|
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs)
|
rs534542684
|
0.00347
|
|
NM_001329943.3(KIAA0586):c.94dup (p.His32fs)
|
rs555421894
|
0.00053
|
|
NM_001077418.3(TMEM231):c.139+47C>A
|
rs200063331
|
0.00029
|
|
NM_001128178.3(NPHP1):c.771+169G>T
|
rs150520157
|
0.00027
|
|
NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter)
|
rs137853108
|
0.00026
|
|
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val)
|
rs201502401
|
0.00020
|
|
NM_001384732.1(CPLANE1):c.9220C>T (p.Arg3074Ter)
|
rs374144275
|
0.00019
|
|
NM_001384732.1(CPLANE1):c.424G>A (p.Glu142Lys)
|
rs756856188
|
0.00014
|
|
NM_001134831.2(AHI1):c.1267C>T (p.Gln423Ter)
|
rs777668842
|
0.00012
|
|
NM_014704.4(CEP104):c.1003C>T (p.Gln335Ter)
|
rs144744629
|
0.00011
|
|
NM_015631.6(TCTN3):c.2T>G (p.Met1Arg)
|
rs373479905
|
0.00011
|
|
NM_153240.5(NPHP3):c.2104C>T (p.Arg702Ter)
|
rs267606916
|
0.00010
|
|
NM_001077418.3(TMEM231):c.373C>G (p.Pro125Ala)
|
rs1442638461
|
0.00009
|
|
NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr)
|
rs267607119
|
0.00009
|
|
NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter)
|
rs199469707
|
0.00006
|
|
NM_001384732.1(CPLANE1):c.1784T>G (p.Leu595Ter)
|
rs530569572
|
0.00006
|
|
NM_153704.6(TMEM67):c.579_580del (p.Gly195fs)
|
rs386834202
|
0.00006
|
|
NM_153704.6(TMEM67):c.755T>C (p.Met252Thr)
|
rs202149403
|
0.00006
|
|
NM_001077418.3(TMEM231):c.664+4A>G
|
rs760426025
|
0.00005
|
|
NM_001134831.2(AHI1):c.3032C>G (p.Ser1011Ter)
|
rs777215595
|
0.00005
|
|
NM_001077418.3(TMEM231):c.625G>A (p.Asp209Asn)
|
rs200799769
|
0.00004
|
|
NM_001082538.3(TCTN1):c.712+1G>A
|
rs200863258
|
0.00004
|
|
NM_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro)
|
rs121918198
|
0.00004
|
|
NM_015272.5(RPGRIP1L):c.2200C>T (p.Arg734Ter)
|
rs751128300
|
0.00004
|
|
NM_153704.6(TMEM67):c.1319G>A (p.Arg440Gln)
|
rs386834182
|
0.00004
|
|
NM_001174150.2(ARL13B):c.1252C>T (p.Arg418Ter)
|
rs779260568
|
0.00003
|
|
NM_014875.3(KIF14):c.3661+1G>T
|
rs151249558
|
0.00003
|
|
NM_015272.5(RPGRIP1L):c.2874+1G>C
|
rs753075262
|
0.00003
|
|
NM_153704.6(TMEM67):c.1645C>T (p.Arg549Cys)
|
rs747025617
|
0.00003
|
|
NM_153704.6(TMEM67):c.651+2T>G
|
rs199821258
|
0.00003
|
|
NM_001044385.3(TMEM237):c.553+1G>A
|
rs80034299
|
0.00002
|
|
NM_001134831.2(AHI1):c.662C>G (p.Ser221Ter)
