NM_001369.3(DNAH5):c.*84C>T
|
rs151143347
|
0.00442
|
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.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.*426C>T
|
rs541323896
|
0.00275
|
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.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.1356G>A (p.Lys452=)
|
rs144748846
|
0.00176
|
NM_001369.3(DNAH5):c.*1652C>T
|
rs149589710
|
0.00173
|
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.8845C>G (p.Gln2949Glu)
|
rs147688221
|
0.00146
|
NM_001369.3(DNAH5):c.7998G>T (p.Glu2666Asp)
|
rs148720124
|
0.00139
|
NM_001369.3(DNAH5):c.8137C>T (p.Arg2713Cys)
|
rs111912673
|
0.00131
|
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.8002G>A (p.Gly2668Arg)
|
rs147236883
|
0.00115
|
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.88C>T (p.Arg30Trp)
|
rs114220185
|
0.00096
|
NM_001369.3(DNAH5):c.*1613G>A
|
rs763635720
|
0.00091
|
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.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.5882+133A>G
|
rs530043272
|
0.00074
|
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.1715T>G (p.Leu572Trp)
|
rs137878131
|
0.00067
|
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.11570+124G>C
|
rs543104462
|
0.00057
|
NM_001369.3(DNAH5):c.12500-11G>A
|
rs200056509
|
0.00057
|
NM_001369.3(DNAH5):c.9410G>A (p.Cys3137Tyr)
|
rs143357437
|
0.00057
|
NM_001369.3(DNAH5):c.5643G>A (p.Thr1881=)
|
rs150429110
|
0.00056
|
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.*445G>A
|
rs139979856
|
0.00046
|
NM_001369.3(DNAH5):c.3534C>T (p.Asn1178=)
|
rs151274810
|
0.00046
|
NM_001369.3(DNAH5):c.8268A>C (p.Ser2756=)
|
rs775185371
|
0.00046
|
NM_001369.3(DNAH5):c.8960A>T (p.Asn2987Ile)
|
rs149489069
|
0.00046
|
NM_001369.3(DNAH5):c.*427G>A
|
rs564203224
|
0.00045
|
NM_001369.3(DNAH5):c.1250C>G (p.Thr417Ser)
|
rs149202369
|
0.00044
|
NM_001369.3(DNAH5):c.917G>A (p.Ser306Asn)
|
rs144128250
|
0.00044
|
NM_001369.3(DNAH5):c.1114A>G (p.Thr372Ala)
|
rs140227610
|
0.00042
|
NM_001369.3(DNAH5):c.2578-7_2578-6del
|
rs1491199769
|
0.00041
|
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.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.7531C>T (p.Arg2511Trp)
|
rs564040169
|
0.00035
|
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.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.1126G>T (p.Ala376Ser)
|
rs201469505
|
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.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.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.3760C>T (p.Arg1254Trp)
|
rs749162833
|
0.00021
|
NM_001369.3(DNAH5):c.39C>T (p.Ser13=)
|
rs370788337
|
0.00021
|
NM_001369.3(DNAH5):c.8936A>G (p.Gln2979Arg)
|
rs148666497
|
0.00021
|
NM_001369.3(DNAH5):c.12367C>T (p.His4123Tyr)
|
rs151145750
|
0.00019
|
NM_001369.3(DNAH5):c.330A>T (p.Lys110Asn)
|
rs138832246
|
0.00019
|
NM_001369.3(DNAH5):c.5911G>A (p.Gly1971Arg)
|
rs764973765
|
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.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.10194C>T (p.Arg3398=)
|
rs371663826
|
0.00014
|
NM_001369.3(DNAH5):c.12189G>A (p.Gly4063=)
|
rs144879072
|
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.9781A>G (p.Lys3261Glu)
|
rs146215039
|
0.00014
|
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.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.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.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.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.*1506G>A
|
rs574438524
|
0.00010
|
NM_001369.3(DNAH5):c.10036A>G (p.Thr3346Ala)
|
rs141971313
|
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.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.8765G>A (p.Arg2922His)
|
rs148539877
|
0.00010
|
NM_001369.3(DNAH5):c.9626A>G (p.Lys3209Arg)
|
rs201473584
|
0.00010
|
NM_001369.3(DNAH5):c.*920A>G
|
rs1386874771
|
0.00009
|
NM_001369.3(DNAH5):c.10658G>A (p.Arg3553Gln)
|
rs144393366
|
0.00009
|
NM_001369.3(DNAH5):c.11512G>A (p.Glu3838Lys)
|
rs190450522
|
0.00009
|
NM_001369.3(DNAH5):c.12123A>C (p.Pro4041=)
|
rs149580135
|
0.00009
|
NM_001369.3(DNAH5):c.12251G>A (p.Arg4084Gln)
|
rs140832239
|
0.00009
|
NM_001369.3(DNAH5):c.12413T>G (p.Phe4138Cys)
|
rs757393675
|
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.393C>T (p.Ile131=)
|
rs202190908
|
0.00009
|
NM_001369.3(DNAH5):c.4286A>G (p.Tyr1429Cys)
|
rs141052175
|
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.12105G>A (p.Thr4035=)
|
rs199735129
|
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.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.9911C>T (p.Ser3304Leu)
|
rs139821753
|
0.00008
|
NM_001369.3(DNAH5):c.9919G>A (p.Ala3307Thr)
|
rs757212818
|
0.00008
|
NM_001369.3(DNAH5):c.*1361G>T
|
rs886059930
|
0.00007
|
NM_001369.3(DNAH5):c.*281T>C
|
rs936169293
|
0.00007
|
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.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.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.13689G>C (p.Leu4563Phe)
|
rs374221053
|
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.1958C>T (p.Thr653Met)
|
rs201020293
|
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.5485-11A>G
|
rs372860402
|
0.00006
|
NM_001369.3(DNAH5):c.632C>T (p.Ser211Leu)
|
rs139857637
|
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.6747C>T (p.Phe2249=)
|
rs568499996
|
0.00006
|
NM_001369.3(DNAH5):c.7091G>C (p.Gly2364Ala)
|
rs373657849
|
0.00006
|
NM_001369.3(DNAH5):c.7452C>A (p.Phe2484Leu)
|
rs561666802
|
0.00006
|
NM_001369.3(DNAH5):c.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.8956T>C (p.Tyr2986His)
|
rs369931315
|
0.00006
|
NM_001369.3(DNAH5):c.10472C>T (p.Thr3491Met)
|
rs760010021
|
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.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.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.727C>G (p.Leu243Val)
|
rs761877376
|
0.00005
|
NM_001369.3(DNAH5):c.8018A>G (p.Asn2673Ser)
|
rs200591493
|
0.00005
|
NM_001369.3(DNAH5):c.9538T>G (p.Ser3180Ala)
|
rs375817990
|
0.00005
|
NM_001369.3(DNAH5):c.*305C>T
|
rs955336890
|
0.00004
|
NM_001369.3(DNAH5):c.*697A>G
|
rs972489046
|
0.00004
|
NM_001369.3(DNAH5):c.10192C>T (p.Arg3398Cys)
|
rs147882360
|
0.00004
|
NM_001369.3(DNAH5):c.10378G>A (p.Val3460Met)
|
rs200012281
|
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.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.12558C>T (p.Tyr4186=)
|
rs748817131
|
0.00004
|
NM_001369.3(DNAH5):c.13255G>C (p.Asp4419His)
|
rs373749995
|
0.00004
|
NM_001369.3(DNAH5):c.13502G>A (p.Arg4501Gln)
|
rs781267941
|
0.00004
|
NM_001369.3(DNAH5):c.1982G>A (p.Arg661His)
|
rs185855852
|
0.00004
|
NM_001369.3(DNAH5):c.2368G>A (p.Ala790Thr)
|
rs201417702
|
0.00004
|
NM_001369.3(DNAH5):c.2462A>G (p.Asn821Ser)
|
rs750670743
|
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.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.4481G>A (p.Arg1494Gln)
|
rs372291214
|
0.00004
|
NM_001369.3(DNAH5):c.465G>A (p.Ala155=)
|
rs763709302
|
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.5198C>T (p.Ser1733Leu)
|
rs146087064
|
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.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.8726G>A (p.Arg2909His)
|
rs756069405
|
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.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.983G>A (p.Arg328Gln)
|
rs376626613
|
0.00004
|
NM_001369.3(DNAH5):c.*891A>G
|
rs764924502
|
0.00003
|
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.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.12104C>T (p.Thr4035Met)
|
rs200894344
|
0.00003
|
NM_001369.3(DNAH5):c.12234C>T (p.Gly4078=)
|
rs886059967
|
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.12857G>A (p.Gly4286Glu)
|
rs185104576
|
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.1435C>T (p.Arg479Cys)
|
rs200494845
|
0.00003
