T
|
|
|
NM_001277115.2(DNAH11):c.11497-5T>C
|
|
|
NM_001277115.2(DNAH11):c.11497-7A>G
|
|
|
NM_001277115.2(DNAH11):c.11497-9A>G
|
|
|
NM_001277115.2(DNAH11):c.11499A>G (p.Ala3833=)
|
|
|
NM_001277115.2(DNAH11):c.1149G>A (p.Arg383=)
|
|
|
NM_001277115.2(DNAH11):c.11504C>T (p.Ala3835Val)
|
|
|
NM_001277115.2(DNAH11):c.11505C>T (p.Ala3835=)
|
|
|
NM_001277115.2(DNAH11):c.11508C>A (p.Val3836=)
|
|
|
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)
|
|
|
NM_001277115.2(DNAH11):c.11523A>G (p.Arg3841=)
|
|
|
NM_001277115.2(DNAH11):c.11529A>T (p.Ile3843=)
|
|
|
NM_001277115.2(DNAH11):c.1152T>A (p.Val384=)
|
rs1162033530
|
|
NM_001277115.2(DNAH11):c.11534G>T (p.Arg3845Leu)
|
rs371438607
|
|
NM_001277115.2(DNAH11):c.1155A>T (p.Ile385=)
|
|
|
NM_001277115.2(DNAH11):c.11572G>A (p.Val3858Ile)
|
rs769064243
|
|
NM_001277115.2(DNAH11):c.11580C>A (p.Ser3860=)
|
|
|
NM_001277115.2(DNAH11):c.11600A>C (p.Lys3867Thr)
|
|
|
NM_001277115.2(DNAH11):c.11602T>A (p.Leu3868Ile)
|
|
|
NM_001277115.2(DNAH11):c.11610A>G (p.Gln3870=)
|
|
|
NM_001277115.2(DNAH11):c.11619G>A (p.Lys3873=)
|
|
|
NM_001277115.2(DNAH11):c.11628T>C (p.Ser3876=)
|
|
|
NM_001277115.2(DNAH11):c.11631A>G (p.Leu3877=)
|
|
|
NM_001277115.2(DNAH11):c.11636A>C (p.Gln3879Pro)
|
|
|
NM_001277115.2(DNAH11):c.11643G>C (p.Leu3881=)
|
|
|
NM_001277115.2(DNAH11):c.11658A>C (p.Ala3886=)
|
|
|
NM_001277115.2(DNAH11):c.1165C>G (p.Gln389Glu)
|
|
|
NM_001277115.2(DNAH11):c.11674A>G (p.Met3892Val)
|
|
|
NM_001277115.2(DNAH11):c.11678C>A (p.Thr3893Lys)
|
|
|
NM_001277115.2(DNAH11):c.1167A>G (p.Gln389=)
|
|
|
NM_001277115.2(DNAH11):c.11685T>C (p.Ala3895=)
|
|
|
NM_001277115.2(DNAH11):c.1168G>A (p.Glu390Lys)
|
|
|
NM_001277115.2(DNAH11):c.11690+13G>T
|
|
|
NM_001277115.2(DNAH11):c.11690+14C>G
|
|
|
NM_001277115.2(DNAH11):c.11690+15A>G
|
|
|
NM_001277115.2(DNAH11):c.11690+9G>T
|
|
|
NM_001277115.2(DNAH11):c.11691-19A>T
|
|
|
NM_001277115.2(DNAH11):c.11691-6T>C
|
rs2128034916
|
|
NM_001277115.2(DNAH11):c.11691-8T>C
|
|
|
NM_001277115.2(DNAH11):c.11706A>G (p.Glu3902=)
|
|
|
NM_001277115.2(DNAH11):c.11709A>G (p.Lys3903=)
|
|
|
NM_001277115.2(DNAH11):c.11710C>T (p.Leu3904=)
|
|
|
NM_001277115.2(DNAH11):c.11715T>C (p.Gly3905=)
|
|
|
NM_001277115.2(DNAH11):c.11718G>A (p.Ala3906=)
|
rs755196801
|
|
NM_001277115.2(DNAH11):c.11718G>T (p.Ala3906=)
|
|
|
NM_001277115.2(DNAH11):c.11727G>A (p.Val3909=)
|
|
|
NM_001277115.2(DNAH11):c.11736C>A (p.Thr3912=)
|
|
|
NM_001277115.2(DNAH11):c.11748A>G (p.Leu3916=)
|
|
|
NM_001277115.2(DNAH11):c.11760C>T (p.Phe3920=)
|
|
|
NM_001277115.2(DNAH11):c.11767A>G (p.Ser3923Gly)
|
|
|
NM_001277115.2(DNAH11):c.11782C>A (p.Pro3928Thr)
|
|
|
NM_001277115.2(DNAH11):c.11811A>C (p.Val3937=)
|
rs1288573843
|
|
NM_001277115.2(DNAH11):c.11826C>T (p.Asp3942=)
|
|
|
NM_001277115.2(DNAH11):c.11839+15G>A
|
|
|
NM_001277115.2(DNAH11):c.11839+16G>T
|
|
|
NM_001277115.2(DNAH11):c.11839+17C>T
|
|
|
NM_001277115.2(DNAH11):c.11839+19C>G
|
|
|
NM_001277115.2(DNAH11):c.11839+19C>T
|
|
|
NM_001277115.2(DNAH11):c.11839+20G>A
|
|
|
NM_001277115.2(DNAH11):c.11839+20G>C
|
|
|
NM_001277115.2(DNAH11):c.11839+8G>C
|
|
|
NM_001277115.2(DNAH11):c.11839+9del
|
|
|
NM_001277115.2(DNAH11):c.11840-19G>A
|
|
|
NM_001277115.2(DNAH11):c.11840-19G>T
|
|
|
NM_001277115.2(DNAH11):c.11840-7C>T
|
|
|
NM_001277115.2(DNAH11):c.11840-9C>G
|
|
|
NM_001277115.2(DNAH11):c.11844A>T (p.Lys3948Asn)
|
|
|
NM_001277115.2(DNAH11):c.11850T>G (p.Leu3950=)
|
|
|
NM_001277115.2(DNAH11):c.11870G>C (p.Gly3957Ala)
|
|
|
NM_001277115.2(DNAH11):c.11889T>C (p.Ser3963=)
|
rs2128035701
|
|
NM_001277115.2(DNAH11):c.11898A>G (p.Gln3966=)
|
|
|
NM_001277115.2(DNAH11):c.11900G>T (p.Gly3967Val)
|
|
|
NM_001277115.2(DNAH11):c.11906A>G (p.Glu3969Gly)
|
rs1273080022
|
|
NM_001277115.2(DNAH11):c.11910G>A (p.Thr3970=)
|
|
|
NM_001277115.2(DNAH11):c.11910G>C (p.Thr3970=)
|
|
|
NM_001277115.2(DNAH11):c.11911G>A (p.Val3971Met)
|
|
|
NM_001277115.2(DNAH11):c.11924C>T (p.Ala3975Val)
|
rs374560534
|
|
NM_001277115.2(DNAH11):c.11928G>A (p.Leu3976=)
|
|
|
NM_001277115.2(DNAH11):c.11931G>A (p.Glu3977=)
|
|
|
NM_001277115.2(DNAH11):c.11934A>G (p.Lys3978=)
|
|
|
NM_001277115.2(DNAH11):c.1194+11T>C
|
|
|
NM_001277115.2(DNAH11):c.1194+8G>A
|
|
|
NM_001277115.2(DNAH11):c.1194+9C>T
|
|
|
NM_001277115.2(DNAH11):c.1195-12A>G
|
|
|
NM_001277115.2(DNAH11):c.1195-12A>T
|
|
|
NM_001277115.2(DNAH11):c.1195-17C>A
|
|
|
NM_001277115.2(DNAH11):c.1195-17C>G
|
|
|
NM_001277115.2(DNAH11):c.1195-18C>T
|
|
|
NM_001277115.2(DNAH11):c.1195-19C>A
|
|
|
NM_001277115.2(DNAH11):c.1195-19C>G
|
|
|
NM_001277115.2(DNAH11):c.1195-5C>T
|
|
|
NM_001277115.2(DNAH11):c.1195-6T>C
|
|
|
NM_001277115.2(DNAH11):c.11952C>T (p.His3984=)
|
|
|
NM_001277115.2(DNAH11):c.11956G>A (p.Val3986Ile)
|
|
|
NM_001277115.2(DNAH11):c.11967+16C>T
|
|
|
NM_001277115.2(DNAH11):c.11967+19G>C
|
|
|
NM_001277115.2(DNAH11):c.11967+20G>T
|
|
|
NM_001277115.2(DNAH11):c.11967+8T>A
|
|
|
NM_001277115.2(DNAH11):c.11968-17A>T
|
|
|
NM_001277115.2(DNAH11):c.11968-18C>A
|
rs182921787
|
|
NM_001277115.2(DNAH11):c.11968-9A>G
|
|
|
NM_001277115.2(DNAH11):c.1197A>C (p.Ala399=)
|
|
|
NM_001277115.2(DNAH11):c.1197A>G (p.Ala399=)
|
|
|
NM_001277115.2(DNAH11):c.11985C>G (p.Ala3995=)
|
|
|
NM_001277115.2(DNAH11):c.11988G>A (p.Lys3996=)
|
|
|
NM_001277115.2(DNAH11):c.11996G>C (p.Gly3999Ala)
|
|
|
NM_001277115.2(DNAH11):c.12018A>G (p.Glu4006=)
|
|
|
NM_001277115.2(DNAH11):c.12020G>C (p.Arg4007Thr)
|
|
|
NM_001277115.2(DNAH11):c.12026G>C (p.Ser4009Thr)
|
|
|
NM_001277115.2(DNAH11):c.12027C>T (p.Ser4009=)
|
|
|
NM_001277115.2(DNAH11):c.12046T>C (p.Tyr4016His)
|
|
|
NM_001277115.2(DNAH11):c.12048C>T (p.Tyr4016=)
|
|
|
NM_001277115.2(DNAH11):c.12066T>G (p.Ala4022=)
|
|
|
NM_001277115.2(DNAH11):c.12069G>A (p.Glu4023=)
|
|
|
NM_001277115.2(DNAH11):c.12075A>G (p.Ala4025=)
|
|
|
NM_001277115.2(DNAH11):c.1207C>G (p.Leu403Val)
|
|
|
NM_001277115.2(DNAH11):c.12080C>T (p.Thr4027Ile)
|
|
|
NM_001277115.2(DNAH11):c.12092A>G (p.His4031Arg)
|
|
|
NM_001277115.2(DNAH11):c.12096C>A (p.Ile4032=)
|
|
|
NM_001277115.2(DNAH11):c.12116A>C (p.Glu4039Ala)
|
|
|
NM_001277115.2(DNAH11):c.1211C>T (p.Ser404Leu)
|
|
|
NM_001277115.2(DNAH11):c.12123C>T (p.Ser4041=)
|
|
|
NM_001277115.2(DNAH11):c.12132C>A (p.Ile4044=)
|
|
|
NM_001277115.2(DNAH11):c.12135T>C (p.Thr4045=)
|
|
|
NM_001277115.2(DNAH11):c.12141A>T (p.Glu4047Asp)
|
|
|
NM_001277115.2(DNAH11):c.12153G>C (p.Gly4051=)
|
|
|
NM_001277115.2(DNAH11):c.12157C>T (p.Leu4053=)
|
|
|
NM_001277115.2(DNAH11):c.12158T>C (p.Leu4053Pro)
|
|
|
NM_001277115.2(DNAH11):c.12159G>A (p.Leu4053=)
|
|
|
NM_001277115.2(DNAH11):c.12159G>T (p.Leu4053=)
|
|
|
NM_001277115.2(DNAH11):c.1215T>C (p.Pro405=)
|
|
|
NM_001277115.2(DNAH11):c.12168G>A (p.Leu4056=)
|
|
|
NM_001277115.2(DNAH11):c.12171T>C (p.His4057=)
|
|
|
NM_001277115.2(DNAH11):c.12173C>T (p.Ala4058Val)
|
|
|
NM_001277115.2(DNAH11):c.12177C>G (p.Ala4059=)
|
|
|
NM_001277115.2(DNAH11):c.12180G>A (p.Leu4060=)
|
|
|
NM_001277115.2(DNAH11):c.12195+10C>A
|
|
|
NM_001277115.2(DNAH11):c.12195+10C>G
|
|
|
NM_001277115.2(DNAH11):c.12195+18G>C
|
|
|
NM_001277115.2(DNAH11):c.12196-12C>T
|
|
|
NM_001277115.2(DNAH11):c.12196-14C>T
|
|
|
NM_001277115.2(DNAH11):c.12196-17C>G
|
|
|
NM_001277115.2(DNAH11):c.12196-6T>C
|
|
|
NM_001277115.2(DNAH11):c.12208A>G (p.Ile4070Val)
|
|
|
NM_001277115.2(DNAH11):c.12216C>T (p.Ser4072=)
|
|
|
NM_001277115.2(DNAH11):c.1221C>T (p.Asp407=)
|
|
|
NM_001277115.2(DNAH11):c.12222G>A (p.Glu4074=)
|
|
|
NM_001277115.2(DNAH11):c.12234A>G (p.Lys4078=)
|
|
|
NM_001277115.2(DNAH11):c.12240C>T (p.Ile4080=)
|
|
|
NM_001277115.2(DNAH11):c.12249T>C (p.Ser4083=)
|
|
|
NM_001277115.2(DNAH11):c.12252C>G (p.Leu4084=)
|
|
|
NM_001277115.2(DNAH11):c.12255C>G (p.Cys4085Trp)
|
|
|
NM_001277115.2(DNAH11):c.12267C>G (p.Ala4089=)
|
|
|
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=)
|
|
|
NM_001277115.2(DNAH11):c.1227G>A (p.Leu409=)
|
|
|
NM_001277115.2(DNAH11):c.12294C>T (p.Gly4098=)
|
|
|
NM_001277115.2(DNAH11):c.1230G>A (p.Arg410=)
|
|
|
NM_001277115.2(DNAH11):c.12319C>G (p.Pro4107Ala)
|
|
|
NM_001277115.2(DNAH11):c.12333A>G (p.Gly4111=)
|
rs2128042289
|
|
NM_001277115.2(DNAH11):c.12334G>C (p.Asp4112His)
|
|
|
NM_001277115.2(DNAH11):c.12339C>T (p.Leu4113=)
|
|
|
NM_001277115.2(DNAH11):c.1233A>C (p.Gly411=)
|
|
|
NM_001277115.2(DNAH11):c.12361T>C (p.Tyr4121His)
|
|
|
NM_001277115.2(DNAH11):c.1236A>G (p.Glu412=)
|
|
|
NM_001277115.2(DNAH11):c.12371T>C (p.Leu4124Ser)
|
|
|
NM_001277115.2(DNAH11):c.12375G>A (p.Glu4125=)
|
|
|
NM_001277115.2(DNAH11):c.12387+18A>C
|
|
|
NM_001277115.2(DNAH11):c.12387+18A>G
|
|
|
NM_001277115.2(DNAH11):c.12387+7G>A
|
|
|
NM_001277115.2(DNAH11):c.12387+8C>G
|
|
|
NM_001277115.2(DNAH11):c.12388-12T>C
|
|
|
NM_001277115.2(DNAH11):c.12388-15T>C
|
|
|
NM_001277115.2(DNAH11):c.12388-20T>G
|
|
|
NM_001277115.2(DNAH11):c.12388-4A>G
|
rs758561213
|
|
NM_001277115.2(DNAH11):c.12388-5C>T
|
|
|
NM_001277115.2(DNAH11):c.12393A>G (p.Pro4131=)
|
|
|
NM_001277115.2(DNAH11):c.1240G>C (p.Glu414Gln)
|
|
|
NM_001277115.2(DNAH11):c.12432T>C (p.Tyr4144=)
|
|
|
NM_001277115.2(DNAH11):c.12441C>T (p.His4147=)
|
|
|
NM_001277115.2(DNAH11):c.12447A>C (p.Thr4149=)
|
|
|
NM_001277115.2(DNAH11):c.12465A>G (p.Lys4155=)
|
|
|
NM_001277115.2(DNAH11):c.12474G>A (p.Arg4158=)
|
|
|
NM_001277115.2(DNAH11):c.12477G>A (p.Val4159=)
|
|
|
NM_001277115.2(DNAH11):c.12492C>T (p.Phe4164=)
|
|
|
NM_001277115.2(DNAH11):c.12492_12493inv (p.Met4165Val)
|
|
|
NM_001277115.2(DNAH11):c.1249C>T (p.Leu417=)
|
|
|
NM_001277115.2(DNAH11):c.12505C>T (p.Leu4169=)
|
rs764262245
|
|
NM_001277115.2(DNAH11):c.12507+12G>T
|
|
|
NM_001277115.2(DNAH11):c.12507+14A>C
|
|
|
NM_001277115.2(DNAH11):c.12507+16A>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.12572A>T (p.Tyr4191Phe)
|
|
|
NM_001277115.2(DNAH11):c.12600T>A (p.Pro4200=)
|
|
|
NM_001277115.2(DNAH11):c.12609C>T (p.Ser4203=)
|
|
|
NM_001277115.2(DNAH11):c.1260G>T (p.Val420=)
|
|
|
NM_001277115.2(DNAH11):c.12612G>A (p.Pro4204=)
|
rs73683005
|
|
NM_001277115.2(DNAH11):c.12647A>T (p.Glu4216Val)
|
|
|
NM_001277115.2(DNAH11):c.12654G>C (p.Leu4218=)
|
|
|
NM_001277115.2(DNAH11):c.12659T>G (p.Val4220Gly)
|
|
|
NM_001277115.2(DNAH11):c.12666C>A (p.Ser4222=)
|
|
|
NM_001277115.2(DNAH11):c.12669C>T (p.Asn4223=)
|
rs1554293255
|
|
NM_001277115.2(DNAH11):c.12681A>G (p.Arg4227=)
|
|
|
NM_001277115.2(DNAH11):c.12685T>C (p.Leu4229=)
|
|
|
NM_001277115.2(DNAH11):c.12692A>C (p.Glu4231Ala)
|
|
|
NM_001277115.2(DNAH11):c.12708T>C (p.Asn4236=)
|
rs775042712
|
|
NM_001277115.2(DNAH11):c.12710C>T (p.Ala4237Val)
|
|
|
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.12735G>T (p.Gln4245His)
|
|
|
NM_001277115.2(DNAH11):c.12737C>G (p.Ser4246Cys)
|
|
|
NM_001277115.2(DNAH11):c.12750+13T>C
|
|
|
NM_001277115.2(DNAH11):c.12750+16T>C
|
|
|
NM_001277115.2(DNAH11):c.12750+8G>A
|
|
|
NM_001277115.2(DNAH11):c.12751-11A>G
|
|
|
NM_001277115.2(DNAH11):c.12751-14G>C
|
|
|
NM_001277115.2(DNAH11):c.12751-14_12751-13del
|
|
|
NM_001277115.2(DNAH11):c.12751-19T>G
|
|
|
NM_001277115.2(DNAH11):c.12757A>G (p.Asn4253Asp)
|
|
|
NM_001277115.2(DNAH11):c.12775T>C (p.Leu4259=)
|
|
|
NM_001277115.2(DNAH11):c.12778G>A (p.Glu4260Lys)
|
|
|
NM_001277115.2(DNAH11):c.12785T>C (p.Leu4262Pro)
|
|
|
NM_001277115.2(DNAH11):c.1278C>T (p.Ile426=)
|
|
|
NM_001277115.2(DNAH11):c.12804G>A (p.Met4268Ile)
|
|
|
NM_001277115.2(DNAH11):c.12810G>A (p.Glu4270=)
|
|
|
NM_001277115.2(DNAH11):c.12811A>C (p.Ile4271Leu)
|
|
|
NM_001277115.2(DNAH11):c.12830A>G (p.Asn4277Ser)
|
|
|
NM_001277115.2(DNAH11):c.12837C>T (p.Ser4279=)
|
|
|
NM_001277115.2(DNAH11):c.12840A>C (p.Pro4280=)
|
|
|
NM_001277115.2(DNAH11):c.12840A>G (p.Pro4280=)
|
|
|
NM_001277115.2(DNAH11):c.12840A>T (p.Pro4280=)
|
rs765016952
|
|
NM_001277115.2(DNAH11):c.1286C>T (p.Thr429Ile)
|
|
|
NM_001277115.2(DNAH11):c.12885C>T (p.Leu4295=)
|
|
|
NM_001277115.2(DNAH11):c.12892G>A (p.Glu4298Lys)
|
|
|
NM_001277115.2(DNAH11):c.12903A>T (p.Ile4301=)
|
|
|
NM_001277115.2(DNAH11):c.1290C>G (p.Phe430Leu)
|
|
|
NM_001277115.2(DNAH11):c.1290C>T (p.Phe430=)
|
rs765276431
|
|
NM_001277115.2(DNAH11):c.12921C>T (p.Asp4307=)
|
|
|
NM_001277115.2(DNAH11):c.12933+10A>C
|
|
|
NM_001277115.2(DNAH11):c.12933+11_12933+12del
|
|
|
NM_001277115.2(DNAH11):c.12933+12G>A
|
|
|
NM_001277115.2(DNAH11):c.12933+14G>A
|
|
|
NM_001277115.2(DNAH11):c.12933+14G>T
|
|
|
NM_001277115.2(DNAH11):c.12933+16G>T
|
|
|
NM_001277115.2(DNAH11):c.12933+17G>T
|
|
|
NM_001277115.2(DNAH11):c.12933+18C>G
|
|
|
NM_001277115.2(DNAH11):c.12933+20A>G
|
|
|
NM_001277115.2(DNAH11):c.12934-5G>C
|
|
|
NM_001277115.2(DNAH11):c.12934-5G>T
|
|
|
NM_001277115.2(DNAH11):c.12934-7A>G
|
|
|
NM_001277115.2(DNAH11):c.1293A>C (p.Lys431Asn)
|
|
|
NM_001277115.2(DNAH11):c.12940T>C (p.Leu4314=)
|
|
|
NM_001277115.2(DNAH11):c.12942G>A (p.Leu4314=)
|
|
|
NM_001277115.2(DNAH11):c.12945A>G (p.Ala4315=)
|
|
|
NM_001277115.2(DNAH11):c.12984T>C (p.Ser4328=)
|
|
|
NM_001277115.2(DNAH11):c.13005T>C (p.Thr4335=)
|
|
|
NM_001277115.2(DNAH11):c.13016T>C (p.Leu4339Pro)
|
|
|
NM_001277115.2(DNAH11):c.13017G>C (p.Leu4339=)
|
|
|
NM_001277115.2(DNAH11):c.13041A>G (p.Leu4347=)
|
|
|
NM_001277115.2(DNAH11):c.13049+13A>C
|
|
|
NM_001277115.2(DNAH11):c.13049+15C>G
|
|
|
NM_001277115.2(DNAH11):c.13049+18C>G
|
|
|
NM_001277115.2(DNAH11):c.13049+19A>C
|
|
|
NM_001277115.2(DNAH11):c.13049+20C>T
|
|
|
NM_001277115.2(DNAH11):c.13050-13T>G
|
|
|
NM_001277115.2(DNAH11):c.13050-14C>T
|
|
|
NM_001277115.2(DNAH11):c.13050-18C>A
|
|
|
NM_001277115.2(DNAH11):c.13050-18C>T
|
|
|
NM_001277115.2(DNAH11):c.13050-19C>T
|
rs2128051752
|
|
NM_001277115.2(DNAH11):c.13050-4C>T
|
|
|
NM_001277115.2(DNAH11):c.13050-9A>G
|
|
|
NM_001277115.2(DNAH11):c.13050-9A>T
|
|
|
NM_001277115.2(DNAH11):c.13053C>T (p.Phe4351=)
|
|
|
NM_001277115.2(DNAH11):c.13055A>G (p.Asn4352Ser)
|
|
|
NM_001277115.2(DNAH11):c.13070G>A (p.Arg4357Gln)
|
|
|
NM_001277115.2(DNAH11):c.13083C>T (p.Leu4361=)
|
|
|
NM_001277115.2(DNAH11):c.13098A>G (p.Gln4366=)
|
|
|
NM_001277115.2(DNAH11):c.13108C>A (p.Leu4370Ile)
|
|
|
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)
|
|
|
NM_001277115.2(DNAH11):c.13119C>A (p.Val4373=)
|
|
|
NM_001277115.2(DNAH11):c.13119C>T (p.Val4373=)
|
|
|
NM_001277115.2(DNAH11):c.1311T>C (p.Tyr437=)
|
|
|
NM_001277115.2(DNAH11):c.13120G>A (p.Val4374Met)
|
|
|
NM_001277115.2(DNAH11):c.13122G>A (p.Val4374=)
|
|
|
NM_001277115.2(DNAH11):c.13122G>T (p.Val4374=)
|
|
|
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=)
|
|
|
NM_001277115.2(DNAH11):c.13131C>T (p.Ser4377=)
|
|
|
NM_001277115.2(DNAH11):c.13134C>T (p.Gly4378=)
|
|
|
NM_001277115.2(DNAH11):c.1313G>C (p.Arg438Thr)
|
|
|
NM_001277115.2(DNAH11):c.13155C>T (p.Phe4385=)
|
|
|
NM_001277115.2(DNAH11):c.13162+12C>G
|
|
|
NM_001277115.2(DNAH11):c.13162+13G>A
|
|
|
NM_001277115.2(DNAH11):c.13162+14C>T
|
|
|
NM_001277115.2(DNAH11):c.13162+18G>A
|
|
|
NM_001277115.2(DNAH11):c.13162+18_13162+22dup
|
|
|
NM_001277115.2(DNAH11):c.13162+19C>T
|
|
|
NM_001277115.2(DNAH11):c.13162+8C>G
|
|
|
NM_001277115.2(DNAH11):c.13162+8C>T
|
|
|
NM_001277115.2(DNAH11):c.13163-11T>A
|
|
|
NM_001277115.2(DNAH11):c.13163-11T>C
|
|
|
NM_001277115.2(DNAH11):c.13163-12A>G
|
|
|
NM_001277115.2(DNAH11):c.13163-12A>T
|
|
|
NM_001277115.2(DNAH11):c.13163-13TA[3]
|
|
|
NM_001277115.2(DNAH11):c.13163-15dup
|
|
|
NM_001277115.2(DNAH11):c.13163-17_13163-7del
|
|
|
NM_001277115.2(DNAH11):c.13163-21_13163-10del
|
|
|
NM_001277115.2(DNAH11):c.13163-5C>T
|
|
|
NM_001277115.2(DNAH11):c.13163-6C>T
|
|
|
NM_001277115.2(DNAH11):c.13175C>G (p.Thr4392Arg)
|
|
|
NM_001277115.2(DNAH11):c.13176G>A (p.Thr4392=)
|
rs79449551
|
|
NM_001277115.2(DNAH11):c.13176G>T (p.Thr4392=)
|
|
|
NM_001277115.2(DNAH11):c.13183C>A (p.Arg4395=)
|
rs757784023
|
|
NM_001277115.2(DNAH11):c.13184G>T (p.Arg4395Leu)
|
rs368249392
|
|
NM_001277115.2(DNAH11):c.13206T>A (p.Asp4402Glu)
|
|
|
NM_001277115.2(DNAH11):c.13212G>C (p.Thr4404=)
|
|
|
NM_001277115.2(DNAH11):c.13216T>G (p.Leu4406Val)
|
|
|
NM_001277115.2(DNAH11):c.13227T>C (p.Asp4409=)
|
|
|
NM_001277115.2(DNAH11):c.13229T>C (p.Val4410Ala)
|
|
|
NM_001277115.2(DNAH11):c.13233C>G (p.Thr4411=)
|
|
|
NM_001277115.2(DNAH11):c.13239A>G (p.Lys4413=)
|
|
|
NM_001277115.2(DNAH11):c.13246G>A (p.Glu4416Lys)
|
|
|
NM_001277115.2(DNAH11):c.13263G>A (p.Pro4421=)
|
rs72658834
|
|
NM_001277115.2(DNAH11):c.13276G>A (p.Ala4426Thr)
|
|
|
NM_001277115.2(DNAH11):c.13296C>T (p.Phe4432=)
|
|
|
NM_001277115.2(DNAH11):c.13303+11_13303+12dup
|
|
|
NM_001277115.2(DNAH11):c.13303+12C>T
|
|
|
NM_001277115.2(DNAH11):c.13303+16G>T
|
|
|
NM_001277115.2(DNAH11):c.13303+20_13303+23dup
|
|
|
NM_001277115.2(DNAH11):c.13303+7C>T
|
|
|
NM_001277115.2(DNAH11):c.13303+9C>T
|
|
|
NM_001277115.2(DNAH11):c.13308C>A (p.Ala4436=)
|
|
|
NM_001277115.2(DNAH11):c.13320C>T (p.Thr4440=)
|
|
|
NM_001277115.2(DNAH11):c.13323A>G (p.Gln4441=)
|
|
|
NM_001277115.2(DNAH11):c.13329A>T (p.Gly4443=)
|
|
|
NM_001277115.2(DNAH11):c.1335T>C (p.Phe445=)
|
|
|
NM_001277115.2(DNAH11):c.13362A>T (p.Ala4454=)
|
|
|
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.13383T>C (p.Phe4461=)
|
|
|
NM_001277115.2(DNAH11):c.13389A>G (p.Lys4463=)
|
rs759644499
|
|
NM_001277115.2(DNAH11):c.13395C>G (p.Thr4465=)
|
|
|
NM_001277115.2(DNAH11):c.13398C>A (p.Pro4466=)
|
|
|
NM_001277115.2(DNAH11):c.1339G>A (p.Gly447Arg)
|
|
|
NM_001277115.2(DNAH11):c.13410A>G (p.Gln4470=)
|
|
|
NM_001277115.2(DNAH11):c.13416C>T (p.Thr4472=)
|
|
|
NM_001277115.2(DNAH11):c.13425C>T (p.Thr4475=)
|
|
|
NM_001277115.2(DNAH11):c.13428C>T (p.Tyr4476=)
|
|
|
NM_001277115.2(DNAH11):c.13431G>A (p.Glu4477=)
|
|
|
NM_001277115.2(DNAH11):c.13446A>G (p.Arg4482=)
|
|
|
NM_001277115.2(DNAH11):c.13449C>A (p.Thr4483=)
|
|
|
NM_001277115.2(DNAH11):c.13455G>A (p.Leu4485=)
|
|
|
NM_001277115.2(DNAH11):c.13461C>A (p.Gly4487=)
|
|
|
NM_001277115.2(DNAH11):c.13464C>A (p.Pro4488=)
|
rs1489261617
|
|
NM_001277115.2(DNAH11):c.13467C>T (p.Ser4489=)
|
|
|
NM_001277115.2(DNAH11):c.13485G>A (p.Arg4495=)
|
|
|
NM_001277115.2(DNAH11):c.13506T>G (p.Thr4502=)
|
|
|
NM_001277115.2(DNAH11):c.13521G>A (p.Leu4507=)
|
|
|
NM_001277115.2(DNAH11):c.13524T>C (p.Ala4508=)
|
|
|
NM_001277115.2(DNAH11):c.13530G>A (p.Val4510=)
|
|
|
NM_001277115.2(DNAH11):c.13539T>G (p.Leu4513=)
|
|
|
NM_001277115.2(DNAH11):c.13542A>G (p.Leu4514=)
|
|
|
NM_001277115.2(DNAH11):c.13545A>G (p.Glu4515=)
|
|
|
NM_001277115.2(DNAH11):c.1354C>T (p.Pro452Ser)
|
|
|
NM_001277115.2(DNAH11):c.1366C>G (p.Gln456Glu)
|
|
|
NM_001277115.2(DNAH11):c.1371T>G (p.Ser457=)
|
|
|
NM_001277115.2(DNAH11):c.1377G>C (p.Leu459=)
|
|
|
NM_001277115.2(DNAH11):c.1378G>A (p.Val460Met)
|
|
|
NM_001277115.2(DNAH11):c.1383T>C (p.Phe461=)
|
|
|
NM_001277115.2(DNAH11):c.1384T>C (p.Cys462Arg)
|
|
|
NM_001277115.2(DNAH11):c.1401T>C (p.Phe467=)
|
|
|
NM_001277115.2(DNAH11):c.1408C>A (p.Arg470Ser)
|
|
|
NM_001277115.2(DNAH11):c.1415T>C (p.Ile472Thr)
|
|
|
NM_001277115.2(DNAH11):c.1425+12T>C
|
|
|
NM_001277115.2(DNAH11):c.1425+14G>A
|
|
|
NM_001277115.2(DNAH11):c.1425+14G>T
|
|
|
NM_001277115.2(DNAH11):c.1425+19T>G
|
|
|
NM_001277115.2(DNAH11):c.1425+23_1425+26del
|
|
|
NM_001277115.2(DNAH11):c.1425+7_1425+8del
|
|
|
NM_001277115.2(DNAH11):c.1426-15G>A
|
|
|
NM_001277115.2(DNAH11):c.1426-16T>C
|
|
|
NM_001277115.2(DNAH11):c.1426-19T>C
|
|
|
NM_001277115.2(DNAH11):c.1429A>G (p.Ile477Val)
|
|
|
NM_001277115.2(DNAH11):c.1434T>C (p.Phe478=)
|
|
|
NM_001277115.2(DNAH11):c.1438A>G (p.Thr480Ala)
|
rs763939941
|
|
NM_001277115.2(DNAH11):c.1451T>C (p.Phe484Ser)
|
|
|
NM_001277115.2(DNAH11):c.1456A>G (p.Lys486Glu)
|
|
|
NM_001277115.2(DNAH11):c.1469T>A (p.Leu490Gln)
|
|
|
NM_001277115.2(DNAH11):c.1479T>C (p.Gly493=)
|
|
|
NM_001277115.2(DNAH11):c.1498T>C (p.Leu500=)
|
|
|
NM_001277115.2(DNAH11):c.1512C>A (p.Val504=)
|
|
|
NM_001277115.2(DNAH11):c.1516G>A (p.Glu506Lys)
|
rs760400011
|
|
NM_001277115.2(DNAH11):c.1533T>G (p.Leu511=)
|
|
|
NM_001277115.2(DNAH11):c.1550T>A (p.Leu517His)
|
|
|
NM_001277115.2(DNAH11):c.1569T>C (p.Tyr523=)
|
|
|
NM_001277115.2(DNAH11):c.1572C>G (p.Asp524Glu)
|
|
|
NM_001277115.2(DNAH11):c.1581T>C (p.Asp527=)
|
|
|
NM_001277115.2(DNAH11):c.1584C>T (p.Cys528=)
|
|
|
NM_001277115.2(DNAH11):c.1593+11_1593+16dup
|
|
|
NM_001277115.2(DNAH11):c.1593+12C>T
|
|
|
NM_001277115.2(DNAH11):c.1593+17G>A
|
|
|
NM_001277115.2(DNAH11):c.1593+9G>T
|
|
|
NM_001277115.2(DNAH11):c.1594-16A>T
|
|
|
NM_001277115.2(DNAH11):c.1594-20T>C
|
|
|
NM_001277115.2(DNAH11):c.1618T>C (p.Phe540Leu)
|
|
|
NM_001277115.2(DNAH11):c.1623G>A (p.Lys541=)
|
|
|
NM_001277115.2(DNAH11):c.1631C>T (p.Thr544Ile)
|
|
|
NM_001277115.2(DNAH11):c.1643A>G (p.Asp548Gly)
|
|
|
NM_001277115.2(DNAH11):c.1650G>C (p.Arg550Ser)
|
|
|
NM_001277115.2(DNAH11):c.1653T>C (p.Leu551=)
|
|
|
NM_001277115.2(DNAH11):c.1664T>C (p.Ile555Thr)
|
|
|
NM_001277115.2(DNAH11):c.1667G>A (p.Cys556Tyr)
|
|
|
NM_001277115.2(DNAH11):c.1674T>A (p.Ala558=)
|
|
|
NM_001277115.2(DNAH11):c.1689T>C (p.Asn563=)
|
|
|
NM_001277115.2(DNAH11):c.1692C>G (p.Gly564=)
|
|
|
NM_001277115.2(DNAH11):c.1710+16G>C
|
|
|
NM_001277115.2(DNAH11):c.1710+19A>G
|
|
|
NM_001277115.2(DNAH11):c.1710+20T>C
|
|
|
NM_001277115.2(DNAH11):c.1711-16A>G
|
|
|
NM_001277115.2(DNAH11):c.1711-20C>G
|
|
|
NM_001277115.2(DNAH11):c.1711-5T>C
|
|
|
NM_001277115.2(DNAH11):c.1737A>G (p.Leu579=)
|
|
|
NM_001277115.2(DNAH11):c.174G>A (p.Arg58=)
|
|
|
NM_001277115.2(DNAH11):c.175G>A (p.Val59Met)
|
|
|
NM_001277115.2(DNAH11):c.1764C>T (p.Phe588=)
|
|
|
NM_001277115.2(DNAH11):c.177G>T (p.Val59=)
|
|
|
NM_001277115.2(DNAH11):c.1800T>C (p.Asn600=)
|
|
|
NM_001277115.2(DNAH11):c.180C>T (p.Arg60=)
|
rs781089233
|
|
NM_001277115.2(DNAH11):c.1817G>A (p.Cys606Tyr)
|
|
|
NM_001277115.2(DNAH11):c.1848+11G>A
|
|
|
NM_001277115.2(DNAH11):c.1848+16G>A
|
|
|
NM_001277115.2(DNAH11):c.1848+17G>T
|
|
|
NM_001277115.2(DNAH11):c.1848+20G>A
|
|
|
NM_001277115.2(DNAH11):c.1849-11T>C
|
|
|
NM_001277115.2(DNAH11):c.1849-12A>T
|
|
|
NM_001277115.2(DNAH11):c.1849-7C>T
|
|
|
NM_001277115.2(DNAH11):c.1860T>G (p.Gly620=)
|
|
|
NM_001277115.2(DNAH11):c.186C>T (p.Leu62=)
|
|
|
NM_001277115.2(DNAH11):c.1903A>G (p.Met635Val)
|
|
|
NM_001277115.2(DNAH11):c.1908A>G (p.Lys636=)
|
|
|
NM_001277115.2(DNAH11):c.1913C>A (p.Ala638Asp)
|
|
|
NM_001277115.2(DNAH11):c.1915_1916inv (p.Gln639Trp)
|
|
|
NM_001277115.2(DNAH11):c.1916_1917delinsGT (p.Gln639Arg)
|
|
|
NM_001277115.2(DNAH11):c.1917G>T (p.Gln639His)
|
|
|
NM_001277115.2(DNAH11):c.1930C>A (p.Arg644=)
|
|
|
NM_001277115.2(DNAH11):c.1935T>C (p.Leu645=)
|
|
|
NM_001277115.2(DNAH11):c.1949C>T (p.Ser650Leu)
|
|
|
NM_001277115.2(DNAH11):c.1973+18G>A
|
|
|
NM_001277115.2(DNAH11):c.1973+19G>C
|
|
|
NM_001277115.2(DNAH11):c.1973+7A>G
|
|
|
NM_001277115.2(DNAH11):c.1974-24_1974-13del
|
|
|
NM_001277115.2(DNAH11):c.1974-5T>C
|
|
|
NM_001277115.2(DNAH11):c.1974-7C>T
|
|
|
NM_001277115.2(DNAH11):c.1986T>C (p.Asn662=)
|
|
|
NM_001277115.2(DNAH11):c.1988C>T (p.Pro663Leu)
|
|
|
NM_001277115.2(DNAH11):c.1993C>G (p.His665Asp)
|
|
|
NM_001277115.2(DNAH11):c.1996G>T (p.Ala666Ser)
|
|
|
NM_001277115.2(DNAH11):c.1997C>A (p.Ala666Asp)
|
|
|
NM_001277115.2(DNAH11):c.201G>A (p.Ala67=)
|
|
|
NM_001277115.2(DNAH11):c.2028C>T (p.Thr676=)
|
|
|
NM_001277115.2(DNAH11):c.2053C>T (p.Arg685Cys)
|
|
|
NM_001277115.2(DNAH11):c.2055T>C (p.Arg685=)
|
|
|
NM_001277115.2(DNAH11):c.2064T>C (p.Asn688=)
|
|
|
NM_001277115.2(DNAH11):c.2067A>G (p.Glu689=)
|
|
|
NM_001277115.2(DNAH11):c.2099T>C (p.Phe700Ser)
|
|
|
NM_001277115.2(DNAH11):c.2112A>C (p.Gln704His)
|
|
|
NM_001277115.2(DNAH11):c.2127C>T (p.Phe709=)
|
|
|
NM_001277115.2(DNAH11):c.2139T>C (p.Asn713=)
|
|
|
NM_001277115.2(DNAH11):c.2142T>C (p.Gly714=)
|
|
|
NM_001277115.2(DNAH11):c.2148C>G (p.Leu716=)
|
|
|
NM_001277115.2(DNAH11):c.2169+12A>T
|
|
|
NM_001277115.2(DNAH11):c.2169+18T>A
|
|
|
NM_001277115.2(DNAH11):c.2169+18T>C
|
|
|
NM_001277115.2(DNAH11):c.216C>T (p.Phe72=)
|
|
|
NM_001277115.2(DNAH11):c.2170-13T>G
|
|
|
NM_001277115.2(DNAH11):c.2170-16A>G
|
|
|
NM_001277115.2(DNAH11):c.2170-6T>C
|
|
|
NM_001277115.2(DNAH11):c.2199T>C (p.Tyr733=)
|
rs2128443515
|
|
NM_001277115.2(DNAH11):c.219G>A (p.Thr73=)
|
|
|
NM_001277115.2(DNAH11):c.2202T>C (p.Leu734=)
|
|
|
NM_001277115.2(DNAH11):c.2209T>C (p.Leu737=)
|
|
|
NM_001277115.2(DNAH11):c.2229A>G (p.Pro743=)
|
|
|
NM_001277115.2(DNAH11):c.2244C>G (p.Ala748=)
|
|
|
NM_001277115.2(DNAH11):c.2244C>T (p.Ala748=)
|
|
|
NM_001277115.2(DNAH11):c.2247C>T (p.Ile749=)
|
|
|
NM_001277115.2(DNAH11):c.2252A>G (p.Lys751Arg)
|
|
|
NM_001277115.2(DNAH11):c.2274+10T>G
|
|
|
NM_001277115.2(DNAH11):c.2274+17A>T
|
|
|
NM_001277115.2(DNAH11):c.2274+20A>T
|
|
|
NM_001277115.2(DNAH11):c.2274+20_2274+24del
|
|
|
NM_001277115.2(DNAH11):c.2274+7G>A
|
rs1784656226
|
|
NM_001277115.2(DNAH11):c.2274+8A>G
|
|
|
NM_001277115.2(DNAH11):c.2275-10_2275-8del
|
|
|
NM_001277115.2(DNAH11):c.2275-20T>G
|
|
|
NM_001277115.2(DNAH11):c.2275-5C>G
|
|
|
NM_001277115.2(DNAH11):c.2277C>T (p.Tyr759=)
|
|
|
NM_001277115.2(DNAH11):c.2280T>C (p.Ile760=)
|
|
|
NM_001277115.2(DNAH11):c.2298T>C (p.Leu766=)
|
|
|
NM_001277115.2(DNAH11):c.2308T>C (p.Tyr770His)
|
|
|
NM_001277115.2(DNAH11):c.2313T>C (p.Asn771=)
|
|
|
NM_001277115.2(DNAH11):c.2313T>G (p.Asn771Lys)
|
|
|
NM_001277115.2(DNAH11):c.2317C>T (p.Leu773Phe)
|
|
|
NM_001277115.2(DNAH11):c.2328G>T (p.Thr776=)
|
|
|
NM_001277115.2(DNAH11):c.2331C>T (p.Leu777=)
|
|
|
NM_001277115.2(DNAH11):c.233G>A (p.Ser78Asn)
|
|
|
NM_001277115.2(DNAH11):c.2352G>A (p.Leu784=)
|
|
|
NM_001277115.2(DNAH11):c.2355T>C (p.Ile785=)
|
|
|
NM_001277115.2(DNAH11):c.2364G>A (p.Glu788=)
|
|
|
NM_001277115.2(DNAH11):c.2364G>T (p.Glu788Asp)
|
|
|
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.237G>A (p.Gln79=)
|
|
|
NM_001277115.2(DNAH11):c.2388G>A (p.Leu796=)
|
rs771017427
|
|
NM_001277115.2(DNAH11):c.2388G>C (p.Leu796=)
|
|
|
NM_001277115.2(DNAH11):c.2390C>G (p.Thr797Arg)
|
|
|
NM_001277115.2(DNAH11):c.240T>C (p.Tyr80=)
|
|
|
NM_001277115.2(DNAH11):c.2412A>G (p.Thr804=)
|
rs564401238
|
|
NM_001277115.2(DNAH11):c.2435A>T (p.Tyr812Phe)
|
|
|
NM_001277115.2(DNAH11):c.2439C>A (p.Ile813=)
|
|
|
NM_001277115.2(DNAH11):c.2440G>C (p.Glu814Gln)
|
|
|
NM_001277115.2(DNAH11):c.2451G>A (p.Arg817=)
|
|
|
NM_001277115.2(DNAH11):c.2454A>C (p.Ala818=)
|
|
|
NM_001277115.2(DNAH11):c.2460G>A (p.Thr820=)
|
|
|
NM_001277115.2(DNAH11):c.2498A>C (p.Asn833Thr)
|
|
|
NM_001277115.2(DNAH11):c.249C>T (p.Ser83=)
|
|
|
NM_001277115.2(DNAH11):c.24G>C (p.Arg8=)
|
|
|
NM_001277115.2(DNAH11):c.2502G>A (p.Val834=)
|
|
|
NM_001277115.2(DNAH11):c.2511C>T (p.Ile837=)
|
|
|
NM_001277115.2(DNAH11):c.2533G>A (p.Ala845Thr)
|
|
|
NM_001277115.2(DNAH11):c.2540G>A (p.Cys847Tyr)
|
|
|
NM_001277115.2(DNAH11):c.2540G>T (p.Cys847Phe)
|
|
|
NM_001277115.2(DNAH11):c.2552C>T (p.Pro851Leu)
|
|
|
NM_001277115.2(DNAH11):c.2564A>G (p.His855Arg)
|
rs1467334392
|
|
NM_001277115.2(DNAH11):c.2593G>C (p.Asp865His)
|
|
|
NM_001277115.2(DNAH11):c.2596A>G (p.Lys866Glu)
|
|
|
NM_001277115.2(DNAH11):c.2607G>A (p.Leu869=)
|
|
|
NM_001277115.2(DNAH11):c.2613A>C (p.Thr871=)
|
|
|
NM_001277115.2(DNAH11):c.2613A>T (p.Thr871=)
|
|
|
NM_001277115.2(DNAH11):c.2624A>C (p.Lys875Thr)
|
|
|
NM_001277115.2(DNAH11):c.2631C>A (p.Ile877=)
|
rs1003575600
|
|
NM_001277115.2(DNAH11):c.2631C>G (p.Ile877Met)
|
|
|
NM_001277115.2(DNAH11):c.264G>A (p.Gln88=)
|
|
|
NM_001277115.2(DNAH11):c.2657A>G (p.Asn886Ser)
|
|
|
NM_001277115.2(DNAH11):c.2661G>A (p.Leu887=)
|
|
|
NM_001277115.2(DNAH11):c.2664C>G (p.Val888=)
|
|
|
NM_001277115.2(DNAH11):c.2667+8C>G
|
|
|
NM_001277115.2(DNAH11):c.2668-15C>T
|
|
|
NM_001277115.2(DNAH11):c.2685C>G (p.Phe895Leu)
|
|
|
NM_001277115.2(DNAH11):c.2694T>C (p.Asn898=)
|
rs2128446539
|
|
NM_001277115.2(DNAH11):c.2703G>C (p.Leu901=)
|
|
|
NM_001277115.2(DNAH11):c.2706T>C (p.Asp902=)
|
|
|
NM_001277115.2(DNAH11):c.2714A>C (p.Lys905Thr)
|
|
|
NM_001277115.2(DNAH11):c.2721T>C (p.Tyr907=)
|
|
|
NM_001277115.2(DNAH11):c.2730C>T (p.Phe910=)
|
|
|
NM_001277115.2(DNAH11):c.2731A>G (p.Ile911Val)
|
|
|
NM_001277115.2(DNAH11):c.2739C>T (p.Asp913=)
|
|
|
NM_001277115.2(DNAH11):c.273G>T (p.Gly91=)
|
|
|
NM_001277115.2(DNAH11):c.2774A>T (p.His925Leu)
|
|
|
NM_001277115.2(DNAH11):c.2776G>A (p.Asp926Asn)
|
|
|
NM_001277115.2(DNAH11):c.2784C>T (p.Asp928=)
|
|
|
NM_001277115.2(DNAH11):c.2791C>T (p.Leu931=)
|
|
|
NM_001277115.2(DNAH11):c.2803G>A (p.Glu935Lys)
|
|
|
NM_001277115.2(DNAH11):c.280C>T (p.Leu94=)
|
|
|
NM_001277115.2(DNAH11):c.2813T>C (p.Leu938Ser)
|
|
|
NM_001277115.2(DNAH11):c.2820G>A (p.Pro940=)
|
|
|
NM_001277115.2(DNAH11):c.2820G>T (p.Pro940=)
|
rs377575914
|
|
NM_001277115.2(DNAH11):c.2841A>G (p.Gln947=)
|
rs1162778746
|
|
NM_001277115.2(DNAH11):c.2847C>T (p.Ile949=)
|
|
|
NM_001277115.2(DNAH11):c.2848T>C (p.Leu950=)
|
|
|
NM_001277115.2(DNAH11):c.2855C>T (p.Pro952Leu)
|
|
|
NM_001277115.2(DNAH11):c.2880C>T (p.Ser960=)
|
|
|
NM_001277115.2(DNAH11):c.288C>T (p.Ser96=)
|
rs576486289
|
|
NM_001277115.2(DNAH11):c.2907C>T (p.Phe969=)
|
rs777691425
|
|
NM_001277115.2(DNAH11):c.2919A>G (p.Val973=)
|
|
|
NM_001277115.2(DNAH11):c.2921A>G (p.Glu974Gly)
|
|
|
NM_001277115.2(DNAH11):c.2926A>G (p.Met976Val)
|
|
|
NM_001277115.2(DNAH11):c.2943T>C (p.Phe981=)
|
rs2128446686
|
|
NM_001277115.2(DNAH11):c.295C>G (p.Pro99Ala)
|
|
|
NM_001277115.2(DNAH11):c.2964C>T (p.Asn988=)
|
|
|
NM_001277115.2(DNAH11):c.2968A>C (p.Ile990Leu)
|
|
|
NM_001277115.2(DNAH11):c.2974A>G (p.Thr992Ala)
|
|
|
NM_001277115.2(DNAH11):c.297G>A (p.Pro99=)
|
|
|
NM_001277115.2(DNAH11):c.297G>T (p.Pro99=)
|
rs886038461
|
|
NM_001277115.2(DNAH11):c.2982G>A (p.Leu994=)
|
|
|
NM_001277115.2(DNAH11):c.3000+16_3000+18del
|
|
|
NM_001277115.2(DNAH11):c.3000+19G>A
|
|
|
NM_001277115.2(DNAH11):c.3000+20G>A
|
rs749028597
|
|
NM_001277115.2(DNAH11):c.3000+20_3000+24dup
|
|
|
NM_001277115.2(DNAH11):c.3001-11C>T
|
rs1785044072
|
|
NM_001277115.2(DNAH11):c.3001-12C>T
|
|
|
NM_001277115.2(DNAH11):c.3001-17G>A
|
|
|
NM_001277115.2(DNAH11):c.3007A>G (p.Met1003Val)
|
|
|
NM_001277115.2(DNAH11):c.3023G>C (p.Gly1008Ala)
|
|
|
NM_001277115.2(DNAH11):c.3025C>T (p.Leu1009=)
|
|
|
NM_001277115.2(DNAH11):c.3027G>A (p.Leu1009=)
|
|
|
NM_001277115.2(DNAH11):c.302G>C (p.Cys101Ser)
|
|
|
NM_001277115.2(DNAH11):c.3036C>A (p.Val1012=)
|
|
|
NM_001277115.2(DNAH11):c.3037A>G (p.Arg1013Gly)
|
|
|
NM_001277115.2(DNAH11):c.3047T>C (p.Ile1016Thr)
|
|
|
NM_001277115.2(DNAH11):c.3048C>T (p.Ile1016=)
|
rs2128446907
|
|
NM_001277115.2(DNAH11):c.3054C>T (p.Asn1018=)
|
|
|
NM_001277115.2(DNAH11):c.3084A>G (p.Leu1028=)
|
|
|
NM_001277115.2(DNAH11):c.3092G>C (p.Arg1031Thr)
|
rs1385242394
|
|
NM_001277115.2(DNAH11):c.3096C>T (p.Asn1032=)
|
|
|
NM_001277115.2(DNAH11):c.3097A>G (p.Thr1033Ala)
|
|
|
NM_001277115.2(DNAH11):c.3114T>C (p.Thr1038=)
|
|
|
NM_001277115.2(DNAH11):c.3126G>C (p.Val1042=)
|
|
|
NM_001277115.2(DNAH11):c.3128A>G (p.Asp1043Gly)
|
|
|
NM_001277115.2(DNAH11):c.3134G>T (p.Arg1045Leu)
|
|
|
NM_001277115.2(DNAH11):c.3150G>A (p.Lys1050=)
|
|
|
NM_001277115.2(DNAH11):c.3151C>T (p.His1051Tyr)
|
|
|
NM_001277115.2(DNAH11):c.3157C>T (p.Leu1053Phe)
|
|
|
NM_001277115.2(DNAH11):c.3162G>T (p.Leu1054Phe)
|
|
|
NM_001277115.2(DNAH11):c.3164A>G (p.Tyr1055Cys)
|
|
|
NM_001277115.2(DNAH11):c.3177G>A (p.Val1059=)
|
|
|
NM_001277115.2(DNAH11):c.3179C>T (p.Ser1060Phe)
|
rs1161706526
|
|
NM_001277115.2(DNAH11):c.3187G>A (p.Glu1063Lys)
|
|
|
NM_001277115.2(DNAH11):c.3192G>C (p.Met1064Ile)
|
|
|
NM_001277115.2(DNAH11):c.31C>G (p.Arg11Gly)
|
|
|
NM_001277115.2(DNAH11):c.320C>T (p.Ala107Val)
|
|
|
NM_001277115.2(DNAH11):c.3231A>G (p.Pro1077=)
|
|
|
NM_001277115.2(DNAH11):c.324C>A (p.Ala108=)
|
|
|
NM_001277115.2(DNAH11):c.3255+11C>T
|
|
|
NM_001277115.2(DNAH11):c.3255+13C>G
|
|
|
NM_001277115.2(DNAH11):c.3255+16_3255+17insTGG
|
|
|
NM_001277115.2(DNAH11):c.3255+17G>C
|
|
|
NM_001277115.2(DNAH11):c.3256-12_3256-11del
|
|
|
NM_001277115.2(DNAH11):c.3256-19A>C
|
|
|
NM_001277115.2(DNAH11):c.3260A>G (p.Asp1087Gly)
|
|
|
NM_001277115.2(DNAH11):c.3264T>C (p.Ile1088=)
|
|
|
NM_001277115.2(DNAH11):c.3267T>C (p.Tyr1089=)
|
|
|
NM_001277115.2(DNAH11):c.327G>C (p.Ser109=)
|
|
|
NM_001277115.2(DNAH11):c.3282T>C (p.Val1094=)
|
|
|
NM_001277115.2(DNAH11):c.3285A>G (p.Gln1095=)
|
|
|
NM_001277115.2(DNAH11):c.32G>A (p.Arg11Gln)
|
rs1471867391
|
|
NM_001277115.2(DNAH11):c.330G>T (p.Gly110=)
|
|
|
NM_001277115.2(DNAH11):c.3320G>A (p.Ser1107Asn)
|
|
|
NM_001277115.2(DNAH11):c.3345T>C (p.Pro1115=)
|
|
|
NM_001277115.2(DNAH11):c.3353T>C (p.Val1118Ala)
|
|
|
NM_001277115.2(DNAH11):c.3366C>G (p.Thr1122=)
|
|
|
NM_001277115.2(DNAH11):c.3378A>G (p.Lys1126=)
|
|
|
NM_001277115.2(DNAH11):c.3396G>A (p.Gln1132=)
|
|
|
NM_001277115.2(DNAH11):c.339G>A (p.Ala113=)
|
|
|
NM_001277115.2(DNAH11):c.3417C>T (p.Val1139=)
|
|
|
NM_001277115.2(DNAH11):c.3425+11A>G
|
|
|
NM_001277115.2(DNAH11):c.3425+12C>A
|
|
|
NM_001277115.2(DNAH11):c.3425+18T>C
|
|
|
NM_001277115.2(DNAH11):c.3425+19T>G
|
|
|
NM_001277115.2(DNAH11):c.3426-11A>G
|
|
|
NM_001277115.2(DNAH11):c.3426-15A>G
|
|
|
NM_001277115.2(DNAH11):c.3426-16C>T
|
|
|
NM_001277115.2(DNAH11):c.3426-18T>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.3435G>A (p.Glu1145=)
|
|
|
NM_001277115.2(DNAH11):c.3442G>A (p.Glu1148Lys)
|
|
|
NM_001277115.2(DNAH11):c.3457A>T (p.Thr1153Ser)
|
|
|
NM_001277115.2(DNAH11):c.3461A>G (p.Asp1154Gly)
|
|
|
NM_001277115.2(DNAH11):c.3465C>T (p.Ser1155=)
|
|
|
NM_001277115.2(DNAH11):c.3472C>G (p.Gln1158Glu)
|
|
|
NM_001277115.2(DNAH11):c.3476G>A (p.Arg1159Lys)
|
rs1192624503
|
|
NM_001277115.2(DNAH11):c.3488A>G (p.Glu1163Gly)
|
|
|
NM_001277115.2(DNAH11):c.3491G>A (p.Gly1164Asp)
|
|
|
NM_001277115.2(DNAH11):c.3492T>C (p.Gly1164=)
|
|
|
NM_001277115.2(DNAH11):c.3500A>G (p.Asp1167Gly)
|
|
|
NM_001277115.2(DNAH11):c.3509T>C (p.Val1170Ala)
|
|
|
NM_001277115.2(DNAH11):c.351+10G>T
|
|
|
NM_001277115.2(DNAH11):c.351+12C>T
|
|
|
NM_001277115.2(DNAH11):c.351+15G>A
|
|
|
NM_001277115.2(DNAH11):c.351+7G>A
|
|
|
NM_001277115.2(DNAH11):c.351+9C>G
|
|
|
NM_001277115.2(DNAH11):c.352-13G>A
|
|
|
NM_001277115.2(DNAH11):c.352-13G>C
|
|
|
NM_001277115.2(DNAH11):c.352-20T>C
|
|
|
NM_001277115.2(DNAH11):c.352-7G>A
|
|
|
NM_001277115.2(DNAH11):c.352-7G>C
|
|
|
NM_001277115.2(DNAH11):c.352-9_352-8del
|
|
|
NM_001277115.2(DNAH11):c.3528T>C (p.Leu1176=)
|
|
|
NM_001277115.2(DNAH11):c.3529C>T (p.Leu1177=)
|
|
|
NM_001277115.2(DNAH11):c.3531G>C (p.Leu1177=)
|
|
|
NM_001277115.2(DNAH11):c.3532G>T (p.Ala1178Ser)
|
|
|
NM_001277115.2(DNAH11):c.3543C>T (p.Ser1181=)
|
|
|
NM_001277115.2(DNAH11):c.3556A>G (p.Thr1186Ala)
|
|
|
NM_001277115.2(DNAH11):c.3567C>G (p.Leu1189=)
|
|
|
NM_001277115.2(DNAH11):c.3570T>C (p.Phe1190=)
|
|
|
NM_001277115.2(DNAH11):c.3577C>T (p.Leu1193=)
|
|
|
NM_001277115.2(DNAH11):c.3579A>G (p.Leu1193=)
|
|
|
NM_001277115.2(DNAH11):c.3585A>G (p.Glu1195=)
|
|
|
NM_001277115.2(DNAH11):c.3588G>A (p.Thr1196=)
|
rs375767160
|
|
NM_001277115.2(DNAH11):c.3588G>T (p.Thr1196=)
|
|
|
NM_001277115.2(DNAH11):c.3589A>G (p.Ile1197Val)
|
|
|
NM_001277115.2(DNAH11):c.3592A>G (p.Thr1198Ala)
|
|
|
NM_001277115.2(DNAH11):c.3597C>T (p.Leu1199=)
|
|
|
NM_001277115.2(DNAH11):c.3622C>G (p.Pro1208Ala)
|
|
|
NM_001277115.2(DNAH11):c.3645A>G (p.Leu1215=)
|
|
|
NM_001277115.2(DNAH11):c.3648+10G>C
|
|
|
NM_001277115.2(DNAH11):c.3648+14T>C
|
|
|
NM_001277115.2(DNAH11):c.3648+15G>A
|
|
|
NM_001277115.2(DNAH11):c.3648+19_3648+26dup
|
|
|
NM_001277115.2(DNAH11):c.3648+20A>G
|
|
|
NM_001277115.2(DNAH11):c.3648+23_3648+28del
|
|
|
NM_001277115.2(DNAH11):c.3648+7G>T
|
|
|
NM_001277115.2(DNAH11):c.3649-11T>C
|
|
|
NM_001277115.2(DNAH11):c.3649-12T>C
|
|
|
NM_001277115.2(DNAH11):c.3649-16G>A
|
|
|
NM_001277115.2(DNAH11):c.3649-5T>C
|
|
|
NM_001277115.2(DNAH11):c.3655C>T (p.Pro1219Ser)
|
|
|
NM_001277115.2(DNAH11):c.3657T>A (p.Pro1219=)
|
rs761230822
|
|
NM_001277115.2(DNAH11):c.3672T>A (p.Thr1224=)
|
|
|
NM_001277115.2(DNAH11):c.3676A>G (p.Lys1226Glu)
|
|
|
NM_001277115.2(DNAH11):c.3684C>A (p.Ile1228=)
|
|
|
NM_001277115.2(DNAH11):c.3684C>G (p.Ile1228Met)
|
|
|
NM_001277115.2(DNAH11):c.3685G>T (p.Ala1229Ser)
|
|
|
NM_001277115.2(DNAH11):c.3693T>C (p.Thr1231=)
|
|
|
NM_001277115.2(DNAH11):c.3696C>T (p.Val1232=)
|
|
|
NM_001277115.2(DNAH11):c.3706G>C (p.Val1236Leu)
|
|
|
NM_001277115.2(DNAH11):c.3711A>G (p.Ser1237=)
|
|
|
NM_001277115.2(DNAH11):c.3717C>G (p.Leu1239=)
|
|
|
NM_001277115.2(DNAH11):c.3723T>C (p.Asn1241=)
|
|
|
NM_001277115.2(DNAH11):c.3740T>C (p.Ile1247Thr)
|
|
|
NM_001277115.2(DNAH11):c.3743G>C (p.Arg1248Thr)
|
|
|
NM_001277115.2(DNAH11):c.3754A>G (p.Ile1252Val)
|
rs752456028
|
|
NM_001277115.2(DNAH11):c.3765+11T>C
|
|
|
NM_001277115.2(DNAH11):c.3765+13C>A
|
|
|
NM_001277115.2(DNAH11):c.3765+14C>G
|
|
|
NM_001277115.2(DNAH11):c.3765+16A>G
|
|
|
NM_001277115.2(DNAH11):c.3765+17G>C
|
|
|
NM_001277115.2(DNAH11):c.3766-11G>T
|
|
|
NM_001277115.2(DNAH11):c.3766-11dup
|
|
|
NM_001277115.2(DNAH11):c.3766-15T>C
|
|
|
NM_001277115.2(DNAH11):c.3766-20_3766-19insC
|
|
|
NM_001277115.2(DNAH11):c.3766-9A>T
|
|
|
NM_001277115.2(DNAH11):c.3783C>T (p.Phe1261=)
|
|
|
NM_001277115.2(DNAH11):c.3785G>T (p.Arg1262Ile)
|
|
|
NM_001277115.2(DNAH11):c.3805G>A (p.Ala1269Thr)
|
|
|
NM_001277115.2(DNAH11):c.3807C>A (p.Ala1269=)
|
|
|
NM_001277115.2(DNAH11):c.3807C>T (p.Ala1269=)
|
|
|
NM_001277115.2(DNAH11):c.3810T>A (p.Pro1270=)
|
|
|
NM_001277115.2(DNAH11):c.3813T>G (p.Leu1271=)
|
|
|
