NM_001369.3(DNAH5):c.36T>G (p.His12Gln)
|
rs339445
|
0.92715
|
NM_001369.3(DNAH5):c.13348A>G (p.Ile4450Val)
|
rs3734110
|
0.53284
|
NM_001369.3(DNAH5):c.2229T>C (p.Asp743=)
|
rs1445823
|
0.53068
|
NM_001369.3(DNAH5):c.2296A>T (p.Ile766Leu)
|
rs4701997
|
0.50396
|
NM_001369.3(DNAH5):c.4152A>G (p.Thr1384=)
|
rs7703349
|
0.48933
|
NM_001369.3(DNAH5):c.13359A>G (p.Thr4453=)
|
rs3734111
|
0.48605
|
NM_001369.3(DNAH5):c.12401C>T (p.Ala4134Val)
|
rs30168
|
0.44440
|
NM_001369.3(DNAH5):c.1503T>C (p.Ile501=)
|
rs3213936
|
0.43495
|
NM_001369.3(DNAH5):c.1644+444C>T
|
rs9312852
|
0.41821
|
NM_001369.3(DNAH5):c.192+14C>G
|
rs1530497
|
0.41173
|
NM_001369.3(DNAH5):c.5172C>T (p.Ala1724=)
|
rs10041113
|
0.40226
|
NM_001369.3(DNAH5):c.5115-5T>C
|
rs4429853
|
0.40224
|
NM_001369.3(DNAH5):c.6264C>T (p.Ala2088=)
|
rs1348689
|
0.40167
|
NM_001369.3(DNAH5):c.12468A>C (p.Gly4156=)
|
rs30169
|
0.40053
|
NM_001369.3(DNAH5):c.6444+11C>T
|
rs1348691
|
0.39914
|
NM_001369.3(DNAH5):c.71G>A (p.Gly24Glu)
|
rs1530496
|
0.39883
|
NM_001369.3(DNAH5):c.4374G>T (p.Arg1458=)
|
rs6554827
|
0.39500
|
NM_001369.3(DNAH5):c.12910-11C>T
|
rs30175
|
0.39090
|
NM_001369.3(DNAH5):c.7609+19C>T
|
rs35732567
|
0.37414
|
NM_001369.3(DNAH5):c.5114+11T>C
|
rs6554820
|
0.37240
|
NM_001369.3(DNAH5):c.9721-12A>T
|
rs12655133
|
0.35219
|
NM_001369.3(DNAH5):c.10473G>A (p.Thr3491=)
|
rs2401809
|
0.34838
|
NM_001369.3(DNAH5):c.1672A>G (p.Thr558Ala)
|
rs1530498
|
0.34505
|
NM_001369.3(DNAH5):c.10140A>G (p.Glu3380=)
|
rs6554812
|
0.30832
|
NM_001369.3(DNAH5):c.3258T>C (p.Leu1086=)
|
rs10057007
|
0.25350
|
NM_001369.3(DNAH5):c.8586G>T (p.Leu2862Phe)
|
rs10513155
|
0.23716
|
NM_001369.3(DNAH5):c.7388A>G (p.Gln2463Arg)
|
rs10078391
|
0.20605
|
NM_001369.3(DNAH5):c.12658A>G (p.Thr4220Ala)
|
rs2277046
|
0.09802
|
NM_001369.3(DNAH5):c.13462C>A (p.Pro4488Thr)
|
rs113425437
|
0.03898
|
NM_001369.3(DNAH5):c.6444+8A>G
|
rs1348690
|
0.02931
|
NM_001369.3(DNAH5):c.1772T>G (p.Leu591Arg)
|
rs35090077
|
0.02877
|
NM_001369.3(DNAH5):c.1395C>T (p.Ser465=)
|
rs34580014
|
0.02846
|
NM_001369.3(DNAH5):c.12708T>C (p.Gly4236=)
|
rs61744054
|
0.02551
|
NM_001369.3(DNAH5):c.8449-12T>C
|
rs111313933
|
0.02531
|
NM_001369.3(DNAH5):c.9522G>A (p.Thr3174=)
|
rs35233147
|
0.02485
|
NM_001369.3(DNAH5):c.58-13T>C
|
rs115758625
|
0.02407
|
NM_001369.3(DNAH5):c.2578-7T>G
|
rs201833201
|
0.02378
|
NM_001369.3(DNAH5):c.8898G>A (p.Thr2966=)
|
rs111995400
|
0.02321
|
NM_001369.3(DNAH5):c.7274G>A (p.Arg2425His)
|
rs35900306
|
0.02307
|
NM_001369.3(DNAH5):c.4431C>T (p.Ser1477=)
|
rs74451896
|
0.02161
|
NM_001369.3(DNAH5):c.13071C>T (p.Ala4357=)
|
rs10077457
|
0.02135
|
NM_001369.3(DNAH5):c.2683G>A (p.Glu895Lys)
|
rs76229167
|
0.01663
|
NM_001369.3(DNAH5):c.6989-13T>C
|
rs112344370
|
0.01579
|
NM_001369.3(DNAH5):c.3301G>A (p.Val1101Met)
|
rs61747516
|
0.01505
|
NM_001369.3(DNAH5):c.3241A>G (p.Met1081Val)
|
rs16902880
|
0.01472
|
NM_001369.3(DNAH5):c.3016A>G (p.Ser1006Gly)
|
rs16902886
|
0.01470
|
NM_001369.3(DNAH5):c.5658C>T (p.Tyr1886=)
|
rs6880264
|
0.01314
|
NM_001369.3(DNAH5):c.3598+20T>C
|
rs114961699
|
0.01057
|
NM_001369.3(DNAH5):c.13338+16C>T
|
rs115271897
|
0.01021
|
NM_001369.3(DNAH5):c.3987A>G (p.Lys1329=)
|
rs146191243
|
0.01011
|
NM_001369.3(DNAH5):c.6061+10A>G
|
rs77957856
|
0.00962
|
NM_001369.3(DNAH5):c.6703T>G (p.Leu2235Val)
|
rs115109673
|
0.00961
|
NM_001369.3(DNAH5):c.12280-17T>C
|
rs10214399
|
0.00956
|
NM_001369.3(DNAH5):c.5484+17T>C
|
rs16902828
|
0.00937
|
NM_001369.3(DNAH5):c.6579+20G>A
|
rs115382993
|
0.00928
|
NM_001369.3(DNAH5):c.1647C>G (p.Asn549Lys)
|
rs139160176
|
0.00831
|
NM_001369.3(DNAH5):c.5224T>C (p.Leu1742=)
|
rs35963491
|
0.00809
|
NM_001369.3(DNAH5):c.6919G>A (p.Val2307Ile)
|
rs74604638
|
0.00808
|
NM_001369.3(DNAH5):c.6579+6A>G
|
rs141389162
|
0.00798
|
NM_001369.3(DNAH5):c.12923A>G (p.Tyr4308Cys)
|
rs115075057
|
0.00713
|
NM_001369.3(DNAH5):c.13467G>A (p.Gln4489=)
|
rs140498500
|
0.00702
|
NM_001369.3(DNAH5):c.1858C>A (p.Gln620Lys)
|
rs34076967
|
0.00563
|
NM_001369.3(DNAH5):c.5115-4G>T
|
rs141141086
|
0.00551
|
NM_001369.3(DNAH5):c.9150C>T (p.Ser3050=)
|
rs77477793
|
0.00527
|
NM_001369.3(DNAH5):c.5707C>T (p.Leu1903=)
|
rs7719896
|
0.00439
|
NM_001369.3(DNAH5):c.6062-4G>A
|
rs143392650
|
0.00433
|
NM_001369.3(DNAH5):c.2253C>A (p.Asn751Lys)
|
rs115004914
|
0.00414
|
NM_001369.3(DNAH5):c.5281C>G (p.Arg1761Gly)
|
rs148891849
|
0.00388
|
NM_001369.3(DNAH5):c.12465A>G (p.Gln4155=)
|
rs34924315
|
0.00359
|
NM_001369.3(DNAH5):c.5709+18G>T
|
rs111904415
|
0.00348
|
NM_001369.3(DNAH5):c.8757G>C (p.Glu2919Asp)
|
rs115776799
|
0.00334
|
NM_001369.3(DNAH5):c.4796+11C>A
|
rs146696580
|
0.00299
|
NM_001369.3(DNAH5):c.10457T>C (p.Met3486Thr)
|
rs141651941
|
0.00285
|
NM_001369.3(DNAH5):c.5266G>A (p.Glu1756Lys)
|
rs116524991
|
0.00282
|
NM_001369.3(DNAH5):c.299G>C (p.Gly100Ala)
|
rs144236383
|
0.00278
|
NM_001369.3(DNAH5):c.4510G>C (p.Gly1504Arg)
|
rs143567667
|
0.00277
|
NM_001369.3(DNAH5):c.7752+10T>C
|
rs149460805
|
0.00253
|
NM_001369.3(DNAH5):c.9681A>G (p.Lys3227=)
|
rs138639741
|
0.00252
|
NM_001369.3(DNAH5):c.8805G>C (p.Met2935Ile)
|
rs77874614
|
0.00250
|
NM_001369.3(DNAH5):c.12346A>G (p.Ile4116Val)
|
rs34920399
|
0.00249
|
NM_001369.3(DNAH5):c.624C>T (p.Asn208=)
|
rs139640247
|
0.00228
|
NM_001369.3(DNAH5):c.9355A>G (p.Lys3119Glu)
|
rs76690956
|
0.00205
|
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_001369.3(DNAH5):c.9244C>A (p.Leu3082Ile)
|
rs147372600
|
0.00180
|
NM_001369.3(DNAH5):c.9941G>A (p.Arg3314His)
|
rs143858741
|
0.00180
|
NM_001369.3(DNAH5):c.3363T>G (p.Ser1121=)
|
rs58266192
|
0.00179
|
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_001369.3(DNAH5):c.1321-15T>C
|
rs202081804
|
0.00160
|
NM_001369.3(DNAH5):c.1206T>A (p.Asn402Lys)
|
rs140782270
|
0.00158
|
NM_001369.3(DNAH5):c.5882+6G>A
|
rs377640010
|
0.00158
|
NM_001369.3(DNAH5):c.6529G>C (p.Glu2177Gln)
|
rs116069486
|
0.00153
|
NM_001369.3(DNAH5):c.8845C>G (p.Gln2949Glu)
|
rs147688221
|
0.00146
|
NM_001369.3(DNAH5):c.7998G>T (p.Glu2666Asp)
|
rs148720124
|
0.00139
|
NM_001369.3(DNAH5):c.6039A>C (p.Arg2013=)
|
rs112102932
|
0.00132
|
NM_001369.3(DNAH5):c.8137C>T (p.Arg2713Cys)
|
rs111912673
|
0.00131
|
NM_001369.3(DNAH5):c.7065T>C (p.Asp2355=)
|
rs149045168
|
0.00128
|
NM_001369.3(DNAH5):c.13286G>A (p.Arg4429Gln)
|
rs61744047
|
0.00127
|
NM_001369.3(DNAH5):c.5944G>A (p.Ala1982Thr)
|
rs150814892
|
0.00127
|
NM_001369.3(DNAH5):c.1476G>A (p.Thr492=)
|
rs150994380
|
0.00124
|
NM_001369.3(DNAH5):c.2443T>A (p.Leu815Met)
|
rs149654950
|
0.00124
|
NM_001369.3(DNAH5):c.7753-9C>G
|
rs377367981
|
0.00122
|
NM_001369.3(DNAH5):c.3775G>A (p.Ala1259Thr)
|
rs112217391
|
0.00120
|
NM_001369.3(DNAH5):c.12472C>T (p.Arg4158Trp)
|
rs3756672
|
0.00118
|
NM_001369.3(DNAH5):c.8862G>T (p.Leu2954=)
|
rs145381989
|
0.00118
|
NM_001369.3(DNAH5):c.7752+7C>G
|
rs143848918
|
0.00116
|
NM_001369.3(DNAH5):c.8002G>A (p.Gly2668Arg)
|
rs147236883
|
0.00115
|
NM_001369.3(DNAH5):c.2355C>T (p.Leu785=)
|
rs112238091
|
0.00114
|
NM_001369.3(DNAH5):c.3650T>C (p.Ile1217Thr)
|
rs112124692
|
0.00112
|
NM_001369.3(DNAH5):c.1251C>T (p.Thr417=)
|
rs112911055
|
0.00109
|
NM_001369.3(DNAH5):c.11437C>T (p.Arg3813Trp)
|
rs140948493
|
0.00107
|
NM_001369.3(DNAH5):c.1644+12A>G
|
rs201116549
|
0.00106
|
NM_001369.3(DNAH5):c.3021G>T (p.Leu1007Phe)
|
rs188638970
|
0.00103
|
NM_001369.3(DNAH5):c.2578-9T>G
|
rs1466288520
|
0.00100
|
NM_001369.3(DNAH5):c.88C>T (p.Arg30Trp)
|
rs114220185
|
0.00096
|
NM_001369.3(DNAH5):c.5484+20A>C
|
rs376520355
|
0.00092
|
NM_001369.3(DNAH5):c.6715C>T (p.Pro2239Ser)
|
rs112360385
|
0.00089
|
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_001369.3(DNAH5):c.6752C>T (p.Thr2251Met)
|
rs146392250
|
0.00085
|
NM_001369.3(DNAH5):c.4373G>A (p.Arg1458Gln)
|
rs61747551
|
0.00081
|
NM_001369.3(DNAH5):c.1090-14G>T
|
rs150627172
|
0.00079
|
NM_001369.3(DNAH5):c.11140A>G (p.Ile3714Val)
|
rs143185806
|
0.00077
|
NM_001369.3(DNAH5):c.9203A>G (p.Glu3068Gly)
|
rs141571121
|
0.00077
|
NM_001369.3(DNAH5):c.1329G>A (p.Gln443=)
|
rs141621142
|
0.00076
|
NM_001369.3(DNAH5):c.10367C>T (p.Ala3456Val)
|
rs149956015
|
0.00070
|
NM_001369.3(DNAH5):c.4509C>T (p.Thr1503=)
|
rs138157585
|
0.00070
|
NM_001369.3(DNAH5):c.8224+15G>A
|
rs148099176
|
0.00070
|
NM_001369.3(DNAH5):c.6445-20A>G
|
rs181135242
|
0.00068
|
NM_001369.3(DNAH5):c.1715T>G (p.Leu572Trp)
|
rs137878131
|
0.00067
|
NM_001369.3(DNAH5):c.2578-10T>G
|
rs756212532
|
0.00065
|
NM_001369.3(DNAH5):c.3262+19T>C
|
rs557101898
|
0.00064
|
NM_001369.3(DNAH5):c.1121T>C (p.Ile374Thr)
|
rs147499872
|
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_001369.3(DNAH5):c.12500-11G>A
|
rs200056509
|
0.00057
|
NM_001369.3(DNAH5):c.9410G>A (p.Cys3137Tyr)
|
rs143357437
|
0.00057
|
NM_001369.3(DNAH5):c.5643G>A (p.Thr1881=)
|
rs150429110
|
0.00056
|
NM_001369.3(DNAH5):c.9898-18G>A
|
rs181478641
|
0.00054
|
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_001369.3(DNAH5):c.1198G>A (p.Val400Met)
|
rs144575803
|
0.00050
|
NM_001369.3(DNAH5):c.1882T>G (p.Leu628Val)
|
rs143745645
|
0.00048
|
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_001369.3(DNAH5):c.1250C>G (p.Thr417Ser)
|
rs149202369
|
0.00044
|
NM_001369.3(DNAH5):c.8225-17A>G
|
rs140629887
|
0.00044
|
NM_001369.3(DNAH5):c.917G>A (p.Ser306Asn)
|
rs144128250
|
0.00044
|
NM_001369.3(DNAH5):c.1114A>G (p.Thr372Ala)
|
rs140227610
|
0.00042
|
NM_001369.3(DNAH5):c.8224+18G>A
|
rs183622722
|
0.00040
|
NM_001369.3(DNAH5):c.962C>T (p.Ser321Leu)
|
rs201077964
|
0.00040
|
NM_001369.3(DNAH5):c.11476C>T (p.Leu3826Phe)
|
rs146750552
|
0.00039
|
NM_001369.3(DNAH5):c.13125+10T>A
|
rs2277047
|
0.00039
|
NM_001369.3(DNAH5):c.13778C>T (p.Thr4593Met)
|
rs142036266
|
0.00039
|
NM_001369.3(DNAH5):c.4525G>A (p.Val1509Met)
|
rs140345677
|
0.00039
|
NM_001369.3(DNAH5):c.6409C>A (p.Leu2137Ile)
|
rs181884470
|
0.00039
|
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_001369.3(DNAH5):c.8804T>C (p.Met2935Thr)
|
rs750633804
|
0.00036
|
NM_001369.3(DNAH5):c.7531C>T (p.Arg2511Trp)
|
rs564040169
|
0.00035
|
NM_001369.3(DNAH5):c.894C>G (p.Asn298Lys)
|
rs116995413
|
0.00033
|
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_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_001369.3(DNAH5):c.2200C>G (p.Leu734Val)
|
rs139180192
|
0.00030
|
NM_001369.3(DNAH5):c.507G>A (p.Ser169=)
|
rs146663590
|
0.00030
|
NM_001369.3(DNAH5):c.1126G>T (p.Ala376Ser)
|
rs201469505
|
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.9461A>C (p.Asp3154Ala)
|
rs149187750
|
0.00029
|
NM_001369.3(DNAH5):c.975+6C>T
|
rs151000177
|
0.00029
|
NM_001369.3(DNAH5):c.8247C>T (p.Tyr2749=)
|
rs367946282
|
0.00027
|
NM_001369.3(DNAH5):c.2431+5G>A
|
rs369244905
|
0.00026
|
NM_001369.3(DNAH5):c.382G>A (p.Val128Met)
|
rs200553244
|
0.00026
|
NM_001369.3(DNAH5):c.4961G>A (p.Arg1654Gln)
|
rs150868941
|
0.00026
|
NM_001369.3(DNAH5):c.12523G>A (p.Val4175Met)
|
rs148123430
|
0.00025
|
NM_001369.3(DNAH5):c.7684A>T (p.Ile2562Phe)
|
rs151287187
|
0.00025
|
NM_001369.3(DNAH5):c.10435G>A (p.Ala3479Thr)
|
rs143295106
|
0.00024
|
NM_001369.3(DNAH5):c.11570+13G>A
|
rs80199741
|
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.367C>T (p.Leu123Phe)
|
rs148017278
|
0.00024
|
NM_001369.3(DNAH5):c.6731A>T (p.Lys2244Met)
|
rs187023993
|
0.00024
|
NM_001369.3(DNAH5):c.10066T>C (p.Leu3356=)
|
rs138441172
|
0.00023
|
NM_001369.3(DNAH5):c.11761+5A>G
|
rs780205801
|
0.00022
|
NM_001369.3(DNAH5):c.4082C>G (p.Pro1361Arg)
|
rs145533843
|
0.00022
|
NM_001369.3(DNAH5):c.5196G>T (p.Ala1732=)
|
rs201484389
|
0.00022
|
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs)
|
rs397515540
|
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_001369.3(DNAH5):c.11954A>G (p.Asn3985Ser)
|
rs200865219
|
0.00020
|
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.330A>T (p.Lys110Asn)
|
rs138832246
|
0.00019
|
NM_001369.3(DNAH5):c.4360C>T (p.Arg1454Ter)
|
rs148139814
|
0.00019
|
NM_001369.3(DNAH5):c.5991C>T (p.Leu1997=)
|
rs376001456
|
0.00019
|
NM_001369.3(DNAH5):c.6230T>C (p.Phe2077Ser)
|
rs141196027
|
0.00019
|
NM_001369.3(DNAH5):c.6385G>C (p.Val2129Leu)
|
rs150095347
|
0.00019
|
NM_001369.3(DNAH5):c.7476G>T (p.Ala2492=)
|
rs778257130
|
0.00019
|
NM_001369.3(DNAH5):c.8999G>A (p.Arg3000Gln)
|
rs137949961
|
0.00019
|
NM_001369.3(DNAH5):c.11974G>C (p.Asp3992His)
|
rs143251480
|
0.00018
|
NM_001369.3(DNAH5):c.13837G>A (p.Val4613Met)
|
rs147583407
|
0.00018
|
NM_001369.3(DNAH5):c.1752T>C (p.Gly584=)
|
rs201028861
|
0.00018
|
NM_001369.3(DNAH5):c.1967C>T (p.Ala656Val)
|
rs147911274
|
0.00018
|
NM_001369.3(DNAH5):c.10789G>T (p.Ala3597Ser)
|
rs368959723
|
0.00016
|
NM_001369.3(DNAH5):c.574G>A (p.Ala192Thr)
|
rs140700961
|
0.00016
|
NM_001369.3(DNAH5):c.11570+5G>A
|
rs771916783
|
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_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.13492-15T>C
|
rs192514899
|
0.00014
|
NM_001369.3(DNAH5):c.13775G>A (p.Arg4592Gln)
|
rs367709427
|
0.00014
|
NM_001369.3(DNAH5):c.1648G>A (p.Glu550Lys)
|
rs145962029
|
0.00014
|
NM_001369.3(DNAH5):c.3315C>A (p.Asn1105Lys)
|
rs144053917
|
0.00014
|
NM_001369.3(DNAH5):c.4258A>G (p.Asn1420Asp)
|
rs201841311
|
0.00014
|
NM_001369.3(DNAH5):c.4596+5A>C
|
rs182677317
|
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_001369.3(DNAH5):c.11559T>C (p.Leu3853=)
|
rs774935271
|
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.2891A>T (p.His964Leu)
|
rs199698421
|
0.00013
|
NM_001369.3(DNAH5):c.4361G>A (p.Arg1454Gln)
|
rs542708170
|
0.00013
|
NM_001369.3(DNAH5):c.5438A>G (p.Glu1813Gly)
|
rs199910966
|
0.00013
|
NM_001369.3(DNAH5):c.7943C>T (p.Ala2648Val)
|
rs201939338
|
0.00012
|
NM_001369.3(DNAH5):c.8512A>C (p.Ser2838Arg)
|
rs763198301
|
0.00012
|
NM_001369.3(DNAH5):c.8837G>A (p.Arg2946His)
|
rs140975593
|
0.00012
|
NM_001369.3(DNAH5):c.8940C>T (p.Ile2980=)
|
rs144001451
|
0.00012
|
NM_001369.3(DNAH5):c.10084T>A (p.Phe3362Ile)
|
rs373406041
|
0.00011
|
NM_001369.3(DNAH5):c.10731C>G (p.Asn3577Lys)
|
rs376292253
|
0.00011
|
NM_001369.3(DNAH5):c.11376C>T (p.Ala3792=)
|
rs755149967
|
0.00011
|
NM_001369.3(DNAH5):c.11492C>G (p.Thr3831Ser)
|
rs111313832
|
0.00011
|
NM_001369.3(DNAH5):c.13437C>T (p.Cys4479=)
|
rs376510352
|
0.00011
|
NM_001369.3(DNAH5):c.13724-17T>G
|
rs201764984
|
0.00011
|
NM_001369.3(DNAH5):c.1955G>A (p.Ser652Asn)
|
rs749126116
|
0.00011
|
NM_001369.3(DNAH5):c.2039C>T (p.Ala680Val)
|
rs374086061
|
0.00011
|
NM_001369.3(DNAH5):c.2203G>C (p.Ala735Pro)
|
rs150793327
|
0.00011
|
NM_001369.3(DNAH5):c.3112G>A (p.Val1038Met)
|
rs146828513
|
0.00011
|
NM_001369.3(DNAH5):c.3397-8G>T
|
rs200694593
|
0.00011
|
NM_001369.3(DNAH5):c.360T>C (p.Asp120=)
|
rs368412855
|
0.00011
|
NM_001369.3(DNAH5):c.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.5265C>T (p.His1755=)
|
rs373540353
|
0.00011
|
NM_001369.3(DNAH5):c.5692G>A (p.Asp1898Asn)
|
rs149834171
|
0.00011
|
NM_001369.3(DNAH5):c.6444+4T>C
|
rs377638408
|
0.00011
|
NM_001369.3(DNAH5):c.7502G>C (p.Arg2501Pro)
|
rs78853309
|
0.00011
|
NM_001369.3(DNAH5):c.7605C>T (p.Pro2535=)
|
rs375573515
|
0.00011
|
NM_001369.3(DNAH5):c.8921G>A (p.Gly2974Asp)
|
rs373899654
|
0.00011
|
NM_001369.3(DNAH5):c.10036A>G (p.Thr3346Ala)
|
rs141971313
|
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.8765G>A (p.Arg2922His)
|
rs148539877
|
0.00010
|
NM_001369.3(DNAH5):c.9108C>A (p.Val3036=)
|
rs750009811
|
0.00010
|
NM_001369.3(DNAH5):c.9626A>G (p.Lys3209Arg)
|
rs201473584
|
0.00010
|
NM_001369.3(DNAH5):c.10658G>A (p.Arg3553Gln)
|
rs144393366
|
0.00009
|
NM_001369.3(DNAH5):c.11512G>A (p.Glu3838Lys)
|
rs190450522
|
0.00009
|
NM_001369.3(DNAH5):c.12123A>C (p.Pro4041=)
|
rs149580135
|
0.00009
|
NM_001369.3(DNAH5):c.12251G>A (p.Arg4084Gln)
|
rs140832239
|
0.00009
|
NM_001369.3(DNAH5):c.12413T>G (p.Phe4138Cys)
|
rs757393675
|
0.00009
|
NM_001369.3(DNAH5):c.13038T>A (p.Gly4346=)
|
rs768406077
|
0.00009
|
NM_001369.3(DNAH5):c.13070C>G (p.Ala4357Gly)
|
rs368776967
|
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.4286A>G (p.Tyr1429Cys)
|
rs141052175
|
0.00009
|
NM_001369.3(DNAH5):c.633G>A (p.Ser211=)
|
rs151075351
|
0.00009
|
NM_001369.3(DNAH5):c.6407C>T (p.Thr2136Met)
|
rs140690090
|
0.00009
|
NM_001369.3(DNAH5):c.6970A>G (p.Thr2324Ala)
|
rs143074036
|
0.00009
|
NM_001369.3(DNAH5):c.7888-20A>T
|
rs756960542
|
0.00009
|
NM_001369.3(DNAH5):c.9816C>T (p.Ser3272=)
|
rs749710045
|
0.00009
|
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.56C>T (p.Thr19Met)
|
rs757712771
|
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.8387A>G (p.Asp2796Gly)
|
rs727502974
|
0.00008
|
NM_001369.3(DNAH5):c.8828G>A (p.Arg2943His)
|
rs184758570
|
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_001369.3(DNAH5):c.9911C>T (p.Ser3304Leu)
|
rs139821753
|
0.00008
|
NM_001369.3(DNAH5):c.9919G>A (p.Ala3307Thr)
|
rs757212818
|
0.00008
|
NM_001369.3(DNAH5):c.10646A>G (p.Glu3549Gly)
|
rs758546967
|
0.00007
|
NM_001369.3(DNAH5):c.11969C>A (p.Ser3990Tyr)
|
rs1000624148
|
0.00007
|
NM_001369.3(DNAH5):c.11998A>T (p.Ile4000Phe)
|
rs1490888369
|
0.00007
|
NM_001369.3(DNAH5):c.13746C>T (p.Tyr4582=)
|
rs369094478
|
0.00007
|
NM_001369.3(DNAH5):c.3379A>G (p.Ile1127Val)
|
rs763824667
|
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_001369.3(DNAH5):c.10035T>C (p.Cys3345=)
|
rs150268680
|
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.10616G>A (p.Arg3539His)
|
rs769458738
|
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.1089+1G>A
|
rs574586008
|
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.13448C>T (p.Thr4483Met)
|
rs141828476
|
0.00006
|
NM_001369.3(DNAH5):c.13486C>T (p.Arg4496Ter)
|
rs200901816
|
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.1612G>A (p.Glu538Lys)
|
rs141651575
|
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.2052+17A>G
|
rs369276405
|
0.00006
|
NM_001369.3(DNAH5):c.2235C>T (p.Tyr745=)
|
rs139916610
|
0.00006
|
NM_001369.3(DNAH5):c.2577+5T>C
|
rs201596289
|
0.00006
|
NM_001369.3(DNAH5):c.2708A>C (p.Asn903Thr)
|
rs749503841
|
0.00006
|
NM_001369.3(DNAH5):c.2861A>C (p.Glu954Ala)
|
rs753696648
|
0.00006
|
NM_001369.3(DNAH5):c.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.6249G>A (p.Met2083Ile)
|
rs753614861
|
0.00006
|
NM_001369.3(DNAH5):c.632C>T (p.Ser211Leu)
|
rs139857637
|
0.00006
|
NM_001369.3(DNAH5):c.6346A>C (p.Arg2116=)
|
rs747370414
|
0.00006
|
NM_001369.3(DNAH5):c.6590A>G (p.Asp2197Gly)
|
rs766882502
|
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.7452C>A (p.Phe2484Leu)
|
rs561666802
|
0.00006
|
NM_001369.3(DNAH5):c.7560G>T (p.Pro2520=)
|
rs762130845
|
0.00006
|
NM_001369.3(DNAH5):c.7602G>T (p.Ala2534=)
|
rs770309996
|
0.00006
|
NM_001369.3(DNAH5):c.7741A>G (p.Lys2581Glu)
|
rs142302585
|
0.00006
|
NM_001369.3(DNAH5):c.7752+3A>G
|
rs200385399
|
0.00006
|
NM_001369.3(DNAH5):c.8398G>A (p.Val2800Ile)
|
rs770453841
|
0.00006
|
NM_001369.3(DNAH5):c.8600T>A (p.Ile2867Asn)
|
rs572852817
|
0.00006
|
NM_001369.3(DNAH5):c.8611T>C (p.Phe2871Leu)
|
rs138494768
|
0.00006
|
NM_001369.3(DNAH5):c.8748C>T (p.Leu2916=)
|
rs556119081
|
0.00006
|
NM_001369.3(DNAH5):c.8956T>C (p.Tyr2986His)
|
rs369931315
|
0.00006
|
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.1830G>A (p.Gln610=)
|
rs549164618
|
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.300G>C (p.Gly100=)
|
rs543407739
|
0.00005
|
NM_001369.3(DNAH5):c.3037A>G (p.Ser1013Gly)
|
rs369783406
|
0.00005
|
NM_001369.3(DNAH5):c.3302T>C (p.Val1101Ala)
|
rs376453450
|
0.00005
|
NM_001369.3(DNAH5):c.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.5425G>A (p.Ala1809Thr)
|
