ClinVar Miner

List of variants reported as uncertain significance for Primary ciliary dyskinesia by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 542
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.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_023036.6(DNAI2):c.754G>A (p.Val252Met) rs140326154 0.00087
NM_001369.3(DNAH5):c.8731A>G (p.Asn2911Asp) rs142852982 0.00086
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_023036.6(DNAI2):c.1188G>A (p.Arg396=) rs139935771 0.00066
NM_012144.4(DNAI1):c.1173C>G (p.Ile391Met) rs151097256 0.00063
NM_012144.4(DNAI1):c.1878G>A (p.Ala626=) rs146244319 0.00063
NM_001369.3(DNAH5):c.11231C>A (p.Thr3744Asn) rs529225111 0.00061
NM_001369.3(DNAH5):c.1121T>C (p.Ile374Thr) rs147499872 0.00059
NM_012144.4(DNAI1):c.40C>T (p.His14Tyr) rs146501326 0.00059
NM_001369.3(DNAH5):c.12878G>A (p.Ser4293Asn) rs140279971 0.00058
NM_001369.3(DNAH5):c.13175T>G (p.Phe4392Cys) rs145400611 0.00058
NM_012144.4(DNAI1):c.1923C>T (p.His641=) rs145218397 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_023036.6(DNAI2):c.1533G>T (p.Glu511Asp) rs150710001 0.00050
NM_012144.4(DNAI1):c.1145G>A (p.Ser382Asn) rs141690214 0.00048
NM_001369.3(DNAH5):c.1250C>G (p.Thr417Ser) rs149202369 0.00044
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_012144.4(DNAI1):c.1948C>T (p.Arg650Cys) rs140820295 0.00034
NM_001369.3(DNAH5):c.7892C>T (p.Thr2631Met) rs375200875 0.00032
NM_012144.4(DNAI1):c.551A>G (p.Lys184Arg) rs146203427 0.00032
NM_001369.3(DNAH5):c.9549G>A (p.Gln3183=) rs147865593 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_012144.4(DNAI1):c.1104C>T (p.Tyr368=) rs140711767 0.00029
NM_023036.6(DNAI2):c.828G>A (p.Thr276=) rs149918986 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_023036.6(DNAI2):c.1065G>A (p.Lys355=) rs551163932 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_023036.6(DNAI2):c.854C>T (p.Thr285Met) rs141079076 0.00024
NM_001369.3(DNAH5):c.10066T>C (p.Leu3356=) rs138441172 0.00023
NM_001369.3(DNAH5):c.11320T>C (p.Ser3774Pro) rs766646786 0.00022
NM_001369.3(DNAH5):c.11761+5A>G rs780205801 0.00022
NM_001369.3(DNAH5):c.4082C>G (p.Pro1361Arg) rs145533843 0.00022
NM_023036.6(DNAI2):c.1599C>T (p.Thr533=) rs139915367 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_023036.6(DNAI2):c.1723-1G>T rs201909971 0.00021
NM_023036.6(DNAI2):c.571C>T (p.Pro191Ser) rs201457010 0.00021
NM_012144.4(DNAI1):c.1454C>T (p.Thr485Met) rs137935543 0.00020
NM_012144.4(DNAI1):c.180G>A (p.Ala60=) rs201120508 0.00020
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.1967C>T (p.Ala656Val) rs147911274 0.00018
NM_012144.4(DNAI1):c.2045T>C (p.Ile682Thr) rs138460682 0.00017
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_023036.6(DNAI2):c.1146G>A (p.Thr382=) rs142571722 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.4596+5A>C rs182677317 0.00014
NM_001369.3(DNAH5):c.6748G>A (p.Glu2250Lys) rs201285946 0.00014
NM_012144.4(DNAI1):c.356G>A (p.Arg119Gln) rs141704318 0.00014
NM_023036.6(DNAI2):c.1040G>A (p.Arg347His) rs138489039 0.00014
