NM_014336.5(AIPL1):c.651A>G (p.Pro217=)
|
rs2292546
|
0.73525
|
NM_014748.4(SNX17):c.*653G>A
|
rs13472
|
0.37643
|
NM_014336.5(AIPL1):c.*1229C>T
|
rs907938
|
0.28038
|
NM_014336.5(AIPL1):c.268G>C (p.Asp90His)
|
rs12449580
|
0.19586
|
NM_014336.5(AIPL1):c.*1009A>G
|
rs4577135
|
0.19087
|
NM_002098.6(GUCA1B):c.*1318G>A
|
rs1997980
|
0.19007
|
NM_014336.4(AIPL1):c.-106C>A
|
rs7211442
|
0.10081
|
NM_002098.6(GUCA1B):c.*457A>G
|
rs9471797
|
0.08647
|
NM_000554.5(CRX):c.-116T>C
|
rs10418215
|
0.08435
|
NM_002098.6(GUCA1B):c.*220A>G
|
rs3749920
|
0.07278
|
NM_002098.6(GUCA1B):c.*503G>A
|
rs13211352
|
0.05737
|
NM_006269.1(RP1):c.-154T>C
|
rs74632105
|
0.04591
|
NM_013342.4(TFPT):c.-194G>A
|
rs75629461
|
0.02868
|
NM_002098.6(GUCA1B):c.*480G>A
|
rs113734032
|
0.02758
|
NM_001384910.1(GUCA1A):c.*479C>T
|
rs6899575
|
0.02610
|
NM_002098.6(GUCA1B):c.*429G>A
|
rs114573886
|
0.02273
|
NM_002098.6(GUCA1B):c.*488C>T
|
rs7764586
|
0.02085
|
NM_014336.5(AIPL1):c.111C>T (p.Phe37=)
|
rs11650007
|
0.02008
|
NM_002098.6(GUCA1B):c.*295G>A
|
rs73733110
|
0.01608
|
NM_002098.6(GUCA1B):c.*433A>G
|
rs140024841
|
0.01581
|
NM_002098.6(GUCA1B):c.*477C>T
|
rs143063040
|
0.01574
|
NM_002098.6(GUCA1B):c.*1088G>C
|
rs76451756
|
0.01569
|
NM_002098.6(GUCA1B):c.*1126A>G
|
rs115180990
|
0.01569
|
NM_002098.6(GUCA1B):c.*1203T>C
|
rs75437254
|
0.01565
|
NM_002098.6(GUCA1B):c.*928A>G
|
rs114824449
|
0.01564
|
NM_002098.6(GUCA1B):c.*666G>T
|
rs140229339
|
0.01415
|
NM_001384910.1(GUCA1A):c.567C>T (p.Asp189=)
|
rs34925828
|
0.01271
|
NM_012469.3(PRPF6):c.-119G>A
|
rs115265032
|
0.01259
|
NM_013342.4(TFPT):c.-127G>A
|
rs117225554
|
0.01242
|
NM_002098.6(GUCA1B):c.*618G>A
|
rs150308756
|
0.01146
|
NM_001384910.1(GUCA1A):c.*76C>A
|
rs76792280
|
0.01120
|
NM_014336.5(AIPL1):c.*134G>T
|
rs2090068
|
0.01001
|
NR_148338.1(LOC107986845):n.884G>A
|
rs183121204
|
0.00938
|
NM_014336.5(AIPL1):c.*1178C>T
|
rs149460055
|
0.00841
|
NM_000327.4(ROM1):c.868del (p.Gln290fs)
|
rs548233813
|
0.00807
|
NM_014336.5(AIPL1):c.*1237C>T
|
rs139074266
|
0.00803
|
NM_203288.2(RP9):c.664del (p.Ter222AspextTer?)