rs758513686
|
0.00005
|
NM_001369.3(DNAH5):c.5776G>A (p.Glu1926Lys)
|
rs771222700
|
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_001369.3(DNAH5):c.9538T>G (p.Ser3180Ala)
|
rs375817990
|
0.00005
|
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.10384C>T (p.Gln3462Ter)
|
rs571919972
|
0.00004
|
NM_001369.3(DNAH5):c.10427T>G (p.Leu3476Arg)
|
rs746513280
|
0.00004
|
NM_001369.3(DNAH5):c.10615C>T (p.Arg3539Cys)
|
rs1304504006
|
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.1240A>G (p.Asn414Asp)
|
rs143391709
|
0.00004
|
NM_001369.3(DNAH5):c.12490A>G (p.Thr4164Ala)
|
rs753204839
|
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.2944C>T (p.Arg982Cys)
|
rs143673459
|
0.00004
|
NM_001369.3(DNAH5):c.2984A>G (p.Asp995Gly)
|
rs749983185
|
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.4116G>C (p.Gln1372His)
|
rs139463637
|
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.4481G>A (p.Arg1494Gln)
|
rs372291214
|
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.5198C>T (p.Ser1733Leu)
|
rs146087064
|
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.5878G>T (p.Asp1960Tyr)
|
rs1298235452
|
0.00004
|
NM_001369.3(DNAH5):c.5932C>G (p.Pro1978Ala)
|
rs138222058
|
0.00004
|
NM_001369.3(DNAH5):c.6007G>A (p.Val2003Ile)
|
rs776402895
|
0.00004
|
NM_001369.3(DNAH5):c.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.8404C>T (p.Gln2802Ter)
|
rs1193586811
|
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.9400G>A (p.Asp3134Asn)
|
rs1038976235
|
0.00004
|
NM_001369.3(DNAH5):c.9705C>T (p.Asn3235=)
|
rs770064361
|
0.00004
|
NM_001369.3(DNAH5):c.9714C>T (p.Ala3238=)
|
rs375561333
|
0.00004
|
NM_001369.3(DNAH5):c.9715G>A (p.Asp3239Asn)
|
rs531401316
|
0.00004
|
NM_001369.3(DNAH5):c.983G>A (p.Arg328Gln)
|
rs376626613
|
0.00004
|
NM_001369.3(DNAH5):c.10041G>T (p.Met3347Ile)
|
rs536239913
|
0.00003
|
NM_001369.3(DNAH5):c.10282G>A (p.Ala3428Thr)
|
rs760220268
|
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.11528C>T (p.Ser3843Leu)
|
rs78346432
|
0.00003
|
NM_001369.3(DNAH5):c.11533C>T (p.Arg3845Cys)
|
rs565819640
|
0.00003
|
NM_001369.3(DNAH5):c.11571-9A>G
|
rs779715252
|
0.00003
|
NM_001369.3(DNAH5):c.11583C>A (p.Ser3861Arg)
|
rs576096758
|
0.00003
|
NM_001369.3(DNAH5):c.11586G>A (p.Pro3862=)
|
rs755874851
|
0.00003
|
NM_001369.3(DNAH5):c.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.12374C>T (p.Ala4125Val)
|
rs370757783
|
0.00003
|
NM_001369.3(DNAH5):c.12380G>A (p.Arg4127His)
|
rs762555871
|
0.00003
|
NM_001369.3(DNAH5):c.12414T>C (p.Phe4138=)
|
rs754273700
|
0.00003
|
NM_001369.3(DNAH5):c.12603C>T (p.Phe4201=)
|
rs758897089
|
0.00003
|
NM_001369.3(DNAH5):c.12857G>A (p.Gly4286Glu)
|
rs185104576
|
0.00003
|
NM_001369.3(DNAH5):c.13065G>C (p.Val4355=)
|
rs372488592
|
0.00003
|
NM_001369.3(DNAH5):c.13068G>A (p.Val4356=)
|
rs141961399
|
0.00003
|
NM_001369.3(DNAH5):c.13123G>A (p.Glu4375Lys)
|
rs955768429
|
0.00003
|
NM_001369.3(DNAH5):c.13492-11G>T
|
rs749125197
|
0.00003
|
NM_001369.3(DNAH5):c.13745A>G (p.Tyr4582Cys)
|
rs749862482
|
0.00003
|
NM_001369.3(DNAH5):c.13843C>T (p.Arg4615Cys)
|
rs771613197
|
0.00003
|
NM_001369.3(DNAH5):c.1419C>T (p.Phe473=)
|
rs373172723
|
0.00003
|
NM_001369.3(DNAH5):c.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.3905del (p.Leu1302fs)
|
rs754698253
|
0.00003
|
NM_001369.3(DNAH5):c.4072G>A (p.Gly1358Ser)
|
rs752638332
|
0.00003
|
NM_001369.3(DNAH5):c.4331A>G (p.Asn1444Ser)
|
rs567013299
|
0.00003
|
NM_001369.3(DNAH5):c.4355+5G>A
|
rs774366812
|
0.00003
|
NM_001369.3(DNAH5):c.4384G>T (p.Asp1462Tyr)
|
rs1189846120
|
0.00003
|
NM_001369.3(DNAH5):c.46C>T (p.Arg16Ter)
|
rs772230378
|
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.5647C>T (p.Arg1883Ter)
|
rs575017579
|
0.00003
|
NM_001369.3(DNAH5):c.5710-2A>G
|
rs548521732
|
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.6444+1G>A
|
rs781236248
|
0.00003
|
NM_001369.3(DNAH5):c.6492C>T (p.Thr2164=)
|
rs1020749137
|
0.00003
|
NM_001369.3(DNAH5):c.6515A>G (p.Asn2172Ser)
|
rs760155330
|
0.00003
|
NM_001369.3(DNAH5):c.6579+8T>G
|
rs763394193
|
0.00003
|
NM_001369.3(DNAH5):c.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.7987A>G (p.Ile2663Val)
|
rs113576049
|
0.00003
|
NM_001369.3(DNAH5):c.8006A>T (p.Asp2669Val)
|
rs770090882
|
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.8647+5A>C
|
rs748450478
|
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.9128A>T (p.Asp3043Val)
|
rs759475605
|
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_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.10312C>T (p.Leu3438Phe)
|
rs1165709485
|
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.10982A>G (p.Asp3661Gly)
|
rs1420575942
|
0.00002
|
NM_001369.3(DNAH5):c.11130T>C (p.Arg3710=)
|
rs765391783
|
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.11465G>A (p.Arg3822Gln)
|
rs779624238
|
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.11616C>G (p.Ile3872Met)
|
rs773699669
|
0.00002
|
NM_001369.3(DNAH5):c.11685C>G (p.Phe3895Leu)
|
rs149892711
|
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.12157T>C (p.Ser4053Pro)
|
rs140496584
|
0.00002
|
NM_001369.3(DNAH5):c.12361C>T (p.Leu4121Phe)
|
rs144234655
|
0.00002
|
NM_001369.3(DNAH5):c.12582T>C (p.Thr4194=)
|
rs1428718985
|
0.00002
|
NM_001369.3(DNAH5):c.12617G>A (p.Trp4206Ter)
|
rs372118787
|
0.00002
|
NM_001369.3(DNAH5):c.12694G>A (p.Asp4232Asn)
|
rs564134623
|
0.00002
|
NM_001369.3(DNAH5):c.12727C>T (p.Arg4243Cys)
|
rs150357258
|
0.00002
|
NM_001369.3(DNAH5):c.12734T>C (p.Met4245Thr)
|
rs766597612
|
0.00002
|
NM_001369.3(DNAH5):c.128T>C (p.Ile43Thr)
|
rs767228474
|
0.00002
|
NM_001369.3(DNAH5):c.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.1382A>G (p.Gln461Arg)
|
rs886060013
|
0.00002
|
NM_001369.3(DNAH5):c.1398G>A (p.Glu466=)
|
rs759227909
|
0.00002
|
NM_001369.3(DNAH5):c.1432C>T (p.Arg478Ter)
|
rs747900131
|
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.1658A>G (p.Lys553Arg)
|
rs767525835
|
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.2122G>T (p.Val708Leu)
|
rs779509527
|
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.439-2A>G
|
rs565076112
|
0.00002
|
NM_001369.3(DNAH5):c.4418T>C (p.Ile1473Thr)
|
rs779510008
|
0.00002
|
NM_001369.3(DNAH5):c.4420G>C (p.Asp1474His)
|
rs371703906
|
0.00002
|
NM_001369.3(DNAH5):c.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.5290T>C (p.Ser1764Pro)
|
rs748763552
|
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.5663C>T (p.Thr1888Ile)
|
rs777579934
|
0.00002
|
NM_001369.3(DNAH5):c.5714A>G (p.His1905Arg)
|
rs776745317
|
0.00002
|
NM_001369.3(DNAH5):c.5817G>A (p.Ala1939=)
|
rs556936569
|
0.00002
|
NM_001369.3(DNAH5):c.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.6416A>G (p.Lys2139Arg)
|
rs151336435
|
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.6763C>T (p.Arg2255Ter)
|
rs745918507
|
0.00002
|
NM_001369.3(DNAH5):c.6791G>A (p.Ser2264Asn)
|
rs78484669
|
0.00002
|
NM_001369.3(DNAH5):c.687T>C (p.Leu229=)
|
rs751174310
|
0.00002
|
NM_001369.3(DNAH5):c.6911G>A (p.Arg2304Gln)
|
rs558294959
|
0.00002
|
NM_001369.3(DNAH5):c.6918C>T (p.Asp2306=)
|
rs1437248302
|
0.00002
|
NM_001369.3(DNAH5):c.698C>T (p.Thr233Ile)
|
rs1416012949
|
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.7371G>C (p.Gln2457His)
|
rs1561324970
|
0.00002
|
NM_001369.3(DNAH5):c.7377T>A (p.Ile2459=)
|
rs200022014
|
0.00002
|
NM_001369.3(DNAH5):c.7465C>T (p.Leu2489=)
|
rs771511314
|
0.00002
|
NM_001369.3(DNAH5):c.7574G>A (p.Gly2525Glu)
|
rs1465026258
|
0.00002
|
NM_001369.3(DNAH5):c.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.8642C>G (p.Ala2881Gly)
|
rs727502973
|
0.00002
|
NM_001369.3(DNAH5):c.8647+6C>T
|
rs200250503
|
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.8897C>T (p.Thr2966Met)
|
rs202021335
|
0.00002
|
NM_001369.3(DNAH5):c.8926G>A (p.Val2976Ile)
|
rs752086486
|
0.00002
|
NM_001369.3(DNAH5):c.8948C>T (p.Thr2983Met)
|
rs750809719
|
0.00002
|
NM_001369.3(DNAH5):c.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_001369.3(DNAH5):c.10021C>G (p.Leu3341Val)
|
rs751746139
|
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.10186G>A (p.Ala3396Thr)
|
rs1751970470
|
0.00001
|
NM_001369.3(DNAH5):c.10226G>C (p.Trp3409Ser)
|
rs755407407
|
0.00001
|
NM_001369.3(DNAH5):c.10260C>T (p.Asn3420=)
|
rs771824980
|
0.00001
|
NM_001369.3(DNAH5):c.10262A>G (p.Lys3421Arg)
|
rs1751957147
|
0.00001
|
NM_001369.3(DNAH5):c.10293G>T (p.Val3431=)
|
rs1224680596
|
0.00001
|
NM_001369.3(DNAH5):c.10314C>T (p.Leu3438=)
|
rs886376710
|
0.00001
|
NM_001369.3(DNAH5):c.10375G>T (p.Asp3459Tyr)
|
rs751500950
|
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.10441C>T (p.Arg3481Ter)
|
rs886039500
|
0.00001
|
NM_001369.3(DNAH5):c.10458G>A (p.Met3486Ile)
|
rs376253368
|
0.00001
|
NM_001369.3(DNAH5):c.10527G>A (p.Glu3509=)
|
rs373514903
|
0.00001
|
NM_001369.3(DNAH5):c.1054G>T (p.Glu352Ter)
|
rs189080233
|
0.00001
|
NM_001369.3(DNAH5):c.10611G>A (p.Glu3537=)
|
rs773264493
|
0.00001
|
NM_001369.3(DNAH5):c.10784C>T (p.Thr3595Met)
|
rs886043929
|
0.00001
|
NM_001369.3(DNAH5):c.10825C>T (p.Gln3609Ter)
|
rs749980719
|
0.00001
|
NM_001369.3(DNAH5):c.10833G>A (p.Lys3611=)
|
rs1466415649
|
0.00001
|
NM_001369.3(DNAH5):c.10836C>T (p.Ile3612=)
|
rs1750509024
|
0.00001
|
NM_001369.3(DNAH5):c.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.10910del (p.Leu3637fs)
|
rs769691189
|
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.11029-2A>T
|
rs369312501
|
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.11377G>A (p.Glu3793Lys)
|
rs751996726
|
0.00001
|
NM_001369.3(DNAH5):c.11385G>A (p.Val3795=)
|
rs921373580
|
0.00001
|
NM_001369.3(DNAH5):c.113A>G (p.Asn38Ser)
|
rs1163468590
|
0.00001
|
NM_001369.3(DNAH5):c.11401A>G (p.Ile3801Val)
|
rs750831635
|
0.00001
|
NM_001369.3(DNAH5):c.11414C>A (p.Thr3805Lys)
|
rs1554027892
|
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.11506G>T (p.Val3836Phe)
|
rs201068342
|
0.00001
|
NM_001369.3(DNAH5):c.11519A>G (p.Tyr3840Cys)
|
rs761555252
|
0.00001
|
NM_001369.3(DNAH5):c.11529G>A (p.Ser3843=)
|
rs1024441903
|
0.00001
|
NM_001369.3(DNAH5):c.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.11653C>T (p.Arg3885Ter)
|
rs756032160
|
0.00001
|
NM_001369.3(DNAH5):c.1165A>G (p.Thr389Ala)
|
rs1305527957
|
0.00001
|
NM_001369.3(DNAH5):c.11664C>T (p.Tyr3888=)
|
rs754874486
|
0.00001
|
NM_001369.3(DNAH5):c.1167C>T (p.Thr389=)
|
rs747749204
|
0.00001
|
NM_001369.3(DNAH5):c.11694G>T (p.Leu3898Phe)
|
rs200798994
|
0.00001
|
NM_001369.3(DNAH5):c.116A>G (p.Tyr39Cys)
|
rs1469239990
|
0.00001
|
NM_001369.3(DNAH5):c.11755A>T (p.Ile3919Phe)
|
rs1268213717
|
0.00001
|
NM_001369.3(DNAH5):c.11869G>A (p.Asp3957Asn)
|
rs749548708
|
0.00001
|
NM_001369.3(DNAH5):c.11883G>A (p.Gln3961=)
|
rs1470925950
|
0.00001
|
NM_001369.3(DNAH5):c.1197+9A>G
|
rs766378867
|
0.00001
|
NM_001369.3(DNAH5):c.1198-14T>C
|
rs376742406
|
0.00001
|
NM_001369.3(DNAH5):c.12033+4A>G
|
rs746256175
|
0.00001
|
NM_001369.3(DNAH5):c.12034-6T>C
|
rs369614763
|
0.00001
|
NM_001369.3(DNAH5):c.12034G>C (p.Ala4012Pro)
|
rs747828322
|
0.00001
|
NM_001369.3(DNAH5):c.12107G>A (p.Trp4036Ter)
|
rs760104757
|
0.00001
|
NM_001369.3(DNAH5):c.12109G>C (p.Glu4037Gln)
|
rs775060022
|
0.00001
|
NM_001369.3(DNAH5):c.12111G>A (p.Glu4037=)
|
rs771256143
|
0.00001
|
NM_001369.3(DNAH5):c.12114A>T (p.Glu4038Asp)
|
rs749640233
|
0.00001
|
NM_001369.3(DNAH5):c.12124C>T (p.Arg4042Trp)
|
rs768164911
|
0.00001
|
NM_001369.3(DNAH5):c.12128C>T (p.Thr4043Met)
|
rs529288295
|
0.00001
|
NM_001369.3(DNAH5):c.12250C>T (p.Arg4084Trp)
|
rs752895938
|
0.00001
|
NM_001369.3(DNAH5):c.12258C>G (p.Leu4086=)
|
rs746003819
|
0.00001
|
NM_001369.3(DNAH5):c.12265C>T (p.Gln4089Ter)
|
rs1060501456
|
0.00001
|
NM_001369.3(DNAH5):c.12285A>T (p.Gly4095=)
|
rs774115728
|
0.00001
|
NM_001369.3(DNAH5):c.12368A>G (p.His4123Arg)
|
rs1218242577
|
0.00001
|
NM_001369.3(DNAH5):c.12396C>T (p.Thr4132=)
|
rs776715085
|
0.00001
|
NM_001369.3(DNAH5):c.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.12437C>T (p.Ser4146Phe)
|
rs750170721
|
0.00001
|
NM_001369.3(DNAH5):c.12453C>T (p.Asn4151=)
|
rs764777394
|
0.00001
|
NM_001369.3(DNAH5):c.12574C>A (p.His4192Asn)
|
rs748199626
|
0.00001
|
NM_001369.3(DNAH5):c.12596G>A (p.Arg4199His)
|
rs375694023
|
0.00001
|
NM_001369.3(DNAH5):c.12615G>A (p.Gly4205=)
|
rs755597752
|
0.00001
|
NM_001369.3(DNAH5):c.12630C>T (p.Tyr4210=)
|
rs766099303
|
0.00001
|
NM_001369.3(DNAH5):c.12631G>A (p.Glu4211Lys)
|
rs762673561
|
0.00001
|
NM_001369.3(DNAH5):c.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.12772G>A (p.Asp4258Asn)
|
rs1354484933
|
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.12958G>A (p.Ala4320Thr)
|
rs377316131
|
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.13054C>T (p.Arg4352Trp)
|
rs530188302
|
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.13227C>A (p.Ser4409Arg)
|
rs139357559
|
0.00001
|
NM_001369.3(DNAH5):c.13263C>T (p.Thr4421=)
|
rs765849507
|
0.00001
|
NM_001369.3(DNAH5):c.13338+1G>C
|
rs1219958424
|
0.00001
|
NM_001369.3(DNAH5):c.13338+5G>A
|
rs374718437
|
0.00001
|
NM_001369.3(DNAH5):c.13339-4G>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.13426C>T (p.Arg4476Ter)
|
rs767716511
|
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.13540T>C (p.Cys4514Arg)
|
rs916403814
|
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.13626_13627insAAAA (p.Ala4543fs)
|
rs1741984828
|
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.13699A>G (p.Ile4567Val)
|
rs761546028
|
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.13736C>T (p.Pro4579Leu)
|
rs774527322
|
0.00001
|
NM_001369.3(DNAH5):c.13774C>T (p.Arg4592Ter)
|
rs758112779
|
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.1465A>G (p.Thr489Ala)
|
rs779916415
|
0.00001
|
NM_001369.3(DNAH5):c.1473G>A (p.Lys491=)
|
rs142684499
|
0.00001
|
NM_001369.3(DNAH5):c.1502T>C (p.Ile501Thr)
|
rs746819760
|
0.00001
|
NM_001369.3(DNAH5):c.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.1730G>C (p.Arg577Thr)
|
rs397515541
|
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.1828C>T (p.Gln610Ter)
|
rs121908853
|
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+1G>T
|
rs1774569455
|
0.00001
|
NM_001369.3(DNAH5):c.2052+7C>T
|
rs748368893
|
0.00001
|
NM_001369.3(DNAH5):c.2224C>T (p.Arg742Ter)
|
rs776686983
|
0.00001
|
NM_001369.3(DNAH5):c.2247C>T (p.Phe749=)
|
rs1774417172
|
0.00001
|
NM_001369.3(DNAH5):c.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.2417C>T (p.Thr806Ile)
|
rs766649400
|
0.00001
|
NM_001369.3(DNAH5):c.2481C>T (p.Arg827=)
|
rs777353326
|
0.00001
|
NM_001369.3(DNAH5):c.2488G>A (p.Ala830Thr)
|
rs372432790
|
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.252T>G (p.Tyr84Ter)
|
rs754982008
|
0.00001
|
NM_001369.3(DNAH5):c.2533C>T (p.Gln845Ter)
|
rs1060501458
|
0.00001
|
NM_001369.3(DNAH5):c.2556A>G (p.Glu852=)
|
rs1460367490
|
0.00001
|
NM_001369.3(DNAH5):c.257A>G (p.Asp86Gly)
|
rs147441805
|
0.00001
|
NM_001369.3(DNAH5):c.2706C>T (p.Ser902=)
|
rs778689338
|
0.00001
|
NM_001369.3(DNAH5):c.2744-1G>T
|
rs1772232595
|
0.00001
|
NM_001369.3(DNAH5):c.2744-8T>C
|
rs1324131566
|
0.00001
|
NM_001369.3(DNAH5):c.2745A>C (p.Ala915=)
|
rs750846850
|
0.00001
|
NM_001369.3(DNAH5):c.275C>T (p.Thr92Ile)
|
rs765566079
|
0.00001
|
NM_001369.3(DNAH5):c.277G>A (p.Gly93Arg)
|
rs1428534050
|
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.2983+1G>A
|
rs1772196982
|
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.3031C>T (p.Arg1011Trp)
|
rs928800148
|
0.00001
|
NM_001369.3(DNAH5):c.3040G>A (p.Val1014Ile)
|
rs778469881
|
0.00001
|
NM_001369.3(DNAH5):c.3043A>G (p.Thr1015Ala)
|
rs756780275
|
0.00001
|
NM_001369.3(DNAH5):c.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.3154A>C (p.Ser1052Arg)
|
rs367835771
|
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.3236T>C (p.Val1079Ala)
|
rs1771847921
|
0.00001
|
NM_001369.3(DNAH5):c.3263-5T>C
|
rs777699795
|
0.00001
|
NM_001369.3(DNAH5):c.3314A>G (p.Asn1105Ser)
|
rs371783309
|
0.00001
|
NM_001369.3(DNAH5):c.3357A>G (p.Leu1119=)
|
rs780565363
|
0.00001
|
NM_001369.3(DNAH5):c.3403del (p.Ile1135fs)
|
rs1199019362
|
0.00001
|
NM_001369.3(DNAH5):c.3417T>C (p.Asp1139=)
|
rs376330483
|
0.00001
|
NM_001369.3(DNAH5):c.3427C>T (p.Arg1143Cys)
|
rs775816222
|
0.00001
|
NM_001369.3(DNAH5):c.3459A>G (p.Glu1153=)
|
rs758346022
|
0.00001
|
NM_001369.3(DNAH5):c.3465C>T (p.Ala1155=)
|
rs765054817
|
0.00001
|
NM_001369.3(DNAH5):c.3474A>G (p.Thr1158=)
|
rs1770126679
|
0.00001
|
NM_001369.3(DNAH5):c.3484C>T (p.Gln1162Ter)
|
rs760081822
|
0.00001
|
NM_001369.3(DNAH5):c.348C>T (p.Thr116=)
|
rs775947029
|
0.00001
|
NM_001369.3(DNAH5):c.3529C>T (p.Gln1177Ter)
|
rs1050312639
|
0.00001
|
NM_001369.3(DNAH5):c.3560C>G (p.Pro1187Arg)
|
rs1415125422
|
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.3736C>T (p.Pro1246Ser)
|
rs1769992971
|
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.3792G>C (p.Arg1264Ser)
|
rs769589158
|
0.00001
|
NM_001369.3(DNAH5):c.3816T>C (p.Phe1272=)
|
rs1205757837
|
0.00001
|
NM_001369.3(DNAH5):c.3821T>C (p.Val1274Ala)
|
rs761168416
|
0.00001
|
NM_001369.3(DNAH5):c.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.40G>A (p.Val14Ile)
|
rs1015850611
|
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.4237C>T (p.Gln1413Ter)
|
rs752734772
|
0.00001
|
NM_001369.3(DNAH5):c.4269A>G (p.Ile1423Met)
|
rs779020258
|
0.00001
|
NM_001369.3(DNAH5):c.4293T>C (p.Asp1431=)
|
rs373649273
|
0.00001
|
NM_001369.3(DNAH5):c.4295T>C (p.Ile1432Thr)
|
rs753029826
|
0.00001
|
NM_001369.3(DNAH5):c.4314del (p.Asn1438fs)
|
rs765355281
|
0.00001
|
NM_001369.3(DNAH5):c.4329C>T (p.Asn1443=)
|
rs750736449
|
0.00001
|
NM_001369.3(DNAH5):c.4348C>T (p.Gln1450Ter)
|
rs771663107
|
0.00001
|
NM_001369.3(DNAH5):c.4355+20G>C
|
rs1769136200
|
0.00001
|
NM_001369.3(DNAH5):c.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.4524T>G (p.Asp1508Glu)
|
rs1268555395
|
0.00001
|
NM_001369.3(DNAH5):c.4539C>T (p.Ser1513=)
|
rs764718901
|
0.00001
|
NM_001369.3(DNAH5):c.4613C>T (p.Ala1538Val)
|
rs201165908
|
0.00001
|
NM_001369.3(DNAH5):c.4703G>A (p.Arg1568His)
|
rs200994058
|
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.4747G>A (p.Ala1583Thr)
|
rs374072143
|
0.00001
|
NM_001369.3(DNAH5):c.4787T>G (p.Leu1596Arg)
|
rs1242688686
|
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.5009A>G (p.His1670Arg)
|
rs970902714
|
0.00001
|
NM_001369.3(DNAH5):c.5036G>A (p.Cys1679Tyr)
|
rs1221785647
|
0.00001
|
NM_001369.3(DNAH5):c.5056G>A (p.Gly1686Arg)
|
rs1385680717
|
0.00001
|
NM_001369.3(DNAH5):c.5073C>T (p.His1691=)
|
rs1766711145
|
0.00001
|
NM_001369.3(DNAH5):c.5114+1G>C
|
rs878854457
|
0.00001
|
NM_001369.3(DNAH5):c.5146C>T (p.Arg1716Trp)
|
rs368644722
|
0.00001
|
NM_001369.3(DNAH5):c.5158G>A (p.Val1720Ile)
|
rs778341195
|
0.00001
|
NM_001369.3(DNAH5):c.5171C>T (p.Ala1724Val)
|
rs1354561021
|
0.00001
|
NM_001369.3(DNAH5):c.5177T>C (p.Leu1726Pro)
|
rs138890576
|
0.00001
|
NM_001369.3(DNAH5):c.5178A>G (p.Leu1726=)
|
rs765172494
|
0.00001
|
NM_001369.3(DNAH5):c.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.5476C>G (p.Pro1826Ala)
|
rs928564123
|
0.00001
|
NM_001369.3(DNAH5):c.5503C>T (p.Gln1835Ter)
|
rs761622153
|
0.00001
|
NM_001369.3(DNAH5):c.5518C>T (p.Arg1840Trp)
|
rs760640325
|
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.5557A>T (p.Lys1853Ter)
|
rs748618094
|
0.00001
|
NM_001369.3(DNAH5):c.5563A>G (p.Ile1855Val)
|
rs1259929811
|
0.00001
|
NM_001369.3(DNAH5):c.5565C>A (p.Ile1855=)
|
rs781725837
|
0.00001
|
