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_153240.4(NPHP3):c.-69A>G
|
rs13099099
|
0.49619
|
NM_012463.3(ATP6V0A2):c.-222C>G
|
rs71458814
|
0.35815
|
NM_012463.4(ATP6V0A2):c.-14C>T
|
rs1139320
|
0.35815
|
NM_001080432.3(FTO):c.18T>C (p.Thr6=)
|
rs73609956
|
0.02787
|
NM_024809.5(TCTN2):c.*45G>A
|
rs142969969
|
0.01033
|
NM_183065.4(TMEM107):c.*759C>T
|
rs201787275
|
0.00162
|
NM_001378615.1(CC2D2A):c.2804G>A (p.Arg935Gln)
|
rs187003641
|
0.00142
|
NM_153240.4(NPHP3):c.-70C>T
|
rs886058006
|
0.00055
|
NM_001378615.1(CC2D2A):c.501G>T (p.Lys167Asn)
|
rs190694237
|
0.00038
|
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_025114.4(CEP290):c.3442C>G (p.Leu1148Val)
|
rs372190684
|
0.00013
|
NM_015272.5(RPGRIP1L):c.*901A>G
|
rs750903762
|
0.00008
|
NM_153240.5(NPHP3):c.*231A>T
|
rs753577987
|
0.00007
|
NM_001378615.1(CC2D2A):c.394C>T (p.Arg132Ter)
|
rs377177061
|
0.00006
|
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)
|
rs137852832
|
0.00006
|
NM_153240.5(NPHP3):c.233G>T (p.Gly78Val)
|
rs202142404
|
0.00006
|
NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter)
|
rs121918203
|
0.00005
|
NM_001077418.3(TMEM231):c.664G>A (p.Val222Ile)
|
rs397514753
|
0.00004
|
NM_001310135.5(TTC6):c.3274C>T (p.Arg1092Ter)
|
rs781407244
|
0.00004
|
NM_001329943.3(KIAA0586):c.2407T>G (p.Ser803Ala)
|
rs886039806
|
0.00003
|
NM_001378615.1(CC2D2A):c.4407C>G (p.Ser1469Arg)
|
rs587779732
|
0.00003
|
NM_015272.5(RPGRIP1L):c.3362C>T (p.Pro1121Leu)
|
rs886052093
|
0.00003
|
NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser)
|
rs386834180
|
0.00003
|
NM_153704.6(TMEM67):c.514C>T (p.Arg172Ter)
|
rs765468645
|
0.00002
|
NM_153704.6(TMEM67):c.748G>A (p.Gly250Arg)
|
rs587779736
|
0.00002
|
NR_033294.2(SNORD118):n.61A>G
|
rs750457525
|
0.00002
|
NM_001378615.1(CC2D2A):c.2486+8A>G
|
rs749186859
|
0.00001
|
NM_001378615.1(CC2D2A):c.4384T>C (p.Trp1462Arg)
|
rs368720062
|
0.00001
|
NM_017777.4(MKS1):c.110A>G (p.Asn37Ser)
|
rs587779734
|
0.00001
|
NM_017777.4(MKS1):c.214G>A (p.Glu72Lys)
|
rs753620277
|
0.00001
|
NM_021807.4(EXOC4):c.1733A>G (p.Gln578Arg)
|
rs730882233
|
0.00001
|
NM_024715.4(TXNDC15):c.844C>T (p.Arg282Ter)
|
rs768237094
|
0.00001
|
NM_198276.3(TMEM17):c.280C>T (p.Arg94Trp)
|
rs778888021
|
0.00001
|
NC_000019.10:g.45227673dup
|
rs886039793
|
|
NM_001044385.3(TMEM237):c.869+1G>A
|
rs730882231
|
|
NM_001142301.1(TMEM67):c.-207del
|
rs145334032
|
|
NM_001164310.3(CIMIP2B):c.*12_*13insTAAG
|
rs1822209511
|
|
NM_001173990.3(TMEM216):c.230-9G>A
|
rs886048412
|
|
NM_001378615.1(CC2D2A):c.1538G>A (p.Trp513Ter)
|
rs2109029867
|
|
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.3626del (p.Pro1209fs)
|
rs2109077865
|
|
NM_001378615.1(CC2D2A):c.4179+1del
|
rs386833760
|
|
NM_001378615.1(CC2D2A):c.676GAA[3] (p.Glu229del)
|
rs386833764
|
|
NM_001382391.1(CSPP1):c.2259_2262del (p.Glu755fs)
|
rs587777145
|
|
NM_015272.5(RPGRIP1L):c.3617-13dup
|
rs750499169
|
|
NM_015681.6(B9D1):c.285_341+154del
|
rs1598057395
|
|
NM_016464.5(TMEM138):c.134A>G (p.Gln45Arg)
|
rs886039804
|
|
NM_017777.4(MKS1):c.1066C>T (p.Gln356Ter)
|
rs786205508
|
|
NM_017777.4(MKS1):c.261+2T>A
|
rs886039803
|
|
NM_024715.4(TXNDC15):c.103+1G>A
|
rs886039792
|
|
NM_024715.4(TXNDC15):c.304G>C (p.Glu102Gln)
|
rs1580863801
|
|
NM_024715.4(TXNDC15):c.673_687del (p.Ser225_His229del)
|
rs886039791
|
|
NM_024809.5(TCTN2):c.*330_*331insACTC
|
rs56918215
|
|
NM_024809.5(TCTN2):c.671C>T (p.Thr224Met)
|
rs376996387
|
|
NM_025114.4(CEP290):c.*139TAAA[1]
|
rs886049876
|
|
NM_025114.4(CEP290):c.*19_*22del
|
rs142288119
|
|
NM_025114.4(CEP290):c.2484-18GTTTT[4]
|
rs745522483
|
|
NM_025114.4(CEP290):c.3175dup (p.Ile1059fs)
|
rs62640570
|
|
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.4621del (p.Thr1541fs)
|
rs587779733
|
|
NM_025114.4(CEP290):c.5227-14del
|
rs747878752
|
|
NM_025114.4(CEP290):c.6522+5dup
|
rs11405846
|
|
NM_025114.4(CEP290):c.673_674del (p.Leu225fs)
|
rs886039805
|
|
NM_025114.4(CEP290):c.7209+11_7209+14del
|
rs750259100
|
|
NM_033395.2(CEP295):c.2603del (p.Gln868fs)
|
rs1951904805
|
|
NM_147127.5(EVC2):c.3870_3893dup (p.Lys1293_Lys1300dup)
|
rs730882232
|
|
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
|
|
NM_183065.4(TMEM107):c.*760G>T
|
rs116395281
|
|
NM_198515.3(CCDC172):c.294_297del (p.Lys98fs)
|
rs777108726
|
|