|
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.2793G>A (p.Glu931=)
|
rs1446705794
|
0.00203
|
|
NM_001034853.2(RPGR):c.732G>A (p.Lys244=)
|
rs62638654
|
0.00191
|
|
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.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_001034853.2(RPGR):c.1721C>T (p.Thr574Met)
|
rs202013664
|
0.00027
|
|
NM_001034853.2(RPGR):c.1754-10C>G
|
rs368767915
|
0.00018
|
|
NM_001034853.2(RPGR):c.2729G>A (p.Gly910Glu)
|
rs749762268
|
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.1709C>T (p.Thr570Met)
|
rs202154504
|
0.00013
|
|
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.1163C>T (p.Ala388Val)
|
rs199661899
|
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_000328.3(RPGR):c.2152T>C (p.Tyr718His)
|
rs762173989
|
0.00005
|
|
NM_001034853.2(RPGR):c.1145A>T (p.Asp382Val)
|
rs757714144
|
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_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.1257A>C (p.Pro419=)
|
rs759743089
|
0.00002
|
|
NM_001034853.2(RPGR):c.2543del (p.Glu848fs)
|
rs1233849070
|
0.00002
|
|
NM_000328.3(RPGR):c.2304G>A (p.Pro768=)
|
rs781426804
|
0.00001
|
|
NM_001034853.2(RPGR):c.106G>T (p.Val36Phe)
|
rs62638628
|
0.00001
|
|
NM_001034853.2(RPGR):c.1348T>C (p.Cys450Arg)
|
rs794727019
|
0.00001
|
|
NM_001034853.2(RPGR):c.1624G>A (p.Asp542Asn)
|
rs1159969109
|
0.00001
|
|
NM_001034853.2(RPGR):c.248-7T>C
|
rs772049733
|
0.00001
|
|
NM_001034853.2(RPGR):c.619+8A>G
|
rs1230328335
|
0.00001
|
|
NM_001034853.2(RPGR):c.649C>T (p.Pro217Ser)
|
rs1411541161
|
0.00001
|
|
NM_001034853.2(RPGR):c.778+5G>A
|
rs62640583
|
0.00001
|
|
NM_001034853.2(RPGR):c.968G>A (p.Arg323His)
|
rs2067497181
|
0.00001
|
|
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.*874_*875insA
|
rs281865323
|
|
|
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.*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.2055A>G (p.Arg685=)
|
rs281865306
|
|
|
NM_000328.3(RPGR):c.2074G>C (p.Ala692Pro)
|
|
|
|
NM_000328.3(RPGR):c.2080A>T (p.Thr694Ser)
|
rs281865307
|
|
|
NM_000328.3(RPGR):c.2091+114ACATGAAT[3]
|
rs59767997
|
|
|
NM_000328.3(RPGR):c.2146A>G (p.Lys716Glu)
|
rs771791722
|
|
|
NM_000328.3(RPGR):c.2150-266T>A
|
rs4827345
|
|
|
NM_000328.3(RPGR):c.2226G>A (p.Met742Ile)
|
rs281865308
|
|
|
NM_000328.3(RPGR):c.2241+5G>A
|
|
|
|
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.2267C>T (p.Ser756Leu)
|
rs766828733
|
|
|
NM_000328.3(RPGR):c.2311del (p.Glu771fs)
|
rs281865311
|
|
|
NM_000328.3(RPGR):c.2332C>A (p.Gln778Lys)
|
rs1555958965
|
|
|
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.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.1015dup (p.Ile339fs)
|
|
|
|
NM_001034853.2(RPGR):c.101del (p.Asn34fs)
|
rs281865295
|
|
|
NM_001034853.2(RPGR):c.1040dup (p.Leu347fs)
|
rs2147238438
|
|
|
NM_001034853.2(RPGR):c.1052T>A (p.Val351Asp)
|
|
|
|
NM_001034853.2(RPGR):c.1054_1058del (p.Lys352fs)
|
rs1555965081
|
|
|
NM_001034853.2(RPGR):c.1066T>C (p.Cys356Arg)
|
rs794726978
|
|
|
NM_001034853.2(RPGR):c.1092dup (p.Ala365fs)
|
rs281865301
|
|
|
NM_001034853.2(RPGR):c.1100del (p.Pro367fs)
|
rs62635000
|
|
|