NM_001369.3(DNAH5):c.5585C>T (p.Ala1862Val)
|
rs1256145306
|
0.00001
|
NM_001369.3(DNAH5):c.5603A>G (p.Asn1868Ser)
|
rs945907926
|
0.00001
|
NM_001369.3(DNAH5):c.560A>T (p.Glu187Val)
|
rs1214362304
|
0.00001
|
NM_001369.3(DNAH5):c.5616C>T (p.Asp1872=)
|
rs145129897
|
0.00001
|
NM_001369.3(DNAH5):c.5625G>A (p.Thr1875=)
|
rs1054334590
|
0.00001
|
NM_001369.3(DNAH5):c.5632C>G (p.Leu1878Val)
|
rs1561401862
|
0.00001
|
NM_001369.3(DNAH5):c.565C>G (p.Leu189Val)
|
rs1344395624
|
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.5705A>G (p.Asp1902Gly)
|
rs776748041
|
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.5762G>A (p.Arg1921Lys)
|
rs1331052558
|
0.00001
|
NM_001369.3(DNAH5):c.5802C>T (p.His1934=)
|
rs754458099
|
0.00001
|
NM_001369.3(DNAH5):c.5830A>C (p.Asn1944His)
|
rs906638785
|
0.00001
|
NM_001369.3(DNAH5):c.5849C>T (p.Thr1950Ile)
|
rs1060501465
|
0.00001
|
NM_001369.3(DNAH5):c.5883-1G>A
|
rs1195745037
|
0.00001
|
NM_001369.3(DNAH5):c.5883-6A>G
|
rs763588282
|
0.00001
|
NM_001369.3(DNAH5):c.5923G>C (p.Gly1975Arg)
|
rs752901859
|
0.00001
|
NM_001369.3(DNAH5):c.5955C>A (p.Gly1985=)
|
rs141369170
|
0.00001
|
NM_001369.3(DNAH5):c.5967C>G (p.Thr1989=)
|
rs1179920146
|
0.00001
|
NM_001369.3(DNAH5):c.5983C>T (p.Arg1995Ter)
|
rs773711154
|
0.00001
|
NM_001369.3(DNAH5):c.5992G>A (p.Gly1998Arg)
|
rs1298790222
|
0.00001
|
NM_001369.3(DNAH5):c.6000C>T (p.Tyr2000=)
|
rs773208371
|
0.00001
|
NM_001369.3(DNAH5):c.6003C>T (p.Val2001=)
|
rs372754085
|
0.00001
|
NM_001369.3(DNAH5):c.6004G>A (p.Val2002Met)
|
rs148279547
|
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.6304C>T (p.Arg2102Cys)
|
rs767019228
|
0.00001
|
NM_001369.3(DNAH5):c.6308C>A (p.Ser2103Ter)
|
rs769260126
|
0.00001
|
NM_001369.3(DNAH5):c.6335_6336insT (p.Gln2112fs)
|
rs779506456
|
0.00001
|
NM_001369.3(DNAH5):c.6366T>C (p.Cys2122=)
|
rs1580457865
|
0.00001
|
NM_001369.3(DNAH5):c.6408G>A (p.Thr2136=)
|
rs765298305
|
0.00001
|
NM_001369.3(DNAH5):c.6413A>G (p.Tyr2138Cys)
|
rs769252635
|
0.00001
|
NM_001369.3(DNAH5):c.6444+7C>T
|
rs1219427450
|
0.00001
|
NM_001369.3(DNAH5):c.6444G>A (p.Gln2148=)
|
rs769544175
|
0.00001
|
NM_001369.3(DNAH5):c.6445-9A>G
|
rs1762622144
|
0.00001
|
NM_001369.3(DNAH5):c.6465G>C (p.Leu2155=)
|
rs1436835343
|
0.00001
|
NM_001369.3(DNAH5):c.6498A>G (p.Gly2166=)
|
rs764201218
|
0.00001
|
NM_001369.3(DNAH5):c.6544A>G (p.Met2182Val)
|
rs778507942
|
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.6575A>G (p.Lys2192Arg)
|
rs1004296804
|
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.661G>A (p.Val221Met)
|
rs1085307485
|
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.6764G>A (p.Arg2255Gln)
|
rs1317585354
|
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.6902T>C (p.Met2301Thr)
|
rs778689094
|
0.00001
|
NM_001369.3(DNAH5):c.691C>T (p.Leu231=)
|
rs1424520916
|
0.00001
|
NM_001369.3(DNAH5):c.6932A>C (p.Asp2311Ala)
|
rs754787543
|
0.00001
|
NM_001369.3(DNAH5):c.6991G>C (p.Glu2331Gln)
|
rs1349321210
|
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.7096C>T (p.Arg2366Trp)
|
rs868151020
|
0.00001
|
NM_001369.3(DNAH5):c.7106T>C (p.Met2369Thr)
|
rs144867885
|
0.00001
|
NM_001369.3(DNAH5):c.7109C>T (p.Ala2370Val)
|
rs776056472
|
0.00001
|
NM_001369.3(DNAH5):c.710C>T (p.Pro237Leu)
|
rs757970855
|
0.00001
|
NM_001369.3(DNAH5):c.7113A>C (p.Pro2371=)
|
rs768157030
|
0.00001
|
NM_001369.3(DNAH5):c.7131C>T (p.Phe2377=)
|
rs562255121
|
0.00001
|
NM_001369.3(DNAH5):c.7151A>G (p.Asn2384Ser)
|
rs777962194
|
0.00001
|
NM_001369.3(DNAH5):c.7161T>C (p.Pro2387=)
|
rs781701462
|
0.00001
|
NM_001369.3(DNAH5):c.7182A>C (p.Gly2394=)
|
rs761385629
|
0.00001
|
NM_001369.3(DNAH5):c.7196G>A (p.Ser2399Asn)
|
rs550329660
|
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.7484C>T (p.Ala2495Val)
|
rs768364281
|
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.7511T>C (p.Leu2504Pro)
|
rs1344694038
|
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.7537A>T (p.Thr2513Ser)
|
rs376433526
|
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.7774C>T (p.Gln2592Ter)
|
rs200922851
|
0.00001
|
NM_001369.3(DNAH5):c.7831T>C (p.Cys2611Arg)
|
rs377481206
|
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.7888-2A>G
|
rs1230911299
|
0.00001
|
NM_001369.3(DNAH5):c.7888-5C>A
|
rs760613466
|
0.00001
|
NM_001369.3(DNAH5):c.7915C>T (p.Arg2639Ter)
|
rs375053470
|
0.00001
|
NM_001369.3(DNAH5):c.7924A>G (p.Thr2642Ala)
|
rs375094026
|
0.00001
|
NM_001369.3(DNAH5):c.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.8005G>T (p.Asp2669Tyr)
|
rs773280167
|
0.00001
|
NM_001369.3(DNAH5):c.8010+3A>G
|
rs748171209
|
0.00001
|
NM_001369.3(DNAH5):c.8016G>A (p.Thr2672=)
|
rs112594597
|
0.00001
|
NM_001369.3(DNAH5):c.8029C>T (p.Arg2677Ter)
|
rs775946081
|
0.00001
|
NM_001369.3(DNAH5):c.8030G>A (p.Arg2677Gln)
|
rs886043448
|
0.00001
|
NM_001369.3(DNAH5):c.8043A>G (p.Glu2681=)
|
rs1468245529
|
0.00001
|
NM_001369.3(DNAH5):c.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.8147T>C (p.Ile2716Thr)
|
rs746501395
|
0.00001
|
NM_001369.3(DNAH5):c.8314C>T (p.Arg2772Ter)
|
rs781469274
|
0.00001
|
NM_001369.3(DNAH5):c.8315G>A (p.Arg2772Gln)
|
rs755210201
|
0.00001
|
NM_001369.3(DNAH5):c.831A>G (p.Glu277=)
|
rs1481782747
|
0.00001
|
NM_001369.3(DNAH5):c.832del (p.Ala278fs)
|
rs727502977
|
0.00001
|
NM_001369.3(DNAH5):c.834G>A (p.Ala278=)
|
rs761192750
|
0.00001
|
NM_001369.3(DNAH5):c.8353C>T (p.Pro2785Ser)
|
rs1167219863
|
0.00001
|
NM_001369.3(DNAH5):c.8382A>G (p.Leu2794=)
|
rs371252551
|
0.00001
|
NM_001369.3(DNAH5):c.8383C>T (p.Arg2795Ter)
|
rs560398270
|
0.00001
|
NM_001369.3(DNAH5):c.8418C>T (p.Asn2806=)
|
rs769684045
|
0.00001
|
NM_001369.3(DNAH5):c.8440_8447del (p.Lys2813_Glu2814insTer)
|
rs755136231
|
0.00001
|
NM_001369.3(DNAH5):c.846G>A (p.Gly282=)
|
rs748702437
|
0.00001
|
NM_001369.3(DNAH5):c.8497C>T (p.Arg2833Cys)
|
rs766481283
|
0.00001
|
NM_001369.3(DNAH5):c.8498G>A (p.Arg2833His)
|
rs753130398
|
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.8564T>C (p.Phe2855Ser)
|
rs1181279694
|
0.00001
|
NM_001369.3(DNAH5):c.860T>A (p.Leu287Gln)
|
rs1177184350
|
0.00001
|
NM_001369.3(DNAH5):c.8647+9T>C
|
rs750094609
|
0.00001
|
NM_001369.3(DNAH5):c.8648-4A>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.8698A>G (p.Ile2900Val)
|
rs747438706
|
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.8777T>C (p.Met2926Thr)
|
rs372071561
|
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.8827C>T (p.Arg2943Cys)
|
rs758324905
|
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.8998C>T (p.Arg3000Ter)
|
rs769054713
|
0.00001
|
NM_001369.3(DNAH5):c.9001A>G (p.Thr3001Ala)
|
rs780283468
|
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.9229C>T (p.Arg3077Trp)
|
rs1426289211
|
0.00001
|
NM_001369.3(DNAH5):c.9266C>T (p.Ser3089Leu)
|
rs759831156
|
0.00001
|
NM_001369.3(DNAH5):c.9287G>A (p.Arg3096Gln)
|
rs1388732051
|
0.00001
|
NM_001369.3(DNAH5):c.9301A>C (p.Lys3101Gln)
|
rs371436275
|
0.00001
|
NM_001369.3(DNAH5):c.9317T>C (p.Ile3106Thr)
|
rs778312386
|
0.00001
|
NM_001369.3(DNAH5):c.9346C>T (p.Arg3116Ter)
|
rs1264701182
|
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.9427A>T (p.Lys3143Ter)
|
rs765325621
|
0.00001
|
NM_001369.3(DNAH5):c.942A>C (p.Ala314=)
|
rs769341512
|
0.00001
|
NM_001369.3(DNAH5):c.9477G>A (p.Lys3159=)
|
rs1300247439
|
0.00001
|
NM_001369.3(DNAH5):c.9502C>T (p.Arg3168Ter)
|
rs863224504
|
0.00001
|
NM_001369.3(DNAH5):c.950C>T (p.Ala317Val)
|
rs199691556
|
0.00001
|
NM_001369.3(DNAH5):c.9544A>C (p.Ile3182Leu)
|
rs951528702
|
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.958_959dup (p.Lys322fs)
|
rs752110126
|
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.9637del (p.Ala3213fs)
|
rs1305797678
|
0.00001
|
NM_001369.3(DNAH5):c.963G>T (p.Ser321=)
|
rs758493084
|
0.00001
|
NM_001369.3(DNAH5):c.9645G>A (p.Glu3215=)
|
rs1285452658
|
0.00001
|
NM_001369.3(DNAH5):c.9649G>A (p.Val3217Ile)
|
rs1753033779
|
0.00001
|
NM_001369.3(DNAH5):c.9678G>A (p.Ala3226=)
|
rs547729937
|
0.00001
|
NM_001369.3(DNAH5):c.9682del (p.Glu3228fs)
|
rs748168087
|
0.00001
|
NM_001369.3(DNAH5):c.9720+5G>A
|
rs763440781
|
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.9760A>C (p.Lys3254Gln)
|
rs765104542
|
0.00001
|
NM_001369.3(DNAH5):c.9823A>G (p.Lys3275Glu)
|
rs1172460177
|
0.00001
|
NM_001369.3(DNAH5):c.9825A>G (p.Lys3275=)
|
rs1580139912
|
0.00001
|
NM_001369.3(DNAH5):c.9891A>G (p.Ala3297=)
|
rs863224387
|
0.00001
|
NM_001369.3(DNAH5):c.9897+1G>C
|
rs914675446
|
0.00001
|
NM_001369.3(DNAH5):c.9897+9A>G
|
rs774932799
|
0.00001
|
NM_001369.3(DNAH5):c.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
|
NC_000005.10:g.(?_13691964)_(13944458_?)del
|
|
|
NC_000005.10:g.(?_13718872)_(13721255_?)del
|
|
|
NC_000005.10:g.(?_13765956)_(13769635_?)del
|
|
|
NC_000005.10:g.(?_13765966)_(13769625_?)del
|
|
|
NC_000005.10:g.(?_13768960)_(13794058_?)del
|
|
|
NC_000005.10:g.(?_13791974)_(13944458_?)dup
|
|
|
NC_000005.10:g.(?_13791974)_(13944517_?)dup
|
|
|
NC_000005.10:g.(?_13809024)_(13811843_?)del
|
|
|
NC_000005.10:g.(?_13824199)_(13830775_?)del
|
|
|
NC_000005.10:g.(?_13830078)_(13842859_?)del
|
|
|
NC_000005.10:g.(?_13864377)_(13868012_?)del
|
|
|
NC_000005.10:g.(?_13864387)_(13868002_?)del
|
|
|
NC_000005.10:g.(?_13876664)_(13914662_?)del
|
|
|
NC_000005.10:g.(?_13913723)_(13913978_?)del
|
|
|
NC_000005.10:g.13714619CT[1]
|
rs2126493943
|
|
NC_000005.10:g.13864487_13874687del
|
|
|
NC_000005.10:g.13886130del
|
|
|
NC_000005.9:g.(?_13692073)_(13692264_?)dup
|
|
|
NC_000005.9:g.(?_13692093)_(13754467_?)dup
|
|
|
NC_000005.9:g.(?_13716586)_(13721364_?)del
|
|
|
NC_000005.9:g.(?_13729538)_(13771099_?)dup
|
|
|
NC_000005.9:g.(?_13751177)_(13754457_?)del
|
|
|
NC_000005.9:g.(?_13753332)_(13754457_?)del
|
|
|
NC_000005.9:g.(?_13769059)_(13794177_?)del
|
|
|
NC_000005.9:g.(?_13780928)_(13781078_?)del
|
|
|
NC_000005.9:g.(?_13792093)_(13794177_?)del
|
|
|
NC_000005.9:g.(?_13809143)_(13810379_?)del
|
|
|
NC_000005.9:g.(?_13817647)_(13820618_?)del
|
|
|
NC_000005.9:g.(?_13823362)_(13944557_?)del
|
|
|
NC_000005.9:g.(?_13824302)_(13830890_?)del
|
|
|
NC_000005.9:g.(?_13840995)_(13841259_?)del
|
|
|
NC_000005.9:g.(?_13841005)_(13841249_?)del
|
|
|
NC_000005.9:g.(?_13844936)_(13845112_?)del
|
|
|
NC_000005.9:g.(?_13886063)_(13911612_?)dup
|
|
|
NC_000005.9:g.(?_13894749)_(13917375_?)del
|
|
|
NC_000005.9:g.(?_13899162)_(13901374_?)del
|
|
|
NC_000005.9:g.(?_13900305)_(13944557_?)del
|
|
|
NC_000005.9:g.(?_13917246)_(13919467_?)del
|
|
|
NC_000005.9:g.(?_13917269)_(13919732_?)del
|
|
|
NC_000005.9:g.(?_13922434)_(13923774_?)del
|
|
|
NC_000005.9:g.(?_13922434)_13923774del
|
|
|
NC_000005.9:g.(?_13922436)_13923774del
|
|
|
NC_000005.9:g.(?_13923379)_(13923559_?)del
|
|
|
NC_000005.9:g.(?_13931199)_(13931373_?)del
|
|
|
NC_000005.9:g.(?_13931209)_(13931363_?)del
|
|
|
NM_001369.2(DNAH5):c.(?_-1)_(*1_?)del
|
|
|
NM_001369.2(DNAH5):c.278-?_438+?del
|
|
|
NM_001369.2(DNAH5):c.6273_6274delinsA (p.Glu2092fs)
|
rs1060501457
|
|
NM_001369.2(DNAH5):c.9609_9612delGAAT
|
rs1580143916
|
|
NM_001369.3(DNAH5):c.10002C>T (p.Val3334=)
|
rs2126762263
|
|
NM_001369.3(DNAH5):c.10022T>C (p.Leu3341Pro)
|
|
|
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.10051C>T (p.Gln3351Ter)
|
rs770720791
|
|
NM_001369.3(DNAH5):c.10059del (p.Ser3353_Leu3354insTer)
|
|
|
NM_001369.3(DNAH5):c.10076C>T (p.Ala3359Val)
|
rs1752464443
|
|
NM_001369.3(DNAH5):c.10077A>G (p.Ala3359=)
|
|
|
NM_001369.3(DNAH5):c.10077A>T (p.Ala3359=)
|
|
|
NM_001369.3(DNAH5):c.10080del (p.Asn3361fs)
|
|
|
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.10113dup (p.Asp3372fs)
|
|
|
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.10138G>T (p.Glu3380Ter)
|
|
|
NM_001369.3(DNAH5):c.1013C>G (p.Thr338Ser)
|
rs1390111024
|
|
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.10193G>A (p.Arg3398His)
|
|
|
NM_001369.3(DNAH5):c.10196T>C (p.Val3399Ala)
|
|
|
NM_001369.3(DNAH5):c.10196dup (p.Cys3400fs)
|
rs1751967064
|
|
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.10219_10233del (p.Cys3407_Lys3411del)
|
rs1751962280
|
|
NM_001369.3(DNAH5):c.10222del (p.Ser3408fs)
|
|
|
NM_001369.3(DNAH5):c.10224C>T (p.Ser3408=)
|
rs1751963683
|
|
NM_001369.3(DNAH5):c.10229C>T (p.Thr3410Met)
|
|
|
NM_001369.3(DNAH5):c.1022C>T (p.Ala341Val)
|
rs1776738425
|
|
NM_001369.3(DNAH5):c.10240G>T (p.Ala3414Ser)
|
|
|
NM_001369.3(DNAH5):c.10254T>C (p.Ser3418=)
|
rs1282684944
|
|
NM_001369.3(DNAH5):c.10254_10255insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGCTTCCTTCTTTTCT (p.Ser3418_Ile3419insPhePhePhePhePhePheXaaXaaXaaXaaThrHisArgTrpGluLeuAsnAsnGluIleThrTrpThrGlnGluGlyGluTyrHisThrLeuGlyThrValAlaSerPhePheSer)
|
|
|
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.10280del (p.Lys3427fs)
|
rs2126745441
|
|
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.10286A>G (p.Asn3429Ser)
|
rs1580095416
|
|
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.10348G>T (p.Glu3450Ter)
|
rs758739748
|
|
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.10377del (p.Asp3459fs)
|
rs2126727754
|
|
NM_001369.3(DNAH5):c.10381G>A (p.Val3461Met)
|
|
|
NM_001369.3(DNAH5):c.10382T>C (p.Val3461Ala)
|
|
|
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.10399C>T (p.Gln3467Ter)
|
|
|
NM_001369.3(DNAH5):c.10399_10400del (p.Gln3467fs)
|
|
|
NM_001369.3(DNAH5):c.10405A>G (p.Met3469Val)
|
|
|
NM_001369.3(DNAH5):c.10415A>G (p.Lys3472Arg)
|
rs1057517890
|
|
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.10420-1G>A
|
|
|
NM_001369.3(DNAH5):c.10420-2A>G
|
|
|
NM_001369.3(DNAH5):c.10420-3T>C
|
rs1172050367
|
|
NM_001369.3(DNAH5):c.10420-5G>A
|
rs754497052
|
|
NM_001369.3(DNAH5):c.10420-6del
|
|
|
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.10436C>A (p.Ala3479Glu)
|
|
|
NM_001369.3(DNAH5):c.10437A>T (p.Ala3479=)
|
rs139881808
|
|
NM_001369.3(DNAH5):c.10440G>A (p.Glu3480=)
|
rs1485742988
|
|
NM_001369.3(DNAH5):c.10442G>A (p.Arg3481Gln)
|
rs202169624
|
|
NM_001369.3(DNAH5):c.10443A>T (p.Arg3481=)
|
rs1554035381
|
|
NM_001369.3(DNAH5):c.1044G>A (p.Leu348=)
|
rs2151986750
|
|
NM_001369.3(DNAH5):c.10452C>T (p.His3484=)
|
|
|
NM_001369.3(DNAH5):c.10452_10464del (p.His3484fs)
|
rs1580072662
|
|
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.1047T>A (p.Tyr349Ter)
|
|
|
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.104C>T (p.Ala35Val)
|
|
|
NM_001369.3(DNAH5):c.10504del (p.Arg3502fs)
|
rs1554035330
|
|
NM_001369.3(DNAH5):c.10508G>A (p.Trp3503Ter)
|
rs777987305
|
|
NM_001369.3(DNAH5):c.1050A>G (p.Thr350=)
|
|
|
NM_001369.3(DNAH5):c.1050A>T (p.Thr350=)
|
rs2151986716
|
|
NM_001369.3(DNAH5):c.10515G>A (p.Glu3505=)
|
|
|
NM_001369.3(DNAH5):c.10522C>T (p.Gln3508Ter)
|
rs1750671525
|
|
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.10555G>C (p.Gly3519Arg)
|
rs79967166
|
|
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.10556-1G>A
|
|
|
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.10558G>T (p.Asp3520Tyr)
|
rs766829989
|
|
NM_001369.3(DNAH5):c.10559A>T (p.Asp3520Val)
|
|
|
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.10565T>G (p.Leu3522Arg)
|
|
|
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.10604_10608dup (p.Glu3537fs)
|
rs1380450190
|
|
NM_001369.3(DNAH5):c.10616G>C (p.Arg3539Pro)
|
|
|
NM_001369.3(DNAH5):c.10619A>C (p.Asp3540Ala)
|
rs1580068395
|
|
NM_001369.3(DNAH5):c.10626G>A (p.Leu3542=)
|
rs1376078058
|
|
NM_001369.3(DNAH5):c.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.10681C>G (p.Leu3561Val)
|
|
|
NM_001369.3(DNAH5):c.10690A>C (p.Ser3564Arg)
|
rs2126701456
|
|
NM_001369.3(DNAH5):c.10703T>C (p.Ile3568Thr)
|
|
|
NM_001369.3(DNAH5):c.10706A>G (p.Asp3569Gly)
|
|
|
NM_001369.3(DNAH5):c.10707T>C (p.Asp3569=)
|
rs2126701355
|
|
NM_001369.3(DNAH5):c.10710T>A (p.Ala3570=)
|
|
|
NM_001369.3(DNAH5):c.10712CTA[1] (p.Thr3572del)
|
rs773869600
|
|
NM_001369.3(DNAH5):c.10713T>C (p.Pro3571=)
|
|
|
NM_001369.3(DNAH5):c.10719del (p.Ser3574fs)
|
rs765980788
|
|
NM_001369.3(DNAH5):c.10735C>T (p.Gln3579Ter)
|
|
|
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.10784C>A (p.Thr3595Lys)
|
|
|
NM_001369.3(DNAH5):c.10785G>C (p.Thr3595=)
|
rs144055129
|
|
NM_001369.3(DNAH5):c.10789G>C (p.Ala3597Pro)
|
rs368959723
|
|
NM_001369.3(DNAH5):c.10800C>T (p.Tyr3600=)
|
rs756610363
|
|
NM_001369.3(DNAH5):c.10806G>A (p.Leu3602=)
|
rs751153837
|
|
NM_001369.3(DNAH5):c.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.10839G>C (p.Trp3613Cys)
|
rs1750508726
|
|
NM_001369.3(DNAH5):c.10848T>C (p.Asn3616=)
|
rs371211976
|
|
NM_001369.3(DNAH5):c.10852G>A (p.Glu3618Lys)
|
|
|
NM_001369.3(DNAH5):c.10853_10856del (p.Glu3618fs)
|
rs1353723750
|
|
NM_001369.3(DNAH5):c.10858C>A (p.Arg3620=)
|
rs1283070426
|
|
NM_001369.3(DNAH5):c.10858C>T (p.Arg3620Ter)
|
rs1283070426
|
|
NM_001369.3(DNAH5):c.10859G>A (p.Arg3620Gln)
|
|
|
NM_001369.3(DNAH5):c.10859G>T (p.Arg3620Leu)
|
rs547014532
|
|
NM_001369.3(DNAH5):c.10870C>T (p.Gln3624Ter)
|
|
|
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+1G>A
|
rs2126700213
|
|
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.10886A>C (p.Asn3629Thr)
|
rs2126695378
|
|
NM_001369.3(DNAH5):c.10888C>T (p.His3630Tyr)
|
rs1750346300
|
|
NM_001369.3(DNAH5):c.1089+10G>A
|
rs2151986613
|
|
NM_001369.3(DNAH5):c.1089+13T>C
|
|
|
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.1089C>T (p.Pro363=)
|
|
|
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.1090-2A>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.10900A>T (p.Arg3634Ter)
|
|
|
NM_001369.3(DNAH5):c.10926T>C (p.Ser3642=)
|
|
|
NM_001369.3(DNAH5):c.1092A>C (p.Leu364=)
|
|
|
NM_001369.3(DNAH5):c.10930G>T (p.Gly3644Ter)
|
rs1750339039
|
|
NM_001369.3(DNAH5):c.10937C>A (p.Pro3646His)
|
|
|
NM_001369.3(DNAH5):c.10938T>G (p.Pro3646=)
|
|
|
NM_001369.3(DNAH5):c.10948G>A (p.Glu3650Lys)
|
|
|
NM_001369.3(DNAH5):c.10950A>G (p.Glu3650=)
|
rs1750335994
|
|
NM_001369.3(DNAH5):c.10952del (p.Asp3651fs)
|
|
|
NM_001369.3(DNAH5):c.10954G>A (p.Val3652Ile)
|
|
|
NM_001369.3(DNAH5):c.10963G>T (p.Glu3655Ter)
|
|
|
NM_001369.3(DNAH5):c.10973C>T (p.Pro3658Leu)
|
|
|
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.10996A>T (p.Arg3666Ter)
|
|
|
NM_001369.3(DNAH5):c.10998A>G (p.Arg3666=)
|
|
|
NM_001369.3(DNAH5):c.11015G>A (p.Gly3672Glu)
|
|
|
NM_001369.3(DNAH5):c.11016G>T (p.Gly3672=)
|
rs1580060938
|
|
NM_001369.3(DNAH5):c.11026A>T (p.Lys3676Ter)
|
rs1750322897
|
|
NM_001369.3(DNAH5):c.11028+11C>A
|
|
|
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+1G>C
|
rs2126694391
|
|
NM_001369.3(DNAH5):c.11028+1del
|
|
|
NM_001369.3(DNAH5):c.11028+2T>C
|
rs773447251
|
|
NM_001369.3(DNAH5):c.11028+8A>T
|
|
|
NM_001369.3(DNAH5):c.11029-10T>C
|
|
|
NM_001369.3(DNAH5):c.11029-10dup
|
|
|
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.11047_11050del (p.Lys3682_Glu3683insTer)
|
rs1750178563
|
|
NM_001369.3(DNAH5):c.11056G>A (p.Val3686Met)
|
|
|
NM_001369.3(DNAH5):c.11057T>A (p.Val3686Glu)
|
rs1750176019
|
|
NM_001369.3(DNAH5):c.11057T>C (p.Val3686Ala)
|
rs1750176019
|
|
NM_001369.3(DNAH5):c.11058G>C (p.Val3686=)
|
|
|
NM_001369.3(DNAH5):c.11058G>T (p.Val3686=)
|
rs1372654063
|
|
NM_001369.3(DNAH5):c.1105G>A (p.Ala369Thr)
|
|
|
NM_001369.3(DNAH5):c.11063A>G (p.Asp3688Gly)
|
rs878854454
|
|
NM_001369.3(DNAH5):c.11064T>C (p.Asp3688=)
|
|
|
NM_001369.3(DNAH5):c.11070T>C (p.Phe3690=)
|
rs2126689884
|
|
NM_001369.3(DNAH5):c.11070del (p.Phe3690fs)
|
rs1750171365
|
|
NM_001369.3(DNAH5):c.11071A>C (p.Arg3691=)
|
|
|
NM_001369.3(DNAH5):c.11072G>C (p.Arg3691Thr)
|
|
|
