NM_019892.6(INPP5E):c.623C>T (p.Thr208Ile)
|
rs143107549
|
0.00177
|
NM_006346.4(PIBF1):c.1793T>G (p.Leu598Arg)
|
rs143644781
|
0.00172
|
NM_001134831.2(AHI1):c.986G>T (p.Arg329Leu)
|
rs139944375
|
0.00111
|
NM_001128178.3(NPHP1):c.953C>T (p.Thr318Ile)
|
rs140469160
|
0.00088
|
NM_001384732.1(CPLANE1):c.8462-1G>C
|
rs151279194
|
0.00060
|
NM_001378615.1(CC2D2A):c.3046G>A (p.Glu1016Lys)
|
rs373960465
|
0.00053
|
NM_001384732.1(CPLANE1):c.4460G>A (p.Ser1487Asn)
|
rs138157520
|
0.00053
|
NM_001384732.1(CPLANE1):c.6328A>G (p.Asn2110Asp)
|
rs139528477
|
0.00053
|
NM_001375405.1(CEP120):c.1119G>C (p.Lys373Asn)
|
rs201571160
|
0.00047
|
NM_001382391.1(CSPP1):c.1987A>G (p.Arg663Gly)
|
rs199996939
|
0.00034
|
NM_019892.6(INPP5E):c.1360G>A (p.Asp454Asn)
|
rs138150684
|
0.00033
|
NM_014704.4(CEP104):c.2282G>A (p.Ser761Asn)
|
rs537512159
|
0.00029
|
NM_001128178.3(NPHP1):c.771+169G>T
|
rs150520157
|
0.00027
|
NM_001378615.1(CC2D2A):c.4852C>T (p.Arg1618Cys)
|
rs201219078
|
0.00023
|
NM_001378615.1(CC2D2A):c.2039G>A (p.Arg680His)
|
rs200236654
|
0.00021
|
NM_001044385.3(TMEM237):c.287C>T (p.Ser96Phe)
|
rs376578633
|
0.00020
|
NM_001384732.1(CPLANE1):c.1096C>T (p.Pro366Ser)
|
rs376489487
|
0.00016
|
NM_001128178.3(NPHP1):c.859G>A (p.Gly287Arg)
|
rs121907899
|
0.00013
|
NM_001378615.1(CC2D2A):c.3055C>T (p.Arg1019Ter)
|
rs370880399
|
0.00011
|
NM_001378615.1(CC2D2A):c.1837G>A (p.Glu613Lys)
|
rs201439617
|
0.00010
|
NM_001077418.3(TMEM231):c.373C>G (p.Pro125Ala)
|
rs1442638461
|
0.00009
|
NM_001384732.1(CPLANE1):c.6512G>A (p.Arg2171Gln)
|
rs377742483
|
0.00009
|
NM_001329943.3(KIAA0586):c.1254-1G>C
|
rs757350052
|
0.00008
|
NM_001375405.1(CEP120):c.612+5G>A
|
rs762000520
|
0.00008
|
NM_001382391.1(CSPP1):c.3109G>A (p.Val1037Ile)
|
rs200546493
|
0.00007
|
NM_001382391.1(CSPP1):c.2804A>G (p.Asp935Gly)
|
rs374765060
|
0.00006
|
NM_001384732.1(CPLANE1):c.9044G>A (p.Arg3015His)
|
rs771622959
|
0.00006
|
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)
|
rs137852832
|
0.00006
|
NM_001044385.3(TMEM237):c.42+1G>A
|
rs1378726802
|
0.00005
|
NM_016169.4(SUFU):c.43C>A (p.Pro15Thr)
|
rs761921681
|
0.00005
|
NM_019892.6(INPP5E):c.746C>T (p.Ser249Phe)
|
rs550485638
|
0.00005
|
NM_001382391.1(CSPP1):c.132dup (p.Lys45Ter)
|
rs770296270
|
0.00004
|
NM_001382391.1(CSPP1):c.3275C>T (p.Ser1092Leu)
|
rs768603321
|
0.00004
|
NM_001384732.1(CPLANE1):c.1270C>T (p.Arg424Ter)
|
rs755097302
|
0.00004
|
NM_001384732.1(CPLANE1):c.2645A>G (p.Tyr882Cys)
|
rs1012462823
|
0.00004
