NM_001384732.1(CPLANE1):c.81+20=
|
rs6876576
|
0.99994
|
NM_001352754.2(ARMC9):c.538A>G (p.Ile180Val)
|
rs1626450
|
0.99989
|
NM_016169.4(SUFU):c.*20T>G
|
rs4917980
|
0.99823
|
NM_004311.4(ARL3):c.264+49_264+50del
|
rs59504153
|
0.99810
|
NM_001329943.3(KIAA0586):c.1119G>A (p.Ser373=)
|
rs1748971
|
0.99666
|
NM_001329943.3(KIAA0586):c.3166C>G (p.Pro1056Ala)
|
rs1617510
|
0.97670
|
NM_001329943.3(KIAA0586):c.1254-25G>A
|
rs1743721
|
0.97577
|
NM_001329943.3(KIAA0586):c.2254+25A>G
|
rs1743716
|
0.97575
|
NM_001329943.3(KIAA0586):c.2528T>C (p.Leu843Pro)
|
rs1748986
|
0.97574
|
NM_001378615.1(CC2D2A):c.4065+28A>T
|
rs6832789
|
0.95451
|
NM_025114.4(CEP290):c.6645+67G>A
|
rs2471512
|
0.92687
|
NM_014704.4(CEP104):c.1836+7A>G
|
rs6413779
|
0.91575
|
NM_014704.4(CEP104):c.744A>G (p.Glu248=)
|
rs1891941
|
0.91572
|
NM_014704.4(CEP104):c.1837-28G>C
|
rs2275826
|
0.91566
|
NM_025114.4(CEP290):c.853-12_853-11insG
|
rs71082425
|
0.87640
|
NM_001378615.1(CC2D2A):c.247+26A>G
|
rs10000250
|
0.85216
|
NM_001173990.3(TMEM216):c.264G>A (p.Pro88=)
|
rs3741265
|
0.84043
|
NM_001134831.2(AHI1):c.1780-14C>T
|
rs2757645
|
0.81825
|
NM_015272.5(RPGRIP1L):c.1104-82C>T
|
rs4133017
|
0.80982
|
NM_025114.4(CEP290):c.2818-50G>C
|
rs2471532
|
0.76931
|
NM_001378615.1(CC2D2A):c.1764+45T>G
|
rs1558572
|
0.75139
|
NM_001134831.2(AHI1):c.10+115C>A
|
rs9402709
|
0.73311
|
NM_001375405.1(CEP120):c.2826T>C (p.Asp942=)
|
rs1047438
|
0.71935
|
NM_001378615.1(CC2D2A):c.3183-8T>C
|
rs13121363
|
0.69106
|
NM_001378615.1(CC2D2A):c.3595-55C>G
|
rs4280723
|
0.69017
|
NM_001378615.1(CC2D2A):c.3288+41A>C
|
rs13116304
|
0.68417
|
NM_016169.4(SUFU):c.1365+19T>C
|
rs12414407
|
0.68248
|
NM_014704.4(CEP104):c.2151+43A>G
|
rs2275832
|
0.67501
|
NM_014704.4(CEP104):c.2662+62A>G
|
rs6703035
|
0.67052
|
NM_153704.6(TMEM67):c.1066-3C>T
|
rs3097427
|
0.65135
|
NM_014704.4(CEP104):c.2663-91G>A
|
rs4233019
|
0.65061
|
NM_014704.4(CEP104):c.2663-22A>G
|
rs4648409
|
0.65055
|
NM_001044385.3(TMEM237):c.274+23A>G
|
rs1208081
|
0.64988
|
NM_153704.6(TMEM67):c.1810A>G (p.Ile604Val)
|
rs3134031
|
0.64845
|
NM_014804.3(KIAA0753):c.*21A>G
|
rs3744720
|
0.64487
|
NM_014804.3(KIAA0753):c.2687A>G (p.Gln896Arg)
|
rs1443417
|
0.64459
|
NM_014804.3(KIAA0753):c.1397T>C (p.Leu466Pro)
|
rs2289642
|
0.64436
|
NM_014804.3(KIAA0753):c.1716T>C (p.Ala572=)
|
rs4796519
|
0.61864
|
NM_001134831.2(AHI1):c.3426+13G>A
|
rs6914831
|
0.59084
|
NM_015681.6(B9D1):c.472+28C>T
|
rs4924987
|
0.57381
|
NM_001378615.1(CC2D2A):c.*21G>C
|
rs1134634
|
0.57021
|
NM_015681.6(B9D1):c.63+23G>A
|
rs10445411
|
0.56182
|
NM_024809.5(TCTN2):c.1128T>C (p.Pro376=)
|
rs7966867
|
0.54127
|
NM_017777.4(MKS1):c.858+9A>G
|
rs3826300
|
0.53797
|
NM_017777.4(MKS1):c.750-105T>C
|
rs3744105
|
0.53777
|
NM_001378615.1(CC2D2A):c.1765-24A>G
|
rs1861044
|
0.52969
|
NM_024809.5(TCTN2):c.1099+19T>C
|
rs7137946
|
0.50815
|
NM_024809.5(TCTN2):c.891+22T>C
|
rs7302449
|
0.50676
|
NM_014804.3(KIAA0753):c.1330G>A (p.Asp444Asn)
|
rs2289643
|
0.49475
|
NM_016169.4(SUFU):c.182+16C>T
|
rs2274351
|
0.46492
|
NM_001375405.1(CEP120):c.816C>T (p.His272=)
|
