NM_001369.3(DNAH5):c.1121T>C (p.Ile374Thr)
|
rs147499872
|
0.00059
|
NM_001369.3(DNAH5):c.2431+5G>A
|
rs369244905
|
0.00026
|
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs)
|
rs397515540
|
0.00021
|
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
|
0.00008
|
NM_001369.3(DNAH5):c.10616G>A (p.Arg3539His)
|
rs769458738
|
0.00006
|
NM_001369.3(DNAH5):c.1089+1G>A
|
rs574586008
|
0.00006
|
NM_001369.3(DNAH5):c.13486C>T (p.Arg4496Ter)
|
rs200901816
|
0.00006
|
NM_001369.3(DNAH5):c.6249G>A (p.Met2083Ile)
|
rs753614861
|
0.00006
|
NM_001369.3(DNAH5):c.10384C>T (p.Gln3462Ter)
|
rs571919972
|
0.00004
|
NM_001369.3(DNAH5):c.10615C>T (p.Arg3539Cys)
|
rs1304504006
|
0.00004
|
NM_001369.3(DNAH5):c.8404C>T (p.Gln2802Ter)
|
rs1193586811
|
0.00004
|
NM_001369.3(DNAH5):c.3905del (p.Leu1302fs)
|
rs754698253
|
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.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.8642C>G (p.Ala2881Gly)
|
rs727502973
|
0.00002
|
NM_001369.3(DNAH5):c.10226G>C (p.Trp3409Ser)
|
rs755407407
|
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.11653C>T (p.Arg3885Ter)
|
rs756032160
|
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.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.13774C>T (p.Arg4592Ter)
|
rs758112779
|
0.00001
|
NM_001369.3(DNAH5):c.1730G>C (p.Arg577Thr)
|
rs397515541
|
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.277G>A (p.Gly93Arg)
|
rs1428534050
|
0.00001
|
NM_001369.3(DNAH5):c.3139G>A (p.Gly1047Arg)
|
rs751785066
|
0.00001
|
NM_001369.3(DNAH5):c.3403del (p.Ile1135fs)
|
rs1199019362
|
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.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.5114+1G>C
|
rs878854457
|
0.00001
|
NM_001369.3(DNAH5):c.5177T>C (p.Leu1726Pro)
|
rs138890576
|
0.00001
|
NM_001369.3(DNAH5):c.5503C>T (p.Gln1835Ter)
|
rs761622153
|
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.5983C>T (p.Arg1995Ter)
|
rs773711154
|
0.00001
|
NM_001369.3(DNAH5):c.5992G>A (p.Gly1998Arg)
|
rs1298790222
|
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.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.8827C>T (p.Arg2943Cys)
|
rs758324905
|
0.00001
|
NM_001369.3(DNAH5):c.8998C>T (p.Arg3000Ter)
|
rs769054713
|
0.00001
|
NM_001369.3(DNAH5):c.9346C>T (p.Arg3116Ter)
|
rs1264701182
|
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.958_959dup (p.Lys322fs)
|
rs752110126
|
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.9720+5G>A
|
rs763440781
|
0.00001
|
NM_001369.3(DNAH5):c.9897+1G>C
|
rs914675446
|
0.00001
|
GRCh37/hg19 5p15.2(chr5:13844711-13845454)
|
|
|
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.13830078_13842859del
|
|
|
NC_000005.10:g.13864487_13874687del
|
|
|
NC_000005.10:g.13886130del
|
|
|
NC_000005.9:g.(?_13716586)_(13721364_?)del
|
|
|
NC_000005.9:g.(?_13751177)_(13754457_?)del
|
|
|
NC_000005.9:g.(?_13780928)_(13781078_?)del
|
|
|
NC_000005.9:g.(?_13809143)_(13810379_?)del
|
|
|
NC_000005.9:g.(?_13817647)_(13820618_?)del
|
|
|
NC_000005.9:g.(?_13823362)_(13944557_?)del
|
|
|
NC_000005.9:g.(?_13824302)_(13830890_?)del
|
|
|
NC_000005.9:g.(?_13844936)_(13845112_?)del
|
|
|
NC_000005.9:g.(?_13894749)_(13917375_?)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_001369.2(DNAH5):c.6273_6274delinsA (p.Glu2092fs)
|
rs1060501457
|
|
NM_001369.2(DNAH5):c.9609_9612delGAAT
|
rs1580143916
|
|
NM_001369.3(DNAH5):c.10051C>T (p.Gln3351Ter)
|
rs770720791
|
|
NM_001369.3(DNAH5):c.10059del (p.Ser3353_Leu3354insTer)
|
|
|
NM_001369.3(DNAH5):c.10080del (p.Asn3361fs)
|
|
|
NM_001369.3(DNAH5):c.10113dup (p.Asp3372fs)
|
|
|
NM_001369.3(DNAH5):c.10138G>T (p.Glu3380Ter)
|
|
|
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)
|
|
|
NM_001369.3(DNAH5):c.10254_10255insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGCTTCCTTCTTTTCT (p.Ser3418_Ile3419insPhePhePhePhePhePheXaaXaaXaaXaaThrHisArgTrpGluLeuAsnAsnGluIleThrTrpThrGlnGluGlyGluTyrHisThrLeuGlyThrValAlaSerPhePheSer)