NM_001277115.2(DNAH11):c.3833C>T (p.Pro1278Leu)
|
rs370684371
|
|
NM_001277115.2(DNAH11):c.3834A>G (p.Pro1278=)
|
|
|
NM_001277115.2(DNAH11):c.3835T>C (p.Tyr1279His)
|
|
|
NM_001277115.2(DNAH11):c.3840A>C (p.Thr1280=)
|
|
|
NM_001277115.2(DNAH11):c.3852+19A>C
|
|
|
NM_001277115.2(DNAH11):c.3852+7C>A
|
|
|
NM_001277115.2(DNAH11):c.3853-8C>T
|
|
|
NM_001277115.2(DNAH11):c.3855A>C (p.Ala1285=)
|
|
|
NM_001277115.2(DNAH11):c.3864G>A (p.Glu1288=)
|
|
|
NM_001277115.2(DNAH11):c.3870G>A (p.Glu1290=)
|
|
|
NM_001277115.2(DNAH11):c.3882A>G (p.Glu1294=)
|
|
|
NM_001277115.2(DNAH11):c.3898C>A (p.Gln1300Lys)
|
rs375160708
|
|
NM_001277115.2(DNAH11):c.3912T>A (p.Arg1304=)
|
|
|
NM_001277115.2(DNAH11):c.3919G>C (p.Glu1307Gln)
|
|
|
NM_001277115.2(DNAH11):c.3924G>A (p.Val1308=)
|
|
|
NM_001277115.2(DNAH11):c.3935A>G (p.Glu1312Gly)
|
|
|
NM_001277115.2(DNAH11):c.3969A>G (p.Ile1323Met)
|
|
|
NM_001277115.2(DNAH11):c.3970A>C (p.Lys1324Gln)
|
|
|
NM_001277115.2(DNAH11):c.3973T>C (p.Leu1325=)
|
|
|
NM_001277115.2(DNAH11):c.3980A>G (p.Lys1327Arg)
|
|
|
NM_001277115.2(DNAH11):c.3996C>T (p.Val1332=)
|
|
|
NM_001277115.2(DNAH11):c.39C>T (p.Phe13=)
|
|
|
NM_001277115.2(DNAH11):c.4003T>A (p.Tyr1335Asn)
|
|
|
NM_001277115.2(DNAH11):c.4005T>C (p.Tyr1335=)
|
|
|
NM_001277115.2(DNAH11):c.4011+11C>T
|
|
|
NM_001277115.2(DNAH11):c.4011+16T>A
|
|
|
NM_001277115.2(DNAH11):c.4012-10G>A
|
|
|
NM_001277115.2(DNAH11):c.4012-16G>C
|
|
|
NM_001277115.2(DNAH11):c.4012-18C>T
|
|
|
NM_001277115.2(DNAH11):c.4012-20A>G
|
|
|
NM_001277115.2(DNAH11):c.4012-9C>T
|
|
|
NM_001277115.2(DNAH11):c.4014A>G (p.Arg1338=)
|
|
|
NM_001277115.2(DNAH11):c.4017C>T (p.Ser1339=)
|
|
|
NM_001277115.2(DNAH11):c.4018A>G (p.Ile1340Val)
|
|
|
NM_001277115.2(DNAH11):c.4026T>C (p.Asn1342=)
|
|
|
NM_001277115.2(DNAH11):c.4037C>T (p.Thr1346Ile)
|
|
|
NM_001277115.2(DNAH11):c.4046G>C (p.Arg1349Thr)
|
|
|
NM_001277115.2(DNAH11):c.4047A>G (p.Arg1349=)
|
|
|
NM_001277115.2(DNAH11):c.4052T>A (p.Ile1351Asn)
|
|
|
NM_001277115.2(DNAH11):c.4056T>C (p.His1352=)
|
|
|
NM_001277115.2(DNAH11):c.4062A>G (p.Glu1354=)
|
rs1785778629
|
|
NM_001277115.2(DNAH11):c.4071T>C (p.Asp1357=)
|
|
|
NM_001277115.2(DNAH11):c.4092C>T (p.Ala1364=)
|
|
|
NM_001277115.2(DNAH11):c.4095+10A>G
|
|
|
NM_001277115.2(DNAH11):c.4095+15T>G
|
rs2128452657
|
|
NM_001277115.2(DNAH11):c.4095+19T>C
|
|
|
NM_001277115.2(DNAH11):c.4095+20A>G
|
|
|
NM_001277115.2(DNAH11):c.4096-12A>G
|
|
|
NM_001277115.2(DNAH11):c.4096-13C>T
|
|
|
NM_001277115.2(DNAH11):c.4096-20T>C
|
|
|
NM_001277115.2(DNAH11):c.4096-3del
|
|
|
NM_001277115.2(DNAH11):c.4096-8T>G
|
|
|
NM_001277115.2(DNAH11):c.4106C>T (p.Ser1369Leu)
|
|
|
NM_001277115.2(DNAH11):c.4108C>T (p.Leu1370Phe)
|
|
|
NM_001277115.2(DNAH11):c.4118A>C (p.Glu1373Ala)
|
|
|
NM_001277115.2(DNAH11):c.4123C>G (p.Arg1375Gly)
|
|
|
NM_001277115.2(DNAH11):c.4125C>A (p.Arg1375=)
|
rs570983771
|
|
NM_001277115.2(DNAH11):c.4125C>T (p.Arg1375=)
|
rs570983771
|
|
NM_001277115.2(DNAH11):c.4133A>G (p.Asp1378Gly)
|
|
|
NM_001277115.2(DNAH11):c.4142C>G (p.Thr1381Arg)
|
|
|
NM_001277115.2(DNAH11):c.4147C>T (p.Leu1383=)
|
|
|
NM_001277115.2(DNAH11):c.414A>G (p.Gly138=)
|
|
|
NM_001277115.2(DNAH11):c.4158A>G (p.Thr1386=)
|
|
|
NM_001277115.2(DNAH11):c.4162A>G (p.Lys1388Glu)
|
|
|
NM_001277115.2(DNAH11):c.4164G>A (p.Lys1388=)
|
|
|
NM_001277115.2(DNAH11):c.4164G>T (p.Lys1388Asn)
|
|
|
NM_001277115.2(DNAH11):c.4168A>G (p.Met1390Val)
|
|
|
NM_001277115.2(DNAH11):c.4179C>T (p.Ser1393=)
|
|
|
NM_001277115.2(DNAH11):c.417A>C (p.Val139=)
|
rs1583469182
|
|
NM_001277115.2(DNAH11):c.4180C>T (p.Leu1394=)
|
|
|
NM_001277115.2(DNAH11):c.4181T>A (p.Leu1394Gln)
|
|
|
NM_001277115.2(DNAH11):c.4196A>G (p.Glu1399Gly)
|
|
|
NM_001277115.2(DNAH11):c.4209T>A (p.Pro1403=)
|
|
|
NM_001277115.2(DNAH11):c.4216A>C (p.Arg1406=)
|
|
|
NM_001277115.2(DNAH11):c.4233C>T (p.His1411=)
|
|
|
NM_001277115.2(DNAH11):c.4239G>C (p.Leu1413=)
|
|
|
NM_001277115.2(DNAH11):c.4254+10C>T
|
|
|
NM_001277115.2(DNAH11):c.4254+11T>A
|
|
|
NM_001277115.2(DNAH11):c.4254+12T>C
|
|
|
NM_001277115.2(DNAH11):c.4254+15T>C
|
|
|
NM_001277115.2(DNAH11):c.4254+16C>G
|
|
|
NM_001277115.2(DNAH11):c.4254+16C>T
|
|
|
NM_001277115.2(DNAH11):c.4254+7A>G
|
rs2128453164
|
|
NM_001277115.2(DNAH11):c.4254+9C>G
|
|
|
NM_001277115.2(DNAH11):c.4255-10C>G
|
|
|
NM_001277115.2(DNAH11):c.4255-11C>A
|
|
|
NM_001277115.2(DNAH11):c.4255-12T>C
|
|
|
NM_001277115.2(DNAH11):c.4255-14T>G
|
|
|
NM_001277115.2(DNAH11):c.4255-15T>G
|
|
|
NM_001277115.2(DNAH11):c.4255-17T>C
|
|
|
NM_001277115.2(DNAH11):c.4255-18T>G
|
|
|
NM_001277115.2(DNAH11):c.4255-19C>G
|
|
|
NM_001277115.2(DNAH11):c.4255-5A>T
|
|
|
NM_001277115.2(DNAH11):c.4255-8C>T
|
rs2128453713
|
|
NM_001277115.2(DNAH11):c.426T>C (p.Phe142=)
|
|
|
NM_001277115.2(DNAH11):c.4289C>T (p.Ala1430Val)
|
|
|
NM_001277115.2(DNAH11):c.4296G>C (p.Leu1432Phe)
|
|
|
NM_001277115.2(DNAH11):c.429T>A (p.Ser143=)
|
|
|
NM_001277115.2(DNAH11):c.429T>C (p.Ser143=)
|
|
|
NM_001277115.2(DNAH11):c.4306C>G (p.Arg1436Gly)
|
|
|
NM_001277115.2(DNAH11):c.4308G>A (p.Arg1436=)
|
|
|
NM_001277115.2(DNAH11):c.4312C>T (p.His1438Tyr)
|
|
|
NM_001277115.2(DNAH11):c.4314C>T (p.His1438=)
|
|
|
NM_001277115.2(DNAH11):c.4329T>C (p.Asp1443=)
|
|
|
NM_001277115.2(DNAH11):c.4331T>C (p.Val1444Ala)
|
|
|
NM_001277115.2(DNAH11):c.4332C>G (p.Val1444=)
|
|
|
NM_001277115.2(DNAH11):c.4337G>C (p.Arg1446Thr)
|
|
|
NM_001277115.2(DNAH11):c.4365G>A (p.Leu1455=)
|
|
|
NM_001277115.2(DNAH11):c.4368G>A (p.Gly1456=)
|
|
|
NM_001277115.2(DNAH11):c.4370C>G (p.Thr1457Ser)
|
|
|
NM_001277115.2(DNAH11):c.4377+12G>A
|
|
|
NM_001277115.2(DNAH11):c.4377+12G>C
|
|
|
NM_001277115.2(DNAH11):c.4377+14G>T
|
|
|
NM_001277115.2(DNAH11):c.4377+16C>T
|
|
|
NM_001277115.2(DNAH11):c.4377+7T>G
|
|
|
NM_001277115.2(DNAH11):c.4377+9C>T
|
|
|
NM_001277115.2(DNAH11):c.4378-15A>G
|
|
|
NM_001277115.2(DNAH11):c.4378-17_4378-16insATTTA
|
rs57952953
|
|
NM_001277115.2(DNAH11):c.4378-17_4378-16insATTTG
|
|
|
NM_001277115.2(DNAH11):c.4378-18dup
|
|
|
NM_001277115.2(DNAH11):c.4378-19_4378-18insCAATT
|
|
|
NM_001277115.2(DNAH11):c.4378-5A>C
|
rs980220652
|
|
NM_001277115.2(DNAH11):c.4381A>G (p.Ile1461Val)
|
|
|
NM_001277115.2(DNAH11):c.4394G>T (p.Ser1465Ile)
|
|
|
NM_001277115.2(DNAH11):c.4401C>T (p.Thr1467=)
|
|
|
NM_001277115.2(DNAH11):c.4411A>G (p.Met1471Val)
|
|
|
NM_001277115.2(DNAH11):c.4421C>T (p.Ser1474Phe)
|
|
|
NM_001277115.2(DNAH11):c.4426G>A (p.Glu1476Lys)
|
|
|
NM_001277115.2(DNAH11):c.4450C>A (p.Pro1484Thr)
|
|
|
NM_001277115.2(DNAH11):c.4452A>C (p.Pro1484=)
|
|
|
NM_001277115.2(DNAH11):c.4458A>G (p.Leu1486=)
|
|
|
NM_001277115.2(DNAH11):c.4467T>C (p.Asp1489=)
|
|
|
NM_001277115.2(DNAH11):c.4473A>G (p.Gln1491=)
|
|
|
NM_001277115.2(DNAH11):c.4477T>C (p.Phe1493Leu)
|
|
|
NM_001277115.2(DNAH11):c.447A>G (p.Gly149=)
|
rs886062170
|
|
NM_001277115.2(DNAH11):c.4488A>G (p.Leu1496=)
|
|
|
NM_001277115.2(DNAH11):c.44A>T (p.Glu15Val)
|
|
|
NM_001277115.2(DNAH11):c.4500+14T>A
|
|
|
NM_001277115.2(DNAH11):c.4500+18A>G
|
|
|
NM_001277115.2(DNAH11):c.4500+19T>C
|
|
|
NM_001277115.2(DNAH11):c.4500+20T>A
|
|
|
NM_001277115.2(DNAH11):c.4500+9G>A
|
|
|
NM_001277115.2(DNAH11):c.4500+9G>C
|
|
|
NM_001277115.2(DNAH11):c.4501-11C>T
|
|
|
NM_001277115.2(DNAH11):c.4501-12C>G
|
|
|
NM_001277115.2(DNAH11):c.4501-13G>C
|
|
|
NM_001277115.2(DNAH11):c.4501-19T>C
|
|
|
NM_001277115.2(DNAH11):c.4501-20A>G
|
|
|
NM_001277115.2(DNAH11):c.4501-20A>T
|
|
|
NM_001277115.2(DNAH11):c.4501-8dup
|
|
|
NM_001277115.2(DNAH11):c.4503T>C (p.Val1501=)
|
|
|
NM_001277115.2(DNAH11):c.4515T>C (p.Thr1505=)
|
|
|
NM_001277115.2(DNAH11):c.4522C>A (p.Gln1508Lys)
|
|
|
NM_001277115.2(DNAH11):c.4525A>G (p.Ser1509Gly)
|
|
|
NM_001277115.2(DNAH11):c.4530G>A (p.Lys1510=)
|
|
|
NM_001277115.2(DNAH11):c.4532A>G (p.Tyr1511Cys)
|
|
|
NM_001277115.2(DNAH11):c.4536A>G (p.Val1512=)
|
|
|
NM_001277115.2(DNAH11):c.4544T>G (p.Phe1515Cys)
|
|
|
NM_001277115.2(DNAH11):c.4545C>T (p.Phe1515=)
|
|
|
NM_001277115.2(DNAH11):c.4547T>C (p.Ile1516Thr)
|
|
|
NM_001277115.2(DNAH11):c.454C>A (p.Pro152Thr)
|
|
|
NM_001277115.2(DNAH11):c.4575A>G (p.Lys1525=)
|
|
|
NM_001277115.2(DNAH11):c.4576T>A (p.Leu1526Ile)
|
|
|
NM_001277115.2(DNAH11):c.4580A>G (p.Asn1527Ser)
|
|
|
NM_001277115.2(DNAH11):c.4581C>T (p.Asn1527=)
|
|
|
NM_001277115.2(DNAH11):c.4582A>G (p.Ile1528Val)
|
|
|
NM_001277115.2(DNAH11):c.4590C>T (p.Asp1530=)
|
|
|
NM_001277115.2(DNAH11):c.4599C>T (p.Ile1533=)
|
|
|
NM_001277115.2(DNAH11):c.4611G>A (p.Met1537Ile)
|
|
|
NM_001277115.2(DNAH11):c.4621C>A (p.Arg1541=)
|
rs757013900
|
|
NM_001277115.2(DNAH11):c.4625C>T (p.Thr1542Ile)
|
|
|
NM_001277115.2(DNAH11):c.4644C>T (p.Ser1548=)
|
|
|
NM_001277115.2(DNAH11):c.4664A>G (p.Asp1555Gly)
|
|
|
NM_001277115.2(DNAH11):c.4668T>G (p.Ile1556Met)
|
|
|
NM_001277115.2(DNAH11):c.4671A>G (p.Arg1557=)
|
|
|
NM_001277115.2(DNAH11):c.4683G>A (p.Val1561=)
|
|
|
NM_001277115.2(DNAH11):c.4688A>G (p.Asp1563Gly)
|
|
|
NM_001277115.2(DNAH11):c.4689T>C (p.Asp1563=)
|
|
|
NM_001277115.2(DNAH11):c.4707G>C (p.Gly1569=)
|
rs780784315
|
|
NM_001277115.2(DNAH11):c.4725+13C>G
|
|
|
NM_001277115.2(DNAH11):c.4725+16G>T
|
|
|
NM_001277115.2(DNAH11):c.4725+9A>G
|
|
|
NM_001277115.2(DNAH11):c.4726-16T>C
|
|
|
NM_001277115.2(DNAH11):c.4726-18T>A
|
|
|
NM_001277115.2(DNAH11):c.4726-19G>A
|
|
|
NM_001277115.2(DNAH11):c.4726-20C>T
|
|
|
NM_001277115.2(DNAH11):c.4726-5T>C
|
|
|
NM_001277115.2(DNAH11):c.4728G>A (p.Glu1576=)
|
|
|
NM_001277115.2(DNAH11):c.473A>G (p.His158Arg)
|
|
|
NM_001277115.2(DNAH11):c.4748A>G (p.Lys1583Arg)
|
|
|
NM_001277115.2(DNAH11):c.4761G>A (p.Val1587=)
|
|
|
NM_001277115.2(DNAH11):c.476T>C (p.Val159Ala)
|
|
|
NM_001277115.2(DNAH11):c.4773G>T (p.Thr1591=)
|
|
|
NM_001277115.2(DNAH11):c.477A>G (p.Val159=)
|
|
|
NM_001277115.2(DNAH11):c.4785T>C (p.Asn1595=)
|
|
|
NM_001277115.2(DNAH11):c.4786C>T (p.Leu1596Phe)
|
|
|
NM_001277115.2(DNAH11):c.4802A>G (p.Lys1601Arg)
|
|
|
NM_001277115.2(DNAH11):c.4809A>G (p.Leu1603=)
|
rs2128459924
|
|
NM_001277115.2(DNAH11):c.4815C>T (p.Ser1605=)
|
|
|
NM_001277115.2(DNAH11):c.4817+12G>A
|
|
|
NM_001277115.2(DNAH11):c.4817+12G>T
|
|
|
NM_001277115.2(DNAH11):c.4817+13C>A
|
|
|
NM_001277115.2(DNAH11):c.4817+14T>A
|
|
|
NM_001277115.2(DNAH11):c.4817+15A>G
|
rs1411925317
|
|
NM_001277115.2(DNAH11):c.4817+17A>G
|
|
|
NM_001277115.2(DNAH11):c.4817+7A>T
|
rs563875721
|
|
NM_001277115.2(DNAH11):c.4818-10A>T
|
|
|
NM_001277115.2(DNAH11):c.4818-13T>G
|
|
|
NM_001277115.2(DNAH11):c.4818-17A>G
|
|
|
NM_001277115.2(DNAH11):c.4818-20A>C
|
|
|
NM_001277115.2(DNAH11):c.4818-5T>C
|
|
|
NM_001277115.2(DNAH11):c.4818-6A>G
|
|
|
NM_001277115.2(DNAH11):c.4818-6A>T
|
rs764444413
|
|
NM_001277115.2(DNAH11):c.4818-8T>G
|
|
|
NM_001277115.2(DNAH11):c.4824T>C (p.Ser1608=)
|
|
|
NM_001277115.2(DNAH11):c.4843G>A (p.Ala1615Thr)
|
|
|
NM_001277115.2(DNAH11):c.4845T>C (p.Ala1615=)
|
|
|
NM_001277115.2(DNAH11):c.4860C>G (p.Thr1620=)
|
|
|
NM_001277115.2(DNAH11):c.4860C>T (p.Thr1620=)
|
|
|
NM_001277115.2(DNAH11):c.4867A>G (p.Ile1623Val)
|
|
|
NM_001277115.2(DNAH11):c.486C>T (p.Phe162=)
|
|
|
NM_001277115.2(DNAH11):c.4876C>G (p.Pro1626Ala)
|
|
|
NM_001277115.2(DNAH11):c.4899T>A (p.Ser1633=)
|
|
|
NM_001277115.2(DNAH11):c.4908A>G (p.Leu1636=)
|
|
|
NM_001277115.2(DNAH11):c.4910T>G (p.Leu1637Arg)
|
|
|
NM_001277115.2(DNAH11):c.4915A>C (p.Ile1639Leu)
|
|
|
NM_001277115.2(DNAH11):c.491A>G (p.Asp164Gly)
|
|
|
NM_001277115.2(DNAH11):c.491A>T (p.Asp164Val)
|
rs1342908676
|
|
NM_001277115.2(DNAH11):c.4920C>G (p.Leu1640=)
|
|
|
NM_001277115.2(DNAH11):c.4932T>C (p.Ala1644=)
|
|
|
NM_001277115.2(DNAH11):c.4944+14T>C
|
|
|
NM_001277115.2(DNAH11):c.4944+16A>G
|
|
|
NM_001277115.2(DNAH11):c.4944+7T>C
|
rs1787002901
|
|
NM_001277115.2(DNAH11):c.4945-10C>T
|
|
|
NM_001277115.2(DNAH11):c.4945-13A>G
|
|
|
NM_001277115.2(DNAH11):c.4945-15A>T
|
rs373118205
|
|
NM_001277115.2(DNAH11):c.4945-16A>G
|
|
|
NM_001277115.2(DNAH11):c.4945-6T>C
|
|
|
NM_001277115.2(DNAH11):c.4945-8C>T
|
|
|
NM_001277115.2(DNAH11):c.4945-8del
|
|
|
NM_001277115.2(DNAH11):c.4949C>T (p.Thr1650Ile)
|
rs1374375239
|
|
NM_001277115.2(DNAH11):c.495+11G>A
|
|
|
NM_001277115.2(DNAH11):c.495+11G>T
|
|
|
NM_001277115.2(DNAH11):c.495+16T>G
|
|
|
NM_001277115.2(DNAH11):c.495+17A>C
|
|
|
NM_001277115.2(DNAH11):c.495+18A>T
|
|
|
NM_001277115.2(DNAH11):c.495+19T>G
|
|
|
NM_001277115.2(DNAH11):c.495+20A>G
|
|
|
NM_001277115.2(DNAH11):c.4956C>T (p.His1652=)
|
|
|
NM_001277115.2(DNAH11):c.496-12C>G
|
|
|
NM_001277115.2(DNAH11):c.496-18A>G
|
|
|
NM_001277115.2(DNAH11):c.4962C>T (p.Ala1654=)
|
|
|
NM_001277115.2(DNAH11):c.4977C>T (p.Ser1659=)
|
|
|
NM_001277115.2(DNAH11):c.4978A>G (p.Ile1660Val)
|
|
|
NM_001277115.2(DNAH11):c.4992G>A (p.Gln1664=)
|
|
|
NM_001277115.2(DNAH11):c.4995T>G (p.Phe1665Leu)
|
rs1421038751
|
|
NM_001277115.2(DNAH11):c.4998A>G (p.Glu1666=)
|
|
|
NM_001277115.2(DNAH11):c.5009A>G (p.Asp1670Gly)
|
|
|
NM_001277115.2(DNAH11):c.5019A>C (p.Ala1673=)
|
|
|
NM_001277115.2(DNAH11):c.5043C>T (p.Ser1681=)
|
|
|
NM_001277115.2(DNAH11):c.5067C>A (p.Phe1689Leu)
|
|
|
NM_001277115.2(DNAH11):c.5067C>T (p.Phe1689=)
|
|
|
NM_001277115.2(DNAH11):c.5073C>T (p.Ala1691=)
|
|
|
NM_001277115.2(DNAH11):c.5076G>A (p.Glu1692=)
|
|
|
NM_001277115.2(DNAH11):c.5078G>C (p.Cys1693Ser)
|
|
|
NM_001277115.2(DNAH11):c.507A>C (p.Pro169=)
|
|
|
NM_001277115.2(DNAH11):c.5094+20T>C
|
|
|
NM_001277115.2(DNAH11):c.5094+20T>G
|
|
|
NM_001277115.2(DNAH11):c.5094+8T>C
|
|
|
NM_001277115.2(DNAH11):c.5095-6C>T
|
|
|
NM_001277115.2(DNAH11):c.5115A>G (p.Gln1705=)
|
|
|
NM_001277115.2(DNAH11):c.5121A>G (p.Glu1707=)
|
|
|
NM_001277115.2(DNAH11):c.5136A>G (p.Glu1712=)
|
|
|
NM_001277115.2(DNAH11):c.5139G>A (p.Thr1713=)
|
|
|
NM_001277115.2(DNAH11):c.5139G>C (p.Thr1713=)
|
|
|
NM_001277115.2(DNAH11):c.5144G>C (p.Arg1715Pro)
|
|
|
NM_001277115.2(DNAH11):c.5157A>C (p.Thr1719=)
|
|
|
NM_001277115.2(DNAH11):c.5157A>G (p.Thr1719=)
|
rs149538783
|
|
NM_001277115.2(DNAH11):c.5163C>T (p.Ala1721=)
|
|
|
NM_001277115.2(DNAH11):c.5165T>C (p.Ile1722Thr)
|
|
|
NM_001277115.2(DNAH11):c.5172C>T (p.Ala1724=)
|
|
|
NM_001277115.2(DNAH11):c.5187T>C (p.Pro1729=)
|
|
|
NM_001277115.2(DNAH11):c.5192A>T (p.Glu1731Val)
|
|
|
NM_001277115.2(DNAH11):c.51G>A (p.Pro17=)
|
rs1402035790
|
|
NM_001277115.2(DNAH11):c.5206G>T (p.Asp1736Tyr)
|
|
|
NM_001277115.2(DNAH11):c.5226A>C (p.Ala1742=)
|
|
|
NM_001277115.2(DNAH11):c.5226A>G (p.Ala1742=)
|
|
|
NM_001277115.2(DNAH11):c.522G>T (p.Lys174Asn)
|
|
|
NM_001277115.2(DNAH11):c.5232C>T (p.Thr1744=)
|
|
|
NM_001277115.2(DNAH11):c.5235C>T (p.Ser1745=)
|
|
|
NM_001277115.2(DNAH11):c.5242A>G (p.Ile1748Val)
|
|
|
NM_001277115.2(DNAH11):c.5253C>A (p.Thr1751=)
|
|
|
NM_001277115.2(DNAH11):c.5262A>C (p.Val1754=)
|
|
|
NM_001277115.2(DNAH11):c.5262A>G (p.Val1754=)
|
|
|
NM_001277115.2(DNAH11):c.5279G>A (p.Arg1760Lys)
|
|
|
NM_001277115.2(DNAH11):c.5281C>A (p.Leu1761Met)
|
|
|
NM_001277115.2(DNAH11):c.5292C>A (p.Gly1764=)
|
|
|
NM_001277115.2(DNAH11):c.529C>G (p.His177Asp)
|
|
|
NM_001277115.2(DNAH11):c.529C>T (p.His177Tyr)
|
|
|
NM_001277115.2(DNAH11):c.5307G>A (p.Leu1769=)
|
|
|
NM_001277115.2(DNAH11):c.530A>G (p.His177Arg)
|
|
|
NM_001277115.2(DNAH11):c.5310G>A (p.Lys1770=)
|
|
|
NM_001277115.2(DNAH11):c.5313T>C (p.Asp1771=)
|
|
|
NM_001277115.2(DNAH11):c.5328+10A>G
|
|
|
NM_001277115.2(DNAH11):c.5328+12A>G
|
|
|
NM_001277115.2(DNAH11):c.5328+15T>G
|
|
|
NM_001277115.2(DNAH11):c.5328+15TG[3]
|
|
|
NM_001277115.2(DNAH11):c.5328+16G>A
|
|
|
NM_001277115.2(DNAH11):c.5328+17T>C
|
|
|
NM_001277115.2(DNAH11):c.5328+20T>C
|
|
|
NM_001277115.2(DNAH11):c.5329-11A>G
|
|
|
NM_001277115.2(DNAH11):c.5329-12G>T
|
|
|
NM_001277115.2(DNAH11):c.5329-16A>C
|
|
|
NM_001277115.2(DNAH11):c.5329-19A>G
|
|
|
NM_001277115.2(DNAH11):c.5329-4C>A
|
|
|
NM_001277115.2(DNAH11):c.5329-6T>G
|
|
|
NM_001277115.2(DNAH11):c.5338C>T (p.Leu1780=)
|
|
|
NM_001277115.2(DNAH11):c.5355A>C (p.Thr1785=)
|
|
|
NM_001277115.2(DNAH11):c.5367A>G (p.Gly1789=)
|
|
|
NM_001277115.2(DNAH11):c.5370A>G (p.Glu1790=)
|
|
|
NM_001277115.2(DNAH11):c.5376A>G (p.Pro1792=)
|
|
|
NM_001277115.2(DNAH11):c.5381G>C (p.Gly1794Ala)
|
|
|
NM_001277115.2(DNAH11):c.5385C>G (p.Asp1795Glu)
|
rs2128472348
|
|
NM_001277115.2(DNAH11):c.5394G>A (p.Lys1798=)
|
rs1214029970
|
|
NM_001277115.2(DNAH11):c.5418T>C (p.Asp1806=)
|
|
|
NM_001277115.2(DNAH11):c.5421C>A (p.Val1807=)
|
|
|
NM_001277115.2(DNAH11):c.5427C>T (p.Ala1809=)
|
rs372177670
|
|
NM_001277115.2(DNAH11):c.5429G>A (p.Arg1810Lys)
|
|
|
NM_001277115.2(DNAH11):c.5444A>G (p.Lys1815Arg)
|
|
|
NM_001277115.2(DNAH11):c.5448T>A (p.Leu1816=)
|
|
|
NM_001277115.2(DNAH11):c.5460+11T>C
|
|
|
NM_001277115.2(DNAH11):c.5460+15G>C
|
|
|
NM_001277115.2(DNAH11):c.5461-12C>T
|
|
|
NM_001277115.2(DNAH11):c.5461-13G>A
|
|
|
NM_001277115.2(DNAH11):c.5461-16T>G
|
|
|
NM_001277115.2(DNAH11):c.5461-18A>G
|
|
|
NM_001277115.2(DNAH11):c.5461-19G>T
|
|
|
NM_001277115.2(DNAH11):c.5461-8G>T
|
|
|
NM_001277115.2(DNAH11):c.5466C>A (p.Val1822=)
|
|
|
NM_001277115.2(DNAH11):c.5496A>G (p.Gln1832=)
|
|
|
NM_001277115.2(DNAH11):c.5506C>A (p.Arg1836=)
|
|
|
NM_001277115.2(DNAH11):c.5511G>T (p.Trp1837Cys)
|
|
|
NM_001277115.2(DNAH11):c.5513A>G (p.Glu1838Gly)
|
|
|
NM_001277115.2(DNAH11):c.5520C>A (p.Thr1840=)
|
|
|
NM_001277115.2(DNAH11):c.5526A>G (p.Lys1842=)
|
rs2128473055
|
|
NM_001277115.2(DNAH11):c.5568C>A (p.Phe1856Leu)
|
|
|
NM_001277115.2(DNAH11):c.5583A>C (p.Gly1861=)
|
|
|
NM_001277115.2(DNAH11):c.5584A>G (p.Asn1862Asp)
|
|
|
NM_001277115.2(DNAH11):c.5594G>A (p.Arg1865Gln)
|
|
|
NM_001277115.2(DNAH11):c.5595A>G (p.Arg1865=)
|
|
|
NM_001277115.2(DNAH11):c.5601G>C (p.Val1867=)
|
|
|
NM_001277115.2(DNAH11):c.560A>G (p.Asp187Gly)
|
|
|
NM_001277115.2(DNAH11):c.5613A>G (p.Leu1871=)
|
rs546155868
|
|
NM_001277115.2(DNAH11):c.5621+17T>G
|
|
|
NM_001277115.2(DNAH11):c.5621+18C>A
|
|
|
NM_001277115.2(DNAH11):c.5621+20G>A
|
rs372643687
|
|
NM_001277115.2(DNAH11):c.5621+20G>C
|
|
|
NM_001277115.2(DNAH11):c.5621+20G>T
|
|
|
NM_001277115.2(DNAH11):c.5622-11A>C
|
|
|
NM_001277115.2(DNAH11):c.5622-11A>G
|
|
|
NM_001277115.2(DNAH11):c.5622-13C>G
|
|
|
NM_001277115.2(DNAH11):c.5622-4A>G
|
|
|
NM_001277115.2(DNAH11):c.562A>G (p.Met188Val)
|
|
|
NM_001277115.2(DNAH11):c.5631T>C (p.Ile1877=)
|
|
|
NM_001277115.2(DNAH11):c.5634C>A (p.Thr1878=)
|
|
|
NM_001277115.2(DNAH11):c.5643A>G (p.Gln1881=)
|
|
|
NM_001277115.2(DNAH11):c.5649T>G (p.Leu1883=)
|
|
|
NM_001277115.2(DNAH11):c.5670T>C (p.Ala1890=)
|
|
|
NM_001277115.2(DNAH11):c.5674G>A (p.Ala1892Thr)
|
|
|
NM_001277115.2(DNAH11):c.5675C>A (p.Ala1892Asp)
|
rs534484091
|
|
NM_001277115.2(DNAH11):c.5679C>T (p.Gly1893=)
|
|
|
NM_001277115.2(DNAH11):c.5688T>C (p.Gly1896=)
|
|
|
NM_001277115.2(DNAH11):c.5690C>T (p.Thr1897Ile)
|
|
|
NM_001277115.2(DNAH11):c.5691C>G (p.Thr1897=)
|
|
|
NM_001277115.2(DNAH11):c.5692G>A (p.Gly1898Arg)
|
|
|
NM_001277115.2(DNAH11):c.5694G>A (p.Gly1898=)
|
|
|
NM_001277115.2(DNAH11):c.5706C>T (p.Thr1902=)
|
|
|
NM_001277115.2(DNAH11):c.570T>C (p.Tyr190=)
|
|
|
NM_001277115.2(DNAH11):c.5715C>T (p.Asp1905=)
|
|
|
NM_001277115.2(DNAH11):c.5726C>T (p.Ala1909Val)
|
|
|
NM_001277115.2(DNAH11):c.5728C>G (p.Leu1910Val)
|
|
|
NM_001277115.2(DNAH11):c.5737A>G (p.Met1913Val)
|
|
|
NM_001277115.2(DNAH11):c.5739G>A (p.Met1913Ile)
|
|
|
NM_001277115.2(DNAH11):c.5740G>A (p.Val1914Ile)
|
|
|
NM_001277115.2(DNAH11):c.5742C>T (p.Val1914=)
|
|
|
NM_001277115.2(DNAH11):c.5744A>G (p.Tyr1915Cys)
|
|
|
NM_001277115.2(DNAH11):c.5748A>G (p.Val1916=)
|
rs2128473955
|
|
NM_001277115.2(DNAH11):c.5778+10_5778+13del
|
|
|
NM_001277115.2(DNAH11):c.5778+12A>G
|
|
|
NM_001277115.2(DNAH11):c.5778+13G>A
|
|
|
NM_001277115.2(DNAH11):c.5778+7_5778+10del
|
|
|
NM_001277115.2(DNAH11):c.5779-14A>G
|
|
|
NM_001277115.2(DNAH11):c.5779-15C>T
|
|
|
NM_001277115.2(DNAH11):c.5779-16T>A
|
|
|
NM_001277115.2(DNAH11):c.5779-6A>G
|
|
|
NM_001277115.2(DNAH11):c.5779-9A>C
|
|
|
NM_001277115.2(DNAH11):c.5787C>A (p.Gly1929=)
|
|
|
NM_001277115.2(DNAH11):c.5790T>C (p.Asn1930=)
|
|
|
NM_001277115.2(DNAH11):c.5791A>G (p.Ile1931Val)
|
|
|
NM_001277115.2(DNAH11):c.5796T>C (p.Tyr1932=)
|
rs1783424152
|
|
NM_001277115.2(DNAH11):c.5802A>G (p.Gly1934=)
|
|
|
NM_001277115.2(DNAH11):c.5806G>T (p.Val1936Leu)
|
|
|
NM_001277115.2(DNAH11):c.5826C>T (p.Gly1942=)
|
|
|
NM_001277115.2(DNAH11):c.5843A>C (p.Asn1948Thr)
|
rs754385182
|
|
NM_001277115.2(DNAH11):c.5843A>G (p.Asn1948Ser)
|
|
|
NM_001277115.2(DNAH11):c.5845C>A (p.Arg1949=)
|
rs372143147
|
|
NM_001277115.2(DNAH11):c.5859A>G (p.Glu1953=)
|
|
|
NM_001277115.2(DNAH11):c.5865G>A (p.Leu1955=)
|
|
|
NM_001277115.2(DNAH11):c.5865G>T (p.Leu1955=)
|
|
|
NM_001277115.2(DNAH11):c.5883A>G (p.Gln1961=)
|
|
|
NM_001277115.2(DNAH11):c.5886G>C (p.Val1962=)
|
|
|
NM_001277115.2(DNAH11):c.5886G>T (p.Val1962=)
|
|
|
NM_001277115.2(DNAH11):c.5907C>T (p.Ile1969=)
|
|
|
NM_001277115.2(DNAH11):c.5924+10A>G
|
|
|
NM_001277115.2(DNAH11):c.5924+10A>T
|
|
|
NM_001277115.2(DNAH11):c.5924+11T>G
|
|
|
NM_001277115.2(DNAH11):c.5924+12G>T
|
|
|
NM_001277115.2(DNAH11):c.5924+16G>A
|
|
|
NM_001277115.2(DNAH11):c.5924+20T>C
|
|
|
NM_001277115.2(DNAH11):c.5924+7G>A
|
|
|
NM_001277115.2(DNAH11):c.5925-10T>C
|
|
|
NM_001277115.2(DNAH11):c.5925-13_5925-12del
|
|
|
NM_001277115.2(DNAH11):c.5925-18del
|
|
|
NM_001277115.2(DNAH11):c.5925-19A>G
|
|
|
NM_001277115.2(DNAH11):c.5925-7A>G
|
|
|
NM_001277115.2(DNAH11):c.5934T>C (p.Phe1978=)
|
|
|
NM_001277115.2(DNAH11):c.5940G>A (p.Gly1980=)
|
|
|
NM_001277115.2(DNAH11):c.5946T>C (p.Ala1982=)
|
|
|
NM_001277115.2(DNAH11):c.5947A>G (p.Ile1983Val)
|
|
|
NM_001277115.2(DNAH11):c.594G>A (p.Lys198=)
|
|
|
NM_001277115.2(DNAH11):c.5961A>G (p.Pro1987=)
|
|
|
NM_001277115.2(DNAH11):c.5974T>C (p.Phe1992Leu)
|
|
|
NM_001277115.2(DNAH11):c.5984T>C (p.Met1995Thr)
|
rs1465555535
|
|
NM_001277115.2(DNAH11):c.5990C>A (p.Pro1997Gln)
|
|
|
NM_001277115.2(DNAH11):c.6003T>C (p.Gly2001=)
|
|
|
NM_001277115.2(DNAH11):c.6004C>A (p.Arg2002=)
|
|
|
NM_001277115.2(DNAH11):c.6009C>G (p.Thr2003=)
|
|
|
NM_001277115.2(DNAH11):c.6009C>T (p.Thr2003=)
|
|
|
NM_001277115.2(DNAH11):c.6031G>A (p.Ala2011Thr)
|
|
|
NM_001277115.2(DNAH11):c.6041+10A>C
|
|
|
NM_001277115.2(DNAH11):c.6041+10A>G
|
|
|
NM_001277115.2(DNAH11):c.6041+11T>C
|
|
|
NM_001277115.2(DNAH11):c.6041+11T>G
|
|
|
NM_001277115.2(DNAH11):c.6041+11del
|
|
|
NM_001277115.2(DNAH11):c.6041+13C>T
|
|
|
NM_001277115.2(DNAH11):c.6041+15T>C
|
|
|
NM_001277115.2(DNAH11):c.6041+16T>C
|
|
|
NM_001277115.2(DNAH11):c.6041+20G>A
|
|
|
NM_001277115.2(DNAH11):c.6041+7G>A
|
|
|
NM_001277115.2(DNAH11):c.6041+9_6041+10insGTGGC
|
|
|
NM_001277115.2(DNAH11):c.6042-14T>C
|
|
|
NM_001277115.2(DNAH11):c.6042-15T>C
|
|
|
NM_001277115.2(DNAH11):c.6042-18T>C
|
|
|
NM_001277115.2(DNAH11):c.6042-4T>A
|
|
|
NM_001277115.2(DNAH11):c.6042-7T>A
|
|
|
NM_001277115.2(DNAH11):c.6042-8C>A
|
|
|
NM_001277115.2(DNAH11):c.6060C>A (p.Ala2020=)
|
|
|
NM_001277115.2(DNAH11):c.6060C>G (p.Ala2020=)
|
|
|
NM_001277115.2(DNAH11):c.6060C>T (p.Ala2020=)
|
|
|
NM_001277115.2(DNAH11):c.6073C>G (p.Leu2025Val)
|
|
|
NM_001277115.2(DNAH11):c.6073C>T (p.Leu2025=)
|
rs368561050
|
|
NM_001277115.2(DNAH11):c.6078C>G (p.Ile2026Met)
|
|
|
NM_001277115.2(DNAH11):c.6078C>T (p.Ile2026=)
|
|
|
NM_001277115.2(DNAH11):c.6088T>C (p.Leu2030=)
|
|
|
NM_001277115.2(DNAH11):c.6090G>A (p.Leu2030=)
|
|
|
NM_001277115.2(DNAH11):c.6099T>C (p.Ala2033=)
|
|
|
NM_001277115.2(DNAH11):c.609G>A (p.Arg203=)
|
rs764725981
|
|
NM_001277115.2(DNAH11):c.610G>A (p.Gly204Ser)
|
|
|
NM_001277115.2(DNAH11):c.6120T>C (p.Arg2040=)
|
|
|
NM_001277115.2(DNAH11):c.6121G>T (p.Ala2041Ser)
|
|
|
NM_001277115.2(DNAH11):c.6123A>G (p.Ala2041=)
|
|
|
NM_001277115.2(DNAH11):c.612C>A (p.Gly204=)
|
rs762175035
|
|
NM_001277115.2(DNAH11):c.6139A>C (p.Ile2047Leu)
|
|
|
NM_001277115.2(DNAH11):c.6144G>A (p.Thr2048=)
|
|
|
NM_001277115.2(DNAH11):c.614A>C (p.Lys205Thr)
|
|
|
NM_001277115.2(DNAH11):c.6150C>T (p.Tyr2050=)
|
|
|
NM_001277115.2(DNAH11):c.6153G>A (p.Thr2051=)
|
|
|
NM_001277115.2(DNAH11):c.6161A>T (p.Lys2054Met)
|
|
|
NM_001277115.2(DNAH11):c.6162G>A (p.Lys2054=)
|
|
|
NM_001277115.2(DNAH11):c.617T>A (p.Met206Lys)
|
|
|
NM_001277115.2(DNAH11):c.6180+10C>T
|
|
|
NM_001277115.2(DNAH11):c.6180+14T>C
|
|
|
NM_001277115.2(DNAH11):c.6180+14T>G
|
|
|
NM_001277115.2(DNAH11):c.6180+18dup
|
|
|
NM_001277115.2(DNAH11):c.6180+19C>G
|
|
|
NM_001277115.2(DNAH11):c.6180+19C>T
|
|
|
NM_001277115.2(DNAH11):c.6180+20G>A
|
|
|
NM_001277115.2(DNAH11):c.6180+20G>T
|
|
|
NM_001277115.2(DNAH11):c.6180+8A>G
|
|
|
NM_001277115.2(DNAH11):c.6180+9T>C
|
|
|
NM_001277115.2(DNAH11):c.6181-13G>C
|
|
|
NM_001277115.2(DNAH11):c.6181-16C>A
|
|
|
NM_001277115.2(DNAH11):c.6181-16C>T
|
|
|
NM_001277115.2(DNAH11):c.6181-19A>C
|
|
|
NM_001277115.2(DNAH11):c.6181-21_6181-17del
|
|
|
NM_001277115.2(DNAH11):c.6181-8G>A
|
|
|
NM_001277115.2(DNAH11):c.6210T>G (p.Ile2070Met)
|
|
|
NM_001277115.2(DNAH11):c.6231T>C (p.Ala2077=)
|
|
|
NM_001277115.2(DNAH11):c.6240G>C (p.Leu2080=)
|
|
|
NM_001277115.2(DNAH11):c.6247G>A (p.Gly2083Arg)
|
|
|
NM_001277115.2(DNAH11):c.6250G>C (p.Asp2084His)
|
|
|
NM_001277115.2(DNAH11):c.6261A>G (p.Arg2087=)
|
|
|
NM_001277115.2(DNAH11):c.6273+12C>A
|
|
|
NM_001277115.2(DNAH11):c.6273+14A>G
|
|
|
NM_001277115.2(DNAH11):c.6273+15A>G
|
|
|
NM_001277115.2(DNAH11):c.6273+18T>A
|
|
|
NM_001277115.2(DNAH11):c.6273+8A>G
|
|
|
NM_001277115.2(DNAH11):c.6273+9A>C
|
rs192777767
|
|
NM_001277115.2(DNAH11):c.6274-11T>G
|
|
|
NM_001277115.2(DNAH11):c.6274-12T>G
|
|
|
NM_001277115.2(DNAH11):c.6274-14del
|
|
|
NM_001277115.2(DNAH11):c.6274-17A>G
|
|
|
NM_001277115.2(DNAH11):c.6274-5dup
|
|
|
NM_001277115.2(DNAH11):c.6279C>A (p.Leu2093=)
|
|
|
NM_001277115.2(DNAH11):c.6279C>T (p.Leu2093=)
|
|
|
NM_001277115.2(DNAH11):c.6283A>G (p.Arg2095Gly)
|
|
|
NM_001277115.2(DNAH11):c.6288A>C (p.Ala2096=)
|
|
|
NM_001277115.2(DNAH11):c.6294G>A (p.Arg2098=)
|
|
|
NM_001277115.2(DNAH11):c.6297T>C (p.Asp2099=)
|
|
|
NM_001277115.2(DNAH11):c.6303T>A (p.Asn2101Lys)
|
|
|
NM_001277115.2(DNAH11):c.6303T>C (p.Asn2101=)
|
rs367634158
|
|
NM_001277115.2(DNAH11):c.6321T>C (p.Thr2107=)
|
|
|
NM_001277115.2(DNAH11):c.6324C>T (p.Asp2108=)
|
|
|
NM_001277115.2(DNAH11):c.632T>C (p.Leu211Pro)
|
|
|
NM_001277115.2(DNAH11):c.6334G>A (p.Val2112Met)
|
|
|
NM_001277115.2(DNAH11):c.6345C>A (p.Gly2115=)
|
|
|
NM_001277115.2(DNAH11):c.6345C>G (p.Gly2115=)
|
|
|
NM_001277115.2(DNAH11):c.634C>T (p.Leu212=)
|
|
|
NM_001277115.2(DNAH11):c.6354T>C (p.Gly2118=)
|
|
|
NM_001277115.2(DNAH11):c.6358C>T (p.Leu2120=)
|
|
|
NM_001277115.2(DNAH11):c.6360G>A (p.Leu2120=)
|
|
|
NM_001277115.2(DNAH11):c.6363T>C (p.Phe2121=)
|
rs1465584153
|
|
NM_001277115.2(DNAH11):c.6368C>G (p.Ala2123Gly)
|
|
|
NM_001277115.2(DNAH11):c.6369C>A (p.Ala2123=)
|
|
|
NM_001277115.2(DNAH11):c.6388A>C (p.Arg2130=)
|
|
|
NM_001277115.2(DNAH11):c.6394C>G (p.Leu2132Val)
|
|
|
NM_001277115.2(DNAH11):c.639A>G (p.Pro213=)
|
rs549859107
|
|
NM_001277115.2(DNAH11):c.63A>C (p.Leu21=)
|
|
|
NM_001277115.2(DNAH11):c.6409A>G (p.Met2137Val)
|
|
|
NM_001277115.2(DNAH11):c.6410T>C (p.Met2137Thr)
|
|
|
NM_001277115.2(DNAH11):c.6414C>T (p.Val2138=)
|
|
|
NM_001277115.2(DNAH11):c.6425C>T (p.Thr2142Ile)
|
|
|
NM_001277115.2(DNAH11):c.6430G>C (p.Glu2144Gln)
|
|
|
NM_001277115.2(DNAH11):c.6435C>T (p.Leu2145=)
|
|
|
NM_001277115.2(DNAH11):c.6437G>A (p.Arg2146His)
|
rs727505321
|
|
NM_001277115.2(DNAH11):c.6446C>T (p.Pro2149Leu)
|
|
|
NM_001277115.2(DNAH11):c.6465C>A (p.Leu2155=)
|
|
|
NM_001277115.2(DNAH11):c.6468+10G>A
|
|
|
NM_001277115.2(DNAH11):c.6468+12A>G
|
|
|
NM_001277115.2(DNAH11):c.6468+16G>T
|
|
|
NM_001277115.2(DNAH11):c.6468+8G>A
|
|
|
NM_001277115.2(DNAH11):c.6468+8G>C
|
|
|
NM_001277115.2(DNAH11):c.6468+8_6468+10del
|
|
|
NM_001277115.2(DNAH11):c.6468+9A>G
|
|
|
NM_001277115.2(DNAH11):c.6469-16G>A
|
|
|
NM_001277115.2(DNAH11):c.6469-4G>A
|
|
|
NM_001277115.2(DNAH11):c.6486A>G (p.Glu2162=)
|
rs2128479534
|
|
NM_001277115.2(DNAH11):c.6489G>A (p.Leu2163=)
|
|
|
NM_001277115.2(DNAH11):c.6490T>C (p.Leu2164=)
|
|
|
NM_001277115.2(DNAH11):c.6499C>T (p.Arg2167Trp)
|
|
|
NM_001277115.2(DNAH11):c.649G>A (p.Val217Ile)
|
|
|
NM_001277115.2(DNAH11):c.6507G>A (p.Ser2169=)
|
|
|
NM_001277115.2(DNAH11):c.6534A>C (p.Thr2178=)
|
|
|
NM_001277115.2(DNAH11):c.6534A>G (p.Thr2178=)
|
|
|
NM_001277115.2(DNAH11):c.6546+12T>C
|
|
|
NM_001277115.2(DNAH11):c.6546+13G>C
|
|
|
NM_001277115.2(DNAH11):c.6546+13G>T
|
|
|
NM_001277115.2(DNAH11):c.6546+18A>C
|
rs752908677
|
|
NM_001277115.2(DNAH11):c.6546+20A>G
|
|
|
NM_001277115.2(DNAH11):c.6547-12C>A
|
|
|
NM_001277115.2(DNAH11):c.6547-15C>A
|
|
|
NM_001277115.2(DNAH11):c.6547-16T>C
|
|
|
NM_001277115.2(DNAH11):c.6547-17T>G
|
|
|
NM_001277115.2(DNAH11):c.6547-6C>G
|
|
|
NM_001277115.2(DNAH11):c.6547-6C>T
|
rs866020416
|
|
NM_001277115.2(DNAH11):c.6547-8C>G
|
|
|
NM_001277115.2(DNAH11):c.6547-8C>T
|
|
|
NM_001277115.2(DNAH11):c.654A>G (p.Ala218=)
|
|
|
NM_001277115.2(DNAH11):c.6570A>G (p.Thr2190=)
|
|
|
NM_001277115.2(DNAH11):c.6573T>C (p.Tyr2191=)
|
|
|
NM_001277115.2(DNAH11):c.6577A>C (p.Asn2193His)
|
|
|
NM_001277115.2(DNAH11):c.6581T>G (p.Met2194Arg)
|
|
|
NM_001277115.2(DNAH11):c.6594G>A (p.Pro2198=)
|
rs200894470
|
|
NM_001277115.2(DNAH11):c.6594G>C (p.Pro2198=)
|
|
|
NM_001277115.2(DNAH11):c.6594G>T (p.Pro2198=)
|
|
|
NM_001277115.2(DNAH11):c.6603T>C (p.Asn2201=)
|
|
|
NM_001277115.2(DNAH11):c.6604G>A (p.Asp2202Asn)
|
|
|
NM_001277115.2(DNAH11):c.6611A>G (p.Asn2204Ser)
|
|
|
NM_001277115.2(DNAH11):c.6626C>A (p.Thr2209Lys)
|
|
|
NM_001277115.2(DNAH11):c.6630A>G (p.Thr2210=)
|
|
|
NM_001277115.2(DNAH11):c.6642T>C (p.Phe2214=)
|
|
|
NM_001277115.2(DNAH11):c.6652C>A (p.His2218Asn)
|
|
|
NM_001277115.2(DNAH11):c.6657T>G (p.His2219Gln)
|
|
|
NM_001277115.2(DNAH11):c.6669A>G (p.Glu2223=)
|
|
|
NM_001277115.2(DNAH11):c.6681C>T (p.Gly2227=)
|
|
|
NM_001277115.2(DNAH11):c.6683+10C>A
|
|
|
NM_001277115.2(DNAH11):c.6683+11C>A
|
|
|
NM_001277115.2(DNAH11):c.6683+17A>C
|
|
|
NM_001277115.2(DNAH11):c.6683+18G>C
|
|
|
NM_001277115.2(DNAH11):c.6683+8T>A
|
|
|
NM_001277115.2(DNAH11):c.6684-12A>T
|
|
|
NM_001277115.2(DNAH11):c.6684-13C>T
|
|
|
NM_001277115.2(DNAH11):c.6684-19C>G
|
|
|
NM_001277115.2(DNAH11):c.6684-5A>G
|
|
|
NM_001277115.2(DNAH11):c.6684-9A>G
|
|
|
NM_001277115.2(DNAH11):c.6687T>C (p.Ile2229=)
|
|
|
NM_001277115.2(DNAH11):c.6687T>G (p.Ile2229Met)
|
|
|
NM_001277115.2(DNAH11):c.6702T>C (p.Phe2234=)
|
|
|
NM_001277115.2(DNAH11):c.6719C>A (p.Ser2240Tyr)
|
|
|
NM_001277115.2(DNAH11):c.6728G>A (p.Arg2243Gln)
|
|
|
NM_001277115.2(DNAH11):c.6768A>T (p.Ile2256=)
|
|
|
NM_001277115.2(DNAH11):c.6771C>G (p.Val2257=)
|
|
|
NM_001277115.2(DNAH11):c.6774G>A (p.Leu2258=)
|
|
|
NM_001277115.2(DNAH11):c.6780C>G (p.Gly2260=)
|
|
|
NM_001277115.2(DNAH11):c.6780C>T (p.Gly2260=)
|
|
|
NM_001277115.2(DNAH11):c.6781G>A (p.Asp2261Asn)
|
|
|
NM_001277115.2(DNAH11):c.6781G>C (p.Asp2261His)
|
|
|
NM_001277115.2(DNAH11):c.6789C>T (p.Asp2263=)
|
|
|
NM_001277115.2(DNAH11):c.678T>C (p.Asn226=)
|
|
|
NM_001277115.2(DNAH11):c.6793A>T (p.Met2265Leu)
|
|
|
NM_001277115.2(DNAH11):c.6795G>A (p.Met2265Ile)
|
|
|
NM_001277115.2(DNAH11):c.6801T>A (p.Ile2267=)
|
|
|
NM_001277115.2(DNAH11):c.6801T>C (p.Ile2267=)
|
|
|
NM_001277115.2(DNAH11):c.6804A>G (p.Glu2268=)
|
|
|
NM_001277115.2(DNAH11):c.680G>C (p.Cys227Ser)
|
rs140085329
|
|
NM_001277115.2(DNAH11):c.6813T>C (p.Asn2271=)
|
|
|
NM_001277115.2(DNAH11):c.6834+10A>C
|
|
|
NM_001277115.2(DNAH11):c.6834+11C>T
|
|
|
NM_001277115.2(DNAH11):c.6834+12C>G
|
|
|
NM_001277115.2(DNAH11):c.6834+15del
|
|
|
NM_001277115.2(DNAH11):c.6834+16G>C
|
|
|
NM_001277115.2(DNAH11):c.6834+16G>T
|
|
|
NM_001277115.2(DNAH11):c.6834+19C>T
|
|
|
NM_001277115.2(DNAH11):c.6834+20T>C
|
|
|
NM_001277115.2(DNAH11):c.6834+7A>G
|
|
|
NM_001277115.2(DNAH11):c.6835-12T>G
|
|
|
NM_001277115.2(DNAH11):c.6835-13_6835-12insACCTGGA
|
|
|
NM_001277115.2(DNAH11):c.6835-15T>G
|
|
|
NM_001277115.2(DNAH11):c.6835-15del
|
|
|
NM_001277115.2(DNAH11):c.6835-17T>C
|
|
|
NM_001277115.2(DNAH11):c.6835-5T>A
|
|
|
NM_001277115.2(DNAH11):c.6835-7A>G
|
|
|
NM_001277115.2(DNAH11):c.6835-8C>T
|
|
|
NM_001277115.2(DNAH11):c.6843C>T (p.Thr2281=)
|
|
|
NM_001277115.2(DNAH11):c.6846C>T (p.Leu2282=)
|
|
|
NM_001277115.2(DNAH11):c.6849C>T (p.Ala2283=)
|
|
|
NM_001277115.2(DNAH11):c.6860G>A (p.Arg2287His)
|
|
|
NM_001277115.2(DNAH11):c.6868C>T (p.Leu2290Phe)
|
|
|
NM_001277115.2(DNAH11):c.6870C>T (p.Leu2290=)
|
|
|
NM_001277115.2(DNAH11):c.6872C>T (p.Thr2291Ile)
|
|
|
NM_001277115.2(DNAH11):c.6877T>G (p.Phe2293Val)
|
|
|
NM_001277115.2(DNAH11):c.6889C>T (p.Leu2297=)
|
rs886038471
|
|
NM_001277115.2(DNAH11):c.6898A>G (p.Ile2300Val)
|
rs767273694
|
|
NM_001277115.2(DNAH11):c.6903T>C (p.His2301=)
|
|
|
NM_001277115.2(DNAH11):c.6906C>T (p.His2302=)
|
|
|
NM_001277115.2(DNAH11):c.690C>T (p.Asn230=)
|
|
|
NM_001277115.2(DNAH11):c.6911G>A (p.Arg2304Lys)
|
|
|
NM_001277115.2(DNAH11):c.6912G>A (p.Arg2304=)
|
|
|
NM_001277115.2(DNAH11):c.692+13A>G
|
|
|
NM_001277115.2(DNAH11):c.692+14C>G
|
|
|
NM_001277115.2(DNAH11):c.692+15A>C
|
rs2128430914
|
|
NM_001277115.2(DNAH11):c.692+15A>G
|
|
|
NM_001277115.2(DNAH11):c.692+16A>G
|
|
|
NM_001277115.2(DNAH11):c.692+16A>T
|
|
|
NM_001277115.2(DNAH11):c.692+19T>C
|
|
|
NM_001277115.2(DNAH11):c.692+8A>T
|
|
|
NM_001277115.2(DNAH11):c.692+9C>G
|
|
|
NM_001277115.2(DNAH11):c.6924G>A (p.Pro2308=)
|
|
|
NM_001277115.2(DNAH11):c.693-14C>T
|
|
|
NM_001277115.2(DNAH11):c.693-15T>C
|
|
|
NM_001277115.2(DNAH11):c.693-15_693-11del
|
|
|
NM_001277115.2(DNAH11):c.693-16A>G
|
|
|
NM_001277115.2(DNAH11):c.693-17T>C
|
|
|
NM_001277115.2(DNAH11):c.693-20T>C
|
|
|
NM_001277115.2(DNAH11):c.693-5T>C
|
|
|
NM_001277115.2(DNAH11):c.6931G>C (p.Val2311Leu)
|
|
|
NM_001277115.2(DNAH11):c.6939A>G (p.Arg2313=)
|
|
|
NM_001277115.2(DNAH11):c.6941C>G (p.Ala2314Gly)
|
|
|
NM_001277115.2(DNAH11):c.6951G>C (p.Leu2317=)
|
|
|
NM_001277115.2(DNAH11):c.6957G>C (p.Val2319=)
|
|
|
NM_001277115.2(DNAH11):c.6960C>T (p.Asn2320=)
|
|
|
NM_001277115.2(DNAH11):c.6963A>G (p.Pro2321=)
|
|
|
NM_001277115.2(DNAH11):c.6975C>A (p.Gly2325=)
|
|
|
NM_001277115.2(DNAH11):c.6983+13_6983+16del
|
|
|
NM_001277115.2(DNAH11):c.6983+16T>G
|
|
|
NM_001277115.2(DNAH11):c.6983+17G>C
|
|
|
NM_001277115.2(DNAH11):c.6983+18T>G
|
|
|
NM_001277115.2(DNAH11):c.6983+8T>C
|
|
|
NM_001277115.2(DNAH11):c.6984-14G>A
|
|
|
NM_001277115.2(DNAH11):c.6984-18T>C
|
|
|
NM_001277115.2(DNAH11):c.6984-8C>G
|
rs774585659
|
|
NM_001277115.2(DNAH11):c.6984-8C>T
|
|
|
NM_001277115.2(DNAH11):c.6992C>G (p.Ala2331Gly)
|
|
|
NM_001277115.2(DNAH11):c.6993C>T (p.Ala2331=)
|
|
|
NM_001277115.2(DNAH11):c.7013G>A (p.Arg2338Gln)
|
|
|
NM_001277115.2(DNAH11):c.7014G>A (p.Arg2338=)
|
|
|
NM_001277115.2(DNAH11):c.7015C>T (p.His2339Tyr)
|
|
|
NM_001277115.2(DNAH11):c.7020A>G (p.Gln2340=)
|
|
|
NM_001277115.2(DNAH11):c.7036T>C (p.Leu2346=)
|
|
|
NM_001277115.2(DNAH11):c.7041T>G (p.Thr2347=)
|
|
|
NM_001277115.2(DNAH11):c.7053T>C (p.Asp2351=)
|
|
|
NM_001277115.2(DNAH11):c.7055A>T (p.Lys2352Ile)
|
|
|
NM_001277115.2(DNAH11):c.7056A>G (p.Lys2352=)
|
|
|
NM_001277115.2(DNAH11):c.7059T>C (p.Tyr2353=)
|
|
|
NM_001277115.2(DNAH11):c.7062C>T (p.Val2354=)
|
|
|
NM_001277115.2(DNAH11):c.7068A>G (p.Ala2356=)
|
|
|
NM_001277115.2(DNAH11):c.7104C>A (p.Ile2368=)
|
|
|
NM_001277115.2(DNAH11):c.7104C>T (p.Ile2368=)
|
|
|
NM_001277115.2(DNAH11):c.7112T>C (p.Ile2371Thr)
|
|
|
NM_001277115.2(DNAH11):c.7115C>G (p.Pro2372Arg)
|
|
|
NM_001277115.2(DNAH11):c.7116T>C (p.Pro2372=)
|
|
|
NM_001277115.2(DNAH11):c.7122T>C (p.Ser2374=)
|
|
|
NM_001277115.2(DNAH11):c.7126C>G (p.Leu2376Val)
|
|
|
NM_001277115.2(DNAH11):c.712A>G (p.Ile238Val)
|
|
|
NM_001277115.2(DNAH11):c.7131G>T (p.Val2377=)
|
|
|
NM_001277115.2(DNAH11):c.7134+11G>A
|
|
|
NM_001277115.2(DNAH11):c.7134+12G>A
|
|
|
NM_001277115.2(DNAH11):c.7134+15A>G
|
|
|
NM_001277115.2(DNAH11):c.7134+20A>G
|
|
|
NM_001277115.2(DNAH11):c.7135-11T>C
|
|
|
NM_001277115.2(DNAH11):c.7135-11T>G
|
|
|
NM_001277115.2(DNAH11):c.7135-13del
|
|
|
NM_001277115.2(DNAH11):c.7135-14T>G
|
rs1784841830
|
|
NM_001277115.2(DNAH11):c.7135-16A>G
|
|
|
NM_001277115.2(DNAH11):c.7135-17T>G
|
|
|
NM_001277115.2(DNAH11):c.7135-6C>A
|
|
|
NM_001277115.2(DNAH11):c.7135-7T>C
|
|
|
NM_001277115.2(DNAH11):c.7137T>G (p.Thr2379=)
|
|
|
NM_001277115.2(DNAH11):c.7143T>C (p.Cys2381=)
|
|
|
NM_001277115.2(DNAH11):c.7146T>C (p.Val2382=)
|
|
|
NM_001277115.2(DNAH11):c.7149T>G (p.Leu2383=)
|
|
|
NM_001277115.2(DNAH11):c.715A>G (p.Ile239Val)
|
|
|
NM_001277115.2(DNAH11):c.7164G>A (p.Leu2388=)
|
|
|
NM_001277115.2(DNAH11):c.7169C>T (p.Pro2390Leu)
|
rs1395315449
|
|
NM_001277115.2(DNAH11):c.7179A>C (p.Val2393=)
|
|
|
NM_001277115.2(DNAH11):c.7186G>A (p.Asp2396Asn)
|
|
|
NM_001277115.2(DNAH11):c.7191C>T (p.Ser2397=)
|
|
|
NM_001277115.2(DNAH11):c.7200A>G (p.Glu2400=)
|
|
|
NM_001277115.2(DNAH11):c.7206T>C (p.Tyr2402=)
|
|
|
NM_001277115.2(DNAH11):c.7212C>T (p.Val2404=)
|
rs777174573
|
|
NM_001277115.2(DNAH11):c.7221A>T (p.Val2407=)
|
|
|
NM_001277115.2(DNAH11):c.7232T>G (p.Ile2411Ser)
|
|
|
NM_001277115.2(DNAH11):c.7240T>C (p.Phe2414Leu)
|
|
|
NM_001277115.2(DNAH11):c.7245A>G (p.Gly2415=)
|
|
|
NM_001277115.2(DNAH11):c.7254G>A (p.Leu2418=)
|
|
|
NM_001277115.2(DNAH11):c.7257A>G (p.Leu2419=)
|
rs1311166038
|
|
NM_001277115.2(DNAH11):c.7258C>A (p.Gln2420Lys)
|
|
|
NM_001277115.2(DNAH11):c.7266+14T>C
