NM_001034853.2(RPGR):c.619+308T>G
|
rs5963402
|
0.42946
|
NM_001034853.2(RPGR):c.469+63C>T
|
rs3810692
|
0.35456
|
NM_001034853.2(RPGR):c.2863T>G (p.Trp955Gly)
|
rs765224300
|
0.29559
|
NM_001034853.2(RPGR):c.1507-101A>T
|
rs5918520
|
0.28746
|
NM_001034853.2(RPGR):c.29-15G>A
|
rs6651585
|
0.21451
|
NM_000328.3(RPGR):c.2241+11T>C
|
rs4084271
|
0.20121
|
NM_001034853.2(RPGR):c.469+115A>G
|
rs3810691
|
0.18442
|
NM_000328.3(RPGR):c.2149+247A>G
|
rs67059793
|
0.16907
|
NM_000328.3(RPGR):c.1906-137T>A
|
rs7876914
|
0.15848
|
NM_001034853.2(RPGR):c.310+270C>T
|
rs5917198
|
0.15196
|
NM_001034853.2(RPGR):c.1059+67A>G
|
rs11266204
|
0.13828
|
NM_001034853.2(RPGR):c.1245+16A>G
|
rs5918522
|
0.13807
|
NM_001034853.2(RPGR):c.2341G>A (p.Ala781Thr)
|
rs5917557
|
0.13157
|
NM_001034853.2(RPGR):c.935-71G>A
|
rs41311843
|
0.12871
|
NM_001034853.2(RPGR):c.3396C>T (p.Asn1132=)
|
rs12687163
|
0.12023
|
NM_001034853.2(RPGR):c.1164G>A (p.Ala388=)
|
rs1801686
|
0.11812
|
NM_001034853.2(RPGR):c.1697G>A (p.Gly566Glu)
|
rs1801688
|
0.09526
|
NM_001034853.2(RPGR):c.*233A>C
|
rs79675956
|
0.09450
|
NM_001034853.2(RPGR):c.1572+11A>G
|
rs62635008
|
0.09352
|
NM_001034853.2(RPGR):c.1754-103C>T
|
rs41303691
|
0.09330
|
NM_001034853.2(RPGR):c.1507-97T>C
|
rs62635007
|
0.09306
|
NM_001034853.2(RPGR):c.1274G>A (p.Arg425Lys)
|
rs1801687
|
0.09261
|
NM_001034853.2(RPGR):c.2223G>A (p.Glu741=)
|
rs147619484
|
0.08849
|
NM_001034853.2(RPGR):c.3430G>A (p.Val1144Ile)
|
rs12688514
|
0.07772
|
NM_001034853.2(RPGR):c.3219C>T (p.Gly1073=)
|
rs111787313
|
0.06277
|
NM_001034853.2(RPGR):c.3264G>A (p.Val1088=)
|
rs78736275
|
0.06219
|
NM_001034853.2(RPGR):c.1291A>G (p.Ile431Val)
|
rs62635003
|
0.05955
|
NM_000328.3(RPGR):c.2149+46C>T
|
rs41312110
|
0.03703
|
NM_001034853.2(RPGR):c.935-277T>C
|
rs140825561
|
0.03411
|
NM_001034853.2(RPGR):c.247+37A>C
|
rs112264839
|
0.03398
|
NM_001034853.2(RPGR):c.620-41T>C
|
rs45486397
|
0.03373
|
NM_001034853.2(RPGR):c.223A>G (p.Ile75Val)
|
rs111631988
|
0.03363
|
NM_001034853.2(RPGR):c.1414+127A>G
|
rs139924845
|
0.03306
|
NM_001034853.2(RPGR):c.1060-203G>A
|
rs114972812
|
0.03108
|
NM_000328.3(RPGR):c.1906-130G>A
|
rs147001251
|
0.02832
|
NM_001034853.2(RPGR):c.1059+25T>C
|
rs80178653
|
0.02702
|
NM_000328.3(RPGR):c.2302C>A (p.Pro768Thr)
|
rs34117835
|
0.02675
|
NM_001034853.2(RPGR):c.310+167G>A
|
rs41303211
|
0.02575
|
NM_001034853.2(RPGR):c.247+235C>T
|
rs73192571
|
0.02290
|
NM_001034853.2(RPGR):c.247+205C>T
|
rs141732238
|
0.02260
|
NM_001034853.2(RPGR):c.552G>T (p.Gln184His)
|
rs5963403
|
0.02128
|
NM_001034853.2(RPGR):c.3231T>A (p.Asn1077Lys)
|
rs62636730
|
0.02044
|
NM_001034853.2(RPGR):c.934+92G>C
|
rs41312159
|
0.02026
|
NM_000328.3(RPGR):c.2150-165T>G
|
rs3896245
|
0.02024
|
NM_001034853.2(RPGR):c.1598C>T (p.Thr533Met)
|
rs41312104
|
0.02014
|
NM_001034853.2(RPGR):c.*72A>G
|
rs139467624
|
0.01996
|
NM_000328.3(RPGR):c.2242-105G>A
|
rs140748292
|
0.01927
|
NM_001034853.2(RPGR):c.1415-240G>A
|
rs150760601
|
0.01608
|
NM_001034853.2(RPGR):c.1059+409T>C
|
rs112928193
|
0.01561
|
NM_001034853.2(RPGR):c.1059+587T>C
|
rs147234036
|
0.01560
|
NM_001034853.2(RPGR):c.1506+140A>G
|
rs188058017
|
0.01259
|
NM_001034853.2(RPGR):c.1414+66T>C
|
rs149312408
|
0.01204
|
NM_001034853.2(RPGR):c.935-125A>G
|
rs145168133
|
0.01186
|
NM_000328.3(RPGR):c.2242-8T>C
|
rs112368541
|
0.01109
|
NM_001034853.2(RPGR):c.2808A>T (p.Glu936Asp)
|
rs187844918
|
0.01026
|
NM_001034853.2(RPGR):c.2569A>G (p.Lys857Glu)
|
rs1250133030
|
0.00981
|
NM_001034853.2(RPGR):c.2411G>A (p.Arg804Lys)
|
rs147388235
|
0.00850
|
NM_001034853.2(RPGR):c.2801A>G (p.Glu934Gly)
|
rs751314374
|
0.00844
|
NM_001034853.2(RPGR):c.1367A>G (p.Gln456Arg)
|
rs144635565
|
0.00806
|
NM_001034853.2(RPGR):c.2057T>A (p.Met686Lys)
|
rs151247357
|
0.00794
|
NM_001034853.2(RPGR):c.29-99A>G
|
rs184818920
|
0.00779
|
NM_001034853.2(RPGR):c.1033A>G (p.Asn345Asp)
|
rs41305223
|
0.00731
|
NM_001034853.2(RPGR):c.1296A>T (p.Glu432Asp)
|
rs28718831
|
0.00730
|
NM_001034853.2(RPGR):c.3407G>A (p.Gly1136Asp)
|
rs150960964
|
0.00656
|
NM_001034853.2(RPGR):c.778+13T>A
|
rs199625400
|
0.00624
|
NM_001034853.2(RPGR):c.2853G>A (p.Glu951=)
|
rs766376194
|
0.00481
|
NM_001034853.2(RPGR):c.310+132A>G
|
rs143415085
|
0.00421
|
NM_001034853.2(RPGR):c.905G>C (p.Cys302Ser)
|
rs62640590
|
0.00361
|
NM_001034853.2(RPGR):c.2499T>G (p.Gly833=)
|
rs752979508
|
0.00274
|
NM_001034853.2(RPGR):c.2793G>A (p.Glu931=)
|
rs1446705794
|
0.00203
|
NM_001034853.2(RPGR):c.732G>A (p.Lys244=)
|
rs62638654
|
0.00191
|
NM_000328.3(RPGR):c.2324T>C (p.Ile775Thr)
|
rs145289281
|
0.00087
|
NM_001034853.2(RPGR):c.2898G>A (p.Gly966=)
|
rs1064797363
|
0.00073
|
NM_001034853.2(RPGR):c.2634G>A (p.Gly878=)
|
rs371230592
|
0.00067
|
NM_001034853.2(RPGR):c.2895G>A (p.Glu965=)
|
rs762437958
|
0.00056
|
NM_001034853.2(RPGR):c.1240G>C (p.Glu414Gln)
|
rs150549982
|
0.00046
|
NM_001034853.2(RPGR):c.1399C>A (p.Gln467Lys)
|
rs774321455
|
0.00046
|
NM_001034853.2(RPGR):c.222C>T (p.Ala74=)
|
rs143521661
|
0.00045
|
NM_001034853.2(RPGR):c.154+14T>C
|
rs200069705
|
0.00040
|
NM_001034853.2(RPGR):c.1414+5C>T
|
rs367627674
|
0.00039
|
NM_001034853.2(RPGR):c.30T>A (p.Asp10Glu)
|
rs202156474
|
0.00037
|
NM_001034853.2(RPGR):c.2922G>A (p.Gly974=)
|
rs769179127
|
0.00036
|
NM_001034853.2(RPGR):c.1059+6G>A
|
rs377731326
|
0.00035
|
NM_001034853.2(RPGR):c.785C>G (p.Ala262Gly)
|
rs138018739
|
0.00035
|
NM_001034853.2(RPGR):c.141T>G (p.Ser47=)
|
rs62638631
|
0.00034
|
NM_001034853.2(RPGR):c.153C>T (p.Thr51=)
|
rs201242851
|
0.00033
|
NM_000328.3(RPGR):c.2323A>G (p.Ile775Val)
|
rs147649203
|
0.00032
|
NM_000328.3(RPGR):c.1906G>T (p.Asp636Tyr)
|
rs770101727
|
0.00031
|
NM_001034853.2(RPGR):c.1721C>T (p.Thr574Met)
|
rs202013664
|
0.00027
|
NM_001034853.2(RPGR):c.1507-18A>G
|
rs113851995
|
0.00021
|
NM_000328.3(RPGR):c.2365G>A (p.Asp789Asn)
|
rs113968324
|
0.00020
|
NM_001034853.2(RPGR):c.1754-10C>G
|
rs368767915
|
0.00018
|
NM_001034853.2(RPGR):c.2517A>G (p.Glu839=)
|
rs755138994
|
0.00016
|
NM_001034853.2(RPGR):c.2729G>A (p.Gly910Glu)
|
rs749762268
|
0.00016
|
NM_001034853.2(RPGR):c.394G>A (p.Val132Ile)
|
rs768274240
|
0.00016
|
NM_001034853.2(RPGR):c.1710G>A (p.Thr570=)
|
rs138347728
|
0.00015
|
NM_001034853.2(RPGR):c.310+10T>C
|
rs373028441
|
0.00015
|
NM_001034853.2(RPGR):c.1176G>C (p.Pro392=)
|
rs149742786
|
0.00014
|
NM_001034853.2(RPGR):c.1709C>T (p.Thr570Met)
|
rs202154504
|
0.00013
|
NM_001034853.2(RPGR):c.1371G>C (p.Glu457Asp)
|
rs371226433
|
0.00012
|
NM_001034853.2(RPGR):c.1608A>T (p.Thr536=)
|
rs145089607
|
0.00012
|
NM_001034853.2(RPGR):c.1708A>G (p.Thr570Ala)
|
rs768169831
|
0.00012
|
NM_001034853.2(RPGR):c.1059+363G>A
|
rs1410177435
|
0.00010
|
NM_001034853.2(RPGR):c.1163C>T (p.Ala388Val)
|
rs199661899
|
0.00010
|
NM_001034853.2(RPGR):c.3402A>C (p.Pro1134=)
|
rs199602213
|
0.00010
|
NM_001034853.2(RPGR):c.36T>G (p.Gly12=)
|
rs769123303
|
0.00010
|
NM_001034853.2(RPGR):c.1098T>C (p.Ala366=)
|
rs369391462
|
0.00008
|
NM_001034853.2(RPGR):c.619+6A>G
|
rs760782164
|
0.00008
|
NM_000328.3(RPGR):c.2242-6T>C
|
rs771389612
|
0.00006
|
NM_001034853.2(RPGR):c.1630A>G (p.Ser544Gly)
|
rs878853953
|
0.00006
|
NM_000328.3(RPGR):c.2152T>C (p.Tyr718His)
|
rs762173989
|
0.00005
|
NM_001034853.2(RPGR):c.1131C>T (p.Phe377=)
|
rs17852968
|
0.00005
|
NM_001034853.2(RPGR):c.1145A>T (p.Asp382Val)
|
rs757714144
|
0.00005
|
NM_001034853.2(RPGR):c.1245+6A>G
|
rs886038281
|
0.00005
|
NM_001034853.2(RPGR):c.1687G>A (p.Val563Met)
|
rs148334278
|
0.00005
|
NM_001034853.2(RPGR):c.373G>A (p.Glu125Lys)
|
rs769175863
|
0.00005
|
NM_001034853.2(RPGR):c.415G>A (p.Glu139Lys)
|
rs62638645
|
0.00005
|
NM_001034853.2(RPGR):c.865A>G (p.Ile289Val)
|
rs62640587
|
0.00005
|
NM_000328.3(RPGR):c.2301G>A (p.Glu767=)
|
rs749909061
|
0.00004
|
NM_000328.3(RPGR):c.2445A>G (p.Leu815=)
|
rs771798016
|
0.00004
|
NM_001034853.2(RPGR):c.1170T>G (p.Phe390Leu)
|
rs765979499
|
0.00004
|
NM_001034853.2(RPGR):c.1508C>G (p.Thr503Arg)
|
rs374555833
|
0.00004
|
NM_000328.3(RPGR):c.2133C>T (p.Tyr711=)
|
rs779998371
|
0.00003
|
NM_000328.3(RPGR):c.2206A>G (p.Thr736Ala)
|
rs746373784
|
0.00003
|
NM_001034853.2(RPGR):c.1099C>G (p.Pro367Ala)
|
rs769641256
|
0.00003
|
NM_001034853.2(RPGR):c.1356G>A (p.Glu452=)
|
rs763638295
|
0.00003
|
NM_001034853.2(RPGR):c.155-10C>T
|
rs757403373
|
0.00003
|
NM_001034853.2(RPGR):c.1728C>T (p.Ile576=)
|
rs145682975
|
0.00003
|
NM_000328.3(RPGR):c.1935A>G (p.Leu645=)
|
rs781266050
|
0.00002
|
NM_000328.3(RPGR):c.1968T>G (p.Ala656=)
|
rs1007967007
|
0.00002
|
NM_001034853.2(RPGR):c.1257A>C (p.Pro419=)
|
rs759743089
|
0.00002
|
NM_001034853.2(RPGR):c.1309C>T (p.Leu437Phe)
|
rs531930581
|
0.00002
|
NM_001034853.2(RPGR):c.1695A>G (p.Gln565=)
|
rs1315296776
|
0.00002
|
NM_001034853.2(RPGR):c.2543del (p.Glu848fs)
|
rs1233849070
|
0.00002
|
NM_001034853.2(RPGR):c.32C>T (p.Ser11Leu)
|
rs143975950
|
0.00002
|
NM_001034853.2(RPGR):c.470-19C>T
|
rs752337687
|
0.00002
|
NM_001034853.2(RPGR):c.603T>C (p.His201=)
|
rs765580620
|
0.00002
|
NM_001034853.2(RPGR):c.827T>G (p.Leu276Arg)
|
rs771616566
|
0.00002
|
NM_000328.3(RPGR):c.1909C>G (p.His637Asp)
|
rs1386160264
|
0.00001
|
NM_000328.3(RPGR):c.2304G>A (p.Pro768=)
|
rs781426804
|
0.00001
|
NM_000328.3(RPGR):c.2337C>G (p.Ile779Met)
|
rs1342166642
|
0.00001
|
NM_001034853.2(RPGR):c.1059+9A>G
|
rs781086486
|
0.00001
|
NM_001034853.2(RPGR):c.106G>T (p.Val36Phe)
|
rs62638628
|
0.00001
|
NM_001034853.2(RPGR):c.1200T>C (p.Asn400=)
|
rs768625051
|
0.00001
|
NM_001034853.2(RPGR):c.1348T>C (p.Cys450Arg)
|
rs794727019
|
0.00001
|
NM_001034853.2(RPGR):c.1437C>G (p.Thr479=)
|
rs1048927882
|
0.00001
|
NM_001034853.2(RPGR):c.1506+6G>C
|
rs1464455035
|
0.00001
|
NM_001034853.2(RPGR):c.1524G>A (p.Leu508=)
|
rs1044418804
|
0.00001
|
NM_001034853.2(RPGR):c.1575A>G (p.Lys525=)
|
rs761895475
|
0.00001
|
NM_001034853.2(RPGR):c.1590G>A (p.Gly530=)
|
rs375288851
|
0.00001
|
NM_001034853.2(RPGR):c.1624G>A (p.Asp542Asn)
|
rs1159969109
|
0.00001
|
NM_001034853.2(RPGR):c.1754-9G>A
|
rs762495217
|
0.00001
|
NM_001034853.2(RPGR):c.1763A>G (p.Glu588Gly)
|
rs1222240619
|
0.00001
|
NM_001034853.2(RPGR):c.1777G>A (p.Ala593Thr)
|
rs1490761121
|
0.00001
|
NM_001034853.2(RPGR):c.2041_2042del (p.Lys681fs)
|
rs1569237670
|
0.00001
|
NM_001034853.2(RPGR):c.2135A>G (p.Gln712Arg)
|
rs749852225
|
0.00001
|
NM_001034853.2(RPGR):c.2417A>G (p.Glu806Gly)
|
rs1364555173
|
0.00001
|
NM_001034853.2(RPGR):c.247+8A>G
|
rs1290611493
|
0.00001
|
NM_001034853.2(RPGR):c.248-7T>C
|
rs772049733
|
0.00001
|
NM_001034853.2(RPGR):c.248-8A>G
|
rs775563204
|
0.00001
|
NM_001034853.2(RPGR):c.3151G>A (p.Glu1051Lys)
|
rs1235791633
|
0.00001
|
NM_001034853.2(RPGR):c.619+8A>G
|
rs1230328335
|
0.00001
|
NM_001034853.2(RPGR):c.620-16A>G
|
rs1235442896
|
0.00001
|
NM_001034853.2(RPGR):c.649C>T (p.Pro217Ser)
|
rs1411541161
|
0.00001
|
NM_001034853.2(RPGR):c.746C>T (p.Ala249Val)
|
rs1251721610
|
0.00001
|
NM_001034853.2(RPGR):c.778+5G>A