|
|
|
NM_001369.3(DNAH5):c.10280del (p.Lys3427fs)
|
rs2126745441
|
|
NM_001369.3(DNAH5):c.10324C>T (p.Gln3442Ter)
|
rs2126728109
|
|
NM_001369.3(DNAH5):c.10348G>T (p.Glu3450Ter)
|
rs758739748
|
|
NM_001369.3(DNAH5):c.10377del (p.Asp3459fs)
|
rs2126727754
|
|
NM_001369.3(DNAH5):c.10399C>T (p.Gln3467Ter)
|
|
|
NM_001369.3(DNAH5):c.10399_10400del (p.Gln3467fs)
|
|
|
NM_001369.3(DNAH5):c.10452_10464del (p.His3484fs)
|
rs1580072662
|
|
NM_001369.3(DNAH5):c.1047T>A (p.Tyr349Ter)
|
|
|
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.10555G>C (p.Gly3519Arg)
|
rs79967166
|
|
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)
|
|
|
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)
|
|
|
NM_001369.3(DNAH5):c.10900A>T (p.Arg3634Ter)
|
|
|
NM_001369.3(DNAH5):c.10930G>T (p.Gly3644Ter)
|
rs1750339039
|
|
NM_001369.3(DNAH5):c.10952del (p.Asp3651fs)
|
|
|
NM_001369.3(DNAH5):c.10963G>T (p.Glu3655Ter)
|
|
|
NM_001369.3(DNAH5):c.10996A>T (p.Arg3666Ter)
|
|
|
NM_001369.3(DNAH5):c.11026A>T (p.Lys3676Ter)
|
rs1750322897
|
|
NM_001369.3(DNAH5):c.11028+1del
|
|
|
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)
|
|
|
NM_001369.3(DNAH5):c.11127_11128del (p.Arg3710fs)
|
rs768492048
|
|
NM_001369.3(DNAH5):c.11389C>T (p.Gln3797Ter)
|
|
|
NM_001369.3(DNAH5):c.11416_11417del (p.Glu3806fs)
|
rs2126619946
|
|
NM_001369.3(DNAH5):c.1141_1147delinsACAGAGATGTGATCTTCTCAGAGGTATTATAGTAATGAGAGATACT (p.Tyr381_Ile383delinsThrGluMetTer)
|
|
|
NM_001369.3(DNAH5):c.11421del (p.Gln3808fs)
|
rs2126619895
|
|
NM_001369.3(DNAH5):c.11425dup (p.Ile3809fs)
|
|
|
NM_001369.3(DNAH5):c.1144_1145insT (p.Ser382fs)
|
|
|
NM_001369.3(DNAH5):c.11459del (p.Ala3820fs)
|
|
|
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)
|
|
|
NM_001369.3(DNAH5):c.11611_11612del (p.Ile3871fs)
|
|
|
NM_001369.3(DNAH5):c.11638del (p.Tyr3880fs)
|
|
|
NM_001369.3(DNAH5):c.11658_11668del (p.Leu3887fs)
|
rs2126607061
|
|
NM_001369.3(DNAH5):c.11676_11680dup (p.Leu3894fs)
|
|
|
NM_001369.3(DNAH5):c.1167_1168insGTGA (p.Ser390fs)
|
|
|
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)
|
|
|
NM_001369.3(DNAH5):c.11820_11821insTTAT (p.Ile3941fs)
|
|
|
NM_001369.3(DNAH5):c.11840del (p.Val3947fs)
|
|
|
NM_001369.3(DNAH5):c.11853del (p.Lys3951fs)
|
rs1579942226
|
|
NM_001369.3(DNAH5):c.11857dup (p.Arg3953fs)
|
|
|
NM_001369.3(DNAH5):c.11860_11870del (p.Gln3954fs)
|
|
|
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)
|
|
|
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)
|
|
|
NM_001369.3(DNAH5):c.12009G>A (p.Trp4003Ter)
|
rs2126564103
|
|
NM_001369.3(DNAH5):c.12031dup (p.Gln4011fs)
|
|
|
NM_001369.3(DNAH5):c.12109G>T (p.Glu4037Ter)
|
|
|
NM_001369.3(DNAH5):c.12198_12203delinsCAAAAAAA (p.Leu4066fs)
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NM_001369.3(DNAH5):c.12205G>T (p.Glu4069Ter)
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NM_001369.3(DNAH5):c.12212_12213insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAATAGAAACCCG (p.Arg4071_Tyr4072insProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerGlyXaaXaaXaaLysLysLysLysLysLysLysLysIleGluThrArg)
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NM_001369.3(DNAH5):c.12220del (p.Ser4074fs)
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NM_001369.3(DNAH5):c.12224del (p.Met4075fs)
|
rs1744987309
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NM_001369.3(DNAH5):c.12238G>T (p.Glu4080Ter)
|
rs142761474
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NM_001369.3(DNAH5):c.12262C>T (p.Gln4088Ter)
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NM_001369.3(DNAH5):c.12287G>A (p.Trp4096Ter)
|
rs1744699899
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NM_001369.3(DNAH5):c.12295del (p.Leu4099fs)
|
rs1285287334
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NM_001369.3(DNAH5):c.12391dup (p.Thr4131fs)
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|
