ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 649
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HGVS dbSNP gnomAD frequency
NM_001369.3(DNAH5):c.2431+5G>A rs369244905 0.00026
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs) rs397515540 0.00019
NM_001369.3(DNAH5):c.4360C>T (p.Arg1454Ter) rs148139814 0.00019
NM_001369.3(DNAH5):c.4361G>A (p.Arg1454Gln) rs542708170 0.00013
NM_001369.3(DNAH5):c.7502G>C (p.Arg2501Pro) rs78853309 0.00011
NM_001369.3(DNAH5):c.8387A>G (p.Asp2796Gly) rs727502974 0.00007
NM_001369.3(DNAH5):c.10616G>A (p.Arg3539His) rs769458738 0.00006
NM_001369.3(DNAH5):c.13486C>T (p.Arg4496Ter) rs200901816 0.00006
NM_001369.3(DNAH5):c.1089+1G>A rs574586008 0.00005
NM_001369.3(DNAH5):c.6249G>A (p.Met2083Ile) rs753614861 0.00005
NM_001369.3(DNAH5):c.10384C>T (p.Gln3462Ter) rs571919972 0.00004
NM_001369.3(DNAH5):c.8404C>T (p.Gln2802Ter) rs1193586811 0.00004
NM_001369.3(DNAH5):c.10615C>T (p.Arg3539Cys) rs1304504006 0.00003
NM_001369.3(DNAH5):c.1730G>C (p.Arg577Thr) rs397515541 0.00003
NM_001369.3(DNAH5):c.3905del (p.Leu1302fs) rs754698253 0.00003
NM_001369.3(DNAH5):c.4116G>C (p.Gln1372His) rs139463637 0.00003
NM_001369.3(DNAH5):c.46C>T (p.Arg16Ter) rs772230378 0.00003
NM_001369.3(DNAH5):c.5647C>T (p.Arg1883Ter) rs575017579 0.00003
NM_001369.3(DNAH5):c.5710-2A>G rs548521732 0.00003
NM_001369.3(DNAH5):c.6444+1G>A rs781236248 0.00003
NM_001369.3(DNAH5):c.11653C>T (p.Arg3885Ter) rs756032160 0.00002
NM_001369.3(DNAH5):c.12617G>A (p.Trp4206Ter) rs372118787 0.00002
NM_001369.3(DNAH5):c.1432C>T (p.Arg478Ter) rs747900131 0.00002
NM_001369.3(DNAH5):c.5290T>C (p.Ser1764Pro) rs748763552 0.00002
NM_001369.3(DNAH5):c.6763C>T (p.Arg2255Ter) rs745918507 0.00002
NM_001369.3(DNAH5):c.6791G>A (p.Ser2264Asn) rs78484669 0.00002
NM_001369.3(DNAH5):c.8311C>T (p.Arg2771Cys) rs769557047 0.00002
NM_001369.3(DNAH5):c.8488dup (p.Ile2830fs) rs766847199 0.00002
NM_001369.3(DNAH5):c.8642C>G (p.Ala2881Gly) rs727502973 0.00002
NM_001369.3(DNAH5):c.10138G>T (p.Glu3380Ter) rs1751975175 0.00001
NM_001369.3(DNAH5):c.10226G>C (p.Trp3409Ser) rs755407407 0.00001
NM_001369.3(DNAH5):c.10377del (p.Asp3459fs) rs2126727754 0.00001
NM_001369.3(DNAH5):c.10441C>T (p.Arg3481Ter) rs886039500 0.00001
NM_001369.3(DNAH5):c.1054G>T (p.Glu352Ter) rs189080233 0.00001
NM_001369.3(DNAH5):c.10825C>T (p.Gln3609Ter) rs749980719 0.00001
NM_001369.3(DNAH5):c.10910del (p.Leu3637fs) rs769691189 0.00001
NM_001369.3(DNAH5):c.11029-2A>T rs369312501 0.00001
NM_001369.3(DNAH5):c.12009G>A (p.Trp4003Ter) rs2126564103 0.00001
NM_001369.3(DNAH5):c.12107G>A (p.Trp4036Ter) rs760104757 0.00001
NM_001369.3(DNAH5):c.12265C>T (p.Gln4089Ter) rs1060501456 0.00001
NM_001369.3(DNAH5):c.12500-14A>G rs2126510171 0.00001
NM_001369.3(DNAH5):c.13018C>T (p.Gln4340Ter) rs548721070 0.00001
NM_001369.3(DNAH5):c.13285C>T (p.Arg4429Ter) rs1743041017 0.00001
NM_001369.3(DNAH5):c.13338+5G>A rs374718437 0.00001
NM_001369.3(DNAH5):c.13426C>T (p.Arg4476Ter) rs767716511 0.00001
NM_001369.3(DNAH5):c.13626_13627insAAAA (p.Ala4543fs) rs1741984828 0.00001
NM_001369.3(DNAH5):c.13633T>C (p.Trp4545Arg) rs1161303371 0.00001
NM_001369.3(DNAH5):c.13729C>T (p.Arg4577Ter) rs1365275304 0.00001
NM_001369.3(DNAH5):c.1828C>T (p.Gln610Ter) rs121908853 0.00001
NM_001369.3(DNAH5):c.2224C>T (p.Arg742Ter) rs776686983 0.00001
NM_001369.3(DNAH5):c.252T>G (p.Tyr84Ter) rs754982008 0.00001
NM_001369.3(DNAH5):c.2533C>T (p.Gln845Ter) rs1060501458 0.00001
NM_001369.3(DNAH5):c.2674del (p.Val892fs) rs1772380356 0.00001
NM_001369.3(DNAH5):c.277G>A (p.Gly93Arg) rs1428534050 0.00001
NM_001369.3(DNAH5):c.2844_2845del (p.Glu949fs) rs1772219649 0.00001
NM_001369.3(DNAH5):c.3403del (p.Ile1135fs) rs1199019362 0.00001
NM_001369.3(DNAH5):c.3444G>A (p.Trp1148Ter) rs771350745 0.00001
NM_001369.3(DNAH5):c.3484C>T (p.Gln1162Ter) rs760081822 0.00001
NM_001369.3(DNAH5):c.3529C>T (p.Gln1177Ter) rs1050312639 0.00001
NM_001369.3(DNAH5):c.4117-2A>G rs1467301649 0.00001
NM_001369.3(DNAH5):c.4237C>T (p.Gln1413Ter) rs752734772 0.00001
NM_001369.3(DNAH5):c.4314del (p.Asn1438fs) rs765355281 0.00001
NM_001369.3(DNAH5):c.4348C>T (p.Gln1450Ter) rs771663107 0.00001
NM_001369.3(DNAH5):c.4464del (p.Ser1488fs) rs1464198654 0.00001
NM_001369.3(DNAH5):c.5114+1G>C rs878854457 0.00001
NM_001369.3(DNAH5):c.5146C>T (p.Arg1716Trp) rs368644722 0.00001
NM_001369.3(DNAH5):c.5177T>C (p.Leu1726Pro) rs138890576 0.00001
NM_001369.3(DNAH5):c.5557A>T (p.Lys1853Ter) rs748618094 0.00001
NM_001369.3(DNAH5):c.5883-1G>A rs1195745037 0.00001
NM_001369.3(DNAH5):c.5883-2A>G rs1580465796 0.00001
NM_001369.3(DNAH5):c.5983C>T (p.Arg1995Ter) rs773711154 0.00001
NM_001369.3(DNAH5):c.5992G>A (p.Gly1998Arg) rs1298790222 0.00001