|
NM_001369.3(DNAH5):c.1810T>C (p.Ser604Pro)
|
rs769275003
|
0.00003
|
NM_001369.3(DNAH5):c.2260-12A>G
|
rs184701603
|
0.00003
|
NM_001369.3(DNAH5):c.3064G>A (p.Val1022Ile)
|
rs375218798
|
0.00003
|
NM_001369.3(DNAH5):c.3320A>T (p.Tyr1107Phe)
|
rs367913308
|
0.00003
|
NM_001369.3(DNAH5):c.349G>A (p.Glu117Lys)
|
rs116128702
|
0.00003
|
NM_001369.3(DNAH5):c.4072G>A (p.Gly1358Ser)
|
rs752638332
|
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.535A>G (p.Thr179Ala)
|
rs755082450
|
0.00003
|
NM_001369.3(DNAH5):c.5472C>T (p.Ser1824=)
|
rs372046349
|
0.00003
|
NM_001369.3(DNAH5):c.6109A>G (p.Ile2037Val)
|
rs200551639
|
0.00003
|
NM_001369.3(DNAH5):c.6859C>T (p.Arg2287Trp)
|
rs747326567
|
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.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.9590G>A (p.Arg3197Gln)
|
rs573476401
|
0.00003
|
NM_001369.3(DNAH5):c.*100G>A
|
rs527863586
|
0.00002
|
NM_001369.3(DNAH5):c.*1298T>A
|
rs917055972
|
0.00002
|
NM_001369.3(DNAH5):c.*349G>A
|
rs866931796
|
0.00002
|
NM_001369.3(DNAH5):c.100G>A (p.Asp34Asn)
|
rs1215107095
|
0.00002
|
NM_001369.3(DNAH5):c.10195G>A (p.Val3399Ile)
|
rs749397968
|
0.00002
|
NM_001369.3(DNAH5):c.10312C>T (p.Leu3438Phe)
|
rs1165709485
|
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.11438G>A (p.Arg3813Gln)
|
rs143612682
|
0.00002
|
NM_001369.3(DNAH5):c.11465G>A (p.Arg3822Gln)
|
rs779624238
|
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.12076G>A (p.Glu4026Lys)
|
rs776854779
|
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.12566C>T (p.Ala4189Val)
|
rs138788207
|
0.00002
|
NM_001369.3(DNAH5):c.12604G>A (p.Gly4202Ser)
|
rs748903850
|
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.13276G>A (p.Glu4426Lys)
|
rs777295839
|
0.00002
|
NM_001369.3(DNAH5):c.1382A>G (p.Gln461Arg)
|
rs886060013
|
0.00002
|
NM_001369.3(DNAH5):c.1537-10A>T
|
rs777597757
|
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.1870G>A (p.Ala624Thr)
|
rs373727231
|
0.00002
|
NM_001369.3(DNAH5):c.1892G>A (p.Arg631His)
|
rs370272258
|
0.00002
|
NM_001369.3(DNAH5):c.2048G>A (p.Arg683Gln)
|
rs142373364
|
0.00002
|
NM_001369.3(DNAH5):c.2122G>T (p.Val708Leu)
|
rs779509527
|
0.00002
|
NM_001369.3(DNAH5):c.2578-5G>T
|
rs76559205
|
0.00002
|
NM_001369.3(DNAH5):c.378A>G (p.Val126=)
|
rs377275027
|
0.00002
|
NM_001369.3(DNAH5):c.3892A>G (p.Lys1298Glu)
|
rs774680760
|
0.00002
|
NM_001369.3(DNAH5):c.4319A>C (p.Glu1440Ala)
|
rs147322363
|
0.00002
|
NM_001369.3(DNAH5):c.4418T>C (p.Ile1473Thr)
|
rs779510008
|
0.00002
|
NM_001369.3(DNAH5):c.4420G>C (p.Asp1474His)
|
rs371703906
|
0.00002
|
NM_001369.3(DNAH5):c.4480C>T (p.Arg1494Trp)
|
rs535366955
|
0.00002
|
NM_001369.3(DNAH5):c.4556T>A (p.Ile1519Asn)
|
rs371453794
|
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.5642C>T (p.Thr1881Met)
|
rs190749755
|
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.6167A>T (p.Lys2056Ile)
|
rs578128759
|
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.660+10A>G
|
rs750383077
|
0.00002
|
NM_001369.3(DNAH5):c.6791G>A (p.Ser2264Asn)
|
rs78484669
|
0.00002
|
NM_001369.3(DNAH5):c.6856C>T (p.His2286Tyr)
|
rs201114289
|
0.00002
|
NM_001369.3(DNAH5):c.6911G>A (p.Arg2304Gln)
|
rs558294959
|
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.7371G>C (p.Gln2457His)
|
rs1561324970
|
0.00002
|
NM_001369.3(DNAH5):c.7574G>A (p.Gly2525Glu)
|
rs1465026258
|
0.00002
|
NM_001369.3(DNAH5):c.8184T>G (p.Asn2728Lys)
|
rs1469012975
|
0.00002
|
NM_001369.3(DNAH5):c.8236G>T (p.Val2746Leu)
|
rs773643407
|
0.00002
|
NM_001369.3(DNAH5):c.841G>A (p.Val281Ile)
|
rs548585661
|
0.00002
|
NM_001369.3(DNAH5):c.8647+6C>T
|
rs200250503
|
0.00002
|
NM_001369.3(DNAH5):c.8725C>T (p.Arg2909Cys)
|
rs369744828
|
0.00002
|
NM_001369.3(DNAH5):c.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.9236G>A (p.Arg3079Gln)
|
rs752552477
|
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.9975C>T (p.Cys3325=)
|
rs771715883
|
0.00002
|
NM_001369.3(DNAH5):c.*883T>C
|
rs1427522956
|
0.00001
|
NM_001369.3(DNAH5):c.10021C>G (p.Leu3341Val)
|
rs751746139
|
0.00001
|
NM_001369.3(DNAH5):c.10186G>A (p.Ala3396Thr)
|
rs1751970470
|
0.00001
|
NM_001369.3(DNAH5):c.10262A>G (p.Lys3421Arg)
|
rs1751957147
|
0.00001
|
NM_001369.3(DNAH5):c.10375G>T (p.Asp3459Tyr)
|
rs751500950
|
0.00001
|
NM_001369.3(DNAH5):c.10458G>A (p.Met3486Ile)
|
rs376253368
|
0.00001
|
NM_001369.3(DNAH5):c.10738G>A (p.Gly3580Ser)
|
rs886059972
|
0.00001
|
NM_001369.3(DNAH5):c.10784C>T (p.Thr3595Met)
|
rs886043929
|
0.00001
|
NM_001369.3(DNAH5):c.10877C>T (p.Thr3626Met)
|
rs376067762
|
0.00001
|
NM_001369.3(DNAH5):c.11017T>C (p.Ser3673Pro)
|
rs1250778700
|
0.00001
|
NM_001369.3(DNAH5):c.11377G>A (p.Glu3793Lys)
|
rs751996726
|
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.11456-3C>T
|
rs368946226
|
0.00001
|
NM_001369.3(DNAH5):c.11463G>A (p.Thr3821=)
|
rs200744540
|
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.11653C>T (p.Arg3885Ter)
|
rs756032160
|
0.00001
|
NM_001369.3(DNAH5):c.1165A>G (p.Thr389Ala)
|
rs1305527957
|
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.12033+4A>G
|
rs746256175
|
0.00001
|
NM_001369.3(DNAH5):c.12034G>C (p.Ala4012Pro)
|
rs747828322
|
0.00001
|
NM_001369.3(DNAH5):c.12109G>C (p.Glu4037Gln)
|
rs775060022
|
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.12125G>A (p.Arg4042Gln)
|
rs746715378
|
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.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.12437C>T (p.Ser4146Phe)
|
rs750170721
|
0.00001
|
NM_001369.3(DNAH5):c.12502G>A (p.Val4168Ile)
|
rs747409181
|
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.12631G>A (p.Glu4211Lys)
|
rs762673561
|
0.00001
|
NM_001369.3(DNAH5):c.12655G>A (p.Ala4219Thr)
|
rs794727887
|
0.00001
|
NM_001369.3(DNAH5):c.12772G>A (p.Asp4258Asn)
|
rs1354484933
|
0.00001
|
NM_001369.3(DNAH5):c.12842T>C (p.Phe4281Ser)
|
rs886059964
|
0.00001
|
NM_001369.3(DNAH5):c.12880A>G (p.Thr4294Ala)
|
rs765649176
|
0.00001
|
NM_001369.3(DNAH5):c.12937G>C (p.Val4313Leu)
|
rs769666008
|
0.00001
|
NM_001369.3(DNAH5):c.12958G>A (p.Ala4320Thr)
|
rs377316131
|
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.13227C>A (p.Ser4409Arg)
|
rs139357559
|
0.00001
|
NM_001369.3(DNAH5):c.13540T>C (p.Cys4514Arg)
|
rs916403814
|
0.00001
|
NM_001369.3(DNAH5):c.13699A>G (p.Ile4567Val)
|
rs761546028
|
0.00001
|
NM_001369.3(DNAH5):c.13736C>T (p.Pro4579Leu)
|
rs774527322
|
0.00001
|
NM_001369.3(DNAH5):c.13753C>A (p.Pro4585Thr)
|
rs760428177
|
0.00001
|
NM_001369.3(DNAH5):c.13774C>T (p.Arg4592Ter)
|
rs758112779
|
0.00001
|
NM_001369.3(DNAH5):c.1396G>A (p.Glu466Lys)
|
rs377439232
|
0.00001
|
NM_001369.3(DNAH5):c.1420G>A (p.Glu474Lys)
|
rs886060012
|
0.00001
|
NM_001369.3(DNAH5):c.1465A>G (p.Thr489Ala)
|
rs779916415
|
0.00001
|
NM_001369.3(DNAH5):c.1502T>C (p.Ile501Thr)
|
rs746819760
|
0.00001
|
NM_001369.3(DNAH5):c.1678G>A (p.Ala560Thr)
|
rs1395945103
|
0.00001
|
NM_001369.3(DNAH5):c.1728A>C (p.Glu576Asp)
|
rs769083484
|
0.00001
|
NM_001369.3(DNAH5):c.1730G>C (p.Arg577Thr)
|
rs397515541
|
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.2259+8A>G
|
rs202137813
|
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.2483T>C (p.Ile828Thr)
|
rs769408333
|
0.00001
|
NM_001369.3(DNAH5):c.2488G>A (p.Ala830Thr)
|
rs372432790
|
0.00001
|
NM_001369.3(DNAH5):c.257A>G (p.Asp86Gly)
|
rs147441805
|
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.2951G>A (p.Arg984His)
|
rs780758815
|
0.00001
|
NM_001369.3(DNAH5):c.297A>T (p.Gly99=)
|
rs794727633
|
0.00001
|
NM_001369.3(DNAH5):c.2983+5T>C
|
rs1353417066
|
0.00001
|
NM_001369.3(DNAH5):c.3013A>T (p.Asn1005Tyr)
|
rs770975422
|
0.00001
|
NM_001369.3(DNAH5):c.3031C>T (p.Arg1011Trp)
|
rs928800148
|
0.00001
|
NM_001369.3(DNAH5):c.3043A>G (p.Thr1015Ala)
|
rs756780275
|
0.00001
|
NM_001369.3(DNAH5):c.3084A>G (p.Glu1028=)
|
rs766451124
|
0.00001
|
NM_001369.3(DNAH5):c.3154A>C (p.Ser1052Arg)
|
rs367835771
