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_019892.6(INPP5E):c.1248T>C (p.Thr416=)
|
rs10781542
|
0.42574
|
NM_019892.6(INPP5E):c.1284T>C (p.Gly428=)
|
rs10870194
|
0.42571
|
NM_019892.6(INPP5E):c.*328T>C
|
rs35763810
|
0.41134
|
NM_019892.6(INPP5E):c.*703A>G
|
rs1128874
|
0.40097
|
NM_019892.6(INPP5E):c.*816A>G
|
rs8413
|
0.40078
|
NM_012463.3(ATP6V0A2):c.-222C>G
|
rs71458814
|
0.36518
|
NM_012463.4(ATP6V0A2):c.-14C>T
|
rs1139320
|
0.36505
|
NM_019892.6(INPP5E):c.1794G>T (p.Gly598=)
|
rs33982662
|
0.22912
|
NM_019892.6(INPP5E):c.*98G>A
|
rs35873563
|
0.20643
|
NM_001134831.2(AHI1):c.*396_*397dup
|
rs397885237
|
0.11907
|
NM_019892.6(INPP5E):c.*926T>C
|
rs1128877
|
0.10951
|
NM_019892.6(INPP5E):c.972A>G (p.Pro324=)
|
rs10870199
|
0.10324
|
NM_024753.4(TTC21B):c.-145G>A
|
rs111867313
|
0.09068
|
NM_018718.2(CEP41):c.-144G>A
|
rs10230435
|
0.08654
|
NM_023073.3(CPLANE1):c.-234G>C
|
rs80164363
|
0.08017
|
NM_019892.6(INPP5E):c.1359C>T (p.Pro453=)
|
rs35774078
|
0.05472
|
NM_016464.4(TMEM138):c.-308A>G
|
rs7120780
|
0.04768
|
NM_001080432.3(FTO):c.18T>C (p.Thr6=)
|
rs73609956
|
0.02787
|
NM_019892.6(INPP5E):c.33C>G (p.Ser11=)
|
rs79161998
|
0.02475
|
NM_019892.6(INPP5E):c.-174G>A
|
rs544247720
|
0.01935
|
NM_019892.6(INPP5E):c.603C>G (p.Ile201Met)
|
rs36064831
|
0.01896
|
NM_019892.6(INPP5E):c.1388-13C>T
|
rs78828148
|
0.01500
|
NM_016464.4(TMEM138):c.-239C>T
|
rs146156958
|
0.01419
|
NM_019892.6(INPP5E):c.981C>T (p.Ala327=)
|
rs35498378
|
0.01340
|
NM_019892.6(INPP5E):c.636C>A (p.Val212=)
|
rs34071122
|
0.01252
|
NM_019892.6(INPP5E):c.531C>A (p.Ala177=)
|
rs58206296
|
0.01135
|
NM_024809.5(TCTN2):c.*45G>A
|
rs142969969
|
0.01053
|
NM_019892.6(INPP5E):c.-239C>G
|
rs562519905
|
0.00588
|
NM_019892.6(INPP5E):c.-31G>C
|
rs554931078
|
0.00466
|
NM_018718.2(CEP41):c.-243G>A
|
rs542293061
|
0.00425
|
NM_019892.6(INPP5E):c.791G>A (p.Arg264His)
|
rs202197173
|
0.00415
|
NM_019892.6(INPP5E):c.1730C>G (p.Pro577Arg)
|
rs147967974
|
0.00405
|
NM_019892.6(INPP5E):c.1159+8C>T
|
rs73566945
|
0.00276
|
NM_016464.4(TMEM138):c.-479A>C
|
rs192845534
|
0.00275
|
NM_019892.6(INPP5E):c.813-5C>G
|
rs186462782
|
0.00238
|
NM_019892.6(INPP5E):c.21T>C (p.Asn7=)
|
rs571588033
|
0.00135
|
NM_019892.6(INPP5E):c.1550-14C>T
|
rs181576122
|
0.00117
|
NM_019892.6(INPP5E):c.1506G>A (p.Pro502=)
|
rs74880446
|
0.00100
|
NM_024753.4(TTC21B):c.-91T>C
|
rs772121352
|
0.00096
|
NM_024753.4(TTC21B):c.-107C>T
|
rs545898884
|
0.00091
|
NM_018718.3(CEP41):c.*3741A>T
|
rs532169706
|
0.00076
|
NM_001044385.3(TMEM237):c.*258del
|
rs558670305
|
0.00075
|
NM_019892.6(INPP5E):c.*630G>A
|
rs539039743
|
0.00071
|
NM_016464.4(TMEM138):c.-255C>T
|
rs112115349
|
0.00061
|
NM_019892.6(INPP5E):c.813-8C>T
|
rs373176644
|
0.00061
|
NM_019892.6(INPP5E):c.469G>T (p.Gly157Trp)
|
rs78211353
|
0.00057
|
NM_019892.6(INPP5E):c.*747T>C
|
rs191248562
|
0.00054
|
NM_016464.4(TMEM138):c.-294G>A
|
rs775592054
|
0.00034
|
NM_019892.6(INPP5E):c.*811G>A
