NM_000329.3(RPE65):c.11+5G>A
|
rs61751276
|
0.00014
|
NM_000329.3(RPE65):c.419G>A (p.Gly140Glu)
|
rs1191496583
|
0.00014
|
NM_000329.3(RPE65):c.370C>T (p.Arg124Ter)
|
rs61752877
|
0.00013
|
NM_000329.3(RPE65):c.272G>A (p.Arg91Gln)
|
rs61752873
|
0.00011
|
NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter)
|
rs774130993
|
0.00009
|
NM_000329.3(RPE65):c.1102T>C (p.Tyr368His)
|
rs62653011
|
0.00008
|
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp)
|
rs61752871
|
0.00006
|
NM_000329.3(RPE65):c.131G>A (p.Arg44Gln)
|
rs61751282
|
0.00004
|
NM_000329.3(RPE65):c.65T>C (p.Leu22Pro)
|
rs61751277
|
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.952T>A (p.Tyr318Asn)
|
rs61752905
|
0.00003
|
NM_000329.3(RPE65):c.1087C>A (p.Pro363Thr)
|
rs121917744
|
0.00002
|
NM_000329.3(RPE65):c.130C>T (p.Arg44Ter)
|
rs368088025
|
0.00002
|
NM_000329.3(RPE65):c.304G>T (p.Glu102Ter)
|
rs62642584
|
0.00002
|
NM_000329.3(RPE65):c.715T>G (p.Tyr239Asp)
|
rs61752896
|
0.00002
|
NM_000329.3(RPE65):c.74C>T (p.Pro25Leu)
|
rs199683808
|
0.00002
|
NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser)
|
rs61752909
|
0.00001
|
NM_000329.3(RPE65):c.11+2T>G
|
rs778768116
|
0.00001
|
NM_000329.3(RPE65):c.1249G>C (p.Glu417Gln)
|
rs62636299
|
0.00001
|
NM_000329.3(RPE65):c.1399C>G (p.Pro467Ala)
|
rs1395763356
|
0.00001
|
NM_000329.3(RPE65):c.344T>C (p.Ile115Thr)
|
rs1645929674
|
0.00001
|
NM_000329.3(RPE65):c.493C>T (p.Gln165Ter)
|
rs1202384396
|
0.00001
|
NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr)
|
rs61752883
|
0.00001
|
NM_000329.3(RPE65):c.560G>A (p.Gly187Glu)
|
rs752058510
|
0.00001
|
NM_000329.3(RPE65):c.700C>T (p.Arg234Ter)
|
rs61752895
|
0.00001
|
NM_000329.3(RPE65):c.725+2T>A
|
rs1355979496
|
0.00001
|
NM_000329.3(RPE65):c.907A>T (p.Lys303Ter)
|
rs61752904
|
0.00001
|
NM_000329.3(RPE65):c.917C>T (p.Thr306Ile)
|
rs1171545533
|
0.00001
|
NM_000329.3(RPE65):c.938A>G (p.His313Arg)
|
rs1375943362
|
0.00001
|
NM_000329.3(RPE65):c.95-2A>T
|
rs61751279
|
0.00001
|
NM_000329.3(RPE65):c.992G>A (p.Trp331Ter)
|
rs761471961
|
0.00001
|
NM_000329.2(RPE65):c.292_311del (p.Ile98Hisfs)
|
rs62642583
|
|
NM_000329.3(RPE65):c.1004_1005del (p.Glu335fs)
|
|
|
NM_000329.3(RPE65):c.1040G>A (p.Arg347His)
|
rs562037932
|
|
NM_000329.3(RPE65):c.1059dup (p.Lys354fs)
|
rs2100817031
|
|
NM_000329.3(RPE65):c.1067dup (p.Asn356fs)
|
rs281865520
|
|
NM_000329.3(RPE65):c.10C>T (p.Gln4Ter)
|
|
|
NM_000329.3(RPE65):c.10del (p.Gln4fs)
|
rs747393487
|
|
NM_000329.3(RPE65):c.1207_1210dup (p.Glu404fs)
|
rs62636295
|
|
NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys)
|
rs62636300
|
|
NM_000329.3(RPE65):c.1338+1G>A
|
rs1057518922
|
|
NM_000329.3(RPE65):c.1339-1G>C