|
0.00001
|
NM_001369.3(DNAH5):c.3236T>C (p.Val1079Ala)
|
rs1771847921
|
0.00001
|
NM_001369.3(DNAH5):c.3314A>G (p.Asn1105Ser)
|
rs371783309
|
0.00001
|
NM_001369.3(DNAH5):c.3427C>T (p.Arg1143Cys)
|
rs775816222
|
0.00001
|
NM_001369.3(DNAH5):c.3560C>G (p.Pro1187Arg)
|
rs1415125422
|
0.00001
|
NM_001369.3(DNAH5):c.362T>C (p.Val121Ala)
|
rs752992572
|
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.3736C>T (p.Pro1246Ser)
|
rs1769992971
|
0.00001
|
NM_001369.3(DNAH5):c.3769A>G (p.Met1257Val)
|
rs886060007
|
0.00001
|
NM_001369.3(DNAH5):c.3792G>C (p.Arg1264Ser)
|
rs769589158
|
0.00001
|
NM_001369.3(DNAH5):c.3821T>C (p.Val1274Ala)
|
rs761168416
|
0.00001
|
NM_001369.3(DNAH5):c.4054-4T>C
|
rs200608915
|
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.4269A>G (p.Ile1423Met)
|
rs779020258
|
0.00001
|
NM_001369.3(DNAH5):c.4295T>C (p.Ile1432Thr)
|
rs753029826
|
0.00001
|
NM_001369.3(DNAH5):c.4524T>G (p.Asp1508Glu)
|
rs1268555395
|
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.4747G>A (p.Ala1583Thr)
|
rs374072143
|
0.00001
|
NM_001369.3(DNAH5):c.4787T>G (p.Leu1596Arg)
|
rs1242688686
|
0.00001
|
NM_001369.3(DNAH5):c.5009A>G (p.His1670Arg)
|
rs970902714
|
0.00001
|
NM_001369.3(DNAH5):c.5056G>A (p.Gly1686Arg)
|
rs1385680717
|
0.00001
|
NM_001369.3(DNAH5):c.5146C>T (p.Arg1716Trp)
|
rs368644722
|
0.00001
|
NM_001369.3(DNAH5):c.5171C>T (p.Ala1724Val)
|
rs1354561021
|
0.00001
|
NM_001369.3(DNAH5):c.5199G>A (p.Ser1733=)
|
rs142806046
|
0.00001
|
NM_001369.3(DNAH5):c.5276A>G (p.Tyr1759Cys)
|
rs762444469
|
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.5552T>C (p.Phe1851Ser)
|
rs368576880
|
0.00001
|
NM_001369.3(DNAH5):c.5563A>G (p.Ile1855Val)
|
rs1259929811
|
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.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.5705A>G (p.Asp1902Gly)
|
rs776748041
|
0.00001
|
NM_001369.3(DNAH5):c.5762G>A (p.Arg1921Lys)
|
rs1331052558
|
0.00001
|
NM_001369.3(DNAH5):c.5807C>T (p.Thr1936Ile)
|
rs779609286
|
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.5883-6A>G
|
rs763588282
|
0.00001
|
NM_001369.3(DNAH5):c.5923G>C (p.Gly1975Arg)
|
rs752901859
|
0.00001
|
NM_001369.3(DNAH5):c.5992G>A (p.Gly1998Arg)
|
rs1298790222
|
0.00001
|
NM_001369.3(DNAH5):c.6004G>A (p.Val2002Met)
|
rs148279547
|
0.00001
|
NM_001369.3(DNAH5):c.6268C>T (p.Arg2090Trp)
|
rs774191944
|
0.00001
|
NM_001369.3(DNAH5):c.6305G>A (p.Arg2102His)
|
rs876657782
|
0.00001
|
NM_001369.3(DNAH5):c.6413A>G (p.Tyr2138Cys)
|
rs769252635
|
0.00001
|
NM_001369.3(DNAH5):c.6444G>A (p.Gln2148=)
|
rs769544175
|
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.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+3A>G
|
rs727502976
|
0.00001
|
NM_001369.3(DNAH5):c.661G>A (p.Val221Met)
|
rs1085307485
|
0.00001
|
NM_001369.3(DNAH5):c.6764G>A (p.Arg2255Gln)
|
rs1317585354
|
0.00001
|
NM_001369.3(DNAH5):c.6902T>C (p.Met2301Thr)
|
rs778689094
|
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.7037T>C (p.Ile2346Thr)
|
rs757623380
|
0.00001
|
NM_001369.3(DNAH5):c.7088A>G (p.Asn2363Ser)
|
rs910750925
|
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.7131C>T (p.Phe2377=)
|
rs562255121
|
0.00001
|
NM_001369.3(DNAH5):c.7132G>A (p.Glu2378Lys)
|
rs1409796457
|
0.00001
|
NM_001369.3(DNAH5):c.7151A>G (p.Asn2384Ser)
|
rs777962194
|
0.00001
|
NM_001369.3(DNAH5):c.7196G>A (p.Ser2399Asn)
|
rs550329660
|
0.00001
|
NM_001369.3(DNAH5):c.7258G>A (p.Glu2420Lys)
|
rs1404921254
|
0.00001
|
NM_001369.3(DNAH5):c.7408-14T>C
|
rs1454703878
|
0.00001
|
NM_001369.3(DNAH5):c.7445G>A (p.Arg2482Gln)
|
rs764212128
|
0.00001
|
NM_001369.3(DNAH5):c.7484C>T (p.Ala2495Val)
|
rs768364281
|
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.7537A>T (p.Thr2513Ser)
|
rs376433526
|
0.00001
|
NM_001369.3(DNAH5):c.7573G>A (p.Gly2525Arg)
|
rs771328747
|
0.00001
|
NM_001369.3(DNAH5):c.7583C>T (p.Ala2528Val)
|
rs1400861231
|
0.00001
|
NM_001369.3(DNAH5):c.7831T>C (p.Cys2611Arg)
|
rs377481206
|
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.8030G>A (p.Arg2677Gln)
|
rs886043448
|
0.00001
|
NM_001369.3(DNAH5):c.8147T>C (p.Ile2716Thr)
|
rs746501395
|
0.00001
|
NM_001369.3(DNAH5):c.8315G>A (p.Arg2772Gln)
|
rs755210201
|
0.00001
|
NM_001369.3(DNAH5):c.8353C>T (p.Pro2785Ser)
|
rs1167219863
|
0.00001
|
NM_001369.3(DNAH5):c.8396G>A (p.Arg2799Gln)
|
rs1182948401
|
0.00001
|
NM_001369.3(DNAH5):c.8449-3C>T
|
rs772481411
|
0.00001
|
NM_001369.3(DNAH5):c.8497C>T (p.Arg2833Cys)
|
rs766481283
|
0.00001
|
NM_001369.3(DNAH5):c.8517T>A (p.Asp2839Glu)
|
rs1318152994
|
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.8698A>G (p.Ile2900Val)
|
rs747438706
|
0.00001
|
NM_001369.3(DNAH5):c.8777T>C (p.Met2926Thr)
|
rs372071561
|
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.9001A>G (p.Thr3001Ala)
|
rs780283468
|
0.00001
|
NM_001369.3(DNAH5):c.9088G>C (p.Val3030Leu)
|
rs772987380
|
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.9347G>A (p.Arg3116Gln)
|
rs745557874
|
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.9589C>T (p.Arg3197Trp)
|
rs753913853
|
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.9720+5G>A
|
rs763440781
|
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.9897+9A>G
|
rs774932799
|
0.00001
|
NM_001369.3(DNAH5):c.9999A>G (p.Lys3333=)
|
rs1038607014
|
0.00001
|
GRCh37/hg19 5p15.2(chr5:13889938-13919498)x1
|
|
|
NC_000005.10:g.(?_13791974)_(13944458_?)dup
|
|
|
NC_000005.10:g.(?_13791974)_(13944517_?)dup
|
|
|
NC_000005.9:g.(?_13692073)_(13692264_?)dup
|
|
|
NC_000005.9:g.(?_13692093)_(13754467_?)dup
|
|
|
NC_000005.9:g.(?_13840995)_(13841259_?)del
|
|
|
NM_001369.3(DNAH5):c.*1119T>C
|
rs148467464
|
|
NM_001369.3(DNAH5):c.*1342T>G
|
rs886059931
|
|
NM_001369.3(DNAH5):c.*291G>A
|
rs771015963
|
|
NM_001369.3(DNAH5):c.*355G>A
|
rs778207515
|
|
NM_001369.3(DNAH5):c.*563G>A
|
rs189538534
|
|
NM_001369.3(DNAH5):c.*802A>G
|
rs886059932
|
|
NM_001369.3(DNAH5):c.*92G>A
|
rs886059933
|
|
NM_001369.3(DNAH5):c.-8C>A
|
rs199528866
|
|
NM_001369.3(DNAH5):c.-8C>T
|
rs199528866
|
|
NM_001369.3(DNAH5):c.10044C>T (p.Pro3348=)
|
rs369902800
|
|
NM_001369.3(DNAH5):c.10076C>T (p.Ala3359Val)
|
rs1752464443
|
|
NM_001369.3(DNAH5):c.1013C>G (p.Thr338Ser)
|
rs1390111024
|
|
NM_001369.3(DNAH5):c.10190A>G (p.Lys3397Arg)
|
|
|
NM_001369.3(DNAH5):c.10196T>C (p.Val3399Ala)
|
|
|
NM_001369.3(DNAH5):c.10198T>C (p.Cys3400Arg)
|
|
|
NM_001369.3(DNAH5):c.1022C>T (p.Ala341Val)
|
rs1776738425
|
|
NM_001369.3(DNAH5):c.10286A>G (p.Asn3429Ser)
|
rs1580095416
|
|
NM_001369.3(DNAH5):c.10301A>G (p.Glu3434Gly)
|
rs1751407075
|
|
NM_001369.3(DNAH5):c.10307G>A (p.Arg3436His)
|
|
|
NM_001369.3(DNAH5):c.10326G>T (p.Gln3442His)
|
|
|
NM_001369.3(DNAH5):c.10345G>A (p.Ala3449Thr)
|
|
|
NM_001369.3(DNAH5):c.1035G>A (p.Val345=)
|
rs150335023
|
|
NM_001369.3(DNAH5):c.10381G>A (p.Val3461Met)
|
|
|
NM_001369.3(DNAH5):c.10405A>G (p.Met3469Val)
|
|
|
NM_001369.3(DNAH5):c.10415A>G (p.Lys3472Arg)
|
rs1057517890
|
|
NM_001369.3(DNAH5):c.10420-3T>C
|
rs1172050367
|
|
NM_001369.3(DNAH5):c.10421C>T (p.Thr3474Ile)
|
|
|
NM_001369.3(DNAH5):c.10436C>A (p.Ala3479Glu)
|
|
|
NM_001369.3(DNAH5):c.10442G>A (p.Arg3481Gln)
|
rs202169624
|
|
NM_001369.3(DNAH5):c.10470C>T (p.Ser3490=)
|
rs1750680564
|
|
NM_001369.3(DNAH5):c.104C>T (p.Ala35Val)
|
|
|
NM_001369.3(DNAH5):c.10552G>C (p.Val3518Leu)
|
|
|
NM_001369.3(DNAH5):c.10556-15T>C
|
rs754992743
|
|
NM_001369.3(DNAH5):c.10558G>T (p.Asp3520Tyr)
|
rs766829989
|
|
NM_001369.3(DNAH5):c.10559A>T (p.Asp3520Val)
|
|
|
NM_001369.3(DNAH5):c.10565T>G (p.Leu3522Arg)
|
|
|
NM_001369.3(DNAH5):c.10619A>C (p.Asp3540Ala)
|
rs1580068395
|
|
NM_001369.3(DNAH5):c.10634A>T (p.Asp3545Val)
|
|
|
NM_001369.3(DNAH5):c.10639C>G (p.Arg3547Gly)
|
rs747041428
|
|
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.10712CTA[1] (p.Thr3572del)
|
rs773869600
|
|
NM_001369.3(DNAH5):c.10731C>A (p.Asn3577Lys)
|
rs376292253
|
|
NM_001369.3(DNAH5):c.10784C>A (p.Thr3595Lys)