|
rs778109117
|
0.00031
|
NM_019892.6(INPP5E):c.1191C>T (p.Ile397=)
|
rs558778286
|
0.00029
|
NM_019892.6(INPP5E):c.875G>A (p.Arg292His)
|
rs199873582
|
0.00027
|
NM_001378615.1(CC2D2A):c.501G>T (p.Lys167Asn)
|
rs190694237
|
0.00026
|
NM_024753.4(TTC21B):c.-94C>T
|
rs563836188
|
0.00021
|
NM_019892.6(INPP5E):c.*235A>G
|
rs376604726
|
0.00020
|
NM_019892.6(INPP5E):c.-347G>A
|
rs886063716
|
0.00016
|
NM_001044385.3(TMEM237):c.*714_*715del
|
rs373844800
|
0.00014
|
NM_019892.6(INPP5E):c.1136G>A (p.Arg379Lys)
|
rs200518324
|
0.00012
|
NM_019892.6(INPP5E):c.-271C>T
|
rs886063714
|
0.00011
|
NM_001134831.2(AHI1):c.*447T>A
|
rs886061106
|
0.00009
|
NM_019892.6(INPP5E):c.304G>T (p.Asp102Tyr)
|
rs187724945
|
0.00009
|
NM_019892.6(INPP5E):c.1384G>A (p.Ala462Thr)
|
rs200837258
|
0.00007
|
NM_015272.5(RPGRIP1L):c.*901A>G
|
rs750903762
|
0.00006
|
NM_019892.6(INPP5E):c.1104C>T (p.His368=)
|
rs148592275
|
0.00006
|
NM_019892.6(INPP5E):c.1325C>T (p.Thr442Ile)
|
rs201043370
|
0.00006
|
NM_019892.6(INPP5E):c.1380C>T (p.Ser460=)
|
rs145543466
|
0.00006
|
NM_018718.3(CEP41):c.786G>A (p.Pro262=)
|
rs782460743
|
0.00005
|
NM_019892.6(INPP5E):c.580C>G (p.Pro194Ala)
|
rs200223403
|
0.00005
|
NM_019892.6(INPP5E):c.*13G>A
|
rs199734968
|
0.00004
|
NM_019892.6(INPP5E):c.*763G>C
|
rs564573606
|
0.00004
|
NM_019892.6(INPP5E):c.-175C>T
|
rs868202242
|
0.00004
|
NM_019892.6(INPP5E):c.1192G>A (p.Val398Met)
|
rs200033750
|
0.00004
|
NM_019892.6(INPP5E):c.1388-5C>T
|
rs187956407
|
0.00004
|
NM_024753.4(TTC21B):c.-89C>G
|
rs868157832
|
0.00004
|
NM_015272.5(RPGRIP1L):c.3362C>T (p.Pro1121Leu)
|
rs886052093
|
0.00003
|
NM_019892.6(INPP5E):c.*913T>C
|
rs886063708
|
0.00003
|
NM_019892.6(INPP5E):c.*213C>T
|
rs544203657
|
0.00002
|
NM_019892.6(INPP5E):c.1393G>A (p.Val465Ile)
|
rs750331066
|
0.00002
|
NM_019892.6(INPP5E):c.1407C>T (p.Phe469=)
|
rs377483407
|
0.00002
|
NM_001378615.1(CC2D2A):c.2486+8A>G
|
rs749186859
|
0.00001
|
NM_001384732.1(CPLANE1):c.792T>C (p.Asp264=)
|
rs886060585
|
0.00001
|
NM_001384732.1(CPLANE1):c.8830G>C (p.Asp2944His)
|
rs761880579
|
0.00001
|
NM_016464.4(TMEM138):c.-304C>A
|
rs548180077
|
0.00001
|
NM_019892.6(INPP5E):c.*721C>T
|
rs886063710
|
0.00001
|
NM_019892.6(INPP5E):c.-41C>T
|
rs1170873095
|
0.00001
|
NM_019892.6(INPP5E):c.1453G>A (p.Gly485Arg)
|
rs768384414
|
0.00001
|
NM_019892.6(INPP5E):c.1530C>T (p.Leu510=)
|
rs780119172
|
0.00001
|
NM_019892.6(INPP5E):c.1686C>T (p.Ser562=)
|
rs760729838
|
0.00001
|
NM_019892.6(INPP5E):c.547C>T (p.Pro183Ser)
|
rs754964359
|
0.00001
|
NM_001009894.3(RLIG1):c.*618TATT[1]
|
rs886049876
|
|
NM_001009894.3(RLIG1):c.*743_*746del
|
rs142288119
|
|
NM_001044385.2(TMEM237):c.-126G>A
|
rs572770188
|
|
NM_001044385.3(TMEM237):c.*3513del
|
rs143218667
|
|
NM_001044385.3(TMEM237):c.*470_*473del
|
rs886055445
|
|
NM_001044385.3(TMEM237):c.870-13_870-12del
|
rs555284377
|
|
NM_001082538.3(TCTN1):c.473-6_473-4del
|
rs10577377
|
|
NM_001128178.3(NPHP1):c.*333AAC[1]
