NM_025114.4(CEP290):c.853-12_853-11insG
|
rs71082425
|
0.87640
|
NM_001173990.3(TMEM216):c.432-11_432-10insA
|
rs11382548
|
0.83974
|
NM_017777.4(MKS1):c.858+9A>G
|
rs3826300
|
0.53797
|
NM_153240.4(NPHP3):c.-69A>G
|
rs13099099
|
0.49619
|
NM_012463.3(ATP6V0A2):c.-222C>G
|
rs71458814
|
0.36518
|
NM_012463.4(ATP6V0A2):c.-14C>T
|
rs1139320
|
0.36505
|
NM_017777.4(MKS1):c.*75C>T
|
rs35184412
|
0.08455
|
NM_017777.4(MKS1):c.*414C>T
|
rs2302313
|
0.08215
|
NM_017777.4(MKS1):c.1671G>C (p.Leu557=)
|
rs11548967
|
0.06374
|
NM_017777.4(MKS1):c.*472C>G
|
rs17174788
|
0.04345
|
NM_001080432.3(FTO):c.18T>C (p.Thr6=)
|
rs73609956
|
0.02787
|
NM_017777.4(MKS1):c.1273+11G>A
|
rs16942826
|
0.01295
|
NM_017777.4(MKS1):c.-18C>G
|
rs116514023
|
0.01231
|
NM_024809.5(TCTN2):c.*45G>A
|
rs142969969
|
0.01053
|
NM_017777.4(MKS1):c.*322G>T
|
rs185405908
|
0.00571
|
NM_017777.4(MKS1):c.1436G>A (p.Arg479His)
|
rs111315726
|
0.00476
|
NM_017777.3(MKS1):c.-64T>C
|
rs372127517
|
0.00325
|
NM_017777.4(MKS1):c.213C>G (p.Asp71Glu)
|
rs142813109
|
0.00303
|
NM_017777.4(MKS1):c.1388G>A (p.Arg463Gln)
|
rs201619500
|
0.00235
|
NM_017777.4(MKS1):c.1349T>C (p.Ile450Thr)
|
rs200865108
|
0.00157
|
NM_017777.4(MKS1):c.27C>T (p.Asp9=)
|
rs369488349
|
0.00086
|
NM_017777.4(MKS1):c.857A>G (p.Asp286Gly)
|
rs151023718
|
0.00083
|
NM_153240.4(NPHP3):c.-70C>T
|
rs886058006
|
0.00056
|
NM_017777.4(MKS1):c.1498A>G (p.Met500Val)
|
rs144635826
|
0.00054
|
NM_017777.4(MKS1):c.*134C>T
|
rs34224064
|
0.00041
|
NM_017777.4(MKS1):c.544G>A (p.Val182Ile)
|
rs200185068
|
0.00041
|
NM_017777.4(MKS1):c.515+12C>T
|
rs372527189
|
0.00036
|
NM_017777.4(MKS1):c.368G>A (p.Arg123Gln)
|
rs202112856
|
0.00029
|
NM_001378615.1(CC2D2A):c.501G>T (p.Lys167Asn)
|
rs190694237
|
0.00026
|
NM_017777.4(MKS1):c.644+8G>T
|
rs370117125
|
0.00022
|
NM_017777.4(MKS1):c.*603T>G
|
rs578200260
|
0.00021
|
NM_017777.4(MKS1):c.-15C>G
|
rs541448010
|
0.00021
|
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val)
|
rs201502401
|
0.00020
|
NM_017777.4(MKS1):c.491G>A (p.Arg164His)
|
rs200149256
|
0.00018
|
NM_017777.4(MKS1):c.417G>A (p.Glu139=)
|
rs386834048
|
0.00014
|
NM_153240.5(NPHP3):c.1813C>T (p.Arg605Cys)
|
rs144731534
|
0.00014
|
NM_017777.4(MKS1):c.1640C>T (p.Pro547Leu)
|
rs771585740
|
0.00009
|
NM_153240.5(NPHP3):c.*231A>T
|
rs753577987
|
0.00007
|
NM_015272.5(RPGRIP1L):c.*901A>G
|
rs750903762
|
0.00006
|
NM_017777.4(MKS1):c.10A>T (p.Thr4Ser)
|
rs928775924
|
0.00006
|
NM_017777.4(MKS1):c.729G>A (p.Thr243=)
|
rs373491923
|
0.00006
|
NM_153240.5(NPHP3):c.233G>T (p.Gly78Val)
|
rs202142404
|
0.00006
|
NM_017777.4(MKS1):c.*49C>A
|
rs371962780
|
0.00005
|
NM_017777.4(MKS1):c.1506G>A (p.Ser502=)
|
rs368535131
|
0.00005
|
NM_017777.4(MKS1):c.498G>T (p.Arg166=)
|
rs778956664
|
0.00005
|
NM_017777.4(MKS1):c.*415G>A
|
rs750194631
|
0.00004
|
NM_017777.4(MKS1):c.*469C>T
|
rs386465709
|
0.00004
|
NM_017777.4(MKS1):c.*594T>G
|
rs371037402
|
0.00004
|
NM_017777.4(MKS1):c.1014G>A (p.Leu338=)
|
rs201998680
|
0.00004
|
NM_015272.5(RPGRIP1L):c.3362C>T (p.Pro1121Leu)
|
