NM_004744.5(LRAT):c.*2670G>T
|
rs17032000
|
0.13064
|
NM_014336.4(AIPL1):c.-106C>A
|
rs7211442
|
0.10081
|
NM_004744.5(LRAT):c.*1338T>G
|
rs12507608
|
0.09793
|
NM_004744.5(LRAT):c.342G>A (p.Glu114=)
|
rs17031981
|
0.09214
|
NM_004744.5(LRAT):c.*3618G>A
|
rs17032002
|
0.02639
|
NC_000007.14:g.128392274G>A
|
rs183121204
|
0.00938
|
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln)
|
rs188164241
|
0.00405
|
NM_201253.3(CRB1):c.600A>G (p.Thr200=)
|
rs77713666
|
0.00254
|
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys)
|
rs182369459
|
0.00241
|
NM_025114.4(CEP290):c.3790C>T (p.Arg1264Cys)
|
rs139998038
|
0.00187
|
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His)
|
rs183655276
|
0.00187
|
NM_201253.3(CRB1):c.2307C>T (p.Arg769=)
|
rs151104285
|
0.00143
|
NM_025114.4(CEP290):c.4102G>A (p.Asp1368Asn)
|
rs184143186
|
0.00138
|
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=)
|
rs201838492
|
0.00133
|
NM_014336.4(AIPL1):c.-107C>G
|
rs149098937
|
0.00093
|
NM_025114.4(CEP290):c.4806G>A (p.Thr1602=)
|
rs201614215
|
0.00091
|
NM_201253.3(CRB1):c.3992G>A (p.Arg1331His)
|
rs62636285
|
0.00078
|
NM_000329.3(RPE65):c.48T>C (p.Phe16=)
|
rs62642581
|
0.00059
|
NM_000329.3(RPE65):c.117C>T (p.Thr39=)
|
rs143929144
|
0.00050
|
NM_001122769.3(LCA5):c.1215T>G (p.Val405=)
|
rs41270545
|
0.00050
|
NM_201253.3(CRB1):c.614T>C (p.Ile205Thr)
|
rs62645749
|
0.00049
|
NM_025114.4(CEP290):c.2595C>T (p.Leu865=)
|
rs114632733
|
0.00046
|
NM_152443.3(RDH12):c.579C>T (p.Arg193=)
|
rs142117351
|
0.00037
|
NM_201253.3(CRB1):c.2976A>G (p.Ala992=)
|
rs200379694
|
0.00035
|
NM_025114.4(CEP290):c.1908A>T (p.Lys636Asn)
|
rs199747962
|
0.00032
|
NM_201253.3(CRB1):c.866C>T (p.Thr289Met)
|
rs62636263
|
0.00025
|
NM_025114.4(CEP290):c.4182G>A (p.Val1394=)
|
rs371530941
|
0.00024
|
NM_001122769.3(LCA5):c.338A>G (p.Asn113Ser)
|
rs181890907
|
0.00020
|
NM_025114.4(CEP290):c.1918T>C (p.Leu640=)
|
rs541138095
|
0.00017
|
NM_025114.4(CEP290):c.3955T>C (p.Leu1319=)
|
rs182851622
|
0.00016
|
NM_152443.3(RDH12):c.384A>G (p.Val128=)
|
rs139881477
|
0.00015
|
NM_001122769.3(LCA5):c.1746C>T (p.Asn582=)
|
rs183011135
|
0.00014
|
NM_001122769.3(LCA5):c.222A>T (p.Pro74=)
|
rs148386543
|
0.00014
|
NM_025114.4(CEP290):c.3135A>G (p.Lys1045=)
|
rs370622537
|
0.00014
|
NM_025114.4(CEP290):c.3442C>G (p.Leu1148Val)
|
rs372190684
|
0.00014
|
NM_201253.3(CRB1):c.664G>A (p.Glu222Lys)
|
rs114846212
|
0.00014
|
NM_025114.4(CEP290):c.1667T>A (p.Ile556Asn)
|
rs727503854
|
0.00012
|
NM_201253.3(CRB1):c.2714G>A (p.Arg905Gln)
|
rs114052315
|
0.00011
|
NM_201253.3(CRB1):c.3171C>T (p.Asn1057=)
|
rs62636284
|
0.00010
|
NM_000329.3(RPE65):c.295G>A (p.Val99Ile)
|
rs143056561
|
0.00009
|
NM_201253.3(CRB1):c.2809G>A (p.Ala937Thr)
|
rs114630940
|
0.00009
|
NM_000329.3(RPE65):c.585C>T (p.Cys195=)
|
rs571111378
|
0.00007
|
NM_000329.3(RPE65):c.1086A>G (p.Gln362=)
|
rs750890448
|
0.00006
|
NM_025114.4(CEP290):c.6909A>C (p.Ala2303=)
|
rs774138995
|
0.00006
|
NM_201253.3(CRB1):c.1014C>T (p.Ile338=)
|
rs771549675
|
0.00006
|
NM_201253.3(CRB1):c.1746A>G (p.Leu582=)
|
rs550119977
|
0.00006
|
NM_201253.3(CRB1):c.447C>T (p.His149=)
|
rs576678571
