NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile)
|
rs1801466
|
0.04126
|
NM_000350.3(ABCA4):c.4253+43G>A
|
rs61754045
|
0.00486
|
NM_033100.4(CDHR1):c.783G>A (p.Pro261=)
|
rs147346345
|
0.00446
|
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu)
|
rs41292677
|
0.00308
|
NM_001371596.2(MFSD8):c.1006G>C (p.Glu336Gln)
|
rs150418024
|
0.00299
|
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)
|
rs1800553
|
0.00269
|
NM_019098.5(CNGB3):c.1148del (p.Thr383fs)
|
rs397515360
|
0.00183
|
NM_000350.3(ABCA4):c.5714+5G>A
|
rs61751407
|
0.00036
|
NM_000350.3(ABCA4):c.514G>A (p.Gly172Ser)
|
rs61748532
|
0.00033
|
NM_004183.4(BEST1):c.422G>A (p.Arg141His)
|
rs121918284
|
0.00033
|
NM_025114.4(CEP290):c.2991+1655A>G
|
rs281865192
|
0.00029
|
NM_000322.5(PRPH2):c.94A>G (p.Ile32Val)
|
rs61755767
|
0.00026
|
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu)
|
rs61750130
|
0.00023
|
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe)
|
rs61751408
|
0.00018
|
NM_004183.4(BEST1):c.584C>T (p.Ala195Val)
|
rs200277476
|
0.00016
|
NM_207352.4(CYP4V2):c.1198C>T (p.Arg400Cys)
|
rs138444697
|
0.00010
|
NM_001297.5(CNGB1):c.2662G>A (p.Ala888Thr)
|
rs368328328
|
0.00009
|
NM_000350.3(ABCA4):c.5329A>T (p.Met1777Leu)
|
rs375184282
|
0.00008
|
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys)
|
rs61750200
|
0.00008
|
NM_000350.3(ABCA4):c.768G>T (p.Val256=)
|
rs62645944
|
0.00006
|
NM_000350.3(ABCA4):c.1819G>A (p.Gly607Arg)
|
rs61749412
|
0.00004
|
NM_001298.3(CNGA3):c.1687C>T (p.Arg563Cys)
|
rs150153987
|
0.00004
|
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys)
|
rs62635654
|
0.00004
|
NM_000350.3(ABCA4):c.4328G>A (p.Arg1443His)
|
rs61750142
|
0.00003
|
NM_000350.3(ABCA4):c.5381C>A (p.Ala1794Asp)
|
rs61751406
|
0.00003
|
NM_000350.3(ABCA4):c.5413A>G (p.Asn1805Asp)
|
rs61753029
|
0.00003
|
NM_001012720.2(RGR):c.236G>A (p.Arg79Gln)
|
rs761554381
|
0.00003
|
NM_001371596.2(MFSD8):c.754+2T>A
|
rs587778809
|
0.00003
|
NM_004183.4(BEST1):c.388C>A (p.Arg130Ser)
|
rs750102662
|
0.00003
|
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp)
|
rs61749409
|
0.00002
|
NM_000350.3(ABCA4):c.2932G>A (p.Gly978Ser)
|
rs61749452
|
0.00002
|
NM_000350.3(ABCA4):c.4739T>C (p.Leu1580Ser)
|
rs777415466
|
0.00002
|
NM_001298.3(CNGA3):c.1126G>A (p.Glu376Lys)
|
rs1377555853
|
0.00002
|
NM_019098.5(CNGB3):c.1578+1G>A
|
rs372006750
|
0.00002
|
NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp)
|
rs61755783
|
0.00001
|
NM_000330.4(RS1):c.304C>T (p.Arg102Trp)
|
rs61752067
|
0.00001
|
NM_000330.4(RS1):c.544C>T (p.Arg182Cys)
|
rs61753171