NM_001034853.2(RPGR):c.1120G>T (p.Glu374Ter)
|
rs62635001
|
|
|
NM_001034853.2(RPGR):c.1159del (p.Val387fs)
|
|
|
|
NM_001034853.2(RPGR):c.1187dup (p.Leu396fs)
|
rs1555964576
|
|
|
NM_001034853.2(RPGR):c.119_122del (p.Leu40fs)
|
|
|
|
NM_001034853.2(RPGR):c.1216_1217del (p.Leu406fs)
|
rs2067448565
|
|
|
NM_001034853.2(RPGR):c.1217dup (p.Ser407fs)
|
rs1601943325
|
|
|
NM_001034853.2(RPGR):c.1220C>A (p.Ser407Ter)
|
rs772201779
|
|
|
NM_001034853.2(RPGR):c.1234C>T (p.Arg412Ter)
|
rs1601943268
|
|
|
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+3A>G
|
rs62635002
|
|
|
NM_001034853.2(RPGR):c.1246-2A>C
|
rs2067410562
|
|
|
NM_001034853.2(RPGR):c.1254T>C (p.Ser418=)
|
|
|
|
NM_001034853.2(RPGR):c.1261_1279del (p.Ser421fs)
|
rs281865303
|
|
|
NM_001034853.2(RPGR):c.127G>A (p.Gly43Arg)
|
rs62638629
|
|
|
NM_001034853.2(RPGR):c.1281_1282del (p.Leu428fs)
|
rs2067408614
|
|
|
NM_001034853.2(RPGR):c.1282C>G (p.Leu428Val)
|
|
|
|
NM_001034853.2(RPGR):c.128G>A (p.Gly43Glu)
|
rs62638630
|
|
|
NM_001034853.2(RPGR):c.1307G>A (p.Gly436Asp)
|
rs62635004
|
|
|
NM_001034853.2(RPGR):c.133G>T (p.Glu45Ter)
|
rs1555968524
|
|
|
NM_001034853.2(RPGR):c.1345C>T (p.Arg449Ter)
|
rs2067406342
|
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NM_001034853.2(RPGR):c.1374dup (p.Val459fs)
|
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NM_001034853.2(RPGR):c.1377_1378del (p.Leu460fs)
|
rs62653029
|
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|
NM_001034853.2(RPGR):c.1387C>T (p.Gln463Ter)
|
rs886044302
|
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|
NM_001034853.2(RPGR):c.1402_1405del (p.Pro468fs)
|
rs62653030
|
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|
NM_001034853.2(RPGR):c.1414+1155G>A
|
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|
NM_001034853.2(RPGR):c.1414+1170G>A
|
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|
NM_001034853.2(RPGR):c.1414+1269T>C
|
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NM_001034853.2(RPGR):c.1414+1428A>G
|
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NM_001034853.2(RPGR):c.1414+1450C>G
|
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NM_001034853.2(RPGR):c.1414+9T>C
|
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|
NM_001034853.2(RPGR):c.1415-17C>G
|
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NM_001034853.2(RPGR):c.1443A>C (p.Glu481Asp)
|
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NM_001034853.2(RPGR):c.1477del (p.Gly494fs)
|
rs62635005
|
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|
NM_001034853.2(RPGR):c.1478T>A (p.Leu493His)
|
rs62635006
|
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|
NM_001034853.2(RPGR):c.1481G>T (p.Gly494Val)
|
rs2147212880
|
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|
NM_001034853.2(RPGR):c.1506+3A>G
|
rs2147212763
|
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NM_001034853.2(RPGR):c.1507-103_1507-100del
|
rs10567683
|
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NM_001034853.2(RPGR):c.1507-123TA[10]
|
rs1168785516
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NM_001034853.2(RPGR):c.1507-68T>C
