NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)
|
rs76157638
|
0.00445
|
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe)
|
rs28938473
|
0.00362
|
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)
|
rs1800553
|
0.00269
|
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)
|
rs61751374
|
0.00178
|
NM_000350.3(ABCA4):c.2791G>A (p.Val931Met)
|
rs58331765
|
0.00136
|
NM_000350.3(ABCA4):c.5714+5G>A
|
rs61751407
|
0.00036
|
NM_004183.4(BEST1):c.422G>A (p.Arg141His)
|
rs121918284
|
0.00033
|
NM_000350.3(ABCA4):c.5461-10T>C
|
rs1800728
|
0.00031
|
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu)
|
rs61750130
|
0.00023
|
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys)
|
rs61750120
|
0.00019
|
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe)
|
rs61751408
|
0.00018
|
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro)
|
rs61751392
|
0.00017
|
NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met)
|
rs61750152
|
0.00016
|
NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu)
|
rs61750145
|
0.00009
|
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys)
|
rs61750200
|
0.00008
|
NM_000350.3(ABCA4):c.2894A>G (p.Asn965Ser)
|
rs201471607
|
0.00007
|
NM_000350.3(ABCA4):c.4328G>A (p.Arg1443His)
|
rs61750142
|
0.00003
|
NM_000350.3(ABCA4):c.4793C>A (p.Ala1598Asp)
|
rs61750155
|
0.00003
|
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp)
|
rs61751404
|
0.00003
|
NM_000350.3(ABCA4):c.5819T>C (p.Leu1940Pro)
|
rs61753033
|
0.00003
|
NM_133497.4(KCNV2):c.357dup (p.Lys120fs)
|
rs1402837406
|
0.00003
|
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp)
|
rs61749409
|
0.00002
|
NM_000350.3(ABCA4):c.3050+5G>A
|
rs61751262
|
0.00002
|
NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter)
|
rs61755771
|
0.00001
|
NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp)
|
rs61755783
|
0.00001
|
NM_000322.5(PRPH2):c.828+3A>T
|
rs281865373
|
0.00001
|
NM_000350.3(ABCA4):c.3064G>A (p.Glu1022Lys)
|
rs61749459
|
0.00001
|
NM_000350.3(ABCA4):c.3106G>A (p.Glu1036Lys)
|
rs61750061
|
0.00001
|
NM_000350.3(ABCA4):c.32T>C (p.Leu11Pro)
|
rs62645946
|
0.00001
|
NM_000350.3(ABCA4):c.3482G>A (p.Arg1161His)
|
rs768278935
|
0.00001
|
NM_000350.3(ABCA4):c.4253+5G>A
|
rs61750138
|
0.00001
|
NM_000350.3(ABCA4):c.428C>T (p.Pro143Leu)
|
rs62646860
|
0.00001
|
NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln)
|
rs61751403
|
0.00001
|
NM_000350.3(ABCA4):c.5316G>A (p.Trp1772Ter)
|
rs61750571
|
0.00001
|
NM_000350.3(ABCA4):c.5318C>T (p.Ala1773Val)
|
rs760549861
|
0.00001
|
NM_000350.3(ABCA4):c.5327C>T (p.Pro1776Leu)
|
rs1553187939
|
0.00001
|
NM_000350.3(ABCA4):c.5774G>T (p.Arg1925Ile)
|
rs1208195953
|
0.00001
|
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter)
|
rs61751383
|
0.00001
|
NM_000350.3(ABCA4):c.6563T>C (p.Phe2188Ser)
|
rs61750658
|
0.00001
|
NM_006017.3(PROM1):c.1984-1G>T
|
rs373680665
|
0.00001
|
NM_201548.5(CERKL):c.678-1G>A
|
rs1209393896
|
0.00001
|
NM_000322.5(PRPH2):c.113del (p.Gly38fs)
|
rs61755769
|
|
NM_000322.5(PRPH2):c.163del (p.Ser55fs)
|
rs1761917286
|
|
NM_000322.5(PRPH2):c.259_266del (p.Asp87fs)
|
rs1554270834
|
|
NM_000322.5(PRPH2):c.310_313del (p.Ile104fs)
|
rs1761913253
|
|
NM_000322.5(PRPH2):c.394del (p.Gln132fs)
|
rs769723975
|
|
NM_000322.5(PRPH2):c.422A>G (p.Tyr141Cys)
|
rs61755781
|
|
NM_000322.5(PRPH2):c.441del (p.Gly148fs)
|
rs61755784
|
|
NM_000322.5(PRPH2):c.458AGA[1] (p.Lys154del)
|
rs61755786
|
|
NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp)
|
rs61755792
|
|
NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln)
|
rs61755793
|
|
