NM_000350.3(ABCA4):c.5585-70C>T
|
rs537831
|
0.65778
|
NM_000350.3(ABCA4):c.302+26A>G
|
rs2297634
|
0.48752
|
NM_000350.3(ABCA4):c.1240-14C>T
|
rs4147830
|
0.47169
|
NM_000350.3(ABCA4):c.6285T>C (p.Asp2095=)
|
rs1801555
|
0.27862
|
NM_000350.3(ABCA4):c.1268A>G (p.His423Arg)
|
rs3112831
|
0.25928
|
NM_000350.3(ABCA4):c.769-32T>C
|
rs526016
|
0.24162
|
NM_000350.3(ABCA4):c.5682G>C (p.Leu1894=)
|
rs1801574
|
0.23813
|
NM_000350.3(ABCA4):c.1761-54G>A
|
rs4147833
|
0.23727
|
NM_000350.3(ABCA4):c.5814A>G (p.Leu1938=)
|
rs4147857
|
0.20473
|
NM_000350.3(ABCA4):c.5715-25A>C
|
rs4147856
|
0.20432
|
NM_000350.3(ABCA4):c.5836-11G>A
|
rs1800739
|
0.20309
|
NM_000350.3(ABCA4):c.6764G>T (p.Ser2255Ile)
|
rs6666652
|
0.17582
|
NM_000350.3(ABCA4):c.6730-3T>C
|
rs1800717
|
0.15096
|
NM_000350.3(ABCA4):c.6249C>T (p.Ile2083=)
|
rs1801359
|
0.13311
|
NM_000350.3(ABCA4):c.6282+7G>A
|
rs17110761
|
0.13306
|
NM_000350.3(ABCA4):c.1269C>T (p.His423=)
|
rs4147831
|
0.09402
|
NM_000350.3(ABCA4):c.635G>A (p.Arg212His)
|
rs6657239
|
0.04939
|
NM_000350.3(ABCA4):c.2654-48G>C
|
rs12069723
|
0.04589
|
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile)
|
rs1801466
|
0.04126
|
NM_000350.3(ABCA4):c.4254-38G>A
|
rs17110898
|
0.03389
|
NM_000350.3(ABCA4):c.5843C>T (p.Pro1948Leu)
|
rs56142141
|
0.03191
|
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln)
|
rs1801581
|
0.02951
|
NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg)
|
rs61750126
|
0.02895
|
NM_000350.3(ABCA4):c.3329-34A>G
|
rs11810336
|
0.02890
|
NM_000350.3(ABCA4):c.6732G>A (p.Val2244=)
|
rs77293072
|
0.02574
|
NM_000350.3(ABCA4):c.3899G>A (p.Arg1300Gln)
|
rs61750129
|
0.02065
|
NM_000350.3(ABCA4):c.2964C>T (p.Leu988=)
|
rs61754034
|
0.01415
|
NM_000350.3(ABCA4):c.141= (p.Pro47=)
|
rs4847281
|
0.01254
|
NM_000350.3(ABCA4):c.1761-50G>A
|
rs61754022
|
0.01220
|
NM_000350.3(ABCA4):c.6529G>A (p.Asp2177Asn)
|
rs1800555
|
0.01028
|
NM_000350.3(ABCA4):c.3051-14T>A
|
rs17110922
|
0.01008
|
NM_000350.3(ABCA4):c.6729+21C>T
|
rs1800699
|
0.00981
|
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His)
|
rs62642564
|
0.00654
|
NM_000350.3(ABCA4):c.302+20C>T
|
rs61753050
|
0.00508
|
NM_000350.3(ABCA4):c.1761-37G>A
|
rs61754021
|
0.00491
|
NM_000350.3(ABCA4):c.1927G>A (p.Val643Met)
|
rs61749417
|
0.00491
|
NM_000350.3(ABCA4):c.3523-28T>C
|
rs55896821
|
0.00489
|
NM_000350.3(ABCA4):c.4253+43G>A
|
rs61754045
|
0.00486
|
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)
|
rs76157638
|
0.00445
|
NM_000350.3(ABCA4):c.4668-38C>T
|
rs61754053
|
0.00423
|
NM_000350.3(ABCA4):c.2546T>C (p.Val849Ala)
|
rs61749435
|
0.00385
|
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe)
|
rs28938473
|
0.00362
|
NM_000350.3(ABCA4):c.4254-47T>C
|
rs56142328
|
0.00359
|
NM_000350.3(ABCA4):c.1878G>A (p.Ala626=)
|
rs61754023
|
0.00324
|
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.1653G>A (p.Val551=)
|
rs61753963
|
0.00243
|
NM_000350.3(ABCA4):c.466A>G (p.Ile156Val)
|
rs62646863
|
0.00222
|
NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg)
|
rs61749455
|
0.00194
|
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.1610G>A (p.Arg537His)
|
rs61752395
|
0.00176
|
NM_000350.3(ABCA4):c.2701A>G (p.Thr901Ala)
|
rs61754030
|
0.00174
|
NM_000350.3(ABCA4):c.4283C>T (p.Thr1428Met)
|
rs1800549
|
0.00160
|
NM_000350.3(ABCA4):c.574G>A (p.Ala192Thr)
|
rs61748535
|
0.00158
|
