ClinVar Miner

List of variants in gene DNAH5 reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 496
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HGVS dbSNP
NC_000005.10:g.(?_13691964)_(13692155_?)dup
NC_000005.10:g.(?_13768960)_(13794058_?)del
NC_000005.10:g.(?_13809024)_(13811843_?)del
NC_000005.10:g.(?_13824199)_(13830775_?)del
NC_000005.10:g.(?_13864377)_(13868012_?)del
NC_000005.10:g.(?_13913723)_(13913978_?)del
NM_001369.2(DNAH5):c.(?_-1)_(*1_?)del
NM_001369.2(DNAH5):c.(?_-1)_8448+?dup
NM_001369.2(DNAH5):c.10021C>G (p.Leu3341Val) rs751746139
NM_001369.2(DNAH5):c.10036A>G (p.Thr3346Ala) rs141971313
NM_001369.2(DNAH5):c.10066T>C (p.Leu3356=) rs138441172
NM_001369.2(DNAH5):c.100G>A (p.Asp34Asn)
NM_001369.2(DNAH5):c.10195G>A (p.Val3399Ile) rs749397968
NM_001369.2(DNAH5):c.10226G>C (p.Trp3409Ser) rs755407407
NM_001369.2(DNAH5):c.10282G>A (p.Ala3428Thr) rs760220268
NM_001369.2(DNAH5):c.10294G>T (p.Val3432Leu) rs143251588
NM_001369.2(DNAH5):c.10314C>T (p.Leu3438=) rs886376710
NM_001369.2(DNAH5):c.10323G>A (p.Met3441Ile) rs149133845
NM_001369.2(DNAH5):c.10367C>T (p.Ala3456Val) rs149956015
NM_001369.2(DNAH5):c.10384C>T (p.Gln3462Ter) rs571919972
NM_001369.2(DNAH5):c.10443A>T (p.Arg3481=) rs1554035381
NM_001369.2(DNAH5):c.10457T>C (p.Met3486Thr) rs141651941
NM_001369.2(DNAH5):c.10458G>A (p.Met3486Ile) rs376253368
NM_001369.2(DNAH5):c.10504delA (p.Arg3502Aspfs) rs1554035330
NM_001369.2(DNAH5):c.10545A>G (p.Lys3515=) rs727502972
NM_001369.2(DNAH5):c.10558G>T (p.Asp3520Tyr) rs766829989
NM_001369.2(DNAH5):c.10615C>T (p.Arg3539Cys) rs1304504006
NM_001369.2(DNAH5):c.10616G>A (p.Arg3539His) rs769458738
NM_001369.2(DNAH5):c.10715_10717delCTA (p.Thr3572del) rs773869600
NM_001369.2(DNAH5):c.10815delT (p.Pro3606Hisfs) rs397515540
NM_001369.2(DNAH5):c.10853_10856delAAAG (p.Glu3618Alafs) rs1353723750
NM_001369.2(DNAH5):c.10858C>T (p.Arg3620Ter) rs1283070426
NM_001369.2(DNAH5):c.10859G>T (p.Arg3620Leu) rs547014532
NM_001369.2(DNAH5):c.10877C>T (p.Thr3626Met) rs376067762
NM_001369.2(DNAH5):c.1089+1G>A
NM_001369.2(DNAH5):c.1090-8T>C rs16902950
NM_001369.2(DNAH5):c.10910delT (p.Leu3637Argfs) rs769691189
NM_001369.2(DNAH5):c.11063A>G (p.Asp3688Gly) rs878854454
NM_001369.2(DNAH5):c.11168T>A (p.Leu3723Gln) rs1554033862
NM_001369.2(DNAH5):c.11211+1G>A rs1554033855
NM_001369.2(DNAH5):c.1121T>C (p.Ile374Thr) rs147499872
NM_001369.2(DNAH5):c.11377G>A (p.Glu3793Lys)
NM_001369.2(DNAH5):c.11414C>A (p.Thr3805Lys) rs1554027892
NM_001369.2(DNAH5):c.11437C>T (p.Arg3813Trp) rs140948493
NM_001369.2(DNAH5):c.11476C>T (p.Leu3826Phe)
NM_001369.2(DNAH5):c.11519A>G (p.Tyr3840Cys)
NM_001369.2(DNAH5):c.11529G>A (p.Ser3843=) rs1024441903
NM_001369.2(DNAH5):c.11533C>T (p.Arg3845Cys) rs565819640
NM_001369.2(DNAH5):c.11570+5G>A rs771916783
NM_001369.2(DNAH5):c.11570+8T>C rs369789559
NM_001369.2(DNAH5):c.11586G>A (p.Pro3862=) rs755874851
NM_001369.2(DNAH5):c.11586G>C (p.Pro3862=) rs755874851
NM_001369.2(DNAH5):c.11631C>T (p.Tyr3877=) rs776957889
NM_001369.2(DNAH5):c.11653C>T (p.Arg3885Ter) rs756032160
NM_001369.2(DNAH5):c.11685C>G (p.Phe3895Leu) rs149892711
NM_001369.2(DNAH5):c.11694G>T (p.Leu3898Phe) rs200798994
NM_001369.2(DNAH5):c.11725C>T (p.Arg3909Ter) rs1060501464
NM_001369.2(DNAH5):c.11726G>A (p.Arg3909Gln)
NM_001369.2(DNAH5):c.11869G>A (p.Asp3957Asn) rs749548708
