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.433G>A (p.Ala145Thr)
|
rs767528365
|
0.00012
|
NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter)
|
rs774130993
|
0.00009
|
NM_000329.3(RPE65):c.242G>T (p.Arg81Ile)
|
rs1429137932
|
0.00009
|
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.617T>C (p.Ile206Thr)
|
rs768445391
|
0.00004
|
NM_000329.3(RPE65):c.65T>C (p.Leu22Pro)
|
rs61751277
|
0.00004
|
NM_000329.3(RPE65):c.952T>A (p.Tyr318Asn)
|
rs61752905
|
0.00003
|
NM_000329.3(RPE65):c.1338G>T (p.Arg446Ser)
|
rs1420672586
|
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.1223T>C (p.Leu408Pro)
|
rs62636298
|
0.00001
|
NM_000329.3(RPE65):c.1244C>T (p.Ala415Val)
|
rs1064795255
|
0.00001
|
NM_000329.3(RPE65):c.1249G>C (p.Glu417Gln)
|
rs62636299
|
0.00001
|
NM_000329.3(RPE65):c.235T>C (p.Tyr79His)
|
rs61752869
|
0.00001
|
NM_000329.3(RPE65):c.2T>C (p.Met1Thr)
|
rs281865285
|
0.00001
|
NM_000329.3(RPE65):c.302C>T (p.Thr101Ile)
|
rs1444234037
|
0.00001
|
NM_000329.3(RPE65):c.329A>G (p.Asp110Gly)
|
rs1571170561
|
0.00001
|
NM_000329.3(RPE65):c.484A>C (p.Thr162Pro)
|
rs774309607
|
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.917C>T (p.Thr306Ile)
|
rs1171545533
|
0.00001
|
NM_000329.3(RPE65):c.938A>G (p.His313Arg)
|
rs1375943362
|
0.00001
|
NC_000001.10:g.(68896860_68896964)_(68897269_68903869)del
|
|
|
NM_000329.3(RPE65):c.1004A>T (p.Glu335Val)
|
rs1571164534
|
|
NM_000329.3(RPE65):c.1004_1005del (p.Glu335fs)
|
|
|
NM_000329.3(RPE65):c.1040G>A (p.Arg347His)
|
rs562037932
|
|
NM_000329.3(RPE65):c.1087C>T (p.Pro363Ser)
|
|
|
NM_000329.3(RPE65):c.10C>T (p.Gln4Ter)
|
|
|
NM_000329.3(RPE65):c.10del (p.Gln4fs)
|
rs747393487
|
|
NM_000329.3(RPE65):c.1101A>G (p.Arg367=)
|
rs1553152989
|
|
NM_000329.3(RPE65):c.1103A>G (p.Tyr368Cys)
|
rs62653012
|
|
NM_000329.3(RPE65):c.119G>A (p.Gly40Asp)
|
|
|
NM_000329.3(RPE65):c.12-1G>C
|
rs1348031618
|
|
NM_000329.3(RPE65):c.12-2A>T
|
|
|
NM_000329.3(RPE65):c.1243+1G>A
|
rs1421696563
|
|
NM_000329.3(RPE65):c.1243+1G>C
|
|
|
NM_000329.3(RPE65):c.1243G>A (p.Ala415Thr)
|
rs1571158755
|
|
NM_000329.3(RPE65):c.1250A>G (p.Glu417Gly)
|
|
|
NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys)
|
rs62636300
|
|
NM_000329.3(RPE65):c.1301C>A (p.Ala434Glu)
|
rs34627040
|
|
NM_000329.3(RPE65):c.1328T>C (p.Val443Ala)
|
rs1645824187
|
|
NM_000329.3(RPE65):c.1339-1G>C
|
|
|
NM_000329.3(RPE65):c.1339-2A>G
|
|
|
NM_000329.3(RPE65):c.1345A>T (p.Lys449Ter)
|
|
|
NM_000329.3(RPE65):c.1380G>A (p.Trp460Ter)
|
rs1645823028
|
|
NM_000329.3(RPE65):c.1384G>T (p.Glu462Ter)
|
rs62637006
|
|
NM_000329.3(RPE65):c.1399C>A (p.Pro467Thr)
|
rs1395763356
|
|
NM_000329.3(RPE65):c.1399C>T (p.Pro467Ser)
|
rs1395763356
|
|
NM_000329.3(RPE65):c.1404_1413del (p.Glu469fs)
|
rs2100806889
|
|