|
rs62640583
|
0.00001
|
NM_001034853.2(RPGR):c.82G>A (p.Gly28Ser)
|
rs779957555
|
0.00001
|
NM_001034853.2(RPGR):c.858C>T (p.Pro286=)
|
rs1387222365
|
0.00001
|
NM_001034853.2(RPGR):c.968G>A (p.Arg323His)
|
rs2067497181
|
0.00001
|
NM_001034853.2(RPGR):c.969C>T (p.Arg323=)
|
rs1308025811
|
0.00001
|
GRCh37/hg19 Xp11.4(chrX:38144822-38164037)
|
|
|
GRCh38/hg38 Xp11.4(chrX:38269073-38287133)x0
|
|
|
GRCh38/hg38 Xp11.4(chrX:38297187-38299239)x0
|
|
|
GRCh38/hg38 Xp11.4(chrX:38301150-38301469)x0
|
|
|
NC_000023.10:g.(?_38132619)_(38164063_?)del
|
|
|
NC_000023.10:g.(?_38146328)_(38150297_?)del
|
|
|
NC_000023.10:g.(?_38150626)_(38150757_?)del
|
|
|
NC_000023.10:g.(?_38160137)_(38160644_?)del
|
|
|
NC_000023.10:g.(?_38169848)_(38182797_?)dup
|
|
|
NC_000023.10:g.(?_38182086)_(38182797_?)del
|
|
|
NC_000023.10:g.(?_38186573)_(38186620_?)del
|
|
|
NC_000023.11:g.(?_38269606)_(38269852_?)dup
|
|
|
NC_000023.11:g.(?_38269606)_(38310793_?)dup
|
|
|
NG_009553.1:g.(46900_53331)_53439del
|
|
|
NM_000328.2(RPGR):c.*477_*497dup
|
rs281865320
|
|
NM_000328.2(RPGR):c.*624_*635del
|
rs281865321
|
|
NM_000328.2(RPGR):c.*638_*649del
|
rs281865322
|
|
NM_000328.2(RPGR):c.*644del
|
rs1601890980
|
|
NM_000328.2(RPGR):c.*874_*875insA
|
rs281865323
|
|
NM_000328.2(RPGR):c.-168-?_*456+?dup
|
|
|
NM_000328.3(RPGR):c.*158_*172del
|
rs281865317
|
|
NM_000328.3(RPGR):c.*177A>G
|
|
|
NM_000328.3(RPGR):c.*177dup
|
rs281865318
|
|
NM_000328.3(RPGR):c.*194A>G
|
|
|
NM_000328.3(RPGR):c.*207A>G
|
|
|
NM_000328.3(RPGR):c.*372_*392dup
|
rs281865319
|
|
NM_000328.3(RPGR):c.*62_*68del
|
rs11279874
|
|
NM_000328.3(RPGR):c.*76del
|
rs281865315
|
|
NM_000328.3(RPGR):c.*94_*114del
|
rs281865316
|
|
NM_000328.3(RPGR):c.1906-12A>G
|
|
|
NM_000328.3(RPGR):c.1906-2A>G
|
|
|
NM_000328.3(RPGR):c.1906-8del
|
|
|
NM_000328.3(RPGR):c.1949T>C (p.Val650Ala)
|
|
|
NM_000328.3(RPGR):c.1996G>C (p.Val666Leu)
|
rs2147169038
|
|
NM_000328.3(RPGR):c.1997_1998del (p.Val666fs)
|
|
|
NM_000328.3(RPGR):c.1999G>A (p.Gly667Arg)
|
|
|
NM_000328.3(RPGR):c.2009A>G (p.Glu670Gly)
|
|
|
NM_000328.3(RPGR):c.2012G>A (p.Ser671Asn)
|
|
|
NM_000328.3(RPGR):c.2023G>A (p.Gly675Ser)
|
|
|
NM_000328.3(RPGR):c.2052A>G (p.Glu684=)
|
|
|
NM_000328.3(RPGR):c.2055A>G (p.Arg685=)
|
rs281865306
|
|
NM_000328.3(RPGR):c.2057C>T (p.Thr686Ile)
|
|
|
NM_000328.3(RPGR):c.2066A>T (p.Asp689Val)
|
rs2147168869
|
|
NM_000328.3(RPGR):c.2072C>T (p.Ser691Leu)
|
|
|
NM_000328.3(RPGR):c.2074G>C (p.Ala692Pro)
|
|
|
NM_000328.3(RPGR):c.2076T>A (p.Ala692=)
|
|
|
NM_000328.3(RPGR):c.2080A>T (p.Thr694Ser)
|
rs281865307
|
|
NM_000328.3(RPGR):c.2087A>G (p.Glu696Gly)
|
|
|
NM_000328.3(RPGR):c.2091+114ACATGAAT[3]
|
rs59767997
|
|
NM_000328.3(RPGR):c.2091+13A>G
|
|
|
NM_000328.3(RPGR):c.2091+7T>C
|
|
|
NM_000328.3(RPGR):c.2101G>A (p.Ala701Thr)
|
|
|
NM_000328.3(RPGR):c.2102C>T (p.Ala701Val)
|
|
|
NM_000328.3(RPGR):c.2116C>T (p.Arg706Trp)
|
|
|
NM_000328.3(RPGR):c.2117G>A (p.Arg706Gln)
|
|
|
NM_000328.3(RPGR):c.2120C>T (p.Ala707Val)
|
|
|
NM_000328.3(RPGR):c.2135A>G (p.Asn712Ser)
|
|
|
NM_000328.3(RPGR):c.2146A>G (p.Lys716Glu)
|
rs771791722
|
|
NM_000328.3(RPGR):c.2149+12T>C
|
|
|
NM_000328.3(RPGR):c.2149+19A>G
|
|
|
NM_000328.3(RPGR):c.2149+4T>G
|
rs945212131
|
|
NM_000328.3(RPGR):c.2150-10C>T
|
|
|
NM_000328.3(RPGR):c.2150-266T>A
|
rs4827345
|
|
NM_000328.3(RPGR):c.2150-7A>G
|
|
|
NM_000328.3(RPGR):c.2151A>T (p.Gly717=)
|
|
|
NM_000328.3(RPGR):c.2154C>T (p.Tyr718=)
|
|
|
NM_000328.3(RPGR):c.2156T>G (p.Met719Arg)
|
rs1399519309
|
|
NM_000328.3(RPGR):c.2172T>C (p.Asp724=)
|
|
|
NM_000328.3(RPGR):c.2224A>G (p.Met742Val)
|
|
|
NM_000328.3(RPGR):c.2226G>A (p.Met742Ile)
|
rs281865308
|
|
NM_000328.3(RPGR):c.2241+10A>G
|
|
|
NM_000328.3(RPGR):c.2241+11_2241+12delinsCC
|
|
|
NM_000328.3(RPGR):c.2241+17_2241+18del
|
|
|
NM_000328.3(RPGR):c.2241+5G>A
|
|
|
NM_000328.3(RPGR):c.2241G>A (p.Lys747=)
|
|
|
NM_000328.3(RPGR):c.2242-6dup
|
|
|
NM_000328.3(RPGR):c.2242A>G (p.Ile748Val)
|
|
|
NM_000328.3(RPGR):c.2246T>C (p.Phe749Ser)
|
|
|
NM_000328.3(RPGR):c.2257_2260del (p.Arg753fs)
|
rs1601892395
|
|
NM_000328.3(RPGR):c.2259A>G (p.Arg753=)
|
|
|
NM_000328.3(RPGR):c.2259A>T (p.Arg753Ser)
|
rs281865309
|
|
NM_000328.3(RPGR):c.2260G>T (p.Val754Phe)
|
rs281865310
|
|
NM_000328.3(RPGR):c.2265C>T (p.Pro755=)
|
|
|
NM_000328.3(RPGR):c.2267C>T (p.Ser756Leu)
|
rs766828733
|
|
NM_000328.3(RPGR):c.2286C>G (p.Val762=)
|
|
|
NM_000328.3(RPGR):c.2297A>G (p.Asn766Ser)
|
|
|
NM_000328.3(RPGR):c.2303C>T (p.Pro768Leu)
|
|
|
NM_000328.3(RPGR):c.2311del (p.Glu771fs)
|
rs281865311
|
|
NM_000328.3(RPGR):c.2325A>C (p.Ile775=)
|
|
|
NM_000328.3(RPGR):c.2332C>A (p.Gln778Lys)
|
rs1555958965
|
|
NM_000328.3(RPGR):c.2336T>C (p.Ile779Thr)
|
|
|
NM_000328.3(RPGR):c.2339T>C (p.Ile780Thr)
|
|
|
NM_000328.3(RPGR):c.2339T>G (p.Ile780Ser)
|
|
|
NM_000328.3(RPGR):c.2355T>C (p.Asn785=)
|
|
|
NM_000328.3(RPGR):c.2357_2358del (p.Lys786fs)
|
rs281865312
|
|
NM_000328.3(RPGR):c.2357_2375del (p.Lys786fs)
|
rs281865313
|
|
NM_000328.3(RPGR):c.2366A>T (p.Asp789Val)
|
|
|
NM_000328.3(RPGR):c.2394G>A (p.Gln798=)
|
|
|
NM_000328.3(RPGR):c.2405_2406del (p.Pro802fs)
|
rs1601891967
|
|
NM_000328.3(RPGR):c.2426_2427del (p.Arg808_Ser809insTer)
|
rs1601891936
|
|
NM_000328.3(RPGR):c.2439A>G (p.Thr813=)
|
|
|
NM_000328.3(RPGR):c.2442A>T (p.Ile814=)
|
|
|
NM_000328.3(RPGR):c.2447_*13del (p.Ter816Xaa)
|
rs281865314
|
|
NM_001034853.2(RPGR):c.*125del
|
rs35637775
|
|
NM_001034853.2(RPGR):c.1001T>C (p.Phe334Ser)
|
|
|
NM_001034853.2(RPGR):c.1007A>G (p.Asn336Ser)
|
|
|
NM_001034853.2(RPGR):c.1015A>G (p.Ile339Val)
|
|
|
NM_001034853.2(RPGR):c.1015dup (p.Ile339fs)
|
|
|
NM_001034853.2(RPGR):c.1019C>A (p.Pro340His)
|
|
|
NM_001034853.2(RPGR):c.101_102insC (p.Asn34_Asp35insTer)
|
|
|
NM_001034853.2(RPGR):c.101del (p.Asn34fs)
|
rs281865295
|
|
NM_001034853.2(RPGR):c.1032T>C (p.Ser344=)
|
|
|
NM_001034853.2(RPGR):c.1040del (p.Phe346_Leu347insTer)
|
|
|
NM_001034853.2(RPGR):c.1040dup (p.Leu347fs)
|
rs2147238438
|
|
NM_001034853.2(RPGR):c.1048A>G (p.Ile350Val)
|
|
|
NM_001034853.2(RPGR):c.1052T>A (p.Val351Asp)
|
|
|
NM_001034853.2(RPGR):c.1054_1058del (p.Lys352fs)
|
rs1555965081
|
|
NM_001034853.2(RPGR):c.1059+13C>T
|
|
|
NM_001034853.2(RPGR):c.1059+17del
|
|
|
NM_001034853.2(RPGR):c.1059+1del
|
rs2147238385
|
|
NM_001034853.2(RPGR):c.1060-2A>G
|
rs2067453631
|
|
NM_001034853.2(RPGR):c.1062dup (p.Ala355fs)
|
|
|
NM_001034853.2(RPGR):c.1065T>C (p.Ala355=)
|
|
|
NM_001034853.2(RPGR):c.1066T>C (p.Cys356Arg)
|
rs794726978
|
|
NM_001034853.2(RPGR):c.1068T>A (p.Cys356Ter)
|
|
|
NM_001034853.2(RPGR):c.1077T>A (p.Cys359Ter)
|
|
|
NM_001034853.2(RPGR):c.107T>C (p.Val36Ala)
|
|
|
NM_001034853.2(RPGR):c.1080C>T (p.His360=)
|
|
|
NM_001034853.2(RPGR):c.1084G>A (p.Val362Ile)
|
rs866718135
|
|
NM_001034853.2(RPGR):c.1084_1087dup (p.Val363fs)
|
rs527236109
|
|
NM_001034853.2(RPGR):c.1086_1107dup (p.Gly370fs)
|
|
|
NM_001034853.2(RPGR):c.1089T>G (p.Val363=)
|
|
|
NM_001034853.2(RPGR):c.1092dup (p.Ala365fs)
|
rs281865301
|
|
NM_001034853.2(RPGR):c.1095T>G (p.Ala365=)
|
|
|
NM_001034853.2(RPGR):c.1097CTC[1] (p.Pro367del)
|
rs1357261084
|
|
NM_001034853.2(RPGR):c.1099C>T (p.Pro367Ser)
|
|
|
NM_001034853.2(RPGR):c.109C>T (p.Pro37Ser)
|
|
|
NM_001034853.2(RPGR):c.1100del (p.Pro367fs)
|
rs62635000
|
|
NM_001034853.2(RPGR):c.1105C>G (p.Arg369Gly)
|
|
|
NM_001034853.2(RPGR):c.1105C>T (p.Arg369Cys)
|
rs768571911
|
|
NM_001034853.2(RPGR):c.1106G>A (p.Arg369His)
|
|
|
NM_001034853.2(RPGR):c.110_122del (p.Pro37fs)
|
|
|
NM_001034853.2(RPGR):c.1117_1119dup (p.Lys373_Glu374insLys)
|
|
|
NM_001034853.2(RPGR):c.1120G>T (p.Glu374Ter)
|
rs62635001
|
|
NM_001034853.2(RPGR):c.1123A>G (p.Ile375Val)
|
|
|
NM_001034853.2(RPGR):c.1125T>G (p.Ile375Met)
|
|
|
NM_001034853.2(RPGR):c.1126G>T (p.Glu376Ter)
|
rs2067451355
|
|
NM_001034853.2(RPGR):c.1129T>C (p.Phe377Leu)
|
|
|
NM_001034853.2(RPGR):c.1132G>A (p.Asp378Asn)
|
rs866428513
|
|
NM_001034853.2(RPGR):c.1135G>T (p.Glu379Ter)
|
|
|
NM_001034853.2(RPGR):c.1147A>T (p.Thr383Ser)
|
|
|
NM_001034853.2(RPGR):c.1149T>A (p.Thr383=)
|
|
|
NM_001034853.2(RPGR):c.114dup (p.His39fs)
|
rs2147291671
|
|
NM_001034853.2(RPGR):c.1159del (p.Val387fs)
|
|
|
NM_001034853.2(RPGR):c.1169_1170del (p.Phe390fs)
|
|
|
NM_001034853.2(RPGR):c.1170del (p.Leu391fs)
|
rs2067449854
|
|
NM_001034853.2(RPGR):c.1175C>T (p.Pro392Leu)
|
|
|
NM_001034853.2(RPGR):c.1176G>A (p.Pro392=)
|
|
|
NM_001034853.2(RPGR):c.1179T>G (p.Tyr393Ter)
|
rs1601943462
|
|
NM_001034853.2(RPGR):c.1187dup (p.Leu396fs)
|
rs1555964576
|
|
NM_001034853.2(RPGR):c.1191C>T (p.Thr397=)
|
|
|
NM_001034853.2(RPGR):c.1197A>G (p.Gly399=)
|
|
|
NM_001034853.2(RPGR):c.119_122del (p.Leu40fs)
|
|
|
NM_001034853.2(RPGR):c.1201G>A (p.Val401Ile)
|
|
|
NM_001034853.2(RPGR):c.1201G>T (p.Val401Leu)
|
|
|
NM_001034853.2(RPGR):c.1204C>T (p.Leu402=)
|
|
|
NM_001034853.2(RPGR):c.1206_1215del (p.Gln403fs)
|
|
|
NM_001034853.2(RPGR):c.1208A>G (p.Gln403Arg)
|
|
|
NM_001034853.2(RPGR):c.1216_1217del (p.Leu406fs)
|
rs2067448565
|
|
NM_001034853.2(RPGR):c.1217_1218insTT (p.Ser407fs)
|
|
|
NM_001034853.2(RPGR):c.1217dup (p.Ser407fs)
|
rs1601943325
|
|
NM_001034853.2(RPGR):c.1220C>A (p.Ser407Ter)
|
rs772201779
|
|
NM_001034853.2(RPGR):c.1220C>T (p.Ser407Leu)
|
|
|
NM_001034853.2(RPGR):c.1225del (p.Arg409fs)
|
|
|
NM_001034853.2(RPGR):c.1226G>A (p.Arg409His)
|
|
|
NM_001034853.2(RPGR):c.122C>A (p.Ser41Ter)
|
rs2067985937
|
|
NM_001034853.2(RPGR):c.1233G>T (p.Arg411=)
|
|
|
NM_001034853.2(RPGR):c.1234C>T (p.Arg412Ter)
|
rs1601943268
|
|
NM_001034853.2(RPGR):c.1235G>A (p.Arg412Gln)
|
|
|
NM_001034853.2(RPGR):c.1236_1239del (p.Glu414fs)
|
rs1601943227
|
|
NM_001034853.2(RPGR):c.1237A>T (p.Arg413Ter)
|
rs771039023
|
|
NM_001034853.2(RPGR):c.1238G>A (p.Arg413Lys)
|
|
|
NM_001034853.2(RPGR):c.1243_1244del (p.Arg415fs)
|
rs281865302
|
|
NM_001034853.2(RPGR):c.1243_1244dup (p.Glu416fs)
|
rs281865302
|
|
NM_001034853.2(RPGR):c.1245+1G>A
|
rs2147232242
|
|
NM_001034853.2(RPGR):c.1245+1G>T
|
|
|
NM_001034853.2(RPGR):c.1245+3A>G
|
rs62635002
|
|
NM_001034853.2(RPGR):c.1245+7T>C
|
|
|
NM_001034853.2(RPGR):c.1245G>A (p.Arg415=)
|
|
|
NM_001034853.2(RPGR):c.1246-10T>C
|
|
|
NM_001034853.2(RPGR):c.1246-17A>G
|
|
|
NM_001034853.2(RPGR):c.1246-2A>C
|
rs2067410562
|
|
NM_001034853.2(RPGR):c.1246-3A>G
|
|
|
NM_001034853.2(RPGR):c.1251G>A (p.Arg417=)
|
|
|
NM_001034853.2(RPGR):c.1251del (p.Arg417fs)
|
|
|
NM_001034853.2(RPGR):c.1254T>C (p.Ser418=)
|
|
|
NM_001034853.2(RPGR):c.1256C>A (p.Pro419Gln)
|
|
|
NM_001034853.2(RPGR):c.125G>A (p.Cys42Tyr)
|
|
|
NM_001034853.2(RPGR):c.125G>T (p.Cys42Phe)
|
|
|
NM_001034853.2(RPGR):c.1261_1279del (p.Ser421fs)
|
rs281865303
|
|
NM_001034853.2(RPGR):c.126T>G (p.Cys42Trp)
|
rs1555968526
|
|
NM_001034853.2(RPGR):c.1273A>G (p.Arg425Gly)
|
|
|
NM_001034853.2(RPGR):c.127G>A (p.Gly43Arg)
|
rs62638629
|
|
NM_001034853.2(RPGR):c.1281A>G (p.Thr427=)
|
|
|
NM_001034853.2(RPGR):c.1281_1282del (p.Leu428fs)
