NM_001369.3(DNAH5):c.962C>T (p.Ser321Leu)
|
rs201077964
|
0.00040
|
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs)
|
rs397515540
|
0.00021
|
NM_001369.3(DNAH5):c.13775G>A (p.Arg4592Gln)
|
rs367709427
|
0.00014
|
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.8828G>A (p.Arg2943His)
|
rs184758570
|
0.00008
|
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.10615C>T (p.Arg3539Cys)
|
rs1304504006
|
0.00004
|
NM_001369.3(DNAH5):c.4116G>C (p.Gln1372His)
|
rs139463637
|
0.00004
|
NM_001369.3(DNAH5):c.11528C>T (p.Ser3843Leu)
|
rs78346432
|
0.00003
|
NM_001369.3(DNAH5):c.12380G>A (p.Arg4127His)
|
rs762555871
|
0.00003
|
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.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.439-2A>G
|
rs565076112
|
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.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.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.13338+1G>C
|
rs1219958424
|
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.2052+1G>T
|
rs1774569455
|
0.00001
|
NM_001369.3(DNAH5):c.2224C>T (p.Arg742Ter)
|
rs776686983
|
0.00001
|
NM_001369.3(DNAH5):c.2744-1G>T
|
rs1772232595
|
0.00001
|
NM_001369.3(DNAH5):c.2983+1G>A
|
rs1772196982
|
0.00001
|
NM_001369.3(DNAH5):c.4348C>T (p.Gln1450Ter)
|
rs771663107
|
0.00001
|
NM_001369.3(DNAH5):c.5036G>A (p.Cys1679Tyr)
|
rs1221785647
|
0.00001
|
NM_001369.3(DNAH5):c.5146C>T (p.Arg1716Trp)
|
rs368644722
|
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.6308C>A (p.Ser2103Ter)
|
rs769260126
|
0.00001
|
NM_001369.3(DNAH5):c.6335_6336insT (p.Gln2112fs)
|
rs779506456
|
0.00001
|
NM_001369.3(DNAH5):c.7096C>T (p.Arg2366Trp)
|
rs868151020
|
0.00001
|
NM_001369.3(DNAH5):c.7888-2A>G
|
rs1230911299
|
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.8030G>A (p.Arg2677Gln)
|
rs886043448
|
0.00001
|
NM_001369.3(DNAH5):c.8147T>C (p.Ile2716Thr)
|
rs746501395
|
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.8396G>A (p.Arg2799Gln)
|
rs1182948401
|
0.00001
|
NM_001369.3(DNAH5):c.8497C>T (p.Arg2833Cys)
|
rs766481283
|
0.00001
|
NM_001369.3(DNAH5):c.9637del (p.Ala3213fs)
|
rs1305797678
|
0.00001
|
NM_001369.3(DNAH5):c.9720+5G>A
|
rs763440781
|
0.00001
|
NC_000005.10:g.(?_13768960)_(13794058_?)del
|
|
|
NC_000005.10:g.(?_13876664)_(13914662_?)del
|
|
|
NC_000005.9:g.(?_13729538)_(13771099_?)dup
|
|
|
NC_000005.9:g.(?_13753332)_(13754457_?)del
|
|
|
NC_000005.9:g.(?_13769059)_(13794177_?)del
|
|
|
NC_000005.9:g.(?_13792093)_(13794177_?)del
|
|
|
NC_000005.9:g.(?_13841005)_(13841249_?)del
|
|
|
NC_000005.9:g.(?_13886063)_(13911612_?)dup
|
|
|