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NM_001369.3(DNAH5):c.12397G>T (p.Glu4133Ter)
|
rs376372961
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NM_001369.3(DNAH5):c.12409C>T (p.Gln4137Ter)
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NM_001369.3(DNAH5):c.12493T>C (p.Tyr4165His)
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NM_001369.3(DNAH5):c.12495T>A (p.Tyr4165Ter)
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rs373536906
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NM_001369.3(DNAH5):c.12495T>G (p.Tyr4165Ter)
|
rs373536906
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NM_001369.3(DNAH5):c.12500-1G>A
|
rs1744470051
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NM_001369.3(DNAH5):c.12510del (p.Asp4171fs)
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NM_001369.3(DNAH5):c.1255del (p.Ser419fs)
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NM_001369.3(DNAH5):c.12586C>T (p.Gln4196Ter)
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rs886059965
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NM_001369.3(DNAH5):c.12599dup (p.Phe4201fs)
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rs1554020233
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NM_001369.3(DNAH5):c.12614G>T (p.Gly4205Val)
|
rs79185772
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NM_001369.3(DNAH5):c.12630C>A (p.Tyr4210Ter)
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NM_001369.3(DNAH5):c.12631G>T (p.Glu4211Ter)
|
rs762673561
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NM_001369.3(DNAH5):c.12664C>T (p.Gln4222Ter)
|
rs2126508639
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NM_001369.3(DNAH5):c.12673C>T (p.Gln4225Ter)
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NM_001369.3(DNAH5):c.12716G>A (p.Trp4239Ter)
|
rs1744320103
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NM_001369.3(DNAH5):c.12762_12763del (p.Arg4254fs)
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rs1579881985
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NM_001369.3(DNAH5):c.12765del (p.Thr4256fs)
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NM_001369.3(DNAH5):c.12778_12780del (p.Asp4260del)
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NM_001369.3(DNAH5):c.12794del (p.Asn4265fs)
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NM_001369.3(DNAH5):c.12813G>A (p.Trp4271Ter)
|
rs763259925
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NM_001369.3(DNAH5):c.12850dup (p.Tyr4284fs)
|
rs1744302993
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NM_001369.3(DNAH5):c.12858_12863delinsGTAAAAT (p.Tyr4287_Asn4288delinsTer)
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NM_001369.3(DNAH5):c.12907C>T (p.Gln4303Ter)
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rs371030180
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NM_001369.3(DNAH5):c.12910-1G>C
|
rs1561097225
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NM_001369.3(DNAH5):c.12973C>T (p.Gln4325Ter)
|
rs1273109738
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NM_001369.3(DNAH5):c.13018C>T (p.Gln4340Ter)
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NM_001369.3(DNAH5):c.13060del (p.Ala4354fs)
|
rs1370489117
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NM_001369.3(DNAH5):c.13126-2A>C
|
rs863224503
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NM_001369.3(DNAH5):c.13159C>T (p.Gln4387Ter)
|
rs1195383216
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NM_001369.3(DNAH5):c.13194_13197del (p.Asp4398fs)
|
rs727502971
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NM_001369.3(DNAH5):c.1320+2T>C
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NM_001369.3(DNAH5):c.1326C>G (p.Tyr442Ter)
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rs1291311803
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NM_001369.3(DNAH5):c.13285C>T (p.Arg4429Ter)
|