|
|
|
NM_001369.3(DNAH5):c.10789G>C (p.Ala3597Pro)
|
rs368959723
|
|
NM_001369.3(DNAH5):c.10820A>G (p.Gln3607Arg)
|
|
|
NM_001369.3(DNAH5):c.10835T>A (p.Ile3612Asn)
|
|
|
NM_001369.3(DNAH5):c.10839G>C (p.Trp3613Cys)
|
rs1750508726
|
|
NM_001369.3(DNAH5):c.10859G>T (p.Arg3620Leu)
|
rs547014532
|
|
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.1089C>T (p.Pro363=)
|
|
|
NM_001369.3(DNAH5):c.1090-6T>C
|
rs886060015
|
|
NM_001369.3(DNAH5):c.10937C>A (p.Pro3646His)
|
|
|
NM_001369.3(DNAH5):c.10946T>G (p.Ile3649Ser)
|
|
|
NM_001369.3(DNAH5):c.10973C>T (p.Pro3658Leu)
|
|
|
NM_001369.3(DNAH5):c.10974A>G (p.Pro3658=)
|
rs774653078
|
|
NM_001369.3(DNAH5):c.10983T>A (p.Asp3661Glu)
|
rs886059971
|
|
NM_001369.3(DNAH5):c.11005A>C (p.Ile3669Leu)
|
|
|
NM_001369.3(DNAH5):c.11015G>A (p.Gly3672Glu)
|
|
|
NM_001369.3(DNAH5):c.11016G>T (p.Gly3672=)
|
rs1580060938
|
|
NM_001369.3(DNAH5):c.11018C>T (p.Ser3673Phe)
|
rs1554034235
|
|
NM_001369.3(DNAH5):c.11028+5G>A
|
rs1419129615
|
|
NM_001369.3(DNAH5):c.11029G>T (p.Val3677Leu)
|
rs2126690194
|
|
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.11063A>G (p.Asp3688Gly)
|
rs878854454
|
|
NM_001369.3(DNAH5):c.11069T>G (p.Phe3690Cys)
|
rs1750171725
|
|
NM_001369.3(DNAH5):c.11072G>C (p.Arg3691Thr)
|
|
|
NM_001369.3(DNAH5):c.11078A>G (p.Tyr3693Cys)
|
|
|
NM_001369.3(DNAH5):c.11087C>T (p.Thr3696Ile)
|
|
|
NM_001369.3(DNAH5):c.11128C>T (p.Arg3710Cys)
|
|
|
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.11189G>C (p.Arg3730Thr)
|
|
|
NM_001369.3(DNAH5):c.11198T>C (p.Leu3733Pro)
|
|
|
NM_001369.3(DNAH5):c.11211+4A>T
|
|
|
NM_001369.3(DNAH5):c.11456-7C>T
|
|
|
NM_001369.3(DNAH5):c.11462C>G (p.Thr3821Arg)
|
rs374858945
|
|
NM_001369.3(DNAH5):c.11464C>T (p.Arg3822Trp)
|
|
|
NM_001369.3(DNAH5):c.11500C>T (p.Arg3834Cys)
|
rs1579972564
|
|
NM_001369.3(DNAH5):c.11534G>A (p.Arg3845His)
|
|
|
NM_001369.3(DNAH5):c.11546G>A (p.Gly3849Asp)
|
|
|
NM_001369.3(DNAH5):c.11557C>A (p.Leu3853Ile)
|
|
|
NM_001369.3(DNAH5):c.11585C>G (p.Pro3862Arg)
|
rs763954304
|
|
NM_001369.3(DNAH5):c.1160A>G (p.Tyr387Cys)
|
|
|
NM_001369.3(DNAH5):c.11614A>T (p.Ile3872Phe)
|
rs572139897
|
|
NM_001369.3(DNAH5):c.11620C>G (p.His3874Asp)
|
|
|
NM_001369.3(DNAH5):c.11623A>G (p.Met3875Val)
|
rs1044439678
|
|
NM_001369.3(DNAH5):c.11625G>T (p.Met3875Ile)
|
|
|
NM_001369.3(DNAH5):c.11632G>A (p.Glu3878Lys)
|
|
|
NM_001369.3(DNAH5):c.1171G>A (p.Glu391Lys)
|
|
|
NM_001369.3(DNAH5):c.11726G>A (p.Arg3909Gln)
|
rs761043906
|
|
NM_001369.3(DNAH5):c.11744T>C (p.Phe3915Ser)
|
|
|
NM_001369.3(DNAH5):c.11753T>C (p.Leu3918Pro)
|
rs2126606502
|
|
NM_001369.3(DNAH5):c.11794C>A (p.Pro3932Thr)
|
rs1746210228
|
|
NM_001369.3(DNAH5):c.11803T>A (p.Ser3935Thr)
|
rs145685491
|
|
NM_001369.3(DNAH5):c.11803T>C (p.Ser3935Pro)
|
rs145685491
|
|
NM_001369.3(DNAH5):c.11870A>G (p.Asp3957Gly)
|
|
|
NM_001369.3(DNAH5):c.11932C>T (p.Pro3978Ser)
|
|
|
NM_001369.3(DNAH5):c.11938G>A (p.Glu3980Lys)
|
rs1221618846
|
|
NM_001369.3(DNAH5):c.11986C>T (p.Arg3996Cys)
|
rs886059970
|
|
NM_001369.3(DNAH5):c.12002G>T (p.Arg4001Ile)
|
|
|
NM_001369.3(DNAH5):c.12004T>A (p.Ser4002Thr)
|
|
|
NM_001369.3(DNAH5):c.12033+7A>C
|
rs77541151
|
|
NM_001369.3(DNAH5):c.12038G>A (p.Arg4013His)
|
|
|
NM_001369.3(DNAH5):c.12041A>G (p.Lys4014Arg)
|
|
|
NM_001369.3(DNAH5):c.12044A>C (p.Tyr4015Ser)
|
rs1060501463
|
|
NM_001369.3(DNAH5):c.1206T>G (p.Asn402Lys)
|
|
|
NM_001369.3(DNAH5):c.12071A>C (p.Tyr4024Ser)
|
|
|
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.12179T>C (p.Ile4060Thr)
|
|
|
NM_001369.3(DNAH5):c.12197T>C (p.Leu4066Ser)
|
|
|
NM_001369.3(DNAH5):c.12223A>G (p.Met4075Val)
|
|
|
NM_001369.3(DNAH5):c.12230A>G (p.Gln4077Arg)
|
|
|
NM_001369.3(DNAH5):c.12241G>A (p.Val4081Ile)
|
|
|
NM_001369.3(DNAH5):c.12248C>A (p.Ala4083Asp)
|
rs1201132518
|
|
NM_001369.3(DNAH5):c.12251G>T (p.Arg4084Leu)
|
|
|
NM_001369.3(DNAH5):c.12275C>T (p.Ala4092Val)
|
|
|
NM_001369.3(DNAH5):c.12279+6G>C
|
rs762179184
|
|
NM_001369.3(DNAH5):c.12279C>T (p.Asn4093=)
|
|
|
NM_001369.3(DNAH5):c.12315A>G (p.Gly4105=)
|
rs2126519204
|
|
NM_001369.3(DNAH5):c.12326T>C (p.Met4109Thr)
|
rs1744695650
|
|
NM_001369.3(DNAH5):c.1234A>G (p.Ile412Val)
|
rs1580867247
|
|
NM_001369.3(DNAH5):c.12353A>G (p.Glu4118Gly)
|
|
|
NM_001369.3(DNAH5):c.12355A>G (p.Thr4119Ala)
|
|
|
NM_001369.3(DNAH5):c.12373G>C (p.Ala4125Pro)
|
rs757737381
|
|
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.12404A>G (p.His4135Arg)
|
|
|
NM_001369.3(DNAH5):c.12414T>A (p.Phe4138Leu)
|
|
|
NM_001369.3(DNAH5):c.12415C>G (p.Pro4139Ala)
|
|
|
NM_001369.3(DNAH5):c.12419T>C (p.Ile4140Thr)
|
|
|
NM_001369.3(DNAH5):c.12454G>C (p.Asp4152His)
|
|
|
NM_001369.3(DNAH5):c.1246G>A (p.Gly416Arg)
|
|
|
NM_001369.3(DNAH5):c.12500-14A>G
|
rs2126510171
|
|
NM_001369.3(DNAH5):c.12500-3C>T
|
rs1311123080
|
|
NM_001369.3(DNAH5):c.12513C>A (p.Asp4171Glu)
|
rs547445590
|
|
NM_001369.3(DNAH5):c.12513C>G (p.Asp4171Glu)
|
|
|
NM_001369.3(DNAH5):c.12521A>G (p.Asp4174Gly)
|
rs1554020311
|
|
NM_001369.3(DNAH5):c.1252G>A (p.Ala418Thr)
|
|
|
NM_001369.3(DNAH5):c.12557A>G (p.Tyr4186Cys)
|
rs368413636
|
|
NM_001369.3(DNAH5):c.12572T>C (p.Leu4191Pro)
|
rs1312032248
|
|
NM_001369.3(DNAH5):c.12586C>G (p.Gln4196Glu)
|
rs886059965
|
|
NM_001369.3(DNAH5):c.12587A>G (p.Gln4196Arg)
|
|
|
NM_001369.3(DNAH5):c.12601T>C (p.Phe4201Leu)
|
|
|
NM_001369.3(DNAH5):c.12644C>T (p.Ala4215Val)
|
|
|
NM_001369.3(DNAH5):c.12646G>A (p.Asp4216Asn)
|
|
|
NM_001369.3(DNAH5):c.12685G>A (p.Asp4229Asn)
|
|
|
NM_001369.3(DNAH5):c.12708_12709inv (p.Val4237Ile)
|
|
|
NM_001369.3(DNAH5):c.12709G>T (p.Val4237Phe)
|
rs138045391
|
|
NM_001369.3(DNAH5):c.12779A>T (p.Asp4260Val)
|
rs1744309029
|
|
NM_001369.3(DNAH5):c.12785G>A (p.Arg4262Lys)
|
rs1744308032
|
|
NM_001369.3(DNAH5):c.1280T>C (p.Val427Ala)
|
|
|
NM_001369.3(DNAH5):c.1282G>A (p.Val428Ile)
|
|
|
NM_001369.3(DNAH5):c.12851A>G (p.Tyr4284Cys)
|
|
|
NM_001369.3(DNAH5):c.12906C>G (p.Ile4302Met)
|
|
|
NM_001369.3(DNAH5):c.12907C>G (p.Gln4303Glu)
|
|
|
NM_001369.3(DNAH5):c.12934G>A (p.Glu4312Lys)
|
|
|
NM_001369.3(DNAH5):c.12936G>A (p.Glu4312=)
|
rs773285536
|
|
NM_001369.3(DNAH5):c.12944G>A (p.Gly4315Glu)
|
|
|
NM_001369.3(DNAH5):c.12975G>C (p.Gln4325His)
|
|
|
NM_001369.3(DNAH5):c.12997C>A (p.Leu4333Met)
|
rs1217758791
|
|
NM_001369.3(DNAH5):c.13013G>C (p.Gly4338Ala)
|
rs1744030966
|
|
NM_001369.3(DNAH5):c.13015A>C (p.Ile4339Leu)
|
|
|
NM_001369.3(DNAH5):c.13037G>A (p.Gly4346Asp)
|
|
|
NM_001369.3(DNAH5):c.13037G>T (p.Gly4346Val)
|
rs371027404
|
|
NM_001369.3(DNAH5):c.1304C>T (p.Ala435Val)
|
|
|
NM_001369.3(DNAH5):c.13055G>A (p.Arg4352Gln)
|
|
|
NM_001369.3(DNAH5):c.13112A>G (p.Tyr4371Cys)
|
|
|
NM_001369.3(DNAH5):c.13114G>A (p.Val4372Ile)
|
rs1744009916
|
|
NM_001369.3(DNAH5):c.13180A>G (p.Arg4394Gly)
|
rs1446970822
|
|
NM_001369.3(DNAH5):c.13199T>C (p.Met4400Thr)
|
|
|
NM_001369.3(DNAH5):c.1319A>G (p.Gln440Arg)
|
rs2151982078
|
|
NM_001369.3(DNAH5):c.13223G>A (p.Arg4408His)
|
|
|
NM_001369.3(DNAH5):c.13231C>G (p.Leu4411Val)
|
rs941923241
|
|
NM_001369.3(DNAH5):c.13232T>C (p.Leu4411Pro)
|
|
|
NM_001369.3(DNAH5):c.13252A>G (p.Ile4418Val)
|
|
|
NM_001369.3(DNAH5):c.13266C>G (p.Ile4422Met)
|
rs1561084758
|
|
NM_001369.3(DNAH5):c.13269C>G (p.Ile4423Met)
|
|
|
NM_001369.3(DNAH5):c.13301G>A (p.Cys4434Tyr)
|
|
|
NM_001369.3(DNAH5):c.1331T>C (p.Leu444Pro)
|
|
|
NM_001369.3(DNAH5):c.13331G>T (p.Trp4444Leu)
|
rs1060501467
|
|
NM_001369.3(DNAH5):c.13358_13359inv (p.Thr4453Met)
|
|
|
NM_001369.3(DNAH5):c.13364G>A (p.Gly4455Asp)
|
rs370684795
|
|
NM_001369.3(DNAH5):c.13369T>G (p.Trp4457Gly)
|
rs1427121789
|
|
NM_001369.3(DNAH5):c.13385T>C (p.Ile4462Thr)
|
|
|
NM_001369.3(DNAH5):c.1339C>T (p.His447Tyr)
|
|
|
NM_001369.3(DNAH5):c.13405A>G (p.Thr4469Ala)
|
|
|
NM_001369.3(DNAH5):c.13412G>T (p.Trp4471Leu)
|
|
|
NM_001369.3(DNAH5):c.1341C>T (p.His447=)
|
rs886060014
|
|
NM_001369.3(DNAH5):c.13481C>A (p.Ala4494Glu)
|
|
|