NC_000005.9:g.(?_13899162)_(13901374_?)del
|
|
|
NC_000005.9:g.(?_13917246)_(13919467_?)del
|
|
|
NC_000005.9:g.(?_13917269)_(13919732_?)del
|
|
|
NC_000005.9:g.(?_13922436)_13923774del
|
|
|
NM_001369.3(DNAH5):c.10030del (p.Ser3344fs)
|
|
|
NM_001369.3(DNAH5):c.10065del (p.Lys3355fs)
|
|
|
NM_001369.3(DNAH5):c.10201G>T (p.Gly3401Ter)
|
|
|
NM_001369.3(DNAH5):c.10229C>T (p.Thr3410Met)
|
|
|
NM_001369.3(DNAH5):c.10289T>A (p.Leu3430Ter)
|
|
|
NM_001369.3(DNAH5):c.10304_10306delinsTTCG (p.Asn3435fs)
|
|
|
NM_001369.3(DNAH5):c.10420-1G>A
|
|
|
NM_001369.3(DNAH5):c.10420-2A>G
|
|
|
NM_001369.3(DNAH5):c.10555+1G>T
|
|
|
NM_001369.3(DNAH5):c.10555G>C (p.Gly3519Arg)
|
rs79967166
|
|
NM_001369.3(DNAH5):c.10556-1G>A
|
|
|
NM_001369.3(DNAH5):c.10616G>C (p.Arg3539Pro)
|
|
|
NM_001369.3(DNAH5):c.10764_10765delinsA (p.Gln3589fs)
|
|
|
NM_001369.3(DNAH5):c.10771G>T (p.Gly3591Ter)
|
|
|
NM_001369.3(DNAH5):c.10783_10784del (p.Thr3595fs)
|
|
|
NM_001369.3(DNAH5):c.10872+1G>A
|
rs2126700213
|
|
NM_001369.3(DNAH5):c.1090-2A>C
|
|
|
NM_001369.3(DNAH5):c.1090del (p.Leu364fs)
|
rs1476338953
|
|
NM_001369.3(DNAH5):c.10933del (p.Arg3645fs)
|
|
|
NM_001369.3(DNAH5):c.11028+1G>C
|
rs2126694391
|
|
NM_001369.3(DNAH5):c.11028+2T>C
|
rs773447251
|
|
NM_001369.3(DNAH5):c.11163del (p.Gly3722fs)
|
rs2126689141
|
|
NM_001369.3(DNAH5):c.11168T>A (p.Leu3723Gln)
|
rs1554033862
|
|
NM_001369.3(DNAH5):c.11203G>T (p.Glu3735Ter)
|
|
|
NM_001369.3(DNAH5):c.11205delinsTGTGTATAAGAGACAGT (p.Glu3735fs)
|
|
|
NM_001369.3(DNAH5):c.11207_11208insT (p.Lys3736fs)
|
|
|
NM_001369.3(DNAH5):c.11211+1G>A
|
rs1554033855
|
|
NM_001369.3(DNAH5):c.11211+2T>C
|
|
|
NM_001369.3(DNAH5):c.11380G>T (p.Glu3794Ter)
|
|
|
NM_001369.3(DNAH5):c.11455+1G>T
|
|
|
NM_001369.3(DNAH5):c.11469del (p.Ser3824fs)
|
|
|
NM_001369.3(DNAH5):c.11496_11497del (p.Glu3832fs)
|
|
|
NM_001369.3(DNAH5):c.1152_1153del (p.His385fs)
|
|
|
NM_001369.3(DNAH5):c.11570+2T>C
|
rs2126610509
|
|
NM_001369.3(DNAH5):c.11668G>T (p.Glu3890Ter)
|
|
|
NM_001369.3(DNAH5):c.11705del (p.Lys3902fs)
|
|
|
NM_001369.3(DNAH5):c.11761+2T>A
|
rs2126606448
|
|
NM_001369.3(DNAH5):c.11761G>C (p.Gly3921Arg)
|
rs2126606457
|
|
NM_001369.3(DNAH5):c.11766_11768delinsCTCTGGTTGGTGAG (p.Ala3923delinsSerGlyTrpTer)
|
|
|
NM_001369.3(DNAH5):c.11783_11784del (p.Lys3928fs)
|
|
|
NM_001369.3(DNAH5):c.11857A>T (p.Arg3953Ter)
|
|
|
NM_001369.3(DNAH5):c.1186_1190delinsA (p.Leu396fs)
|
|
|
NM_001369.3(DNAH5):c.11884-1G>C
|
|
|
NM_001369.3(DNAH5):c.11935dup (p.Glu3979fs)
|
rs2126564662
|
|
NM_001369.3(DNAH5):c.11938G>T (p.Glu3980Ter)
|
|
|
NM_001369.3(DNAH5):c.1198-1G>A
|
|
|