|
rs2067408614
|
|
NM_001034853.2(RPGR):c.1282C>G (p.Leu428Val)
|
|
|
NM_001034853.2(RPGR):c.1286C>T (p.Pro429Leu)
|
rs2067408372
|
|
NM_001034853.2(RPGR):c.128G>A (p.Gly43Glu)
|
rs62638630
|
|
NM_001034853.2(RPGR):c.128dup (p.Asp44fs)
|
rs2067985696
|
|
NM_001034853.2(RPGR):c.1302dup (p.Leu435fs)
|
|
|
NM_001034853.2(RPGR):c.1304_1305del (p.Leu435fs)
|
|
|
NM_001034853.2(RPGR):c.1307G>A (p.Gly436Asp)
|
rs62635004
|
|
NM_001034853.2(RPGR):c.1315del (p.Ala439fs)
|
|
|
NM_001034853.2(RPGR):c.1320T>C (p.Cys440=)
|
|
|
NM_001034853.2(RPGR):c.1329C>G (p.Pro443=)
|
rs2147227730
|
|
NM_001034853.2(RPGR):c.1331A>G (p.Asn444Ser)
|
rs756926974
|
|
NM_001034853.2(RPGR):c.1334C>G (p.Ser445Ter)
|
rs1601940608
|
|
NM_001034853.2(RPGR):c.133G>T (p.Glu45Ter)
|
rs1555968524
|
|
NM_001034853.2(RPGR):c.1345C>T (p.Arg449Ter)
|
rs2067406342
|
|
NM_001034853.2(RPGR):c.1346G>A (p.Arg449Gln)
|
|
|
NM_001034853.2(RPGR):c.134A>T (p.Glu45Val)
|
rs2147291597
|
|
NM_001034853.2(RPGR):c.1366C>T (p.Gln456Ter)
|
rs1060501181
|
|
NM_001034853.2(RPGR):c.1372_1373del (p.Ser458fs)
|
rs1555964133
|
|
NM_001034853.2(RPGR):c.1374dup (p.Val459fs)
|
|
|
NM_001034853.2(RPGR):c.1375_1376del (p.Val459fs)
|
rs2067404808
|
|
NM_001034853.2(RPGR):c.1377_1378del (p.Leu460fs)
|
rs62653029
|
|
NM_001034853.2(RPGR):c.1379del (p.Leu460fs)
|
rs2147227522
|
|
NM_001034853.2(RPGR):c.1381T>C (p.Ser461Pro)
|
|
|
NM_001034853.2(RPGR):c.1387C>T (p.Gln463Ter)
|
rs886044302
|
|
NM_001034853.2(RPGR):c.1393C>G (p.Leu465Val)
|
|
|
NM_001034853.2(RPGR):c.1393del (p.Leu465fs)
|
rs1555964122
|
|
NM_001034853.2(RPGR):c.1396A>G (p.Met466Val)
|
|
|
NM_001034853.2(RPGR):c.1398G>A (p.Met466Ile)
|
rs1237734243
|
|
NM_001034853.2(RPGR):c.139dup (p.Ser47fs)
|
|
|
NM_001034853.2(RPGR):c.1402_1405del (p.Pro468fs)
|
rs62653030
|
|
NM_001034853.2(RPGR):c.1414+1155G>A
|
|
|
NM_001034853.2(RPGR):c.1414+1170G>A
|
|
|
NM_001034853.2(RPGR):c.1414+1269T>C
|
|
|
NM_001034853.2(RPGR):c.1414+13A>G
|
|
|
NM_001034853.2(RPGR):c.1414+1428A>G
|
|
|
NM_001034853.2(RPGR):c.1414+1450C>G
|
|
|
NM_001034853.2(RPGR):c.1414+18G>C
|
|
|
NM_001034853.2(RPGR):c.1414+19_1414+22del
|
|
|
NM_001034853.2(RPGR):c.1414+1G>A
|
|
|
NM_001034853.2(RPGR):c.1414+1G>C
|
|
|
NM_001034853.2(RPGR):c.1414+9T>C
|
|
|
NM_001034853.2(RPGR):c.1415-17C>G
|
|
|
NM_001034853.2(RPGR):c.1415-3C>G
|
|
|
NM_001034853.2(RPGR):c.1415-7C>A
|
|
|
NM_001034853.2(RPGR):c.1415-9A>G
|
rs2067278631
|
|
NM_001034853.2(RPGR):c.1415-9A>T
|
|
|
NM_001034853.2(RPGR):c.1429G>T (p.Glu477Ter)
|
rs1555962965
|
|
NM_001034853.2(RPGR):c.1443A>C (p.Glu481Asp)
|
|
|
NM_001034853.2(RPGR):c.1445C>T (p.Ala482Val)
|
|
|
NM_001034853.2(RPGR):c.1449G>A (p.Glu483=)
|
|
|
NM_001034853.2(RPGR):c.1477del (p.Gly494fs)
|
rs62635005
|
|
NM_001034853.2(RPGR):c.1478T>A (p.Leu493His)
|
rs62635006
|
|
NM_001034853.2(RPGR):c.1481G>T (p.Gly494Val)
|
rs2147212880
|
|
NM_001034853.2(RPGR):c.1484A>G (p.Glu495Gly)
|
|
|
NM_001034853.2(RPGR):c.1486A>C (p.Thr496Pro)
|
|
|
NM_001034853.2(RPGR):c.1490C>T (p.Thr497Ile)
|
rs2067277205
|
|
NM_001034853.2(RPGR):c.1491del (p.Asp498fs)
|
rs2067277129
|
|
NM_001034853.2(RPGR):c.1493A>G (p.Asp498Gly)
|
|
|
NM_001034853.2(RPGR):c.1496T>C (p.Ile499Thr)
|
|
|
NM_001034853.2(RPGR):c.1497C>A (p.Ile499=)
|
|
|
NM_001034853.2(RPGR):c.1500A>C (p.Leu500Phe)
|
|
|
NM_001034853.2(RPGR):c.1505T>C (p.Met502Thr)
|
|
|
NM_001034853.2(RPGR):c.1505dup (p.Met502fs)
|
|
|
NM_001034853.2(RPGR):c.1506+16_1506+19del
|
|
|
NM_001034853.2(RPGR):c.1506+3A>G
|
rs2147212763
|
|
NM_001034853.2(RPGR):c.1506+4del
|
rs2067276668
|
|
NM_001034853.2(RPGR):c.1507-103_1507-100del
|
rs10567683
|
|
NM_001034853.2(RPGR):c.1507-123TA[10]
|
rs1168785516
|
|
NM_001034853.2(RPGR):c.1507-12del
|
rs759448363
|
|
NM_001034853.2(RPGR):c.1507-17T>A
|
|
|
NM_001034853.2(RPGR):c.1507-68T>C
|
rs62643066
|
|
NM_001034853.2(RPGR):c.1507-9T>C
|
|
|
NM_001034853.2(RPGR):c.1512_1513del (p.Ile505fs)
|
rs281865304
|
|
NM_001034853.2(RPGR):c.1519A>G (p.Ser507Gly)
|
|
|
NM_001034853.2(RPGR):c.1519del (p.Ser507fs)
|
|
|
NM_001034853.2(RPGR):c.151A>G (p.Thr51Ala)
|
|
|
NM_001034853.2(RPGR):c.1532A>T (p.Asn511Ile)
|
|
|
NM_001034853.2(RPGR):c.1534G>T (p.Glu512Ter)
|
|
|
NM_001034853.2(RPGR):c.1538del (p.Lys513fs)
|
rs2067267431
|
|
NM_001034853.2(RPGR):c.154+11C>A
|
|
|
NM_001034853.2(RPGR):c.154+13A>G
|
|
|
NM_001034853.2(RPGR):c.154+1G>A
|
rs2067985165
|
|
NM_001034853.2(RPGR):c.154+43A>G
|
|
|
NM_001034853.2(RPGR):c.154+5G>A
|
|
|
NM_001034853.2(RPGR):c.1541C>G (p.Ser514Ter)
|
rs2147211363
|
|
NM_001034853.2(RPGR):c.1548del (p.Lys516fs)
|
|
|
NM_001034853.2(RPGR):c.154G>A (p.Gly52Arg)
|
rs281865296
|
|
NM_001034853.2(RPGR):c.154G>T (p.Gly52Ter)
|
rs281865296
|
|
NM_001034853.2(RPGR):c.155-13del
|
rs886038282
|
|
NM_001034853.2(RPGR):c.155-1G>A
|
rs1601982595
|
|
NM_001034853.2(RPGR):c.155-2A>G
|
rs62638632
|
|
NM_001034853.2(RPGR):c.1558G>A (p.Val520Ile)
|
|
|
NM_001034853.2(RPGR):c.1561C>T (p.Gln521Ter)
|
|
|
NM_001034853.2(RPGR):c.1567C>T (p.Gln523Ter)
|
|
|
NM_001034853.2(RPGR):c.1572+18A>G
|
|
|
NM_001034853.2(RPGR):c.1572+1G>A
|
rs1601931052
|
|
NM_001034853.2(RPGR):c.1572+1del
|
rs878853373
|
|
NM_001034853.2(RPGR):c.1572+3A>T
|
rs1555962831
|
|
NM_001034853.2(RPGR):c.1572+6del
|
|
|
NM_001034853.2(RPGR):c.1573-12A>G
|
rs2067221066
|
|
NM_001034853.2(RPGR):c.1573-17C>T
|
|
|
NM_001034853.2(RPGR):c.1573-18_1573-15del
|
|
|
NM_001034853.2(RPGR):c.1573-1G>A
|
rs62635010
|
|
NM_001034853.2(RPGR):c.1573-2A>G
|
rs62635009
|
|
NM_001034853.2(RPGR):c.1573-2del
|
|
|
NM_001034853.2(RPGR):c.1573-3C>G
|
rs1601926845
|
|
NM_001034853.2(RPGR):c.1573-8A>G
|
rs62635011
|
|
NM_001034853.2(RPGR):c.1575_1578del (p.Lys525fs)
|
rs281865305
|
|
NM_001034853.2(RPGR):c.1576CAA[1] (p.Gln527del)
|
rs62653033
|
|
NM_001034853.2(RPGR):c.1579C>T (p.Gln527Ter)
|
|
|
NM_001034853.2(RPGR):c.1582_1585del (p.Thr528fs)
|
rs2147203790
|
|
NM_001034853.2(RPGR):c.1585A>C (p.Ile529Leu)
|
|
|
NM_001034853.2(RPGR):c.1585A>G (p.Ile529Val)
|
|
|
NM_001034853.2(RPGR):c.1586T>A (p.Ile529Asn)
|
|
|
NM_001034853.2(RPGR):c.1587del (p.Ile529fs)
|
|
|
NM_001034853.2(RPGR):c.158A>G (p.Asn53Ser)
|
|
|
NM_001034853.2(RPGR):c.1591G>T (p.Glu531Ter)
|
|
|
NM_001034853.2(RPGR):c.1594C>T (p.Leu532=)
|
|
|
NM_001034853.2(RPGR):c.1595T>G (p.Leu532Arg)
|
rs2147203710
|
|
NM_001034853.2(RPGR):c.1597A>G (p.Thr533Ala)
|
|
|
NM_001034853.2(RPGR):c.1599G>A (p.Thr533=)
|
|
|
NM_001034853.2(RPGR):c.159_160insTAA (p.Asn54Ter)
|
|
|
NM_001034853.2(RPGR):c.1600C>G (p.Gln534Glu)
|
|
|
NM_001034853.2(RPGR):c.1600C>T (p.Gln534Ter)
|
|
|
NM_001034853.2(RPGR):c.1606dup (p.Thr536fs)
|
|
|
NM_001034853.2(RPGR):c.1607C>T (p.Thr536Ile)
|
|
|
NM_001034853.2(RPGR):c.1612C>G (p.Leu538Val)
|
|
|
NM_001034853.2(RPGR):c.1616C>T (p.Thr539Ile)
|
|
|
NM_001034853.2(RPGR):c.1617del (p.Glu540fs)
|
|
|
NM_001034853.2(RPGR):c.1640A>T (p.Tyr547Phe)
|
|
|
NM_001034853.2(RPGR):c.1642G>T (p.Glu548Ter)
|
|
|
NM_001034853.2(RPGR):c.1649del (p.Met550fs)
|
|
|
NM_001034853.2(RPGR):c.1650G>A (p.Met550Ile)
|
|
|
NM_001034853.2(RPGR):c.1651_1659del (p.Ser551_Met553del)
|
|
|
NM_001034853.2(RPGR):c.1651dup (p.Ser551fs)
|
|
|
NM_001034853.2(RPGR):c.1653A>G (p.Ser551=)
|
|
|
NM_001034853.2(RPGR):c.1657A>G (p.Met553Val)
|
|
|
NM_001034853.2(RPGR):c.1663G>T (p.Glu555Ter)
|
rs2067218363
|
|
NM_001034853.2(RPGR):c.1671del (p.Ala558fs)
|
rs1569238659
|
|
NM_001034853.2(RPGR):c.1677T>A (p.Cys559Ter)
|
rs2067217874
|
|
NM_001034853.2(RPGR):c.1680ACA[1] (p.Gln561del)
|
rs1208778002
|
|
NM_001034853.2(RPGR):c.1685_1686del (p.His562fs)
|
rs2067217662
|
|
NM_001034853.2(RPGR):c.1686T>G (p.His562Gln)
|
|
|
NM_001034853.2(RPGR):c.168_169del (p.Tyr57fs)
|
rs2067976665
|
|
NM_001034853.2(RPGR):c.1691dup (p.Gln565fs)
|
rs2067217398
|
|
NM_001034853.2(RPGR):c.1693C>G (p.Gln565Glu)
|
|
|
NM_001034853.2(RPGR):c.1693C>T (p.Gln565Ter)
|
|
|
NM_001034853.2(RPGR):c.1707G>T (p.Met569Ile)
|
|
|
NM_001034853.2(RPGR):c.1711C>T (p.Gln571Ter)
|
rs2067216516
|
|
NM_001034853.2(RPGR):c.1720A>T (p.Thr574Ser)
|
|
|
NM_001034853.2(RPGR):c.1721_1722insAT (p.Thr574_Thr575insTer)
|
|
|
NM_001034853.2(RPGR):c.1722G>A (p.Thr574=)
|
|
|
NM_001034853.2(RPGR):c.1724_1725insGCATGAAGCAT (p.Ile576fs)
|
|
|
NM_001034853.2(RPGR):c.1726A>G (p.Ile576Val)
|
|
|
NM_001034853.2(RPGR):c.1726A>T (p.Ile576Phe)
|
|
|
NM_001034853.2(RPGR):c.1728C>A (p.Ile576=)
|
|
|
NM_001034853.2(RPGR):c.1728_1729insATGACGCAT (p.Ile576_Glu577insMetThrHis)
|
|
|
NM_001034853.2(RPGR):c.1728_1735del (p.Glu577fs)
|
|
|
NM_001034853.2(RPGR):c.1731dup (p.Ala578fs)
|
rs1601926125
|
|
NM_001034853.2(RPGR):c.1734A>G (p.Ala578=)
|
|
|
NM_001034853.2(RPGR):c.173T>A (p.Met58Lys)
|
rs2067976284
|
|
NM_001034853.2(RPGR):c.1746G>A (p.Glu582=)
|
|
|
NM_001034853.2(RPGR):c.1747G>T (p.Glu583Ter)
|
rs62635013
|
|
NM_001034853.2(RPGR):c.1749A>G (p.Glu583=)
|
rs1060501179
|
|
NM_001034853.2(RPGR):c.1753+2T>G
|
|
|
NM_001034853.2(RPGR):c.1753G>A (p.Glu585Lys)
|
rs2067215010
|
|
NM_001034853.2(RPGR):c.1754-104dup
|
|
|
NM_001034853.2(RPGR):c.1754-10C>T
|
|
|
NM_001034853.2(RPGR):c.1754-13G>C
|
|
|
NM_001034853.2(RPGR):c.1754-15_1754-5del
|
rs2067203546
|
|
NM_001034853.2(RPGR):c.1754-214_1801del
|
|
|
NM_001034853.2(RPGR):c.1754-2dup
|
rs2067203496
|
|
NM_001034853.2(RPGR):c.1754-3C>G
|
rs2147201026
|
|
NM_001034853.2(RPGR):c.1754-7T>G
|
|
|
NM_001034853.2(RPGR):c.1762GAG[1] (p.Glu589del)
|
|
|
NM_001034853.2(RPGR):c.1768A>G (p.Lys590Glu)
|
|
|
NM_001034853.2(RPGR):c.1784A>T (p.Asp595Val)
|
|
|
NM_001034853.2(RPGR):c.1787C>A (p.Ser596Ter)
|
rs2067202860
|
|
NM_001034853.2(RPGR):c.178G>A (p.Gly60Ser)
|
rs2147290553
|
|
NM_001034853.2(RPGR):c.1796dup (p.Asn599fs)
|
rs2147200895
|
|
NM_001034853.2(RPGR):c.179G>T (p.Gly60Val)
|
rs62638634
|
|
NM_001034853.2(RPGR):c.1803A>G (p.Ile601Met)
|
|
|
NM_001034853.2(RPGR):c.1807_1819dup (p.Glu607fs)
|
|
|
NM_001034853.2(RPGR):c.1807del (p.Glu603fs)
|
|
|
NM_001034853.2(RPGR):c.1810C>T (p.Gln604Ter)
|
|
|
NM_001034853.2(RPGR):c.1813G>T (p.Glu605Ter)
|
|
|
NM_001034853.2(RPGR):c.1819_1820dup (p.Ala608fs)
|
|
|
NM_001034853.2(RPGR):c.1826A>G (p.Asn609Ser)
|
rs1555961989
|
|
NM_001034853.2(RPGR):c.1835dup (p.Asn612fs)
|
rs62635014
|
|
NM_001034853.2(RPGR):c.1836del (p.Asn612fs)
|
rs2067201253
|
|
NM_001034853.2(RPGR):c.183dup (p.Asn62Ter)
|
rs2067976030
|
|
NM_001034853.2(RPGR):c.1840_1843dup (p.Val615fs)
|
rs2067201139
|
|
NM_001034853.2(RPGR):c.1841A>C (p.Lys614Thr)
|
|
|
NM_001034853.2(RPGR):c.1843del (p.Val615fs)
|
|
|
NM_001034853.2(RPGR):c.1859A>G (p.Lys620Arg)
|
|
|
NM_001034853.2(RPGR):c.1872_1873del (p.Glu624fs)
|
rs2067200470
|
|
NM_001034853.2(RPGR):c.1875C>A (p.Ile625=)
|
|
|
NM_001034853.2(RPGR):c.1880C>A (p.Ser627Ter)
|
rs2147200625
|
|
NM_001034853.2(RPGR):c.1880C>G (p.Ser627Ter)
|
|
|
NM_001034853.2(RPGR):c.1881dup (p.Asp628fs)
|
|
|
NM_001034853.2(RPGR):c.1894_1897del (p.Asp632fs)
|
rs1555961964
|
|
NM_001034853.2(RPGR):c.189del (p.Trp64fs)