|
rs62643066
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|
NM_001034853.2(RPGR):c.1512_1513del (p.Ile505fs)
|
rs281865304
|
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NM_001034853.2(RPGR):c.1519del (p.Ser507fs)
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NM_001034853.2(RPGR):c.151A>G (p.Thr51Ala)
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NM_001034853.2(RPGR):c.1534G>T (p.Glu512Ter)
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|
NM_001034853.2(RPGR):c.154+1G>A
|
rs2067985165
|
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NM_001034853.2(RPGR):c.154+43A>G
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NM_001034853.2(RPGR):c.154+5G>A
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NM_001034853.2(RPGR):c.154G>A (p.Gly52Arg)
|
rs281865296
|
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NM_001034853.2(RPGR):c.154G>T (p.Gly52Ter)
|
rs281865296
|
|
|
NM_001034853.2(RPGR):c.155-1G>A
|
rs1601982595
|
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NM_001034853.2(RPGR):c.155-2A>G
|
rs62638632
|
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|
NM_001034853.2(RPGR):c.1558G>A (p.Val520Ile)
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NM_001034853.2(RPGR):c.1561C>T (p.Gln521Ter)
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NM_001034853.2(RPGR):c.1573-12A>G
|
rs2067221066
|
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NM_001034853.2(RPGR):c.1573-1G>A
|
rs62635010
|
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NM_001034853.2(RPGR):c.1573-2A>G
|
rs62635009
|
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|
NM_001034853.2(RPGR):c.1573-8A>G
|
rs62635011
|
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NM_001034853.2(RPGR):c.1575_1578del (p.Lys525fs)
|
rs281865305
|
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NM_001034853.2(RPGR):c.1576CAA[1] (p.Gln527del)
|
rs62653033
|
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NM_001034853.2(RPGR):c.1585A>G (p.Ile529Val)
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NM_001034853.2(RPGR):c.159_160insTAA (p.Asn54Ter)
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NM_001034853.2(RPGR):c.1640A>T (p.Tyr547Phe)
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NM_001034853.2(RPGR):c.1651_1659del (p.Ser551_Met553del)
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NM_001034853.2(RPGR):c.1651dup (p.Ser551fs)
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NM_001034853.2(RPGR):c.1747G>T (p.Glu583Ter)
|
rs62635013
|
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NM_001034853.2(RPGR):c.1754-104dup
|
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NM_001034853.2(RPGR):c.1754-10C>T
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NM_001034853.2(RPGR):c.1754-2dup
|
rs2067203496
|
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NM_001034853.2(RPGR):c.178G>A (p.Gly60Ser)
|
rs2147290553
|
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NM_001034853.2(RPGR):c.1796dup (p.Asn599fs)
|
rs2147200895
|
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NM_001034853.2(RPGR):c.179G>T (p.Gly60Val)