NM_001369.3(DNAH5):c.12009G>A (p.Trp4003Ter)
|
rs2126564103
|
|
NM_001369.3(DNAH5):c.12033+1G>A
|
rs2126563913
|
|
NM_001369.3(DNAH5):c.12069del (p.Lys4023fs)
|
|
|
NM_001369.3(DNAH5):c.12073_12074insATAGAGAAGAGGT (p.Ala4025fs)
|
|
|
NM_001369.3(DNAH5):c.12074_12075insTGTCTCTTATACACAG (p.Glu4026fs)
|
|
|
NM_001369.3(DNAH5):c.12279+1G>A
|
|
|
NM_001369.3(DNAH5):c.12280-1G>A
|
|
|
NM_001369.3(DNAH5):c.12298C>T (p.Gln4100Ter)
|
|
|
NM_001369.3(DNAH5):c.12377dup (p.Arg4127fs)
|
|
|
NM_001369.3(DNAH5):c.12459_12460insTGTTTTTTTT (p.Pro4154fs)
|
|
|
NM_001369.3(DNAH5):c.12478G>T (p.Gly4160Ter)
|
|
|
NM_001369.3(DNAH5):c.12499+1G>A
|
rs1579894454
|
|
NM_001369.3(DNAH5):c.12499+2T>G
|
rs1484826593
|
|
NM_001369.3(DNAH5):c.12500-2A>G
|
|
|
NM_001369.3(DNAH5):c.12650_12653delinsATAAGAGACAGT (p.Phe4217fs)
|
|
|
NM_001369.3(DNAH5):c.12705+1G>A
|
|
|
NM_001369.3(DNAH5):c.12705+1G>T
|
|
|
NM_001369.3(DNAH5):c.12779A>T (p.Asp4260Val)
|
rs1744309029
|
|
NM_001369.3(DNAH5):c.12816_12817del (p.Phe4272fs)
|
|
|
NM_001369.3(DNAH5):c.12899delinsTT (p.Gln4300fs)
|
|
|
NM_001369.3(DNAH5):c.12909+2T>C
|
rs2126503314
|
|
NM_001369.3(DNAH5):c.1291A>T (p.Lys431Ter)
|
|
|
NM_001369.3(DNAH5):c.1303_1304insAGTGT (p.Ala435fs)
|
|
|
NM_001369.3(DNAH5):c.13040del (p.Gly4347fs)
|
|
|
NM_001369.3(DNAH5):c.13119dup (p.Phe4374fs)
|
|
|
NM_001369.3(DNAH5):c.13194_13197del (p.Asp4398fs)
|
rs727502971
|
|
NM_001369.3(DNAH5):c.1321-2A>G
|
rs2151981226
|
|
NM_001369.3(DNAH5):c.13255_13256del (p.Asp4419fs)
|
|
|
NM_001369.3(DNAH5):c.13338+1G>A
|
|
|
NM_001369.3(DNAH5):c.13364del (p.Gly4455fs)
|
|
|
NM_001369.3(DNAH5):c.1344_1348del (p.Gln451fs)
|
|
|
NM_001369.3(DNAH5):c.13458dup (p.Asn4487Ter)
|
rs775696136
|
|
NM_001369.3(DNAH5):c.13491+1G>A
|
|
|
NM_001369.3(DNAH5):c.13760A>G (p.Tyr4587Cys)
|
rs1320036244
|
|
NM_001369.3(DNAH5):c.1384_1399delinsATTGTT (p.Phe462fs)
|
|
|
NM_001369.3(DNAH5):c.1411G>T (p.Gly471Ter)
|
|
|
NM_001369.3(DNAH5):c.141T>A (p.Cys47Ter)
|
|
|
NM_001369.3(DNAH5):c.1427_1428del (p.Phe476fs)
|
rs774493427
|
|
NM_001369.3(DNAH5):c.149del (p.Leu50fs)
|
|
|
NM_001369.3(DNAH5):c.1530del (p.Lys510fs)
|
|
|
NM_001369.3(DNAH5):c.1576_1577del (p.Leu526fs)
|
|
|
NM_001369.3(DNAH5):c.1645-2A>G
|
|
|
NM_001369.3(DNAH5):c.1693_1694insGCAGG (p.Thr565fs)
|
|
|
NM_001369.3(DNAH5):c.1731-2A>T
|
rs2151963411
|
|
NM_001369.3(DNAH5):c.1750_1751insTGTATAAGAGACA (p.Gly584fs)
|
|
|
NM_001369.3(DNAH5):c.1789_1790insACACTCAGCAGCA (p.Gly597fs)
|
|
|
NM_001369.3(DNAH5):c.193-1G>A
|
rs369193065
|
|
NM_001369.3(DNAH5):c.193-2A>G
|
rs769267893
|
|
NM_001369.3(DNAH5):c.2052+2T>C
|
|
|
NM_001369.3(DNAH5):c.2052+3G>T