NM_001369.3(DNAH5):c.13481C>T (p.Ala4494Val)
|
rs756228394
|
|
NM_001369.3(DNAH5):c.13485G>A (p.Met4495Ile)
|
|
|
NM_001369.3(DNAH5):c.13491+8C>A
|
|
|
NM_001369.3(DNAH5):c.13491+8C>T
|
rs1742074967
|
|
NM_001369.3(DNAH5):c.13513G>T (p.Gly4505Cys)
|
rs1742005673
|
|
NM_001369.3(DNAH5):c.13519G>C (p.Ala4507Pro)
|
|
|
NM_001369.3(DNAH5):c.13535T>C (p.Val4512Ala)
|
rs1742002283
|
|
NM_001369.3(DNAH5):c.13543A>G (p.Asn4515Asp)
|
|
|
NM_001369.3(DNAH5):c.13548A>C (p.Glu4516Asp)
|
|
|
NM_001369.3(DNAH5):c.13569C>A (p.Asp4523Glu)
|
rs151080414
|
|
NM_001369.3(DNAH5):c.13570G>A (p.Asp4524Asn)
|
|
|
NM_001369.3(DNAH5):c.13593_13594delinsAT (p.Gly4532Cys)
|
|
|
NM_001369.3(DNAH5):c.13609G>T (p.Gly4537Cys)
|
rs1741988812
|
|
NM_001369.3(DNAH5):c.13625G>A (p.Gly4542Asp)
|
|
|
NM_001369.3(DNAH5):c.13628C>T (p.Ala4543Val)
|
rs2126404399
|
|
NM_001369.3(DNAH5):c.13630G>A (p.Gly4544Ser)
|
rs747063945
|
|
NM_001369.3(DNAH5):c.13638C>G (p.Asp4546Glu)
|
rs1741981670
|
|
NM_001369.3(DNAH5):c.13643G>A (p.Arg4548Lys)
|
|
|
NM_001369.3(DNAH5):c.13699A>T (p.Ile4567Leu)
|
|
|
NM_001369.3(DNAH5):c.13714G>A (p.Glu4572Lys)
|
rs768846678
|
|
NM_001369.3(DNAH5):c.13718A>G (p.Asn4573Ser)
|
|
|
NM_001369.3(DNAH5):c.13734T>C (p.Asp4578=)
|
rs1740774348
|
|
NM_001369.3(DNAH5):c.13747T>C (p.Ser4583Pro)
|
rs770287375
|
|
NM_001369.3(DNAH5):c.13753C>T (p.Pro4585Ser)
|
|
|
NM_001369.3(DNAH5):c.1375G>A (p.Ala459Thr)
|
|
|
NM_001369.3(DNAH5):c.13760A>G (p.Tyr4587Cys)
|
rs1320036244
|
|
NM_001369.3(DNAH5):c.13765A>G (p.Lys4589Glu)
|
rs1397044941
|
|
NM_001369.3(DNAH5):c.13775G>C (p.Arg4592Pro)
|
rs367709427
|
|
NM_001369.3(DNAH5):c.13817C>A (p.Ala4606Asp)
|
rs770244453
|
|
NM_001369.3(DNAH5):c.13825C>A (p.Pro4609Thr)
|
rs886059934
|
|
NM_001369.3(DNAH5):c.13825C>G (p.Pro4609Ala)
|
|
|
NM_001369.3(DNAH5):c.13844G>C (p.Arg4615Pro)
|
|
|
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.1405A>G (p.Ile469Val)
|
rs754377047
|
|
NM_001369.3(DNAH5):c.1438C>T (p.Leu480Phe)
|
rs1580863552
|
|
NM_001369.3(DNAH5):c.1463C>G (p.Thr488Arg)
|
|
|
NM_001369.3(DNAH5):c.1466C>T (p.Thr489Ile)
|
rs764562876
|
|
NM_001369.3(DNAH5):c.1475C>A (p.Thr492Lys)
|
rs189145014
|
|
NM_001369.3(DNAH5):c.1475C>T (p.Thr492Met)
|
rs189145014
|
|
NM_001369.3(DNAH5):c.1501A>G (p.Ile501Val)
|
|
|
NM_001369.3(DNAH5):c.1501_1503delinsGTC (p.Ile501Val)
|
rs1554101056
|
|
NM_001369.3(DNAH5):c.1522G>A (p.Ala508Thr)
|
|
|
NM_001369.3(DNAH5):c.1523C>A (p.Ala508Asp)
|
|
|
NM_001369.3(DNAH5):c.1528A>G (p.Lys510Glu)
|
|
|
NM_001369.3(DNAH5):c.1536G>A (p.Gln512=)
|
rs541266118
|
|
NM_001369.3(DNAH5):c.1578A>G (p.Leu526=)
|
rs1775984639
|
|
NM_001369.3(DNAH5):c.1585C>T (p.Arg529Trp)
|
rs200452908
|
|
NM_001369.3(DNAH5):c.1586G>A (p.Arg529Gln)
|
|
|
NM_001369.3(DNAH5):c.1602C>A (p.Asp534Glu)
|
rs753367747
|
|
NM_001369.3(DNAH5):c.1638C>A (p.Asp546Glu)
|
rs375037194
|
|
NM_001369.3(DNAH5):c.1639C>T (p.Leu547Phe)
|
rs1775975227
|
|
NM_001369.3(DNAH5):c.1642C>T (p.His548Tyr)
|
|
|
NM_001369.3(DNAH5):c.1643A>C (p.His548Pro)
|
|
|
NM_001369.3(DNAH5):c.1643A>G (p.His548Arg)
|
|
|
NM_001369.3(DNAH5):c.1645-8T>G
|
rs2151964175
|
|
NM_001369.3(DNAH5):c.1654C>T (p.Arg552Trp)
|
|
|
NM_001369.3(DNAH5):c.1667A>G (p.Asp556Gly)
|
rs1774708439
|
|
NM_001369.3(DNAH5):c.1683G>C (p.Lys561Asn)
|
|
|
NM_001369.3(DNAH5):c.1696A>G (p.Asn566Asp)
|
|
|
NM_001369.3(DNAH5):c.1756G>T (p.Asp586Tyr)
|
|
|
NM_001369.3(DNAH5):c.1766A>C (p.Tyr589Ser)
|
|
|
NM_001369.3(DNAH5):c.1792G>A (p.Ala598Thr)
|
rs863224706
|
|
NM_001369.3(DNAH5):c.1799T>C (p.Ile600Thr)
|
|
|
NM_001369.3(DNAH5):c.1828C>G (p.Gln610Glu)
|
|
|
NM_001369.3(DNAH5):c.1884G>A (p.Leu628=)
|
rs534702284
|
|
NM_001369.3(DNAH5):c.1891C>T (p.Arg631Cys)
|
|
|
NM_001369.3(DNAH5):c.1896G>C (p.Gln632His)
|
|
|
NM_001369.3(DNAH5):c.1896G>T (p.Gln632His)
|
rs746476934
|
|
NM_001369.3(DNAH5):c.1900T>C (p.Phe634Leu)
|
rs1580809647
|
|
NM_001369.3(DNAH5):c.1913A>G (p.Gln638Arg)
|
rs1774599890
|
|
NM_001369.3(DNAH5):c.192+5G>A
|
|
|
NM_001369.3(DNAH5):c.193-3C>A
|
|
|
NM_001369.3(DNAH5):c.193A>T (p.Ile65Phe)
|
|
|
NM_001369.3(DNAH5):c.1981C>T (p.Arg661Cys)
|
|
|
NM_001369.3(DNAH5):c.2004G>C (p.Lys668Asn)
|
rs1226480889
|
|
NM_001369.3(DNAH5):c.2047C>A (p.Arg683=)
|
rs182512638
|
|
NM_001369.3(DNAH5):c.2052+3G>C
|
|
|
NM_001369.3(DNAH5):c.2052+6_2052+7delinsAG
|
rs1057518277
|
|
NM_001369.3(DNAH5):c.2054T>C (p.Ile685Thr)
|
|
|
NM_001369.3(DNAH5):c.2071G>A (p.Gly691Ser)
|
rs866977828
|
|
NM_001369.3(DNAH5):c.2072G>A (p.Gly691Asp)
|
|
|
NM_001369.3(DNAH5):c.2098G>C (p.Ala700Pro)
|
|
|
NM_001369.3(DNAH5):c.2104G>C (p.Gly702Arg)
|
|
|
NM_001369.3(DNAH5):c.2119T>C (p.Phe707Leu)
|
rs956123437
|
|
NM_001369.3(DNAH5):c.2126A>G (p.Asn709Ser)
|
rs1774434030
|
|
NM_001369.3(DNAH5):c.2193C>T (p.Val731=)
|
rs766072810
|
|
NM_001369.3(DNAH5):c.220G>A (p.Val74Ile)
|
|
|
NM_001369.3(DNAH5):c.2225G>A (p.Arg742Gln)
|
|
|
NM_001369.3(DNAH5):c.2250T>G (p.Ser750Arg)
|
rs1458551560
|
|
NM_001369.3(DNAH5):c.2254A>G (p.Met752Val)
|
|
|
NM_001369.3(DNAH5):c.2260-2552G>T
|
|
|
NM_001369.3(DNAH5):c.2283A>C (p.Arg761Ser)
|
|
|
NM_001369.3(DNAH5):c.2298A>G (p.Ile766Met)
|
|
|
NM_001369.3(DNAH5):c.2311G>A (p.Glu771Lys)
|
rs1216239202
|
|
NM_001369.3(DNAH5):c.2339A>C (p.Lys780Thr)
|
rs1773692803
|
|
NM_001369.3(DNAH5):c.2380T>C (p.Trp794Arg)
|
|
|
NM_001369.3(DNAH5):c.2382G>T (p.Trp794Cys)
|
rs2151953467
|
|
NM_001369.3(DNAH5):c.2428A>G (p.Ile810Val)
|
|
|
NM_001369.3(DNAH5):c.2432-3A>G
|
|
|
NM_001369.3(DNAH5):c.2461A>G (p.Asn821Asp)
|
|
|
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.2487T>A (p.Asp829Glu)
|
rs2151948949
|
|
NM_001369.3(DNAH5):c.2504T>A (p.Met835Lys)
|
rs1554092890
|
|
NM_001369.3(DNAH5):c.2536G>A (p.Glu846Lys)
|
rs1773148161
|
|
NM_001369.3(DNAH5):c.2577+5T>G
|
rs201596289
|
|
NM_001369.3(DNAH5):c.2578-5del
|
rs752460183
|
|
NM_001369.3(DNAH5):c.2578-8_2578-6del
|
rs886060011
|
|
NM_001369.3(DNAH5):c.2578-9_2578-7del
|
rs71600031
|
|
NM_001369.3(DNAH5):c.2578G>A (p.Asp860Asn)
|
|
|
NM_001369.3(DNAH5):c.2581C>G (p.Leu861Val)
|
|
|
NM_001369.3(DNAH5):c.2581C>T (p.Leu861Phe)
|
rs753213789
|
|
NM_001369.3(DNAH5):c.2594G>T (p.Gly865Val)
|
rs886060008
|
|
NM_001369.3(DNAH5):c.259G>A (p.Val87Met)
|
rs1778067241
|
|
NM_001369.3(DNAH5):c.2648T>C (p.Leu883Pro)
|
rs2151943048
|
|
NM_001369.3(DNAH5):c.265G>A (p.Glu89Lys)
|
|
|
NM_001369.3(DNAH5):c.2700A>C (p.Lys900Asn)
|
|
|
NM_001369.3(DNAH5):c.2717G>C (p.Ser906Thr)
|
rs540038644
|
|
NM_001369.3(DNAH5):c.2719G>A (p.Val907Ile)
|
rs1772373275
|
|
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.2743+12G>A
|
rs1380292180
|
|
NM_001369.3(DNAH5):c.2743+3A>T
|
rs752170130
|
|
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.2780C>T (p.Ser927Leu)
|
|
|
NM_001369.3(DNAH5):c.2804C>T (p.Ala935Val)
|
rs1457781570
|
|
NM_001369.3(DNAH5):c.283C>G (p.Leu95Val)
|
rs757542755
|
|
NM_001369.3(DNAH5):c.283C>T (p.Leu95Phe)
|
|
|
NM_001369.3(DNAH5):c.2847G>C (p.Glu949Asp)
|
|
|
NM_001369.3(DNAH5):c.2867G>A (p.Arg956His)
|
rs752260329
|
|
NM_001369.3(DNAH5):c.2869G>A (p.Glu957Lys)
|
|
|
NM_001369.3(DNAH5):c.2899A>C (p.Met967Leu)
|
|
|
NM_001369.3(DNAH5):c.2939C>A (p.Ala980Asp)
|
rs2151941469
|
|
NM_001369.3(DNAH5):c.294A>T (p.Leu98=)
|
rs1458038548
|
|
NM_001369.3(DNAH5):c.2953A>G (p.Ile985Val)
|
rs377668816
|
|
NM_001369.3(DNAH5):c.2963C>T (p.Ser988Phe)
|
|
|
NM_001369.3(DNAH5):c.2980C>G (p.Arg994Gly)
|
|
|
NM_001369.3(DNAH5):c.2988T>G (p.Ser996Arg)
|
|
|
NM_001369.3(DNAH5):c.2995G>T (p.Ala999Ser)
|
|
|
NM_001369.3(DNAH5):c.2998T>G (p.Ser1000Ala)
|
|
|
NM_001369.3(DNAH5):c.3003C>A (p.Asn1001Lys)
|
rs752944631
|
|
NM_001369.3(DNAH5):c.3005T>C (p.Met1002Thr)
|
|
|
NM_001369.3(DNAH5):c.3006G>C (p.Met1002Ile)
|
|
|
NM_001369.3(DNAH5):c.3025A>C (p.Ile1009Leu)
|
|
|
NM_001369.3(DNAH5):c.3032G>A (p.Arg1011Gln)
|
|
|
NM_001369.3(DNAH5):c.3038G>A (p.Ser1013Asn)
|
|
|
NM_001369.3(DNAH5):c.3039C>A (p.Ser1013Arg)
|
|
|
NM_001369.3(DNAH5):c.3043A>C (p.Thr1015Pro)
