NM_213607.3(CCDC103):c.461A>C (p.His154Pro)
|
rs145457535
|
0.00123
|
NM_181426.2(CCDC39):c.1167+1261A>G
|
rs577069249
|
0.00051
|
NM_012144.4(DNAI1):c.48+2dup
|
rs397515363
|
0.00050
|
NM_012144.4(DNAI1):c.389-1G>C
|
rs200488444
|
0.00046
|
NM_017950.4(CCDC40):c.248del (p.Ala83fs)
|
rs397515393
|
0.00029
|
NM_001277115.2(DNAH11):c.11804C>T (p.Pro3935Leu)
|
rs72658814
|
0.00025
|
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs)
|
rs397515540
|
0.00021
|
NM_001277115.2(DNAH11):c.6506C>T (p.Ser2169Leu)
|
rs373946181
|
0.00016
|
NM_001369.3(DNAH5):c.13775G>A (p.Arg4592Gln)
|
rs367709427
|
0.00014
|
NM_001206927.2(DNAH8):c.9194+1G>A
|
rs144711161
|
0.00013
|
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_003114.5(SPAG1):c.2014C>T (p.Gln672Ter)
|
rs201740530
|
0.00010
|
NM_017802.4(DNAAF5):c.1499G>T (p.Cys500Phe)
|
rs144405450
|
0.00010
|
NM_001256715.2(DNAAF3):c.86-64G>A
|
rs543369426
|
0.00009
|
NM_181426.2(CCDC39):c.610-2A>G
|
rs756235547
|
0.00009
|
NM_001206927.2(DNAH8):c.6131+1G>A
|
rs145974361
|
0.00008
|
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_001206927.2(DNAH8):c.12007+1G>T
|
rs372080325
|
0.00007
|
NM_001256715.2(DNAAF3):c.789+1G>C
|
rs770143722
|
0.00006
|
NM_001277115.2(DNAH11):c.6244C>T (p.Arg2082Ter)
|
rs200693106
|
0.00006
|
NM_001364171.2(ODAD1):c.448C>T (p.Arg150Ter)
|
rs752269093
|
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_181426.2(CCDC39):c.1874G>T (p.Ser625Ile)
|
rs769223754
|
0.00006
|
NM_080860.4(RSPH1):c.727+5G>A
|
rs200382776
|
0.00005
|
NM_001206927.2(DNAH8):c.11563+1G>T
|
rs776791493
|
0.00004
|
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_012144.4(DNAI1):c.1212T>G (p.Tyr404Ter)
|
rs926347298
|
0.00004
|
NM_012472.6(DNAAF11):c.2T>A (p.Met1Lys)
|
rs377278570
|
0.00004
|
NM_015512.5(DNAH1):c.11667_11668insC (p.Asp3890fs)
|
rs765688686
|
0.00004
|
NM_018719.5(CDCA7L):c.*1246G>A
|
rs72658835
|
0.00004
|
NM_023036.6(DNAI2):c.1142T>C (p.Leu381Pro)
|
rs373836524
|
0.00004
|
NM_145038.5(DRC1):c.1599+1G>A
|
rs146412095
|
0.00004
|
NM_181426.2(CCDC39):c.2T>C (p.Met1Thr)
|
rs758493174
|
0.00004
|
NM_001010892.3(RSPH4A):c.116C>A (p.Ser39Ter)
|
rs368110732
|
0.00003
|
NM_001010892.3(RSPH4A):c.1490dup (p.Ser498fs)
|
rs762267064
|
0.00003
|
NM_001206927.2(DNAH8):c.10963-1G>A
|
rs376903331
|
0.00003
|
NM_001206927.2(DNAH8):c.2664+2T>C
