NM_001206927.2(DNAH8):c.12496C>T (p.Arg4166Ter)
|
rs150428096
|
0.00020
|
NM_001206927.2(DNAH8):c.5251C>T (p.Arg1751Ter)
|
rs201568629
|
0.00007
|
NM_001206927.2(DNAH8):c.8632C>T (p.Arg2878Ter)
|
rs149070832
|
0.00006
|
NM_001206927.2(DNAH8):c.11967del (p.Thr3991fs)
|
rs756851431
|
0.00004
|
NM_001206927.2(DNAH8):c.2949dup (p.Val984fs)
|
rs770372463
|
0.00004
|
NM_001206927.2(DNAH8):c.11602C>T (p.Arg3868Ter)
|
rs769929539
|
0.00003
|
NM_001206927.2(DNAH8):c.3268C>T (p.Arg1090Ter)
|
rs199969537
|
0.00003
|
NM_001206927.2(DNAH8):c.5380C>T (p.Arg1794Ter)
|
rs781224411
|
0.00003
|
NM_001206927.2(DNAH8):c.5738_5741dup (p.Leu1915fs)
|
rs1190884969
|
0.00003
|
NM_001206927.2(DNAH8):c.7362del (p.Ser2455fs)
|
rs769126261
|
0.00003
|
NM_001206927.2(DNAH8):c.9070C>T (p.Arg3024Ter)
|
rs375764737
|
0.00003
|
NM_001206927.2(DNAH8):c.2919G>A (p.Trp973Ter)
|
rs767180208
|
0.00002
|
NM_001206927.2(DNAH8):c.4198C>T (p.Gln1400Ter)
|
rs753062783
|
0.00002
|
NM_001206927.2(DNAH8):c.4582del (p.Glu1528fs)
|
rs756919169
|
0.00002
|
NM_001206927.2(DNAH8):c.6083_6084del (p.Glu2028fs)
|
rs777912337
|
0.00002
|
NM_001206927.2(DNAH8):c.9079C>T (p.Arg3027Ter)
|
rs747550558
|
0.00002
|
NM_001206927.2(DNAH8):c.9748C>T (p.Arg3250Ter)
|
rs747123680
|
0.00002
|
NM_001206927.2(DNAH8):c.10335G>A (p.Trp3445Ter)
|
rs1437893220
|
0.00001
|
NM_001206927.2(DNAH8):c.11087_11088insCTTTTTCC (p.Lys3697fs)
|
rs765386646
|
0.00001
|
NM_001206927.2(DNAH8):c.11877T>G (p.Tyr3959Ter)
|
rs754334951
|
0.00001
|
NM_001206927.2(DNAH8):c.5005G>T (p.Glu1669Ter)
|
rs1438128043
|
0.00001
|
NM_001206927.2(DNAH8):c.619C>T (p.Arg207Ter)
|
rs776176679
|
0.00001
|
NM_001206927.2(DNAH8):c.7866G>A (p.Trp2622Ter)
|
rs766256391
|
0.00001
|
NM_001206927.2(DNAH8):c.8278C>T (p.Arg2760Ter)
|
rs776257226
|
0.00001
|
NM_001206927.2(DNAH8):c.8761G>T (p.Glu2921Ter)
|
rs369304378
|
0.00001
|
NM_001206927.2(DNAH8):c.9304G>T (p.Glu3102Ter)
|
rs1223799853
|
0.00001
|
NC_000006.11:g.(?_38690586)_(38697782_?)del
|
|
|
NC_000006.11:g.(?_38702230)_(38709683_?)del
|
|
|
NC_000006.11:g.(?_38754521)_(38759470_?)del
|
|
|
NC_000006.11:g.(?_38881605)_(38885936_?)del
|
|
|
NC_000006.11:g.(?_38939348)_(38942325_?)del
|
|
|
NC_000006.12:g.38973662dup
|
rs1299196993
|
|
NM_001206927.2(DNAH8):c.10048dup (p.Ile3350fs)
|
|
|
NM_001206927.2(DNAH8):c.10279del (p.Cys3427fs)
|
rs2533450264
|
|
NM_001206927.2(DNAH8):c.10302dup (p.Leu3435fs)
|
|
|
NM_001206927.2(DNAH8):c.10311del (p.Leu3437_Met3438insTer)
|
|
|
NM_001206927.2(DNAH8):c.10608del (p.Ala3537fs)
|
|
|
NM_001206927.2(DNAH8):c.10744dup (p.Ile3582fs)
|
|
|
NM_001206927.2(DNAH8):c.1124_1127del (p.Ile375fs)
|
rs771580014
|
|
NM_001206927.2(DNAH8):c.11286_11293del (p.Asp3763fs)
|
rs2533556336
|
|
NM_001206927.2(DNAH8):c.11586_11589del (p.Ile3864fs)
|
|
|
NM_001206927.2(DNAH8):c.11714del (p.Gly3905fs)
|
rs758035061
|
|
NM_001206927.2(DNAH8):c.11765_11766dup (p.Gln3923fs)
|
|
|
NM_001206927.2(DNAH8):c.11915dup (p.Asn3972fs)
|
|
|
NM_001206927.2(DNAH8):c.12838C>T (p.Arg4280Ter)
|
|
|
NM_001206927.2(DNAH8):c.12876C>A (p.Tyr4292Ter)
|
|
|
NM_001206927.2(DNAH8):c.12939C>A (p.Cys4313Ter)
|
rs751151452
|
|
NM_001206927.2(DNAH8):c.12963G>A (p.Trp4321Ter)
|
rs2533918431
|
|
NM_001206927.2(DNAH8):c.13303G>T (p.Glu4435Ter)
|
|
|
NM_001206927.2(DNAH8):c.13394del (p.Met4465fs)
|
rs2534078747
|
|
NM_001206927.2(DNAH8):c.1703_1704del (p.Ser567_Phe568insTer)