|
0.00005
|
NM_000329.3(RPE65):c.75G>A (p.Pro25=)
|
rs199529021
|
0.00004
|
NM_000329.3(RPE65):c.94+10G>A
|
rs777879312
|
0.00004
|
NM_000329.3(RPE65):c.942C>T (p.His314=)
|
rs752875512
|
0.00004
|
NM_025114.4(CEP290):c.1905T>C (p.Asn635=)
|
rs778341097
|
0.00004
|
NM_025114.4(CEP290):c.2244T>C (p.Ser748=)
|
rs979564116
|
0.00004
|
NM_025114.4(CEP290):c.288T>C (p.Asn96=)
|
rs367691481
|
0.00004
|
NM_152443.3(RDH12):c.320C>A (p.Ala107Asp)
|
rs775717423
|
0.00004
|
NM_001122769.3(LCA5):c.1099-9G>A
|
rs546754454
|
0.00003
|
NM_001122769.3(LCA5):c.1668C>T (p.Tyr556=)
|
rs376479835
|
0.00003
|
NM_001122769.3(LCA5):c.897T>C (p.Ser299=)
|
rs767145624
|
0.00003
|
NM_025114.4(CEP290):c.3246C>T (p.His1082=)
|
rs539042966
|
0.00003
|
NM_025114.4(CEP290):c.5577T>C (p.Ser1859=)
|
rs1481341836
|
0.00002
|
NM_152443.3(RDH12):c.621T>C (p.Asn207=)
|
rs747183193
|
0.00002
|
NM_201253.3(CRB1):c.1452C>T (p.Thr484=)
|
rs372844443
|
0.00002
|
NM_000329.3(RPE65):c.886A>C (p.Arg296=)
|
rs1399365841
|
0.00001
|
NM_025114.4(CEP290):c.5259A>C (p.Ala1753=)
|
rs747328752
|
0.00001
|
NM_025114.4(CEP290):c.5385T>C (p.Asn1795=)
|
rs1452561924
|
0.00001
|
NM_025114.4(CEP290):c.6132T>G (p.Pro2044=)
|
rs765002773
|
0.00001
|
NM_025114.4(CEP290):c.6642A>G (p.Lys2214=)
|
rs1409872235
|
0.00001
|
NM_201253.3(CRB1):c.1206T>C (p.Ser402=)
|
rs373229699
|
0.00001
|
NM_201253.3(CRB1):c.1479C>T (p.Phe493=)
|
rs770919155
|
0.00001
|
NM_201253.3(CRB1):c.1752C>T (p.Asp584=)
|
rs750442312
|
0.00001
|
NM_201253.3(CRB1):c.1977G>A (p.Ser659=)
|
rs1457627160
|
0.00001
|
NM_201253.3(CRB1):c.1995T>C (p.Asn665=)
|
rs774597710
|
0.00001
|
NM_201253.3(CRB1):c.207C>T (p.Asn69=)
|
rs1302750453
|
0.00001
|
NM_201253.3(CRB1):c.2286T>C (p.Tyr762=)
|
rs1192399919
|
0.00001
|
NM_201253.3(CRB1):c.2823G>A (p.Pro941=)
|
rs62645757
|
0.00001
|
NM_201253.3(CRB1):c.3042T>C (p.Ser1014=)
|
rs374426440
|
0.00001
|
NM_201253.3(CRB1):c.763C>T (p.Leu255=)
|
rs1659649148
|
0.00001
|
NM_201253.3(CRB1):c.957T>C (p.Ser319=)
|
rs765228022
|
0.00001
|
NM_000554.6(CRX):c.*1654dup
|
rs138321430
|
|
NM_001164688.2(RD3):c.*1307_*1308insCT
|
rs142577368
|
|
NM_002242.4(KCNJ13):c.-74CT[1]
|
rs5839447
|
|
NM_003322.6(TULP1):c.*273del
|
rs112061946
|
|
NM_004744.5(LRAT):c.*2258_*2259insTGTTGTGCTGAGTTT
|
rs372786858
|
|
NM_014336.5(AIPL1):c.*151_*152del
|
rs77115868
|
|
NM_025114.4(CEP290):c.*19_*22del
|
rs142288119
|
|
NM_025114.4(CEP290):c.1789T>C (p.Leu597=)
|
rs2039096949
|
|
NM_025114.4(CEP290):c.4578G>A (p.Glu1526=)
|
rs775294433
|
|
NM_025114.4(CEP290):c.5391T>C (p.Asn1797=)
|
rs1034544936
|
|
NM_025114.4(CEP290):c.6001T>C (p.Leu2001=)
|
rs112738303
|
|
NM_025114.4(CEP290):c.6165T>C (p.Cys2055=)
|
rs2034700190
|
|
NM_152443.3(RDH12):c.39G>A (p.Ser13=)
|
rs146672918
|
|
NM_152443.3(RDH12):c.474C>G (p.Leu158=)
|
rs755916691
|
|
NM_152443.3(RDH12):c.474C>T (p.Leu158=)
|
rs755916691
|
|
NM_152443.3(RDH12):c.552C>T (p.Pro184=)
|
rs1453486367
|
|
NM_152443.3(RDH12):c.931C>T (p.Leu311=)
|
rs201458213
|
|
NM_201253.3(CRB1):c.1428C>G (p.Thr476=)
|
rs62636282
|
|
NM_201253.3(CRB1):c.2316A>G (p.Leu772=)
|
rs964544440
|
|
NM_201253.3(CRB1):c.4005+4AGC[3]
|
rs550852869
|
|