rs1743041017
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NM_001369.3(DNAH5):c.13300dup (p.Cys4434fs)
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NM_001369.3(DNAH5):c.13309del (p.Asp4437fs)
|
rs1743038020
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NM_001369.3(DNAH5):c.13331G>A (p.Trp4444Ter)
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rs1060501467
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NM_001369.3(DNAH5):c.13332G>A (p.Trp4444Ter)
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NM_001369.3(DNAH5):c.13338+5G>C
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NM_001369.3(DNAH5):c.13338del (p.Ala4447fs)
|
rs1554017211
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NM_001369.3(DNAH5):c.13346G>A (p.Trp4449Ter)
|
rs1561073938
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NM_001369.3(DNAH5):c.13412G>A (p.Trp4471Ter)
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NM_001369.3(DNAH5):c.13413G>A (p.Trp4471Ter)
|
rs1742093744
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NM_001369.3(DNAH5):c.1342A>T (p.Lys448Ter)
|
rs1227276816
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NM_001369.3(DNAH5):c.13432_13435del (p.His4478fs)
|
rs760742856
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NM_001369.3(DNAH5):c.13443G>A (p.Trp4481Ter)
|
rs1742088018
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NM_001369.3(DNAH5):c.13445del (p.Met4482fs)
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NM_001369.3(DNAH5):c.13457_13475del (p.Phe4485_Phe4486insTer)
|
rs2126409121
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NM_001369.3(DNAH5):c.13458del (p.Phe4486fs)
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NM_001369.3(DNAH5):c.13458dup (p.Asn4487Ter)
|
rs775696136
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NM_001369.3(DNAH5):c.13465C>T (p.Gln4489Ter)
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NM_001369.3(DNAH5):c.1351_1355del (p.Gln451fs)
|
rs2151981160
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NM_001369.3(DNAH5):c.13544dup (p.Asn4515fs)
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rs2126405266
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NM_001369.3(DNAH5):c.1355del (p.Lys452fs)
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NM_001369.3(DNAH5):c.13602T>A (p.Tyr4534Ter)
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NM_001369.3(DNAH5):c.13633T>C (p.Trp4545Arg)
|
rs1161303371
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NM_001369.3(DNAH5):c.13656_13659del (p.Ile4553fs)
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NM_001369.3(DNAH5):c.13729C>T (p.Arg4577Ter)
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|
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NM_001369.3(DNAH5):c.1373del (p.Asn458fs)
|
rs1776339162
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NM_001369.3(DNAH5):c.13746C>A (p.Tyr4582Ter)
|
rs369094478
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NM_001369.3(DNAH5):c.1380del (p.Lys460fs)
|
rs2151981122
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NM_001369.3(DNAH5):c.1427_1428del (p.Phe476fs)
|
rs774493427
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NM_001369.3(DNAH5):c.1450del (p.Ile483_Ile484insTer)
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|
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NM_001369.3(DNAH5):c.1517dup (p.Asp506fs)
|
rs1554101045
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NM_001369.3(DNAH5):c.1534C>T (p.Gln512Ter)
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|
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NM_001369.3(DNAH5):c.1562dup (p.Glu522fs)
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|
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NM_001369.3(DNAH5):c.1569C>G (p.Tyr523Ter)
|
rs2151977768
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NM_001369.3(DNAH5):c.1611C>G (p.Tyr537Ter)