|
|
|
NM_000329.3(RPE65):c.1345A>T (p.Lys449Ter)
|
|
|
NM_000329.3(RPE65):c.1384G>T (p.Glu462Ter)
|
rs62637006
|
|
NM_000329.3(RPE65):c.1409C>T (p.Pro470Leu)
|
rs774211361
|
|
NM_000329.3(RPE65):c.1418T>A (p.Val473Asp)
|
rs62637007
|
|
NM_000329.3(RPE65):c.1451-1G>A
|
rs1317871521
|
|
NM_000329.3(RPE65):c.1451-2del
|
rs2100805351
|
|
NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp)
|
rs62653015
|
|
NM_000329.3(RPE65):c.1503T>A (p.Tyr501Ter)
|
|
|
NM_000329.3(RPE65):c.1583G>T (p.Gly528Val)
|
rs1193631220
|
|
NM_000329.3(RPE65):c.1590C>A (p.Phe530Leu)
|
rs2100804954
|
|
NM_000329.3(RPE65):c.1590del (p.Phe530fs)
|
rs281865292
|
|
NM_000329.3(RPE65):c.190del (p.Gln64fs)
|
|
|
NM_000329.3(RPE65):c.200T>G (p.Leu67Arg)
|
rs1344724754
|
|
NM_000329.3(RPE65):c.202C>T (p.His68Tyr)
|
rs61752866
|
|
NM_000329.3(RPE65):c.208T>G (p.Phe70Val)
|
|
|
NM_000329.3(RPE65):c.246-11A>G
|
rs905365719
|
|
NM_000329.3(RPE65):c.310G>A (p.Gly104Ser)
|
|
|
NM_000329.3(RPE65):c.353+1G>A
|
|
|
NM_000329.3(RPE65):c.354-2A>G
|
|
|
NM_000329.3(RPE65):c.361del (p.Ser121fs)
|
rs121918844
|
|
NM_000329.3(RPE65):c.361dup (p.Ser121fs)
|
rs121918844
|
|
NM_000329.3(RPE65):c.36C>G (p.Tyr12Ter)
|
|
|
NM_000329.3(RPE65):c.411C>A (p.Tyr137Ter)
|
|
|
NM_000329.3(RPE65):c.46_49del (p.Phe16fs)
|
rs866809120
|
|
NM_000329.3(RPE65):c.544C>A (p.His182Asn)
|
rs61752884
|
|
NM_000329.3(RPE65):c.545A>G (p.His182Arg)
|
rs1459110114
|
|
NM_000329.3(RPE65):c.549del (p.Ile183fs)
|
|
|
NM_000329.3(RPE65):c.61del (p.Glu21fs)
|
rs758550330
|
|
NM_000329.3(RPE65):c.637C>T (p.Gln213Ter)
|
rs777966849
|
|
NM_000329.3(RPE65):c.643+2T>A
|
rs1645896934
|
|
NM_000329.3(RPE65):c.644-2A>G
|
|
|
NM_000329.3(RPE65):c.644-2A>T
|
rs61752891
|
|
NM_000329.3(RPE65):c.672_673del (p.Glu224fs)
|
|
|
NM_000329.3(RPE65):c.725+1G>A
|
rs1260969698
|
|
NM_000329.3(RPE65):c.746A>G (p.Tyr249Cys)
|
rs373652862
|
|
NM_000329.3(RPE65):c.842_843del (p.Glu280_Ser281insTer)
|
|
|
NM_000329.3(RPE65):c.858+1dup
|
|
|
NM_000329.3(RPE65):c.859-1G>A
|
|
|
NM_000329.3(RPE65):c.859G>T (p.Val287Phe)
|
rs281865289
|
|
NM_000329.3(RPE65):c.886del (p.Arg296fs)
|
rs746127684
|
|
NM_000329.3(RPE65):c.893del (p.Lys298fs)
|
rs61752902
|
|
NM_000329.3(RPE65):c.894del (p.Lys298fs)
|
rs61752903
|
|
NM_000329.3(RPE65):c.906_907del (p.Asn302fs)
|
|
|
NM_000329.3(RPE65):c.90delinsGAGCTC (p.Thr31fs)
|
|
|
NM_000329.3(RPE65):c.912C>G (p.Tyr304Ter)
|
rs2100818575
|
|
NM_000329.3(RPE65):c.93A>G (p.Thr31=)
|
rs2100834154
|
|
NM_000329.3(RPE65):c.94G>T (p.Gly32Cys)
|
rs768448761
|
|
NM_000329.3(RPE65):c.962dup (p.Asn321fs)
|
rs61752906
|
|
NM_000329.3(RPE65):c.998+1G>A
|
rs1645879495
|
|
NM_000329.3(RPE65):c.999-1G>T
|
|
|