|
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs)
|
rs534542684
|
0.00347
|
|
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00212
|
|
NM_213607.3(CCDC103):c.461A>C (p.His154Pro)
|
rs145457535
|
0.00123
|
|
NM_012144.4(DNAI1):c.48+2dup
|
rs397515363
|
0.00050
|
|
NM_017950.4(CCDC40):c.248del (p.Ala83fs)
|
rs397515393
|
0.00029
|
|
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val)
|
rs201502401
|
0.00020
|
|
NM_017777.4(MKS1):c.417G>A (p.Glu139=)
|
rs386834048
|
0.00014
|
|
NM_001199397.3(NEK1):c.3107C>G (p.Ser1036Ter)
|
rs199947197
|
0.00009
|
|
NM_023036.6(DNAI2):c.1304G>A (p.Trp435Ter)
|
rs752924362
|
0.00008
|
|
NM_147127.5(EVC2):c.3265C>T (p.Gln1089Ter)
|
rs137852927
|
0.00008
|
|
NM_001277115.2(DNAH11):c.6244C>T (p.Arg2082Ter)
|
rs200693106
|
0.00006
|
|
NM_001369.3(DNAH5):c.6249G>A (p.Met2083Ile)
|
rs753614861
|
0.00006
|
|
NM_080860.4(RSPH1):c.85G>T (p.Glu29Ter)
|
rs138320978
|
0.00006
|
|
NM_001277115.2(DNAH11):c.4333C>T (p.Arg1445Ter)
|
rs72657316
|
0.00004
|
|
NM_015662.3(IFT172):c.112C>T (p.Arg38Ter)
|
rs139021548
|
0.00004
|
|
NM_144596.4(TTC8):c.489G>A (p.Thr163=)
|
rs119103286
|
0.00004
|
|
NM_001010892.3(RSPH4A):c.116C>A (p.Ser39Ter)
|
rs368110732
|
0.00003
|
|
NM_001369.3(DNAH5):c.8642C>G (p.Ala2881Gly)
|
rs727502973
|
0.00002
|
|
NM_153704.6(TMEM67):c.514C>T (p.Arg172Ter)
|
rs765468645
|
0.00002
|
|
NM_001277115.2(DNAH11):c.8746C>T (p.Gln2916Ter)
|
rs797045085
|
0.00001
|
|
NM_001369.3(DNAH5):c.832del (p.Ala278fs)
|
rs727502977
|
0.00001
|
|
NM_017950.4(CCDC40):c.940-2A>G
|
rs750708201
|
0.00001
|
|
NM_198525.3(KIF7):c.2944G>T (p.Glu982Ter)
|
rs797045093
|
0.00001
|
|
NM_001023570.4(IQCB1):c.1363C>T (p.Arg455Ter)
|
rs866982675
|
|
|
NM_001044385.3(TMEM237):c.62del (p.Pro21fs)
|
rs1574587553
|
|
|
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu)
|
rs201108965
|
|
|
NM_001174150.2(ARL13B):c.393_396del (p.Gln132fs)
|
rs1560002959
|
|
|
NM_001277115.2(DNAH11):c.12466del (p.Leu4156fs)
|
rs1554292398
|
|
|
NM_001277115.2(DNAH11):c.7508_7509insTTG (p.Gly2503_Lys2504insTer)
|
rs797045086
|
|
|
NM_001369.3(DNAH5):c.13194_13197del (p.Asp4398fs)
|
rs727502971
|
|
|
NM_001369.3(DNAH5):c.1427_1428del (p.Phe476fs)
|
rs774493427
|
|
|
NM_001369.3(DNAH5):c.3037_3040del (p.Val1014fs)
|
rs1580731750
|
|
|
NM_001369.3(DNAH5):c.7468_7488del (p.Trp2490_Leu2496del)
|
rs727502975
|
|
|
NM_001369.3(DNAH5):c.9449del (p.Gly3150fs)
|
rs727504802
|
|
|
NM_001378454.1(ALMS1):c.1658_1659del (p.Lys553fs)
|
rs2103771766
|
|
|
NM_001384732.1(CPLANE1):c.1985dup (p.Leu663fs)
|
rs2150435584
|
|
|
NM_001384732.1(CPLANE1):c.2278C>T (p.Gln760Ter)
|
rs762334514
|
|
|
NM_012144.4(DNAI1):c.336del (p.Asp114fs)
|
rs876657683
|
|
|
NM_015272.5(RPGRIP1L):c.2992del (p.Ile998fs)
|
rs767018622
|
|
|
NM_015272.5(RPGRIP1L):c.3299_3300dup (p.Ala1101fs)
|
rs797045104
|
|
|
NM_015662.3(IFT172):c.296G>A (p.Trp99Ter)
|
rs1668654133
|
|
|
NM_018076.5(ODAD2):c.2495+1G>A
|
rs879253744
|
|
|
NM_018139.3(DNAAF2):c.1555del (p.Glu519fs)
|
rs1555327917
|
|
|
NM_018139.3(DNAAF2):c.727G>T (p.Glu243Ter)
|
rs727504815
|
|
|
NM_021147.5(CCNO):c.258_262dup (p.Gln88fs)
|
rs587777499
|
|
|
NM_023036.6(DNAI2):c.1672_1673del (p.Ala558fs)
|
rs1598348312
|
|
|
NM_024685.4(BBS10):c.1091del (p.Asn364fs)
|
rs727503818
|
|
|
NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer)
|
rs775950661
|
|
|
NM_024685.4(BBS10):c.646dup (p.Asp216fs)
|
rs1555202695
|
|
|
NM_024809.5(TCTN2):c.1877T>A (p.Leu626Ter)
|
rs786204788
|
|
|
NM_031427.4(DNAL1):c.224_230del (p.Ile74_Leu75insTer)
|
rs876657637
|
|
|
NM_031885.5(BBS2):c.661del (p.Leu221fs)
|
rs770258677
|
|
|
NM_033124.5(CCDC65):c.877_878del (p.Ile293fs)
|
rs863223325
|
|
|
NM_080860.4(RSPH1):c.563T>G (p.Leu188Ter)
|
rs727503394
|
|
|
NM_130810.4(DNAAF4):c.523del (p.Ile175fs)
|
rs751610886
|
|
|
NM_147127.5(EVC2):c.222_228+21del
|
rs1484464278
|
|
|
NM_178452.4(DNAAF1):c.(?_-181)_(*77_?)del
|
|
|
|
NM_213607.3(CCDC103):c.223_226dup (p.His76fs)
|
rs1597843267
|
|