NM_001369.2(DNAH5):c.11883G>A (p.Gln3961=) rs1470925950
NM_001369.2(DNAH5):c.11907G>A (p.Trp3969Ter)
NM_001369.2(DNAH5):c.11934G>A (p.Pro3978=) rs370543923
NM_001369.2(DNAH5):c.11938G>A (p.Glu3980Lys)
NM_001369.2(DNAH5):c.11974G>C (p.Asp3992His) rs143251480
NM_001369.2(DNAH5):c.1198G>A (p.Val400Met) rs144575803
NM_001369.2(DNAH5):c.12033+7A>G rs77541151
NM_001369.2(DNAH5):c.12034G>C (p.Ala4012Pro) rs747828322
NM_001369.2(DNAH5):c.12044A>C (p.Tyr4015Ser) rs1060501463
NM_001369.2(DNAH5):c.1206T>A (p.Asn402Lys) rs140782270
NM_001369.2(DNAH5):c.12104C>T (p.Thr4035Met) rs200894344
NM_001369.2(DNAH5):c.12109G>C (p.Glu4037Gln) rs775060022
NM_001369.2(DNAH5):c.12124C>T (p.Arg4042Trp) rs768164911
NM_001369.2(DNAH5):c.12251G>A (p.Arg4084Gln) rs140832239
NM_001369.2(DNAH5):c.12265C>T (p.Gln4089Ter) rs1060501456
NM_001369.2(DNAH5):c.12349A>G (p.Ile4117Val) rs145501076
NM_001369.2(DNAH5):c.12361C>T (p.Leu4121Phe) rs144234655
NM_001369.2(DNAH5):c.12367C>T (p.His4123Tyr) rs151145750
NM_001369.2(DNAH5):c.12375G>A (p.Ala4125=) rs140284455
NM_001369.2(DNAH5):c.12379C>T (p.Arg4127Cys) rs148696723
NM_001369.2(DNAH5):c.12426C>T (p.Leu4142=) rs543738890
NM_001369.2(DNAH5):c.12465A>G (p.Gln4155=) rs34924315
NM_001369.2(DNAH5):c.12472C>T (p.Arg4158Trp) rs3756672
NM_001369.2(DNAH5):c.12492A>C (p.Thr4164=) rs141935657
NM_001369.2(DNAH5):c.12499+2T>G
NM_001369.2(DNAH5):c.1250C>G (p.Thr417Ser) rs149202369
NM_001369.2(DNAH5):c.12521A>G (p.Asp4174Gly) rs1554020311
NM_001369.2(DNAH5):c.12523G>A (p.Val4175Met) rs148123430
NM_001369.2(DNAH5):c.12586C>T (p.Gln4196Ter) rs886059965
NM_001369.2(DNAH5):c.12599dupA (p.Phe4201Valfs) rs1554020233
NM_001369.2(DNAH5):c.12614G>T (p.Gly4205Val) rs79185772
NM_001369.2(DNAH5):c.12617G>A (p.Trp4206Ter) rs372118787
NM_001369.2(DNAH5):c.12631G>A (p.Glu4211Lys) rs762673561
NM_001369.2(DNAH5):c.12694G>A (p.Asp4232Asn) rs564134623
NM_001369.2(DNAH5):c.12708T>C (p.Gly4236=) rs61744054
NM_001369.2(DNAH5):c.12709G>T (p.Val4237Phe) rs138045391
NM_001369.2(DNAH5):c.12734T>C (p.Met4245Thr) rs766597612
NM_001369.2(DNAH5):c.12771C>T (p.Asp4257=) rs200349959
NM_001369.2(DNAH5):c.12857G>A (p.Gly4286Glu) rs185104576
NM_001369.2(DNAH5):c.12878G>A (p.Ser4293Asn) rs140279971
NM_001369.2(DNAH5):c.128T>C (p.Ile43Thr)
NM_001369.2(DNAH5):c.12909+9A>G rs1554019790
NM_001369.2(DNAH5):c.12910-1G>C
NM_001369.2(DNAH5):c.12923A>G (p.Tyr4308Cys) rs115075057
NM_001369.2(DNAH5):c.13060delG (p.Ala4354Argfs)
NM_001369.2(DNAH5):c.13062G>A (p.Ala4354=) rs200924641
NM_001369.2(DNAH5):c.13071C>T (p.Ala4357=) rs10077457
NM_001369.2(DNAH5):c.13073G>A (p.Arg4358Gln) rs144949095
NM_001369.2(DNAH5):c.13126-2A>C rs863224503
NM_001369.2(DNAH5):c.13140G>T (p.Leu4380=) rs890199061
NM_001369.2(DNAH5):c.13155A>T (p.Pro4385=) rs202103048
NM_001369.2(DNAH5):c.13174T>C (p.Phe4392Leu) rs369714206
NM_001369.2(DNAH5):c.13175T>G (p.Phe4392Cys) rs145400611
NM_001369.2(DNAH5):c.13194_13197delCAGA (p.Asp4398Glufs) rs727502971
NM_001369.2(DNAH5):c.13227C>A (p.Ser4409Arg) rs139357559
NM_001369.2(DNAH5):c.13266C>G (p.Ile4422Met)
NM_001369.2(DNAH5):c.13286G>A (p.Arg4429Gln) rs61744047
NM_001369.2(DNAH5):c.13331G>A (p.Trp4444Ter) rs1060501467
NM_001369.2(DNAH5):c.13331G>T (p.Trp4444Leu)
NM_001369.2(DNAH5):c.13338+5G>A
NM_001369.2(DNAH5):c.13338delA (p.Ala4447Leufs) rs1554017211
NM_001369.2(DNAH5):c.13346G>A (p.Trp4449Ter)