|
|
|
NM_001277115.2(DNAH11):c.7266+18_7266+19del
|
|
|
NM_001277115.2(DNAH11):c.7266+19T>A
|
|
|
NM_001277115.2(DNAH11):c.7266+19T>C
|
|
|
NM_001277115.2(DNAH11):c.7267-16C>A
|
|
|
NM_001277115.2(DNAH11):c.7267-16del
|
|
|
NM_001277115.2(DNAH11):c.7267-20A>G
|
|
|
NM_001277115.2(DNAH11):c.7267-5C>T
|
|
|
NM_001277115.2(DNAH11):c.7267-6C>T
|
|
|
NM_001277115.2(DNAH11):c.7269T>A (p.Ile2423=)
|
|
|
NM_001277115.2(DNAH11):c.7275T>C (p.Asp2425=)
|
|
|
NM_001277115.2(DNAH11):c.727A>T (p.Ile243Phe)
|
rs189000268
|
|
NM_001277115.2(DNAH11):c.7290C>G (p.Phe2430Leu)
|
rs12536928
|
|
NM_001277115.2(DNAH11):c.729T>A (p.Ile243=)
|
|
|
NM_001277115.2(DNAH11):c.7308A>G (p.Lys2436=)
|
rs1459663021
|
|
NM_001277115.2(DNAH11):c.7309G>C (p.Glu2437Gln)
|
|
|
NM_001277115.2(DNAH11):c.7319C>T (p.Ala2440Val)
|
|
|
NM_001277115.2(DNAH11):c.7320A>G (p.Ala2440=)
|
|
|
NM_001277115.2(DNAH11):c.7323G>A (p.Val2441=)
|
|
|
NM_001277115.2(DNAH11):c.732A>G (p.Glu244=)
|
|
|
NM_001277115.2(DNAH11):c.7335G>T (p.Ser2445=)
|
rs11768670
|
|
NM_001277115.2(DNAH11):c.7340G>C (p.Gly2447Ala)
|
|
|
NM_001277115.2(DNAH11):c.7351G>A (p.Asp2451Asn)
|
|
|
NM_001277115.2(DNAH11):c.73G>C (p.Ala25Pro)
|
|
|
NM_001277115.2(DNAH11):c.7400A>G (p.Lys2467Arg)
|
|
|
NM_001277115.2(DNAH11):c.7408C>G (p.Gln2470Glu)
|
|
|
NM_001277115.2(DNAH11):c.7410G>A (p.Gln2470=)
|
|
|
NM_001277115.2(DNAH11):c.7435C>T (p.Leu2479=)
|
|
|
NM_001277115.2(DNAH11):c.7437G>T (p.Leu2479=)
|
|
|
NM_001277115.2(DNAH11):c.7440+14A>C
|
|
|
NM_001277115.2(DNAH11):c.7440+17T>C
|
|
|
NM_001277115.2(DNAH11):c.7440+7G>T
|
rs573260062
|
|
NM_001277115.2(DNAH11):c.7440+8dup
|
|
|
NM_001277115.2(DNAH11):c.7440+9G>A
|
|
|
NM_001277115.2(DNAH11):c.7441-19A>T
|
|
|
NM_001277115.2(DNAH11):c.7441-20C>T
|
|
|
NM_001277115.2(DNAH11):c.7441-6T>A
|
|
|
NM_001277115.2(DNAH11):c.7443A>G (p.Thr2481=)
|
|
|
NM_001277115.2(DNAH11):c.7447C>T (p.Leu2483Phe)
|
|
|
NM_001277115.2(DNAH11):c.7449C>G (p.Leu2483=)
|
|
|
NM_001277115.2(DNAH11):c.7458A>T (p.Thr2486=)
|
|
|
NM_001277115.2(DNAH11):c.7469C>T (p.Ala2490Val)
|
|
|
NM_001277115.2(DNAH11):c.7472G>C (p.Arg2491Pro)
|
rs369438218
|
|
NM_001277115.2(DNAH11):c.7474C>A (p.Leu2492Ile)
|
|
|
NM_001277115.2(DNAH11):c.7485C>T (p.Phe2495=)
|
rs771739801
|
|
NM_001277115.2(DNAH11):c.7492T>C (p.Leu2498=)
|
|
|
NM_001277115.2(DNAH11):c.7515T>C (p.Pro2505=)
|
|
|
NM_001277115.2(DNAH11):c.7518A>G (p.Leu2506=)
|
|
|
NM_001277115.2(DNAH11):c.7525G>A (p.Val2509Ile)
|
rs1259559217
|
|
NM_001277115.2(DNAH11):c.7526T>C (p.Val2509Ala)
|
|
|
NM_001277115.2(DNAH11):c.7536A>T (p.Ala2512=)
|
|
|
NM_001277115.2(DNAH11):c.7560A>C (p.Val2520=)
|
|
|
NM_001277115.2(DNAH11):c.7560A>T (p.Val2520=)
|
|
|
NM_001277115.2(DNAH11):c.7562G>C (p.Gly2521Ala)
|
|
|
NM_001277115.2(DNAH11):c.7563T>G (p.Gly2521=)
|
|
|
NM_001277115.2(DNAH11):c.7569A>G (p.Thr2523=)
|
|
|
NM_001277115.2(DNAH11):c.7581C>G (p.Leu2527=)
|
|
|
NM_001277115.2(DNAH11):c.7581C>T (p.Leu2527=)
|
|
|
NM_001277115.2(DNAH11):c.7585G>C (p.Glu2529Gln)
|
|
|
NM_001277115.2(DNAH11):c.7589A>G (p.Asp2530Gly)
|
|
|
NM_001277115.2(DNAH11):c.7620C>T (p.Tyr2540=)
|
|
|
NM_001277115.2(DNAH11):c.7636G>A (p.Ala2546Thr)
|
|
|
NM_001277115.2(DNAH11):c.7645+10C>T
|
|
|
NM_001277115.2(DNAH11):c.7645+12del
|
|
|
NM_001277115.2(DNAH11):c.7645+8C>A
|
|
|
NM_001277115.2(DNAH11):c.7645+9A>C
|
|
|
NM_001277115.2(DNAH11):c.7646-11G>A
|
|
|
NM_001277115.2(DNAH11):c.7646-11G>T
|
|
|
NM_001277115.2(DNAH11):c.7646-14T>C
|
|
|
NM_001277115.2(DNAH11):c.7646-15A>G
|
|
|
NM_001277115.2(DNAH11):c.7646-17AT[2]
|
|
|
NM_001277115.2(DNAH11):c.7646-20G>A
|
|
|
NM_001277115.2(DNAH11):c.7646-20G>C
|
|
|
NM_001277115.2(DNAH11):c.7646-7A>C
|
|
|
NM_001277115.2(DNAH11):c.7646-7A>T
|
|
|
NM_001277115.2(DNAH11):c.7653T>A (p.Leu2551=)
|
rs541595891
|
|
NM_001277115.2(DNAH11):c.7653T>C (p.Leu2551=)
|
|
|
NM_001277115.2(DNAH11):c.7659A>G (p.Lys2553=)
|
|
|
NM_001277115.2(DNAH11):c.765A>G (p.Gln255=)
|
|
|
NM_001277115.2(DNAH11):c.7660C>A (p.Pro2554Thr)
|
|
|
NM_001277115.2(DNAH11):c.7665A>G (p.Leu2555=)
|
|
|
NM_001277115.2(DNAH11):c.7679G>C (p.Gly2560Ala)
|
|
|
NM_001277115.2(DNAH11):c.7680T>C (p.Gly2560=)
|
|
|
NM_001277115.2(DNAH11):c.7688A>G (p.Tyr2563Cys)
|
|
|
NM_001277115.2(DNAH11):c.7696G>A (p.Gly2566Arg)
|
|
|
NM_001277115.2(DNAH11):c.7697G>A (p.Gly2566Glu)
|
|
|
NM_001277115.2(DNAH11):c.7699G>C (p.Gly2567Arg)
|
|
|
NM_001277115.2(DNAH11):c.769A>G (p.Ile257Val)
|
|
|
NM_001277115.2(DNAH11):c.7704T>C (p.Asn2568=)
|
|
|
NM_001277115.2(DNAH11):c.7731C>T (p.Asp2577=)
|
|
|
NM_001277115.2(DNAH11):c.7748T>G (p.Val2583Gly)
|
|
|
NM_001277115.2(DNAH11):c.7749G>C (p.Val2583=)
|
|
|
NM_001277115.2(DNAH11):c.774A>G (p.Ile258Met)
|
|
|
NM_001277115.2(DNAH11):c.7758T>C (p.Tyr2586=)
|
|
|
NM_001277115.2(DNAH11):c.7761C>A (p.Gly2587=)
|
|
|
NM_001277115.2(DNAH11):c.7764C>T (p.Thr2588=)
|
|
|
NM_001277115.2(DNAH11):c.7788G>A (p.Arg2596=)
|
|
|
NM_001277115.2(DNAH11):c.7797T>A (p.Ile2599=)
|
|
|
NM_001277115.2(DNAH11):c.7811+11C>T
|
|
|
NM_001277115.2(DNAH11):c.7811+12T>A
|
|
|
NM_001277115.2(DNAH11):c.7811+13C>G
|
|
|
NM_001277115.2(DNAH11):c.7811+15G>T
|
|
|
NM_001277115.2(DNAH11):c.7811+17A>G
|
|
|
NM_001277115.2(DNAH11):c.7811+18del
|
|
|
NM_001277115.2(DNAH11):c.7811+7A>T
|
rs1785740654
|
|
NM_001277115.2(DNAH11):c.7811+9G>A
|
|
|
NM_001277115.2(DNAH11):c.7811+9G>C
|
|
|
NM_001277115.2(DNAH11):c.7812-11_7812-10del
|
|
|
NM_001277115.2(DNAH11):c.7812-12T>C
|
|
|
NM_001277115.2(DNAH11):c.7812-19T>C
|
|
|
NM_001277115.2(DNAH11):c.7812-6T>C
|
|
|
NM_001277115.2(DNAH11):c.7812-7C>G
|
|
|
NM_001277115.2(DNAH11):c.7812-9G>T
|
|
|
NM_001277115.2(DNAH11):c.7818T>C (p.Asp2606=)
|
rs1049247750
|
|
NM_001277115.2(DNAH11):c.7820G>A (p.Arg2607Lys)
|
|
|
NM_001277115.2(DNAH11):c.7836T>G (p.Leu2612=)
|
|
|
NM_001277115.2(DNAH11):c.7840G>C (p.Glu2614Gln)
|
|
|
NM_001277115.2(DNAH11):c.7845C>A (p.Ile2615=)
|
|
|
NM_001277115.2(DNAH11):c.784T>C (p.Ser262Pro)
|
|
|
NM_001277115.2(DNAH11):c.7850A>G (p.Asn2617Ser)
|
|
|
NM_001277115.2(DNAH11):c.7854C>T (p.Cys2618=)
|
|
|
NM_001277115.2(DNAH11):c.7866C>T (p.Ala2622=)
|
|
|
NM_001277115.2(DNAH11):c.7877C>T (p.Pro2626Leu)
|
|
|
NM_001277115.2(DNAH11):c.7878G>A (p.Pro2626=)
|
|
|
NM_001277115.2(DNAH11):c.7887C>T (p.Gly2629=)
|
|
|
NM_001277115.2(DNAH11):c.789G>T (p.Val263=)
|
|
|
NM_001277115.2(DNAH11):c.78C>G (p.Gly26=)
|
|
|
NM_001277115.2(DNAH11):c.7906A>C (p.Arg2636=)
|
|
|
NM_001277115.2(DNAH11):c.790C>A (p.Gln264Lys)
|
|
|
NM_001277115.2(DNAH11):c.7914+11G>C
|
|
|
NM_001277115.2(DNAH11):c.7914+13A>C
|
|
|
NM_001277115.2(DNAH11):c.7914+18G>C
|
|
|
NM_001277115.2(DNAH11):c.7914+18_7914+20del
|
rs751334482
|
|
NM_001277115.2(DNAH11):c.7914+19C>T
|
|
|
NM_001277115.2(DNAH11):c.7914+8G>A
|
|
|
NM_001277115.2(DNAH11):c.7915-13C>A
|
|
|
NM_001277115.2(DNAH11):c.7915-16T>G
|
|
|
NM_001277115.2(DNAH11):c.7915-17T>C
|
|
|
NM_001277115.2(DNAH11):c.7915-19T>A
|
|
|
NM_001277115.2(DNAH11):c.7915-19T>C
|
|
|
NM_001277115.2(DNAH11):c.7915-8C>A
|
|
|
NM_001277115.2(DNAH11):c.7920T>G (p.His2640Gln)
|
|
|
NM_001277115.2(DNAH11):c.7922T>C (p.Phe2641Ser)
|
|
|
NM_001277115.2(DNAH11):c.7928T>C (p.Val2643Ala)
|
|
|
NM_001277115.2(DNAH11):c.7954G>A (p.Asp2652Asn)
|
|
|
NM_001277115.2(DNAH11):c.7962A>G (p.Leu2654=)
|
rs747907976
|
|
NM_001277115.2(DNAH11):c.7998C>T (p.Phe2666=)
|
|
|
NM_001277115.2(DNAH11):c.799T>C (p.Leu267=)
|
|
|
NM_001277115.2(DNAH11):c.8008G>T (p.Ala2670Ser)
|
rs1393179441
|
|
NM_001277115.2(DNAH11):c.8019A>G (p.Pro2673=)
|
|
|
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=)
|
|
|
NM_001277115.2(DNAH11):c.8036G>C (p.Gly2679Ala)
|
|
|
NM_001277115.2(DNAH11):c.8045T>G (p.Leu2682Trp)
|
|
|
NM_001277115.2(DNAH11):c.8050C>G (p.Gln2684Glu)
|
|
|
NM_001277115.2(DNAH11):c.8055A>C (p.Ala2685=)
|
|
|
NM_001277115.2(DNAH11):c.8076A>G (p.Thr2692=)
|
|
|
NM_001277115.2(DNAH11):c.8077A>G (p.Met2693Val)
|
|
|
NM_001277115.2(DNAH11):c.8082G>A (p.Met2694Ile)
|
|
|
NM_001277115.2(DNAH11):c.808C>T (p.Leu270Phe)
|
|
|
NM_001277115.2(DNAH11):c.8100G>T (p.Thr2700=)
|
rs72657365
|
|
NM_001277115.2(DNAH11):c.8115C>T (p.His2705=)
|
|
|
NM_001277115.2(DNAH11):c.8118C>T (p.Tyr2706=)
|
|
|
NM_001277115.2(DNAH11):c.812A>G (p.His271Arg)
|
|
|
NM_001277115.2(DNAH11):c.8143A>T (p.Asn2715Tyr)
|
|
|
NM_001277115.2(DNAH11):c.8147T>C (p.Val2716Ala)
|
|
|
NM_001277115.2(DNAH11):c.8154+10C>G
|
|
|
NM_001277115.2(DNAH11):c.8154+12G>C
|
|
|
NM_001277115.2(DNAH11):c.8154+13C>T
|
|
|
NM_001277115.2(DNAH11):c.8154+15C>T
|
|
|
NM_001277115.2(DNAH11):c.8154+17A>G
|
|
|
NM_001277115.2(DNAH11):c.8154+18T>C
|
|
|
NM_001277115.2(DNAH11):c.8154+19G>T
|
|
|
NM_001277115.2(DNAH11):c.8154+8G>C
|
|
|
NM_001277115.2(DNAH11):c.8154+9A>G
|
|
|
NM_001277115.2(DNAH11):c.8155-15A>G
|
|
|
NM_001277115.2(DNAH11):c.8155-16C>T
|
|
|
NM_001277115.2(DNAH11):c.8155-18C>T
|
|
|
NM_001277115.2(DNAH11):c.8155-4G>A
|
|
|
NM_001277115.2(DNAH11):c.8155-5T>C
|
|
|
NM_001277115.2(DNAH11):c.8155-9G>A
|
rs539005820
|
|
NM_001277115.2(DNAH11):c.8174C>A (p.Pro2725His)
|
|
|
NM_001277115.2(DNAH11):c.8178G>A (p.Glu2726=)
|
|
|
NM_001277115.2(DNAH11):c.8184A>G (p.Leu2728=)
|
|
|
NM_001277115.2(DNAH11):c.8193A>C (p.Pro2731=)
|
|
|
NM_001277115.2(DNAH11):c.8207A>G (p.His2736Arg)
|
rs956981336
|
|
NM_001277115.2(DNAH11):c.820C>T (p.Pro274Ser)
|
|
|
NM_001277115.2(DNAH11):c.8211G>C (p.Leu2737=)
|
|
|
NM_001277115.2(DNAH11):c.8227G>A (p.Ala2743Thr)
|
|
|
NM_001277115.2(DNAH11):c.8229C>T (p.Ala2743=)
|
|
|
NM_001277115.2(DNAH11):c.8231G>A (p.Arg2744His)
|
|
|
NM_001277115.2(DNAH11):c.8248C>T (p.Leu2750=)
|
|
|
NM_001277115.2(DNAH11):c.8286A>G (p.Arg2762=)
|
|
|
NM_001277115.2(DNAH11):c.8292G>T (p.Leu2764=)
|
|
|
NM_001277115.2(DNAH11):c.8316+10T>C
|
|
|
NM_001277115.2(DNAH11):c.8316+16T>C
|
|
|
NM_001277115.2(DNAH11):c.8316+17C>T
|
|
|
NM_001277115.2(DNAH11):c.8316+17del
|
|
|
NM_001277115.2(DNAH11):c.8316+6_8316+21del
|
|
|
NM_001277115.2(DNAH11):c.8317-10C>T
|
|
|
NM_001277115.2(DNAH11):c.8317-12C>T
|
|
|
NM_001277115.2(DNAH11):c.8317-14_8317-13del
|
|
|
NM_001277115.2(DNAH11):c.8317-16_8317-15del
|
|
|
NM_001277115.2(DNAH11):c.8317-18C>G
|
|
|
NM_001277115.2(DNAH11):c.8317-6C>T
|
|
|
NM_001277115.2(DNAH11):c.8317-8T>C
|
|
|
NM_001277115.2(DNAH11):c.8317-9A>G
|
|
|
NM_001277115.2(DNAH11):c.8319T>C (p.Gly2773=)
|
|
|
NM_001277115.2(DNAH11):c.8321T>C (p.Ile2774Thr)
|
|
|
NM_001277115.2(DNAH11):c.8343A>C (p.Gln2781His)
|
|
|
NM_001277115.2(DNAH11):c.8346G>A (p.Gln2782=)
|
|
|
NM_001277115.2(DNAH11):c.8349C>T (p.Pro2783=)
|
rs1330210517
|
|
NM_001277115.2(DNAH11):c.8367T>A (p.Phe2789Leu)
|
|
|
NM_001277115.2(DNAH11):c.8374A>G (p.Arg2792Gly)
|
|
|
NM_001277115.2(DNAH11):c.8394C>T (p.Tyr2798=)
|
|
|
NM_001277115.2(DNAH11):c.8395A>G (p.Met2799Val)
|
|
|
NM_001277115.2(DNAH11):c.8399C>T (p.Pro2800Leu)
|
|
|
NM_001277115.2(DNAH11):c.8409C>T (p.Asp2803=)
|
rs868804543
|
|
NM_001277115.2(DNAH11):c.8421G>C (p.Leu2807=)
|
|
|
NM_001277115.2(DNAH11):c.8424G>A (p.Lys2808=)
|
|
|
NM_001277115.2(DNAH11):c.8427G>C (p.Thr2809=)
|
|
|
NM_001277115.2(DNAH11):c.8427G>T (p.Thr2809=)
|
|
|
NM_001277115.2(DNAH11):c.8448C>T (p.Asp2816=)
|
|
|
NM_001277115.2(DNAH11):c.8450A>C (p.Asn2817Thr)
|
|
|
NM_001277115.2(DNAH11):c.8459A>G (p.Glu2820Gly)
|
|
|
NM_001277115.2(DNAH11):c.8469T>A (p.Ala2823=)
|
|
|
NM_001277115.2(DNAH11):c.846G>A (p.Met282Ile)
|
|
|
NM_001277115.2(DNAH11):c.8473A>G (p.Met2825Val)
|
|
|
NM_001277115.2(DNAH11):c.8486T>G (p.Leu2829Trp)
|
|
|
NM_001277115.2(DNAH11):c.849G>A (p.Met283Ile)
|
|
|
NM_001277115.2(DNAH11):c.84G>A (p.Glu28=)
|
|
|
NM_001277115.2(DNAH11):c.850A>C (p.Arg284=)
|
|
|
NM_001277115.2(DNAH11):c.8510+10C>T
|
|
|
NM_001277115.2(DNAH11):c.8510+13G>A
|
|
|
NM_001277115.2(DNAH11):c.8510+14T>A
|
|
|
NM_001277115.2(DNAH11):c.8510+17C>G
|
rs374586159
|
|
NM_001277115.2(DNAH11):c.8510+17C>T
|
|
|
NM_001277115.2(DNAH11):c.8510+18G>A
|
rs756000648
|
|
NM_001277115.2(DNAH11):c.8510+18G>T
|
|
|
NM_001277115.2(DNAH11):c.8511-14del
|
|
|
NM_001277115.2(DNAH11):c.8511-15G>A
|
rs111471486
|
|
NM_001277115.2(DNAH11):c.8511-15G>T
|
|
|
NM_001277115.2(DNAH11):c.8511-17G>T
|
|
|
NM_001277115.2(DNAH11):c.8511-18G>T
|
|
|
NM_001277115.2(DNAH11):c.8511-5C>T
|
|
|
NM_001277115.2(DNAH11):c.8511-8T>C
|
|
|
NM_001277115.2(DNAH11):c.8517C>T (p.Arg2839=)
|
|
|
NM_001277115.2(DNAH11):c.851G>T (p.Arg284Met)
|
|
|
NM_001277115.2(DNAH11):c.852G>A (p.Arg284=)
|
|
|
NM_001277115.2(DNAH11):c.852G>T (p.Arg284Ser)
|
|
|
NM_001277115.2(DNAH11):c.8533C>A (p.Arg2845=)
|
rs121908854
|
|
NM_001277115.2(DNAH11):c.8539C>T (p.Pro2847Ser)
|
|
|
NM_001277115.2(DNAH11):c.8553T>G (p.Ala2851=)
|
rs2128492596
|
|
NM_001277115.2(DNAH11):c.8559G>A (p.Leu2853=)
|
|
|
NM_001277115.2(DNAH11):c.8598G>A (p.Arg2866=)
|
|
|
NM_001277115.2(DNAH11):c.8610C>T (p.Tyr2870=)
|
|
|
NM_001277115.2(DNAH11):c.8614C>T (p.Arg2872Cys)
|
|
|
NM_001277115.2(DNAH11):c.8619C>T (p.Gly2873=)
|
|
|
NM_001277115.2(DNAH11):c.8640T>C (p.Thr2880=)
|
|
|
NM_001277115.2(DNAH11):c.8643G>C (p.Leu2881=)
|
|
|
NM_001277115.2(DNAH11):c.8646C>A (p.Thr2882=)
|
|
|
NM_001277115.2(DNAH11):c.8646C>T (p.Thr2882=)
|
|
|
NM_001277115.2(DNAH11):c.864G>A (p.Leu288=)
|
rs878854447
|
|
NM_001277115.2(DNAH11):c.8652C>T (p.Gly2884=)
|
|
|
NM_001277115.2(DNAH11):c.8654A>T (p.Tyr2885Phe)
|
|
|
NM_001277115.2(DNAH11):c.8658A>C (p.Gly2886=)
|
|
|
NM_001277115.2(DNAH11):c.8673+16A>G
|
|
|
NM_001277115.2(DNAH11):c.8673+18G>A
|
|
|
NM_001277115.2(DNAH11):c.8673+7C>G
|
|
|
NM_001277115.2(DNAH11):c.8673+9A>G
|
|
|
NM_001277115.2(DNAH11):c.8674-10T>C
|
|
|
NM_001277115.2(DNAH11):c.8674-12C>G
|
|
|
NM_001277115.2(DNAH11):c.8674-12C>T
|
|
|
NM_001277115.2(DNAH11):c.8674-13C>A
|
|
|
NM_001277115.2(DNAH11):c.8674-17A>G
|
|
|
NM_001277115.2(DNAH11):c.8674-20G>A
|
|
|
NM_001277115.2(DNAH11):c.8674-20G>C
|
|
|
NM_001277115.2(DNAH11):c.8674-6T>C
|
|
|
NM_001277115.2(DNAH11):c.8674-8C>A
|
|
|
NM_001277115.2(DNAH11):c.8680C>A (p.Leu2894Ile)
|
|
|
NM_001277115.2(DNAH11):c.8684C>T (p.Ala2895Val)
|
rs530087550
|
|
NM_001277115.2(DNAH11):c.8687A>G (p.Asn2896Ser)
|
|
|
NM_001277115.2(DNAH11):c.8689T>C (p.Leu2897=)
|
rs1583656714
|
|
NM_001277115.2(DNAH11):c.8706A>G (p.Gly2902=)
|
|
|
NM_001277115.2(DNAH11):c.870C>T (p.Cys290=)
|
|
|
NM_001277115.2(DNAH11):c.8715C>T (p.Asn2905=)
|
|
|
NM_001277115.2(DNAH11):c.8716A>G (p.Met2906Val)
|
|
|
NM_001277115.2(DNAH11):c.8730C>T (p.Phe2910=)
|
|
|
NM_001277115.2(DNAH11):c.8736G>C (p.Leu2912=)
|
|
|
NM_001277115.2(DNAH11):c.8739A>T (p.Thr2913=)
|
|
|
NM_001277115.2(DNAH11):c.8751T>A (p.Val2917=)
|
rs1786323159
|
|
NM_001277115.2(DNAH11):c.8752C>G (p.Leu2918Val)
|
|
|
NM_001277115.2(DNAH11):c.876T>C (p.Tyr292=)
|
rs2128431283
|
|
NM_001277115.2(DNAH11):c.8778T>C (p.Ile2926=)
|
|
|
NM_001277115.2(DNAH11):c.8797+12A>C
|
rs372924996
|
|
NM_001277115.2(DNAH11):c.8797+12A>G
|
rs372924996
|
|
NM_001277115.2(DNAH11):c.8797+14C>T
|
|
|
NM_001277115.2(DNAH11):c.8797+16C>T
|
|
|
NM_001277115.2(DNAH11):c.8797+17A>G
|
|
|
NM_001277115.2(DNAH11):c.8797+19T>G
|
|
|
NM_001277115.2(DNAH11):c.8798-11C>A
|
|
|
NM_001277115.2(DNAH11):c.8798-13T>C
|
|
|
NM_001277115.2(DNAH11):c.8798-14A>G
|
|
|
NM_001277115.2(DNAH11):c.8798-15C>T
|
|
|
NM_001277115.2(DNAH11):c.8798-17C>T
|
|
|
NM_001277115.2(DNAH11):c.8798-18A>G
|
|
|
NM_001277115.2(DNAH11):c.8805C>A (p.Ile2935=)
|
|
|
NM_001277115.2(DNAH11):c.8808A>C (p.Pro2936=)
|
|
|
NM_001277115.2(DNAH11):c.8809G>A (p.Asp2937Asn)
|
rs538735006
|
|
NM_001277115.2(DNAH11):c.8814G>C (p.Leu2938=)
|
|
|
NM_001277115.2(DNAH11):c.882+14C>T
|
|
|
NM_001277115.2(DNAH11):c.882+9A>C
|
|
|
NM_001277115.2(DNAH11):c.8820C>T (p.Ser2940=)
|
|
|
NM_001277115.2(DNAH11):c.8821G>A (p.Asp2941Asn)
|
rs776368544
|
|
NM_001277115.2(DNAH11):c.8827G>C (p.Asp2943His)
|
|
|
NM_001277115.2(DNAH11):c.883-11C>A
|
|
|
NM_001277115.2(DNAH11):c.883-11C>T
|
|
|
NM_001277115.2(DNAH11):c.883-13T>A
|
|
|
NM_001277115.2(DNAH11):c.883-19T>C
|
|
|
NM_001277115.2(DNAH11):c.883-4T>C
|
|
|
NM_001277115.2(DNAH11):c.883-4T>G
|
|
|
NM_001277115.2(DNAH11):c.8840T>C (p.Ile2947Thr)
|
|
|
NM_001277115.2(DNAH11):c.8842A>G (p.Ile2948Val)
|
|
|
NM_001277115.2(DNAH11):c.8886C>T (p.Asp2962=)
|
|
|
NM_001277115.2(DNAH11):c.8889C>T (p.Ser2963=)
|
|
|
NM_001277115.2(DNAH11):c.8895A>G (p.Glu2965=)
|
|
|
NM_001277115.2(DNAH11):c.8898C>T (p.Asn2966=)
|
|
|
NM_001277115.2(DNAH11):c.891A>T (p.Ala297=)
|
|
|
NM_001277115.2(DNAH11):c.8920A>C (p.Arg2974=)
|
|
|
NM_001277115.2(DNAH11):c.8925G>T (p.Val2975=)
|
|
|
NM_001277115.2(DNAH11):c.8928A>T (p.Arg2976=)
|
|
|
NM_001277115.2(DNAH11):c.8931A>G (p.Leu2977=)
|
|
|
NM_001277115.2(DNAH11):c.8940+15C>T
|
|
|
NM_001277115.2(DNAH11):c.8940+20T>C
|
|
|
NM_001277115.2(DNAH11):c.8940+9T>G
|
|
|
NM_001277115.2(DNAH11):c.8941-13C>T
|
|
|
NM_001277115.2(DNAH11):c.8941-14C>T
|
|
|
NM_001277115.2(DNAH11):c.8941-8C>T
|
|
|
NM_001277115.2(DNAH11):c.8958T>G (p.Ser2986=)
|
|
|
NM_001277115.2(DNAH11):c.8C>A (p.Ala3Asp)
|
|
|
NM_001277115.2(DNAH11):c.8C>T (p.Ala3Val)
|
|
|
NM_001277115.2(DNAH11):c.9003C>T (p.Ala3001=)
|
|
|
NM_001277115.2(DNAH11):c.9013T>A (p.Cys3005Ser)
|
rs369196786
|
|
NM_001277115.2(DNAH11):c.9019G>A (p.Ala3007Thr)
|
|
|
NM_001277115.2(DNAH11):c.9021T>C (p.Ala3007=)
|
|
|
NM_001277115.2(DNAH11):c.9023T>C (p.Ile3008Thr)
|
|
|
NM_001277115.2(DNAH11):c.9044C>T (p.Pro3015Leu)
|
rs749849152
|
|
NM_001277115.2(DNAH11):c.9045G>A (p.Pro3015=)
|
|
|
NM_001277115.2(DNAH11):c.9053C>T (p.Ala3018Val)
|
|
|
NM_001277115.2(DNAH11):c.9054T>C (p.Ala3018=)
|
|
|
NM_001277115.2(DNAH11):c.9055C>G (p.Leu3019Val)
|
|
|
NM_001277115.2(DNAH11):c.905A>C (p.Lys302Thr)
|
|
|
NM_001277115.2(DNAH11):c.9060C>G (p.Val3020=)
|
|
|
NM_001277115.2(DNAH11):c.9078C>T (p.Phe3026=)
|
|
|
NM_001277115.2(DNAH11):c.9088A>G (p.Thr3030Ala)
|
|
|
NM_001277115.2(DNAH11):c.9102+13A>T
|
|
|
NM_001277115.2(DNAH11):c.9102+14G>T
|
|
|
NM_001277115.2(DNAH11):c.9102+15C>T
|
|
|
NM_001277115.2(DNAH11):c.9102+19C>A
|
|
|
NM_001277115.2(DNAH11):c.9102+19C>T
|
|
|
NM_001277115.2(DNAH11):c.9102+20G>T
|
|
|
NM_001277115.2(DNAH11):c.9102+8G>T
|
|
|
NM_001277115.2(DNAH11):c.9103-10G>A
|
|
|
NM_001277115.2(DNAH11):c.9103-13T>C
|
|
|
NM_001277115.2(DNAH11):c.9103-6T>C
|
|
|
NM_001277115.2(DNAH11):c.9103-8_9103-7del
|
|
|
NM_001277115.2(DNAH11):c.9121A>T (p.Ile3041Phe)
|
|
|
NM_001277115.2(DNAH11):c.9133A>G (p.Met3045Val)
|
|
|
NM_001277115.2(DNAH11):c.9141T>C (p.His3047=)
|
|
|
NM_001277115.2(DNAH11):c.9145C>T (p.His3049Tyr)
|
|
|
NM_001277115.2(DNAH11):c.9147C>T (p.His3049=)
|
|
|
NM_001277115.2(DNAH11):c.9151A>G (p.Thr3051Ala)
|
|
|
NM_001277115.2(DNAH11):c.9168T>C (p.Ser3056=)
|
|
|
NM_001277115.2(DNAH11):c.9173G>C (p.Arg3058Thr)
|
|
|
NM_001277115.2(DNAH11):c.9177T>C (p.Tyr3059=)
|
|
|
NM_001277115.2(DNAH11):c.918C>T (p.Ile306=)
|
|
|
NM_001277115.2(DNAH11):c.9219T>C (p.Ser3073=)
|
|
|
NM_001277115.2(DNAH11):c.921G>A (p.Leu307=)
|
|
|
NM_001277115.2(DNAH11):c.9228A>G (p.Glu3076=)
|
|
|
NM_001277115.2(DNAH11):c.9241T>G (p.Phe3081Val)
|
|
|
NM_001277115.2(DNAH11):c.9261G>A (p.Lys3087=)
|
|
|
NM_001277115.2(DNAH11):c.9269A>G (p.Asn3090Ser)
|
|
|
NM_001277115.2(DNAH11):c.9273G>A (p.Glu3091=)
|
|
|
NM_001277115.2(DNAH11):c.9276A>G (p.Val3092=)
|
|
|
NM_001277115.2(DNAH11):c.9294C>T (p.Arg3098=)
|
rs562256432
|
|
NM_001277115.2(DNAH11):c.9297G>A (p.Leu3099=)
|
|
|
NM_001277115.2(DNAH11):c.9300G>A (p.Val3100=)
|
|
|
NM_001277115.2(DNAH11):c.9300G>C (p.Val3100=)
|
|
|
NM_001277115.2(DNAH11):c.9301A>G (p.Asn3101Asp)
|
|
|
NM_001277115.2(DNAH11):c.9312A>G (p.Gln3104=)
|
rs886062181
|
|
NM_001277115.2(DNAH11):c.9315G>A (p.Lys3105=)
|
|
|
NM_001277115.2(DNAH11):c.9318A>G (p.Leu3106=)
|
|
|
NM_001277115.2(DNAH11):c.9324C>T (p.Thr3108=)
|
|
|
NM_001277115.2(DNAH11):c.9333T>G (p.Ser3111=)
|
|
|
NM_001277115.2(DNAH11):c.9336+12A>C
|
|
|
NM_001277115.2(DNAH11):c.9336+15T>C
|
|
|
NM_001277115.2(DNAH11):c.9336+17T>G
|
|
|
NM_001277115.2(DNAH11):c.9336+20T>C
|
|
|
NM_001277115.2(DNAH11):c.9337-13A>G
|
rs2127982479
|
|
NM_001277115.2(DNAH11):c.9337-5T>A
|
|
|
NM_001277115.2(DNAH11):c.9337-7G>T
|
|
|
NM_001277115.2(DNAH11):c.9342A>G (p.Gly3114=)
|
|
|
NM_001277115.2(DNAH11):c.9345T>C (p.Asp3115=)
|
|
|
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.9375C>T (p.Ala3125=)
|
|
|
NM_001277115.2(DNAH11):c.9378G>C (p.Glu3126Asp)
|
|
|
NM_001277115.2(DNAH11):c.9393T>C (p.Asn3131=)
|
|
|
NM_001277115.2(DNAH11):c.9396T>C (p.His3132=)
|
|
|
NM_001277115.2(DNAH11):c.93C>T (p.Gly31=)
|
rs1219460682
|
|
NM_001277115.2(DNAH11):c.9402C>T (p.Ala3134=)
|
rs148800414
|
|
NM_001277115.2(DNAH11):c.9403G>A (p.Glu3135Lys)
|
|
|
NM_001277115.2(DNAH11):c.9409C>T (p.Leu3137=)
|
|
|
NM_001277115.2(DNAH11):c.9411G>T (p.Leu3137=)
|
|
|
NM_001277115.2(DNAH11):c.9423C>T (p.Ile3141=)
|
|
|
NM_001277115.2(DNAH11):c.9424G>A (p.Gly3142Ser)
|
|
|
NM_001277115.2(DNAH11):c.9426C>T (p.Gly3142=)
|
|
|
NM_001277115.2(DNAH11):c.9429T>C (p.Leu3143=)
|
|
|
NM_001277115.2(DNAH11):c.9447C>G (p.Ser3149Arg)
|
|
|
NM_001277115.2(DNAH11):c.9448C>A (p.Arg3150=)
|
|
|
NM_001277115.2(DNAH11):c.9453A>G (p.Glu3151=)
|
|
|
NM_001277115.2(DNAH11):c.9474G>A (p.Glu3158=)
|
|
|
NM_001277115.2(DNAH11):c.9480A>T (p.Arg3160=)
|
|
|
NM_001277115.2(DNAH11):c.9483+14C>G
|
rs776804231
|
|
NM_001277115.2(DNAH11):c.9483+18A>G
|
|
|
NM_001277115.2(DNAH11):c.9483+7C>T
|
|
|
NM_001277115.2(DNAH11):c.9484-12C>T
|
|
|
NM_001277115.2(DNAH11):c.9484-7T>C
|
|
|
NM_001277115.2(DNAH11):c.9484-7del
|
|
|
NM_001277115.2(DNAH11):c.9493A>G (p.Ile3165Val)
|
|
|
NM_001277115.2(DNAH11):c.9498G>A (p.Gln3166=)
|
|
|
NM_001277115.2(DNAH11):c.950C>G (p.Thr317Ser)
|
|
|
NM_001277115.2(DNAH11):c.9510C>T (p.Phe3170=)
|
|
|
NM_001277115.2(DNAH11):c.9512A>G (p.Gln3171Arg)
|
|
|
NM_001277115.2(DNAH11):c.9525A>T (p.Glu3175Asp)
|
|
|
NM_001277115.2(DNAH11):c.9528T>C (p.Cys3176=)
|
|
|
NM_001277115.2(DNAH11):c.9540A>G (p.Leu3180=)
|
|
|
NM_001277115.2(DNAH11):c.9541C>A (p.Leu3181Ile)
|
|
|
NM_001277115.2(DNAH11):c.9543C>T (p.Leu3181=)
|
rs757824695
|
|
NM_001277115.2(DNAH11):c.9545A>T (p.Lys3182Met)
|
|
|
NM_001277115.2(DNAH11):c.9558A>G (p.Ala3186=)
|
|
|
NM_001277115.2(DNAH11):c.9561G>A (p.Leu3187=)
|
rs6965750
|
|
NM_001277115.2(DNAH11):c.956A>G (p.Lys319Arg)
|
|
|
NM_001277115.2(DNAH11):c.9597+15T>C
|
|
|
NM_001277115.2(DNAH11):c.9598-10T>C
|
|
|
NM_001277115.2(DNAH11):c.9598-16G>C
|
|
|
NM_001277115.2(DNAH11):c.9598-18C>T
|
|
|
NM_001277115.2(DNAH11):c.9598-19T>C
|
|
|
NM_001277115.2(DNAH11):c.9598-24_9598-11del
|
|
|
NM_001277115.2(DNAH11):c.9598-7T>C
|
|
|
NM_001277115.2(DNAH11):c.9600C>T (p.Val3200=)
|
|
|
NM_001277115.2(DNAH11):c.9602A>G (p.Asn3201Ser)
|
rs762025592
|
|
NM_001277115.2(DNAH11):c.960C>T (p.Asp320=)
|
|
|
NM_001277115.2(DNAH11):c.9627C>A (p.Pro3209=)
|
|
|
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)
|
|
|
NM_001277115.2(DNAH11):c.9629A>G (p.Asn3210Ser)
|
|
|
NM_001277115.2(DNAH11):c.9640G>A (p.Ala3214Thr)
|
rs141979671
|
|
NM_001277115.2(DNAH11):c.9646A>G (p.Thr3216Ala)
|
|
|
NM_001277115.2(DNAH11):c.9664G>A (p.Val3222Met)
|
|
|
NM_001277115.2(DNAH11):c.9670G>C (p.Val3224Leu)
|
|
|
NM_001277115.2(DNAH11):c.9672C>T (p.Val3224=)
|
rs1583693892
|
|
NM_001277115.2(DNAH11):c.9686G>C (p.Arg3229Pro)
|
|
|
NM_001277115.2(DNAH11):c.9691A>C (p.Arg3231=)
|
|
|
NM_001277115.2(DNAH11):c.9699C>T (p.Pro3233=)
|
|
|
NM_001277115.2(DNAH11):c.9708A>G (p.Arg3236=)
|
|
|
NM_001277115.2(DNAH11):c.9717A>G (p.Lys3239=)
|
|
|
NM_001277115.2(DNAH11):c.9723T>C (p.Ala3241=)
|
|
|
NM_001277115.2(DNAH11):c.9729C>T (p.Val3243=)
|
|
|
NM_001277115.2(DNAH11):c.9735G>T (p.Met3245Ile)
|
|
|
NM_001277115.2(DNAH11):c.9741+10C>T
|
|
|
NM_001277115.2(DNAH11):c.9741+12G>A
|
|
|
NM_001277115.2(DNAH11):c.9741+12G>C
|
|
|
NM_001277115.2(DNAH11):c.9741+13C>A
|
|
|
NM_001277115.2(DNAH11):c.9741+14C>G
|
|
|
NM_001277115.2(DNAH11):c.9741+19A>T
|
|
|
NM_001277115.2(DNAH11):c.9742-14T>A
|
|
|
NM_001277115.2(DNAH11):c.9742-20T>C
|
|
|
NM_001277115.2(DNAH11):c.9742-4G>A
|
|
|
NM_001277115.2(DNAH11):c.9742-4G>C
|
|
|
NM_001277115.2(DNAH11):c.9742-4G>T
|
rs370896008
|
|
NM_001277115.2(DNAH11):c.9756G>A (p.Leu3252=)
|
|
|
NM_001277115.2(DNAH11):c.9766A>G (p.Ile3256Val)
|
|
|
NM_001277115.2(DNAH11):c.9768T>C (p.Ile3256=)
|
rs567962120
|
|
NM_001277115.2(DNAH11):c.9790C>G (p.Pro3264Ala)
|
|
|
NM_001277115.2(DNAH11):c.9792A>G (p.Pro3264=)
|
|
|
NM_001277115.2(DNAH11):c.9816T>C (p.Asn3272=)
|
|
|
NM_001277115.2(DNAH11):c.9816T>G (p.Asn3272Lys)
|
|
|
NM_001277115.2(DNAH11):c.9819A>T (p.Glu3273Asp)
|
rs778746926
|
|
NM_001277115.2(DNAH11):c.982+11T>C
|
|
|
NM_001277115.2(DNAH11):c.982+11T>G
|
|
|
NM_001277115.2(DNAH11):c.982+15C>G
|
|
|
NM_001277115.2(DNAH11):c.982+16C>T
|
|
|
NM_001277115.2(DNAH11):c.982+17T>G
|
|
|
NM_001277115.2(DNAH11):c.982+18C>T
|
|
|
NM_001277115.2(DNAH11):c.982+20G>C
|
|
|
NM_001277115.2(DNAH11):c.982+7del
|
|
|
NM_001277115.2(DNAH11):c.982+9C>T
|
|
|
NM_001277115.2(DNAH11):c.982+9_982+10del
|
|
|
NM_001277115.2(DNAH11):c.9824A>G (p.Tyr3275Cys)
|
|
|
NM_001277115.2(DNAH11):c.983-12C>A
|
|
|
NM_001277115.2(DNAH11):c.983-12C>G
|
|
|
NM_001277115.2(DNAH11):c.983-15G>A
|
|
|
NM_001277115.2(DNAH11):c.983-17T>G
|
|
|
NM_001277115.2(DNAH11):c.983-8G>C
|
|
|
NM_001277115.2(DNAH11):c.983-9T>C
|
|
|
NM_001277115.2(DNAH11):c.9831A>G (p.Lys3277=)
|
|
|
NM_001277115.2(DNAH11):c.9862A>T (p.Thr3288Ser)
|
|
|
NM_001277115.2(DNAH11):c.9880G>C (p.Ala3294Pro)
|
|
|
NM_001277115.2(DNAH11):c.9892G>T (p.Ala3298Ser)
|
|
|
NM_001277115.2(DNAH11):c.9894C>G (p.Ala3298=)
|
|
|
NM_001277115.2(DNAH11):c.9894C>T (p.Ala3298=)
|
|
|
NM_001277115.2(DNAH11):c.9898G>A (p.Val3300Ile)
|
|
|
NM_001277115.2(DNAH11):c.9900C>A (p.Val3300=)
|
|
|
NM_001277115.2(DNAH11):c.990C>G (p.Leu330=)
|
|
|
NM_001277115.2(DNAH11):c.9910A>G (p.Ile3304Val)
|
|
|
NM_001277115.2(DNAH11):c.9917T>G (p.Phe3306Cys)
|
|
|
NM_001277115.2(DNAH11):c.9921T>C (p.Tyr3307=)
|
rs369440793
|
|
NM_001277115.2(DNAH11):c.9924+10C>T
|
|
|
NM_001277115.2(DNAH11):c.9924+14A>G
|
|
|
NM_001277115.2(DNAH11):c.9924+20T>G
|
|
|
NM_001277115.2(DNAH11):c.9924+7A>G
|
rs762368078
|
|
NM_001277115.2(DNAH11):c.9924+7A>T
|
|
|
NM_001277115.2(DNAH11):c.9924+9C>A
|
|
|
NM_001277115.2(DNAH11):c.9924+9C>T
|
|
|
NM_001277115.2(DNAH11):c.9925-10G>T
|
|
|
NM_001277115.2(DNAH11):c.9925-12A>G
|
|
|
NM_001277115.2(DNAH11):c.9925-17A>G
|
|
|
NM_001277115.2(DNAH11):c.9925-17_9925-14del
|
|
|
NM_001277115.2(DNAH11):c.9951C>T (p.Arg3317=)
|
|
|
NM_001277115.2(DNAH11):c.9963C>T (p.Ala3321=)
|
|
|
NM_001277115.2(DNAH11):c.9972C>T (p.Asn3324=)
|
|
|
NM_001277115.2(DNAH11):c.997C>A (p.Gln333Lys)
|
|
|
NM_001277115.2(DNAH11):c.9981G>A (p.Leu3327=)
|
|
|
NM_001277115.2(DNAH11):c.9981G>C (p.Leu3327=)
|
|
|
NM_001277115.2(DNAH11):c.9988G>A (p.Ala3330Thr)
|
|
|
NM_001277115.2(DNAH11):c.9996A>G (p.Glu3332=)
|
rs2127988241
|
|
NM_001277115.2(DNAH11):c.999A>C (p.Gln333His)
|
|
|
NM_001277115.2(DNAH11):c.999A>G (p.Gln333=)
|
|
|
NM_001277115.2(DNAH11):c.99G>A (p.Val33=)
|
|
|
NM_001277115.2(DNAH11):c.9C>G (p.Ala3=)
|
|
|
NM_001364171.2(ODAD1):c.1065C>T (p.Ile355=)
|
|
|
NM_001364171.2(ODAD1):c.1071+10G>C
|
|
|
NM_001364171.2(ODAD1):c.1072-20A>G
|
|
|
NM_001364171.2(ODAD1):c.1092C>T (p.Ser364=)
|
|
|
NM_001364171.2(ODAD1):c.120G>A (p.Gly40=)
|
|
|
NM_001364171.2(ODAD1):c.1240+17G>A
|
|
|
NM_001364171.2(ODAD1):c.1240+9C>A
|
|
|
NM_001364171.2(ODAD1):c.1241-14C>T
|
|
|
NM_001364171.2(ODAD1):c.1241-15C>G
|
|
|
NM_001364171.2(ODAD1):c.1241-17G>A
|
|
|
NM_001364171.2(ODAD1):c.1241-18C>T
|
|
|
NM_001364171.2(ODAD1):c.1241-6A>T
|
|
|
NM_001364171.2(ODAD1):c.1260C>G (p.Thr420=)
|
|
|
NM_001364171.2(ODAD1):c.1273G>A (p.Asp425Asn)
|
|
|
NM_001364171.2(ODAD1):c.1287C>T (p.Ile429=)
|
|
|
NM_001364171.2(ODAD1):c.1323C>T (p.Asp441=)
|
|
|
NM_001364171.2(ODAD1):c.1360C>A (p.Arg454=)
|
|
|
NM_001364171.2(ODAD1):c.1380A>G (p.Thr460=)
|
|
|
NM_001364171.2(ODAD1):c.138C>T (p.Ser46=)
|
|
|
NM_001364171.2(ODAD1):c.1404+10G>A
|
|
|
NM_001364171.2(ODAD1):c.1405-5_1405-4del
|
|
|
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.1467G>A (p.Pro489=)
|
|
|
NM_001364171.2(ODAD1):c.1479C>G (p.Ala493=)
|
|
|
NM_001364171.2(ODAD1):c.1503-16_1503-12dup
|
|
|
NM_001364171.2(ODAD1):c.150C>T (p.His50=)
|
|
|
NM_001364171.2(ODAD1):c.1513_1514delinsTT (p.Pro505Leu)
|
rs2147308486
|
|
NM_001364171.2(ODAD1):c.1515G>C (p.Pro505=)
|
|
|
NM_001364171.2(ODAD1):c.1581+20G>C
|
rs1418690778
|
|
NM_001364171.2(ODAD1):c.1602G>A (p.Ala534=)
|
rs747363334
|
|
NM_001364171.2(ODAD1):c.1613G>A (p.Arg538His)
|
|
|
NM_001364171.2(ODAD1):c.1624C>T (p.Leu542=)
|
|
|
NM_001364171.2(ODAD1):c.1629CGC[5] (p.Ala547dup)
|
rs761748771
|
|
NM_001364171.2(ODAD1):c.1638C>T (p.Ala546=)
|
|
|
NM_001364171.2(ODAD1):c.1662C>T (p.Ser554=)
|
|
|
NM_001364171.2(ODAD1):c.1674C>T (p.Ala558=)
|
|
|
NM_001364171.2(ODAD1):c.170+12G>A
|
|
|
NM_001364171.2(ODAD1):c.1734C>T (p.Ile578=)
|
rs1394478466
|
|
NM_001364171.2(ODAD1):c.1842G>T (p.Thr614=)
|
|
|
NM_001364171.2(ODAD1):c.1875C>T (p.Phe625=)
|
|
|
NM_001364171.2(ODAD1):c.1926C>T (p.Ser642=)
|
|
|
NM_001364171.2(ODAD1):c.2004C>T (p.Ser668=)
|
|
|
NM_001364171.2(ODAD1):c.2016G>A (p.Ala672=)
|
|
|
NM_001364171.2(ODAD1):c.2025G>C (p.Ser675=)
|
|
|
NM_001364171.2(ODAD1):c.2028C>T (p.Ser676=)
|
|
|
NM_001364171.2(ODAD1):c.2040G>A (p.Gly680=)
|
|
|
NM_001364171.2(ODAD1):c.204C>A (p.Gly68=)
|
|
|
NM_001364171.2(ODAD1):c.2070C>T (p.Gly690=)
|
rs878855210
|
|
NM_001364171.2(ODAD1):c.2121C>T (p.Gly707=)
|
|
|
NM_001364171.2(ODAD1):c.270G>A (p.Leu90=)
|
rs2147336558
|
|
NM_001364171.2(ODAD1):c.284G>A (p.Arg95His)
|
|
|
NM_001364171.2(ODAD1):c.285C>T (p.Arg95=)
|
|
|
NM_001364171.2(ODAD1):c.300G>A (p.Arg100=)
|
|
|
NM_001364171.2(ODAD1):c.330G>T (p.Leu110=)
|
rs1600875570
|
|
NM_001364171.2(ODAD1):c.361-14C>A
|
|
|
NM_001364171.2(ODAD1):c.361-7C>T
|
|
|
NM_001364171.2(ODAD1):c.475T>C (p.Leu159=)
|
rs968591762
|
|
NM_001364171.2(ODAD1):c.483+15C>A
|
|
|
NM_001364171.2(ODAD1):c.484-13T>C
|
|
|
NM_001364171.2(ODAD1):c.484-15C>A
|
|
|
NM_001364171.2(ODAD1):c.540G>C (p.Leu180=)
|
|
|
NM_001364171.2(ODAD1):c.556G>T (p.Asp186Tyr)
|
rs372015636
|
|
NM_001364171.2(ODAD1):c.598-5C>G
|
|
|
NM_001364171.2(ODAD1):c.612G>A (p.Leu204=)
|
|
|
NM_001364171.2(ODAD1):c.665+16A>G
|
rs2147320831
|
|
NM_001364171.2(ODAD1):c.666-15G>A
|
|
|
NM_001364171.2(ODAD1):c.666-16C>T
|
|
|
NM_001364171.2(ODAD1):c.675G>A (p.Ala225=)
|
|
|
NM_001364171.2(ODAD1):c.696_697delinsTT (p.Arg233Trp)
|
rs1968544779
|
|
NM_001364171.2(ODAD1):c.785A>G (p.His262Arg)
|
|
|
NM_001364171.2(ODAD1):c.798C>T (p.Leu266=)
|
|
|
NM_001364171.2(ODAD1):c.807C>T (p.Asn269=)
|
rs200808081
|
|
NM_001364171.2(ODAD1):c.853+15G>A
|
|
|
NM_001364171.2(ODAD1):c.853+18G>A
|
|
|
NM_001364171.2(ODAD1):c.854-5C>T
|
|
|
NM_001364171.2(ODAD1):c.874G>A (p.Val292Ile)
|
rs571330368
|
|
NM_001364171.2(ODAD1):c.912C>T (p.Tyr304=)
|
|
|
NM_001364171.2(ODAD1):c.915G>A (p.Glu305=)
|
|
|
NM_001364171.2(ODAD1):c.936C>T (p.Ser312=)
|
|
|
NM_001364171.2(ODAD1):c.988+14T>C
|
|
|
NM_001364171.2(ODAD1):c.988+18T>G
|
|
|
NM_001364171.2(ODAD1):c.988+7G>T
|
|
|
NM_001364171.2(ODAD1):c.989-20G>A
|
|
|
NM_001364171.2(ODAD1):c.989-4C>G
|
|
|
NM_001364171.2(ODAD1):c.989-5C>A
|
|
|
NM_001364171.2(ODAD1):c.989-8T>C
|
|
|
NM_001364171.2(ODAD1):c.990C>T (p.Ile330=)
|
|
|
NM_001364171.2(ODAD1):c.996G>A (p.Glu332=)
|
|
|
NM_001369.3(DNAH5):c.10002C>T (p.Val3334=)
|
rs2126762263
|
|
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.10044C>T (p.Pro3348=)
|
rs369902800
|
|
NM_001369.3(DNAH5):c.10047C>T (p.Ser3349=)
|
|
|
NM_001369.3(DNAH5):c.10051C>A (p.Gln3351Lys)
|
|
|
NM_001369.3(DNAH5):c.10077A>G (p.Ala3359=)
|
|
|
NM_001369.3(DNAH5):c.10077A>T (p.Ala3359=)
|
|
|
NM_001369.3(DNAH5):c.10083C>T (p.Asn3361=)
|
rs768437432
|
|
NM_001369.3(DNAH5):c.10087T>C (p.Leu3363=)
|
|
|
NM_001369.3(DNAH5):c.10096T>C (p.Leu3366=)
|
rs1032546466
|
|
NM_001369.3(DNAH5):c.10101+11C>T
|
|
|
NM_001369.3(DNAH5):c.10101+12A>G
|
|
|
NM_001369.3(DNAH5):c.10101+7A>C
|
|
|
NM_001369.3(DNAH5):c.10101+7A>G
|
|
|
NM_001369.3(DNAH5):c.10101+8G>A
|
|
|
NM_001369.3(DNAH5):c.10102-10T>C
|
|
|
NM_001369.3(DNAH5):c.10102-10T>G
|
rs1307992178
|
|
NM_001369.3(DNAH5):c.10102-15T>C
|
|
|
NM_001369.3(DNAH5):c.10102-18T>C
|
|
|
NM_001369.3(DNAH5):c.10102-22_10102-19del
|
|
|
NM_001369.3(DNAH5):c.10102-4A>G
|
rs2126746618
|
|
NM_001369.3(DNAH5):c.10102-4del
|
rs1751979908
|
|
NM_001369.3(DNAH5):c.10102-5C>T
|
rs1318738786
|
|
NM_001369.3(DNAH5):c.10102-9C>G
|
rs762531071
|
|
NM_001369.3(DNAH5):c.1011A>G (p.Ala337=)
|
|
|
NM_001369.3(DNAH5):c.10122C>T (p.Ile3374=)
|
|
|
NM_001369.3(DNAH5):c.10131G>A (p.Glu3377=)
|
|
|
NM_001369.3(DNAH5):c.10134G>A (p.Val3378=)
|
rs761451180
|
|
NM_001369.3(DNAH5):c.1014T>A (p.Thr338=)
|
|
|
NM_001369.3(DNAH5):c.10152T>G (p.Pro3384=)
|
|
|
NM_001369.3(DNAH5):c.10170C>T (p.Asp3390=)
|
rs2126746270
|
|
NM_001369.3(DNAH5):c.10179C>A (p.Ile3393=)
|
|
|
NM_001369.3(DNAH5):c.10182A>G (p.Glu3394=)
|
|
|
NM_001369.3(DNAH5):c.10191A>G (p.Lys3397=)
|
rs1250972452
|
|
NM_001369.3(DNAH5):c.10196T>C (p.Val3399Ala)
|
|
|
NM_001369.3(DNAH5):c.10197A>C (p.Val3399=)
|
rs756720477
|
|
NM_001369.3(DNAH5):c.10203A>G (p.Gly3401=)
|
|
|
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.10224C>T (p.Ser3408=)
|
rs1751963683
|
|
NM_001369.3(DNAH5):c.10240G>T (p.Ala3414Ser)
|
|
|
NM_001369.3(DNAH5):c.10254T>C (p.Ser3418=)
|
rs1282684944
|
|
NM_001369.3(DNAH5):c.10257A>C (p.Ile3419=)
|
|
|
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=)
|
|
|
NM_001369.3(DNAH5):c.10281+10C>G
|
|
|
NM_001369.3(DNAH5):c.10281+12A>G
|
|
|
NM_001369.3(DNAH5):c.10282-13G>A
|
|
|
NM_001369.3(DNAH5):c.10282-14T>C
|
|
|
NM_001369.3(DNAH5):c.10282-15G>A
|
|
|
NM_001369.3(DNAH5):c.10282-17G>A
|
|
|
NM_001369.3(DNAH5):c.10282-17GT[3]
|
rs2126728447
|
|
NM_001369.3(DNAH5):c.10282-18T>G
|
|
|
NM_001369.3(DNAH5):c.10282-19C>G
|
|
|
NM_001369.3(DNAH5):c.10282-7T>C
|
|
|
NM_001369.3(DNAH5):c.10282-7T>G
|
|
|
NM_001369.3(DNAH5):c.10282-8C>T
|
rs1315633907
|
|
NM_001369.3(DNAH5):c.10284C>T (p.Ala3428=)
|
|
|
NM_001369.3(DNAH5):c.10288T>C (p.Leu3430=)
|
rs1356696172
|
|
NM_001369.3(DNAH5):c.1028A>G (p.Asp343Gly)
|
|
|
NM_001369.3(DNAH5):c.10292T>C (p.Val3431Ala)
|
|
|
NM_001369.3(DNAH5):c.10296G>A (p.Val3432=)
|
rs1353093059
|
|
NM_001369.3(DNAH5):c.1029C>T (p.Asp343=)
|
|
|
NM_001369.3(DNAH5):c.10302G>T (p.Glu3434Asp)
|
|
|
NM_001369.3(DNAH5):c.1030A>C (p.Asn344His)
|
|
|
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.10348G>A (p.Glu3450Lys)
|
|
|
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)
|
|
|
NM_001369.3(DNAH5):c.10374T>C (p.Leu3458=)
|
rs768186812
|
|
NM_001369.3(DNAH5):c.10383G>A (p.Val3461=)
|
rs1751389672
|
|
NM_001369.3(DNAH5):c.1038A>G (p.Lys346=)
|
|
|
NM_001369.3(DNAH5):c.10396G>A (p.Glu3466Lys)
|
|
|
NM_001369.3(DNAH5):c.10405A>G (p.Met3469Val)
|
|
|
NM_001369.3(DNAH5):c.10419+14G>C
|
rs1751377263
|
|
NM_001369.3(DNAH5):c.10419+14G>T
|
|
|
NM_001369.3(DNAH5):c.10419+20G>A
|
|
|
NM_001369.3(DNAH5):c.10419+7G>T
|
rs2126727429
|
|
NM_001369.3(DNAH5):c.1041C>T (p.Tyr347=)
|
rs2151986754
|
|
NM_001369.3(DNAH5):c.10420-10C>A
|
|
|
NM_001369.3(DNAH5):c.10420-12G>A
|
|
|
NM_001369.3(DNAH5):c.10420-13T>C
|
|
|
NM_001369.3(DNAH5):c.10420-18G>A
|
|
|
NM_001369.3(DNAH5):c.10420-18G>T
|
|
|
NM_001369.3(DNAH5):c.10420-5G>A
|
rs754497052
|
|
NM_001369.3(DNAH5):c.10420-6del
|
|
|
NM_001369.3(DNAH5):c.10420-9C>G
|
rs2126706818
|
|
NM_001369.3(DNAH5):c.10422C>T (p.Thr3474=)
|
|
|
NM_001369.3(DNAH5):c.10428T>C (p.Leu3476=)
|
rs2126706709
|
|
NM_001369.3(DNAH5):c.1042T>C (p.Leu348=)
|
|
|
NM_001369.3(DNAH5):c.10432G>A (p.Asp3478Asn)
|
|
|
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.10443A>T (p.Arg3481=)
|
rs1554035381
|
|
NM_001369.3(DNAH5):c.1044G>A (p.Leu348=)
|
rs2151986750
|
|
NM_001369.3(DNAH5):c.10452C>T (p.His3484=)
|
|
|
NM_001369.3(DNAH5):c.10464A>G (p.Thr3488=)
|
rs2126706410
|
|
NM_001369.3(DNAH5):c.10467T>C (p.Ala3489=)
|
|
|
NM_001369.3(DNAH5):c.10470C>T (p.Ser3490=)
|
rs1750680564
|
|
NM_001369.3(DNAH5):c.10473G>T (p.Thr3491=)
|
|
|
NM_001369.3(DNAH5):c.10476C>T (p.Leu3492=)
|
|
|
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.1050A>G (p.Thr350=)
|
|
|
NM_001369.3(DNAH5):c.1050A>T (p.Thr350=)
|
rs2151986716
|
|
NM_001369.3(DNAH5):c.10515G>A (p.Glu3505=)
|
|
|
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.10552G>C (p.Val3518Leu)
|
|
|
NM_001369.3(DNAH5):c.10555+14T>A
|
|
|
NM_001369.3(DNAH5):c.10555+15T>C
|
|
|
NM_001369.3(DNAH5):c.10555+16T>A
|
|
|
NM_001369.3(DNAH5):c.10555+7A>T
|
rs2126705752
|
|
NM_001369.3(DNAH5):c.10555+9A>G
|
rs2126705731
|
|
NM_001369.3(DNAH5):c.10556-14G>A
|
rs2126702410
|
|
NM_001369.3(DNAH5):c.10556-15T>C
|
rs754992743
|
|
NM_001369.3(DNAH5):c.10556-17T>A
|
|
|
NM_001369.3(DNAH5):c.10556-18G>C
|
|
|
NM_001369.3(DNAH5):c.10556-7A>G
|
rs1020511618
|
|
NM_001369.3(DNAH5):c.10556-8T>A
|
rs2126702377
|
|
NM_001369.3(DNAH5):c.10556-9C>G
|
|
|
NM_001369.3(DNAH5):c.10557G>A (p.Gly3519=)
|
rs2126702324
|
|
NM_001369.3(DNAH5):c.10560T>C (p.Asp3520=)
|
|
|
NM_001369.3(DNAH5):c.10563A>G (p.Val3521=)
|
|
|
NM_001369.3(DNAH5):c.10564C>T (p.Leu3522=)
|
|
|
NM_001369.3(DNAH5):c.10572T>C (p.Ala3524=)
|
|
|
NM_001369.3(DNAH5):c.10578T>C (p.Ala3526=)
|
|
|
NM_001369.3(DNAH5):c.10581T>C (p.Phe3527=)
|
rs539286465
|
|
NM_001369.3(DNAH5):c.10582C>T (p.Leu3528=)
|
|
|
NM_001369.3(DNAH5):c.10590T>C (p.Tyr3530=)
|
rs774032957
|
|
NM_001369.3(DNAH5):c.105G>A (p.Ala35=)
|