|
|
|
NM_001369.3(DNAH5):c.2087T>A (p.Leu696Ter)
|
|
|
NM_001369.3(DNAH5):c.2188G>T (p.Glu730Ter)
|
|
|
NM_001369.3(DNAH5):c.2259+1G>A
|
|
|
NM_001369.3(DNAH5):c.2260-1G>A
|
rs1561524235
|
|
NM_001369.3(DNAH5):c.2260-2A>G
|
rs1773706886
|
|
NM_001369.3(DNAH5):c.2278C>T (p.Gln760Ter)
|
|
|
NM_001369.3(DNAH5):c.2283_2284del (p.Arg761fs)
|
rs1462578042
|
|
NM_001369.3(DNAH5):c.2382G>A (p.Trp794Ter)
|
|
|
NM_001369.3(DNAH5):c.2398_2408del (p.Glu800fs)
|
|
|
NM_001369.3(DNAH5):c.2431+1G>A
|
|
|
NM_001369.3(DNAH5):c.2431+1G>T
|
|
|
NM_001369.3(DNAH5):c.2432-1G>C
|
|
|
NM_001369.3(DNAH5):c.2449_2452del (p.Leu817fs)
|
|
|
NM_001369.3(DNAH5):c.2518_2519del (p.Cys841fs)
|
|
|
NM_001369.3(DNAH5):c.2554_2555insTATAAGAGACAGT (p.Glu852delinsValTer)
|
|
|
NM_001369.3(DNAH5):c.2557_2565delinsAA (p.Glu853fs)
|
|
|
NM_001369.3(DNAH5):c.2566_2567insTATGCCGTCTTCTGCTTGT (p.Gln856fs)
|
|
|
NM_001369.3(DNAH5):c.2577+1G>A
|
|
|
NM_001369.3(DNAH5):c.2577+1G>T
|
|
|
NM_001369.3(DNAH5):c.2577+2del
|
|
|
NM_001369.3(DNAH5):c.2578-1G>A
|
rs1166599454
|
|
NM_001369.3(DNAH5):c.2720_2721del (p.Val907fs)
|
|
|
NM_001369.3(DNAH5):c.2724_2727del (p.Asn908fs)
|
|
|
NM_001369.3(DNAH5):c.2744-2A>T
|
|
|
NM_001369.3(DNAH5):c.2766del (p.Phe922fs)
|
|
|
NM_001369.3(DNAH5):c.2772del (p.Thr924_Leu925insTer)
|
rs1554090622
|
|
NM_001369.3(DNAH5):c.2780C>A (p.Ser927Ter)
|
|
|
NM_001369.3(DNAH5):c.2797dup (p.Ala933fs)
|
rs2151941780
|
|
NM_001369.3(DNAH5):c.2938dup (p.Ala980fs)
|
|
|
NM_001369.3(DNAH5):c.293del (p.Leu98fs)
|
|
|
NM_001369.3(DNAH5):c.2942delinsGCAGCA (p.Ile981fs)
|
|
|
NM_001369.3(DNAH5):c.2947A>T (p.Lys983Ter)
|
|
|
NM_001369.3(DNAH5):c.2969_2970del (p.Thr990fs)
|
|
|
NM_001369.3(DNAH5):c.2996_2997insAATATTT (p.Ser1000fs)
|
|
|
NM_001369.3(DNAH5):c.3017del (p.Ser1006fs)
|
|
|
NM_001369.3(DNAH5):c.3034del (p.Ala1012fs)
|
|
|
NM_001369.3(DNAH5):c.3037_3040del (p.Val1014fs)
|
rs1580731750
|
|
NM_001369.3(DNAH5):c.3051del (p.Ile1018fs)
|
|
|
NM_001369.3(DNAH5):c.3082G>T (p.Glu1028Ter)
|
|
|
NM_001369.3(DNAH5):c.3152G>A (p.Trp1051Ter)
|
|
|
NM_001369.3(DNAH5):c.3162_3163insACCATTT (p.Leu1055fs)
|
|
|
NM_001369.3(DNAH5):c.3175-1G>A
|
|
|
NM_001369.3(DNAH5):c.3238_3240delinsT (p.Glu1080fs)
|
|
|
NM_001369.3(DNAH5):c.3262+1G>A
|
rs757275351
|
|
NM_001369.3(DNAH5):c.3262+2T>G
|
rs2151938077
|
|
NM_001369.3(DNAH5):c.3263-2A>G
|
|
|
NM_001369.3(DNAH5):c.3598+1G>A
|
rs2151920209
|
|
NM_001369.3(DNAH5):c.3598+2T>C
|
rs981267400
|
|
NM_001369.3(DNAH5):c.3599-2A>G
|
|
|
NM_001369.3(DNAH5):c.3675C>G (p.Tyr1225Ter)
|
rs769582678
|
|
NM_001369.3(DNAH5):c.3766_3767insAAAGT (p.Ala1256fs)
|