|
rs863225138
|
0.00002
|
|
NM_001384732.1(CPLANE1):c.4006C>T (p.Arg1336Trp)
|
rs367543061
|
0.00002
|
|
NM_019892.6(INPP5E):c.1753C>T (p.Arg585Cys)
|
rs763992407
|
0.00002
|
|
NM_024809.5(TCTN2):c.1506-2A>G
|
rs374349989
|
0.00002
|
|
NM_024809.5(TCTN2):c.703del (p.Leu235fs)
|
rs760830696
|
0.00002
|
|
NM_153240.5(NPHP3):c.2369T>C (p.Leu790Pro)
|
rs398124546
|
0.00002
|
|
NM_001128178.3(NPHP1):c.329+1G>A
|
rs376974221
|
0.00001
|
|
NM_001134831.2(AHI1):c.2105C>T (p.Thr702Met)
|
rs756276537
|
0.00001
|
|
NM_001134831.2(AHI1):c.484C>T (p.Gln162Ter)
|
rs1270654737
|
0.00001
|
|
NM_001134831.2(AHI1):c.736A>T (p.Lys246Ter)
|
rs863225142
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.2050C>T (p.Arg684Ter)
|
rs749475936
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.2422_2423del (p.Leu808fs)
|
rs1242532564
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.247G>T (p.Gly83Ter)
|
rs1554117456
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.7400+1G>A
|
rs367543062
|
0.00001
|
|
NM_001384732.1(CPLANE1):c.7588+7A>G
|
rs773662834
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.1804C>T (p.Arg602Ter)
|
rs745413543
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.196C>T (p.Gln66Ter)
|
rs751444506
|
0.00001
|
|
NM_015272.5(RPGRIP1L):c.751C>T (p.Arg251Ter)
|
rs993394322
|
0.00001
|
|
NM_015631.6(TCTN3):c.940G>T (p.Gly314Ter)
|
rs793888508
|
0.00001
|
|
NM_015681.6(B9D1):c.341G>A (p.Arg114Gln)
|
rs778260923
|
0.00001
|
|
NM_016464.5(TMEM138):c.128+5G>A
|
rs917404097
|
0.00001
|
|
NM_019892.6(INPP5E):c.1303C>T (p.Arg435Trp)
|
rs756789619
|
0.00001
|
|
NM_019892.6(INPP5E):c.1565G>C (p.Gly522Ala)
|
rs771866500
|
0.00001
|
|
NM_019892.6(INPP5E):c.1862G>A (p.Arg621Gln)
|
rs1588830568
|
0.00001
|
|
NM_024809.5(TCTN2):c.1751T>A (p.Ile584Lys)
|
rs201010803
|
0.00001
|
|
NM_030578.4(B9D2):c.301A>C (p.Ser101Arg)
|
rs1487082103
|
0.00001
|
|
NM_153240.5(NPHP3):c.3111C>G (p.Tyr1037Ter)
|
rs1007848349
|
0.00001
|
|
NM_153704.6(TMEM67):c.2439G>A (p.Ala813=)
|
rs201791586
|
0.00001
|
|
NC_000002.11:g.(110881641_110883213)_(110962591_?)del
|
|
|
|
NC_000002.11:g.(?_110880912)_(110886837_110889255)del
|
|
|
|
NC_000002.11:g.(?_110880924)_(110917833_110919179)del
|
|
|
|
NC_000003.11:g.(132438675_132440806)_132441126del
|
|
|
|
NC_000003.11:g.93714775_(93722753_93754174)del