NM_001369.3(DNAH5):c.6261T>G (p.Tyr2087Ter) rs1335539930 0.00001
NM_001369.3(DNAH5):c.6304C>T (p.Arg2102Cys) rs767019228 0.00001
NM_001369.3(DNAH5):c.6308C>A (p.Ser2103Ter) rs769260126 0.00001
NM_001369.3(DNAH5):c.6335_6336insT (p.Gln2112fs) rs779506456 0.00001
NM_001369.3(DNAH5):c.6444G>A (p.Gln2148=) rs769544175 0.00001
NM_001369.3(DNAH5):c.670C>T (p.Arg224Ter) rs771463510 0.00001
NM_001369.3(DNAH5):c.6898C>T (p.Gln2300Ter) rs1157521172 0.00001
NM_001369.3(DNAH5):c.7096C>T (p.Arg2366Trp) rs868151020 0.00001
NM_001369.3(DNAH5):c.7774C>T (p.Gln2592Ter) rs200922851 0.00001
NM_001369.3(DNAH5):c.7915C>T (p.Arg2639Ter) rs375053470 0.00001
NM_001369.3(DNAH5):c.8010+3A>G rs748171209 0.00001
NM_001369.3(DNAH5):c.8029C>T (p.Arg2677Ter) rs775946081 0.00001
NM_001369.3(DNAH5):c.8030G>A (p.Arg2677Gln) rs886043448 0.00001
NM_001369.3(DNAH5):c.8314C>T (p.Arg2772Ter) rs781469274 0.00001
NM_001369.3(DNAH5):c.832del (p.Ala278fs) rs727502977 0.00001
NM_001369.3(DNAH5):c.8383C>T (p.Arg2795Ter) rs560398270 0.00001
NM_001369.3(DNAH5):c.8440_8447del (p.Lys2813_Glu2814insTer) rs755136231 0.00001
NM_001369.3(DNAH5):c.8497C>T (p.Arg2833Cys) rs766481283 0.00001
NM_001369.3(DNAH5):c.8498G>A (p.Arg2833His) rs753130398 0.00001
NM_001369.3(DNAH5):c.870G>A (p.Trp290Ter) rs916132038 0.00001
NM_001369.3(DNAH5):c.8827C>T (p.Arg2943Cys) rs758324905 0.00001
NM_001369.3(DNAH5):c.8998C>T (p.Arg3000Ter) rs769054713 0.00001
NM_001369.3(DNAH5):c.9018C>T (p.Gly3006=) rs1754239719 0.00001
NM_001369.3(DNAH5):c.9286C>T (p.Arg3096Ter) rs868444911 0.00001
NM_001369.3(DNAH5):c.9346C>T (p.Arg3116Ter) rs1264701182 0.00001
NM_001369.3(DNAH5):c.9379G>T (p.Glu3127Ter) rs758303032 0.00001
NM_001369.3(DNAH5):c.9427A>T (p.Lys3143Ter) rs765325621 0.00001
NM_001369.3(DNAH5):c.9502C>T (p.Arg3168Ter) rs863224504 0.00001
NM_001369.3(DNAH5):c.9637del (p.Ala3213fs) rs1305797678 0.00001
NM_001369.3(DNAH5):c.9682del (p.Glu3228fs) rs748168087 0.00001
NM_001369.3(DNAH5):c.9694C>T (p.Gln3232Ter) rs369683202 0.00001
NM_001369.3(DNAH5):c.9720+5G>A rs763440781 0.00001
NM_001369.3(DNAH5):c.9778C>T (p.Gln3260Ter) rs1752923333 0.00001
NM_001369.3(DNAH5):c.9897+1G>C rs914675446 0.00001
NM_001369.3(DNAH5):c.9980del (p.Leu3327fs) rs1752478598 0.00001
NC_000005.10:g.(?_13691964)_(13944458_?)del
NC_000005.10:g.(?_13718872)_(13721255_?)del
NC_000005.10:g.(?_13765956)_(13769635_?)del
NC_000005.10:g.(?_13765966)_(13769625_?)del
NC_000005.10:g.(?_13809024)_(13811843_?)del
NC_000005.10:g.(?_13824199)_(13830775_?)del
NC_000005.10:g.(?_13830078)_(13842859_?)del
NC_000005.10:g.(?_13864377)_(13868012_?)del
NC_000005.10:g.(?_13864387)_(13868002_?)del
NC_000005.10:g.(?_13913723)_(13913978_?)del
NC_000005.10:g.13714619CT[1] rs2126493943
NC_000005.10:g.13769609ATTC[1] rs1580143916
NC_000005.10:g.13829680_13829681delinsT rs1060501457
NC_000005.10:g.13830078_13842859del
NC_000005.10:g.13864487_13874687del
NC_000005.10:g.13886130del rs2547043262
NC_000005.9:g.(?_13692093)_(13923569_?)del
NC_000005.9:g.(?_13692093)_(13931373_?)del
NC_000005.9:g.(?_13716586)_(13721364_?)del
NC_000005.9:g.(?_13716776)_(13717798_?)del
NC_000005.9:g.(?_13751177)_(13754457_?)del
NC_000005.9:g.(?_13769049)_(13769744_?)del
NC_000005.9:g.(?_13769049)_(13771109_?)del
NC_000005.9:g.(?_13780928)_(13781078_?)del
NC_000005.9:g.(?_13792083)_(13792346_?)del
NC_000005.9:g.(?_13793604)_(13794187_?)del
NC_000005.9:g.(?_13807680)_(13845122_?)del
NC_000005.9:g.(?_13809143)_(13810379_?)del
NC_000005.9:g.(?_13814806)_(13816871_?)del
NC_000005.9:g.(?_13817647)_(13820618_?)del
NC_000005.9:g.(?_13820435)_(13820628_?)del
NC_000005.9:g.(?_13823362)_(13944557_?)del
NC_000005.9:g.(?_13824302)_(13830890_?)del
NC_000005.9:g.(?_13839445)_(13845122_?)del
NC_000005.9:g.(?_13844936)_(13845112_?)del
NC_000005.9:g.(?_13850741)_(13850944_?)del
NC_000005.9:g.(?_13859541)_(13866035_?)del
NC_000005.9:g.(?_13864596)_(13874796_?)del
NC_000005.9:g.(?_13894749)_(13917375_?)del
NC_000005.9:g.(?_13899162)_(13901374_?)del
NC_000005.9:g.(?_13900295)_(13901702_?)del
NC_000005.9:g.(?_13900305)_(13944557_?)del
NC_000005.9:g.(?_13922434)_(13923774_?)del
NC_000005.9:g.(?_13922434)_13923774del
NC_000005.9:g.(?_13923379)_(13923559_?)del
NC_000005.9:g.(?_13931199)_(13931373_?)del
NC_000005.9:g.(?_13931209)_(13931363_?)del
NM_001369.2(DNAH5):c.(?_-1)_(*1_?)del
NM_001369.2(DNAH5):c.278-?_438+?del
NM_001369.3(DNAH5):c.10051C>T (p.Gln3351Ter) rs770720791
NM_001369.3(DNAH5):c.10059del (p.Ser3353_Leu3354insTer) rs2546647978
NM_001369.3(DNAH5):c.10080del (p.Asn3361fs) rs750785582
NM_001369.3(DNAH5):c.10113dup (p.Asp3372fs) rs2546641227
NM_001369.3(DNAH5):c.10196dup (p.Cys3400fs) rs1751967064
NM_001369.3(DNAH5):c.10219_10233del (p.Cys3407_Lys3411del) rs1751962280