NM_023036.6(DNAI2):c.1202T>C (p.Met401Thr) rs146769635 0.00014
NM_023036.6(DNAI2):c.1615G>A (p.Val539Ile) rs199817659 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_012144.4(DNAI1):c.1195G>A (p.Val399Met) rs150261456 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_012144.4(DNAI1):c.1929C>A (p.Ile643=) rs146434058 0.00012
NM_012144.4(DNAI1):c.48+3A>G rs771238788 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_023036.6(DNAI2):c.319G>A (p.Val107Ile) rs200358267 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_023036.6(DNAI2):c.1318G>C (p.Glu440Gln) rs182986650 0.00010
NM_023036.6(DNAI2):c.196C>T (p.Arg66Trp) rs371226659 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.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_012144.4(DNAI1):c.1019+7A>G rs200720794 0.00009
NM_023036.6(DNAI2):c.1698C>T (p.Asp566=) rs142710343 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_023036.6(DNAI2):c.855G>A (p.Thr285=) rs144909415 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_012144.4(DNAI1):c.1291C>G (p.His431Asp) rs756877115 0.00007
NM_012144.4(DNAI1):c.1822C>A (p.His608Asn) rs148762102 0.00007
NM_012144.4(DNAI1):c.672A>G (p.Thr224=) rs201101182 0.00007
NM_023036.6(DNAI2):c.134A>G (p.Asn45Ser) rs148073122 0.00007
NM_023036.6(DNAI2):c.284G>A (p.Arg95His) rs201521142 0.00007
NM_001369.3(DNAH5):c.10347C>T (p.Ala3449=) rs150773884 0.00006
NM_001369.3(DNAH5):c.11300G>A (p.Arg3767His) rs138838869 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.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.660+9G>A rs762915801 0.00006
NM_001369.3(DNAH5):c.6747C>T (p.Phe2249=) rs568499996 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.8611T>C (p.Phe2871Leu) rs138494768 0.00006
NM_001369.3(DNAH5):c.8956T>C (p.Tyr2986His) rs369931315 0.00006
NM_012144.4(DNAI1):c.1371C>T (p.Asp457=) rs113249236 0.00006
NM_012144.4(DNAI1):c.1407G>T (p.Lys469Asn) rs189377425 0.00006
NM_012144.4(DNAI1):c.1417A>G (p.Ile473Val) rs199774301 0.00006
NM_012144.4(DNAI1):c.341A>G (p.Asp114Gly) rs147909279 0.00006
NM_012144.4(DNAI1):c.358C>T (p.Arg120Trp) rs766328772 0.00006
NM_012144.4(DNAI1):c.566C>T (p.Thr189Ile) rs191840487 0.00006
NM_023036.6(DNAI2):c.1000A>G (p.Met334Val) rs779742315 0.00006
NM_023036.6(DNAI2):c.115G>A (p.Glu39Lys) rs148885547 0.00006
NM_001369.3(DNAH5):c.10472C>T (p.Thr3491Met) rs760010021 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.4867G>A (p.Glu1623Lys) rs147339019 0.00005
NM_001369.3(DNAH5):c.5776G>A (p.Glu1926Lys) rs771222700 0.00005
NM_001369.3(DNAH5):c.8018A>G (p.Asn2673Ser) rs200591493 0.00005
NM_012144.4(DNAI1):c.2064G>A (p.Leu688=) rs750785483 0.00005
NM_012144.4(DNAI1):c.644C>T (p.Pro215Leu) rs755122846 0.00005
NM_023036.6(DNAI2):c.146C>T (p.Thr49Met) rs374715330 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.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.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.5932C>G (p.Pro1978Ala) rs138222058 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.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_012144.4(DNAI1):c.1155C>T (p.Gly385=) rs549401132 0.00004