|
|
|
NM_001034853.2(RPGR):c.1906G>A (p.Val636Met)
|
|
|
NM_001034853.2(RPGR):c.1918A>G (p.Lys640Glu)
|
|
|
NM_001034853.2(RPGR):c.1919del (p.Lys640fs)
|
|
|
NM_001034853.2(RPGR):c.1921G>C (p.Ala641Pro)
|
|
|
NM_001034853.2(RPGR):c.1926dup (p.Ser643fs)
|
rs2067199347
|
|
NM_001034853.2(RPGR):c.1928C>G (p.Ser643Ter)
|
rs869312185
|
|
NM_001034853.2(RPGR):c.1932_1933insC (p.Gly645fs)
|
rs2147200451
|
|
NM_001034853.2(RPGR):c.1938_1939insAGAGG (p.Ala647fs)
|
|
|
NM_001034853.2(RPGR):c.193G>C (p.Gly65Arg)
|
rs2067975926
|
|
NM_001034853.2(RPGR):c.193G>T (p.Gly65Cys)
|
|
|
NM_001034853.2(RPGR):c.1946A>G (p.Asp649Gly)
|
|
|
NM_001034853.2(RPGR):c.1946A>T (p.Asp649Val)
|
|
|
NM_001034853.2(RPGR):c.1948G>A (p.Gly650Arg)
|
|
|
NM_001034853.2(RPGR):c.194G>A (p.Gly65Asp)
|
rs1601982532
|
|
NM_001034853.2(RPGR):c.1952dup (p.Pro651_Glu652insTer)
|
|
|
NM_001034853.2(RPGR):c.1954G>A (p.Glu652Lys)
|
rs2147200398
|
|
NM_001034853.2(RPGR):c.1956del (p.Gly653fs)
|
|
|
NM_001034853.2(RPGR):c.1957G>A (p.Gly653Ser)
|
|
|
NM_001034853.2(RPGR):c.1966dup (p.Asp656fs)
|
rs2067198376
|
|
NM_001034853.2(RPGR):c.196C>T (p.Gln66Ter)
|
rs2147290510
|
|
NM_001034853.2(RPGR):c.1974C>T (p.Thr658=)
|
|
|
NM_001034853.2(RPGR):c.197A>G (p.Gln66Arg)
|
|
|
NM_001034853.2(RPGR):c.197A>T (p.Gln66Leu)
|
|
|
NM_001034853.2(RPGR):c.1981G>T (p.Glu661Ter)
|
rs527236108
|
|
NM_001034853.2(RPGR):c.1983A>C (p.Glu661Asp)
|
|
|
NM_001034853.2(RPGR):c.1983_1995del (p.Gly662fs)
|
|
|
NM_001034853.2(RPGR):c.1987A>G (p.Ser663Gly)
|
|
|
NM_001034853.2(RPGR):c.198G>C (p.Gln66His)
|
rs2067975683
|
|
NM_001034853.2(RPGR):c.2002del (p.His668fs)
|
|
|
NM_001034853.2(RPGR):c.2006G>A (p.Trp669Ter)
|
rs2067196800
|
|
NM_001034853.2(RPGR):c.2007G>A (p.Trp669Ter)
|
|
|
NM_001034853.2(RPGR):c.2008_2017del (p.Gln670fs)
|
rs2067196699
|
|
NM_001034853.2(RPGR):c.200TAGGAT[1] (p.67LG[1])
|
rs2067975228
|
|
NM_001034853.2(RPGR):c.2016G>A (p.Glu672=)
|
|
|
NM_001034853.2(RPGR):c.2023G>T (p.Glu675Ter)
|
rs1601924184
|
|
NM_001034853.2(RPGR):c.2027_2078dup (p.Glu693_Lys694insGlyGlyGluArgGlnGlyTer)
|
rs2067193857
|
|
NM_001034853.2(RPGR):c.202G>A (p.Gly68Arg)
|
|
|
NM_001034853.2(RPGR):c.202G>C (p.Gly68Arg)
|
rs1601982516
|
|
NM_001034853.2(RPGR):c.2032_2034delinsAA (p.Glu678fs)
|
rs2067196140
|
|
NM_001034853.2(RPGR):c.2038_2056del (p.Asp680fs)
|
rs1601924111
|
|
NM_001034853.2(RPGR):c.2039A>G (p.Asp680Gly)
|
|
|
NM_001034853.2(RPGR):c.203G>A (p.Gly68Glu)
|
|
|
NM_001034853.2(RPGR):c.203G>T (p.Gly68Val)
|
rs2067975335
|
|
NM_001034853.2(RPGR):c.2043G>A (p.Lys681=)
|
|
|
NM_001034853.2(RPGR):c.2048dup (p.Gly684fs)
|
|
|
NM_001034853.2(RPGR):c.2053G>C (p.Glu685Gln)
|
|
|
NM_001034853.2(RPGR):c.2055A>G (p.Glu685=)
|
|
|
NM_001034853.2(RPGR):c.2056A>G (p.Met686Val)
|
|
|
NM_001034853.2(RPGR):c.2059G>T (p.Glu687Ter)
|
rs2067194648
|
|
NM_001034853.2(RPGR):c.2059dup (p.Glu687fs)
|
rs2067194747
|
|
NM_001034853.2(RPGR):c.2064del (p.Arg688fs)
|
|
|
NM_001034853.2(RPGR):c.2067A>T (p.Pro689=)
|
|
|
NM_001034853.2(RPGR):c.2070del (p.Glu691fs)
|
rs1601924055
|
|
NM_001034853.2(RPGR):c.2071G>T (p.Glu691Ter)
|
rs2147199844
|
|
NM_001034853.2(RPGR):c.2073_2080dup (p.Lys694fs)
|
|
|
NM_001034853.2(RPGR):c.2078_2148dup (p.Gln717delinsArgArgAsnTer)
|
rs2147199457
|
|
NM_001034853.2(RPGR):c.2083G>T (p.Glu695Ter)
|
rs2067193671
|
|
NM_001034853.2(RPGR):c.2083del (p.Glu695fs)
|
|
|
NM_001034853.2(RPGR):c.2086C>G (p.Leu696Val)
|
|
|
NM_001034853.2(RPGR):c.2094G>T (p.Glu698Asp)
|
|
|
NM_001034853.2(RPGR):c.2098_2101del (p.Glu700fs)
|
rs2067193155
|
|
NM_001034853.2(RPGR):c.2099_2138dup (p.Glu714fs)
|
|
|
NM_001034853.2(RPGR):c.2105_2213dup (p.Glu742fs)
|
|
|
NM_001034853.2(RPGR):c.2106G>A (p.Trp702Ter)
|
rs2067193056
|
|
NM_001034853.2(RPGR):c.2118_2190dup (p.Gly731fs)
|
rs2067190364
|
|
NM_001034853.2(RPGR):c.2123A>G (p.Glu708Gly)
|
rs2067192032
|
|
NM_001034853.2(RPGR):c.2125G>T (p.Glu709Ter)
|
rs1305342570
|
|
NM_001034853.2(RPGR):c.2138del (p.Lys713fs)
|
rs2067191635
|
|
NM_001034853.2(RPGR):c.2140G>T (p.Glu714Ter)
|
rs2147199519
|
|
NM_001034853.2(RPGR):c.2140del (p.Glu714fs)
|
|
|
NM_001034853.2(RPGR):c.2143_2144del (p.Arg715fs)
|
rs2067191541
|
|
NM_001034853.2(RPGR):c.2146G>T (p.Glu716Ter)
|
rs2067191335
|
|
NM_001034853.2(RPGR):c.2149C>T (p.Gln717Ter)
|
|
|
NM_001034853.2(RPGR):c.2153del (p.Gly718fs)
|
|
|
NM_001034853.2(RPGR):c.2158C>T (p.Gln720Ter)
|
rs2067191154
|
|
NM_001034853.2(RPGR):c.2159_2162del (p.Gln720fs)
|
|
|
NM_001034853.2(RPGR):c.2167A>T (p.Arg723Ter)
|
|
|
NM_001034853.2(RPGR):c.2167del (p.Arg723fs)
|
rs2067190976
|
|
NM_001034853.2(RPGR):c.2168_2171del (p.Arg723fs)
|
rs2067190922
|
|
NM_001034853.2(RPGR):c.2173C>T (p.Gln725Ter)
|
rs907856232
|
|
NM_001034853.2(RPGR):c.2180T>A (p.Met727Lys)
|
|
|
NM_001034853.2(RPGR):c.2184G>A (p.Glu728=)
|
|
|
NM_001034853.2(RPGR):c.2185G>T (p.Glu729Ter)
|
rs1601923813
|
|
NM_001034853.2(RPGR):c.2188_2189dup (p.Gly731fs)
|
|
|
NM_001034853.2(RPGR):c.2192G>C (p.Gly731Ala)
|
|
|
NM_001034853.2(RPGR):c.2194del (p.Glu732fs)
|
|
|
NM_001034853.2(RPGR):c.2195del (p.Glu732fs)
|
|
|
NM_001034853.2(RPGR):c.219del (p.Ala74fs)
|
rs1601982474
|
|
NM_001034853.2(RPGR):c.2203C>T (p.His735Tyr)
|
|
|
NM_001034853.2(RPGR):c.2203_2226del (p.His735_Glu742del)
|
rs768423834
|
|
NM_001034853.2(RPGR):c.2212G>T (p.Gly738Ter)
|
|
|
NM_001034853.2(RPGR):c.2215G>A (p.Glu739Lys)
|
|
|
NM_001034853.2(RPGR):c.2215G>T (p.Glu739Ter)
|
|
|
NM_001034853.2(RPGR):c.2218G>T (p.Glu740Ter)
|
rs983693027
|
|
NM_001034853.2(RPGR):c.2219_2223del (p.Glu740fs)
|
|
|
NM_001034853.2(RPGR):c.2220A>G (p.Glu740=)
|
|
|
NM_001034853.2(RPGR):c.2221G>T (p.Glu741Ter)
|
|
|
NM_001034853.2(RPGR):c.2221_2224del (p.Glu741fs)
|
rs1601923578
|
|
NM_001034853.2(RPGR):c.2222AGG[1] (p.Glu742del)
|
|
|
NM_001034853.2(RPGR):c.2229dup (p.Asp744fs)
|
|
|
NM_001034853.2(RPGR):c.2232_2235del (p.Asp744fs)
|
|
|
NM_001034853.2(RPGR):c.2234_2237del (p.Arg745fs)
|
rs1555961852
|
|
NM_001034853.2(RPGR):c.2236_2237del (p.Glu746fs)
|
rs1555961852
|
|
NM_001034853.2(RPGR):c.2237_2238del (p.Glu746fs)
|
rs2147199015
|
|
NM_001034853.2(RPGR):c.2240_2253del (p.Glu747fs)
|
|
|
NM_001034853.2(RPGR):c.2245del (p.Glu749fs)
|
|
|
NM_001034853.2(RPGR):c.2246_2253del (p.Glu749fs)
|
|
|
NM_001034853.2(RPGR):c.2248G>T (p.Glu750Ter)
|
|
|
NM_001034853.2(RPGR):c.2249_2253del (p.Glu750fs)
|
rs2067188031
|
|
NM_001034853.2(RPGR):c.2250_2251del (p.Lys751fs)
|
rs1555961849
|
|
NM_001034853.2(RPGR):c.2251A>T (p.Lys751Ter)
|
rs2067188111
|
|
NM_001034853.2(RPGR):c.2252_2255del (p.Lys751fs)
|
rs1475590979
|
|
NM_001034853.2(RPGR):c.2254del (p.Glu752fs)
|
rs1060499897
|
|
NM_001034853.2(RPGR):c.2257G>T (p.Gly753Ter)
|
rs267606453
|
|
NM_001034853.2(RPGR):c.2257_2260del (p.Gly753fs)
|
rs2067187618
|
|
NM_001034853.2(RPGR):c.2260G>T (p.Glu754Ter)
|
rs2067187550
|
|
NM_001034853.2(RPGR):c.2268del (p.Glu757fs)
|
|
|
NM_001034853.2(RPGR):c.2270_2271del (p.Glu757fs)
|
|
|
NM_001034853.2(RPGR):c.2272G>T (p.Glu758Ter)
|
rs1601923388
|
|
NM_001034853.2(RPGR):c.2274_2277del (p.Gly759fs)
|
|
|
NM_001034853.2(RPGR):c.2278G>T (p.Glu760Ter)
|
|
|
NM_001034853.2(RPGR):c.2283_2284del (p.Glu762fs)
|
rs2067187127
|
|
NM_001034853.2(RPGR):c.2284del (p.Glu762fs)
|
|
|
NM_001034853.2(RPGR):c.2291_2293del (p.Val764del)
|
|
|
NM_001034853.2(RPGR):c.2293G>T (p.Glu765Ter)
|
rs2147198765
|
|
NM_001034853.2(RPGR):c.2293_2297del (p.Glu765fs)
|
rs2067186762
|
|
NM_001034853.2(RPGR):c.2293_2305del (p.Glu765fs)
|
|
|
NM_001034853.2(RPGR):c.2296_2299del (p.Gly766fs)
|
rs2067186632
|
|
NM_001034853.2(RPGR):c.2302C>T (p.Arg768Cys)
|
|
|
NM_001034853.2(RPGR):c.2303G>A (p.Arg768His)
|
|
|
NM_001034853.2(RPGR):c.2310GGA[1] (p.Glu772del)
|
|
|
NM_001034853.2(RPGR):c.2311_2314del (p.Glu771fs)
|
|
|
NM_001034853.2(RPGR):c.2316del (p.Gly773fs)
|
|
|
NM_001034853.2(RPGR):c.2320G>T (p.Glu774Ter)
|
|
|
NM_001034853.2(RPGR):c.2321_2330del (p.Glu774fs)
|
|
|
NM_001034853.2(RPGR):c.2321_2348del (p.Glu774fs)
|
rs2067185063
|
|
NM_001034853.2(RPGR):c.2323_2324del (p.Arg775fs)
|
rs1555961832
|
|
NM_001034853.2(RPGR):c.2327A>G (p.Lys776Arg)
|
|
|
NM_001034853.2(RPGR):c.2327_2354del (p.Lys776fs)
|
rs2067184831
|
|
NM_001034853.2(RPGR):c.2330del (p.Lys777fs)
|
rs2147198604
|
|
NM_001034853.2(RPGR):c.2331G>A (p.Lys777=)
|
|
|
NM_001034853.2(RPGR):c.2331GGA[1] (p.Glu779del)
|
rs201730068
|
|
NM_001034853.2(RPGR):c.2333del (p.Glu778fs)
|
|
|
NM_001034853.2(RPGR):c.2336_2337insTC (p.Glu779fs)
|
|
|
NM_001034853.2(RPGR):c.2336_2345dup (p.Glu784fs)
|
|
|
NM_001034853.2(RPGR):c.2340_2341del (p.Arg780fs)
|
rs2067185505
|
|
NM_001034853.2(RPGR):c.2340del (p.Ala781fs)
|
rs2067185564
|
|
NM_001034853.2(RPGR):c.2342C>T (p.Ala781Val)
|
|
|
NM_001034853.2(RPGR):c.2343G>A (p.Ala781=)
|
|
|
NM_001034853.2(RPGR):c.2346del (p.Lys783fs)
|
rs1064797365
|
|
NM_001034853.2(RPGR):c.2350_2368del (p.Glu784fs)
|
|
|
NM_001034853.2(RPGR):c.2357_2375del (p.Lys786fs)
|
|
|
NM_001034853.2(RPGR):c.2360_2362del (p.Gly787del)
|
rs1287687440
|
|
NM_001034853.2(RPGR):c.2360del (p.Gly787fs)
|
|
|
NM_001034853.2(RPGR):c.2362_2366del (p.Glu788fs)
|
rs2067184362
|
|
NM_001034853.2(RPGR):c.2366AAG[1] (p.Glu790del)
|
|
|
NM_001034853.2(RPGR):c.2377C>T (p.Gln793Ter)
|
rs2067184023
|
|
NM_001034853.2(RPGR):c.2378A>G (p.Gln793Arg)
|
|
|
NM_001034853.2(RPGR):c.237_238del (p.Val81fs)
|
rs62650215
|
|
NM_001034853.2(RPGR):c.2383G>T (p.Glu795Ter)
|
rs2067183876
|
|
NM_001034853.2(RPGR):c.2384_2385del (p.Glu795fs)
|
|
|
NM_001034853.2(RPGR):c.2384del (p.Glu795fs)
|
rs1569237206
|
|
NM_001034853.2(RPGR):c.2385G>C (p.Glu795Asp)
|
|
|
NM_001034853.2(RPGR):c.2389_2409del (p.Glu797_Gly803del)
|
|
|
NM_001034853.2(RPGR):c.2390_2408del (p.Glu797fs)
|
|
|
NM_001034853.2(RPGR):c.2399A>G (p.Glu800Gly)
|
|
|
NM_001034853.2(RPGR):c.2403_2406del (p.Glu802fs)
|
rs2067183162
|
|
NM_001034853.2(RPGR):c.2405_2406del (p.Glu802fs)
|
rs398122960
|
|
NM_001034853.2(RPGR):c.2407G>A (p.Gly803Arg)
|
|
|
NM_001034853.2(RPGR):c.2408G>A (p.Gly803Glu)
|
|
|
NM_001034853.2(RPGR):c.2409_2479dup (p.Glu827delinsGlyGluGlyArgLysLysArgArgGluGlyLysTer)
|
|
|
NM_001034853.2(RPGR):c.2409del (p.Arg804fs)
|
rs2067182990
|
|
NM_001034853.2(RPGR):c.2410A>T (p.Arg804Ter)
|
rs1601922877
|
|
NM_001034853.2(RPGR):c.2412_2413del (p.Glu806fs)
|
rs2067182636
|
|
NM_001034853.2(RPGR):c.2412_2418del (p.Gly805fs)
|
|
|
NM_001034853.2(RPGR):c.2415G>C (p.Gly805=)
|
|
|
NM_001034853.2(RPGR):c.2416G>T (p.Glu806Ter)
|
rs1555961787
|
|
NM_001034853.2(RPGR):c.2419G>T (p.Glu807Ter)
|
rs2067182354
|
|
NM_001034853.2(RPGR):c.2420_2435del (p.Glu807fs)
|
rs2147197891
|
|
NM_001034853.2(RPGR):c.2423_2424del (p.Lys808fs)
|
|
|
NM_001034853.2(RPGR):c.2424_2427del (p.Glu809fs)
|
|
|
NM_001034853.2(RPGR):c.2424del (p.Glu809fs)
|
|
|
NM_001034853.2(RPGR):c.2424dup (p.Glu809fs)
|
|
|
NM_001034853.2(RPGR):c.2425G>C (p.Glu809Gln)
|
|
|
NM_001034853.2(RPGR):c.2425G>T (p.Glu809Ter)
|
rs1168146969
|
|
NM_001034853.2(RPGR):c.2426A>T (p.Glu809Val)