NM_001369.2(DNAH5):c.13426C>T (p.Arg4476Ter) rs767716511
NM_001369.2(DNAH5):c.13437C>T (p.Cys4479=) rs376510352
NM_001369.2(DNAH5):c.13448C>T (p.Thr4483Met) rs141828476
NM_001369.2(DNAH5):c.13458dupT (p.Asn4487Terfs) rs775696136
NM_001369.2(DNAH5):c.13462C>A (p.Pro4488Thr) rs113425437
NM_001369.2(DNAH5):c.13467G>A (p.Gln4489=) rs140498500
NM_001369.2(DNAH5):c.13486C>T (p.Arg4496Ter) rs200901816
NM_001369.2(DNAH5):c.13502G>A (p.Arg4501Gln) rs781267941
NM_001369.2(DNAH5):c.1356G>A (p.Lys452=) rs144748846
NM_001369.2(DNAH5):c.13591G>A (p.Glu4531Lys)
NM_001369.2(DNAH5):c.13633T>C (p.Trp4545Arg) rs1161303371
NM_001369.2(DNAH5):c.13672A>G (p.Lys4558Glu) rs752010216
NM_001369.2(DNAH5):c.13689G>C (p.Leu4563Phe) rs374221053
NM_001369.2(DNAH5):c.13745A>G (p.Tyr4582Cys) rs749862482
NM_001369.2(DNAH5):c.13760A>G (p.Tyr4587Cys) rs1320036244
NM_001369.2(DNAH5):c.13775G>A (p.Arg4592Gln) rs367709427
NM_001369.2(DNAH5):c.13778C>T (p.Thr4593Met) rs142036266
NM_001369.2(DNAH5):c.13779G>A (p.Thr4593=) rs200555581
NM_001369.2(DNAH5):c.13843C>T (p.Arg4615Cys) rs771613197
NM_001369.2(DNAH5):c.13862G>A (p.Cys4621Tyr) rs1554012799
NM_001369.2(DNAH5):c.1395C>T (p.Ser465=) rs34580014
NM_001369.2(DNAH5):c.1432C>T (p.Arg478Ter) rs747900131
NM_001369.2(DNAH5):c.1435C>T (p.Arg479Cys) rs200494845
NM_001369.2(DNAH5):c.1436G>A (p.Arg479His) rs150601733
NM_001369.2(DNAH5):c.1476G>A (p.Thr492=) rs150994380
NM_001369.2(DNAH5):c.1501_1503delATTinsGTC (p.Ile501Val) rs1554101056
NM_001369.2(DNAH5):c.1502T>C (p.Ile501Thr)
NM_001369.2(DNAH5):c.1517dup (p.Asp506Glufs) rs1554101045
NM_001369.2(DNAH5):c.1584G>A (p.Gln528=) rs769824207
NM_001369.2(DNAH5):c.1585C>T (p.Arg529Trp) rs200452908
NM_001369.2(DNAH5):c.1611C>G (p.Tyr537Ter) rs367877988
NM_001369.2(DNAH5):c.1612G>A (p.Glu538Lys)
NM_001369.2(DNAH5):c.1631C>T (p.Thr544Ile) rs118026202
NM_001369.2(DNAH5):c.1638C>A (p.Asp546Glu) rs375037194
NM_001369.2(DNAH5):c.1647C>G (p.Asn549Lys) rs139160176
NM_001369.2(DNAH5):c.1658A>G (p.Lys553Arg) rs767525835
NM_001369.2(DNAH5):c.1714T>C (p.Leu572=) rs765545482
NM_001369.2(DNAH5):c.1715T>G (p.Leu572Trp) rs137878131
NM_001369.2(DNAH5):c.1730G>C (p.Arg577Thr) rs397515541
NM_001369.2(DNAH5):c.1731-5dup rs1489967874
NM_001369.2(DNAH5):c.1770A>G (p.Gln590=) rs775939948
NM_001369.2(DNAH5):c.1772T>G (p.Leu591Arg) rs35090077
NM_001369.2(DNAH5):c.1792G>A (p.Ala598Thr) rs863224706
NM_001369.2(DNAH5):c.1830G>A (p.Gln610=) rs549164618
NM_001369.2(DNAH5):c.1858C>A (p.Gln620Lys) rs34076967
NM_001369.2(DNAH5):c.193-2A>G
NM_001369.2(DNAH5):c.193-6T>G rs762313659
NM_001369.2(DNAH5):c.1958C>T (p.Thr653Met)
NM_001369.2(DNAH5):c.20G>A (p.Arg7Lys) rs139728564
NM_001369.2(DNAH5):c.2200C>G (p.Leu734Val)
NM_001369.2(DNAH5):c.2211C>T (p.Ser737=) rs878854455
NM_001369.2(DNAH5):c.2224C>T (p.Arg742Ter) rs776686983
NM_001369.2(DNAH5):c.2250_2259+674del
NM_001369.2(DNAH5):c.2253C>A (p.Asn751Lys) rs115004914
NM_001369.2(DNAH5):c.2260-1G>A
NM_001369.2(DNAH5):c.2261dupT (p.Met754Ilefs) rs672601333
NM_001369.2(DNAH5):c.2400G>A (p.Glu800=) rs199951976
NM_001369.2(DNAH5):c.2417C>T (p.Thr806Ile) rs766649400
NM_001369.2(DNAH5):c.2431+5G>A rs369244905
NM_001369.2(DNAH5):c.2443T>A (p.Leu815Met) rs149654950
NM_001369.2(DNAH5):c.2479C>A (p.Arg827Ser) rs760986984
NM_001369.2(DNAH5):c.2481C>T (p.Arg827=) rs777353326
NM_001369.2(DNAH5):c.2488G>A (p.Ala830Thr)