|
rs553265417
|
0.00773
|
NM_014336.5(AIPL1):c.*188G>A
|
rs1317185
|
0.00763
|
NM_014336.5(AIPL1):c.642+14G>A
|
rs188779461
|
0.00682
|
NM_002098.6(GUCA1B):c.*581G>A
|
rs138314395
|
0.00660
|
NM_001384910.1(GUCA1A):c.*345G>A
|
rs115636833
|
0.00658
|
NM_014336.5(AIPL1):c.765T>C (p.Asp255=)
|
rs62637018
|
0.00643
|
NM_144631.6(ZNF513):c.1260C>T (p.Leu420=)
|
rs112828880
|
0.00620
|
NM_001384910.1(GUCA1A):c.*331A>G
|
rs45553838
|
0.00510
|
NM_014336.5(AIPL1):c.1126C>T (p.Pro376Ser)
|
rs61757484
|
0.00475
|
NM_014336.5(AIPL1):c.97-9G>A
|
rs140124986
|
0.00457
|
NM_013342.4(TFPT):c.-350G>T
|
rs45619231
|
0.00456
|
NM_001384910.1(GUCA1A):c.*415C>T
|
rs182201426
|
0.00439
|
NM_014336.5(AIPL1):c.267C>T (p.Cys89=)
|
rs62653020
|
0.00366
|
NM_004698.3(PRPF3):c.-133A>G
|
rs3767630
|
0.00352
|
NM_014336.5(AIPL1):c.*390G>T
|
rs182504714
|
0.00334
|
NM_014336.5(AIPL1):c.*221G>A
|
rs112307858
|
0.00302
|
NM_014014.5(SNRNP200):c.*497_*498dup
|
rs148352926
|
0.00265
|
NM_014336.5(AIPL1):c.*53C>T
|
rs151279098
|
0.00200
|
NM_014336.5(AIPL1):c.*1007C>T
|
rs111456528
|
0.00192
|
NM_001387564.1(SMIM27):c.45+129C>T
|
rs187268836
|
0.00185
|
NM_012469.3(PRPF6):c.-147A>C
|
rs553841583
|
0.00172
|
NM_144631.6(ZNF513):c.-91C>T
|
rs530824832
|
0.00169
|
NM_014336.5(AIPL1):c.-17C>A
|
rs188246267
|
0.00132
|
NM_014336.5(AIPL1):c.*33A>C
|
rs140472462
|
0.00126
|
NM_144631.6(ZNF513):c.749G>A (p.Arg250Gln)
|
rs141337532
|
0.00115
|
NM_014336.4(AIPL1):c.-107C>G
|
rs149098937
|
0.00093
|
NM_014336.5(AIPL1):c.780C>T (p.His260=)
|
rs145304845
|
0.00072
|
NM_013342.4(TFPT):c.-330C>T
|
rs587674748
|
0.00071
|
NM_014336.5(AIPL1):c.*824G>C
|
rs145706166
|
0.00065
|
NM_014336.5(AIPL1):c.97-15C>T
|
rs190887679
|
0.00051
|
NM_014748.4(SNX17):c.*697C>T
|
rs560324766
|
0.00051
|
NM_001384910.1(GUCA1A):c.*10C>A
|
rs367804008
|
0.00048
|
NM_014336.4(AIPL1):c.-52G>T
|
rs377376064
|
0.00048
|
NM_014336.5(AIPL1):c.*150A>C
|
rs886053266
|
0.00046
|
NM_014748.4(SNX17):c.*692T>C
|
rs754539683
|
0.00028
|
NM_006445.4(PRPF8):c.1253C>G (p.Thr418Ser)
|
rs142411659
|
0.00024
|
NM_144631.6(ZNF513):c.1568G>A (p.Arg523Gln)
|
rs371030335
|
0.00024
|
NM_014336.5(AIPL1):c.*748C>T
|
rs543789961
|
0.00023
|
NM_000327.3(ROM1):c.-159delA
|
rs879752924
|
0.00021
|
NM_014336.5(AIPL1):c.737A>C (p.Tyr246Ser)