|
rs753831132
|
0.00003
|
NM_001277115.2(DNAH11):c.983-1G>T
|
rs777285019
|
0.00003
|
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_012144.4(DNAI1):c.1543G>A (p.Gly515Ser)
|
rs79833450
|
0.00003
|
NM_012144.4(DNAI1):c.1703G>C (p.Trp568Ser)
|
rs772686744
|
0.00003
|
NM_017802.4(DNAAF5):c.1258T>C (p.Cys420Arg)
|
rs147811057
|
0.00003
|
NM_130810.4(DNAAF4):c.988C>T (p.Arg330Trp)
|
rs201173498
|
0.00003
|
NM_001206927.2(DNAH8):c.2139+1G>A
|
rs376576474
|
0.00002
|
NM_001206927.2(DNAH8):c.5734-1G>T
|
rs781634544
|
0.00002
|
NM_001277115.2(DNAH11):c.1A>G (p.Met1Val)
|
rs1162526607
|
0.00002
|
NM_001277115.2(DNAH11):c.6130C>T (p.Arg2044Ter)
|
rs767595964
|
0.00002
|
NM_001364171.2(ODAD1):c.707C>T (p.Ala236Val)
|
rs374990723
|
0.00002
|
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_021147.5(CCNO):c.553_554del (p.Ile185fs)
|
rs1745611424
|
0.00002
|
NM_023036.6(DNAI2):c.1348-1G>A
|
rs745755917
|
0.00002
|
NM_023036.6(DNAI2):c.610+1G>A
|
rs758109864
|
0.00002
|
NM_181426.2(CCDC39):c.1999-2A>T
|
rs1399517463
|
0.00002
|
NM_001206927.2(DNAH8):c.3333+1G>A
|
rs756616538
|
0.00001
|
NM_001206927.2(DNAH8):c.763-1G>A
|
rs1582865345
|
0.00001
|
NM_001256715.2(DNAAF3):c.228+5G>C
|
rs372166228
|
0.00001
|
NM_001271049.2(CFAP221):c.2318+1G>A
|
rs759274091
|
0.00001
|
NM_001277115.2(DNAH11):c.10286G>A (p.Arg3429His)
|
rs756115857
|
0.00001
|
NM_001277115.2(DNAH11):c.10332+2T>C
|
rs972753865
|
0.00001
|
NM_001277115.2(DNAH11):c.10691+5G>C
|
rs1429978132
|
0.00001
|
NM_001277115.2(DNAH11):c.2T>G (p.Met1Arg)
|
rs1355068287
|
0.00001
|
NM_001277115.2(DNAH11):c.4944+1G>A
|
rs878854444
|
0.00001
|
NM_001277115.2(DNAH11):c.5500C>T (p.Arg1834Cys)
|
rs180897552
|
0.00001
|
NM_001364171.2(ODAD1):c.988+5G>A
|
rs1060500990
|
0.00001
|
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
|
NM_001372.4(DNAH9):c.8870_8871del (p.Pro2957fs)
|
rs749364709
|
0.00001
|
NM_001378189.1(CFAP57):c.1762C>T (p.Arg588Ter)
|
rs369556067
|
0.00001
|
NM_012144.4(DNAI1):c.1312-2A>G
|
rs1188227820
|
0.00001
|
NM_012144.4(DNAI1):c.1402-1G>A
|
rs1587089935
|
0.00001
|
NM_012144.4(DNAI1):c.1490-2A>G
|
rs775831317
|
0.00001
|
NM_012144.4(DNAI1):c.261+2T>G
|
rs1266767011
|
0.00001
|
NM_015896.4(ZMYND10):c.83G>A (p.Gly28Asp)
|
rs1703516836
|
0.00001
|
NM_017802.4(DNAAF5):c.1470+1G>A
|
rs767713588
|
0.00001
|