NM_001369.3(DNAH5):c.11073A>G (p.Arg3691=)
|
rs2126689848
|
|
NM_001369.3(DNAH5):c.11078A>G (p.Tyr3693Cys)
|
|
|
NM_001369.3(DNAH5):c.11079C>T (p.Tyr3693=)
|
rs2126689772
|
|
NM_001369.3(DNAH5):c.11087C>T (p.Thr3696Ile)
|
|
|
NM_001369.3(DNAH5):c.11088C>G (p.Thr3696=)
|
rs754892386
|
|
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.11114del (p.Pro3705fs)
|
|
|
NM_001369.3(DNAH5):c.11127C>T (p.Ala3709=)
|
|
|
NM_001369.3(DNAH5):c.11127_11128del (p.Arg3710fs)
|
rs768492048
|
|
NM_001369.3(DNAH5):c.11128C>T (p.Arg3710Cys)
|
|
|
NM_001369.3(DNAH5):c.11129G>A (p.Arg3710His)
|
|
|
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.11167C>G (p.Leu3723Val)
|
rs2126689104
|
|
NM_001369.3(DNAH5):c.11168T>A (p.Leu3723Gln)
|
rs1554033862
|
|
NM_001369.3(DNAH5):c.11169A>G (p.Leu3723=)
|
|
|
NM_001369.3(DNAH5):c.11189G>C (p.Arg3730Thr)
|
|
|
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.11211+1G>A
|
rs1554033855
|
|
NM_001369.3(DNAH5):c.11211+2T>C
|
|
|
NM_001369.3(DNAH5):c.1122A>T (p.Ile374=)
|
|
|
NM_001369.3(DNAH5):c.11379G>A (p.Glu3793=)
|
|
|
NM_001369.3(DNAH5):c.11386A>T (p.Thr3796Ser)
|
|
|
NM_001369.3(DNAH5):c.11389C>T (p.Gln3797Ter)
|
|
|
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.11416_11417del (p.Glu3806fs)
|
rs2126619946
|
|
NM_001369.3(DNAH5):c.11418A>C (p.Glu3806Asp)
|
|
|
NM_001369.3(DNAH5):c.11419G>C (p.Val3807Leu)
|
|
|
NM_001369.3(DNAH5):c.1141_1147delinsACAGAGATGTGATCTTCTCAGAGGTATTATAGTAATGAGAGATACT (p.Tyr381_Ile383delinsThrGluMetTer)
|
|
|
NM_001369.3(DNAH5):c.11421del (p.Gln3808fs)
|
rs2126619895
|
|
NM_001369.3(DNAH5):c.11425dup (p.Ile3809fs)
|
|
|
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.1144_1145insT (p.Ser382fs)
|
|
|
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.11455+1G>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.11459del (p.Ala3820fs)
|
|
|
NM_001369.3(DNAH5):c.1145G>A (p.Ser382Asn)
|
|
|
NM_001369.3(DNAH5):c.11462C>G (p.Thr3821Arg)
|
rs374858945
|
|
NM_001369.3(DNAH5):c.11462C>T (p.Thr3821Met)
|
|
|
NM_001369.3(DNAH5):c.11464C>T (p.Arg3822Trp)
|
|
|
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.11500C>T (p.Arg3834Cys)
|
rs1579972564
|
|
NM_001369.3(DNAH5):c.11500_11512del (p.Leu3835fs)
|
rs2126610936
|
|
NM_001369.3(DNAH5):c.11501G>A (p.Arg3834His)
|
|
|
NM_001369.3(DNAH5):c.11526T>A (p.Thr3842=)
|
|
|
NM_001369.3(DNAH5):c.11534G>A (p.Arg3845His)
|
|
|
NM_001369.3(DNAH5):c.11534G>T (p.Arg3845Leu)
|
|
|
NM_001369.3(DNAH5):c.11536C>T (p.Gln3846Ter)
|
rs1443845070
|
|
NM_001369.3(DNAH5):c.11547C>A (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+2T>C
|
rs2126610509
|
|
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.11571-1G>A
|
rs1481337703
|
|
NM_001369.3(DNAH5):c.11571-20T>G
|
|
|
NM_001369.3(DNAH5):c.11574T>C (p.Ser3858=)
|
rs188088000
|
|
NM_001369.3(DNAH5):c.11585C>G (p.Pro3862Arg)
|
rs763954304
|
|
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.11609del (p.Asn3870fs)
|
|
|
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.11632G>A (p.Glu3878Lys)
|
|
|
NM_001369.3(DNAH5):c.11634G>A (p.Glu3878=)
|
rs2126607339
|
|
NM_001369.3(DNAH5):c.11638del (p.Tyr3880fs)
|
|
|
NM_001369.3(DNAH5):c.11658G>T (p.Gly3886=)
|
|
|
NM_001369.3(DNAH5):c.11658_11668del (p.Leu3887fs)
|
rs2126607061
|
|
NM_001369.3(DNAH5):c.11661G>A (p.Leu3887=)
|
|
|
NM_001369.3(DNAH5):c.11670G>A (p.Glu3890=)
|
|
|
NM_001369.3(DNAH5):c.11676_11680dup (p.Leu3894fs)
|
|
|
NM_001369.3(DNAH5):c.1167_1168insGTGA (p.Ser390fs)
|
|
|
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.1171G>A (p.Glu391Lys)
|
|
|
NM_001369.3(DNAH5):c.11725C>T (p.Arg3909Ter)
|
rs1060501464
|
|
NM_001369.3(DNAH5):c.11726G>A (p.Arg3909Gln)
|
rs761043906
|
|
NM_001369.3(DNAH5):c.11739A>C (p.Glu3913Asp)
|
|
|
NM_001369.3(DNAH5):c.11739A>G (p.Glu3913=)
|
rs748787177
|
|
NM_001369.3(DNAH5):c.11753T>C (p.Leu3918Pro)
|
rs2126606502
|
|
NM_001369.3(DNAH5):c.11761+2T>A
|
rs2126606448
|
|
NM_001369.3(DNAH5):c.11761G>C (p.Gly3921Arg)
|
rs2126606457
|
|
NM_001369.3(DNAH5):c.11762-17A>C
|
|
|
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.11794C>A (p.Pro3932Thr)
|
rs1746210228
|
|
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.11804C>A (p.Ser3935Ter)
|
rs1579942510
|
|
NM_001369.3(DNAH5):c.11805A>G (p.Ser3935=)
|
rs1746208138
|
|
NM_001369.3(DNAH5):c.11810G>A (p.Trp3937Ter)
|
|
|
NM_001369.3(DNAH5):c.11815C>T (p.Leu3939=)
|
rs764968328
|
|
NM_001369.3(DNAH5):c.11820C>T (p.Asp3940=)
|
|
|
NM_001369.3(DNAH5):c.11820_11821insTTAT (p.Ile3941fs)
|
|
|
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.11853del (p.Lys3951fs)
|
rs1579942226
|
|
NM_001369.3(DNAH5):c.11857dup (p.Arg3953fs)
|
|
|
NM_001369.3(DNAH5):c.11859A>G (p.Arg3953=)
|
|
|
NM_001369.3(DNAH5):c.11870A>G (p.Asp3957Gly)
|
|
|
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.11884-1G>C
|
|
|
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.11895_11901del (p.Asn3965fs)
|
rs1745933925
|
|
NM_001369.3(DNAH5):c.11898G>A (p.Glu3966=)
|
rs2126564900
|
|
NM_001369.3(DNAH5):c.11907G>A (p.Trp3969Ter)
|
rs1561122898
|
|
NM_001369.3(DNAH5):c.11913T>C (p.Ile3971=)
|
|
|
NM_001369.3(DNAH5):c.11913T>G (p.Ile3971Met)
|
|
|
NM_001369.3(DNAH5):c.11922T>C (p.Asp3974=)
|
|
|
NM_001369.3(DNAH5):c.11923A>T (p.Lys3975Ter)
|
|
|
NM_001369.3(DNAH5):c.11925G>A (p.Lys3975=)
|
rs2126564748
|
|
NM_001369.3(DNAH5):c.11931C>T (p.Asn3977=)
|
|
|
NM_001369.3(DNAH5):c.11932C>T (p.Pro3978Ser)
|
|
|
NM_001369.3(DNAH5):c.11935dup (p.Glu3979fs)
|
rs2126564662
|
|
NM_001369.3(DNAH5):c.11938G>A (p.Glu3980Lys)
|
rs1221618846
|
|
NM_001369.3(DNAH5):c.11941G>T (p.Glu3981Ter)
|
rs1745928643
|
|
NM_001369.3(DNAH5):c.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.11970del (p.Asp3992fs)
|
|
|
NM_001369.3(DNAH5):c.1198-13T>G
|
|
|
NM_001369.3(DNAH5):c.1198-16T>C
|
|
|
NM_001369.3(DNAH5):c.1198-1G>A
|
|
|
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.12004T>A (p.Ser4002Thr)
|
|
|
NM_001369.3(DNAH5):c.12009G>A (p.Trp4003Ter)
|
rs2126564103
|
|
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.12031dup (p.Gln4011fs)
|
|
|
NM_001369.3(DNAH5):c.12033+12A>G
|
|
|
NM_001369.3(DNAH5):c.12033+14A>G
|
|
|
NM_001369.3(DNAH5):c.12033+1G>A
|
rs2126563913
|
|
NM_001369.3(DNAH5):c.12033+20G>A
|
|
|
NM_001369.3(DNAH5):c.12033+7A>C
|
rs77541151
|
|
NM_001369.3(DNAH5):c.12033+7A>G
|
rs77541151
|
|
NM_001369.3(DNAH5):c.12033+7del
|
|
|
NM_001369.3(DNAH5):c.12034-10T>A
|
|
|
NM_001369.3(DNAH5):c.12034-10dup
|
rs1179640167
|
|
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.12034-6del
|
|
|
NM_001369.3(DNAH5):c.12037C>T (p.Arg4013Cys)
|
|
|
NM_001369.3(DNAH5):c.12038G>A (p.Arg4013His)
|
|
|
NM_001369.3(DNAH5):c.1203A>C (p.Thr401=)
|
rs2151982352
|
|
NM_001369.3(DNAH5):c.12044A>C (p.Tyr4015Ser)
|
rs1060501463
|
|
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.1206T>G (p.Asn402Lys)
|
|
|
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.12109G>T (p.Glu4037Ter)
|
|
|
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.1216T>G (p.Ser406Ala)
|
rs1776422779
|
|
NM_001369.3(DNAH5):c.12172T>C (p.Ser4058Pro)
|
|
|
NM_001369.3(DNAH5):c.12179T>C (p.Ile4060Thr)
|
|
|
NM_001369.3(DNAH5):c.1217C>A (p.Ser406Tyr)
|
|
|
NM_001369.3(DNAH5):c.12197T>C (p.Leu4066Ser)
|
|
|
NM_001369.3(DNAH5):c.12198_12203delinsCAAAAAAA (p.Leu4066fs)
|
|
|
NM_001369.3(DNAH5):c.121T>C (p.Phe41Leu)
|
|
|
NM_001369.3(DNAH5):c.12201A>G (p.Lys4067=)
|
|
|
NM_001369.3(DNAH5):c.12205G>T (p.Glu4069Ter)
|
|
|
NM_001369.3(DNAH5):c.12206A>T (p.Glu4069Val)
|
|
|
NM_001369.3(DNAH5):c.12212G>A (p.Arg4071His)
|
|
|
NM_001369.3(DNAH5):c.12212_12213insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAATAGAAACCCG (p.Arg4071_Tyr4072insProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerGlyXaaXaaXaaLysLysLysLysLysLysLysLysIleGluThrArg)
|
|
|
NM_001369.3(DNAH5):c.12216T>C (p.Tyr4072=)
|
|
|
NM_001369.3(DNAH5):c.12220del (p.Ser4074fs)
|
|
|
NM_001369.3(DNAH5):c.12223A>G (p.Met4075Val)
|
|
|
NM_001369.3(DNAH5):c.12224del (p.Met4075fs)
|
rs1744987309
|
|
NM_001369.3(DNAH5):c.12225G>C (p.Met4075Ile)
|
|
|
NM_001369.3(DNAH5):c.12238G>T (p.Glu4080Ter)
|
rs142761474
|
|
NM_001369.3(DNAH5):c.12248C>A (p.Ala4083Asp)
|
rs1201132518
|
|
NM_001369.3(DNAH5):c.12249T>C (p.Ala4083=)
|
rs1744982412
|
|
NM_001369.3(DNAH5):c.12255G>A (p.Lys4085=)
|
|
|
NM_001369.3(DNAH5):c.12262C>A (p.Gln4088Lys)
|
|
|
NM_001369.3(DNAH5):c.12262C>T (p.Gln4088Ter)
|
|
|
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+1G>A
|
|
|
NM_001369.3(DNAH5):c.12279+6G>C
|
rs762179184
|
|
NM_001369.3(DNAH5):c.12279+9G>A
|
|
|
NM_001369.3(DNAH5):c.12279+9G>T
|
|
|
NM_001369.3(DNAH5):c.12280-18G>A
|
|
|
NM_001369.3(DNAH5):c.12280-19C>T
|
|
|
NM_001369.3(DNAH5):c.12280-1G>A
|
|
|
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.12287G>A (p.Trp4096Ter)
|
rs1744699899
|
|
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.12326T>C (p.Met4109Thr)
|
rs1744695650
|
|
NM_001369.3(DNAH5):c.1232A>G (p.Tyr411Cys)
|
|
|
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.1234A>G (p.Ile412Val)
|
rs1580867247
|
|
NM_001369.3(DNAH5):c.12355A>G (p.Thr4119Ala)
|
|
|
NM_001369.3(DNAH5):c.12373G>C (p.Ala4125Pro)
|
rs757737381
|
|
NM_001369.3(DNAH5):c.12375G>C (p.Ala4125=)
|
rs140284455
|
|
NM_001369.3(DNAH5):c.12378C>T (p.Phe4126=)
|
rs760658244
|
|
NM_001369.3(DNAH5):c.12379C>A (p.Arg4127Ser)
|
rs148696723
|
|
NM_001369.3(DNAH5):c.12379C>T (p.Arg4127Cys)
|
rs148696723
|
|
NM_001369.3(DNAH5):c.12381C>T (p.Arg4127=)
|
|
|
NM_001369.3(DNAH5):c.12384C>T (p.Leu4128=)
|
rs772828833
|
|
NM_001369.3(DNAH5):c.12391dup (p.Thr4131fs)
|
|
|
NM_001369.3(DNAH5):c.12396C>G (p.Thr4132=)
|
|
|
NM_001369.3(DNAH5):c.12397G>A (p.Glu4133Lys)
|
|
|
NM_001369.3(DNAH5):c.12397G>T (p.Glu4133Ter)
|
rs376372961
|
|
NM_001369.3(DNAH5):c.12401_12402delinsTC (p.Ala4134Val)
|
|
|
NM_001369.3(DNAH5):c.12402T>G (p.Ala4134=)
|
rs1327666188
|
|
NM_001369.3(DNAH5):c.12404A>G (p.His4135Arg)
|
|
|
NM_001369.3(DNAH5):c.12406A>G (p.Lys4136Glu)
|
|
|
NM_001369.3(DNAH5):c.12409C>T (p.Gln4137Ter)
|
|
|
NM_001369.3(DNAH5):c.12414T>A (p.Phe4138Leu)
|
|
|
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.1246G>A (p.Gly416Arg)
|
|
|
NM_001369.3(DNAH5):c.12492A>G (p.Thr4164=)
|
rs141935657
|
|
NM_001369.3(DNAH5):c.12495T>A (p.Tyr4165Ter)
|
rs373536906
|
|
NM_001369.3(DNAH5):c.12495T>C (p.Tyr4165=)
|
|
|
NM_001369.3(DNAH5):c.12495T>G (p.Tyr4165Ter)
|
rs373536906
|
|
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+1G>A
|
rs1579894454
|
|
NM_001369.3(DNAH5):c.12499+20C>T
|
|
|
NM_001369.3(DNAH5):c.12499+2T>G
|
rs1484826593
|
|
NM_001369.3(DNAH5):c.12499+7C>A
|
rs2126517434
|
|
NM_001369.3(DNAH5):c.12499+8C>T
|
|
|
NM_001369.3(DNAH5):c.12500-14A>G
|
rs2126510171
|
|
NM_001369.3(DNAH5):c.12500-19A>G
|
|
|
NM_001369.3(DNAH5):c.12500-1G>A
|
rs1744470051
|
|
NM_001369.3(DNAH5):c.12500-20C>T
|
|
|
NM_001369.3(DNAH5):c.12500-2A>G
|
|
|
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.12510del (p.Asp4171fs)
|
|
|
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.12521A>G (p.Asp4174Gly)
|
rs1554020311
|
|
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.12557A>G (p.Tyr4186Cys)
|
rs368413636
|
|
NM_001369.3(DNAH5):c.12559G>A (p.Ala4187Thr)
|
|
|
NM_001369.3(DNAH5):c.1255del (p.Ser419fs)
|
|
|
NM_001369.3(DNAH5):c.12561A>C (p.Ala4187=)
|
|
|
NM_001369.3(DNAH5):c.12561A>T (p.Ala4187=)
|
|
|
NM_001369.3(DNAH5):c.1256C>A (p.Ser419Tyr)
|
|
|
NM_001369.3(DNAH5):c.12572T>C (p.Leu4191Pro)
|
rs1312032248
|
|
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.12586C>T (p.Gln4196Ter)
|
rs886059965
|
|
NM_001369.3(DNAH5):c.12587A>G (p.Gln4196Arg)
|
|
|
NM_001369.3(DNAH5):c.12591G>A (p.Glu4197=)
|
rs2126509239
|
|
NM_001369.3(DNAH5):c.12599dup (p.Phe4201fs)
|
rs1554020233
|
|
NM_001369.3(DNAH5):c.12600G>A (p.Lys4200=)
|
rs1744451695
|
|
NM_001369.3(DNAH5):c.12601T>C (p.Phe4201Leu)
|
|
|
NM_001369.3(DNAH5):c.12608C>T (p.Ala4203Val)
|
|
|
NM_001369.3(DNAH5):c.12609C>T (p.Ala4203=)
|
|
|
NM_001369.3(DNAH5):c.12614G>T (p.Gly4205Val)
|
rs79185772
|
|
NM_001369.3(DNAH5):c.12615G>T (p.Gly4205=)
|
rs755597752
|
|
NM_001369.3(DNAH5):c.12627C>T (p.Pro4209=)
|
rs370958379
|
|
NM_001369.3(DNAH5):c.12630C>A (p.Tyr4210Ter)
|
|
|
NM_001369.3(DNAH5):c.12631G>T (p.Glu4211Ter)
|
rs762673561
|
|
NM_001369.3(DNAH5):c.12644C>T (p.Ala4215Val)
|
|
|
NM_001369.3(DNAH5):c.12645G>A (p.Ala4215=)
|
|
|
NM_001369.3(DNAH5):c.12646G>A (p.Asp4216Asn)
|
|
|
NM_001369.3(DNAH5):c.12654T>C (p.Asn4218=)
|
|
|
NM_001369.3(DNAH5):c.12660T>C (p.Thr4220=)
|
rs2126508689
|
|
NM_001369.3(DNAH5):c.12664C>T (p.Gln4222Ter)
|
rs2126508639
|
|
NM_001369.3(DNAH5):c.12673C>T (p.Gln4225Ter)
|
|
|
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+1G>A
|
|
|
NM_001369.3(DNAH5):c.12705+1G>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.12708_12709inv (p.Val4237Ile)
|
|
|
NM_001369.3(DNAH5):c.12709G>T (p.Val4237Phe)
|
rs138045391
|
|
NM_001369.3(DNAH5):c.12716G>A (p.Trp4239Ter)
|
rs1744320103
|
|
NM_001369.3(DNAH5):c.12720C>T (p.Thr4240=)
|
rs756222017
|
|
NM_001369.3(DNAH5):c.12728G>A (p.Arg4243His)
|
|
|
NM_001369.3(DNAH5):c.1275G>A (p.Gln425=)
|
|
|
NM_001369.3(DNAH5):c.12762_12763del (p.Arg4254fs)
|
rs1579881985
|
|
NM_001369.3(DNAH5):c.12765C>T (p.Val4255=)
|
rs561983296
|
|
NM_001369.3(DNAH5):c.12765del (p.Thr4256fs)
|
|
|
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.12778_12780del (p.Asp4260del)
|
|
|
NM_001369.3(DNAH5):c.12779A>T (p.Asp4260Val)
|
rs1744309029
|
|
NM_001369.3(DNAH5):c.12783G>A (p.Lys4261=)
|
|
|
NM_001369.3(DNAH5):c.12785G>A (p.Arg4262Lys)
|
rs1744308032
|
|
NM_001369.3(DNAH5):c.1278T>C (p.Asp426=)
|
rs2151982189
|
|
NM_001369.3(DNAH5):c.12794del (p.Asn4265fs)
|
|
|
NM_001369.3(DNAH5):c.12813G>A (p.Trp4271Ter)
|
rs763259925
|
|
NM_001369.3(DNAH5):c.12816C>T (p.Phe4272=)
|
rs2126503800
|
|
NM_001369.3(DNAH5):c.12827T>C (p.Met4276Thr)
|
|
|
NM_001369.3(DNAH5):c.1282G>A (p.Val428Ile)
|
|
|
NM_001369.3(DNAH5):c.12837A>G (p.Pro4279=)
|
rs1472495875
|
|
NM_001369.3(DNAH5):c.12839A>T (p.Asp4280Val)
|
|
|
NM_001369.3(DNAH5):c.12850dup (p.Tyr4284fs)
|
rs1744302993
|
|
NM_001369.3(DNAH5):c.12851A>G (p.Tyr4284Cys)
|
|
|
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>G (p.Ile4302Met)
|
|
|
NM_001369.3(DNAH5):c.12906C>T (p.Ile4302=)
|
|
|
NM_001369.3(DNAH5):c.12907C>G (p.Gln4303Glu)
|
|
|
NM_001369.3(DNAH5):c.12909+15G>A
|
|
|
NM_001369.3(DNAH5):c.12909+15G>T
|
|
|
NM_001369.3(DNAH5):c.12909+2T>C
|
rs2126503314
|
|
NM_001369.3(DNAH5):c.12909+7C>T
|
rs1476942856
|
|
NM_001369.3(DNAH5):c.12909+9A>C
|
rs1554019790
|
|
NM_001369.3(DNAH5):c.12909+9A>G
|
rs1554019790
|
|
NM_001369.3(DNAH5):c.12910-15G>A
|
|
|
NM_001369.3(DNAH5):c.12910-15del
|
|
|
NM_001369.3(DNAH5):c.12910-17G>A
|
|
|
NM_001369.3(DNAH5):c.12910-1G>C
|
rs1561097225
|
|
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.12934G>A (p.Glu4312Lys)
|
|
|
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.13013G>C (p.Gly4338Ala)
|
rs1744030966
|
|
NM_001369.3(DNAH5):c.13015A>C (p.Ile4339Leu)
|
|
|
NM_001369.3(DNAH5):c.13018C>T (p.Gln4340Ter)
|
|
|
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.13037G>T (p.Gly4346Val)
|
rs371027404
|
|
NM_001369.3(DNAH5):c.13039G>A (p.Gly4347Arg)
|
|
|
NM_001369.3(DNAH5):c.13044G>A (p.Gly4348=)
|
|
|
NM_001369.3(DNAH5):c.1304C>T (p.Ala435Val)
|
|
|
NM_001369.3(DNAH5):c.13059G>A (p.Glu4353=)
|
rs2126492862
|
|
NM_001369.3(DNAH5):c.13060G>T (p.Ala4354Ser)
|
|
|
NM_001369.3(DNAH5):c.13060del (p.Ala4354fs)
|
rs1370489117
|
|
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.13112A>G (p.Tyr4371Cys)
|
|
|
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.13126-2A>C
|
rs863224503
|
|
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.13159C>T (p.Gln4387Ter)
|
rs1195383216
|
|
NM_001369.3(DNAH5):c.13164T>A (p.Pro4388=)
|
rs2126456298
|
|
NM_001369.3(DNAH5):c.13179C>T (p.Leu4393=)
|
|
|
NM_001369.3(DNAH5):c.13180A>G (p.Arg4394Gly)
|
rs1446970822
|
|
NM_001369.3(DNAH5):c.13188A>G (p.Glu4396=)
|
|
|
NM_001369.3(DNAH5):c.13194_13197del (p.Asp4398fs)
|
rs727502971
|
|
NM_001369.3(DNAH5):c.13199T>C (p.Met4400Thr)
|
|
|
NM_001369.3(DNAH5):c.1319A>G (p.Gln440Arg)
|
rs2151982078
|
|
NM_001369.3(DNAH5):c.1320+10A>G
|
rs369671081
|
|
NM_001369.3(DNAH5):c.1320+14T>C
|
|
|
NM_001369.3(DNAH5):c.1320+16G>A
|
|
|
NM_001369.3(DNAH5):c.1320+18A>G
|
|
|
NM_001369.3(DNAH5):c.1320+2T>C
|
|
|
NM_001369.3(DNAH5):c.1320+9C>T
|
|
|
NM_001369.3(DNAH5):c.1321-10T>C
|
|
|
NM_001369.3(DNAH5):c.1321-10del
|
rs767472532
|
|
NM_001369.3(DNAH5):c.1321-19T>C
|
|
|
NM_001369.3(DNAH5):c.1321-27_1321-11del
|
|
|
NM_001369.3(DNAH5):c.1321-2A>G
|
rs2151981226
|
|
NM_001369.3(DNAH5):c.1321-4dup
|
|
|
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.13231C>G (p.Leu4411Val)
|
rs941923241
|
|
NM_001369.3(DNAH5):c.13232T>C (p.Leu4411Pro)
|
|
|
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>G (p.Ile4422Met)
|
rs1561084758
|
|
NM_001369.3(DNAH5):c.13266C>T (p.Ile4422=)
|
|
|
NM_001369.3(DNAH5):c.1326C>G (p.Tyr442Ter)
|
rs1291311803
|
|
NM_001369.3(DNAH5):c.1326C>T (p.Tyr442=)
|
rs1291311803
|
|
NM_001369.3(DNAH5):c.13285C>T (p.Arg4429Ter)
|
rs1743041017
|
|
NM_001369.3(DNAH5):c.13293A>G (p.Ala4431=)
|
rs2126455297
|
|
NM_001369.3(DNAH5):c.13294T>C (p.Leu4432=)
|
rs1743039989
|
|
NM_001369.3(DNAH5):c.13300dup (p.Cys4434fs)
|
|
|
NM_001369.3(DNAH5):c.13309del (p.Asp4437fs)
|
rs1743038020
|
|
NM_001369.3(DNAH5):c.1331T>C (p.Leu444Pro)
|
|
|
NM_001369.3(DNAH5):c.13320C>T (p.Ile4440=)
|
rs2126455088
|
|
NM_001369.3(DNAH5):c.1332C>G (p.Leu444=)
|
rs375771650
|
|
NM_001369.3(DNAH5):c.1332C>T (p.Leu444=)
|
rs375771650
|
|
NM_001369.3(DNAH5):c.13331G>A (p.Trp4444Ter)
|
rs1060501467
|
|
NM_001369.3(DNAH5):c.13331G>T (p.Trp4444Leu)
|
rs1060501467
|
|
NM_001369.3(DNAH5):c.13338+13C>A
|
|
|
NM_001369.3(DNAH5):c.13338+18G>A
|
|
|
NM_001369.3(DNAH5):c.13338+18G>T
|
|
|
NM_001369.3(DNAH5):c.13338+1G>A
|
|
|
NM_001369.3(DNAH5):c.13338del (p.Ala4447fs)
|
rs1554017211
|
|
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.13346G>A (p.Trp4449Ter)
|
rs1561073938
|
|
NM_001369.3(DNAH5):c.13358C>T (p.Thr4453Ile)
|
|
|
NM_001369.3(DNAH5):c.13362G>T (p.Leu4454=)
|
rs2126410290
|
|
NM_001369.3(DNAH5):c.13364G>A (p.Gly4455Asp)
|
rs370684795
|
|
NM_001369.3(DNAH5):c.13364G>T (p.Gly4455Val)
|
|
|
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.1339C>T (p.His447Tyr)
|
|
|
NM_001369.3(DNAH5):c.13405A>G (p.Thr4469Ala)
|
|
|
NM_001369.3(DNAH5):c.13407C>A (p.Thr4469=)
|
|
|
NM_001369.3(DNAH5):c.13409C>T (p.Ser4470Leu)
|
|
|
NM_001369.3(DNAH5):c.13410G>C (p.Ser4470=)
|
rs368920785
|
|
NM_001369.3(DNAH5):c.13412G>A (p.Trp4471Ter)
|
|
|
NM_001369.3(DNAH5):c.1341C>T (p.His447=)
|
rs886060014
|
|
NM_001369.3(DNAH5):c.1342A>T (p.Lys448Ter)
|
rs1227276816
|
|
NM_001369.3(DNAH5):c.13432_13435del (p.His4478fs)
|
rs760742856
|
|
NM_001369.3(DNAH5):c.13443G>A (p.Trp4481Ter)
|
rs1742088018
|
|
NM_001369.3(DNAH5):c.13444A>T (p.Met4482Leu)
|
|
|
NM_001369.3(DNAH5):c.13445del (p.Met4482fs)
|
|
|
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.13457_13475del (p.Phe4485_Phe4486insTer)
|
rs2126409121
|
|
NM_001369.3(DNAH5):c.13458del (p.Phe4486fs)
|
|
|
NM_001369.3(DNAH5):c.13458dup (p.Asn4487Ter)
|
rs775696136
|
|
NM_001369.3(DNAH5):c.13461C>T (p.Asn4487=)
|
rs572989128
|
|
NM_001369.3(DNAH5):c.13462C>T (p.Pro4488Ser)
|
|
|
NM_001369.3(DNAH5):c.13465C>T (p.Gln4489Ter)
|
|
|
NM_001369.3(DNAH5):c.13470A>T (p.Gly4490=)
|
|
|
NM_001369.3(DNAH5):c.13481C>A (p.Ala4494Glu)
|
|
|
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+1G>A