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His)
|
rs1800552
|
0.00153
|
NM_000350.3(ABCA4):c.2791G>A (p.Val931Met)
|
rs58331765
|
0.00136
|
NM_000350.3(ABCA4):c.2690C>T (p.Thr897Ile)
|
rs61749440
|
0.00133
|
NM_000350.3(ABCA4):c.3191-20C>T
|
rs61754036
|
0.00130
|
NM_000350.3(ABCA4):c.1411G>A (p.Glu471Lys)
|
rs1800548
|
0.00090
|
NM_000350.3(ABCA4):c.2966T>C (p.Val989Ala)
|
rs61749454
|
0.00089
|
NM_000350.3(ABCA4):c.5077G>A (p.Val1693Ile)
|
rs61750563
|
0.00088
|
NM_000350.3(ABCA4):c.5056G>A (p.Val1686Met)
|
rs61753019
|
0.00076
|
NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys)
|
rs61748549
|
0.00066
|
NM_000350.3(ABCA4):c.4352+13G>A
|
rs61754048
|
0.00059
|
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.5196+20G>A
|
rs55715124
|
0.00045
|
NM_000350.3(ABCA4):c.2877C>T (p.Thr959=)
|
rs61754033
|
0.00041
|
NM_000350.3(ABCA4):c.926C>G (p.Pro309Arg)
|
rs61748545
|
0.00039
|
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.514G>A (p.Gly172Ser)
|
rs61748532
|
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.3386G>T (p.Arg1129Leu)
|
rs1801269
|
0.00022
|
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.2127G>A (p.Ser709=)
|
rs61754025
|
0.00016
|
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.2472C>T (p.Ile824=)
|
rs61749434
|
0.00007
|
NM_000350.3(ABCA4):c.5461-52del
|
rs281865392
|
0.00007
|
NM_000350.3(ABCA4):c.1805G>A (p.Arg602Gln)
|
rs61749410
|
0.00006
|
NM_000350.3(ABCA4):c.2453G>A (p.Gly818Glu)
|
rs61750202
|
0.00006
|
NM_000350.3(ABCA4):c.302+1G>A
|
rs61751413
|
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.5019-32G>A
|
rs113014755
|
0.00006
|
NM_000350.3(ABCA4):c.5312+45G>T
|
rs61754059
|
0.00006
|
NM_000350.3(ABCA4):c.71G>A (p.Arg24His)
|
rs62645958
|
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.2383-10C>G
|
rs61754026
|
0.00005
|
NM_000350.3(ABCA4):c.2703A>G (p.Thr901=)
|
rs61749442
|
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.3940C>A (p.Pro1314Thr)
|
rs61754041
|
0.00004
|
NM_000350.3(ABCA4):c.4169T>C (p.Leu1390Pro)
|
rs61752430
|
0.00004
|
NM_000350.3(ABCA4):c.5242G>A (p.Gly1748Arg)
|
rs61753025
|
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.2147C>T (p.Thr716Met)
|
rs61749426
|
0.00003
|
NM_000350.3(ABCA4):c.2692G>A (p.Glu898Lys)
|
rs61749441
|
0.00003
|
NM_000350.3(ABCA4):c.3323G>A (p.Arg1108His)
|
rs61750121
|
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.5087G>A (p.Ser1696Asn)
|
rs61750564
|
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_000350.3(ABCA4):c.5761G>A (p.Val1921Met)
|
rs61753032
|
0.00003
|
NM_000350.3(ABCA4):c.5819T>C (p.Leu1940Pro)
|
rs61753033
|
0.00003
|
NM_000350.3(ABCA4):c.5868C>T (p.Asp1956=)
|
rs62642567
|
0.00003
|
NM_000350.3(ABCA4):c.6721C>G (p.Leu2241Val)
|
rs61748521
|
0.00003
|
NM_000350.3(ABCA4):c.1007C>G (p.Ser336Cys)
|
rs61748547
|
0.00002
|
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.2827C>T (p.Arg943Trp)
|
rs61749446
|
0.00002
|
NM_000350.3(ABCA4):c.3050+5G>A
|
rs61751262
|
0.00002
|
NM_000350.3(ABCA4):c.3291A>G (p.Arg1097=)
|
rs61750118
|
0.00002
|
NM_000350.3(ABCA4):c.3364G>A (p.Glu1122Lys)
|
rs61751399
|
0.00002
|
NM_000350.3(ABCA4):c.3523-12C>T
|
rs61754037
|
0.00002
|
NM_000350.3(ABCA4):c.3898C>T (p.Arg1300Ter)
|
rs61752427
|
0.00002
|
NM_000350.3(ABCA4):c.4538A>G (p.Gln1513Arg)
|
rs281865402
|
0.00002
|
NM_000350.3(ABCA4):c.656G>C (p.Arg219Thr)
|
rs61748537