|
NM_001384732.1(CPLANE1):c.9046C>T (p.Arg3016Ter)
|
rs150242262
|
0.00004
|
NM_019892.6(INPP5E):c.510C>G (p.Asn170Lys)
|
rs778210239
|
0.00004
|
NM_001384732.1(CPLANE1):c.1745T>C (p.Ile582Thr)
|
rs1260722151
|
0.00003
|
NM_025114.4(CEP290):c.6752C>G (p.Ala2251Gly)
|
rs758864226
|
0.00003
|
NM_001128178.3(NPHP1):c.1588C>T (p.Arg530Ter)
|
rs547352656
|
0.00002
|
NM_001128178.3(NPHP1):c.729-2A>G
|
rs773781058
|
0.00002
|
NM_001128178.3(NPHP1):c.871C>T (p.Arg291Ter)
|
rs765263671
|
0.00002
|
NM_001329943.3(KIAA0586):c.768G>C (p.Arg256Ser)
|
rs757161449
|
0.00002
|
NM_001382391.1(CSPP1):c.3292C>T (p.Arg1098Trp)
|
rs759630451
|
0.00002
|
NM_001384732.1(CPLANE1):c.5557C>T (p.Gln1853Ter)
|
rs766699868
|
0.00002
|
NM_001384732.1(CPLANE1):c.8140C>T (p.Arg2714Ter)
|
rs147416429
|
0.00002
|
NM_003611.3(OFD1):c.3G>A (p.Met1Ile)
|
rs778840618
|
0.00002
|
NM_001082538.3(TCTN1):c.26_29dup (p.Val11fs)
|
rs1275375836
|
0.00001
|
NM_001128178.3(NPHP1):c.1270-1G>A
|
rs376492641
|
0.00001
|
NM_001128178.3(NPHP1):c.143+1G>C
|
rs745806504
|
0.00001
|
NM_001128178.3(NPHP1):c.1716+1G>T
|
rs1233478832
|
0.00001
|
NM_001128178.3(NPHP1):c.1886G>A (p.Trp629Ter)
|
rs1311042980
|
0.00001
|
NM_001128178.3(NPHP1):c.329+1G>A
|
rs376974221
|
0.00001
|
NM_001128178.3(NPHP1):c.643G>T (p.Glu215Ter)
|
rs753517219
|
0.00001
|
NM_001134831.2(AHI1):c.362A>G (p.Lys121Arg)
|
rs140836078
|
0.00001
|
NM_001173990.3(TMEM216):c.191del (p.Leu64fs)
|
rs1858737558
|
0.00001
|
NM_001173990.3(TMEM216):c.217C>T (p.Arg73Cys)
|
rs779526456
|
0.00001
|
NM_001352754.2(ARMC9):c.100G>T (p.Glu34Ter)
|
rs1330612935
|
0.00001
|
NM_001352754.2(ARMC9):c.1213C>T (p.Arg405Cys)
|
rs755476651
|
0.00001
|
NM_001375405.1(CEP120):c.2462A>G (p.Asn821Ser)
|
rs765442218
|
0.00001
|
NM_001384732.1(CPLANE1):c.1546G>A (p.Glu516Lys)
|
rs772553650
|
0.00001
|
NM_001384732.1(CPLANE1):c.2413G>A (p.Val805Ile)
|
rs1490492363
|
0.00001
|
NM_001384732.1(CPLANE1):c.5876A>G (p.Glu1959Gly)
|
rs1230715850
|
0.00001
|
NM_001384732.1(CPLANE1):c.977G>A (p.Ser326Asn)
|
rs1229752578
|
0.00001
|
NM_006346.4(PIBF1):c.2113C>A (p.Leu705Ile)
|
rs758859825
|
0.00001
|
NM_018718.3(CEP41):c.1004G>A (p.Arg335Lys)
|
rs782672149
|
0.00001
|
NM_018718.3(CEP41):c.1087A>G (p.Ser363Gly)
|
rs201504407
|
0.00001
|
NM_024809.5(TCTN2):c.-15C>T
|
rs575728856
|
0.00001
|
NM_025114.4(CEP290):c.4705-1G>T
|
rs777464278
|
0.00001
|
NM_153704.6(TMEM67):c.1714G>A (p.Ala572Thr)
|
rs1281778614
|
0.00001
|
NM_153704.6(TMEM67):c.1769T>C (p.Phe590Ser)
|