|
rs62638634
|
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|
NM_001034853.2(RPGR):c.1819_1820dup (p.Ala608fs)
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NM_001034853.2(RPGR):c.1835dup (p.Asn612fs)
|
rs62635014
|
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NM_001034853.2(RPGR):c.1836del (p.Asn612fs)
|
rs2067201253
|
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NM_001034853.2(RPGR):c.1843del (p.Val615fs)
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NM_001034853.2(RPGR):c.1872_1873del (p.Glu624fs)
|
rs2067200470
|
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NM_001034853.2(RPGR):c.1881dup (p.Asp628fs)
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NM_001034853.2(RPGR):c.1926dup (p.Ser643fs)
|
rs2067199347
|
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NM_001034853.2(RPGR):c.1932_1933insC (p.Gly645fs)
|
rs2147200451
|
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NM_001034853.2(RPGR):c.1938_1939insAGAGG (p.Ala647fs)
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NM_001034853.2(RPGR):c.193G>C (p.Gly65Arg)
|
rs2067975926
|
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NM_001034853.2(RPGR):c.1966dup (p.Asp656fs)
|
rs2067198376
|
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NM_001034853.2(RPGR):c.196C>T (p.Gln66Ter)
|
rs2147290510
|
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NM_001034853.2(RPGR):c.1974C>T (p.Thr658=)
|
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NM_001034853.2(RPGR):c.197A>T (p.Gln66Leu)
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NM_001034853.2(RPGR):c.1983_1995del (p.Gly662fs)
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|
NM_001034853.2(RPGR):c.2038_2056del (p.Asp680fs)
|
rs1601924111
|
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NM_001034853.2(RPGR):c.2055A>G (p.Glu685=)
|
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|
|
NM_001034853.2(RPGR):c.2059dup (p.Glu687fs)
|
rs2067194747
|
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NM_001034853.2(RPGR):c.2067A>T (p.Pro689=)
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NM_001034853.2(RPGR):c.2070del (p.Glu691fs)
|
rs1601924055
|
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NM_001034853.2(RPGR):c.2083G>T (p.Glu695Ter)
|
rs2067193671
|
|
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NM_001034853.2(RPGR):c.2083del (p.Glu695fs)
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NM_001034853.2(RPGR):c.2105_2213dup (p.Glu742fs)
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NM_001034853.2(RPGR):c.2143_2144del (p.Arg715fs)
|
rs2067191541
|
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NM_001034853.2(RPGR):c.2146G>T (p.Glu716Ter)
|
rs2067191335
|
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NM_001034853.2(RPGR):c.2159_2162del (p.Gln720fs)
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NM_001034853.2(RPGR):c.2167del (p.Arg723fs)
|
rs2067190976
|
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NM_001034853.2(RPGR):c.2195del (p.Glu732fs)
|
|