|
rs138585919
|
0.00021
|
NM_144631.6(ZNF513):c.-24C>A
|
rs780603445
|
0.00019
|
NM_014336.5(AIPL1):c.1108C>T (p.Pro370Ser)
|
rs139079107
|
0.00017
|
NM_144631.6(ZNF513):c.950G>A (p.Arg317Gln)
|
rs201047611
|
0.00016
|
NM_014336.5(AIPL1):c.*1534G>A
|
rs780946014
|
0.00014
|
NM_014336.5(AIPL1):c.*153del
|
rs886053264
|
0.00013
|
NM_144631.6(ZNF513):c.-48G>C
|
rs563171952
|
0.00012
|
NM_015629.4(PRPF31):c.*224_*228dup
|
rs587763567
|
0.00011
|
NM_014336.5(AIPL1):c.*23C>G
|
rs369568105
|
0.00010
|
NM_014014.4(SNRNP200):c.-114T>C
|
rs368747373
|
0.00008
|
NM_014336.4(AIPL1):c.-73A>G
|
rs751249166
|
0.00008
|
NM_014336.5(AIPL1):c.*280G>A
|
rs886053261
|
0.00007
|
NM_144631.6(ZNF513):c.-51C>T
|
rs770982327
|
0.00007
|
NM_144631.6(ZNF513):c.619C>T (p.Arg207Cys)
|
rs140620118
|
0.00007
|
NM_000717.4(CA4):c.-76G>C
|
rs543743714
|
0.00006
|
NM_014336.5(AIPL1):c.616A>G (p.Ile206Val)
|
rs772911646
|
0.00005
|
NM_144631.6(ZNF513):c.1015T>C (p.Cys339Arg)
|
rs267607182
|
0.00005
|
NM_144631.6(ZNF513):c.740G>A (p.Arg247Gln)
|
rs139008988
|
0.00004
|
NM_004698.3(PRPF3):c.-139G>A
|
rs868986702
|
0.00003
|
NM_014336.5(AIPL1):c.785-11G>A
|
rs199772097
|
0.00003
|
NM_001387564.1(SMIM27):c.45+148A>G
|
rs886063856
|
0.00002
|
NM_014336.4(AIPL1):c.-21A>G
|
rs373772674
|
0.00002
|
NM_000322.4(PRPH2):c.-282G>A
|
rs886061408
|
0.00001
|
NM_000322.5(PRPH2):c.649A>G (p.Ser217Gly)
|
rs767471467
|
0.00001
|
NM_000717.5(CA4):c.449C>T (p.Ser150Leu)
|
rs867271887
|
0.00001
|
NM_002098.6(GUCA1B):c.*219_*220del
|
rs779998898
|
0.00001
|
NM_014336.5(AIPL1):c.359C>T (p.Thr120Met)
|
rs144579083
|
0.00001
|
NM_014336.5(AIPL1):c.639C>T (p.Thr213=)
|
rs371485219
|
0.00001
|
NM_144631.6(ZNF513):c.-125G>T
|
rs886055909
|
0.00001
|
NM_144631.6(ZNF513):c.322C>A (p.Pro108Thr)
|
rs374110410
|
0.00001
|
NM_000322.5(PRPH2):c.*468_*469del
|
rs886061401
|
|
NM_000322.5(PRPH2):c.*483_*484dup
|
rs55851577
|
|
NM_000322.5(PRPH2):c.*484del
|
rs55851577
|
|
NM_000327.3(ROM1):c.-478delG
|
rs886048436
|
|
NM_000554.6(CRX):c.*1621_*1623dup
|
rs59559801
|
|
NM_000554.6(CRX):c.*1654dup
|
rs138321430
|
|
NM_000554.6(CRX):c.*1900del
|
rs796977583
|
|
NM_000554.6(CRX):c.*308AAG[2]
|
rs398059782
|
|
NM_000554.6(CRX):c.*435del
|
rs886054551
|
|
NM_000554.6(CRX):c.*754_*756dup
|
rs60558029
|
|