|
0.00002
|
NM_000350.3(ABCA4):c.70C>T (p.Arg24Cys)
|
rs62645942
|
0.00002
|
NM_000350.3(ABCA4):c.1015T>G (p.Trp339Gly)
|
rs61751420
|
0.00001
|
NM_000350.3(ABCA4):c.1037A>C (p.Lys346Thr)
|
rs61752389
|
0.00001
|
NM_000350.3(ABCA4):c.1335C>G (p.Ser445Arg)
|
rs61748552
|
0.00001
|
NM_000350.3(ABCA4):c.1569T>G (p.Asp523Glu)
|
rs62646868
|
0.00001
|
NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg)
|
rs61748558
|
0.00001
|
NM_000350.3(ABCA4):c.1903C>T (p.Gln635Ter)
|
rs61749414
|
0.00001
|
NM_000350.3(ABCA4):c.1917C>T (p.Tyr639=)
|
rs61749415
|
0.00001
|
NM_000350.3(ABCA4):c.1938-1G>A
|
rs61751263
|
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.203C>T (p.Pro68Leu)
|
rs62654397
|
0.00001
|
NM_000350.3(ABCA4):c.214G>A (p.Gly72Arg)
|
rs61751412
|
0.00001
|
NM_000350.3(ABCA4):c.223T>G (p.Cys75Gly)
|
rs61748526
|
0.00001
|
NM_000350.3(ABCA4):c.2291G>A (p.Cys764Tyr)
|
rs61749428
|
0.00001
|
NM_000350.3(ABCA4):c.2461T>A (p.Trp821Arg)
|
rs61749433
|
0.00001
|
NM_000350.3(ABCA4):c.2560G>A (p.Ala854Thr)
|
rs61749437
|
0.00001
|
NM_000350.3(ABCA4):c.2564G>A (p.Trp855Ter)
|
rs61752406
|
0.00001
|
NM_000350.3(ABCA4):c.2617T>C (p.Phe873Leu)
|
rs62642570
|
0.00001
|
NM_000350.3(ABCA4):c.2870A>G (p.Gln957Arg)
|
rs61749448
|
0.00001
|
NM_000350.3(ABCA4):c.2920T>C (p.Ser974Pro)
|
rs281865400
|
0.00001
|
NM_000350.3(ABCA4):c.298T>C (p.Ser100Pro)
|
rs61748530
|
0.00001
|
NM_000350.3(ABCA4):c.2992C>T (p.Leu998=)
|
rs62642566
|
0.00001
|
NM_000350.3(ABCA4):c.3041T>G (p.Leu1014Arg)
|
rs61749456
|
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.3149G>A (p.Gly1050Asp)
|
rs61750062
|
0.00001
|
NM_000350.3(ABCA4):c.3163C>T (p.Arg1055Trp)
|
rs61752412
|
0.00001
|
NM_000350.3(ABCA4):c.3212C>T (p.Ser1071Leu)
|
rs61750065
|
0.00001
|
NM_000350.3(ABCA4):c.3259G>A (p.Glu1087Lys)
|
rs61751398
|
0.00001
|
NM_000350.3(ABCA4):c.32T>C (p.Leu11Pro)
|
rs62645946
|
0.00001
|
NM_000350.3(ABCA4):c.3335C>A (p.Thr1112Asn)
|
rs61750122
|
0.00001
|
NM_000350.3(ABCA4):c.3874C>T (p.Gln1292Ter)
|
rs61752426
|
0.00001
|
NM_000350.3(ABCA4):c.3994C>T (p.Gln1332Ter)
|
rs61752428
|
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+4C>T
|
rs61754044
|
0.00001
|
NM_000350.3(ABCA4):c.428C>T (p.Pro143Leu)
|
rs62646860
|
0.00001
|
NM_000350.3(ABCA4):c.4436G>A (p.Trp1479Ter)
|
rs61752434
|
0.00001
|
NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg)
|
rs61750146
|
0.00001
|
NM_000350.3(ABCA4):c.4463G>T (p.Cys1488Phe)
|
rs61750147
|
0.00001
|
NM_000350.3(ABCA4):c.4506C>T (p.Cys1502=)
|
rs61750149
|
0.00001
|
NM_000350.3(ABCA4):c.4539+40C>T
|
rs61754050
|
0.00001
|
NM_000350.3(ABCA4):c.454C>T (p.Arg152Ter)
|
rs62646861
|
0.00001
|
NM_000350.3(ABCA4):c.4667+2T>C
|
rs61752436
|
0.00001
|
NM_000350.3(ABCA4):c.5186T>C (p.Leu1729Pro)
|
rs61750567
|
0.00001
|
NM_000350.3(ABCA4):c.5196+1G>A
|
rs61751377
|
0.00001
|
NM_000350.3(ABCA4):c.5206T>C (p.Ser1736Pro)
|
rs61750568
|
0.00001
|
NM_000350.3(ABCA4):c.5316G>A (p.Trp1772Ter)
|
rs61750571
|
0.00001
|
NM_000350.3(ABCA4):c.5337C>G (p.Tyr1779Ter)
|
rs61750573
|
0.00001
|
NM_000350.3(ABCA4):c.5537T>C (p.Ile1846Thr)
|
rs61750575
|
0.00001
|
NM_000350.3(ABCA4):c.5657G>A (p.Gly1886Glu)
|
rs62642579
|
0.00001
|
NM_000350.3(ABCA4):c.5929G>A (p.Gly1977Ser)
|
rs61750639
|
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_000350.3(ABCA4):c.6286G>A (p.Glu2096Lys)
|
rs61750646
|
0.00001
|