NM_012144.4(DNAI1):c.1401+3G>A rs759795923 0.00004
NM_012144.4(DNAI1):c.1693G>A (p.Val565Met) rs139953639 0.00004
NM_012144.4(DNAI1):c.1913A>G (p.Asn638Ser) rs201773877 0.00004
NM_012144.4(DNAI1):c.335C>G (p.Pro112Arg) rs201313023 0.00004
NM_012144.4(DNAI1):c.371G>A (p.Arg124His) rs759257177 0.00004
NM_012144.4(DNAI1):c.720G>T (p.Lys240Asn) rs999905460 0.00004
NM_023036.6(DNAI2):c.1142T>C (p.Leu381Pro) rs373836524 0.00004
NM_023036.6(DNAI2):c.1260G>A (p.Pro420=) rs200043910 0.00004
NM_023036.6(DNAI2):c.1327G>A (p.Asp443Asn) rs368225621 0.00004
NM_023036.6(DNAI2):c.663G>A (p.Thr221=) rs368232107 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.12857G>A (p.Gly4286Glu) rs185104576 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.4355+5G>A rs774366812 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.8190G>A (p.Thr2730=) rs752656841 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_012144.4(DNAI1):c.1109T>C (p.Leu370Pro) rs201677978 0.00003
NM_012144.4(DNAI1):c.1156G>A (p.Val386Ile) rs565923150 0.00003
NM_012144.4(DNAI1):c.1599C>T (p.Leu533=) rs150785761 0.00003
NM_012144.4(DNAI1):c.476G>A (p.Ser159Asn) rs149230619 0.00003
NM_012144.4(DNAI1):c.994C>A (p.Arg332Ser) rs182015909 0.00003
NM_023036.6(DNAI2):c.11T>C (p.Val4Ala) rs772185024 0.00003
NM_023036.6(DNAI2):c.289C>T (p.Arg97Trp) rs1162719665 0.00003
NM_023036.6(DNAI2):c.317A>T (p.Tyr106Phe) rs761389658 0.00003
NM_023036.6(DNAI2):c.487A>G (p.Arg163Gly) rs753284790 0.00003
NM_023036.6(DNAI2):c.589G>A (p.Asp197Asn) rs761171314 0.00003
NM_023036.6(DNAI2):c.864+4C>T rs773061334 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.11130T>C (p.Arg3710=) rs765391783 0.00002
NM_001369.3(DNAH5):c.11312C>T (p.Thr3771Ile) rs545183484 0.00002
NM_001369.3(DNAH5):c.11438G>A (p.Arg3813Gln) rs143612682 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.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.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.378A>G (p.Val126=) rs377275027 0.00002
NM_001369.3(DNAH5):c.4319A>C (p.Glu1440Ala) rs147322363 0.00002
NM_001369.3(DNAH5):c.4480C>T (p.Arg1494Trp) rs535366955 0.00002
NM_001369.3(DNAH5):c.4877T>C (p.Met1626Thr) rs753163103 0.00002
NM_001369.3(DNAH5):c.4880C>T (p.Thr1627Met) rs745381842 0.00002
NM_001369.3(DNAH5):c.4936A>C (p.Lys1646Gln) rs775506164 0.00002
NM_001369.3(DNAH5):c.536C>T (p.Thr179Met) rs747116308 0.00002
NM_001369.3(DNAH5):c.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.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_012144.4(DNAI1):c.791G>A (p.Arg264Lys) rs755853256 0.00002
NM_023036.6(DNAI2):c.1105G>A (p.Ala369Thr) rs1263482357 0.00002
NM_023036.6(DNAI2):c.290G>A (p.Arg97Gln) rs775926673 0.00002
NM_023036.6(DNAI2):c.409G>A (p.Glu137Lys) rs112650114 0.00002
NM_023036.6(DNAI2):c.788G>A (p.Arg263Gln) rs768312326 0.00002
NM_001369.3(DNAH5):c.10021C>G (p.Leu3341Val) rs751746139 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.10877C>T (p.Thr3626Met) rs376067762 0.00001