|
rs756780275
|
|
NM_001369.3(DNAH5):c.3050C>T (p.Ala1017Val)
|
rs2151938659
|
|
NM_001369.3(DNAH5):c.3127A>G (p.Ser1043Gly)
|
rs1771881510
|
|
NM_001369.3(DNAH5):c.3175A>G (p.Lys1059Glu)
|
rs1771856279
|
|
NM_001369.3(DNAH5):c.3181A>C (p.Ile1061Leu)
|
|
|
NM_001369.3(DNAH5):c.3181A>G (p.Ile1061Val)
|
|
|
NM_001369.3(DNAH5):c.3190A>G (p.Arg1064Gly)
|
|
|
NM_001369.3(DNAH5):c.3202G>T (p.Ala1068Ser)
|
|
|
NM_001369.3(DNAH5):c.3210G>C (p.Gln1070His)
|
|
|
NM_001369.3(DNAH5):c.3212G>A (p.Ser1071Asn)
|
rs2151938135
|
|
NM_001369.3(DNAH5):c.3248A>T (p.Glu1083Val)
|
|
|
NM_001369.3(DNAH5):c.3263A>G (p.Asp1088Gly)
|
|
|
NM_001369.3(DNAH5):c.3275T>C (p.Ile1092Thr)
|
|
|
NM_001369.3(DNAH5):c.329A>C (p.Lys110Thr)
|
|
|
NM_001369.3(DNAH5):c.3304C>A (p.Gln1102Lys)
|
rs774143246
|
|
NM_001369.3(DNAH5):c.3316TAT[1] (p.Tyr1107del)
|
|
|
NM_001369.3(DNAH5):c.3322A>G (p.Lys1108Glu)
|
|
|
NM_001369.3(DNAH5):c.3383A>G (p.Asn1128Ser)
|
|
|
NM_001369.3(DNAH5):c.3396G>C (p.Lys1132Asn)
|
rs1554087241
|
|
NM_001369.3(DNAH5):c.3415G>C (p.Asp1139His)
|
rs1554085372
|
|
NM_001369.3(DNAH5):c.3446A>G (p.Gln1149Arg)
|
|
|
NM_001369.3(DNAH5):c.3476T>G (p.Phe1159Cys)
|
rs375100071
|
|
NM_001369.3(DNAH5):c.3491C>T (p.Pro1164Leu)
|
rs878854456
|
|
NM_001369.3(DNAH5):c.3538G>A (p.Glu1180Lys)
|
rs1561477933
|
|
NM_001369.3(DNAH5):c.3559C>G (p.Pro1187Ala)
|
|
|
NM_001369.3(DNAH5):c.356A>G (p.Asn119Ser)
|
rs1777508838
|
|
NM_001369.3(DNAH5):c.358G>A (p.Asp120Asn)
|
|
|
NM_001369.3(DNAH5):c.3595A>C (p.Thr1199Pro)
|
rs1770106766
|
|
NM_001369.3(DNAH5):c.3614C>T (p.Ala1205Val)
|
|
|
NM_001369.3(DNAH5):c.3619A>C (p.Thr1207Pro)
|
|
|
NM_001369.3(DNAH5):c.3640A>G (p.Met1214Val)
|
rs766505155
|
|
NM_001369.3(DNAH5):c.3649A>G (p.Ile1217Val)
|
|
|
NM_001369.3(DNAH5):c.3650T>G (p.Ile1217Ser)
|
|
|
NM_001369.3(DNAH5):c.3669A>T (p.Lys1223Asn)
|
|
|
NM_001369.3(DNAH5):c.3671A>G (p.Lys1224Arg)
|
rs1561476005
|
|
NM_001369.3(DNAH5):c.3677G>A (p.Arg1226Gln)
|
rs781418120
|
|
NM_001369.3(DNAH5):c.3708T>G (p.Ile1236Met)
|
|
|
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.3767C>T (p.Ala1256Val)
|
|
|
NM_001369.3(DNAH5):c.3785A>G (p.Glu1262Gly)
|
|
|
NM_001369.3(DNAH5):c.3788T>C (p.Ile1263Thr)
|
|
|
NM_001369.3(DNAH5):c.3795G>C (p.Glu1265Asp)
|
|
|
NM_001369.3(DNAH5):c.3837A>T (p.Glu1279Asp)
|
|
|
NM_001369.3(DNAH5):c.3865C>T (p.Leu1289Phe)
|
|
|
NM_001369.3(DNAH5):c.3935G>A (p.Arg1312His)
|
|
|
NM_001369.3(DNAH5):c.3962T>G (p.Val1321Gly)
|
|
|
NM_001369.3(DNAH5):c.3965C>T (p.Ser1322Leu)
|
|
|
NM_001369.3(DNAH5):c.401A>G (p.Asp134Gly)
|
|
|
NM_001369.3(DNAH5):c.4025G>T (p.Cys1342Phe)
|
|
|
NM_001369.3(DNAH5):c.4037A>T (p.Tyr1346Phe)
|
|
|
NM_001369.3(DNAH5):c.4042G>T (p.Asp1348Tyr)
|
rs368748560
|
|
NM_001369.3(DNAH5):c.4054-12C>G
|
rs1769241274
|
|
NM_001369.3(DNAH5):c.40G>T (p.Val14Phe)
|
|
|
NM_001369.3(DNAH5):c.4108A>G (p.Met1370Val)
|
|
|
NM_001369.3(DNAH5):c.4113T>G (p.Phe1371Leu)
|
rs1561465310
|
|
NM_001369.3(DNAH5):c.4117-5A>G
|
|
|
NM_001369.3(DNAH5):c.4145A>G (p.Tyr1382Cys)
|
rs183833827
|
|
NM_001369.3(DNAH5):c.4171C>A (p.Leu1391Ile)
|
rs1000047685
|
|
NM_001369.3(DNAH5):c.4178G>T (p.Gly1393Val)
|
|
|
NM_001369.3(DNAH5):c.4199C>T (p.Pro1400Leu)
|
rs922374480
|
|
NM_001369.3(DNAH5):c.4208T>C (p.Leu1403Pro)
|
|
|
NM_001369.3(DNAH5):c.4244T>C (p.Ile1415Thr)
|
|
|
NM_001369.3(DNAH5):c.4246T>C (p.Tyr1416His)
|
|
|
NM_001369.3(DNAH5):c.4324A>G (p.Ile1442Val)
|
rs371141184
|
|
NM_001369.3(DNAH5):c.4341A>T (p.Leu1447Phe)
|
rs1769139958
|
|
NM_001369.3(DNAH5):c.4355+6A>C
|
|
|
NM_001369.3(DNAH5):c.4356-15G>A
|
|
|
NM_001369.3(DNAH5):c.4370C>T (p.Pro1457Leu)
|
rs1308493849
|
|
NM_001369.3(DNAH5):c.4373G>T (p.Arg1458Leu)
|
rs61747551
|
|
NM_001369.3(DNAH5):c.4373_4374delinsAT (p.Arg1458His)
|
rs1768954926
|
|
NM_001369.3(DNAH5):c.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.439-3C>T
|
|
|
NM_001369.3(DNAH5):c.441G>C (p.Glu147Asp)
|
rs200732050
|
|
NM_001369.3(DNAH5):c.4431C>A (p.Ser1477Arg)
|
|
|
NM_001369.3(DNAH5):c.4442C>G (p.Pro1481Arg)
|
|
|
NM_001369.3(DNAH5):c.4442C>T (p.Pro1481Leu)
|
rs144958262
|
|
NM_001369.3(DNAH5):c.4469C>T (p.Ala1490Val)
|
rs1768942005
|
|
NM_001369.3(DNAH5):c.446G>A (p.Ser149Asn)
|
|
|
NM_001369.3(DNAH5):c.4474A>G (p.Met1492Val)
|
rs1768940067
|
|
NM_001369.3(DNAH5):c.4498A>G (p.Thr1500Ala)
|
rs886059989
|
|
NM_001369.3(DNAH5):c.4499C>G (p.Thr1500Ser)
|
|
|
NM_001369.3(DNAH5):c.4505T>A (p.Leu1502His)
|
|
|
NM_001369.3(DNAH5):c.4546T>G (p.Leu1516Val)
|
rs1768927489
|
|
NM_001369.3(DNAH5):c.4559T>C (p.Met1520Thr)
|
rs916516633
|
|
NM_001369.3(DNAH5):c.4561G>A (p.Glu1521Lys)
|
|
|
NM_001369.3(DNAH5):c.4568C>T (p.Pro1523Leu)
|
|
|
NM_001369.3(DNAH5):c.4574T>G (p.Leu1525Arg)
|
|
|
NM_001369.3(DNAH5):c.4589A>G (p.Glu1530Gly)
|
|
|
NM_001369.3(DNAH5):c.4591A>T (p.Ile1531Leu)
|
|
|
NM_001369.3(DNAH5):c.4596G>A (p.Glu1532=)
|
|
|
NM_001369.3(DNAH5):c.464C>T (p.Ala155Val)
|
|
|
NM_001369.3(DNAH5):c.4669A>G (p.Asn1557Asp)
|
rs767321919
|
|
NM_001369.3(DNAH5):c.4704T>C (p.Arg1568=)
|
rs1175413447
|
|
NM_001369.3(DNAH5):c.4707A>G (p.Gly1569=)
|
rs886059985
|
|
NM_001369.3(DNAH5):c.4748C>A (p.Ala1583Asp)
|
|
|
NM_001369.3(DNAH5):c.4753A>G (p.Met1585Val)
|
rs1580641242
|
|
NM_001369.3(DNAH5):c.4756G>A (p.Glu1586Lys)
|
rs2151905632
|
|
NM_001369.3(DNAH5):c.4761C>G (p.Asp1587Glu)
|
|
|
NM_001369.3(DNAH5):c.4959G>C (p.Lys1653Asn)
|
rs1207203971
|
|
NM_001369.3(DNAH5):c.4960C>T (p.Arg1654Trp)
|
|
|
NM_001369.3(DNAH5):c.496C>T (p.Arg166Cys)
|
|
|
NM_001369.3(DNAH5):c.4972A>G (p.Ile1658Val)
|
rs535557021
|
|
NM_001369.3(DNAH5):c.5006C>T (p.Ala1669Val)
|
|
|
NM_001369.3(DNAH5):c.5021G>T (p.Ser1674Ile)
|
rs1024785789
|
|
NM_001369.3(DNAH5):c.5022T>A (p.Ser1674Arg)
|
rs758627759
|
|
NM_001369.3(DNAH5):c.5024T>C (p.Val1675Ala)
|
rs2151883811
|
|
NM_001369.3(DNAH5):c.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.5124G>T (p.Glu1708Asp)
|
|
|
NM_001369.3(DNAH5):c.5129A>C (p.Lys1710Thr)
|
|
|
NM_001369.3(DNAH5):c.5130A>C (p.Lys1710Asn)
|
|
|
NM_001369.3(DNAH5):c.5147G>A (p.Arg1716Gln)
|
|
|
NM_001369.3(DNAH5):c.5158G>C (p.Val1720Leu)
|
|
|
NM_001369.3(DNAH5):c.5195C>T (p.Ala1732Val)
|
|
|
NM_001369.3(DNAH5):c.5206C>A (p.His1736Asn)
|
|
|
NM_001369.3(DNAH5):c.5212A>C (p.Ile1738Leu)
|
|
|
NM_001369.3(DNAH5):c.5212A>G (p.Ile1738Val)
|
|
|
NM_001369.3(DNAH5):c.5219C>T (p.Ala1740Val)
|
rs1554074458
|
|
NM_001369.3(DNAH5):c.521C>G (p.Pro174Arg)
|
|
|
NM_001369.3(DNAH5):c.5245A>G (p.Ile1749Val)
|
rs1423005409
|
|
NM_001369.3(DNAH5):c.5246T>G (p.Ile1749Ser)
|
|
|
NM_001369.3(DNAH5):c.5252C>A (p.Ser1751Tyr)
|
rs2151870055
|
|
NM_001369.3(DNAH5):c.5262C>G (p.Phe1754Leu)
|
rs1765751014
|
|
NM_001369.3(DNAH5):c.5271+5G>A
|
rs749394641
|
|
NM_001369.3(DNAH5):c.5271G>T (p.Lys1757Asn)
|
rs1293906490
|
|
NM_001369.3(DNAH5):c.5272-13dup
|
rs886059980
|
|
NM_001369.3(DNAH5):c.5272-15dup
|
rs35337694
|
|
NM_001369.3(DNAH5):c.5272-17_5272-15dup
|
rs35337694
|
|
NM_001369.3(DNAH5):c.5272-8dup
|
rs886059979
|
|
NM_001369.3(DNAH5):c.5272-9C>T
|
rs555481241
|
|
NM_001369.3(DNAH5):c.5281C>A (p.Arg1761=)
|
rs148891849
|
|
NM_001369.3(DNAH5):c.5282G>A (p.Arg1761Gln)
|
|
|
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.536C>A (p.Thr179Lys)
|
rs747116308
|
|
NM_001369.3(DNAH5):c.5392T>C (p.Ser1798Pro)
|
rs1060501468
|
|
NM_001369.3(DNAH5):c.5396C>T (p.Ser1799Leu)
|
rs727503903
|
|
NM_001369.3(DNAH5):c.5399T>C (p.Leu1800Ser)
|
rs1580524265
|
|
NM_001369.3(DNAH5):c.5439A>T (p.Glu1813Asp)
|
rs754274080
|
|
NM_001369.3(DNAH5):c.5509A>C (p.Ile1837Leu)
|
rs2151860552
|
|
NM_001369.3(DNAH5):c.5515A>G (p.Thr1839Ala)
|
|
|
NM_001369.3(DNAH5):c.5519G>A (p.Arg1840Gln)
|
|
|
NM_001369.3(DNAH5):c.5538T>G (p.Leu1846=)
|
rs886059978
|
|
NM_001369.3(DNAH5):c.5553T>G (p.Phe1851Leu)
|
|
|
NM_001369.3(DNAH5):c.556C>A (p.Leu186Ile)
|
rs1554104341
|
|
NM_001369.3(DNAH5):c.5578A>G (p.Asn1860Asp)
|
|
|
NM_001369.3(DNAH5):c.5582A>C (p.Gln1861Pro)
|
rs780320440