|
|
|
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.1351_1355del (p.Gln451fs)
|
rs2151981160
|
|
NM_001369.3(DNAH5):c.13527C>T (p.Asp4509=)
|
|
|
NM_001369.3(DNAH5):c.13543A>G (p.Asn4515Asp)
|
|
|
NM_001369.3(DNAH5):c.13544dup (p.Asn4515fs)
|
rs2126405266
|
|
NM_001369.3(DNAH5):c.13548A>G (p.Glu4516=)
|
rs1742000009
|
|
NM_001369.3(DNAH5):c.1355del (p.Lys452fs)
|
|
|
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.13593_13594delinsAT (p.Gly4532Cys)
|
|
|
NM_001369.3(DNAH5):c.13602T>A (p.Tyr4534Ter)
|
|
|
NM_001369.3(DNAH5):c.13605C>T (p.Val4535=)
|
rs1211208126
|
|
NM_001369.3(DNAH5):c.13608T>C (p.Tyr4536=)
|
|
|
NM_001369.3(DNAH5):c.13609G>T (p.Gly4537Cys)
|
rs1741988812
|
|
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.13628C>T (p.Ala4543Val)
|
rs2126404399
|
|
NM_001369.3(DNAH5):c.13633T>C (p.Trp4545Arg)
|
rs1161303371
|
|
NM_001369.3(DNAH5):c.13656C>A (p.Leu4552=)
|
rs1561071962
|
|
NM_001369.3(DNAH5):c.13656_13659del (p.Ile4553fs)
|
|
|
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.13714G>A (p.Glu4572Lys)
|
rs768846678
|
|
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.13724-5dup
|
rs1740776209
|
|
NM_001369.3(DNAH5):c.13729C>T (p.Arg4577Ter)
|
|
|
NM_001369.3(DNAH5):c.13738C>T (p.Arg4580Trp)
|
|
|
NM_001369.3(DNAH5):c.1373del (p.Asn458fs)
|
rs1776339162
|
|
NM_001369.3(DNAH5):c.13740G>A (p.Arg4580=)
|
|
|
NM_001369.3(DNAH5):c.13746C>A (p.Tyr4582Ter)
|
rs369094478
|
|
NM_001369.3(DNAH5):c.13749C>G (p.Ser4583=)
|
rs1452713574
|
|
NM_001369.3(DNAH5):c.13749C>T (p.Ser4583=)
|
|
|
NM_001369.3(DNAH5):c.13753C>T (p.Pro4585Ser)
|
|
|
NM_001369.3(DNAH5):c.13760A>G (p.Tyr4587Cys)
|
rs1320036244
|
|
NM_001369.3(DNAH5):c.13773T>G (p.Val4591=)
|
rs1479332924
|
|
NM_001369.3(DNAH5):c.13774C>A (p.Arg4592=)
|
|
|
NM_001369.3(DNAH5):c.13775G>C (p.Arg4592Pro)
|
rs367709427
|
|
NM_001369.3(DNAH5):c.13779G>C (p.Thr4593=)
|
rs200555581
|
|
NM_001369.3(DNAH5):c.13791C>T (p.Tyr4597=)
|
|
|
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.1380del (p.Lys460fs)
|
rs2151981122
|
|
NM_001369.3(DNAH5):c.13817C>A (p.Ala4606Asp)
|
rs770244453
|
|
NM_001369.3(DNAH5):c.13825C>G (p.Pro4609Ala)
|
|
|
NM_001369.3(DNAH5):c.13839G>A (p.Val4613=)
|
|
|
NM_001369.3(DNAH5):c.13849G>T (p.Val4617Phe)
|
|
|
NM_001369.3(DNAH5):c.13862G>A (p.Cys4621Tyr)
|
rs1554012799
|
|
NM_001369.3(DNAH5):c.13862G>C (p.Cys4621Ser)
|
|
|
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.1427_1428del (p.Phe476fs)
|
rs774493427
|
|
NM_001369.3(DNAH5):c.1437C>A (p.Arg479=)
|
rs750516422
|
|
NM_001369.3(DNAH5):c.1437C>T (p.Arg479=)
|
rs750516422
|
|
NM_001369.3(DNAH5):c.1438C>T (p.Leu480Phe)
|
rs1580863552
|
|
NM_001369.3(DNAH5):c.1450del (p.Ile483_Ile484insTer)
|
|
|
NM_001369.3(DNAH5):c.1458C>T (p.Ile486=)
|
rs2151980986
|
|
NM_001369.3(DNAH5):c.1463C>G (p.Thr488Arg)
|
|
|
NM_001369.3(DNAH5):c.1464A>G (p.Thr488=)
|
rs2151980971
|
|
NM_001369.3(DNAH5):c.1466C>T (p.Thr489Ile)
|
rs764562876
|
|
NM_001369.3(DNAH5):c.1475C>A (p.Thr492Lys)
|
rs189145014
|
|
NM_001369.3(DNAH5):c.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.1517dup (p.Asp506fs)
|
rs1554101045
|
|
NM_001369.3(DNAH5):c.1518C>A (p.Asp506Glu)
|
|
|
NM_001369.3(DNAH5):c.1522G>A (p.Ala508Thr)
|
|
|
NM_001369.3(DNAH5):c.1524C>A (p.Ala508=)
|
|
|
NM_001369.3(DNAH5):c.1524C>G (p.Ala508=)
|
rs2151980816
|
|
NM_001369.3(DNAH5):c.1528A>G (p.Lys510Glu)
|
|
|
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.1536G>A (p.Gln512=)
|
rs541266118
|
|
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.1553T>C (p.Ile518Thr)
|
|
|
NM_001369.3(DNAH5):c.1562dup (p.Glu522fs)
|
|
|
NM_001369.3(DNAH5):c.1563G>A (p.Lys521=)
|
rs1580853552
|
|
NM_001369.3(DNAH5):c.1569C>G (p.Tyr523Ter)
|
rs2151977768
|
|
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.1611C>G (p.Tyr537Ter)
|
rs367877988
|
|
NM_001369.3(DNAH5):c.1616A>C (p.Glu539Ala)
|
|
|
NM_001369.3(DNAH5):c.1626G>A (p.Lys542=)
|
rs2151977672
|
|
NM_001369.3(DNAH5):c.1627C>T (p.Gln543Ter)
|
rs2151977668
|
|
NM_001369.3(DNAH5):c.1638C>A (p.Asp546Glu)
|
rs375037194
|
|
NM_001369.3(DNAH5):c.1638C>T (p.Asp546=)
|
rs375037194
|
|
NM_001369.3(DNAH5):c.1639C>T (p.Leu547Phe)
|
rs1775975227
|
|
NM_001369.3(DNAH5):c.1639del (p.Leu547fs)
|
rs1580853061
|
|
NM_001369.3(DNAH5):c.1641T>C (p.Leu547=)
|
rs751970542
|
|
NM_001369.3(DNAH5):c.1643A>C (p.His548Pro)
|
|
|
NM_001369.3(DNAH5):c.1644+16A>T
|
|
|
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.1645-2A>G
|
|
|
NM_001369.3(DNAH5):c.1645-8T>G
|
rs2151964175
|
|
NM_001369.3(DNAH5):c.1647C>T (p.Asn549=)
|
rs139160176
|
|
NM_001369.3(DNAH5):c.1654C>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.1669G>A (p.Val557Ile)
|
|
|
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.1683G>C (p.Lys561Asn)
|
|
|
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.1717A>T (p.Lys573Ter)
|
|
|
NM_001369.3(DNAH5):c.1722del (p.Lys574fs)
|
rs1164037667
|
|
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.1731-5dup
|
rs1489967874
|
|
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.1792G>A (p.Ala598Thr)
|
rs863224706
|
|
NM_001369.3(DNAH5):c.1798A>G (p.Ile600Val)
|
|
|
NM_001369.3(DNAH5):c.1799T>C (p.Ile600Thr)
|
|
|
NM_001369.3(DNAH5):c.1818G>C (p.Leu606=)
|
|
|
NM_001369.3(DNAH5):c.1828C>G (p.Gln610Glu)
|
|
|
NM_001369.3(DNAH5):c.1842T>G (p.Pro614=)
|
rs2151963173
|
|
NM_001369.3(DNAH5):c.1852C>T (p.Arg618Ter)
|
rs778780449
|
|
NM_001369.3(DNAH5):c.1856A>C (p.Asn619Thr)
|
|
|
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.1891C>T (p.Arg631Cys)
|
|
|
NM_001369.3(DNAH5):c.1896G>A (p.Gln632=)
|
rs746476934
|
|
NM_001369.3(DNAH5):c.1896G>C (p.Gln632His)
|
|
|
NM_001369.3(DNAH5):c.1899C>T (p.Leu633=)
|
|
|
NM_001369.3(DNAH5):c.1900T>C (p.Phe634Leu)
|
rs1580809647
|
|
NM_001369.3(DNAH5):c.1902C>T (p.Phe634=)
|
|
|
NM_001369.3(DNAH5):c.1914G>A (p.Gln638=)
|
rs2151962998
|
|
NM_001369.3(DNAH5):c.1915C>T (p.Gln639Ter)
|
rs1580809557
|
|
NM_001369.3(DNAH5):c.192+11T>C
|
|
|
NM_001369.3(DNAH5):c.192+5G>A
|
|
|
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.1924C>T (p.Gln642Ter)
|
|
|
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.193-1G>A
|
rs369193065
|
|
NM_001369.3(DNAH5):c.193-2A>G
|
rs769267893
|
|
NM_001369.3(DNAH5):c.193-3C>A
|
|
|
NM_001369.3(DNAH5):c.193-6T>A
|
|
|
NM_001369.3(DNAH5):c.1933C>T (p.Gln645Ter)
|
rs2151962965
|
|
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.1958C>A (p.Thr653Lys)
|
|
|
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.1988dup (p.Tyr663Ter)
|
|
|
NM_001369.3(DNAH5):c.1989C>A (p.Tyr663Ter)
|
|
|
NM_001369.3(DNAH5):c.1992C>T (p.Asn664=)
|
|
|
NM_001369.3(DNAH5):c.2001C>T (p.Ala667=)
|
rs1774581519
|
|
NM_001369.3(DNAH5):c.2004G>C (p.Lys668Asn)
|
rs1226480889
|
|
NM_001369.3(DNAH5):c.2007C>T (p.Val669=)
|
|
|
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.2050C>T (p.Gln684Ter)
|
rs1774569874
|
|
NM_001369.3(DNAH5):c.2052+15T>C
|
|
|
NM_001369.3(DNAH5):c.2052+18T>C
|
|
|
NM_001369.3(DNAH5):c.2052+19A>C
|
|
|
NM_001369.3(DNAH5):c.2052+2T>C
|
|
|
NM_001369.3(DNAH5):c.2052+3G>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.2053-18_2064del
|
rs1774445982
|
|
NM_001369.3(DNAH5):c.2053-20A>T
|
|
|
NM_001369.3(DNAH5):c.2053-7C>T
|
rs1325993261
|
|
NM_001369.3(DNAH5):c.2053-9T>C
|
|
|
NM_001369.3(DNAH5):c.2054T>C (p.Ile685Thr)
|
|
|
NM_001369.3(DNAH5):c.2070A>T (p.Val690=)
|
rs2151961452
|
|
NM_001369.3(DNAH5):c.2071G>A (p.Gly691Ser)
|
rs866977828
|
|
NM_001369.3(DNAH5):c.2072G>A (p.Gly691Asp)
|
|
|
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.2090T>A (p.Leu697Ter)
|
|
|
NM_001369.3(DNAH5):c.2094G>A (p.Val698=)
|
rs769746319
|
|
NM_001369.3(DNAH5):c.2098G>C (p.Ala700Pro)
|
|
|
NM_001369.3(DNAH5):c.2100_2106del (p.Pro701fs)
|
|
|
NM_001369.3(DNAH5):c.2101C>T (p.Pro701Ser)
|
|
|
NM_001369.3(DNAH5):c.2103A>G (p.Pro701=)
|
rs1287386869
|
|
NM_001369.3(DNAH5):c.2104G>C (p.Gly702Arg)
|
|
|
NM_001369.3(DNAH5):c.2112G>A (p.Gly704=)
|
|
|
NM_001369.3(DNAH5):c.2113G>T (p.Glu705Ter)
|
rs780489890
|
|
NM_001369.3(DNAH5):c.2115A>G (p.Glu705=)
|
|
|
NM_001369.3(DNAH5):c.2117_2136dup (p.Gln713delinsCysLeuTer)
|
|
|
NM_001369.3(DNAH5):c.2118G>A (p.Leu706=)
|
rs766984347
|
|
NM_001369.3(DNAH5):c.2119T>C (p.Phe707Leu)
|
rs956123437
|
|
NM_001369.3(DNAH5):c.2137C>T (p.Gln713Ter)
|
|
|
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.2154del (p.Phe718fs)
|
|
|
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.220G>A (p.Val74Ile)
|
|
|
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.2250_2259+674del
|
rs1561532139
|
|
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+1G>A
|
|
|
NM_001369.3(DNAH5):c.2259+20T>C
|
|
|
NM_001369.3(DNAH5):c.2259+20del
|
|
|
NM_001369.3(DNAH5):c.2259+9C>G
|
rs2151960990
|
|
NM_001369.3(DNAH5):c.2260-19A>C
|
|
|
NM_001369.3(DNAH5):c.2260-1G>A
|
rs1561524235
|
|
NM_001369.3(DNAH5):c.2260-2A>G
|
rs1773706886
|
|
NM_001369.3(DNAH5):c.2260-7A>T
|
rs530639771
|
|
NM_001369.3(DNAH5):c.2261dup (p.Met754fs)
|
rs672601333
|
|
NM_001369.3(DNAH5):c.2262dup (p.Met755fs)
|
rs2151953686
|
|
NM_001369.3(DNAH5):c.2268A>G (p.Leu756=)
|
|
|
NM_001369.3(DNAH5):c.2277T>C (p.Tyr759=)
|
|
|
NM_001369.3(DNAH5):c.2283_2284del (p.Arg761fs)
|
rs1462578042
|
|
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.2298A>G (p.Ile766Met)
|
|
|
NM_001369.3(DNAH5):c.2311G>A (p.Glu771Lys)
|
rs1216239202
|
|
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.232C>T (p.Arg78Ter)
|
rs1314223921
|
|
NM_001369.3(DNAH5):c.2337C>T (p.Ala779=)
|
|
|
NM_001369.3(DNAH5):c.2339A>C (p.Lys780Thr)
|
rs1773692803
|
|
NM_001369.3(DNAH5):c.233G>A (p.Arg78Gln)
|
|
|
NM_001369.3(DNAH5):c.2345A>G (p.Asp782Gly)
|
|
|
NM_001369.3(DNAH5):c.2349dup (p.Ala784fs)
|
|
|
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.2380T>C (p.Trp794Arg)
|
|
|
NM_001369.3(DNAH5):c.2382G>T (p.Trp794Cys)
|
rs2151953467
|
|
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+1G>A
|
|
|
NM_001369.3(DNAH5):c.2431+1G>T
|
|
|
NM_001369.3(DNAH5):c.2431+9G>C
|
rs1773679921
|
|
NM_001369.3(DNAH5):c.2432-13dup
|
rs2151949072
|
|
NM_001369.3(DNAH5):c.2432-15T>C
|
|
|
NM_001369.3(DNAH5):c.2432-16T>C
|
|
|
NM_001369.3(DNAH5):c.2432-18T>C
|
|
|
NM_001369.3(DNAH5):c.2432-1G>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.2440G>T (p.Glu814Ter)
|
|
|
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.2461A>G (p.Asn821Asp)
|
|
|
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.2479C>A (p.Arg827Ser)
|
rs760986984
|
|
NM_001369.3(DNAH5):c.2479C>T (p.Arg827Cys)
|
|
|
NM_001369.3(DNAH5):c.2480G>A (p.Arg827His)
|
|
|
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.2504T>A (p.Met835Lys)
|
rs1554092890
|
|
NM_001369.3(DNAH5):c.250T>C (p.Tyr84His)
|
|
|
NM_001369.3(DNAH5):c.2513C>T (p.Thr838Met)
|
|
|
NM_001369.3(DNAH5):c.2514G>T (p.Thr838=)
|
|
|
NM_001369.3(DNAH5):c.251A>G (p.Tyr84Cys)
|
|
|
NM_001369.3(DNAH5):c.2520T>C (p.Leu840=)
|
rs1416452557
|
|
NM_001369.3(DNAH5):c.2529T>A (p.Leu843=)
|
rs1580766255
|
|
NM_001369.3(DNAH5):c.2532C>G (p.Pro844=)
|
rs2151948872
|
|
NM_001369.3(DNAH5):c.2536G>A (p.Glu846Lys)
|
rs1773148161
|
|
NM_001369.3(DNAH5):c.2541G>A (p.Glu847=)
|
rs1488661269
|
|
NM_001369.3(DNAH5):c.2545C>T (p.Leu849=)
|
rs1773146294
|
|
NM_001369.3(DNAH5):c.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.2577+1G>A
|
|
|
NM_001369.3(DNAH5):c.2577+1G>T
|
|
|
NM_001369.3(DNAH5):c.2577+2del
|
|
|
NM_001369.3(DNAH5):c.2577+5T>G
|
rs201596289
|
|
NM_001369.3(DNAH5):c.2578-10_2578-7del
|
rs71600031
|
|
NM_001369.3(DNAH5):c.2578-11T>G
|
|
|
NM_001369.3(DNAH5):c.2578-13_2578-7dup
|
rs71600031
|
|
NM_001369.3(DNAH5):c.2578-15_2578-7dup
|
rs71600031
|
|
NM_001369.3(DNAH5):c.2578-18T>C
|
|
|
NM_001369.3(DNAH5):c.2578-19_2578-7dup
|
rs71600031
|
|
NM_001369.3(DNAH5):c.2578-1G>A
|
rs1166599454
|
|
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.2578-7del
|
rs71600031
|
|
NM_001369.3(DNAH5):c.2578-8_2578-7del
|
rs71600031
|
|
NM_001369.3(DNAH5):c.2578-9_2578-7del
|
rs71600031
|
|
NM_001369.3(DNAH5):c.2578G>A (p.Asp860Asn)
|
|
|
NM_001369.3(DNAH5):c.2598A>G (p.Ala866=)
|
|
|
NM_001369.3(DNAH5):c.2599C>T (p.Gln867Ter)
|
|
|
NM_001369.3(DNAH5):c.259G>A (p.Val87Met)
|
rs1778067241
|
|
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.2648T>C (p.Leu883Pro)
|
rs2151943048
|
|
NM_001369.3(DNAH5):c.264G>A (p.Glu88=)
|
|
|
NM_001369.3(DNAH5):c.2660T>A (p.Leu887Ter)
|
rs2151943036
|
|
NM_001369.3(DNAH5):c.2673A>G (p.Glu891=)
|
rs1772380664
|
|
NM_001369.3(DNAH5):c.2674del (p.Val892fs)
|
|
|
NM_001369.3(DNAH5):c.2677T>C (p.Leu893=)
|
|
|
NM_001369.3(DNAH5):c.2694T>C (p.Ser898=)
|
|
|
NM_001369.3(DNAH5):c.2700A>C (p.Lys900Asn)
|
|
|
NM_001369.3(DNAH5):c.2703A>T (p.Ile901=)
|
rs1580744784
|
|
NM_001369.3(DNAH5):c.2706C>A (p.Ser902=)
|
rs778689338
|
|
NM_001369.3(DNAH5):c.2710G>T (p.Glu904Ter)
|
rs1554090927
|
|
NM_001369.3(DNAH5):c.2714_2717dup (p.Ser906delinsArgTer)
|
|
|
NM_001369.3(DNAH5):c.2715T>C (p.Asn905=)
|
rs2151942937
|
|
NM_001369.3(DNAH5):c.2717G>C (p.Ser906Thr)
|
rs540038644
|
|
NM_001369.3(DNAH5):c.2718T>C (p.Ser906=)
|
rs2151942929
|
|
NM_001369.3(DNAH5):c.2719G>A (p.Val907Ile)
|
rs1772373275
|
|
NM_001369.3(DNAH5):c.271G>T (p.Glu91Ter)
|
rs750649191
|
|
NM_001369.3(DNAH5):c.2722A>C (p.Asn908His)
|
|
|
NM_001369.3(DNAH5):c.2723A>G (p.Asn908Ser)
|
|
|
NM_001369.3(DNAH5):c.2732A>G (p.Asn911Ser)
|
|
|
NM_001369.3(DNAH5):c.2734G>T (p.Glu912Ter)
|
rs1772369775
|
|
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+3A>T
|
rs752170130
|
|
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.2744-2A>T
|
|
|
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.2752G>T (p.Glu918Ter)
|
rs2151941841
|
|
NM_001369.3(DNAH5):c.2753AAG[1] (p.Glu919del)
|
rs762827509
|
|
NM_001369.3(DNAH5):c.275C>G (p.Thr92Arg)
|
rs765566079
|
|
NM_001369.3(DNAH5):c.277+12T>C
|
|
|
NM_001369.3(DNAH5):c.277+20C>T
|
|
|
NM_001369.3(DNAH5):c.2772del (p.Thr924_Leu925insTer)
|
rs1554090622
|
|
NM_001369.3(DNAH5):c.2774del (p.Thr924_Leu925insTer)
|
|
|
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.278-5del
|
|
|
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.2804C>T (p.Ala935Val)
|
rs1457781570
|
|
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.2834del (p.Lys945fs)
|
rs2151941712
|
|
NM_001369.3(DNAH5):c.2839_2842del (p.Glu947fs)
|
rs1772220687
|
|
NM_001369.3(DNAH5):c.2844T>C (p.Thr948=)
|
rs2151941677
|
|
NM_001369.3(DNAH5):c.2844_2845del (p.Glu949fs)
|
|
|
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.2869G>A (p.Glu957Lys)
|
|
|
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.2899A>C (p.Met967Leu)
|
|
|
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>C (p.Thr977=)
|
rs1469143674
|
|
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.2939C>A (p.Ala980Asp)
|
rs2151941469
|
|
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.2953A>G (p.Ile985Val)
|
rs377668816
|
|
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.2984-2A>C
|
rs757801770
|
|
NM_001369.3(DNAH5):c.2984-5C>T
|
rs1350219806
|
|
NM_001369.3(DNAH5):c.2984-6A>C
|
rs2151938834
|
|
NM_001369.3(DNAH5):c.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.2995G>T (p.Ala999Ser)
|
|
|
NM_001369.3(DNAH5):c.2997C>T (p.Ala999=)
|
rs760587023
|
|
NM_001369.3(DNAH5):c.3003C>A (p.Asn1001Lys)
|
rs752944631
|
|
NM_001369.3(DNAH5):c.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.3020del (p.Leu1007fs)
|
rs1771899943
|
|
NM_001369.3(DNAH5):c.3025A>C (p.Ile1009Leu)
|
|
|
NM_001369.3(DNAH5):c.3032G>A (p.Arg1011Gln)
|
|
|
NM_001369.3(DNAH5):c.3036A>C (p.Ala1012=)
|
|
|
NM_001369.3(DNAH5):c.3037_3040del (p.Val1014fs)
|
rs1580731750
|
|
NM_001369.3(DNAH5):c.303A>G (p.Val101=)
|
|
|
NM_001369.3(DNAH5):c.3050C>T (p.Ala1017Val)
|
rs2151938659
|
|
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.3127A>G (p.Ser1043Gly)
|
rs1771881510
|
|
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.3155_3162dup (p.Leu1055fs)
|
rs2151938387
|
|
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.3175-1G>A
|
|
|
NM_001369.3(DNAH5):c.3175-9A>G
|
rs2151938218
|
|
NM_001369.3(DNAH5):c.3181A>C (p.Ile1061Leu)
|
|
|
NM_001369.3(DNAH5):c.3181A>G (p.Ile1061Val)
|
|
|
NM_001369.3(DNAH5):c.3184C>T (p.Gln1062Ter)
|
rs1440167859
|
|
NM_001369.3(DNAH5):c.3189A>C (p.Glu1063Asp)
|
|
|
NM_001369.3(DNAH5):c.3190A>G (p.Arg1064Gly)
|
|
|
NM_001369.3(DNAH5):c.3200C>T (p.Ala1067Val)
|
|
|
NM_001369.3(DNAH5):c.3210G>C (p.Gln1070His)
|
|
|
NM_001369.3(DNAH5):c.3212G>A (p.Ser1071Asn)
|
rs2151938135
|
|
NM_001369.3(DNAH5):c.3219A>G (p.Glu1073=)
|
rs2151938127
|
|
NM_001369.3(DNAH5):c.3222C>T (p.Asp1074=)
|
rs1771849259
|
|
NM_001369.3(DNAH5):c.3234T>C (p.Asp1078=)
|
rs2151938106
|
|
NM_001369.3(DNAH5):c.3248A>T (p.Glu1083Val)
|
|
|
NM_001369.3(DNAH5):c.3259C>T (p.Gln1087Ter)
|
rs1771846004
|
|
NM_001369.3(DNAH5):c.325A>T (p.Lys109Ter)
|
|
|
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+1G>A
|
rs757275351
|
|
NM_001369.3(DNAH5):c.3262+1del
|
|
|
NM_001369.3(DNAH5):c.3262+20T>G
|
|
|
NM_001369.3(DNAH5):c.3262+2T>G
|
rs2151938077
|
|
NM_001369.3(DNAH5):c.3263-13T>G
|
|
|
NM_001369.3(DNAH5):c.3263-19_3263-15del
|
|
|
NM_001369.3(DNAH5):c.3263-2A>G
|
|
|
NM_001369.3(DNAH5):c.3263-3del
|
rs2151929250
|
|
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.3263-9del
|
|
|
NM_001369.3(DNAH5):c.3263-9dup
|
|
|
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.3291dup (p.Pro1098fs)
|
rs762081081
|
|
NM_001369.3(DNAH5):c.3297del (p.Val1101fs)
|
|
|
NM_001369.3(DNAH5):c.3304C>T (p.Gln1102Ter)
|
|
|
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.3316TAT[1] (p.Tyr1107del)
|
|
|
NM_001369.3(DNAH5):c.3322A>G (p.Lys1108Glu)
|
|
|
NM_001369.3(DNAH5):c.3336A>G (p.Glu1112=)
|
rs2151929058
|
|
NM_001369.3(DNAH5):c.3339C>T (p.Asn1113=)
|
rs2151929049
|
|
NM_001369.3(DNAH5):c.3341_3342del (p.Lys1114fs)
|
rs768881056
|
|
NM_001369.3(DNAH5):c.3344A>G (p.Glu1115Gly)
|
|
|
NM_001369.3(DNAH5):c.3378_3379insTG (p.Ile1127Ter)
|
rs1561487416
|
|
NM_001369.3(DNAH5):c.3383A>G (p.Asn1128Ser)
|
|
|
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.340_358del (p.Phe114fs)
|
rs2151997211
|
|
NM_001369.3(DNAH5):c.3415G>C (p.Asp1139His)
|
rs1554085372
|
|
NM_001369.3(DNAH5):c.3438C>G (p.His1146Gln)
|
|
|
NM_001369.3(DNAH5):c.3438C>T (p.His1146=)
|
|
|
NM_001369.3(DNAH5):c.343G>A (p.Val115Met)
|
|
|
NM_001369.3(DNAH5):c.3443G>A (p.Trp1148Ter)
|
rs1007367534
|
|
NM_001369.3(DNAH5):c.3444G>A (p.Trp1148Ter)
|
|
|
NM_001369.3(DNAH5):c.3446A>G (p.Gln1149Arg)
|
|
|
NM_001369.3(DNAH5):c.3457G>T (p.Glu1153Ter)
|
rs779799358
|
|
NM_001369.3(DNAH5):c.3462A>G (p.Glu1154=)
|
|
|
NM_001369.3(DNAH5):c.3466del (p.Ile1156fs)
|
rs775866092
|
|
NM_001369.3(DNAH5):c.3471G>A (p.Lys1157=)
|
rs865979045
|
|
NM_001369.3(DNAH5):c.3473C>T (p.Thr1158Ile)
|
|
|
NM_001369.3(DNAH5):c.3476T>G (p.Phe1159Cys)
|
rs375100071
|
|
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.3491C>T (p.Pro1164Leu)
|
rs878854456
|
|
NM_001369.3(DNAH5):c.349G>T (p.Glu117Ter)
|
rs116128702
|
|
NM_001369.3(DNAH5):c.349del (p.Glu117fs)
|
|
|
NM_001369.3(DNAH5):c.3513C>A (p.Ser1171=)
|
rs1770119547
|
|
NM_001369.3(DNAH5):c.3514C>T (p.Gln1172Ter)
|
|
|
NM_001369.3(DNAH5):c.3516G>A (p.Gln1172=)
|
rs2151920417
|
|
NM_001369.3(DNAH5):c.3535C>G (p.Leu1179Val)
|
|
|
NM_001369.3(DNAH5):c.3538G>A (p.Glu1180Lys)
|
rs1561477933
|
|
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.3559C>G (p.Pro1187Ala)
|
|
|
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.3578del (p.Gly1193fs)
|
rs2151920264
|
|