|
0.00001
|
NM_000350.3(ABCA4):c.184C>T (p.Pro62Ser)
|
rs1355238974
|
0.00001
|
NM_000350.3(ABCA4):c.1903C>T (p.Gln635Ter)
|
rs61749414
|
0.00001
|
NM_000350.3(ABCA4):c.1957C>T (p.Arg653Cys)
|
rs61749420
|
0.00001
|
NM_000350.3(ABCA4):c.1A>G (p.Met1Val)
|
rs201738997
|
0.00001
|
NM_000350.3(ABCA4):c.214G>A (p.Gly72Arg)
|
rs61751412
|
0.00001
|
NM_000350.3(ABCA4):c.2160+1G>T
|
rs61749427
|
0.00001
|
NM_000350.3(ABCA4):c.2291G>A (p.Cys764Tyr)
|
rs61749428
|
0.00001
|
NM_000350.3(ABCA4):c.2401G>A (p.Ala801Thr)
|
rs374410829
|
0.00001
|
NM_000350.3(ABCA4):c.247_250dup (p.Ser84fs)
|
rs1005271380
|
0.00001
|
NM_000350.3(ABCA4):c.3523-1G>A
|
rs766239144
|
0.00001
|
NM_000350.3(ABCA4):c.4352+1G>A
|
rs200967229
|
0.00001
|
NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg)
|
rs61750146
|
0.00001
|
NM_000350.3(ABCA4):c.454C>T (p.Arg152Ter)
|
rs62646861
|
0.00001
|
NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln)
|
rs61751403
|
0.00001
|
NM_000350.3(ABCA4):c.4978C>T (p.Pro1660Ser)
|
rs1211325812
|
0.00001
|
NM_000350.3(ABCA4):c.5018+2T>C
|
rs61750562
|
0.00001
|
NM_000350.3(ABCA4):c.5316G>A (p.Trp1772Ter)
|
rs61750571
|
0.00001
|
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter)
|
rs61751383
|
0.00001
|
NM_000350.3(ABCA4):c.6122G>A (p.Gly2041Asp)
|
rs1462350577
|
0.00001
|
NM_000350.3(ABCA4):c.6282+1G>C
|
rs770453727
|
0.00001
|
NM_000554.6(CRX):c.118C>T (p.Arg40Trp)
|
rs749738655
|
0.00001
|
NM_001371596.2(MFSD8):c.670A>T (p.Asn224Tyr)
|
rs1156864297
|
0.00001
|
NM_004183.4(BEST1):c.638A>G (p.Glu213Gly)
|
rs748685592
|
0.00001
|
NM_004183.4(BEST1):c.653G>A (p.Arg218His)
|
rs281865239
|
0.00001
|
NM_006017.3(PROM1):c.1142-1G>A
|
rs752619497
|
0.00001
|
NM_019098.5(CNGB3):c.1167_1168insC (p.Glu390fs)
|
rs1389959147
|
0.00001
|
NM_201253.3(CRB1):c.547T>C (p.Cys183Arg)
|
rs1658691162
|
0.00001
|
NM_207352.4(CYP4V2):c.283G>A (p.Gly95Arg)
|
rs199476187
|
0.00001
|
NC_000009.11:g.2716981_2787016del
|
|
|
NM_000180.4(GUCY2D):c.129_134del (p.Leu44_Leu45del)
|
rs552184470
|
|
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His)
|
rs61750173
|
|
NM_000180.4(GUCY2D):c.929C>A (p.Thr310Asn)
|
rs1975693830
|
|
NM_000322.5(PRPH2):c.422A>G (p.Tyr141Cys)
|
rs61755781
|
|
NM_000322.5(PRPH2):c.512T>G (p.Phe171Cys)
|
rs1761906682
|
|
NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp)
|
rs61755792
|
|
NM_000322.5(PRPH2):c.605G>A (p.Gly202Glu)
|
rs1800117660
|
|
NM_000322.5(PRPH2):c.611_626del (p.Tyr204fs)
|
rs1800116472
|
|
NM_000330.4(RS1):c.150G>A (p.Trp50Ter)
|
rs200866925
|
|
NM_000330.4(RS1):c.209G>A (p.Gly70Asp)
|