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NM_001034853.2(RPGR):c.219del (p.Ala74fs)
|
rs1601982474
|
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NM_001034853.2(RPGR):c.2218G>T (p.Glu740Ter)
|
rs983693027
|
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NM_001034853.2(RPGR):c.2221G>T (p.Glu741Ter)
|
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|
|
NM_001034853.2(RPGR):c.2236_2237del (p.Glu746fs)
|
rs1555961852
|
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NM_001034853.2(RPGR):c.2240_2253del (p.Glu747fs)
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|
NM_001034853.2(RPGR):c.2246_2253del (p.Glu749fs)
|
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|
NM_001034853.2(RPGR):c.2252_2255del (p.Lys751fs)
|
rs1475590979
|
|
|
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)
|
|
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|
NM_001034853.2(RPGR):c.2270_2271del (p.Glu757fs)
|
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|
|
NM_001034853.2(RPGR):c.2274_2277del (p.Gly759fs)
|
|
|
|
NM_001034853.2(RPGR):c.2296_2299del (p.Gly766fs)
|
rs2067186632
|
|
|
NM_001034853.2(RPGR):c.2303G>A (p.Arg768His)
|
|
|
|
NM_001034853.2(RPGR):c.2323_2324del (p.Arg775fs)
|
rs1555961832
|
|
|
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.2336_2345dup (p.Glu784fs)
|
|
|
|
NM_001034853.2(RPGR):c.2340del (p.Ala781fs)
|
rs2067185564
|
|
|
NM_001034853.2(RPGR):c.2346del (p.Lys783fs)
|
rs1064797365
|
|
|
NM_001034853.2(RPGR):c.2360_2362del (p.Gly787del)
|
rs1287687440
|
|
|
NM_001034853.2(RPGR):c.2378A>G (p.Gln793Arg)
|
|
|
|
NM_001034853.2(RPGR):c.237_238del (p.Val81fs)
|
rs62650215
|
|
|
NM_001034853.2(RPGR):c.2384del (p.Glu795fs)
|
rs1569237206
|
|
|
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.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.2416G>T (p.Glu806Ter)
|
rs1555961787
|
|
|
NM_001034853.2(RPGR):c.2423_2424del (p.Lys808fs)
|
|
|
|
NM_001034853.2(RPGR):c.2424_2427del (p.Glu809fs)
|
|
|
|
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.2432GAGGGGAAGTAGAGG[1] (p.811GGEVE[1])
|
rs777850798
|
|
|
NM_001034853.2(RPGR):c.2442_2445del (p.Gly817fs)
|
rs1569237077
|
|
|
NM_001034853.2(RPGR):c.2451G>A (p.Gly817=)
|
|
|
|
NM_001034853.2(RPGR):c.2455_2468del (p.Val819fs)
|
|
|
|
NM_001034853.2(RPGR):c.246dup (p.Ala83fs)
|
|
|
|
NM_001034853.2(RPGR):c.2476_2477del (p.Arg826fs)
|
rs2067179633
|
|
|
NM_001034853.2(RPGR):c.247G>A (p.Ala83Thr)
|
rs2067974263
|
|
|
NM_001034853.2(RPGR):c.248-2A>G
|
rs62638633
|
|
|
NM_001034853.2(RPGR):c.248-6T>A
|
rs62638635
|
|
|
NM_001034853.2(RPGR):c.2480_2520dup (p.Glu841fs)
|
rs2147197209
|
|
|
NM_001034853.2(RPGR):c.2491G>T (p.Glu831Ter)
|
rs865977487
|
|
|
NM_001034853.2(RPGR):c.2501_2502del (p.Glu834fs)
|
|
|
|
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.2511GGA[1] (p.Glu839del)
|
|
|
|
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.2525_2578dup (p.Glu859_Glu860insGlyGluGluGluGluGlyGluGlyGluGluGluGluGlyGluGlyLysGlyGlu)
|
|
|
|
NM_001034853.2(RPGR):c.2527G>T (p.Glu843Ter)
|
|
|
|
NM_001034853.2(RPGR):c.2527dup (p.Glu843fs)
|
rs2067175855
|
|
|