NM_001369.3(DNAH5):c.11326G>A (p.Val3776Ile) rs559545340 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.12033+4A>G rs746256175 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.12631G>A (p.Glu4211Lys) rs762673561 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.13077G>A (p.Leu4359=) rs148805204 0.00001
NM_001369.3(DNAH5):c.13540T>C (p.Cys4514Arg) rs916403814 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.257A>G (p.Asp86Gly) rs147441805 0.00001
NM_001369.3(DNAH5):c.3013A>T (p.Asn1005Tyr) rs770975422 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.3427C>T (p.Arg1143Cys) rs775816222 0.00001
NM_001369.3(DNAH5):c.3642G>A (p.Met1214Ile) rs1364628669 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.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.4787T>G (p.Leu1596Arg) rs1242688686 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.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.5705A>G (p.Asp1902Gly) rs776748041 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.6004G>A (p.Val2002Met) rs148279547 0.00001
NM_001369.3(DNAH5):c.6305G>A (p.Arg2102His) rs876657782 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.6764G>A (p.Arg2255Gln) rs1317585354 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.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.7515G>A (p.Glu2505=) rs1032671138 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.8315G>A (p.Arg2772Gln) rs755210201 0.00001
NM_001369.3(DNAH5):c.8353C>T (p.Pro2785Ser) rs1167219863 0.00001
NM_001369.3(DNAH5):c.8517T>A (p.Asp2839Glu) rs1318152994 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.9213C>T (p.His3071=) rs563907105 0.00001
NM_001369.3(DNAH5):c.9229C>T (p.Arg3077Trp) rs1426289211 0.00001
NM_001369.3(DNAH5):c.9287G>A (p.Arg3096Gln) rs1388732051 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.9720+5G>A rs763440781 0.00001
NM_001369.3(DNAH5):c.9897+9A>G rs774932799 0.00001
NM_012144.4(DNAI1):c.1084C>T (p.Arg362Trp) rs147893084 0.00001
NM_012144.4(DNAI1):c.1085G>A (p.Arg362Gln) rs372361587 0.00001
NM_012144.4(DNAI1):c.1395C>T (p.Leu465=) rs764446899 0.00001
NM_012144.4(DNAI1):c.1607A>G (p.Tyr536Cys) rs144611423 0.00001
NM_012144.4(DNAI1):c.1665C>T (p.Val555=) rs147469181 0.00001
NM_012144.4(DNAI1):c.1736A>G (p.Tyr579Cys) rs760852851 0.00001
NM_012144.4(DNAI1):c.1772C>T (p.Ala591Val) rs751197523 0.00001
NM_012144.4(DNAI1):c.1941C>T (p.Gly647=) rs1022057422 0.00001
NM_012144.4(DNAI1):c.359G>A (p.Arg120Gln) rs375547221 0.00001
NM_012144.4(DNAI1):c.550A>G (p.Lys184Glu) rs1236356655 0.00001
NM_012144.4(DNAI1):c.619C>T (p.Arg207Trp) rs749119217 0.00001
NM_012144.4(DNAI1):c.697G>A (p.Ala233Thr) rs747538328 0.00001
NM_012144.4(DNAI1):c.872A>G (p.Asn291Ser) rs1824742637 0.00001
NM_012144.4(DNAI1):c.902-8T>C rs755259202 0.00001
NM_023036.6(DNAI2):c.1347+6G>A rs769832640 0.00001
NM_023036.6(DNAI2):c.1415A>G (p.Gln472Arg) rs765028301 0.00001
NM_023036.6(DNAI2):c.1543C>T (p.Arg515Trp) rs748717910 0.00001
NM_023036.6(DNAI2):c.1699G>A (p.Ala567Thr) rs778391861 0.00001