NM_000350.3(ABCA4):c.6342G>A (p.Val2114=)
|
rs61748520
|
0.00001
|
NM_000350.3(ABCA4):c.6383A>G (p.His2128Arg)
|
rs61750651
|
0.00001
|
NM_000350.3(ABCA4):c.6386+2C>G
|
rs61753043
|
0.00001
|
NM_000350.3(ABCA4):c.6391G>A (p.Glu2131Lys)
|
rs61750652
|
0.00001
|
NM_000350.3(ABCA4):c.6445C>T (p.Arg2149Ter)
|
rs61750654
|
0.00001
|
NM_000350.3(ABCA4):c.6448T>C (p.Cys2150Arg)
|
rs61750656
|
0.00001
|
NM_000350.3(ABCA4):c.6563T>C (p.Phe2188Ser)
|
rs61750658
|
0.00001
|
NM_000350.3(ABCA4):c.658C>T (p.Arg220Cys)
|
rs61748538
|
0.00001
|
NM_000350.3(ABCA4):c.6686T>C (p.Leu2229Pro)
|
rs61750659
|
0.00001
|
NM_000350.3(ABCA4):c.740A>G (p.Asn247Ser)
|
rs62645950
|
0.00001
|
NM_000350.3(ABCA4):c.873G>A (p.Pro291=)
|
rs61753054
|
0.00001
|
NM_000350.3(ABCA4):c.928G>C (p.Glu310Gln)
|
rs61753055
|
0.00001
|
NM_000350.3(ABCA4):c.933C>T (p.Thr311=)
|
rs61753056
|
0.00001
|
NM_000350.3(ABCA4):c.997C>T (p.Arg333Trp)
|
rs61748546
|
0.00001
|
NM_000350.2(ABCA4):c.3210_3211insGT (p.Ser1071Valfs)
|
rs61750064
|
|
NM_000350.3(ABCA4):c.1018T>G (p.Tyr340Asp)
|
rs61748548
|
|
NM_000350.3(ABCA4):c.1025_1038del (p.Asp342fs)
|
rs63749083
|
|
NM_000350.3(ABCA4):c.1036A>T (p.Lys346Ter)
|
rs61751422
|
|
NM_000350.3(ABCA4):c.1066A>T (p.Lys356Ter)
|
rs61751391
|
|
NM_000350.3(ABCA4):c.1086T>G (p.Tyr362Ter)
|
rs61752390
|
|
NM_000350.3(ABCA4):c.108del (p.Leu37fs)
|
rs62642569
|
|
NM_000350.3(ABCA4):c.1100-14T>C
|
rs61753059
|
|
NM_000350.3(ABCA4):c.1220C>T (p.Ala407Val)
|
rs61751264
|
|
NM_000350.3(ABCA4):c.122G>A (p.Trp41Ter)
|
rs61751410
|
|
NM_000350.3(ABCA4):c.1248A>C (p.Ser416=)
|
rs61753960
|
|
NM_000350.3(ABCA4):c.1268A>C (p.His423Pro)
|
rs3112831
|
|
NM_000350.3(ABCA4):c.1272T>C (p.Val424=)
|
rs61748551
|
|
NM_000350.3(ABCA4):c.1317G>A (p.Trp439Ter)
|
rs61752391
|
|
NM_000350.3(ABCA4):c.1325T>C (p.Phe442Ser)
|
rs61752392
|
|
NM_000350.3(ABCA4):c.1341del (p.Gln447_Met448insTer)
|
rs61748553
|
|
NM_000350.3(ABCA4):c.1344del (p.Met448fs)
|
rs61748554
|
|
NM_000350.3(ABCA4):c.1356+10del
|
rs281865386
|
|
NM_000350.3(ABCA4):c.1356+5_1356+6insC
|
rs1553193877
|
|
NM_000350.3(ABCA4):c.1356+6G>C
|
rs281865387
|
|
NM_000350.3(ABCA4):c.1390_1391del (p.Leu464fs)
|
rs61748555
|
|
NM_000350.3(ABCA4):c.1506_1514del (p.Phe503_Ile505del)
|
rs62645953
|
|
NM_000350.3(ABCA4):c.1513_1517del (p.Asn504_Ile505insTer)
|
rs281865398
|
|
NM_000350.3(ABCA4):c.1528del (p.Leu510fs)
|
rs62646867
|
|
NM_000350.3(ABCA4):c.1554+1G>A
|
rs61752393
|
|
NM_000350.3(ABCA4):c.1555-1G>A
|
rs61752394
|
|
NM_000350.3(ABCA4):c.1575T>G (p.Phe525Leu)
|
rs62646869
|
|
NM_000350.3(ABCA4):c.160+1G>A
|
rs61748523
|
|
NM_000350.3(ABCA4):c.161-45G>T
|
rs61753048
|
|
NM_000350.3(ABCA4):c.161G>T (p.Cys54Phe)
|
rs150774447
|
|
NM_000350.3(ABCA4):c.1623A>G (p.Leu541=)
|
rs61753962
|
|
NM_000350.3(ABCA4):c.1645G>C (p.Ala549Pro)
|
rs61748557
|
|
NM_000350.3(ABCA4):c.1659C>G (p.Phe553Leu)
|
rs61752396
|
|
NM_000350.3(ABCA4):c.1715G>C (p.Arg572Pro)
|
rs61748559
|
|
NM_000350.3(ABCA4):c.174C>G (p.Asn58Lys)
|
rs61748524
|
|
NM_000350.3(ABCA4):c.1760+22G>T
|
rs61754020
|
|
NM_000350.3(ABCA4):c.1760+2T>G
|
rs61751385
|
|
NM_000350.3(ABCA4):c.1789C>T (p.Pro597Ser)
|
rs61751393
|
|
NM_000350.3(ABCA4):c.178G>A (p.Ala60Thr)
|
rs61751411
|
|
NM_000350.3(ABCA4):c.1798G>T (p.Asp600Tyr)
|
rs61752397
|
|
NM_000350.3(ABCA4):c.1811T>G (p.Ile604Ser)
|
rs61749411
|
|
NM_000350.3(ABCA4):c.1819G>T (p.Gly607Trp)
|