|
|
NM_001369.3(DNAH5):c.5583G>T (p.Gln1861His)
|
|
|
NM_001369.3(DNAH5):c.5606C>T (p.Thr1869Ile)
|
|
|
NM_001369.3(DNAH5):c.5608T>C (p.Leu1870=)
|
rs763656985
|
|
NM_001369.3(DNAH5):c.5614G>A (p.Asp1872Asn)
|
rs2151860259
|
|
NM_001369.3(DNAH5):c.561G>C (p.Glu187Asp)
|
|
|
NM_001369.3(DNAH5):c.5660A>G (p.Glu1887Gly)
|
|
|
NM_001369.3(DNAH5):c.5669T>C (p.Ile1890Thr)
|
|
|
NM_001369.3(DNAH5):c.566T>C (p.Leu189Pro)
|
rs1777384254
|
|
NM_001369.3(DNAH5):c.5710T>C (p.Cys1904Arg)
|
|
|
NM_001369.3(DNAH5):c.5720A>C (p.His1907Pro)
|
|
|
NM_001369.3(DNAH5):c.5729G>A (p.Ser1910Asn)
|
|
|
NM_001369.3(DNAH5):c.5745G>T (p.Glu1915Asp)
|
|
|
NM_001369.3(DNAH5):c.5785G>C (p.Asp1929His)
|
rs1554072085
|
|
NM_001369.3(DNAH5):c.5790GAT[2] (p.Met1932del)
|
|
|
NM_001369.3(DNAH5):c.57G>A (p.Thr19=)
|
|
|
NM_001369.3(DNAH5):c.57G>T (p.Thr19=)
|
rs142969794
|
|
NM_001369.3(DNAH5):c.57_57+1delinsAA
|
rs1560984816
|
|
NM_001369.3(DNAH5):c.5816C>T (p.Ala1939Val)
|
|
|
NM_001369.3(DNAH5):c.5821A>G (p.Ile1941Val)
|
rs754033261
|
|
NM_001369.3(DNAH5):c.5824T>A (p.Tyr1942Asn)
|
|
|
NM_001369.3(DNAH5):c.5846G>A (p.Cys1949Tyr)
|
|
|
NM_001369.3(DNAH5):c.5880C>T (p.Asp1960=)
|
rs1764848840
|
|
NM_001369.3(DNAH5):c.5885G>A (p.Cys1962Tyr)
|
|
|
NM_001369.3(DNAH5):c.5918G>A (p.Ser1973Asn)
|
|
|
NM_001369.3(DNAH5):c.5929G>C (p.Ala1977Pro)
|
|
|
NM_001369.3(DNAH5):c.5931C>T (p.Ala1977=)
|
rs886043125
|
|
NM_001369.3(DNAH5):c.5936C>T (p.Ala1979Val)
|
|
|
NM_001369.3(DNAH5):c.594G>C (p.Glu198Asp)
|
|
|
NM_001369.3(DNAH5):c.5987_5998del (p.Cys1996_Lys1999del)
|
|
|
NM_001369.3(DNAH5):c.5989C>T (p.Leu1997Phe)
|
|
|
NM_001369.3(DNAH5):c.599T>G (p.Leu200Trp)
|
|
|
NM_001369.3(DNAH5):c.6001G>A (p.Val2001Ile)
|
|
|
NM_001369.3(DNAH5):c.6001G>T (p.Val2001Phe)
|
|
|
NM_001369.3(DNAH5):c.6014A>G (p.Asn2005Ser)
|
rs1375968864
|
|
NM_001369.3(DNAH5):c.6044T>C (p.Leu2015Pro)
|
|
|
NM_001369.3(DNAH5):c.6049C>G (p.Arg2017Gly)
|
|
|
NM_001369.3(DNAH5):c.6049C>T (p.Arg2017Trp)
|
rs143679999
|
|
NM_001369.3(DNAH5):c.6070C>A (p.Gln2024Lys)
|
rs989184330
|
|
NM_001369.3(DNAH5):c.6086G>T (p.Gly2029Val)
|
rs1763454468
|
|
NM_001369.3(DNAH5):c.6107G>T (p.Arg2036Leu)
|
rs760502991
|
|
NM_001369.3(DNAH5):c.6157C>G (p.Leu2053Val)
|
|
|
NM_001369.3(DNAH5):c.6170A>G (p.Lys2057Arg)
|
|
|
NM_001369.3(DNAH5):c.6173A>G (p.Glu2058Gly)
|
|
|
NM_001369.3(DNAH5):c.6185C>A (p.Ser2062Tyr)
|
|
|
NM_001369.3(DNAH5):c.6203G>T (p.Gly2068Val)
|
|
|
NM_001369.3(DNAH5):c.6206A>T (p.Asp2069Val)
|
|
|
NM_001369.3(DNAH5):c.6247A>C (p.Met2083Leu)
|
|
|
NM_001369.3(DNAH5):c.6249+4A>T
|
rs1554067648
|
|
NM_001369.3(DNAH5):c.624C>G (p.Asn208Lys)
|
rs139640247
|
|
NM_001369.3(DNAH5):c.6250-3del
|
rs2151835529
|
|
NM_001369.3(DNAH5):c.6265G>A (p.Gly2089Arg)
|
|
|
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.6349G>T (p.Val2117Leu)
|
rs1763365674
|
|
NM_001369.3(DNAH5):c.6454G>A (p.Asp2152Asn)
|
rs886059975
|
|
NM_001369.3(DNAH5):c.6455A>T (p.Asp2152Val)
|
|
|
NM_001369.3(DNAH5):c.6466C>T (p.Arg2156Cys)
|
|
|
NM_001369.3(DNAH5):c.6473T>G (p.Ile2158Ser)
|
|
|
NM_001369.3(DNAH5):c.6580A>G (p.Ile2194Val)
|
|
|
NM_001369.3(DNAH5):c.6581T>C (p.Ile2194Thr)
|
rs755113058
|
|
NM_001369.3(DNAH5):c.6595C>A (p.Pro2199Thr)
|
|
|
NM_001369.3(DNAH5):c.661-8C>T
|
rs1227311322
|
|
NM_001369.3(DNAH5):c.6650C>A (p.Ala2217Glu)
|
rs748338986
|
|
NM_001369.3(DNAH5):c.6658C>A (p.Pro2220Thr)
|
rs2151821296
|
|
NM_001369.3(DNAH5):c.6661G>A (p.Glu2221Lys)
|
|
|
NM_001369.3(DNAH5):c.6676A>G (p.Ile2226Val)
|
rs750936569
|
|
NM_001369.3(DNAH5):c.6681T>A (p.Ser2227Arg)
|
|
|
NM_001369.3(DNAH5):c.6705A>T (p.Leu2235Phe)
|
rs765945557
|
|
NM_001369.3(DNAH5):c.676T>C (p.Cys226Arg)
|
|
|
NM_001369.3(DNAH5):c.6794G>C (p.Gly2265Ala)
|
|
|
NM_001369.3(DNAH5):c.6796G>A (p.Ala2266Thr)
|
rs1023849945
|
|
NM_001369.3(DNAH5):c.6796G>T (p.Ala2266Ser)
|
|
|
NM_001369.3(DNAH5):c.6812G>A (p.Cys2271Tyr)
|
|
|
NM_001369.3(DNAH5):c.6839C>T (p.Thr2280Ile)
|
|
|
NM_001369.3(DNAH5):c.6847G>A (p.Gly2283Arg)
|
|
|
NM_001369.3(DNAH5):c.6869G>C (p.Arg2290Thr)
|
|
|
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.6905T>G (p.Phe2302Cys)
|
|
|
NM_001369.3(DNAH5):c.6908G>T (p.Gly2303Val)
|
rs1580399696
|
|
NM_001369.3(DNAH5):c.6925A>C (p.Thr2309Pro)
|
rs1761613337
|
|
NM_001369.3(DNAH5):c.6989-7_6989-5dup
|
rs1460888052
|
|
NM_001369.3(DNAH5):c.698C>G (p.Thr233Ser)
|
|
|
NM_001369.3(DNAH5):c.7000T>C (p.Trp2334Arg)
|
|
|
NM_001369.3(DNAH5):c.700C>A (p.Leu234Ile)
|
|
|
NM_001369.3(DNAH5):c.7012G>C (p.Asp2338His)
|
rs2151800746
|
|
NM_001369.3(DNAH5):c.7027G>T (p.Ala2343Ser)
|
|
|
NM_001369.3(DNAH5):c.7062T>G (p.Asp2354Glu)
|
rs2151800621
|
|
NM_001369.3(DNAH5):c.7168G>A (p.Val2390Ile)
|
|
|
NM_001369.3(DNAH5):c.7202C>T (p.Ser2401Phe)
|
|
|
NM_001369.3(DNAH5):c.7204A>C (p.Ile2402Leu)
|
rs1368779884
|
|
NM_001369.3(DNAH5):c.7205T>C (p.Ile2402Thr)
|
|
|
NM_001369.3(DNAH5):c.7206C>A (p.Ile2402=)
|
rs747529694
|
|
NM_001369.3(DNAH5):c.7207C>A (p.Leu2403Ile)
|
|
|
NM_001369.3(DNAH5):c.7212T>C (p.Asp2404=)
|
rs876657454
|
|
NM_001369.3(DNAH5):c.7219C>T (p.Pro2407Ser)
|
|
|
NM_001369.3(DNAH5):c.7230G>C (p.Glu2410Asp)
|
|
|
NM_001369.3(DNAH5):c.7231-6del
|
|
|
NM_001369.3(DNAH5):c.7273C>T (p.Arg2425Cys)
|
|
|
NM_001369.3(DNAH5):c.7289A>T (p.Glu2430Val)
|
|
|
NM_001369.3(DNAH5):c.7309C>G (p.Arg2437Gly)
|
rs201469471
|
|
NM_001369.3(DNAH5):c.7309C>T (p.Arg2437Cys)
|
|
|
NM_001369.3(DNAH5):c.7332A>C (p.Glu2444Asp)
|
|
|
NM_001369.3(DNAH5):c.734A>G (p.Asn245Ser)
|
rs2151992686
|
|
NM_001369.3(DNAH5):c.7381A>G (p.Met2461Val)
|
|
|
NM_001369.3(DNAH5):c.7385T>A (p.Leu2462His)
|
rs1554059594
|
|
NM_001369.3(DNAH5):c.7388A>C (p.Gln2463Pro)
|
|
|
NM_001369.3(DNAH5):c.7390G>A (p.Gly2464Ser)
|
rs112103817
|
|
NM_001369.3(DNAH5):c.7391G>C (p.Gly2464Ala)
|
|
|
NM_001369.3(DNAH5):c.7406A>C (p.Lys2469Thr)
|
|
|
NM_001369.3(DNAH5):c.7407+4A>C
|
|
|
NM_001369.3(DNAH5):c.7430A>G (p.Gln2477Arg)
|
|
|
NM_001369.3(DNAH5):c.7444C>T (p.Arg2482Trp)
|
rs1355327016
|
|
NM_001369.3(DNAH5):c.7449G>A (p.Leu2483=)
|
rs886059974
|
|
NM_001369.3(DNAH5):c.7452C>G (p.Phe2484Leu)
|
rs561666802
|
|
NM_001369.3(DNAH5):c.7459G>A (p.Ala2487Thr)
|
|
|
NM_001369.3(DNAH5):c.7481C>A (p.Ala2494Glu)
|
rs1428862297
|
|
NM_001369.3(DNAH5):c.7511T>G (p.Leu2504Arg)
|
rs1344694038
|
|
NM_001369.3(DNAH5):c.7514A>T (p.Glu2505Val)
|
|
|
NM_001369.3(DNAH5):c.7515G>C (p.Glu2505Asp)
|
|
|
NM_001369.3(DNAH5):c.7525C>T (p.Arg2509Cys)
|
rs531393117
|
|
NM_001369.3(DNAH5):c.7531C>G (p.Arg2511Gly)
|
rs564040169
|
|
NM_001369.3(DNAH5):c.7534C>G (p.Pro2512Ala)
|
rs1760398139
|
|
NM_001369.3(DNAH5):c.7540_7543dup (p.Thr2515fs)
|
rs1196559591
|
|
NM_001369.3(DNAH5):c.7552C>G (p.Leu2518Val)
|
|
|
NM_001369.3(DNAH5):c.7571C>T (p.Pro2524Leu)
|
|
|
NM_001369.3(DNAH5):c.7579_7590del (p.Thr2527_Asp2530del)
|
rs1554058577
|
|
NM_001369.3(DNAH5):c.759A>G (p.Ile253Met)
|
|
|
NM_001369.3(DNAH5):c.7612A>G (p.Thr2538Ala)
|
rs1340645369
|
|
NM_001369.3(DNAH5):c.7631C>T (p.Thr2544Met)
|
|
|
NM_001369.3(DNAH5):c.7634G>A (p.Arg2545His)
|
|
|
NM_001369.3(DNAH5):c.765T>C (p.Asp255=)
|
rs767772613
|
|
NM_001369.3(DNAH5):c.7679G>A (p.Gly2560Asp)
|
rs1554058022
|
|
NM_001369.3(DNAH5):c.7684A>G (p.Ile2562Val)
|
|
|
NM_001369.3(DNAH5):c.769A>G (p.Met257Val)
|
|
|
NM_001369.3(DNAH5):c.770T>C (p.Met257Thr)
|
rs771377608
|
|
NM_001369.3(DNAH5):c.7733C>A (p.Thr2578Asn)
|
|
|
NM_001369.3(DNAH5):c.7742A>G (p.Lys2581Arg)
|
rs1279883936
|
|
NM_001369.3(DNAH5):c.7748G>T (p.Gly2583Val)
|
rs2127006063
|
|
NM_001369.3(DNAH5):c.774A>G (p.Lys258=)
|
rs1580893288
|
|
NM_001369.3(DNAH5):c.7752G>A (p.Lys2584=)
|
|
|
NM_001369.3(DNAH5):c.777A>G (p.Val259=)
|
rs1580893242
|
|
NM_001369.3(DNAH5):c.7786A>C (p.Lys2596Gln)
|
rs1759848562
|
|
NM_001369.3(DNAH5):c.7796T>C (p.Ile2599Thr)
|
|
|
NM_001369.3(DNAH5):c.7805G>A (p.Gly2602Glu)
|
|
|
NM_001369.3(DNAH5):c.7810A>T (p.Met2604Leu)
|
|
|
NM_001369.3(DNAH5):c.7825C>A (p.Pro2609Thr)
|
rs886059973