|
rs367877988
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NM_001369.3(DNAH5):c.1627C>T (p.Gln543Ter)
|
rs2151977668
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NM_001369.3(DNAH5):c.1639del (p.Leu547fs)
|
rs1580853061
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NM_001369.3(DNAH5):c.1717A>T (p.Lys573Ter)
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|
|
NM_001369.3(DNAH5):c.1722del (p.Lys574fs)
|
rs1164037667
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NM_001369.3(DNAH5):c.1731-1G>C
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|
|
NM_001369.3(DNAH5):c.1852C>T (p.Arg618Ter)
|
rs778780449
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NM_001369.3(DNAH5):c.1915C>T (p.Gln639Ter)
|
rs1580809557
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NM_001369.3(DNAH5):c.1924C>T (p.Gln642Ter)
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|
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NM_001369.3(DNAH5):c.1933C>T (p.Gln645Ter)
|
rs2151962965
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NM_001369.3(DNAH5):c.1988dup (p.Tyr663Ter)
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|
|
NM_001369.3(DNAH5):c.1989C>A (p.Tyr663Ter)
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|
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NM_001369.3(DNAH5):c.2050C>T (p.Gln684Ter)
|
rs1774569874
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NM_001369.3(DNAH5):c.2053-18_2064del
|
rs1774445982
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NM_001369.3(DNAH5):c.2090T>A (p.Leu697Ter)
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|
|
NM_001369.3(DNAH5):c.2100_2106del (p.Pro701fs)
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|
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NM_001369.3(DNAH5):c.2113G>T (p.Glu705Ter)
|
rs780489890
|
|
NM_001369.3(DNAH5):c.2117_2136dup (p.Gln713delinsCysLeuTer)
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|
|
NM_001369.3(DNAH5):c.2137C>T (p.Gln713Ter)
|
|
|
NM_001369.3(DNAH5):c.2154del (p.Phe718fs)
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|
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NM_001369.3(DNAH5):c.2250_2259+674del
|
rs1561532139
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NM_001369.3(DNAH5):c.2261dup (p.Met754fs)
|
rs672601333
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NM_001369.3(DNAH5):c.2262dup (p.Met755fs)
|
rs2151953686
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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)
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|
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NM_001369.3(DNAH5):c.2440G>T (p.Glu814Ter)
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|
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NM_001369.3(DNAH5):c.2504T>A (p.Met835Lys)
|
rs1554092890
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|
NM_001369.3(DNAH5):c.2599C>T (p.Gln867Ter)
|
|
|
NM_001369.3(DNAH5):c.2660T>A (p.Leu887Ter)
|
rs2151943036
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|
NM_001369.3(DNAH5):c.2674del (p.Val892fs)
|
|
|
NM_001369.3(DNAH5):c.2710G>T (p.Glu904Ter)
|
rs1554090927
|
|
NM_001369.3(DNAH5):c.2714_2717dup (p.Ser906delinsArgTer)
|
|
|
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)
|
|
|
NM_001369.3(DNAH5):c.2834del (p.Lys945fs)
|
rs2151941712
|
|
NM_001369.3(DNAH5):c.2839_2842del (p.Glu947fs)
|
rs1772220687
|
|
NM_001369.3(DNAH5):c.2844_2845del (p.Glu949fs)
|
|
|
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.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)
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|
|
NM_001369.3(DNAH5):c.3262+1del
|
|
|
NM_001369.3(DNAH5):c.3291dup (p.Pro1098fs)
|
rs762081081
|
|
NM_001369.3(DNAH5):c.3297del (p.Val1101fs)
|
|
|
NM_001369.3(DNAH5):c.3304C>T (p.Gln1102Ter)
|
|
|