NM_000554.6(CRX):c.*756dup
|
rs60558029
|
|
NM_001031710.3(KLHL7):c.443-10_443-9del
|
rs774048435
|
|
NM_001354768.3(NRL):c.*283del
|
rs200281199
|
|
NM_004698.3(PRPF3):c.-118T>C
|
rs886045259
|
|
NM_004698.3(PRPF3):c.-149_-147CGG[4]
|
rs886045257
|
|
NM_004698.4(PRPF3):c.*145_*151del
|
rs886045264
|
|
NM_005802.5(TOPORS):c.*139del
|
rs140010425
|
|
NM_005802.5(TOPORS):c.*139dup
|
rs140010425
|
|
NM_005802.5(TOPORS):c.*362del
|
rs34721491
|
|
NM_005802.5(TOPORS):c.*647dup
|
rs886063850
|
|
NM_005802.5(TOPORS):c.*733_*737del
|
rs201977387
|
|
NM_005802.5(TOPORS):c.264A>G (p.Lys88=)
|
rs886063855
|
|
NM_006269.2(RP1):c.*179_*181del
|
rs140712625
|
|
NM_006269.2(RP1):c.*260_*261dup
|
rs10654889
|
|
NM_006269.2(RP1):c.*261dup
|
rs10654889
|
|
NM_006445.4(PRPF8):c.2182-6dup
|
rs779420760
|
|
NM_006445.4(PRPF8):c.645C>T (p.Asp215=)
|
rs758699232
|
|
NM_012469.4(PRPF6):c.1770-11_1770-10del
|
rs886056962
|
|
NM_014336.5(AIPL1):c.*1289G>A
|
rs11869118
|
|
NM_014336.5(AIPL1):c.*1398G>A
|
rs886053259
|
|
NM_014336.5(AIPL1):c.*150_*151insCAA
|
rs200523461
|
|
NM_014336.5(AIPL1):c.*151_*152del
|
rs77115868
|
|
NM_014336.5(AIPL1):c.*151_*152dup
|
rs77115868
|
|
NM_014336.5(AIPL1):c.*1537C>A
|
rs886053255
|
|
NM_014336.5(AIPL1):c.*153_*154del
|
rs886053263
|
|
NM_014336.5(AIPL1):c.*153_*155del
|
rs886053262
|
|
NM_014336.5(AIPL1):c.*1550A>C
|
rs181055698
|
|
NM_014336.5(AIPL1):c.*1568G>A
|
rs11869066
|
|
NM_014336.5(AIPL1):c.*730dup
|
rs559951043
|
|
NM_014336.5(AIPL1):c.*887CAAAA[2]
|
rs375369909
|
|
NM_014748.4(SNX17):c.*554_*558del
|
rs886055906
|
|
NM_015629.3(PRPF31):c.-113G>C
|
rs17526361
|
|
NM_015629.3(PRPF31):c.-127G>A
|
rs587601857
|
|
NM_144631.5(ZNF513):c.-213G>A
|
rs886055911
|
|
NM_144631.6(ZNF513):c.-103G>A
|
rs552236644
|
|
NM_144631.6(ZNF513):c.-203dup
|
rs886055910
|
|
NM_144631.6(ZNF513):c.536_537insGC (p.Cys180fs)
|
rs1558312832
|
|
NM_144631.6(ZNF513):c.556G>A (p.Ala186Thr)
|
rs886055908
|
|
NM_144631.6(ZNF513):c.605G>T (p.Gly202Val)
|
rs886055907
|
|
NM_174878.3(CLRN1):c.*265AT[5]
|
rs550716419
|
|
NM_174878.3(CLRN1):c.*277GT[11]
|
rs34027634
|
|
NM_174878.3(CLRN1):c.*277GT[12]
|
rs34027634
|
|
NM_174878.3(CLRN1):c.*277GT[13]
|
rs34027634
|
|
NM_174878.3(CLRN1):c.*277GT[15]
|
rs34027634
|
|
NM_174878.3(CLRN1):c.*277GT[16]
|
rs34027634
|
|