|
|
NM_001369.3(DNAH5):c.7834C>T (p.His2612Tyr)
|
|
|
NM_001369.3(DNAH5):c.7923T>G (p.Gly2641=)
|
rs748304927
|
|
NM_001369.3(DNAH5):c.7934G>A (p.Gly2645Asp)
|
|
|
NM_001369.3(DNAH5):c.793G>A (p.Glu265Lys)
|
|
|
NM_001369.3(DNAH5):c.7940C>T (p.Pro2647Leu)
|
|
|
NM_001369.3(DNAH5):c.796C>T (p.Gln266Ter)
|
rs748605406
|
|
NM_001369.3(DNAH5):c.798+2dup
|
rs1777130854
|
|
NM_001369.3(DNAH5):c.7994A>G (p.Asn2665Ser)
|
rs774224537
|
|
NM_001369.3(DNAH5):c.8015C>T (p.Thr2672Met)
|
rs1358728493
|
|
NM_001369.3(DNAH5):c.8022G>C (p.Glu2674Asp)
|
|
|
NM_001369.3(DNAH5):c.8036T>A (p.Leu2679Gln)
|
rs1424415934
|
|
NM_001369.3(DNAH5):c.8039T>A (p.Met2680Lys)
|
|
|
NM_001369.3(DNAH5):c.8043A>C (p.Glu2681Asp)
|
|
|
NM_001369.3(DNAH5):c.8059A>G (p.Asn2687Asp)
|
|
|
NM_001369.3(DNAH5):c.8072C>T (p.Pro2691Leu)
|
|
|
NM_001369.3(DNAH5):c.8077G>A (p.Glu2693Lys)
|
rs1757368494
|
|
NM_001369.3(DNAH5):c.8080T>G (p.Phe2694Val)
|
|
|
NM_001369.3(DNAH5):c.8122C>T (p.His2708Tyr)
|
|
|
NM_001369.3(DNAH5):c.8126C>T (p.Pro2709Leu)
|
|
|
NM_001369.3(DNAH5):c.8128G>A (p.Gly2710Ser)
|
rs1219540537
|
|
NM_001369.3(DNAH5):c.8141A>G (p.Asn2714Ser)
|
|
|
NM_001369.3(DNAH5):c.8153A>G (p.Gln2718Arg)
|
|
|
NM_001369.3(DNAH5):c.8168A>G (p.Gln2723Arg)
|
|
|
NM_001369.3(DNAH5):c.8168A>T (p.Gln2723Leu)
|
rs201935354
|
|
NM_001369.3(DNAH5):c.8170T>A (p.Phe2724Ile)
|
rs753702337
|
|
NM_001369.3(DNAH5):c.8174C>G (p.Ser2725Cys)
|
|
|
NM_001369.3(DNAH5):c.8176A>T (p.Ile2726Leu)
|
|
|
NM_001369.3(DNAH5):c.8189C>T (p.Thr2730Met)
|
|
|
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.8224+5A>G
|
|
|
NM_001369.3(DNAH5):c.8246A>G (p.Tyr2749Cys)
|
rs1757110482
|
|
NM_001369.3(DNAH5):c.8261G>A (p.Gly2754Asp)
|
|
|
NM_001369.3(DNAH5):c.8261G>T (p.Gly2754Val)
|
|
|
NM_001369.3(DNAH5):c.8302C>A (p.Pro2768Thr)
|
|
|
NM_001369.3(DNAH5):c.8311C>T (p.Arg2771Cys)
|
|
|
NM_001369.3(DNAH5):c.8312G>A (p.Arg2771His)
|
rs199643592
|
|
NM_001369.3(DNAH5):c.8324A>G (p.Gln2775Arg)
|
rs2126900531
|
|
NM_001369.3(DNAH5):c.8328G>A (p.Met2776Ile)
|
|
|
NM_001369.3(DNAH5):c.8369A>T (p.Tyr2790Phe)
|
|
|
NM_001369.3(DNAH5):c.8395C>T (p.Arg2799Trp)
|
|
|
NM_001369.3(DNAH5):c.8410A>G (p.Met2804Val)
|
rs199629940
|
|
NM_001369.3(DNAH5):c.8504C>T (p.Thr2835Ile)
|
|
|
NM_001369.3(DNAH5):c.8516A>G (p.Asp2839Gly)
|
|
|
NM_001369.3(DNAH5):c.8530G>A (p.Asp2844Asn)
|
rs2126882668
|
|
NM_001369.3(DNAH5):c.8537C>T (p.Ala2846Val)
|
|
|
NM_001369.3(DNAH5):c.854C>G (p.Ala285Gly)
|
|
|
NM_001369.3(DNAH5):c.8552T>C (p.Val2851Ala)
|
rs1756491046
|
|
NM_001369.3(DNAH5):c.8596G>A (p.Gly2866Arg)
|
|
|
NM_001369.3(DNAH5):c.8618A>G (p.Asp2873Gly)
|
rs1347729037
|
|
NM_001369.3(DNAH5):c.8631T>A (p.Asp2877Glu)
|
|
|
NM_001369.3(DNAH5):c.8633C>T (p.Ala2878Val)
|
rs1756476635
|
|
NM_001369.3(DNAH5):c.8647+3A>G
|
rs1580248475
|
|
NM_001369.3(DNAH5):c.8668G>C (p.Asp2890His)
|
rs1756005971
|
|
NM_001369.3(DNAH5):c.8686A>G (p.Ile2896Val)
|
|
|
NM_001369.3(DNAH5):c.8690A>G (p.Tyr2897Cys)
|
|
|
NM_001369.3(DNAH5):c.8726G>T (p.Arg2909Leu)
|
rs756069405
|
|
NM_001369.3(DNAH5):c.8750A>C (p.Tyr2917Ser)
|
|
|
NM_001369.3(DNAH5):c.8750A>T (p.Tyr2917Phe)
|
|
|
NM_001369.3(DNAH5):c.8752A>G (p.Asn2918Asp)
|
rs1755979769
|
|
NM_001369.3(DNAH5):c.8780A>G (p.Asp2927Gly)
|
|
|
NM_001369.3(DNAH5):c.8782A>G (p.Met2928Val)
|
|
|
NM_001369.3(DNAH5):c.8803A>G (p.Met2935Val)
|
|
|
NM_001369.3(DNAH5):c.8805G>A (p.Met2935Ile)
|
|
|
NM_001369.3(DNAH5):c.8818A>C (p.Lys2940Gln)
|
|
|
NM_001369.3(DNAH5):c.8820+6G>A
|
rs201287534
|
|
NM_001369.3(DNAH5):c.8821-14G>A
|
rs769508388
|
|
NM_001369.3(DNAH5):c.8821-38T>A
|
|
|
NM_001369.3(DNAH5):c.882C>T (p.Leu294=)
|
rs754754549
|
|
NM_001369.3(DNAH5):c.8875G>A (p.Gly2959Arg)
|
|
|
NM_001369.3(DNAH5):c.8905G>T (p.Ala2969Ser)
|
|
|
NM_001369.3(DNAH5):c.8906C>G (p.Ala2969Gly)
|
|
|
NM_001369.3(DNAH5):c.8962A>G (p.Thr2988Ala)
|
rs1754251806
|
|
NM_001369.3(DNAH5):c.896A>G (p.Tyr299Cys)
|
|
|
NM_001369.3(DNAH5):c.8982T>G (p.Asp2994Glu)
|
rs773014523
|
|
NM_001369.3(DNAH5):c.9002C>T (p.Thr3001Ile)
|
|
|
NM_001369.3(DNAH5):c.9010C>A (p.Gln3004Lys)
|
rs1754241068
|
|
NM_001369.3(DNAH5):c.9056A>G (p.Lys3019Arg)
|
|
|
NM_001369.3(DNAH5):c.9071T>G (p.Leu3024Trp)
|
|
|
NM_001369.3(DNAH5):c.909A>C (p.Gln303His)
|
|
|
NM_001369.3(DNAH5):c.9125G>A (p.Arg3042Gln)
|
rs200839716
|
|
NM_001369.3(DNAH5):c.9125G>T (p.Arg3042Leu)
|
|
|
NM_001369.3(DNAH5):c.912G>A (p.Leu304=)
|
rs1776989378
|
|
NM_001369.3(DNAH5):c.9151G>A (p.Asp3051Asn)
|
|
|
NM_001369.3(DNAH5):c.9166A>G (p.Met3056Val)
|
|
|
NM_001369.3(DNAH5):c.919C>T (p.Pro307Ser)
|
|
|
NM_001369.3(DNAH5):c.9214G>A (p.Asp3072Asn)
|
|
|
NM_001369.3(DNAH5):c.9220T>A (p.Phe3074Ile)
|
|
|
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.9250A>G (p.Ile3084Val)
|
|
|
NM_001369.3(DNAH5):c.925G>A (p.Val309Met)
|
|
|
NM_001369.3(DNAH5):c.9260G>A (p.Cys3087Tyr)
|
|
|
NM_001369.3(DNAH5):c.928A>C (p.Lys310Gln)
|
|
|
NM_001369.3(DNAH5):c.935T>G (p.Val312Gly)
|
rs762677340
|
|
NM_001369.3(DNAH5):c.9452C>G (p.Ser3151Cys)
|
rs1243099431
|
|
NM_001369.3(DNAH5):c.9478T>C (p.Cys3160Arg)
|
|
|
NM_001369.3(DNAH5):c.9481G>T (p.Val3161Phe)
|
|
|
NM_001369.3(DNAH5):c.9511A>C (p.Thr3171Pro)
|
|
|
NM_001369.3(DNAH5):c.9511A>G (p.Thr3171Ala)
|
rs149681419
|
|
NM_001369.3(DNAH5):c.9517G>A (p.Val3173Met)
|
|
|
NM_001369.3(DNAH5):c.9531A>G (p.Ser3177=)
|
rs764594038
|
|
NM_001369.3(DNAH5):c.9538_9539delinsCT (p.Ser3180Leu)
|
|
|
NM_001369.3(DNAH5):c.9552C>A (p.Gly3184=)
|
rs149749266
|
|
NM_001369.3(DNAH5):c.9554A>G (p.Tyr3185Cys)
|
|
|
NM_001369.3(DNAH5):c.9573A>G (p.Glu3191=)
|
rs373510512
|
|
NM_001369.3(DNAH5):c.9580G>T (p.Val3194Leu)
|
rs2126785528
|
|
NM_001369.3(DNAH5):c.9606-7A>G
|
rs1753043312
|
|
NM_001369.3(DNAH5):c.9611A>C (p.Asn3204Thr)
|
|
|
NM_001369.3(DNAH5):c.9655G>A (p.Ala3219Thr)
|
rs1554040804
|
|
NM_001369.3(DNAH5):c.9677C>T (p.Ala3226Val)
|
rs192262838
|
|
NM_001369.3(DNAH5):c.9685A>G (p.Lys3229Glu)
|
|
|
NM_001369.3(DNAH5):c.9706G>A (p.Asp3236Asn)
|
|
|
NM_001369.3(DNAH5):c.9718A>G (p.Met3240Val)
|
|
|
NM_001369.3(DNAH5):c.9720+4G>A
|
|
|
NM_001369.3(DNAH5):c.9720G>T (p.Met3240Ile)
|
|
|
NM_001369.3(DNAH5):c.972G>A (p.Leu324=)
|
rs757404057
|
|
NM_001369.3(DNAH5):c.9739A>G (p.Met3247Val)
|
rs780887847
|
|
NM_001369.3(DNAH5):c.975+3C>A
|
|
|
NM_001369.3(DNAH5):c.9751G>C (p.Ala3251Pro)
|
|
|
NM_001369.3(DNAH5):c.9751G>T (p.Ala3251Ser)
|
rs139293893
|
|
NM_001369.3(DNAH5):c.9764T>G (p.Val3255Gly)
|
rs2126776737
|
|
NM_001369.3(DNAH5):c.9772G>C (p.Glu3258Gln)
|
|
|
NM_001369.3(DNAH5):c.9788A>G (p.Lys3263Arg)
|
|
|
NM_001369.3(DNAH5):c.9802G>A (p.Ala3268Thr)
|
|
|
NM_001369.3(DNAH5):c.9815G>A (p.Ser3272Asn)
|
|
|
NM_001369.3(DNAH5):c.9842A>G (p.Glu3281Gly)
|
|
|
NM_001369.3(DNAH5):c.9845A>G (p.Glu3282Gly)
|
|
|
NM_001369.3(DNAH5):c.9850C>A (p.Leu3284Met)
|
rs1752912351
|
|
NM_001369.3(DNAH5):c.9857C>T (p.Ala3286Val)
|
|
|
NM_001369.3(DNAH5):c.986A>G (p.Glu329Gly)
|
|
|
NM_001369.3(DNAH5):c.9871T>C (p.Leu3291=)
|
rs1379421295
|
|
NM_001369.3(DNAH5):c.9878A>C (p.Glu3293Ala)
|
|
|
NM_001369.3(DNAH5):c.9890C>T (p.Ala3297Val)
|
|
|
NM_001369.3(DNAH5):c.9896A>G (p.Gln3299Arg)
|
rs727503902
|
|
NM_001369.3(DNAH5):c.9898-6C>T
|
rs1554039568
|
|
NM_001369.3(DNAH5):c.9907C>A (p.Pro3303Thr)
|
rs770166503
|
|
NM_001369.3(DNAH5):c.9912G>A (p.Ser3304=)
|
rs188218914
|
|
NM_001369.3(DNAH5):c.991G>T (p.Asp331Tyr)
|
|
|
NM_001369.3(DNAH5):c.9928C>G (p.Arg3310Gly)
|
|
|
NM_001369.3(DNAH5):c.9932C>T (p.Thr3311Met)
|
|
|
NM_001369.3(DNAH5):c.9940C>T (p.Arg3314Cys)
|
rs755923477
|
|
NM_001369.3(DNAH5):c.9950A>G (p.His3317Arg)
|
|
|
NM_001369.3(DNAH5):c.9955A>G (p.Ile3319Val)
|
rs1752483044
|
|
NM_001369.3(DNAH5):c.9956T>G (p.Ile3319Ser)
|
rs2126762596
|
|
NM_001369.3(DNAH5):c.9967A>G (p.Met3323Val)
|
rs1554039465
|
|
NM_001369.3(DNAH5):c.9976G>A (p.Val3326Ile)
|
rs149452082
|
|
NM_001369.3(DNAH5):c.9976G>T (p.Val3326Leu)
|
|
|
NM_001369.3(DNAH5):c.[2577+5T>G;5413C>T]
|
|
|