NM_033028.5(BBS4):c.1061T>C (p.Ile354Thr)
|
rs2277598
|
0.52665
|
NM_170784.3(MKKS):c.117C>T (p.Pro39=)
|
rs16991547
|
0.18435
|
NM_170784.3(MKKS):c.534C>T (p.Ile178=)
|
rs17852625
|
0.14082
|
NM_033028.5(BBS4):c.1451-45T>C
|
rs75847960
|
0.08550
|
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr)
|
rs61747071
|
0.04969
|
NM_016616.4(NME8):c.271-27C>T
|
rs117149381
|
0.01739
|
NM_033028.5(BBS4):c.*1G>C
|
rs113678046
|
0.01165
|
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs)
|
rs534542684
|
0.00347
|
NM_001384732.1(CPLANE1):c.8050G>A (p.Ala2684Thr)
|
rs111294855
|
0.00212
|
NM_170784.3(MKKS):c.-74G>A
|
rs113994194
|
0.00070
|
NM_012144.4(DNAI1):c.48+2dup
|
rs397515363
|
0.00050
|
NM_080860.4(RSPH1):c.275-2A>C
|
rs151107532
|
0.00048
|
NM_017950.4(CCDC40):c.248del (p.Ala83fs)
|
rs397515393
|
0.00029
|
NM_025114.4(CEP290):c.2991+1655A>G
|
rs281865192
|
0.00029
|
NM_001364171.2(ODAD1):c.853G>A (p.Ala285Thr)
|
rs147718607
|
0.00022
|
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs)
|
rs397515540
|
0.00021
|
NM_015896.4(ZMYND10):c.47T>G (p.Val16Gly)
|
rs138815960
|
0.00021
|
NM_012472.6(DNAAF11):c.436G>C (p.Asp146His)
|
rs200321595
|
0.00011
|
NM_003114.5(SPAG1):c.2014C>T (p.Gln672Ter)
|
rs201740530
|
0.00010
|
NM_181426.2(CCDC39):c.357+1G>C
|
rs397515392
|
0.00007
|
NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter)
|
rs199469707
|
0.00006
|
NM_001384732.1(CPLANE1):c.7477C>T (p.Arg2493Ter)
|
rs139675596
|
0.00006
|
NM_080860.4(RSPH1):c.85G>T (p.Glu29Ter)
|
rs138320978
|
0.00006
|
NM_001384732.1(CPLANE1):c.8872C>T (p.Arg2958Ter)
|
rs141507441
|
0.00004
|
NM_023036.6(DNAI2):c.787C>T (p.Arg263Ter)
|
rs137852998
|
0.00004
|
NM_001010892.3(RSPH4A):c.1468C>T (p.Arg490Ter)
|
rs118204043
|
0.00002
|
NM_001010892.3(RSPH4A):c.460C>T (p.Gln154Ter)
|
rs118204041
|
0.00002
|
NM_001384732.1(CPLANE1):c.4006C>T (p.Arg1336Trp)
|
rs367543061
|
0.00002
|
NM_001384732.1(CPLANE1):c.4804C>T (p.Arg1602Ter)
|
rs367543063
|
0.00002
|
NM_016616.5(NME8):c.1277T>A (p.Leu426Ter)
|
rs121918300
|
0.00002
|
NM_178452.6(DNAAF1):c.811C>T (p.Arg271Ter)
|
rs267607225
|
0.00002
|
NM_001010892.3(RSPH4A):c.325C>T (p.Gln109Ter)
|
rs118204042
|
0.00001
|
NM_001195305.3(BBIP1):c.173T>G (p.Leu58Ter)
|
rs515726134
|
0.00001
|
NM_001369.3(DNAH5):c.1730G>C (p.Arg577Thr)
|
rs397515541
|
0.00001
|
NM_001369.3(DNAH5):c.4348C>T (p.Gln1450Ter)
|
rs771663107
|
0.00001
|
NM_001384732.1(CPLANE1):c.7400+1G>A
|
rs367543062
|
0.00001
|
NM_012472.6(DNAAF11):c.220G>C (p.Ala74Pro)
|
rs397514596
|
0.00001
|
NM_012472.6(DNAAF11):c.598_599del (p.Lys200fs)
|
rs397515424
|
0.00001
|
NM_015512.5(DNAH1):c.3460A>C (p.Lys1154Gln)
|
rs544674332
|
0.00001
|
NM_020347.4(LZTFL1):c.778G>T (p.Glu260Ter)
|
rs515726136
|
0.00001
|
NM_033028.5(BBS4):c.17T>C (p.Val6Ala)
|
rs113994185
|
0.00001
|
NM_033028.5(BBS4):c.18C>T (p.Val6=)
|
rs113994187
|
0.00001
|
NM_033028.5(BBS4):c.20C>T (p.Ala7Val)
|