NM_001369.2(DNAH5):c.2504T>A (p.Met835Lys) rs1554092890
NM_001369.2(DNAH5):c.252T>G (p.Tyr84Ter) rs754982008
NM_001369.2(DNAH5):c.2533C>T (p.Gln845Ter) rs1060501458
NM_001369.2(DNAH5):c.2571G>A (p.Met857Ile) rs199667661
NM_001369.2(DNAH5):c.2578-10_2578-7delTTTT rs71600031
NM_001369.2(DNAH5):c.2578-6G>T rs1303708125
NM_001369.2(DNAH5):c.2578-7delT rs71600031
NM_001369.2(DNAH5):c.2578-8_2578-7delTT rs71600031
NM_001369.2(DNAH5):c.2578-9_2578-7delTTT rs71600031
NM_001369.2(DNAH5):c.257A>G (p.Asp86Gly) rs147441805
NM_001369.2(DNAH5):c.2683G>A (p.Glu895Lys) rs76229167
NM_001369.2(DNAH5):c.2708A>C (p.Asn903Thr) rs749503841
NM_001369.2(DNAH5):c.2710G>T (p.Glu904Ter) rs1554090927
NM_001369.2(DNAH5):c.2756_2758delAAG (p.Glu919del)
NM_001369.2(DNAH5):c.2772delC (p.Leu925Terfs) rs1554090622
NM_001369.2(DNAH5):c.278-?_438+?del
NM_001369.2(DNAH5):c.2861A>C (p.Glu954Ala) rs753696648
NM_001369.2(DNAH5):c.2944C>T (p.Arg982Cys) rs143673459
NM_001369.2(DNAH5):c.2984-2A>C
NM_001369.2(DNAH5):c.299G>C (p.Gly100Ala) rs144236383
NM_001369.2(DNAH5):c.3003C>A (p.Asn1001Lys)
NM_001369.2(DNAH5):c.300G>C (p.Gly100=) rs543407739
NM_001369.2(DNAH5):c.3013A>T (p.Asn1005Tyr) rs770975422
NM_001369.2(DNAH5):c.3016A>G (p.Ser1006Gly) rs16902886
NM_001369.2(DNAH5):c.3021G>T (p.Leu1007Phe) rs188638970
NM_001369.2(DNAH5):c.3064G>A (p.Val1022Ile) rs375218798
NM_001369.2(DNAH5):c.3084A>G (p.Glu1028=) rs766451124
NM_001369.2(DNAH5):c.3112G>A (p.Val1038Met) rs146828513
NM_001369.2(DNAH5):c.3179A>T (p.Lys1060Met) rs145672251
NM_001369.2(DNAH5):c.3202G>C (p.Ala1068Pro) rs200249508
NM_001369.2(DNAH5):c.3241A>G (p.Met1081Val) rs16902880
NM_001369.2(DNAH5):c.3291dupA (p.Pro1098Thrfs) rs762081081
NM_001369.2(DNAH5):c.3301G>A (p.Val1101Met) rs61747516
NM_001369.2(DNAH5):c.330A>T (p.Lys110Asn) rs138832246
NM_001369.2(DNAH5):c.3341_3342delAA (p.Lys1114Argfs) rs768881056
NM_001369.2(DNAH5):c.3363T>G (p.Ser1121=) rs58266192
NM_001369.2(DNAH5):c.3378_3379insTG (p.Ile1127Terfs)
NM_001369.2(DNAH5):c.3408A>G (p.Thr1136=) rs762124795
NM_001369.2(DNAH5):c.3415G>C (p.Asp1139His) rs1554085372
NM_001369.2(DNAH5):c.342C>T (p.Phe114=) rs145920072
NM_001369.2(DNAH5):c.3466delA (p.Ile1156Leufs) rs775866092
NM_001369.2(DNAH5):c.3471G>A (p.Lys1157=) rs865979045
NM_001369.2(DNAH5):c.3491C>T (p.Pro1164Leu) rs878854456
NM_001369.2(DNAH5):c.349G>A (p.Glu117Lys) rs116128702
NM_001369.2(DNAH5):c.349G>T (p.Glu117Ter) rs116128702
NM_001369.2(DNAH5):c.3514C>A (p.Gln1172Lys) rs141168110
NM_001369.2(DNAH5):c.3517A>C (p.Ile1173Leu) rs375686889
NM_001369.2(DNAH5):c.3534C>T (p.Asn1178=) rs151274810
NM_001369.2(DNAH5):c.3538G>A (p.Glu1180Lys)
NM_001369.2(DNAH5):c.3589_3590delCT (p.Leu1197Valfs)
NM_001369.2(DNAH5):c.3650T>C (p.Ile1217Thr) rs112124692
NM_001369.2(DNAH5):c.3656G>A (p.Arg1219His) rs73055857
NM_001369.2(DNAH5):c.3671A>G (p.Lys1224Arg)
NM_001369.2(DNAH5):c.3677G>A (p.Arg1226Gln)
NM_001369.2(DNAH5):c.367C>T (p.Leu123Phe) rs148017278
NM_001369.2(DNAH5):c.3734G>A (p.Arg1245His) rs77939839
NM_001369.2(DNAH5):c.3753T>C (p.Asp1251=) rs1060504237
NM_001369.2(DNAH5):c.3792G>C (p.Arg1264Ser) rs769589158
NM_001369.2(DNAH5):c.3821T>C (p.Val1274Ala)
NM_001369.2(DNAH5):c.3835-3delT rs35398031
NM_001369.2(DNAH5):c.3835-3dup rs35398031
NM_001369.2(DNAH5):c.3905delT (p.Leu1302Argfs) rs754698253
NM_001369.2(DNAH5):c.3943G>T (p.Glu1315Ter) rs753397685
