NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile)
|
rs1801466
|
0.04126
|
NM_000350.3(ABCA4):c.4253+43G>A
|
rs61754045
|
0.00486
|
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu)
|
rs41292677
|
0.00308
|
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)
|
rs1800553
|
0.00269
|
NM_000350.3(ABCA4):c.5714+5G>A
|
rs61751407
|
0.00036
|
NM_000350.3(ABCA4):c.514G>A (p.Gly172Ser)
|
rs61748532
|
0.00033
|
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_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_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_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.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.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_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.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]
|
|
|