NM_023036.6(DNAI2):c.215G>A (p.Arg72Gln) rs200668134 0.00001
NM_023036.6(DNAI2):c.265G>A (p.Glu89Lys) rs1200979339 0.00001
NM_023036.6(DNAI2):c.467+5C>T rs529401265 0.00001
NM_023036.6(DNAI2):c.866T>C (p.Val289Ala) rs761883293 0.00001
NM_023036.6(DNAI2):c.978A>T (p.Glu326Asp) rs763193003 0.00001
NM_001369.3(DNAH5):c.10044C>T (p.Pro3348=) rs369902800
NM_001369.3(DNAH5):c.1013C>G (p.Thr338Ser) rs1390111024
NM_001369.3(DNAH5):c.10301A>G (p.Glu3434Gly) rs1751407075
NM_001369.3(DNAH5):c.10415A>G (p.Lys3472Arg) rs1057517890
NM_001369.3(DNAH5):c.10639C>G (p.Arg3547Gly) rs747041428
NM_001369.3(DNAH5):c.10712CTA[1] (p.Thr3572del) rs773869600
NM_001369.3(DNAH5):c.11168T>A (p.Leu3723Gln) rs1554033862
NM_001369.3(DNAH5):c.11357G>C (p.Ser3786Thr) rs777928542
NM_001369.3(DNAH5):c.11623A>G (p.Met3875Val) rs1044439678
NM_001369.3(DNAH5):c.11726G>A (p.Arg3909Gln) rs761043906
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.12033+7A>C rs77541151
NM_001369.3(DNAH5):c.12151A>G (p.Met4051Val) rs138162689
NM_001369.3(DNAH5):c.12248C>A (p.Ala4083Asp) rs1201132518
NM_001369.3(DNAH5):c.1234A>G (p.Ile412Val) rs1580867247
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.12513C>A (p.Asp4171Glu) rs547445590
NM_001369.3(DNAH5):c.12557A>G (p.Tyr4186Cys) rs368413636
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.12936G>A (p.Glu4312=) rs773285536
NM_001369.3(DNAH5):c.13266C>G (p.Ile4422Met) rs1561084758
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.13513G>T (p.Gly4505Cys) rs1742005673
NM_001369.3(DNAH5):c.13535T>C (p.Val4512Ala) rs1742002283
NM_001369.3(DNAH5):c.13569C>A (p.Asp4523Glu) rs151080414
NM_001369.3(DNAH5):c.13765A>G (p.Lys4589Glu) rs1397044941
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.1536G>A (p.Gln512=) rs541266118
NM_001369.3(DNAH5):c.1638C>A (p.Asp546Glu) rs375037194
NM_001369.3(DNAH5):c.1884G>A (p.Leu628=) rs534702284
NM_001369.3(DNAH5):c.1913A>G (p.Gln638Arg) rs1774599890
NM_001369.3(DNAH5):c.2004G>C (p.Lys668Asn) rs1226480889
NM_001369.3(DNAH5):c.2193C>T (p.Val731=) rs766072810
NM_001369.3(DNAH5):c.2479C>A (p.Arg827Ser) rs760986984
NM_001369.3(DNAH5):c.259G>A (p.Val87Met) rs1778067241
NM_001369.3(DNAH5):c.2717G>C (p.Ser906Thr) rs540038644
NM_001369.3(DNAH5):c.2753AAG[1] (p.Glu919del) rs762827509
NM_001369.3(DNAH5):c.3415G>C (p.Asp1139His) rs1554085372
NM_001369.3(DNAH5):c.356A>G (p.Asn119Ser) rs1777508838
NM_001369.3(DNAH5):c.3640A>G (p.Met1214Val) rs766505155
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.4042G>T (p.Asp1348Tyr) rs368748560
NM_001369.3(DNAH5):c.438+5G>C rs776343117
NM_001369.3(DNAH5):c.4559T>C (p.Met1520Thr) rs916516633
NM_001369.3(DNAH5):c.4753A>G (p.Met1585Val) rs1580641242
NM_001369.3(DNAH5):c.4916T>C (p.Phe1639Ser) rs1768079158
NM_001369.3(DNAH5):c.4950G>A (p.Lys1650=) rs1768073068
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.5219C>T (p.Ala1740Val) rs1554074458
NM_001369.3(DNAH5):c.5271+5G>A rs749394641
NM_001369.3(DNAH5):c.5281C>A (p.Arg1761=) rs148891849
NM_001369.3(DNAH5):c.5392T>C (p.Ser1798Pro) rs1060501468