rs753457503
|
|
NM_001369.3(DNAH5):c.10626G>A (p.Leu3542=)
|
rs1376078058
|
|
NM_001369.3(DNAH5):c.10639C>G (p.Arg3547Gly)
|
rs747041428
|
|
NM_001369.3(DNAH5):c.10644G>A (p.Lys3548=)
|
rs2126701753
|
|
NM_001369.3(DNAH5):c.10656C>A (p.Ala3552=)
|
rs757642030
|
|
NM_001369.3(DNAH5):c.10656C>T (p.Ala3552=)
|
|
|
NM_001369.3(DNAH5):c.10659G>C (p.Arg3553=)
|
|
|
NM_001369.3(DNAH5):c.10668A>C (p.Pro3556=)
|
|
|
NM_001369.3(DNAH5):c.10707T>C (p.Asp3569=)
|
rs2126701355
|
|
NM_001369.3(DNAH5):c.10710T>A (p.Ala3570=)
|
|
|
NM_001369.3(DNAH5):c.10713T>C (p.Pro3571=)
|
|
|
NM_001369.3(DNAH5):c.1071T>A (p.Pro357=)
|
|
|
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.1074G>A (p.Leu358=)
|
rs1176863097
|
|
NM_001369.3(DNAH5):c.10752T>C (p.Asp3584=)
|
|
|
NM_001369.3(DNAH5):c.10755C>T (p.Asp3585=)
|
|
|
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=)
|
|
|
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.10779T>C (p.Ile3593=)
|
rs2126700875
|
|
NM_001369.3(DNAH5):c.1077C>T (p.Tyr359=)
|
|
|
NM_001369.3(DNAH5):c.10782C>T (p.Val3594=)
|
rs2126700829
|
|
NM_001369.3(DNAH5):c.10785G>C (p.Thr3595=)
|
rs144055129
|
|
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.10807T>C (p.Leu3603=)
|
|
|
NM_001369.3(DNAH5):c.10818A>G (p.Pro3606=)
|
|
|
NM_001369.3(DNAH5):c.1081A>C (p.Ser361Arg)
|
|
|
NM_001369.3(DNAH5):c.10835T>A (p.Ile3612Asn)
|
|
|
NM_001369.3(DNAH5):c.10848T>C (p.Asn3616=)
|
rs371211976
|
|
NM_001369.3(DNAH5):c.10852G>A (p.Glu3618Lys)
|
|
|
NM_001369.3(DNAH5):c.10858C>A (p.Arg3620=)
|
rs1283070426
|
|
NM_001369.3(DNAH5):c.10859G>A (p.Arg3620Gln)
|
|
|
NM_001369.3(DNAH5):c.10872+14T>C
|
|
|
NM_001369.3(DNAH5):c.10872+15A>G
|
|
|
NM_001369.3(DNAH5):c.10872+15A>T
|
|
|
NM_001369.3(DNAH5):c.10872+16G>C
|
|
|
NM_001369.3(DNAH5):c.10872+17T>C
|
|
|
NM_001369.3(DNAH5):c.10872+19T>C
|
rs1390184580
|
|
NM_001369.3(DNAH5):c.10872+7T>A
|
|
|
NM_001369.3(DNAH5):c.10872+8_10872+13del
|
|
|
NM_001369.3(DNAH5):c.10872+9T>G
|
rs1580066952
|
|
NM_001369.3(DNAH5):c.10873-15T>C
|
|
|
NM_001369.3(DNAH5):c.10873-16G>A
|
|
|
NM_001369.3(DNAH5):c.10873-8G>T
|
|
|
NM_001369.3(DNAH5):c.10873-9T>C
|
rs2126695522
|
|
NM_001369.3(DNAH5):c.10875C>T (p.Ile3625=)
|
|
|
NM_001369.3(DNAH5):c.1089+10G>A
|
rs2151986613
|
|
NM_001369.3(DNAH5):c.1089+13T>C
|
|
|
NM_001369.3(DNAH5):c.1089+18A>C
|
|
|
NM_001369.3(DNAH5):c.1089+18A>G
|
|
|
NM_001369.3(DNAH5):c.1089+19C>T
|
|
|
NM_001369.3(DNAH5):c.1089+20T>C
|
|
|
NM_001369.3(DNAH5):c.10890C>G (p.His3630Gln)
|
|
|
NM_001369.3(DNAH5):c.108G>A (p.Arg36=)
|
rs1227915144
|
|
NM_001369.3(DNAH5):c.1090-16T>G
|
|
|
NM_001369.3(DNAH5):c.1090-17T>C
|
|
|
NM_001369.3(DNAH5):c.1090-6T>C
|
rs886060015
|
|
NM_001369.3(DNAH5):c.1090-7C>A
|
|
|
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
|
|
|
NM_001369.3(DNAH5):c.1090-9_1090-8del
|
|
|
NM_001369.3(DNAH5):c.10926T>C (p.Ser3642=)
|
|
|
NM_001369.3(DNAH5):c.1092A>C (p.Leu364=)
|
|
|
NM_001369.3(DNAH5):c.10938T>G (p.Pro3646=)
|
|
|
NM_001369.3(DNAH5):c.10950A>G (p.Glu3650=)
|
rs1750335994
|
|
NM_001369.3(DNAH5):c.10954G>A (p.Val3652Ile)
|
|
|
NM_001369.3(DNAH5):c.10977A>G (p.Ala3659=)
|
rs2126694781
|
|
NM_001369.3(DNAH5):c.10978C>T (p.Leu3660=)
|
|
|
NM_001369.3(DNAH5):c.10983T>C (p.Asp3661=)
|
rs886059971
|
|
NM_001369.3(DNAH5):c.10986T>C (p.Asn3662=)
|
rs1238800897
|
|
NM_001369.3(DNAH5):c.10998A>G (p.Arg3666=)
|
|
|
NM_001369.3(DNAH5):c.11016G>T (p.Gly3672=)
|
rs1580060938
|
|
NM_001369.3(DNAH5):c.11028+11C>A
|
|
|
NM_001369.3(DNAH5):c.11028+12C>G
|
|
|
NM_001369.3(DNAH5):c.11028+12C>T
|
|
|
NM_001369.3(DNAH5):c.11028+13T>G
|
|
|
NM_001369.3(DNAH5):c.11028+14A>G
|
|
|
NM_001369.3(DNAH5):c.11028+8A>T
|
|
|
NM_001369.3(DNAH5):c.11029-10T>C
|
|
|
NM_001369.3(DNAH5):c.11029-14T>C
|
|
|
NM_001369.3(DNAH5):c.11029-20A>C
|
|
|
NM_001369.3(DNAH5):c.11029-8T>C
|
rs2126690241
|
|
NM_001369.3(DNAH5):c.11029-9A>G
|
|
|
NM_001369.3(DNAH5):c.11038G>T (p.Gly3680Cys)
|
|
|
NM_001369.3(DNAH5):c.11056G>A (p.Val3686Met)
|
|
|
NM_001369.3(DNAH5):c.11058G>C (p.Val3686=)
|
|
|
NM_001369.3(DNAH5):c.11058G>T (p.Val3686=)
|
rs1372654063
|
|
NM_001369.3(DNAH5):c.1105G>A (p.Ala369Thr)
|
|
|
NM_001369.3(DNAH5):c.11064T>C (p.Asp3688=)
|
|
|
NM_001369.3(DNAH5):c.11070T>C (p.Phe3690=)
|
rs2126689884
|
|
NM_001369.3(DNAH5):c.11071A>C (p.Arg3691=)
|
|
|
NM_001369.3(DNAH5):c.11073A>G (p.Arg3691=)
|
rs2126689848
|
|
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=)
|
|
|
NM_001369.3(DNAH5):c.11094G>A (p.Leu3698=)
|
rs2126689664
|
|
NM_001369.3(DNAH5):c.11109C>T (p.Tyr3703=)
|
rs2126689531
|
|
NM_001369.3(DNAH5):c.11127C>T (p.Ala3709=)
|
|
|
NM_001369.3(DNAH5):c.11128C>T (p.Arg3710Cys)
|
|
|
NM_001369.3(DNAH5):c.11133C>G (p.Thr3711=)
|
|
|
NM_001369.3(DNAH5):c.1113T>C (p.Pro371=)
|
|
|
NM_001369.3(DNAH5):c.11149A>G (p.Thr3717Ala)
|
|
|
NM_001369.3(DNAH5):c.11169A>G (p.Leu3723=)
|
|
|
NM_001369.3(DNAH5):c.11211+10G>A
|
rs1561171849
|
|
NM_001369.3(DNAH5):c.11211+15G>A
|
|
|
NM_001369.3(DNAH5):c.11211+15G>C
|
|
|
NM_001369.3(DNAH5):c.11211+17T>A
|
|
|
NM_001369.3(DNAH5):c.11211+19C>A
|
|
|
NM_001369.3(DNAH5):c.11212-12G>T
|
|
|
NM_001369.3(DNAH5):c.11212-6T>C
|
rs1391603456
|
|
NM_001369.3(DNAH5):c.11212-6T>G
|
|
|
NM_001369.3(DNAH5):c.11214A>G (p.Glu3738=)
|
|
|
NM_001369.3(DNAH5):c.11229A>G (p.Arg3743=)
|
|
|
NM_001369.3(DNAH5):c.1122A>T (p.Ile374=)
|
|
|
NM_001369.3(DNAH5):c.11239A>T (p.Met3747Leu)
|
|
|
NM_001369.3(DNAH5):c.11245G>T (p.Asp3749Tyr)
|
|
|
NM_001369.3(DNAH5):c.11246A>T (p.Asp3749Val)
|
rs34447134
|
|
NM_001369.3(DNAH5):c.11247T>C (p.Asp3749=)
|
|
|
NM_001369.3(DNAH5):c.11256A>G (p.Ala3752=)
|
rs1747688046
|
|
NM_001369.3(DNAH5):c.11259C>T (p.Asn3753=)
|
|
|
NM_001369.3(DNAH5):c.11268G>A (p.Arg3756=)
|
|
|
NM_001369.3(DNAH5):c.11271G>A (p.Met3757Ile)
|
|
|
NM_001369.3(DNAH5):c.11277A>G (p.Glu3759=)
|
rs2126621365
|
|
NM_001369.3(DNAH5):c.11292G>A (p.Leu3764=)
|
rs1435603022
|
|
NM_001369.3(DNAH5):c.11295T>C (p.Leu3765=)
|
|
|
NM_001369.3(DNAH5):c.11300G>T (p.Arg3767Leu)
|
|
|
NM_001369.3(DNAH5):c.11304G>A (p.Leu3768=)
|
|
|
NM_001369.3(DNAH5):c.11319G>T (p.Gly3773=)
|
rs1002731861
|
|
NM_001369.3(DNAH5):c.11333A>G (p.Asp3778Gly)
|
|
|
NM_001369.3(DNAH5):c.11334T>C (p.Asp3778=)
|
|
|
NM_001369.3(DNAH5):c.11349C>A (p.Val3783=)
|
rs774415631
|
|
NM_001369.3(DNAH5):c.11350G>A (p.Val3784Met)
|
|
|
NM_001369.3(DNAH5):c.11358T>C (p.Ser3786=)
|
rs2126620518
|
|
NM_001369.3(DNAH5):c.11379G>A (p.Glu3793=)
|
|
|
NM_001369.3(DNAH5):c.11386A>T (p.Thr3796Ser)
|
|
|
NM_001369.3(DNAH5):c.11394G>A (p.Lys3798=)
|
|
|
NM_001369.3(DNAH5):c.11397A>G (p.Leu3799=)
|
|
|
NM_001369.3(DNAH5):c.11415A>G (p.Thr3805=)
|
rs1332328322
|
|
NM_001369.3(DNAH5):c.11418A>C (p.Glu3806Asp)
|
|
|
NM_001369.3(DNAH5):c.11419G>C (p.Val3807Leu)
|
|
|
NM_001369.3(DNAH5):c.11433A>C (p.Ser3811=)
|
|
|
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.11448C>T (p.Tyr3816=)
|
|
|
NM_001369.3(DNAH5):c.11455+10del
|
|
|
NM_001369.3(DNAH5):c.11455+11T>C
|
|
|
NM_001369.3(DNAH5):c.11455+14T>C
|
|
|
NM_001369.3(DNAH5):c.11455+15G>T
|
|
|
NM_001369.3(DNAH5):c.11456-20C>A
|
|
|
NM_001369.3(DNAH5):c.11456-20C>T
|
|
|
NM_001369.3(DNAH5):c.11456-7C>T
|
|
|
NM_001369.3(DNAH5):c.11456-9G>A
|
rs2126611325
|
|
NM_001369.3(DNAH5):c.11462C>T (p.Thr3821Met)
|
|
|
NM_001369.3(DNAH5):c.11478C>G (p.Leu3826=)
|
|
|
NM_001369.3(DNAH5):c.11481C>T (p.Tyr3827=)
|
rs2126611126
|
|
NM_001369.3(DNAH5):c.11487C>G (p.Leu3829=)
|
|
|
NM_001369.3(DNAH5):c.1148T>G (p.Ile383Ser)
|
|
|
NM_001369.3(DNAH5):c.11501G>A (p.Arg3834His)
|
|
|
NM_001369.3(DNAH5):c.11526T>A (p.Thr3842=)
|
|
|
NM_001369.3(DNAH5):c.11534G>T (p.Arg3845Leu)
|
|
|
NM_001369.3(DNAH5):c.11547C>A (p.Gly3849=)
|
|
|
NM_001369.3(DNAH5):c.11547C>T (p.Gly3849=)
|
|
|
NM_001369.3(DNAH5):c.11550A>G (p.Leu3850=)
|
|
|
NM_001369.3(DNAH5):c.11570+12C>T
|
rs536584175
|
|
NM_001369.3(DNAH5):c.11570+14C>A
|
|
|
NM_001369.3(DNAH5):c.11570+14C>T
|
|
|
NM_001369.3(DNAH5):c.11570+15G>A
|
|
|
NM_001369.3(DNAH5):c.11570+6_11570+8dup
|
rs2126610451
|
|
NM_001369.3(DNAH5):c.11570+7C>T
|
|
|
NM_001369.3(DNAH5):c.11570+7_11570+10dup
|
|
|
NM_001369.3(DNAH5):c.11570+9G>T
|
rs1206430080
|
|
NM_001369.3(DNAH5):c.11571-20T>G
|
|
|
NM_001369.3(DNAH5):c.11574T>C (p.Ser3858=)
|
rs188088000
|
|
NM_001369.3(DNAH5):c.11585C>T (p.Pro3862Leu)
|
|
|
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=)
|
|
|
NM_001369.3(DNAH5):c.11601G>A (p.Arg3867=)
|
rs535536722
|
|
NM_001369.3(DNAH5):c.11610T>C (p.Asn3870=)
|
rs2126607616
|
|
NM_001369.3(DNAH5):c.11614A>T (p.Ile3872Phe)
|
rs572139897
|
|
NM_001369.3(DNAH5):c.11615T>C (p.Ile3872Thr)
|
|
|
NM_001369.3(DNAH5):c.11616C>A (p.Ile3872=)
|
|
|
NM_001369.3(DNAH5):c.11616C>T (p.Ile3872=)
|
rs773699669
|
|
NM_001369.3(DNAH5):c.11617G>A (p.Glu3873Lys)
|
|
|
NM_001369.3(DNAH5):c.11622C>T (p.His3874=)
|
|
|
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.11658G>T (p.Gly3886=)
|
|
|
NM_001369.3(DNAH5):c.11661G>A (p.Leu3887=)
|
|
|
NM_001369.3(DNAH5):c.11670G>A (p.Glu3890=)
|
|
|
NM_001369.3(DNAH5):c.11685C>T (p.Phe3895=)
|
rs149892711
|
|
NM_001369.3(DNAH5):c.11686A>G (p.Thr3896Ala)
|
|
|
NM_001369.3(DNAH5):c.11687C>T (p.Thr3896Ile)
|
|
|
NM_001369.3(DNAH5):c.11692T>C (p.Leu3898=)
|
|
|
NM_001369.3(DNAH5):c.11715C>T (p.Ile3905=)
|
rs2126606748
|
|
NM_001369.3(DNAH5):c.11726G>A (p.Arg3909Gln)
|
rs761043906
|
|
NM_001369.3(DNAH5):c.11739A>G (p.Glu3913=)
|
rs748787177
|
|
NM_001369.3(DNAH5):c.11762-17A>C
|
|
|
NM_001369.3(DNAH5):c.11762-18T>C
|
|
|
NM_001369.3(DNAH5):c.11762-20T>C
|
|
|
NM_001369.3(DNAH5):c.11765G>A (p.Gly3922Asp)
|
|
|
NM_001369.3(DNAH5):c.1176G>A (p.Lys392=)
|
rs992976251
|
|
NM_001369.3(DNAH5):c.1176G>C (p.Lys392Asn)
|
|
|
NM_001369.3(DNAH5):c.11772A>C (p.Ser3924=)
|
rs764541822
|
|
NM_001369.3(DNAH5):c.11785G>A (p.Ala3929Thr)
|
|
|
NM_001369.3(DNAH5):c.11801C>G (p.Pro3934Arg)
|
|
|
NM_001369.3(DNAH5):c.11802A>G (p.Pro3934=)
|
|
|
NM_001369.3(DNAH5):c.11803T>A (p.Ser3935Thr)
|
rs145685491
|
|
NM_001369.3(DNAH5):c.11805A>G (p.Ser3935=)
|
rs1746208138
|
|
NM_001369.3(DNAH5):c.11815C>T (p.Leu3939=)
|
rs764968328
|
|
NM_001369.3(DNAH5):c.11820C>T (p.Asp3940=)
|
|
|
NM_001369.3(DNAH5):c.1182A>T (p.Thr394=)
|
rs1580874077
|
|
NM_001369.3(DNAH5):c.11831T>C (p.Leu3944Pro)
|
|
|
NM_001369.3(DNAH5):c.11847T>C (p.Leu3949=)
|
|
|
NM_001369.3(DNAH5):c.11850C>T (p.Ser3950=)
|
rs778951473
|
|
NM_001369.3(DNAH5):c.11859A>G (p.Arg3953=)
|
|
|
NM_001369.3(DNAH5):c.11871T>C (p.Asp3957=)
|
|
|
NM_001369.3(DNAH5):c.11874C>T (p.Val3958=)
|
|
|
NM_001369.3(DNAH5):c.11877T>G (p.Leu3959=)
|
rs756257947
|
|
NM_001369.3(DNAH5):c.11883+14G>C
|
|
|
NM_001369.3(DNAH5):c.11883+16A>G
|
|
|
NM_001369.3(DNAH5):c.11883+7G>C
|
|
|
NM_001369.3(DNAH5):c.11884-10G>T
|
|
|
NM_001369.3(DNAH5):c.11884-12T>C
|
|
|
NM_001369.3(DNAH5):c.11884-15C>T
|
|
|
NM_001369.3(DNAH5):c.11884-16C>A
|
|
|
NM_001369.3(DNAH5):c.11884-17T>A
|
|
|
NM_001369.3(DNAH5):c.11884-18dup
|
|
|
NM_001369.3(DNAH5):c.11884-6T>C
|
rs769811671
|
|
NM_001369.3(DNAH5):c.11888C>T (p.Ser3963Leu)
|
|
|
NM_001369.3(DNAH5):c.11895T>C (p.Asn3965=)
|
|
|
NM_001369.3(DNAH5):c.11898G>A (p.Glu3966=)
|
rs2126564900
|
|
NM_001369.3(DNAH5):c.11913T>C (p.Ile3971=)
|
|
|
NM_001369.3(DNAH5):c.11922T>C (p.Asp3974=)
|
|
|
NM_001369.3(DNAH5):c.11925G>A (p.Lys3975=)
|
rs2126564748
|
|
NM_001369.3(DNAH5):c.11931C>T (p.Asn3977=)
|
|
|
NM_001369.3(DNAH5):c.11946T>G (p.Pro3982=)
|
|
|
NM_001369.3(DNAH5):c.1194A>C (p.Val398=)
|
|
|
NM_001369.3(DNAH5):c.11952A>G (p.Pro3984=)
|
|
|
NM_001369.3(DNAH5):c.11957C>T (p.Ala3986Val)
|
|
|
NM_001369.3(DNAH5):c.11958C>T (p.Ala3986=)
|
rs2126564466
|
|
NM_001369.3(DNAH5):c.11961T>C (p.Tyr3987=)
|
|
|
NM_001369.3(DNAH5):c.1197+13T>A
|
|
|
NM_001369.3(DNAH5):c.1197+13del
|
|
|
NM_001369.3(DNAH5):c.1197+18A>C
|
|
|
NM_001369.3(DNAH5):c.1197+20T>A
|
|
|
NM_001369.3(DNAH5):c.1197+20T>C
|
|
|
NM_001369.3(DNAH5):c.1197+8C>A
|
rs2151985253
|
|
NM_001369.3(DNAH5):c.11970T>C (p.Ser3990=)
|
|
|
NM_001369.3(DNAH5):c.1198-13T>G
|
|
|
NM_001369.3(DNAH5):c.1198-16T>C
|
|
|
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>A (p.Arg3996His)
|
|
|
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.11997T>C (p.Leu3999=)
|
|
|
NM_001369.3(DNAH5):c.11T>C (p.Ile4Thr)
|
|
|
NM_001369.3(DNAH5):c.12024C>A (p.Thr4008=)
|
|
|
NM_001369.3(DNAH5):c.12028G>A (p.Ala4010Thr)
|
|
|
NM_001369.3(DNAH5):c.12030C>T (p.Ala4010=)
|
rs2126563946
|
|
NM_001369.3(DNAH5):c.12033+12A>G
|
|
|
NM_001369.3(DNAH5):c.12033+14A>G
|
|
|
NM_001369.3(DNAH5):c.12033+20G>A
|
|
|
NM_001369.3(DNAH5):c.12033+7A>C
|
rs77541151
|
|
NM_001369.3(DNAH5):c.12034-10T>A
|
|
|
NM_001369.3(DNAH5):c.12034-14A>G
|
|
|
NM_001369.3(DNAH5):c.12034-16A>G
|
|
|
NM_001369.3(DNAH5):c.12034-19T>C
|
|
|
NM_001369.3(DNAH5):c.12034-19del
|
|
|
NM_001369.3(DNAH5):c.12037C>T (p.Arg4013Cys)
|
|
|
NM_001369.3(DNAH5):c.1203A>C (p.Thr401=)
|
rs2151982352
|
|
NM_001369.3(DNAH5):c.12046A>C (p.Ile4016Leu)
|
|
|
NM_001369.3(DNAH5):c.12050T>G (p.Val4017Gly)
|
|
|
NM_001369.3(DNAH5):c.12057C>T (p.Ser4019=)
|
rs2126531557
|
|
NM_001369.3(DNAH5):c.12059T>C (p.Met4020Thr)
|
|
|
NM_001369.3(DNAH5):c.12072T>C (p.Tyr4024=)
|
rs1375859408
|
|
NM_001369.3(DNAH5):c.1207C>A (p.Gln403Lys)
|
|
|
NM_001369.3(DNAH5):c.12081T>A (p.Gly4027=)
|
|
|
NM_001369.3(DNAH5):c.12105G>T (p.Thr4035=)
|
rs199735129
|
|
NM_001369.3(DNAH5):c.12114A>G (p.Glu4038=)
|
|
|
NM_001369.3(DNAH5):c.12123A>G (p.Pro4041=)
|
|
|
NM_001369.3(DNAH5):c.12135C>T (p.Leu4045=)
|
|
|
NM_001369.3(DNAH5):c.12136A>G (p.Ile4046Val)
|
|
|
NM_001369.3(DNAH5):c.12151A>G (p.Met4051Val)
|
rs138162689
|
|
NM_001369.3(DNAH5):c.12172T>C (p.Ser4058Pro)
|
|
|
NM_001369.3(DNAH5):c.1217C>A (p.Ser406Tyr)
|
|
|
NM_001369.3(DNAH5):c.121T>C (p.Phe41Leu)
|
|
|
NM_001369.3(DNAH5):c.12201A>G (p.Lys4067=)
|
|
|
NM_001369.3(DNAH5):c.12206A>T (p.Glu4069Val)
|
|
|
NM_001369.3(DNAH5):c.12216T>C (p.Tyr4072=)
|
|
|
NM_001369.3(DNAH5):c.12223A>G (p.Met4075Val)
|
|
|
NM_001369.3(DNAH5):c.12225G>C (p.Met4075Ile)
|
|
|
NM_001369.3(DNAH5):c.12249T>C (p.Ala4083=)
|
rs1744982412
|
|
NM_001369.3(DNAH5):c.12255G>A (p.Lys4085=)
|
|
|
NM_001369.3(DNAH5):c.12262C>A (p.Gln4088Lys)
|
|
|
NM_001369.3(DNAH5):c.12264G>T (p.Gln4088His)
|
|
|
NM_001369.3(DNAH5):c.12267G>A (p.Gln4089=)
|
|
|
NM_001369.3(DNAH5):c.12270C>T (p.Thr4090=)
|
|
|
NM_001369.3(DNAH5):c.12276G>C (p.Ala4092=)
|
rs763359823
|
|
NM_001369.3(DNAH5):c.12279+13A>G
|
|
|
NM_001369.3(DNAH5):c.12279+16C>T
|
|
|
NM_001369.3(DNAH5):c.12279+19C>G
|
|
|
NM_001369.3(DNAH5):c.12279+9G>A
|
|
|
NM_001369.3(DNAH5):c.12279+9G>T
|
|
|
NM_001369.3(DNAH5):c.12279C>T (p.Asn4093=)
|
|
|
NM_001369.3(DNAH5):c.12280-18G>A
|
|
|
NM_001369.3(DNAH5):c.12280-19C>T
|
|
|
NM_001369.3(DNAH5):c.12280-4A>G
|
rs1561106680
|
|
NM_001369.3(DNAH5):c.12280-4A>T
|
rs1561106680
|
|
NM_001369.3(DNAH5):c.12280-8A>G
|
|
|
NM_001369.3(DNAH5):c.12285A>G (p.Gly4095=)
|
|
|
NM_001369.3(DNAH5):c.1230C>A (p.Ala410=)
|
rs1449339755
|
|
NM_001369.3(DNAH5):c.12323T>C (p.Phe4108Ser)
|
|
|
NM_001369.3(DNAH5):c.12325A>G (p.Met4109Val)
|
|
|
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=)
|
|
|
NM_001369.3(DNAH5):c.12342C>T (p.Asp4114=)
|
rs980881291
|
|
NM_001369.3(DNAH5):c.12345A>C (p.Ile4115=)
|
|
|
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>T (p.Arg4127Cys)
|
rs148696723
|
|
NM_001369.3(DNAH5):c.12381C>T (p.Arg4127=)
|
|
|
NM_001369.3(DNAH5):c.12384C>T (p.Leu4128=)
|
rs772828833
|
|
NM_001369.3(DNAH5):c.12396C>G (p.Thr4132=)
|
|
|
NM_001369.3(DNAH5):c.12397G>A (p.Glu4133Lys)
|
|
|
NM_001369.3(DNAH5):c.12401_12402delinsTC (p.Ala4134Val)
|
|
|
NM_001369.3(DNAH5):c.12402T>G (p.Ala4134=)
|
rs1327666188
|
|
NM_001369.3(DNAH5):c.1241A>G (p.Asn414Ser)
|
|
|
NM_001369.3(DNAH5):c.1241A>T (p.Asn414Ile)
|
|
|
NM_001369.3(DNAH5):c.12420T>C (p.Ile4140=)
|
|
|
NM_001369.3(DNAH5):c.12454G>A (p.Asp4152Asn)
|
|
|
NM_001369.3(DNAH5):c.12462A>T (p.Pro4154=)
|
|
|
NM_001369.3(DNAH5):c.12468A>T (p.Gly4156=)
|
|
|
NM_001369.3(DNAH5):c.12480A>T (p.Gly4160=)
|
|
|
NM_001369.3(DNAH5):c.12492A>G (p.Thr4164=)
|
rs141935657
|
|
NM_001369.3(DNAH5):c.12495T>C (p.Tyr4165=)
|
|
|
NM_001369.3(DNAH5):c.12499+11_12499+23del
|
|
|
NM_001369.3(DNAH5):c.12499+12A>C
|
|
|
NM_001369.3(DNAH5):c.12499+16C>T
|
|
|
NM_001369.3(DNAH5):c.12499+20C>T
|
|
|
NM_001369.3(DNAH5):c.12499+7C>A
|
rs2126517434
|
|
NM_001369.3(DNAH5):c.12499+8C>T
|
|
|
NM_001369.3(DNAH5):c.12500-19A>G
|
|
|
NM_001369.3(DNAH5):c.12500-20C>T
|
|
|
NM_001369.3(DNAH5):c.12500-8C>T
|
rs2126510108
|
|
NM_001369.3(DNAH5):c.12500-9C>T
|
rs1744470683
|
|
NM_001369.3(DNAH5):c.12501T>C (p.Gly4167=)
|
|
|
NM_001369.3(DNAH5):c.12513C>A (p.Asp4171Glu)
|
rs547445590
|
|
NM_001369.3(DNAH5):c.12513C>T (p.Asp4171=)
|
rs547445590
|
|
NM_001369.3(DNAH5):c.12516G>T (p.Leu4172=)
|
|
|
NM_001369.3(DNAH5):c.12519G>A (p.Leu4173=)
|
rs2126509949
|
|
NM_001369.3(DNAH5):c.1252G>A (p.Ala418Thr)
|
|
|
NM_001369.3(DNAH5):c.12549C>A (p.Pro4183=)
|
rs2126509690
|
|
NM_001369.3(DNAH5):c.12555G>A (p.Leu4185=)
|
|
|
NM_001369.3(DNAH5):c.12559G>A (p.Ala4187Thr)
|
|
|
NM_001369.3(DNAH5):c.12561A>C (p.Ala4187=)
|
|
|
NM_001369.3(DNAH5):c.12561A>T (p.Ala4187=)
|
|
|
NM_001369.3(DNAH5):c.12573G>T (p.Leu4191=)
|
|
|
NM_001369.3(DNAH5):c.12576C>T (p.His4192=)
|
|
|
NM_001369.3(DNAH5):c.12579C>G (p.Ser4193=)
|
rs2126509340
|
|
NM_001369.3(DNAH5):c.1257C>T (p.Ser419=)
|
rs2151982228
|
|
NM_001369.3(DNAH5):c.12591G>A (p.Glu4197=)
|
rs2126509239
|
|
NM_001369.3(DNAH5):c.12600G>A (p.Lys4200=)
|
rs1744451695
|
|
NM_001369.3(DNAH5):c.12608C>T (p.Ala4203Val)
|
|
|
NM_001369.3(DNAH5):c.12609C>T (p.Ala4203=)
|
|
|
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.12644C>T (p.Ala4215Val)
|
|
|
NM_001369.3(DNAH5):c.12645G>A (p.Ala4215=)
|
|
|
NM_001369.3(DNAH5):c.12654T>C (p.Asn4218=)
|
|
|
NM_001369.3(DNAH5):c.12660T>C (p.Thr4220=)
|
rs2126508689
|
|
NM_001369.3(DNAH5):c.12685G>A (p.Asp4229Asn)
|
|
|
NM_001369.3(DNAH5):c.12690C>T (p.Asp4230=)
|
rs531483632
|
|
NM_001369.3(DNAH5):c.12705+11G>A
|
|
|
NM_001369.3(DNAH5):c.12705+11G>T
|
|
|
NM_001369.3(DNAH5):c.12705+13A>C
|
|
|
NM_001369.3(DNAH5):c.12705+13A>G
|
|
|
NM_001369.3(DNAH5):c.12705+15G>C
|
|
|
NM_001369.3(DNAH5):c.12705+16C>T
|
|
|
NM_001369.3(DNAH5):c.12705+20C>T
|
|
|
NM_001369.3(DNAH5):c.12705+7C>T
|
rs2126508365
|
|
NM_001369.3(DNAH5):c.12705+9G>A
|
rs990507266
|
|
NM_001369.3(DNAH5):c.12706-11A>C
|
|
|
NM_001369.3(DNAH5):c.12706-16C>T
|
|
|
NM_001369.3(DNAH5):c.12709G>A (p.Val4237Ile)
|
|
|
NM_001369.3(DNAH5):c.12709G>T (p.Val4237Phe)
|
rs138045391
|
|
NM_001369.3(DNAH5):c.12720C>T (p.Thr4240=)
|
rs756222017
|
|
NM_001369.3(DNAH5):c.12728G>A (p.Arg4243His)
|
|
|
NM_001369.3(DNAH5):c.1275G>A (p.Gln425=)
|
|
|
NM_001369.3(DNAH5):c.12765C>T (p.Val4255=)
|
rs561983296
|
|
NM_001369.3(DNAH5):c.12774C>T (p.Asp4258=)
|
rs199639743
|
|
NM_001369.3(DNAH5):c.12777T>C (p.Tyr4259=)
|
rs1358314506
|
|
NM_001369.3(DNAH5):c.12783G>A (p.Lys4261=)
|
|
|
NM_001369.3(DNAH5):c.1278T>C (p.Asp426=)
|
rs2151982189
|
|
NM_001369.3(DNAH5):c.12816C>T (p.Phe4272=)
|
rs2126503800
|
|
NM_001369.3(DNAH5):c.12827T>C (p.Met4276Thr)
|
|
|
NM_001369.3(DNAH5):c.12837A>G (p.Pro4279=)
|
rs1472495875
|
|
NM_001369.3(DNAH5):c.12876C>T (p.Cys4292=)
|
rs2126503530
|
|
NM_001369.3(DNAH5):c.12883G>A (p.Val4295Met)
|
|
|
NM_001369.3(DNAH5):c.12906C>T (p.Ile4302=)
|
|
|
NM_001369.3(DNAH5):c.12909+15G>A
|
|
|
NM_001369.3(DNAH5):c.12909+15G>T
|
|
|
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
|
|
|
NM_001369.3(DNAH5):c.12910-17G>A
|
|
|
NM_001369.3(DNAH5):c.12910-20C>G
|
|
|
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=)
|
|
|
NM_001369.3(DNAH5):c.12924T>C (p.Tyr4308=)
|
rs762978621
|
|
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=)
|
|
|
NM_001369.3(DNAH5):c.12972C>T (p.Tyr4324=)
|
rs1395775112
|
|
NM_001369.3(DNAH5):c.12975G>C (p.Gln4325His)
|
|
|
NM_001369.3(DNAH5):c.12987C>T (p.Ala4329=)
|
|
|
NM_001369.3(DNAH5):c.12990G>A (p.Lys4330=)
|
rs2126493433
|
|
NM_001369.3(DNAH5):c.12994G>A (p.Val4332Met)
|
|
|
NM_001369.3(DNAH5):c.12997C>T (p.Leu4333=)
|
|
|
NM_001369.3(DNAH5):c.1299A>G (p.Leu433=)
|
|
|
NM_001369.3(DNAH5):c.129T>C (p.Ile43=)
|
rs2152008893
|
|
NM_001369.3(DNAH5):c.13002C>T (p.Asp4334=)
|
|
|
NM_001369.3(DNAH5):c.13005C>A (p.Thr4335=)
|
|
|
NM_001369.3(DNAH5):c.13005C>G (p.Thr4335=)
|
rs755271975
|
|
NM_001369.3(DNAH5):c.13023C>G (p.Pro4341=)
|
rs762564245
|
|
NM_001369.3(DNAH5):c.13023C>T (p.Pro4341=)
|
rs762564245
|
|
NM_001369.3(DNAH5):c.13026G>A (p.Lys4342=)
|
|
|
NM_001369.3(DNAH5):c.13032C>A (p.Thr4344=)
|
|
|
NM_001369.3(DNAH5):c.13039G>A (p.Gly4347Arg)
|
|
|
NM_001369.3(DNAH5):c.13044G>A (p.Gly4348=)
|
|
|
NM_001369.3(DNAH5):c.13059G>A (p.Glu4353=)
|
rs2126492862
|
|
NM_001369.3(DNAH5):c.13060G>T (p.Ala4354Ser)
|
|
|
NM_001369.3(DNAH5):c.13061C>T (p.Ala4354Val)
|
|
|
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=)
|
|
|
NM_001369.3(DNAH5):c.13083T>C (p.Asp4361=)
|
|
|
NM_001369.3(DNAH5):c.13089G>T (p.Met4363Ile)
|
|
|
NM_001369.3(DNAH5):c.13090C>T (p.Leu4364=)
|
|
|
NM_001369.3(DNAH5):c.13095G>A (p.Glu4365=)
|
rs372604448
|
|
NM_001369.3(DNAH5):c.13113T>C (p.Tyr4371=)
|
rs539810401
|
|
NM_001369.3(DNAH5):c.13116C>T (p.Val4372=)
|
rs2126492309
|
|
NM_001369.3(DNAH5):c.13119C>G (p.Pro4373=)
|
|
|
NM_001369.3(DNAH5):c.13125+10T>C
|
|
|
NM_001369.3(DNAH5):c.13125+11G>A
|
|
|
NM_001369.3(DNAH5):c.13125+17C>T
|
|
|
NM_001369.3(DNAH5):c.13125+18T>C
|
|
|
NM_001369.3(DNAH5):c.13125+8G>A
|
rs1579871092
|
|
NM_001369.3(DNAH5):c.13125+8G>C
|
rs1579871092
|
|
NM_001369.3(DNAH5):c.13126-13G>A
|
|
|
NM_001369.3(DNAH5):c.13126-7A>G
|
|
|
NM_001369.3(DNAH5):c.1312C>T (p.Leu438=)
|
|
|
NM_001369.3(DNAH5):c.13134G>A (p.Glu4378=)
|
rs2126456591
|
|
NM_001369.3(DNAH5):c.13152G>A (p.Gly4384=)
|
rs2126456474
|
|
NM_001369.3(DNAH5):c.13152G>T (p.Gly4384=)
|
|
|
NM_001369.3(DNAH5):c.13164T>A (p.Pro4388=)
|
rs2126456298
|
|
NM_001369.3(DNAH5):c.13179C>T (p.Leu4393=)
|
|
|
NM_001369.3(DNAH5):c.13188A>G (p.Glu4396=)
|
|
|
NM_001369.3(DNAH5):c.1320+10A>G
|
rs369671081
|
|
NM_001369.3(DNAH5):c.1320+14T>C
|
|
|
NM_001369.3(DNAH5):c.1320+16G>A
|
|
|
NM_001369.3(DNAH5):c.1320+18A>G
|
|
|
NM_001369.3(DNAH5):c.1320+9C>T
|
|
|
NM_001369.3(DNAH5):c.1321-10T>C
|
|
|
NM_001369.3(DNAH5):c.1321-19T>C
|
|
|
NM_001369.3(DNAH5):c.1321-27_1321-11del
|
|
|
NM_001369.3(DNAH5):c.1321-8A>C
|
|
|
NM_001369.3(DNAH5):c.13221C>T (p.Val4407=)
|
|
|
NM_001369.3(DNAH5):c.13222C>G (p.Arg4408Gly)
|
|
|
NM_001369.3(DNAH5):c.13222C>T (p.Arg4408Cys)
|
rs150046963
|
|
NM_001369.3(DNAH5):c.13223G>A (p.Arg4408His)
|
|
|
NM_001369.3(DNAH5):c.13229C>G (p.Thr4410Ser)
|
|
|
NM_001369.3(DNAH5):c.13230C>A (p.Thr4410=)
|
rs1743047461
|
|
NM_001369.3(DNAH5):c.13233C>T (p.Leu4411=)
|
rs2126455723
|
|
NM_001369.3(DNAH5):c.13254T>C (p.Ile4418=)
|
rs2126455593
|
|
NM_001369.3(DNAH5):c.13260C>T (p.Gly4420=)
|
|
|
NM_001369.3(DNAH5):c.13266C>T (p.Ile4422=)
|
|
|
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.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.13338+13C>A
|
|
|
NM_001369.3(DNAH5):c.13338+18G>A
|
|
|
NM_001369.3(DNAH5):c.13338+18G>T
|
|
|
NM_001369.3(DNAH5):c.13339-16A>G
|
|
|
NM_001369.3(DNAH5):c.13339-16A>T
|
|
|
NM_001369.3(DNAH5):c.13339-18T>C
|
|
|
NM_001369.3(DNAH5):c.13339-5T>C
|
|
|
NM_001369.3(DNAH5):c.13344T>A (p.Ser4448=)
|
rs2126410484
|
|
NM_001369.3(DNAH5):c.13362G>T (p.Leu4454=)
|
rs2126410290
|
|
NM_001369.3(DNAH5):c.13364G>T (p.Gly4455Val)
|
|
|
NM_001369.3(DNAH5):c.13377T>C (p.Thr4459=)
|
rs2126410152
|
|
NM_001369.3(DNAH5):c.13385T>C (p.Ile4462Thr)
|
|
|
NM_001369.3(DNAH5):c.13388A>G (p.Glu4463Gly)
|
|
|
NM_001369.3(DNAH5):c.13398C>T (p.Ser4466=)
|
|
|
NM_001369.3(DNAH5):c.13407C>A (p.Thr4469=)
|
|
|
NM_001369.3(DNAH5):c.13410G>C (p.Ser4470=)
|
rs368920785
|
|
NM_001369.3(DNAH5):c.1341C>T (p.His447=)
|
rs886060014
|
|
NM_001369.3(DNAH5):c.13444A>T (p.Met4482Leu)
|
|
|
NM_001369.3(DNAH5):c.13449G>C (p.Thr4483=)
|
|
|
NM_001369.3(DNAH5):c.13452T>A (p.Gly4484=)
|
rs758092290
|
|
NM_001369.3(DNAH5):c.13452T>C (p.Gly4484=)
|
|
|
NM_001369.3(DNAH5):c.13452T>G (p.Gly4484=)
|
|
|
NM_001369.3(DNAH5):c.13461C>T (p.Asn4487=)
|
rs572989128
|
|
NM_001369.3(DNAH5):c.13462C>T (p.Pro4488Ser)
|
|
|
NM_001369.3(DNAH5):c.13470A>T (p.Gly4490=)
|
|
|
NM_001369.3(DNAH5):c.13482A>C (p.Ala4494=)
|
|
|
NM_001369.3(DNAH5):c.13485G>A (p.Met4495Ile)
|
|
|
NM_001369.3(DNAH5):c.13486C>A (p.Arg4496=)
|
rs200901816
|
|
NM_001369.3(DNAH5):c.13487G>A (p.Arg4496Gln)
|
|
|
NM_001369.3(DNAH5):c.13491+15T>C
|
|
|
NM_001369.3(DNAH5):c.13491+7G>A
|
rs1579809056
|
|
NM_001369.3(DNAH5):c.13491+8C>A
|
|
|
NM_001369.3(DNAH5):c.13491+9T>A
|
|
|
NM_001369.3(DNAH5):c.13492-10C>T
|
rs2126405922
|
|
NM_001369.3(DNAH5):c.13492-6G>C
|
rs1742012164
|
|
NM_001369.3(DNAH5):c.13492-9C>G
|
|
|
NM_001369.3(DNAH5):c.13492-9C>T
|
|
|
NM_001369.3(DNAH5):c.13497A>G (p.Ile4499Met)
|
|
|
NM_001369.3(DNAH5):c.13506C>G (p.Ala4502=)
|
|
|
NM_001369.3(DNAH5):c.13506C>T (p.Ala4502=)
|
rs2126405614
|
|
NM_001369.3(DNAH5):c.13508A>G (p.Asn4503Ser)
|
|
|
NM_001369.3(DNAH5):c.1351C>A (p.Gln451Lys)
|
|
|
NM_001369.3(DNAH5):c.13527C>T (p.Asp4509=)
|
|
|
NM_001369.3(DNAH5):c.13548A>G (p.Glu4516=)
|
rs1742000009
|
|
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)
|
|
|
NM_001369.3(DNAH5):c.13605C>T (p.Val4535=)
|
rs1211208126
|
|
NM_001369.3(DNAH5):c.13608T>C (p.Tyr4536=)
|
|
|
NM_001369.3(DNAH5):c.13611C>G (p.Gly4537=)
|
rs1306261256
|
|
NM_001369.3(DNAH5):c.13611C>T (p.Gly4537=)
|
|
|
NM_001369.3(DNAH5):c.13625G>C (p.Gly4542Ala)
|
|
|
NM_001369.3(DNAH5):c.13632C>T (p.Gly4544=)
|
|
|
NM_001369.3(DNAH5):c.13656C>A (p.Leu4552=)
|
rs1561071962
|
|
NM_001369.3(DNAH5):c.13675G>T (p.Val4559Leu)
|
|
|
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.13696G>C (p.Val4566Leu)
|
rs200891691
|
|
NM_001369.3(DNAH5):c.13697T>C (p.Val4566Ala)
|
|
|
NM_001369.3(DNAH5):c.13701A>C (p.Ile4567=)
|
|
|
NM_001369.3(DNAH5):c.13704G>A (p.Arg4568=)
|
|
|
NM_001369.3(DNAH5):c.13704G>C (p.Arg4568Ser)
|
|
|
NM_001369.3(DNAH5):c.13713A>G (p.Ala4571=)
|
|
|
NM_001369.3(DNAH5):c.13718A>G (p.Asn4573Ser)
|
|
|
NM_001369.3(DNAH5):c.13723+11T>C
|
|
|
NM_001369.3(DNAH5):c.13723+15A>G
|
|
|
NM_001369.3(DNAH5):c.13724-10T>C
|
|
|
NM_001369.3(DNAH5):c.13724-11G>T
|
|
|
NM_001369.3(DNAH5):c.13724-12T>C
|
|
|
NM_001369.3(DNAH5):c.13724-13A>G
|
|
|
NM_001369.3(DNAH5):c.13724-13A>T
|
|
|
NM_001369.3(DNAH5):c.13724-18_13724-14del
|
|
|
NM_001369.3(DNAH5):c.13724-19T>C
|
|
|
NM_001369.3(DNAH5):c.13724-4G>A
|
|
|
NM_001369.3(DNAH5):c.13738C>T (p.Arg4580Trp)
|
|
|
NM_001369.3(DNAH5):c.13740G>A (p.Arg4580=)
|
|
|
NM_001369.3(DNAH5):c.13749C>G (p.Ser4583=)
|
rs1452713574
|
|
NM_001369.3(DNAH5):c.13749C>T (p.Ser4583=)
|
|
|
NM_001369.3(DNAH5):c.13773T>G (p.Val4591=)
|
rs1479332924
|
|
NM_001369.3(DNAH5):c.13774C>A (p.Arg4592=)
|
|
|
NM_001369.3(DNAH5):c.13779G>C (p.Thr4593=)
|
rs200555581
|
|
NM_001369.3(DNAH5):c.13791C>T (p.Tyr4597=)
|
|
|
NM_001369.3(DNAH5):c.13797C>T (p.Ala4599=)
|
rs375643128
|
|
NM_001369.3(DNAH5):c.13798G>T (p.Ala4600Ser)
|
|
|
NM_001369.3(DNAH5):c.13804G>T (p.Asp4602Tyr)
|
|
|
NM_001369.3(DNAH5):c.13807C>T (p.Leu4603Phe)
|
|
|
NM_001369.3(DNAH5):c.13817C>A (p.Ala4606Asp)
|
rs770244453
|
|
NM_001369.3(DNAH5):c.13839G>A (p.Val4613=)
|
|
|
NM_001369.3(DNAH5):c.13863T>C (p.Cys4621=)
|
|
|
NM_001369.3(DNAH5):c.13869C>G (p.Val4623=)
|
|
|
NM_001369.3(DNAH5):c.138C>T (p.Ser46=)
|
rs561555495
|
|
NM_001369.3(DNAH5):c.1417T>C (p.Phe473Leu)
|
|
|
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.1458C>T (p.Ile486=)
|
rs2151980986
|
|
NM_001369.3(DNAH5):c.1464A>G (p.Thr488=)
|
rs2151980971
|
|
NM_001369.3(DNAH5):c.1475C>A (p.Thr492Lys)
|
rs189145014
|
|
NM_001369.3(DNAH5):c.147C>T (p.Asp49=)
|
|
|
NM_001369.3(DNAH5):c.1482A>C (p.Ser494=)
|
|
|
NM_001369.3(DNAH5):c.1485C>G (p.Val495=)
|
rs2151980913
|
|
NM_001369.3(DNAH5):c.1486C>T (p.Leu496=)
|
|
|
NM_001369.3(DNAH5):c.1497C>T (p.Ser499=)
|
|
|
NM_001369.3(DNAH5):c.1509G>A (p.Gly503=)
|
rs745901461
|
|
NM_001369.3(DNAH5):c.1515A>G (p.Glu505=)
|
|
|
NM_001369.3(DNAH5):c.1518C>A (p.Asp506Glu)
|
|
|
NM_001369.3(DNAH5):c.1524C>A (p.Ala508=)
|
|
|
NM_001369.3(DNAH5):c.1524C>G (p.Ala508=)
|
rs2151980816
|
|
NM_001369.3(DNAH5):c.1536+11_1536+18del
|
|
|
NM_001369.3(DNAH5):c.1536+14A>C
|
|
|
NM_001369.3(DNAH5):c.1536+17C>T
|
|
|
NM_001369.3(DNAH5):c.1536+18T>A
|
|
|
NM_001369.3(DNAH5):c.1536+19A>G
|
|
|
NM_001369.3(DNAH5):c.1536+7T>C
|
|
|
NM_001369.3(DNAH5):c.1537-12A>G
|
|
|
NM_001369.3(DNAH5):c.1537-12dup
|
|
|
NM_001369.3(DNAH5):c.1537-14T>C
|
|
|
NM_001369.3(DNAH5):c.1537-20T>C
|
|
|
NM_001369.3(DNAH5):c.1539C>A (p.Gly513=)
|
rs778297786
|
|
NM_001369.3(DNAH5):c.1539C>T (p.Gly513=)
|
|
|
NM_001369.3(DNAH5):c.1547C>T (p.Ala516Val)
|
|
|
NM_001369.3(DNAH5):c.1551C>T (p.Thr517=)
|
rs1775987355
|
|
NM_001369.3(DNAH5):c.1578A>G (p.Leu526=)
|
rs1775984639
|
|
NM_001369.3(DNAH5):c.1581C>T (p.Asp527=)
|
|
|
NM_001369.3(DNAH5):c.1585C>G (p.Arg529Gly)
|
|
|
NM_001369.3(DNAH5):c.1585C>T (p.Arg529Trp)
|
rs200452908
|
|
NM_001369.3(DNAH5):c.1586G>A (p.Arg529Gln)
|
|
|
NM_001369.3(DNAH5):c.1593G>A (p.Met531Ile)
|
|
|
NM_001369.3(DNAH5):c.159C>A (p.Thr53=)
|
|
|
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.1616A>C (p.Glu539Ala)
|
|
|
NM_001369.3(DNAH5):c.1626G>A (p.Lys542=)
|
rs2151977672
|
|
NM_001369.3(DNAH5):c.1638C>T (p.Asp546=)
|
rs375037194
|
|
NM_001369.3(DNAH5):c.1641T>C (p.Leu547=)
|
rs751970542
|
|
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
|
|
|
NM_001369.3(DNAH5):c.1644+8G>A
|
rs2151977626
|
|
NM_001369.3(DNAH5):c.1644+9T>G
|
|
|
NM_001369.3(DNAH5):c.1645-20C>G
|
|
|
NM_001369.3(DNAH5):c.1647C>T (p.Asn549=)
|
rs139160176
|
|
NM_001369.3(DNAH5):c.1654C>T (p.Arg552Trp)
|
|
|
NM_001369.3(DNAH5):c.1656G>A (p.Arg552=)
|
|
|
NM_001369.3(DNAH5):c.165G>A (p.Val55=)
|
|
|
NM_001369.3(DNAH5):c.1662C>T (p.Phe554=)
|
rs2151964133
|
|
NM_001369.3(DNAH5):c.1664T>C (p.Met555Thr)
|
|
|
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.1692C>T (p.Asn564=)
|
|
|
NM_001369.3(DNAH5):c.1693A>G (p.Thr565Ala)
|
|
|
NM_001369.3(DNAH5):c.1717A>C (p.Lys573Gln)
|
|
|
NM_001369.3(DNAH5):c.172G>A (p.Ala58Thr)
|
|
|
NM_001369.3(DNAH5):c.1730+11C>T
|
|
|
NM_001369.3(DNAH5):c.1730+18T>A
|
|
|
NM_001369.3(DNAH5):c.1730+19T>G
|
|
|
NM_001369.3(DNAH5):c.1730+20G>T
|
|
|
NM_001369.3(DNAH5):c.1731-11A>G
|
|
|
NM_001369.3(DNAH5):c.1731-11A>T
|
rs544581376
|
|
NM_001369.3(DNAH5):c.1731-15T>C
|
|
|
NM_001369.3(DNAH5):c.1731-17C>T
|
|
|
NM_001369.3(DNAH5):c.173C>A (p.Ala58Asp)
|
|
|
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=)
|
|
|
NM_001369.3(DNAH5):c.1788T>C (p.Tyr596=)
|
|
|
NM_001369.3(DNAH5):c.1798A>G (p.Ile600Val)
|
|
|
NM_001369.3(DNAH5):c.1818G>C (p.Leu606=)
|
|
|
NM_001369.3(DNAH5):c.1842T>G (p.Pro614=)
|
rs2151963173
|
|
NM_001369.3(DNAH5):c.1855A>G (p.Asn619Asp)
|
|
|
NM_001369.3(DNAH5):c.1860G>A (p.Gln620=)
|
|
|
NM_001369.3(DNAH5):c.1872T>G (p.Ala624=)
|
|
|
NM_001369.3(DNAH5):c.1875A>C (p.Gly625=)
|
rs760104411
|
|
NM_001369.3(DNAH5):c.1875A>G (p.Gly625=)
|
|
|
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=)
|
|
|
NM_001369.3(DNAH5):c.1896G>A (p.Gln632=)
|
rs746476934
|
|
NM_001369.3(DNAH5):c.1899C>T (p.Leu633=)
|
|
|
NM_001369.3(DNAH5):c.1902C>T (p.Phe634=)
|
|
|
NM_001369.3(DNAH5):c.1914G>A (p.Gln638=)
|
rs2151962998
|
|
NM_001369.3(DNAH5):c.192+11T>C
|
|
|
NM_001369.3(DNAH5):c.192+7T>C
|
|
|
NM_001369.3(DNAH5):c.192+7del
|
rs2152008748
|
|
NM_001369.3(DNAH5):c.192+9C>A
|
rs200327229
|
|
NM_001369.3(DNAH5):c.193-10T>C
|
rs2152004353
|
|
NM_001369.3(DNAH5):c.193-13T>C
|
|
|
NM_001369.3(DNAH5):c.193-15T>A
|
|
|
NM_001369.3(DNAH5):c.193-16T>C
|
|
|
NM_001369.3(DNAH5):c.193-6T>A
|
|
|
NM_001369.3(DNAH5):c.1944A>G (p.Pro648=)
|
|
|
NM_001369.3(DNAH5):c.1947T>C (p.Ala649=)
|
|
|
NM_001369.3(DNAH5):c.1948G>A (p.Val650Met)
|
|
|
NM_001369.3(DNAH5):c.1950G>C (p.Val650=)
|
rs2151962940
|
|
NM_001369.3(DNAH5):c.1951C>T (p.Leu651=)
|
|
|
NM_001369.3(DNAH5):c.195T>C (p.Ile65=)
|
rs1051883352
|
|
NM_001369.3(DNAH5):c.1974T>C (p.Pro658=)
|
|
|
NM_001369.3(DNAH5):c.1975A>G (p.Ile659Val)
|
|
|
NM_001369.3(DNAH5):c.1981C>T (p.Arg661Cys)
|
|
|
NM_001369.3(DNAH5):c.1992C>T (p.Asn664=)
|
|
|
NM_001369.3(DNAH5):c.2001C>T (p.Ala667=)
|
rs1774581519
|
|
NM_001369.3(DNAH5):c.2007C>T (p.Val669=)
|
|
|
NM_001369.3(DNAH5):c.200G>T (p.Arg67Ile)
|
|
|
NM_001369.3(DNAH5):c.2022G>C (p.Glu674Asp)
|
|
|
NM_001369.3(DNAH5):c.2025C>G (p.Val675=)
|
|
|
NM_001369.3(DNAH5):c.2034C>T (p.His678=)
|
rs1425718994
|
|
NM_001369.3(DNAH5):c.2035A>G (p.Arg679Gly)
|
|
|
NM_001369.3(DNAH5):c.2047C>A (p.Arg683=)
|
rs182512638
|
|
NM_001369.3(DNAH5):c.204T>C (p.Ile68=)
|
|
|
NM_001369.3(DNAH5):c.2052+15T>C
|
|
|
NM_001369.3(DNAH5):c.2052+19A>C
|
|
|
NM_001369.3(DNAH5):c.2052+8C>A
|
|
|
NM_001369.3(DNAH5):c.2052+9C>T
|
rs2151962696
|
|
NM_001369.3(DNAH5):c.2053-16del
|
rs2151961502
|
|
NM_001369.3(DNAH5):c.2053-20A>T
|
|
|
NM_001369.3(DNAH5):c.2053-9T>C
|
|
|
NM_001369.3(DNAH5):c.2070A>T (p.Val690=)
|
rs2151961452
|
|
NM_001369.3(DNAH5):c.2076T>C (p.Leu692=)
|
|
|
NM_001369.3(DNAH5):c.2077G>C (p.Glu693Gln)
|
|
|
NM_001369.3(DNAH5):c.207T>C (p.Asp69=)
|
rs777266031
|
|
NM_001369.3(DNAH5):c.2082T>C (p.Ala694=)
|
|
|
NM_001369.3(DNAH5):c.2085A>G (p.Ser695=)
|
rs762493873
|
|
NM_001369.3(DNAH5):c.2094G>A (p.Val698=)
|
rs769746319
|
|
NM_001369.3(DNAH5):c.2101C>T (p.Pro701Ser)
|
|
|
NM_001369.3(DNAH5):c.2103A>G (p.Pro701=)
|
rs1287386869
|
|
NM_001369.3(DNAH5):c.2112G>A (p.Gly704=)
|
|
|
NM_001369.3(DNAH5):c.2115A>G (p.Glu705=)
|
|
|
NM_001369.3(DNAH5):c.2118G>A (p.Leu706=)
|
rs766984347
|
|
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.2152T>C (p.Phe718Leu)
|
|
|
NM_001369.3(DNAH5):c.2175C>A (p.Ala725=)
|
|
|
NM_001369.3(DNAH5):c.2193C>T (p.Val731=)
|
rs766072810
|
|
NM_001369.3(DNAH5):c.2196T>C (p.Ser732=)
|
|
|
NM_001369.3(DNAH5):c.2199A>G (p.Pro733=)
|
|
|
NM_001369.3(DNAH5):c.2205A>T (p.Ala735=)
|
rs1184076427
|
|
NM_001369.3(DNAH5):c.2211C>G (p.Ser737=)
|
|
|
NM_001369.3(DNAH5):c.2211C>T (p.Ser737=)
|
rs878854455
|
|
NM_001369.3(DNAH5):c.2223A>G (p.Lys741=)
|
|
|
NM_001369.3(DNAH5):c.2225G>A (p.Arg742Gln)
|
|
|
NM_001369.3(DNAH5):c.2232A>G (p.Arg744=)
|
|
|
NM_001369.3(DNAH5):c.2259+12T>C
|
|
|
NM_001369.3(DNAH5):c.2259+14A>G
|
|
|
NM_001369.3(DNAH5):c.2259+14A>T
|
|
|
NM_001369.3(DNAH5):c.2259+16T>G
|
|
|
NM_001369.3(DNAH5):c.2259+20T>C
|
|
|
NM_001369.3(DNAH5):c.2259+9C>G
|
rs2151960990
|
|
NM_001369.3(DNAH5):c.2260-19A>C
|
|
|
NM_001369.3(DNAH5):c.2260-7A>T
|
rs530639771
|
|
NM_001369.3(DNAH5):c.2268A>G (p.Leu756=)
|
|
|
NM_001369.3(DNAH5):c.2277T>C (p.Tyr759=)
|
|
|
NM_001369.3(DNAH5):c.2286G>A (p.Val762=)
|
rs759849155
|
|
NM_001369.3(DNAH5):c.2292A>G (p.Ser764=)
|
rs2151953631
|
|
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.2325C>T (p.Val775=)
|
|
|
NM_001369.3(DNAH5):c.2337C>T (p.Ala779=)
|
|
|
NM_001369.3(DNAH5):c.233G>A (p.Arg78Gln)
|
|
|
NM_001369.3(DNAH5):c.2345A>G (p.Asp782Gly)
|
|
|
NM_001369.3(DNAH5):c.234A>G (p.Arg78=)
|
|
|
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)
|
|
|
NM_001369.3(DNAH5):c.2373A>T (p.Ala791=)
|
|
|
NM_001369.3(DNAH5):c.2379C>T (p.Thr793=)
|
|
|
NM_001369.3(DNAH5):c.2385A>T (p.Thr795=)
|
|
|
NM_001369.3(DNAH5):c.2389C>T (p.Leu797=)
|
|
|
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.2409A>G (p.Leu803=)
|
|
|
NM_001369.3(DNAH5):c.2415C>T (p.Asn805=)
|
|
|
NM_001369.3(DNAH5):c.2416A>G (p.Thr806Ala)
|
|
|
NM_001369.3(DNAH5):c.2425A>G (p.Lys809Glu)
|
|
|
NM_001369.3(DNAH5):c.2431+9G>C
|
rs1773679921
|
|
NM_001369.3(DNAH5):c.2432-15T>C
|
|
|
NM_001369.3(DNAH5):c.2432-16T>C
|
|
|
NM_001369.3(DNAH5):c.2432-18T>C
|
|
|
NM_001369.3(DNAH5):c.2432-4A>G
|
|
|
NM_001369.3(DNAH5):c.2432-5C>T
|
|
|
NM_001369.3(DNAH5):c.2432-8T>C
|
rs2151949069
|
|
NM_001369.3(DNAH5):c.2448G>A (p.Leu816=)
|
|
|
NM_001369.3(DNAH5):c.2453A>G (p.Asp818Gly)
|
|
|
NM_001369.3(DNAH5):c.2456G>C (p.Arg819Thr)
|
|
|
NM_001369.3(DNAH5):c.2457G>A (p.Arg819=)
|
|
|
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=)
|
|
|
NM_001369.3(DNAH5):c.2490C>T (p.Ala830=)
|
|
|
NM_001369.3(DNAH5):c.2493T>C (p.Ile831=)
|
|
|
NM_001369.3(DNAH5):c.249C>T (p.Tyr83=)
|
rs747750664
|
|
NM_001369.3(DNAH5):c.2502A>C (p.Glu834Asp)
|
|
|
NM_001369.3(DNAH5):c.250T>C (p.Tyr84His)
|
|
|
NM_001369.3(DNAH5):c.2514G>T (p.Thr838=)
|
|
|
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.2541G>A (p.Glu847=)
|
rs1488661269
|
|
NM_001369.3(DNAH5):c.2545C>T (p.Leu849=)
|
rs1773146294
|
|
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+11C>A
|
|
|
NM_001369.3(DNAH5):c.2577+12C>A
|
|
|
NM_001369.3(DNAH5):c.2577+16A>G
|
|
|
NM_001369.3(DNAH5):c.2577+17T>A
|
|
|
NM_001369.3(DNAH5):c.2577+17T>C
|
|
|
NM_001369.3(DNAH5):c.2578-11T>G
|
|
|
NM_001369.3(DNAH5):c.2578-18T>C
|
|
|
NM_001369.3(DNAH5):c.2578-20_2578-19insG
|
|
|
NM_001369.3(DNAH5):c.2578-5G>C
|
rs76559205
|
|
NM_001369.3(DNAH5):c.2578-6G>T
|
rs1303708125
|
|
NM_001369.3(DNAH5):c.2578-6_2578-4del
|
rs1453545341
|
|
NM_001369.3(DNAH5):c.2598A>G (p.Ala866=)
|
|
|
NM_001369.3(DNAH5):c.2609A>G (p.His870Arg)
|
|
|
NM_001369.3(DNAH5):c.2623T>C (p.Leu875=)
|
rs2151943082
|
|
NM_001369.3(DNAH5):c.2640C>G (p.Val880=)
|
|
|
NM_001369.3(DNAH5):c.2640C>T (p.Val880=)
|
|
|
NM_001369.3(DNAH5):c.264G>A (p.Glu88=)
|
|
|
NM_001369.3(DNAH5):c.2659T>C (p.Leu887=)
|
|
|
NM_001369.3(DNAH5):c.2673A>G (p.Glu891=)