rs61749412
|
|
NM_000350.3(ABCA4):c.1822T>C (p.Phe608Leu)
|
rs61752398
|
|
NM_000350.3(ABCA4):c.1823T>A (p.Phe608Tyr)
|
rs61752399
|
|
NM_000350.3(ABCA4):c.1848del (p.Glu616fs)
|
rs61751386
|
|
NM_000350.3(ABCA4):c.1853G>A (p.Gly618Glu)
|
rs61751394
|
|
NM_000350.3(ABCA4):c.1894del (p.Ile632fs)
|
rs61749413
|
|
NM_000350.3(ABCA4):c.1903C>A (p.Gln635Lys)
|
rs61749414
|
|
NM_000350.3(ABCA4):c.1908G>T (p.Gln636His)
|
rs61752400
|
|
NM_000350.3(ABCA4):c.1917C>A (p.Tyr639Ter)
|
rs61749415
|
|
NM_000350.3(ABCA4):c.1922G>C (p.Cys641Ser)
|
rs61749416
|
|
NM_000350.3(ABCA4):c.1933G>A (p.Asp645Asn)
|
rs61749418
|
|
NM_000350.3(ABCA4):c.1937+2T>C
|
rs61749419
|
|
NM_000350.3(ABCA4):c.194G>A (p.Gly65Glu)
|
rs62654395
|
|
NM_000350.3(ABCA4):c.1989G>A (p.Trp663Ter)
|
rs61749421
|
|
NM_000350.3(ABCA4):c.2005_2006del (p.Met669fs)
|
rs61749422
|
|
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.2057T>C (p.Leu686Ser)
|
rs61752402
|
|
NM_000350.3(ABCA4):c.2090G>A (p.Trp697Ter)
|
rs61749424
|
|
NM_000350.3(ABCA4):c.2099G>A (p.Trp700Ter)
|
rs61749425
|
|
NM_000350.3(ABCA4):c.2160+1G>C
|
rs61749427
|
|
NM_000350.3(ABCA4):c.2292del (p.Ala763_Cys764insTer)
|
rs61752403
|
|
NM_000350.3(ABCA4):c.2294G>A (p.Ser765Asn)
|
rs61749429
|
|
NM_000350.3(ABCA4):c.2295T>G (p.Ser765Arg)
|
rs61752404
|
|
NM_000350.3(ABCA4):c.230T>A (p.Val77Glu)
|
rs61748527
|
|
NM_000350.3(ABCA4):c.2337C>A (p.Cys779Ter)
|
rs61749430
|
|
NM_000350.3(ABCA4):c.234C>T (p.Asn78=)
|
rs61753049
|
|
NM_000350.3(ABCA4):c.2385_2400del (p.Ser795fs)
|
rs281865399
|
|
NM_000350.3(ABCA4):c.2390T>C (p.Leu797Pro)
|
rs61749432
|
|
NM_000350.3(ABCA4):c.2409_2410del (p.Phe804fs)
|
rs61752405
|
|
NM_000350.3(ABCA4):c.247_250del (p.Gln83fs)
|
rs61748528
|
|
NM_000350.3(ABCA4):c.249_250insCAAA (p.Ser84fs)
|
rs61751390
|
|
NM_000350.3(ABCA4):c.2536G>C (p.Asp846His)
|
rs61754027
|
|
NM_000350.3(ABCA4):c.2552G>A (p.Gly851Asp)
|
rs61749436
|
|
NM_000350.3(ABCA4):c.2565G>A (p.Trp855Ter)
|
rs61749438
|
|
NM_000350.3(ABCA4):c.2571del (p.Asp858fs)
|
rs61752407
|
|
NM_000350.3(ABCA4):c.2585C>T (p.Pro862Leu)
|
rs61751382
|
|
NM_000350.3(ABCA4):c.2587+1G>A
|
rs61749439
|
|
NM_000350.3(ABCA4):c.2616_2617del (p.Phe873fs)
|
rs62642560
|
|
NM_000350.3(ABCA4):c.2653+60G>C
|
rs61754028
|
|
NM_000350.3(ABCA4):c.2654-21A>T
|
rs61754029
|
|
NM_000350.3(ABCA4):c.2703A>T (p.Thr901=)
|
rs61749442
|
|
NM_000350.3(ABCA4):c.2744-38del
|
rs281865389
|
|
NM_000350.3(ABCA4):c.2804T>C (p.Val935Ala)
|
rs61749444
|
|
NM_000350.3(ABCA4):c.2820C>G (p.Pro940=)
|
rs61749445
|
|
NM_000350.3(ABCA4):c.2827C>G (p.Arg943Gly)
|
rs61749446
|
|
NM_000350.3(ABCA4):c.2827del (p.Arg943fs)
|
rs281865513
|
|
NM_000350.3(ABCA4):c.2860T>G (p.Tyr954Asp)
|
rs61749447
|
|
NM_000350.3(ABCA4):c.286A>C (p.Asn96His)
|
rs61748529
|
|
NM_000350.3(ABCA4):c.286A>G (p.Asn96Asp)
|
rs61748529
|
|
NM_000350.3(ABCA4):c.2876C>T (p.Thr959Ile)
|
rs61752409
|
|
NM_000350.3(ABCA4):c.2884del (p.Leu962fs)
|
rs61750203
|
|
NM_000350.3(ABCA4):c.2888del (p.Gly963fs)
|
rs61752410
|
|
NM_000350.3(ABCA4):c.2893A>G (p.Asn965Asp)
|
rs61749449
|
|
NM_000350.3(ABCA4):c.2912C>A (p.Thr971Asn)
|
rs61749450
|
|
NM_000350.3(ABCA4):c.2915C>A (p.Thr972Asn)
|
rs61749451
|
|
NM_000350.3(ABCA4):c.2932G>T (p.Gly978Cys)
|
rs61749452
|
|
NM_000350.3(ABCA4):c.2933G>A (p.Gly978Asp)
|
rs61749453
|
|
NM_000350.3(ABCA4):c.2948C>T (p.Thr983Ile)
|
rs61752411
|
|