NM_001369.2(DNAH5):c.3987A>G (p.Lys1329=) rs146191243
NM_001369.2(DNAH5):c.4053+1G>T rs1060501466
NM_001369.2(DNAH5):c.4072G>A (p.Gly1358Ser)
NM_001369.2(DNAH5):c.4113T>G (p.Phe1371Leu)
NM_001369.2(DNAH5):c.4133T>C (p.Ile1378Thr) rs536502106
NM_001369.2(DNAH5):c.4157delC (p.Thr1386Metfs) rs1554082872
NM_001369.2(DNAH5):c.4254G>A (p.Leu1418=) rs548183364
NM_001369.2(DNAH5):c.4258A>G (p.Asn1420Asp) rs201841311
NM_001369.2(DNAH5):c.4286A>G (p.Tyr1429Cys) rs141052175
NM_001369.2(DNAH5):c.4319A>C (p.Glu1440Ala) rs147322363
NM_001369.2(DNAH5):c.4332T>C (p.Asn1444=) rs1246376656
NM_001369.2(DNAH5):c.4338C>G (p.Leu1446=) rs377432140
NM_001369.2(DNAH5):c.4373G>A (p.Arg1458Gln) rs61747551
NM_001369.2(DNAH5):c.439-2A>G
NM_001369.2(DNAH5):c.4431C>T (p.Ser1477=) rs74451896
NM_001369.2(DNAH5):c.4480C>T (p.Arg1494Trp) rs535366955
NM_001369.2(DNAH5):c.4509C>T (p.Thr1503=) rs138157585
NM_001369.2(DNAH5):c.4510G>C (p.Gly1504Arg) rs143567667
NM_001369.2(DNAH5):c.4524T>G (p.Asp1508Glu)
NM_001369.2(DNAH5):c.4559T>C (p.Met1520Thr) rs916516633
NM_001369.2(DNAH5):c.4596+5A>C rs182677317
NM_001369.2(DNAH5):c.4605dupT (p.Ile1536Tyrfs) rs864622512
NM_001369.2(DNAH5):c.4702delC (p.Arg1568Valfs) rs1554081658
NM_001369.2(DNAH5):c.4796+1G>A rs989235687
NM_001369.2(DNAH5):c.4797-7A>G rs374917069
NM_001369.2(DNAH5):c.4807C>A (p.Pro1603Thr) rs369137751
NM_001369.2(DNAH5):c.4836G>A (p.Val1612=) rs34671383
NM_001369.2(DNAH5):c.4866C>T (p.Ile1622=) rs777697449
NM_001369.2(DNAH5):c.4877T>C (p.Met1626Thr) rs753163103
NM_001369.2(DNAH5):c.4881G>A (p.Thr1627=) rs751858022
NM_001369.2(DNAH5):c.4938G>A (p.Lys1646=) rs778517001
NM_001369.2(DNAH5):c.4961G>A (p.Arg1654Gln) rs150868941
NM_001369.2(DNAH5):c.4972A>G (p.Ile1658Val) rs535557021
NM_001369.2(DNAH5):c.5021G>T (p.Ser1674Ile) rs1024785789
NM_001369.2(DNAH5):c.5056G>A (p.Gly1686Arg) rs1385680717
NM_001369.2(DNAH5):c.5059C>T (p.Gln1687Ter)
NM_001369.2(DNAH5):c.506C>T (p.Ser169Leu) rs749078502
NM_001369.2(DNAH5):c.507G>A (p.Ser169=) rs146663590
NM_001369.2(DNAH5):c.5114+1G>C rs878854457
NM_001369.2(DNAH5):c.5115-4G>T rs141141086
NM_001369.2(DNAH5):c.5118C>G (p.Tyr1706Ter) rs1554074565
NM_001369.2(DNAH5):c.5146C>T (p.Arg1716Trp) rs368644722
NM_001369.2(DNAH5):c.5177T>C (p.Leu1726Pro) rs138890576
NM_001369.2(DNAH5):c.5184T>C (p.Ile1728=) rs757238778
NM_001369.2(DNAH5):c.5196G>T (p.Ala1732=) rs201484389
NM_001369.2(DNAH5):c.5198C>A (p.Ser1733Ter)
NM_001369.2(DNAH5):c.5219C>T (p.Ala1740Val) rs1554074458
NM_001369.2(DNAH5):c.5224T>C (p.Leu1742=) rs35963491
NM_001369.2(DNAH5):c.5266G>A (p.Glu1756Lys) rs116524991
NM_001369.2(DNAH5):c.5281C>G (p.Arg1761Gly) rs148891849
NM_001369.2(DNAH5):c.5281C>T (p.Arg1761Ter) rs148891849
NM_001369.2(DNAH5):c.5290T>C (p.Ser1764Pro) rs748763552
NM_001369.2(DNAH5):c.5392T>C (p.Ser1798Pro) rs1060501468
NM_001369.2(DNAH5):c.5413C>T (p.Arg1805Cys) rs142155986
NM_001369.2(DNAH5):c.5438A>G (p.Glu1813Gly) rs199910966
NM_001369.2(DNAH5):c.5476C>G (p.Pro1826Ala)
NM_001369.2(DNAH5):c.5482C>T (p.Gln1828Ter) rs1354919632
NM_001369.2(DNAH5):c.5503C>T (p.Gln1835Ter) rs761622153
NM_001369.2(DNAH5):c.5536C>G (p.Leu1846Val)
NM_001369.2(DNAH5):c.5557A>T (p.Lys1853Ter) rs748618094
NM_001369.2(DNAH5):c.5563dupA (p.Ile1855Asnfs) rs752925056
NM_001369.2(DNAH5):c.556C>A (p.Leu186Ile) rs1554104341
NM_001369.2(DNAH5):c.558C>T (p.Leu186=) rs145895917