|
rs1772380664
|
|
NM_001369.3(DNAH5):c.2677T>C (p.Leu893=)
|
|
|
NM_001369.3(DNAH5):c.2694T>C (p.Ser898=)
|
|
|
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.2715T>C (p.Asn905=)
|
rs2151942937
|
|
NM_001369.3(DNAH5):c.2718T>C (p.Ser906=)
|
rs2151942929
|
|
NM_001369.3(DNAH5):c.2732A>G (p.Asn911Ser)
|
|
|
NM_001369.3(DNAH5):c.2735A>T (p.Glu912Val)
|
|
|
NM_001369.3(DNAH5):c.2739T>C (p.Ser913=)
|
rs2151942892
|
|
NM_001369.3(DNAH5):c.2743+10G>A
|
|
|
NM_001369.3(DNAH5):c.2743+12G>A
|
rs1380292180
|
|
NM_001369.3(DNAH5):c.2743+12G>T
|
|
|
NM_001369.3(DNAH5):c.2743+13G>A
|
|
|
NM_001369.3(DNAH5):c.2743+14T>C
|
|
|
NM_001369.3(DNAH5):c.2743+5GA[3]
|
|
|
NM_001369.3(DNAH5):c.2743+7G>T
|
rs2151942878
|
|
NM_001369.3(DNAH5):c.2743+8A>T
|
|
|
NM_001369.3(DNAH5):c.2743+9T>C
|
|
|
NM_001369.3(DNAH5):c.2744-10C>A
|
rs1772234629
|
|
NM_001369.3(DNAH5):c.2744-20T>C
|
|
|
NM_001369.3(DNAH5):c.2744-33ATCTCT[2]
|
|
|
NM_001369.3(DNAH5):c.2744-5A>T
|
|
|
NM_001369.3(DNAH5):c.2744-6T>C
|
rs1580740899
|
|
NM_001369.3(DNAH5):c.2745A>G (p.Ala915=)
|
rs750846850
|
|
NM_001369.3(DNAH5):c.277+12T>C
|
|
|
NM_001369.3(DNAH5):c.277+20C>T
|
|
|
NM_001369.3(DNAH5):c.2779T>C (p.Ser927Pro)
|
|
|
NM_001369.3(DNAH5):c.278-14T>C
|
|
|
NM_001369.3(DNAH5):c.278-15A>G
|
|
|
NM_001369.3(DNAH5):c.278-4G>A
|
|
|
NM_001369.3(DNAH5):c.278-9C>G
|
rs2151997384
|
|
NM_001369.3(DNAH5):c.2781A>G (p.Ser927=)
|
|
|
NM_001369.3(DNAH5):c.2793C>T (p.Ala931=)
|
|
|
NM_001369.3(DNAH5):c.2806C>T (p.Leu936=)
|
rs2151941762
|
|
NM_001369.3(DNAH5):c.2808G>A (p.Leu936=)
|
|
|
NM_001369.3(DNAH5):c.2814G>A (p.Leu938=)
|
|
|
NM_001369.3(DNAH5):c.2817G>A (p.Thr939=)
|
|
|
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>A (p.Val941=)
|
|
|
NM_001369.3(DNAH5):c.2823C>G (p.Val941=)
|
rs757208843
|
|
NM_001369.3(DNAH5):c.2825C>T (p.Thr942Met)
|
|
|
NM_001369.3(DNAH5):c.2826G>A (p.Thr942=)
|
|
|
NM_001369.3(DNAH5):c.2826G>T (p.Thr942=)
|
rs768837837
|
|
NM_001369.3(DNAH5):c.2844T>C (p.Thr948=)
|
rs2151941677
|
|
NM_001369.3(DNAH5):c.2856G>A (p.Gly952=)
|
|
|
NM_001369.3(DNAH5):c.2863G>A (p.Ala955Thr)
|
|
|
NM_001369.3(DNAH5):c.2866C>T (p.Arg956Cys)
|
|
|
NM_001369.3(DNAH5):c.2867G>A (p.Arg956His)
|
rs752260329
|
|
NM_001369.3(DNAH5):c.2868C>T (p.Arg956=)
|
|
|
NM_001369.3(DNAH5):c.2877C>T (p.Leu959=)
|
|
|
NM_001369.3(DNAH5):c.2880T>A (p.Ser960=)
|
|
|
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=)
|
|
|
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.2901G>A (p.Met967Ile)
|
|
|
NM_001369.3(DNAH5):c.2907T>G (p.Ala969=)
|
|
|
NM_001369.3(DNAH5):c.2914A>C (p.Lys972Gln)
|
|
|
NM_001369.3(DNAH5):c.2924G>A (p.Arg975Lys)
|
|
|
NM_001369.3(DNAH5):c.2925G>A (p.Arg975=)
|
rs2151941486
|
|
NM_001369.3(DNAH5):c.2931A>G (p.Thr977=)
|
|
|
NM_001369.3(DNAH5):c.2931A>T (p.Thr977=)
|
|
|
NM_001369.3(DNAH5):c.2932C>G (p.Leu978Val)
|
|
|
NM_001369.3(DNAH5):c.2941A>G (p.Ile981Val)
|
|
|
NM_001369.3(DNAH5):c.2945G>A (p.Arg982His)
|
|
|
NM_001369.3(DNAH5):c.294A>T (p.Leu98=)
|
rs1458038548
|
|
NM_001369.3(DNAH5):c.2950C>T (p.Arg984Cys)
|
|
|
NM_001369.3(DNAH5):c.2961C>T (p.Ser987=)
|
|
|
NM_001369.3(DNAH5):c.2970A>G (p.Thr990=)
|
rs2151941432
|
|
NM_001369.3(DNAH5):c.2980C>T (p.Arg994Trp)
|
|
|
NM_001369.3(DNAH5):c.2983+12G>T
|
|
|
NM_001369.3(DNAH5):c.2983+14G>A
|
|
|
NM_001369.3(DNAH5):c.2984-12G>C
|
|
|
NM_001369.3(DNAH5):c.2984-20C>T
|
|
|
NM_001369.3(DNAH5):c.2984-20del
|
|
|
NM_001369.3(DNAH5):c.2984-5C>T
|
rs1350219806
|
|
NM_001369.3(DNAH5):c.2984-6A>C
|
rs2151938834
|
|
NM_001369.3(DNAH5):c.298G>A (p.Gly100Arg)
|
|
|
NM_001369.3(DNAH5):c.2991C>T (p.Asn997=)
|
|
|
NM_001369.3(DNAH5):c.2994T>C (p.Ser998=)
|
|
|
NM_001369.3(DNAH5):c.2997C>T (p.Ala999=)
|
rs760587023
|
|
NM_001369.3(DNAH5):c.3009G>A (p.Lys1003=)
|
|
|
NM_001369.3(DNAH5):c.300G>T (p.Gly100=)
|
|
|
NM_001369.3(DNAH5):c.3016A>C (p.Ser1006Arg)
|
|
|
NM_001369.3(DNAH5):c.3036A>C (p.Ala1012=)
|
|
|
NM_001369.3(DNAH5):c.303A>G (p.Val101=)
|
|
|
NM_001369.3(DNAH5):c.3051C>T (p.Ala1017=)
|
|
|
NM_001369.3(DNAH5):c.3057C>G (p.Pro1019=)
|
rs2151938636
|
|
NM_001369.3(DNAH5):c.3060C>T (p.Asn1020=)
|
|
|
NM_001369.3(DNAH5):c.3090A>G (p.Val1030=)
|
rs1771887319
|
|
NM_001369.3(DNAH5):c.3098C>A (p.Thr1033Asn)
|
|
|
NM_001369.3(DNAH5):c.3120C>T (p.Cys1040=)
|
rs2151938511
|
|
NM_001369.3(DNAH5):c.3126C>T (p.Ile1042=)
|
|
|
NM_001369.3(DNAH5):c.3129T>C (p.Ser1043=)
|
rs2151938486
|
|
NM_001369.3(DNAH5):c.3141G>A (p.Gly1047=)
|
|
|
NM_001369.3(DNAH5):c.3142G>A (p.Val1048Ile)
|
|
|
NM_001369.3(DNAH5):c.3147A>G (p.Arg1049=)
|
rs1210584346
|
|
NM_001369.3(DNAH5):c.3162A>G (p.Glu1054=)
|
|
|
NM_001369.3(DNAH5):c.3174+10G>C
|
rs749250823
|
|
NM_001369.3(DNAH5):c.3174+14G>A
|
|
|
NM_001369.3(DNAH5):c.3174+16A>G
|
|
|
NM_001369.3(DNAH5):c.3174+7A>G
|
rs1457339631
|
|
NM_001369.3(DNAH5):c.3175-14C>T
|
|
|
NM_001369.3(DNAH5):c.3175-9A>G
|
rs2151938218
|
|
NM_001369.3(DNAH5):c.3189A>C (p.Glu1063Asp)
|
|
|
NM_001369.3(DNAH5):c.3200C>T (p.Ala1067Val)
|
|
|
NM_001369.3(DNAH5):c.3210G>C (p.Gln1070His)
|
|
|
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.3234T>C (p.Asp1078=)
|
rs2151938106
|
|
NM_001369.3(DNAH5):c.3248A>T (p.Glu1083Val)
|
|
|
NM_001369.3(DNAH5):c.3262+10C>A
|
rs1303999221
|
|
NM_001369.3(DNAH5):c.3262+10C>G
|
|
|
NM_001369.3(DNAH5):c.3262+13T>A
|
|
|
NM_001369.3(DNAH5):c.3262+20T>G
|
|
|
NM_001369.3(DNAH5):c.3263-13T>G
|
|
|
NM_001369.3(DNAH5):c.3263-19_3263-15del
|
|
|
NM_001369.3(DNAH5):c.3263-4T>C
|
|
|
NM_001369.3(DNAH5):c.3263-7T>C
|
|
|
NM_001369.3(DNAH5):c.3263-7T>G
|
rs1442983174
|
|
NM_001369.3(DNAH5):c.3267C>G (p.Thr1089=)
|
rs2151929227
|
|
NM_001369.3(DNAH5):c.3276A>C (p.Ile1092=)
|
|
|
NM_001369.3(DNAH5):c.3277G>A (p.Ala1093Thr)
|
|
|
NM_001369.3(DNAH5):c.3279A>C (p.Ala1093=)
|
|
|
NM_001369.3(DNAH5):c.3279A>G (p.Ala1093=)
|
rs764928831
|
|
NM_001369.3(DNAH5):c.3285A>C (p.Val1095=)
|
|
|
NM_001369.3(DNAH5):c.3291A>G (p.Leu1097=)
|
|
|
NM_001369.3(DNAH5):c.3306A>G (p.Gln1102=)
|
|
|
NM_001369.3(DNAH5):c.3309C>T (p.Thr1103=)
|
|
|
NM_001369.3(DNAH5):c.3315C>T (p.Asn1105=)
|
|
|
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.3344A>G (p.Glu1115Gly)
|
|
|
NM_001369.3(DNAH5):c.3387C>T (p.Ser1129=)
|
|
|
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
|
|
|
NM_001369.3(DNAH5):c.3396+9A>G
|
rs1770935026
|
|
NM_001369.3(DNAH5):c.3397-15G>C
|
|
|
NM_001369.3(DNAH5):c.3397-16T>C
|
|
|
NM_001369.3(DNAH5):c.3397-17C>T
|
|
|
NM_001369.3(DNAH5):c.3397-20A>G
|
|
|
NM_001369.3(DNAH5):c.3397-8G>A
|
rs200694593
|
|
NM_001369.3(DNAH5):c.3408A>T (p.Thr1136=)
|
rs762124795
|
|
NM_001369.3(DNAH5):c.3438C>T (p.His1146=)
|
|
|
NM_001369.3(DNAH5):c.3446A>G (p.Gln1149Arg)
|
|
|
NM_001369.3(DNAH5):c.3462A>G (p.Glu1154=)
|
|
|
NM_001369.3(DNAH5):c.3471G>A (p.Lys1157=)
|
rs865979045
|
|
NM_001369.3(DNAH5):c.3473C>T (p.Thr1158Ile)
|
|
|
NM_001369.3(DNAH5):c.3483A>C (p.Thr1161=)
|
|
|
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.3487A>C (p.Ser1163Arg)
|
|
|
NM_001369.3(DNAH5):c.3513C>A (p.Ser1171=)
|
rs1770119547
|
|
NM_001369.3(DNAH5):c.3516G>A (p.Gln1172=)
|
rs2151920417
|
|
NM_001369.3(DNAH5):c.3535C>G (p.Leu1179Val)
|
|
|
NM_001369.3(DNAH5):c.3554C>G (p.Ala1185Gly)
|
|
|
NM_001369.3(DNAH5):c.3555T>C (p.Ala1185=)
|
|
|
NM_001369.3(DNAH5):c.3558G>A (p.Glu1186=)
|
|
|
NM_001369.3(DNAH5):c.3564A>G (p.Glu1188=)
|
|
|
NM_001369.3(DNAH5):c.3567T>C (p.Tyr1189=)
|
rs1436338480
|
|
NM_001369.3(DNAH5):c.3573T>C (p.Cys1191=)
|
rs756343037
|
|
NM_001369.3(DNAH5):c.3573T>G (p.Cys1191Trp)
|
|
|
NM_001369.3(DNAH5):c.358G>A (p.Asp120Asn)
|
|
|
NM_001369.3(DNAH5):c.3598+11_3598+17dup
|
|
|
NM_001369.3(DNAH5):c.3598+16T>C
|
|
|
NM_001369.3(DNAH5):c.3598+19A>G
|
|
|
NM_001369.3(DNAH5):c.3599-7T>C
|
|
|
NM_001369.3(DNAH5):c.3599-8T>A
|
|
|
NM_001369.3(DNAH5):c.3607A>C (p.Lys1203Gln)
|
|
|
NM_001369.3(DNAH5):c.3613G>A (p.Ala1205Thr)
|
|
|
NM_001369.3(DNAH5):c.3615C>T (p.Ala1205=)
|
|
|
NM_001369.3(DNAH5):c.3616C>T (p.Leu1206=)
|
|
|
NM_001369.3(DNAH5):c.3618G>A (p.Leu1206=)
|
|
|
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=)
|
|
|
NM_001369.3(DNAH5):c.3640A>G (p.Met1214Val)
|
rs766505155
|
|
NM_001369.3(DNAH5):c.3643G>T (p.Val1215Phe)
|
|
|
NM_001369.3(DNAH5):c.3648C>T (p.Val1216=)
|
rs1175994969
|
|
NM_001369.3(DNAH5):c.3651T>C (p.Ile1217=)
|
|
|
NM_001369.3(DNAH5):c.3657C>T (p.Arg1219=)
|
|
|
NM_001369.3(DNAH5):c.3665A>T (p.Asn1222Ile)
|
|
|
NM_001369.3(DNAH5):c.3681T>C (p.Ser1227=)
|
rs755142785
|
|
NM_001369.3(DNAH5):c.3683A>T (p.Glu1228Val)
|
|
|
NM_001369.3(DNAH5):c.3684G>A (p.Glu1228=)
|
|
|
NM_001369.3(DNAH5):c.3693C>T (p.Asn1231=)
|
rs969699608
|
|
NM_001369.3(DNAH5):c.3707T>C (p.Ile1236Thr)
|
|
|
NM_001369.3(DNAH5):c.3711A>G (p.Glu1237=)
|
rs2151918811
|
|
NM_001369.3(DNAH5):c.3717C>T (p.Phe1239=)
|
|
|
NM_001369.3(DNAH5):c.3729A>C (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.3758T>C (p.Ile1253Thr)
|
|
|
NM_001369.3(DNAH5):c.3761G>A (p.Arg1254Gln)
|
|
|
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.3792G>A (p.Arg1264=)
|
|
|
NM_001369.3(DNAH5):c.3804C>T (p.Ile1268=)
|
|
|
NM_001369.3(DNAH5):c.3828T>G (p.Pro1276=)
|
rs1266421281
|
|
NM_001369.3(DNAH5):c.3829A>T (p.Ile1277Phe)
|
|
|
NM_001369.3(DNAH5):c.3834+10G>A
|
rs772584808
|
|
NM_001369.3(DNAH5):c.3834+12T>A
|
|
|
NM_001369.3(DNAH5):c.3834+7A>G
|
rs2151918452
|
|
NM_001369.3(DNAH5):c.3834+8A>C
|
|
|
NM_001369.3(DNAH5):c.3835-11_3835-10insA
|
|
|
NM_001369.3(DNAH5):c.3835-12A>G
|
|
|
NM_001369.3(DNAH5):c.3835-12A>T
|
|
|
NM_001369.3(DNAH5):c.3835-12del
|
|
|
NM_001369.3(DNAH5):c.3835-13T>A
|
|
|
NM_001369.3(DNAH5):c.3835-14C>T
|
|
|
NM_001369.3(DNAH5):c.3835-15C>G
|
|
|
NM_001369.3(DNAH5):c.3835-18T>A
|
|
|
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.3835-8T>C
|
rs2151914303
|
|
NM_001369.3(DNAH5):c.3835-8T>G
|
|
|
NM_001369.3(DNAH5):c.383T>A (p.Val128Glu)
|
|
|
NM_001369.3(DNAH5):c.3846C>G (p.Ala1282=)
|
|
|
NM_001369.3(DNAH5):c.3847C>T (p.Leu1283=)
|
|
|
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=)
|
|
|
NM_001369.3(DNAH5):c.384G>C (p.Val128=)
|
|
|
NM_001369.3(DNAH5):c.3855C>T (p.Asn1285=)
|
|
|
NM_001369.3(DNAH5):c.3864A>G (p.Gly1288=)
|
rs756462132
|
|
NM_001369.3(DNAH5):c.3873A>T (p.Ile1291=)
|
rs970611077
|
|
NM_001369.3(DNAH5):c.3887T>C (p.Ile1296Thr)
|
|
|
NM_001369.3(DNAH5):c.3903A>G (p.Thr1301=)
|
rs1769518336
|
|
NM_001369.3(DNAH5):c.3908A>G (p.His1303Arg)
|
|
|
NM_001369.3(DNAH5):c.390C>T (p.Phe130=)
|
rs1580909350
|
|
NM_001369.3(DNAH5):c.3930G>C (p.Leu1310=)
|
|
|
NM_001369.3(DNAH5):c.3943G>A (p.Glu1315Lys)
|
|
|
NM_001369.3(DNAH5):c.3948C>G (p.Val1316=)
|
rs369432984
|
|
NM_001369.3(DNAH5):c.3959T>C (p.Leu1320Ser)
|
|
|
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.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.4003G>A (p.Val1335Met)
|
|
|
NM_001369.3(DNAH5):c.402C>T (p.Asp134=)
|
|
|
NM_001369.3(DNAH5):c.4044C>T (p.Asp1348=)
|
rs2151913836
|
|
NM_001369.3(DNAH5):c.4053+150_4053+151dup
|
rs3058927
|
|
NM_001369.3(DNAH5):c.4053+7C>G
|
|
|
NM_001369.3(DNAH5):c.4053+7C>T
|
|
|
NM_001369.3(DNAH5):c.4053+9C>T
|
|
|
NM_001369.3(DNAH5):c.4054-10T>G
|
|
|
NM_001369.3(DNAH5):c.4054-16T>C
|
|
|
NM_001369.3(DNAH5):c.4054-17T>C
|
|
|
NM_001369.3(DNAH5):c.4054-18T>C
|
|
|
NM_001369.3(DNAH5):c.4054-19T>A
|
|
|
NM_001369.3(DNAH5):c.4054-5T>C
|
rs2151911701
|
|
NM_001369.3(DNAH5):c.4054-6G>C
|
rs574371136
|
|
NM_001369.3(DNAH5):c.4056T>C (p.Asn1352=)
|
|
|
NM_001369.3(DNAH5):c.4060C>G (p.Pro1354Ala)
|
|
|
NM_001369.3(DNAH5):c.4075T>C (p.Leu1359=)
|
|
|
NM_001369.3(DNAH5):c.408C>T (p.Ser136=)
|
|
|
NM_001369.3(DNAH5):c.4098C>T (p.Asp1366=)
|
rs1263441445
|
|
NM_001369.3(DNAH5):c.4101G>A (p.Arg1367=)
|
|
|
NM_001369.3(DNAH5):c.4104T>C (p.Leu1368=)
|
|
|
NM_001369.3(DNAH5):c.4106T>C (p.Ile1369Thr)
|
|
|
NM_001369.3(DNAH5):c.4116+16T>C
|
rs2151911511
|
|
NM_001369.3(DNAH5):c.4116+17C>T
|
|
|
NM_001369.3(DNAH5):c.4116+19A>G
|
|
|
NM_001369.3(DNAH5):c.4116+7T>G
|
|
|
NM_001369.3(DNAH5):c.4117-10T>C
|
|
|
NM_001369.3(DNAH5):c.4117-13G>A
|
|
|
NM_001369.3(DNAH5):c.4117-17A>G
|
|
|
NM_001369.3(DNAH5):c.4117-9T>C
|
|
|
NM_001369.3(DNAH5):c.4138C>T (p.Arg1380Trp)
|
|
|
NM_001369.3(DNAH5):c.4140G>T (p.Arg1380=)
|
|
|
NM_001369.3(DNAH5):c.4146C>T (p.Tyr1382=)
|
|
|
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.4182G>C (p.Leu1394=)
|
|
|
NM_001369.3(DNAH5):c.4185A>G (p.Pro1395=)
|
|
|
NM_001369.3(DNAH5):c.4209T>C (p.Leu1403=)
|
rs1397223291
|
|
NM_001369.3(DNAH5):c.420C>G (p.Thr140=)
|
|
|
NM_001369.3(DNAH5):c.420C>T (p.Thr140=)
|
|
|
NM_001369.3(DNAH5):c.4221G>A (p.Lys1407=)
|
|
|
NM_001369.3(DNAH5):c.4224A>G (p.Gln1408=)
|
|
|
NM_001369.3(DNAH5):c.4225C>T (p.Leu1409=)
|
|
|
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>C (p.Leu1418=)
|
|
|
NM_001369.3(DNAH5):c.4254G>T (p.Leu1418=)
|
|
|
NM_001369.3(DNAH5):c.4255T>C (p.Tyr1419His)
|
|
|
NM_001369.3(DNAH5):c.4276G>A (p.Val1426Ile)
|
|
|
NM_001369.3(DNAH5):c.4278A>C (p.Val1426=)
|
|
|
NM_001369.3(DNAH5):c.4278A>G (p.Val1426=)
|
|
|
NM_001369.3(DNAH5):c.4281T>C (p.Asn1427=)
|
|
|
NM_001369.3(DNAH5):c.4308G>A (p.Glu1436=)
|
rs2151910740
|
|
NM_001369.3(DNAH5):c.4309G>A (p.Val1437Met)
|
|
|
NM_001369.3(DNAH5):c.4324A>C (p.Ile1442Leu)
|
|
|
NM_001369.3(DNAH5):c.4339T>C (p.Leu1447=)
|
|
|
NM_001369.3(DNAH5):c.4353C>T (p.Asn1451=)
|
rs2151910642
|
|
NM_001369.3(DNAH5):c.4355+14T>A
|
|
|
NM_001369.3(DNAH5):c.4355+18T>C
|
|
|
NM_001369.3(DNAH5):c.4355+8A>T
|
|
|
NM_001369.3(DNAH5):c.4356-3_4356-2del
|
rs886038479
|
|
NM_001369.3(DNAH5):c.4356-4A>C
|
|
|
NM_001369.3(DNAH5):c.4356-4A>G
|
rs369128105
|
|
NM_001369.3(DNAH5):c.4365G>A (p.Lys1455=)
|
rs2151908906
|
|
NM_001369.3(DNAH5):c.4372C>T (p.Arg1458Trp)
|
|
|
NM_001369.3(DNAH5):c.4378T>C (p.Leu1460=)
|
|
|
NM_001369.3(DNAH5):c.438+10A>T
|
rs1232350879
|
|
NM_001369.3(DNAH5):c.438+11A>G
|
|
|
NM_001369.3(DNAH5):c.438+18T>C
|
|
|
NM_001369.3(DNAH5):c.438+20G>A
|
|
|
NM_001369.3(DNAH5):c.439-10T>C
|
rs2151995771
|
|
NM_001369.3(DNAH5):c.439-12C>T
|
|
|
NM_001369.3(DNAH5):c.439-17T>C
|
|
|
NM_001369.3(DNAH5):c.439-20A>G
|
|
|
NM_001369.3(DNAH5):c.439-8T>C
|
|
|
NM_001369.3(DNAH5):c.4392G>A (p.Gln1464=)
|
rs2151908827
|
|
NM_001369.3(DNAH5):c.4398T>C (p.Phe1466=)
|
|
|
NM_001369.3(DNAH5):c.4409A>G (p.Lys1470Arg)
|
|
|
NM_001369.3(DNAH5):c.4410G>A (p.Lys1470=)
|
rs960795516
|
|
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.4479G>A (p.Glu1493=)
|
|
|
NM_001369.3(DNAH5):c.4491A>G (p.Glu1497=)
|
|
|
NM_001369.3(DNAH5):c.4509C>G (p.Thr1503=)
|
|
|
NM_001369.3(DNAH5):c.4521G>A (p.Leu1507=)
|
rs2151908548
|
|
NM_001369.3(DNAH5):c.4530G>C (p.Gly1510=)
|
|
|
NM_001369.3(DNAH5):c.4533T>C (p.Asn1511=)
|
rs2151908506
|
|
NM_001369.3(DNAH5):c.4545G>A (p.Lys1515=)
|
|
|
NM_001369.3(DNAH5):c.4553A>G (p.Asn1518Ser)
|
|
|
NM_001369.3(DNAH5):c.4566A>C (p.Ala1522=)
|
rs775511692
|
|
NM_001369.3(DNAH5):c.4573C>T (p.Leu1525=)
|
|
|
NM_001369.3(DNAH5):c.4577A>T (p.Lys1526Ile)
|
|
|
NM_001369.3(DNAH5):c.457T>C (p.Leu153=)
|
rs2151995722
|
|
NM_001369.3(DNAH5):c.4591A>T (p.Ile1531Leu)
|
|
|
NM_001369.3(DNAH5):c.4596+14T>C
|
|
|
NM_001369.3(DNAH5):c.4596+8A>G
|
|
|
NM_001369.3(DNAH5):c.4596+9T>C
|
|
|
NM_001369.3(DNAH5):c.4597-12C>T
|
|
|
NM_001369.3(DNAH5):c.4597-19G>A
|
|
|
NM_001369.3(DNAH5):c.4597-19G>C
|
|
|
NM_001369.3(DNAH5):c.4597-19G>T
|
|
|
NM_001369.3(DNAH5):c.4597-4A>G
|
|
|
NM_001369.3(DNAH5):c.459A>G (p.Leu153=)
|
rs1382955783
|
|
NM_001369.3(DNAH5):c.4623G>A (p.Glu1541=)
|
|
|
NM_001369.3(DNAH5):c.4629C>T (p.Asp1543=)
|
rs149049465
|
|
NM_001369.3(DNAH5):c.464C>T (p.Ala155Val)
|
|
|
NM_001369.3(DNAH5):c.4650A>G (p.Gln1550=)
|
|
|
NM_001369.3(DNAH5):c.4659T>C (p.Asn1553=)
|
|
|
NM_001369.3(DNAH5):c.4662A>G (p.Glu1554=)
|
|
|
NM_001369.3(DNAH5):c.4668C>T (p.Asp1556=)
|
rs2151905825
|
|
NM_001369.3(DNAH5):c.4677A>G (p.Thr1559=)
|
|
|
NM_001369.3(DNAH5):c.468A>T (p.Ala156=)
|
|
|
NM_001369.3(DNAH5):c.4701C>G (p.Thr1567=)
|
|
|
NM_001369.3(DNAH5):c.4707A>G (p.Gly1569=)
|
rs886059985
|
|
NM_001369.3(DNAH5):c.4717T>C (p.Leu1573=)
|
|
|
NM_001369.3(DNAH5):c.471T>C (p.Asp157=)
|
|
|
NM_001369.3(DNAH5):c.4730G>A (p.Ser1577Asn)
|
|
|
NM_001369.3(DNAH5):c.4736C>T (p.Ser1579Leu)
|
|
|
NM_001369.3(DNAH5):c.4743C>A (p.Ile1581=)
|
rs1334724006
|
|
NM_001369.3(DNAH5):c.4743C>T (p.Ile1581=)
|
rs1334724006
|
|
NM_001369.3(DNAH5):c.4752C>T (p.Asn1584=)
|
|
|
NM_001369.3(DNAH5):c.476G>T (p.Gly159Val)
|
|
|
NM_001369.3(DNAH5):c.4773G>A (p.Leu1591=)
|
|
|
NM_001369.3(DNAH5):c.4773G>T (p.Leu1591Phe)
|
|
|
NM_001369.3(DNAH5):c.4782C>G (p.Ser1594=)
|
|
|
NM_001369.3(DNAH5):c.4785A>G (p.Leu1595=)
|
|
|
NM_001369.3(DNAH5):c.4786C>T (p.Leu1596=)
|
rs2151905567
|
|
NM_001369.3(DNAH5):c.4788G>A (p.Leu1596=)
|
rs2151905559
|
|
NM_001369.3(DNAH5):c.478C>T (p.Leu160=)
|
|
|
NM_001369.3(DNAH5):c.4796+12A>G
|
|
|
NM_001369.3(DNAH5):c.4796+16A>G
|
|
|
NM_001369.3(DNAH5):c.4796+18C>T
|
|
|
NM_001369.3(DNAH5):c.4796+19T>C
|
|
|
NM_001369.3(DNAH5):c.4796+7A>G
|
rs2151905538
|
|
NM_001369.3(DNAH5):c.4797-12T>A
|
|
|
NM_001369.3(DNAH5):c.4797-12T>G
|
|
|
NM_001369.3(DNAH5):c.4797-13T>C
|
|
|
NM_001369.3(DNAH5):c.4797-16C>A
|
|
|
NM_001369.3(DNAH5):c.4797-17C>T
|
|
|
NM_001369.3(DNAH5):c.4797-18A>G
|
|
|
NM_001369.3(DNAH5):c.4797-9T>C
|
rs1237033985
|
|
NM_001369.3(DNAH5):c.47G>A (p.Arg16Gln)
|
|
|
NM_001369.3(DNAH5):c.480G>A (p.Leu160=)
|
rs2151995671
|
|
NM_001369.3(DNAH5):c.4812C>T (p.Phe1604=)
|
|
|
NM_001369.3(DNAH5):c.4818C>T (p.Ala1606=)
|
|
|
NM_001369.3(DNAH5):c.4824T>A (p.Ile1608=)
|
|
|
NM_001369.3(DNAH5):c.4824T>C (p.Ile1608=)
|
rs1016408037
|
|
NM_001369.3(DNAH5):c.4827A>G (p.Gln1609=)
|
|
|
NM_001369.3(DNAH5):c.4830A>G (p.Lys1610=)
|
|
|
NM_001369.3(DNAH5):c.483C>T (p.Leu161=)
|
|
|
NM_001369.3(DNAH5):c.4850A>G (p.Asn1617Ser)
|
|
|
NM_001369.3(DNAH5):c.4866C>A (p.Ile1622=)
|
|
|
NM_001369.3(DNAH5):c.486C>T (p.Asn162=)
|
|
|
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.4932T>C (p.Ile1644=)
|
|
|
NM_001369.3(DNAH5):c.4942C>T (p.Leu1648=)
|
|
|
NM_001369.3(DNAH5):c.4947C>A (p.Pro1649=)
|
|
|
NM_001369.3(DNAH5):c.4950+13T>A
|
|
|
NM_001369.3(DNAH5):c.4950+14_4950+16del
|
|
|
NM_001369.3(DNAH5):c.4950+15_4950+17del
|
|
|
NM_001369.3(DNAH5):c.4950+16T>G
|
|
|
NM_001369.3(DNAH5):c.4950+17del
|
|
|
NM_001369.3(DNAH5):c.4950+18A>G
|
|
|
NM_001369.3(DNAH5):c.4951-17T>C
|
|
|
NM_001369.3(DNAH5):c.4951-4A>C
|
rs1181975457
|
|
NM_001369.3(DNAH5):c.4951-4A>T
|
|
|
NM_001369.3(DNAH5):c.4951-5C>T
|
|
|
NM_001369.3(DNAH5):c.4951-6T>C
|
|
|
NM_001369.3(DNAH5):c.4956C>T (p.Ala1652=)
|
|
|
NM_001369.3(DNAH5):c.4960C>A (p.Arg1654=)
|
|
|
NM_001369.3(DNAH5):c.4960C>T (p.Arg1654Trp)
|
|
|
NM_001369.3(DNAH5):c.496C>T (p.Arg166Cys)
|
|
|
NM_001369.3(DNAH5):c.4971C>T (p.Asn1657=)
|
|
|
NM_001369.3(DNAH5):c.4972A>G (p.Ile1658Val)
|
rs535557021
|
|
NM_001369.3(DNAH5):c.4989G>A (p.Val1663=)
|
rs2151883916
|
|
NM_001369.3(DNAH5):c.498T>C (p.Arg166=)
|
|
|
NM_001369.3(DNAH5):c.5004G>A (p.Arg1668=)
|
|
|
NM_001369.3(DNAH5):c.5007A>G (p.Ala1669=)
|
|
|
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.5031G>A (p.Gln1677=)
|
rs1766718203
|
|
NM_001369.3(DNAH5):c.5034C>T (p.Cys1678=)
|
|
|
NM_001369.3(DNAH5):c.5045A>G (p.Asp1682Gly)
|
|
|
NM_001369.3(DNAH5):c.504G>C (p.Leu168=)
|
rs770818155
|
|
NM_001369.3(DNAH5):c.5051C>A (p.Thr1684Asn)
|
|
|
NM_001369.3(DNAH5):c.5052C>G (p.Thr1684=)
|
|
|
NM_001369.3(DNAH5):c.5055G>A (p.Leu1685=)
|
rs1300753835
|
|
NM_001369.3(DNAH5):c.5058G>A (p.Gly1686=)
|
|
|
NM_001369.3(DNAH5):c.5064G>A (p.Leu1688=)
|
|
|
NM_001369.3(DNAH5):c.5067A>G (p.Leu1689=)
|
|
|
NM_001369.3(DNAH5):c.5070A>G (p.Pro1690=)
|
|
|
NM_001369.3(DNAH5):c.5076G>A (p.Leu1692=)
|
|
|
NM_001369.3(DNAH5):c.5082C>T (p.Asp1694=)
|
rs2151883638
|
|
NM_001369.3(DNAH5):c.5110A>G (p.Thr1704Ala)
|
|
|
NM_001369.3(DNAH5):c.5112T>C (p.Thr1704=)
|
|
|
NM_001369.3(DNAH5):c.5114+13G>A
|
|
|
NM_001369.3(DNAH5):c.5114+15T>C
|
|
|
NM_001369.3(DNAH5):c.5114+16C>G
|
|
|
NM_001369.3(DNAH5):c.5114+18T>G
|
|
|
NM_001369.3(DNAH5):c.5114+19T>C
|
|
|
NM_001369.3(DNAH5):c.5115-12C>T
|
|
|
NM_001369.3(DNAH5):c.5115-21_5115-20del
|
|
|
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
|
|
|
NM_001369.3(DNAH5):c.5115-7C>G
|
|
|
NM_001369.3(DNAH5):c.5115-8C>T
|
|
|
NM_001369.3(DNAH5):c.511A>G (p.Ile171Val)
|
|
|
NM_001369.3(DNAH5):c.5131C>A (p.Arg1711=)
|
|
|
NM_001369.3(DNAH5):c.5142T>C (p.Phe1714=)
|
rs2151870424
|
|
NM_001369.3(DNAH5):c.5160C>G (p.Val1720=)
|
|
|
NM_001369.3(DNAH5):c.516C>T (p.Phe172=)
|
|
|
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.5190G>T (p.Gly1730=)
|
|
|
NM_001369.3(DNAH5):c.5193G>A (p.Gln1731=)
|
|
|
NM_001369.3(DNAH5):c.5196G>A (p.Ala1732=)
|
|
|
NM_001369.3(DNAH5):c.5196G>C (p.Ala1732=)
|
rs201484389
|
|
NM_001369.3(DNAH5):c.5209A>G (p.Thr1737Ala)
|
|
|
NM_001369.3(DNAH5):c.5218G>T (p.Ala1740Ser)
|
|
|
NM_001369.3(DNAH5):c.5223T>C (p.His1741=)
|
|
|
NM_001369.3(DNAH5):c.522T>G (p.Pro174=)
|
|
|
NM_001369.3(DNAH5):c.5235G>C (p.Val1745=)
|
|
|
NM_001369.3(DNAH5):c.5246T>C (p.Ile1749Thr)
|
|
|
NM_001369.3(DNAH5):c.525T>C (p.Ala175=)
|
rs1326160674
|
|
NM_001369.3(DNAH5):c.5268A>G (p.Glu1756=)
|
|
|
NM_001369.3(DNAH5):c.5271+11T>G
|
|
|
NM_001369.3(DNAH5):c.5271+16A>G
|
|
|
NM_001369.3(DNAH5):c.5271+8T>C
|
|
|
NM_001369.3(DNAH5):c.5271+9A>G
|
|
|
NM_001369.3(DNAH5):c.5272-10T>C
|
|
|
NM_001369.3(DNAH5):c.5272-12T>A
|
|
|
NM_001369.3(DNAH5):c.5272-14G>C
|
|
|
NM_001369.3(DNAH5):c.5272-14G>T
|
|
|
NM_001369.3(DNAH5):c.5272-15dup
|
rs35337694
|
|
NM_001369.3(DNAH5):c.5272-18T>C
|
|
|
NM_001369.3(DNAH5):c.5272-4A>G
|
rs569920273
|
|
NM_001369.3(DNAH5):c.5272-4A>T
|
rs569920273
|
|
NM_001369.3(DNAH5):c.5272-5C>T
|
|
|
NM_001369.3(DNAH5):c.5272-7A>G
|
|
|
NM_001369.3(DNAH5):c.5272-9C>T
|
rs555481241
|
|
NM_001369.3(DNAH5):c.5274C>A (p.Ile1758=)
|
|
|
NM_001369.3(DNAH5):c.5274C>T (p.Ile1758=)
|
rs2151862148
|
|
NM_001369.3(DNAH5):c.5275T>A (p.Tyr1759Asn)
|
|
|
NM_001369.3(DNAH5):c.5281C>A (p.Arg1761=)
|
rs148891849
|
|
NM_001369.3(DNAH5):c.5282G>A (p.Arg1761Gln)
|
|
|
NM_001369.3(DNAH5):c.5294T>C (p.Ile1765Thr)
|
|
|
NM_001369.3(DNAH5):c.5310T>C (p.Gly1770=)
|
rs2151861984
|
|
NM_001369.3(DNAH5):c.5315C>T (p.Thr1772Met)
|
|
|
NM_001369.3(DNAH5):c.5319T>A (p.Ile1773=)
|
|
|
NM_001369.3(DNAH5):c.532G>A (p.Ala178Thr)
|
|
|
NM_001369.3(DNAH5):c.5346G>A (p.Glu1782=)
|
|
|
NM_001369.3(DNAH5):c.5361T>C (p.Val1787=)
|
|
|
NM_001369.3(DNAH5):c.5367T>G (p.Leu1789=)
|
|
|
NM_001369.3(DNAH5):c.5373T>C (p.Ser1791=)
|
|
|
NM_001369.3(DNAH5):c.5382A>G (p.Glu1794=)
|
|
|
NM_001369.3(DNAH5):c.5391G>A (p.Gln1797=)
|
|
|
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.5442A>G (p.Thr1814=)
|
|
|
NM_001369.3(DNAH5):c.5442A>T (p.Thr1814=)
|
|
|
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=)
|
|
|
NM_001369.3(DNAH5):c.5481T>G (p.Ala1827=)
|
|
|
NM_001369.3(DNAH5):c.5484+10T>A
|
|
|
NM_001369.3(DNAH5):c.5484+14A>C
|
|
|
NM_001369.3(DNAH5):c.5484+20A>G
|
|
|
NM_001369.3(DNAH5):c.5484+9A>G
|
|
|
NM_001369.3(DNAH5):c.5485-12T>C
|
|
|
NM_001369.3(DNAH5):c.5485-15T>C
|
|
|
NM_001369.3(DNAH5):c.5485-18C>T
|
|
|
NM_001369.3(DNAH5):c.5485-19C>A
|
|
|
NM_001369.3(DNAH5):c.5485-19C>G
|
|
|
NM_001369.3(DNAH5):c.5485-5A>G
|
|
|
NM_001369.3(DNAH5):c.5485-6C>T
|
|
|
NM_001369.3(DNAH5):c.5485-8T>C
|
|
|
NM_001369.3(DNAH5):c.5490A>T (p.Gly1830=)
|
|
|
NM_001369.3(DNAH5):c.5496A>G (p.Leu1832=)
|
rs2151860590
|
|
NM_001369.3(DNAH5):c.5517A>G (p.Thr1839=)
|
|
|
NM_001369.3(DNAH5):c.552C>G (p.Gly184=)
|
|
|
NM_001369.3(DNAH5):c.552C>T (p.Gly184=)
|
|
|
NM_001369.3(DNAH5):c.5539A>G (p.Arg1847Gly)
|
|
|
NM_001369.3(DNAH5):c.5566A>G (p.Met1856Val)
|
|
|
NM_001369.3(DNAH5):c.5577T>G (p.Thr1859=)
|
rs2151860373
|
|
NM_001369.3(DNAH5):c.5583G>T (p.Gln1861His)
|
|
|
NM_001369.3(DNAH5):c.558C>A (p.Leu186=)
|
rs145895917
|
|
NM_001369.3(DNAH5):c.5598A>G (p.Leu1866=)
|
|
|
NM_001369.3(DNAH5):c.559G>A (p.Glu187Lys)
|
|
|
NM_001369.3(DNAH5):c.5601C>T (p.Leu1867=)
|
rs2151860302
|
|
NM_001369.3(DNAH5):c.5604T>C (p.Asn1868=)
|
|
|
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.5617G>A (p.Val1873Ile)
|
|
|
NM_001369.3(DNAH5):c.5622C>T (p.Thr1874=)
|
rs759459740
|
|
NM_001369.3(DNAH5):c.5624C>T (p.Thr1875Met)
|
|
|
NM_001369.3(DNAH5):c.5643G>C (p.Thr1881=)
|
|
|
NM_001369.3(DNAH5):c.5649A>G (p.Arg1883=)
|
rs1765074628
|
|
NM_001369.3(DNAH5):c.5652G>A (p.Val1884=)
|
|
|
NM_001369.3(DNAH5):c.5676T>C (p.Ile1892=)
|
|
|
NM_001369.3(DNAH5):c.567T>C (p.Leu189=)
|
rs2151995493
|
|
NM_001369.3(DNAH5):c.5680G>A (p.Val1894Met)
|
|
|
NM_001369.3(DNAH5):c.57+14G>A
|
|
|
NM_001369.3(DNAH5):c.57+16C>G
|
|
|
NM_001369.3(DNAH5):c.57+16C>T
|
|
|
NM_001369.3(DNAH5):c.57+17T>C
|
|
|
NM_001369.3(DNAH5):c.57+18G>A
|
|
|
NM_001369.3(DNAH5):c.5700T>C (p.Phe1900=)
|
|
|
NM_001369.3(DNAH5):c.5706C>A (p.Asp1902Glu)
|
|
|
NM_001369.3(DNAH5):c.5706C>T (p.Asp1902=)
|
|
|
NM_001369.3(DNAH5):c.5709+12A>G
|
|
|
NM_001369.3(DNAH5):c.5710-10T>C
|
|
|
NM_001369.3(DNAH5):c.5710-14C>T
|
|
|
NM_001369.3(DNAH5):c.5710-17T>C
|
|
|
NM_001369.3(DNAH5):c.5710-19T>G
|
rs2151857572
|
|
NM_001369.3(DNAH5):c.5710-7A>T
|
|
|
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.5716A>G (p.Met1906Val)
|
|
|
NM_001369.3(DNAH5):c.5735T>C (p.Met1912Thr)
|
|
|
NM_001369.3(DNAH5):c.5754A>G (p.Lys1918=)
|
rs1213228715
|
|
NM_001369.3(DNAH5):c.5775C>T (p.Asn1925=)
|
rs112389411
|
|
NM_001369.3(DNAH5):c.5778A>G (p.Glu1926=)
|
|
|
NM_001369.3(DNAH5):c.5787C>T (p.Asp1929=)
|
rs2151857268
|
|
NM_001369.3(DNAH5):c.57G>T (p.Thr19=)
|
rs142969794
|
|
NM_001369.3(DNAH5):c.58-12C>G
|
|
|
NM_001369.3(DNAH5):c.58-5T>A
|
|
|
NM_001369.3(DNAH5):c.58-6T>C
|
|
|
NM_001369.3(DNAH5):c.58-7C>T
|
rs976389334
|
|
NM_001369.3(DNAH5):c.58-7_58-3del
|
|
|
NM_001369.3(DNAH5):c.5821A>T (p.Ile1941Leu)
|
|
|
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.5853C>T (p.Asp1951=)
|
rs1475309331
|
|
NM_001369.3(DNAH5):c.585T>A (p.Ile195=)
|
|
|
NM_001369.3(DNAH5):c.586C>T (p.Arg196Cys)
|
|
|
NM_001369.3(DNAH5):c.5871A>G (p.Pro1957=)
|
rs1764851174
|
|
NM_001369.3(DNAH5):c.5874T>G (p.Leu1958=)
|
|
|
NM_001369.3(DNAH5):c.587G>A (p.Arg196His)
|
|
|
NM_001369.3(DNAH5):c.5880C>T (p.Asp1960=)
|
rs1764848840
|
|
NM_001369.3(DNAH5):c.5882+10C>T
|
|
|
NM_001369.3(DNAH5):c.5882+11C>G
|
|
|
NM_001369.3(DNAH5):c.5882+11C>T
|
|
|
NM_001369.3(DNAH5):c.5882+13T>C
|
|
|
NM_001369.3(DNAH5):c.5882+16T>C
|
|
|
NM_001369.3(DNAH5):c.5882+9A>G
|
|
|
NM_001369.3(DNAH5):c.5883-11T>C
|
|
|
NM_001369.3(DNAH5):c.5883-18A>G
|
|
|
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.5895G>T (p.Thr1965=)
|
|
|
NM_001369.3(DNAH5):c.5898G>A (p.Leu1966=)
|
|
|
NM_001369.3(DNAH5):c.5901T>A (p.Ala1967=)
|
rs2151838295
|
|
NM_001369.3(DNAH5):c.591G>A (p.Gln197=)
|
|
|
NM_001369.3(DNAH5):c.5924G>C (p.Gly1975Ala)
|
|
|
NM_001369.3(DNAH5):c.5925G>A (p.Gly1975=)
|
|
|
NM_001369.3(DNAH5):c.5928A>T (p.Gly1976=)
|
rs1172789153
|
|
NM_001369.3(DNAH5):c.5937T>G (p.Ala1979=)
|
|
|
NM_001369.3(DNAH5):c.5961A>G (p.Thr1987=)
|
|
|
NM_001369.3(DNAH5):c.5967C>T (p.Thr1989=)
|
rs1179920146
|
|
NM_001369.3(DNAH5):c.5970T>C (p.Thr1990=)
|
|
|
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.5994G>C (p.Gly1998=)
|
rs1171499406
|
|
NM_001369.3(DNAH5):c.5997A>G (p.Lys1999=)
|
|
|
NM_001369.3(DNAH5):c.6001G>A (p.Val2001Ile)
|
|
|
NM_001369.3(DNAH5):c.6003C>G (p.Val2001=)
|
rs372754085
|
|
NM_001369.3(DNAH5):c.6012C>T (p.Phe2004=)
|
|
|
NM_001369.3(DNAH5):c.6021A>G (p.Ser2007=)
|
rs758505863
|
|
NM_001369.3(DNAH5):c.6026A>G (p.Gln2009Arg)
|
|
|
NM_001369.3(DNAH5):c.6033T>C (p.Asp2011=)
|
|
|
NM_001369.3(DNAH5):c.6036C>T (p.Phe2012=)
|
rs2151837832
|
|
NM_001369.3(DNAH5):c.6039A>G (p.Arg2013=)
|
|
|
NM_001369.3(DNAH5):c.603C>T (p.Ser201=)
|
rs935006138
|
|
NM_001369.3(DNAH5):c.6042A>C (p.Gly2014=)
|
|
|
NM_001369.3(DNAH5):c.6048A>G (p.Gly2016=)
|
|
|
NM_001369.3(DNAH5):c.6049C>T (p.Arg2017Trp)
|
rs143679999
|
|
NM_001369.3(DNAH5):c.6061+14T>G
|
|
|
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>C
|
|
|
NM_001369.3(DNAH5):c.6062-15A>G
|
|
|
NM_001369.3(DNAH5):c.6062-19A>T
|
|
|
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=)
|
|
|
NM_001369.3(DNAH5):c.6072G>A (p.Gln2024=)
|
|
|
NM_001369.3(DNAH5):c.609G>A (p.Leu203=)
|
rs2151995419
|
|
NM_001369.3(DNAH5):c.609G>T (p.Leu203=)
|
|
|
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.6135A>G (p.Ala2045=)
|
|
|
NM_001369.3(DNAH5):c.6180A>G (p.Lys2060=)
|
|
|
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.6191T>C (p.Ile2064Thr)
|
|
|
NM_001369.3(DNAH5):c.6197C>T (p.Thr2066Ile)
|
|
|
NM_001369.3(DNAH5):c.6198T>C (p.Thr2066=)
|
|
|
NM_001369.3(DNAH5):c.6201T>C (p.Asp2067=)
|
rs2151836398
|
|
NM_001369.3(DNAH5):c.621G>A (p.Val207=)
|
|
|
NM_001369.3(DNAH5):c.6228A>G (p.Glu2076=)
|
|
|
NM_001369.3(DNAH5):c.6235C>T (p.Leu2079Phe)
|
|
|
NM_001369.3(DNAH5):c.6249+12C>A
|
|
|
NM_001369.3(DNAH5):c.6249+14A>G
|
|
|
NM_001369.3(DNAH5):c.6250-11T>G
|
|
|
NM_001369.3(DNAH5):c.6250-12T>C
|
|
|
NM_001369.3(DNAH5):c.6250-18G>A
|
|
|
NM_001369.3(DNAH5):c.6250-19G>A
|
|
|
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.6265G>A (p.Gly2089Arg)
|
|
|
NM_001369.3(DNAH5):c.6267A>C (p.Gly2089=)
|
rs1457752082
|
|
NM_001369.3(DNAH5):c.6273G>A (p.Gln2091=)
|
|
|
NM_001369.3(DNAH5):c.6276A>G (p.Glu2092=)
|
rs2151835410
|
|
NM_001369.3(DNAH5):c.6282T>C (p.Pro2094=)
|
rs375699422
|
|
NM_001369.3(DNAH5):c.6291G>A (p.Leu2097=)
|
|
|
NM_001369.3(DNAH5):c.6297T>A (p.Ile2099=)
|
rs1763374034
|
|
NM_001369.3(DNAH5):c.6307T>C (p.Ser2103Pro)
|
|
|
NM_001369.3(DNAH5):c.6309A>C (p.Ser2103=)
|
|
|
NM_001369.3(DNAH5):c.630G>A (p.Leu210=)
|
rs1428658834
|
|
NM_001369.3(DNAH5):c.630G>C (p.Leu210=)
|
|
|
NM_001369.3(DNAH5):c.6315C>G (p.Ala2105=)
|
rs1275214512
|
|
NM_001369.3(DNAH5):c.6347G>A (p.Arg2116Lys)
|
|
|
NM_001369.3(DNAH5):c.6348G>A (p.Arg2116=)
|
|
|
NM_001369.3(DNAH5):c.6351G>C (p.Val2117=)
|
|
|
NM_001369.3(DNAH5):c.6355T>A (p.Leu2119Met)
|
|
|
NM_001369.3(DNAH5):c.6357G>A (p.Leu2119=)
|
|
|
NM_001369.3(DNAH5):c.6363T>C (p.Ser2121=)
|
|
|
NM_001369.3(DNAH5):c.636T>C (p.Gly212=)
|
|
|
NM_001369.3(DNAH5):c.6382G>A (p.Val2128Ile)
|
|
|
NM_001369.3(DNAH5):c.639A>G (p.Ala213=)
|
rs1428773142
|
|
NM_001369.3(DNAH5):c.6402T>C (p.Phe2134=)
|
|
|
NM_001369.3(DNAH5):c.6411C>G (p.Leu2137=)
|
|
|
NM_001369.3(DNAH5):c.6414C>T (p.Tyr2138=)
|
rs2151834981
|
|
NM_001369.3(DNAH5):c.6420G>T (p.Leu2140=)
|
rs2151834955
|
|
NM_001369.3(DNAH5):c.6428A>T (p.Glu2143Val)
|
|
|
NM_001369.3(DNAH5):c.642G>A (p.Gln214=)
|
rs746390393
|
|
NM_001369.3(DNAH5):c.6438T>C (p.Ser2146=)
|
|
|
NM_001369.3(DNAH5):c.6444+15A>T
|
|
|
NM_001369.3(DNAH5):c.6444+19C>G
|
|
|
NM_001369.3(DNAH5):c.6444+9del
|
rs2151834848
|
|
NM_001369.3(DNAH5):c.6445-10C>T
|
|
|
NM_001369.3(DNAH5):c.6445-14C>G
|
|
|
NM_001369.3(DNAH5):c.6445-19T>C
|
|
|
NM_001369.3(DNAH5):c.6445-4C>G
|
|
|
NM_001369.3(DNAH5):c.6445-5T>C
|
rs2151824083
|
|
NM_001369.3(DNAH5):c.6462C>A (p.Gly2154=)
|
|
|
NM_001369.3(DNAH5):c.6465G>A (p.Leu2155=)
|
rs1436835343
|
|
NM_001369.3(DNAH5):c.646A>G (p.Ser216Gly)
|
|
|
NM_001369.3(DNAH5):c.6471C>T (p.Asn2157=)
|
|
|
NM_001369.3(DNAH5):c.6474T>A (p.Ile2158=)
|
rs2151823969
|
|
NM_001369.3(DNAH5):c.6477G>A (p.Leu2159=)
|
|
|
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.6487C>T (p.Arg2163Trp)
|
|
|
NM_001369.3(DNAH5):c.6490A>G (p.Thr2164Ala)
|
|
|
NM_001369.3(DNAH5):c.6493T>C (p.Leu2165=)
|
|
|
NM_001369.3(DNAH5):c.64C>T (p.Leu22=)
|
rs2152009037
|
|
NM_001369.3(DNAH5):c.6501A>G (p.Ala2167=)
|
|
|
NM_001369.3(DNAH5):c.6510A>G (p.Arg2170=)
|
rs768106523
|
|
NM_001369.3(DNAH5):c.6517C>G (p.Pro2173Ala)
|
|
|
NM_001369.3(DNAH5):c.6527C>T (p.Thr2176Met)
|
|
|
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=)
|
|
|
NM_001369.3(DNAH5):c.6537G>A (p.Thr2179=)
|
|
|
NM_001369.3(DNAH5):c.6540T>C (p.Ile2180=)
|
|
|
NM_001369.3(DNAH5):c.6543C>T (p.Val2181=)
|
|
|
NM_001369.3(DNAH5):c.6547C>T (p.Arg2183Cys)
|
|
|
NM_001369.3(DNAH5):c.6548G>A (p.Arg2183His)
|
|
|
NM_001369.3(DNAH5):c.6552A>G (p.Val2184=)
|
|
|
NM_001369.3(DNAH5):c.6555A>G (p.Leu2185=)
|
rs2151823590
|
|
NM_001369.3(DNAH5):c.6557G>A (p.Arg2186Gln)
|
|
|
NM_001369.3(DNAH5):c.6558G>A (p.Arg2186=)
|
|
|
NM_001369.3(DNAH5):c.6570T>G (p.Leu2190=)
|
|
|
NM_001369.3(DNAH5):c.6573T>C (p.Ser2191=)
|
|
|
NM_001369.3(DNAH5):c.6577C>T (p.Leu2193=)
|
|
|
NM_001369.3(DNAH5):c.6579+15T>A
|
|
|
NM_001369.3(DNAH5):c.6579+18A>C
|
rs2151823432
|
|
NM_001369.3(DNAH5):c.6580-10del
|
|
|
NM_001369.3(DNAH5):c.6580-15A>C
|
|
|
NM_001369.3(DNAH5):c.6580-20T>G
|
|
|
NM_001369.3(DNAH5):c.6580-9T>G
|
rs2151821541
|
|
NM_001369.3(DNAH5):c.6582T>C (p.Ile2194=)
|
|
|
NM_001369.3(DNAH5):c.6591T>C (p.Asp2197=)
|
|
|
NM_001369.3(DNAH5):c.660+20T>C
|
|
|
NM_001369.3(DNAH5):c.660+7A>G
|
|
|
NM_001369.3(DNAH5):c.661-20T>C
|
|
|
NM_001369.3(DNAH5):c.661-5A>C
|
rs779368448
|
|
NM_001369.3(DNAH5):c.661-5A>T
|
|
|
NM_001369.3(DNAH5):c.661-8C>T
|
rs1227311322
|
|
NM_001369.3(DNAH5):c.661-9T>C
|
|
|
NM_001369.3(DNAH5):c.6612G>A (p.Leu2204=)
|
|
|
NM_001369.3(DNAH5):c.6618A>G (p.Glu2206=)
|
|
|
NM_001369.3(DNAH5):c.6632A>G (p.Asn2211Ser)
|
|
|
NM_001369.3(DNAH5):c.6639T>C (p.Leu2213=)
|
rs2151821349
|
|
NM_001369.3(DNAH5):c.6651A>G (p.Ala2217=)
|
|
|
NM_001369.3(DNAH5):c.6664C>A (p.Leu2222Met)
|
|
|
NM_001369.3(DNAH5):c.6666G>T (p.Leu2222=)
|
rs1762463272
|
|
NM_001369.3(DNAH5):c.6676A>G (p.Ile2226Val)
|
rs750936569
|
|
NM_001369.3(DNAH5):c.6682A>C (p.Arg2228=)
|
rs1762460445
|
|
NM_001369.3(DNAH5):c.6687+13A>G
|
|
|
NM_001369.3(DNAH5):c.6687+18G>T
|
|
|
NM_001369.3(DNAH5):c.6688-12T>C
|
|
|
NM_001369.3(DNAH5):c.6688-12T>G
|
|
|
NM_001369.3(DNAH5):c.6688-18A>G
|
|
|
NM_001369.3(DNAH5):c.6688-19G>T
|
|
|
NM_001369.3(DNAH5):c.6696A>G (p.Glu2232=)
|
rs910412533
|
|
NM_001369.3(DNAH5):c.6697G>A (p.Ala2233Thr)
|
|
|
NM_001369.3(DNAH5):c.66G>A (p.Leu22=)
|
rs1778385888
|
|
NM_001369.3(DNAH5):c.6714T>C (p.His2238=)
|
rs2151814481
|
|
NM_001369.3(DNAH5):c.6738C>T (p.Ile2246=)
|
rs1334947617
|
|
NM_001369.3(DNAH5):c.6756G>A (p.Gln2252=)
|
|
|
NM_001369.3(DNAH5):c.6757A>C (p.Arg2253=)
|
|
|
NM_001369.3(DNAH5):c.6762G>A (p.Val2254=)
|
|
|
NM_001369.3(DNAH5):c.6763C>A (p.Arg2255=)
|
rs745918507
|
|
NM_001369.3(DNAH5):c.6768T>C (p.His2256=)
|
|
|
NM_001369.3(DNAH5):c.6789_6790inv (p.Ser2264Gly)
|
|
|
NM_001369.3(DNAH5):c.6790A>G (p.Ser2264Gly)
|
|
|
NM_001369.3(DNAH5):c.6801G>C (p.Gly2267=)
|
|
|
NM_001369.3(DNAH5):c.6807C>T (p.Thr2269=)
|
rs2151814199
|
|
NM_001369.3(DNAH5):c.681C>T (p.Asp227=)
|
rs1580893733
|
|
NM_001369.3(DNAH5):c.682A>G (p.Ile228Val)
|
|
|
NM_001369.3(DNAH5):c.6831A>G (p.Arg2277=)
|
rs2151814113
|
|
NM_001369.3(DNAH5):c.6841+16G>A
|
|
|
NM_001369.3(DNAH5):c.6841+8G>A
|
rs775306219
|
|
NM_001369.3(DNAH5):c.6841+9C>A
|
|
|
NM_001369.3(DNAH5):c.6842-16G>T
|
|
|
NM_001369.3(DNAH5):c.6843T>C (p.Asp2281=)
|
rs767314487
|
|
NM_001369.3(DNAH5):c.6849A>G (p.Gly2283=)
|
rs774606797
|
|
NM_001369.3(DNAH5):c.6860G>A (p.Arg2287Gln)
|
|
|
NM_001369.3(DNAH5):c.6864A>G (p.Glu2288=)
|
|
|
NM_001369.3(DNAH5):c.6879C>T (p.Pro2293=)
|
rs1313742038
|
|
NM_001369.3(DNAH5):c.6885G>C (p.Ala2295=)
|
rs762437869
|
|
NM_001369.3(DNAH5):c.68A>G (p.Lys23Arg)
|
|
|
NM_001369.3(DNAH5):c.6900G>A (p.Gln2300=)
|
rs745471071
|
|
NM_001369.3(DNAH5):c.6906T>C (p.Phe2302=)
|
|
|
NM_001369.3(DNAH5):c.6910C>A (p.Arg2304=)
|
rs537125100
|
|
NM_001369.3(DNAH5):c.6910C>T (p.Arg2304Trp)
|
|
|
NM_001369.3(DNAH5):c.6942T>C (p.Asp2314=)
|
|
|
NM_001369.3(DNAH5):c.6964A>C (p.Arg2322=)
|
|
|
NM_001369.3(DNAH5):c.6972A>G (p.Thr2324=)
|
rs563452863
|
|
NM_001369.3(DNAH5):c.6980C>A (p.Ala2327Glu)
|
|
|
NM_001369.3(DNAH5):c.6988+13T>C
|
|
|
NM_001369.3(DNAH5):c.6988+18A>T
|
|
|
NM_001369.3(DNAH5):c.6988+19G>T
|
|
|
NM_001369.3(DNAH5):c.6988+9T>C
|
rs2151806939
|
|
NM_001369.3(DNAH5):c.6989-10G>T
|
|
|
NM_001369.3(DNAH5):c.6989-18T>C
|
rs2151800885
|
|
NM_001369.3(DNAH5):c.6989-4C>T
|
|
|
NM_001369.3(DNAH5):c.6989-6T>C
|
|
|
NM_001369.3(DNAH5):c.6989-7_6989-5dup
|
rs1460888052
|
|
NM_001369.3(DNAH5):c.6989-9G>T
|
rs1761233197
|
|
NM_001369.3(DNAH5):c.6990G>C (p.Gly2330=)
|
|
|
NM_001369.3(DNAH5):c.6996T>C (p.His2332=)
|
|
|
NM_001369.3(DNAH5):c.6T>C (p.Phe2=)
|
rs1779749420
|
|
NM_001369.3(DNAH5):c.7011T>C (p.Leu2337=)
|
rs2151800755
|
|
NM_001369.3(DNAH5):c.7018C>A (p.Pro2340Thr)
|
|
|
NM_001369.3(DNAH5):c.7023A>G (p.Val2341=)
|
rs2151800727
|
|
NM_001369.3(DNAH5):c.7044T>C (p.Asn2348=)
|
rs2151800646
|
|
NM_001369.3(DNAH5):c.705G>A (p.Lys235=)
|
|
|
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.7104C>T (p.Pro2368=)
|
rs1561333047
|
|
NM_001369.3(DNAH5):c.7110T>A (p.Ala2370=)
|
|
|
NM_001369.3(DNAH5):c.7125C>T (p.Ile2375=)
|
|
|
NM_001369.3(DNAH5):c.7143C>T (p.Asn2381=)
|
rs148062042
|
|
NM_001369.3(DNAH5):c.7146T>C (p.Ile2382=)
|
|
|
NM_001369.3(DNAH5):c.7149C>T (p.Asp2383=)
|
rs2151800283
|
|
NM_001369.3(DNAH5):c.714G>A (p.Thr238=)
|
|
|
NM_001369.3(DNAH5):c.7167C>G (p.Thr2389=)
|
rs377435331
|
|
NM_001369.3(DNAH5):c.7168G>A (p.Val2390Ile)
|
|
|
NM_001369.3(DNAH5):c.7173A>G (p.Ser2391=)
|
|
|
NM_001369.3(DNAH5):c.7179T>C (p.Asn2393=)
|
|
|
NM_001369.3(DNAH5):c.7200T>G (p.Ser2400=)
|
rs2151800106
|
|
NM_001369.3(DNAH5):c.7206C>A (p.Ile2402=)
|
rs747529694
|
|
NM_001369.3(DNAH5):c.7212T>C (p.Asp2404=)
|
rs876657454
|
|
NM_001369.3(DNAH5):c.7230+10A>T
|
rs2151800023
|
|
NM_001369.3(DNAH5):c.7230+17C>G
|
|
|
NM_001369.3(DNAH5):c.7230+20T>C
|
|
|
NM_001369.3(DNAH5):c.7230+8T>C
