NM_000350.3(ABCA4):c.5329A>T (p.Met1777Leu)
|
rs375184282
|
0.00008
|
NM_000350.3(ABCA4):c.764G>A (p.Arg255His)
|
rs148387660
|
0.00005
|
NM_000350.3(ABCA4):c.5198T>C (p.Met1733Thr)
|
rs765563320
|
0.00004
|
NM_000350.3(ABCA4):c.5560G>T (p.Val1854Leu)
|
rs374687000
|
0.00004
|
NM_000350.3(ABCA4):c.3194G>A (p.Gly1065Asp)
|
rs886039300
|
0.00001
|
NM_000350.3(ABCA4):c.463G>A (p.Asp155Asn)
|
rs1570426424
|
0.00001
|
NM_000350.3(ABCA4):c.5113C>T (p.Arg1705Trp)
|
rs771038310
|
0.00001
|
NM_000350.3(ABCA4):c.5774G>T (p.Arg1925Ile)
|
rs1208195953
|
0.00001
|
NM_000350.2(ABCA4):c.571_580dup
|
rs1662216783
|
|
NM_000350.2(ABCA4):c.[5512C>G;5882G>A]
|
|
|
NM_000350.3(ABCA4):c.1454del (p.Gly485fs)
|
rs1661577361
|
|
NM_000350.3(ABCA4):c.1765del (p.Trp589fs)
|
rs1557787559
|
|
NM_000350.3(ABCA4):c.1912C>T (p.Pro638Ser)
|
rs754088610
|
|
NM_000350.3(ABCA4):c.2012_2013del (p.Val671fs)
|
rs1661098509
|
|
NM_000350.3(ABCA4):c.2294G>C (p.Ser765Thr)
|
rs61749429
|
|
NM_000350.3(ABCA4):c.2556del (p.Leu852fs)
|
rs1660937747
|
|
NM_000350.3(ABCA4):c.2579T>C (p.Val860Ala)
|
rs1660936779
|
|
NM_000350.3(ABCA4):c.2588-161_2615del
|
rs1660844326
|
|
NM_000350.3(ABCA4):c.2588-7_2588-5delinsGG
|
rs1660845802
|
|
NM_000350.3(ABCA4):c.2731_2732del (p.Glu911fs)
|
rs1660761326
|
|
NM_000350.3(ABCA4):c.2875A>T (p.Thr959Ser)
|
rs368846708
|
|
NM_000350.3(ABCA4):c.346_347del (p.Ala116fs)
|
rs1662507319
|
|
NM_000350.3(ABCA4):c.3583_3584insGT (p.Leu1195fs)
|
rs1660447204
|
|
NM_000350.3(ABCA4):c.4128G>C (p.Gln1376His)
|
rs1064797113
|
|
NM_000350.3(ABCA4):c.4269C>T (p.Gly1423=)
|
rs778456901
|
|
NM_000350.3(ABCA4):c.4598T>C (p.Phe1533Ser)
|
rs1557770154
|
|
NM_000350.3(ABCA4):c.4635del (p.Ser1545_Leu1546insTer)
|
rs1659954489
|
|
NM_000350.3(ABCA4):c.517dup (p.Leu173fs)
|
rs1662327418
|
|
NM_000350.3(ABCA4):c.5907CCT[3] (p.Leu1971_Gly1972insLeu)
|
rs1659430629
|
|
NM_000350.3(ABCA4):c.639del (p.Phe213fs)
|
rs1662213462
|
|
NM_000350.3(ABCA4):c.6816+2T>A
|
rs112005636
|
|