|
|
|
NM_001034853.2(RPGR):c.2426AGG[1] (p.Glu810del)
|
rs745480662
|
|
NM_001034853.2(RPGR):c.2426_2427del (p.Glu809fs)
|
rs730882261
|
|
NM_001034853.2(RPGR):c.2427G>A (p.Glu809=)
|
|
|
NM_001034853.2(RPGR):c.2432GAGGGGAAGTAGAGG[1] (p.811GGEVE[1])
|
rs777850798
|
|
NM_001034853.2(RPGR):c.2432GAGGGGAAGTAGAGG[3] (p.Glu820_Glu821insGlyGlyGluValGlu)
|
|
|
NM_001034853.2(RPGR):c.2433_2436del (p.Gly812fs)
|
|
|
NM_001034853.2(RPGR):c.2433del (p.Glu813fs)
|
|
|
NM_001034853.2(RPGR):c.2437G>T (p.Glu813Ter)
|
|
|
NM_001034853.2(RPGR):c.2440_2468del (p.Val814fs)
|
|
|
NM_001034853.2(RPGR):c.2442A>G (p.Val814=)
|
|
|
NM_001034853.2(RPGR):c.2442_2445del (p.Gly817fs)
|
rs1569237077
|
|
NM_001034853.2(RPGR):c.2447del (p.Gly816fs)
|
rs1854473658
|
|
NM_001034853.2(RPGR):c.2449G>A (p.Gly817Arg)
|
|
|
NM_001034853.2(RPGR):c.2451G>A (p.Gly817=)
|
|
|
NM_001034853.2(RPGR):c.2452G>T (p.Glu818Ter)
|
rs2147197770
|
|
NM_001034853.2(RPGR):c.2454del (p.Glu818_Val819insTer)
|
|
|
NM_001034853.2(RPGR):c.2455_2468del (p.Val819fs)
|
|
|
NM_001034853.2(RPGR):c.2455_2468dup (p.Lys823_Gly824insTer)
|
rs2147197604
|
|
NM_001034853.2(RPGR):c.2457_2460del (p.Glu820fs)
|
rs2067180395
|
|
NM_001034853.2(RPGR):c.2457dup (p.Glu820fs)
|
|
|
NM_001034853.2(RPGR):c.2461G>T (p.Glu821Ter)
|
rs2067180233
|
|
NM_001034853.2(RPGR):c.2464G>A (p.Gly822Arg)
|
|
|
NM_001034853.2(RPGR):c.2465G>A (p.Gly822Glu)
|
|
|
NM_001034853.2(RPGR):c.2469del (p.Gly824fs)
|
|
|
NM_001034853.2(RPGR):c.246dup (p.Ala83fs)
|
|
|
NM_001034853.2(RPGR):c.247+1G>A
|
|
|
NM_001034853.2(RPGR):c.247+2T>C
|
|
|
NM_001034853.2(RPGR):c.247+5G>A
|
rs2067974156
|
|
NM_001034853.2(RPGR):c.247+5G>T
|
|
|
NM_001034853.2(RPGR):c.2470G>T (p.Gly824Ter)
|
rs2147197584
|
|
NM_001034853.2(RPGR):c.2470_2471del (p.Gly824fs)
|
rs2067179881
|
|
NM_001034853.2(RPGR):c.2471del (p.Gly824fs)
|
|
|
NM_001034853.2(RPGR):c.2474_2475insT (p.Glu825fs)
|
rs2147197552
|
|
NM_001034853.2(RPGR):c.2476_2477del (p.Arg826fs)
|
rs2067179633
|
|
NM_001034853.2(RPGR):c.2479G>T (p.Glu827Ter)
|
rs2067179538
|
|
NM_001034853.2(RPGR):c.247G>A (p.Ala83Thr)
|
rs2067974263
|
|
NM_001034853.2(RPGR):c.247G>T (p.Ala83Ser)
|
|
|
NM_001034853.2(RPGR):c.248-10A>G
|
|
|
NM_001034853.2(RPGR):c.248-15T>C
|
|
|
NM_001034853.2(RPGR):c.248-1G>A
|
|
|
NM_001034853.2(RPGR):c.248-1G>T
|
|
|
NM_001034853.2(RPGR):c.248-20C>T
|
|
|
NM_001034853.2(RPGR):c.248-28_248-10del
|
rs1569260656
|
|
NM_001034853.2(RPGR):c.248-2A>G
|
rs62638633
|
|
NM_001034853.2(RPGR):c.248-6T>A
|
rs62638635
|
|
NM_001034853.2(RPGR):c.248-7T>G
|
|
|
NM_001034853.2(RPGR):c.2480_2520dup (p.Glu841fs)
|
rs2147197209
|
|
NM_001034853.2(RPGR):c.2481AGAGGA[1] (p.Glu831_Glu832del)
|
|
|
NM_001034853.2(RPGR):c.2482G>T (p.Glu828Ter)
|
|
|
NM_001034853.2(RPGR):c.2485G>T (p.Glu829Ter)
|
|
|
NM_001034853.2(RPGR):c.2487_2520delinsGGAGGAGGGT (p.Glu832_Glu839del)
|
|
|
NM_001034853.2(RPGR):c.2488G>T (p.Glu830Ter)
|
rs1601922510
|
|
NM_001034853.2(RPGR):c.2489AGG[2] (p.Glu832del)
|
|
|
NM_001034853.2(RPGR):c.2491G>T (p.Glu831Ter)
|
rs865977487
|
|
NM_001034853.2(RPGR):c.2494del (p.Glu832fs)
|
|
|
NM_001034853.2(RPGR):c.2495_2520delinsGT (p.Glu832_Glu839del)
|
|
|
NM_001034853.2(RPGR):c.2496G>A (p.Glu832=)
|
|
|
NM_001034853.2(RPGR):c.2496_2516del (p.829EEEEGEG[3])
|
|
|
NM_001034853.2(RPGR):c.2501_2502del (p.Glu834fs)
|
|
|
NM_001034853.2(RPGR):c.2501_2522del (p.Glu834fs)
|
rs2067176160
|
|
NM_001034853.2(RPGR):c.2501del (p.Glu834fs)
|
rs2067178120
|
|
NM_001034853.2(RPGR):c.2505_2506del (p.Glu836fs)
|
rs1569236971
|
|
NM_001034853.2(RPGR):c.2506del (p.Glu836fs)
|
|
|
NM_001034853.2(RPGR):c.2506dup (p.Glu836fs)
|
rs1569236971
|
|
NM_001034853.2(RPGR):c.2509G>T (p.Glu837Ter)
|
rs2067177281
|
|
NM_001034853.2(RPGR):c.2511G>A (p.Glu837=)
|
|
|
NM_001034853.2(RPGR):c.2511GGA[1] (p.Glu839del)
|
|
|
NM_001034853.2(RPGR):c.2512del (p.Glu838fs)
|
rs2147197281
|
|
NM_001034853.2(RPGR):c.2516_2520del (p.Glu839fs)
|
rs2067176379
|
|
NM_001034853.2(RPGR):c.2517_2518del (p.Glu841fs)
|
rs1373833359
|
|
NM_001034853.2(RPGR):c.2520GGAGGGGGAAGAGGAGGAAGG[1] (p.829EEEEGEG[3])
|
rs751710678
|
|
NM_001034853.2(RPGR):c.2520GGAGGGGGAAGAGGAGGAAGG[3] (p.829EEEEGEG[5])
|
rs751710678
|
|
NM_001034853.2(RPGR):c.2520GGAGGGGGAAGAGGAGGAAGG[4] (p.Gly856_Lys857insGluGluGluGluGlyGluGlyGluGluGluGluGlyGluGly)
|
|
|
NM_001034853.2(RPGR):c.2520_2561del (p.829EEEEGEG[2])
|
|
|
NM_001034853.2(RPGR):c.2522_2525dup (p.Glu843fs)
|
rs2147197113
|
|
NM_001034853.2(RPGR):c.2522_2543del (p.Glu841fs)
|
|
|
NM_001034853.2(RPGR):c.2522del (p.Glu841fs)
|
rs1601922202
|
|
NM_001034853.2(RPGR):c.2525_2578dup (p.Glu859_Glu860insGlyGluGluGluGluGlyGluGlyGluGluGluGluGlyGluGlyLysGlyGlu)
|
|
|
NM_001034853.2(RPGR):c.2526G>A (p.Gly842=)
|
|
|
NM_001034853.2(RPGR):c.2526_2527del (p.Glu843fs)
|
rs2067175855
|
|
NM_001034853.2(RPGR):c.2527G>A (p.Glu843Lys)
|
|
|
NM_001034853.2(RPGR):c.2527G>T (p.Glu843Ter)
|
|
|
NM_001034853.2(RPGR):c.2527del (p.Glu843fs)
|
|
|
NM_001034853.2(RPGR):c.2527dup (p.Glu843fs)
|
rs2067175855
|
|
NM_001034853.2(RPGR):c.2532GGA[1] (p.Glu846del)
|
|
|
NM_001034853.2(RPGR):c.2535_2558del (p.Glu846_Glu853del)
|
rs760332126
|
|
NM_001034853.2(RPGR):c.2536dup (p.Glu846fs)
|
|
|
NM_001034853.2(RPGR):c.2539G>A (p.Gly847Arg)
|
rs1454586504
|
|
NM_001034853.2(RPGR):c.2541G>A (p.Gly847=)
|
rs750364695
|
|
NM_001034853.2(RPGR):c.2541_2542del (p.Glu848fs)
|
|
|
NM_001034853.2(RPGR):c.2547G>A (p.Gly849=)
|
|
|
NM_001034853.2(RPGR):c.2548G>T (p.Glu850Ter)
|
rs1601922074
|
|
NM_001034853.2(RPGR):c.2548del (p.Glu850fs)
|
rs2067174697
|
|
NM_001034853.2(RPGR):c.2556G>A (p.Glu852=)
|
|
|
NM_001034853.2(RPGR):c.2557G>A (p.Glu853Lys)
|
|
|
NM_001034853.2(RPGR):c.255del (p.Lys85fs)
|
rs1555968248
|
|
NM_001034853.2(RPGR):c.2562del (p.Glu855fs)
|
|
|
NM_001034853.2(RPGR):c.2564A>G (p.Glu855Gly)
|
|
|
NM_001034853.2(RPGR):c.2565A>G (p.Glu855=)
|
|
|
NM_001034853.2(RPGR):c.2566G>A (p.Gly856Arg)
|
|
|
NM_001034853.2(RPGR):c.2567_2568del (p.Gly856fs)
|
|
|
NM_001034853.2(RPGR):c.2568dup (p.Lys857fs)
|
rs2067172824
|
|
NM_001034853.2(RPGR):c.2569A>T (p.Lys857Ter)
|
|
|
NM_001034853.2(RPGR):c.2569_2570insG (p.Lys857fs)
|
|
|
NM_001034853.2(RPGR):c.2571_2572del (p.Glu859fs)
|
rs2067172385
|
|
NM_001034853.2(RPGR):c.2571del (p.Glu859fs)
|
rs1555961704
|
|
NM_001034853.2(RPGR):c.2574_2575del (p.Glu859fs)
|
|
|
NM_001034853.2(RPGR):c.2577GGAAGAAGG[1] (p.861EGE[1])
|
|
|
NM_001034853.2(RPGR):c.2580A>G (p.Glu860=)
|
|
|
NM_001034853.2(RPGR):c.2586_2587del (p.Glu863fs)
|
rs2067170858
|
|
NM_001034853.2(RPGR):c.2587G>T (p.Glu863Ter)
|
rs2147196529
|
|
NM_001034853.2(RPGR):c.2587del (p.Glu863fs)
|
rs2067170858
|
|
NM_001034853.2(RPGR):c.2589A>G (p.Glu863=)
|
|
|
NM_001034853.2(RPGR):c.2589_2603del (p.Gly865_Glu869del)
|
|
|
NM_001034853.2(RPGR):c.2589_2615del (p.860EEGEEGEGE[1])
|
|
|
NM_001034853.2(RPGR):c.2590G>T (p.Glu864Ter)
|
|
|
NM_001034853.2(RPGR):c.2594_2596del (p.Gly865del)
|
rs771584745
|
|
NM_001034853.2(RPGR):c.2595_2612del (p.Gly867_Glu872del)
|
|
|
NM_001034853.2(RPGR):c.2597AAGGGGAGGAAG[1] (p.866EGEE[1])
|
|
|
NM_001034853.2(RPGR):c.2598_2599insCGGGAGGAAGAAGGGGAGGAAGGAGAA (p.Glu866_Gly867insArgGluGluGluGlyGluGluGlyGlu)
|
|
|
NM_001034853.2(RPGR):c.259G>T (p.Glu87Ter)
|
rs1601978991
|
|
NM_001034853.2(RPGR):c.2601G>A (p.Gly867=)
|
|
|
NM_001034853.2(RPGR):c.2601_2602del (p.Glu868fs)
|
rs2067169934
|
|
NM_001034853.2(RPGR):c.2605G>T (p.Glu869Ter)
|
rs1555961677
|
|
NM_001034853.2(RPGR):c.2606A>G (p.Glu869Gly)
|
|
|
NM_001034853.2(RPGR):c.2606_2620del (p.Glu869_Glu873del)
|
rs200824587
|
|
NM_001034853.2(RPGR):c.2606_2632dup (p.860EEGEEGEGE[3])
|
rs769216492
|
|
NM_001034853.2(RPGR):c.2608G>T (p.Glu870Ter)
|
rs2067169164
|
|
NM_001034853.2(RPGR):c.2609A>G (p.Glu870Gly)
|
|
|
NM_001034853.2(RPGR):c.2610_2611del (p.Glu872fs)
|
|
|
NM_001034853.2(RPGR):c.2612G>A (p.Gly871Glu)
|
|
|
NM_001034853.2(RPGR):c.2613G>T (p.Gly871=)
|
|
|
NM_001034853.2(RPGR):c.2613_2614del (p.Glu872fs)
|
|
|
NM_001034853.2(RPGR):c.2614G>T (p.Glu872Ter)
|
|
|
NM_001034853.2(RPGR):c.2616G>A (p.Glu872=)
|
|
|
NM_001034853.2(RPGR):c.2617G>T (p.Glu873Ter)
|
|
|
NM_001034853.2(RPGR):c.2618_2632del (p.Glu873_Glu877del)
|
|
|
NM_001034853.2(RPGR):c.2618_2632dup (p.Glu877_Gly878insGluGlyGluGlyGlu)
|
|
|
NM_001034853.2(RPGR):c.2619A>G (p.Glu873=)
|
|
|
NM_001034853.2(RPGR):c.2621_2623del (p.Gly874del)
|
|
|
NM_001034853.2(RPGR):c.2622_3056del (p.Gly876_Glu1020del)
|
rs2067126569
|
|
NM_001034853.2(RPGR):c.2624_2643del (p.Glu875fs)
|
|
|
NM_001034853.2(RPGR):c.2625del (p.Glu877fs)
|
|
|
NM_001034853.2(RPGR):c.2625dup (p.Gly876fs)
|
|
|
NM_001034853.2(RPGR):c.2627_2648dup (p.Glu884fs)
|
rs2067164990
|
|
NM_001034853.2(RPGR):c.2628_2629del (p.Glu877fs)
|
rs2067166789
|
|
NM_001034853.2(RPGR):c.2630del (p.Glu877fs)
|
|
|
NM_001034853.2(RPGR):c.2633G>T (p.Gly878Val)
|
rs1218098015
|
|
NM_001034853.2(RPGR):c.2633_2640delinsAAGAAGGGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAGGGAGAA (p.Gly878_Glu879delinsGluGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGly)
|
|
|
NM_001034853.2(RPGR):c.2634_2684del (p.886EGEEEGEGEGEEEEGEG[1])
|
|
|
NM_001034853.2(RPGR):c.2635del (p.Glu879fs)
|
|
|
NM_001034853.2(RPGR):c.2640GGA[1] (p.Glu882del)
|
|
|
NM_001034853.2(RPGR):c.2641G>T (p.Glu881Ter)
|
rs1569236609
|
|
NM_001034853.2(RPGR):c.2644G>T (p.Glu882Ter)
|
|
|
NM_001034853.2(RPGR):c.2646AGGAGAAGGGGAGGGAGAAGAGGA[1] (p.883GEGEGEEE[1])
|
|
|
NM_001034853.2(RPGR):c.2646AGGAGAAGGGGAGGGAGAAGAGGA[3] (p.883GEGEGEEE[3])
|
rs756520886
|
|
NM_001034853.2(RPGR):c.2647G>T (p.Gly883Ter)
|
rs1555961624
|
|
NM_001034853.2(RPGR):c.264A>G (p.Lys88=)
|
|
|
NM_001034853.2(RPGR):c.264_265del (p.Lys88fs)
|
rs2147285764
|
|
NM_001034853.2(RPGR):c.2650G>T (p.Glu884Ter)
|
rs137852549
|
|
NM_001034853.2(RPGR):c.2653G>A (p.Gly885Arg)
|
|
|
NM_001034853.2(RPGR):c.2655_2656del (p.Glu886fs)
|
rs2067164096
|
|
NM_001034853.2(RPGR):c.2656GAGGGAGAAGAGGAAGGAGAAGGGGAGGGAGAAGAGGAGGAAGGAGAAGGG[1] (p.886EGEEEGEGEGEEEEGEG[1])
|
|
|
NM_001034853.2(RPGR):c.2656GAGGGAGAAGAGGAAGGAGAAGGGGAGGGAGAAGAGGAGGAAGGAGAAGGG[3] (p.Gly919_Lys920insGluGlyGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGly)
|
|
|
NM_001034853.2(RPGR):c.2660G>A (p.Gly887Glu)
|
|
|
NM_001034853.2(RPGR):c.2665G>T (p.Glu889Ter)
|
rs2067163605
|
|
NM_001034853.2(RPGR):c.2666_2671del (p.Glu889_Glu890del)
|
|
|
NM_001034853.2(RPGR):c.2667GGAAGGAGAAGGGGAGGGAGAAGAGGA[1] (p.890EGEGEGEEE[1])
|
|
|
NM_001034853.2(RPGR):c.2667GGAAGGAGAAGGGGAGGGAGAAGAGGA[3] (p.Glu907_Gly908insGluGlyGluGlyGluGlyGluGluGlu)
|
|
|
NM_001034853.2(RPGR):c.2667_2669del (p.Glu890del)
|
rs199663434
|
|
NM_001034853.2(RPGR):c.2678G>T (p.Gly893Val)
|
|
|
NM_001034853.2(RPGR):c.2679_2680del (p.Glu894fs)
|
rs2147195624
|
|
NM_001034853.2(RPGR):c.267G>C (p.Val89=)
|
rs2147285733
|
|
NM_001034853.2(RPGR):c.2680_2757dup (p.Gly919_Lys920insGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGly)
|
|
|