|
|
|
NM_001369.3(DNAH5):c.7231-5G>T
|
rs2127027842
|
|
NM_001369.3(DNAH5):c.7231-9A>C
|
rs945527843
|
|
NM_001369.3(DNAH5):c.7231-9_7231-8inv
|
|
|
NM_001369.3(DNAH5):c.7233T>C (p.Gly2411=)
|
rs2127027813
|
|
NM_001369.3(DNAH5):c.7251A>G (p.Ser2417=)
|
|
|
NM_001369.3(DNAH5):c.7263A>C (p.Ala2421=)
|
rs2127027512
|
|
NM_001369.3(DNAH5):c.7273C>T (p.Arg2425Cys)
|
|
|
NM_001369.3(DNAH5):c.7278G>A (p.Gln2426=)
|
|
|
NM_001369.3(DNAH5):c.7284C>T (p.Tyr2428=)
|
|
|
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.7287C>T (p.Thr2429=)
|
|
|
NM_001369.3(DNAH5):c.7288G>A (p.Glu2430Lys)
|
|
|
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=)
|
|
|
NM_001369.3(DNAH5):c.7309C>G (p.Arg2437Gly)
|
rs201469471
|
|
NM_001369.3(DNAH5):c.7310G>A (p.Arg2437His)
|
|
|
NM_001369.3(DNAH5):c.7320C>T (p.Ile2440=)
|
|
|
NM_001369.3(DNAH5):c.7335C>T (p.Tyr2445=)
|
rs2127026828
|
|
NM_001369.3(DNAH5):c.7355C>T (p.Ala2452Val)
|
|
|
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.7380C>T (p.Asn2460=)
|
|
|
NM_001369.3(DNAH5):c.7391G>A (p.Gly2464Asp)
|
|
|
NM_001369.3(DNAH5):c.7392C>G (p.Gly2464=)
|
rs2127026199
|
|
NM_001369.3(DNAH5):c.7407+11C>T
|
|
|
NM_001369.3(DNAH5):c.7407+13A>C
|
|
|
NM_001369.3(DNAH5):c.7407+13A>G
|
|
|
NM_001369.3(DNAH5):c.7407+15T>C
|
|
|
NM_001369.3(DNAH5):c.7407+18C>G
|
|
|
NM_001369.3(DNAH5):c.7407+7T>G
|
rs371481233
|
|
NM_001369.3(DNAH5):c.7407+9C>T
|
|
|
NM_001369.3(DNAH5):c.7408-13C>A
|
|
|
NM_001369.3(DNAH5):c.7408-13C>G
|
|
|
NM_001369.3(DNAH5):c.7408-16T>C
|
|
|
NM_001369.3(DNAH5):c.7408-16T>G
|
|
|
NM_001369.3(DNAH5):c.7408-17G>C
|
|
|
NM_001369.3(DNAH5):c.7408-20A>G
|
|
|
NM_001369.3(DNAH5):c.7408-8C>T
|
rs2127015660
|
|
NM_001369.3(DNAH5):c.7408-9C>T
|
|
|
NM_001369.3(DNAH5):c.7410G>A (p.Glu2470=)
|
|
|
NM_001369.3(DNAH5):c.7416C>G (p.Gly2472=)
|
|
|
NM_001369.3(DNAH5):c.7417G>A (p.Gly2473Arg)
|
|
|
NM_001369.3(DNAH5):c.7419G>T (p.Gly2473=)
|
|
|
NM_001369.3(DNAH5):c.7422G>A (p.Glu2474=)
|
rs1471304675
|
|
NM_001369.3(DNAH5):c.7446G>A (p.Arg2482=)
|
rs760905001
|
|
NM_001369.3(DNAH5):c.7452C>T (p.Phe2484=)
|
rs561666802
|
|
NM_001369.3(DNAH5):c.7455G>T (p.Val2485=)
|
|
|
NM_001369.3(DNAH5):c.7458C>T (p.Phe2486=)
|
rs1554058794
|
|
NM_001369.3(DNAH5):c.7459G>A (p.Ala2487Thr)
|
|
|
NM_001369.3(DNAH5):c.7461G>T (p.Ala2487=)
|
|
|
NM_001369.3(DNAH5):c.7473C>T (p.Ser2491=)
|
|
|
NM_001369.3(DNAH5):c.7476G>A (p.Ala2492=)
|
|
|
NM_001369.3(DNAH5):c.7482G>A (p.Ala2494=)
|
|
|
NM_001369.3(DNAH5):c.7482G>C (p.Ala2494=)
|
|
|
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.7498G>A (p.Gly2500Arg)
|
|
|
NM_001369.3(DNAH5):c.7500A>G (p.Gly2500=)
|
|
|
NM_001369.3(DNAH5):c.7500A>T (p.Gly2500=)
|
|
|
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.7518C>G (p.Leu2506=)
|
rs1363845512
|
|
NM_001369.3(DNAH5):c.7518C>T (p.Leu2506=)
|
|
|
NM_001369.3(DNAH5):c.7524G>C (p.Leu2508=)
|
|
|
NM_001369.3(DNAH5):c.7525C>T (p.Arg2509Cys)
|
rs531393117
|
|
NM_001369.3(DNAH5):c.7527C>T (p.Arg2509=)
|
rs2127014131
|
|
NM_001369.3(DNAH5):c.7535C>G (p.Pro2512Arg)
|
|
|
NM_001369.3(DNAH5):c.7541G>T (p.Gly2514Val)
|
|
|
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>T (p.Leu2518=)
|
|
|
NM_001369.3(DNAH5):c.7554G>A (p.Leu2518=)
|
rs767778348
|
|
NM_001369.3(DNAH5):c.7559C>T (p.Pro2520Leu)
|
|
|
NM_001369.3(DNAH5):c.7560G>A (p.Pro2520=)
|
|
|
NM_001369.3(DNAH5):c.7563A>G (p.Pro2521=)
|
rs1760382725
|
|
NM_001369.3(DNAH5):c.7566G>A (p.Ala2522=)
|
|
|
NM_001369.3(DNAH5):c.7566G>C (p.Ala2522=)
|
rs774555838
|
|
NM_001369.3(DNAH5):c.7568G>A (p.Gly2523Glu)
|
|
|
NM_001369.3(DNAH5):c.7571C>T (p.Pro2524Leu)
|
|
|
NM_001369.3(DNAH5):c.7572C>T (p.Pro2524=)
|
|
|
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.7587C>T (p.Phe2529=)
|
|
|
NM_001369.3(DNAH5):c.7593C>T (p.Tyr2531=)
|
|
|
NM_001369.3(DNAH5):c.7596T>C (p.Tyr2532=)
|
rs920106420
|
|
NM_001369.3(DNAH5):c.7599G>T (p.Val2533=)
|
rs2127012872
|
|
NM_001369.3(DNAH5):c.7602G>A (p.Ala2534=)
|
rs770309996
|
|
NM_001369.3(DNAH5):c.7609+10C>T
|
rs2127012668
|
|
NM_001369.3(DNAH5):c.7609+13G>T
|
|
|
NM_001369.3(DNAH5):c.7609+15C>G
|
|
|
NM_001369.3(DNAH5):c.7609+16C>T
|
|
|
NM_001369.3(DNAH5):c.7609+17G>A
|
|
|
NM_001369.3(DNAH5):c.7609+18T>A
|
|
|
NM_001369.3(DNAH5):c.7609+8C>T
|
|
|
NM_001369.3(DNAH5):c.7610-11G>C
|
|
|
NM_001369.3(DNAH5):c.7610-13C>T
|
|
|
NM_001369.3(DNAH5):c.7610-19T>C
|
|
|
NM_001369.3(DNAH5):c.7610-20A>T
|
|
|
NM_001369.3(DNAH5):c.7610-5C>T
|
rs1580357237
|
|
NM_001369.3(DNAH5):c.7614A>C (p.Thr2538=)
|
rs756112960
|
|
NM_001369.3(DNAH5):c.7614A>G (p.Thr2538=)
|
|
|
NM_001369.3(DNAH5):c.7614A>T (p.Thr2538=)
|
rs756112960
|
|
NM_001369.3(DNAH5):c.7619C>T (p.Thr2540Met)
|
|
|
NM_001369.3(DNAH5):c.762G>A (p.Glu254=)
|
|
|
NM_001369.3(DNAH5):c.7631C>T (p.Thr2544Met)
|
|
|
NM_001369.3(DNAH5):c.7633C>T (p.Arg2545Cys)
|
|
|
NM_001369.3(DNAH5):c.7638C>G (p.Thr2546=)
|
rs2127007001
|
|
NM_001369.3(DNAH5):c.7644A>G (p.Glu2548=)
|
|
|
NM_001369.3(DNAH5):c.7647C>T (p.Tyr2549=)
|
|
|
NM_001369.3(DNAH5):c.7650G>C (p.Leu2550=)
|
|
|
NM_001369.3(DNAH5):c.7653T>C (p.Tyr2551=)
|
|
|
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=)
|
|
|
NM_001369.3(DNAH5):c.7668C>T (p.Thr2556=)
|
|
|
NM_001369.3(DNAH5):c.7674G>A (p.Glu2558=)
|
rs1760165089
|
|
NM_001369.3(DNAH5):c.7677T>C (p.Tyr2559=)
|
|
|
NM_001369.3(DNAH5):c.7683T>C (p.Ser2561=)
|
|
|
NM_001369.3(DNAH5):c.7687C>T (p.Leu2563=)
|
|
|
NM_001369.3(DNAH5):c.7692G>A (p.Val2564=)
|
|
|
NM_001369.3(DNAH5):c.7695A>G (p.Pro2565=)
|
|
|
NM_001369.3(DNAH5):c.769A>G (p.Met257Val)
|
|
|
NM_001369.3(DNAH5):c.7707T>C (p.Asn2569=)
|
rs1760158475
|
|
NM_001369.3(DNAH5):c.7725A>G (p.Leu2575=)
|
|
|
NM_001369.3(DNAH5):c.7735A>G (p.Ile2579Val)
|
|
|
NM_001369.3(DNAH5):c.7737T>C (p.Ile2579=)
|
|
|
NM_001369.3(DNAH5):c.7738G>A (p.Ala2580Thr)
|
|
|
NM_001369.3(DNAH5):c.7746G>A (p.Gln2582=)
|
rs1396143112
|
|
NM_001369.3(DNAH5):c.7752+11T>C
|
|
|
NM_001369.3(DNAH5):c.7752+14T>C
|
|
|
NM_001369.3(DNAH5):c.7753-11C>A
|
|
|
NM_001369.3(DNAH5):c.7753-16A>T
|
|
|
NM_001369.3(DNAH5):c.7753-18C>G
|
|
|
NM_001369.3(DNAH5):c.7753-9del
|
rs2126997386
|
|
NM_001369.3(DNAH5):c.7773A>G (p.Glu2591=)
|
|
|
NM_001369.3(DNAH5):c.777A>G (p.Val259=)
|
rs1580893242
|
|
NM_001369.3(DNAH5):c.7797A>C (p.Ile2599=)
|
|
|
NM_001369.3(DNAH5):c.7800T>G (p.Ile2600Met)
|
|
|
NM_001369.3(DNAH5):c.7806A>T (p.Gly2602=)
|
|
|
NM_001369.3(DNAH5):c.7830A>G (p.Glu2610=)
|
rs1446485303
|
|
NM_001369.3(DNAH5):c.7863T>C (p.Ser2621=)
|
rs2126996520
|
|
NM_001369.3(DNAH5):c.7866A>G (p.Ala2622=)
|
|
|
NM_001369.3(DNAH5):c.7870A>G (p.Thr2624Ala)
|
|
|
NM_001369.3(DNAH5):c.7875A>G (p.Pro2625=)
|
rs1759827098
|
|
NM_001369.3(DNAH5):c.7878G>A (p.Leu2626=)
|
|
|
NM_001369.3(DNAH5):c.7884C>T (p.Phe2628=)
|
|
|
NM_001369.3(DNAH5):c.7887+10C>G
|
|
|
NM_001369.3(DNAH5):c.7887+16T>A
|
|
|
NM_001369.3(DNAH5):c.7887+7G>A
|
|
|
NM_001369.3(DNAH5):c.7887+8C>A
|
rs1759820258
|
|
NM_001369.3(DNAH5):c.7888-11T>C
|
|
|
NM_001369.3(DNAH5):c.7888-14T>C
|
|
|
NM_001369.3(DNAH5):c.7888-15A>G
|
|
|
NM_001369.3(DNAH5):c.7888-18T>C
|
|
|
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
|
|
|
NM_001369.3(DNAH5):c.7890G>A (p.Arg2630=)
|
rs2126914337
|
|
NM_001369.3(DNAH5):c.7893G>T (p.Thr2631=)
|
|
|
NM_001369.3(DNAH5):c.7902C>T (p.Ser2634=)
|
|
|
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.7923T>G (p.Gly2641=)
|
rs748304927
|
|
NM_001369.3(DNAH5):c.7926A>G (p.Thr2642=)
|
rs771128631
|
|
NM_001369.3(DNAH5):c.7929A>G (p.Thr2643=)
|
|
|
NM_001369.3(DNAH5):c.7929A>T (p.Thr2643=)
|
|
|
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.7935C>A (p.Gly2645=)
|
rs780409299
|
|
NM_001369.3(DNAH5):c.7944G>A (p.Ala2648=)
|
|
|
NM_001369.3(DNAH5):c.7950G>A (p.Lys2650=)
|
rs1229236281
|
|
NM_001369.3(DNAH5):c.795A>G (p.Glu265=)
|
|
|
NM_001369.3(DNAH5):c.7965T>C (p.Phe2655=)
|
rs2126913602
|
|
NM_001369.3(DNAH5):c.7971T>C (p.Asp2657=)
|
rs1757438475
|
|
NM_001369.3(DNAH5):c.798+14del
|
|
|
NM_001369.3(DNAH5):c.798+16C>G
|
|
|
NM_001369.3(DNAH5):c.798+18A>C
|
|
|
NM_001369.3(DNAH5):c.799-10G>A
|
|
|
NM_001369.3(DNAH5):c.799-10G>C
|
rs750556389
|
|
NM_001369.3(DNAH5):c.799-12G>A
|
|
|
NM_001369.3(DNAH5):c.799-13C>T
|
|
|
NM_001369.3(DNAH5):c.799-15C>T
|
|
|
NM_001369.3(DNAH5):c.799-16C>T
|
|
|
NM_001369.3(DNAH5):c.799-18T>C
|
|
|
NM_001369.3(DNAH5):c.799-4G>A
|
|
|
NM_001369.3(DNAH5):c.7992C>T (p.Ile2664=)
|
|
|
NM_001369.3(DNAH5):c.7998G>A (p.Glu2666=)
|
|
|
NM_001369.3(DNAH5):c.7A>C (p.Arg3=)
|
|
|
NM_001369.3(DNAH5):c.8010+12C>A
|
|
|
NM_001369.3(DNAH5):c.8010+14A>G
|
|
|
NM_001369.3(DNAH5):c.8010+14A>T
|
|
|
NM_001369.3(DNAH5):c.8010+15T>C
|
|
|
NM_001369.3(DNAH5):c.8010+15T>G
|
|
|
NM_001369.3(DNAH5):c.8010+19G>A
|
|
|
NM_001369.3(DNAH5):c.8010+8_8010+10del
|
|
|
NM_001369.3(DNAH5):c.8011-10T>C
|
|
|
NM_001369.3(DNAH5):c.8011-18G>A
|
|
|
NM_001369.3(DNAH5):c.8011-4G>A
|
rs1331845041
|
|
NM_001369.3(DNAH5):c.8011-6T>C
|
|
|
NM_001369.3(DNAH5):c.8011-9C>G
|
|
|
NM_001369.3(DNAH5):c.8011-9C>T
|
|
|
NM_001369.3(DNAH5):c.8016G>T (p.Thr2672=)
|
|
|
NM_001369.3(DNAH5):c.8046A>G (p.Gln2682=)
|
|
|
NM_001369.3(DNAH5):c.8052A>G (p.Gly2684=)
|
rs1757373857
|
|
NM_001369.3(DNAH5):c.8059A>G (p.Asn2687Asp)
|
|
|
NM_001369.3(DNAH5):c.8086A>G (p.Ser2696Gly)
|
|
|
NM_001369.3(DNAH5):c.8092G>A (p.Val2698Met)
|
|
|
NM_001369.3(DNAH5):c.8094G>C (p.Val2698=)
|
|
|
NM_001369.3(DNAH5):c.8097C>T (p.Asp2699=)
|
|
|
NM_001369.3(DNAH5):c.8109G>A (p.Leu2703=)
|
|
|
NM_001369.3(DNAH5):c.8112A>G (p.Ala2704=)
|
rs1757361572
|
|
NM_001369.3(DNAH5):c.8121C>T (p.Ile2707=)
|
|
|
NM_001369.3(DNAH5):c.8127T>C (p.Pro2709=)
|
rs1181593041
|
|
NM_001369.3(DNAH5):c.8133T>G (p.Gly2711=)
|
rs2126910344
|
|
NM_001369.3(DNAH5):c.8145C>T (p.Asp2715=)
|
|
|
NM_001369.3(DNAH5):c.8149C>T (p.Pro2717Ser)
|
|
|
NM_001369.3(DNAH5):c.8166G>A (p.Arg2722=)
|
rs2126910081
|
|
NM_001369.3(DNAH5):c.8170T>C (p.Phe2724Leu)
|
|
|
NM_001369.3(DNAH5):c.8176A>G (p.Ile2726Val)
|
|
|
NM_001369.3(DNAH5):c.8181T>C (p.Phe2727=)
|
|
|
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)
|
|
|
NM_001369.3(DNAH5):c.8214C>T (p.Asp2738=)
|
|
|
NM_001369.3(DNAH5):c.8217G>A (p.Lys2739=)
|
rs375287005
|
|
NM_001369.3(DNAH5):c.8224+13A>G
|
|
|
NM_001369.3(DNAH5):c.8224+14G>C
|
|
|
NM_001369.3(DNAH5):c.8224+17T>G
|
|
|
NM_001369.3(DNAH5):c.8224+20G>C
|
|
|
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
|
|
|
NM_001369.3(DNAH5):c.8225-18T>C
|
|
|
NM_001369.3(DNAH5):c.8225-6T>C
|
rs935438135
|
|
NM_001369.3(DNAH5):c.8225-6T>G
|
|
|
NM_001369.3(DNAH5):c.8238A>G (p.Val2746=)
|
|
|
NM_001369.3(DNAH5):c.8256G>C (p.Gln2752His)
|
|
|
NM_001369.3(DNAH5):c.825G>A (p.Leu275=)
|
|
|
NM_001369.3(DNAH5):c.8261G>A (p.Gly2754Asp)
|
|
|
NM_001369.3(DNAH5):c.8277G>A (p.Val2759=)
|
|
|
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.828G>A (p.Lys276=)
|
|
|
NM_001369.3(DNAH5):c.8301G>A (p.Val2767=)
|
|
|
NM_001369.3(DNAH5):c.8301G>T (p.Val2767=)
|
|
|
NM_001369.3(DNAH5):c.8307G>T (p.Leu2769=)
|
|
|
NM_001369.3(DNAH5):c.8316A>G (p.Arg2772=)
|
rs751595453
|
|
NM_001369.3(DNAH5):c.8319A>G (p.Leu2773=)
|
|
|
NM_001369.3(DNAH5):c.8331C>T (p.Thr2777=)
|
|
|
NM_001369.3(DNAH5):c.8333A>G (p.Lys2778Arg)
|
|
|
NM_001369.3(DNAH5):c.8334G>A (p.Lys2778=)
|
|
|
NM_001369.3(DNAH5):c.833C>T (p.Ala278Val)
|
|
|
NM_001369.3(DNAH5):c.834G>T (p.Ala278=)
|
|
|
NM_001369.3(DNAH5):c.8370T>C (p.Tyr2790=)
|
|
|
NM_001369.3(DNAH5):c.8373G>T (p.Val2791=)
|
|
|
NM_001369.3(DNAH5):c.837T>C (p.Asp279=)
|
|
|
NM_001369.3(DNAH5):c.8388T>C (p.Asp2796=)
|
rs1580265726
|
|
NM_001369.3(DNAH5):c.8395C>T (p.Arg2799Trp)
|
|
|
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=)
|
|
|
NM_001369.3(DNAH5):c.8409A>G (p.Gly2803=)
|
rs2126899765
|
|
NM_001369.3(DNAH5):c.8434A>G (p.Ile2812Val)
|
|
|
NM_001369.3(DNAH5):c.843T>C (p.Val281=)
|
|
|
NM_001369.3(DNAH5):c.8442A>G (p.Glu2814=)
|
|
|
NM_001369.3(DNAH5):c.8448+10A>G
|
rs2126899431
|
|
NM_001369.3(DNAH5):c.8448+11C>T
|
|
|
NM_001369.3(DNAH5):c.8448+12T>C
|
|
|
NM_001369.3(DNAH5):c.8448+15A>G
|
|
|
NM_001369.3(DNAH5):c.8448+8A>G
|
rs1390893492
|
|
NM_001369.3(DNAH5):c.8449-13A>G
|
|
|
NM_001369.3(DNAH5):c.8449-14T>C
|
|
|
NM_001369.3(DNAH5):c.8449-6C>T
|
rs2126883185
|
|
NM_001369.3(DNAH5):c.8449-7T>C
|
rs2126883195
|
|
NM_001369.3(DNAH5):c.8460G>A (p.Lys2820=)
|
rs779140703
|
|
NM_001369.3(DNAH5):c.8461C>T (p.Leu2821=)
|
|
|
NM_001369.3(DNAH5):c.8469G>A (p.Lys2823=)
|
|
|
NM_001369.3(DNAH5):c.846G>T (p.Gly282=)
|
rs748702437
|
|
NM_001369.3(DNAH5):c.8483G>A (p.Arg2828His)
|
|
|
NM_001369.3(DNAH5):c.8496C>T (p.Asp2832=)
|
rs2126882852
|
|
NM_001369.3(DNAH5):c.849A>T (p.Pro283=)
|
rs1776999589
|
|
NM_001369.3(DNAH5):c.8537C>T (p.Ala2846Val)
|
|
|
NM_001369.3(DNAH5):c.8544A>C (p.Val2848=)
|
|
|
NM_001369.3(DNAH5):c.854C>T (p.Ala285Val)
|
|
|
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.8566G>A (p.Gly2856Ser)
|
|
|
NM_001369.3(DNAH5):c.8568T>C (p.Gly2856=)
|
|
|
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.8580A>G (p.Lys2860=)
|
rs2126882315
|
|
NM_001369.3(DNAH5):c.8583C>G (p.Leu2861=)
|
rs951265451
|
|
NM_001369.3(DNAH5):c.8584T>C (p.Leu2862=)
|
|
|
NM_001369.3(DNAH5):c.8589G>A (p.Val2863=)
|
rs760542094
|
|
NM_001369.3(DNAH5):c.859C>T (p.Leu287=)
|
|
|
NM_001369.3(DNAH5):c.8607A>G (p.Thr2869=)
|
|
|
NM_001369.3(DNAH5):c.8610T>C (p.Tyr2870=)
|
rs1277735188
|
|
NM_001369.3(DNAH5):c.8631T>C (p.Asp2877=)
|
|
|
NM_001369.3(DNAH5):c.8637T>C (p.Pro2879=)
|
|
|
NM_001369.3(DNAH5):c.8643T>C (p.Ala2881=)
|
rs1756474070
|
|
NM_001369.3(DNAH5):c.8647+8A>C
|
|
|
NM_001369.3(DNAH5):c.8648-13T>C
|
|
|
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=)
|
|
|
NM_001369.3(DNAH5):c.8706T>C (p.Ser2902=)
|
|
|
NM_001369.3(DNAH5):c.8715C>T (p.His2905=)
|
|
|
NM_001369.3(DNAH5):c.8721A>G (p.Lys2907=)
|
rs2126869301
|
|
NM_001369.3(DNAH5):c.8724G>A (p.Glu2908=)
|
|
|
NM_001369.3(DNAH5):c.8730G>A (p.Leu2910=)
|
|
|
NM_001369.3(DNAH5):c.8732A>G (p.Asn2911Ser)
|
|
|
NM_001369.3(DNAH5):c.8739C>T (p.Phe2913=)
|
rs376250319
|
|
NM_001369.3(DNAH5):c.8742G>A (p.Leu2914=)
|
rs2126869139
|
|
NM_001369.3(DNAH5):c.8744A>G (p.Gln2915Arg)
|
|
|
NM_001369.3(DNAH5):c.8745G>A (p.Gln2915=)
|
|
|
NM_001369.3(DNAH5):c.8748C>G (p.Leu2916=)
|
rs556119081
|
|
NM_001369.3(DNAH5):c.8750A>C (p.Tyr2917Ser)
|
|
|
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.8764C>T (p.Arg2922Cys)
|
|
|
NM_001369.3(DNAH5):c.876A>C (p.Lys292Asn)
|
|
|
NM_001369.3(DNAH5):c.8770G>A (p.Ala2924Thr)
|
|
|
NM_001369.3(DNAH5):c.8772C>G (p.Ala2924=)
|
|
|
NM_001369.3(DNAH5):c.8773G>A (p.Gly2925Ser)
|
|
|
NM_001369.3(DNAH5):c.8775C>G (p.Gly2925=)
|
rs2126868777
|
|
NM_001369.3(DNAH5):c.8781C>T (p.Asp2927=)
|
rs2126868696
|
|
NM_001369.3(DNAH5):c.8782A>G (p.Met2928Val)
|
|
|
NM_001369.3(DNAH5):c.8787G>A (p.Val2929=)
|
rs2126868656
|
|
NM_001369.3(DNAH5):c.8799T>A (p.Asp2933Glu)
|
|
|
NM_001369.3(DNAH5):c.8799T>C (p.Asp2933=)
|
|
|
NM_001369.3(DNAH5):c.87G>A (p.Lys29=)
|
|
|
NM_001369.3(DNAH5):c.8803A>G (p.Met2935Val)
|
|
|
NM_001369.3(DNAH5):c.8808T>G (p.Val2936=)
|
rs2126868492
|
|
NM_001369.3(DNAH5):c.8811C>T (p.His2937=)
|
|
|
NM_001369.3(DNAH5):c.8814A>G (p.Leu2938=)
|
|
|
NM_001369.3(DNAH5):c.8820+11C>A
|
|
|
NM_001369.3(DNAH5):c.8820+12A>G
|
|
|
NM_001369.3(DNAH5):c.8820+13C>G
|
|
|
NM_001369.3(DNAH5):c.8820+13C>T
|
|
|
NM_001369.3(DNAH5):c.8820+15C>G
|
|
|
NM_001369.3(DNAH5):c.8820+8A>G
|
|
|
NM_001369.3(DNAH5):c.8821-14G>A
|
rs769508388
|
|
NM_001369.3(DNAH5):c.8821-16C>T
|
|
|
NM_001369.3(DNAH5):c.8821-5T>C
|
rs368465529
|
|
NM_001369.3(DNAH5):c.8821-8T>A
|
|
|
NM_001369.3(DNAH5):c.8821-9A>G
|
|
|
NM_001369.3(DNAH5):c.8823C>A (p.Ile2941=)
|
|
|
NM_001369.3(DNAH5):c.8832C>T (p.Val2944=)
|
rs1457090586
|
|
NM_001369.3(DNAH5):c.8835T>G (p.Ile2945Met)
|
|
|
NM_001369.3(DNAH5):c.8841T>C (p.Thr2947=)
|
|
|
NM_001369.3(DNAH5):c.8843C>T (p.Pro2948Leu)
|
rs922452029
|
|
NM_001369.3(DNAH5):c.8847G>A (p.Gln2949=)
|
|
|
NM_001369.3(DNAH5):c.884C>A (p.Ser295Tyr)
|
rs375537280
|
|
NM_001369.3(DNAH5):c.8850A>G (p.Gly2950=)
|
|
|
NM_001369.3(DNAH5):c.8863G>A (p.Val2955Ile)
|
|
|
NM_001369.3(DNAH5):c.8863G>C (p.Val2955Leu)
|
|
|
NM_001369.3(DNAH5):c.886A>G (p.Lys296Glu)
|
|
|
NM_001369.3(DNAH5):c.8880A>C (p.Ser2960=)
|
|
|
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.8902T>C (p.Leu2968=)
|
|
|
NM_001369.3(DNAH5):c.892A>G (p.Asn298Asp)
|
|
|
NM_001369.3(DNAH5):c.894C>T (p.Asn298=)
|
|
|
NM_001369.3(DNAH5):c.8951+11T>A
|
|
|
NM_001369.3(DNAH5):c.8951+14A>G
|
|
|
NM_001369.3(DNAH5):c.8951+15C>T
|
|
|
NM_001369.3(DNAH5):c.8951+16T>A
|
|
|
NM_001369.3(DNAH5):c.8951+18T>C
|
|
|
NM_001369.3(DNAH5):c.8951+7A>G
|
|
|
NM_001369.3(DNAH5):c.8951+8C>G
|
|
|
NM_001369.3(DNAH5):c.8951+9del
|
rs2126836632
|
|
NM_001369.3(DNAH5):c.8952-11T>C
|
|
|
NM_001369.3(DNAH5):c.8952-6C>T
|
rs2126814564
|
|
NM_001369.3(DNAH5):c.8961C>T (p.Asn2987=)
|
rs973106947
|
|
NM_001369.3(DNAH5):c.8964A>G (p.Thr2988=)
|
rs773867466
|
|
NM_001369.3(DNAH5):c.8971C>T (p.Leu2991=)
|
rs1754249932
|
|
NM_001369.3(DNAH5):c.8973G>A (p.Leu2991=)
|
|
|
NM_001369.3(DNAH5):c.8977G>C (p.Glu2993Gln)
|
|
|
NM_001369.3(DNAH5):c.8988G>A (p.Lys2996=)
|
|
|
NM_001369.3(DNAH5):c.898C>A (p.Leu300Ile)
|
|
|
NM_001369.3(DNAH5):c.8994G>A (p.Leu2998=)
|
rs555690882
|
|
NM_001369.3(DNAH5):c.9003A>G (p.Thr3001=)
|
rs2126814142
|
|
NM_001369.3(DNAH5):c.9009T>C (p.Gly3003=)
|
|
|
NM_001369.3(DNAH5):c.9022G>A (p.Gly3008Arg)
|
|
|
NM_001369.3(DNAH5):c.9027C>G (p.Ile3009Met)
|
|
|
NM_001369.3(DNAH5):c.9048T>C (p.Asn3016=)
|
rs1580180346
|
|
NM_001369.3(DNAH5):c.9066A>G (p.Ser3022=)
|
rs2126813671
|
|
NM_001369.3(DNAH5):c.9070T>C (p.Leu3024=)
|
|
|
NM_001369.3(DNAH5):c.9078T>C (p.Tyr3026=)
|
rs2126813598
|
|
NM_001369.3(DNAH5):c.90G>A (p.Arg30=)
|
|
|
NM_001369.3(DNAH5):c.9102T>C (p.Gly3034=)
|
|
|
NM_001369.3(DNAH5):c.9105+10C>T
|
|
|
NM_001369.3(DNAH5):c.9105+19T>C
|
|
|
NM_001369.3(DNAH5):c.9105+7G>A
|
|
|
NM_001369.3(DNAH5):c.9105+8C>T
|
rs2126813474
|
|
NM_001369.3(DNAH5):c.9106-15G>A
|
|
|
NM_001369.3(DNAH5):c.9106-17C>T
|
|
|
NM_001369.3(DNAH5):c.9106-20T>C
|
|
|
NM_001369.3(DNAH5):c.9106-4T>A
|
rs2126811393
|
|
NM_001369.3(DNAH5):c.9106-6T>C
|
|
|
NM_001369.3(DNAH5):c.9117A>G (p.Leu3039=)
|
rs753648161
|
|
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.9125G>A (p.Arg3042Gln)
|
rs200839716
|
|
NM_001369.3(DNAH5):c.9125G>T (p.Arg3042Leu)
|
|
|
NM_001369.3(DNAH5):c.9147T>C (p.Asn3049=)
|
rs886038481
|
|
NM_001369.3(DNAH5):c.9156G>A (p.Leu3052=)
|
|
|
NM_001369.3(DNAH5):c.9159A>C (p.Ala3053=)
|
|
|
NM_001369.3(DNAH5):c.9159A>G (p.Ala3053=)
|
|
|
NM_001369.3(DNAH5):c.9160T>A (p.Ser3054Thr)
|
|
|
NM_001369.3(DNAH5):c.9165C>T (p.Val3055=)
|
rs1580177053
|
|
NM_001369.3(DNAH5):c.9183C>T (p.Pro3061=)
|
rs371984312
|
|
NM_001369.3(DNAH5):c.9186G>A (p.Arg3062=)
|
|
|
NM_001369.3(DNAH5):c.918C>T (p.Ser306=)
|
rs1776988774
|
|
NM_001369.3(DNAH5):c.9192T>C (p.Leu3064=)
|
|
|
NM_001369.3(DNAH5):c.9196A>G (p.Thr3066Ala)
|
|
|
NM_001369.3(DNAH5):c.9201T>C (p.Asn3067=)
|
|
|
NM_001369.3(DNAH5):c.9204G>A (p.Glu3068=)
|
rs2126810830
|
|
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.9216C>T (p.Asp3072=)
|
rs778518716
|
|
NM_001369.3(DNAH5):c.921G>A (p.Pro307=)
|
rs1247275415
|
|
NM_001369.3(DNAH5):c.921G>T (p.Pro307=)
|
rs1247275415
|
|
NM_001369.3(DNAH5):c.9222C>T (p.Phe3074=)
|
rs1214502696
|
|
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=)
|
|
|
NM_001369.3(DNAH5):c.9252T>A (p.Ile3084=)
|
rs1318129305
|
|
NM_001369.3(DNAH5):c.9258C>T (p.Leu3086=)
|
|
|
NM_001369.3(DNAH5):c.925G>A (p.Val309Met)
|
|
|
NM_001369.3(DNAH5):c.925G>T (p.Val309Leu)
|
|
|
NM_001369.3(DNAH5):c.926T>C (p.Val309Ala)
|
|
|
NM_001369.3(DNAH5):c.9270A>G (p.Pro3090=)
|
rs1412492545
|
|
NM_001369.3(DNAH5):c.9273G>A (p.Val3091=)
|
|
|
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.9286C>A (p.Arg3096=)
|
|
|
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.9312C>G (p.Ala3104=)
|
|
|
NM_001369.3(DNAH5):c.9312C>T (p.Ala3104=)
|
|
|
NM_001369.3(DNAH5):c.9315A>C (p.Leu3105=)
|
|
|
NM_001369.3(DNAH5):c.9321A>G (p.Ser3107=)
|
|
|
NM_001369.3(DNAH5):c.9330A>T (p.Thr3110=)
|
|
|
NM_001369.3(DNAH5):c.9356A>G (p.Lys3119Arg)
|
|
|
NM_001369.3(DNAH5):c.935T>G (p.Val312Gly)
|
rs762677340
|
|
NM_001369.3(DNAH5):c.936G>A (p.Val312=)
|
|
|
NM_001369.3(DNAH5):c.936G>C (p.Val312=)
|
|
|
NM_001369.3(DNAH5):c.936G>T (p.Val312=)
|
rs2151990289
|
|
NM_001369.3(DNAH5):c.9373+13A>G
|
|
|
NM_001369.3(DNAH5):c.9373+8T>A
|
rs573584736
|
|
NM_001369.3(DNAH5):c.9373+9G>A
|
rs2126809893
|
|
NM_001369.3(DNAH5):c.9374-17A>G
|
|
|
NM_001369.3(DNAH5):c.9374-8C>T
|
|
|
NM_001369.3(DNAH5):c.9387C>T (p.Phe3129=)
|
|
|
NM_001369.3(DNAH5):c.9393T>G (p.Thr3131=)
|
|
|
NM_001369.3(DNAH5):c.93T>A (p.Ala31=)
|
rs2152008979
|
|
NM_001369.3(DNAH5):c.93T>C (p.Ala31=)
|
|
|
NM_001369.3(DNAH5):c.9402T>C (p.Asp3134=)
|
|
|
NM_001369.3(DNAH5):c.9411C>T (p.Cys3137=)
|
|
|
NM_001369.3(DNAH5):c.9418G>C (p.Glu3140Gln)
|
|
|
NM_001369.3(DNAH5):c.9420A>G (p.Glu3140=)
|
|
|
NM_001369.3(DNAH5):c.9423C>A (p.Ile3141=)
|
rs2126786434
|
|
NM_001369.3(DNAH5):c.9432G>A (p.Glu3144=)
|
|
|
NM_001369.3(DNAH5):c.9450C>T (p.Gly3150=)
|
|
|
NM_001369.3(DNAH5):c.9465G>A (p.Gly3155=)
|
|
|
NM_001369.3(DNAH5):c.9489T>C (p.Tyr3163=)
|
rs185605880
|
|
NM_001369.3(DNAH5):c.948T>A (p.Leu316=)
|
rs2151990260
|
|
NM_001369.3(DNAH5):c.9503G>A (p.Arg3168Gln)
|
|
|
NM_001369.3(DNAH5):c.9511A>T (p.Thr3171Ser)
|
|
|
NM_001369.3(DNAH5):c.9514C>G (p.His3172Asp)
|
|
|
NM_001369.3(DNAH5):c.9517G>A (p.Val3173Met)
|
|
|
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.9543T>C (p.Phe3181=)
|
rs2126785777
|
|
NM_001369.3(DNAH5):c.9546T>C (p.Ile3182=)
|
|
|
NM_001369.3(DNAH5):c.9546T>G (p.Ile3182Met)
|
|
|
NM_001369.3(DNAH5):c.954G>A (p.Ala318=)
|
rs1776983489
|
|
NM_001369.3(DNAH5):c.9564A>T (p.Ile3188=)
|
|
|
NM_001369.3(DNAH5):c.9575A>G (p.Lys3192Arg)
|
|
|
NM_001369.3(DNAH5):c.9576G>A (p.Lys3192=)
|
|
|
NM_001369.3(DNAH5):c.9586G>A (p.Val3196Met)
|
|
|
NM_001369.3(DNAH5):c.9588G>A (p.Val3196=)
|
|
|
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.9605+14T>A
|
|
|
NM_001369.3(DNAH5):c.9605+14T>C
|
|
|
NM_001369.3(DNAH5):c.9605+15C>G
|
|
|
NM_001369.3(DNAH5):c.9605+20A>G
|
|
|
NM_001369.3(DNAH5):c.9606-18T>G
|
|
|
NM_001369.3(DNAH5):c.960G>A (p.Lys320=)
|
|
|
NM_001369.3(DNAH5):c.9611A>G (p.Asn3204Ser)
|
|
|
NM_001369.3(DNAH5):c.9612T>C (p.Asn3204=)
|
rs751937045
|
|
NM_001369.3(DNAH5):c.9618A>C (p.Gly3206=)
|
|
|
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.9642A>C (p.Ser3214=)
|
|
|
NM_001369.3(DNAH5):c.9654A>G (p.Ala3218=)
|
|
|
NM_001369.3(DNAH5):c.9670C>T (p.Leu3224=)
|
|
|
NM_001369.3(DNAH5):c.9677C>T (p.Ala3226Val)
|
rs192262838
|
|
NM_001369.3(DNAH5):c.9685A>G (p.Lys3229Glu)
|
|
|
NM_001369.3(DNAH5):c.9702C>T (p.Ala3234=)
|
|
|
NM_001369.3(DNAH5):c.9704A>G (p.Asn3235Ser)
|
rs142633108
|
|
NM_001369.3(DNAH5):c.9706G>A (p.Asp3236Asn)
|
|
|
NM_001369.3(DNAH5):c.9711A>G (p.Lys3237=)
|
rs2126779434
|
|
NM_001369.3(DNAH5):c.971T>C (p.Leu324Pro)
|
|
|
NM_001369.3(DNAH5):c.9720+11A>G
|
|
|
NM_001369.3(DNAH5):c.9720+16C>A
|
|
|
NM_001369.3(DNAH5):c.9720+20T>G
|
|
|
NM_001369.3(DNAH5):c.9721-13T>A
|
|
|
NM_001369.3(DNAH5):c.9721-14T>C
|
|
|
NM_001369.3(DNAH5):c.9721-17G>C
|
|
|
NM_001369.3(DNAH5):c.9721-18T>C
|
|
|
NM_001369.3(DNAH5):c.9721-5_9721-4del
|
rs2126776978
|
|
NM_001369.3(DNAH5):c.9721-6A>C
|
rs2126776997
|
|
NM_001369.3(DNAH5):c.972G>A (p.Leu324=)
|
rs757404057
|
|
NM_001369.3(DNAH5):c.975+10C>T
|
|
|
NM_001369.3(DNAH5):c.975+11A>G
|
rs374516847
|
|
NM_001369.3(DNAH5):c.975+16A>C
|
|
|
NM_001369.3(DNAH5):c.975+16A>G
|
|
|
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>T (p.Ala3251Ser)
|
rs139293893
|
|
NM_001369.3(DNAH5):c.9759A>G (p.Glu3253=)
|
|
|
NM_001369.3(DNAH5):c.976-11A>C
|
|
|
NM_001369.3(DNAH5):c.976-11A>G
|
|
|
NM_001369.3(DNAH5):c.976-13C>G
|
|
|
NM_001369.3(DNAH5):c.976-13C>T
|
|
|
NM_001369.3(DNAH5):c.976-4T>C
|
rs375382496
|
|
NM_001369.3(DNAH5):c.976-7T>C
|
|
|
NM_001369.3(DNAH5):c.9761A>G (p.Lys3254Arg)
|
|
|
NM_001369.3(DNAH5):c.9765C>A (p.Val3255=)
|
|
|
NM_001369.3(DNAH5):c.9765C>G (p.Val3255=)
|
|
|
NM_001369.3(DNAH5):c.9774G>A (p.Glu3258=)
|
rs2126776667
|
|
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.9810G>A (p.Val3270=)
|
rs779435246
|
|
NM_001369.3(DNAH5):c.982C>T (p.Arg328Trp)
|
|
|
NM_001369.3(DNAH5):c.9831A>G (p.Lys3277=)
|
|
|
NM_001369.3(DNAH5):c.9840T>C (p.Ala3280=)
|
rs1256566430
|
|
NM_001369.3(DNAH5):c.9840T>G (p.Ala3280=)
|
|
|
NM_001369.3(DNAH5):c.9849A>G (p.Lys3283=)
|
|
|
NM_001369.3(DNAH5):c.9856G>A (p.Ala3286Thr)
|
|
|
NM_001369.3(DNAH5):c.9864A>G (p.Lys3288=)
|
|
|
NM_001369.3(DNAH5):c.986A>G (p.Glu329Gly)
|
|
|
NM_001369.3(DNAH5):c.9878A>C (p.Glu3293Ala)
|
|
|
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.9892T>C (p.Leu3298=)
|
|
|
NM_001369.3(DNAH5):c.9897+13G>A
|
|
|
NM_001369.3(DNAH5):c.9897+13G>C
|
|
|
NM_001369.3(DNAH5):c.9897+7C>A
|
rs2126775713
|
|
NM_001369.3(DNAH5):c.9897+8T>G
|
|
|
NM_001369.3(DNAH5):c.9897+9A>C
|
rs774932799
|
|
NM_001369.3(DNAH5):c.9897+9_9897+10del
|
|
|
NM_001369.3(DNAH5):c.9898-12T>C
|
|
|
NM_001369.3(DNAH5):c.9898-19C>T
|
|
|
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=)
|
|
|
NM_001369.3(DNAH5):c.9915C>T (p.Asp3305=)
|
rs2126762928
|
|
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=)
|
|
|
NM_001369.3(DNAH5):c.9948T>A (p.Pro3316=)
|
|
|
NM_001369.3(DNAH5):c.9951C>T (p.His3317=)
|
rs2126762640
|
|
NM_001369.3(DNAH5):c.9957C>A (p.Ile3319=)
|
|
|
NM_001369.3(DNAH5):c.9961C>T (p.Arg3321Trp)
|
|
|
NM_001369.3(DNAH5):c.9962G>A (p.Arg3321Gln)
|
|
|
NM_001369.3(DNAH5):c.9963G>C (p.Arg3321=)
|
|
|
NM_001369.3(DNAH5):c.9963G>T (p.Arg3321=)
|
|
|
NM_001369.3(DNAH5):c.9964A>C (p.Ile3322Leu)
|
|
|
NM_001369.3(DNAH5):c.9966C>T (p.Ile3322=)
|
rs1752480559
|
|
NM_001369.3(DNAH5):c.9976G>A (p.Val3326Ile)
|
rs149452082
|
|
NM_001369.3(DNAH5):c.9978A>G (p.Val3326=)
|
|
|
NM_001369.3(DNAH5):c.997C>A (p.Arg333=)
|
rs771956532
|
|
NM_001369.3(DNAH5):c.9985C>T (p.Leu3329=)
|
|
|
NM_001369.3(DNAH5):c.9987G>C (p.Leu3329=)
|
|
|
NM_001369.3(DNAH5):c.998G>A (p.Arg333Gln)
|
|
|
NM_001369.3(DNAH5):c.9G>A (p.Arg3=)
|
|
|
NM_002408.4(MGAT2):c.-351G>T
|
rs116136260
|
|
NM_003114.5(SPAG1):c.1083C>T (p.Gly361=)
|
|
|
NM_003114.5(SPAG1):c.1242G>C (p.Ala414=)
|
|
|
NM_003114.5(SPAG1):c.1347G>A (p.Lys449=)
|
|
|
NM_003114.5(SPAG1):c.1830C>T (p.Ser610=)
|
|
|
NM_003114.5(SPAG1):c.2211C>T (p.Leu737=)
|
|
|
NM_003114.5(SPAG1):c.2385T>C (p.Pro795=)
|
|
|
NM_003114.5(SPAG1):c.2444C>T (p.Ala815Val)
|
|
|
NM_003114.5(SPAG1):c.2661A>G (p.Thr887=)
|
|
|
NM_003114.5(SPAG1):c.288T>C (p.Asp96=)
|
|
|
NM_003114.5(SPAG1):c.826G>A (p.Val276Ile)
|
|
|
NM_012144.4(DNAI1):c.1002C>A (p.Ser334=)
|
rs754233819
|
|
NM_012144.4(DNAI1):c.1005C>T (p.Val335=)
|
|
|
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
|
|
|
NM_012144.4(DNAI1):c.1019+20_1019+28del
|
|
|
NM_012144.4(DNAI1):c.1019+9A>C
|
|
|
NM_012144.4(DNAI1):c.1020-10T>C
|
|
|
NM_012144.4(DNAI1):c.1020-10T>G
|
rs2132072437
|
|
NM_012144.4(DNAI1):c.1020-14A>G
|
|
|
NM_012144.4(DNAI1):c.1020-16A>G
|
|
|
NM_012144.4(DNAI1):c.1020-16A>T
|
|
|
NM_012144.4(DNAI1):c.1020-9T>C
|
|
|
NM_012144.4(DNAI1):c.1029G>A (p.Lys343=)
|
|
|
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
|
|
|
NM_012144.4(DNAI1):c.1063+19C>T
|
rs794727066
|
|
NM_012144.4(DNAI1):c.1064-10C>G
|
|
|
NM_012144.4(DNAI1):c.1064-11del
|
|
|
NM_012144.4(DNAI1):c.1064-15A>T
|
|
|
NM_012144.4(DNAI1):c.1064-19G>A
|
|
|
NM_012144.4(DNAI1):c.1064-19G>C
|
|
|
NM_012144.4(DNAI1):c.1064-4G>T
|
|
|
NM_012144.4(DNAI1):c.1064-7T>C
|
rs886038584
|
|
NM_012144.4(DNAI1):c.1086G>A (p.Arg362=)
|
|
|
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=)
|
|
|
NM_012144.4(DNAI1):c.1116C>T (p.Asn372=)
|
|
|
NM_012144.4(DNAI1):c.1119C>T (p.Pro373=)
|
|
|
NM_012144.4(DNAI1):c.1122C>T (p.Ser374=)
|
|
|
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.1131G>A (p.Glu377=)
|
rs936989573
|
|
NM_012144.4(DNAI1):c.1134C>T (p.Tyr378=)
|
rs2132076769
|
|
NM_012144.4(DNAI1):c.1170C>T (p.Asp390=)
|
|
|
NM_012144.4(DNAI1):c.1179G>C (p.Val393=)
|
|
|
NM_012144.4(DNAI1):c.1188C>T (p.Pro396=)
|
rs2132076864
|
|
NM_012144.4(DNAI1):c.1191C>T (p.Tyr397=)
|
|
|
NM_012144.4(DNAI1):c.1197G>A (p.Val399=)
|
|
|
NM_012144.4(DNAI1):c.1206C>A (p.Gly402=)
|
rs1824940432
|
|
NM_012144.4(DNAI1):c.1209C>T (p.His403=)
|
|
|
NM_012144.4(DNAI1):c.120T>C (p.Asp40=)
|
|
|
NM_012144.4(DNAI1):c.1239C>G (p.Leu413=)
|
rs2132076954
|
|
NM_012144.4(DNAI1):c.123A>G (p.Glu41=)
|
|
|
NM_012144.4(DNAI1):c.1242G>A (p.Lys414=)
|
rs768199292
|
|
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.1290G>A (p.Lys430=)
|
rs1047610175
|
|
NM_012144.4(DNAI1):c.1302T>C (p.Pro434=)
|
|
|
NM_012144.4(DNAI1):c.1305G>A (p.Val435=)
|
|
|
NM_012144.4(DNAI1):c.1311+13G>A
|
|
|
NM_012144.4(DNAI1):c.1311+16G>A
|
|
|
NM_012144.4(DNAI1):c.1311+16G>T
|
|
|
NM_012144.4(DNAI1):c.1311+20G>A
|
|
|
NM_012144.4(DNAI1):c.1311+21_1311+35del
|
|
|
NM_012144.4(DNAI1):c.1311+7A>G
|
rs2132077061
|
|
NM_012144.4(DNAI1):c.1311+9C>G
|
rs2132077070
|
|
NM_012144.4(DNAI1):c.1312-19A>C
|
|
|
NM_012144.4(DNAI1):c.1312-7G>A
|
|
|
NM_012144.4(DNAI1):c.132A>G (p.Gln44=)
|
rs2132057349
|
|
NM_012144.4(DNAI1):c.1374C>A (p.Gly458=)
|
|
|
NM_012144.4(DNAI1):c.1377G>A (p.Arg459=)
|
|
|
NM_012144.4(DNAI1):c.1383G>A (p.Val461=)
|
rs2132081385
|
|
NM_012144.4(DNAI1):c.1401+12C>T
|
|
|
NM_012144.4(DNAI1):c.1401+18A>G
|
|
|
NM_012144.4(DNAI1):c.1401+6dup
|
rs2132081431
|
|
NM_012144.4(DNAI1):c.1402-14G>C
|
|
|
NM_012144.4(DNAI1):c.1402-19C>T
|
|
|
NM_012144.4(DNAI1):c.1407G>A (p.Lys469=)
|
|
|
NM_012144.4(DNAI1):c.1422T>C (p.Asp474=)
|
rs201345286
|
|
NM_012144.4(DNAI1):c.1431G>A (p.Lys477=)
|
|
|
NM_012144.4(DNAI1):c.1437G>A (p.Lys479=)
|
|
|
NM_012144.4(DNAI1):c.1443A>G (p.Glu481=)
|
|
|
NM_012144.4(DNAI1):c.1449C>T (p.Ser483=)
|
rs1461407696
|
|
NM_012144.4(DNAI1):c.144A>G (p.Thr48=)
|
|
|
NM_012144.4(DNAI1):c.1452C>T (p.Thr484=)
|
|
|
NM_012144.4(DNAI1):c.1455G>C (p.Thr485=)
|
|
|
NM_012144.4(DNAI1):c.1476G>A (p.Gln492=)
|
|
|
NM_012144.4(DNAI1):c.1482C>T (p.His494=)
|
|
|
NM_012144.4(DNAI1):c.1489+10C>A
|
|
|
NM_012144.4(DNAI1):c.1489+10C>T
|
|
|
NM_012144.4(DNAI1):c.1489+12A>G
|
|
|
NM_012144.4(DNAI1):c.1489+13G>A
|
|
|
NM_012144.4(DNAI1):c.1489+16C>T
|
|
|
NM_012144.4(DNAI1):c.1490-17C>T
|
|
|
NM_012144.4(DNAI1):c.1490-5C>G
|
|
|
NM_012144.4(DNAI1):c.1490-5C>T
|
rs748260311
|
|
NM_012144.4(DNAI1):c.1494T>C (p.Cys498=)
|
rs2132082502
|
|
NM_012144.4(DNAI1):c.1497C>T (p.Gly499=)
|
|
|
NM_012144.4(DNAI1):c.1512C>T (p.Phe504=)
|
rs1168965747
|
|
NM_012144.4(DNAI1):c.1515C>T (p.His505=)
|
rs2132082536
|
|
NM_012144.4(DNAI1):c.1530C>T (p.Tyr510=)
|
|
|
NM_012144.4(DNAI1):c.153C>A (p.Pro51=)
|
rs1587067441
|
|
NM_012144.4(DNAI1):c.1563C>T (p.Ile521=)
|
rs2132082600
|
|
NM_012144.4(DNAI1):c.1566C>T (p.Tyr522=)
|
|
|
NM_012144.4(DNAI1):c.1569+11C>T
|
|
|
NM_012144.4(DNAI1):c.1569+12C>G
|
|
|
NM_012144.4(DNAI1):c.1569+12dup
|
rs1278322224
|
|
NM_012144.4(DNAI1):c.1569+14G>T
|
|
|
NM_012144.4(DNAI1):c.1569+15T>C
|
|
|
NM_012144.4(DNAI1):c.1569+16G>A
|
|
|
NM_012144.4(DNAI1):c.1569+17C>T
|
|
|
NM_012144.4(DNAI1):c.1569+18C>T
|
|
|
NM_012144.4(DNAI1):c.1569+7C>T
|
|
|
NM_012144.4(DNAI1):c.1570-14C>A
|
|
|
NM_012144.4(DNAI1):c.1570-17G>A
|
|
|
NM_012144.4(DNAI1):c.1570-18C>G
|
|
|
NM_012144.4(DNAI1):c.1570-18C>T
|
|
|
NM_012144.4(DNAI1):c.1570-20C>T
|
|
|
NM_012144.4(DNAI1):c.1570-4C>A
|
|
|
NM_012144.4(DNAI1):c.1570-4C>T
|
|
|
NM_012144.4(DNAI1):c.1570-6G>C
|
rs370622070
|
|
NM_012144.4(DNAI1):c.1570-8C>T
|
rs2132083713
|
|
NM_012144.4(DNAI1):c.1599C>A (p.Leu533=)
|
rs150785761
|
|
NM_012144.4(DNAI1):c.15T>C (p.Ser5=)
|
|
|
NM_012144.4(DNAI1):c.1611C>T (p.Asp537=)
|
rs199502666
|
|
NM_012144.4(DNAI1):c.1614C>T (p.Ala538=)
|
|
|
NM_012144.4(DNAI1):c.1635T>G (p.Thr545=)
|
|
|
NM_012144.4(DNAI1):c.1638G>T (p.Val546=)
|
rs1825132822
|
|
NM_012144.4(DNAI1):c.1647C>T (p.Asn549=)
|
|
|
NM_012144.4(DNAI1):c.165G>A (p.Leu55=)
|
rs2132057398
|
|
NM_012144.4(DNAI1):c.1677C>T (p.Cys559=)
|
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=)
|
|
|
NM_012144.4(DNAI1):c.1698G>A (p.Lys566=)
|
|
|
NM_012144.4(DNAI1):c.1710C>T (p.His570=)
|
|
|
NM_012144.4(DNAI1):c.1718+12G>A
|
|
|
NM_012144.4(DNAI1):c.1718+15C>T
|
|
|
NM_012144.4(DNAI1):c.1718+19G>T
|
|
|
NM_012144.4(DNAI1):c.1718+20C>T
|
|
|
NM_012144.4(DNAI1):c.1718+9C>A
|
|
|
NM_012144.4(DNAI1):c.1719-10A>C
|
|
|
NM_012144.4(DNAI1):c.1719-12C>T
|
|
|
NM_012144.4(DNAI1):c.1719-14C>T
|
|
|
NM_012144.4(DNAI1):c.1719-18C>T
|
|
|
NM_012144.4(DNAI1):c.1719-4G>A
|
rs1419477770
|
|
NM_012144.4(DNAI1):c.1719-9C>T
|
|
|
NM_012144.4(DNAI1):c.1737T>C (p.Tyr579=)
|
|
|
NM_012144.4(DNAI1):c.1746C>T (p.Asn582=)
|
|
|
NM_012144.4(DNAI1):c.174C>A (p.Thr58=)
|
|
|
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=)
|
|
|
NM_012144.4(DNAI1):c.1767C>A (p.Ala589=)
|
|
|
NM_012144.4(DNAI1):c.1776A>T (p.Pro592=)
|
rs1008510837
|
|
NM_012144.4(DNAI1):c.1779C>T (p.Tyr593=)
|
|
|
NM_012144.4(DNAI1):c.1788T>C (p.Thr596=)
|
|
|
NM_012144.4(DNAI1):c.180+14C>T
|
|
|
NM_012144.4(DNAI1):c.180+19G>A
|
|
|
NM_012144.4(DNAI1):c.180+20T>C
|
|
|
NM_012144.4(DNAI1):c.1800A>G (p.Ala600=)
|
|
|
NM_012144.4(DNAI1):c.1809A>T (p.Thr603=)
|
rs2132084284
|
|
NM_012144.4(DNAI1):c.181-15A>G
|
|
|
NM_012144.4(DNAI1):c.181-5C>T
|
rs2132057646
|
|
NM_012144.4(DNAI1):c.181-7C>A
|
|
|
NM_012144.4(DNAI1):c.1818+15C>G
|
|
|
NM_012144.4(DNAI1):c.1818+17T>C
|
|
|
NM_012144.4(DNAI1):c.1818+20C>T
|
|
|
NM_012144.4(DNAI1):c.1818+9C>G
|
|
|
NM_012144.4(DNAI1):c.1819-10C>T
|
|
|
NM_012144.4(DNAI1):c.1819-11C>T
|
|
|
NM_012144.4(DNAI1):c.1819-14C>G
|
|
|
NM_012144.4(DNAI1):c.1819-14C>T
|
|
|
NM_012144.4(DNAI1):c.1819-19G>A
|
|
|
NM_012144.4(DNAI1):c.1819-4A>C
|
rs2132086400
|
|
NM_012144.4(DNAI1):c.1821C>T (p.Ala607=)
|
rs2132086418
|
|
NM_012144.4(DNAI1):c.1825A>G (p.Ile609Val)
|
|
|
NM_012144.4(DNAI1):c.1839C>T (p.Ala613=)
|
|
|
NM_012144.4(DNAI1):c.1875G>T (p.Val625=)
|
|
|
NM_012144.4(DNAI1):c.1884A>G (p.Lys628=)
|
rs544254178
|
|
NM_012144.4(DNAI1):c.1887G>A (p.Lys629=)
|
|
|
NM_012144.4(DNAI1):c.1899C>A (p.Thr633=)
|
rs1424652340
|
|
NM_012144.4(DNAI1):c.1899C>T (p.Thr633=)
|
|
|
NM_012144.4(DNAI1):c.189G>A (p.Lys63=)
|
rs1011660587
|
|
NM_012144.4(DNAI1):c.18G>A (p.Ala6=)
|
|
|
NM_012144.4(DNAI1):c.1917C>T (p.Leu639=)
|
rs1825189744
|
|
NM_012144.4(DNAI1):c.1920C>A (p.Ile640=)
|
rs778382564
|
|
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.1935T>C (p.Ile645=)
|
|
|
NM_012144.4(DNAI1):c.195G>A (p.Glu65=)
|
|
|
NM_012144.4(DNAI1):c.1962C>A (p.Ile654=)
|
|
|
NM_012144.4(DNAI1):c.1962C>T (p.Ile654=)
|
|
|
NM_012144.4(DNAI1):c.1984T>C (p.Leu662=)
|
rs2132086682
|
|
NM_012144.4(DNAI1):c.1998A>G (p.Pro666=)
|
rs919734920
|
|
NM_012144.4(DNAI1):c.2001+10C>G
|
rs1237431260
|
|
NM_012144.4(DNAI1):c.2001+10C>T
|
|
|
NM_012144.4(DNAI1):c.2001+14G>A
|
|
|
NM_012144.4(DNAI1):c.2001+7G>A
|
rs1437773528
|
|
NM_012144.4(DNAI1):c.2001+7G>C
|
|
|
NM_012144.4(DNAI1):c.2001+9T>C
|
|
|
NM_012144.4(DNAI1):c.2002-10C>T
|
|
|
NM_012144.4(DNAI1):c.2002-18T>C
|
|
|
NM_012144.4(DNAI1):c.2002-4C>T
|
|
|
NM_012144.4(DNAI1):c.2002-5C>T
|
rs1587096958
|
|
NM_012144.4(DNAI1):c.2007G>A (p.Lys669=)
|
|
|
NM_012144.4(DNAI1):c.2013G>A (p.Gly671=)
|
|
|
NM_012144.4(DNAI1):c.2022G>A (p.Val674=)
|
rs933564569
|
|
NM_012144.4(DNAI1):c.202C>A (p.Arg68=)
|
rs759540568
|
|
NM_012144.4(DNAI1):c.2046T>A (p.Ile682=)
|
rs2132089778
|
|
NM_012144.4(DNAI1):c.2049G>C (p.Ala683=)
|
|
|
NM_012144.4(DNAI1):c.204G>A (p.Arg68=)
|
rs1301833925
|
|
NM_012144.4(DNAI1):c.2058C>T (p.Asp686=)
|
rs770774973
|
|
NM_012144.4(DNAI1):c.2067G>A (p.Leu689=)
|
|
|
NM_012144.4(DNAI1):c.2076G>C (p.Val692=)
|
|
|
NM_012144.4(DNAI1):c.207T>A (p.Ile69=)
|
rs2132057695
|
|
NM_012144.4(DNAI1):c.22G>T (p.Ala8Ser)
|
rs11547035
|
|
NM_012144.4(DNAI1):c.261+10C>T
|
rs1824453816
|
|
NM_012144.4(DNAI1):c.261+13C>T
|
|
|
NM_012144.4(DNAI1):c.261+15C>T
|
|
|
NM_012144.4(DNAI1):c.261+16C>T
|
|
|
NM_012144.4(DNAI1):c.261+19G>C
|
|
|
NM_012144.4(DNAI1):c.261+7C>T
|
|
|
NM_012144.4(DNAI1):c.261+8A>G
|
rs757264175
|
|
NM_012144.4(DNAI1):c.262-13C>T
|
|
|
NM_012144.4(DNAI1):c.262-4T>C
|
|
|
NM_012144.4(DNAI1):c.262-7T>G
|
rs2132060966
|
|
NM_012144.4(DNAI1):c.262-8C>T
|
|
|
NM_012144.4(DNAI1):c.273T>C (p.Tyr91=)
|
|
|
NM_012144.4(DNAI1):c.288T>C (p.Phe96=)
|
rs201935680
|
|
NM_012144.4(DNAI1):c.291G>T (p.Val97=)
|
rs1824534447
|
|
NM_012144.4(DNAI1):c.300G>C (p.Leu100=)
|
|
|
NM_012144.4(DNAI1):c.315C>G (p.Thr105=)
|
|
|
NM_012144.4(DNAI1):c.315C>T (p.Thr105=)
|
|
|
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.338A>G (p.Lys113Arg)
|
rs367903999
|
|
NM_012144.4(DNAI1):c.366T>C (p.His122=)
|
rs1060503514
|
|
NM_012144.4(DNAI1):c.384G>A (p.Val128=)
|
rs2132061208
|
|
NM_012144.4(DNAI1):c.388+10T>C
|
|
|
NM_012144.4(DNAI1):c.389-11A>G
|
|
|
NM_012144.4(DNAI1):c.389-13G>A
|
|
|
NM_012144.4(DNAI1):c.389-19T>C
|
|
|
NM_012144.4(DNAI1):c.389-5C>A
|
rs1587070803
|
|
NM_012144.4(DNAI1):c.389-8C>A
|
|
|
NM_012144.4(DNAI1):c.389-9C>T
|
|
|
NM_012144.4(DNAI1):c.399G>A (p.Glu133=)
|
rs756828891
|
|
NM_012144.4(DNAI1):c.402T>A (p.Ser134=)
|
|
|
NM_012144.4(DNAI1):c.423A>G (p.Thr141=)
|
rs2132061760
|
|
NM_012144.4(DNAI1):c.426A>G (p.Gly142=)
|
|
|
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=)