NM_001034853.2(RPGR):c.2535_2558del (p.Glu846_Glu853del)
|
rs760332126
|
|
|
NM_001034853.2(RPGR):c.2541_2542del (p.Glu848fs)
|
|
|
|
NM_001034853.2(RPGR):c.2548G>T (p.Glu850Ter)
|
rs1601922074
|
|
|
NM_001034853.2(RPGR):c.2548del (p.Glu850fs)
|
rs2067174697
|
|
|
NM_001034853.2(RPGR):c.255del (p.Lys85fs)
|
rs1555968248
|
|
|
NM_001034853.2(RPGR):c.2562del (p.Glu855fs)
|
|
|
|
NM_001034853.2(RPGR):c.2569A>T (p.Lys857Ter)
|
|
|
|
NM_001034853.2(RPGR):c.2571_2572del (p.Glu859fs)
|
rs2067172385
|
|
|
NM_001034853.2(RPGR):c.2571del (p.Glu859fs)
|
rs1555961704
|
|
|
NM_001034853.2(RPGR):c.2589A>G (p.Glu863=)
|
|
|
|
NM_001034853.2(RPGR):c.2590G>T (p.Glu864Ter)
|
|
|
|
NM_001034853.2(RPGR):c.2594_2596del (p.Gly865del)
|
rs771584745
|
|
|
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.2606_2620del (p.Glu869_Glu873del)
|
rs200824587
|
|
|
NM_001034853.2(RPGR):c.2606_2632dup (p.860EEGEEGEGE[3])
|
rs769216492
|
|
|
NM_001034853.2(RPGR):c.2625del (p.Glu877fs)
|
|
|
|
NM_001034853.2(RPGR):c.2625dup (p.Gly876fs)
|
|
|
|
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.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[3] (p.883GEGEGEEE[3])
|
rs756520886
|
|
|
NM_001034853.2(RPGR):c.2647G>T (p.Gly883Ter)
|
rs1555961624
|
|
|
NM_001034853.2(RPGR):c.2650G>T (p.Glu884Ter)
|
rs137852549
|
|
|
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.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.2685A>G (p.Gly895=)
|
|
|
|
NM_001034853.2(RPGR):c.2689G>T (p.Glu897Ter)
|
rs2067161460
|
|
|
NM_001034853.2(RPGR):c.2691GGA[1] (p.Glu899del)
|
rs745428229
|
|
|
NM_001034853.2(RPGR):c.2695G>T (p.Glu899Ter)
|
rs2067161139
|
|
|
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.2714_2715del (p.Glu905fs)
|
rs2067160273
|
|
|
NM_001034853.2(RPGR):c.2716G>T (p.Glu906Ter)
|
|
|
|
NM_001034853.2(RPGR):c.2725G>T (p.Glu909Ter)
|
|
|
|
NM_001034853.2(RPGR):c.2730_2731del (p.Glu911fs)
|
|
|
|
NM_001034853.2(RPGR):c.2731_2757del (p.Glu911_Gly919del)
|
|
|
|
NM_001034853.2(RPGR):c.2742GGA[1] (p.Glu916del)
|
rs751721873
|
|
|
NM_001034853.2(RPGR):c.2743G>T (p.Glu915Ter)
|
|
|
|
NM_001034853.2(RPGR):c.2750_2752del (p.Gly917del)
|
|
|
|
NM_001034853.2(RPGR):c.2751A>G (p.Gly917=)
|
|
|
|
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.2777_2778del (p.Glu926fs)
|
rs1601920532
|
|
|
NM_001034853.2(RPGR):c.2782G>A (p.Gly928Arg)
|
|
|
|
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.2791del (p.Glu931fs)
|
|
|
|
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.2817_2818del (p.Glu940fs)
|
rs2147194427
|
|
|
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.2829T>G (p.Asp943Glu)
|
rs201655057
|
|
|
NM_001034853.2(RPGR):c.2838_2839del (p.Glu947fs)
|
rs1555961509
|
|
|
NM_001034853.2(RPGR):c.2845del (p.Glu949fs)
|
rs2067148119
|
|
|
NM_001034853.2(RPGR):c.2847_2852del (p.Glu951_Glu952del)
|
|
|
|
NM_001034853.2(RPGR):c.2848G>T (p.Glu950Ter)
|
rs1601919915
|
|
|
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.2864G>A (p.Trp955Ter)
|
rs1555961491
|
|
|
NM_001034853.2(RPGR):c.2877GGA[1] (p.Glu961del)
|
|
|
|
NM_001034853.2(RPGR):c.2887del (p.Glu963fs)
|
rs1064797364
|
|
|