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.3443G>A (p.Trp1148Ter)
|
rs1007367534
|
|
NM_001369.3(DNAH5):c.3444G>A (p.Trp1148Ter)
|
|
|
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)
|
|
|
NM_001369.3(DNAH5):c.3504del (p.Glu1168fs)
|
|
|
NM_001369.3(DNAH5):c.3514C>T (p.Gln1172Ter)
|
|
|
NM_001369.3(DNAH5):c.3549_3550del (p.Asn1184fs)
|
|
|
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)
|
|
|
NM_001369.3(DNAH5):c.3912T>G (p.Tyr1304Ter)
|
rs1769515132
|
|
NM_001369.3(DNAH5):c.3917G>A (p.Trp1306Ter)
|
|
|
NM_001369.3(DNAH5):c.3918G>A (p.Trp1306Ter)
|
|
|
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.4053+1G>A
|
rs1060501466
|
|
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)
|
|
|
NM_001369.3(DNAH5):c.4113del (p.Gln1372fs)
|
rs1769225531
|
|
NM_001369.3(DNAH5):c.4117-2A>G
|
rs1467301649
|
|
NM_001369.3(DNAH5):c.4157del (p.Thr1386fs)
|
rs1554082872
|
|
NM_001369.3(DNAH5):c.4201C>T (p.Gln1401Ter)
|
rs1341570153
|
|
NM_001369.3(DNAH5):c.4257C>A (p.Tyr1419Ter)
|
|
|
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)
|
|
|
NM_001369.3(DNAH5):c.4290T>A (p.Tyr1430Ter)
|
|
|
NM_001369.3(DNAH5):c.4355+1del
|
|
|
NM_001369.3(DNAH5):c.4375dup (p.Ala1459fs)
|
rs2151908870
|
|
NM_001369.3(DNAH5):c.4377del (p.Ala1459_Leu1460insTer)
|
|
|
NM_001369.3(DNAH5):c.4400dup (p.Leu1467fs)
|
rs1252973555
|
|
NM_001369.3(DNAH5):c.4464del (p.Ser1488fs)
|
|
|
NM_001369.3(DNAH5):c.4488G>A (p.Trp1496Ter)
|
|
|
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)
|
|
|
NM_001369.3(DNAH5):c.4541_4559del (p.Phe1514fs)
|
|
|
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)
|
|
|
NM_001369.3(DNAH5):c.4619_4622del (p.Lys1540fs)
|
rs2151905927
|
|
NM_001369.3(DNAH5):c.4625_4628del (p.Arg1542fs)
|
|
|
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)
|
|
|
NM_001369.3(DNAH5):c.4664G>A (p.Trp1555Ter)
|
|
|
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.5037T>A (p.Cys1679Ter)
|
rs1580578744
|
|
NM_001369.3(DNAH5):c.5059C>T (p.Gln1687Ter)
|
rs1188507108
|
|
NM_001369.3(DNAH5):c.506C>A (p.Ser169Ter)
|
|
|
NM_001369.3(DNAH5):c.5114+1G>A
|
|
|
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)
|
|
|
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)
|
|
|
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)
|
|
|
NM_001369.3(DNAH5):c.5221del (p.His1741fs)
|
|
|
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)
|
|
|
NM_001369.3(DNAH5):c.5344del (p.Glu1782fs)
|
rs2151861909
|
|
NM_001369.3(DNAH5):c.5389C>T (p.Gln1797Ter)
|
|
|
NM_001369.3(DNAH5):c.5399T>A (p.Leu1800Ter)
|
|
|
NM_001369.3(DNAH5):c.5424del (p.Ala1809fs)
|
|
|
NM_001369.3(DNAH5):c.5434del (p.Gln1812fs)
|
rs2151861729
|
|
NM_001369.3(DNAH5):c.5482C>T (p.Gln1828Ter)
|
rs1354919632
|
|
NM_001369.3(DNAH5):c.552del (p.Glu185fs)
|
|
|
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)
|
|
|
NM_001369.3(DNAH5):c.5658C>G (p.Tyr1886Ter)
|
rs6880264
|
|
NM_001369.3(DNAH5):c.5659G>T (p.Glu1887Ter)
|
|
|
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)
|
|
|
NM_001369.3(DNAH5):c.5827C>T (p.Gln1943Ter)
|
rs2151857133
|
|
NM_001369.3(DNAH5):c.5866dup (p.Thr1956fs)
|
|
|
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.5883-2A>G
|
rs1580465796
|
|
NM_001369.3(DNAH5):c.5890_5894dup (p.Leu1966fs)
|
rs1436141222
|
|
NM_001369.3(DNAH5):c.5902C>T (p.Gln1968Ter)
|
|
|
NM_001369.3(DNAH5):c.5926G>T (p.Gly1976Ter)
|
rs751690064
|
|
NM_001369.3(DNAH5):c.5927del (p.Gly1976fs)
|
|
|
NM_001369.3(DNAH5):c.5928del (p.Ala1977fs)
|
|
|
NM_001369.3(DNAH5):c.5953_5954del (p.Gly1985fs)
|
rs2151838095
|
|
NM_001369.3(DNAH5):c.5987_5998del (p.Cys1996_Lys1999del)
|
|
|
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)
|
|
|
NM_001369.3(DNAH5):c.6037C>T (p.Arg2013Ter)
|
rs1273352530
|
|
NM_001369.3(DNAH5):c.6061+1G>A
|
|
|
NM_001369.3(DNAH5):c.6088T>G (p.Cys2030Gly)
|
rs1763453207
|
|
NM_001369.3(DNAH5):c.6132del (p.Ala2045fs)
|
|
|
NM_001369.3(DNAH5):c.6165T>A (p.Cys2055Ter)
|
|
|