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.143G>A (p.Gly48Glu)
|
rs2100831413
|
|
NM_000329.3(RPE65):c.1440AGA[1] (p.Glu481del)
|
rs1557595745
|
|
NM_000329.3(RPE65):c.1451-1G>A
|
rs1317871521
|
|
NM_000329.3(RPE65):c.1451-2A>C
|
rs1557595199
|
|
NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp)
|
rs62653015
|
|
NM_000329.3(RPE65):c.1583G>T (p.Gly528Val)
|
rs1193631220
|
|
NM_000329.3(RPE65):c.186_191del (p.Asp62_Gln64delinsGlu)
|
rs1645945582
|
|
NM_000329.3(RPE65):c.187G>C (p.Gly63Arg)
|
rs1645945643
|
|
NM_000329.3(RPE65):c.202C>T (p.His68Tyr)
|
rs61752866
|
|
NM_000329.3(RPE65):c.215T>C (p.Phe72Ser)
|
rs1553153597
|
|
NM_000329.3(RPE65):c.246-11A>G
|
rs905365719
|
|
NM_000329.3(RPE65):c.272G>C (p.Arg91Pro)
|
rs61752873
|
|
NM_000329.3(RPE65):c.310G>A (p.Gly104Ser)
|
|
|
NM_000329.3(RPE65):c.311G>T (p.Gly104Val)
|
rs61752875
|
|
NM_000329.3(RPE65):c.314C>A (p.Thr105Asn)
|
rs1260914084
|
|
NM_000329.3(RPE65):c.331C>A (p.Pro111Thr)
|
rs886042220
|
|
NM_000329.3(RPE65):c.353+1G>A
|
|
|
NM_000329.3(RPE65):c.354-1G>A
|
rs2100827985
|
|
NM_000329.3(RPE65):c.354-1G>T
|
rs2100827985
|
|
NM_000329.3(RPE65):c.354-2del
|
rs2100827990
|
|
NM_000329.3(RPE65):c.36C>G (p.Tyr12Ter)
|
|
|
NM_000329.3(RPE65):c.407T>G (p.Val136Gly)
|
rs1645928251
|
|
NM_000329.3(RPE65):c.411C>A (p.Tyr137Ter)
|
|
|
NM_000329.3(RPE65):c.433G>C (p.Ala145Pro)
|
rs767528365
|
|
NM_000329.3(RPE65):c.434C>A (p.Ala145Asp)
|
|
|
NM_000329.3(RPE65):c.444G>T (p.Glu148Asp)
|
rs61752882
|
|
NM_000329.3(RPE65):c.496-1G>A
|
rs2100821984
|
|
NM_000329.3(RPE65):c.536C>T (p.Ala179Val)
|
rs1645898265
|
|
NM_000329.3(RPE65):c.544C>A (p.His182Asn)
|
rs61752884
|
|
NM_000329.3(RPE65):c.549del (p.Ile183fs)
|
|
|
NM_000329.3(RPE65):c.556G>A (p.Asp186Asn)
|
rs1553153243
|
|
NM_000329.3(RPE65):c.571A>G (p.Asn191Asp)
|
rs1189903735
|
|
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.672_673del (p.Glu224fs)
|
|
|
NM_000329.3(RPE65):c.718G>T (p.Val240Phe)
|
rs192907397
|
|
NM_000329.3(RPE65):c.725+1G>A
|
rs1260969698
|
|
NM_000329.3(RPE65):c.770T>G (p.Val257Gly)
|
rs1645883131
|
|
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.859-2A>C
|
|
|
NM_000329.3(RPE65):c.859G>T (p.Val287Phe)
|
rs281865289
|
|
NM_000329.3(RPE65):c.886del (p.Arg296fs)
|
rs746127684
|
|
NM_000329.3(RPE65):c.89dup (p.Thr31fs)
|
rs281865286
|
|
NM_000329.3(RPE65):c.90delinsGAGCTC (p.Thr31fs)
|
|
|
NM_000329.3(RPE65):c.912C>G (p.Tyr304Ter)
|
rs2100818575
|
|
NM_000329.3(RPE65):c.914G>T (p.Arg305Ile)
|
rs1645880293
|
|
NM_000329.3(RPE65):c.923C>T (p.Pro308Leu)
|
rs1645880232
|
|
NM_000329.3(RPE65):c.93A>G (p.Thr31=)
|
rs2100834154
|
|
NM_000329.3(RPE65):c.989G>A (p.Cys330Tyr)
|
rs61752908
|
|
NM_000329.3(RPE65):c.991_993dup (p.Trp331dup)
|
rs1571165140
|
|
NM_000329.3(RPE65):c.[1067dup];[1543C>T]
|
|
|