NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)
|
rs76157638
|
0.00445
|
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.5693G>A (p.Arg1898His)
|
rs1800552
|
0.00153
|
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr)
|
rs1762111
|
0.00132
|
NM_001142800.2(EYS):c.1459+5C>T
|
rs200387978
|
0.00061
|
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.1622T>C (p.Leu541Pro)
|
rs61751392
|
0.00017
|
NM_000350.3(ABCA4):c.5196+1137G>A
|
rs778234759
|
0.00013
|
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.2453G>A (p.Gly818Glu)
|
rs61750202
|
0.00006
|
NM_000350.3(ABCA4):c.1819G>A (p.Gly607Arg)
|
rs61749412
|
0.00004
|
NM_000350.3(ABCA4):c.6319C>T (p.Arg2107Cys)
|
rs2297669
|
0.00004
|
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp)
|
rs61751404
|
0.00003
|
NM_133497.4(KCNV2):c.357dup (p.Lys120fs)
|
rs1402837406
|
0.00003
|
NM_000350.3(ABCA4):c.885del (p.Leu296fs)
|
rs764759172
|
0.00002
|
NM_000350.3(ABCA4):c.214G>A (p.Gly72Arg)
|
rs61751412
|
0.00001
|
NM_000350.3(ABCA4):c.4069G>A (p.Ala1357Thr)
|
rs754899711
|
0.00001
|
NM_000350.3(ABCA4):c.4326C>A (p.Asn1442Lys)
|
rs762150575
|
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.6088C>T (p.Arg2030Ter)
|
rs61751383
|
0.00001
|
NM_000350.3(ABCA4):c.6118C>T (p.Arg2040Ter)
|
rs61753038
|
0.00001
|
NM_000350.2:c.(6816+1_6817-1)_(*1_?)del
|
|
|
NM_000350.3(ABCA4):c.1719G>A (p.Met573Ile)
|
rs886044728
|
|
NM_000350.3(ABCA4):c.2408del (p.Gly803fs)
|
rs1570386206
|
|
NM_000350.3(ABCA4):c.2680dup (p.Leu894fs)
|
rs1570380080
|
|
NM_000350.3(ABCA4):c.2895T>G (p.Asn965Lys)
|
rs1570377861
|
|
NM_000350.3(ABCA4):c.3380G>A (p.Gly1127Glu)
|
rs1570370929
|
|
NM_000350.3(ABCA4):c.3767_3768dup (p.Leu1257fs)
|
rs1570367144
|
|
NM_000350.3(ABCA4):c.4222del (p.Trp1408fs)
|
rs1571264574
|
|
NM_000350.3(ABCA4):c.4243A>C (p.Thr1415Pro)
|
rs1571264551
|
|
NM_000350.3(ABCA4):c.4539+2066C>G
|
rs1571261864
|
|
NM_000350.3(ABCA4):c.4679T>A (p.Ile1560Asn)
|
rs1571258567
|
|
NM_000350.3(ABCA4):c.4842C>G (p.Asn1614Lys)
|
rs1265079301
|
|
NM_000350.3(ABCA4):c.5584+6T>C
|
rs61750633
|
|
NM_000350.3(ABCA4):c.6098T>G (p.Leu2033Arg)
|
rs1553186896
|
|
NM_000350.3(ABCA4):c.6229C>T (p.Arg2077Trp)
|
rs61750645
|
|
NM_000350.3(ABCA4):c.6454G>T (p.Gly2152Cys)
|
rs1571241947
|
|
NM_000350.3(ABCA4):c.6478A>G (p.Lys2160Glu)
|
rs1571241930
|
|
NM_000554.6(CRX):c.381dup (p.Ser128fs)
|
rs1599991268
|
|
NM_000554.6(CRX):c.827G>A (p.Trp276Ter)
|
rs1599992622
|
|
NM_004183.4(BEST1):c.1030C>T (p.Gln344Ter)
|
rs1591303900
|
|
NM_004183.4(BEST1):c.95T>C (p.Leu32Pro)
|
rs1591266591
|
|
NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys)
|
rs137853006
|
|
NM_014014.5(SNRNP200):c.210-5A>G
|
rs745775178
|
|
NM_014053.4(FLVCR1):c.1557_1561del (p.Asn519fs)
|
rs748989557
|
|