rs886052093
|
0.00003
|
NM_017777.4(MKS1):c.*381A>G
|
rs886053168
|
0.00003
|
NM_017777.4(MKS1):c.1322C>T (p.Thr441Met)
|
rs367625961
|
0.00003
|
NM_017777.4(MKS1):c.1408-15A>G
|
rs762989365
|
0.00003
|
NM_017777.4(MKS1):c.1543C>T (p.Arg515Cys)
|
rs775558298
|
0.00003
|
NM_017777.4(MKS1):c.813C>T (p.His271=)
|
rs201961765
|
0.00003
|
NM_017777.4(MKS1):c.1273+12T>A
|
rs762439479
|
0.00002
|
NM_017777.4(MKS1):c.493C>T (p.Arg165Cys)
|
rs779953982
|
0.00002
|
NM_017777.4(MKS1):c.538C>T (p.Arg180Cys)
|
rs559966703
|
0.00002
|
NM_001378615.1(CC2D2A):c.2486+8A>G
|
rs749186859
|
0.00001
|
NM_017777.4(MKS1):c.102A>G (p.Thr34=)
|
rs886053171
|
0.00001
|
NM_017777.4(MKS1):c.1209G>A (p.Ser403=)
|
rs770493819
|
0.00001
|
NM_017777.4(MKS1):c.1589-3C>T
|
rs752901746
|
0.00001
|
NM_017777.4(MKS1):c.214G>A (p.Glu72Lys)
|
rs753620277
|
0.00001
|
NM_017777.4(MKS1):c.447C>T (p.Ser149=)
|
rs750376903
|
0.00001
|
NM_001009894.3(RLIG1):c.*618TATT[1]
|
rs886049876
|
|
NM_001009894.3(RLIG1):c.*743_*746del
|
rs142288119
|
|
NM_001142301.1(TMEM67):c.-207del
|
rs145334032
|
|
NM_001173990.3(TMEM216):c.230-9G>A
|
rs886048412
|
|
NM_001378615.1(CC2D2A):c.2339-10_2339-9del
|
rs886059157
|
|
NM_001378615.1(CC2D2A):c.3365C>G (p.Pro1122Arg)
|
rs886059182
|
|
NM_001378615.1(CC2D2A):c.676GAA[3] (p.Glu229del)
|
rs386833764
|
|
NM_015272.5(RPGRIP1L):c.3617-13dup
|
rs750499169
|
|
NM_017777.4(MKS1):c.-20C>G
|
rs115507363
|
|
NM_017777.4(MKS1):c.1253T>C (p.Val418Ala)
|
rs886053169
|
|
NM_017777.4(MKS1):c.1273+4A>G
|
rs948397956
|
|
NM_017777.4(MKS1):c.1598G>A (p.Arg533His)
|
rs779093781
|
|
NM_017777.4(MKS1):c.263T>C (p.Phe88Ser)
|
rs886053170
|
|
NM_017777.4(MKS1):c.407A>C (p.Asn136Thr)
|
rs1969184476
|
|
NM_017777.4(MKS1):c.729G>T (p.Thr243=)
|
rs373491923
|
|
NM_017777.4(MKS1):c.763G>T (p.Gly255Trp)
|
rs201237547
|
|
NM_017777.4(MKS1):c.80+14C>G
|
rs761061379
|
|
NM_017777.4(MKS1):c.813C>A (p.His271Gln)
|
rs201961765
|
|
NM_024809.5(TCTN2):c.*330_*331insACTC
|
rs56918215
|
|
NM_024809.5(TCTN2):c.671C>T (p.Thr224Met)
|
rs376996387
|
|
NM_025114.4(CEP290):c.2484-18GTTTT[4]
|
rs745522483
|
|
NM_025114.4(CEP290):c.3309+2_3309+3dup
|
rs886049881
|
|
NM_025114.4(CEP290):c.3574-9del
|
rs10717563
|
|
NM_025114.4(CEP290):c.442-11del
|
rs199511358
|
|
NM_025114.4(CEP290):c.442-22_442-21dup
|
rs199511358
|
|
NM_025114.4(CEP290):c.442-22dup
|
rs199511358
|
|
NM_025114.4(CEP290):c.5227-14del
|
rs747878752
|
|
NM_025114.4(CEP290):c.6522+5dup
|
rs11405846
|
|
NM_025114.4(CEP290):c.7209+11_7209+14del
|
rs750259100
|
|
NM_153240.5(NPHP3):c.*121_*123del
|
rs371974858
|
|
NM_153240.5(NPHP3):c.*650_*651del
|
rs886058000
|
|
NM_153240.5(NPHP3):c.*652_*653del
|
rs886057999
|
|
NM_153240.5(NPHP3):c.*652del
|
rs369921629
|
|
NM_153240.5(NPHP3):c.*654dup
|
rs886057998
|
|
NM_153240.5(NPHP3):c.1525-5del
|
rs762115717
|
|
NM_153240.5(NPHP3):c.3125+7dup
|
rs11396595
|
|
NM_153240.5(NPHP3):c.3126-12dup
|
rs398124547
|
|
NM_153240.5(NPHP3):c.913A>G (p.Ile305Val)
|
rs886058004
|
|
NM_153704.6(TMEM67):c.119CTTTCC[3] (p.Pro42_Phe43dup)
|
rs886063171
|
|