NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg)
|
rs61750126
|
0.02895
|
NM_000350.3(ABCA4):c.6732G>A (p.Val2244=)
|
rs77293072
|
0.02574
|
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His)
|
rs62642564
|
0.00654
|
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.6148G>C (p.Val2050Leu)
|
rs41292677
|
0.00308
|
NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln)
|
rs62646862
|
0.00276
|
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)
|
rs1800553
|
0.00269
|
NM_000350.3(ABCA4):c.1654G>A (p.Val552Ile)
|
rs145525174
|
0.00246
|
NM_000350.3(ABCA4):c.4771G>A (p.Gly1591Arg)
|
rs113106943
|
0.00239
|
NM_000350.3(ABCA4):c.4297G>A (p.Val1433Ile)
|
rs56357060
|
0.00189
|
NM_000350.3(ABCA4):c.6255C>T (p.Leu2085=)
|
rs61748519
|
0.00185
|
NM_000350.3(ABCA4):c.2588-12C>G
|
rs61751396
|
0.00183
|
NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly)
|
rs61754024
|
0.00178
|
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.2690C>T (p.Thr897Ile)
|
rs61749440
|
0.00133
|
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr)
|
rs1762111
|
0.00132
|
NM_000350.3(ABCA4):c.1029T>C (p.Asn343=)
|
rs145483148
|
0.00120
|
NM_000350.3(ABCA4):c.317A>T (p.Tyr106Phe)
|
rs201150919
|
0.00100
|
NM_000350.3(ABCA4):c.1500G>A (p.Arg500=)
|
rs139050119
|
0.00097
|
NM_000350.3(ABCA4):c.981C>T (p.Pro327=)
|
rs61753057
|
0.00054
|
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln)
|
rs61750641
|
0.00048
|
NM_000350.3(ABCA4):c.2877C>T (p.Thr959=)
|
rs61754033
|
0.00041
|
NM_000350.3(ABCA4):c.1692A>G (p.Pro564=)
|
rs143263315
|
0.00037
|
NM_000350.3(ABCA4):c.5714+5G>A
|
rs61751407
|
0.00036
|
NM_000350.3(ABCA4):c.6316C>T (p.Arg2106Cys)
|
rs61750648
|
0.00034
|
NM_000350.3(ABCA4):c.1964T>G (p.Phe655Cys)
|
rs200692438
|
0.00033
|
NM_000350.3(ABCA4):c.5461-10T>C
|
rs1800728
|
0.00031
|
NM_000350.3(ABCA4):c.3758C>T (p.Thr1253Met)
|
rs61752424
|
0.00024
|
NM_000350.3(ABCA4):c.3386G>T (p.Arg1129Leu)
|
rs1801269
|
0.00022
|
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys)
|
rs61750120
|
0.00019
|
NM_000350.3(ABCA4):c.5606C>T (p.Pro1869Leu)
|
rs376925793
|
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.1614C>T (p.Ala538=)
|
rs201602424
|
0.00014
|
NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu)
|
rs61750145
|
0.00009
|
NM_000350.3(ABCA4):c.5714+4C>T
|
rs376586802
|
0.00009
|
NM_000350.3(ABCA4):c.5478C>T (p.Asn1826=)
|
rs762632312
|
0.00008
|
NM_000350.3(ABCA4):c.2894A>G (p.Asn965Ser)
|
rs201471607
|
0.00007
|
NM_000350.3(ABCA4):c.5881G>A (p.Gly1961Arg)
|
rs142253670
|
0.00007
|
NM_000350.3(ABCA4):c.3292C>T (p.Arg1098Cys)
|
rs756840095
|
0.00006
|
