ClinVar Miner

List of variants in gene DNAH5 reported as uncertain significance for Primary ciliary dyskinesia

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Total variants: 992
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HGVS dbSNP gnomAD frequency
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.9244C>A (p.Leu3082Ile) rs147372600 0.00180
NM_001369.3(DNAH5):c.9941G>A (p.Arg3314His) rs143858741 0.00180
NM_001369.3(DNAH5):c.3734G>A (p.Arg1245His) rs77939839 0.00172
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.3775G>A (p.Ala1259Thr) rs112217391 0.00120
NM_001369.3(DNAH5):c.8002G>A (p.Gly2668Arg) rs147236883 0.00115
NM_001369.3(DNAH5):c.11437C>T (p.Arg3813Trp) rs140948493 0.00107
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.11140A>G (p.Ile3714Val) rs143185806 0.00077
NM_001369.3(DNAH5):c.9203A>G (p.Glu3068Gly) rs141571121 0.00077
NM_001369.3(DNAH5):c.10367C>T (p.Ala3456Val) rs149956015 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.3777G>A (p.Ala1259=) rs144893234 0.00052
NM_001369.3(DNAH5):c.6956C>T (p.Thr2319Met) rs144983881 0.00052
NM_001369.3(DNAH5):c.1250C>G (p.Thr417Ser) rs149202369 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.3179A>T (p.Lys1060Met) rs145672251 0.00037
NM_001369.3(DNAH5):c.7531C>T (p.Arg2511Trp) rs564040169 0.00035
NM_001369.3(DNAH5):c.7892C>T (p.Thr2631Met) rs375200875 0.00032
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.5413C>T (p.Arg1805Cys) rs142155986 0.00029
NM_001369.3(DNAH5):c.9461A>C (p.Asp3154Ala) rs149187750 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.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.3760C>T (p.Arg1254Trp) rs749162833 0.00021
NM_001369.3(DNAH5):c.39C>T (p.Ser13=) rs370788337 0.00021
NM_001369.3(DNAH5):c.330A>T (p.Lys110Asn) rs138832246 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.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.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.4596+5A>C rs182677317 0.00014
NM_001369.3(DNAH5):c.6748G>A (p.Glu2250Lys) rs201285946 0.00014
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.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.1955G>A (p.Ser652Asn) rs749126116 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.10036A>G (p.Thr3346Ala) rs141971313 0.00010
NM_001369.3(DNAH5):c.12272T>C (p.Met4091Thr) rs142570731 0.00010
NM_001369.3(DNAH5):c.20G>A (p.Arg7Lys) rs139728564 0.00010
NM_001369.3(DNAH5):c.4689C>T (p.Gly1563=) rs375658702 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.10658G>A (p.Arg3553Gln) rs144393366 0.00009
NM_001369.3(DNAH5):c.11512G>A (p.Glu3838Lys) rs190450522 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.13591G>A (p.Glu4531Lys) rs201242847 0.00009
NM_001369.3(DNAH5):c.1362A>G (p.Lys454=) rs371157628 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.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.7888-4A>G rs775268409 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.10646A>G (p.Glu3549Gly) rs758546967 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.1290A>G (p.Glu430=) rs990691780 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.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.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.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.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.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.8018A>G (p.Asn2673Ser) rs200591493 0.00005
NM_001369.3(DNAH5):c.9538T>G (p.Ser3180Ala) rs375817990 0.00005
NM_001369.3(DNAH5):c.10378G>A (p.Val3460Met) rs200012281 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.13502G>A (p.Arg4501Gln) rs781267941 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.2944C>T (p.Arg982Cys) rs143673459 0.00004
NM_001369.3(DNAH5):c.2984A>G (p.Asp995Gly) rs749983185 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.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.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.9714C>T (p.Ala3238=) rs375561333 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.11533C>T (p.Arg3845Cys) rs565819640 0.00003
NM_001369.3(DNAH5):c.11583C>A (p.Ser3861Arg) rs576096758 0.00003
NM_001369.3(DNAH5):c.12104C>T (p.Thr4035Met) rs200894344 0.00003
NM_001369.3(DNAH5):c.12374C>T (p.Ala4125Val) rs370757783 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.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.3064G>A (p.Val1022Ile) rs375218798 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.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.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.9128A>T (p.Asp3043Val) rs759475605 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.10312C>T (p.Leu3438Phe) rs1165709485 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.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.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.1658A>G (p.Lys553Arg) rs767525835 0.00002
NM_001369.3(DNAH5):c.1823C>G (p.Thr608Arg) rs781059966 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.378A>G (p.Val126=) rs377275027 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.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.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.6911G>A (p.Arg2304Gln) rs558294959 0.00002