NM_017802.4(DNAAF5):c.1615-2A>G
|
rs371542660
|
0.00001
|
NM_017950.4(CCDC40):c.1093G>T (p.Glu365Ter)
|
rs1434356376
|
0.00001
|
NM_017950.4(CCDC40):c.2832+4A>T
|
rs756602466
|
0.00001
|
NM_023036.6(DNAI2):c.1347+1G>T
|
rs1567875399
|
0.00001
|
NM_023036.6(DNAI2):c.725-2A>C
|
rs1448501611
|
0.00001
|
NM_145038.5(DRC1):c.1029-1G>T
|
rs745800344
|
0.00001
|
NM_178452.6(DNAAF1):c.694C>G (p.Leu232Val)
|
rs761851970
|
0.00001
|
NM_181426.2(CCDC39):c.1356C>A (p.Tyr452Ter)
|
rs375839864
|
0.00001
|
NM_181426.2(CCDC39):c.1363-11A>G
|
rs1553804100
|
0.00001
|
NM_181426.2(CCDC39):c.1665+1G>A
|
rs753580394
|
0.00001
|
NM_213607.3(CCDC103):c.144-1G>A
|
rs747091524
|
0.00001
|
GRCh37/hg19 Xq22.3(chrX:105066840-106486528)
|
|
|
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
|
|
|
NC_000007.13:g.(?_21609667)_(21631215_?)dup
|
|
|
NC_000007.13:g.(?_21779281)_(21779934_?)del
|
|
|
NC_000007.14:g.(?_785511)_(785658_?)del
|
|
|
NC_000009.11:g.(?_34489311)_(34493336_?)del
|
|
|
NC_000009.11:g.(?_34489311)_(34520764_?)del
|
|
|
NC_000017.10:g.(?_72281159)_(72283257_?)dup
|
|
|
NC_000017.10:g.(?_72283110)_(72283243_?)dup
|
|
|
NC_000017.10:g.(?_72295847)_(72309109_?)dup
|
|
|
NC_000017.10:g.(?_72297175)_(72301591_?)dup
|
|
|
NC_000017.10:g.(?_78021971)_(78024070_?)del
|
|
|
NC_000017.11:g.(?_74309243)_(74310173_?)dup
|
|
|
NC_000019.10:g.(?_48302674)_(48312136_?)dup
|
|
|
NM_000328.3(RPGR):c.1906-2A>G
|
|
|
NM_001010892.3(RSPH4A):c.1082G>A (p.Gly361Asp)
|
|
|
NM_001010892.3(RSPH4A):c.1690del (p.Gln564fs)
|
rs1775758975
|
|
NM_001010892.3(RSPH4A):c.1818dup (p.Trp607fs)
|
rs748664881
|
|
NM_001010892.3(RSPH4A):c.1838C>G (p.Ser613Ter)
|
rs1775776645
|
|
NM_001010892.3(RSPH4A):c.2010dup (p.Ser671fs)
|
rs1400425886
|
|
NM_001010892.3(RSPH4A):c.921+2T>C
|
|
|
NM_001034853.2(RPGR):c.1059+1del
|
rs2147238385
|
|
NM_001034853.2(RPGR):c.1414+1G>A
|
|
|
NM_001034853.2(RPGR):c.1414+1G>C
|
|
|
NM_001034853.2(RPGR):c.1573-8A>G
|
rs62635011
|
|
NM_001034853.2(RPGR):c.1754-214_1801del
|
|
|
NM_001034853.2(RPGR):c.247+1G>A
|
|
|
NM_001034853.2(RPGR):c.311-1G>A
|
|
|
NM_001034853.2(RPGR):c.334G>A (p.Gly112Ser)
|
|
|
NM_001034853.2(RPGR):c.3395del (p.Asn1132fs)
|
|
|
NM_001034853.2(RPGR):c.442G>A (p.Gly148Arg)
|
rs2067876063
|
|
NM_001034853.2(RPGR):c.493G>C (p.Gly165Arg)
|
rs2067847091
|
|
NM_001034853.2(RPGR):c.592G>A (p.Gly198Arg)