rs267607115
|
0.00001
|
NM_001044385.3(TMEM237):c.869+1G>A
|
rs730882231
|
|
NM_001077418.3(TMEM231):c.140-33C>G
|
rs901311435
|
|
NM_001077418.3(TMEM231):c.248G>A (p.Trp83Ter)
|
rs2080804101
|
|
NM_001077418.3(TMEM231):c.377T>C (p.Leu126Pro)
|
rs1348700844
|
|
NM_001082538.3(TCTN1):c.1279G>A (p.Val427Ile)
|
rs560599144
|
|
NM_001082538.3(TCTN1):c.342-2A>G
|
rs730882221
|
|
NM_001128178.3(NPHP1):c.1064_1067del (p.Cys355fs)
|
|
|
NM_001128178.3(NPHP1):c.1083+1G>A
|
|
|
NM_001128178.3(NPHP1):c.1084-2A>C
|
|
|
NM_001128178.3(NPHP1):c.1157del (p.Gln386fs)
|
|
|
NM_001128178.3(NPHP1):c.1190del (p.Gly397fs)
|
|
|
NM_001128178.3(NPHP1):c.1270-2A>G
|
|
|
NM_001128178.3(NPHP1):c.1271C>G (p.Ser424Ter)
|
|
|
NM_001128178.3(NPHP1):c.127C>T (p.Gln43Ter)
|
|
|
NM_001128178.3(NPHP1):c.1305G>A (p.Trp435Ter)
|
|
|
NM_001128178.3(NPHP1):c.1323del (p.Phe441fs)
|
|
|
NM_001128178.3(NPHP1):c.1352+2T>G
|
|
|
NM_001128178.3(NPHP1):c.1379dup (p.Thr461fs)
|
rs2104483923
|
|
NM_001128178.3(NPHP1):c.139C>T (p.Gln47Ter)
|
|
|
NM_001128178.3(NPHP1):c.141_143+40del
|
|
|
NM_001128178.3(NPHP1):c.1431_1432insTACCA (p.His478fs)
|
|
|
NM_001128178.3(NPHP1):c.144-1G>A
|
|
|
NM_001128178.3(NPHP1):c.151C>T (p.Gln51Ter)
|
|
|
NM_001128178.3(NPHP1):c.1551del (p.Ile517fs)
|
rs1017750255
|
|
NM_001128178.3(NPHP1):c.1643-1G>C
|
|
|
NM_001128178.3(NPHP1):c.1643-2A>G
|
|
|
NM_001128178.3(NPHP1):c.1708G>A (p.Ala570Thr)
|
rs372893275
|
|
NM_001128178.3(NPHP1):c.1717-1dup
|
|
|
NM_001128178.3(NPHP1):c.1724G>A (p.Trp575Ter)
|
|
|
NM_001128178.3(NPHP1):c.1767_1770del (p.Asp589fs)
|
|
|
NM_001128178.3(NPHP1):c.1897_1906del (p.Thr633fs)
|
|
|
NM_001128178.3(NPHP1):c.1933G>A (p.Ala645Thr)
|
rs201077898
|
|
NM_001128178.3(NPHP1):c.483del (p.Asp162fs)
|
rs1410236296
|
|
NM_001128178.3(NPHP1):c.555del (p.Lys185fs)
|
rs766524637
|
|
NM_001128178.3(NPHP1):c.555dup (p.Pro186fs)
|
rs766524637
|
|
NM_001128178.3(NPHP1):c.625-2A>G
|
|
|
NM_001128178.3(NPHP1):c.69+1G>T
|
|
|
NM_001128178.3(NPHP1):c.69+1del
|
|
|
NM_001128178.3(NPHP1):c.724C>T (p.Gln242Ter)
|
|
|
NM_001128178.3(NPHP1):c.738_739del (p.His247fs)
|
|
|
NM_001128178.3(NPHP1):c.771+124C>T
|
|
|
NM_001128178.3(NPHP1):c.771+58C>T
|
|
|
NM_001128178.3(NPHP1):c.842C>G (p.Ser281Ter)
|
|
|
NM_001128178.3(NPHP1):c.882C>A (p.Tyr294Ter)
|
|
|
NM_001128178.3(NPHP1):c.935G>A (p.Trp312Ter)
|
|
|
NM_001128178.3(NPHP1):c.958del (p.Arg320fs)
|
|
|
NM_001134831.2(AHI1):c.1621G>T (p.Asp541Tyr)
|
rs1787553528
|
|
NM_001134831.2(AHI1):c.2361G>A (p.Trp787Ter)