|
|
|
NM_001206927.2(DNAH8):c.1856dup (p.Asn619fs)
|
rs752991804
|
|
NM_001206927.2(DNAH8):c.2007_2011del (p.Leu669fs)
|
|
|
NM_001206927.2(DNAH8):c.2084del (p.His695fs)
|
rs2127637299
|
|
NM_001206927.2(DNAH8):c.2383C>T (p.Gln795Ter)
|
|
|
NM_001206927.2(DNAH8):c.2395+1dup
|
rs1768809177
|
|
NM_001206927.2(DNAH8):c.2400dup (p.Gln801fs)
|
rs765139051
|
|
NM_001206927.2(DNAH8):c.2489_2490del (p.Lys830fs)
|
rs1562782355
|
|
NM_001206927.2(DNAH8):c.2685del (p.Gly896fs)
|
rs1250753880
|
|
NM_001206927.2(DNAH8):c.2699T>A (p.Leu900Ter)
|
rs1769605097
|
|
NM_001206927.2(DNAH8):c.3031_3034del (p.Ser1011fs)
|
rs781128315
|
|
NM_001206927.2(DNAH8):c.3031_3034dup (p.Glu1012fs)
|
rs781128315
|
|
NM_001206927.2(DNAH8):c.3093T>G (p.Tyr1031Ter)
|
rs1488305206
|
|
NM_001206927.2(DNAH8):c.3139G>T (p.Glu1047Ter)
|
rs2532519909
|
|
NM_001206927.2(DNAH8):c.3184C>T (p.Gln1062Ter)
|
rs1771404948
|
|
NM_001206927.2(DNAH8):c.3246dup (p.Phe1083fs)
|
|
|
NM_001206927.2(DNAH8):c.3483_3489del (p.Thr1162fs)
|
rs766707325
|
|
NM_001206927.2(DNAH8):c.3511A>T (p.Lys1171Ter)
|
rs1772190647
|
|
NM_001206927.2(DNAH8):c.3572dup (p.Val1193fs)
|
|
|
NM_001206927.2(DNAH8):c.3787G>T (p.Glu1263Ter)
|
rs1416631904
|
|
NM_001206927.2(DNAH8):c.3904C>T (p.Arg1302Ter)
|
|
|
NM_001206927.2(DNAH8):c.4906G>T (p.Glu1636Ter)
|
rs1775234077
|
|
NM_001206927.2(DNAH8):c.5069del (p.Asn1690fs)
|
|
|
NM_001206927.2(DNAH8):c.549dup (p.Ala184fs)
|
rs1032638497
|
|
NM_001206927.2(DNAH8):c.5635C>T (p.Gln1879Ter)
|
rs1297488496
|
|
NM_001206927.2(DNAH8):c.5762G>A (p.Trp1921Ter)
|
rs2150400998
|
|
NM_001206927.2(DNAH8):c.6125del (p.Thr2042fs)
|
rs2532975061
|
|
NM_001206927.2(DNAH8):c.6679C>T (p.Gln2227Ter)
|
rs777610268
|
|
NM_001206927.2(DNAH8):c.6777_6778del (p.Ser2259fs)
|
rs754547680
|
|
NM_001206927.2(DNAH8):c.6860T>G (p.Leu2287Ter)
|
rs2533069131
|
|
NM_001206927.2(DNAH8):c.6962_6968del (p.His2321fs)
|
rs752692263
|
|
NM_001206927.2(DNAH8):c.7086_7089dup (p.Glu2364fs)
|
rs777613343
|
|
NM_001206927.2(DNAH8):c.7210_7211del (p.Trp2404fs)
|
|
|
NM_001206927.2(DNAH8):c.7396G>T (p.Glu2466Ter)
|
rs1430752700
|
|
NM_001206927.2(DNAH8):c.7793del (p.Leu2598fs)
|
rs749731714
|
|
NM_001206927.2(DNAH8):c.7978_7979dup (p.Asp2660fs)
|
rs753496815
|
|
NM_001206927.2(DNAH8):c.8041_8042del (p.Val2681fs)
|
|
|
NM_001206927.2(DNAH8):c.8081_8085del (p.Val2694fs)
|
rs2533205148
|
|
NM_001206927.2(DNAH8):c.8108C>A (p.Ser2703Ter)
|
rs2533205504
|
|
NM_001206927.2(DNAH8):c.8375del (p.Pro2792fs)
|
rs776079621
|
|
NM_001206927.2(DNAH8):c.8635_8636del (p.Asp2879fs)
|
rs753926744
|
|
NM_001206927.2(DNAH8):c.8690C>G (p.Ser2897Ter)
|
|
|
NM_001206927.2(DNAH8):c.8826del (p.Ala2943fs)
|
|
|
NM_001206927.2(DNAH8):c.8952_8953insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTTGGATTACAGGCGTGAGCCACCGCGCCCGGCCGCCATCCTTT (p.Asp2985delinsPhePhePhePhePhePheXaaXaaXaaXaaProAspLeuValIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer)
|
rs2533317859
|
|
NM_001206927.2(DNAH8):c.9095del (p.Asn3032fs)
|
rs1561836628
|
|
NM_001206927.2(DNAH8):c.9298_9305del (p.Lys3100fs)
|
rs2150520528
|
|
NM_001206927.2(DNAH8):c.9529del (p.Arg3177fs)
|
rs2533394646
|
|
NM_001206927.2(DNAH8):c.9812_9813insGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAACATTTATGC (p.Glu3272fs)
|
|
|
NM_001206927.2(DNAH8):c.9898A>T (p.Lys3300Ter)
|
rs2150536009
|
|