|
rs1601972255
|
|
NM_001034853.2(RPGR):c.619+2_619+5del
|
|
|
NM_001034853.2(RPGR):c.620-2A>G
|
|
|
NM_001034853.2(RPGR):c.749G>A (p.Cys250Tyr)
|
rs1601961064
|
|
NM_001034853.2(RPGR):c.779-1G>A
|
rs62638655
|
|
NM_001034853.2(RPGR):c.800G>T (p.Gly267Val)
|
rs2147248019
|
|
NM_001034853.2(RPGR):c.814G>T (p.Gly272Cys)
|
|
|
NM_001034853.2(RPGR):c.824G>A (p.Gly275Asp)
|
|
|
NM_001034853.2(RPGR):c.905G>A (p.Cys302Tyr)
|
rs62640590
|
|
NM_001190787.3(MCIDAS):c.1004T>A (p.Leu335Ter)
|
rs1291689114
|
|
NM_001190787.3(MCIDAS):c.1142G>A (p.Arg381His)
|
rs797045152
|
|
NM_001206927.2(DNAH8):c.10309-1G>A
|
|
|
NM_001206927.2(DNAH8):c.10663-2A>G
|
|
|
NM_001206927.2(DNAH8):c.12249-2A>T
|
|
|
NM_001206927.2(DNAH8):c.13214+1G>A
|
|
|
NM_001206927.2(DNAH8):c.1516-2A>C
|
rs200115379
|
|
NM_001206927.2(DNAH8):c.2901+1G>A
|
|
|
NM_001206927.2(DNAH8):c.3150+1G>A
|
|
|
NM_001206927.2(DNAH8):c.4188+2T>A
|
|
|
NM_001206927.2(DNAH8):c.8259+1G>A
|
|
|
NM_001206927.2(DNAH8):c.9349-1G>T
|
rs1554132747
|
|
NM_001256715.2(DNAAF3):c.-4-1G>A
|
rs2147311724
|
|
NM_001256715.2(DNAAF3):c.1044_1048+13del
|
|
|
NM_001256715.2(DNAAF3):c.1051G>A (p.Ala351Thr)
|
rs748600370
|
|
NM_001256715.2(DNAAF3):c.1271dup (p.Phe426fs)
|
rs1349668884
|
|
NM_001256715.2(DNAAF3):c.174del (p.His59fs)
|
rs1384651581
|
|
NM_001256715.2(DNAAF3):c.854T>C (p.Phe285Ser)
|
|
|
NM_001271049.2(CFAP221):c.2303_2307del (p.Leu768fs)
|
rs2104806661
|
|
NM_001277115.2(DNAH11):c.10027-2A>G
|
rs868294039
|
|
NM_001277115.2(DNAH11):c.10165+1G>A
|
|
|
NM_001277115.2(DNAH11):c.10166-1G>C
|
|
|
NM_001277115.2(DNAH11):c.10332+1G>A
|
|
|
NM_001277115.2(DNAH11):c.10569-2A>G
|
|
|
NM_001277115.2(DNAH11):c.10897-2A>T
|
|
|
NM_001277115.2(DNAH11):c.11165T>C (p.Leu3722Pro)
|
rs1060503064
|
|
NM_001277115.2(DNAH11):c.11203-1G>C
|
rs1783074775
|
|
NM_001277115.2(DNAH11):c.11690+1G>A
|
|
|
NM_001277115.2(DNAH11):c.1194+2T>C
|
|
|
NM_001277115.2(DNAH11):c.11967+5G>A
|
rs878854436
|
|
NM_001277115.2(DNAH11):c.12195+1G>A
|
|
|
NM_001277115.2(DNAH11):c.13288G>C (p.Gly4430Arg)
|
rs1275074212
|
|
NM_001277115.2(DNAH11):c.13421_13453del (p.Gln4474_Lys4484del)
|
rs771508476
|
|
NM_001277115.2(DNAH11):c.13494_13500del (p.Ser4498fs)
|
rs1212535211
|
|
NM_001277115.2(DNAH11):c.13512_13525del (p.Trp4505fs)
|
rs2128053554
|
|
NM_001277115.2(DNAH11):c.1426-2A>G
|