NM_000350.3(ABCA4):c.296dup (p.Asn99fs)
|
rs62645948
|
|
NM_000350.3(ABCA4):c.2971G>T (p.Gly991Ter)
|
rs61749455
|
|
NM_000350.3(ABCA4):c.2977_2984del (p.Asp993fs)
|
rs281865401
|
|
NM_000350.3(ABCA4):c.303-71del
|
rs4147877
|
|
NM_000350.3(ABCA4):c.3055A>G (p.Thr1019Ala)
|
rs61749457
|
|
NM_000350.3(ABCA4):c.3057G>T (p.Thr1019=)
|
rs61749458
|
|
NM_000350.3(ABCA4):c.3085C>T (p.Gln1029Ter)
|
rs61751397
|
|
NM_000350.3(ABCA4):c.3091A>G (p.Lys1031Glu)
|
rs61750060
|
|
NM_000350.3(ABCA4):c.3187T>C (p.Ser1063Pro)
|
rs61752413
|
|
NM_000350.3(ABCA4):c.3190+1G>T
|
rs61752414
|
|
NM_000350.3(ABCA4):c.3190+83A>T
|
rs61754035
|
|
NM_000350.3(ABCA4):c.3191-2A>G
|
rs61752415
|
|
NM_000350.3(ABCA4):c.3205_3206dup (p.Leu1070fs)
|
rs61750063
|
|
NM_000350.3(ABCA4):c.3216T>C (p.Val1072=)
|
rs61750066
|
|
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.3278A>G (p.Asp1093Gly)
|
rs61752418
|
|
NM_000350.3(ABCA4):c.327dup (p.Gln110fs)
|
rs61748531
|
|
NM_000350.3(ABCA4):c.3295T>C (p.Ser1099Pro)
|
rs61750119
|
|
NM_000350.3(ABCA4):c.3303G>A (p.Trp1101Ter)
|
rs61752419
|
|
NM_000350.3(ABCA4):c.3323G>T (p.Arg1108Leu)
|
rs61750121
|
|
NM_000350.3(ABCA4):c.3366G>C (p.Glu1122Asp)
|
rs61750123
|
|
NM_000350.3(ABCA4):c.3393del (p.Ile1132fs)
|
rs61750124
|
|
NM_000350.3(ABCA4):c.3439del (p.Phe1146_Leu1147insTer)
|
rs61752420
|
|
NM_000350.3(ABCA4):c.3527_3528insTGCA (p.Cys1177fs)
|
rs62645954
|
|
NM_000350.3(ABCA4):c.3531C>A (p.Cys1177Ter)
|
rs61750125
|
|
NM_000350.3(ABCA4):c.3607+1G>A
|
rs61752421
|
|
NM_000350.3(ABCA4):c.3607+32G>A
|
rs281865390
|
|
NM_000350.3(ABCA4):c.38_46del (p.Lys13_Trp15del)
|
rs62645956
|
|
NM_000350.3(ABCA4):c.4036_4037dup (p.Gly1347fs)
|
rs61751401
|
|
NM_000350.3(ABCA4):c.4073T>C (p.Leu1358Pro)
|
rs61752429
|
|
NM_000350.3(ABCA4):c.4129-35A>T
|
rs61754042
|
|
NM_000350.3(ABCA4):c.4129-71A>T
|
rs61754043
|
|
NM_000350.3(ABCA4):c.4163T>C (p.Leu1388Pro)
|
rs61750131
|
|
NM_000350.3(ABCA4):c.4200C>T (p.Tyr1400=)
|
rs61750132
|
|
NM_000350.3(ABCA4):c.4203C>A (p.Pro1401=)
|
rs1801666
|
|
NM_000350.3(ABCA4):c.4216C>T (p.His1406Tyr)
|
rs61750133
|
|
NM_000350.3(ABCA4):c.4223G>T (p.Trp1408Leu)
|
rs61750134
|
|
NM_000350.3(ABCA4):c.4228_4231dup (p.Gly1411fs)
|
rs61750136
|
|
NM_000350.3(ABCA4):c.4253+1G>T
|
rs61750139
|
|
NM_000350.3(ABCA4):c.4253+5G>T
|
rs61750138
|
|
NM_000350.3(ABCA4):c.4254-2A>G
|
rs61752431
|
|
NM_000350.3(ABCA4):c.4286T>C (p.Val1429Ala)
|
rs61752432
|
|
NM_000350.3(ABCA4):c.4316G>A (p.Gly1439Asp)
|
rs61750140
|
|
NM_000350.3(ABCA4):c.4318T>G (p.Phe1440Val)
|
rs61752433
|
|
NM_000350.3(ABCA4):c.4319T>C (p.Phe1440Ser)
|
rs61750141
|
|
NM_000350.3(ABCA4):c.4346G>A (p.Trp1449Ter)
|
rs61750143
|
|
NM_000350.3(ABCA4):c.4353-1G>T
|
rs61750144
|
|
NM_000350.3(ABCA4):c.4463G>A (p.Cys1488Tyr)
|
rs61750147
|
|
NM_000350.3(ABCA4):c.4468T>A (p.Cys1490Ser)
|
rs61750148
|
|
NM_000350.3(ABCA4):c.4506C>A (p.Cys1502Ter)
|
rs61750149
|
|
NM_000350.3(ABCA4):c.4535C>G (p.Pro1512Arg)
|
rs61750150
|
|
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs)
|
rs281865377
|
|
NM_000350.3(ABCA4):c.4539+1G>T
|
rs61751388
|
|
NM_000350.3(ABCA4):c.4539+24del
|
rs61754052
|
|
NM_000350.3(ABCA4):c.4539+35G>C
|
rs61754049
|
|
NM_000350.3(ABCA4):c.4539+3A>G
|
rs61754051
|
|
NM_000350.3(ABCA4):c.4540-2A>G
|
rs61752435
|
|
NM_000350.3(ABCA4):c.4549C>A (p.Arg1517Ser)
|
rs1800550
|
|
NM_000350.3(ABCA4):c.4574T>C (p.Leu1525Pro)
|