NM_001369.3(DNAH5):c.10222del (p.Ser3408fs) rs2546640593
NM_001369.3(DNAH5):c.10254_10255insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGCTTCCTTCTTTTCT (p.Ser3418_Ile3419insPhePhePhePhePhePheXaaXaaXaaXaaThrHisArgTrpGluLeuAsnAsnGluIleThrTrpThrGlnGluGlyGluTyrHisThrLeuGlyThrValAlaSerPhePheSer) rs2546640421
NM_001369.3(DNAH5):c.10280del (p.Lys3427fs) rs2126745441
NM_001369.3(DNAH5):c.10348G>T (p.Glu3450Ter) rs758739748
NM_001369.3(DNAH5):c.10399C>T (p.Gln3467Ter) rs772481807
NM_001369.3(DNAH5):c.10399_10400del (p.Gln3467fs) rs2546630731
NM_001369.3(DNAH5):c.10452_10464del (p.His3484fs) rs1580072662
NM_001369.3(DNAH5):c.10452del (p.His3484fs)
NM_001369.3(DNAH5):c.10473dup (p.Leu3492fs)
NM_001369.3(DNAH5):c.1047T>A (p.Tyr349Ter) rs1776735394
NM_001369.3(DNAH5):c.10504del (p.Arg3502fs) rs1554035330
NM_001369.3(DNAH5):c.10508G>A (p.Trp3503Ter) rs777987305
NM_001369.3(DNAH5):c.10522C>T (p.Gln3508Ter) rs1750671525
NM_001369.3(DNAH5):c.10526_10527del (p.Glu3509fs)
NM_001369.3(DNAH5):c.10590T>A (p.Tyr3530Ter)
NM_001369.3(DNAH5):c.10604_10608dup (p.Glu3537fs) rs1380450190
NM_001369.3(DNAH5):c.10719del (p.Ser3574fs) rs765980788
NM_001369.3(DNAH5):c.10735C>T (p.Gln3579Ter) rs2546615030
NM_001369.3(DNAH5):c.10853_10856del (p.Glu3618fs) rs1353723750
NM_001369.3(DNAH5):c.10858C>T (p.Arg3620Ter) rs1283070426
NM_001369.3(DNAH5):c.10870C>T (p.Gln3624Ter) rs1295167678
NM_001369.3(DNAH5):c.10900A>T (p.Arg3634Ter) rs1204076551
NM_001369.3(DNAH5):c.10930G>T (p.Gly3644Ter) rs1750339039
NM_001369.3(DNAH5):c.10952del (p.Asp3651fs) rs2546611714
NM_001369.3(DNAH5):c.10963G>T (p.Glu3655Ter) rs2546611663
NM_001369.3(DNAH5):c.10996A>T (p.Arg3666Ter) rs2546611536
NM_001369.3(DNAH5):c.11026A>T (p.Lys3676Ter) rs1750322897
NM_001369.3(DNAH5):c.11028+1del rs2546611390
NM_001369.3(DNAH5):c.11047_11050del (p.Lys3682_Glu3683insTer) rs1750178563
NM_001369.3(DNAH5):c.11070del (p.Phe3690fs) rs1750171365
NM_001369.3(DNAH5):c.11114del (p.Pro3705fs) rs2546608447
NM_001369.3(DNAH5):c.11127_11128del (p.Arg3710fs) rs768492048
NM_001369.3(DNAH5):c.11389C>T (p.Gln3797Ter) rs1467939954
NM_001369.3(DNAH5):c.11416_11417del (p.Glu3806fs) rs2126619946
NM_001369.3(DNAH5):c.1141_1147delinsACAGAGATGTGATCTTCTCAGAGGTATTATAGTAATGAGAGATACT (p.Tyr381_Ile383delinsThrGluMetTer) rs2547135179
NM_001369.3(DNAH5):c.11421del (p.Gln3808fs) rs2126619895
NM_001369.3(DNAH5):c.11425dup (p.Ile3809fs) rs2546568932
NM_001369.3(DNAH5):c.11448_11449insT (p.Arg3817Ter)
NM_001369.3(DNAH5):c.1144_1145insT (p.Ser382fs) rs1164515588
NM_001369.3(DNAH5):c.11459del (p.Ala3820fs) rs2546564284
NM_001369.3(DNAH5):c.11500_11512del (p.Leu3835fs) rs2126610936
NM_001369.3(DNAH5):c.11536C>T (p.Gln3846Ter) rs1443845070
NM_001369.3(DNAH5):c.11571-1G>A rs1481337703
NM_001369.3(DNAH5):c.11609del (p.Asn3870fs) rs2546561591
NM_001369.3(DNAH5):c.11611_11612del (p.Ile3871fs) rs2546561572
NM_001369.3(DNAH5):c.11638del (p.Tyr3880fs) rs2546561323
NM_001369.3(DNAH5):c.11658_11668del (p.Leu3887fs) rs2126607061
NM_001369.3(DNAH5):c.11676_11680dup (p.Leu3894fs) rs2546561012
NM_001369.3(DNAH5):c.1167_1168insGTGA (p.Ser390fs) rs2547135070
NM_001369.3(DNAH5):c.11725C>T (p.Arg3909Ter) rs1060501464
NM_001369.3(DNAH5):c.11804C>A (p.Ser3935Ter) rs1579942510
NM_001369.3(DNAH5):c.11810G>A (p.Trp3937Ter) rs527387894
NM_001369.3(DNAH5):c.11820_11821insTTAT (p.Ile3941fs) rs2546547153
NM_001369.3(DNAH5):c.11840del (p.Val3947fs) rs2546547058
NM_001369.3(DNAH5):c.11853del (p.Lys3951fs) rs1579942226
NM_001369.3(DNAH5):c.11857dup (p.Arg3953fs) rs2546546999
NM_001369.3(DNAH5):c.11860_11870del (p.Gln3954fs) rs2546546922
NM_001369.3(DNAH5):c.11895_11901del (p.Asn3965fs) rs1745933925
NM_001369.3(DNAH5):c.11907G>A (p.Trp3969Ter) rs1561122898
NM_001369.3(DNAH5):c.11923A>T (p.Lys3975Ter) rs2546542097
NM_001369.3(DNAH5):c.11935dup (p.Glu3979fs) rs2126564662
NM_001369.3(DNAH5):c.11941G>T (p.Glu3981Ter) rs1745928643
NM_001369.3(DNAH5):c.11970del (p.Asp3992fs) rs778289775
NM_001369.3(DNAH5):c.119T>G (p.Leu40Ter)
NM_001369.3(DNAH5):c.12031dup (p.Gln4011fs) rs2546541555
NM_001369.3(DNAH5):c.1208del (p.Gln403fs)
NM_001369.3(DNAH5):c.12109G>T (p.Glu4037Ter) rs775060022
NM_001369.3(DNAH5):c.12114_12127del (p.Glu4038fs)
NM_001369.3(DNAH5):c.12198_12203delinsCAAAAAAA (p.Leu4066fs) rs2546525299
NM_001369.3(DNAH5):c.12205G>T (p.Glu4069Ter) rs2546525282
NM_001369.3(DNAH5):c.12212_12213insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAATAGAAACCCG (p.Arg4071_Tyr4072insProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerGlyXaaXaaXaaLysLysLysLysLysLysLysLysIleGluThrArg) rs2546525239
NM_001369.3(DNAH5):c.12220del (p.Ser4074fs) rs1744988064