|
rs555468187
|
|
NM_001128178.3(NPHP1):c.635AAG[5] (p.Glu215dup)
|
rs777677768
|
|
NM_001134831.2(AHI1):c.*1051ATTT[1]
|
rs144339517
|
|
NM_001134831.2(AHI1):c.*1116TAT[1]
|
rs886061104
|
|
NM_001134831.2(AHI1):c.*500_*504del
|
rs886061105
|
|
NM_001142301.1(TMEM67):c.-207del
|
rs145334032
|
|
NM_001173990.3(TMEM216):c.230-9G>A
|
rs886048412
|
|
NM_001174150.2(ARL13B):c.*1818ATATA[1]
|
rs752990716
|
|
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_001384732.1(CPLANE1):c.1554A>T (p.Arg518Ser)
|
rs886060583
|
|
NM_001384732.1(CPLANE1):c.4190-10_4190-9del
|
rs111508546
|
|
NM_001384732.1(CPLANE1):c.7438dup (p.Arg2480fs)
|
rs886060575
|
|
NM_001384732.1(CPLANE1):c.8633-3del
|
rs34646696
|
|
NM_001384732.1(CPLANE1):c.8663+8_8663+12del
|
rs763664569
|
|
NM_015272.5(RPGRIP1L):c.3617-13dup
|
rs750499169
|
|
NM_016464.4(TMEM138):c.-226C>G
|
rs545702620
|
|
NM_016464.4(TMEM138):c.-350A>C
|
rs886048406
|
|
NM_016464.4(TMEM138):c.-518C>T
|
rs530037192
|
|
NM_016464.4(TMEM138):c.-520_-518delTCC
|
rs369988724
|
|
NM_016464.5(TMEM138):c.128+15G>A
|
rs886048408
|
|
NM_018718.2(CEP41):c.-178C>A
|
rs10230670
|
|
NM_018718.2(CEP41):c.-178C>T
|
rs10230670
|
|
NM_018718.2(CEP41):c.-244A>T
|
rs886062003
|
|
NM_018718.3(CEP41):c.*1357del
|
rs886061999
|
|
NM_018718.3(CEP41):c.*1384del
|
rs55776575
|
|
NM_018718.3(CEP41):c.*1384dup
|
rs55776575
|
|
NM_018718.3(CEP41):c.*1386dup
|
rs886061997
|
|
NM_018718.3(CEP41):c.*3526dup
|
rs3839655
|
|
NM_019892.6(INPP5E):c.*484C>G
|
rs1358870988
|
|
NM_019892.6(INPP5E):c.*559C>T
|
rs1835639348
|
|
NM_019892.6(INPP5E):c.*582C>T
|
rs931605716
|
|
NM_019892.6(INPP5E):c.*727C>T
|
rs886063709
|
|
NM_019892.6(INPP5E):c.-149C>T
|
rs1386453934
|
|
NM_019892.6(INPP5E):c.-343T>C
|
rs886063715
|
|
NM_019892.6(INPP5E):c.1009G>C (p.Gly337Arg)
|
rs368235861
|
|
NM_019892.6(INPP5E):c.1034+8G>A
|
rs201272028
|
|
NM_019892.6(INPP5E):c.1074G>A (p.Pro358=)
|
rs746782404
|
|
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTGGAGG
|
rs71269007
|
|
NM_019892.6(INPP5E):c.1279+14T>C
|
rs886063711
|
|
NM_019892.6(INPP5E):c.136G>A (p.Glu46Lys)
|
rs886063713
|
|
NM_019892.6(INPP5E):c.1479G>A (p.Leu493=)
|
rs754015058
|
|
NM_019892.6(INPP5E):c.1521C>T (p.His507=)
|
rs10870188
|
|
NM_019892.6(INPP5E):c.1547A>G (p.Lys516Arg)
|
rs13294000
|
|
NM_019892.6(INPP5E):c.1743G>A (p.Thr581=)
|
rs368026621
|
|
NM_019892.6(INPP5E):c.1791G>A (p.Pro597=)
|
rs10870182
|
|
NM_019892.6(INPP5E):c.1791G>C (p.Pro597=)
|
rs10870182
|
|
NM_019892.6(INPP5E):c.812+3AGGG[3]
|
rs5901103
|
|
NM_019892.6(INPP5E):c.812+7_812+10del
|
rs5901103
|
|
NM_024753.4(TTC21B):c.-75A>C
|
rs886055032
|
|
NM_024753.4(TTC21B):c.-82C>G
|
rs543599575
|
|
NM_024753.5(TTC21B):c.*1123dup
|
rs886055020
|
|
NM_024753.5(TTC21B):c.2569-10dup
|
rs144600502
|
|
NM_024753.5(TTC21B):c.95G>A (p.Arg32Lys)
|
rs886055028
|
|
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_153704.6(TMEM67):c.119CTTTCC[3] (p.Pro42_Phe43dup)
|
rs886063171
|
|