NM_001369.3(DNAH5):c.6173del (p.Glu2058fs)
|
|
|
NM_001369.3(DNAH5):c.6261T>G (p.Tyr2087Ter)
|
|
|
NM_001369.3(DNAH5):c.628del (p.Leu210fs)
|
|
|
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)
|
|
|
NM_001369.3(DNAH5):c.6368del (p.Gly2123fs)
|
rs2151835119
|
|
NM_001369.3(DNAH5):c.640C>T (p.Gln214Ter)
|
|
|
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)
|
|
|
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)
|
|
|
NM_001369.3(DNAH5):c.6494T>A (p.Leu2165Ter)
|
|
|
NM_001369.3(DNAH5):c.6508dup (p.Arg2170fs)
|
rs878854458
|
|
NM_001369.3(DNAH5):c.655G>T (p.Glu219Ter)
|
|
|
NM_001369.3(DNAH5):c.6605del (p.Phe2201_Leu2202insTer)
|
rs1762470883
|
|
NM_001369.3(DNAH5):c.6611del (p.Ser2203_Leu2204insTer)
|
|
|
NM_001369.3(DNAH5):c.6682A>T (p.Arg2228Ter)
|
rs1762460445
|
|
NM_001369.3(DNAH5):c.6688-1G>T
|
rs1057520697
|
|
NM_001369.3(DNAH5):c.670C>T (p.Arg224Ter)
|
rs771463510
|
|
NM_001369.3(DNAH5):c.6739C>T (p.Gln2247Ter)
|
rs2151814430
|
|
NM_001369.3(DNAH5):c.6754C>T (p.Gln2252Ter)
|
|
|
NM_001369.3(DNAH5):c.6757A>T (p.Arg2253Ter)
|
rs2151814381
|
|
NM_001369.3(DNAH5):c.677del (p.Cys226fs)
|
|
|
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)
|
|
|
NM_001369.3(DNAH5):c.6844del (p.Cys2282fs)
|
rs1489564718
|
|
NM_001369.3(DNAH5):c.6898C>T (p.Gln2300Ter)
|
|
|
NM_001369.3(DNAH5):c.6902_6917del (p.Met2301fs)
|
|
|
NM_001369.3(DNAH5):c.6932_6935del (p.Asp2311fs)
|
rs1554062097
|
|
NM_001369.3(DNAH5):c.694A>T (p.Lys232Ter)
|
|
|
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)
|
|
|
NM_001369.3(DNAH5):c.717_729del (p.Asp239fs)
|
rs2151992688
|
|
NM_001369.3(DNAH5):c.7231-11_7242del
|
|
|
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)
|
|
|
NM_001369.3(DNAH5):c.7325del (p.Asn2442fs)
|
|
|
NM_001369.3(DNAH5):c.7335_7336del (p.Tyr2445_Lys2446delinsTer)
|
|
|
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)
|
|
|
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)
|
|
|
NM_001369.3(DNAH5):c.7475dup (p.Ala2494fs)
|
|
|
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)
|
|
|
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)
|
|
|
NM_001369.3(DNAH5):c.7616G>A (p.Trp2539Ter)
|
rs2127007326
|
|
NM_001369.3(DNAH5):c.7625G>A (p.Trp2542Ter)
|
|
|
NM_001369.3(DNAH5):c.7647C>G (p.Tyr2549Ter)
|
|
|
NM_001369.3(DNAH5):c.7651dup (p.Tyr2551fs)
|
|
|
NM_001369.3(DNAH5):c.768C>A (p.Cys256Ter)
|
rs2151992604
|
|
NM_001369.3(DNAH5):c.7717dup (p.Asp2573fs)
|
|
|
NM_001369.3(DNAH5):c.774dup (p.Val259fs)
|
|
|
NM_001369.3(DNAH5):c.7753-1G>T
|
|
|
NM_001369.3(DNAH5):c.7821T>G (p.Tyr2607Ter)
|
rs2126996872
|
|
NM_001369.3(DNAH5):c.7858del (p.Ser2620fs)
|
rs2126996545
|
|
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)
|
|
|
NM_001369.3(DNAH5):c.8132del (p.Gly2711fs)
|
|
|
NM_001369.3(DNAH5):c.8161_8162del (p.Lys2721fs)
|
|
|
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)
|
|
|
NM_001369.3(DNAH5):c.8311C>T (p.Arg2771Cys)
|
|
|
NM_001369.3(DNAH5):c.8321_8322insC (p.Trp2774fs)
|
rs1554050517
|
|
NM_001369.3(DNAH5):c.8341del (p.Met2781fs)
|
|
|
NM_001369.3(DNAH5):c.8385del (p.Asp2796fs)
|
rs1178766548
|
|
NM_001369.3(DNAH5):c.8465G>A (p.Trp2822Ter)
|
rs1060501455
|
|
NM_001369.3(DNAH5):c.8477del (p.Cys2826fs)
|
|
|
NM_001369.3(DNAH5):c.8488dup (p.Ile2830fs)
|
|
|
NM_001369.3(DNAH5):c.8489_8490dup (p.Ala2831Ter)
|
rs2126882899
|
|
NM_001369.3(DNAH5):c.8497C>A (p.Arg2833Ser)
|
|
|
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)
|
|
|
NM_001369.3(DNAH5):c.8606_8607del (p.Thr2869fs)
|
rs1554049087
|
|
NM_001369.3(DNAH5):c.8630del (p.Asp2877fs)
|
|
|
NM_001369.3(DNAH5):c.8642del (p.Ala2881fs)
|
|
|
NM_001369.3(DNAH5):c.8685_8686insCC (p.Ile2896fs)
|
|
|
NM_001369.3(DNAH5):c.870G>A (p.Trp290Ter)
|
|
|
NM_001369.3(DNAH5):c.8751T>G (p.Tyr2917Ter)
|
|
|
NM_001369.3(DNAH5):c.8755G>T (p.Glu2919Ter)
|
|
|
NM_001369.3(DNAH5):c.877dup (p.Arg293fs)
|
rs781566109
|
|
NM_001369.3(DNAH5):c.8782_8786dup (p.Phe2930fs)
|
rs1755969817
|
|
