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_019892.6(INPP5E):c.1794G>T (p.Gly598=)
|
rs33982662
|
0.22912
|
NM_019892.6(INPP5E):c.*98G>A
|
rs35873563
|
0.20643
|
NM_019892.6(INPP5E):c.*926T>C
|
rs1128877
|
0.10951
|
NM_019892.6(INPP5E):c.972A>G (p.Pro324=)
|
rs10870199
|
0.10324
|
NM_001378615.1(CC2D2A):c.156C>T (p.Ser52=)
|
rs1861050
|
0.07770
|
NM_019892.6(INPP5E):c.1359C>T (p.Pro453=)
|
rs35774078
|
0.05472
|
NM_025114.4(CEP290):c.2512A>G (p.Lys838Glu)
|
rs11104738
|
0.05247
|
NM_019892.6(INPP5E):c.33C>G (p.Ser11=)
|
rs79161998
|
0.02475
|
NM_001134831.2(AHI1):c.2488C>T (p.Arg830Trp)
|
rs13312995
|
0.02035
|
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_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_019892.6(INPP5E):c.-239C>G
|
rs562519905
|
0.00588
|
NM_024753.5(TTC21B):c.2322+3A>G
|
rs79037278
|
0.00575
|
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val)
|
rs146496725
|
0.00537
|
NM_001174150.2(ARL13B):c.1186C>G (p.Pro396Ala)
|
rs11554412
|
0.00529
|
NM_019892.6(INPP5E):c.-31G>C
|
rs554931078
|
0.00466
|
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_025114.4(CEP290):c.1079G>A (p.Arg360Gln)
|
rs188164241
|
0.00405
|
NM_001128178.3(NPHP1):c.14G>T (p.Arg5Leu)
|
rs190983114
|
0.00366
|
NM_019892.6(INPP5E):c.1159+8C>T
|
rs73566945
|
0.00276
|
NM_019892.6(INPP5E):c.813-5C>G
|
rs186462782
|
0.00238
|
NM_153704.6(TMEM67):c.25G>A (p.Val9Met)
|
rs199961375
|
0.00225
|
NM_153704.6(TMEM67):c.1078A>G (p.Thr360Ala)
|
rs140191346
|
0.00188
|
NM_019892.6(INPP5E):c.623C>T (p.Thr208Ile)
|
rs143107549
|
0.00177
|
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_019892.6(INPP5E):c.*630G>A
|
rs539039743
|
0.00071
|
NM_024753.5(TTC21B):c.691A>T (p.Thr231Ser)
|
rs149925563
|
0.00071
|
NM_001378615.1(CC2D2A):c.2161C>T (p.Pro721Ser)
|
rs199768782
|
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_019892.6(INPP5E):c.1360G>A (p.Asp454Asn)
|
rs138150684
|
0.00033
|
NM_019892.6(INPP5E):c.*811G>A
|
rs778109117
|
0.00031
|
NM_019892.6(INPP5E):c.1191C>T (p.Ile397=)
|
rs558778286
|
0.00029
|
NM_025114.4(CEP290):c.2991+1655A>G
|
rs281865192
|
0.00029
|
NM_019892.6(INPP5E):c.875G>A (p.Arg292His)
|
rs199873582
|
0.00027
|
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly)
|
rs77778467
|
0.00022
|
NM_019892.6(INPP5E):c.*235A>G
|
rs376604726
|
0.00020
|
NM_019892.6(INPP5E):c.-347G>A
|
rs886063716
|
0.00016
|
NM_001134831.2(AHI1):c.3196C>T (p.Arg1066Ter)
|
rs780163791
|
0.00013
|
NM_019892.6(INPP5E):c.1136G>A (p.Arg379Lys)
|
rs200518324
|
0.00012
|
NM_019892.6(INPP5E):c.-271C>T
|
rs886063714
|
0.00011
|
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_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_019892.6(INPP5E):c.1388C>T (p.Ala463Val)
|
rs199956627
|
0.00006
|
NM_019892.6(INPP5E):c.580C>G (p.Pro194Ala)
|
rs200223403
|
0.00005
|
NM_019892.6(INPP5E):c.746C>T (p.Ser249Phe)
|
rs550485638
|
0.00005
|
NM_001044385.3(TMEM237):c.1024A>G (p.Asn342Asp)
|
rs372686071
|
0.00004
|
NM_001384732.1(CPLANE1):c.1270C>T (p.Arg424Ter)
|
rs755097302
|
0.00004
|
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_019892.6(INPP5E):c.510C>G (p.Asn170Lys)
|
rs778210239
|
0.00004
|
NM_019892.6(INPP5E):c.*913T>C
|
rs886063708
|
0.00003
|
NM_019892.6(INPP5E):c.1304G>A (p.Arg435Gln)
|
rs121918129
|
0.00003
|
NM_025114.4(CEP290):c.2722C>T (p.Arg908Ter)
|
rs886042153
|
0.00003
|
NM_001378615.1(CC2D2A):c.3688C>T (p.Arg1230Ter)
|
rs1022325907
|
0.00002
|