rs1064794014
|
|
NM_001277115.2(DNAH11):c.1A>C (p.Met1Leu)
|
|
|
NM_001277115.2(DNAH11):c.2170-1G>C
|
|
|
NM_001277115.2(DNAH11):c.2274+1del
|
|
|
NM_001277115.2(DNAH11):c.2275-2A>G
|
|
|
NM_001277115.2(DNAH11):c.2667+1G>C
|
|
|
NM_001277115.2(DNAH11):c.3000+1G>T
|
|
|
NM_001277115.2(DNAH11):c.3255+1G>T
|
|
|
NM_001277115.2(DNAH11):c.3425+1G>A
|
|
|
NM_001277115.2(DNAH11):c.3648+2T>C
|
|
|
NM_001277115.2(DNAH11):c.3766-8A>G
|
rs1785297774
|
|
NM_001277115.2(DNAH11):c.3853-2A>G
|
|
|
NM_001277115.2(DNAH11):c.4012-1G>A
|
|
|
NM_001277115.2(DNAH11):c.4095+2C>A
|
rs532007878
|
|
NM_001277115.2(DNAH11):c.4096-2A>G
|
|
|
NM_001277115.2(DNAH11):c.4254+1G>A
|
rs2128453160
|
|
NM_001277115.2(DNAH11):c.4377+1G>A
|
|
|
NM_001277115.2(DNAH11):c.4378-1G>A
|
|
|
NM_001277115.2(DNAH11):c.4673_4725+36del
|
|
|
NM_001277115.2(DNAH11):c.4817+1_4817+16del
|
|
|
NM_001277115.2(DNAH11):c.4944+2T>C
|
|
|
NM_001277115.2(DNAH11):c.495+1G>T
|
|
|
NM_001277115.2(DNAH11):c.5094+1G>A
|
rs746014324
|
|
NM_001277115.2(DNAH11):c.5094+2T>G
|
|
|
NM_001277115.2(DNAH11):c.5095-1G>A
|
|
|
NM_001277115.2(DNAH11):c.5328+3A>G
|
rs1583570354
|
|
NM_001277115.2(DNAH11):c.5329-2A>G
|
rs932177093
|
|
NM_001277115.2(DNAH11):c.5622-1G>A
|
|
|
NM_001277115.2(DNAH11):c.5639C>A (p.Thr1880Asn)
|
rs1245853002
|
|
NM_001277115.2(DNAH11):c.5779-1G>C
|
|
|
NM_001277115.2(DNAH11):c.6042-1G>T
|
|
|
NM_001277115.2(DNAH11):c.6181-1G>A
|
rs1360420006
|
|
NM_001277115.2(DNAH11):c.6274-1G>A
|
|
|
NM_001277115.2(DNAH11):c.6468+2T>G
|
|
|
NM_001277115.2(DNAH11):c.6541A>G (p.Ser2181Gly)
|
rs1415270608
|
|
NM_001277115.2(DNAH11):c.6546+2T>C
|
|
|
NM_001277115.2(DNAH11):c.6763T>C (p.Trp2255Arg)
|
|
|
NM_001277115.2(DNAH11):c.6835-1G>A
|
|
|
NM_001277115.2(DNAH11):c.692+2T>C
|
|
|
NM_001277115.2(DNAH11):c.693-2A>G
|
|
|
NM_001277115.2(DNAH11):c.7440+2T>C
|
|
|
NM_001277115.2(DNAH11):c.7811+1G>C
|
|
|
NM_001277115.2(DNAH11):c.7812-2A>G
|
|
|
NM_001277115.2(DNAH11):c.7904_7914+645del
|
rs1785786687
|
|
NM_001277115.2(DNAH11):c.7907_7914+646del
|
rs1583647043
|
|
NM_001277115.2(DNAH11):c.7914+2T>C
|
|
|
NM_001277115.2(DNAH11):c.8525G>A (p.Arg2842Gln)
|
|
|
NM_001277115.2(DNAH11):c.8563G>A (p.Gly2855Arg)
|
rs1060503056
|
|
NM_001277115.2(DNAH11):c.8673+1G>A
|
rs1060503041
|
|
NM_001277115.2(DNAH11):c.8674-1G>A
|
|
|
NM_001277115.2(DNAH11):c.8798-1G>A