NM_001369.3(DNAH5):c.3589_3590del (p.Leu1197fs)
|
rs1561477725
|
|
NM_001369.3(DNAH5):c.358G>A (p.Asp120Asn)
|
|
|
NM_001369.3(DNAH5):c.3595A>C (p.Thr1199Pro)
|
rs1770106766
|
|
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.3598+1G>A
|
rs2151920209
|
|
NM_001369.3(DNAH5):c.3598+2T>C
|
rs981267400
|
|
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.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.3649A>G (p.Ile1217Val)
|
|
|
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.3669A>T (p.Lys1223Asn)
|
|
|
NM_001369.3(DNAH5):c.3671A>G (p.Lys1224Arg)
|
rs1561476005
|
|
NM_001369.3(DNAH5):c.3675C>G (p.Tyr1225Ter)
|
rs769582678
|
|
NM_001369.3(DNAH5):c.3676C>T (p.Arg1226Trp)
|
|
|
NM_001369.3(DNAH5):c.3677G>A (p.Arg1226Gln)
|
rs781418120
|
|
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.3725A>G (p.Lys1242Arg)
|
rs1769995434
|
|
NM_001369.3(DNAH5):c.3727C>G (p.Leu1243Val)
|
rs2151918770
|
|
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.3767C>T (p.Ala1256Val)
|
|
|
NM_001369.3(DNAH5):c.376del (p.Val126fs)
|
rs35129409
|
|
NM_001369.3(DNAH5):c.3776C>T (p.Ala1259Val)
|
|
|
NM_001369.3(DNAH5):c.3777G>C (p.Ala1259=)
|
rs144893234
|
|
NM_001369.3(DNAH5):c.3780G>A (p.Leu1260=)
|
rs2151918565
|
|
NM_001369.3(DNAH5):c.3784G>T (p.Glu1262Ter)
|
|
|
NM_001369.3(DNAH5):c.3792G>A (p.Arg1264=)
|
|
|
NM_001369.3(DNAH5):c.3795G>C (p.Glu1265Asp)
|
|
|
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+1G>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.3835-16del
|
rs746415006
|
|
NM_001369.3(DNAH5):c.3835-18T>A
|
|
|
NM_001369.3(DNAH5):c.3835-2del
|
rs2151914274
|
|
NM_001369.3(DNAH5):c.3835-3del
|
rs35398031
|
|
NM_001369.3(DNAH5):c.3835-3dup
|
rs35398031
|
|
NM_001369.3(DNAH5):c.3835-4T>A
|
rs2151914292
|
|
NM_001369.3(DNAH5):c.3835-4_3835-3del
|
rs35398031
|
|
NM_001369.3(DNAH5):c.3835-4_3835-3dup
|
rs35398031
|
|
NM_001369.3(DNAH5):c.3835-8T>C
|
rs2151914303
|
|
NM_001369.3(DNAH5):c.3835-8T>G
|
|
|
NM_001369.3(DNAH5):c.3837A>T (p.Glu1279Asp)
|
|
|
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.38G>A (p.Ser13Asn)
|
|
|
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.3912T>G (p.Tyr1304Ter)
|
rs1769515132
|
|
NM_001369.3(DNAH5):c.3917G>A (p.Trp1306Ter)
|
|
|
NM_001369.3(DNAH5):c.3918G>A (p.Trp1306Ter)
|
|
|
NM_001369.3(DNAH5):c.3930G>C (p.Leu1310=)
|
|
|
NM_001369.3(DNAH5):c.3935G>A (p.Arg1312His)
|
|
|
NM_001369.3(DNAH5):c.3943G>A (p.Glu1315Lys)
|
|
|
NM_001369.3(DNAH5):c.3943G>T (p.Glu1315Ter)
|
rs753397685
|
|
NM_001369.3(DNAH5):c.3948C>G (p.Val1316=)
|
rs369432984
|
|
NM_001369.3(DNAH5):c.3959T>C (p.Leu1320Ser)
|
|
|
NM_001369.3(DNAH5):c.3965C>T (p.Ser1322Leu)
|
|
|
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.401A>G (p.Asp134Gly)
|
|
|
NM_001369.3(DNAH5):c.4025G>T (p.Cys1342Phe)
|
|
|
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+1G>A
|
rs1060501466
|
|
NM_001369.3(DNAH5):c.4053+1G>T
|
rs1060501466
|
|
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.4054-1G>A
|
rs2151911687
|
|
NM_001369.3(DNAH5):c.4054-2A>G
|
|
|
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.4078A>T (p.Lys1360Ter)
|
rs1769232570
|
|
NM_001369.3(DNAH5):c.4084C>T (p.Gln1362Ter)
|
rs1210217648
|
|
NM_001369.3(DNAH5):c.4084dup (p.Gln1362fs)
|
rs2151911603
|
|
NM_001369.3(DNAH5):c.4087G>T (p.Glu1363Ter)
|
|
|
NM_001369.3(DNAH5):c.408C>T (p.Ser136=)
|
|
|
NM_001369.3(DNAH5):c.4098C>T (p.Asp1366=)
|
rs1263441445
|
|
NM_001369.3(DNAH5):c.40G>T (p.Val14Phe)
|
|
|
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.4108A>G (p.Met1370Val)
|
|
|
NM_001369.3(DNAH5):c.4113T>G (p.Phe1371Leu)
|
rs1561465310
|
|
NM_001369.3(DNAH5):c.4116+16T>C
|
rs2151911511
|
|
NM_001369.3(DNAH5):c.4116+17C>T
|
|
|
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.4117-1G>A
|
|
|
NM_001369.3(DNAH5):c.4117-2A>G
|
rs1467301649
|
|
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.4145A>G (p.Tyr1382Cys)
|
rs183833827
|
|
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.4157del (p.Thr1386fs)
|
rs1554082872
|
|
NM_001369.3(DNAH5):c.4182G>C (p.Leu1394=)
|
|
|
NM_001369.3(DNAH5):c.4185A>G (p.Pro1395=)
|
|
|
NM_001369.3(DNAH5):c.4201C>T (p.Gln1401Ter)
|
rs1341570153
|
|
NM_001369.3(DNAH5):c.4208T>C (p.Leu1403Pro)
|
|
|
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.4244T>C (p.Ile1415Thr)
|
|
|
NM_001369.3(DNAH5):c.4251T>C (p.Thr1417=)
|
rs2151910839
|
|
NM_001369.3(DNAH5):c.4252C>T (p.Leu1418=)
|
rs191439927
|
|
NM_001369.3(DNAH5):c.4254G>A (p.Leu1418=)
|
rs548183364
|
|
NM_001369.3(DNAH5):c.4254G>C (p.Leu1418=)
|
|
|
NM_001369.3(DNAH5):c.4254G>T (p.Leu1418=)
|
|
|
NM_001369.3(DNAH5):c.4255T>C (p.Tyr1419His)
|
|
|
NM_001369.3(DNAH5):c.426_427delinsG (p.Asp142fs)
|
rs1777499541
|
|
NM_001369.3(DNAH5):c.4270G>T (p.Glu1424Ter)
|
rs2151910789
|
|
NM_001369.3(DNAH5):c.4276G>A (p.Val1426Ile)
|
|
|
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.4282_4295del (p.Tyr1429fs)
|
|
|
NM_001369.3(DNAH5):c.4290T>A (p.Tyr1430Ter)
|
|
|
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+1del
|
|
|
NM_001369.3(DNAH5):c.4355+6A>C
|
|
|
NM_001369.3(DNAH5):c.4355+8A>T
|
|
|
NM_001369.3(DNAH5):c.4356-15G>A
|
|
|
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.4370C>T (p.Pro1457Leu)
|
rs1308493849
|
|
NM_001369.3(DNAH5):c.4372C>T (p.Arg1458Trp)
|
|
|
NM_001369.3(DNAH5):c.4373_4374delinsAT (p.Arg1458His)
|
rs1768954926
|
|
NM_001369.3(DNAH5):c.4375dup (p.Ala1459fs)
|
rs2151908870
|
|
NM_001369.3(DNAH5):c.4377del (p.Ala1459_Leu1460insTer)
|
|
|
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.438+5G>C
|
rs776343117
|
|
NM_001369.3(DNAH5):c.438+6G>A
|
rs2151997008
|
|
NM_001369.3(DNAH5):c.438+6G>C
|
|
|
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.439-3C>T
|
|
|
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.4400dup (p.Leu1467fs)
|
rs1252973555
|
|
NM_001369.3(DNAH5):c.4409A>G (p.Lys1470Arg)
|
|
|
NM_001369.3(DNAH5):c.4410G>A (p.Lys1470=)
|
rs960795516
|
|
NM_001369.3(DNAH5):c.441G>C (p.Glu147Asp)
|
rs200732050
|
|
NM_001369.3(DNAH5):c.4431C>A (p.Ser1477Arg)
|
|
|
NM_001369.3(DNAH5):c.4436G>T (p.Cys1479Phe)
|
|
|
NM_001369.3(DNAH5):c.4442C>T (p.Pro1481Leu)
|
rs144958262
|
|
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.4464del (p.Ser1488fs)
|
|
|
NM_001369.3(DNAH5):c.4469C>T (p.Ala1490Val)
|
rs1768942005
|
|
NM_001369.3(DNAH5):c.4479G>A (p.Glu1493=)
|
|
|
NM_001369.3(DNAH5):c.4488G>A (p.Trp1496Ter)
|
|
|
NM_001369.3(DNAH5):c.4491A>G (p.Glu1497=)
|
|
|
NM_001369.3(DNAH5):c.4505T>A (p.Leu1502His)
|
|
|
NM_001369.3(DNAH5):c.4509C>G (p.Thr1503=)
|
|
|
NM_001369.3(DNAH5):c.4515_4516del (p.His1505fs)
|
rs2151908560
|
|
NM_001369.3(DNAH5):c.4521G>A (p.Leu1507=)
|
rs2151908548
|
|
NM_001369.3(DNAH5):c.4530G>C (p.Gly1510=)
|
|
|
NM_001369.3(DNAH5):c.4530del (p.Asn1511fs)
|
rs1554082275
|
|
NM_001369.3(DNAH5):c.4533T>C (p.Asn1511=)
|
rs2151908506
|
|
NM_001369.3(DNAH5):c.4534_4535dup (p.Ser1513fs)
|
|
|
NM_001369.3(DNAH5):c.4541_4559del (p.Phe1514fs)
|
|
|
NM_001369.3(DNAH5):c.4545G>A (p.Lys1515=)
|
|
|
NM_001369.3(DNAH5):c.4546T>G (p.Leu1516Val)
|
rs1768927489
|
|
NM_001369.3(DNAH5):c.4550_4551insGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAG (p.Asn1518fs)
|
rs2151908470
|
|
NM_001369.3(DNAH5):c.4553A>G (p.Asn1518Ser)
|
|
|
NM_001369.3(DNAH5):c.4559T>C (p.Met1520Thr)
|
rs916516633
|
|
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.4589A>G (p.Glu1530Gly)
|
|
|
NM_001369.3(DNAH5):c.4591A>T (p.Ile1531Leu)
|
|
|
NM_001369.3(DNAH5):c.4596+14T>C
|
|
|
NM_001369.3(DNAH5):c.4596+1G>T
|
rs2151908362
|
|
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.4597-1G>T
|
rs2151905981
|
|
NM_001369.3(DNAH5):c.4597-2A>T
|
|
|
NM_001369.3(DNAH5):c.4597-2del
|
|
|
NM_001369.3(DNAH5):c.4597-4A>G
|
|
|
NM_001369.3(DNAH5):c.459A>G (p.Leu153=)
|
rs1382955783
|
|
NM_001369.3(DNAH5):c.4605dup (p.Ile1536fs)
|
rs864622512
|
|
NM_001369.3(DNAH5):c.4612_4613insATGAAAGAGAGAGACATTGTAT (p.Ala1538fs)
|
|
|
NM_001369.3(DNAH5):c.4619_4622del (p.Lys1540fs)
|
rs2151905927
|
|
NM_001369.3(DNAH5):c.4623G>A (p.Glu1541=)
|
|
|
NM_001369.3(DNAH5):c.4625_4628del (p.Arg1542fs)
|
|
|
NM_001369.3(DNAH5):c.4627_4628del (p.Asp1543fs)
|
rs764262032
|
|
NM_001369.3(DNAH5):c.4629C>T (p.Asp1543=)
|
rs149049465
|
|
NM_001369.3(DNAH5):c.4636C>T (p.Gln1546Ter)
|
rs1344601147
|
|
NM_001369.3(DNAH5):c.4648C>T (p.Gln1550Ter)
|
|
|
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.4664G>A (p.Trp1555Ter)
|
|
|
NM_001369.3(DNAH5):c.4668C>T (p.Asp1556=)
|
rs2151905825
|
|
NM_001369.3(DNAH5):c.4669A>G (p.Asn1557Asp)
|
rs767321919
|
|
NM_001369.3(DNAH5):c.4677A>G (p.Thr1559=)
|
|
|
NM_001369.3(DNAH5):c.468A>T (p.Ala156=)
|
|
|
NM_001369.3(DNAH5):c.4695del (p.Phe1565fs)
|
rs2151905765
|
|
NM_001369.3(DNAH5):c.4701C>G (p.Thr1567=)
|
|
|
NM_001369.3(DNAH5):c.4702del (p.Arg1568fs)
|
rs1554081658
|
|
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.4748C>A (p.Ala1583Asp)
|
|
|
NM_001369.3(DNAH5):c.4752C>T (p.Asn1584=)
|
|
|
NM_001369.3(DNAH5):c.4753A>G (p.Met1585Val)
|
rs1580641242
|
|
NM_001369.3(DNAH5):c.4761C>G (p.Asp1587Glu)
|
|
|
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.4786_4789del (p.Leu1596fs)
|
rs2151905556
|
|
NM_001369.3(DNAH5):c.4788G>A (p.Leu1596=)
|
rs2151905559
|
|
NM_001369.3(DNAH5):c.478C>T (p.Leu160=)
|
|
|
NM_001369.3(DNAH5):c.4792_4796+10del
|
|
|
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+1G>A
|
rs989235687
|
|
NM_001369.3(DNAH5):c.4796+7A>G
|
rs2151905538
|
|
NM_001369.3(DNAH5):c.47G>A (p.Arg16Gln)
|
|
|
NM_001369.3(DNAH5):c.480G>A (p.Leu160=)
|
rs2151995671
|
|
NM_001369.3(DNAH5):c.483C>T (p.Leu161=)
|
|
|
NM_001369.3(DNAH5):c.486C>T (p.Asn162=)
|
|
|
NM_001369.3(DNAH5):c.489T>C (p.Ser163=)
|
rs1580903831
|
|
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.4966del (p.Ser1656fs)
|
rs772381070
|
|
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.5024T>C (p.Val1675Ala)
|
rs2151883811
|
|
NM_001369.3(DNAH5):c.5031G>A (p.Gln1677=)
|
rs1766718203
|
|
NM_001369.3(DNAH5):c.5034C>T (p.Cys1678=)
|
|
|
NM_001369.3(DNAH5):c.5037T>A (p.Cys1679Ter)
|
rs1580578744
|
|
NM_001369.3(DNAH5):c.5045A>G (p.Asp1682Gly)
|
|
|
NM_001369.3(DNAH5):c.504G>C (p.Leu168=)
|
rs770818155
|
|
NM_001369.3(DNAH5):c.5050A>G (p.Thr1684Ala)
|
|
|
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.5059C>T (p.Gln1687Ter)
|
rs1188507108
|
|
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.5104_5106dup (p.Ser1702_Leu1703insSer)
|
|
|
NM_001369.3(DNAH5):c.5110A>G (p.Thr1704Ala)
|
|
|
NM_001369.3(DNAH5):c.5111C>A (p.Thr1704Asn)
|
rs1427029408
|
|
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.5114+1G>A
|
|
|
NM_001369.3(DNAH5):c.5115-12C>T
|
|
|
NM_001369.3(DNAH5):c.5115-14del
|
rs774650371
|
|
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.5118C>G (p.Tyr1706Ter)
|
rs1554074565
|
|
NM_001369.3(DNAH5):c.511A>G (p.Ile171Val)
|
|
|
NM_001369.3(DNAH5):c.5130A>C (p.Lys1710Asn)
|
|
|
NM_001369.3(DNAH5):c.5130dup (p.Arg1711fs)
|
rs1580543863
|
|
NM_001369.3(DNAH5):c.5131C>A (p.Arg1711=)
|
|
|
NM_001369.3(DNAH5):c.5131C>T (p.Arg1711Ter)
|
rs760869074
|
|
NM_001369.3(DNAH5):c.5135del (p.Leu1712fs)
|
|
|
NM_001369.3(DNAH5):c.5142T>C (p.Phe1714=)
|
rs2151870424
|
|
NM_001369.3(DNAH5):c.5147G>C (p.Arg1716Pro)
|
rs74799487
|
|
NM_001369.3(DNAH5):c.5147G>T (p.Arg1716Leu)
|
rs74799487
|
|
NM_001369.3(DNAH5):c.5154dup (p.Phe1719fs)
|
|
|
NM_001369.3(DNAH5):c.5160C>G (p.Val1720=)
|
|
|
NM_001369.3(DNAH5):c.5162C>G (p.Ser1721Ter)
|
rs1580543538
|
|
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.5195C>T (p.Ala1732Val)
|
|
|
NM_001369.3(DNAH5):c.5196G>A (p.Ala1732=)
|
|
|
NM_001369.3(DNAH5):c.5196G>C (p.Ala1732=)
|
rs201484389
|
|
NM_001369.3(DNAH5):c.5198C>A (p.Ser1733Ter)
|
rs146087064
|
|
NM_001369.3(DNAH5):c.5202del (p.Ser1735fs)
|
|
|
NM_001369.3(DNAH5):c.5206C>A (p.His1736Asn)
|
|
|
NM_001369.3(DNAH5):c.5209A>G (p.Thr1737Ala)
|
|
|
NM_001369.3(DNAH5):c.5212A>G (p.Ile1738Val)
|
|
|
NM_001369.3(DNAH5):c.5218G>T (p.Ala1740Ser)
|
|
|
NM_001369.3(DNAH5):c.5219C>T (p.Ala1740Val)
|
rs1554074458
|
|
NM_001369.3(DNAH5):c.5221del (p.His1741fs)
|
|
|
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.5244del (p.Asn1748fs)
|
rs2151870091
|
|
NM_001369.3(DNAH5):c.5245A>G (p.Ile1749Val)
|
rs1423005409
|
|
NM_001369.3(DNAH5):c.5246T>C (p.Ile1749Thr)
|
|
|
NM_001369.3(DNAH5):c.5246T>G (p.Ile1749Ser)
|
|
|
NM_001369.3(DNAH5):c.5252C>A (p.Ser1751Tyr)
|
rs2151870055
|
|
NM_001369.3(DNAH5):c.525T>C (p.Ala175=)
|
rs1326160674
|
|
NM_001369.3(DNAH5):c.5262C>G (p.Phe1754Leu)
|
rs1765751014
|
|
NM_001369.3(DNAH5):c.5266G>T (p.Glu1756Ter)
|
rs116524991
|
|
NM_001369.3(DNAH5):c.5268A>G (p.Glu1756=)
|
|
|
NM_001369.3(DNAH5):c.5271+11T>G
|
|
|
NM_001369.3(DNAH5):c.5271+16A>G
|
|
|
NM_001369.3(DNAH5):c.5271+1G>T
|
|
|
NM_001369.3(DNAH5):c.5271+5G>A
|
rs749394641
|
|
NM_001369.3(DNAH5):c.5271+8T>C
|
|
|
NM_001369.3(DNAH5):c.5271+9A>G
|
|
|
NM_001369.3(DNAH5):c.5271G>T (p.Lys1757Asn)
|
rs1293906490
|
|
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.5272-18T>C
|
|
|
NM_001369.3(DNAH5):c.5272-1G>A
|
|
|
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.5281C>T (p.Arg1761Ter)
|
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.5332C>G (p.Pro1778Ala)
|
rs1765209467
|
|
NM_001369.3(DNAH5):c.5338A>T (p.Met1780Leu)
|
rs369482173
|
|
NM_001369.3(DNAH5):c.5344del (p.Glu1782fs)
|
rs2151861909
|
|
NM_001369.3(DNAH5):c.5346G>A (p.Glu1782=)
|
|
|
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.5392T>C (p.Ser1798Pro)
|
rs1060501468
|
|
NM_001369.3(DNAH5):c.5399T>A (p.Leu1800Ter)
|
|
|
NM_001369.3(DNAH5):c.5399T>C (p.Leu1800Ser)
|
rs1580524265
|
|
NM_001369.3(DNAH5):c.5409G>A (p.Val1803=)
|
rs2151861778
|
|
NM_001369.3(DNAH5):c.540C>T (p.Ser180=)
|
rs2151995559
|
|
NM_001369.3(DNAH5):c.5424del (p.Ala1809fs)
|
|
|
NM_001369.3(DNAH5):c.5434del (p.Gln1812fs)
|
rs2151861729
|
|
NM_001369.3(DNAH5):c.5439A>T (p.Glu1813Asp)
|
rs754274080
|
|
NM_001369.3(DNAH5):c.5442A>G (p.Thr1814=)
|
|
|
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.5482C>T (p.Gln1828Ter)
|
rs1354919632
|
|
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.5485-1G>T
|
|
|
NM_001369.3(DNAH5):c.5485-2A>T
|
rs2151860622
|
|
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.54_57+5del
|
|
|
NM_001369.3(DNAH5):c.5509A>C (p.Ile1837Leu)
|
rs2151860552
|
|
NM_001369.3(DNAH5):c.5515A>G (p.Thr1839Ala)
|
|
|
NM_001369.3(DNAH5):c.5517A>G (p.Thr1839=)
|
|
|
NM_001369.3(DNAH5):c.5519G>A (p.Arg1840Gln)
|
|
|
NM_001369.3(DNAH5):c.552C>G (p.Gly184=)
|
|
|
NM_001369.3(DNAH5):c.552C>T (p.Gly184=)
|
|
|
NM_001369.3(DNAH5):c.5532dup (p.Ala1845fs)
|
rs2151860521
|
|
NM_001369.3(DNAH5):c.5539A>G (p.Arg1847Gly)
|
|
|
NM_001369.3(DNAH5):c.5553T>G (p.Phe1851Leu)
|
|
|
NM_001369.3(DNAH5):c.5563dup (p.Ile1855fs)
|
rs752925056
|
|
NM_001369.3(DNAH5):c.5566A>G (p.Met1856Val)
|
|
|
NM_001369.3(DNAH5):c.556C>A (p.Leu186Ile)
|
rs1554104341
|
|
NM_001369.3(DNAH5):c.5576_5582dup (p.Gln1861delinsHisTer)
|
rs2151860358
|
|
NM_001369.3(DNAH5):c.5577T>G (p.Thr1859=)
|
rs2151860373
|
|
NM_001369.3(DNAH5):c.5582A>C (p.Gln1861Pro)
|
rs780320440
|
|
NM_001369.3(DNAH5):c.5583G>T (p.Gln1861His)
|
|
|
NM_001369.3(DNAH5):c.5588del (p.Phe1863fs)
|
rs2151860332
|
|
NM_001369.3(DNAH5):c.558C>A (p.Leu186=)
|
rs145895917
|
|
NM_001369.3(DNAH5):c.5598A>G (p.Leu1866=)
|
|
|
NM_001369.3(DNAH5):c.559G>A (p.Glu187Lys)
|
|
|
NM_001369.3(DNAH5):c.559G>T (p.Glu187Ter)
|
rs759059925
|
|
NM_001369.3(DNAH5):c.5601C>T (p.Leu1867=)
|
rs2151860302
|
|
NM_001369.3(DNAH5):c.5601_5604dup (p.Thr1869fs)
|
|
|
NM_001369.3(DNAH5):c.5604T>C (p.Asn1868=)
|
|
|
NM_001369.3(DNAH5):c.5606C>T (p.Thr1869Ile)
|
|
|
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.561G>C (p.Glu187Asp)
|
|
|
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.5658C>G (p.Tyr1886Ter)
|
rs6880264
|
|
NM_001369.3(DNAH5):c.5659G>T (p.Glu1887Ter)
|
|
|
NM_001369.3(DNAH5):c.5660A>G (p.Glu1887Gly)
|
|
|
NM_001369.3(DNAH5):c.5665_5666del (p.Leu1889fs)
|
rs767779749
|
|
NM_001369.3(DNAH5):c.566T>C (p.Leu189Pro)
|
rs1777384254
|
|
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.5710-6T>A
|
|
|
NM_001369.3(DNAH5):c.5710-7A>T
|
|
|
NM_001369.3(DNAH5):c.5710T>C (p.Cys1904Arg)
|
|
|
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.5729G>A (p.Ser1910Asn)
|
|
|
NM_001369.3(DNAH5):c.5735T>C (p.Met1912Thr)
|
|
|
NM_001369.3(DNAH5):c.5745G>T (p.Glu1915Asp)
|
|
|
NM_001369.3(DNAH5):c.5754A>G (p.Lys1918=)
|
rs1213228715
|
|
NM_001369.3(DNAH5):c.5769C>G (p.Tyr1923Ter)
|
rs2151857318
|
|
NM_001369.3(DNAH5):c.5775C>T (p.Asn1925=)
|
rs112389411
|
|
NM_001369.3(DNAH5):c.5778A>G (p.Glu1926=)
|
|
|
NM_001369.3(DNAH5):c.5785G>C (p.Asp1929His)
|
rs1554072085
|
|
NM_001369.3(DNAH5):c.5787C>T (p.Asp1929=)
|
rs2151857268
|
|
NM_001369.3(DNAH5):c.5790GAT[2] (p.Met1932del)
|
|
|
NM_001369.3(DNAH5):c.57G>T (p.Thr19=)
|
rs142969794
|
|
NM_001369.3(DNAH5):c.57_57+1delinsAA
|
rs1560984816
|
|
NM_001369.3(DNAH5):c.58-12C>G
|
|
|
NM_001369.3(DNAH5):c.58-1G>A
|
rs1778386695
|
|
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.5814G>A (p.Val1938=)
|
rs1580512154
|
|
NM_001369.3(DNAH5):c.5816C>T (p.Ala1939Val)
|
|
|
NM_001369.3(DNAH5):c.581del (p.Asn194fs)
|
|
|
NM_001369.3(DNAH5):c.5821A>G (p.Ile1941Val)
|
rs754033261
|
|
NM_001369.3(DNAH5):c.5821A>T (p.Ile1941Leu)
|
|
|
NM_001369.3(DNAH5):c.5827C>T (p.Gln1943Ter)
|
rs2151857133
|
|
NM_001369.3(DNAH5):c.5829G>A (p.Gln1943=)
|
rs2151857128
|
|
NM_001369.3(DNAH5):c.582C>T (p.Asn194=)
|
rs2151995460
|
|
NM_001369.3(DNAH5):c.5838T>C (p.Phe1946=)
|
rs2151857094
|
|
NM_001369.3(DNAH5):c.5844C>T (p.Gly1948=)
|
rs2151857081
|
|
NM_001369.3(DNAH5):c.5846G>A (p.Cys1949Tyr)
|
|
|
NM_001369.3(DNAH5):c.5853C>T (p.Asp1951=)
|
rs1475309331
|
|
NM_001369.3(DNAH5):c.585T>A (p.Ile195=)
|
|
|
NM_001369.3(DNAH5):c.5866dup (p.Thr1956fs)
|
|
|
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.5881dup (p.Arg1961fs)
|
rs1554072027
|
|
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.5883-1G>C
|
rs1195745037
|
|
NM_001369.3(DNAH5):c.5883-2A>C
|
rs1580465796
|
|
NM_001369.3(DNAH5):c.5883-2A>G
|
rs1580465796
|
|
NM_001369.3(DNAH5):c.5883-6del
|
rs2151838387
|
|
NM_001369.3(DNAH5):c.5883-9C>A
|
rs1404707187
|
|
NM_001369.3(DNAH5):c.5885G>A (p.Cys1962Tyr)
|
|
|
NM_001369.3(DNAH5):c.5889C>T (p.Tyr1963=)
|
rs2151838342
|
|
NM_001369.3(DNAH5):c.5890_5894dup (p.Leu1966fs)
|
rs1436141222
|
|
NM_001369.3(DNAH5):c.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.5918G>A (p.Ser1973Asn)
|
|
|
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.5926G>T (p.Gly1976Ter)
|
rs751690064
|
|
NM_001369.3(DNAH5):c.5927del (p.Gly1976fs)
|
|
|
NM_001369.3(DNAH5):c.5928A>T (p.Gly1976=)
|
rs1172789153
|
|
NM_001369.3(DNAH5):c.5928del (p.Ala1977fs)
|
|
|
NM_001369.3(DNAH5):c.5937T>G (p.Ala1979=)
|
|
|
NM_001369.3(DNAH5):c.5953_5954del (p.Gly1985fs)
|
rs2151838095
|
|
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.5987_5998del (p.Cys1996_Lys1999del)
|
|
|
NM_001369.3(DNAH5):c.5989C>T (p.Leu1997Phe)
|
|
|
NM_001369.3(DNAH5):c.5994G>C (p.Gly1998=)
|
rs1171499406
|
|
NM_001369.3(DNAH5):c.5997A>G (p.Lys1999=)
|
|
|
NM_001369.3(DNAH5):c.5999dup (p.Tyr2000Ter)
|
rs1372787085
|
|
NM_001369.3(DNAH5):c.599T>G (p.Leu200Trp)
|
|
|
NM_001369.3(DNAH5):c.6000C>A (p.Tyr2000Ter)
|
rs773208371
|
|
NM_001369.3(DNAH5):c.6001G>A (p.Val2001Ile)
|
|
|
NM_001369.3(DNAH5):c.6001G>T (p.Val2001Phe)
|
|
|
NM_001369.3(DNAH5):c.6003C>G (p.Val2001=)
|
rs372754085
|
|
NM_001369.3(DNAH5):c.6012C>T (p.Phe2004=)
|
|
|
NM_001369.3(DNAH5):c.6014A>G (p.Asn2005Ser)