NM_001369.2(DNAH5):c.559G>T (p.Glu187Ter) rs759059925
NM_001369.2(DNAH5):c.560A>T (p.Glu187Val) rs1214362304
NM_001369.2(DNAH5):c.5632C>G (p.Leu1878Val)
NM_001369.2(DNAH5):c.5642C>T (p.Thr1881Met)
NM_001369.2(DNAH5):c.5647C>T (p.Arg1883Ter) rs575017579
NM_001369.2(DNAH5):c.5658C>T (p.Tyr1886=) rs6880264
NM_001369.2(DNAH5):c.56C>T (p.Thr19Met) rs757712771
NM_001369.2(DNAH5):c.5707C>T (p.Leu1903=) rs7719896
NM_001369.2(DNAH5):c.5710-2A>G rs548521732
NM_001369.2(DNAH5):c.574G>A (p.Ala192Thr) rs140700961
NM_001369.2(DNAH5):c.5785G>C (p.Asp1929His) rs1554072085
NM_001369.2(DNAH5):c.57G>T (p.Thr19=) rs142969794
NM_001369.2(DNAH5):c.5849C>T (p.Thr1950Ile) rs1060501465
NM_001369.2(DNAH5):c.5881dup (p.Arg1961Lysfs) rs1554072027
NM_001369.2(DNAH5):c.5882+6G>A rs377640010
NM_001369.2(DNAH5):c.5923G>C (p.Gly1975Arg) rs752901859
NM_001369.2(DNAH5):c.5932C>G (p.Pro1978Ala) rs138222058
NM_001369.2(DNAH5):c.5944G>A (p.Ala1982Thr) rs150814892
NM_001369.2(DNAH5):c.5983C>T (p.Arg1995Ter) rs773711154
NM_001369.2(DNAH5):c.5992G>A (p.Gly1998Arg)
NM_001369.2(DNAH5):c.6014A>G (p.Asn2005Ser) rs1375968864
NM_001369.2(DNAH5):c.6037C>T (p.Arg2013Ter) rs1273352530
NM_001369.2(DNAH5):c.6039A>C (p.Arg2013=) rs112102932
NM_001369.2(DNAH5):c.6061+10A>G rs77957856
NM_001369.2(DNAH5):c.6062-4G>A rs143392650
NM_001369.2(DNAH5):c.6230T>C (p.Phe2077Ser) rs141196027
NM_001369.2(DNAH5):c.6249+4A>T rs1554067648
NM_001369.2(DNAH5):c.6249G>A (p.Met2083Ile) rs753614861
NM_001369.2(DNAH5):c.624C>T (p.Asn208=) rs139640247
NM_001369.2(DNAH5):c.6268C>T (p.Arg2090Trp)
NM_001369.2(DNAH5):c.6273_6274delGGinsA (p.Glu2092Asnfs) rs1060501457
NM_001369.2(DNAH5):c.6293delA (p.Lys2098Argfs) rs1060501461
NM_001369.2(DNAH5):c.6304C>T (p.Arg2102Cys) rs767019228
NM_001369.2(DNAH5):c.632C>T (p.Ser211Leu)
NM_001369.2(DNAH5):c.6335_6336insT (p.Gln2112Hisfs) rs779506456
NM_001369.2(DNAH5):c.633G>A (p.Ser211=) rs151075351
NM_001369.2(DNAH5):c.6343delA (p.Ile2115Terfs) rs1474945018
NM_001369.2(DNAH5):c.6407C>T (p.Thr2136Met) rs140690090
NM_001369.2(DNAH5):c.6409C>A (p.Leu2137Ile) rs181884470
NM_001369.2(DNAH5):c.6413A>G (p.Tyr2138Cys) rs769252635
NM_001369.2(DNAH5):c.6416A>G (p.Lys2139Arg) rs151336435
NM_001369.2(DNAH5):c.6444+4T>C rs377638408
NM_001369.2(DNAH5):c.6444+8A>G rs1348690
NM_001369.2(DNAH5):c.6444G>A (p.Gln2148=)
NM_001369.2(DNAH5):c.6508dupA (p.Arg2170Lysfs) rs878854458
NM_001369.2(DNAH5):c.6529G>C (p.Glu2177Gln) rs116069486
NM_001369.2(DNAH5):c.6544A>G (p.Met2182Val) rs778507942
NM_001369.2(DNAH5):c.6551T>C (p.Val2184Ala) rs200805455
NM_001369.2(DNAH5):c.6579+6A>G rs141389162
NM_001369.2(DNAH5):c.6580-10C>A rs563828042
NM_001369.2(DNAH5):c.661G>A (p.Val221Met) rs1085307485
NM_001369.2(DNAH5):c.6672A>G (p.Ala2224=) rs1060504236
NM_001369.2(DNAH5):c.6703T>G (p.Leu2235Val) rs115109673
NM_001369.2(DNAH5):c.6715C>T (p.Pro2239Ser) rs112360385
NM_001369.2(DNAH5):c.6731A>T (p.Lys2244Met) rs187023993
NM_001369.2(DNAH5):c.6748G>A (p.Glu2250Lys) rs201285946
NM_001369.2(DNAH5):c.6763C>T (p.Arg2255Ter) rs745918507
NM_001369.2(DNAH5):c.6764G>A (p.Arg2255Gln) rs1317585354
NM_001369.2(DNAH5):c.6813C>T (p.Cys2271=) rs373542336
NM_001369.2(DNAH5):c.6884C>G (p.Ala2295Gly) rs368441809
NM_001369.2(DNAH5):c.6885G>A (p.Ala2295=) rs762437869
NM_001369.2(DNAH5):c.6911G>A (p.Arg2304Gln)
NM_001369.2(DNAH5):c.6919G>A (p.Val2307Ile) rs74604638