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr)
|
rs61751402
|
0.00006
|
NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn)
|
rs62642574
|
0.00006
|
NM_000350.3(ABCA4):c.4610C>T (p.Thr1537Met)
|
rs62642575
|
0.00006
|
NM_000350.3(ABCA4):c.768G>T (p.Val256=)
|
rs62645944
|
0.00006
|
NM_000350.3(ABCA4):c.1715G>A (p.Arg572Gln)
|
rs61748559
|
0.00005
|
NM_000350.3(ABCA4):c.4519G>A (p.Gly1507Arg)
|
rs568792949
|
0.00005
|
NM_000350.3(ABCA4):c.52C>T (p.Arg18Trp)
|
rs121909205
|
0.00005
|
NM_000350.3(ABCA4):c.6449G>A (p.Cys2150Tyr)
|
rs61751384
|
0.00005
|
NM_000350.3(ABCA4):c.1222C>T (p.Arg408Ter)
|
rs61748550
|
0.00004
|
NM_000350.3(ABCA4):c.161G>A (p.Cys54Tyr)
|
rs150774447
|
0.00004
|
NM_000350.3(ABCA4):c.1819G>A (p.Gly607Arg)
|
rs61749412
|
0.00004
|
NM_000350.3(ABCA4):c.2300T>A (p.Val767Asp)
|
rs61751395
|
0.00004
|
NM_000350.3(ABCA4):c.4539+2028C>T
|
rs869320785
|
0.00004
|
NM_000350.3(ABCA4):c.4773+3A>G
|
rs759672616
|
0.00004
|
NM_000350.3(ABCA4):c.6112C>T (p.Arg2038Trp)
|
rs61750643
|
0.00004
|
NM_000350.3(ABCA4):c.1609C>T (p.Arg537Cys)
|
rs61748556
|
0.00003
|
NM_000350.3(ABCA4):c.1937+1G>A
|
rs61752401
|
0.00003
|
NM_000350.3(ABCA4):c.4195G>A (p.Glu1399Lys)
|
rs62642573
|
0.00003
|
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.5087G>A (p.Ser1696Asn)
|
rs61750564
|
0.00003
|
NM_000350.3(ABCA4):c.179C>T (p.Ala60Val)
|
rs55732384
|
0.00002
|
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp)
|
rs61749409
|
0.00002
|
NM_000350.3(ABCA4):c.4140G>A (p.Pro1380=)
|
rs139109485
|
0.00002
|
NM_000350.3(ABCA4):c.4739T>C (p.Leu1580Ser)
|
rs777415466
|
0.00002
|
NM_000350.3(ABCA4):c.656G>C (p.Arg219Thr)
|
rs61748537
|
0.00002
|
NM_000350.3(ABCA4):c.6647C>T (p.Ala2216Val)
|
rs886044763
|
0.00002
|
NM_000350.3(ABCA4):c.1009T>C (p.Phe337Leu)
|
rs886044724
|
0.00001
|
NM_000350.3(ABCA4):c.1239+1G>C
|
rs765707028
|
0.00001
|
NM_000350.3(ABCA4):c.1293G>A (p.Trp431Ter)
|
rs886044725
|
0.00001
|
NM_000350.3(ABCA4):c.1584C>A (p.Tyr528Ter)
|
rs886044727
|
0.00001
|
NM_000350.3(ABCA4):c.1822T>A (p.Phe608Ile)
|
rs61752398
|
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.2160+1G>T
|
rs61749427
|
0.00001
|
NM_000350.3(ABCA4):c.2291G>A (p.Cys764Tyr)
|
rs61749428
|
0.00001
|
NM_000350.3(ABCA4):c.2564G>A (p.Trp855Ter)
|
rs61752406
|
0.00001
|
NM_000350.3(ABCA4):c.2609C>T (p.Pro870Leu)
|
rs746566873
|
0.00001
|
NM_000350.3(ABCA4):c.2919-10T>C
|
rs886044733
|
0.00001
|
NM_000350.3(ABCA4):c.3064G>A (p.Glu1022Lys)
|
rs61749459
|
0.00001
|
NM_000350.3(ABCA4):c.3482G>A (p.Arg1161His)
|
rs768278935
|
0.00001
|
NM_000350.3(ABCA4):c.3900A>G (p.Arg1300=)
|
rs886044739
|