|
rs1375968864
|
|
NM_001369.3(DNAH5):c.6021A>G (p.Ser2007=)
|
rs758505863
|
|
NM_001369.3(DNAH5):c.6025C>T (p.Gln2009Ter)
|
|
|
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.6037C>T (p.Arg2013Ter)
|
rs1273352530
|
|
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.6044T>C (p.Leu2015Pro)
|
|
|
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+1G>A
|
|
|
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.6070C>A (p.Gln2024Lys)
|
rs989184330
|
|
NM_001369.3(DNAH5):c.6072G>A (p.Gln2024=)
|
|
|
NM_001369.3(DNAH5):c.6086G>T (p.Gly2029Val)
|
rs1763454468
|
|
NM_001369.3(DNAH5):c.6088T>G (p.Cys2030Gly)
|
rs1763453207
|
|
NM_001369.3(DNAH5):c.609G>A (p.Leu203=)
|
rs2151995419
|
|
NM_001369.3(DNAH5):c.609G>T (p.Leu203=)
|
|
|
NM_001369.3(DNAH5):c.6107G>T (p.Arg2036Leu)
|
rs760502991
|
|
NM_001369.3(DNAH5):c.6114T>C (p.Asp2038=)
|
rs772306307
|
|
NM_001369.3(DNAH5):c.6117A>G (p.Leu2039=)
|
rs1561373685
|
|
NM_001369.3(DNAH5):c.6120A>G (p.Pro2040=)
|
rs1763443730
|
|
NM_001369.3(DNAH5):c.6126C>T (p.Leu2042=)
|
rs1763441290
|
|
NM_001369.3(DNAH5):c.6129G>A (p.Ser2043=)
|
rs141459197
|
|
NM_001369.3(DNAH5):c.6129G>C (p.Ser2043=)
|
rs141459197
|
|
NM_001369.3(DNAH5):c.6132del (p.Ala2045fs)
|
|
|
NM_001369.3(DNAH5):c.6135A>G (p.Ala2045=)
|
|
|
NM_001369.3(DNAH5):c.6165T>A (p.Cys2055Ter)
|
|
|
NM_001369.3(DNAH5):c.6173A>G (p.Glu2058Gly)
|
|
|
NM_001369.3(DNAH5):c.6173del (p.Glu2058fs)
|
|
|
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.6249+4A>T
|
rs1554067648
|
|
NM_001369.3(DNAH5):c.624C>G (p.Asn208Lys)
|
rs139640247
|
|
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.6250-2A>G
|
rs2151835519
|
|
NM_001369.3(DNAH5):c.6250-3del
|
rs2151835529
|
|
NM_001369.3(DNAH5):c.6250-9T>C
|
rs1763383856
|
|
NM_001369.3(DNAH5):c.6255T>C (p.Pro2085=)
|
rs2151835512
|
|
NM_001369.3(DNAH5):c.625G>A (p.Val209Ile)
|
|
|
NM_001369.3(DNAH5):c.6261T>G (p.Tyr2087Ter)
|
|
|
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.628del (p.Leu210fs)
|
|
|
NM_001369.3(DNAH5):c.6291G>A (p.Leu2097=)
|
|
|
NM_001369.3(DNAH5):c.6293del (p.Lys2098fs)
|
rs1060501461
|
|
NM_001369.3(DNAH5):c.6297T>A (p.Ile2099=)
|
rs1763374034
|
|
NM_001369.3(DNAH5):c.6307T>C (p.Ser2103Pro)
|
|
|
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.6325C>T (p.Pro2109Ser)
|
|
|
NM_001369.3(DNAH5):c.6332G>A (p.Arg2111His)
|
|
|
NM_001369.3(DNAH5):c.6343A>G (p.Ile2115Val)
|
|
|
NM_001369.3(DNAH5):c.6343del (p.Ile2114_Ile2115insTer)
|
rs1474945018
|
|
NM_001369.3(DNAH5):c.6347G>A (p.Arg2116Lys)
|
|
|
NM_001369.3(DNAH5):c.6348G>A (p.Arg2116=)
|
|
|
NM_001369.3(DNAH5):c.6349G>T (p.Val2117Leu)
|
rs1763365674
|
|
NM_001369.3(DNAH5):c.6351G>C (p.Val2117=)
|
|
|
NM_001369.3(DNAH5):c.6355T>A (p.Leu2119Met)
|
|
|
NM_001369.3(DNAH5):c.6356T>A (p.Leu2119Ter)
|
|
|
NM_001369.3(DNAH5):c.6357G>A (p.Leu2119=)
|
|
|
NM_001369.3(DNAH5):c.6363T>C (p.Ser2121=)
|
|
|
NM_001369.3(DNAH5):c.6368del (p.Gly2123fs)
|
rs2151835119
|
|
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.640C>T (p.Gln214Ter)
|
|
|
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.6423_6424del (p.Cys2141_Glu2142delinsTer)
|
rs1580457416
|
|
NM_001369.3(DNAH5):c.6427G>T (p.Glu2143Ter)
|
rs1064795496
|
|
NM_001369.3(DNAH5):c.6428A>T (p.Glu2143Val)
|
|
|
NM_001369.3(DNAH5):c.642G>A (p.Gln214=)
|
rs746390393
|
|
NM_001369.3(DNAH5):c.6430C>T (p.Gln2144Ter)
|
|
|
NM_001369.3(DNAH5):c.6438T>C (p.Ser2146=)
|
|
|
NM_001369.3(DNAH5):c.6442C>T (p.Gln2148Ter)
|
rs777303718
|
|
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.6445-2A>G
|
rs1309120344
|
|
NM_001369.3(DNAH5):c.6445-4C>G
|
|
|
NM_001369.3(DNAH5):c.6445-5T>C
|
rs2151824083
|
|
NM_001369.3(DNAH5):c.6453T>A (p.Tyr2151Ter)
|
rs2151824052
|
|
NM_001369.3(DNAH5):c.6462C>A (p.Gly2154=)
|
|
|
NM_001369.3(DNAH5):c.6465G>A (p.Leu2155=)
|
rs1436835343
|
|
NM_001369.3(DNAH5):c.6466C>T (p.Arg2156Cys)
|
|
|
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.6483del (p.Leu2162fs)
|
|
|
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.6494T>A (p.Leu2165Ter)
|
|
|
NM_001369.3(DNAH5):c.64C>T (p.Leu22=)
|
rs2152009037
|
|
NM_001369.3(DNAH5):c.6501A>G (p.Ala2167=)
|
|
|
NM_001369.3(DNAH5):c.6508dup (p.Arg2170fs)
|
rs878854458
|
|
NM_001369.3(DNAH5):c.6510A>G (p.Arg2170=)
|
rs768106523
|
|
NM_001369.3(DNAH5):c.6517C>G (p.Pro2173Ala)
|
|
|
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.655G>T (p.Glu219Ter)
|
|
|
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.6580-1G>T
|
|
|
NM_001369.3(DNAH5):c.6580-20T>G
|
|
|
NM_001369.3(DNAH5):c.6580-3del
|
|
|
NM_001369.3(DNAH5):c.6580-9T>G
|
rs2151821541
|
|
NM_001369.3(DNAH5):c.6580-9dup
|
rs745608527
|
|
NM_001369.3(DNAH5):c.6580A>G (p.Ile2194Val)
|
|
|
NM_001369.3(DNAH5):c.6581T>C (p.Ile2194Thr)
|
rs755113058
|
|
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.6605del (p.Phe2201_Leu2202insTer)
|
rs1762470883
|
|
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.6611del (p.Ser2203_Leu2204insTer)
|
|
|
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.6650C>A (p.Ala2217Glu)
|
rs748338986
|
|
NM_001369.3(DNAH5):c.6651A>G (p.Ala2217=)
|
|
|
NM_001369.3(DNAH5):c.6658C>A (p.Pro2220Thr)
|
rs2151821296
|
|
NM_001369.3(DNAH5):c.6661G>A (p.Glu2221Lys)
|
|
|
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.6681T>A (p.Ser2227Arg)
|
|
|
NM_001369.3(DNAH5):c.6682A>C (p.Arg2228=)
|
rs1762460445
|
|
NM_001369.3(DNAH5):c.6682A>T (p.Arg2228Ter)
|
rs1762460445
|
|
NM_001369.3(DNAH5):c.6687+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.670C>T (p.Arg224Ter)
|
rs771463510
|
|
NM_001369.3(DNAH5):c.6710A>G (p.Asn2237Ser)
|
|
|
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.6739C>T (p.Gln2247Ter)
|
rs2151814430
|
|
NM_001369.3(DNAH5):c.6754C>T (p.Gln2252Ter)
|
|
|
NM_001369.3(DNAH5):c.6756G>A (p.Gln2252=)
|
|
|
NM_001369.3(DNAH5):c.6757A>C (p.Arg2253=)
|
|
|
NM_001369.3(DNAH5):c.6757A>T (p.Arg2253Ter)
|
rs2151814381
|
|
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.676T>C (p.Cys226Arg)
|
|
|
NM_001369.3(DNAH5):c.677del (p.Cys226fs)
|
|
|
NM_001369.3(DNAH5):c.6789_6790inv (p.Ser2264Gly)
|
|
|
NM_001369.3(DNAH5):c.6790A>G (p.Ser2264Gly)
|
|
|
NM_001369.3(DNAH5):c.6793_6809del (p.Gly2265fs)
|
rs2151814193
|
|
NM_001369.3(DNAH5):c.6796G>A (p.Ala2266Thr)
|
rs1023849945
|
|
NM_001369.3(DNAH5):c.6801G>C (p.Gly2267=)
|
|
|
NM_001369.3(DNAH5):c.6804del (p.Thr2269fs)
|
rs2151814213
|
|
NM_001369.3(DNAH5):c.6807C>T (p.Thr2269=)
|
rs2151814199
|
|
NM_001369.3(DNAH5):c.6815_6818dup (p.Thr2274fs)
|
|
|
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.6839C>T (p.Thr2280Ile)
|
|
|
NM_001369.3(DNAH5):c.6841+16G>A
|
|
|
NM_001369.3(DNAH5):c.6841+1G>A
|
|
|
NM_001369.3(DNAH5):c.6841+1G>C
|
rs2151814082
|
|
NM_001369.3(DNAH5):c.6841+8G>A
|
rs775306219
|
|
NM_001369.3(DNAH5):c.6841+9C>A
|
|
|
NM_001369.3(DNAH5):c.6842-14T>C
|
|
|
NM_001369.3(DNAH5):c.6842-16G>T
|
|
|
NM_001369.3(DNAH5):c.6843T>C (p.Asp2281=)
|
rs767314487
|
|
NM_001369.3(DNAH5):c.6844del (p.Cys2282fs)
|
rs1489564718
|
|
NM_001369.3(DNAH5):c.6849A>G (p.Gly2283=)
|
rs774606797
|
|
NM_001369.3(DNAH5):c.6860G>A (p.Arg2287Gln)
|
|
|
NM_001369.3(DNAH5):c.6864A>G (p.Glu2288=)
|
|
|
NM_001369.3(DNAH5):c.6879C>T (p.Pro2293=)
|
rs1313742038
|
|
NM_001369.3(DNAH5):c.6884C>G (p.Ala2295Gly)
|
rs368441809
|
|
NM_001369.3(DNAH5):c.6884C>T (p.Ala2295Val)
|
rs368441809
|
|
NM_001369.3(DNAH5):c.6885G>C (p.Ala2295=)
|
rs762437869
|
|
NM_001369.3(DNAH5):c.6898C>T (p.Gln2300Ter)
|
|
|
NM_001369.3(DNAH5):c.68A>G (p.Lys23Arg)
|
|
|
NM_001369.3(DNAH5):c.6900G>A (p.Gln2300=)
|
rs745471071
|
|
NM_001369.3(DNAH5):c.6902_6917del (p.Met2301fs)
|
|
|
NM_001369.3(DNAH5):c.6905T>G (p.Phe2302Cys)
|
|
|
NM_001369.3(DNAH5):c.6906T>C (p.Phe2302=)
|
|
|
NM_001369.3(DNAH5):c.6908G>C (p.Gly2303Ala)
|
|
|
NM_001369.3(DNAH5):c.6908G>T (p.Gly2303Val)
|
rs1580399696
|
|
NM_001369.3(DNAH5):c.6910C>A (p.Arg2304=)
|
rs537125100
|
|
NM_001369.3(DNAH5):c.6910C>T (p.Arg2304Trp)
|
|
|
NM_001369.3(DNAH5):c.6925A>C (p.Thr2309Pro)
|
rs1761613337
|
|
NM_001369.3(DNAH5):c.6932_6935del (p.Asp2311fs)
|
rs1554062097
|
|
NM_001369.3(DNAH5):c.6942T>C (p.Asp2314=)
|
|
|
NM_001369.3(DNAH5):c.694A>T (p.Lys232Ter)
|
|
|
NM_001369.3(DNAH5):c.6962G>A (p.Trp2321Ter)
|
rs2151807051
|
|
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+2T>C
|
rs2151806960
|
|
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.6989-9del
|
|
|
NM_001369.3(DNAH5):c.698C>G (p.Thr233Ser)
|
|
|
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.7000T>C (p.Trp2334Arg)
|
|
|
NM_001369.3(DNAH5):c.7011T>C (p.Leu2337=)
|
rs2151800755
|
|
NM_001369.3(DNAH5):c.7012G>C (p.Asp2338His)
|
rs2151800746
|
|
NM_001369.3(DNAH5):c.7018C>A (p.Pro2340Thr)
|
|
|
NM_001369.3(DNAH5):c.7023A>G (p.Val2341=)
|
rs2151800727
|
|
NM_001369.3(DNAH5):c.7027G>T (p.Ala2343Ser)
|
|
|
NM_001369.3(DNAH5):c.7034G>A (p.Trp2345Ter)
|
rs755596256
|
|
NM_001369.3(DNAH5):c.7044T>C (p.Asn2348=)
|
rs2151800646
|
|
NM_001369.3(DNAH5):c.705G>A (p.Lys235=)
|
|
|
NM_001369.3(DNAH5):c.7065_7066insTT (p.Asn2356fs)
|
rs2151800607
|
|
NM_001369.3(DNAH5):c.7075C>T (p.Leu2359=)
|
rs2151800596
|
|
NM_001369.3(DNAH5):c.7080C>T (p.Thr2360=)
|
rs2151800576
|
|
NM_001369.3(DNAH5):c.7089T>C (p.Asn2363=)
|
rs547828965
|
|
NM_001369.3(DNAH5):c.7097G>A (p.Arg2366Gln)
|
|
|
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.713C>T (p.Thr238Met)
|
|
|
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.717_729del (p.Asp239fs)
|
rs2151992688
|
|
NM_001369.3(DNAH5):c.7200T>G (p.Ser2400=)
|
rs2151800106
|
|
NM_001369.3(DNAH5):c.7204A>C (p.Ile2402Leu)
|
rs1368779884
|
|
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.7230G>C (p.Glu2410Asp)
|
|
|
NM_001369.3(DNAH5):c.7231-11_7242del
|
|
|
NM_001369.3(DNAH5):c.7231-5G>T
|
rs2127027842
|
|
NM_001369.3(DNAH5):c.7231-6del
|
|
|
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.7276C>T (p.Gln2426Ter)
|
rs1760754570
|
|
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.7288G>T (p.Glu2430Ter)
|
rs575491117
|
|
NM_001369.3(DNAH5):c.7288dup (p.Glu2430fs)
|
|
|
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.7309C>T (p.Arg2437Cys)
|
|
|
NM_001369.3(DNAH5):c.7310G>A (p.Arg2437His)
|
|
|
NM_001369.3(DNAH5):c.7320C>T (p.Ile2440=)
|
|
|
NM_001369.3(DNAH5):c.7325del (p.Asn2442fs)
|
|
|
NM_001369.3(DNAH5):c.7335C>T (p.Tyr2445=)
|
rs2127026828
|
|
NM_001369.3(DNAH5):c.7335_7336del (p.Tyr2445_Lys2446delinsTer)
|
|
|
NM_001369.3(DNAH5):c.7340dup (p.Met2447fs)
|
rs2127026775
|
|
NM_001369.3(DNAH5):c.734A>G (p.Asn245Ser)
|
rs2151992686
|
|
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.7365dup (p.Thr2456fs)
|
rs2127026526
|
|
NM_001369.3(DNAH5):c.7369C>T (p.Gln2457Ter)
|
rs2127026486
|
|
NM_001369.3(DNAH5):c.7380C>T (p.Asn2460=)
|
|
|
NM_001369.3(DNAH5):c.7381A>G (p.Met2461Val)
|
|
|
NM_001369.3(DNAH5):c.7385T>A (p.Leu2462His)
|
rs1554059594
|
|
NM_001369.3(DNAH5):c.7390G>A (p.Gly2464Ser)
|
rs112103817
|
|
NM_001369.3(DNAH5):c.7391G>A (p.Gly2464Asp)
|
|
|
NM_001369.3(DNAH5):c.7391G>T (p.Gly2464Val)
|
|
|
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+1G>A
|
rs749711805
|
|
NM_001369.3(DNAH5):c.7407+4A>C
|
|
|
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.7408-18del
|
|
|
NM_001369.3(DNAH5):c.7408-18dup
|
|
|
NM_001369.3(DNAH5):c.7408-1G>A
|
|
|
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.7420G>T (p.Glu2474Ter)
|
|
|
NM_001369.3(DNAH5):c.7422G>A (p.Glu2474=)
|
rs1471304675
|
|
NM_001369.3(DNAH5):c.7430A>G (p.Gln2477Arg)
|
|
|
NM_001369.3(DNAH5):c.7436_7450delinsC (p.His2479fs)
|
rs1580363231
|
|
NM_001369.3(DNAH5):c.7437_7450del (p.Leu2480fs)
|
rs2127015228
|
|
NM_001369.3(DNAH5):c.7444C>T (p.Arg2482Trp)
|
rs1355327016
|
|
NM_001369.3(DNAH5):c.7446G>A (p.Arg2482=)
|
rs760905001
|
|
NM_001369.3(DNAH5):c.7452C>G (p.Phe2484Leu)
|
rs561666802
|
|
NM_001369.3(DNAH5):c.7452C>T (p.Phe2484=)
|
rs561666802
|
|
NM_001369.3(DNAH5):c.7455G>T (p.Val2485=)
|
|
|
NM_001369.3(DNAH5):c.7455_7456dup (p.Phe2486fs)
|
rs2127015093
|
|
NM_001369.3(DNAH5):c.7458C>T (p.Phe2486=)
|
rs1554058794
|
|
NM_001369.3(DNAH5):c.7459G>A (p.Ala2487Thr)
|
|
|
NM_001369.3(DNAH5):c.7461G>T (p.Ala2487=)
|
|
|
NM_001369.3(DNAH5):c.7469G>A (p.Trp2490Ter)
|
|
|
NM_001369.3(DNAH5):c.7475dup (p.Ala2494fs)
|
|
|
NM_001369.3(DNAH5):c.7476G>A (p.Ala2492=)
|
|
|
NM_001369.3(DNAH5):c.7478_7500del (p.Gly2493fs)
|
rs2127014587
|
|
NM_001369.3(DNAH5):c.7480dup (p.Ala2494fs)
|
rs1760421077
|
|
NM_001369.3(DNAH5):c.7481C>A (p.Ala2494Glu)
|
rs1428862297
|
|
NM_001369.3(DNAH5):c.7482G>A (p.Ala2494=)
|
|
|
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.7500_7503del (p.Arg2501fs)
|
rs1465499923
|
|
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.7514A>T (p.Glu2505Val)
|
|
|
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.7526_7527dup (p.Ser2510fs)
|
rs2127014143
|
|
NM_001369.3(DNAH5):c.7527C>T (p.Arg2509=)
|
rs2127014131
|
|
NM_001369.3(DNAH5):c.7531C>G (p.Arg2511Gly)
|
rs564040169
|
|
NM_001369.3(DNAH5):c.7534C>G (p.Pro2512Ala)
|
rs1760398139
|
|
NM_001369.3(DNAH5):c.7535C>G (p.Pro2512Arg)
|
|
|
NM_001369.3(DNAH5):c.7536dup (p.Thr2513fs)
|
|
|
NM_001369.3(DNAH5):c.7540_7543dup (p.Thr2515fs)
|
rs1196559591
|
|
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.7554_7578dup (p.Thr2527fs)
|
rs2127013208
|
|
NM_001369.3(DNAH5):c.7556C>T (p.Pro2519Leu)
|
|
|
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.7579_7590del (p.Thr2527_Asp2530del)
|
rs1554058577
|
|
NM_001369.3(DNAH5):c.7581C>G (p.Thr2527=)
|
rs1047174806
|
|
NM_001369.3(DNAH5):c.7581C>T (p.Thr2527=)
|
rs1047174806
|
|
NM_001369.3(DNAH5):c.7587C>T (p.Phe2529=)
|
|
|
NM_001369.3(DNAH5):c.7593C>T (p.Tyr2531=)
|
|
|
NM_001369.3(DNAH5):c.7596T>A (p.Tyr2532Ter)
|
|
|
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.759A>G (p.Ile253Met)
|
|
|
NM_001369.3(DNAH5):c.7601C>T (p.Ala2534Val)
|
|
|
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.7610-1G>A
|
|
|
NM_001369.3(DNAH5):c.7610-20A>T
|
|
|
NM_001369.3(DNAH5):c.7610-5C>T
|
rs1580357237
|
|
NM_001369.3(DNAH5):c.7612A>G (p.Thr2538Ala)
|
rs1340645369
|
|
NM_001369.3(DNAH5):c.7614A>C (p.Thr2538=)
|
rs756112960
|
|
NM_001369.3(DNAH5):c.7614A>G (p.Thr2538=)
|
|
|
NM_001369.3(DNAH5):c.7614A>T (p.Thr2538=)
|
rs756112960
|
|
NM_001369.3(DNAH5):c.7616G>A (p.Trp2539Ter)
|
rs2127007326
|
|
NM_001369.3(DNAH5):c.7619C>T (p.Thr2540Met)
|
|
|
NM_001369.3(DNAH5):c.7625G>A (p.Trp2542Ter)
|
|
|
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.7634G>A (p.Arg2545His)
|
|
|
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>G (p.Tyr2549Ter)
|
|
|
NM_001369.3(DNAH5):c.7647C>T (p.Tyr2549=)
|
|
|
NM_001369.3(DNAH5):c.7650G>C (p.Leu2550=)
|
|
|
NM_001369.3(DNAH5):c.7651dup (p.Tyr2551fs)
|
|
|
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.7679G>A (p.Gly2560Asp)
|
rs1554058022
|
|
NM_001369.3(DNAH5):c.7683T>C (p.Ser2561=)
|
|
|
NM_001369.3(DNAH5):c.7687C>T (p.Leu2563=)
|
|
|
NM_001369.3(DNAH5):c.768C>A (p.Cys256Ter)
|
rs2151992604
|
|
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.770T>C (p.Met257Thr)
|
rs771377608
|
|
NM_001369.3(DNAH5):c.7717dup (p.Asp2573fs)
|
|
|
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.7742A>G (p.Lys2581Arg)
|
rs1279883936
|
|
NM_001369.3(DNAH5):c.7746G>A (p.Gln2582=)
|
rs1396143112
|
|
NM_001369.3(DNAH5):c.774A>G (p.Lys258=)
|
rs1580893288
|
|
NM_001369.3(DNAH5):c.774dup (p.Val259fs)
|
|
|
NM_001369.3(DNAH5):c.7752+11T>C
|
|
|
NM_001369.3(DNAH5):c.7752+14T>C
|
|
|
NM_001369.3(DNAH5):c.7752+18dup
|
|
|
NM_001369.3(DNAH5):c.7752G>A (p.Lys2584=)
|
|
|
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.7753-19del
|
rs369652511
|
|
NM_001369.3(DNAH5):c.7753-19dup
|
rs369652511
|
|
NM_001369.3(DNAH5):c.7753-1G>T
|
|
|
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.7805G>A (p.Gly2602Glu)
|
|
|
NM_001369.3(DNAH5):c.7806A>T (p.Gly2602=)
|
|
|
NM_001369.3(DNAH5):c.7810A>T (p.Met2604Leu)
|
|
|
NM_001369.3(DNAH5):c.7821T>G (p.Tyr2607Ter)
|
rs2126996872
|
|
NM_001369.3(DNAH5):c.7830A>G (p.Glu2610=)
|
rs1446485303
|
|
NM_001369.3(DNAH5):c.7858del (p.Ser2620fs)
|
rs2126996545
|
|
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.7888-1G>A
|
rs767603357
|
|
NM_001369.3(DNAH5):c.7888-6del
|
rs745582136
|
|
NM_001369.3(DNAH5):c.7888-6dup
|
rs745582136
|
|
NM_001369.3(DNAH5):c.7888-7T>C
|
rs2126914507
|
|
NM_001369.3(DNAH5):c.7888-8T>G
|
|
|
NM_001369.3(DNAH5):c.7890G>A (p.Arg2630=)
|
rs2126914337
|
|
NM_001369.3(DNAH5):c.7893G>T (p.Thr2631=)
|
|
|
NM_001369.3(DNAH5):c.7898_7901del (p.Glu2633fs)
|
rs1443540935
|
|
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.7914dup (p.Arg2639fs)
|
rs749082955
|
|
NM_001369.3(DNAH5):c.791_794del (p.Thr264fs)
|
rs1391084505
|
|
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.793G>A (p.Glu265Lys)
|
|
|
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.798+1G>A
|
|
|
NM_001369.3(DNAH5):c.798+2dup
|
rs1777130854
|
|
NM_001369.3(DNAH5):c.7985C>G (p.Pro2662Arg)
|
rs981622980
|
|
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.799-13del
|
|
|
NM_001369.3(DNAH5):c.799-13dup
|
|
|
NM_001369.3(DNAH5):c.799-15C>T
|
|
|
NM_001369.3(DNAH5):c.799-16C>T
|
|
|
NM_001369.3(DNAH5):c.799-17del
|
|
|
NM_001369.3(DNAH5):c.799-18T>C
|
|
|
NM_001369.3(DNAH5):c.799-269_1072del
|
|
|
NM_001369.3(DNAH5):c.799-4G>A
|
|
|
NM_001369.3(DNAH5):c.7992C>T (p.Ile2664=)
|
|
|
NM_001369.3(DNAH5):c.7992del (p.Asn2665fs)
|
rs2126913378
|
|
NM_001369.3(DNAH5):c.7994A>G (p.Asn2665Ser)
|
rs774224537
|
|
NM_001369.3(DNAH5):c.7998G>A (p.Glu2666=)
|
|
|
NM_001369.3(DNAH5):c.7A>C (p.Arg3=)
|
|
|
NM_001369.3(DNAH5):c.8000G>A (p.Trp2667Ter)
|
rs1757433662
|
|
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+2T>C
|
|
|
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.8015C>T (p.Thr2672Met)
|
rs1358728493
|
|
NM_001369.3(DNAH5):c.8016G>T (p.Thr2672=)
|
|
|
NM_001369.3(DNAH5):c.8024_8025dup (p.Val2676Ter)
|
rs1060501459
|
|
NM_001369.3(DNAH5):c.8030G>C (p.Arg2677Pro)
|
|
|
NM_001369.3(DNAH5):c.8032C>T (p.Gln2678Ter)
|
rs988596344
|
|
NM_001369.3(DNAH5):c.8043A>C (p.Glu2681Asp)
|
|
|
NM_001369.3(DNAH5):c.8044C>T (p.Gln2682Ter)
|
|
|
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.8077G>A (p.Glu2693Lys)
|
rs1757368494
|
|
NM_001369.3(DNAH5):c.8080T>G (p.Phe2694Val)
|
|
|
NM_001369.3(DNAH5):c.8086A>G (p.Ser2696Gly)
|
|
|
NM_001369.3(DNAH5):c.8092G>A (p.Val2698Met)
|
|
|
NM_001369.3(DNAH5):c.8092_8097del (p.Val2698_Asp2699del)
|
rs1757363484
|
|
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.8122C>T (p.His2708Tyr)
|
|
|
NM_001369.3(DNAH5):c.8126C>T (p.Pro2709Leu)
|
|
|
NM_001369.3(DNAH5):c.8127T>C (p.Pro2709=)
|
rs1181593041
|
|
NM_001369.3(DNAH5):c.8132del (p.Gly2711fs)
|
|
|
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.8161_8162del (p.Lys2721fs)
|
|
|
NM_001369.3(DNAH5):c.8166G>A (p.Arg2722=)
|
rs2126910081
|
|
NM_001369.3(DNAH5):c.8167C>T (p.Gln2723Ter)
|
rs1309660408
|
|
NM_001369.3(DNAH5):c.8170T>A (p.Phe2724Ile)
|
rs753702337
|
|
NM_001369.3(DNAH5):c.8170T>C (p.Phe2724Leu)
|
|
|
NM_001369.3(DNAH5):c.8174C>G (p.Ser2725Cys)
|
|
|
NM_001369.3(DNAH5):c.8176A>G (p.Ile2726Val)
|
|
|
NM_001369.3(DNAH5):c.8181T>C (p.Phe2727=)
|
|
|
NM_001369.3(DNAH5):c.8189C>T (p.Thr2730Met)
|
|
|
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.8217G>C (p.Lys2739Asn)
|
rs375287005
|
|
NM_001369.3(DNAH5):c.8217_8218insCTTCTGTGG (p.Lys2739_Ile2740insLeuLeuTrp)
|
rs748140396
|
|
NM_001369.3(DNAH5):c.8221_8224+9del
|
|
|
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.8224+5A>G
|
|
|