NM_001369.3(DNAH5):c.698C>T (p.Thr233Ile) rs1416012949 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.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.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.10784C>T (p.Thr3595Met) rs886043929 0.00001
NM_001369.3(DNAH5):c.10877C>T (p.Thr3626Met) rs376067762 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.11506G>T (p.Val3836Phe) rs201068342 0.00001
NM_001369.3(DNAH5):c.11519A>G (p.Tyr3840Cys) rs761555252 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.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.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.12631G>A (p.Glu4211Lys) rs762673561 0.00001
NM_001369.3(DNAH5):c.12772G>A (p.Asp4258Asn) rs1354484933 0.00001
NM_001369.3(DNAH5):c.12880A>G (p.Thr4294Ala) rs765649176 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.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.13774C>T (p.Arg4592Ter) rs758112779 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.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.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.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.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.3642G>A (p.Met1214Ile) rs1364628669 0.00001
NM_001369.3(DNAH5):c.3736C>T (p.Pro1246Ser) rs1769992971 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.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.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.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.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.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.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.7151A>G (p.Asn2384Ser) rs777962194 0.00001
NM_001369.3(DNAH5):c.7196G>A (p.Ser2399Asn) rs550329660 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.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.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.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.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.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
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.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.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.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.10436C>A (p.Ala3479Glu)
NM_001369.3(DNAH5):c.104C>T (p.Ala35Val)
NM_001369.3(DNAH5):c.10552G>C (p.Val3518Leu)
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.10784C>A (p.Thr3595Lys)
NM_001369.3(DNAH5):c.10789G>C (p.Ala3597Pro) rs368959723
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.10937C>A (p.Pro3646His)
NM_001369.3(DNAH5):c.10973C>T (p.Pro3658Leu)
NM_001369.3(DNAH5):c.11015G>A (p.Gly3672Glu)
NM_001369.3(DNAH5):c.11028+5G>A rs1419129615
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.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.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.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.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.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.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.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.12241G>A (p.Val4081Ile)
NM_001369.3(DNAH5):c.12248C>A (p.Ala4083Asp) rs1201132518
NM_001369.3(DNAH5):c.12279+6G>C rs762179184
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.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.1246G>A (p.Gly416Arg)
NM_001369.3(DNAH5):c.12500-14A>G rs2126510171
NM_001369.3(DNAH5):c.12513C>A (p.Asp4171Glu) rs547445590
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.12587A>G (p.Gln4196Arg)
NM_001369.3(DNAH5):c.12601T>C (p.Phe4201Leu)
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.13013G>C (p.Gly4338Ala) rs1744030966
NM_001369.3(DNAH5):c.13015A>C (p.Ile4339Leu)
NM_001369.3(DNAH5):c.13037G>T (p.Gly4346Val) rs371027404
NM_001369.3(DNAH5):c.1304C>T (p.Ala435Val)
NM_001369.3(DNAH5):c.13112A>G (p.Tyr4371Cys)
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.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.1331T>C (p.Leu444Pro)
NM_001369.3(DNAH5):c.13331G>T (p.Trp4444Leu) rs1060501467
NM_001369.3(DNAH5):c.13364G>A (p.Gly4455Asp) rs370684795
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.13481C>A (p.Ala4494Glu)
NM_001369.3(DNAH5):c.13485G>A (p.Met4495Ile)
NM_001369.3(DNAH5):c.13513G>T (p.Gly4505Cys) rs1742005673
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.13628C>T (p.Ala4543Val) rs2126404399
NM_001369.3(DNAH5):c.13643G>A (p.Arg4548Lys)
NM_001369.3(DNAH5):c.13714G>A (p.Glu4572Lys) rs768846678
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.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.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.1501_1503delinsGTC (p.Ile501Val) rs1554101056
NM_001369.3(DNAH5):c.1522G>A (p.Ala508Thr)
NM_001369.3(DNAH5):c.1528A>G (p.Lys510Glu)
NM_001369.3(DNAH5):c.1536G>A (p.Gln512=) rs541266118
NM_001369.3(DNAH5):c.1585C>T (p.Arg529Trp) rs200452908
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.1643A>C (p.His548Pro)
NM_001369.3(DNAH5):c.1645-8T>G rs2151964175
NM_001369.3(DNAH5):c.1683G>C (p.Lys561Asn)
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.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.2004G>C (p.Lys668Asn) rs1226480889
NM_001369.3(DNAH5):c.2052+3G>C