rs62645895
|
|
NM_000330.4(RS1):c.53-713_78+266del
|
|
|
NM_000330.4(RS1):c.598C>T (p.Arg200Cys)
|
rs281865357
|
|
NM_000350.2(ABCA4):c.[1622T>C;3113C>T]
|
|
|
NM_000350.2:c.(2918+765_2918+775)_(3328+618_3328+662)del
|
|
|
NM_000350.3(ABCA4):c.160T>G (p.Cys54Gly)
|
rs886044720
|
|
NM_000350.3(ABCA4):c.1621_1622del (p.Leu541fs)
|
rs1553192715
|
|
NM_000350.3(ABCA4):c.1742C>A (p.Thr581Asn)
|
rs1661175744
|
|
NM_000350.3(ABCA4):c.1846G>A (p.Glu616Lys)
|
rs1557787473
|
|
NM_000350.3(ABCA4):c.1988G>A (p.Trp663Ter)
|
rs865990202
|
|
NM_000350.3(ABCA4):c.2005_2006del (p.Met669fs)
|
rs61749422
|
|
NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter)
|
rs61749423
|
|
NM_000350.3(ABCA4):c.2947A>G (p.Thr983Ala)
|
rs1368508052
|
|
NM_000350.3(ABCA4):c.3179A>C (p.Gln1060Pro)
|
rs772663974
|
|
NM_000350.3(ABCA4):c.3210_3211dup (p.Ser1071fs)
|
rs387906385
|
|
NM_000350.3(ABCA4):c.3323del (p.Arg1108fs)
|
rs1660527879
|
|
NM_000350.3(ABCA4):c.428del (p.Pro143fs)
|
rs1662504407
|
|
NM_000350.3(ABCA4):c.4383G>C (p.Trp1461Cys)
|
rs1347261858
|
|
NM_000350.3(ABCA4):c.4539+2064C>T
|
rs1553189179
|
|
NM_000350.3(ABCA4):c.4609del (p.Thr1537fs)
|
rs1659998657
|
|
NM_000350.3(ABCA4):c.4873C>T (p.His1625Tyr)
|
rs1085307968
|
|
NM_000350.3(ABCA4):c.4958G>A (p.Gly1653Glu)
|
rs1659888526
|
|
NM_000350.3(ABCA4):c.5172G>A (p.Trp1724Ter)
|
rs1557767754
|
|
NM_000350.3(ABCA4):c.5196+1056A>G
|
rs886044749
|
|
NM_000350.3(ABCA4):c.5196+2T>C
|
rs61751405
|
|
NM_000350.3(ABCA4):c.5311G>A (p.Gly1771Arg)
|
rs374015407
|
|
NM_000350.3(ABCA4):c.5377G>A (p.Val1793Met)
|
rs1659672463
|
|
NM_000350.3(ABCA4):c.5461-6T>C
|
rs1659543067
|
|
NM_000350.3(ABCA4):c.5690_5704del (p.Gln1897_Phe1901del)
|
rs1659522195
|
|
NM_000350.3(ABCA4):c.5691G>T (p.Gln1897His)
|
rs771092150
|
|
NM_000350.3(ABCA4):c.571-2A>T
|
rs61748534
|
|
NM_000350.3(ABCA4):c.5762_5763del (p.Val1921fs)
|
rs1659469884
|
|
NM_000350.3(ABCA4):c.5924G>T (p.Gly1975Val)
|
rs1659429594
|
|
NM_000350.3(ABCA4):c.5942C>G (p.Thr1981Arg)
|
rs752147871
|
|
NM_000350.3(ABCA4):c.61C>T (p.Gln21Ter)
|
rs770272033
|
|
NM_000350.3(ABCA4):c.6238_6239del (p.Ser2080fs)
|
rs281865382
|
|
NM_000350.3(ABCA4):c.6323_6331delinsGGC (p.Met2108_Asn2111delinsArgHis)
|
rs1659159979
|
|
NM_000350.3(ABCA4):c.6428T>A (p.Met2143Lys)
|
rs1659153516
|
|
NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter)
|
rs61753046
|
|
NM_000350.3(ABCA4):c.6731T>A (p.Val2244Glu)
|
rs1658995249
|
|
NM_000350.3(ABCA4):c.676C>A (p.Arg226Ser)
|
rs149780335
|
|
NM_000350.3(ABCA4):c.727_728dup (p.Tyr245fs)
|
rs1662208443
|
|
NM_000350.3(ABCA4):c.735T>G (p.Tyr245Ter)