NM_001034853.2(RPGR):c.2682G>A (p.Glu894=)
|
|
|
NM_001034853.2(RPGR):c.2682_2696del (p.Glu897_Glu901del)
|
|
|
NM_001034853.2(RPGR):c.2684G>A (p.Gly895Glu)
|
|
|
NM_001034853.2(RPGR):c.2685A>G (p.Gly895=)
|
|
|
NM_001034853.2(RPGR):c.2686G>A (p.Glu896Lys)
|
|
|
NM_001034853.2(RPGR):c.2689G>T (p.Glu897Ter)
|
rs2067161460
|
|
NM_001034853.2(RPGR):c.2691G>A (p.Glu897=)
|
|
|
NM_001034853.2(RPGR):c.2691GGA[1] (p.Glu899del)
|
rs745428229
|
|
NM_001034853.2(RPGR):c.2692G>T (p.Glu898Ter)
|
|
|
NM_001034853.2(RPGR):c.2693A>G (p.Glu898Gly)
|
|
|
NM_001034853.2(RPGR):c.2695G>T (p.Glu899Ter)
|
rs2067161139
|
|
NM_001034853.2(RPGR):c.2697AGGAGAAGGGGAGGGAGAAGAGGA[1] (p.900GEGEGEEE[1])
|
|
|
NM_001034853.2(RPGR):c.2697AGGAGAAGGGGAGGGAGAAGAGGA[3] (p.900GEGEGEEE[3])
|
rs757402645
|
|
NM_001034853.2(RPGR):c.2706G>A (p.Gly902=)
|
|
|
NM_001034853.2(RPGR):c.2706_2707del (p.Glu903fs)
|
|
|
NM_001034853.2(RPGR):c.2710_2713del (p.Gly904fs)
|
|
|
NM_001034853.2(RPGR):c.2712A>G (p.Gly904=)
|
|
|
NM_001034853.2(RPGR):c.2714_2715del (p.Glu905fs)
|
rs2067160273
|
|
NM_001034853.2(RPGR):c.2716G>T (p.Glu906Ter)
|
|
|
NM_001034853.2(RPGR):c.2720A>G (p.Glu907Gly)
|
|
|
NM_001034853.2(RPGR):c.2725G>T (p.Glu909Ter)
|
|
|
NM_001034853.2(RPGR):c.2725_2757dup (p.Gly919_Lys920insGluGlyGluGlyGluGluGluGluGlyGluGly)
|
|
|
NM_001034853.2(RPGR):c.2729G>T (p.Gly910Val)
|
|
|
NM_001034853.2(RPGR):c.2730_2731del (p.Glu911fs)
|
|
|
NM_001034853.2(RPGR):c.2730_2731dup (p.Glu911fs)
|
|
|
NM_001034853.2(RPGR):c.2731G>T (p.Glu911Ter)
|
rs2067159456
|
|
NM_001034853.2(RPGR):c.2731_2757del (p.Glu911_Gly919del)
|
|
|
NM_001034853.2(RPGR):c.2733_2819dup (p.Glu942_Asp943insGluGluGluGlyGluGlyLysGlyGluGluGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGlu)
|
|
|
NM_001034853.2(RPGR):c.2735del (p.Gly912fs)
|
rs2067159265
|
|
NM_001034853.2(RPGR):c.2742GGA[1] (p.Glu916del)
|
rs751721873
|
|
NM_001034853.2(RPGR):c.2743G>T (p.Glu915Ter)
|
|
|
NM_001034853.2(RPGR):c.2747_2749del (p.Glu916del)
|
|
|
NM_001034853.2(RPGR):c.2750_2752del (p.Gly917del)
|
|
|
NM_001034853.2(RPGR):c.2750del (p.Gly917fs)
|
|
|
NM_001034853.2(RPGR):c.2751A>G (p.Gly917=)
|
|
|
NM_001034853.2(RPGR):c.2752G>T (p.Glu918Ter)
|
|
|
NM_001034853.2(RPGR):c.2761G>C (p.Gly921Arg)
|
rs2067157510
|
|
NM_001034853.2(RPGR):c.2763GGA[2] (p.Glu924del)
|
rs2067156760
|
|
NM_001034853.2(RPGR):c.2763_2764del (p.Glu922fs)
|
rs2067157388
|
|
NM_001034853.2(RPGR):c.2764G>T (p.Glu922Ter)
|
|
|
NM_001034853.2(RPGR):c.2764dup (p.Glu922fs)
|
rs2067157388
|
|
NM_001034853.2(RPGR):c.2767G>A (p.Glu923Lys)
|
|
|
NM_001034853.2(RPGR):c.2772_2773dup (p.Gly925fs)
|
rs1601920599
|
|
NM_001034853.2(RPGR):c.2774_2776del (p.Gly925del)
|
|
|
NM_001034853.2(RPGR):c.2777_2778del (p.Glu926fs)
|
rs1601920532
|
|
NM_001034853.2(RPGR):c.2778_2813dup (p.Glu938_Gly939insGluGlyGluGlyGluGlyGluGluGluGluGlyGlu)
|
|
|
NM_001034853.2(RPGR):c.277G>T (p.Ala93Ser)
|
|
|
NM_001034853.2(RPGR):c.2782G>A (p.Gly928Arg)
|
|
|
NM_001034853.2(RPGR):c.2782G>T (p.Gly928Ter)
|
|
|
NM_001034853.2(RPGR):c.2784_2789del (p.928GE[2])
|
|
|
NM_001034853.2(RPGR):c.2785G>T (p.Glu929Ter)
|
rs1057519236
|
|
NM_001034853.2(RPGR):c.2785dup (p.Glu929fs)
|
rs2067155200
|
|
NM_001034853.2(RPGR):c.2790_2791del (p.Glu931fs)
|
rs1601920423
|
|
NM_001034853.2(RPGR):c.2790_2810del (p.Glu934_Glu940del)
|
|
|
NM_001034853.2(RPGR):c.2791del (p.Glu931fs)
|
|
|
NM_001034853.2(RPGR):c.2792del (p.Glu931fs)
|
|
|
NM_001034853.2(RPGR):c.2797del (p.Glu933fs)
|
rs1346308311
|
|
NM_001034853.2(RPGR):c.28+233A>C
|
rs140026681
|
|
NM_001034853.2(RPGR):c.28+266dup
|
rs1232638719
|
|
NM_001034853.2(RPGR):c.28+280del
|
rs1232638719
|
|
NM_001034853.2(RPGR):c.2802GGA[1] (p.Glu936del)
|
rs1238945219
|
|
NM_001034853.2(RPGR):c.2803G>A (p.Glu935Lys)
|
|
|
NM_001034853.2(RPGR):c.2803G>T (p.Glu935Ter)
|
|
|
NM_001034853.2(RPGR):c.2805_2906del (p.Glu936_Glu969del)
|
|
|
NM_001034853.2(RPGR):c.280T>C (p.Cys94Arg)
|
rs1601978925
|
|
NM_001034853.2(RPGR):c.2810_2812del (p.Gly937del)
|
|
|
NM_001034853.2(RPGR):c.2811_2816del (p.937GE[2])
|
|
|
NM_001034853.2(RPGR):c.2815_2862del (p.Gly939_Glu954del)
|
rs1569236115
|
|
NM_001034853.2(RPGR):c.2817_2818del (p.Glu940fs)
|
rs2147194427
|
|
NM_001034853.2(RPGR):c.2819_2837dup (p.Glu947fs)
|
|
|
NM_001034853.2(RPGR):c.2819_2838dup (p.Glu947fs)
|
rs2067149319
|
|
NM_001034853.2(RPGR):c.2820A>G (p.Glu940=)
|
|
|
NM_001034853.2(RPGR):c.2820AGGGGAGGATGGAGAAGGGGA[3] (p.Glu949_Glu950insAspGlyGluGlyGluGlyGluAspGlyGluGlyGluGlyGlu)
|
|
|
NM_001034853.2(RPGR):c.2820_2821insAGGGAGGATGGAGAAGGGGAA (p.Glu940_Gly941insArgGluAspGlyGluGlyGlu)
|
|
|
NM_001034853.2(RPGR):c.2820_2840del (p.Asp943_Glu949del)
|
|
|
NM_001034853.2(RPGR):c.2820_2840dup (p.Asp943_Glu949dup)
|
rs764268405
|
|
NM_001034853.2(RPGR):c.2821G>T (p.Gly941Trp)
|
rs763102799
|
|
NM_001034853.2(RPGR):c.2824del (p.Glu942fs)
|
rs1601920131
|
|
NM_001034853.2(RPGR):c.2825_2970del (p.Glu942fs)
|
|
|
NM_001034853.2(RPGR):c.2829T>A (p.Asp943Glu)
|
|
|
NM_001034853.2(RPGR):c.2829T>G (p.Asp943Glu)
|
rs201655057
|
|
NM_001034853.2(RPGR):c.282_283del (p.Cys94fs)
|
|
|
NM_001034853.2(RPGR):c.2835_2840dup (p.Glu949_Glu950insGlyGlu)
|
|
|
NM_001034853.2(RPGR):c.2836G>T (p.Gly946Trp)
|
|
|
NM_001034853.2(RPGR):c.2838_2839del (p.Glu947fs)
|
rs1555961509
|
|
NM_001034853.2(RPGR):c.2839del (p.Glu947fs)
|
rs1555961509
|
|
NM_001034853.2(RPGR):c.283G>A (p.Gly95Arg)
|
|
|
NM_001034853.2(RPGR):c.2840_2841insAGGGGAGGATGGAGAAGGGG (p.Glu950fs)
|
|
|
NM_001034853.2(RPGR):c.2840_2841insAGGGGAGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGA (p.Glu949_Glu950insAspGlyGluGlyGluGlyGluGluGluGluGlyGluTrpGluGlyGlu)
|
|
|
NM_001034853.2(RPGR):c.2841G>A (p.Glu947=)
|
|
|
NM_001034853.2(RPGR):c.2841_2863delinsAGGGGAGGATGGAGAAG (p.Glu950_Trp955delinsAspGlyGluGly)
|
|
|
NM_001034853.2(RPGR):c.2845G>A (p.Glu949Lys)
|
|
|
NM_001034853.2(RPGR):c.2845G>T (p.Glu949Ter)
|
|
|
NM_001034853.2(RPGR):c.2845del (p.Glu949fs)
|
rs2067148119
|
|
NM_001034853.2(RPGR):c.2847_2848inv (p.Glu949_Glu950delinsAspTer)
|
|
|
NM_001034853.2(RPGR):c.2847_2852del (p.Glu951_Glu952del)
|
|
|
NM_001034853.2(RPGR):c.2847_2856delinsGGAT (p.Glu950_Glu952delinsAsp)
|
|
|
NM_001034853.2(RPGR):c.2848G>T (p.Glu950Ter)
|
rs1601919915
|
|
NM_001034853.2(RPGR):c.2850GGA[1] (p.Glu952del)
|
|
|
NM_001034853.2(RPGR):c.2851_2854dup (p.Glu952fs)
|
|
|
NM_001034853.2(RPGR):c.2852A>G (p.Glu951Gly)
|
|
|
NM_001034853.2(RPGR):c.2854G>A (p.Glu952Lys)
|
|
|
NM_001034853.2(RPGR):c.2854G>T (p.Glu952Ter)
|
|
|
NM_001034853.2(RPGR):c.2856A>G (p.Glu952=)
|
|
|
NM_001034853.2(RPGR):c.2856A>T (p.Glu952Asp)
|
|
|
NM_001034853.2(RPGR):c.2862dup (p.Trp955fs)
|
|
|
NM_001034853.2(RPGR):c.2863_2866del (p.Trp955fs)
|
|
|
NM_001034853.2(RPGR):c.2863_2889dup (p.Glu963_Gly964insTrpGluGlyGluGluGluGluGlyGlu)
|
|
|
NM_001034853.2(RPGR):c.2864G>A (p.Trp955Ter)
|
rs1555961491
|
|
NM_001034853.2(RPGR):c.2865G>A (p.Trp955Ter)
|
rs2067146202
|
|
NM_001034853.2(RPGR):c.2867del (p.Glu956fs)
|
rs2067146007
|
|
NM_001034853.2(RPGR):c.2871G>A (p.Gly957=)
|
|
|
NM_001034853.2(RPGR):c.2873_2874insGGATGGAGGAAGGAGAAGGGGAAGGGGAGGATGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGA (p.Glu959fs)
|
|
|
NM_001034853.2(RPGR):c.2875_2876insGGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAATGGGAGGGGGAAG (p.944_958GE[3]EEEGEWEGEGEEGEGEGEEEEGEWEGE[1])
|
rs1569236068
|
|
NM_001034853.2(RPGR):c.2876A>G (p.Glu959Gly)
|
|
|
NM_001034853.2(RPGR):c.2877GGA[1] (p.Glu961del)
|
|
|
NM_001034853.2(RPGR):c.2878G>T (p.Glu960Ter)
|
|
|
NM_001034853.2(RPGR):c.287G>A (p.Arg96Lys)
|
rs2147285696
|
|
NM_001034853.2(RPGR):c.2887del (p.Glu963fs)
|
rs1064797364
|
|
NM_001034853.2(RPGR):c.2892_2893del (p.Glu965fs)
|
rs2067144007
|
|
NM_001034853.2(RPGR):c.2893G>T (p.Glu965Ter)
|
rs1420285326
|
|
NM_001034853.2(RPGR):c.2894del (p.Glu965fs)
|
rs2147193654
|
|
NM_001034853.2(RPGR):c.2898_2899del (p.Glu967fs)
|
rs1569235999
|
|
NM_001034853.2(RPGR):c.2899dup (p.Glu967fs)
|
rs1569235999
|
|
NM_001034853.2(RPGR):c.29-17C>A
|
|
|
NM_001034853.2(RPGR):c.29-1G>T
|
rs2067987832
|
|
NM_001034853.2(RPGR):c.29-2A>G
|
rs2147291936
|
|
NM_001034853.2(RPGR):c.29-3C>T
|
|
|
NM_001034853.2(RPGR):c.2901_2903del (p.Glu969del)
|
rs753744103
|
|
NM_001034853.2(RPGR):c.2904G>A (p.Glu968=)
|
|
|
NM_001034853.2(RPGR):c.2904_2906dup (p.Glu969_Gly970insGlu)
|
|
|
NM_001034853.2(RPGR):c.2906_2907insGGAAGGAGAATGGGAGGGGGAAGAGGA (p.Glu969_Gly970insGluGlyGluTrpGluGlyGluGluGlu)
|
|
|
NM_001034853.2(RPGR):c.2909del (p.Gly970fs)
|
rs2147193425
|
|
NM_001034853.2(RPGR):c.2910_2914del (p.Glu971fs)
|
|
|
NM_001034853.2(RPGR):c.2911G>T (p.Glu971Ter)
|
|
|
NM_001034853.2(RPGR):c.2914G>A (p.Gly972Arg)
|
|
|
NM_001034853.2(RPGR):c.2916_2917del (p.Glu973fs)
|
rs2067140574
|
|
NM_001034853.2(RPGR):c.2917G>T (p.Glu973Ter)
|
rs2067140471
|
|
NM_001034853.2(RPGR):c.2919A>G (p.Glu973=)
|
|
|
NM_001034853.2(RPGR):c.2919_2939dup (p.970GEGEGEE[3])
|
rs772859148
|
|
NM_001034853.2(RPGR):c.2921_2947dup (p.Glu982_Glu983insGlyGluGluGlyGluGlyGluGlyGlu)
|
|
|
NM_001034853.2(RPGR):c.2923dup (p.Glu975fs)
|
|
|
NM_001034853.2(RPGR):c.2927_2941del (p.971EGEGE[1])
|
|
|
NM_001034853.2(RPGR):c.2929G>T (p.Gly977Ter)
|
rs137852551
|
|
NM_001034853.2(RPGR):c.2930G>T (p.Gly977Val)
|
rs1234506102
|
|
NM_001034853.2(RPGR):c.2931AGAAGGGGAGGGGGAAGAGGAGGAAGG[1] (p.979GEGEEEEGE[1])
|
|
|
NM_001034853.2(RPGR):c.2933A>G (p.Glu978Gly)
|
|
|
NM_001034853.2(RPGR):c.2935G>T (p.Gly979Trp)
|
|
|
NM_001034853.2(RPGR):c.2937G>C (p.Gly979=)
|
|
|
NM_001034853.2(RPGR):c.2937_2938del (p.Glu980fs)
|
rs2067138439
|
|
NM_001034853.2(RPGR):c.2937_2953del (p.Glu980fs)
|
rs2067136586
|
|
NM_001034853.2(RPGR):c.2938_2959dup (p.Glu987fs)
|
rs2067136009
|
|
NM_001034853.2(RPGR):c.2939_2940insAGGGGAGGAAGAAGGGGA (p.Glu984_Glu985insGlyGluGlyGluGluGlu)
|
|
|
NM_001034853.2(RPGR):c.2939_2940insAGGGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAAGGGGAGGAAGGAGAAGGGGA (p.Glu983_Glu984insGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGlyGluGlyGluGlyGluGlu)
|
|
|
NM_001034853.2(RPGR):c.2939_2940insAGGGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAAGGAGAAGGGGAAGGGGAGGAAGGAGAAGGGGAAGGGGAGGAAGGAGAAGGGGA (p.Glu983_Glu984insGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGlyGluGlyGluGlyGluGluGlyGluGlyGluGlyGluGlu)
|
|
|
NM_001034853.2(RPGR):c.2939del (p.Glu980fs)
|
|
|
NM_001034853.2(RPGR):c.2940G>A (p.Glu980=)
|
|
|
NM_001034853.2(RPGR):c.2943G>C (p.Gly981=)
|
|
|
NM_001034853.2(RPGR):c.2944del (p.Glu982fs)
|
|
|
NM_001034853.2(RPGR):c.2945_2964del (p.Glu982fs)
|
rs2067135227
|
|
NM_001034853.2(RPGR):c.2946A>G (p.Glu982=)
|
|
|
NM_001034853.2(RPGR):c.2946_2951del (p.Glu984_Glu985del)
|
rs767210576
|
|
NM_001034853.2(RPGR):c.2947G>T (p.Glu983Ter)
|
rs1569235803
|
|
NM_001034853.2(RPGR):c.294C>A (p.His98Gln)
|
rs62638636
|
|
NM_001034853.2(RPGR):c.294C>T (p.His98=)
|
|
|
NM_001034853.2(RPGR):c.2953G>T (p.Glu985Ter)
|
|
|