|
|
NM_001369.3(DNAH5):c.3774del (p.Ala1259fs)
|
|
|
NM_001369.3(DNAH5):c.3799C>T (p.Gln1267Ter)
|
|
|
NM_001369.3(DNAH5):c.3834+1G>A
|
|
|
NM_001369.3(DNAH5):c.3835-2del
|
rs2151914274
|
|
NM_001369.3(DNAH5):c.3849_3850insGTCGCCGTATCATT (p.Leu1284fs)
|
|
|
NM_001369.3(DNAH5):c.3880G>T (p.Glu1294Ter)
|
|
|
NM_001369.3(DNAH5):c.3886_3887delinsGTGG (p.Ile1296fs)
|
|
|
NM_001369.3(DNAH5):c.3945del (p.Val1316fs)
|
|
|
NM_001369.3(DNAH5):c.4018C>T (p.Gln1340Ter)
|
|
|
NM_001369.3(DNAH5):c.4042del (p.Asp1348fs)
|
|
|
NM_001369.3(DNAH5):c.4053+1G>A
|
rs1060501466
|
|
NM_001369.3(DNAH5):c.4053+1G>T
|
rs1060501466
|
|
NM_001369.3(DNAH5):c.4054-1G>A
|
rs2151911687
|
|
NM_001369.3(DNAH5):c.4054-2A>G
|
|
|
NM_001369.3(DNAH5):c.4094del (p.Ser1365fs)
|
rs1769229991
|
|
NM_001369.3(DNAH5):c.4102_4111del (p.Leu1368fs)
|
|
|
NM_001369.3(DNAH5):c.4117-1G>A
|
|
|
NM_001369.3(DNAH5):c.4117-2A>G
|
rs1467301649
|
|
NM_001369.3(DNAH5):c.4130del (p.Asn1377fs)
|
|
|
NM_001369.3(DNAH5):c.4151_4152del (p.Thr1384fs)
|
|
|
NM_001369.3(DNAH5):c.415_416insGAGTAAACAATGGC (p.Ile139fs)
|
|
|
NM_001369.3(DNAH5):c.417_418insTT (p.Thr140fs)
|
|
|
NM_001369.3(DNAH5):c.4189_4191delinsT (p.Thr1397fs)
|
|
|
NM_001369.3(DNAH5):c.421_422insTGTCTCTTATA (p.Pro141fs)
|
|
|
NM_001369.3(DNAH5):c.4256del (p.Tyr1419fs)
|
|
|
NM_001369.3(DNAH5):c.4304C>A (p.Ser1435Ter)
|
|
|
NM_001369.3(DNAH5):c.4349del (p.Gln1450fs)
|
|
|
NM_001369.3(DNAH5):c.4380_4381del (p.Lys1461fs)
|
|
|
NM_001369.3(DNAH5):c.4400dup (p.Leu1467fs)
|
rs1252973555
|
|
NM_001369.3(DNAH5):c.4467del (p.Ala1490fs)
|
|
|
NM_001369.3(DNAH5):c.4530del (p.Asn1511fs)
|
rs1554082275
|
|
NM_001369.3(DNAH5):c.4545del (p.Lys1515fs)
|
|
|
NM_001369.3(DNAH5):c.4547T>A (p.Leu1516Ter)
|
|
|
NM_001369.3(DNAH5):c.457_458insGGTAACAG (p.Leu153delinsTrpTer)
|
|
|
NM_001369.3(DNAH5):c.4597-1G>A
|
rs2151905981
|
|
NM_001369.3(DNAH5):c.4597-1G>T
|
rs2151905981
|
|
NM_001369.3(DNAH5):c.4597-2A>T
|
|
|
NM_001369.3(DNAH5):c.4597-2del
|
|
|
NM_001369.3(DNAH5):c.4625_4626insTCCAC (p.Arg1542fs)
|
|
|
NM_001369.3(DNAH5):c.4643T>C (p.Leu1548Pro)
|
rs1768634470
|
|
NM_001369.3(DNAH5):c.4648C>T (p.Gln1550Ter)
|
|
|
NM_001369.3(DNAH5):c.4660_4661del (p.Glu1554fs)
|
|
|
NM_001369.3(DNAH5):c.4712_4713insAATTG (p.Leu1572fs)
|
|
|
NM_001369.3(DNAH5):c.4743_4744insTCTTATACACATCTGTG (p.Ile1582delinsSerTyrThrHisLeuTer)
|
|
|
NM_001369.3(DNAH5):c.4792_4796+10del
|
|
|
NM_001369.3(DNAH5):c.4796+1G>A
|
rs989235687
|
|
NM_001369.3(DNAH5):c.5046_5047insCATC (p.Glu1683fs)
|
|
|
NM_001369.3(DNAH5):c.5135_5140delinsCC (p.Leu1712fs)
|
|
|
NM_001369.3(DNAH5):c.5147G>C (p.Arg1716Pro)