NM_000322.5(PRPH2):c.612C>A (p.Tyr204Ter)
|
rs1554269081
|
|
NM_000322.5(PRPH2):c.629C>G (p.Pro210Arg)
|
rs61755798
|
|
NM_000322.5(PRPH2):c.638G>C (p.Cys213Ser)
|
rs61755803
|
|
NM_000322.5(PRPH2):c.653C>T (p.Ser218Leu)
|
rs986748364
|
|
NM_000322.5(PRPH2):c.708C>G (p.Tyr236Ter)
|
rs61755813
|
|
NM_000322.5(PRPH2):c.715C>T (p.Gln239Ter)
|
rs61755814
|
|
NM_000350.2(ABCA4):c.571_580dup
|
rs1662216783
|
|
NM_000350.2(ABCA4):c.[1A>G;6089G>A]
|
|
|
NM_000350.2(ABCA4):c.[5512C>G;5882G>A]
|
|
|
NM_000350.2:c.(6816+1_6817-1)_(*1_?)del
|
|
|
NM_000350.3(ABCA4):c.1172del (p.Lys391fs)
|
rs1570407032
|
|
NM_000350.3(ABCA4):c.1454del (p.Gly485fs)
|
rs1661577361
|
|
NM_000350.3(ABCA4):c.2408del (p.Gly803fs)
|
rs1570386206
|
|
NM_000350.3(ABCA4):c.2453G>C (p.Gly818Ala)
|
|
|
NM_000350.3(ABCA4):c.2731_2732del (p.Glu911fs)
|
rs1660761326
|
|
NM_000350.3(ABCA4):c.2741_2742del (p.His914fs)
|
rs2101059717
|
|
NM_000350.3(ABCA4):c.2807del (p.Lys936fs)
|
rs2101057370
|
|
NM_000350.3(ABCA4):c.2908del (p.Thr970fs)
|
rs2101057076
|
|
NM_000350.3(ABCA4):c.3449_3451del (p.Cys1150del)
|
rs1570370826
|
|
NM_000350.3(ABCA4):c.3608-1G>A
|
|
|
NM_000350.3(ABCA4):c.3814-2A>T
|
rs1660350150
|
|
NM_000350.3(ABCA4):c.3898del (p.Arg1300fs)
|
|
|
NM_000350.3(ABCA4):c.4102C>T (p.Arg1368Cys)
|
rs1183074086
|
|
NM_000350.3(ABCA4):c.4243dup (p.Thr1415fs)
|
|
|
NM_000350.3(ABCA4):c.4254-1G>A
|
rs886044740
|
|
NM_000350.3(ABCA4):c.4598T>C (p.Phe1533Ser)
|
rs1557770154
|
|
NM_000350.3(ABCA4):c.4720G>T (p.Glu1574Ter)
|
rs1282472315
|
|
NM_000350.3(ABCA4):c.4848+1G>T
|
rs1659900228
|
|
NM_000350.3(ABCA4):c.4979C>T (p.Pro1660Leu)
|
rs886044746
|
|
NM_000350.3(ABCA4):c.5044_5058del (p.Val1682_Val1686del)
|
rs62646872
|
|
NM_000350.3(ABCA4):c.5059del (p.Ile1687fs)
|
rs1571256775
|
|
NM_000350.3(ABCA4):c.5169C>G (p.Tyr1723Ter)
|
rs1437993640
|
|
NM_000350.3(ABCA4):c.517dup (p.Leu173fs)
|
rs1662327418
|
|
NM_000350.3(ABCA4):c.5189G>A (p.Trp1730Ter)
|
rs886044747
|
|
NM_000350.3(ABCA4):c.5351T>G (p.Leu1784Arg)
|
rs746252741
|
|
NM_000350.3(ABCA4):c.5380G>C (p.Ala1794Pro)
|
rs1571252997
|
|
NM_000350.3(ABCA4):c.5460+1G>A
|
rs61753030
|
|
NM_000350.3(ABCA4):c.5907CCT[3] (p.Leu1971_Gly1972insLeu)
|
rs1659430629
|
|
NM_000350.3(ABCA4):c.5912T>G (p.Leu1971Arg)
|
rs61753034
|
|
NM_000350.3(ABCA4):c.6077del (p.Leu2026fs)
|
rs1571245809
|
|
NM_000350.3(ABCA4):c.6146del (p.Lys2049fs)
|
rs1659351261
|
|
NM_000350.3(ABCA4):c.6181_6184del (p.Thr2061fs)
|
rs1659200106
|
|
NM_000350.3(ABCA4):c.6308C>A (p.Pro2103His)
|
rs2100994049
|
|
NM_000350.3(ABCA4):c.6816+2T>A
|
rs112005636
|
|
NM_000350.3(ABCA4):c.768+1G>A
|
|
|
NM_000350.3(ABCA4):c.834del (p.Asp279fs)
|
rs779743222
|
|
NM_000350.3:c.1876_1999del
|
|
|
NM_000554.6(CRX):c.590del (p.Pro197fs)
|
rs1968169100
|
|
NM_001029883.3(PCARE):c.947del (p.Asn316fs)
|
rs779886453
|
|
NM_001844.5(COL2A1):c.1527+135G>A
|
rs1592218346
|
|
NM_003322.6(TULP1):c.1201C>T (p.Gln401Ter)
|
rs1761021773
|
|
NM_004183.4(BEST1):c.1566_1576dup (p.His526delinsProTer)
|
rs1389863115
|
|
NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys)
|
rs137853006
|
|
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs)
|
rs543698823
|
|
NM_006017.3(PROM1):c.1424T>A (p.Val475Asp)
|
rs2149234796
|
|
NM_006017.3(PROM1):c.1579-3T>G
|
rs1355865032
|
|
NM_006017.3(PROM1):c.2023C>T (p.Gln675Ter)
|
rs1324631413
|
|
NM_006017.3(PROM1):c.784+1G>A
|
rs745704627
|
|
NM_130837.3(OPA1):c.800_801del (p.Lys267fs)
|
rs794727804
|
|
NM_198506.5(LRIT3):c.277G>T (p.Val93Leu)
|
rs1479270315
|
|
NM_198506.5(LRIT3):c.59_61del (p.Leu20del)
|
|
|
NM_201253.3(CRB1):c.3172G>T (p.Glu1058Ter)
|
rs564754426
|
|