NM_001369.3(DNAH5):c.12224del (p.Met4075fs) rs1744987309
NM_001369.3(DNAH5):c.12238G>T (p.Glu4080Ter) rs142761474
NM_001369.3(DNAH5):c.12262C>T (p.Gln4088Ter) rs1245106080
NM_001369.3(DNAH5):c.12287G>A (p.Trp4096Ter) rs1744699899
NM_001369.3(DNAH5):c.12330del (p.Asp4110fs)
NM_001369.3(DNAH5):c.12391dup (p.Thr4131fs) rs2546518336
NM_001369.3(DNAH5):c.12397G>T (p.Glu4133Ter) rs376372961
NM_001369.3(DNAH5):c.12409C>T (p.Gln4137Ter) rs192894455
NM_001369.3(DNAH5):c.12495T>A (p.Tyr4165Ter) rs373536906
NM_001369.3(DNAH5):c.12495T>G (p.Tyr4165Ter) rs373536906
NM_001369.3(DNAH5):c.12500-1G>A rs1744470051
NM_001369.3(DNAH5):c.12510del (p.Asp4171fs) rs2546512880
NM_001369.3(DNAH5):c.12542G>A (p.Trp4181Ter)
NM_001369.3(DNAH5):c.1255del (p.Ser419fs) rs2547129637
NM_001369.3(DNAH5):c.12586C>T (p.Gln4196Ter) rs886059965
NM_001369.3(DNAH5):c.12599dup (p.Phe4201fs) rs1554020233
NM_001369.3(DNAH5):c.12614G>T (p.Gly4205Val) rs79185772
NM_001369.3(DNAH5):c.12630C>A (p.Tyr4210Ter) rs766099303
NM_001369.3(DNAH5):c.12631G>T (p.Glu4211Ter) rs762673561
NM_001369.3(DNAH5):c.12664C>T (p.Gln4222Ter) rs2126508639
NM_001369.3(DNAH5):c.12673C>T (p.Gln4225Ter) rs1390701361
NM_001369.3(DNAH5):c.12716G>A (p.Trp4239Ter) rs1744320103
NM_001369.3(DNAH5):c.12762_12763del (p.Arg4254fs) rs1579881985
NM_001369.3(DNAH5):c.12765del (p.Thr4256fs) rs2546509212
NM_001369.3(DNAH5):c.12778_12780del (p.Asp4260del) rs2546509113
NM_001369.3(DNAH5):c.12794del (p.Asn4265fs) rs2546509072
NM_001369.3(DNAH5):c.12813G>A (p.Trp4271Ter) rs763259925
NM_001369.3(DNAH5):c.12850dup (p.Tyr4284fs) rs1744302993
NM_001369.3(DNAH5):c.12858_12863delinsGTAAAAT (p.Tyr4287_Asn4288delinsTer) rs2546508833
NM_001369.3(DNAH5):c.12910-1G>C rs1561097225
NM_001369.3(DNAH5):c.13060del (p.Ala4354fs) rs1370489117
NM_001369.3(DNAH5):c.13096A>T (p.Lys4366Ter)
NM_001369.3(DNAH5):c.13126-2A>C rs863224503
NM_001369.3(DNAH5):c.13159C>T (p.Gln4387Ter) rs1195383216
NM_001369.3(DNAH5):c.13194_13197del (p.Asp4398fs) rs727502971
NM_001369.3(DNAH5):c.1320+2T>C rs2547129339
NM_001369.3(DNAH5):c.1326C>G (p.Tyr442Ter) rs1291311803
NM_001369.3(DNAH5):c.13300dup (p.Cys4434fs) rs2546487040
NM_001369.3(DNAH5):c.13309del (p.Asp4437fs) rs1743038020
NM_001369.3(DNAH5):c.13331G>A (p.Trp4444Ter) rs1060501467
NM_001369.3(DNAH5):c.13332G>A (p.Trp4444Ter) rs2546486911
NM_001369.3(DNAH5):c.13338del (p.Ala4447fs) rs1554017211
NM_001369.3(DNAH5):c.13346G>A (p.Trp4449Ter) rs1561073938
NM_001369.3(DNAH5):c.13412G>A (p.Trp4471Ter) rs761077963
NM_001369.3(DNAH5):c.1342A>T (p.Lys448Ter) rs1227276816
NM_001369.3(DNAH5):c.13432_13435del (p.His4478fs) rs760742856
NM_001369.3(DNAH5):c.13443G>A (p.Trp4481Ter) rs1742088018
NM_001369.3(DNAH5):c.13445del (p.Met4482fs) rs2546469352
NM_001369.3(DNAH5):c.13457_13475del (p.Phe4485_Phe4486insTer) rs2126409121
NM_001369.3(DNAH5):c.13458del (p.Phe4486fs) rs775696136
NM_001369.3(DNAH5):c.13458dup (p.Asn4487Ter) rs775696136
NM_001369.3(DNAH5):c.13465C>T (p.Gln4489Ter) rs2546469244
NM_001369.3(DNAH5):c.1351_1355del (p.Gln451fs) rs2151981160
NM_001369.3(DNAH5):c.13544dup (p.Asn4515fs) rs2126405266
NM_001369.3(DNAH5):c.1355del (p.Lys452fs) rs2547127583
NM_001369.3(DNAH5):c.13602T>A (p.Tyr4534Ter) rs1579806394
NM_001369.3(DNAH5):c.13656_13659del (p.Ile4553fs) rs2546466828
NM_001369.3(DNAH5):c.1373del (p.Asn458fs) rs1776339162
NM_001369.3(DNAH5):c.13746C>A (p.Tyr4582Ter) rs369094478
NM_001369.3(DNAH5):c.13753_13759dup (p.Tyr4587fs)
NM_001369.3(DNAH5):c.13774C>T (p.Arg4592Ter) rs758112779
NM_001369.3(DNAH5):c.1380del (p.Lys460fs) rs2151981122
NM_001369.3(DNAH5):c.1427_1428del (p.Phe476fs) rs774493427
NM_001369.3(DNAH5):c.1450del (p.Ile483_Ile484insTer) rs2547127233
NM_001369.3(DNAH5):c.1517dup (p.Asp506fs) rs1554101045
NM_001369.3(DNAH5):c.1534C>T (p.Gln512Ter) rs764935565
NM_001369.3(DNAH5):c.1562dup (p.Glu522fs) rs1775986353
NM_001369.3(DNAH5):c.1569C>G (p.Tyr523Ter) rs2151977768
NM_001369.3(DNAH5):c.1611C>G (p.Tyr537Ter) rs367877988
NM_001369.3(DNAH5):c.1627C>T (p.Gln543Ter) rs2151977668
NM_001369.3(DNAH5):c.1639del (p.Leu547fs) rs1580853061
NM_001369.3(DNAH5):c.1701del (p.Ala568fs)
NM_001369.3(DNAH5):c.1717A>T (p.Lys573Ter) rs776722304
NM_001369.3(DNAH5):c.1722del (p.Lys574fs) rs1164037667
NM_001369.3(DNAH5):c.1852C>T (p.Arg618Ter) rs778780449
NM_001369.3(DNAH5):c.1915C>T (p.Gln639Ter) rs1580809557
NM_001369.3(DNAH5):c.1924C>T (p.Gln642Ter) rs2547092303
NM_001369.3(DNAH5):c.1933C>T (p.Gln645Ter) rs2151962965
NM_001369.3(DNAH5):c.1988dup (p.Tyr663Ter) rs2547091970
NM_001369.3(DNAH5):c.1989C>A (p.Tyr663Ter) rs2547091952
NM_001369.3(DNAH5):c.2050C>T (p.Gln684Ter) rs1774569874
NM_001369.3(DNAH5):c.2053-18_2064del rs1774445982
NM_001369.3(DNAH5):c.2090T>A (p.Leu697Ter) rs1554096143
