NM_000329.3(RPE65):c.1056G>A (p.Glu352=)
|
rs12145904
|
0.15903
|
NM_000329.3(RPE65):c.11+5G>A
|
rs61751276
|
0.00014
|
NM_000329.3(RPE65):c.370C>T (p.Arg124Ter)
|
rs61752877
|
0.00013
|
NM_000329.3(RPE65):c.441A>G (p.Thr147=)
|
rs185049543
|
0.00012
|
NM_000329.3(RPE65):c.1154C>T (p.Thr385Met)
|
rs201379753
|
0.00009
|
NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter)
|
rs774130993
|
0.00009
|
NM_000329.3(RPE65):c.1238G>A (p.Arg413His)
|
rs200950327
|
0.00006
|
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp)
|
rs61752871
|
0.00006
|
NM_000329.3(RPE65):c.565G>A (p.Val189Ile)
|
rs752990312
|
0.00005
|
NM_000329.3(RPE65):c.1449T>C (p.Asp483=)
|
rs201116540
|
0.00004
|
NM_000329.3(RPE65):c.617T>C (p.Ile206Thr)
|
rs768445391
|
0.00004
|
NM_000329.3(RPE65):c.118G>A (p.Gly40Ser)
|
rs61751281
|
0.00003
|
NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp)
|
rs121917745
|
0.00003
|
NM_000329.3(RPE65):c.224G>A (p.Gly75Glu)
|
rs201062742
|
0.00003
|
NM_000329.3(RPE65):c.130C>T (p.Arg44Ter)
|
rs368088025
|
0.00002
|
NM_000329.3(RPE65):c.74C>T (p.Pro25Leu)
|
rs199683808
|
0.00002
|
NM_000329.3(RPE65):c.1249G>C (p.Glu417Gln)
|
rs62636299
|
0.00001
|
NM_000329.3(RPE65):c.302C>T (p.Thr101Ile)
|
rs1444234037
|
0.00001
|
NM_000329.3(RPE65):c.375A>G (p.Gly125=)
|
rs992113946
|
0.00001
|
NM_000329.3(RPE65):c.701G>A (p.Arg234Gln)
|
rs577193739
|
0.00001
|
NM_000329.3(RPE65):c.783G>T (p.Leu261=)
|
rs188493184
|
0.00001
|
NM_000329.3(RPE65):c.95-2A>T
|
rs61751279
|
0.00001
|
NM_000329.3(RPE65):c.102C>T (p.Ile34=)
|
|
|
NM_000329.3(RPE65):c.1040G>A (p.Arg347His)
|
rs562037932
|
|
NM_000329.3(RPE65):c.1067dup (p.Asn356fs)
|
rs281865520
|
|
NM_000329.3(RPE65):c.113T>G (p.Leu38Arg)
|
rs1645946362
|
|
NM_000329.3(RPE65):c.1150G>T (p.Val384Phe)
|
rs1645826797
|
|
NM_000329.3(RPE65):c.1289C>A (p.Pro430His)
|
|
|
NM_000329.3(RPE65):c.1298A>G (p.Tyr433Cys)
|
rs147206805
|
|
NM_000329.3(RPE65):c.1309C>T (p.Leu437Phe)
|
rs1645824260
|
|
NM_000329.3(RPE65):c.1408C>T (p.Pro470Ser)
|
|
|
NM_000329.3(RPE65):c.1420T>G (p.Ser474Ala)
|
|
|
NM_000329.3(RPE65):c.1430A>G (p.Asp477Gly)
|
rs1571158279
|
|
NM_000329.3(RPE65):c.1484C>A (p.Ala495Glu)
|
|
|
NM_000329.3(RPE65):c.317G>A (p.Cys106Tyr)
|
|
|
NM_000329.3(RPE65):c.331C>A (p.Pro111Thr)
|
rs886042220
|
|
NM_000329.3(RPE65):c.377T>C (p.Val126Ala)
|
|
|
NM_000329.3(RPE65):c.575T>G (p.Ile192Ser)
|
|
|
NM_000329.3(RPE65):c.57_58del (p.Glu20fs)
|
rs62642582
|
|
NM_000329.3(RPE65):c.619G>C (p.Val207Leu)
|
|
|
NM_000329.3(RPE65):c.683A>C (p.Gln228Pro)
|
rs886046510
|
|
NM_000329.3(RPE65):c.709C>T (p.Pro237Ser)
|
|
|
NM_000329.3(RPE65):c.725G>A (p.Ser242Asn)
|
|
|
NM_000329.3(RPE65):c.726-2A>C
|
rs878853372
|
|
NM_000329.3(RPE65):c.893del (p.Lys298fs)
|
rs61752902
|
|
NM_000329.3(RPE65):c.962dup (p.Asn321fs)
|
rs61752906
|
|