NM_001369.3(DNAH5):c.5439A>T (p.Glu1813Asp) rs754274080
NM_001369.3(DNAH5):c.6014A>G (p.Asn2005Ser) rs1375968864
NM_001369.3(DNAH5):c.6049C>T (p.Arg2017Trp) rs143679999
NM_001369.3(DNAH5):c.6676A>G (p.Ile2226Val) rs750936569
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.7579_7590del (p.Thr2527_Asp2530del) rs1554058577
NM_001369.3(DNAH5):c.7679G>A (p.Gly2560Asp) rs1554058022
NM_001369.3(DNAH5):c.7742A>G (p.Lys2581Arg) rs1279883936
NM_001369.3(DNAH5):c.8170T>A (p.Phe2724Ile) rs753702337
NM_001369.3(DNAH5):c.8410A>G (p.Met2804Val) rs199629940
NM_001369.3(DNAH5):c.8552T>C (p.Val2851Ala) rs1756491046
NM_001369.3(DNAH5):c.8820+6G>A rs201287534
NM_001369.3(DNAH5):c.882C>T (p.Leu294=) rs754754549
NM_001369.3(DNAH5):c.9125G>A (p.Arg3042Gln) rs200839716
NM_001369.3(DNAH5):c.912G>A (p.Leu304=) rs1776989378
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.935T>G (p.Val312Gly) rs762677340
NM_001369.3(DNAH5):c.9452C>G (p.Ser3151Cys) rs1243099431
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.9751G>T (p.Ala3251Ser) rs139293893
NM_001369.3(DNAH5):c.9871T>C (p.Leu3291=) rs1379421295
NM_001369.3(DNAH5):c.9896A>G (p.Gln3299Arg) rs727503902
NM_001369.3(DNAH5):c.9907C>A (p.Pro3303Thr) rs770166503
NM_012144.4(DNAI1):c.1006A>T (p.Thr336Ser) rs1319380844
NM_012144.4(DNAI1):c.119A>G (p.Asp40Gly) rs553371109
NM_012144.4(DNAI1):c.1204G>A (p.Gly402Ser) rs746647838
NM_012144.4(DNAI1):c.1264T>C (p.Phe422Leu) rs1256336794
NM_012144.4(DNAI1):c.1401+3_1401+10del rs765551840
NM_012144.4(DNAI1):c.1489G>A (p.Gly497Ser) rs1212462636
NM_012144.4(DNAI1):c.1538T>C (p.Leu513Pro) rs1554691352
NM_012144.4(DNAI1):c.1599C>A (p.Leu533=) rs150785761
NM_012144.4(DNAI1):c.1676G>A (p.Cys559Tyr) rs1335386227
NM_012144.4(DNAI1):c.2035G>C (p.Ala679Pro) rs111887810
NM_012144.4(DNAI1):c.228C>A (p.His76Gln) rs760014707
NM_012144.4(DNAI1):c.22G>C (p.Ala8Pro) rs11547035
NM_012144.4(DNAI1):c.244G>C (p.Val82Leu) rs1564031598
NM_012144.4(DNAI1):c.309C>T (p.His103=) rs1055150779
NM_012144.4(DNAI1):c.389-4C>G rs767845991
NM_012144.4(DNAI1):c.788T>C (p.Met263Thr) rs1228318421
NM_012144.4(DNAI1):c.803C>T (p.Ser268Phe) rs1824648112
NM_023036.6(DNAI2):c.1130C>A (p.Pro377Gln) rs199726930
NM_023036.6(DNAI2):c.1153G>A (p.Asp385Asn) rs567531807
NM_023036.6(DNAI2):c.1165C>G (p.Arg389Gly) rs375896715
NM_023036.6(DNAI2):c.1177G>A (p.Glu393Lys) rs1204464128
NM_023036.6(DNAI2):c.119A>G (p.Gln40Arg) rs1060502200
NM_023036.6(DNAI2):c.1252G>A (p.Val418Met) rs564337753
NM_023036.6(DNAI2):c.1401C>G (p.Ile467Met) rs371989598
NM_023036.6(DNAI2):c.1600G>A (p.Asp534Asn) rs538543314
NM_023036.6(DNAI2):c.1663A>G (p.Ile555Val) rs146727740
NM_023036.6(DNAI2):c.1786G>A (p.Gly596Arg) rs1486049035
NM_023036.6(DNAI2):c.296A>C (p.Lys99Thr) rs200125805
NM_023036.6(DNAI2):c.340G>A (p.Gly114Ser) rs764225804
NM_023036.6(DNAI2):c.341G>T (p.Gly114Val) rs1271406619
NM_023036.6(DNAI2):c.467+6G>A rs1486894999
NM_023036.6(DNAI2):c.701G>A (p.Gly234Asp) rs897911822
NM_023036.6(DNAI2):c.810C>G (p.Ile270Met) rs2052655463

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.