|
rs863225146
|
|
NM_001134831.2(AHI1):c.3140del (p.Asn1047fs)
|
|
|
NM_001173990.3(TMEM216):c.112G>T (p.Glu38Ter)
|
|
|
NM_001173990.3(TMEM216):c.218G>A (p.Arg73His)
|
rs201108965
|
|
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu)
|
rs201108965
|
|
NM_001173990.3(TMEM216):c.222_224delinsA (p.Phe76fs)
|
|
|
NM_001173990.3(TMEM216):c.222_229+3delinsTTTTTTTGTT
|
|
|
NM_001173990.3(TMEM216):c.229+1G>A
|
rs2135191306
|
|
NM_001173990.3(TMEM216):c.229+1G>C
|
|
|
NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter)
|
rs11230683
|
|
NM_001173990.3(TMEM216):c.302_303insCATT (p.Met101fs)
|
|
|
NM_001173990.3(TMEM216):c.34+1G>A
|
|
|
NM_001173990.3(TMEM216):c.35-13_36del
|
rs1057520085
|
|
NM_001173990.3(TMEM216):c.67del (p.Leu23fs)
|
rs1565088283
|
|
NM_001173990.3(TMEM216):c.86G>A (p.Trp29Ter)
|
|
|
NM_001174150.2(ARL13B):c.968C>T (p.Ala323Val)
|
rs2076893818
|
|
NM_001308120.2(TOGARAM1):c.2921G>T (p.Arg974Met)
|
|
|
NM_001329943.3(KIAA0586):c.1277A>G (p.Glu426Gly)
|
rs867768844
|
|
NM_001329943.3(KIAA0586):c.2336C>A (p.Ser779Tyr)
|
rs2040884061
|
|
NM_001329943.3(KIAA0586):c.3793dup (p.Ile1265fs)
|
|
|
NM_001329943.3(KIAA0586):c.4283A>G (p.Asn1428Ser)
|
rs2044174256
|
|
NM_001375405.1(CEP120):c.1062G>T (p.Gln354His)
|
rs775393475
|
|
NM_001375405.1(CEP120):c.2044G>T (p.Ala682Ser)
|
|
|
NM_001382391.1(CSPP1):c.2259_2260del (p.Glu755fs)
|
rs587777139
|
|
NM_001382391.1(CSPP1):c.2387A>G (p.Glu796Gly)
|
rs1827120184
|
|
NM_001382391.1(CSPP1):c.2521_2524del (p.Ile841fs)
|
rs755739341
|
|
NM_001382391.1(CSPP1):c.959T>G (p.Met320Arg)
|
rs1313170509
|
|
NM_001384732.1(CPLANE1):c.4629T>G (p.Phe1543Leu)
|
rs1783222163
|
|
NM_001384732.1(CPLANE1):c.6302G>T (p.Arg2101Ile)
|
rs771457677
|
|
NM_001384732.1(CPLANE1):c.7367C>T (p.Pro2456Leu)
|
rs146595129
|
|
NM_003611.3(OFD1):c.400_403del (p.Glu134fs)
|
rs312262830
|
|
NM_003611.3(OFD1):c.604_609del (p.Glu202_Tyr203del)
|
rs1602826132
|
|
NM_003611.3(OFD1):c.991C>T (p.Gln331Ter)
|
rs1555904005
|
|
NM_014704.4(CEP104):c.2447G>T (p.Ser816Ile)
|
rs759250010
|
|
NM_015202.5(KATNIP):c.3239A>G (p.Lys1080Arg)
|
|
|
NM_015202.5(KATNIP):c.4850G>A (p.Arg1617His)
|
|
|
NM_015631.6(TCTN3):c.730C>G (p.Pro244Ala)
|
rs1389518788
|
|
NM_015681.6(B9D1):c.472+107G>A
|
rs1908281984
|
|
NM_018718.3(CEP41):c.34-2A>G
|
rs1797714974
|
|
NM_019892.6(INPP5E):c.1649_1651dup (p.Arg550dup)
|
rs778019120
|
|
NM_025103.4(IFT74):c.358G>T (p.Glu120Ter)
|
|
|
NM_025114.4(CEP290):c.2594_2595del (p.Leu865fs)
|
rs1221464366
|
|