|
|
|
|
NC_000005.9:g.(37108574_37115061)_(37196099_37198803)dup
|
|
|
|
NC_000006.11:g.(135732683_135748304)_(135751139_135752345)del
|
|
|
|
NC_000006.11:g.(135732683_135748304)_(135752453_135754164)del
|
|
|
|
NC_000006.11:g.(135754395_135759512)_(135759637_135763719)del
|
|
|
|
NC_000008.10:g.(94817107_94821067)_(94821390_94822012)del
|
|
|
|
NC_000011.9:g.(61131991_61133516)_(61133689_61135394)del
|
|
|
|
NC_000012.11:g.(111052208_111057640)_(111057762_111064166)del
|
|
|
|
NC_000012.11:g.(124163837_124171382)_(124181746_124184250)del
|
|
|
|
NC_000012.11:g.(124189236_124191272)_(124192951_?)del
|
|
|
|
NC_000012.11:g.(?_124155659)_(124184358_124189078)del
|
|
|
|
NC_000016.9:g.(53636101_53639392)_(53698922_53705421)del
|
|
|
|
NM_001044385.3(TMEM237):c.636G>A (p.Trp212Ter)
|
rs2105899200
|
|
|
NM_001044385.3(TMEM237):c.725G>A (p.Trp242Ter)
|
|
|
|
NM_001077418.3(TMEM231):c.248G>A (p.Trp83Ter)
|
rs2080804101
|
|
|
NM_001077418.3(TMEM231):c.279dup (p.Gly94fs)
|
|
|
|
NM_001077418.3(TMEM231):c.438+1G>C
|
rs1415483600
|
|
|
NM_001077418.3(TMEM231):c.538C>T (p.Gln180Ter)
|
|
|
|
NM_001077418.3(TMEM231):c.665-11T>C
|
rs886039807
|
|
|
NM_001077418.3(TMEM231):c.815A>C (p.Gln272Pro)
|
rs397514754
|
|
|
NM_001082538.2(TCTN1):c.1336_1339delACTG
|
|
|
|
NM_001082538.3(TCTN1):c.1114dup (p.Gln372fs)
|
|
|
|
NM_001082538.3(TCTN1):c.1284del (p.Thr429fs)
|
rs1566003392
|
|
|
NM_001082538.3(TCTN1):c.1494+2T>C
|
|
|
|
NM_001082538.3(TCTN1):c.291C>A (p.Cys97Ter)
|
|
|
|
NM_001082538.3(TCTN1):c.342-8A>G
|
|
|
|
NM_001128178.3(NPHP1):c.1083+1G>A
|
|
|
|
NM_001128178.3(NPHP1):c.144-1G>A
|
|
|
|
NM_001128178.3(NPHP1):c.1551del (p.Ile517fs)
|
rs1017750255
|
|
|
NM_001134831.2(AHI1):c.101del (p.Lys34fs)
|
|
|
|
NM_001134831.2(AHI1):c.1516C>T (p.Arg506Ter)
|
rs371637724
|
|
|
NM_001134831.2(AHI1):c.1671del (p.Gly558fs)
|
rs2128056526
|
|
|
NM_001134831.2(AHI1):c.1983del (p.Trp662fs)
|
rs1459452503
|
|
|
NM_001134831.2(AHI1):c.1985G>A (p.Trp662Ter)
|
|
|
|
NM_001134831.2(AHI1):c.2388_2389del (p.Glu797fs)
|
|
|
|
NM_001134831.2(AHI1):c.2492+1G>A
|
rs187245292
|
|
|
NM_001134831.2(AHI1):c.2495T>G (p.Leu832Ter)
|
rs863225131
|
|
|
NM_001134831.2(AHI1):c.3426+2T>C
|
|
|
|
NM_001134831.2(AHI1):c.910dup (p.Thr304fs)
|
rs753874898
|
|
|
NM_001134831.2(AHI1):c.917del (p.Lys306fs)