NM_001369.3(DNAH5):c.2100_2106del (p.Pro701fs) rs2547088109
NM_001369.3(DNAH5):c.2113G>T (p.Glu705Ter) rs780489890
NM_001369.3(DNAH5):c.2117_2136dup (p.Gln713delinsCysLeuTer) rs2547087818
NM_001369.3(DNAH5):c.2137C>T (p.Gln713Ter) rs2547087810
NM_001369.3(DNAH5):c.2154del (p.Phe718fs) rs2547087643
NM_001369.3(DNAH5):c.2250_2259+674del rs1561532139
NM_001369.3(DNAH5):c.2261dup (p.Met754fs) rs672601333
NM_001369.3(DNAH5):c.2262dup (p.Met755fs) rs2151953686
NM_001369.3(DNAH5):c.2283_2284del (p.Arg761fs) rs1462578042
NM_001369.3(DNAH5):c.232C>T (p.Arg78Ter) rs1314223921
NM_001369.3(DNAH5):c.2349dup (p.Ala784fs) rs2547068751
NM_001369.3(DNAH5):c.2440G>T (p.Glu814Ter) rs2547057694
NM_001369.3(DNAH5):c.2504T>A (p.Met835Lys) rs1554092890
NM_001369.3(DNAH5):c.2599C>T (p.Gln867Ter) rs1484394072
NM_001369.3(DNAH5):c.2660T>A (p.Leu887Ter) rs2151943036
NM_001369.3(DNAH5):c.2710G>T (p.Glu904Ter) rs1554090927
NM_001369.3(DNAH5):c.2714_2717dup (p.Ser906delinsArgTer) rs2547042312
NM_001369.3(DNAH5):c.271G>T (p.Glu91Ter) rs750649191
NM_001369.3(DNAH5):c.2734G>T (p.Glu912Ter) rs1772369775
NM_001369.3(DNAH5):c.2752G>T (p.Glu918Ter) rs2151941841
NM_001369.3(DNAH5):c.2772del (p.Thr924_Leu925insTer) rs1554090622
NM_001369.3(DNAH5):c.2774del (p.Thr924_Leu925insTer) rs2547038579
NM_001369.3(DNAH5):c.2834del (p.Lys945fs) rs2151941712
NM_001369.3(DNAH5):c.2839_2842del (p.Glu947fs) rs1772220687
NM_001369.3(DNAH5):c.2984-2A>C rs757801770
NM_001369.3(DNAH5):c.3020del (p.Leu1007fs) rs1771899943
NM_001369.3(DNAH5):c.3037_3040del (p.Val1014fs) rs1580731750
NM_001369.3(DNAH5):c.3115G>T (p.Glu1039Ter)
NM_001369.3(DNAH5):c.3128del (p.Ser1043fs)
NM_001369.3(DNAH5):c.3155_3162dup (p.Leu1055fs) rs2151938387
NM_001369.3(DNAH5):c.3184C>T (p.Gln1062Ter) rs1440167859
NM_001369.3(DNAH5):c.3259C>T (p.Gln1087Ter) rs1771846004
NM_001369.3(DNAH5):c.325A>T (p.Lys109Ter) rs2547160581
NM_001369.3(DNAH5):c.3262+1del rs2547030082
NM_001369.3(DNAH5):c.3291dup (p.Pro1098fs) rs762081081
NM_001369.3(DNAH5):c.3297del (p.Val1101fs) rs2547014293
NM_001369.3(DNAH5):c.3304C>T (p.Gln1102Ter) rs774143246
NM_001369.3(DNAH5):c.3341_3342del (p.Lys1114fs) rs768881056
NM_001369.3(DNAH5):c.3378_3379insTG (p.Ile1127Ter) rs1561487416
NM_001369.3(DNAH5):c.340_358del (p.Phe114fs) rs2151997211
NM_001369.3(DNAH5):c.3415G>C (p.Asp1139His) rs1554085372
NM_001369.3(DNAH5):c.3428del (p.Arg1143fs)
NM_001369.3(DNAH5):c.3443G>A (p.Trp1148Ter) rs1007367534
NM_001369.3(DNAH5):c.3457G>T (p.Glu1153Ter) rs779799358
NM_001369.3(DNAH5):c.3466del (p.Ile1156fs) rs775866092
NM_001369.3(DNAH5):c.349G>T (p.Glu117Ter) rs116128702
NM_001369.3(DNAH5):c.349del (p.Glu117fs) rs1580909690
NM_001369.3(DNAH5):c.3504del (p.Glu1168fs) rs2546999923
NM_001369.3(DNAH5):c.3514C>T (p.Gln1172Ter) rs141168110
NM_001369.3(DNAH5):c.3578del (p.Gly1193fs) rs2151920264
NM_001369.3(DNAH5):c.3589_3590del (p.Leu1197fs) rs1561477725
NM_001369.3(DNAH5):c.3598+1G>A rs2151920209
NM_001369.3(DNAH5):c.3598+2T>C rs981267400
NM_001369.3(DNAH5):c.3675C>G (p.Tyr1225Ter) rs769582678
NM_001369.3(DNAH5):c.376del (p.Val126fs) rs35129409
NM_001369.3(DNAH5):c.3784G>T (p.Glu1262Ter) rs1470329012
NM_001369.3(DNAH5):c.3912T>G (p.Tyr1304Ter) rs1769515132
NM_001369.3(DNAH5):c.3917G>A (p.Trp1306Ter) rs2546988377
NM_001369.3(DNAH5):c.3918G>A (p.Trp1306Ter) rs2546988372
NM_001369.3(DNAH5):c.3943G>T (p.Glu1315Ter) rs753397685
NM_001369.3(DNAH5):c.3949C>T (p.Gln1317Ter) rs1769508571
NM_001369.3(DNAH5):c.4078A>T (p.Lys1360Ter) rs1769232570
NM_001369.3(DNAH5):c.4084C>T (p.Gln1362Ter) rs1210217648
NM_001369.3(DNAH5):c.4084dup (p.Gln1362fs) rs2151911603
NM_001369.3(DNAH5):c.4087G>T (p.Glu1363Ter) rs776835054
NM_001369.3(DNAH5):c.4107_4111del (p.Met1370fs)
NM_001369.3(DNAH5):c.4146C>A (p.Tyr1382Ter)
NM_001369.3(DNAH5):c.4157del (p.Thr1386fs) rs1554082872
NM_001369.3(DNAH5):c.4201C>T (p.Gln1401Ter) rs1341570153
NM_001369.3(DNAH5):c.4218del (p.Lys1407fs)
NM_001369.3(DNAH5):c.4257C>A (p.Tyr1419Ter) rs1769153825
NM_001369.3(DNAH5):c.4262del (p.Ser1421fs)
NM_001369.3(DNAH5):c.426_427delinsG (p.Asp142fs) rs1777499541
NM_001369.3(DNAH5):c.4270G>T (p.Glu1424Ter) rs2151910789
NM_001369.3(DNAH5):c.4282_4295del (p.Tyr1429fs) rs2546982589
NM_001369.3(DNAH5):c.4290T>A (p.Tyr1430Ter) rs1769147841
NM_001369.3(DNAH5):c.4355+1del rs1769138467
NM_001369.3(DNAH5):c.4375dup (p.Ala1459fs) rs2151908870
NM_001369.3(DNAH5):c.4377del (p.Ala1459_Leu1460insTer) rs2546979181
NM_001369.3(DNAH5):c.4389G>A (p.Trp1463Ter)
NM_001369.3(DNAH5):c.4400dup (p.Leu1467fs) rs1252973555
NM_001369.3(DNAH5):c.4488G>A (p.Trp1496Ter) rs2546978701
NM_001369.3(DNAH5):c.4515_4516del (p.His1505fs) rs2151908560
NM_001369.3(DNAH5):c.4530del (p.Asn1511fs) rs1554082275