NM_001369.3(DNAH5):c.8806del (p.Val2936fs)
|
rs2126868543
|
|
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
|
|
|
NM_001369.3(DNAH5):c.8848G>T (p.Gly2950Ter)
|
|
|
NM_001369.3(DNAH5):c.885dup (p.Lys296fs)
|
|
|
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)
|
|
|
NM_001369.3(DNAH5):c.8947dup (p.Thr2983fs)
|
|
|
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.9018C>T (p.Gly3006=)
|
rs1754239719
|
|
NM_001369.3(DNAH5):c.9019A>T (p.Lys3007Ter)
|
|
|
NM_001369.3(DNAH5):c.9033del (p.Phe3011fs)
|
rs2126813913
|
|
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)
|
|
|
NM_001369.3(DNAH5):c.9124C>T (p.Arg3042Ter)
|
rs760595654
|
|
NM_001369.3(DNAH5):c.9186del (p.Arg3062fs)
|
|
|
NM_001369.3(DNAH5):c.922del (p.Asp308fs)
|
|
|
NM_001369.3(DNAH5):c.9235C>T (p.Arg3079Ter)
|
rs1175877764
|
|
NM_001369.3(DNAH5):c.9280A>T (p.Lys3094Ter)
|
rs2126810319
|
|
NM_001369.3(DNAH5):c.9286C>T (p.Arg3096Ter)
|
|
|
NM_001369.3(DNAH5):c.931_934del (p.Ala311fs)
|
|
|
NM_001369.3(DNAH5):c.9339G>A (p.Trp3113Ter)
|
|
|
NM_001369.3(DNAH5):c.9354dup (p.Lys3119fs)
|
|
|
NM_001369.3(DNAH5):c.9365del (p.Ala3121_Leu3122insTer)
|
rs1060501460
|
|
NM_001369.3(DNAH5):c.9374-2A>T
|
rs1561215953
|
|
NM_001369.3(DNAH5):c.9379G>T (p.Glu3127Ter)
|
rs758303032
|
|
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)
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NM_001369.3(DNAH5):c.9480T>A (p.Cys3160Ter)
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rs764948792
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NM_001369.3(DNAH5):c.9489T>G (p.Tyr3163Ter)
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|
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NM_001369.3(DNAH5):c.9514dup (p.His3172fs)
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rs1561215326
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NM_001369.3(DNAH5):c.952del (p.Ala318fs)
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|
|
NM_001369.3(DNAH5):c.9530C>A (p.Ser3177Ter)
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|
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NM_001369.3(DNAH5):c.9534C>A (p.Tyr3178Ter)
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rs1580150353
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NM_001369.3(DNAH5):c.9540del (p.Phe3181fs)
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rs2126785787
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NM_001369.3(DNAH5):c.9557del (p.Lys3186fs)
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rs2126785666
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|
NM_001369.3(DNAH5):c.9605+1del
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|
|
NM_001369.3(DNAH5):c.9606-136_10101+1204delinsTTA
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NM_001369.3(DNAH5):c.9620del (p.Leu3207fs)
|
rs769691641
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NM_001369.3(DNAH5):c.9679A>T (p.Lys3227Ter)
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|
|
NM_001369.3(DNAH5):c.9682G>T (p.Glu3228Ter)
|
rs2126779627
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|
NM_001369.3(DNAH5):c.9694C>T (p.Gln3232Ter)
|
rs369683202
|
|
NM_001369.3(DNAH5):c.9730del (p.Glu3244fs)
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|
|
NM_001369.3(DNAH5):c.9778C>T (p.Gln3260Ter)
|
rs1752923333
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|
NM_001369.3(DNAH5):c.9782del (p.Lys3261fs)
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|
|
NM_001369.3(DNAH5):c.9799C>T (p.Gln3267Ter)
|
rs923842695
|
|
NM_001369.3(DNAH5):c.9805del (p.Ile3269fs)
|
|
|
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.9897+1G>A
|
rs914675446
|
|
NM_001369.3(DNAH5):c.9897+1G>T
|
|
|
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.9980del (p.Leu3327fs)
|
rs1752478598
|
|
NM_001369.3(DNAH5):c.9990del (p.Gln3331fs)
|
rs2126762332
|
|
NM_001369.3(DNAH5):c.9990dup (p.Gln3331fs)
|
|
|