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.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.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.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.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.8497C>T (p.Arg2833Cys)
|
rs766481283
|
0.00001
|
NM_001369.3(DNAH5):c.9637del (p.Ala3213fs)
|
rs1305797678
|
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.10229C>T (p.Thr3410Met)
|
|
|
NM_001369.3(DNAH5):c.10420-1G>A
|
|
|
NM_001369.3(DNAH5):c.10420-2A>G
|
|
|
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.10872+1G>A
|
rs2126700213
|
|
NM_001369.3(DNAH5):c.1090-2A>C
|
|
|
NM_001369.3(DNAH5):c.11028+1G>C
|
rs2126694391
|
|
NM_001369.3(DNAH5):c.11028+2T>C
|
rs773447251
|
|
NM_001369.3(DNAH5):c.11168T>A (p.Leu3723Gln)
|
rs1554033862
|
|
NM_001369.3(DNAH5):c.11211+1G>A
|
rs1554033855
|
|
NM_001369.3(DNAH5):c.11211+2T>C
|
|
|
NM_001369.3(DNAH5):c.11455+1G>T
|
|
|
NM_001369.3(DNAH5):c.11570+2T>C
|
rs2126610509
|
|
NM_001369.3(DNAH5):c.11761+2T>A
|
rs2126606448
|
|
NM_001369.3(DNAH5):c.11761G>C (p.Gly3921Arg)
|
rs2126606457
|
|
NM_001369.3(DNAH5):c.11884-1G>C
|
|
|
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.12279+1G>A
|
|
|
NM_001369.3(DNAH5):c.12280-1G>A
|
|
|
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.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.12909+2T>C
|
rs2126503314
|
|
NM_001369.3(DNAH5):c.13194_13197del (p.Asp4398fs)
|
rs727502971
|
|
NM_001369.3(DNAH5):c.1321-2A>G
|
rs2151981226
|
|
NM_001369.3(DNAH5):c.13338+1G>A
|
|
|
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.1645-2A>G
|
|
|
NM_001369.3(DNAH5):c.1731-2A>T
|
rs2151963411
|
|
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.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.2431+1G>A
|
|
|
NM_001369.3(DNAH5):c.2431+1G>T
|
|
|
NM_001369.3(DNAH5):c.2432-1G>C
|
|
|
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.2744-2A>T
|
|
|
NM_001369.3(DNAH5):c.2772del (p.Thr924_Leu925insTer)
|
rs1554090622
|
|
NM_001369.3(DNAH5):c.3037_3040del (p.Val1014fs)
|
rs1580731750
|
|
NM_001369.3(DNAH5):c.3175-1G>A
|
|
|
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+2T>C
|
rs981267400
|
|
NM_001369.3(DNAH5):c.3599-2A>G
|
|
|
NM_001369.3(DNAH5):c.3834+1G>A
|
|
|
NM_001369.3(DNAH5):c.3835-2del
|
rs2151914274
|
|
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.4117-1G>A
|
|
|
NM_001369.3(DNAH5):c.4117-2A>G
|
rs1467301649
|
|
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.4792_4796+10del
|
|
|
NM_001369.3(DNAH5):c.4796+1G>A
|
rs989235687
|
|
NM_001369.3(DNAH5):c.5147G>C (p.Arg1716Pro)
|
rs74799487
|
|
NM_001369.3(DNAH5):c.5271+1G>T
|
|
|
NM_001369.3(DNAH5):c.5272-1G>A
|
|
|
NM_001369.3(DNAH5):c.5485-1G>T
|
|
|
NM_001369.3(DNAH5):c.5485-2A>T
|
rs2151860622
|
|
NM_001369.3(DNAH5):c.54_57+5del
|
|
|
NM_001369.3(DNAH5):c.5588del (p.Phe1863fs)
|
rs2151860332
|
|
NM_001369.3(DNAH5):c.5665_5666del (p.Leu1889fs)
|
rs767779749
|
|
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.6037C>T (p.Arg2013Ter)
|
rs1273352530
|
|
NM_001369.3(DNAH5):c.6250-2A>G
|
rs2151835519
|
|
NM_001369.3(DNAH5):c.6445-2A>G
|
rs1309120344
|
|
NM_001369.3(DNAH5):c.6580-1G>T
|
|
|
NM_001369.3(DNAH5):c.6657C>A (p.Tyr2219Ter)
|
rs1270916321
|
|
NM_001369.3(DNAH5):c.6841+1G>A
|
|
|
NM_001369.3(DNAH5):c.6841+1G>C
|
rs2151814082
|
|
NM_001369.3(DNAH5):c.6908G>C (p.Gly2303Ala)
|
|
|
NM_001369.3(DNAH5):c.6932_6935del (p.Asp2311fs)
|
rs1554062097
|
|
NM_001369.3(DNAH5):c.6988+2T>C
|
rs2151806960
|
|
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.7579_7590del (p.Thr2527_Asp2530del)
|
rs1554058577
|
|
NM_001369.3(DNAH5):c.7610-1G>A
|
|
|
NM_001369.3(DNAH5):c.7610-2A>G
|
|
|
NM_001369.3(DNAH5):c.7888-1G>A
|
rs767603357
|
|
NM_001369.3(DNAH5):c.798+1G>A
|
|
|
NM_001369.3(DNAH5):c.799-269_1072del
|
|
|
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.8092_8097del (p.Val2698_Asp2699del)
|
rs1757363484
|
|
NM_001369.3(DNAH5):c.8141del (p.Asn2714fs)
|
rs2126910254
|
|
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.8360_8361insT (p.Lys2787fs)
|
rs1757084798
|
|
NM_001369.3(DNAH5):c.8386G>C (p.Asp2796His)
|
rs2126899976
|
|
NM_001369.3(DNAH5):c.8396G>C (p.Arg2799Pro)
|
|
|
NM_001369.3(DNAH5):c.8449G>T (p.Asp2817Tyr)
|
rs745885469
|
|
NM_001369.3(DNAH5):c.8648-2A>T
|
|
|
NM_001369.3(DNAH5):c.8821-923_8868del
|
rs1755013971
|
|
NM_001369.3(DNAH5):c.8951+1G>A
|
|
|
NM_001369.3(DNAH5):c.9105+2T>C
|
rs1580179985
|
|
NM_001369.3(DNAH5):c.9106-1G>A
|
|
|
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.9606-1G>A
|
|
|
NM_001369.3(DNAH5):c.9606-2A>G
|
rs755550738
|
|
NM_001369.3(DNAH5):c.9721-1G>C
|
|
|
NM_001369.3(DNAH5):c.9799C>T (p.Gln3267Ter)
|
rs923842695
|
|
NM_001369.3(DNAH5):c.9986T>C (p.Leu3329Pro)
|
rs878854459
|
|