|
|
|
NM_001277115.2(DNAH11):c.8798-2A>G
|
|
|
NM_001277115.2(DNAH11):c.8940+1G>A
|
|
|
NM_001277115.2(DNAH11):c.9484-18_9486del
|
rs1788083949
|
|
NM_001277115.2(DNAH11):c.9598-1G>C
|
|
|
NM_001277115.2(DNAH11):c.982+1G>C
|
|
|
NM_001277115.2(DNAH11):c.9924+1G>A
|
rs1554281038
|
|
NM_001364171.2(ODAD1):c.1503-2A>G
|
|
|
NM_001364171.2(ODAD1):c.988+2T>C
|
|
|
NM_001369.2(DNAH5):c.(?_-1)_8448+?dup
|
|
|
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.4797-1G>C
|
rs1561449604
|
|
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
|
|
NM_003114.5(SPAG1):c.1119del (p.Ala374fs)
|
rs1244721341
|
|
NM_003114.5(SPAG1):c.301-2A>G
|
|
|
NM_003114.5(SPAG1):c.401C>G (p.Ser134Ter)
|
rs934869420
|
|
NM_003611.3(OFD1):c.2273C>G (p.Ser758Ter)
|
rs2047909739
|
|
NM_003611.3(OFD1):c.2789_2793del (p.Ile930fs)
|
rs797044945
|
|
NM_003611.3(OFD1):c.2862dup (p.Glu955Ter)
|
rs2147086302
|
|
NM_003611.3(OFD1):c.2868del (p.Pro957fs)
|
rs2147086315
|
|
NM_012144.4(DNAI1):c.1063+1G>A
|
rs1268770869
|
|
NM_012144.4(DNAI1):c.1163G>A (p.Cys388Tyr)
|
rs767667443
|
|
NM_012144.4(DNAI1):c.1163G>T (p.Cys388Phe)
|
rs767667443
|
|
NM_012144.4(DNAI1):c.1204G>A (p.Gly402Ser)
|
rs746647838
|
|
NM_012144.4(DNAI1):c.1204G>T (p.Gly402Cys)
|
|
|
NM_012144.4(DNAI1):c.1205G>T (p.Gly402Val)
|
|
|
NM_012144.4(DNAI1):c.1216G>A (p.Gly406Ser)
|
rs769177784
|
|
NM_012144.4(DNAI1):c.1311+1G>C
|
rs2132077044
|
|
NM_012144.4(DNAI1):c.1463del (p.Pro488fs)
|
rs2132081705
|
|
NM_012144.4(DNAI1):c.1489+2T>G
|
rs1825084931
|
|
NM_012144.4(DNAI1):c.1570-1G>T
|
rs1587091911
|
|
NM_012144.4(DNAI1):c.1612G>A (p.Ala538Thr)
|
rs368248592
|
|
NM_012144.4(DNAI1):c.1613C>T (p.Ala538Val)
|
rs2132083804
|
|
NM_012144.4(DNAI1):c.1718+1G>A
|
rs2132084012
|
|
NM_012144.4(DNAI1):c.1718+2T>G
|
|
|
NM_012144.4(DNAI1):c.1719-2A>G
|
|
|
NM_012144.4(DNAI1):c.180+1G>A
|
rs2132057443
|
|
NM_012144.4(DNAI1):c.180+1G>T
|
rs2132057443
|
|
NM_012144.4(DNAI1):c.180+2T>G
|
rs1587067513
|
|
NM_012144.4(DNAI1):c.181-2A>T
|
|
|
NM_012144.4(DNAI1):c.1818+1G>T
|
rs904790792
|
|
NM_012144.4(DNAI1):c.1818+2T>A
|
|
|
NM_012144.4(DNAI1):c.1819-2A>G
|
rs2132086408
|
|
NM_012144.4(DNAI1):c.1866_1873del (p.Gln623fs)
|
rs1825188115
|
|
NM_012144.4(DNAI1):c.2000_2001insTT (p.Lys667fs)
|
|
|
NM_012144.4(DNAI1):c.2001+1G>A
|
rs397515563
|
|
NM_012144.4(DNAI1):c.262-2A>G
|