|
rs1662208035
|
|
NM_000350.3(ABCA4):c.[1610G>A;5603A>T]
|
|
|
NM_000350.3(ABCA4):c.[2588G>C;5603A>T]
|
|
|
NM_000350.3(ABCA4):c.[3322C>T;6320G>A]
|
|
|
NM_000350.3(ABCA4):c.[52C>T;5603A>T]
|
|
|
NM_000350.3(ABCA4):c.[5461-10T>C;5603A>T]
|
|
|
NM_000350.3(ABCA4):c.[5603A>T;5714+5G>A]
|
|
|
NM_001029883.3(PCARE):c.3002G>A (p.Trp1001Ter)
|
rs367658438
|
|
NM_001034853.2(RPGR):c.2008_2017del (p.Gln670fs)
|
rs2067196699
|
|
NM_001034853.2(RPGR):c.2426_2427del (p.Glu809fs)
|
rs730882261
|
|
NM_001034853.2(RPGR):c.2586_2587del (p.Glu863fs)
|
rs2067170858
|
|
NM_001034853.2(RPGR):c.2819_2838dup (p.Glu947fs)
|
rs2067149319
|
|
NM_001039348.3(EFEMP1):c.1033C>T (p.Arg345Trp)
|
rs121434491
|
|
NM_001297.5(CNGB1):c.1658C>A (p.Ala553Glu)
|
rs374424738
|
|
NM_001384910.1(GUCA1A):c.333G>C (p.Glu111Asp)
|
rs1768018709
|
|
NM_002242.4(KCNJ13):c.484C>T (p.Arg162Trp)
|
rs121918542
|
|
NM_004183.4(BEST1):c.-37+1G>T
|
rs1555096248
|
|
NM_004183.4(BEST1):c.658C>T (p.Gln220Ter)
|
rs775283269
|
|
NM_004183.4(BEST1):c.728C>T (p.Ala243Val)
|
rs28940570
|
|
NM_004183.4(BEST1):c.73C>T (p.Arg25Trp)
|
rs281865214
|
|
NM_004183.4(BEST1):c.881TCA[1] (p.Ile295del)
|
rs121918283
|
|
NM_004183.4(BEST1):c.907G>T (p.Asp303Tyr)
|
rs1941816094
|
|
NM_006017.3(PROM1):c.2476G>C (p.Asp826His)
|
rs1333833629
|
|
NM_006017.3(PROM1):c.380G>A (p.Gly127Glu)
|
rs1733212554
|
|
NM_006204.4(PDE6C):c.864+1G>A
|
rs1023522305
|
|
NM_006269.1:c.-12-1431_*286del
|
|
|
NM_006269.2(RP1):c.2613dup (p.Arg872fs)
|
rs1449723475
|
|
NM_006915.3(RP2):c.884-9T>A
|
rs1428719874
|
|
NM_014014.5(SNRNP200):c.1634G>A (p.Arg545His)
|
rs2063918355
|
|
NM_022726.4(ELOVL4):c.810C>G (p.Tyr270Ter)
|
rs104893946
|
|
NM_025114.4(CEP290):c.6604del (p.Ile2202fs)
|
rs758329611
|
|
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs)
|
rs794727197
|
|
NM_130837.3(OPA1):c.1890_1891del (p.Glu630fs)
|
rs1711513680
|
|
NM_130837.3(OPA1):c.2873_2876del
|
rs80356530
|
|
NM_130837.3(OPA1):c.2987A>C (p.Lys996Thr)
|
rs1721758840
|
|
NM_133497.4(KCNV2):c.1096del (p.Val366fs)
|
rs1486482604
|
|
NM_133497.4(KCNV2):c.1381G>A (p.Gly461Arg)
|
rs149648640
|
|
NM_178857.6(RP1L1):c.1024_1026delinsCTCCT (p.Arg342fs)
|
rs1797899160
|
|
NM_178857.6(RP1L1):c.196G>C (p.Asp66His)
|
rs760478436
|
|
NM_201253.3(CRB1):c.1472A>T (p.Asp491Val)
|
rs1664299898
|
|
NM_201253.3(CRB1):c.2230C>T (p.Arg744Ter)
|
rs150412614
|
|
NM_201253.3(CRB1):c.2298G>A (p.Trp766Ter)
|
rs1664656299
|
|
NM_201253.3(CRB1):c.2687G>C (p.Cys896Ser)
|
rs1571544334
|
|
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del)
|
rs398124615
|
|