NM_001369.2(DNAH5):c.6932_6935delACTG (p.Asp2311Glyfs) rs1554062097
NM_001369.2(DNAH5):c.6956C>T (p.Thr2319Met) rs144983881
NM_001369.2(DNAH5):c.6970A>G (p.Thr2324Ala) rs143074036
NM_001369.2(DNAH5):c.7034G>A (p.Trp2345Ter) rs755596256
NM_001369.2(DNAH5):c.7065T>C (p.Asp2355=) rs149045168
NM_001369.2(DNAH5):c.7151A>G (p.Asn2384Ser) rs777962194
NM_001369.2(DNAH5):c.7196G>A (p.Ser2399Asn) rs550329660
NM_001369.2(DNAH5):c.7204A>C (p.Ile2402Leu)
NM_001369.2(DNAH5):c.7212T>C (p.Asp2404=) rs876657454
NM_001369.2(DNAH5):c.7274G>A (p.Arg2425His) rs35900306
NM_001369.2(DNAH5):c.7385T>A (p.Leu2462His) rs1554059594
NM_001369.2(DNAH5):c.7408-4T>C rs1388754784
NM_001369.2(DNAH5):c.7458C>T (p.Phe2486=) rs1554058794
NM_001369.2(DNAH5):c.7475C>T (p.Ala2492Val) rs529080443
NM_001369.2(DNAH5):c.7476G>T (p.Ala2492=) rs778257130
NM_001369.2(DNAH5):c.7481C>A (p.Ala2494Glu) rs1428862297
NM_001369.2(DNAH5):c.7484C>T (p.Ala2495Val) rs768364281
NM_001369.2(DNAH5):c.7502G>C (p.Arg2501Pro) rs78853309
NM_001369.2(DNAH5):c.7579_7590delACCGCCTTCGAC (p.Thr2527_Asp2530del) rs1554058577
NM_001369.2(DNAH5):c.7620G>A (p.Thr2540=) rs541631905
NM_001369.2(DNAH5):c.7679G>A (p.Gly2560Asp) rs1554058022
NM_001369.2(DNAH5):c.7684A>T (p.Ile2562Phe) rs151287187
NM_001369.2(DNAH5):c.7688T>G (p.Leu2563Arg) rs187551830
NM_001369.2(DNAH5):c.7741A>G (p.Lys2581Glu) rs142302585
NM_001369.2(DNAH5):c.7752+10T>C rs149460805
NM_001369.2(DNAH5):c.7892C>T (p.Thr2631Met) rs375200875
NM_001369.2(DNAH5):c.7898_7901delAGAG (p.Glu2633Alafs) rs1443540935
NM_001369.2(DNAH5):c.7914dup (p.Arg2639Thrfs) rs749082955
NM_001369.2(DNAH5):c.7915C>T (p.Arg2639Ter) rs375053470
NM_001369.2(DNAH5):c.791_794delCAGA (p.Thr264Asnfs)
NM_001369.2(DNAH5):c.7943C>T (p.Ala2648Val) rs201939338
NM_001369.2(DNAH5):c.799-10G>T rs750556389
NM_001369.2(DNAH5):c.799-269_1072del
NM_001369.2(DNAH5):c.7994A>G (p.Asn2665Ser)
NM_001369.2(DNAH5):c.7998G>T (p.Glu2666Asp) rs148720124
NM_001369.2(DNAH5):c.8002G>A (p.Gly2668Arg) rs147236883
NM_001369.2(DNAH5):c.8010+3A>G
NM_001369.2(DNAH5):c.8018A>G (p.Asn2673Ser) rs200591493
NM_001369.2(DNAH5):c.8024_8025dupTA (p.Val2676Terfs) rs1060501459
NM_001369.2(DNAH5):c.8029C>T (p.Arg2677Ter) rs775946081
NM_001369.2(DNAH5):c.8030G>A (p.Arg2677Gln) rs886043448
NM_001369.2(DNAH5):c.8076G>A (p.Gly2692=) rs758418210
NM_001369.2(DNAH5):c.8137C>T (p.Arg2713Cys) rs111912673
NM_001369.2(DNAH5):c.8147T>C (p.Ile2716Thr) rs746501395
NM_001369.2(DNAH5):c.8170T>A (p.Phe2724Ile)
NM_001369.2(DNAH5):c.8236G>T (p.Val2746Leu) rs773643407
NM_001369.2(DNAH5):c.8273A>C (p.Glu2758Ala) rs527914224
NM_001369.2(DNAH5):c.8296T>C (p.Leu2766=) rs200554369
NM_001369.2(DNAH5):c.8312G>A (p.Arg2771His) rs199643592
NM_001369.2(DNAH5):c.8314C>T (p.Arg2772Ter) rs781469274
NM_001369.2(DNAH5):c.8321_8322insC (p.Trp2774Cysfs) rs1554050517
NM_001369.2(DNAH5):c.832delG (p.Ala278Argfs) rs727502977
NM_001369.2(DNAH5):c.8387A>G (p.Asp2796Gly) rs727502974
NM_001369.2(DNAH5):c.8398G>A (p.Val2800Ile) rs770453841
NM_001369.2(DNAH5):c.8404C>T (p.Gln2802Ter) rs1193586811
NM_001369.2(DNAH5):c.841G>A (p.Val281Ile) rs548585661
NM_001369.2(DNAH5):c.8440_8447delGAACCAAA (p.Glu2814Terfs) rs755136231
NM_001369.2(DNAH5):c.8449G>T (p.Asp2817Tyr)
NM_001369.2(DNAH5):c.8465G>A (p.Trp2822Ter) rs1060501455
NM_001369.2(DNAH5):c.8498G>A (p.Arg2833His) rs753130398