rs113994186
|
0.00001
|
NM_033028.5(BBS4):c.42A>G (p.Val14=)
|
rs113994181
|
0.00001
|
NM_033028.5(BBS4):c.91A>G (p.Ile31Val)
|
rs113994182
|
0.00001
|
NC_000008.11:g.100151617_100163589del
|
|
|
NM_001010892.3(RSPH4A):c.166dup (p.Arg56fs)
|
rs797045147
|
|
NM_001010892.3(RSPH4A):c.921+3_921+6del
|
rs869320683
|
|
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu)
|
rs201108965
|
|
NM_001277115.2(DNAH11):c.8533C>T (p.Arg2845Ter)
|
rs121908854
|
|
NM_001382391.1(CSPP1):c.255_256del (p.His85fs)
|
rs1554562278
|
|
NM_001384732.1(CPLANE1):c.6354dup (p.Ile2119fs)
|
rs1188561908
|
|
NM_001384732.1(CPLANE1):c.6407del (p.Pro2136fs)
|
rs367543064
|
|
NM_001394148.2(LOC128706665):c.-56_-47dup
|
rs16996729
|
|
NM_003114.5(SPAG1):c.902_906del (p.Lys301fs)
|
rs797045149
|
|
NM_003611.2:c.2388+1G>C
|
|
|
NM_003611.3(OFD1):c.2126_2129dup (p.Asn711fs)
|
rs312262890
|
|
NM_012144.4(DNAI1):c.2001+1G>A
|
rs397515563
|
|
NM_012472.6(DNAAF11):c.574C>T (p.Gln192Ter)
|
rs141945265
|
|
NM_012472.6(DNAAF11):c.576dup (p.Glu193fs)
|
rs397515425
|
|
NM_012472.6(DNAAF11):c.630del (p.Trp210fs)
|
rs760123202
|
|
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del)
|
rs754279998
|
|
NM_017802.4(DNAAF5):c.2384T>C (p.Leu795Pro)
|
rs397514561
|
|
NM_017950.4(CCDC40):c.2824_2825insTGT (p.Arg942delinsMetTrp)
|
rs587778819
|
|
NM_018076.5(ODAD2):c.2780T>G (p.Leu927Trp)
|
rs587777047
|
|
NM_018139.3(DNAAF2):c.1199_1214dup (p.Gly406fs)
|
rs397515341
|
|
NM_018139.3(DNAAF2):c.23C>A (p.Ser8Ter)
|
rs137853191
|
|
NM_018139.3(DNAAF2):c.31del (p.Glu11fs)
|
rs797045146
|
|
NM_020347.4(LZTFL1):c.260T>C (p.Leu87Pro)
|
rs515726135
|
|
NM_024649.5(BBS1):c.-3_37del (p.Met1fs)
|
rs113994178
|
|
NM_024649.5(BBS1):c.1340-2A>G
|
rs113994180
|
|
NM_024649.5(BBS1):c.831-3C>G
|
rs113994179
|
|
NM_031427.4(DNAL1):c.449A>G (p.Asn150Ser)
|
rs387907021
|
|
NM_033028.5(BBS4):c.-17C>A
|
rs56368716
|
|
NM_033028.5(BBS4):c.-6G>A
|
rs367543011
|
|
NM_033028.5(BBS4):c.157-2A>G
|
rs113994192
|
|
NM_033028.5(BBS4):c.220+1G>C
|
rs113994190
|
|
NM_033028.5(BBS4):c.28dup (p.Thr10fs)
|
rs113994184
|
|
NM_033028.5(BBS4):c.406-2A>C
|
rs113994191
|
|
NM_033028.5(BBS4):c.77-216del
|
rs113994189
|
|
NM_033028.5(BBS4):c.8A>C (p.Glu3Ala)
|
rs113994183
|
|
NM_080860.4(RSPH1):c.407_410del (p.Lys136fs)
|
rs587777059
|
|
NM_145045.5(ODAD3):c.1256C>A (p.Ser419Ter)
|
rs587777780
|
|
NM_145045.5(ODAD3):c.925G>T (p.Glu309Ter)
|
rs587777779
|
|
NM_170784.3(MKKS):c.431_441del (p.Phe144fs)
|
rs113994195
|
|
NM_170784.3(MKKS):c.873_876dup (p.Cys293fs)
|
rs113994196
|
|
NM_178452.6(DNAAF1):c.124+1536_353-2102del
|
|
|
NM_178452.6(DNAAF1):c.1349dup (p.Pro451fs)
|
rs397515339
|
|
NM_178452.6(DNAAF1):c.524T>G (p.Leu175Arg)
|
rs267607227
|
|
NM_181426.2(CCDC39):c.1072del (p.Thr358fs)
|
rs587778822
|
|
NM_181426.2(CCDC39):c.2190del (p.Glu731fs)
|
rs587778820
|
|
NM_181426.2(CCDC39):c.2357_2359delinsT (p.Ser786fs)
|
rs587778821
|
|