rs61750151
|
|
NM_000350.3(ABCA4):c.45G>A (p.Trp15Ter)
|
rs62645957
|
|
NM_000350.3(ABCA4):c.4668-15C>T
|
rs61754054
|
|
NM_000350.3(ABCA4):c.481G>A (p.Glu161Lys)
|
rs62645943
|
|
NM_000350.3(ABCA4):c.5044_5058del (p.Val1682_Val1686del)
|
rs62646872
|
|
NM_000350.3(ABCA4):c.5065T>C (p.Ser1689Pro)
|
rs61753020
|
|
NM_000350.3(ABCA4):c.5107C>G (p.Gln1703Glu)
|
rs61750565
|
|
NM_000350.3(ABCA4):c.5114G>T (p.Arg1705Leu)
|
rs61753021
|
|
NM_000350.3(ABCA4):c.5161_5162del (p.Thr1721fs)
|
rs61750566
|
|
NM_000350.3(ABCA4):c.5196+2T>C
|
rs61751405
|
|
NM_000350.3(ABCA4):c.5196+2T>G
|
rs61751405
|
|
NM_000350.3(ABCA4):c.5196+3_5196+6del
|
rs61753023
|
|
NM_000350.3(ABCA4):c.5196+3_5196+8del
|
rs61753024
|
|
NM_000350.3(ABCA4):c.5212_5222del (p.Ser1738fs)
|
rs281865403
|
|
NM_000350.3(ABCA4):c.5222_5232del (p.Leu1741fs)
|
rs61750569
|
|
NM_000350.3(ABCA4):c.5223_5233del (p.Val1742fs)
|
rs61750570
|
|
NM_000350.3(ABCA4):c.5248C>T (p.Gln1750Ter)
|
rs61753026
|
|
NM_000350.3(ABCA4):c.5281_5289del (p.Pro1761_Leu1763del)
|
rs61753027
|
|
NM_000350.3(ABCA4):c.5288T>C (p.Leu1763Pro)
|
rs61753028
|
|
NM_000350.3(ABCA4):c.5327_5328delinsTG (p.Pro1776Leu)
|
rs281865404
|
|
NM_000350.3(ABCA4):c.5337C>A (p.Tyr1779Ter)
|
rs61750573
|
|
NM_000350.3(ABCA4):c.5395A>G (p.Asn1799Asp)
|
rs61750574
|
|
NM_000350.3(ABCA4):c.5459G>C (p.Arg1820Pro)
|
rs62646875
|
|
NM_000350.3(ABCA4):c.5460+1G>A
|
rs61753030
|
|
NM_000350.3(ABCA4):c.5461-36del
|
rs61754661
|
|
NM_000350.3(ABCA4):c.5461-44dup
|
rs281865391
|
|
NM_000350.3(ABCA4):c.5461-50_5461-49insA
|
rs281865393
|
|
NM_000350.3(ABCA4):c.5512C>G (p.His1838Asp)
|
rs62642562
|
|
NM_000350.3(ABCA4):c.5512C>T (p.His1838Tyr)
|
rs62642562
|
|
NM_000350.3(ABCA4):c.5527C>T (p.Arg1843Trp)
|
rs62642576
|
|
NM_000350.3(ABCA4):c.5584+5G>A
|
rs61750576
|
|
NM_000350.3(ABCA4):c.5584+6T>C
|
rs61750633
|
|
NM_000350.3(ABCA4):c.5585-10T>C
|
rs61753031
|
|
NM_000350.3(ABCA4):c.5585-17T>A
|
rs61754664
|
|
NM_000350.3(ABCA4):c.5585-1G>A
|
rs61750634
|
|
NM_000350.3(ABCA4):c.5644A>G (p.Met1882Val)
|
rs62642577
|
|
NM_000350.3(ABCA4):c.5651T>A (p.Val1884Glu)
|
rs62642578
|
|
NM_000350.3(ABCA4):c.5653G>A (p.Glu1885Lys)
|
rs62642563
|
|
NM_000350.3(ABCA4):c.5668_5670del (p.Phe1890del)
|
rs61750635
|
|
NM_000350.3(ABCA4):c.5687T>A (p.Val1896Asp)
|
rs61750636
|
|
NM_000350.3(ABCA4):c.570G>C (p.Gln190His)
|
rs281865397
|
|
NM_000350.3(ABCA4):c.571-1G>T
|
rs61748533
|
|
NM_000350.3(ABCA4):c.571-29G>T
|
rs61753052
|
|
NM_000350.3(ABCA4):c.571-2A>G
|
rs61748534
|
|
NM_000350.3(ABCA4):c.5836-16dup
|
rs281865395
|
|
NM_000350.3(ABCA4):c.5836-2del
|
rs61750637
|
|
NM_000350.3(ABCA4):c.5836-36TC[3]
|
rs281865396
|
|
NM_000350.3(ABCA4):c.5836-40C>A
|
rs281865394
|
|
NM_000350.3(ABCA4):c.5886T>C (p.Val1962=)
|
rs62642568
|
|
NM_000350.3(ABCA4):c.5888del (p.Arg1963fs)
|
rs62642059
|
|
NM_000350.3(ABCA4):c.5898+1G>T
|
rs61750638
|
|
NM_000350.3(ABCA4):c.5912T>G (p.Leu1971Arg)
|
rs61753034
|
|
NM_000350.3(ABCA4):c.5914G>A (p.Gly1972Arg)
|
rs61753035
|
|
NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer)
|
rs61751389
|
|
NM_000350.3(ABCA4):c.5923G>C (p.Gly1975Arg)
|
rs61753036
|
|
NM_000350.3(ABCA4):c.5936C>T (p.Thr1979Ile)
|
rs61753037
|
|
NM_000350.3(ABCA4):c.5951_5952inv (p.Met1984Thr)
|
|
|
NM_000350.3(ABCA4):c.5961_5964del (p.Asp1988fs)
|
rs61750640
|
|
NM_000350.3(ABCA4):c.6005+1G>T
|
rs61748517
|
|