rs6876883
|
0.44294
|
NM_019892.6(INPP5E):c.1248T>C (p.Thr416=)
|
rs10781542
|
0.42574
|
NM_019892.6(INPP5E):c.1284T>C (p.Gly428=)
|
rs10870194
|
0.42571
|
NM_015272.5(RPGRIP1L):c.2959-32G>A
|
rs7203525
|
0.39281
|
NM_018718.3(CEP41):c.-5A>C
|
rs2287371
|
0.39010
|
NM_014704.4(CEP104):c.2152-11C>T
|
rs6663840
|
0.38899
|
NM_014804.3(KIAA0753):c.69C>T (p.Ser23=)
|
rs2301873
|
0.38122
|
NM_001128178.3(NPHP1):c.654G>A (p.Glu218=)
|
rs11675767
|
0.38033
|
NM_015272.5(RPGRIP1L):c.*55T>A
|
rs4784319
|
0.37955
|
NM_017777.4(MKS1):c.261+67A>G
|
rs7225148
|
0.34782
|
NM_014704.4(CEP104):c.1240T>A (p.Leu414Ile)
|
rs2275824
|
0.32901
|
NM_014804.3(KIAA0753):c.1125A>T (p.Glu375Asp)
|
rs9889363
|
0.32226
|
NM_006346.4(PIBF1):c.499A>G (p.Ile167Val)
|
rs1372000
|
0.31812
|
NM_014804.3(KIAA0753):c.1697C>T (p.Pro566Leu)
|
rs2304977
|
0.28533
|
NM_003611.3(OFD1):c.1129+16A>G
|
rs3815049
|
0.28069
|
NM_015631.6(TCTN3):c.1204-43T>C
|
rs17461546
|
0.27142
|
NM_001378615.1(CC2D2A):c.3595-22C>T
|
rs4280724
|
0.26375
|
NM_015272.5(RPGRIP1L):c.1401+127A>G
|
rs7192060
|
0.22379
|
NM_015631.6(TCTN3):c.1453-28A>G
|
rs12784530
|
0.21461
|
NM_001378615.1(CC2D2A):c.3201G>A (p.Ser1067=)
|
rs73125627
|
0.20422
|
NM_015272.5(RPGRIP1L):c.3432+67G>A
|
rs113961478
|
0.19784
|
NM_006346.4(PIBF1):c.672+38G>A
|
rs9543124
|
0.14429
|
NM_015272.5(RPGRIP1L):c.3428C>G (p.Thr1143Ser)
|
rs111775292
|
0.14328
|
NM_001378615.1(CC2D2A):c.2182-24C>T
|
rs2041673
|
0.13698
|
NM_001378615.1(CC2D2A):c.2830-38G>T
|
rs35309200
|
0.12892
|
NM_015272.5(RPGRIP1L):c.3936C>T (p.Asp1312=)
|
rs4784320
|
0.10935
|
NM_015272.5(RPGRIP1L):c.3073G>A (p.Gly1025Ser)
|
rs2111119
|
0.10881
|
NM_019892.6(INPP5E):c.972A>G (p.Pro324=)
|
rs10870199
|
0.10324
|
NM_017777.4(MKS1):c.1024+128C>T
|
rs72839966
|
0.08242
|
NM_017777.4(MKS1):c.191-44G>A
|
rs73329636
|
0.06658
|
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr)
|
rs61747071
|
0.04969
|
NM_015272.5(RPGRIP1L):c.530-29G>A
|
rs74393433
|
0.04932
|
NM_015272.5(RPGRIP1L):c.3790G>A (p.Asp1264Asn)
|
rs3213758
|
0.04663
|
NM_015272.5(RPGRIP1L):c.2231G>A (p.Arg744Gln)
|
rs2302677
|
0.02738
|
NM_015272.5(RPGRIP1L):c.1341G>A (p.Leu447=)
|
rs61743997
|
0.02188
|
NM_001173990.3(TMEM216):c.35-17C>T
|
rs147953784
|
0.00450
|
NM_001134831.2(AHI1):c.2037-77G>A
|
rs737561
|
|
NM_001173990.3(TMEM216):c.432-1G>C
|
rs10897158
|
|
NM_001173990.3:c.432-11_432-10insA
|
|
|
NM_001321218.2(B9D1):c.*61C>T
|
rs11652712
|
|
NM_001329943.3(KIAA0586):c.3305-8dup
|
rs5808973
|
|
NM_001352754.2(ARMC9):c.2205dup (p.Thr736fs)
|
rs35889244
|
|
NM_001378615.1(CC2D2A):c.40-122A>C
|
rs9993580
|
|
NM_003611.3(OFD1):c.1412-11del
|
rs36052228
|
|
NM_014704.4(CEP104):c.558G>A (p.Thr186=)
|
rs2275822
|
|
NM_014804.3(KIAA0753):c.507T>C (p.Ser169=)
|
rs2072149
|
|
NM_019892.6(INPP5E):c.1521C>T (p.His507=)
|
rs10870188
|
|
NM_019892.6(INPP5E):c.1791G>A (p.Pro597=)
|
rs10870182
|
|
NM_019892.6(INPP5E):c.812+7_812+10del
|
rs5901103
|
|
NM_025114.4(CEP290):c.2268A>G (p.Ser756=)
|
rs2468255
|
|
NM_025114.4(CEP290):c.3574-9del
|
rs10717563
|
|
NM_025114.4(CEP290):c.6522+5dup
|
rs11405846
|
|