|
rs74799487
|
|
NM_001369.3(DNAH5):c.5181_5182del (p.Glu1727fs)
|
|
|
NM_001369.3(DNAH5):c.5194del (p.Ala1732fs)
|
rs2151870249
|
|
NM_001369.3(DNAH5):c.5198_5199delinsT (p.Ser1733fs)
|
|
|
NM_001369.3(DNAH5):c.5238_5256dup (p.Lys1753Ter)
|
|
|
NM_001369.3(DNAH5):c.5271+1G>T
|
|
|
NM_001369.3(DNAH5):c.5272-1G>A
|
|
|
NM_001369.3(DNAH5):c.5360_5361insATCAAAC (p.Trp1788fs)
|
|
|
NM_001369.3(DNAH5):c.5387_5388insAGCAGCACGACGA (p.Gln1797fs)
|
|
|
NM_001369.3(DNAH5):c.5455del (p.Thr1819fs)
|
|
|
NM_001369.3(DNAH5):c.5458G>T (p.Glu1820Ter)
|
|
|
NM_001369.3(DNAH5):c.5485-1G>T
|
|
|
NM_001369.3(DNAH5):c.5485-2A>T
|
rs2151860622
|
|
NM_001369.3(DNAH5):c.5489_5490delinsCAATAAACAATC (p.Gly1830fs)
|
|
|
NM_001369.3(DNAH5):c.54_57+5del
|
|
|
NM_001369.3(DNAH5):c.5563del (p.Ile1855fs)
|
rs752925056
|
|
NM_001369.3(DNAH5):c.5588del (p.Phe1863fs)
|
rs2151860332
|
|
NM_001369.3(DNAH5):c.5590del (p.Leu1864fs)
|
|
|
NM_001369.3(DNAH5):c.5593G>T (p.Glu1865Ter)
|
|
|
NM_001369.3(DNAH5):c.5613_5616del (p.Ile1871fs)
|
|
|
NM_001369.3(DNAH5):c.5665_5666del (p.Leu1889fs)
|
rs767779749
|
|
NM_001369.3(DNAH5):c.5689del (p.Arg1897fs)
|
rs2151860024
|
|
NM_001369.3(DNAH5):c.5710-6T>A
|
|
|
NM_001369.3(DNAH5):c.5757del (p.Gln1919fs)
|
rs1764868213
|
|
NM_001369.3(DNAH5):c.57_57+1delinsAA
|
rs1560984816
|
|
NM_001369.3(DNAH5):c.58-1G>A
|
rs1778386695
|
|
NM_001369.3(DNAH5):c.5802_5803insGACG (p.Ile1935fs)
|
|
|
NM_001369.3(DNAH5):c.5815_5821del (p.Ala1939fs)
|
|
|
NM_001369.3(DNAH5):c.5851_5852del (p.Asp1951fs)
|
|
|
NM_001369.3(DNAH5):c.587_588insTTCACAAAGCCTT (p.Gln197fs)
|
|
|
NM_001369.3(DNAH5):c.5890_5894dup (p.Leu1966fs)
|
rs1436141222
|
|
NM_001369.3(DNAH5):c.6000C>A (p.Tyr2000Ter)
|
rs773208371
|
|
NM_001369.3(DNAH5):c.6037C>T (p.Arg2013Ter)
|
rs1273352530
|
|
NM_001369.3(DNAH5):c.6083G>A (p.Trp2028Ter)
|
|
|
NM_001369.3(DNAH5):c.617delinsCTTATACACATC (p.Phe206fs)
|
|
|
NM_001369.3(DNAH5):c.6182del (p.Lys2061fs)
|
|
|
NM_001369.3(DNAH5):c.6250-2A>G
|
rs2151835519
|
|
NM_001369.3(DNAH5):c.6379_6381delinsGACACTCAGCA (p.Asn2127fs)
|
|
|
NM_001369.3(DNAH5):c.6439_6440del (p.Lys2147fs)
|
|
|
NM_001369.3(DNAH5):c.6442C>T (p.Gln2148Ter)
|
rs777303718
|
|
NM_001369.3(DNAH5):c.6445-2A>G
|
rs1309120344
|
|
NM_001369.3(DNAH5):c.6482_6483del (p.Val2161fs)
|
|
|
NM_001369.3(DNAH5):c.6570_6573del (p.Ser2191fs)
|
|
|
NM_001369.3(DNAH5):c.6574A>T (p.Lys2192Ter)
|
|
|
NM_001369.3(DNAH5):c.6574_6576delinsT (p.Lys2192fs)
|
|
|
NM_001369.3(DNAH5):c.6580-1G>T
|
|
|
NM_001369.3(DNAH5):c.6657C>A (p.Tyr2219Ter)
|
rs1270916321
|
|
NM_001369.3(DNAH5):c.6691_6692del (p.Glu2231fs)
|
|
|