|
|
|
NM_012144.4(DNAI1):c.474G>A (p.Gly158=)
|
|
|
NM_012144.4(DNAI1):c.48+10G>A
|
rs2132034542
|
|
NM_012144.4(DNAI1):c.48+10G>T
|
|
|
NM_012144.4(DNAI1):c.48+13C>T
|
|
|
NM_012144.4(DNAI1):c.48+14A>G
|
|
|
NM_012144.4(DNAI1):c.48+16C>T
|
rs775621604
|
|
NM_012144.4(DNAI1):c.48+19C>T
|
|
|
NM_012144.4(DNAI1):c.48+9C>T
|
|
|
NM_012144.4(DNAI1):c.489G>A (p.Val163=)
|
|
|
NM_012144.4(DNAI1):c.49-10C>T
|
|
|
NM_012144.4(DNAI1):c.49-4T>G
|
rs2132055870
|
|
NM_012144.4(DNAI1):c.49-7C>T
|
|
|
NM_012144.4(DNAI1):c.498T>G (p.Ala166=)
|
|
|
NM_012144.4(DNAI1):c.501+10A>G
|
rs765805502
|
|
NM_012144.4(DNAI1):c.501+15C>A
|
rs369759767
|
|
NM_012144.4(DNAI1):c.501+15C>T
|
|
|
NM_012144.4(DNAI1):c.501+16G>T
|
|
|
NM_012144.4(DNAI1):c.501+17C>T
|
|
|
NM_012144.4(DNAI1):c.501+19_501+20del
|
|
|
NM_012144.4(DNAI1):c.501+8A>G
|
|
|
NM_012144.4(DNAI1):c.502-10T>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.537T>C (p.Thr179=)
|
rs2132062198
|
|
NM_012144.4(DNAI1):c.543G>A (p.Lys181=)
|
rs2132062207
|
|
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.570C>T (p.Asn190=)
|
|
|
NM_012144.4(DNAI1):c.579C>T (p.Asn193=)
|
|
|
NM_012144.4(DNAI1):c.594C>G (p.Ala198=)
|
|
|
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.60A>C (p.Ile20=)
|
|
|
NM_012144.4(DNAI1):c.615T>C (p.Pro205=)
|
rs1824566223
|
|
NM_012144.4(DNAI1):c.621+12C>T
|
|
|
NM_012144.4(DNAI1):c.621+13C>T
|
|
|
NM_012144.4(DNAI1):c.621+14C>A
|
|
|
NM_012144.4(DNAI1):c.621+14C>T
|
|
|
NM_012144.4(DNAI1):c.621+14dup
|
rs757124110
|
|
NM_012144.4(DNAI1):c.621+15A>C
|
|
|
NM_012144.4(DNAI1):c.621+17C>G
|
|
|
NM_012144.4(DNAI1):c.621+9G>A
|
|
|
NM_012144.4(DNAI1):c.622-10T>C
|
|
|
NM_012144.4(DNAI1):c.622-14G>A
|
|
|
NM_012144.4(DNAI1):c.622-20C>G
|
|
|
NM_012144.4(DNAI1):c.622-9G>C
|
rs1317000391
|
|
NM_012144.4(DNAI1):c.651C>A (p.Pro217=)
|
|
|
NM_012144.4(DNAI1):c.654G>A (p.Arg218=)
|
|
|
NM_012144.4(DNAI1):c.675C>T (p.Ala225=)
|
|
|
NM_012144.4(DNAI1):c.681+20T>C
|
|
|
NM_012144.4(DNAI1):c.681+8C>G
|
|
|
NM_012144.4(DNAI1):c.682-10C>T
|
rs748769889
|
|
NM_012144.4(DNAI1):c.682-11C>A
|
|
|
NM_012144.4(DNAI1):c.682-11C>T
|
|
|
NM_012144.4(DNAI1):c.682-18T>C
|
|
|
NM_012144.4(DNAI1):c.682-6G>C
|
|
|
NM_012144.4(DNAI1):c.682-9C>T
|
|
|
NM_012144.4(DNAI1):c.693T>C (p.Tyr231=)
|
|
|
NM_012144.4(DNAI1):c.696T>C (p.Asp232=)
|
rs2132065303
|
|
NM_012144.4(DNAI1):c.702T>C (p.Tyr234=)
|
|
|
NM_012144.4(DNAI1):c.705A>C (p.Val235=)
|
rs2132065332
|
|
NM_012144.4(DNAI1):c.705A>G (p.Val235=)
|
|
|
NM_012144.4(DNAI1):c.711A>G (p.Glu237=)
|
|
|
NM_012144.4(DNAI1):c.723G>A (p.Gln241=)
|
|
|
NM_012144.4(DNAI1):c.726A>G (p.Glu242=)
|
rs2132065376
|
|
NM_012144.4(DNAI1):c.732C>G (p.Thr244=)
|
|
|
NM_012144.4(DNAI1):c.732C>T (p.Thr244=)
|
rs947504661
|
|
NM_012144.4(DNAI1):c.747G>A (p.Lys249=)
|
rs764172924
|
|
NM_012144.4(DNAI1):c.753G>A (p.Lys251=)
|
|
|
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.771A>G (p.Lys257=)
|
rs761802925
|
|
NM_012144.4(DNAI1):c.786C>T (p.Ala262=)
|
rs2132065491
|
|
NM_012144.4(DNAI1):c.78G>A (p.Lys26=)
|
rs2132055908
|
|
NM_012144.4(DNAI1):c.804T>G (p.Ser268=)
|
rs2132065526
|
|
NM_012144.4(DNAI1):c.805A>G (p.Met269Val)
|
|
|
NM_012144.4(DNAI1):c.81+11A>G
|
|
|
NM_012144.4(DNAI1):c.81+12G>C
|
|
|
NM_012144.4(DNAI1):c.81+14C>G
|
|
|
NM_012144.4(DNAI1):c.81+18C>T
|
|
|
NM_012144.4(DNAI1):c.816+12G>A
|
|
|
NM_012144.4(DNAI1):c.816+15C>G
|
|
|
NM_012144.4(DNAI1):c.816+16C>G
|
|
|
NM_012144.4(DNAI1):c.816+16C>T
|
|
|
NM_012144.4(DNAI1):c.816+18A>G
|
|
|
NM_012144.4(DNAI1):c.816+19C>T
|
|
|
NM_012144.4(DNAI1):c.816+20A>G
|
|
|
NM_012144.4(DNAI1):c.817-18G>A
|
|
|
NM_012144.4(DNAI1):c.817-7C>T
|
rs1587076750
|
|
NM_012144.4(DNAI1):c.82-11T>A
|
|
|
NM_012144.4(DNAI1):c.82-11T>C
|
|
|
NM_012144.4(DNAI1):c.82-12G>A
|
rs1824445018
|
|
NM_012144.4(DNAI1):c.82-12del
|
|
|
NM_012144.4(DNAI1):c.82-6G>A
|
|
|
NM_012144.4(DNAI1):c.82-8T>C
|
rs1824445067
|
|
NM_012144.4(DNAI1):c.825T>C (p.Asp275=)
|
|
|
NM_012144.4(DNAI1):c.831C>T (p.Ile277=)
|
rs139611887
|
|
NM_012144.4(DNAI1):c.837G>A (p.Leu279=)
|
|
|
NM_012144.4(DNAI1):c.840C>T (p.Ser280=)
|
rs2132068936
|
|
NM_012144.4(DNAI1):c.843A>G (p.Gln281=)
|
|
|
NM_012144.4(DNAI1):c.861G>A (p.Glu287=)
|
|
|
NM_012144.4(DNAI1):c.864G>A (p.Arg288=)
|
rs1824742311
|
|
NM_012144.4(DNAI1):c.864G>C (p.Arg288=)
|
|
|
NM_012144.4(DNAI1):c.864G>T (p.Arg288=)
|
|
|
NM_012144.4(DNAI1):c.891C>T (p.Asp297=)
|
rs2132069010
|
|
NM_012144.4(DNAI1):c.897T>C (p.Ala299=)
|
|
|
NM_012144.4(DNAI1):c.901+12A>T
|
|
|
NM_012144.4(DNAI1):c.901+20C>A
|
|
|
NM_012144.4(DNAI1):c.901+7G>A
|
|
|
NM_012144.4(DNAI1):c.902-11G>A
|
|
|
NM_012144.4(DNAI1):c.902-13G>A
|
|
|
NM_012144.4(DNAI1):c.902-13G>C
|
|
|
NM_012144.4(DNAI1):c.902-15C>T
|
|
|
NM_012144.4(DNAI1):c.902-16C>G
|
rs2132071917
|
|
NM_012144.4(DNAI1):c.902-17G>T
|
|
|
NM_012144.4(DNAI1):c.902-6T>C
|
|
|
NM_012144.4(DNAI1):c.93A>G (p.Ser31=)
|
|
|
NM_012144.4(DNAI1):c.945G>A (p.Gln315=)
|
|
|
NM_012144.4(DNAI1):c.958C>T (p.Leu320=)
|
|
|
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=)
|
|
|
NM_012144.4(DNAI1):c.984C>T (p.Asp328=)
|
rs2132072063
|
|
NM_012144.4(DNAI1):c.990C>G (p.Ala330=)
|
|
|
NM_012144.4(DNAI1):c.994C>T (p.Arg332Cys)
|
|
|
NM_012144.4(DNAI1):c.995G>A (p.Arg332His)
|
|
|
NM_012472.6(DNAAF11):c.1059C>T (p.Val353=)
|
|
|
NM_012472.6(DNAAF11):c.1173A>G (p.Ala391=)
|
|
|
NM_012472.6(DNAAF11):c.147C>G (p.Leu49=)
|
rs768257025
|
|
NM_012472.6(DNAAF11):c.66C>T (p.Ser22=)
|
rs200925027
|
|
NM_012472.6(DNAAF11):c.681A>G (p.Leu227=)
|
|
|
NM_015896.4(ZMYND10):c.1053A>G (p.Ala351=)
|
|
|
NM_015896.4(ZMYND10):c.1089C>G (p.Pro363=)
|
|
|
NM_015896.4(ZMYND10):c.1104G>A (p.Leu368=)
|
|
|
NM_015896.4(ZMYND10):c.1107G>T (p.Arg369=)
|
rs1703388579
|
|
NM_015896.4(ZMYND10):c.1115C>T (p.Ala372Val)
|
|
|
NM_015896.4(ZMYND10):c.1116G>T (p.Ala372=)
|
rs143000634
|
|
NM_015896.4(ZMYND10):c.1121+10G>A
|
|
|
NM_015896.4(ZMYND10):c.1122-16C>T
|
|
|
NM_015896.4(ZMYND10):c.1122-18T>C
|
|
|
NM_015896.4(ZMYND10):c.1122-6C>T
|
|
|
NM_015896.4(ZMYND10):c.1137C>T (p.Tyr379=)
|
|
|
NM_015896.4(ZMYND10):c.1155G>A (p.Glu385=)
|
|
|
NM_015896.4(ZMYND10):c.1197A>G (p.Ala399=)
|
rs1703379284
|
|
NM_015896.4(ZMYND10):c.1247+18C>A
|
|
|
NM_015896.4(ZMYND10):c.168G>A (p.Glu56=)
|
|
|
NM_015896.4(ZMYND10):c.201+9A>T
|
|
|
NM_015896.4(ZMYND10):c.202-11A>C
|
|
|
NM_015896.4(ZMYND10):c.202-11A>G
|
|
|
NM_015896.4(ZMYND10):c.246G>A (p.Lys82=)
|
|
|
NM_015896.4(ZMYND10):c.294G>A (p.Gln98=)
|
|
|
NM_015896.4(ZMYND10):c.297C>T (p.Asn99=)
|
|
|
NM_015896.4(ZMYND10):c.312C>T (p.Tyr104=)
|
|
|
NM_015896.4(ZMYND10):c.372+20C>T
|
|
|
NM_015896.4(ZMYND10):c.372+9C>T
|
|
|
NM_015896.4(ZMYND10):c.373-14C>T
|
|
|
NM_015896.4(ZMYND10):c.373-17CCT[2]
|
|
|
NM_015896.4(ZMYND10):c.43C>T (p.Leu15=)
|
|
|
NM_015896.4(ZMYND10):c.477G>A (p.Glu159=)
|
|
|
NM_015896.4(ZMYND10):c.495C>T (p.Asp165=)
|
|
|
NM_015896.4(ZMYND10):c.564C>T (p.Leu188=)
|
rs144295551
|
|
NM_015896.4(ZMYND10):c.599+11C>T
|
|
|
NM_015896.4(ZMYND10):c.599+19C>T
|
|
|
NM_015896.4(ZMYND10):c.600-15C>T
|
|
|
NM_015896.4(ZMYND10):c.600-22_600-12del
|
|
|
NM_015896.4(ZMYND10):c.621C>T (p.Ser207=)
|
rs777911817
|
|
NM_015896.4(ZMYND10):c.624T>A (p.Arg208=)
|
rs2109357591
|
|
NM_015896.4(ZMYND10):c.633C>T (p.Ser211=)
|
|
|
NM_015896.4(ZMYND10):c.700+14C>G
|
|
|
NM_015896.4(ZMYND10):c.700+15C>A
|
rs191853356
|
|
NM_015896.4(ZMYND10):c.700+15C>G
|
|
|
NM_015896.4(ZMYND10):c.701-18G>A
|
|
|
NM_015896.4(ZMYND10):c.777C>T (p.Asp259=)
|
|
|
NM_015896.4(ZMYND10):c.813A>G (p.Leu271=)
|
|
|
NM_015896.4(ZMYND10):c.873+14C>T
|
|
|
NM_015896.4(ZMYND10):c.873+18C>G
|
|
|
NM_015896.4(ZMYND10):c.873+20A>C
|
|
|
NM_015896.4(ZMYND10):c.92+11C>T
|
|
|
NM_015896.4(ZMYND10):c.92+15T>A
|
|
|
NM_015896.4(ZMYND10):c.93-11C>T
|
|
|
NM_015896.4(ZMYND10):c.942G>C (p.Leu314=)
|
|
|
NM_015896.4(ZMYND10):c.954C>A (p.Thr318=)
|
|
|
NM_015896.4(ZMYND10):c.984C>T (p.Asp328=)
|
|
|
NM_016616.5(NME8):c.1090G>T (p.Glu364Ter)
|
|
|
NM_016616.5(NME8):c.138A>G (p.Gln46=)
|
|
|
NM_016616.5(NME8):c.1515T>C (p.Phe505=)
|
|
|
NM_016616.5(NME8):c.1600C>T (p.Arg534Ter)
|
rs142525551
|
|
NM_016616.5(NME8):c.1689C>T (p.Asn563=)
|
|
|
NM_016616.5(NME8):c.1743C>A (p.Leu581=)
|
|
|
NM_016616.5(NME8):c.1743C>T (p.Leu581=)
|
rs764326102
|
|
NM_016616.5(NME8):c.342C>T (p.Ile114=)
|
|
|
NM_016616.5(NME8):c.416A>T (p.Asp139Val)
|
|
|
NM_016616.5(NME8):c.574C>T (p.Leu192Phe)
|
|
|
NM_017802.4(DNAAF5):c.1000A>C (p.Thr334Pro)
|
rs1184837316
|
|
NM_017802.4(DNAAF5):c.1024+10C>A
|
|
|
NM_017802.4(DNAAF5):c.1024+10C>T
|
rs375071932
|
|
NM_017802.4(DNAAF5):c.1024+11G>A
|
|
|
NM_017802.4(DNAAF5):c.1024+12C>A
|
|
|
NM_017802.4(DNAAF5):c.1024+19G>A
|
|
|
NM_017802.4(DNAAF5):c.1025-14C>T
|
|
|
NM_017802.4(DNAAF5):c.1025-7G>C
|
|
|
NM_017802.4(DNAAF5):c.1025-8C>T
|
|
|
NM_017802.4(DNAAF5):c.1050G>T (p.Arg350=)
|
|
|
NM_017802.4(DNAAF5):c.105G>A (p.Leu35=)
|
|
|
NM_017802.4(DNAAF5):c.1092G>C (p.Leu364=)
|
|
|
NM_017802.4(DNAAF5):c.1131G>T (p.Val377=)
|
|
|
NM_017802.4(DNAAF5):c.114G>T (p.Leu38=)
|
|
|
NM_017802.4(DNAAF5):c.1155G>A (p.Val385=)
|
|
|
NM_017802.4(DNAAF5):c.1170C>T (p.Ala390=)
|
|
|
NM_017802.4(DNAAF5):c.1200C>T (p.Val400=)
|
|
|
NM_017802.4(DNAAF5):c.120C>G (p.Ala40=)
|
|
|
NM_017802.4(DNAAF5):c.1215G>A (p.Leu405=)
|
|
|
NM_017802.4(DNAAF5):c.1257+16C>G
|
|
|
NM_017802.4(DNAAF5):c.1258-11C>T
|
|
|
NM_017802.4(DNAAF5):c.1258-17A>G
|
|
|
NM_017802.4(DNAAF5):c.1258-4G>A
|
rs202056316
|
|
NM_017802.4(DNAAF5):c.1258-4G>T
|
|
|
NM_017802.4(DNAAF5):c.1263C>T (p.Thr421=)
|
|
|
NM_017802.4(DNAAF5):c.1287G>A (p.Thr429=)
|
|
|
NM_017802.4(DNAAF5):c.1290T>C (p.Phe430=)
|
rs2128078886
|
|
NM_017802.4(DNAAF5):c.1311G>C (p.Leu437=)
|
|
|
NM_017802.4(DNAAF5):c.1326G>A (p.Ser442=)
|
|
|
NM_017802.4(DNAAF5):c.1329G>A (p.Thr443=)
|
|
|
NM_017802.4(DNAAF5):c.1350C>G (p.Ala450=)
|
rs2128078908
|
|
NM_017802.4(DNAAF5):c.1353C>T (p.Ser451=)
|
|
|
NM_017802.4(DNAAF5):c.141G>A (p.Arg47=)
|
|
|
NM_017802.4(DNAAF5):c.141G>T (p.Arg47=)
|
|
|
NM_017802.4(DNAAF5):c.1437G>A (p.Leu479=)
|
rs2128078963
|
|
NM_017802.4(DNAAF5):c.1470+12T>G
|
rs2128078986
|
|
NM_017802.4(DNAAF5):c.1470+9A>G
|
|
|
NM_017802.4(DNAAF5):c.1471-7C>T
|
|
|
NM_017802.4(DNAAF5):c.147C>T (p.Ala49=)
|
|
|
NM_017802.4(DNAAF5):c.1488C>T (p.Arg496=)
|
|
|
NM_017802.4(DNAAF5):c.1497G>A (p.Leu499=)
|
|
|
NM_017802.4(DNAAF5):c.1515G>A (p.Val505=)
|
|
|
NM_017802.4(DNAAF5):c.1518T>C (p.Ser506=)
|
|
|
NM_017802.4(DNAAF5):c.1549C>T (p.Leu517=)
|
|
|
NM_017802.4(DNAAF5):c.1563C>T (p.Asp521=)
|
|
|
NM_017802.4(DNAAF5):c.1575A>C (p.Thr525=)
|
rs754710920
|
|
NM_017802.4(DNAAF5):c.15G>C (p.Gly5=)
|
rs1457734920
|
|
NM_017802.4(DNAAF5):c.1614+13G>A
|
|
|
NM_017802.4(DNAAF5):c.1635A>G (p.Ser545=)
|
|
|
NM_017802.4(DNAAF5):c.1641C>T (p.Ala547=)
|
|
|
NM_017802.4(DNAAF5):c.1653T>C (p.Gly551=)
|
|
|
NM_017802.4(DNAAF5):c.169C>T (p.Leu57=)
|
|
|
NM_017802.4(DNAAF5):c.1704G>A (p.Glu568=)
|
rs2128081094
|
|
NM_017802.4(DNAAF5):c.1706G>A (p.Arg569Gln)
|
|
|
NM_017802.4(DNAAF5):c.1713C>G (p.Thr571=)
|
|
|
NM_017802.4(DNAAF5):c.1716G>A (p.Ala572=)
|
rs778984123
|
|
NM_017802.4(DNAAF5):c.1718C>T (p.Ser573Leu)
|
|
|
NM_017802.4(DNAAF5):c.1719G>A (p.Ser573=)
|
|
|
NM_017802.4(DNAAF5):c.1734C>T (p.Thr578=)
|
rs201710687
|
|
NM_017802.4(DNAAF5):c.1773C>A (p.Val591=)
|
rs185154075
|
|
NM_017802.4(DNAAF5):c.1773C>T (p.Val591=)
|
|
|
NM_017802.4(DNAAF5):c.177G>A (p.Glu59=)
|
|
|
NM_017802.4(DNAAF5):c.1783+12C>G
|
|
|
NM_017802.4(DNAAF5):c.1783+13G>T
|
rs201316573
|
|
NM_017802.4(DNAAF5):c.1784-14G>A
|
|
|
NM_017802.4(DNAAF5):c.1784-14_1784-13del
|
rs754684802
|
|
NM_017802.4(DNAAF5):c.1784-19C>T
|
|
|
NM_017802.4(DNAAF5):c.1785C>A (p.Gly595=)
|
|
|
NM_017802.4(DNAAF5):c.1791C>T (p.Ala597=)
|
|
|
NM_017802.4(DNAAF5):c.1815C>G (p.Val605=)
|
|
|
NM_017802.4(DNAAF5):c.1824G>A (p.Thr608=)
|
|
|
NM_017802.4(DNAAF5):c.1839G>A (p.Leu613=)
|
rs751508824
|
|
NM_017802.4(DNAAF5):c.183C>G (p.Gly61=)
|
|
|
NM_017802.4(DNAAF5):c.1848C>T (p.Ser616=)
|
|
|
NM_017802.4(DNAAF5):c.1857G>A (p.Pro619=)
|
|
|
NM_017802.4(DNAAF5):c.1885C>T (p.Leu629=)
|
|
|
NM_017802.4(DNAAF5):c.1893_1895delinsTGC (p.Val632Ala)
|
|
|
NM_017802.4(DNAAF5):c.1931+9G>A
|
|
|
NM_017802.4(DNAAF5):c.1932-14C>T
|
|
|
NM_017802.4(DNAAF5):c.1932-15C>T
|
|
|
NM_017802.4(DNAAF5):c.1932-16_1932-15del
|
|
|
NM_017802.4(DNAAF5):c.1932-20C>T
|
|
|
NM_017802.4(DNAAF5):c.1932-9C>T
|
|
|
NM_017802.4(DNAAF5):c.1956G>A (p.Thr652=)
|
|
|
NM_017802.4(DNAAF5):c.1959G>A (p.Val653=)
|
rs1583517339
|
|
NM_017802.4(DNAAF5):c.1965G>A (p.Lys655=)
|
|
|
NM_017802.4(DNAAF5):c.1977C>G (p.Ala659=)
|
|
|
NM_017802.4(DNAAF5):c.2016C>A (p.Ala672=)
|
|
|
NM_017802.4(DNAAF5):c.2028T>C (p.Ala676=)
|
rs1583517485
|
|
NM_017802.4(DNAAF5):c.2031C>T (p.Ala677=)
|
|
|
NM_017802.4(DNAAF5):c.2067C>T (p.Val689=)
|
|
|
NM_017802.4(DNAAF5):c.2083-17G>A
|
|
|
NM_017802.4(DNAAF5):c.210G>A (p.Gln70=)
|
|
|
NM_017802.4(DNAAF5):c.2119C>T (p.Leu707=)
|
|
|
NM_017802.4(DNAAF5):c.2128C>T (p.Leu710=)
|
|
|
NM_017802.4(DNAAF5):c.213C>T (p.Gly71=)
|
|
|
NM_017802.4(DNAAF5):c.2151G>A (p.Thr717=)
|
|
|
NM_017802.4(DNAAF5):c.2151G>C (p.Thr717=)
|
|
|
NM_017802.4(DNAAF5):c.216C>T (p.Pro72=)
|
|
|
NM_017802.4(DNAAF5):c.2172T>C (p.Ile724=)
|
|
|
NM_017802.4(DNAAF5):c.2178C>T (p.Asn726=)
|
|
|
NM_017802.4(DNAAF5):c.2181G>A (p.Thr727=)
|
rs746205271
|
|
NM_017802.4(DNAAF5):c.2208G>A (p.Thr736=)
|
|
|
NM_017802.4(DNAAF5):c.2217G>A (p.Glu739=)
|
|
|
NM_017802.4(DNAAF5):c.2226C>T (p.Ile742=)
|
|
|
NM_017802.4(DNAAF5):c.2240-18C>T
|
|
|
NM_017802.4(DNAAF5):c.2329G>A (p.Ala777Thr)
|
|
|
NM_017802.4(DNAAF5):c.2364G>A (p.Gln788=)
|
|
|
NM_017802.4(DNAAF5):c.2370G>A (p.Leu790=)
|
|
|
NM_017802.4(DNAAF5):c.2373C>T (p.Tyr791=)
|
|
|
NM_017802.4(DNAAF5):c.237G>A (p.Pro79=)
|
rs2128538246
|
|
NM_017802.4(DNAAF5):c.2385G>A (p.Leu795=)
|
rs112210659
|
|
NM_017802.4(DNAAF5):c.2389C>T (p.His797Tyr)
|
|
|
NM_017802.4(DNAAF5):c.2397C>T (p.Asp799=)
|
|
|
NM_017802.4(DNAAF5):c.2431+10C>T
|
|
|
NM_017802.4(DNAAF5):c.2431+11G>A
|
|
|
NM_017802.4(DNAAF5):c.2431+19G>A
|
|
|
NM_017802.4(DNAAF5):c.24G>A (p.Glu8=)
|
|
|
NM_017802.4(DNAAF5):c.2541T>C (p.His847=)
|
|
|
NM_017802.4(DNAAF5):c.298C>T (p.Leu100=)
|
rs1583467930
|
|
NM_017802.4(DNAAF5):c.309C>A (p.Gly103=)
|
|
|
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.333C>G (p.Arg111=)
|
|
|
NM_017802.4(DNAAF5):c.339C>T (p.Ala113=)
|
|
|
NM_017802.4(DNAAF5):c.345G>A (p.Pro115=)
|
|
|
NM_017802.4(DNAAF5):c.351G>A (p.Leu117=)
|
|
|
NM_017802.4(DNAAF5):c.357C>T (p.Pro119=)
|
|
|
NM_017802.4(DNAAF5):c.360G>C (p.Ala120=)
|
|
|
NM_017802.4(DNAAF5):c.384C>G (p.Pro128=)
|
rs2128538410
|
|
NM_017802.4(DNAAF5):c.387G>A (p.Val129=)
|
|
|
NM_017802.4(DNAAF5):c.432G>T (p.Ala144=)
|
|
|
NM_017802.4(DNAAF5):c.465G>A (p.Leu155=)
|
|
|
NM_017802.4(DNAAF5):c.51G>A (p.Glu17=)
|
|
|
NM_017802.4(DNAAF5):c.522C>T (p.Ser174=)
|
|
|
NM_017802.4(DNAAF5):c.528C>G (p.Leu176=)
|
|
|
NM_017802.4(DNAAF5):c.528C>T (p.Leu176=)
|
|
|
NM_017802.4(DNAAF5):c.543C>G (p.Ala181=)
|
|
|
NM_017802.4(DNAAF5):c.543C>T (p.Ala181=)
|
|
|
NM_017802.4(DNAAF5):c.582G>T (p.Ala194=)
|
|
|
NM_017802.4(DNAAF5):c.595+13G>A
|
|
|
NM_017802.4(DNAAF5):c.595+14G>A
|
|
|
NM_017802.4(DNAAF5):c.595+15C>T
|
|
|
NM_017802.4(DNAAF5):c.595+8C>T
|
|
|
NM_017802.4(DNAAF5):c.596-11C>G
|
|
|
NM_017802.4(DNAAF5):c.596-17G>A
|
rs886038638
|
|
NM_017802.4(DNAAF5):c.596-19G>A
|
|
|
NM_017802.4(DNAAF5):c.596-5C>T
|
|
|
NM_017802.4(DNAAF5):c.615G>A (p.Ser205=)
|
|
|
NM_017802.4(DNAAF5):c.618G>A (p.Glu206=)
|
|
|
NM_017802.4(DNAAF5):c.627C>A (p.Ile209=)
|
|
|
NM_017802.4(DNAAF5):c.627C>T (p.Ile209=)
|
|
|
NM_017802.4(DNAAF5):c.630G>T (p.Gly210=)
|
|
|
NM_017802.4(DNAAF5):c.63G>C (p.Thr21=)
|
|
|
NM_017802.4(DNAAF5):c.696C>T (p.Gly232=)
|
|
|
NM_017802.4(DNAAF5):c.699A>G (p.Ala233=)
|
rs1781504659
|
|
NM_017802.4(DNAAF5):c.69G>A (p.Glu23=)
|
|
|
NM_017802.4(DNAAF5):c.707A>T (p.His236Leu)
|
rs115058579
|
|
NM_017802.4(DNAAF5):c.726C>G (p.Ser242=)
|
|
|
NM_017802.4(DNAAF5):c.771C>T (p.Asp257=)
|
|
|
NM_017802.4(DNAAF5):c.777G>A (p.Pro259=)
|
rs146014916
|
|
NM_017802.4(DNAAF5):c.777G>T (p.Pro259=)
|
|
|
NM_017802.4(DNAAF5):c.780+10G>T
|
|
|
NM_017802.4(DNAAF5):c.780+14C>T
|
|
|
NM_017802.4(DNAAF5):c.781-4G>A
|
|
|
NM_017802.4(DNAAF5):c.781-5del
|
|
|
NM_017802.4(DNAAF5):c.788G>A (p.Arg263Gln)
|
rs201059622
|
|
NM_017802.4(DNAAF5):c.78G>A (p.Glu26=)
|
rs1583467478
|
|
NM_017802.4(DNAAF5):c.792G>A (p.Ala264=)
|
|
|
NM_017802.4(DNAAF5):c.792G>T (p.Ala264=)
|
|
|
NM_017802.4(DNAAF5):c.804G>A (p.Val268=)
|
|
|
NM_017802.4(DNAAF5):c.810C>T (p.Gly270=)
|
|
|
NM_017802.4(DNAAF5):c.819G>A (p.Leu273=)
|
rs2128072827
|
|
NM_017802.4(DNAAF5):c.81G>A (p.Leu27=)
|
|
|
NM_017802.4(DNAAF5):c.865C>T (p.Leu289=)
|
|
|
NM_017802.4(DNAAF5):c.882C>A (p.Leu294=)
|
|
|
NM_017802.4(DNAAF5):c.885C>T (p.Asn295=)
|
|
|
NM_017802.4(DNAAF5):c.903C>G (p.Val301=)
|
rs2128072874
|
|
NM_017802.4(DNAAF5):c.905+14C>T
|
|
|
NM_017802.4(DNAAF5):c.905+19G>A
|
|
|
NM_017802.4(DNAAF5):c.905+7G>A
|
|
|
NM_017802.4(DNAAF5):c.906-14_906-11del
|
rs1444250614
|
|
NM_017802.4(DNAAF5):c.996T>C (p.Pro332=)
|
|
|
NM_017802.4(DNAAF5):c.99C>T (p.Arg33=)
|
|
|
NM_017950.4(CCDC40):c.1014G>A (p.Leu338=)
|
|
|
NM_017950.4(CCDC40):c.102A>G (p.Pro34=)
|
|
|
NM_017950.4(CCDC40):c.1068G>C (p.Ser356=)
|
|
|
NM_017950.4(CCDC40):c.1083G>A (p.Gln361=)
|
rs1598488399
|
|
NM_017950.4(CCDC40):c.1104C>T (p.Ala368=)
|
|
|
NM_017950.4(CCDC40):c.1110C>T (p.Arg370=)
|
|
|
NM_017950.4(CCDC40):c.1137C>T (p.Ala379=)
|
|
|
NM_017950.4(CCDC40):c.1159+13G>A
|
|
|
NM_017950.4(CCDC40):c.1159+15C>T
|
|
|
NM_017950.4(CCDC40):c.1160-13C>T
|
rs2037808461
|
|
NM_017950.4(CCDC40):c.1160-15C>T
|
|
|
NM_017950.4(CCDC40):c.1160-17C>T
|
|
|
NM_017950.4(CCDC40):c.1160-4G>A
|
|
|
NM_017950.4(CCDC40):c.1263G>A (p.Val421=)
|
|
|
NM_017950.4(CCDC40):c.1293G>A (p.Arg431=)
|
|
|
NM_017950.4(CCDC40):c.12G>C (p.Pro4=)
|
|
|
NM_017950.4(CCDC40):c.1317+16G>A
|
|
|
NM_017950.4(CCDC40):c.1318-14A>G
|
|
|
NM_017950.4(CCDC40):c.1318-19T>C
|
|
|
NM_017950.4(CCDC40):c.1318-5C>G
|
|
|
NM_017950.4(CCDC40):c.1326T>C (p.Tyr442=)
|
|
|
NM_017950.4(CCDC40):c.1440+17C>A
|
|
|
NM_017950.4(CCDC40):c.1440+17C>T
|
|
|
NM_017950.4(CCDC40):c.1440+19G>A
|
|
|
NM_017950.4(CCDC40):c.1441-13C>G
|
|
|
NM_017950.4(CCDC40):c.1467C>T (p.Ser489=)
|
rs200154414
|
|
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.1527C>T (p.Arg509=)
|
|
|
NM_017950.4(CCDC40):c.1530C>T (p.Asp510=)
|
|
|
NM_017950.4(CCDC40):c.1536G>A (p.Ala512=)
|
|
|
NM_017950.4(CCDC40):c.1557G>A (p.Ala519=)
|
|
|
NM_017950.4(CCDC40):c.1563-16C>T
|
|
|
NM_017950.4(CCDC40):c.1563-5T>C
|
rs2143733765
|
|
NM_017950.4(CCDC40):c.1602T>A (p.Ile534=)
|
|
|
NM_017950.4(CCDC40):c.1656G>A (p.Ala552=)
|
|
|
NM_017950.4(CCDC40):c.1659C>T (p.Ser553=)
|
|
|
NM_017950.4(CCDC40):c.1662C>A (p.Ile554=)
|
|
|
NM_017950.4(CCDC40):c.1680G>A (p.Thr560=)
|
|
|
NM_017950.4(CCDC40):c.174C>A (p.Thr58=)
|
|
|
NM_017950.4(CCDC40):c.1824G>T (p.Thr608=)
|
rs371383125
|
|
NM_017950.4(CCDC40):c.1848A>G (p.Gln616=)
|
|
|
NM_017950.4(CCDC40):c.18C>T (p.Gly6=)
|
|
|
NM_017950.4(CCDC40):c.1953G>A (p.Gln651=)
|
|
|
NM_017950.4(CCDC40):c.1968G>T (p.Leu656=)
|
|
|
NM_017950.4(CCDC40):c.207G>T (p.Val69=)
|
|
|
NM_017950.4(CCDC40):c.2160G>A (p.Thr720=)
|
|
|
NM_017950.4(CCDC40):c.2169C>A (p.Ile723=)
|
|
|
NM_017950.4(CCDC40):c.2169C>T (p.Ile723=)
|
rs200641382
|
|
NM_017950.4(CCDC40):c.2211G>T (p.Leu737=)
|
|
|
NM_017950.4(CCDC40):c.2235+11A>G
|
|
|
NM_017950.4(CCDC40):c.2236-6G>A
|
rs1402665990
|
|
NM_017950.4(CCDC40):c.2236-8C>T
|
|
|
NM_017950.4(CCDC40):c.225A>G (p.Ala75=)
|
|
|
NM_017950.4(CCDC40):c.2289C>T (p.Ile763=)
|
|
|
NM_017950.4(CCDC40):c.240A>G (p.Glu80=)
|
rs2143576891
|
|
NM_017950.4(CCDC40):c.2449+12C>T
|
|
|
NM_017950.4(CCDC40):c.2449+13G>A
|
|
|
NM_017950.4(CCDC40):c.2449+15G>A
|
|
|
NM_017950.4(CCDC40):c.2449+9C>T
|
|
|
NM_017950.4(CCDC40):c.2450-4A>G
|
|
|
NM_017950.4(CCDC40):c.2472G>A (p.Lys824=)
|
|
|
NM_017950.4(CCDC40):c.2506C>T (p.Leu836=)
|
|
|
NM_017950.4(CCDC40):c.2514C>T (p.Asn838=)
|
|
|
NM_017950.4(CCDC40):c.2562G>A (p.Ser854=)
|
rs760217617
|
|
NM_017950.4(CCDC40):c.2571G>A (p.Leu857=)
|
|
|
NM_017950.4(CCDC40):c.2592A>G (p.Thr864=)
|
|
|
NM_017950.4(CCDC40):c.2610C>G (p.Arg870=)
|
|
|
NM_017950.4(CCDC40):c.2613G>A (p.Ser871=)
|
|
|
NM_017950.4(CCDC40):c.2614C>T (p.Leu872=)
|
rs1351266176
|
|
NM_017950.4(CCDC40):c.2619+10T>C
|
|
|
NM_017950.4(CCDC40):c.2619+16C>T
|
|
|
NM_017950.4(CCDC40):c.2619+17G>A
|
|
|
NM_017950.4(CCDC40):c.2619+17G>T
|
|
|
NM_017950.4(CCDC40):c.2619+19A>G
|
|
|
NM_017950.4(CCDC40):c.2670C>T (p.Ser890=)
|
rs371516381
|
|
NM_017950.4(CCDC40):c.267T>C (p.Ala89=)
|
|
|
NM_017950.4(CCDC40):c.2711+11G>T
|
rs1434924240
|
|
NM_017950.4(CCDC40):c.2712-17C>T
|
|
|
NM_017950.4(CCDC40):c.2727T>C (p.Leu909=)
|
rs1555593479
|
|
NM_017950.4(CCDC40):c.2778C>T (p.Ser926=)
|
|
|
NM_017950.4(CCDC40):c.2832+16C>T
|
|
|
NM_017950.4(CCDC40):c.2832+17G>A
|
|
|
NM_017950.4(CCDC40):c.2874C>T (p.Ile958=)
|
|
|
NM_017950.4(CCDC40):c.288C>T (p.Tyr96=)
|
|
|
NM_017950.4(CCDC40):c.29+12C>G
|
|
|
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.2925C>G (p.Ala975=)
|
|
|
NM_017950.4(CCDC40):c.2931G>T (p.Gly977=)
|
|
|
NM_017950.4(CCDC40):c.2967C>G (p.Thr989=)
|
rs199575834
|
|
NM_017950.4(CCDC40):c.30-7A>C
|
|
|
NM_017950.4(CCDC40):c.3022-4C>G
|
|
|
NM_017950.4(CCDC40):c.3022-6T>C
|
|
|
NM_017950.4(CCDC40):c.3027C>A (p.Thr1009=)
|
|
|
NM_017950.4(CCDC40):c.3063A>G (p.Glu1021=)
|
|
|
NM_017950.4(CCDC40):c.3093A>C (p.Leu1031=)
|
|
|
NM_017950.4(CCDC40):c.309G>A (p.Pro103=)
|
|
|
NM_017950.4(CCDC40):c.3132C>T (p.Phe1044=)
|
|
|
NM_017950.4(CCDC40):c.3138A>T (p.Thr1046=)
|
|
|
NM_017950.4(CCDC40):c.3159G>T (p.Arg1053=)
|
|
|
NM_017950.4(CCDC40):c.3181-4C>A
|
|
|
NM_017950.4(CCDC40):c.3181-4C>G
|
|
|
NM_017950.4(CCDC40):c.3198G>A (p.Val1066=)
|
|
|
NM_017950.4(CCDC40):c.3240G>A (p.Glu1080=)
|
|
|
NM_017950.4(CCDC40):c.3255C>T (p.Phe1085=)
|
|
|
NM_017950.4(CCDC40):c.327T>C (p.Ala109=)
|
|
|
NM_017950.4(CCDC40):c.3291C>T (p.Arg1097=)
|
|
|
NM_017950.4(CCDC40):c.3298C>T (p.Leu1100=)
|
|
|
NM_017950.4(CCDC40):c.3321C>T (p.Ile1107=)
|
|
|
NM_017950.4(CCDC40):c.3343C>A (p.Arg1115=)
|
|
|
NM_017950.4(CCDC40):c.3363C>T (p.Phe1121=)
|
|
|
NM_017950.4(CCDC40):c.336G>T (p.Thr112=)
|
|
|
NM_017950.4(CCDC40):c.3408C>G (p.Leu1136=)
|
rs186591691
|
|
NM_017950.4(CCDC40):c.345G>A (p.Pro115=)
|
|
|
NM_017950.4(CCDC40):c.390T>C (p.Asp130=)
|
|
|
NM_017950.4(CCDC40):c.408T>C (p.Ala136=)
|
|
|
NM_017950.4(CCDC40):c.414C>T (p.Leu138=)
|
|
|
NM_017950.4(CCDC40):c.462G>A (p.Arg154=)
|
|
|
NM_017950.4(CCDC40):c.489C>T (p.His163=)
|
|
|
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)
|
|
|
NM_017950.4(CCDC40):c.504G>T (p.Pro168=)
|
|
|
NM_017950.4(CCDC40):c.534G>A (p.Gly178=)
|
rs2143578294
|
|
NM_017950.4(CCDC40):c.553-10C>G
|
|
|
NM_017950.4(CCDC40):c.564A>G (p.Thr188=)
|
rs2037448406
|
|
NM_017950.4(CCDC40):c.672G>A (p.Glu224=)
|
|
|
NM_017950.4(CCDC40):c.676+9C>A
|
|
|
NM_017950.4(CCDC40):c.677-16C>T
|
|
|
NM_017950.4(CCDC40):c.677-18C>T
|
|
|
NM_017950.4(CCDC40):c.677-4C>A
|
|
|
NM_017950.4(CCDC40):c.690G>T (p.Gly230=)
|
rs750834095
|
|
NM_017950.4(CCDC40):c.69G>A (p.Lys23=)
|
|
|
NM_017950.4(CCDC40):c.705C>T (p.His235=)
|
|
|
NM_017950.4(CCDC40):c.756C>T (p.Ser252=)
|
|
|
NM_017950.4(CCDC40):c.792C>T (p.Ser264=)
|
|
|
NM_017950.4(CCDC40):c.832C>T (p.Leu278=)
|
|
|
NM_017950.4(CCDC40):c.855+12T>A
|
|
|
NM_017950.4(CCDC40):c.855+20_855+24del
|
rs2037498801
|
|
NM_017950.4(CCDC40):c.856-9T>C
|
rs1193011376
|
|
NM_017950.4(CCDC40):c.867A>G (p.Val289=)
|
rs1386295352
|
|
NM_017950.4(CCDC40):c.93+14T>C
|
|
|
NM_017950.4(CCDC40):c.93+15G>A
|
|
|
NM_017950.4(CCDC40):c.93+20G>A
|
|
|
NM_017950.4(CCDC40):c.93+7T>C
|
|
|
NM_017950.4(CCDC40):c.939+10C>T
|
|
|
NM_017950.4(CCDC40):c.939+13C>G
|
|
|
NM_017950.4(CCDC40):c.94-12A>G
|
|
|
NM_018076.5(ODAD2):c.1320T>C (p.Arg440=)
|
|
|
NM_018076.5(ODAD2):c.1344A>C (p.Pro448=)
|
|
|
NM_018076.5(ODAD2):c.1752A>G (p.Leu584=)
|
|
|
NM_018076.5(ODAD2):c.1908G>A (p.Leu636=)
|
|
|
NM_018076.5(ODAD2):c.2031C>T (p.Asn677=)
|
rs1022012517
|
|
NM_018076.5(ODAD2):c.2154C>T (p.Pro718=)
|
|
|
NM_018076.5(ODAD2):c.2190G>A (p.Glu730=)
|
|
|
NM_018076.5(ODAD2):c.2306C>A (p.Pro769His)
|
|
|
NM_018076.5(ODAD2):c.2571C>T (p.Ser857=)
|
|
|
NM_018076.5(ODAD2):c.27G>T (p.Thr9=)
|
|
|
NM_018076.5(ODAD2):c.3069T>C (p.Ala1023=)
|
rs546928912
|
|
NM_018076.5(ODAD2):c.3108T>C (p.Leu1036=)
|
|
|
NM_018076.5(ODAD2):c.534G>A (p.Leu178=)
|
|
|
NM_018076.5(ODAD2):c.690A>G (p.Glu230=)
|
|
|
NM_018076.5(ODAD2):c.699T>C (p.Asn233=)
|
|
|
NM_018076.5(ODAD2):c.731G>A (p.Arg244His)
|
|
|
NM_018076.5(ODAD2):c.843C>T (p.Asp281=)
|
|
|
NM_018139.3(DNAAF2):c.1044G>A (p.Val348=)
|
|
|
NM_018139.3(DNAAF2):c.1047G>A (p.Val349=)
|
|
|
NM_018139.3(DNAAF2):c.1053G>A (p.Pro351=)
|
|
|
NM_018139.3(DNAAF2):c.1056C>T (p.Ala352=)
|
|
|
NM_018139.3(DNAAF2):c.1068G>A (p.Glu356=)
|
|
|
NM_018139.3(DNAAF2):c.1113C>T (p.Asp371=)
|
|
|
NM_018139.3(DNAAF2):c.1119C>T (p.Ser373=)
|
|
|
NM_018139.3(DNAAF2):c.1131C>T (p.Gly377=)
|
rs1883250866
|
|
NM_018139.3(DNAAF2):c.1176G>A (p.Arg392=)
|
|
|
NM_018139.3(DNAAF2):c.1194A>C (p.Gly398=)
|
|
|
NM_018139.3(DNAAF2):c.1197C>T (p.Gly399=)
|
rs746701668
|
|
NM_018139.3(DNAAF2):c.1218G>A (p.Gly406=)
|
|
|
NM_018139.3(DNAAF2):c.1230C>T (p.Ser410=)
|
rs1362062295
|
|
NM_018139.3(DNAAF2):c.1239C>T (p.Thr413=)
|
|
|
NM_018139.3(DNAAF2):c.12G>A (p.Ala4=)
|
|
|
NM_018139.3(DNAAF2):c.1314G>A (p.Gln438=)
|
|
|
NM_018139.3(DNAAF2):c.1344G>A (p.Pro448=)
|
|
|
NM_018139.3(DNAAF2):c.1386T>A (p.Pro462=)
|
|
|
NM_018139.3(DNAAF2):c.1389T>C (p.Gly463=)
|
|
|
NM_018139.3(DNAAF2):c.1398C>T (p.Gly466=)
|
|
|
NM_018139.3(DNAAF2):c.1416C>T (p.Ser472=)
|
rs1420073386
|
|
NM_018139.3(DNAAF2):c.1443G>A (p.Ala481=)
|
|
|
NM_018139.3(DNAAF2):c.1443G>C (p.Ala481=)
|
|
|
NM_018139.3(DNAAF2):c.1443G>T (p.Ala481=)
|
|
|
NM_018139.3(DNAAF2):c.144C>T (p.Asn48=)
|
rs116185352
|
|
NM_018139.3(DNAAF2):c.1458G>A (p.Ala486=)
|
|
|
NM_018139.3(DNAAF2):c.1506C>T (p.Gly502=)
|
|
|
NM_018139.3(DNAAF2):c.1545C>G (p.Thr515=)
|
|
|
NM_018139.3(DNAAF2):c.1554G>A (p.Gly518=)
|
|
|
NM_018139.3(DNAAF2):c.1572G>C (p.Pro524=)
|
|
|
NM_018139.3(DNAAF2):c.1576C>T (p.Leu526=)
|
rs2139580929
|
|
NM_018139.3(DNAAF2):c.1582A>C (p.Asn528His)
|
|
|
NM_018139.3(DNAAF2):c.1587G>A (p.Gln529=)
|
|
|
NM_018139.3(DNAAF2):c.1596A>G (p.Glu532=)
|
rs374369407
|
|
NM_018139.3(DNAAF2):c.159G>A (p.Glu53=)
|
rs2139584413
|
|
NM_018139.3(DNAAF2):c.1605T>G (p.Thr535=)
|
|
|
NM_018139.3(DNAAF2):c.1614T>C (p.Ile538=)
|
|
|
NM_018139.3(DNAAF2):c.1635G>T (p.Pro545=)
|
|
|
NM_018139.3(DNAAF2):c.1638A>G (p.Gln546=)
|
|
|
NM_018139.3(DNAAF2):c.1689A>C (p.Ala563=)
|
|
|
NM_018139.3(DNAAF2):c.1707C>A (p.Ser569=)
|
|
|
NM_018139.3(DNAAF2):c.1779T>C (p.Asn593=)
|
|
|
NM_018139.3(DNAAF2):c.1806A>G (p.Pro602=)
|
|
|
NM_018139.3(DNAAF2):c.1812C>T (p.Ser604=)
|
|
|
NM_018139.3(DNAAF2):c.1839T>C (p.Tyr613=)
|
|
|
NM_018139.3(DNAAF2):c.1863+19G>A
|
|
|
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=)
|
|
|
NM_018139.3(DNAAF2):c.1911G>A (p.Glu637=)
|
|
|
NM_018139.3(DNAAF2):c.1914C>T (p.Val638=)
|
|
|
NM_018139.3(DNAAF2):c.192G>A (p.Gly64=)
|
|
|
NM_018139.3(DNAAF2):c.1944C>G (p.Ser648=)
|
|
|
NM_018139.3(DNAAF2):c.2001T>C (p.Asn667=)
|
|
|
NM_018139.3(DNAAF2):c.2007+10T>C
|
|
|
NM_018139.3(DNAAF2):c.2008-12C>G
|
|
|
NM_018139.3(DNAAF2):c.2008-19G>A
|
|
|
NM_018139.3(DNAAF2):c.2035C>T (p.Leu679=)
|
|
|
NM_018139.3(DNAAF2):c.2046G>A (p.Lys682=)
|
|
|
NM_018139.3(DNAAF2):c.2148A>C (p.Ala716=)
|
|
|
NM_018139.3(DNAAF2):c.2178A>G (p.Thr726=)
|
rs779403171
|
|
NM_018139.3(DNAAF2):c.2211A>G (p.Gln737=)
|
|
|
NM_018139.3(DNAAF2):c.228T>C (p.His76=)
|
|
|
NM_018139.3(DNAAF2):c.2364A>G (p.Ser788=)
|
|
|
NM_018139.3(DNAAF2):c.2373C>T (p.Asn791=)
|
|
|
NM_018139.3(DNAAF2):c.237C>T (p.Arg79=)
|
|
|
NM_018139.3(DNAAF2):c.2421C>G (p.Thr807=)
|
|
|
NM_018139.3(DNAAF2):c.2460T>C (p.His820=)
|
rs909774302
|
|
NM_018139.3(DNAAF2):c.2499A>G (p.Leu833=)
|
|
|
NM_018139.3(DNAAF2):c.2514A>G (p.Ter838=)
|
|
|
NM_018139.3(DNAAF2):c.300G>A (p.Ala100=)
|
rs1566513551
|
|
NM_018139.3(DNAAF2):c.306C>T (p.Ser102=)
|
rs1555328112
|
|
NM_018139.3(DNAAF2):c.309C>T (p.Ser103=)
|
|
|
NM_018139.3(DNAAF2):c.315C>G (p.Pro105=)
|
|
|
NM_018139.3(DNAAF2):c.321C>G (p.Ser107=)
|
|
|
NM_018139.3(DNAAF2):c.327C>G (p.Gly109=)
|
rs914228343
|
|
NM_018139.3(DNAAF2):c.363G>C (p.Leu121=)
|
rs533083141
|
|
NM_018139.3(DNAAF2):c.381C>T (p.Pro127=)
|
|
|
NM_018139.3(DNAAF2):c.384C>T (p.Gly128=)
|
|
|
NM_018139.3(DNAAF2):c.396G>A (p.Ala132=)
|
rs1594609626
|
|
NM_018139.3(DNAAF2):c.396G>C (p.Ala132=)
|
|
|
NM_018139.3(DNAAF2):c.465G>A (p.Arg155=)
|
|
|
NM_018139.3(DNAAF2):c.480C>T (p.Phe160=)
|
|
|
NM_018139.3(DNAAF2):c.501G>A (p.Thr167=)
|
rs1179653801
|
|
NM_018139.3(DNAAF2):c.505C>T (p.Leu169=)
|
|
|
NM_018139.3(DNAAF2):c.549G>A (p.Arg183=)
|
|
|
NM_018139.3(DNAAF2):c.582G>A (p.Gly194=)
|
rs532979117
|
|
NM_018139.3(DNAAF2):c.582G>C (p.Gly194=)
|
rs532979117
|
|
NM_018139.3(DNAAF2):c.588A>T (p.Pro196=)
|
|
|
NM_018139.3(DNAAF2):c.600G>A (p.Val200=)
|
|
|
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.645G>A (p.Gly215=)
|
|
|
NM_018139.3(DNAAF2):c.651G>C (p.Pro217=)
|
rs747603885
|
|
NM_018139.3(DNAAF2):c.660T>C (p.Pro220=)
|
rs2139583283
|
|
NM_018139.3(DNAAF2):c.675C>T (p.Pro225=)
|
|
|
NM_018139.3(DNAAF2):c.678C>T (p.Tyr226=)
|
|
|
NM_018139.3(DNAAF2):c.681T>A (p.Pro227=)
|
|
|
NM_018139.3(DNAAF2):c.705G>A (p.Gly235=)
|
|
|
NM_018139.3(DNAAF2):c.732G>A (p.Ala244=)
|
|
|
NM_018139.3(DNAAF2):c.78C>G (p.Ala26=)
|
rs7156297
|
|
NM_018139.3(DNAAF2):c.805C>G (p.Arg269Gly)
|
|
|
NM_018139.3(DNAAF2):c.810C>T (p.Cys270=)
|
|
|
NM_018139.3(DNAAF2):c.834C>G (p.Pro278=)
|
|
|
NM_018139.3(DNAAF2):c.882G>C (p.Ser294=)
|
|
|
NM_018139.3(DNAAF2):c.882G>T (p.Ser294=)
|
|
|
NM_018719.5(CDCA7L):c.*1320G>A
|
|
|
NM_018719.5(CDCA7L):c.*1321G>A
|
|
|
NM_018719.5(CDCA7L):c.*1322C>A
|
|
|
NM_018719.5(CDCA7L):c.*1328C>G
|
|
|
NM_018719.5(CDCA7L):c.*1328CA[1]
|
|
|
NM_018719.5(CDCA7L):c.*1330C>T
|
|
|
NM_018719.5(CDCA7L):c.*1333_*1334del
|
|
|
NM_018719.5(CDCA7L):c.*1334G>A
|
rs141951506
|
|
NM_018719.5(CDCA7L):c.*1334G>C
|
|
|
NM_018719.5(CDCA7L):c.*1334G>T
|
|
|
NM_018719.5(CDCA7L):c.*1335G>A
|
|
|
NM_018719.5(CDCA7L):c.*1335G>T
|
|
|
NM_018719.5(CDCA7L):c.*879G>C
|
rs62445901
|
|
NM_021147.5(CCNO):c.1017C>T (p.Ile339=)
|
|
|
NM_021147.5(CCNO):c.111C>T (p.Leu37=)
|
|
|
NM_021147.5(CCNO):c.135C>T (p.Pro45=)
|
|
|
NM_021147.5(CCNO):c.153C>G (p.Leu51=)
|
|
|
NM_021147.5(CCNO):c.156G>T (p.Pro52=)
|
|
|
NM_021147.5(CCNO):c.18C>A (p.Pro6=)
|
|
|
NM_021147.5(CCNO):c.231G>A (p.Ala77=)
|
|
|
NM_021147.5(CCNO):c.247C>T (p.Leu83=)
|
|
|
NM_021147.5(CCNO):c.285A>G (p.Leu95=)
|
|
|
NM_021147.5(CCNO):c.327C>A (p.Arg109=)
|
|
|
NM_021147.5(CCNO):c.333G>T (p.Ala111=)
|
|
|
NM_021147.5(CCNO):c.342C>T (p.Ser114=)
|
rs2111721591
|
|
NM_021147.5(CCNO):c.36C>A (p.Pro12=)
|
rs777965356
|
|
NM_021147.5(CCNO):c.382-14C>A
|
|
|
NM_021147.5(CCNO):c.382-14C>T
|
rs72749883
|
|
NM_021147.5(CCNO):c.382-15C>G
|
|
|
NM_021147.5(CCNO):c.382-4G>A
|
rs2111718851
|
|
NM_021147.5(CCNO):c.382-8C>T
|
|
|
NM_021147.5(CCNO):c.426G>T (p.Pro142=)
|
rs1580411138
|
|
NM_021147.5(CCNO):c.435C>T (p.Arg145=)
|
rs1554020005
|
|
NM_021147.5(CCNO):c.453C>T (p.Phe151=)
|
|
|
NM_021147.5(CCNO):c.460C>T (p.Leu154=)
|
|
|
NM_021147.5(CCNO):c.462G>A (p.Leu154=)
|
|
|
NM_021147.5(CCNO):c.525C>T (p.Phe175=)
|
rs1580410902
|
|
NM_021147.5(CCNO):c.568-16del
|
|
|
NM_021147.5(CCNO):c.630G>T (p.Arg210=)
|
|
|
NM_021147.5(CCNO):c.660G>T (p.Val220=)
|
|
|
NM_021147.5(CCNO):c.828C>T (p.Thr276=)
|
|
|
NM_021147.5(CCNO):c.837C>A (p.Ser279=)
|
rs569924543
|
|
NM_021147.5(CCNO):c.846C>T (p.Leu282=)
|
|
|
NM_021147.5(CCNO):c.84G>A (p.Pro28=)
|
|
|
NM_021147.5(CCNO):c.996T>C (p.Thr332=)
|
rs1210789924
|
|
NM_021147.5(CCNO):c.9C>A (p.Thr3=)
|
|
|
NM_023036.6(DNAI2):c.1005G>C (p.Val335=)
|
|
|
NM_023036.6(DNAI2):c.1005G>T (p.Val335=)
|
rs1598329997
|
|
NM_023036.6(DNAI2):c.1008G>T (p.Gly336=)
|
|
|
NM_023036.6(DNAI2):c.1011C>A (p.Thr337=)
|
|
|
NM_023036.6(DNAI2):c.1026C>G (p.Val342=)
|
rs2144075616
|
|
NM_023036.6(DNAI2):c.1047C>T (p.Ala349=)
|
|
|
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=)
|
|
|
NM_023036.6(DNAI2):c.1095C>G (p.Gly365=)
|
|
|
NM_023036.6(DNAI2):c.1113G>A (p.Gln371=)
|
|
|
NM_023036.6(DNAI2):c.111G>A (p.Leu37=)
|
rs374070900
|
|
NM_023036.6(DNAI2):c.1122C>T (p.Pro374=)
|
|
|
NM_023036.6(DNAI2):c.1125C>T (p.Phe375=)
|
rs2144076662
|
|
NM_023036.6(DNAI2):c.1134G>A (p.Lys378=)
|
|
|
NM_023036.6(DNAI2):c.1137C>T (p.Asn379=)
|
|
|
NM_023036.6(DNAI2):c.1140C>T (p.Phe380=)
|
rs868645915
|
|
NM_023036.6(DNAI2):c.1141C>T (p.Leu381=)
|
|
|
NM_023036.6(DNAI2):c.1146G>C (p.Thr382=)
|
|
|
NM_023036.6(DNAI2):c.114C>G (p.Ala38=)
|
rs763489979
|
|
NM_023036.6(DNAI2):c.114C>T (p.Ala38=)
|
|
|
NM_023036.6(DNAI2):c.1152C>T (p.Gly384=)
|
|
|
NM_023036.6(DNAI2):c.1155C>T (p.Asp385=)
|
|
|
NM_023036.6(DNAI2):c.1161A>G (p.Thr387=)
|
|
|
NM_023036.6(DNAI2):c.1167C>A (p.Arg389=)
|
rs1463518851
|
|
NM_023036.6(DNAI2):c.1182C>T (p.Asp394=)
|
|
|
NM_023036.6(DNAI2):c.1186C>A (p.Arg396=)
|
rs758643189
|
|
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=)
|
|
|
NM_023036.6(DNAI2):c.120G>A (p.Gln40=)
|
|
|
NM_023036.6(DNAI2):c.1211+10G>A
|
|
|
NM_023036.6(DNAI2):c.1211+17G>T
|
|
|
NM_023036.6(DNAI2):c.1211+7G>A
|
|
|
NM_023036.6(DNAI2):c.1211+7G>C
|
|
|
NM_023036.6(DNAI2):c.1211+9C>G
|
|
|
NM_023036.6(DNAI2):c.1212-17T>C
|
rs2144104801
|
|
NM_023036.6(DNAI2):c.1212-19T>A
|
|
|
NM_023036.6(DNAI2):c.1212-20_1212-19del
|
|
|
NM_023036.6(DNAI2):c.1212-23_1212-9del
|
|
|
NM_023036.6(DNAI2):c.1212-7C>T
|
rs1598339876
|
|
NM_023036.6(DNAI2):c.1212-9C>T
|
rs2144104892
|
|
NM_023036.6(DNAI2):c.1227C>T (p.Tyr409=)
|
|
|
NM_023036.6(DNAI2):c.1236T>C (p.Asp412=)
|
|
|
NM_023036.6(DNAI2):c.1239T>C (p.Ala413=)
|
|
|
NM_023036.6(DNAI2):c.123C>T (p.Phe41=)
|
rs542439989
|
|
NM_023036.6(DNAI2):c.1248C>T (p.Ser416=)
|
rs886053378
|
|
NM_023036.6(DNAI2):c.1260G>T (p.Pro420=)
|
rs200043910
|
|
NM_023036.6(DNAI2):c.1263C>A (p.Thr421=)
|
rs771686170
|
|
NM_023036.6(DNAI2):c.1263C>G (p.Thr421=)
|
rs771686170
|
|
NM_023036.6(DNAI2):c.1263C>T (p.Thr421=)
|
|
|
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>T (p.Asp429=)
|
rs372940037
|
|
NM_023036.6(DNAI2):c.1293C>A (p.Thr431=)
|
rs2144105751
|
|
NM_023036.6(DNAI2):c.1299T>C (p.Asp433=)
|
rs2144105794
|
|
NM_023036.6(DNAI2):c.12G>T (p.Val4=)
|
|
|
NM_023036.6(DNAI2):c.1317C>T (p.Phe439=)
|
rs199524166
|
|
NM_023036.6(DNAI2):c.1323G>A (p.Gln441=)
|
|
|
NM_023036.6(DNAI2):c.1338C>G (p.Leu446=)
|
rs1246377044
|
|
NM_023036.6(DNAI2):c.1338C>T (p.Leu446=)
|
|
|
NM_023036.6(DNAI2):c.1347+10A>G
|
|
|
NM_023036.6(DNAI2):c.1347+12G>A
|
|
|
NM_023036.6(DNAI2):c.1347+13T>A
|
|
|
NM_023036.6(DNAI2):c.1347+14C>A
|
|
|
NM_023036.6(DNAI2):c.1347+18C>T
|
|
|
NM_023036.6(DNAI2):c.1347+19C>T
|
|
|
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
|
|
|
NM_023036.6(DNAI2):c.1348-14G>T
|
|
|
NM_023036.6(DNAI2):c.1348-15C>G
|
rs755825865
|
|
NM_023036.6(DNAI2):c.1348-15C>T
|
|
|
NM_023036.6(DNAI2):c.1348-16C>T
|
|
|
NM_023036.6(DNAI2):c.1348-18G>T
|
|
|
NM_023036.6(DNAI2):c.1348-6C>T
|
rs2144112203
|
|
NM_023036.6(DNAI2):c.1350G>T (p.Val450=)
|
rs2144112278
|
|
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.1389T>C (p.Asn463=)
|
rs1598342483
|
|
NM_023036.6(DNAI2):c.1398C>T (p.Leu466=)
|
|
|
NM_023036.6(DNAI2):c.1416G>A (p.Gln472=)
|
|
|
NM_023036.6(DNAI2):c.1419G>A (p.Leu473=)
|
|
|
NM_023036.6(DNAI2):c.1422G>A (p.Gly474=)
|
|
|
NM_023036.6(DNAI2):c.1428C>G (p.Thr476=)
|
|
|
NM_023036.6(DNAI2):c.1437G>A (p.Leu479=)
|
rs1356113280
|
|
NM_023036.6(DNAI2):c.1440G>A (p.Glu480=)
|
|
|
NM_023036.6(DNAI2):c.1446G>A (p.Ser482=)
|
rs368217836
|
|
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.1455C>G (p.Leu485=)
|
rs901923607
|
|
NM_023036.6(DNAI2):c.1458T>C (p.Ser486=)
|
|
|
NM_023036.6(DNAI2):c.1461C>T (p.Thr487=)
|
|
|
NM_023036.6(DNAI2):c.1473T>C (p.Asn491=)
|
|
|
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
|
|
|
NM_023036.6(DNAI2):c.1494+18G>A
|
|
|
NM_023036.6(DNAI2):c.1494+20G>A
|
|
|
NM_023036.6(DNAI2):c.1494+7A>G
|
rs2144113793
|
|
NM_023036.6(DNAI2):c.1495-10G>C
|
rs762668832
|
|
NM_023036.6(DNAI2):c.1495-12C>G
|
|
|
NM_023036.6(DNAI2):c.1495-12C>T
|
|
|
NM_023036.6(DNAI2):c.1495-13C>G
|
|
|
NM_023036.6(DNAI2):c.1495-14C>G
|
|
|
NM_023036.6(DNAI2):c.1495-14C>T
|
|
|
NM_023036.6(DNAI2):c.1495-4C>T
|
|
|
NM_023036.6(DNAI2):c.1506T>C (p.Arg502=)
|
rs1060504506
|
|
NM_023036.6(DNAI2):c.1509G>A (p.Glu503=)
|
|
|
NM_023036.6(DNAI2):c.1512C>G (p.Thr504=)
|
|
|
NM_023036.6(DNAI2):c.1512C>T (p.Thr504=)
|
rs1273766803
|
|
NM_023036.6(DNAI2):c.1515G>A (p.Arg505=)
|
|
|
NM_023036.6(DNAI2):c.1527C>A (p.Ile509=)
|
rs1395585835
|
|
NM_023036.6(DNAI2):c.1552C>A (p.Arg518=)
|
|
|
NM_023036.6(DNAI2):c.1557G>A (p.Leu519=)
|
rs1223294262
|
|
NM_023036.6(DNAI2):c.1557G>T (p.Leu519=)
|
|
|
NM_023036.6(DNAI2):c.1599C>A (p.Thr533=)
|
|
|
NM_023036.6(DNAI2):c.1599C>G (p.Thr533=)
|
|
|
NM_023036.6(DNAI2):c.1611G>T (p.Leu537=)
|
|
|
NM_023036.6(DNAI2):c.1626G>A (p.Glu542=)
|
rs1357252118
|
|
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.1653G>A (p.Glu551=)