rs1824533495
|
|
NM_012144.4(DNAI1):c.48+1G>C
|
rs2132034522
|
|
NM_012144.4(DNAI1):c.48+1G>T
|
|
|
NM_012144.4(DNAI1):c.49-1G>C
|
rs748042738
|
|
NM_012144.4(DNAI1):c.501+1G>A
|
rs1824556879
|
|
NM_012144.4(DNAI1):c.501+1G>T
|
|
|
NM_012144.4(DNAI1):c.681+1G>A
|
rs532919927
|
|
NM_012144.4(DNAI1):c.682-1G>A
|
rs2132065273
|
|
NM_012144.4(DNAI1):c.817-2A>G
|
rs2132068900
|
|
NM_012144.4(DNAI1):c.901+1G>A
|
|
|
NM_012144.4(DNAI1):c.901+1G>T
|
|
|
NM_012144.4(DNAI1):c.902-2A>G
|
rs2132071947
|
|
NM_012472.6(DNAAF11):c.354_355del (p.Phe119fs)
|
rs1821475039
|
|
NM_015896.4(ZMYND10):c.700+1G>A
|
rs1297857806
|
|
NM_015896.4(ZMYND10):c.87del (p.Glu30fs)
|
rs1703516483
|
|
NM_017802.4(DNAAF5):c.1258-2A>G
|
|
|
NM_017802.4(DNAAF5):c.1471-1G>A
|
|
|
NM_017950.4(CCDC40):c.1159+3A>T
|
rs1185054167
|
|
NM_017950.4(CCDC40):c.1160-2A>C
|
|
|
NM_017950.4(CCDC40):c.2235+1G>T
|
rs1568709952
|
|
NM_017950.4(CCDC40):c.2450-1G>A
|
rs774081599
|
|
NM_017950.4(CCDC40):c.2660dup (p.Asn887fs)
|
rs1567811487
|
|
NM_017950.4(CCDC40):c.2711+1G>A
|
|
|
NM_017950.4(CCDC40):c.3157del (p.Arg1053fs)
|
rs1567818236
|
|
NM_017950.4(CCDC40):c.3181-2A>G
|
rs762664261
|
|
NM_017950.4(CCDC40):c.3358C>T (p.Gln1120Ter)
|
rs2143789412
|
|
NM_017950.4(CCDC40):c.677-1G>T
|
|
|
NM_017950.4(CCDC40):c.677-2A>G
|
|
|
NM_017950.4(CCDC40):c.855+1G>A
|
rs1346603171
|
|
NM_017950.4(CCDC40):c.93+2T>C
|
rs2037179047
|
|
NM_017950.4(CCDC40):c.940-1G>C
|
rs2037540861
|
|
NM_018139.3(DNAAF2):c.1555del (p.Glu519fs)
|
rs1555327917
|
|
NM_018139.3(DNAAF2):c.727G>T (p.Glu243Ter)
|
rs727504815
|
|
NM_021147.5(CCNO):c.248_252dup (p.Gly85fs)
|
rs587777498
|
|
NM_021147.5(CCNO):c.258_262dup (p.Gln88fs)
|
rs587777499
|
|
NM_021147.5(CCNO):c.382-1G>T
|
rs1580411207
|
|
NM_021147.5(CCNO):c.563A>G (p.Lys188Arg)
|
rs1554019966
|
|
NM_021147.5(CCNO):c.961C>T (p.Gln321Ter)
|
rs587777501
|
|
NM_023036.6(DNAI2):c.1028T>G (p.Ile343Ser)
|
|
|
NM_023036.6(DNAI2):c.1211+2_1211+5del
|
rs2144077639
|
|
NM_023036.6(DNAI2):c.1212-2A>C
|
|
|
NM_023036.6(DNAI2):c.1288G>A (p.Gly430Arg)
|
|
|
NM_023036.6(DNAI2):c.1348-1G>T
|
rs745755917
|
|
NM_023036.6(DNAI2):c.1495-2A>T
|
|
|
NM_023036.6(DNAI2):c.1495-2_1495-1delinsTT
|
|
|
NM_023036.6(DNAI2):c.1672_1673del (p.Ala558fs)
|
rs1598348312
|
|
NM_023036.6(DNAI2):c.184-1G>A
|
rs1598278059
|
|
NM_023036.6(DNAI2):c.345+2T>C