NM_001369.3(DNAH5):c.6739C>T (p.Gln2247Ter)
|
rs2151814430
|
|
NM_001369.3(DNAH5):c.6841+1G>A
|
|
|
NM_001369.3(DNAH5):c.6841+1G>C
|
rs2151814082
|
|
NM_001369.3(DNAH5):c.68del (p.Lys23fs)
|
|
|
NM_001369.3(DNAH5):c.6908G>C (p.Gly2303Ala)
|
|
|
NM_001369.3(DNAH5):c.6924del (p.Thr2309fs)
|
|
|
NM_001369.3(DNAH5):c.6932_6935del (p.Asp2311fs)
|
rs1554062097
|
|
NM_001369.3(DNAH5):c.6961del (p.Trp2321fs)
|
|
|
NM_001369.3(DNAH5):c.6988+2T>C
|
rs2151806960
|
|
NM_001369.3(DNAH5):c.700dup (p.Leu234fs)
|
|
|
NM_001369.3(DNAH5):c.7024_7030delinsAAT (p.Asp2342fs)
|
|
|
NM_001369.3(DNAH5):c.7052_7053del (p.Ser2351fs)
|
|
|
NM_001369.3(DNAH5):c.7065_7066insTT (p.Asn2356fs)
|
rs2151800607
|
|
NM_001369.3(DNAH5):c.7091del (p.Gly2364fs)
|
|
|
NM_001369.3(DNAH5):c.7131_7146del (p.Phe2377fs)
|
|
|
NM_001369.3(DNAH5):c.7231-11_7240del
|
rs2127027745
|
|
NM_001369.3(DNAH5):c.7240A>T (p.Lys2414Ter)
|
|
|
NM_001369.3(DNAH5):c.7295dup (p.Asp2434fs)
|
|
|
NM_001369.3(DNAH5):c.7359dup (p.Val2454fs)
|
|
|
NM_001369.3(DNAH5):c.7363_7364insCTGT (p.Ile2455fs)
|
|
|
NM_001369.3(DNAH5):c.7407+1G>A
|
rs749711805
|
|
NM_001369.3(DNAH5):c.7408-1G>A
|
|
|
NM_001369.3(DNAH5):c.7468_7488del (p.Trp2490_Leu2496del)
|
rs727502975
|
|
NM_001369.3(DNAH5):c.750_753delinsTG (p.Leu250fs)
|
|
|
NM_001369.3(DNAH5):c.7521del (p.Trp2507fs)
|
|
|
NM_001369.3(DNAH5):c.7548_7549insTATGTGT (p.Glu2517delinsTyrValTer)
|
|
|
NM_001369.3(DNAH5):c.7579_7590del (p.Thr2527_Asp2530del)
|
rs1554058577
|
|
NM_001369.3(DNAH5):c.7605_7606insTGGGTGCT (p.Asp2536fs)
|
|
|
NM_001369.3(DNAH5):c.7610-1G>A
|
|
|
NM_001369.3(DNAH5):c.7610-2A>G
|
|
|
NM_001369.3(DNAH5):c.7677T>A (p.Tyr2559Ter)
|
|
|
NM_001369.3(DNAH5):c.7849_7850del (p.Leu2617fs)
|
|
|
NM_001369.3(DNAH5):c.7888-1G>A
|
rs767603357
|
|
NM_001369.3(DNAH5):c.7967T>C (p.Ile2656Thr)
|
rs752318477
|
|
NM_001369.3(DNAH5):c.798+1G>A
|
|
|
NM_001369.3(DNAH5):c.7982_7989del (p.Met2661fs)
|
|
|
NM_001369.3(DNAH5):c.799-269_1072del
|
|
|
NM_001369.3(DNAH5):c.8001G>A (p.Trp2667Ter)
|
|
|
NM_001369.3(DNAH5):c.8010+1G>A
|
|
|
NM_001369.3(DNAH5):c.8010+2T>C
|
|
|
NM_001369.3(DNAH5):c.8030G>C (p.Arg2677Pro)
|
|
|
NM_001369.3(DNAH5):c.8044C>T (p.Gln2682Ter)
|
|
|
NM_001369.3(DNAH5):c.8058T>A (p.Tyr2686Ter)
|
|
|
NM_001369.3(DNAH5):c.8068A>T (p.Lys2690Ter)
|
|
|
NM_001369.3(DNAH5):c.8092_8097del (p.Val2698_Asp2699del)
|
rs1757363484
|
|
NM_001369.3(DNAH5):c.8141del (p.Asn2714fs)
|
rs2126910254
|
|
NM_001369.3(DNAH5):c.8161A>T (p.Lys2721Ter)
|
|
|
NM_001369.3(DNAH5):c.8221_8224+9del
|
|
|
NM_001369.3(DNAH5):c.8225-1G>A
|
|
|
NM_001369.3(DNAH5):c.8225-2A>G
|
rs2126901340
|
|