NM_001034853.2(RPGR):c.2956_2957insA (p.Gly986fs)
|
rs1060499896
|
|
NM_001034853.2(RPGR):c.295_296dup (p.Leu100fs)
|
rs62638638
|
|
NM_001034853.2(RPGR):c.2962G>A (p.Gly988Arg)
|
|
|
NM_001034853.2(RPGR):c.2964_2965del (p.Glu989fs)
|
rs1555961440
|
|
NM_001034853.2(RPGR):c.2965G>T (p.Glu989Ter)
|
|
|
NM_001034853.2(RPGR):c.2966del (p.Glu989fs)
|
rs2067134850
|
|
NM_001034853.2(RPGR):c.296C>A (p.Thr99Asn)
|
rs62638637
|
|
NM_001034853.2(RPGR):c.296C>T (p.Thr99Ile)
|
|
|
NM_001034853.2(RPGR):c.2971del (p.Glu991fs)
|
rs2067134254
|
|
NM_001034853.2(RPGR):c.2976G>A (p.Glu992=)
|
|
|
NM_001034853.2(RPGR):c.2976_2990del (p.989EGEEE[1])
|
rs761365864
|
|
NM_001034853.2(RPGR):c.2984_2985insAGAAGGGGAGGGGGAAGAGGAAGGAGAAGGGGAAGGGGAGGAAGGAGAAGGGGAAGGGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAGGAAGGAGAAGGGGAGGGGGAAGAGGAGGAAGG (p.Glu996_Glu997insGlyGluGlyGluGluGluGlyGluGlyGluGlyGluGluGlyGluGlyGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGlu)
|
|
|
NM_001034853.2(RPGR):c.2986G>A (p.Glu996Lys)
|
|
|
NM_001034853.2(RPGR):c.2987AAG[2] (p.Glu998del)
|
rs1356107537
|
|
NM_001034853.2(RPGR):c.2988A>G (p.Glu996=)
|
|
|
NM_001034853.2(RPGR):c.2988_2999dup (p.Glu1004_Gly1005insGluGluGlyGlu)
|
|
|
NM_001034853.2(RPGR):c.2992G>T (p.Glu998Ter)
|
|
|
NM_001034853.2(RPGR):c.2993_2996del (p.Glu998fs)
|
rs1569235677
|
|
NM_001034853.2(RPGR):c.2993_2997del (p.Glu998fs)
|
|
|
NM_001034853.2(RPGR):c.2994del (p.Glu1000fs)
|
|
|
NM_001034853.2(RPGR):c.2997_2998del (p.Glu1000fs)
|
|
|
NM_001034853.2(RPGR):c.2997_3008del (p.993EEGE[2])
|
|
|
NM_001034853.2(RPGR):c.299T>C (p.Leu100Pro)
|
rs1064797366
|
|
NM_001034853.2(RPGR):c.3002AAG[1] (p.Glu1002del)
|
|
|
NM_001034853.2(RPGR):c.3007_3008del (p.Gly1003fs)
|
|
|
NM_001034853.2(RPGR):c.3007_3010del (p.Gly1003fs)
|
|
|
NM_001034853.2(RPGR):c.3008_3010del (p.Gly1003del)
|
|
|
NM_001034853.2(RPGR):c.3017_3018del (p.Glu1006fs)
|
|
|
NM_001034853.2(RPGR):c.3018G>A (p.Glu1006=)
|
|
|
NM_001034853.2(RPGR):c.3018G>C (p.Glu1006Asp)
|
|
|
NM_001034853.2(RPGR):c.3020AAG[1] (p.Glu1008del)
|
|
|
NM_001034853.2(RPGR):c.3020_3031del (p.Glu1007_Glu1010del)
|
|
|
NM_001034853.2(RPGR):c.3022G>A (p.Glu1008Lys)
|
|
|
NM_001034853.2(RPGR):c.3027_3028del (p.Glu1010fs)
|
rs1569235565
|
|
NM_001034853.2(RPGR):c.3032_3043del (p.1009GE[1])
|
|
|
NM_001034853.2(RPGR):c.3032del (p.Gly1011fs)
|
|
|
NM_001034853.2(RPGR):c.3034del (p.Glu1012fs)
|
rs2067128124
|
|
NM_001034853.2(RPGR):c.3039_3040del (p.Glu1014fs)
|
rs2067127718
|
|
NM_001034853.2(RPGR):c.3040del (p.Glu1014fs)
|
|
|
NM_001034853.2(RPGR):c.3044A>G (p.Glu1015Gly)
|
|
|
NM_001034853.2(RPGR):c.3046G>A (p.Glu1016Lys)
|
|
|
NM_001034853.2(RPGR):c.3049G>T (p.Glu1017Ter)
|
rs2067127275
|
|
NM_001034853.2(RPGR):c.3050_3051del (p.Glu1017fs)
|
|
|
NM_001034853.2(RPGR):c.3051_3053del (p.Glu1018del)
|
rs200955614
|
|
NM_001034853.2(RPGR):c.3051_3065del (p.Glu1018_Glu1022del)
|
|
|
NM_001034853.2(RPGR):c.305C>G (p.Ser102Ter)
|
|
|
NM_001034853.2(RPGR):c.3060_3071del (p.1021_1024VEGE[1])
|
rs199896738
|
|
NM_001034853.2(RPGR):c.3062TGGAAGGGGAGG[1] (p.1021VEGE[1])
|
rs201134185
|
|
NM_001034853.2(RPGR):c.3062TGGAAGGGGAGG[3] (p.Glu1028_Glu1029insValGluGlyGlu)
|
|
|
NM_001034853.2(RPGR):c.3070G>C (p.Glu1024Gln)
|
|
|
NM_001034853.2(RPGR):c.3070G>T (p.Glu1024Ter)
|
rs1799325384
|
|
NM_001034853.2(RPGR):c.3071A>G (p.Glu1024Gly)
|
|
|
NM_001034853.2(RPGR):c.3077_3080del (p.Glu1026fs)
|
rs2067124487
|
|
NM_001034853.2(RPGR):c.3081_3082del (p.Glu1028fs)
|
rs1601918140
|
|
NM_001034853.2(RPGR):c.3081_3091del (p.Glu1028fs)
|
rs1555961350
|
|
NM_001034853.2(RPGR):c.3082G>T (p.Glu1028Ter)
|
|
|
NM_001034853.2(RPGR):c.308C>A (p.Thr103Lys)
|
|
|
NM_001034853.2(RPGR):c.308C>T (p.Thr103Ile)
|
rs2147285611
|
|
NM_001034853.2(RPGR):c.3092_3093del (p.Glu1031fs)
|
rs606231181
|
|
NM_001034853.2(RPGR):c.3092del (p.Glu1031fs)
|
rs1186795749
|
|
NM_001034853.2(RPGR):c.3095_3106del (p.1030GE[1])
|
|
|
NM_001034853.2(RPGR):c.3096_3097del (p.Glu1033fs)
|
rs606231180
|
|
NM_001034853.2(RPGR):c.3097del (p.Glu1033fs)
|
|
|
NM_001034853.2(RPGR):c.3097dup (p.Glu1033fs)
|
rs606231180
|
|
NM_001034853.2(RPGR):c.310+1G>C
|
rs62638639
|
|
NM_001034853.2(RPGR):c.310+1_310+2insGGTGCTCAACCT
|
rs1601978817
|
|
NM_001034853.2(RPGR):c.310+3A>G
|
rs62638640
|
|
NM_001034853.2(RPGR):c.310+7T>G
|
rs2067929126
|
|
NM_001034853.2(RPGR):c.3104_3105del (p.Glu1035fs)
|
rs1601917999
|
|
NM_001034853.2(RPGR):c.3106del (p.Glu1036fs)
|
|
|
NM_001034853.2(RPGR):c.3108_3122del (p.1033EGEEE[1])
|
rs774012136
|
|
NM_001034853.2(RPGR):c.3109G>T (p.Glu1037Ter)
|
rs866524368
|
|
NM_001034853.2(RPGR):c.310G>A (p.Glu104Lys)
|
rs1601978823
|
|
NM_001034853.2(RPGR):c.310G>T (p.Glu104Ter)
|
rs1601978823
|
|
NM_001034853.2(RPGR):c.311-10C>A
|
|
|
NM_001034853.2(RPGR):c.311-1G>A
|
|
|
NM_001034853.2(RPGR):c.311-20G>A
|
|
|
NM_001034853.2(RPGR):c.311-4G>A
|
|
|
NM_001034853.2(RPGR):c.311-6G>A
|
|
|
NM_001034853.2(RPGR):c.311-7T>C
|
|
|
NM_001034853.2(RPGR):c.3114_3122del (p.Gly1039_Glu1041del)
|
|
|
NM_001034853.2(RPGR):c.3116_3118del (p.Gly1039del)
|
rs200211905
|
|
NM_001034853.2(RPGR):c.3120GGA[1] (p.Glu1042del)
|
rs748582313
|
|
NM_001034853.2(RPGR):c.3133G>T (p.Glu1045Ter)
|
|
|
NM_001034853.2(RPGR):c.3143A>G (p.Lys1048Arg)
|
rs2147190857
|
|
NM_001034853.2(RPGR):c.3143AGG[1] (p.Glu1049del)
|
|
|
NM_001034853.2(RPGR):c.3149G>A (p.Gly1050Glu)
|
|
|
NM_001034853.2(RPGR):c.3150_3151del (p.Glu1051fs)
|
rs2147190794
|
|
NM_001034853.2(RPGR):c.3160G>T (p.Glu1054Ter)
|
rs2067118339
|
|
NM_001034853.2(RPGR):c.3166_3167del (p.Arg1056fs)
|
|
|
NM_001034853.2(RPGR):c.3167GGA[1] (p.Arg1057del)
|
|
|
NM_001034853.2(RPGR):c.3172A>G (p.Asn1058Asp)
|
|
|
NM_001034853.2(RPGR):c.3175del (p.Arg1059fs)
|
rs2067117666
|
|
NM_001034853.2(RPGR):c.3178_3179del (p.Glu1060fs)
|
rs771214648
|
|
NM_001034853.2(RPGR):c.3183GGA[2] (p.Glu1066del)
|
rs746535151
|
|
NM_001034853.2(RPGR):c.3184G>T (p.Glu1062Ter)
|
rs2147190626
|
|
NM_001034853.2(RPGR):c.3186G>C (p.Glu1062Asp)
|
|
|
NM_001034853.2(RPGR):c.3190G>T (p.Glu1064Ter)
|
rs2067117239
|
|
NM_001034853.2(RPGR):c.3197_3198del (p.Glu1066fs)
|
|
|
NM_001034853.2(RPGR):c.3198_3214dup (p.Thr1072fs)
|
|
|
NM_001034853.2(RPGR):c.3199G>A (p.Gly1067Arg)
|
|
|
NM_001034853.2(RPGR):c.3200_3218dup (p.Glu1075fs)
|
rs2147190484
|
|
NM_001034853.2(RPGR):c.3202A>T (p.Lys1068Ter)
|
|
|
NM_001034853.2(RPGR):c.3204G>A (p.Lys1068=)
|
|
|
NM_001034853.2(RPGR):c.3208C>T (p.Gln1070Ter)
|
|
|
NM_001034853.2(RPGR):c.320A>G (p.Asn107Ser)
|
|
|
NM_001034853.2(RPGR):c.3212_3218del (p.Glu1071fs)
|
rs2147190470
|
|
NM_001034853.2(RPGR):c.3220G>T (p.Glu1074Ter)
|
|
|
NM_001034853.2(RPGR):c.3221_3225del (p.Glu1074fs)
|
|
|
NM_001034853.2(RPGR):c.322_324del (p.Val108del)
|
rs2067878524
|
|
NM_001034853.2(RPGR):c.3231_3234del (p.Asn1077fs)
|
|
|
NM_001034853.2(RPGR):c.3238C>T (p.Gln1080Ter)
|
|
|
NM_001034853.2(RPGR):c.3248_3252del (p.Glu1083fs)
|
|
|
NM_001034853.2(RPGR):c.3250G>T (p.Glu1084Ter)
|
|
|
NM_001034853.2(RPGR):c.3255C>A (p.Tyr1085Ter)
|
|
|
NM_001034853.2(RPGR):c.3255del (p.Glu1084_Tyr1085insTer)
|
rs2067115815
|
|
NM_001034853.2(RPGR):c.3263_3266del (p.Val1088fs)
|
|
|
NM_001034853.2(RPGR):c.3266G>A (p.Ser1089Asn)
|
|
|
NM_001034853.2(RPGR):c.3271A>G (p.Ile1091Val)
|
|
|
NM_001034853.2(RPGR):c.327dup (p.Ala110fs)
|
rs2067878443
|
|
NM_001034853.2(RPGR):c.3285G>A (p.Val1095=)
|
rs1601917276
|
|
NM_001034853.2(RPGR):c.3291T>C (p.Tyr1097=)
|
|
|
NM_001034853.2(RPGR):c.3293G>A (p.Gly1098Asp)
|
|
|
NM_001034853.2(RPGR):c.3300_3301del (p.His1100fs)
|
rs2067114709
|
|
NM_001034853.2(RPGR):c.3308_3309del (p.Tyr1103fs)
|
|
|
NM_001034853.2(RPGR):c.3313A>T (p.Lys1105Ter)
|
|
|
NM_001034853.2(RPGR):c.3316_3319del (p.Lys1106fs)
|
|
|
NM_001034853.2(RPGR):c.3317A>C (p.Lys1106Thr)
|
|
|
NM_001034853.2(RPGR):c.3317A>G (p.Lys1106Arg)
|
|
|
NM_001034853.2(RPGR):c.3317A>T (p.Lys1106Met)
|
|
|
NM_001034853.2(RPGR):c.3317del (p.Lys1106fs)
|
|
|
NM_001034853.2(RPGR):c.3317dup (p.Ser1107fs)
|
rs886041376
|
|
NM_001034853.2(RPGR):c.3342T>G (p.Asn1114Lys)
|
|
|
NM_001034853.2(RPGR):c.3348A>G (p.Lys1116=)
|
|
|
NM_001034853.2(RPGR):c.3348del (p.Glu1117fs)
|
|
|
NM_001034853.2(RPGR):c.334G>A (p.Gly112Ser)
|
|
|
NM_001034853.2(RPGR):c.3351G>C (p.Glu1117Asp)
|
|
|
NM_001034853.2(RPGR):c.335G>A (p.Gly112Asp)
|
rs2067878321
|
|
NM_001034853.2(RPGR):c.335del (p.Gly112fs)
|
|
|
NM_001034853.2(RPGR):c.3364dup (p.Met1122fs)
|
|
|
NM_001034853.2(RPGR):c.3371T>A (p.Val1124Asp)
|
|
|
NM_001034853.2(RPGR):c.3373C>T (p.Gln1125Ter)
|
rs1601917052
|
|
NM_001034853.2(RPGR):c.3377C>T (p.Ser1126Leu)
|
|
|
NM_001034853.2(RPGR):c.3384A>C (p.Arg1128=)
|
|
|
NM_001034853.2(RPGR):c.3389del (p.Leu1129_Leu1130insTer)
|
|
|
NM_001034853.2(RPGR):c.3395del (p.Asn1132fs)
|
|
|
NM_001034853.2(RPGR):c.3396C>A (p.Asn1132Lys)
|
|
|
NM_001034853.2(RPGR):c.3396del (p.Asn1132fs)
|
|
|
NM_001034853.2(RPGR):c.3397G>A (p.Gly1133Arg)
|
|
|
NM_001034853.2(RPGR):c.3405A>T (p.Ser1135=)
|
|
|
NM_001034853.2(RPGR):c.3413A>G (p.Lys1138Arg)
|
rs1569234937
|
|
NM_001034853.2(RPGR):c.3416A>C (p.Lys1139Thr)
|
|
|
NM_001034853.2(RPGR):c.3423G>A (p.Trp1141Ter)
|
|
|
NM_001034853.2(RPGR):c.3423G>T (p.Trp1141Cys)
|
rs2067111911
|
|
NM_001034853.2(RPGR):c.344A>G (p.Asn115Ser)
|
rs2147280549
|
|
NM_001034853.2(RPGR):c.3451T>C (p.Leu1151=)
|
|
|
NM_001034853.2(RPGR):c.3453G>T (p.Leu1151Phe)
|
rs1555961220
|
|
NM_001034853.2(RPGR):c.3457T>A (p.Ter1153Lys)
|
rs2067111489
|
|
NM_001034853.2(RPGR):c.349_350insA (p.Gly117fs)
|
|
|
NM_001034853.2(RPGR):c.350G>A (p.Gly117Glu)
|
|
|
NM_001034853.2(RPGR):c.353A>C (p.Gln118Pro)
|
|
|
NM_001034853.2(RPGR):c.354G>C (p.Gln118His)
|
rs2147280538
|
|
NM_001034853.2(RPGR):c.356T>C (p.Leu119Ser)
|
|
|
NM_001034853.2(RPGR):c.356del (p.Leu119fs)
|
rs62638641
|
|
NM_001034853.2(RPGR):c.358G>A (p.Gly120Arg)
|
|
|
NM_001034853.2(RPGR):c.359G>A (p.Gly120Glu)
|
|
|
NM_001034853.2(RPGR):c.360G>A (p.Gly120=)
|
|
|
NM_001034853.2(RPGR):c.360del (p.Gly122fs)
|
|
|
NM_001034853.2(RPGR):c.362T>G (p.Leu121Arg)
|
rs2067878147
|
|
NM_001034853.2(RPGR):c.369C>G (p.Asp123Glu)
|
rs2147280505
|
|
NM_001034853.2(RPGR):c.372del (p.Glu125fs)
|
rs62638642
|
|
NM_001034853.2(RPGR):c.379A>G (p.Arg127Gly)
|
rs62638643
|
|
NM_001034853.2(RPGR):c.379del (p.Arg127fs)
|
rs2067877633
|
|
NM_001034853.2(RPGR):c.382_383del (p.Asn128fs)
|
rs2067877357
|
|
NM_001034853.2(RPGR):c.389T>C (p.Phe130Ser)
|
rs62638644
|
|
NM_001034853.2(RPGR):c.389T>G (p.Phe130Cys)
|
rs62638644
|
|
NM_001034853.2(RPGR):c.389_390del (p.Phe130fs)
|
rs1601974881
|
|
NM_001034853.2(RPGR):c.38C>T (p.Ala13Val)
|
|
|
NM_001034853.2(RPGR):c.392A>G (p.His131Arg)
|
|
|
NM_001034853.2(RPGR):c.397A>T (p.Ile133Phe)
|
|
|
NM_001034853.2(RPGR):c.39T>C (p.Ala13=)
|
|
|
NM_001034853.2(RPGR):c.408T>A (p.Phe136Leu)
|
|
|
NM_001034853.2(RPGR):c.408dup (p.Thr137fs)
|
|
|
NM_001034853.2(RPGR):c.40G>A (p.Val14Met)
|
|
|
NM_001034853.2(RPGR):c.414C>G (p.Ser138=)
|
|
|