NM_001369.3(DNAH5):c.4534_4535dup (p.Ser1513fs) rs2546978451
NM_001369.3(DNAH5):c.4541_4559del (p.Phe1514fs) rs2546978367
NM_001369.3(DNAH5):c.4550_4551insGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAG (p.Asn1518fs) rs2151908470
NM_001369.3(DNAH5):c.4596+1G>T rs2151908362
NM_001369.3(DNAH5):c.4605dup (p.Ile1536fs) rs864622512
NM_001369.3(DNAH5):c.4612_4613insATGAAAGAGAGAGACATTGTAT (p.Ala1538fs) rs2546974166
NM_001369.3(DNAH5):c.4619_4622del (p.Lys1540fs) rs2151905927
NM_001369.3(DNAH5):c.4625_4628del (p.Arg1542fs) rs764262032
NM_001369.3(DNAH5):c.4627_4628del (p.Asp1543fs) rs764262032
NM_001369.3(DNAH5):c.4636C>T (p.Gln1546Ter) rs1344601147
NM_001369.3(DNAH5):c.4648C>T (p.Gln1550Ter) rs2546974004
NM_001369.3(DNAH5):c.4664G>A (p.Trp1555Ter) rs752620318
NM_001369.3(DNAH5):c.4695del (p.Phe1565fs) rs2151905765
NM_001369.3(DNAH5):c.4702del (p.Arg1568fs) rs1554081658
NM_001369.3(DNAH5):c.4786_4789del (p.Leu1596fs) rs2151905556
NM_001369.3(DNAH5):c.4966del (p.Ser1656fs) rs772381070
NM_001369.3(DNAH5):c.5005del (p.Ala1669fs)
NM_001369.3(DNAH5):c.5037T>A (p.Cys1679Ter) rs1580578744
NM_001369.3(DNAH5):c.5059C>T (p.Gln1687Ter) rs1188507108
NM_001369.3(DNAH5):c.506C>A (p.Ser169Ter) rs749078502
NM_001369.3(DNAH5):c.5114+1G>A rs878854457
NM_001369.3(DNAH5):c.5118C>G (p.Tyr1706Ter) rs1554074565
NM_001369.3(DNAH5):c.5130dup (p.Arg1711fs) rs1580543863
NM_001369.3(DNAH5):c.5131C>T (p.Arg1711Ter) rs760869074
NM_001369.3(DNAH5):c.5135del (p.Leu1712fs) rs2546923353
NM_001369.3(DNAH5):c.5147G>C (p.Arg1716Pro) rs74799487
NM_001369.3(DNAH5):c.5147G>T (p.Arg1716Leu) rs74799487
NM_001369.3(DNAH5):c.5154dup (p.Phe1719fs) rs2546923148
NM_001369.3(DNAH5):c.5162C>G (p.Ser1721Ter) rs1580543538
NM_001369.3(DNAH5):c.5198C>A (p.Ser1733Ter) rs146087064
NM_001369.3(DNAH5):c.5202del (p.Ser1735fs) rs2546922856
NM_001369.3(DNAH5):c.5221del (p.His1741fs) rs2546922682
NM_001369.3(DNAH5):c.5244del (p.Asn1748fs) rs2151870091
NM_001369.3(DNAH5):c.5266G>T (p.Glu1756Ter) rs116524991
NM_001369.3(DNAH5):c.5281C>T (p.Arg1761Ter) rs148891849
NM_001369.3(DNAH5):c.5326del (p.Asp1776fs) rs2546911765
NM_001369.3(DNAH5):c.5344del (p.Glu1782fs) rs2151861909
NM_001369.3(DNAH5):c.5389C>T (p.Gln1797Ter) rs2546911328
NM_001369.3(DNAH5):c.5399T>A (p.Leu1800Ter) rs1580524265
NM_001369.3(DNAH5):c.5424del (p.Ala1809fs) rs2546911114
NM_001369.3(DNAH5):c.5434del (p.Gln1812fs) rs2151861729
NM_001369.3(DNAH5):c.5482C>T (p.Gln1828Ter) rs1354919632
NM_001369.3(DNAH5):c.5485-1G>A
NM_001369.3(DNAH5):c.5532dup (p.Ala1845fs) rs2151860521
NM_001369.3(DNAH5):c.5563dup (p.Ile1855fs) rs752925056
NM_001369.3(DNAH5):c.5576_5582dup (p.Gln1861delinsHisTer) rs2151860358
NM_001369.3(DNAH5):c.5582A>C (p.Gln1861Pro) rs780320440
NM_001369.3(DNAH5):c.5588del (p.Phe1863fs) rs2151860332
NM_001369.3(DNAH5):c.559G>T (p.Glu187Ter) rs759059925
NM_001369.3(DNAH5):c.5601_5604dup (p.Thr1869fs) rs2546908228
NM_001369.3(DNAH5):c.5658C>G (p.Tyr1886Ter) rs6880264
NM_001369.3(DNAH5):c.5659G>T (p.Glu1887Ter) rs1179042084
NM_001369.3(DNAH5):c.5665_5666del (p.Leu1889fs) rs767779749
NM_001369.3(DNAH5):c.5769C>G (p.Tyr1923Ter) rs2151857318
NM_001369.3(DNAH5):c.581del (p.Asn194fs) rs2547155871
NM_001369.3(DNAH5):c.5827C>T (p.Gln1943Ter) rs2151857133
NM_001369.3(DNAH5):c.5866dup (p.Thr1956fs) rs2546902630
NM_001369.3(DNAH5):c.5881dup (p.Arg1961fs) rs1554072027
NM_001369.3(DNAH5):c.5883-1G>C rs1195745037
NM_001369.3(DNAH5):c.5883-2A>C rs1580465796
NM_001369.3(DNAH5):c.5890_5894dup (p.Leu1966fs) rs1436141222
NM_001369.3(DNAH5):c.5902C>T (p.Gln1968Ter) rs775125740
NM_001369.3(DNAH5):c.5926G>T (p.Gly1976Ter) rs751690064
NM_001369.3(DNAH5):c.5927del (p.Gly1976fs) rs1233412023
NM_001369.3(DNAH5):c.5928del (p.Ala1977fs) rs2546882292
NM_001369.3(DNAH5):c.5953_5954del (p.Gly1985fs) rs2151838095
NM_001369.3(DNAH5):c.5987_5998del (p.Cys1996_Lys1999del) rs2546881907
NM_001369.3(DNAH5):c.5999dup (p.Tyr2000Ter) rs1372787085
NM_001369.3(DNAH5):c.6000C>A (p.Tyr2000Ter) rs773208371
NM_001369.3(DNAH5):c.6025C>T (p.Gln2009Ter) rs1763540075
NM_001369.3(DNAH5):c.6037C>T (p.Arg2013Ter) rs1273352530
NM_001369.3(DNAH5):c.6061+1G>A rs772658660
NM_001369.3(DNAH5):c.6083G>A (p.Trp2028Ter) rs2546879148
NM_001369.3(DNAH5):c.6088T>G (p.Cys2030Gly) rs1763453207
NM_001369.3(DNAH5):c.6132del (p.Ala2045fs) rs2546878819
NM_001369.3(DNAH5):c.6165T>A (p.Cys2055Ter) rs2546878696
NM_001369.3(DNAH5):c.6173del (p.Glu2058fs) rs2546878658
NM_001369.3(DNAH5):c.6271C>T (p.Gln2091Ter)
NM_001369.3(DNAH5):c.628del (p.Leu210fs) rs2547155603
NM_001369.3(DNAH5):c.6293del (p.Lys2098fs) rs1060501461
NM_001369.3(DNAH5):c.6343del (p.Ile2114_Ile2115insTer) rs1474945018
NM_001369.3(DNAH5):c.6356T>A (p.Leu2119Ter) rs2546875919