NM_001384732.1(CPLANE1):c.4006C>T (p.Arg1336Trp)
|
rs367543061
|
0.00002
|
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.1402C>T (p.Arg468Cys)
|
rs375909217
|
0.00002
|
NM_019892.6(INPP5E):c.1407C>T (p.Phe469=)
|
rs377483407
|
0.00002
|
NM_019892.6(INPP5E):c.1666-12A>G
|
rs372545147
|
0.00002
|
NM_001378615.1(CC2D2A):c.1267C>T (p.Arg423Ter)
|
rs757208121
|
0.00001
|
NM_001384732.1(CPLANE1):c.3104G>C (p.Gly1035Ala)
|
rs1019442092
|
0.00001
|
NM_001384732.1(CPLANE1):c.9017+1G>A
|
rs863225154
|
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.1021G>A (p.Gly341Ser)
|
rs780882740
|
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.1543C>T (p.Arg515Trp)
|
rs13297509
|
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_025114.4(CEP290):c.3911T>C (p.Met1304Thr)
|
rs761010723
|
0.00001
|
NC_000004.11:g.15589466_15589468delGAA
|
rs794729225
|
|
NC_000004.11:g.15601250_15601251delCT
|
rs794729226
|
|
NM_001134831.2(AHI1):c.1205del (p.Pro402fs)
|
rs794729195
|
|
NM_001134831.2(AHI1):c.1779G>T (p.Gln593His)
|
rs1583276758
|
|
NM_001134831.2(AHI1):c.1829G>C (p.Arg610Pro)
|
rs374009466
|
|
NM_001134831.2(AHI1):c.2623+1G>T
|
rs751823180
|
|
NM_001134831.2(AHI1):c.2742del (p.Leu915fs)
|
rs1583179845
|
|
NM_001173990.3(TMEM216):c.432-1G>C
|
rs10897158
|
|
NM_001174150.2(ARL13B):c.486+22del
|
rs368491848
|
|
NM_001174150.2(ARL13B):c.486+22dup
|
rs368491848
|
|
NM_001378615.1(CC2D2A):c.676GAA[3] (p.Glu229del)
|
rs386833764
|
|
NM_001384732.1(CPLANE1):c.1394del (p.Leu465fs)
|
rs1280425167
|
|
NM_001384732.1(CPLANE1):c.2898del (p.Pro968fs)
|
rs1305821156
|
|
NM_001384732.1(CPLANE1):c.7588+3A>G
|
|
|
NM_001384732.1(CPLANE1):c.9063C>A (p.Tyr3021Ter)
|
rs377142277
|
|
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.1132C>T (p.Arg378Cys)
|
rs121918130
|
|
NM_019892.6(INPP5E):c.1159+16_1159+33del
|
rs1239490197
|
|
NM_019892.6(INPP5E):c.1279+14T>C
|
rs886063711
|
|
NM_019892.6(INPP5E):c.1312G>C (p.Asp438His)
|
rs1835733198
|
|
NM_019892.6(INPP5E):c.136G>A (p.Glu46Lys)
|
rs886063713
|
|
NM_019892.6(INPP5E):c.1408G>A (p.Asp470Asn)
|
|
|
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.1649_1651dup (p.Arg550dup)
|
rs778019120
|
|
NM_019892.6(INPP5E):c.1688G>A (p.Arg563His)
|
rs121918128
|
|
NM_019892.6(INPP5E):c.1743G>A (p.Thr581=)
|
rs368026621
|
|
NM_019892.6(INPP5E):c.1762T>C (p.Tyr588His)
|
|
|
NM_019892.6(INPP5E):c.1763A>G (p.Tyr588Cys)
|
rs1564431175
|
|
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.1897C>T (p.Gln633Ter)
|
rs763184652
|
|
NM_019892.6(INPP5E):c.226dup (p.Ala76fs)
|
|
|
NM_019892.6(INPP5E):c.812+7_812+10del
|
rs5901103
|
|
NM_019892.6(INPP5E):c.856G>A (p.Gly286Arg)
|
|
|
NM_025114.4(CEP290):c.14T>C (p.Ile5Thr)
|
rs1434632102
|
|
NM_025114.4(CEP290):c.1522+1G>C
|
rs1592639588
|
|
NM_025114.4(CEP290):c.1666del (p.Ile556fs)
|
rs727503855
|
|
NM_025114.4(CEP290):c.1666dup (p.Ile556fs)
|
rs727503855
|
|
NM_025114.4(CEP290):c.223A>G (p.Lys75Glu)
|
rs779010679
|
|
NM_025114.4(CEP290):c.4704G>C (p.Glu1568Asp)
|
rs1592836704
|
|
NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro)
|
rs778030031
|
|
NM_025114.4(CEP290):c.6271-8T>G
|
rs1039146791
|
|
NM_025114.4(CEP290):c.881C>G (p.Ser294Ter)
|
rs1592668925
|
|
NM_133496.5(SLC30A7):c.490_491delinsAG (p.His164Ser)
|
rs1057519442
|
|
NM_153704.6(TMEM67):c.2201_2208dup (p.Ala737fs)
|
rs1586074742
|
|
NM_153704.6(TMEM67):c.2485C>G (p.Gln829Glu)
|
rs1586090222
|
|
NM_182924.4(MICALL2):c.851C>G (p.Pro284Arg)
|
rs556808514
|
|