NM_001034853.2(RPGR):c.415G>T (p.Glu139Ter)
|
rs62638645
|
|
NM_001034853.2(RPGR):c.417G>A (p.Glu139=)
|
|
|
NM_001034853.2(RPGR):c.41T>A (p.Val14Glu)
|
|
|
NM_001034853.2(RPGR):c.41dup (p.Phe15fs)
|
|
|
NM_001034853.2(RPGR):c.423del (p.Ile142fs)
|
rs1569258901
|
|
NM_001034853.2(RPGR):c.427A>T (p.Lys143Ter)
|
|
|
NM_001034853.2(RPGR):c.42G>C (p.Val14=)
|
|
|
NM_001034853.2(RPGR):c.430C>T (p.Gln144Ter)
|
|
|
NM_001034853.2(RPGR):c.436T>C (p.Ser146Pro)
|
rs2147280274
|
|
NM_001034853.2(RPGR):c.439G>A (p.Ala147Thr)
|
|
|
NM_001034853.2(RPGR):c.442G>A (p.Gly148Arg)
|
rs2067876063
|
|
NM_001034853.2(RPGR):c.442G>C (p.Gly148Arg)
|
|
|
NM_001034853.2(RPGR):c.443G>A (p.Gly148Glu)
|
rs2067875982
|
|
NM_001034853.2(RPGR):c.444A>T (p.Gly148=)
|
|
|
NM_001034853.2(RPGR):c.452C>T (p.Thr151Ile)
|
rs1060501180
|
|
NM_001034853.2(RPGR):c.453T>G (p.Thr151=)
|
|
|
NM_001034853.2(RPGR):c.454T>C (p.Ser152Pro)
|
|
|
NM_001034853.2(RPGR):c.457G>A (p.Ala153Thr)
|
rs2067875526
|
|
NM_001034853.2(RPGR):c.466A>G (p.Thr156Ala)
|
|
|
NM_001034853.2(RPGR):c.467C>A (p.Thr156Asn)
|
rs751512713
|
|
NM_001034853.2(RPGR):c.467C>T (p.Thr156Ile)
|
rs751512713
|
|
NM_001034853.2(RPGR):c.469+13del
|
|
|
NM_001034853.2(RPGR):c.469+18T>C
|
|
|
NM_001034853.2(RPGR):c.469+1G>A
|
rs62638646
|
|
NM_001034853.2(RPGR):c.469+1G>T
|
rs62638646
|
|
NM_001034853.2(RPGR):c.469+293_469+298del
|
rs199613892
|
|
NM_001034853.2(RPGR):c.469+4A>G
|
|
|
NM_001034853.2(RPGR):c.469_469+5del
|
rs2067875112
|
|
NM_001034853.2(RPGR):c.470-13T>G
|
|
|
NM_001034853.2(RPGR):c.470-1G>A
|
|
|
NM_001034853.2(RPGR):c.470-73_619+1581del
|
|
|
NM_001034853.2(RPGR):c.484_486del (p.Phe162del)
|
rs281865297
|
|
NM_001034853.2(RPGR):c.485_486del (p.Phe162fs)
|
rs281865297
|
|
NM_001034853.2(RPGR):c.486del (p.Phe162fs)
|
rs281865297
|
|
NM_001034853.2(RPGR):c.488T>A (p.Met163Lys)
|
|
|
NM_001034853.2(RPGR):c.490T>G (p.Trp164Gly)
|
|
|
NM_001034853.2(RPGR):c.492G>A (p.Trp164Ter)
|
rs62638648
|
|
NM_001034853.2(RPGR):c.492G>T (p.Trp164Cys)
|
rs62638648
|
|
NM_001034853.2(RPGR):c.493G>C (p.Gly165Arg)
|
rs2067847091
|
|
NM_001034853.2(RPGR):c.494G>A (p.Gly165Asp)
|
rs1601972449
|
|
NM_001034853.2(RPGR):c.494G>T (p.Gly165Val)
|
|
|
NM_001034853.2(RPGR):c.501T>A (p.Asn167Lys)
|
rs2147276925
|
|
NM_001034853.2(RPGR):c.503C>A (p.Ser168Tyr)
|
|
|
NM_001034853.2(RPGR):c.504C>T (p.Ser168=)
|
|
|
NM_001034853.2(RPGR):c.505G>T (p.Glu169Ter)
|
rs369037463
|
|
NM_001034853.2(RPGR):c.517G>C (p.Gly173Arg)
|
rs137852550
|
|
NM_001034853.2(RPGR):c.528T>C (p.Asn176=)
|
|
|
NM_001034853.2(RPGR):c.529G>A (p.Val177Ile)
|
|
|
NM_001034853.2(RPGR):c.536del (p.Asn179fs)
|
|
|
NM_001034853.2(RPGR):c.544_545del (p.Val182fs)
|
rs2147276819
|
|
NM_001034853.2(RPGR):c.550C>T (p.Gln184Ter)
|
|
|
NM_001034853.2(RPGR):c.561_562insTTG (p.Thr187_Ile188insLeu)
|
|
|
NM_001034853.2(RPGR):c.562A>G (p.Ile188Val)
|
|
|
NM_001034853.2(RPGR):c.565G>A (p.Gly189Arg)
|
rs1057523984
|
|
NM_001034853.2(RPGR):c.572_619+9del
|
|
|
NM_001034853.2(RPGR):c.578_588del (p.Ser193fs)
|
rs1569257917
|
|
NM_001034853.2(RPGR):c.581G>A (p.Trp194Ter)
|
rs62650216
|
|
NM_001034853.2(RPGR):c.587C>G (p.Ser196Cys)
|
|
|
NM_001034853.2(RPGR):c.588T>G (p.Ser196=)
|
|
|
NM_001034853.2(RPGR):c.590G>A (p.Cys197Tyr)
|
|
|
NM_001034853.2(RPGR):c.592G>A (p.Gly198Arg)
|
rs1601972255
|
|
NM_001034853.2(RPGR):c.597T>G (p.Tyr199Ter)
|
|
|
NM_001034853.2(RPGR):c.602A>T (p.His201Leu)
|
rs2067845149
|
|
NM_001034853.2(RPGR):c.605C>A (p.Ser202Ter)
|
rs62650217
|
|
NM_001034853.2(RPGR):c.607G>C (p.Ala203Pro)
|
|
|
NM_001034853.2(RPGR):c.617C>G (p.Thr206Arg)
|
|
|
NM_001034853.2(RPGR):c.617C>T (p.Thr206Ile)
|
rs1555967757
|
|
NM_001034853.2(RPGR):c.619+11T>C
|
|
|
NM_001034853.2(RPGR):c.619+18G>A
|
rs368570763
|
|
NM_001034853.2(RPGR):c.619+1G>C
|
|
|
NM_001034853.2(RPGR):c.619+2T>A
|
rs2067844613
|
|
NM_001034853.2(RPGR):c.619+2_619+5del
|
|
|
NM_001034853.2(RPGR):c.619+4A>G
|
rs2067844549
|
|
NM_001034853.2(RPGR):c.619+5G>A
|
rs62638649
|
|
NM_001034853.2(RPGR):c.619+5G>C
|
|
|
NM_001034853.2(RPGR):c.620-105G>C
|
rs35019417
|
|
NM_001034853.2(RPGR):c.620-17T>C
|
|
|
NM_001034853.2(RPGR):c.620-2A>G
|
|
|
NM_001034853.2(RPGR):c.620-4A>G
|
|
|
NM_001034853.2(RPGR):c.620-5A>G
|
|
|
NM_001034853.2(RPGR):c.620-6C>T
|
|
|
NM_001034853.2(RPGR):c.633A>G (p.Leu211=)
|
|
|
NM_001034853.2(RPGR):c.633del (p.Tyr212fs)
|
rs1555966753
|
|
NM_001034853.2(RPGR):c.636T>G (p.Tyr212Ter)
|
|
|
NM_001034853.2(RPGR):c.642_656delinsC (p.Gly215fs)
|
rs796065331
|
|
NM_001034853.2(RPGR):c.644G>T (p.Gly215Val)
|
rs62650218
|
|
NM_001034853.2(RPGR):c.646G>A (p.Glu216Lys)
|
|
|
NM_001034853.2(RPGR):c.657T>C (p.Asn219=)
|
|
|
NM_001034853.2(RPGR):c.665T>G (p.Leu222Ter)
|
rs2147261937
|
|
NM_001034853.2(RPGR):c.665del (p.Lys221_Leu222insTer)
|
|
|
NM_001034853.2(RPGR):c.673C>T (p.Pro225Ser)
|
|
|
NM_001034853.2(RPGR):c.676A>G (p.Asn226Asp)
|
|
|
NM_001034853.2(RPGR):c.677A>C (p.Asn226Thr)
|
|
|
NM_001034853.2(RPGR):c.677A>G (p.Asn226Ser)
|
|
|
NM_001034853.2(RPGR):c.679C>T (p.Gln227Ter)
|
rs2067700774
|
|
NM_001034853.2(RPGR):c.680A>G (p.Gln227Arg)
|
rs774988145
|
|
NM_001034853.2(RPGR):c.68C>A (p.Ala23Asp)
|
rs2147291804
|
|
NM_001034853.2(RPGR):c.690C>A (p.Gly230=)
|
|
|
NM_001034853.2(RPGR):c.692A>G (p.Asn231Ser)
|
|
|
NM_001034853.2(RPGR):c.703C>T (p.Pro235Ser)
|
rs62638651
|
|
NM_001034853.2(RPGR):c.706C>T (p.Gln236Ter)
|
rs62638652
|
|
NM_001034853.2(RPGR):c.706del (p.Gln236fs)
|
rs1601961173
|
|
NM_001034853.2(RPGR):c.718G>T (p.Glu240Ter)
|
|
|
NM_001034853.2(RPGR):c.725C>A (p.Pro242Gln)
|
|
|
NM_001034853.2(RPGR):c.725C>T (p.Pro242Leu)
|
|
|
NM_001034853.2(RPGR):c.726G>A (p.Pro242=)
|
|
|
NM_001034853.2(RPGR):c.730A>T (p.Lys244Ter)
|
rs62638653
|
|
NM_001034853.2(RPGR):c.735G>A (p.Val245=)
|
|
|
NM_001034853.2(RPGR):c.736_745dup (p.Ala249fs)
|
rs2147261738
|
|
NM_001034853.2(RPGR):c.739C>T (p.Gln247Ter)
|
|
|
NM_001034853.2(RPGR):c.747del (p.Cys250fs)
|
rs62650219
|
|
NM_001034853.2(RPGR):c.748T>C (p.Cys250Arg)
|
rs62650220
|
|
NM_001034853.2(RPGR):c.749G>A (p.Cys250Tyr)
|
rs1601961064
|
|
NM_001034853.2(RPGR):c.750T>C (p.Cys250=)
|
|
|
NM_001034853.2(RPGR):c.750_751del (p.Cys250fs)
|
rs281865299
|
|
NM_001034853.2(RPGR):c.752G>A (p.Gly251Asp)
|
rs1555966699
|
|
NM_001034853.2(RPGR):c.754G>A (p.Gly252Arg)
|
|
|
NM_001034853.2(RPGR):c.758A>G (p.Glu253Gly)
|
|
|
NM_001034853.2(RPGR):c.764C>T (p.Thr255Ile)
|
|
|
NM_001034853.2(RPGR):c.768G>A (p.Val256=)
|
|
|
NM_001034853.2(RPGR):c.774C>T (p.Leu258=)
|
|
|
NM_001034853.2(RPGR):c.777G>A (p.Thr259=)
|
rs794727844
|
|
NM_001034853.2(RPGR):c.778+11A>G
|
|
|
NM_001034853.2(RPGR):c.778+16A>G
|
|
|
NM_001034853.2(RPGR):c.778+1G>A
|
|
|
NM_001034853.2(RPGR):c.778+1G>T
|
|
|
NM_001034853.2(RPGR):c.778+1del
|
rs2147261624
|
|
NM_001034853.2(RPGR):c.778+3A>T
|
rs1218824822
|
|
NM_001034853.2(RPGR):c.778+7G>A
|
|
|
NM_001034853.2(RPGR):c.778+84dup
|
rs35587043
|
|
NM_001034853.2(RPGR):c.779-16G>T
|
|
|
NM_001034853.2(RPGR):c.779-1G>A
|
rs62638655
|
|
NM_001034853.2(RPGR):c.779-2A>G
|
rs2147248124
|
|
NM_001034853.2(RPGR):c.779-3C>A
|
rs1555965712
|
|
NM_001034853.2(RPGR):c.779-5T>G
|
rs2067565504
|
|
NM_001034853.2(RPGR):c.779-7C>G
|
|
|
NM_001034853.2(RPGR):c.780G>T (p.Glu260Asp)
|
rs1328506002
|
|
NM_001034853.2(RPGR):c.783_784insA (p.Ala262fs)
|
|
|
NM_001034853.2(RPGR):c.789_790del (p.Thr265fs)
|
rs2147248070
|
|
NM_001034853.2(RPGR):c.792dup (p.Thr265fs)
|
|
|
NM_001034853.2(RPGR):c.793_794dup (p.Phe266fs)
|
|
|
NM_001034853.2(RPGR):c.799G>C (p.Gly267Arg)
|
rs2147248035
|
|
NM_001034853.2(RPGR):c.800G>T (p.Gly267Val)
|
rs2147248019
|
|
NM_001034853.2(RPGR):c.806G>A (p.Gly269Glu)
|
rs398123336
|
|
NM_001034853.2(RPGR):c.808C>T (p.Gln270Ter)
|
rs878853374
|
|
NM_001034853.2(RPGR):c.814G>T (p.Gly272Cys)
|
|
|
NM_001034853.2(RPGR):c.815G>T (p.Gly272Val)
|
|
|
NM_001034853.2(RPGR):c.81del (p.Gly28fs)
|
|
|
NM_001034853.2(RPGR):c.823G>A (p.Gly275Ser)
|
rs62642057
|
|
NM_001034853.2(RPGR):c.823G>C (p.Gly275Arg)
|
rs62642057
|
|
NM_001034853.2(RPGR):c.823G>T (p.Gly275Cys)
|
|
|
NM_001034853.2(RPGR):c.824G>A (p.Gly275Asp)
|
|
|
NM_001034853.2(RPGR):c.833_836del (p.Thr278fs)
|
rs62640584
|
|
NM_001034853.2(RPGR):c.836_837del (p.Phe279fs)
|
rs62640586
|
|
NM_001034853.2(RPGR):c.837del (p.Leu280fs)
|
rs62640586
|
|
NM_001034853.2(RPGR):c.838_842del (p.Phe279_Leu280insTer)
|
|
|
NM_001034853.2(RPGR):c.843T>C (p.Phe281=)
|
|
|
NM_001034853.2(RPGR):c.869del (p.Glu290fs)
|
rs62640588
|
|
NM_001034853.2(RPGR):c.872A>G (p.Asn291Ser)
|
|
|
NM_001034853.2(RPGR):c.878G>T (p.Arg293Met)
|
|
|
NM_001034853.2(RPGR):c.87A>G (p.Lys29=)
|
|
|
NM_001034853.2(RPGR):c.883C>T (p.Gln295Ter)
|
rs2067562961
|
|
NM_001034853.2(RPGR):c.886_900del (p.Thr296_Ile300del)
|
rs62653026
|
|
NM_001034853.2(RPGR):c.894_895del (p.Ser298fs)
|
rs527236111
|
|
NM_001034853.2(RPGR):c.897T>A (p.Tyr299Ter)
|
rs2147247751
|
|
NM_001034853.2(RPGR):c.897dup (p.Ile300fs)
|
rs1601951704
|
|
NM_001034853.2(RPGR):c.900T>G (p.Ile300Met)
|
|
|
NM_001034853.2(RPGR):c.904T>C (p.Cys302Arg)
|
rs62640589
|
|
NM_001034853.2(RPGR):c.905G>A (p.Cys302Tyr)
|
rs62640590
|
|
NM_001034853.2(RPGR):c.907G>T (p.Gly303Ter)
|
rs2067562201
|
|
NM_001034853.2(RPGR):c.908G>A (p.Gly303Glu)
|
rs878853375
|
|
NM_001034853.2(RPGR):c.914dup (p.Asn305fs)
|
rs1555965653
|
|
NM_001034853.2(RPGR):c.918C>T (p.His306=)
|
|
|
NM_001034853.2(RPGR):c.919del (p.Thr307fs)
|
rs1601951595
|
|
NM_001034853.2(RPGR):c.920C>A (p.Thr307Lys)
|
rs2147247612
|
|
NM_001034853.2(RPGR):c.922G>C (p.Ala308Pro)
|
rs527236112
|
|
NM_001034853.2(RPGR):c.931A>G (p.Thr311Ala)
|
rs62640591
|
|
NM_001034853.2(RPGR):c.934+11G>A
|
|
|
NM_001034853.2(RPGR):c.934+1G>A
|
rs62640592
|
|
NM_001034853.2(RPGR):c.934+1G>C
|
rs62640592
|
|
NM_001034853.2(RPGR):c.934+1G>T
|
rs62640592
|
|
NM_001034853.2(RPGR):c.934+2T>C
|
rs2147247534
|
|
NM_001034853.2(RPGR):c.934+7A>G
|
|
|
NM_001034853.2(RPGR):c.934G>A (p.Asp312Asn)
|
|
|
NM_001034853.2(RPGR):c.934G>T (p.Asp312Tyr)
|
|
|
NM_001034853.2(RPGR):c.935-1G>T
|
rs2067498051
|
|
NM_001034853.2(RPGR):c.935-2A>G
|
rs2067498092
|
|
NM_001034853.2(RPGR):c.939C>T (p.Ile313=)
|
|
|
NM_001034853.2(RPGR):c.93G>A (p.Trp31Ter)
|
|
|
NM_001034853.2(RPGR):c.942C>T (p.Gly314=)
|
|
|
NM_001034853.2(RPGR):c.948G>A (p.Met316Ile)
|
|
|
NM_001034853.2(RPGR):c.957del (p.Phe319fs)
|
rs1601947074
|
|
NM_001034853.2(RPGR):c.958G>A (p.Gly320Arg)
|
rs62640593
|
|
NM_001034853.2(RPGR):c.964G>A (p.Gly322Ser)
|
|
|
NM_001034853.2(RPGR):c.967C>G (p.Arg323Gly)
|
|
|
NM_001034853.2(RPGR):c.967C>T (p.Arg323Cys)
|
|
|
NM_001034853.2(RPGR):c.971A>G (p.His324Arg)
|
|
|
NM_001034853.2(RPGR):c.972C>G (p.His324Gln)
|
|
|
NM_001034853.2(RPGR):c.972C>T (p.His324=)
|
|
|
NM_001034853.2(RPGR):c.97A>T (p.Lys33Ter)
|
|
|
NM_001034853.2(RPGR):c.980T>G (p.Leu327Ter)
|
rs62640594
|
|
NM_001034853.2(RPGR):c.983del (p.Gly328fs)
|
rs1555965107
|
|
NM_001034853.2(RPGR):c.994G>T (p.Glu332Ter)
|
rs62642058
|
|