|
|
|
NM_023036.6(DNAI2):c.165C>T (p.Ile55=)
|
|
|
NM_023036.6(DNAI2):c.1665C>A (p.Ile555=)
|
|
|
NM_023036.6(DNAI2):c.1674A>G (p.Ala558=)
|
|
|
NM_023036.6(DNAI2):c.1713G>C (p.Thr571=)
|
rs377499410
|
|
NM_023036.6(DNAI2):c.1716A>C (p.Pro572=)
|
|
|
NM_023036.6(DNAI2):c.1722+10T>C
|
|
|
NM_023036.6(DNAI2):c.1722+14C>T
|
|
|
NM_023036.6(DNAI2):c.1722+15A>G
|
|
|
NM_023036.6(DNAI2):c.1722+15_1722+16del
|
|
|
NM_023036.6(DNAI2):c.1722+8C>A
|
rs1385576590
|
|
NM_023036.6(DNAI2):c.1723-17G>A
|
|
|
NM_023036.6(DNAI2):c.1723-19G>A
|
|
|
NM_023036.6(DNAI2):c.1723-20T>C
|
|
|
NM_023036.6(DNAI2):c.1723-4G>A
|
rs2144147476
|
|
NM_023036.6(DNAI2):c.1723-5T>C
|
|
|
NM_023036.6(DNAI2):c.1723-9C>G
|
|
|
NM_023036.6(DNAI2):c.1737A>G (p.Pro579=)
|
|
|
NM_023036.6(DNAI2):c.1749G>A (p.Gln583=)
|
|
|
NM_023036.6(DNAI2):c.1761G>A (p.Glu587=)
|
rs1598353611
|
|
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.1788G>C (p.Gly596=)
|
rs926548169
|
|
NM_023036.6(DNAI2):c.1794A>G (p.Glu598=)
|
rs2144148291
|
|
NM_023036.6(DNAI2):c.1806A>G (p.Glu602=)
|
rs1375459041
|
|
NM_023036.6(DNAI2):c.180C>T (p.His60=)
|
|
|
NM_023036.6(DNAI2):c.1818G>A (p.Ter606=)
|
|
|
NM_023036.6(DNAI2):c.183+12C>T
|
|
|
NM_023036.6(DNAI2):c.183+14C>T
|
|
|
NM_023036.6(DNAI2):c.183+15C>T
|
|
|
NM_023036.6(DNAI2):c.183+20G>T
|
|
|
NM_023036.6(DNAI2):c.184-13G>A
|
|
|
NM_023036.6(DNAI2):c.184-15C>T
|
|
|
NM_023036.6(DNAI2):c.184-20T>G
|
|
|
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=)
|
|
|
NM_023036.6(DNAI2):c.196C>A (p.Arg66=)
|
rs371226659
|
|
NM_023036.6(DNAI2):c.198G>A (p.Arg66=)
|
rs763731811
|
|
NM_023036.6(DNAI2):c.213C>T (p.Thr71=)
|
|
|
NM_023036.6(DNAI2):c.225C>T (p.Asn75=)
|
|
|
NM_023036.6(DNAI2):c.228T>C (p.His76=)
|
|
|
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=)
|
|
|
NM_023036.6(DNAI2):c.300G>A (p.Val100=)
|
|
|
NM_023036.6(DNAI2):c.300G>C (p.Val100=)
|
|
|
NM_023036.6(DNAI2):c.303G>A (p.Glu101=)
|
rs199535813
|
|
NM_023036.6(DNAI2):c.30G>A (p.Lys10=)
|
|
|
NM_023036.6(DNAI2):c.336G>A (p.Gln112=)
|
rs751496866
|
|
NM_023036.6(DNAI2):c.339C>G (p.Leu113=)
|
|
|
NM_023036.6(DNAI2):c.339C>T (p.Leu113=)
|
rs957243389
|
|
NM_023036.6(DNAI2):c.33C>A (p.Arg11=)
|
|
|
NM_023036.6(DNAI2):c.33C>T (p.Arg11=)
|
rs2143873820
|
|
NM_023036.6(DNAI2):c.342C>T (p.Gly114=)
|
rs757494255
|
|
NM_023036.6(DNAI2):c.345+18C>T
|
|
|
NM_023036.6(DNAI2):c.345+19C>A
|
|
|
NM_023036.6(DNAI2):c.345+20C>T
|
|
|
NM_023036.6(DNAI2):c.346-10T>C
|
rs758678063
|
|
NM_023036.6(DNAI2):c.346-13G>A
|
|
|
NM_023036.6(DNAI2):c.346-5C>T
|
rs751933779
|
|
NM_023036.6(DNAI2):c.346-8C>T
|
rs1224415599
|
|
NM_023036.6(DNAI2):c.346-9C>G
|
|
|
NM_023036.6(DNAI2):c.346-9C>T
|
rs780216155
|
|
NM_023036.6(DNAI2):c.354G>A (p.Glu118=)
|
|
|
NM_023036.6(DNAI2):c.357C>T (p.His119=)
|
|
|
NM_023036.6(DNAI2):c.369G>A (p.Gln123=)
|
|
|
NM_023036.6(DNAI2):c.36C>T (p.Ser12=)
|
|
|
NM_023036.6(DNAI2):c.39G>A (p.Glu13=)
|
rs533814143
|
|
NM_023036.6(DNAI2):c.405T>C (p.Asn135=)
|
|
|
NM_023036.6(DNAI2):c.411G>A (p.Glu137=)
|
rs1305242771
|
|
NM_023036.6(DNAI2):c.42C>T (p.Phe14=)
|
rs1305282590
|
|
NM_023036.6(DNAI2):c.444A>G (p.Ser148=)
|
rs2143921761
|
|
NM_023036.6(DNAI2):c.444A>T (p.Ser148=)
|
|
|
NM_023036.6(DNAI2):c.447T>C (p.Ala149=)
|
|
|
NM_023036.6(DNAI2):c.459T>C (p.Asn153=)
|
|
|
NM_023036.6(DNAI2):c.467+14C>G
|
|
|
NM_023036.6(DNAI2):c.467+17G>T
|
|
|
NM_023036.6(DNAI2):c.467+7C>A
|
|
|
NM_023036.6(DNAI2):c.467+7C>T
|
rs1421393242
|
|
NM_023036.6(DNAI2):c.467+9A>G
|
rs2143922010
|
|
NM_023036.6(DNAI2):c.468-12T>C
|
|
|
NM_023036.6(DNAI2):c.468-5T>C
|
|
|
NM_023036.6(DNAI2):c.468-7C>T
|
rs756523421
|
|
NM_023036.6(DNAI2):c.474C>A (p.Pro158=)
|
|
|
NM_023036.6(DNAI2):c.474C>T (p.Pro158=)
|
|
|
NM_023036.6(DNAI2):c.477G>A (p.Gln159=)
|
|
|
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.486G>A (p.Lys162=)
|
|
|
NM_023036.6(DNAI2):c.489G>A (p.Arg163=)
|
|
|
NM_023036.6(DNAI2):c.495C>T (p.Ala165=)
|
rs2143940825
|
|
NM_023036.6(DNAI2):c.51G>A (p.Gln17=)
|
rs1029295506
|
|
NM_023036.6(DNAI2):c.522C>T (p.Gly174=)
|
rs557724360
|
|
NM_023036.6(DNAI2):c.525C>T (p.Asn175=)
|
|
|
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.576G>A (p.Val192=)
|
|
|
NM_023036.6(DNAI2):c.585C>T (p.Ser195=)
|
rs2143941526
|
|
NM_023036.6(DNAI2):c.588C>T (p.Ser196=)
|
rs1359353945
|
|
NM_023036.6(DNAI2):c.594A>G (p.Ser198=)
|
|
|
NM_023036.6(DNAI2):c.606C>T (p.Asp202=)
|
|
|
NM_023036.6(DNAI2):c.610+10A>G
|
rs2143941784
|
|
NM_023036.6(DNAI2):c.610+20T>C
|
|
|
NM_023036.6(DNAI2):c.610+9C>G
|
|
|
NM_023036.6(DNAI2):c.611-13T>C
|
rs780969152
|
|
NM_023036.6(DNAI2):c.611-16T>A
|
|
|
NM_023036.6(DNAI2):c.611-17T>A
|
|
|
NM_023036.6(DNAI2):c.611-19A>C
|
|
|
NM_023036.6(DNAI2):c.611-19A>T
|
|
|
NM_023036.6(DNAI2):c.611-4A>G
|
rs752506783
|
|
NM_023036.6(DNAI2):c.611-6T>G
|
|
|
NM_023036.6(DNAI2):c.611-7T>C
|
|
|
NM_023036.6(DNAI2):c.611-7T>G
|
rs2143951498
|
|
NM_023036.6(DNAI2):c.621C>T (p.Asn207=)
|
rs2052059556
|
|
NM_023036.6(DNAI2):c.63G>A (p.Ser21=)
|
|
|
NM_023036.6(DNAI2):c.63G>C (p.Ser21=)
|
rs747888220
|
|
NM_023036.6(DNAI2):c.645A>G (p.Pro215=)
|
|
|
NM_023036.6(DNAI2):c.648G>A (p.Ser216=)
|
|
|
NM_023036.6(DNAI2):c.654A>T (p.Pro218=)
|
|
|
NM_023036.6(DNAI2):c.657C>G (p.Leu219=)
|
rs539461253
|
|
NM_023036.6(DNAI2):c.660G>T (p.Val220=)
|
|
|
NM_023036.6(DNAI2):c.663G>T (p.Thr221=)
|
|
|
NM_023036.6(DNAI2):c.669G>A (p.Glu223=)
|
rs1211030253
|
|
NM_023036.6(DNAI2):c.66C>T (p.Asp22=)
|
|
|
NM_023036.6(DNAI2):c.675C>T (p.Asn225=)
|
rs2052063737
|
|
NM_023036.6(DNAI2):c.685T>G (p.Ser229Ala)
|
rs576683556
|
|
NM_023036.6(DNAI2):c.690C>T (p.His230=)
|
|
|
NM_023036.6(DNAI2):c.697C>T (p.Leu233=)
|
|
|
NM_023036.6(DNAI2):c.69C>T (p.Arg23=)
|
rs2143874354
|
|
NM_023036.6(DNAI2):c.702T>C (p.Gly234=)
|
rs2143952522
|
|
NM_023036.6(DNAI2):c.705C>T (p.Gly235=)
|
|
|
NM_023036.6(DNAI2):c.714T>C (p.Asn238=)
|
|
|
NM_023036.6(DNAI2):c.724+12C>A
|
|
|
NM_023036.6(DNAI2):c.724+18C>T
|
|
|
NM_023036.6(DNAI2):c.724+20T>G
|
|
|
NM_023036.6(DNAI2):c.724+20TTTTTA[2]
|
|
|
NM_023036.6(DNAI2):c.724+20TTTTTA[4]
|
|
|
NM_023036.6(DNAI2):c.725-13_725-11del
|
|
|
NM_023036.6(DNAI2):c.725-5A>T
|
|
|
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
|
|
|
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=)
|
|
|
NM_023036.6(DNAI2):c.75C>T (p.Ala25=)
|
rs749172812
|
|
NM_023036.6(DNAI2):c.780C>T (p.Ser260=)
|
|
|
NM_023036.6(DNAI2):c.78G>A (p.Glu26=)
|
|
|
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=)
|
|
|
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.814C>T (p.Leu272=)
|
rs1183280081
|
|
NM_023036.6(DNAI2):c.816G>A (p.Leu272=)
|
rs62065712
|
|
NM_023036.6(DNAI2):c.819G>A (p.Gln273=)
|
|
|
NM_023036.6(DNAI2):c.831C>T (p.Gly277=)
|
|
|
NM_023036.6(DNAI2):c.837G>A (p.Glu279=)
|
rs772574421
|
|
NM_023036.6(DNAI2):c.840C>T (p.Cys280=)
|
|
|
NM_023036.6(DNAI2):c.861G>A (p.Gly287=)
|
|
|
NM_023036.6(DNAI2):c.864+10A>T
|
|
|
NM_023036.6(DNAI2):c.864+14A>G
|
|
|
NM_023036.6(DNAI2):c.864+16A>C
|
|
|
NM_023036.6(DNAI2):c.864+17C>A
|
|
|
NM_023036.6(DNAI2):c.864+19C>G
|
|
|
NM_023036.6(DNAI2):c.864+19C>T
|
|
|
NM_023036.6(DNAI2):c.864+9C>T
|
|
|
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.865-17G>A
|
|
|
NM_023036.6(DNAI2):c.865-5A>T
|
|
|
NM_023036.6(DNAI2):c.865-6_865-5inv
|
|
|
NM_023036.6(DNAI2):c.865-7C>A
|
|
|
NM_023036.6(DNAI2):c.882C>A (p.Ile294=)
|
|
|
NM_023036.6(DNAI2):c.894C>T (p.Ser298=)
|
|
|
NM_023036.6(DNAI2):c.903T>C (p.Thr301=)
|
rs2144035167
|
|
NM_023036.6(DNAI2):c.90C>T (p.Asp30=)
|
|
|
NM_023036.6(DNAI2):c.921C>T (p.Asp307=)
|
|
|
NM_023036.6(DNAI2):c.924C>A (p.Ile308=)
|
rs747748164
|
|
NM_023036.6(DNAI2):c.939G>A (p.Gln313=)
|
|
|
NM_023036.6(DNAI2):c.940T>C (p.Leu314=)
|
rs749072778
|
|
NM_023036.6(DNAI2):c.951C>T (p.Ala317=)
|
|
|
NM_023036.6(DNAI2):c.957G>A (p.Gly319=)
|
rs2144035485
|
|
NM_023036.6(DNAI2):c.966C>G (p.Ser322=)
|
rs765353102
|
|
NM_023036.6(DNAI2):c.966C>T (p.Ser322=)
|
|
|
NM_023036.6(DNAI2):c.969G>C (p.Leu323=)
|
rs1306977536
|
|
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
|
|
|
NM_023036.6(DNAI2):c.987+9C>G
|
rs2144035707
|
|
NM_023036.6(DNAI2):c.988-10C>T
|
rs2144075152
|
|
NM_023036.6(DNAI2):c.988-16G>A
|
|
|
NM_023036.6(DNAI2):c.9T>C (p.Ile3=)
|
rs2143873517
|
|
NM_031427.4(DNAL1):c.*6015_*6016del
|
rs10594595
|
|
NM_031427.4(DNAL1):c.*6163_*6164insTGCACG
|
rs1555340583
|
|
NM_080860.4(RSPH1):c.109C>A (p.Arg37=)
|
|
|
NM_080860.4(RSPH1):c.111G>A (p.Arg37=)
|
|
|
NM_080860.4(RSPH1):c.169-25_169-17del
|
|
|
NM_080860.4(RSPH1):c.18G>C (p.Ser6=)
|
|
|
NM_080860.4(RSPH1):c.274+11A>G
|
|
|
NM_080860.4(RSPH1):c.274+13C>G
|
|
|
NM_080860.4(RSPH1):c.300C>T (p.His100=)
|
|
|
NM_080860.4(RSPH1):c.306T>C (p.His102=)
|
|
|
NM_080860.4(RSPH1):c.309C>T (p.Gly103=)
|
|
|
NM_080860.4(RSPH1):c.365+10C>T
|
rs962821435
|
|
NM_080860.4(RSPH1):c.366-17C>T
|
|
|
NM_080860.4(RSPH1):c.372G>A (p.Gly124=)
|
|
|
NM_080860.4(RSPH1):c.429C>T (p.Asn143=)
|
|
|
NM_080860.4(RSPH1):c.501+13G>A
|
|
|
NM_080860.4(RSPH1):c.501+17T>C
|
|
|
NM_080860.4(RSPH1):c.502-4G>A
|
|
|
NM_080860.4(RSPH1):c.537G>T (p.Gly179=)
|
|
|
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.573+10G>A
|
|
|
NM_080860.4(RSPH1):c.637C>A (p.Gln213Lys)
|
rs146298259
|
|
NM_080860.4(RSPH1):c.648A>G (p.Glu216=)
|
rs2054078510
|
|
NM_080860.4(RSPH1):c.655C>T (p.Leu219=)
|
|
|
NM_080860.4(RSPH1):c.6G>C (p.Ser2=)
|
|
|
NM_080860.4(RSPH1):c.705C>T (p.Gly235=)
|
|
|
NM_080860.4(RSPH1):c.727+11C>A
|
|
|
NM_080860.4(RSPH1):c.727+11_727+83del
|
|
|
NM_080860.4(RSPH1):c.727+18_727+19insGGGCACCCCCGGGTGTGGGGTGGAGGGGGCAGAGGGTGTA
|
|
|
NM_080860.4(RSPH1):c.727+20T>G
|
|
|
NM_080860.4(RSPH1):c.728-20T>G
|
|
|
NM_080860.4(RSPH1):c.795G>A (p.Arg265=)
|
rs2054043655
|
|
NM_080860.4(RSPH1):c.816C>T (p.Asp272=)
|
|
|
NM_080860.4(RSPH1):c.819C>T (p.Val273=)
|
rs1555875193
|
|
NM_080860.4(RSPH1):c.84C>T (p.Gly28=)
|
|
|
NM_080860.4(RSPH1):c.877+14G>A
|
|
|
NM_080860.4(RSPH1):c.878-4T>G
|
|
|
NM_080860.4(RSPH1):c.912G>A (p.Gln304=)
|
|
|
NM_145038.5(DRC1):c.1008G>A (p.Gln336=)
|
|
|
NM_145038.5(DRC1):c.1028+10C>A
|
rs1663692485
|
|
NM_145038.5(DRC1):c.1028+10C>G
|
rs1663692485
|
|
NM_145038.5(DRC1):c.1028+12T>C
|
|
|
NM_145038.5(DRC1):c.1028+18G>A
|
|
|
NM_145038.5(DRC1):c.1028+19C>T
|
|
|
NM_145038.5(DRC1):c.1029-4C>T
|
|
|
NM_145038.5(DRC1):c.1029-7C>T
|
|
|
NM_145038.5(DRC1):c.1110C>G (p.Thr370=)
|
|
|
NM_145038.5(DRC1):c.1163+10G>A
|
|
|
NM_145038.5(DRC1):c.1163+15T>C
|
|
|
NM_145038.5(DRC1):c.1164-19C>G
|
|
|
NM_145038.5(DRC1):c.1164-9C>T
|
|
|
NM_145038.5(DRC1):c.1207C>T (p.Leu403=)
|
|
|
NM_145038.5(DRC1):c.1221G>A (p.Glu407=)
|
|
|
NM_145038.5(DRC1):c.1263G>A (p.Arg421=)
|
rs778963656
|
|
NM_145038.5(DRC1):c.1281T>C (p.His427=)
|
rs528460521
|
|
NM_145038.5(DRC1):c.1284G>A (p.Leu428=)
|
|
|
NM_145038.5(DRC1):c.1329T>C (p.Val443=)
|
|
|
NM_145038.5(DRC1):c.1350C>T (p.Pro450=)
|
|
|
NM_145038.5(DRC1):c.1392C>T (p.Arg464=)
|
|
|
NM_145038.5(DRC1):c.1396+19T>A
|
|
|
NM_145038.5(DRC1):c.1397-11C>T
|
|
|
NM_145038.5(DRC1):c.1397-16_1397-15inv
|
|
|
NM_145038.5(DRC1):c.1397-20T>G
|
|
|
NM_145038.5(DRC1):c.1452G>A (p.Pro484=)
|
rs1417232935
|
|
NM_145038.5(DRC1):c.1461T>C (p.Ile487=)
|
rs1167700043
|
|
NM_145038.5(DRC1):c.1470A>G (p.Lys490=)
|
|
|
NM_145038.5(DRC1):c.1509+10G>A
|
rs947858109
|
|
NM_145038.5(DRC1):c.1509+11G>A
|
|
|
NM_145038.5(DRC1):c.1509+13G>A
|
|
|
NM_145038.5(DRC1):c.1518C>T (p.Leu506=)
|
|
|
NM_145038.5(DRC1):c.155+12G>C
|
|
|
NM_145038.5(DRC1):c.156-7A>C
|
|
|
NM_145038.5(DRC1):c.1598C>T (p.Ser533Phe)
|
|
|
NM_145038.5(DRC1):c.1599+11C>T
|
|
|
NM_145038.5(DRC1):c.1600-8C>T
|
|
|
NM_145038.5(DRC1):c.1620G>A (p.Glu540=)
|
|
|
NM_145038.5(DRC1):c.1650C>T (p.Phe550=)
|
|
|
NM_145038.5(DRC1):c.1689+11G>A
|
|
|
NM_145038.5(DRC1):c.1689+12T>G
|
|
|
NM_145038.5(DRC1):c.1689+20G>A
|
rs1663981941
|
|
NM_145038.5(DRC1):c.1690-10C>T
|
rs778847128
|
|
NM_145038.5(DRC1):c.1690-17C>G
|
|
|
NM_145038.5(DRC1):c.1690-17C>T
|
|
|
NM_145038.5(DRC1):c.1690-6C>T
|
|
|
NM_145038.5(DRC1):c.1720_1734del (p.Lys574_Glu578del)
|
rs878855222
|
|
NM_145038.5(DRC1):c.174T>C (p.Tyr58=)
|
|
|
NM_145038.5(DRC1):c.1756T>C (p.Leu586=)
|
|
|
NM_145038.5(DRC1):c.1815G>A (p.Gly605=)
|
rs748482443
|
|
NM_145038.5(DRC1):c.1839C>T (p.Thr613=)
|
|
|
NM_145038.5(DRC1):c.1887G>A (p.Leu629=)
|
|
|
NM_145038.5(DRC1):c.1919+7T>C
|
|
|
NM_145038.5(DRC1):c.1920-13T>C
|
|
|
NM_145038.5(DRC1):c.1920-14C>T
|
|
|
NM_145038.5(DRC1):c.1920-15G>A
|
|
|
NM_145038.5(DRC1):c.1920-20A>G
|
|
|
NM_145038.5(DRC1):c.1935G>C (p.Pro645=)
|
rs561986345
|
|
NM_145038.5(DRC1):c.1957C>T (p.Arg653Cys)
|
rs139106371
|
|
NM_145038.5(DRC1):c.1965C>T (p.Asn655=)
|
rs201930229
|
|
NM_145038.5(DRC1):c.1980G>A (p.Glu660=)
|
|
|
NM_145038.5(DRC1):c.2037C>A (p.Ala679=)
|
rs759791684
|
|
NM_145038.5(DRC1):c.2049C>G (p.Ala683=)
|
|
|
NM_145038.5(DRC1):c.2064-10C>T
|
|
|
NM_145038.5(DRC1):c.2064-17G>A
|
|
|
NM_145038.5(DRC1):c.2064-18C>T
|
|
|
NM_145038.5(DRC1):c.2100A>G (p.Glu700=)
|
|
|
NM_145038.5(DRC1):c.2166+10G>T
|
|
|
NM_145038.5(DRC1):c.2166+11G>T
|
|
|
NM_145038.5(DRC1):c.2166+7G>A
|
|
|
NM_145038.5(DRC1):c.2167-13C>G
|
|
|
NM_145038.5(DRC1):c.2167-20T>A
|
|
|
NM_145038.5(DRC1):c.2172C>T (p.Asn724=)
|
|
|
NM_145038.5(DRC1):c.2202G>T (p.Val734=)
|
|
|
NM_145038.5(DRC1):c.243+10G>C
|
|
|
NM_145038.5(DRC1):c.243+9T>C
|
rs1476611473
|
|
NM_145038.5(DRC1):c.244-14dup
|
|
|
NM_145038.5(DRC1):c.244-16A>G
|
|
|
NM_145038.5(DRC1):c.270C>T (p.Gly90=)
|
|
|
NM_145038.5(DRC1):c.300T>C (p.Ala100=)
|
|
|
NM_145038.5(DRC1):c.357-15T>A
|
rs1188964676
|
|
NM_145038.5(DRC1):c.367C>T (p.Leu123=)
|
rs1378377620
|
|
NM_145038.5(DRC1):c.411C>A (p.Ile137=)
|
|
|
NM_145038.5(DRC1):c.471C>T (p.Leu157=)
|
rs1663228984
|
|
NM_145038.5(DRC1):c.495T>A (p.Ala165=)
|
rs7423300
|
|
NM_145038.5(DRC1):c.537G>A (p.Gln179=)
|
rs2147987459
|
|
NM_145038.5(DRC1):c.541-14A>G
|
|
|
NM_145038.5(DRC1):c.603C>T (p.Cys201=)
|
|
|
NM_145038.5(DRC1):c.660G>A (p.Glu220=)
|
|
|
NM_145038.5(DRC1):c.678+17A>G
|
|
|
NM_145038.5(DRC1):c.678+8G>A
|
rs1558443964
|
|
NM_145038.5(DRC1):c.717T>C (p.Ser239=)
|
rs772316882
|
|
NM_145038.5(DRC1):c.765+15C>T
|
|
|
NM_145038.5(DRC1):c.765+17G>A
|
|
|
NM_145038.5(DRC1):c.765+19C>G
|
|
|
NM_145038.5(DRC1):c.766-13C>T
|
|
|
NM_145038.5(DRC1):c.766-7C>T
|
|
|
NM_145038.5(DRC1):c.870G>A (p.Lys290=)
|
rs765263654
|
|
NM_145038.5(DRC1):c.87C>G (p.Ser29=)
|
|
|
NM_145038.5(DRC1):c.889-15T>C
|
|
|
NM_145038.5(DRC1):c.918A>G (p.Lys306=)
|
|
|
NM_145038.5(DRC1):c.98A>G (p.Gln33Arg)
|
|
|
NM_145038.5(DRC1):c.996A>G (p.Val332=)
|
|
|
NM_145038.5(DRC1):c.9G>T (p.Pro3=)
|
rs950686026
|
|
NM_152732.5(RSPH9):c.129G>T (p.Arg43=)
|
|
|
NM_152732.5(RSPH9):c.159C>T (p.Leu53=)
|
|
|
NM_152732.5(RSPH9):c.198C>T (p.Asp66=)
|
|
|
NM_152732.5(RSPH9):c.204C>T (p.Leu68=)
|
|
|
NM_152732.5(RSPH9):c.227+14C>T
|
|
|
NM_152732.5(RSPH9):c.227+15G>T
|
|
|
NM_152732.5(RSPH9):c.227+20G>A
|
|
|
NM_152732.5(RSPH9):c.27T>C (p.Ser9=)
|
|
|
NM_152732.5(RSPH9):c.282G>A (p.Ala94=)
|
|
|
NM_152732.5(RSPH9):c.393+11A>C
|
|
|
NM_152732.5(RSPH9):c.405G>A (p.Lys135=)
|
|
|
NM_152732.5(RSPH9):c.459C>A (p.Ile153=)
|
|
|
NM_152732.5(RSPH9):c.471C>T (p.Gly157=)
|
|
|
NM_152732.5(RSPH9):c.492T>C (p.Phe164=)
|
|
|
NM_152732.5(RSPH9):c.498C>T (p.Pro166=)
|
|
|
NM_152732.5(RSPH9):c.524-17C>T
|
|
|
NM_152732.5(RSPH9):c.657T>C (p.His219=)
|
rs748721325
|
|
NM_152732.5(RSPH9):c.66G>A (p.Pro22=)
|
|
|
NM_152732.5(RSPH9):c.671-4T>G
|
|
|
NM_152732.5(RSPH9):c.693G>A (p.Glu231=)
|
|
|
NM_152732.5(RSPH9):c.717G>T (p.Leu239=)
|
|
|
NM_152732.5(RSPH9):c.720C>T (p.Arg240=)
|
|
|
NM_152732.5(RSPH9):c.72T>G (p.Arg24=)
|
|
|
NM_152732.5(RSPH9):c.735G>A (p.Pro245=)
|
|
|
NM_152732.5(RSPH9):c.745_746delinsAC (p.Phe249Thr)
|
|
|
NM_152732.5(RSPH9):c.753T>C (p.His251=)
|
|
|
NM_152732.5(RSPH9):c.780C>T (p.Tyr260=)
|
|
|
NM_152732.5(RSPH9):c.786C>T (p.Tyr262=)
|
|
|
NM_152732.5(RSPH9):c.795T>C (p.Thr265=)
|
|
|
NM_152732.5(RSPH9):c.813C>T (p.Asp271=)
|
rs763528022
|
|
NM_152732.5(RSPH9):c.9C>G (p.Ala3=)
|
|
|
NM_178452.6(DNAAF1):c.1030+10C>T
|
rs775992194
|
|
NM_178452.6(DNAAF1):c.1030+7G>A
|
|
|
NM_178452.6(DNAAF1):c.1030+8C>T
|
rs2151253101
|
|
NM_178452.6(DNAAF1):c.1031-11T>G
|
rs200286840
|
|
NM_178452.6(DNAAF1):c.1032G>A (p.Gly344=)
|
|
|
NM_178452.6(DNAAF1):c.105C>T (p.Gly35=)
|
|
|
NM_178452.6(DNAAF1):c.107G>C (p.Arg36Pro)
|
|
|
NM_178452.6(DNAAF1):c.1098C>G (p.Pro366=)
|
|
|
NM_178452.6(DNAAF1):c.1101G>C (p.Gly367=)
|
|
|
NM_178452.6(DNAAF1):c.1131A>G (p.Leu377=)
|
|
|
NM_178452.6(DNAAF1):c.1161C>T (p.Asp387=)
|
|
|
NM_178452.6(DNAAF1):c.1167C>G (p.Leu389=)
|
|
|
NM_178452.6(DNAAF1):c.1182A>G (p.Pro394=)
|
|
|
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.124+12C>T
|
|
|
NM_178452.6(DNAAF1):c.124+16C>T
|
|
|
NM_178452.6(DNAAF1):c.1263G>C (p.Leu421=)
|
|
|
NM_178452.6(DNAAF1):c.1284G>A (p.Glu428=)
|
|
|
NM_178452.6(DNAAF1):c.1320G>C (p.Gly440=)
|
rs1555525241
|
|
NM_178452.6(DNAAF1):c.1356T>A (p.Pro452=)
|
|
|
NM_178452.6(DNAAF1):c.1377T>C (p.Asp459=)
|
rs761136963
|
|
NM_178452.6(DNAAF1):c.1455T>C (p.Asp485=)
|
rs1205285192
|
|
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=)
|
|
|
NM_178452.6(DNAAF1):c.1529-11T>C
|
|
|
NM_178452.6(DNAAF1):c.1533G>A (p.Pro511=)
|
|
|
NM_178452.6(DNAAF1):c.1539C>T (p.Pro513=)
|
|
|
NM_178452.6(DNAAF1):c.153G>C (p.Val51=)
|
|
|
NM_178452.6(DNAAF1):c.1557G>A (p.Glu519=)
|
|
|
NM_178452.6(DNAAF1):c.1578T>C (p.Leu526=)
|
|
|
NM_178452.6(DNAAF1):c.1611T>C (p.Ile537=)
|
|
|
NM_178452.6(DNAAF1):c.1614A>G (p.Arg538=)
|
|
|
NM_178452.6(DNAAF1):c.1626G>A (p.Lys542=)
|
|
|
NM_178452.6(DNAAF1):c.1644+17dup
|
|
|
NM_178452.6(DNAAF1):c.1645-19G>C
|
|
|
NM_178452.6(DNAAF1):c.1645-20C>T
|
|
|
NM_178452.6(DNAAF1):c.1645-9C>T
|
|
|
NM_178452.6(DNAAF1):c.1665T>C (p.Asp555=)
|
rs576928019
|
|
NM_178452.6(DNAAF1):c.1698+8T>A
|
rs1186759315
|
|
NM_178452.6(DNAAF1):c.1698+9C>T
|
|
|
NM_178452.6(DNAAF1):c.1719T>A (p.Ile573=)
|
|
|
NM_178452.6(DNAAF1):c.1740T>C (p.Ser580=)
|
|
|
NM_178452.6(DNAAF1):c.1755T>A (p.Pro585=)
|
|
|
NM_178452.6(DNAAF1):c.1770G>A (p.Thr590=)
|
|
|
NM_178452.6(DNAAF1):c.1770G>C (p.Thr590=)
|
rs747916153
|
|
NM_178452.6(DNAAF1):c.1780G>A (p.Val594Met)
|
|
|
NM_178452.6(DNAAF1):c.1806T>C (p.Thr602=)
|
|
|
NM_178452.6(DNAAF1):c.1807C>T (p.Leu603=)
|
|
|
NM_178452.6(DNAAF1):c.1897T>C (p.Leu633=)
|
|
|
NM_178452.6(DNAAF1):c.1992C>T (p.Thr664=)
|
|
|
NM_178452.6(DNAAF1):c.2019T>C (p.Thr673=)
|
|
|
NM_178452.6(DNAAF1):c.2065+20A>G
|
rs1392623784
|
|
NM_178452.6(DNAAF1):c.2065+9G>T
|
|
|
NM_178452.6(DNAAF1):c.2154A>C (p.Ala718=)
|
|
|
NM_178452.6(DNAAF1):c.2178G>A (p.Ter726=)
|
|
|
NM_178452.6(DNAAF1):c.222C>T (p.Phe74=)
|
|
|
NM_178452.6(DNAAF1):c.261-20A>G
|
|
|
NM_178452.6(DNAAF1):c.279G>A (p.Leu93=)
|
rs1466796208
|
|
NM_178452.6(DNAAF1):c.321A>G (p.Ala107=)
|
|
|
NM_178452.6(DNAAF1):c.333G>A (p.Thr111=)
|
|
|
NM_178452.6(DNAAF1):c.333G>C (p.Thr111=)
|
|
|
NM_178452.6(DNAAF1):c.33T>C (p.Gly11=)
|
|
|
NM_178452.6(DNAAF1):c.352+15G>C
|
|
|
NM_178452.6(DNAAF1):c.352+9C>A
|
|
|
NM_178452.6(DNAAF1):c.353-19C>T
|
|
|
NM_178452.6(DNAAF1):c.353-5G>A
|
|
|
NM_178452.6(DNAAF1):c.39A>C (p.Ala13=)
|
|
|
NM_178452.6(DNAAF1):c.438C>T (p.Asn146=)
|
rs2087328101
|
|
NM_178452.6(DNAAF1):c.491G>A (p.Arg164His)
|
|
|
NM_178452.6(DNAAF1):c.522A>G (p.Lys174=)
|
|
|
NM_178452.6(DNAAF1):c.561C>G (p.Thr187=)
|
|
|
NM_178452.6(DNAAF1):c.574+11C>T
|
|
|
NM_178452.6(DNAAF1):c.575-18G>T
|
|
|
NM_178452.6(DNAAF1):c.575-20C>T
|
|
|
NM_178452.6(DNAAF1):c.597A>G (p.Thr199=)
|
rs1597422367
|
|
NM_178452.6(DNAAF1):c.663G>A (p.Arg221=)
|
|
|
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.690C>T (p.Asn230=)
|
|
|
NM_178452.6(DNAAF1):c.714G>A (p.Leu238=)
|
rs928649220
|
|
NM_178452.6(DNAAF1):c.741+4AAAAAC[4]
|
|
|
NM_178452.6(DNAAF1):c.742-12G>A
|
|
|
NM_178452.6(DNAAF1):c.742-7C>G
|
rs2087610689
|
|
NM_178452.6(DNAAF1):c.765C>T (p.Asn255=)
|
|
|
NM_178452.6(DNAAF1):c.863+8G>A
|
|
|
NM_178452.6(DNAAF1):c.873G>A (p.Ala291=)
|
|
|
NM_178452.6(DNAAF1):c.900A>C (p.Ala300=)
|
|
|
NM_178452.6(DNAAF1):c.939G>A (p.Glu313=)
|
|
|
NM_178452.6(DNAAF1):c.96G>C (p.Gly32=)
|
|
|
NM_181426.2(CCDC39):c.1020T>C (p.His340=)
|
|
|
NM_181426.2(CCDC39):c.1034+12A>G
|
|
|
NM_181426.2(CCDC39):c.1034+13C>G
|
|
|
NM_181426.2(CCDC39):c.1035-13A>G
|
|
|
NM_181426.2(CCDC39):c.1035-15A>G
|
|
|
NM_181426.2(CCDC39):c.1035-18G>A
|
|
|
NM_181426.2(CCDC39):c.1035-18G>T
|
|
|
NM_181426.2(CCDC39):c.1062G>A (p.Glu354=)
|
|
|
NM_181426.2(CCDC39):c.1077A>G (p.Lys359=)
|
|
|
NM_181426.2(CCDC39):c.1086G>A (p.Glu362=)
|
|
|
NM_181426.2(CCDC39):c.1129T>C (p.Leu377=)
|
|
|
NM_181426.2(CCDC39):c.1143A>G (p.Leu381=)
|
|
|
NM_181426.2(CCDC39):c.1167+10A>G
|
|
|
NM_181426.2(CCDC39):c.1167+1258_1167+1270del
|
|
|
NM_181426.2(CCDC39):c.1167+16A>G
|
|
|
NM_181426.2(CCDC39):c.1168-10T>C
|
|
|
NM_181426.2(CCDC39):c.1168-17A>G
|
|
|
NM_181426.2(CCDC39):c.1168-18T>C
|
|
|
NM_181426.2(CCDC39):c.1168-6_1168-4del
|
|
|
NM_181426.2(CCDC39):c.1179T>G (p.Val393=)
|
|
|
NM_181426.2(CCDC39):c.1183C>T (p.Leu395=)
|
|
|
NM_181426.2(CCDC39):c.1233T>A (p.Thr411=)
|
|
|
NM_181426.2(CCDC39):c.1236G>A (p.Glu412=)
|
|
|
NM_181426.2(CCDC39):c.1293A>G (p.Lys431=)
|
|
|
NM_181426.2(CCDC39):c.132G>A (p.Glu44=)
|
|
|
NM_181426.2(CCDC39):c.135A>G (p.Leu45=)
|
|
|
NM_181426.2(CCDC39):c.1362+16A>G
|
|
|
NM_181426.2(CCDC39):c.1362+19A>C
|
|
|
NM_181426.2(CCDC39):c.1362+20A>T
|
rs1343116989
|
|
NM_181426.2(CCDC39):c.1363-12A>T
|
|
|
NM_181426.2(CCDC39):c.1363-13T>A
|
|
|
NM_181426.2(CCDC39):c.1363-13del
|
rs374074877
|
|
NM_181426.2(CCDC39):c.1363-17_1363-16insC
|
|
|
NM_181426.2(CCDC39):c.1363-23dup
|
rs374074877
|
|
NM_181426.2(CCDC39):c.1363-7_1363-6del
|
rs764514126
|
|
NM_181426.2(CCDC39):c.1363-8T>G
|
|
|
NM_181426.2(CCDC39):c.1363-9C>A
|
|
|
NM_181426.2(CCDC39):c.1404A>G (p.Leu468=)
|
|
|
NM_181426.2(CCDC39):c.1410A>G (p.Gly470=)
|
|
|
NM_181426.2(CCDC39):c.141G>A (p.Glu47=)
|
|
|
NM_181426.2(CCDC39):c.1437G>A (p.Ala479=)
|
|
|
NM_181426.2(CCDC39):c.1437G>T (p.Ala479=)
|
rs1429796397
|
|
NM_181426.2(CCDC39):c.144T>C (p.Tyr48=)
|
|
|
NM_181426.2(CCDC39):c.1470T>G (p.Ser490=)
|
|
|
NM_181426.2(CCDC39):c.1485A>G (p.Lys495=)
|
|
|
NM_181426.2(CCDC39):c.1491A>C (p.Thr497=)
|
|
|
NM_181426.2(CCDC39):c.1491A>G (p.Thr497=)
|
|
|
NM_181426.2(CCDC39):c.1506A>G (p.Glu502=)
|
|
|
NM_181426.2(CCDC39):c.1527+11C>T
|
|
|
NM_181426.2(CCDC39):c.1527+18C>T
|
|
|
NM_181426.2(CCDC39):c.1528-10T>C
|
|
|
NM_181426.2(CCDC39):c.1528-11_1528-10del
|
rs765966793
|
|
NM_181426.2(CCDC39):c.1528-12T>A
|
|
|
NM_181426.2(CCDC39):c.1528-19C>A
|
|
|
NM_181426.2(CCDC39):c.1557T>C (p.His519=)
|
|
|
NM_181426.2(CCDC39):c.1575A>G (p.Glu525=)
|
|
|
NM_181426.2(CCDC39):c.1593C>A (p.Thr531=)
|
|
|
NM_181426.2(CCDC39):c.1602T>C (p.Asn534=)
|
|
|
NM_181426.2(CCDC39):c.1650C>T (p.Ala550=)
|
|
|
NM_181426.2(CCDC39):c.1665+20A>C
|
|
|
NM_181426.2(CCDC39):c.1665+7T>C
|
|
|
NM_181426.2(CCDC39):c.1665+9A>G
|
|
|
NM_181426.2(CCDC39):c.1666-10A>G
|
|
|
NM_181426.2(CCDC39):c.1666-11T>A
|
|
|
NM_181426.2(CCDC39):c.1666-8G>A
|
|
|
NM_181426.2(CCDC39):c.1666-8G>T
|
|
|
NM_181426.2(CCDC39):c.1666-9C>T
|
|
|
NM_181426.2(CCDC39):c.1689T>A (p.Leu563=)
|
|
|
NM_181426.2(CCDC39):c.1698T>C (p.Leu566=)
|
|
|
NM_181426.2(CCDC39):c.1701A>G (p.Glu567=)
|
|
|
NM_181426.2(CCDC39):c.1704T>G (p.Val568=)
|
|
|
NM_181426.2(CCDC39):c.1716A>G (p.Arg572=)
|
|
|
NM_181426.2(CCDC39):c.1731T>C (p.Ser577=)
|
|
|
NM_181426.2(CCDC39):c.1737A>G (p.Ala579=)
|
|
|
NM_181426.2(CCDC39):c.1767A>G (p.Lys589=)
|
|
|
NM_181426.2(CCDC39):c.1773A>G (p.Gln591=)
|
|
|
NM_181426.2(CCDC39):c.1795C>A (p.Arg599=)
|
rs201780665
|
|
NM_181426.2(CCDC39):c.1797A>C (p.Arg599=)
|
|
|
NM_181426.2(CCDC39):c.1869C>T (p.Asn623=)
|
|
|
NM_181426.2(CCDC39):c.1875-10T>A
|
|
|
NM_181426.2(CCDC39):c.1875-14C>T
|
|
|
NM_181426.2(CCDC39):c.1875-14_1875-13del
|
|
|
NM_181426.2(CCDC39):c.1875-17T>A
|
|
|
NM_181426.2(CCDC39):c.1875-20del
|
|
|
NM_181426.2(CCDC39):c.1875-9T>C
|
|
|
NM_181426.2(CCDC39):c.1878T>G (p.Thr626=)
|
|
|
NM_181426.2(CCDC39):c.1890G>A (p.Glu630=)
|
|
|
NM_181426.2(CCDC39):c.18G>C (p.Leu6=)
|
|
|
NM_181426.2(CCDC39):c.1908G>A (p.Glu636=)
|
|
|
NM_181426.2(CCDC39):c.1920T>C (p.Asn640=)
|
|
|
NM_181426.2(CCDC39):c.1935G>A (p.Leu645=)
|
|
|
NM_181426.2(CCDC39):c.1953T>C (p.Pro651=)
|
|
|
NM_181426.2(CCDC39):c.1965A>G (p.Glu655=)
|
|
|
NM_181426.2(CCDC39):c.1968G>A (p.Glu656=)
|
|
|
NM_181426.2(CCDC39):c.1998+10A>G
|
|
|
NM_181426.2(CCDC39):c.1998+13_1998+16del
|
|
|
NM_181426.2(CCDC39):c.1998+20A>G
|
|
|
NM_181426.2(CCDC39):c.1999-12T>C
|
|
|
NM_181426.2(CCDC39):c.1999-8C>T
|
|
|
NM_181426.2(CCDC39):c.2019A>G (p.Glu673=)
|
|
|
NM_181426.2(CCDC39):c.2061A>G (p.Lys687=)
|
|
|
NM_181426.2(CCDC39):c.207A>G (p.Thr69=)
|
|
|
NM_181426.2(CCDC39):c.2082T>G (p.Ala694=)
|
|
|
NM_181426.2(CCDC39):c.210+12G>T
|
|
|
NM_181426.2(CCDC39):c.210+17T>C
|
|
|
NM_181426.2(CCDC39):c.210+20T>G
|
|
|
NM_181426.2(CCDC39):c.210+9A>C
|
|
|
NM_181426.2(CCDC39):c.2103G>T (p.Val701=)
|
|
|
NM_181426.2(CCDC39):c.211-13del
|
|
|
NM_181426.2(CCDC39):c.211-14G>T
|
|
|
NM_181426.2(CCDC39):c.211-16G>A
|
|
|
NM_181426.2(CCDC39):c.211-6C>A
|
|
|
NM_181426.2(CCDC39):c.2112C>T (p.Ser704=)
|
|
|
NM_181426.2(CCDC39):c.2127T>C (p.Tyr709=)
|
|
|
NM_181426.2(CCDC39):c.2136T>C (p.Ser712=)
|
|
|
NM_181426.2(CCDC39):c.2158+13T>C
|
|
|
NM_181426.2(CCDC39):c.2158+19T>G
|
|
|
NM_181426.2(CCDC39):c.2158+9G>A
|
rs2108406532
|
|
NM_181426.2(CCDC39):c.2159-13T>C
|
|
|
NM_181426.2(CCDC39):c.2159-14G>A
|
|
|
NM_181426.2(CCDC39):c.2159-14G>T
|
|
|
NM_181426.2(CCDC39):c.2159-15T>G
|
|
|
NM_181426.2(CCDC39):c.2159-4T>G
|
|
|
NM_181426.2(CCDC39):c.2159-9A>G
|
|
|
NM_181426.2(CCDC39):c.2172G>A (p.Glu724=)
|
|
|
NM_181426.2(CCDC39):c.2184A>G (p.Gln728=)
|
|
|
NM_181426.2(CCDC39):c.2205T>C (p.Ala735=)
|
|
|
NM_181426.2(CCDC39):c.2265+11C>T
|
|
|
NM_181426.2(CCDC39):c.2265+15C>A
|
|
|
NM_181426.2(CCDC39):c.2265+16A>G
|
|
|
NM_181426.2(CCDC39):c.2266-13A>G
|
|
|
NM_181426.2(CCDC39):c.2266-16A>G
|
|
|
NM_181426.2(CCDC39):c.2286T>C (p.Asp762=)
|
|
|
NM_181426.2(CCDC39):c.2295A>G (p.Glu765=)
|
|
|
NM_181426.2(CCDC39):c.231G>A (p.Glu77=)
|
|
|
NM_181426.2(CCDC39):c.2323T>C (p.Leu775=)
|
|
|
NM_181426.2(CCDC39):c.2325A>G (p.Leu775=)
|
|
|
NM_181426.2(CCDC39):c.2343T>C (p.Tyr781=)
|
|
|
NM_181426.2(CCDC39):c.234T>G (p.Arg78=)
|
|
|
NM_181426.2(CCDC39):c.2353C>T (p.Leu785=)
|
|
|
NM_181426.2(CCDC39):c.2376G>A (p.Gln792=)
|
|
|
NM_181426.2(CCDC39):c.2400C>G (p.Thr800=)
|
rs2108404469
|
|
NM_181426.2(CCDC39):c.2403A>G (p.Lys801=)
|
|
|
NM_181426.2(CCDC39):c.2406+11C>A
|
|
|
NM_181426.2(CCDC39):c.2406+7A>G
|
|
|
NM_181426.2(CCDC39):c.2406+9A>C
|
|
|
NM_181426.2(CCDC39):c.2406+9_2406+10del
|
|
|
NM_181426.2(CCDC39):c.2407-20T>A
|
|
|
NM_181426.2(CCDC39):c.2407-20T>C
|
|
|
NM_181426.2(CCDC39):c.2407-6C>T
|
|
|
NM_181426.2(CCDC39):c.2407-7C>T
|
|
|
NM_181426.2(CCDC39):c.2407-8A>T
|
rs769021943
|
|
NM_181426.2(CCDC39):c.2407-9T>C
|
rs878855282
|
|
NM_181426.2(CCDC39):c.2418C>T (p.Leu806=)
|
|
|
NM_181426.2(CCDC39):c.2448A>G (p.Thr816=)
|
|
|
NM_181426.2(CCDC39):c.2454T>C (p.Asp818=)
|
|
|
NM_181426.2(CCDC39):c.2460A>C (p.Thr820=)
|
|
|
NM_181426.2(CCDC39):c.2469A>G (p.Glu823=)
|
|
|
NM_181426.2(CCDC39):c.246T>C (p.Ser82=)
|
|
|
NM_181426.2(CCDC39):c.24G>A (p.Glu8=)
|
|
|
NM_181426.2(CCDC39):c.2517T>C (p.Asp839=)
|
|
|
NM_181426.2(CCDC39):c.2526A>G (p.Leu842=)
|
rs1717252361
|
|
NM_181426.2(CCDC39):c.2532T>C (p.Asp844=)
|
|
|
NM_181426.2(CCDC39):c.2550T>G (p.Thr850=)
|
|
|
NM_181426.2(CCDC39):c.2553G>A (p.Glu851=)
|
|
|
NM_181426.2(CCDC39):c.2574A>G (p.Thr858=)
|
|
|
NM_181426.2(CCDC39):c.2586+11A>G
|
|
|
NM_181426.2(CCDC39):c.2586+12C>A
|
|
|
NM_181426.2(CCDC39):c.2586+13C>A
|
|
|
NM_181426.2(CCDC39):c.2586+15_2586+17del
|
|
|
NM_181426.2(CCDC39):c.2586+20T>C
|
|
|
NM_181426.2(CCDC39):c.2586+7C>A
|
|
|
NM_181426.2(CCDC39):c.2587-12A>C
|
|
|
NM_181426.2(CCDC39):c.2587-17A>G
|
|
|
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.2604T>C (p.Pro868=)
|
|
|
NM_181426.2(CCDC39):c.2613C>T (p.Ser871=)
|
|
|
NM_181426.2(CCDC39):c.2625T>C (p.Ser875=)
|
|
|
NM_181426.2(CCDC39):c.2646T>G (p.Pro882=)
|
|
|
NM_181426.2(CCDC39):c.2649A>C (p.Ser883=)
|
|
|
NM_181426.2(CCDC39):c.264C>T (p.Ala88=)
|
|
|
NM_181426.2(CCDC39):c.2664A>G (p.Ser888=)
|
|
|
NM_181426.2(CCDC39):c.2669+10G>C
|
|
|
NM_181426.2(CCDC39):c.2669+11G>A
|
|
|
NM_181426.2(CCDC39):c.2669+11G>C
|
|
|
NM_181426.2(CCDC39):c.2669+12del
|
|
|
NM_181426.2(CCDC39):c.2669+19A>G
|
|
|
NM_181426.2(CCDC39):c.2669+20A>G
|
|
|
NM_181426.2(CCDC39):c.2669+7G>A
|
|
|
NM_181426.2(CCDC39):c.2670-13G>T
|
|
|
NM_181426.2(CCDC39):c.2670-17T>G
|
|
|
NM_181426.2(CCDC39):c.2697T>C (p.Thr899=)
|
|
|
NM_181426.2(CCDC39):c.270T>G (p.Ala90=)
|
|
|
NM_181426.2(CCDC39):c.2715A>G (p.Lys905=)
|
rs886058198
|
|
NM_181426.2(CCDC39):c.2749C>T (p.Leu917=)
|
|
|
NM_181426.2(CCDC39):c.2784T>C (p.Ser928=)
|
|
|
NM_181426.2(CCDC39):c.2790C>T (p.Ser930=)
|
|
|
NM_181426.2(CCDC39):c.2799T>C (p.Asn933=)
|
|
|
NM_181426.2(CCDC39):c.2814G>A (p.Lys938=)
|
|
|
NM_181426.2(CCDC39):c.2817C>T (p.Ser939=)
|
|
|
NM_181426.2(CCDC39):c.285A>G (p.Gly95=)
|
|
|
NM_181426.2(CCDC39):c.294A>G (p.Lys98=)
|
|
|
NM_181426.2(CCDC39):c.297T>C (p.Asp99=)
|
|
|
NM_181426.2(CCDC39):c.307C>A (p.Arg103=)
|
|
|
NM_181426.2(CCDC39):c.327T>C (p.Ala109=)
|
|
|
NM_181426.2(CCDC39):c.357+11A>G
|
|
|
NM_181426.2(CCDC39):c.357+14T>C
|
|
|
NM_181426.2(CCDC39):c.358-14T>C
|
|
|
NM_181426.2(CCDC39):c.358-18T>C
|
|
|
NM_181426.2(CCDC39):c.358-19C>G
|
|
|
NM_181426.2(CCDC39):c.360T>C (p.Asn120=)
|
|
|
NM_181426.2(CCDC39):c.36G>A (p.Glu12=)
|
|
|
NM_181426.2(CCDC39):c.420G>A (p.Gln140=)
|
|
|
NM_181426.2(CCDC39):c.426A>G (p.Ala142=)
|
|
|
NM_181426.2(CCDC39):c.432G>A (p.Glu144=)
|
|
|
NM_181426.2(CCDC39):c.435C>T (p.Ala145=)
|
|
|
NM_181426.2(CCDC39):c.450A>G (p.Ser150=)
|
|
|
NM_181426.2(CCDC39):c.462T>C (p.Asp154=)
|
|
|
NM_181426.2(CCDC39):c.516+11A>G
|
|
|
NM_181426.2(CCDC39):c.516+12_516+14del
|
|
|
NM_181426.2(CCDC39):c.516+14A>C
|
rs377363801
|
|
NM_181426.2(CCDC39):c.516+16T>A
|
|
|
NM_181426.2(CCDC39):c.516+18G>A
|
|
|
NM_181426.2(CCDC39):c.516+18G>T
|
|
|
NM_181426.2(CCDC39):c.516+20A>T
|
|
|
NM_181426.2(CCDC39):c.516+9T>C
|
rs2108429420
|
|
NM_181426.2(CCDC39):c.517-13A>G
|
|
|
NM_181426.2(CCDC39):c.517-14T>C
|
|
|
NM_181426.2(CCDC39):c.517-15A>G
|
|
|
NM_181426.2(CCDC39):c.517-17A>G
|
|
|
NM_181426.2(CCDC39):c.517-18T>C
|
|
|
NM_181426.2(CCDC39):c.517-7A>T
|
|
|
NM_181426.2(CCDC39):c.541C>T (p.Leu181=)
|
|
|
NM_181426.2(CCDC39):c.552A>G (p.Glu184=)
|
|
|
NM_181426.2(CCDC39):c.570G>A (p.Lys190=)
|
|
|
NM_181426.2(CCDC39):c.588T>G (p.Leu196=)
|
|
|
NM_181426.2(CCDC39):c.597T>C (p.Thr199=)
|
|
|
NM_181426.2(CCDC39):c.606A>T (p.Ala202=)
|
|
|
NM_181426.2(CCDC39):c.610-16G>T
|
|
|
NM_181426.2(CCDC39):c.610-20C>T
|
|
|
NM_181426.2(CCDC39):c.610-7T>C
|
rs1576949405
|
|
NM_181426.2(CCDC39):c.610-8_610-5del
|
|
|
NM_181426.2(CCDC39):c.610-9G>A
|
|
|
NM_181426.2(CCDC39):c.610-9G>C
|
|
|
NM_181426.2(CCDC39):c.63C>T (p.Asn21=)
|
|
|
NM_181426.2(CCDC39):c.654T>C (p.Asn218=)
|
rs886058199
|
|
NM_181426.2(CCDC39):c.666A>G (p.Glu222=)
|
|
|
NM_181426.2(CCDC39):c.669C>A (p.Leu223=)
|
|
|
NM_181426.2(CCDC39):c.714T>C (p.Asp238=)
|
|
|
NM_181426.2(CCDC39):c.723A>T (p.Ile241=)
|
|
|
NM_181426.2(CCDC39):c.72C>T (p.Asn24=)
|
|
|
NM_181426.2(CCDC39):c.730T>C (p.Cys244Arg)
|
|
|
NM_181426.2(CCDC39):c.738+11T>C
|
|
|
NM_181426.2(CCDC39):c.738+7T>C
|
|
|
NM_181426.2(CCDC39):c.739-13G>A
|
|
|
NM_181426.2(CCDC39):c.739-17_739-16del
|
|
|
NM_181426.2(CCDC39):c.739-19A>G
|
|
|
NM_181426.2(CCDC39):c.765G>A (p.Thr255=)
|
|
|
NM_181426.2(CCDC39):c.765G>T (p.Thr255=)
|
|
|
NM_181426.2(CCDC39):c.781T>C (p.Leu261=)
|
|
|
NM_181426.2(CCDC39):c.79C>T (p.Leu27=)
|
|
|
NM_181426.2(CCDC39):c.801G>A (p.Lys267=)
|
|
|
NM_181426.2(CCDC39):c.813T>C (p.Ser271=)
|
|
|
NM_181426.2(CCDC39):c.816G>A (p.Glu272=)
|
|
|
NM_181426.2(CCDC39):c.81G>A (p.Leu27=)
|
|
|
NM_181426.2(CCDC39):c.822G>A (p.Gly274=)
|
|
|
NM_181426.2(CCDC39):c.852T>C (p.Ser284=)
|
|
|
NM_181426.2(CCDC39):c.861T>C (p.Asp287=)
|
|
|
NM_181426.2(CCDC39):c.873A>G (p.Leu291=)
|
|
|
NM_181426.2(CCDC39):c.888A>G (p.Ala296=)
|
|
|
NM_181426.2(CCDC39):c.90+12T>A
|
|
|
NM_181426.2(CCDC39):c.90+15A>G
|
|
|
NM_181426.2(CCDC39):c.90+16G>T
|
|
|
NM_181426.2(CCDC39):c.90+17C>G
|
|
|
NM_181426.2(CCDC39):c.90+7T>A
|
|
|
NM_181426.2(CCDC39):c.90+7T>G
|
|
|
NM_181426.2(CCDC39):c.91-17G>A
|
|
|
NM_181426.2(CCDC39):c.91-20A>G
|
|
|
NM_181426.2(CCDC39):c.91-4A>G
|
|
|
NM_181426.2(CCDC39):c.918G>A (p.Gln306=)
|
|
|
NM_181426.2(CCDC39):c.930+12C>A
|
|
|
NM_181426.2(CCDC39):c.930+14A>C
|
|
|
NM_181426.2(CCDC39):c.930+17_930+18del
|
rs765920330
|
|
NM_181426.2(CCDC39):c.930+9A>G
|
rs188183242
|
|
NM_181426.2(CCDC39):c.930+9A>T
|
|
|
NM_181426.2(CCDC39):c.931-10TAA[3]
|
|
|
NM_181426.2(CCDC39):c.931-16G>A
|
|
|
NM_181426.2(CCDC39):c.931-19T>C
|
|
|
NM_181426.2(CCDC39):c.931-20G>C
|
|
|
NM_181426.2(CCDC39):c.931-20G>T
|
|
|
NM_181426.2(CCDC39):c.931-9A>G
|
|
|
NM_181426.2(CCDC39):c.954G>A (p.Val318=)
|
|
|
NM_181426.2(CCDC39):c.984G>A (p.Leu328=)
|
|
|
NM_213607.3(CCDC103):c.129C>T (p.Ser43=)
|
|
|
NM_213607.3(CCDC103):c.143+14C>T
|
|
|
NM_213607.3(CCDC103):c.143+8C>T
|
|
|
NM_213607.3(CCDC103):c.144-12C>T
|
|
|
NM_213607.3(CCDC103):c.144-15G>A
|
|
|
NM_213607.3(CCDC103):c.183G>C (p.Arg61=)
|
|
|
NM_213607.3(CCDC103):c.241A>C (p.Arg81=)
|
|
|
NM_213607.3(CCDC103):c.246C>A (p.Thr82=)
|
|
|
NM_213607.3(CCDC103):c.264T>C (p.Thr88=)
|
|
|
NM_213607.3(CCDC103):c.264T>G (p.Thr88=)
|
|
|
NM_213607.3(CCDC103):c.273C>T (p.Ser91=)
|
|
|
NM_213607.3(CCDC103):c.276+10G>A
|
|
|
NM_213607.3(CCDC103):c.276+12C>T
|
|
|
NM_213607.3(CCDC103):c.276+18C>T
|
|
|
NM_213607.3(CCDC103):c.276+19C>T
|
|
|
NM_213607.3(CCDC103):c.277-12T>C
|
|
|
NM_213607.3(CCDC103):c.277-4C>T
|
|
|
NM_213607.3(CCDC103):c.277-8T>C
|
|
|
NM_213607.3(CCDC103):c.285C>A (p.Ala95=)
|
|
|
NM_213607.3(CCDC103):c.288C>A (p.Pro96=)
|
|
|
NM_213607.3(CCDC103):c.288C>T (p.Pro96=)
|
|
|
NM_213607.3(CCDC103):c.297C>G (p.Pro99=)
|
|
|
NM_213607.3(CCDC103):c.297C>T (p.Pro99=)
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rs112994687
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NM_213607.3(CCDC103):c.306T>G (p.Ser102=)
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NM_213607.3(CCDC103):c.321T>C (p.Arg107=)
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NM_213607.3(CCDC103):c.336C>T (p.His112=)
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NM_213607.3(CCDC103):c.363G>A (p.Gln121=)
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NM_213607.3(CCDC103):c.367C>T (p.Leu123=)
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NM_213607.3(CCDC103):c.402C>T (p.Leu134=)
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NM_213607.3(CCDC103):c.462C>T (p.His154=)
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NM_213607.3(CCDC103):c.471G>A (p.Pro157=)
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NM_213607.3(CCDC103):c.48G>A (p.Leu16=)
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NM_213607.3(CCDC103):c.495G>A (p.Gly165=)
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NM_213607.3(CCDC103):c.519T>C (p.Thr173=)
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NM_213607.3(CCDC103):c.547C>T (p.Leu183=)
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NM_213607.3(CCDC103):c.552C>T (p.Ser184=)
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NM_213607.3(CCDC103):c.555G>A (p.Arg185=)
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NM_213607.3(CCDC103):c.558A>G (p.Ala186=)
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NM_213607.3(CCDC103):c.594G>A (p.Leu198=)
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NM_213607.3(CCDC103):c.606C>A (p.Gly202=)
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rs763062802
|
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NM_213607.3(CCDC103):c.630G>A (p.Gly210=)
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NM_213607.3(CCDC103):c.633C>T (p.Leu211=)
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NM_213607.3(CCDC103):c.648G>A (p.Gln216=)
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NM_213607.3(CCDC103):c.657G>A (p.Glu219=)
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NM_213607.3(CCDC103):c.66T>A (p.Ala22=)
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NM_213607.3(CCDC103):c.66T>C (p.Ala22=)
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NM_213607.3(CCDC103):c.675C>T (p.Leu225=)
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NM_213607.3(CCDC103):c.696G>A (p.Leu232=)
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NM_213607.3(CCDC103):c.69T>C (p.Asp23=)
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NM_213607.3(CCDC103):c.711G>A (p.Glu237=)
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NM_213607.3(CCDC103):c.717C>T (p.Tyr239=)
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NM_213607.3(CCDC103):c.720G>A (p.Gln240=)
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NM_213607.3(CCDC103):c.78C>T (p.Tyr26=)
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NM_213607.3(CCDC103):c.81A>G (p.Lys27=)
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rs1567763166
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