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.8225-1G>A
|
|
|
NM_001369.3(DNAH5):c.8225-2A>G
|
rs2126901340
|
|
NM_001369.3(DNAH5):c.8225-6T>C
|
rs935438135
|
|
NM_001369.3(DNAH5):c.8225-6T>G
|
|
|
NM_001369.3(DNAH5):c.8225-8del
|
rs2126901397
|
|
NM_001369.3(DNAH5):c.8238A>G (p.Val2746=)
|
|
|
NM_001369.3(DNAH5):c.8246A>G (p.Tyr2749Cys)
|
rs1757110482
|
|
NM_001369.3(DNAH5):c.8250T>A (p.Cys2750Ter)
|
rs2126901167
|
|
NM_001369.3(DNAH5):c.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.8261G>T (p.Gly2754Val)
|
|
|
NM_001369.3(DNAH5):c.8272G>T (p.Glu2758Ter)
|
|
|
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.8311C>T (p.Arg2771Cys)
|
|
|
NM_001369.3(DNAH5):c.8312G>A (p.Arg2771His)
|
rs199643592
|
|
NM_001369.3(DNAH5):c.8316A>G (p.Arg2772=)
|
rs751595453
|
|
NM_001369.3(DNAH5):c.8319A>G (p.Leu2773=)
|
|
|
NM_001369.3(DNAH5):c.8321_8322insC (p.Trp2774fs)
|
rs1554050517
|
|
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.8341del (p.Met2781fs)
|
|
|
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.8385del (p.Asp2796fs)
|
rs1178766548
|
|
NM_001369.3(DNAH5):c.8386G>C (p.Asp2796His)
|
rs2126899976
|
|
NM_001369.3(DNAH5):c.8388T>C (p.Asp2796=)
|
rs1580265726
|
|
NM_001369.3(DNAH5):c.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.8410A>G (p.Met2804Val)
|
rs199629940
|
|
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.8449G>T (p.Asp2817Tyr)
|
rs745885469
|
|
NM_001369.3(DNAH5):c.8460G>A (p.Lys2820=)
|
rs779140703
|
|
NM_001369.3(DNAH5):c.8461C>T (p.Leu2821=)
|
|
|
NM_001369.3(DNAH5):c.8465G>A (p.Trp2822Ter)
|
rs1060501455
|
|
NM_001369.3(DNAH5):c.8469G>A (p.Lys2823=)
|
|
|
NM_001369.3(DNAH5):c.846G>T (p.Gly282=)
|
rs748702437
|
|
NM_001369.3(DNAH5):c.8477del (p.Cys2826fs)
|
|
|
NM_001369.3(DNAH5):c.8483G>A (p.Arg2828His)
|
|
|
NM_001369.3(DNAH5):c.8488dup (p.Ile2830fs)
|
|
|
NM_001369.3(DNAH5):c.8489_8490dup (p.Ala2831Ter)
|
rs2126882899
|
|
NM_001369.3(DNAH5):c.8496C>T (p.Asp2832=)
|
rs2126882852
|
|
NM_001369.3(DNAH5):c.8497C>A (p.Arg2833Ser)
|
|
|
NM_001369.3(DNAH5):c.849A>T (p.Pro283=)
|
rs1776999589
|
|
NM_001369.3(DNAH5):c.850C>T (p.Arg284Ter)
|
rs777361601
|
|
NM_001369.3(DNAH5):c.8528T>C (p.Phe2843Ser)
|
rs77377082
|
|
NM_001369.3(DNAH5):c.8530G>A (p.Asp2844Asn)
|
rs2126882668
|
|
NM_001369.3(DNAH5):c.8534dup (p.Ala2846fs)
|
|
|
NM_001369.3(DNAH5):c.8537C>T (p.Ala2846Val)
|
|
|
NM_001369.3(DNAH5):c.8544A>C (p.Val2848=)
|
|
|
NM_001369.3(DNAH5):c.854C>G (p.Ala285Gly)
|
|
|
NM_001369.3(DNAH5):c.854C>T (p.Ala285Val)
|
|
|
NM_001369.3(DNAH5):c.8552T>C (p.Val2851Ala)
|
rs1756491046
|
|
NM_001369.3(DNAH5):c.8553A>G (p.Val2851=)
|
rs1460579595
|
|
NM_001369.3(DNAH5):c.8556G>A (p.Glu2852=)
|
rs1186570443
|
|
NM_001369.3(DNAH5):c.8562G>A (p.Glu2854=)
|
rs2126882462
|
|
NM_001369.3(DNAH5):c.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.8575A>G (p.Lys2859Glu)
|
rs776408335
|
|
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.8606_8607del (p.Thr2869fs)
|
rs1554049087
|
|
NM_001369.3(DNAH5):c.8607A>G (p.Thr2869=)
|
|
|
NM_001369.3(DNAH5):c.8610T>C (p.Tyr2870=)
|
rs1277735188
|
|
NM_001369.3(DNAH5):c.8618A>G (p.Asp2873Gly)
|
rs1347729037
|
|
NM_001369.3(DNAH5):c.8630del (p.Asp2877fs)
|
|
|
NM_001369.3(DNAH5):c.8631T>A (p.Asp2877Glu)
|
|
|
NM_001369.3(DNAH5):c.8631T>C (p.Asp2877=)
|
|
|
NM_001369.3(DNAH5):c.8633C>T (p.Ala2878Val)
|
rs1756476635
|
|
NM_001369.3(DNAH5):c.8637T>C (p.Pro2879=)
|
|
|
NM_001369.3(DNAH5):c.8642del (p.Ala2881fs)
|
|
|
NM_001369.3(DNAH5):c.8643T>C (p.Ala2881=)
|
rs1756474070
|
|
NM_001369.3(DNAH5):c.8647+3A>G
|
rs1580248475
|
|
NM_001369.3(DNAH5):c.8647+8A>C
|
|
|
NM_001369.3(DNAH5):c.8648-13T>C
|
|
|
NM_001369.3(DNAH5):c.8648-2A>T
|
|
|
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.8685_8686insCC (p.Ile2896fs)
|
|
|
NM_001369.3(DNAH5):c.8706T>C (p.Ser2902=)
|
|
|
NM_001369.3(DNAH5):c.870G>A (p.Trp290Ter)
|
|
|
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.8726G>T (p.Arg2909Leu)
|
rs756069405
|
|
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.8746C>G (p.Leu2916Val)
|
|
|
NM_001369.3(DNAH5):c.8748C>G (p.Leu2916=)
|
rs556119081
|
|
NM_001369.3(DNAH5):c.8750A>C (p.Tyr2917Ser)
|
|
|
NM_001369.3(DNAH5):c.8752A>G (p.Asn2918Asp)
|
rs1755979769
|
|
NM_001369.3(DNAH5):c.8755G>T (p.Glu2919Ter)
|
|
|
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.877dup (p.Arg293fs)
|
rs781566109
|
|
NM_001369.3(DNAH5):c.8781C>T (p.Asp2927=)
|
rs2126868696
|
|
NM_001369.3(DNAH5):c.8782A>G (p.Met2928Val)
|
|
|
NM_001369.3(DNAH5):c.8782_8786dup (p.Phe2930fs)
|
rs1755969817
|
|
NM_001369.3(DNAH5):c.8787G>A (p.Val2929=)
|
rs2126868656
|
|
NM_001369.3(DNAH5):c.8799T>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.8805G>A (p.Met2935Ile)
|
|
|
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+6G>A
|
rs201287534
|
|
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.8821-1G>A
|
rs1060501454
|
|
NM_001369.3(DNAH5):c.8821-1G>C
|
rs1060501454
|
|
NM_001369.3(DNAH5):c.8821-1G>T
|
rs1060501454
|
|
NM_001369.3(DNAH5):c.8821-29_8869del
|
|
|
NM_001369.3(DNAH5):c.8821-5T>C
|
rs368465529
|
|
NM_001369.3(DNAH5):c.8821-8T>A
|
|
|
NM_001369.3(DNAH5):c.8821-923_8868del
|
rs1755013971
|
|
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.8843C>T (p.Pro2948Leu)
|
rs922452029
|
|
NM_001369.3(DNAH5):c.8847G>A (p.Gln2949=)
|
|
|
NM_001369.3(DNAH5):c.8848G>T (p.Gly2950Ter)
|
|
|
NM_001369.3(DNAH5):c.884C>A (p.Ser295Tyr)
|
rs375537280
|
|
NM_001369.3(DNAH5):c.8850A>G (p.Gly2950=)
|
|
|
NM_001369.3(DNAH5):c.885dup (p.Lys296fs)
|
|
|
NM_001369.3(DNAH5):c.8863G>A (p.Val2955Ile)
|
|
|
NM_001369.3(DNAH5):c.8863G>C (p.Val2955Leu)
|
|
|
NM_001369.3(DNAH5):c.8864del (p.Val2955fs)
|
rs1561241156
|
|
NM_001369.3(DNAH5):c.8869del (p.Val2957fs)
|
rs1580203399
|
|
NM_001369.3(DNAH5):c.886A>G (p.Lys296Glu)
|
|
|
NM_001369.3(DNAH5):c.886A>T (p.Lys296Ter)
|
rs545061430
|
|
NM_001369.3(DNAH5):c.8875G>T (p.Gly2959Ter)
|
|
|
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.8947dup (p.Thr2983fs)
|
|
|
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+1G>A
|
|
|
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.8962A>G (p.Thr2988Ala)
|
rs1754251806
|
|
NM_001369.3(DNAH5):c.8964A>G (p.Thr2988=)
|
rs773867466
|
|
NM_001369.3(DNAH5):c.8966C>G (p.Ser2989Ter)
|
rs1754250771
|
|
NM_001369.3(DNAH5):c.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.8999del (p.Arg3000fs)
|
rs1580180757
|
|
NM_001369.3(DNAH5):c.9003A>G (p.Thr3001=)
|
rs2126814142
|
|
NM_001369.3(DNAH5):c.9003_9004insAAACCTT (p.Ala3002fs)
|
rs2126814118
|
|
NM_001369.3(DNAH5):c.9009T>C (p.Gly3003=)
|
|
|
NM_001369.3(DNAH5):c.9010C>A (p.Gln3004Lys)
|
rs1754241068
|
|
NM_001369.3(DNAH5):c.9018C>T (p.Gly3006=)
|
rs1754239719
|
|
NM_001369.3(DNAH5):c.9019A>T (p.Lys3007Ter)
|
|
|
NM_001369.3(DNAH5):c.9022G>A (p.Gly3008Arg)
|
|
|
NM_001369.3(DNAH5):c.9027C>G (p.Ile3009Met)
|
|
|
NM_001369.3(DNAH5):c.9039dup (p.Thr3014fs)
|
rs1754234425
|
|
NM_001369.3(DNAH5):c.9048T>C (p.Asn3016=)
|
rs1580180346
|
|
NM_001369.3(DNAH5):c.9056A>G (p.Lys3019Arg)
|
|
|
NM_001369.3(DNAH5):c.9065C>A (p.Ser3022Ter)
|
rs1754226636
|
|
NM_001369.3(DNAH5):c.9066A>G (p.Ser3022=)
|
rs2126813671
|
|
NM_001369.3(DNAH5):c.9070T>C (p.Leu3024=)
|
|
|
NM_001369.3(DNAH5):c.9071T>G (p.Leu3024Trp)
|
|
|
NM_001369.3(DNAH5):c.9078T>C (p.Tyr3026=)
|
rs2126813598
|
|
NM_001369.3(DNAH5):c.909A>C (p.Gln303His)
|
|
|
NM_001369.3(DNAH5):c.90G>A (p.Arg30=)
|
|
|
NM_001369.3(DNAH5):c.90_105dup (p.Arg36fs)
|
rs1778379197
|
|
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+2T>C
|
rs1580179985
|
|
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.9106-1G>A
|
|
|
NM_001369.3(DNAH5):c.9106-20T>C
|
|
|
NM_001369.3(DNAH5):c.9106-4T>A
|
rs2126811393
|
|
NM_001369.3(DNAH5):c.9106-4del
|
|
|
NM_001369.3(DNAH5):c.9106-6T>C
|
|
|
NM_001369.3(DNAH5):c.9113_9117del (p.Asn3038fs)
|
|
|
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.9124C>T (p.Arg3042Ter)
|
rs760595654
|
|
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.9151G>A (p.Asp3051Asn)
|
|
|
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.9186del (p.Arg3062fs)
|
|
|
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.919C>T (p.Pro307Ser)
|
|
|
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.9214G>A (p.Asp3072Asn)
|
|
|
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.922del (p.Asp308fs)
|
|
|
NM_001369.3(DNAH5):c.9230G>A (p.Arg3077Gln)
|
rs113742238
|
|
NM_001369.3(DNAH5):c.9230G>T (p.Arg3077Leu)
|
rs113742238
|
|
NM_001369.3(DNAH5):c.9231G>C (p.Arg3077=)
|
rs2126810663
|
|
NM_001369.3(DNAH5):c.9234C>T (p.Val3078=)
|
|
|
NM_001369.3(DNAH5):c.9235C>T (p.Arg3079Ter)
|
rs1175877764
|
|
NM_001369.3(DNAH5):c.9250A>G (p.Ile3084Val)
|
|
|
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.9280A>T (p.Lys3094Ter)
|
rs2126810319
|
|
NM_001369.3(DNAH5):c.9286C>A (p.Arg3096=)
|
|
|
NM_001369.3(DNAH5):c.9286C>T (p.Arg3096Ter)
|
|
|
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.9339G>A (p.Trp3113Ter)
|
|
|
NM_001369.3(DNAH5):c.9354dup (p.Lys3119fs)
|
|
|
NM_001369.3(DNAH5):c.9356A>G (p.Lys3119Arg)
|
|
|
NM_001369.3(DNAH5):c.935T>G (p.Val312Gly)
|
rs762677340
|
|
NM_001369.3(DNAH5):c.9365del (p.Ala3121_Leu3122insTer)
|
rs1060501460
|
|
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+1G>C
|
rs1754098584
|
|
NM_001369.3(DNAH5):c.9373+1G>T
|
|
|
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.9374-2A>T
|
rs1561215953
|
|
NM_001369.3(DNAH5):c.9374-8C>T
|
|
|
NM_001369.3(DNAH5):c.9379G>T (p.Glu3127Ter)
|
rs758303032
|
|
NM_001369.3(DNAH5):c.9387C>T (p.Phe3129=)
|
|
|
NM_001369.3(DNAH5):c.9393T>G (p.Thr3131=)
|
|
|
NM_001369.3(DNAH5):c.9399T>A (p.Tyr3133Ter)
|
rs1753258436
|
|
NM_001369.3(DNAH5):c.93T>A (p.Ala31=)
|
rs2152008979
|
|
NM_001369.3(DNAH5):c.93T>C (p.Ala31=)
|
|
|
NM_001369.3(DNAH5):c.9402T>C (p.Asp3134=)
|
|
|
NM_001369.3(DNAH5):c.9404T>C (p.Ile3135Thr)
|
|
|
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.9449del (p.Gly3150fs)
|
rs727504802
|
|
NM_001369.3(DNAH5):c.9450C>T (p.Gly3150=)
|
|
|
NM_001369.3(DNAH5):c.9452C>G (p.Ser3151Cys)
|
rs1243099431
|
|
NM_001369.3(DNAH5):c.9465G>A (p.Gly3155=)
|
|
|
NM_001369.3(DNAH5):c.9465_9466del (p.Val3156fs)
|
|
|
NM_001369.3(DNAH5):c.9472G>A (p.Glu3158Lys)
|
|
|
NM_001369.3(DNAH5):c.9478T>C (p.Cys3160Arg)
|
|
|
NM_001369.3(DNAH5):c.9480T>A (p.Cys3160Ter)
|
rs764948792
|
|
NM_001369.3(DNAH5):c.9481G>T (p.Val3161Phe)
|
|
|
NM_001369.3(DNAH5):c.9489T>C (p.Tyr3163=)
|
rs185605880
|
|
NM_001369.3(DNAH5):c.9489T>G (p.Tyr3163Ter)
|
|
|
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>C (p.Thr3171Pro)
|
|
|
NM_001369.3(DNAH5):c.9511A>G (p.Thr3171Ala)
|
rs149681419
|
|
NM_001369.3(DNAH5):c.9511A>T (p.Thr3171Ser)
|
|
|
NM_001369.3(DNAH5):c.9514C>G (p.His3172Asp)
|
|
|
NM_001369.3(DNAH5):c.9514dup (p.His3172fs)
|
rs1561215326
|
|
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.952del (p.Ala318fs)
|
|
|
NM_001369.3(DNAH5):c.9530C>A (p.Ser3177Ter)
|
|
|
NM_001369.3(DNAH5):c.9531A>G (p.Ser3177=)
|
rs764594038
|
|
NM_001369.3(DNAH5):c.9534C>A (p.Tyr3178Ter)
|
rs1580150353
|
|
NM_001369.3(DNAH5):c.9538_9539delinsCT (p.Ser3180Leu)
|
|
|
NM_001369.3(DNAH5):c.9540del (p.Phe3181fs)
|
rs2126785787
|
|
NM_001369.3(DNAH5):c.9543T>C (p.Phe3181=)
|
rs2126785777
|
|
NM_001369.3(DNAH5):c.9546T>C (p.Ile3182=)
|
|
|
NM_001369.3(DNAH5):c.9546T>G (p.Ile3182Met)
|
|
|
NM_001369.3(DNAH5):c.954G>A (p.Ala318=)
|
rs1776983489
|
|
NM_001369.3(DNAH5):c.9557del (p.Lys3186fs)
|
rs2126785666
|
|
NM_001369.3(DNAH5):c.9564A>T (p.Ile3188=)
|
|
|
NM_001369.3(DNAH5):c.9575A>G (p.Lys3192Arg)
|
|
|
NM_001369.3(DNAH5):c.9576G>A (p.Lys3192=)
|
|
|
NM_001369.3(DNAH5):c.9580G>T (p.Val3194Leu)
|
rs2126785528
|
|
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+1del
|
|
|
NM_001369.3(DNAH5):c.9605+20A>G
|
|
|
NM_001369.3(DNAH5):c.9606-18T>C
|
rs374561149
|
|
NM_001369.3(DNAH5):c.9606-18T>G
|
|
|
NM_001369.3(DNAH5):c.9606-1G>A
|
|
|
NM_001369.3(DNAH5):c.9606-2A>G
|
rs755550738
|
|
NM_001369.3(DNAH5):c.9606-7A>G
|
rs1753043312
|
|
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.9620del (p.Leu3207fs)
|
rs769691641
|
|
NM_001369.3(DNAH5):c.9624A>G (p.Glu3208=)
|
rs2126779894
|
|
NM_001369.3(DNAH5):c.9627G>A (p.Lys3209=)
|
rs760165157
|
|
NM_001369.3(DNAH5):c.9642A>C (p.Ser3214=)
|
|
|
NM_001369.3(DNAH5):c.9654A>G (p.Ala3218=)
|
|
|
NM_001369.3(DNAH5):c.9655G>A (p.Ala3219Thr)
|
rs1554040804
|
|
NM_001369.3(DNAH5):c.9670C>T (p.Leu3224=)
|
|
|
NM_001369.3(DNAH5):c.9677C>T (p.Ala3226Val)
|
rs192262838
|
|
NM_001369.3(DNAH5):c.9682G>T (p.Glu3228Ter)
|
rs2126779627
|
|
NM_001369.3(DNAH5):c.9685A>G (p.Lys3229Glu)
|
|
|
NM_001369.3(DNAH5):c.9694C>T (p.Gln3232Ter)
|
rs369683202
|
|
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.9720G>T (p.Met3240Ile)
|
|
|
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.9721-1G>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.9721-8del
|
rs560450857
|
|
NM_001369.3(DNAH5):c.972G>A (p.Leu324=)
|
rs757404057
|
|
NM_001369.3(DNAH5):c.9730del (p.Glu3244fs)
|
|
|
NM_001369.3(DNAH5):c.9739A>G (p.Met3247Val)
|
rs780887847
|
|
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+3C>A
|
|
|
NM_001369.3(DNAH5):c.975+7A>C
|
rs1291374135
|
|
NM_001369.3(DNAH5):c.975+8G>A
|
rs1229365810
|
|
NM_001369.3(DNAH5):c.975+8G>C
|
rs1229365810
|
|
NM_001369.3(DNAH5):c.9750G>A (p.Gln3250=)
|
rs766159473
|
|
NM_001369.3(DNAH5):c.9751G>C (p.Ala3251Pro)
|
|
|
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
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NM_001369.3(DNAH5):c.976-13C>G
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NM_001369.3(DNAH5):c.976-13C>T
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NM_001369.3(DNAH5):c.976-16del
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|
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NM_001369.3(DNAH5):c.976-4T>C
|
rs375382496
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NM_001369.3(DNAH5):c.976-7T>C
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NM_001369.3(DNAH5):c.9761A>G (p.Lys3254Arg)
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NM_001369.3(DNAH5):c.9764T>G (p.Val3255Gly)
|
rs2126776737
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NM_001369.3(DNAH5):c.9765C>A (p.Val3255=)
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NM_001369.3(DNAH5):c.9765C>G (p.Val3255=)
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NM_001369.3(DNAH5):c.9774G>A (p.Glu3258=)
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rs2126776667
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NM_001369.3(DNAH5):c.9778C>T (p.Gln3260Ter)
|
rs1752923333
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NM_001369.3(DNAH5):c.9782del (p.Lys3261fs)
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NM_001369.3(DNAH5):c.9786G>A (p.Val3262=)
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rs2126776574
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NM_001369.3(DNAH5):c.9788A>G (p.Lys3263Arg)
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NM_001369.3(DNAH5):c.9792C>T (p.Asp3264=)
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rs1447889163
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NM_001369.3(DNAH5):c.9799C>T (p.Gln3267Ter)
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rs923842695
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NM_001369.3(DNAH5):c.9805del (p.Ile3269fs)
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NM_001369.3(DNAH5):c.980G>A (p.Trp327Ter)
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rs1776744623
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NM_001369.3(DNAH5):c.9810G>A (p.Val3270=)
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rs779435246
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NM_001369.3(DNAH5):c.9815G>A (p.Ser3272Asn)
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NM_001369.3(DNAH5):c.982C>T (p.Arg328Trp)
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NM_001369.3(DNAH5):c.9831A>G (p.Lys3277=)
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NM_001369.3(DNAH5):c.9840T>C (p.Ala3280=)
|
rs1256566430
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NM_001369.3(DNAH5):c.9840T>G (p.Ala3280=)
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NM_001369.3(DNAH5):c.9842A>G (p.Glu3281Gly)
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NM_001369.3(DNAH5):c.9849A>G (p.Lys3283=)
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NM_001369.3(DNAH5):c.9856G>A (p.Ala3286Thr)
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NM_001369.3(DNAH5):c.985G>T (p.Glu329Ter)
|
rs2151986932
|
|
NM_001369.3(DNAH5):c.9864A>G (p.Lys3288=)
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|
|
NM_001369.3(DNAH5):c.986A>G (p.Glu329Gly)
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|
|
NM_001369.3(DNAH5):c.9877G>T (p.Glu3293Ter)
|
rs2126775977
|
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NM_001369.3(DNAH5):c.9878A>C (p.Glu3293Ala)
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NM_001369.3(DNAH5):c.9879G>A (p.Glu3293=)
|
rs764348016
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NM_001369.3(DNAH5):c.9882A>C (p.Ala3294=)
|
rs1310264829
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NM_001369.3(DNAH5):c.9890C>T (p.Ala3297Val)
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|
NM_001369.3(DNAH5):c.9892T>C (p.Leu3298=)
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NM_001369.3(DNAH5):c.9896A>G (p.Gln3299Arg)
|
rs727503902
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NM_001369.3(DNAH5):c.9897+13G>A
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NM_001369.3(DNAH5):c.9897+13G>C
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|
|
NM_001369.3(DNAH5):c.9897+1G>A
|
rs914675446
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NM_001369.3(DNAH5):c.9897+1G>T
|
|
|
NM_001369.3(DNAH5):c.9897+1del
|
rs1386707595
|
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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
|
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NM_001369.3(DNAH5):c.9897+9_9897+10del
|
|
|
NM_001369.3(DNAH5):c.9898-11T>G
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NM_001369.3(DNAH5):c.9898-12T>C
|
|
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NM_001369.3(DNAH5):c.9898-19C>T
|
|
|
NM_001369.3(DNAH5):c.9898-4C>T
|
rs763470877
|
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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.9932C>T (p.Thr3311Met)
|
|
|
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.9940C>T (p.Arg3314Cys)
|
rs755923477
|
|
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.9967A>G (p.Met3323Val)
|
rs1554039465
|
|
NM_001369.3(DNAH5):c.9975C>A (p.Cys3325Ter)
|
rs771715883
|
|
NM_001369.3(DNAH5):c.9976G>A (p.Val3326Ile)
|
rs149452082
|
|
NM_001369.3(DNAH5):c.9976G>T (p.Val3326Leu)
|
|
|
NM_001369.3(DNAH5):c.9978A>G (p.Val3326=)
|
|
|
NM_001369.3(DNAH5):c.997C>A (p.Arg333=)
|
rs771956532
|
|
NM_001369.3(DNAH5):c.997C>T (p.Arg333Ter)
|
rs771956532
|
|
NM_001369.3(DNAH5):c.9980del (p.Leu3327fs)
|
rs1752478598
|
|
NM_001369.3(DNAH5):c.9985C>T (p.Leu3329=)
|
|
|
NM_001369.3(DNAH5):c.9986T>C (p.Leu3329Pro)
|
rs878854459
|
|
NM_001369.3(DNAH5):c.9987G>C (p.Leu3329=)
|
|
|
NM_001369.3(DNAH5):c.998G>A (p.Arg333Gln)
|
|
|
NM_001369.3(DNAH5):c.9990del (p.Gln3331fs)
|
rs2126762332
|
|
NM_001369.3(DNAH5):c.9990dup (p.Gln3331fs)
|
|
|
NM_001369.3(DNAH5):c.9G>A (p.Arg3=)
|
|
|