|
|
|
NM_023036.6(DNAI2):c.468-2A>G
|
rs2143940594
|
|
NM_023036.6(DNAI2):c.610+1G>T
|
|
|
NM_023036.6(DNAI2):c.701G>A (p.Gly234Asp)
|
rs897911822
|
|
NM_023036.6(DNAI2):c.864+1G>T
|
rs1177965342
|
|
NM_023036.6(DNAI2):c.865-1G>C
|
rs776777011
|
|
NM_031421.5(ODAD4):c.704dup (p.His235fs)
|
|
|
NM_031427.4(DNAL1):c.224_230del (p.Ile74_Leu75insTer)
|
rs876657637
|
|
NM_033124.5(CCDC65):c.877_878del (p.Ile293fs)
|
rs863223325
|
|
NM_080860.4(RSPH1):c.376G>A (p.Gly126Ser)
|
|
|
NM_080860.4(RSPH1):c.502-1G>A
|
|
|
NM_080860.4(RSPH1):c.563T>G (p.Leu188Ter)
|
rs727503394
|
|
NM_130810.4(DNAAF4):c.523del (p.Ile175fs)
|
rs751610886
|
|
NM_139285.4(GAS2L2):c.887_890del (p.Val296fs)
|
rs587633197
|
|
NM_145038.5(DRC1):c.1600-2A>G
|
|
|
NM_145038.5(DRC1):c.357-2A>G
|
|
|
NM_145045.5(ODAD3):c.98C>A (p.Ser33Ter)
|
rs1969627663
|
|
NM_152732.5(RSPH9):c.228-6T>A
|
rs775136764
|
|
NM_152732.5(RSPH9):c.244del (p.Trp82fs)
|
rs2127891310
|
|
NM_152732.5(RSPH9):c.393+1G>A
|
rs1054247330
|
|
NM_152732.5(RSPH9):c.393+2del
|
rs1771335561
|
|
NM_152732.5(RSPH9):c.523+1G>C
|
rs762292335
|
|
NM_173494.2(DNAAF6):c.332+1G>A
|
rs2147829163
|
|
NM_178452.6(DNAAF1):c.741+2T>G
|
|
|
NM_178452.6(DNAAF1):c.778C>T (p.Gln260Ter)
|
rs2087613070
|
|
NM_178452.6(DNAAF1):c.831C>G (p.Tyr277Ter)
|
rs1396269749
|
|
NM_181426.2(CCDC39):c.1034+1G>A
|
|
|
NM_181426.2(CCDC39):c.1034+2T>A
|
rs1210953680
|
|
NM_181426.2(CCDC39):c.1045del (p.Thr349fs)
|
rs747980515
|
|
NM_181426.2(CCDC39):c.1168-2A>C
|
rs1468349011
|
|
NM_181426.2(CCDC39):c.1484_1485del (p.Lys495fs)
|
rs751239231
|
|
NM_181426.2(CCDC39):c.1666-9C>G
|
rs1717971093
|
|
NM_181426.2(CCDC39):c.1874+2T>C
|
|
|
NM_181426.2(CCDC39):c.1875-1G>C
|
|
|
NM_181426.2(CCDC39):c.1999-1G>C
|
|
|
NM_181426.2(CCDC39):c.2266-1G>A
|
|
|
NM_181426.2(CCDC39):c.2407-2del
|
rs1560079213
|
|
NM_181426.2(CCDC39):c.350A>G (p.Asp117Gly)
|
rs1560092712
|
|
NM_181426.2(CCDC39):c.352_354del (p.Lys118del)
|
rs1245822059
|
|
NM_181426.2(CCDC39):c.436del (p.Trp146fs)
|
rs2108429507
|
|
NM_181426.2(CCDC39):c.516+1G>A
|
|
|
NM_181426.2(CCDC39):c.830_831del (p.Thr277fs)
|
rs773801386
|
|
NM_181426.2(CCDC39):c.930+1G>A
|
|
|
NM_213607.3(CCDC103):c.223_226dup (p.His76fs)
|
rs1597843267
|
|
NM_213607.3(CCDC103):c.289dup (p.Leu97fs)
|
|
|
NM_213607.3(CCDC103):c.568_569dup (p.Ser190fs)
|
rs746242380
|
|