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.2193C>T (p.Val731=) rs766072810
NM_001369.3(DNAH5):c.220G>A (p.Val74Ile)
NM_001369.3(DNAH5):c.2254A>G (p.Met752Val)
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.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.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.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.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.2804C>T (p.Ala935Val) rs1457781570
NM_001369.3(DNAH5):c.283C>T (p.Leu95Phe)
NM_001369.3(DNAH5):c.2847G>C (p.Glu949Asp)
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.2953A>G (p.Ile985Val) rs377668816
NM_001369.3(DNAH5):c.2963C>T (p.Ser988Phe)
NM_001369.3(DNAH5):c.2988T>G (p.Ser996Arg)
NM_001369.3(DNAH5):c.2995G>T (p.Ala999Ser)
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.3050C>T (p.Ala1017Val) rs2151938659
NM_001369.3(DNAH5):c.3127A>G (p.Ser1043Gly) rs1771881510
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.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.329A>C (p.Lys110Thr)
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.3415G>C (p.Asp1139His) rs1554085372
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.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.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.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.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.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.4469C>T (p.Ala1490Val) rs1768942005
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.4574T>G (p.Leu1525Arg)
NM_001369.3(DNAH5):c.4589A>G (p.Glu1530Gly)
NM_001369.3(DNAH5):c.4669A>G (p.Asn1557Asp) rs767321919
NM_001369.3(DNAH5):c.4748C>A (p.Ala1583Asp)
NM_001369.3(DNAH5):c.4753A>G (p.Met1585Val) rs1580641242
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.5021G>T (p.Ser1674Ile) rs1024785789
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.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.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>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.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.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.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.561G>C (p.Glu187Asp)
NM_001369.3(DNAH5):c.5660A>G (p.Glu1887Gly)
NM_001369.3(DNAH5):c.566T>C (p.Leu189Pro) rs1777384254
NM_001369.3(DNAH5):c.5710T>C (p.Cys1904Arg)
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.5816C>T (p.Ala1939Val)
NM_001369.3(DNAH5):c.5821A>G (p.Ile1941Val) rs754033261
NM_001369.3(DNAH5):c.5846G>A (p.Cys1949Tyr)
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.594G>C (p.Glu198Asp)
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>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.6206A>T (p.Asp2069Val)
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.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.676T>C (p.Cys226Arg)
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.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.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.7230G>C (p.Glu2410Asp)
NM_001369.3(DNAH5):c.7231-6del
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.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.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.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.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.7679G>A (p.Gly2560Asp) rs1554058022
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.774A>G (p.Lys258=) rs1580893288
NM_001369.3(DNAH5):c.7752G>A (p.Lys2584=)
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.7834C>T (p.His2612Tyr)
NM_001369.3(DNAH5):c.7934G>A (p.Gly2645Asp)
NM_001369.3(DNAH5):c.793G>A (p.Glu265Lys)
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.8039T>A (p.Met2680Lys)
NM_001369.3(DNAH5):c.8043A>C (p.Glu2681Asp)
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.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>T (p.Gly2754Val)
NM_001369.3(DNAH5):c.8311C>T (p.Arg2771Cys)
NM_001369.3(DNAH5):c.8312G>A (p.Arg2771His) rs199643592
NM_001369.3(DNAH5):c.8328G>A (p.Met2776Ile)
NM_001369.3(DNAH5):c.8410A>G (p.Met2804Val) rs199629940
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.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.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>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.8820+6G>A rs201287534
NM_001369.3(DNAH5):c.882C>T (p.Leu294=) rs754754549
NM_001369.3(DNAH5):c.8962A>G (p.Thr2988Ala) rs1754251806
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.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.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.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.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.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.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.9890C>T (p.Ala3297Val)
NM_001369.3(DNAH5):c.9896A>G (p.Gln3299Arg) rs727503902
NM_001369.3(DNAH5):c.9907C>A (p.Pro3303Thr) rs770166503
NM_001369.3(DNAH5):c.991G>T (p.Asp331Tyr)
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.9967A>G (p.Met3323Val) rs1554039465
NM_001369.3(DNAH5):c.9976G>A (p.Val3326Ile) rs149452082
NM_001369.3(DNAH5):c.9976G>T (p.Val3326Leu)

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