NM_001369.3(DNAH5):c.8321G>A (p.Trp2774Ter)
|
|
|
NM_001369.3(DNAH5):c.8340_8341del (p.Lys2780fs)
|
|
|
NM_001369.3(DNAH5):c.8360_8361insT (p.Lys2787fs)
|
rs1757084798
|
|
NM_001369.3(DNAH5):c.8370T>A (p.Tyr2790Ter)
|
|
|
NM_001369.3(DNAH5):c.8386G>C (p.Asp2796His)
|
rs2126899976
|
|
NM_001369.3(DNAH5):c.8396G>C (p.Arg2799Pro)
|
|
|
NM_001369.3(DNAH5):c.8403del (p.Trp2801fs)
|
|
|
NM_001369.3(DNAH5):c.8449G>T (p.Asp2817Tyr)
|
rs745885469
|
|
NM_001369.3(DNAH5):c.8528T>C (p.Phe2843Ser)
|
rs77377082
|
|
NM_001369.3(DNAH5):c.8624T>A (p.Leu2875Ter)
|
|
|
NM_001369.3(DNAH5):c.8648-2A>T
|
|
|
NM_001369.3(DNAH5):c.8659G>T (p.Glu2887Ter)
|
|
|
NM_001369.3(DNAH5):c.8659_8660del (p.Glu2887fs)
|
|
|
NM_001369.3(DNAH5):c.8685_8686del (p.Lys2895fs)
|
|
|
NM_001369.3(DNAH5):c.8691T>A (p.Tyr2897Ter)
|
|
|
NM_001369.3(DNAH5):c.8743C>T (p.Gln2915Ter)
|
|
|
NM_001369.3(DNAH5):c.877dup (p.Arg293fs)
|
rs781566109
|
|
NM_001369.3(DNAH5):c.8790_8791del (p.Phe2931fs)
|
|
|
NM_001369.3(DNAH5):c.8821-923_8868del
|
rs1755013971
|
|
NM_001369.3(DNAH5):c.8951+1G>A
|
|
|
NM_001369.3(DNAH5):c.8993T>A (p.Leu2998Ter)
|
|
|
NM_001369.3(DNAH5):c.9032_9033del (p.Phe3011fs)
|
|
|
NM_001369.3(DNAH5):c.9041_9042del (p.Thr3014fs)
|
|
|
NM_001369.3(DNAH5):c.9105+2T>C
|
rs1580179985
|
|
NM_001369.3(DNAH5):c.9106-1G>A
|
|
|
NM_001369.3(DNAH5):c.9139G>T (p.Glu3047Ter)
|
|
|
NM_001369.3(DNAH5):c.9292A>T (p.Arg3098Ter)
|
|
|
NM_001369.3(DNAH5):c.9365del (p.Ala3121_Leu3122insTer)
|
rs1060501460
|
|
NM_001369.3(DNAH5):c.9373+1G>C
|
rs1754098584
|
|
NM_001369.3(DNAH5):c.9373+1G>T
|
|
|
NM_001369.3(DNAH5):c.9449del (p.Gly3150fs)
|
rs727504802
|
|
NM_001369.3(DNAH5):c.9555T>A (p.Tyr3185Ter)
|
|
|
NM_001369.3(DNAH5):c.9606-1G>A
|
|
|
NM_001369.3(DNAH5):c.9606-2A>G
|
rs755550738
|
|
NM_001369.3(DNAH5):c.9620T>A (p.Leu3207Ter)
|
|
|
NM_001369.3(DNAH5):c.9686dup (p.Glu3230fs)
|
|
|
NM_001369.3(DNAH5):c.9721-1G>C
|
|
|
NM_001369.3(DNAH5):c.9736_9737insG (p.Thr3246fs)
|
|
|
NM_001369.3(DNAH5):c.9761del (p.Lys3254fs)
|
|
|
NM_001369.3(DNAH5):c.9766A>T (p.Lys3256Ter)
|
|
|
NM_001369.3(DNAH5):c.9768_9769delinsTGCGGAACT (p.Lys3256fs)
|
|
|
NM_001369.3(DNAH5):c.9774_9775insTATAAGAGACA (p.Val3259fs)
|
|
|
NM_001369.3(DNAH5):c.9781A>T (p.Lys3261Ter)
|
|
|
NM_001369.3(DNAH5):c.9799C>T (p.Gln3267Ter)
|
rs923842695
|
|
NM_001369.3(DNAH5):c.9958del (p.Met3320fs)
|
|
|
NM_001369.3(DNAH5):c.9975C>A (p.Cys3325Ter)
|
rs771715883
|
|
NM_001369.3(DNAH5):c.9982_9983insACATA (p.Leu3328fs)
|
|
|
NM_001369.3(DNAH5):c.9986T>C (p.Leu3329Pro)
|
rs878854459
|
|
NM_001369.3(DNAH5):c.9990del (p.Gln3331fs)
|
rs2126762332
|
|
Single allele
|
|
|