0.00001
|
NM_000350.3(ABCA4):c.4222T>C (p.Trp1408Arg)
|
rs61750135
|
0.00001
|
NM_000350.3(ABCA4):c.4234C>T (p.Gln1412Ter)
|
rs61750137
|
0.00001
|
NM_000350.3(ABCA4):c.4253+5G>A
|
rs61750138
|
0.00001
|
NM_000350.3(ABCA4):c.4347G>T (p.Trp1449Cys)
|
rs886044741
|
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.5018+2T>C
|
rs61750562
|
0.00001
|
NM_000350.3(ABCA4):c.5137C>A (p.Gln1713Lys)
|
rs374343397
|
0.00001
|
NM_000350.3(ABCA4):c.5196+1G>A
|
rs61751377
|
0.00001
|
NM_000350.3(ABCA4):c.5312+1G>A
|
rs886044750
|
0.00001
|
NM_000350.3(ABCA4):c.5318C>T (p.Ala1773Val)
|
rs760549861
|
0.00001
|
NM_000350.3(ABCA4):c.5549T>C (p.Leu1850Pro)
|
rs377311148
|
0.00001
|
NM_000350.3(ABCA4):c.5973G>C (p.Val1991=)
|
rs886044757
|
0.00001
|
NM_000350.3(ABCA4):c.6230G>A (p.Arg2077Gln)
|
rs886044759
|
0.00001
|
NM_000350.3(ABCA4):c.6386+2C>G
|
rs61753043
|
0.00001
|
NM_000350.2(ABCA4):c.[1A>G;6089G>A]
|
|
|
NM_000350.2(ABCA4):c.[2588G>C;3289A>T]
|
|
|
NM_000350.2(ABCA4):c.[2588G>C;5153T>G]
|
|
|
NM_000350.2(ABCA4):c.[5381C>A;6148G>C]
|
|
|
NM_000350.3(ABCA4):c.1086T>A (p.Tyr362Ter)
|
rs61752390
|
|
NM_000350.3(ABCA4):c.122G>A (p.Trp41Ter)
|
rs61751410
|
|
NM_000350.3(ABCA4):c.1357-2A>G
|
rs886044726
|
|
NM_000350.3(ABCA4):c.160+2T>C
|
rs886044721
|
|
NM_000350.3(ABCA4):c.160T>G (p.Cys54Gly)
|
rs886044720
|
|
NM_000350.3(ABCA4):c.1719G>A (p.Met573Ile)
|
rs886044728
|
|
NM_000350.3(ABCA4):c.1789C>T (p.Pro597Ser)
|
rs61751393
|
|
NM_000350.3(ABCA4):c.1793T>G (p.Val598Gly)
|
rs886044729
|
|
NM_000350.3(ABCA4):c.180G>C (p.Ala60=)
|
rs756647171
|
|
NM_000350.3(ABCA4):c.1891G>A (p.Gly631Arg)
|
rs886044730
|
|
NM_000350.3(ABCA4):c.1918C>G (p.Pro640Ala)
|
rs766570903
|
|
NM_000350.3(ABCA4):c.194G>A (p.Gly65Glu)
|
rs62654395
|
|
NM_000350.3(ABCA4):c.203C>G (p.Pro68Arg)
|
rs62654397
|
|
NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter)
|
rs61749423
|
|
NM_000350.3(ABCA4):c.206G>A (p.Trp69Ter)
|
rs886044722
|
|
NM_000350.3(ABCA4):c.2692G>T (p.Glu898Ter)
|
rs61749441
|
|
NM_000350.3(ABCA4):c.2875A>G (p.Thr959Ala)
|
rs368846708
|
|
NM_000350.3(ABCA4):c.2940G>C (p.Leu980Phe)
|
rs886044734
|
|
NM_000350.3(ABCA4):c.296dup (p.Asn99fs)
|
rs62645948
|
|
NM_000350.3(ABCA4):c.3085C>T (p.Gln1029Ter)
|
rs61751397
|
|
NM_000350.3(ABCA4):c.3093del (p.Gly1032fs)
|
rs886044735
|
|
NM_000350.3(ABCA4):c.3261A>C (p.Glu1087Asp)
|
rs61752416
|
|
NM_000350.3(ABCA4):c.3272G>A (p.Gly1091Glu)
|
rs61752417
|
|
NM_000350.3(ABCA4):c.3323G>T (p.Arg1108Leu)
|
rs61750121
|
|
NM_000350.3(ABCA4):c.3377T>C (p.Leu1126Pro)
|
rs1047376
|
|
NM_000350.3(ABCA4):c.3529_3532dup (p.Ser1178fs)
|
rs886044736
|
|