NM_001369.2(DNAH5):c.8512A>C (p.Ser2838Arg) rs763198301
NM_001369.2(DNAH5):c.8517T>A (p.Asp2839Glu)
NM_001369.2(DNAH5):c.8528T>C (p.Phe2843Ser) rs77377082
NM_001369.2(DNAH5):c.8575A>G (p.Lys2859Glu) rs776408335
NM_001369.2(DNAH5):c.8606_8607delCA (p.Thr2869Ilefs) rs1554049087
NM_001369.2(DNAH5):c.8642C>G (p.Ala2881Gly) rs727502973
NM_001369.2(DNAH5):c.8648-4A>G rs373518709
NM_001369.2(DNAH5):c.8685A>G (p.Lys2895=) rs553405333
NM_001369.2(DNAH5):c.8748C>T (p.Leu2916=) rs556119081
NM_001369.2(DNAH5):c.8757G>C (p.Glu2919Asp) rs115776799
NM_001369.2(DNAH5):c.8769C>T (p.Gly2923=) rs546765121
NM_001369.2(DNAH5):c.8777T>C (p.Met2926Thr)
NM_001369.2(DNAH5):c.8805G>C (p.Met2935Ile) rs77874614
NM_001369.2(DNAH5):c.8821-1G>C rs1060501454
NM_001369.2(DNAH5):c.8828G>A (p.Arg2943His) rs184758570
NM_001369.2(DNAH5):c.8845C>G (p.Gln2949Glu) rs147688221
NM_001369.2(DNAH5):c.8862G>T (p.Leu2954=) rs145381989
NM_001369.2(DNAH5):c.8864delT (p.Val2955Alafs)
NM_001369.2(DNAH5):c.8865C>T (p.Val2955=) rs564462253
NM_001369.2(DNAH5):c.8898G>A (p.Thr2966=) rs111995400
NM_001369.2(DNAH5):c.88C>A (p.Arg30=) rs114220185
NM_001369.2(DNAH5):c.88C>T (p.Arg30Trp) rs114220185
NM_001369.2(DNAH5):c.8925C>T (p.Tyr2975=) rs755490391
NM_001369.2(DNAH5):c.8940C>T (p.Ile2980=) rs144001451
NM_001369.2(DNAH5):c.8948C>T (p.Thr2983Met) rs750809719
NM_001369.2(DNAH5):c.894C>G (p.Asn298Lys) rs116995413
NM_001369.2(DNAH5):c.8956T>C (p.Tyr2986His) rs369931315
NM_001369.2(DNAH5):c.8998C>T (p.Arg3000Ter) rs769054713
NM_001369.2(DNAH5):c.8999G>A (p.Arg3000Gln) rs137949961
NM_001369.2(DNAH5):c.9034A>T (p.Ile3012Phe)
NM_001369.2(DNAH5):c.9125G>A (p.Arg3042Gln)
NM_001369.2(DNAH5):c.9150C>T (p.Ser3050=) rs77477793
NM_001369.2(DNAH5):c.9218A>G (p.Tyr3073Cys) rs138505566
NM_001369.2(DNAH5):c.9230G>A (p.Arg3077Gln) rs113742238
NM_001369.2(DNAH5):c.9230G>T (p.Arg3077Leu) rs113742238
NM_001369.2(DNAH5):c.9235C>T (p.Arg3079Ter)
NM_001369.2(DNAH5):c.9236G>A (p.Arg3079Gln) rs752552477
NM_001369.2(DNAH5):c.9244C>A (p.Leu3082Ile) rs147372600
NM_001369.2(DNAH5):c.9287G>A (p.Arg3096Gln) rs1388732051
NM_001369.2(DNAH5):c.9355A>G (p.Lys3119Glu) rs76690956
NM_001369.2(DNAH5):c.9365delT (p.Leu3122Terfs) rs1060501460
NM_001369.2(DNAH5):c.9374-2A>T
NM_001369.2(DNAH5):c.9410G>A (p.Cys3137Tyr)
NM_001369.2(DNAH5):c.9461A>C (p.Asp3154Ala) rs149187750
NM_001369.2(DNAH5):c.9502C>T (p.Arg3168Ter) rs863224504
NM_001369.2(DNAH5):c.9522G>A (p.Thr3174=) rs35233147
NM_001369.2(DNAH5):c.9589C>T (p.Arg3197Trp)
NM_001369.2(DNAH5):c.9590G>A (p.Arg3197Gln) rs573476401
NM_001369.2(DNAH5):c.9620delT (p.Leu3207Trpfs)
NM_001369.2(DNAH5):c.962C>T (p.Ser321Leu) rs201077964
NM_001369.2(DNAH5):c.9655G>A (p.Ala3219Thr) rs1554040804
NM_001369.2(DNAH5):c.9677C>T (p.Ala3226Val) rs192262838
NM_001369.2(DNAH5):c.9720+5G>A rs763440781
NM_001369.2(DNAH5):c.9721-8delT rs560450857
NM_001369.2(DNAH5):c.975+6C>T rs151000177
NM_001369.2(DNAH5):c.9823A>G (p.Lys3275Glu)
NM_001369.2(DNAH5):c.9891A>G (p.Ala3297=) rs863224387
NM_001369.2(DNAH5):c.9897+1G>C
NM_001369.2(DNAH5):c.9911C>T (p.Ser3304Leu) rs139821753
NM_001369.2(DNAH5):c.9941G>A (p.Arg3314His) rs143858741
NM_001369.2(DNAH5):c.9967A>G (p.Met3323Val) rs1554039465
NM_001369.2(DNAH5):c.997C>T (p.Arg333Ter)
NM_001369.2(DNAH5):c.9986T>C (p.Leu3329Pro) rs878854459

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