|
rs1181159671
|
|
|
NM_001174150.2(ARL13B):c.246del (p.Ile81_Trp82insTer)
|
|
|
|
NM_001174150.2(ARL13B):c.59+1G>A
|
|
|
|
NM_001174150.2(ARL13B):c.598C>T (p.Arg200Cys)
|
rs121912608
|
|
|
NM_001174150.2(ARL13B):c.599G>A (p.Arg200His)
|
rs764109067
|
|
|
NM_001174150.2(ARL13B):c.801del (p.Asn267fs)
|
|
|
|
NM_001174150.2(ARL13B):c.830dup (p.Asn277fs)
|
rs752472169
|
|
|
NM_001174150.2(ARL13B):c.976C>T (p.Gln326Ter)
|
|
|
|
NM_001244189.1(KIAA0586):c.2602_2612del11
|
|
|
|
NM_001329943.3(KIAA0586):c.1362+2T>C
|
rs901508284
|
|
|
NM_001329943.3(KIAA0586):c.4032del (p.Arg1344fs)
|
rs886039809
|
|
|
NM_001378615.1(CC2D2A):c.2999_3000inv (p.Glu1000Val)
|
|
|
|
NM_001384732.1(CPLANE1):c.1122-2A>G
|
|
|
|
NM_001384732.1(CPLANE1):c.1809_1811delinsCCAT (p.Tyr607fs)
|
|
|
|
NM_001384732.1(CPLANE1):c.1819dup (p.Tyr607fs)
|
rs777686211
|
|
|
NM_001384732.1(CPLANE1):c.2020C>T (p.Gln674Ter)
|
|
|
|
NM_001384732.1(CPLANE1):c.2490_2494del (p.Lys830fs)
|
rs926409425
|
|
|
NM_001384732.1(CPLANE1):c.2937dup (p.Ile980fs)
|
rs1561601398
|
|
|
NM_001384732.1(CPLANE1):c.3056_3059dup (p.Trp1020fs)
|
|
|
|
NM_001384732.1(CPLANE1):c.3176del (p.Pro1059fs)
|
|
|
|
NM_001384732.1(CPLANE1):c.5167C>T (p.Gln1723Ter)
|
|
|
|
NM_001384732.1(CPLANE1):c.7234-2_7234del
|
|
|
|
NM_001384732.1(CPLANE1):c.8425del (p.Thr2809fs)
|
rs775263897
|
|
|
NM_001384732.1(CPLANE1):c.8471del (p.Phe2823_Leu2824insTer)
|
|
|
|
NM_001384732.1(CPLANE1):c.9097C>T (p.Gln3033Ter)
|
|
|
|
NM_014704.4(CEP104):c.1051_1054del (p.Thr351fs)
|
rs749829859
|
|
|
NM_014704.4(CEP104):c.1232del (p.Gly411fs)
|
|
|
|
NM_014704.4(CEP104):c.1485+1G>A
|
|
|
|
NM_014704.4(CEP104):c.162T>A (p.Cys54Ter)
|
|
|
|
NM_014704.4(CEP104):c.182del (p.Leu61fs)
|
|
|
|
NM_014704.4(CEP104):c.1867_1870del (p.Tyr623fs)
|
rs1189678912
|
|
|
NM_014704.4(CEP104):c.2286del (p.Glu762fs)
|
|
|
|
NM_014704.4(CEP104):c.928dup (p.Ala310fs)
|
|
|
|
NM_014875.3(KIF14):c.1921dup (p.Ser641fs)
|
|
|
|
NM_014875.3(KIF14):c.2218C>T (p.Arg740Ter)
|
|
|
|
NM_014875.3(KIF14):c.2765_2766del (p.Lys922fs)
|
|
|
|
NM_014875.3(KIF14):c.8dup (p.Leu3fs)
|
|
|
|
NM_015272.5(RPGRIP1L):c.2239C>T (p.Arg747Ter)
|
rs767686118
|
|
|
NM_015272.5(RPGRIP1L):c.2303C>A (p.Ser768Ter)
|
rs542206983
|
|
|
NM_015272.5(RPGRIP1L):c.2450A>G (p.Tyr817Cys)
|
|
|
|