NM_000350.3(ABCA4):c.3808G>T (p.Glu1270Ter)
|
rs61752425
|
|
NM_000350.3(ABCA4):c.3813G>A (p.Glu1271=)
|
rs886044737
|
|
NM_000350.3(ABCA4):c.3815T>C (p.Ile1272Thr)
|
rs886044738
|
|
NM_000350.3(ABCA4):c.3871C>T (p.Gln1291Ter)
|
rs746541266
|
|
NM_000350.3(ABCA4):c.4195G>T (p.Glu1399Ter)
|
rs62642573
|
|
NM_000350.3(ABCA4):c.4254-1G>C
|
rs886044740
|
|
NM_000350.3(ABCA4):c.4354G>T (p.Glu1452Ter)
|
rs886044742
|
|
NM_000350.3(ABCA4):c.4463G>A (p.Cys1488Tyr)
|
rs61750147
|
|
NM_000350.3(ABCA4):c.4540-2036C>A
|
rs886044743
|
|
NM_000350.3(ABCA4):c.45G>A (p.Trp15Ter)
|
rs62645957
|
|
NM_000350.3(ABCA4):c.4611G>A (p.Thr1537=)
|
rs138475920
|
|
NM_000350.3(ABCA4):c.4635C>T (p.Ser1545=)
|
rs886044744
|
|
NM_000350.3(ABCA4):c.4640del (p.Lys1547fs)
|
rs886044745
|
|
NM_000350.3(ABCA4):c.4979C>T (p.Pro1660Leu)
|
rs886044746
|
|
NM_000350.3(ABCA4):c.5065T>C (p.Ser1689Pro)
|
rs61753020
|
|
NM_000350.3(ABCA4):c.5114G>T (p.Arg1705Leu)
|
rs61753021
|
|
NM_000350.3(ABCA4):c.5189G>A (p.Trp1730Ter)
|
rs886044747
|
|
NM_000350.3(ABCA4):c.5196+1013A>G
|
rs886044748
|
|
NM_000350.3(ABCA4):c.5196+1056A>G
|
rs886044749
|
|
NM_000350.3(ABCA4):c.5196+2T>C
|
rs61751405
|
|
NM_000350.3(ABCA4):c.5288T>C (p.Leu1763Pro)
|
rs61753028
|
|
NM_000350.3(ABCA4):c.5363C>T (p.Pro1788Leu)
|
rs886044751
|
|
NM_000350.3(ABCA4):c.5512C>A (p.His1838Asn)
|
rs62642562
|
|
NM_000350.3(ABCA4):c.5512C>G (p.His1838Asp)
|
rs62642562
|
|
NM_000350.3(ABCA4):c.5513A>G (p.His1838Arg)
|
rs886044752
|
|
NM_000350.3(ABCA4):c.5558C>A (p.Ala1853Asp)
|
rs886044753
|
|
NM_000350.3(ABCA4):c.5656G>A (p.Gly1886Arg)
|
rs886044754
|
|
NM_000350.3(ABCA4):c.5828T>C (p.Leu1943Pro)
|
rs886044755
|
|
NM_000350.3(ABCA4):c.5909T>C (p.Leu1970Pro)
|
rs886044756
|
|
NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer)
|
rs61751389
|
|
NM_000350.3(ABCA4):c.5936C>T (p.Thr1979Ile)
|
rs61753037
|
|
NM_000350.3(ABCA4):c.5942C>G (p.Thr1981Arg)
|
rs752147871
|
|
NM_000350.3(ABCA4):c.6077T>C (p.Leu2026Pro)
|
rs886044758
|
|
NM_000350.3(ABCA4):c.6229C>T (p.Arg2077Trp)
|
rs61750645
|
|
NM_000350.3(ABCA4):c.6283-3_6283-2delinsAG
|
rs886044760
|
|
NM_000350.3(ABCA4):c.6326T>C (p.Leu2109Pro)
|
rs886044761
|
|
NM_000350.3(ABCA4):c.6515A>G (p.Lys2172Arg)
|
rs886044762
|
|
NM_000350.3(ABCA4):c.6609C>A (p.Tyr2203Ter)
|
rs61753045
|
|
NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter)
|
rs61753046
|
|
NM_000350.3(ABCA4):c.67-1G>C
|
rs778908435
|
|
NM_000350.3(ABCA4):c.67-2A>G
|
rs398123339
|
|
NM_000350.3(ABCA4):c.6713A>G (p.Gln2238Arg)
|
rs886044764
|
|
NM_000350.3(ABCA4):c.86T>G (p.Leu29Arg)
|
rs886044719
|
|
NM_000350.3(ABCA4):c.956T>G (p.Leu319Arg)
|
rs886044723
|
|