NM_001369.3(DNAH5):c.6368del (p.Gly2123fs) rs2151835119
NM_001369.3(DNAH5):c.640C>T (p.Gln214Ter) rs2547155495
NM_001369.3(DNAH5):c.6423_6424del (p.Cys2141_Glu2142delinsTer) rs1580457416
NM_001369.3(DNAH5):c.6427G>T (p.Glu2143Ter) rs1064795496
NM_001369.3(DNAH5):c.6430C>T (p.Gln2144Ter) rs748882657
NM_001369.3(DNAH5):c.6442C>T (p.Gln2148Ter) rs777303718
NM_001369.3(DNAH5):c.6453T>A (p.Tyr2151Ter) rs2151824052
NM_001369.3(DNAH5):c.6483del (p.Leu2162fs) rs1180317009
NM_001369.3(DNAH5):c.6494T>A (p.Leu2165Ter) rs1762613802
NM_001369.3(DNAH5):c.6508dup (p.Arg2170fs) rs878854458
NM_001369.3(DNAH5):c.655G>T (p.Glu219Ter) rs2547155385
NM_001369.3(DNAH5):c.6605del (p.Phe2201_Leu2202insTer) rs1762470883
NM_001369.3(DNAH5):c.6611del (p.Ser2203_Leu2204insTer) rs2546853775
NM_001369.3(DNAH5):c.6682A>T (p.Arg2228Ter) rs1762460445
NM_001369.3(DNAH5):c.6739C>T (p.Gln2247Ter) rs2151814430
NM_001369.3(DNAH5):c.6754C>T (p.Gln2252Ter) rs2546843576
NM_001369.3(DNAH5):c.6757A>T (p.Arg2253Ter) rs2151814381
NM_001369.3(DNAH5):c.677del (p.Cys226fs) rs2547149457
NM_001369.3(DNAH5):c.6793_6809del (p.Gly2265fs) rs2151814193
NM_001369.3(DNAH5):c.6804del (p.Thr2269fs) rs2151814213
NM_001369.3(DNAH5):c.6815_6818dup (p.Thr2274fs) rs2546843111
NM_001369.3(DNAH5):c.6844del (p.Cys2282fs) rs1489564718
NM_001369.3(DNAH5):c.6902_6917del (p.Met2301fs) rs757162805
NM_001369.3(DNAH5):c.6932_6935del (p.Asp2311fs) rs1554062097
NM_001369.3(DNAH5):c.694A>T (p.Lys232Ter) rs2547149327
NM_001369.3(DNAH5):c.6962G>A (p.Trp2321Ter) rs2151807051
NM_001369.3(DNAH5):c.6988+2T>C rs2151806960
NM_001369.3(DNAH5):c.7034G>A (p.Trp2345Ter) rs755596256
NM_001369.3(DNAH5):c.7065_7066insTT (p.Asn2356fs) rs2151800607
NM_001369.3(DNAH5):c.7097G>A (p.Arg2366Gln) rs2151800505
NM_001369.3(DNAH5):c.717_729del (p.Asp239fs) rs2151992688
NM_001369.3(DNAH5):c.7231-11_7242del rs2546815057
NM_001369.3(DNAH5):c.7270del (p.Leu2424fs)
NM_001369.3(DNAH5):c.7276C>T (p.Gln2426Ter) rs1760754570
NM_001369.3(DNAH5):c.7288G>T (p.Glu2430Ter) rs575491117
NM_001369.3(DNAH5):c.7288dup (p.Glu2430fs) rs2546814805
NM_001369.3(DNAH5):c.7325del (p.Asn2442fs) rs2546814478
NM_001369.3(DNAH5):c.7335_7336del (p.Tyr2445_Lys2446delinsTer) rs2546814400
NM_001369.3(DNAH5):c.7340dup (p.Met2447fs) rs2127026775
NM_001369.3(DNAH5):c.7365dup (p.Thr2456fs) rs2127026526
NM_001369.3(DNAH5):c.7369C>T (p.Gln2457Ter) rs2127026486
NM_001369.3(DNAH5):c.7407+1G>A rs749711805
NM_001369.3(DNAH5):c.7420G>T (p.Glu2474Ter) rs776559491
NM_001369.3(DNAH5):c.7436_7450delinsC (p.His2479fs) rs1580363231
NM_001369.3(DNAH5):c.7437_7450del (p.Leu2480fs) rs2127015228
NM_001369.3(DNAH5):c.7455_7456dup (p.Phe2486fs) rs2127015093
NM_001369.3(DNAH5):c.7469G>A (p.Trp2490Ter) rs2546806644
NM_001369.3(DNAH5):c.7475dup (p.Ala2494fs) rs2546806603
NM_001369.3(DNAH5):c.7478_7500del (p.Gly2493fs) rs2127014587
NM_001369.3(DNAH5):c.7480dup (p.Ala2494fs) rs1760421077
NM_001369.3(DNAH5):c.7500_7503del (p.Arg2501fs) rs1465499923
NM_001369.3(DNAH5):c.7526_7527dup (p.Ser2510fs) rs2127014143
NM_001369.3(DNAH5):c.7536dup (p.Thr2513fs) rs1580362269
NM_001369.3(DNAH5):c.7540_7543dup (p.Thr2515fs) rs1196559591
NM_001369.3(DNAH5):c.7554_7578dup (p.Thr2527fs) rs2127013208
NM_001369.3(DNAH5):c.7596T>A (p.Tyr2532Ter) rs920106420
NM_001369.3(DNAH5):c.7616G>A (p.Trp2539Ter) rs2127007326
NM_001369.3(DNAH5):c.7625G>A (p.Trp2542Ter) rs2546801418
NM_001369.3(DNAH5):c.7647C>G (p.Tyr2549Ter) rs2546801150
NM_001369.3(DNAH5):c.7651dup (p.Tyr2551fs) rs1340018682
NM_001369.3(DNAH5):c.768C>A (p.Cys256Ter) rs2151992604
NM_001369.3(DNAH5):c.7717dup (p.Asp2573fs) rs2546800624
NM_001369.3(DNAH5):c.774dup (p.Val259fs) rs2547148858
NM_001369.3(DNAH5):c.7753-1G>T rs2546794222
NM_001369.3(DNAH5):c.7821T>G (p.Tyr2607Ter) rs2126996872
NM_001369.3(DNAH5):c.7858del (p.Ser2620fs) rs2126996545
NM_001369.3(DNAH5):c.7874del (p.Pro2625fs)
NM_001369.3(DNAH5):c.7898_7901del (p.Glu2633fs) rs1443540935
NM_001369.3(DNAH5):c.7914dup (p.Arg2639fs) rs749082955
NM_001369.3(DNAH5):c.791_794del (p.Thr264fs) rs1391084505
NM_001369.3(DNAH5):c.7985C>G (p.Pro2662Arg) rs981622980
NM_001369.3(DNAH5):c.7992del (p.Asn2665fs) rs2126913378
NM_001369.3(DNAH5):c.8000G>A (p.Trp2667Ter) rs1757433662
NM_001369.3(DNAH5):c.8024_8025dup (p.Val2676Ter) rs1060501459
NM_001369.3(DNAH5):c.8032C>T (p.Gln2678Ter) rs988596344
NM_001369.3(DNAH5):c.8044C>T (p.Gln2682Ter) rs1199634064
NM_001369.3(DNAH5):c.8132del (p.Gly2711fs) rs2546743308
NM_001369.3(DNAH5):c.8135del (p.Gly2712fs)
NM_001369.3(DNAH5):c.8161_8162del (p.Lys2721fs) rs2546743073
NM_001369.3(DNAH5):c.8167C>T (p.Gln2723Ter) rs1309660408
NM_001369.3(DNAH5):c.8250T>A (p.Cys2750Ter) rs2126901167