NM_000350.3(ABCA4):c.6006-16G>A
|
rs4147863
|
|
NM_000350.3(ABCA4):c.6076C>T (p.Leu2026=)
|
rs61748518
|
|
NM_000350.3(ABCA4):c.6104T>C (p.Leu2035Pro)
|
rs61750642
|
|
NM_000350.3(ABCA4):c.6166A>T (p.Lys2056Ter)
|
rs61750644
|
|
NM_000350.3(ABCA4):c.6179T>G (p.Leu2060Arg)
|
rs61753039
|
|
NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg)
|
rs61748536
|
|
NM_000350.3(ABCA4):c.6190G>C (p.Ala2064Pro)
|
rs61753040
|
|
NM_000350.3(ABCA4):c.6213C>T (p.Tyr2071=)
|
rs62642580
|
|
NM_000350.3(ABCA4):c.6229C>G (p.Arg2077Gly)
|
rs61750645
|
|
NM_000350.3(ABCA4):c.6229C>T (p.Arg2077Trp)
|
rs61750645
|
|
NM_000350.3(ABCA4):c.6238_6239del (p.Ser2080fs)
|
rs281865382
|
|
NM_000350.3(ABCA4):c.6276G>A (p.Val2092=)
|
rs61753042
|
|
NM_000350.3(ABCA4):c.6300del (p.Met2101fs)
|
rs61750647
|
|
NM_000350.3(ABCA4):c.6320G>C (p.Arg2107Pro)
|
rs62642564
|
|
NM_000350.3(ABCA4):c.6329G>A (p.Trp2110Ter)
|
rs62642565
|
|
NM_000350.3(ABCA4):c.6339C>G (p.Ile2113Met)
|
rs61750649
|
|
NM_000350.3(ABCA4):c.6352del (p.Arg2118fs)
|
rs61750650
|
|
NM_000350.3(ABCA4):c.6415C>T (p.Arg2139Trp)
|
rs61750653
|
|
NM_000350.3(ABCA4):c.6437G>A (p.Gly2146Asp)
|
rs61753044
|
|
NM_000350.3(ABCA4):c.6446G>T (p.Arg2149Leu)
|
rs61750655
|
|
NM_000350.3(ABCA4):c.6479A>G (p.Lys2160Arg)
|
rs281865405
|
|
NM_000350.3(ABCA4):c.6498C>G (p.Ile2166Met)
|
rs61751379
|
|
NM_000350.3(ABCA4):c.6519_6529del (p.Lys2175fs)
|
rs63749079
|
|
NM_000350.3(ABCA4):c.6545_6580del (p.Leu2182_Phe2193del)
|
rs63749058
|
|
NM_000350.3(ABCA4):c.6568del (p.Gln2190fs)
|
rs61751381
|
|
NM_000350.3(ABCA4):c.6601_6602del (p.Arg2201fs)
|
rs61751409
|
|
NM_000350.3(ABCA4):c.6609C>A (p.Tyr2203Ter)
|
rs61753045
|
|
NM_000350.3(ABCA4):c.664del (p.Ala222fs)
|
rs61748539
|
|
NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter)
|
rs61753046
|
|
NM_000350.3(ABCA4):c.666_676del (p.Lys223fs)
|
rs63749056
|
|
NM_000350.3(ABCA4):c.666_678del (p.Lys223fs)
|
rs63749055
|
|
NM_000350.3(ABCA4):c.667_678del (p.Lys223_Arg226del)
|
rs63749081
|
|
NM_000350.3(ABCA4):c.667_680del (p.Lys223fs)
|
rs63749082
|
|
NM_000350.3(ABCA4):c.6693C>T (p.Ile2231=)
|
rs1801626
|
|
NM_000350.3(ABCA4):c.6707_6714del (p.Val2236fs)
|
rs62646877
|
|
NM_000350.3(ABCA4):c.6708_6709insG (p.Thr2237fs)
|
rs61751260
|
|
NM_000350.3(ABCA4):c.6709dup (p.Thr2237fs)
|
rs281865383
|
|
NM_000350.3(ABCA4):c.671del (p.Thr224fs)
|
rs61751417
|
|
NM_000350.3(ABCA4):c.6729+1G>A
|
rs61751261
|
|
NM_000350.3(ABCA4):c.6730-27C>G
|
rs61748522
|
|
NM_000350.3(ABCA4):c.6750del (p.Lys2250fs)
|
rs281865406
|
|
NM_000350.3(ABCA4):c.6788G>T (p.Arg2263Leu)
|
rs281865407
|
|
NM_000350.3(ABCA4):c.6813C>T (p.Ala2271=)
|
rs281865384
|
|
NM_000350.3(ABCA4):c.730_731del (p.Leu244fs)
|
rs62645949
|
|
NM_000350.3(ABCA4):c.731T>C (p.Leu244Pro)
|
rs62646864
|
|
NM_000350.3(ABCA4):c.740A>T (p.Asn247Ile)
|
rs62645950
|
|
NM_000350.3(ABCA4):c.746A>G (p.Asp249Gly)
|
rs62646865
|
|
NM_000350.3(ABCA4):c.763C>G (p.Arg255Gly)
|
rs62645952
|
|
NM_000350.3(ABCA4):c.769-1G>T
|
rs61748542
|
|
NM_000350.3(ABCA4):c.769-5T>G
|
rs61750201
|
|
NM_000350.3(ABCA4):c.832del (p.Ser278fs)
|
rs61748543
|
|
NM_000350.3(ABCA4):c.859-11C>T
|
rs61753053
|
|
NM_000350.3(ABCA4):c.899C>A (p.Thr300Asn)
|
rs61748544
|
|
NM_000350.3(ABCA4):c.982G>T (p.Glu328Ter)
|
rs61751418
|
|
NM_000350.3(ABCA4):c.983A>T (p.Glu328Val)
|
rs61751419
|
|
NM_000350.3(ABCA4):c.989G>A (p.Gly330Asp)
|
rs61753058
|
|