NM_015272.5(RPGRIP1L):c.3299_3300dup (p.Ala1101fs)
|
rs797045104
|
|
|
NM_015272.5(RPGRIP1L):c.3558_3559dup (p.Pro1187fs)
|
rs1200131247
|
|
|
NM_015272.5(RPGRIP1L):c.529+1688_609del
|
|
|
|
NM_015272.5(RPGRIP1L):c.650C>A (p.Ser217Ter)
|
|
|
|
NM_015272.5(RPGRIP1L):c.757C>T (p.Gln253Ter)
|
rs121918199
|
|
|
NM_015631.6(TCTN3):c.256+2_256+7del
|
rs1224169161
|
|
|
NM_015631.6(TCTN3):c.615del (p.Ser206fs)
|
|
|
|
NM_015631.6(TCTN3):c.622dup (p.Tyr208fs)
|
|
|
|
NM_015681.6(B9D1):c.209T>C (p.Ile70Thr)
|
rs886039811
|
|
|
NM_016464.5(TMEM138):c.389A>G (p.Tyr130Cys)
|
rs387907135
|
|
|
NM_019892.6(INPP5E):c.1132C>T (p.Arg378Cys)
|
rs121918130
|
|
|
NM_019892.6(INPP5E):c.1224del (p.Ile409fs)
|
rs2131608743
|
|
|
NM_019892.6(INPP5E):c.1608dup (p.Asp537Ter)
|
rs2131605715
|
|
|
NM_019892.6(INPP5E):c.1688G>A (p.Arg563His)
|
rs121918128
|
|
|
NM_019892.6(INPP5E):c.1757_1758del (p.Pro586fs)
|
|
|
|
NM_019892.6(INPP5E):c.1844_1846delinsGAA (p.Leu615_Leu616delinsTer)
|
|
|
|
NM_019892.6(INPP5E):c.473del (p.Gly158fs)
|
rs779450345
|
|
|
NM_024809.5(TCTN2):c.1550dup (p.His517fs)
|
|
|
|
NM_024809.5(TCTN2):c.1806dup (p.Thr603fs)
|
|
|
|
NM_025114.4(CEP290):c.4811G>A (p.Trp1604Ter)
|
rs886039808
|
|
|
NM_030578.4(B9D2):c.220C>T (p.Pro74Ser)
|
rs863225150
|
|
|
NM_030578.4(B9D2):c.223_224insT (p.Arg75fs)
|
|
|
|
NM_030578.4(B9D2):c.33delinsTG (p.Ala13fs)
|
|
|
|
NM_030578.4(B9D2):c.463G>A (p.Gly155Ser)
|
rs750436680
|
|
|
NM_033402.5(LRRCC1):c.105-1G>C
|
rs886039794
|
|
|
NM_153240.5(NPHP3):c.1304_1306del (p.Glu435del)
|
rs1456714047
|
|
|
NM_153240.5(NPHP3):c.1531C>T (p.Gln511Ter)
|
|
|
|
NM_153240.5(NPHP3):c.187_194del (p.Gly63fs)
|
rs2108007892
|
|
|
NM_153240.5(NPHP3):c.1888-7_1893del
|
rs1553773296
|
|
|
NM_153240.5(NPHP3):c.52del (p.Asp18fs)
|
rs2108008280
|
|
|
NM_153704.6(TMEM67):c.1132-2A>G
|
|
|
|
NM_153704.6(TMEM67):c.114del (p.Phe39fs)
|
|
|
|
NM_153704.6(TMEM67):c.1538A>G (p.Tyr513Cys)
|
rs137853107
|
|
|
NM_153704.6(TMEM67):c.1964_1965dup (p.Gly656fs)
|
|
|
|
NM_153704.6(TMEM67):c.223+1G>C
|
|
|
|
NM_153704.6(TMEM67):c.2429_2433del (p.Lys810fs)
|
|
|
|
NM_153704.6(TMEM67):c.2707G>C (p.Glu903Gln)
|
rs886039810
|
|
|
NM_153704.6(TMEM67):c.274G>A (p.Gly92Arg)
|
|
|
|
NM_153704.6(TMEM67):c.370G>A (p.Glu124Lys)
|
rs375824494
|
|
|
NM_153704.6(TMEM67):c.50T>A (p.Leu17Ter)
|
rs1563672487
|
|