NM_001369.3(DNAH5):c.8272G>T (p.Glu2758Ter) rs2546737515
NM_001369.3(DNAH5):c.8321_8322insC (p.Trp2774fs) rs1554050517
NM_001369.3(DNAH5):c.8341del (p.Met2781fs) rs2546736986
NM_001369.3(DNAH5):c.8385del (p.Asp2796fs) rs1178766548
NM_001369.3(DNAH5):c.8404del (p.Gln2802fs)
NM_001369.3(DNAH5):c.8465G>A (p.Trp2822Ter) rs1060501455
NM_001369.3(DNAH5):c.8477del (p.Cys2826fs) rs2546724583
NM_001369.3(DNAH5):c.8489_8490dup (p.Ala2831Ter) rs2126882899
NM_001369.3(DNAH5):c.8497C>A (p.Arg2833Ser) rs766481283
NM_001369.3(DNAH5):c.850C>T (p.Arg284Ter) rs777361601
NM_001369.3(DNAH5):c.8528T>C (p.Phe2843Ser) rs77377082
NM_001369.3(DNAH5):c.8534dup (p.Ala2846fs) rs2546724200
NM_001369.3(DNAH5):c.8580del (p.Lys2860fs)
NM_001369.3(DNAH5):c.8606_8607del (p.Thr2869fs) rs1554049087
NM_001369.3(DNAH5):c.8630del (p.Asp2877fs) rs2546723616
NM_001369.3(DNAH5):c.8642del (p.Ala2881fs) rs2546723476
NM_001369.3(DNAH5):c.8685_8686insCC (p.Ile2896fs) rs2546713623
NM_001369.3(DNAH5):c.8751T>G (p.Tyr2917Ter) rs1755980161
NM_001369.3(DNAH5):c.8755G>T (p.Glu2919Ter) rs796964258
NM_001369.3(DNAH5):c.877dup (p.Arg293fs) rs781566109
NM_001369.3(DNAH5):c.8782_8786dup (p.Phe2930fs) rs1755969817
NM_001369.3(DNAH5):c.8821-1G>A rs1060501454
NM_001369.3(DNAH5):c.8821-1G>C rs1060501454
NM_001369.3(DNAH5):c.8821-1G>T rs1060501454
NM_001369.3(DNAH5):c.8821-29_8869del rs2546696615
NM_001369.3(DNAH5):c.8848G>T (p.Gly2950Ter) rs1338867680
NM_001369.3(DNAH5):c.885dup (p.Lys296fs) rs2547144420
NM_001369.3(DNAH5):c.8864del (p.Val2955fs) rs1561241156
NM_001369.3(DNAH5):c.8869del (p.Val2957fs) rs1580203399
NM_001369.3(DNAH5):c.886A>T (p.Lys296Ter) rs545061430
NM_001369.3(DNAH5):c.8875G>T (p.Gly2959Ter) rs147443285
NM_001369.3(DNAH5):c.893_896del (p.Asn298fs)
NM_001369.3(DNAH5):c.8947dup (p.Thr2983fs) rs2546695945
NM_001369.3(DNAH5):c.8966C>G (p.Ser2989Ter) rs1754250771
NM_001369.3(DNAH5):c.8999del (p.Arg3000fs) rs1580180757
NM_001369.3(DNAH5):c.9003_9004insAAACCTT (p.Ala3002fs) rs2126814118
NM_001369.3(DNAH5):c.9019A>T (p.Lys3007Ter) rs1754239306
NM_001369.3(DNAH5):c.9039dup (p.Thr3014fs) rs1754234425
NM_001369.3(DNAH5):c.9065C>A (p.Ser3022Ter) rs1754226636
NM_001369.3(DNAH5):c.90_105dup (p.Arg36fs) rs1778379197
NM_001369.3(DNAH5):c.9113_9117del (p.Asn3038fs) rs1466693703
NM_001369.3(DNAH5):c.9124C>T (p.Arg3042Ter) rs760595654
NM_001369.3(DNAH5):c.9183del (p.Arg3062fs)
NM_001369.3(DNAH5):c.9186del (p.Arg3062fs) rs2546679327
NM_001369.3(DNAH5):c.922del (p.Asp308fs) rs2547144206
NM_001369.3(DNAH5):c.9235C>T (p.Arg3079Ter) rs1175877764
NM_001369.3(DNAH5):c.9272dup (p.Glu3093fs)
NM_001369.3(DNAH5):c.9280A>T (p.Lys3094Ter) rs2126810319
NM_001369.3(DNAH5):c.9339G>A (p.Trp3113Ter) rs771586458
NM_001369.3(DNAH5):c.9354dup (p.Lys3119fs) rs2546678617
NM_001369.3(DNAH5):c.9365del (p.Ala3121_Leu3122insTer) rs1060501460
NM_001369.3(DNAH5):c.9374-2A>C
NM_001369.3(DNAH5):c.9374-2A>T rs1561215953
NM_001369.3(DNAH5):c.9396del (p.Tyr3133fs)
NM_001369.3(DNAH5):c.9399T>A (p.Tyr3133Ter) rs1753258436
NM_001369.3(DNAH5):c.9449del (p.Gly3150fs) rs727504802
NM_001369.3(DNAH5):c.9465_9466del (p.Val3156fs) rs2546663331
NM_001369.3(DNAH5):c.9480T>A (p.Cys3160Ter) rs764948792
NM_001369.3(DNAH5):c.9489T>G (p.Tyr3163Ter) rs185605880
NM_001369.3(DNAH5):c.9514dup (p.His3172fs) rs1561215326
NM_001369.3(DNAH5):c.952del (p.Ala318fs) rs2547144024
NM_001369.3(DNAH5):c.9530C>A (p.Ser3177Ter) rs2546663053
NM_001369.3(DNAH5):c.9534C>A (p.Tyr3178Ter) rs1580150353
NM_001369.3(DNAH5):c.9540del (p.Phe3181fs) rs2126785787
NM_001369.3(DNAH5):c.9557del (p.Lys3186fs) rs2126785666
NM_001369.3(DNAH5):c.958_959dup (p.Lys322fs) rs752110126
NM_001369.3(DNAH5):c.9605+1del rs2546662562
NM_001369.3(DNAH5):c.9620del (p.Leu3207fs) rs769691641
NM_001369.3(DNAH5):c.9679A>T (p.Lys3227Ter) rs2546658786
NM_001369.3(DNAH5):c.9682G>T (p.Glu3228Ter) rs2126779627
NM_001369.3(DNAH5):c.9730del (p.Glu3244fs) rs1223462735
NM_001369.3(DNAH5):c.9782del (p.Lys3261fs) rs2546656413
NM_001369.3(DNAH5):c.9799C>T (p.Gln3267Ter) rs923842695
NM_001369.3(DNAH5):c.9805del (p.Ile3269fs) rs2546656292
NM_001369.3(DNAH5):c.980G>A (p.Trp327Ter) rs1776744623
NM_001369.3(DNAH5):c.985G>T (p.Glu329Ter) rs2151986932
NM_001369.3(DNAH5):c.9877G>T (p.Glu3293Ter) rs2126775977
NM_001369.3(DNAH5):c.9883G>T (p.Glu3295Ter)
NM_001369.3(DNAH5):c.9897+1G>A rs914675446
NM_001369.3(DNAH5):c.9897+1G>T rs914675446
NM_001369.3(DNAH5):c.9897+1del rs1386707595
NM_001369.3(DNAH5):c.9975C>A (p.Cys3325Ter) rs771715883
NM_001369.3(DNAH5):c.997C>T (p.Arg333Ter) rs771956532
NM_001369.3(DNAH5):c.9990del (p.Gln3331fs) rs2126762332
NM_001369.3(DNAH5):c.9990dup (p.Gln3331fs) rs2126762332

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