NM_001034853.2(RPGR):c.2894del (p.Glu965fs)
|
rs2147193654
|
|
|
NM_001034853.2(RPGR):c.2899dup (p.Glu967fs)
|
rs1569235999
|
|
|
NM_001034853.2(RPGR):c.29-1G>T
|
rs2067987832
|
|
|
NM_001034853.2(RPGR):c.2901_2903del (p.Glu969del)
|
rs753744103
|
|
|
NM_001034853.2(RPGR):c.2911G>T (p.Glu971Ter)
|
|
|
|
NM_001034853.2(RPGR):c.2916_2917del (p.Glu973fs)
|
rs2067140574
|
|
|
NM_001034853.2(RPGR):c.2919_2939dup (p.970GEGEGEE[3])
|
rs772859148
|
|
|
NM_001034853.2(RPGR):c.2931AGAAGGGGAGGGGGAAGAGGAGGAAGG[1] (p.979GEGEEEEGE[1])
|
|
|
|
NM_001034853.2(RPGR):c.2937_2938del (p.Glu980fs)
|
rs2067138439
|
|
|
NM_001034853.2(RPGR):c.2943G>C (p.Gly981=)
|
|
|
|
NM_001034853.2(RPGR):c.2946A>G (p.Glu982=)
|
|
|
|
NM_001034853.2(RPGR):c.294C>A (p.His98Gln)
|
rs62638636
|
|
|
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.2971del (p.Glu991fs)
|
rs2067134254
|
|
|
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.2997_2998del (p.Glu1000fs)
|
|
|
|
NM_001034853.2(RPGR):c.299T>C (p.Leu100Pro)
|
rs1064797366
|
|
|
NM_001034853.2(RPGR):c.3027_3028del (p.Glu1010fs)
|
rs1569235565
|
|
|
NM_001034853.2(RPGR):c.3034del (p.Glu1012fs)
|
rs2067128124
|
|
|
NM_001034853.2(RPGR):c.3039_3040del (p.Glu1014fs)
|
rs2067127718
|
|
|
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.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>T (p.Glu1024Ter)
|
rs1799325384
|
|
|
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.308C>A (p.Thr103Lys)
|
|
|
|
NM_001034853.2(RPGR):c.3092_3093del (p.Glu1031fs)
|
rs606231181
|
|
|
NM_001034853.2(RPGR):c.3092del (p.Glu1031fs)
|
rs1186795749
|
|
|
NM_001034853.2(RPGR):c.310+1G>C
|
rs62638639
|
|
|
NM_001034853.2(RPGR):c.310+3A>G
|
rs62638640
|
|
|
NM_001034853.2(RPGR):c.3108_3122del (p.1033EGEEE[1])
|
rs774012136
|
|
|
NM_001034853.2(RPGR):c.311-4G>A
|
|
|
|
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.3143A>G (p.Lys1048Arg)
|
rs2147190857
|
|
|
NM_001034853.2(RPGR):c.3150_3151del (p.Glu1051fs)
|
rs2147190794
|
|
|
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.3197_3198del (p.Glu1066fs)
|
|
|
|
NM_001034853.2(RPGR):c.3212_3218del (p.Glu1071fs)
|
rs2147190470
|
|
|
NM_001034853.2(RPGR):c.3231_3234del (p.Asn1077fs)
|
|
|
|
NM_001034853.2(RPGR):c.3255del (p.Glu1084_Tyr1085insTer)
|
rs2067115815
|
|
|
NM_001034853.2(RPGR):c.3263_3266del (p.Val1088fs)
|
|
|
|
NM_001034853.2(RPGR):c.3285G>A (p.Val1095=)
|
rs1601917276
|
|
|
NM_001034853.2(RPGR):c.3308_3309del (p.Tyr1103fs)
|
|
|
|
NM_001034853.2(RPGR):c.3317A>C (p.Lys1106Thr)
|
|
|
|
NM_001034853.2(RPGR):c.3317dup (p.Ser1107fs)
|
rs886041376
|
|
|
NM_001034853.2(RPGR):c.3348A>G (p.Lys1116=)
|
|
|
|
NM_001034853.2(RPGR):c.3351G>C (p.Glu1117Asp)
|
|
|
|
NM_001034853.2(RPGR):c.3373C>T (p.Gln1125Ter)
|
rs1601917052
|
|
|
NM_001034853.2(RPGR):c.3396C>A (p.Asn1132Lys)
|
|
|
|
NM_001034853.2(RPGR):c.3413A>G (p.Lys1138Arg)
|
rs1569234937
|
|
|
NM_001034853.2(RPGR):c.3423G>A (p.Trp1141Ter)
|
|
|
|
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.360del (p.Gly122fs)
|
|
|
|
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.389T>G (p.Phe130Cys)
|
rs62638644
|
|
|
NM_001034853.2(RPGR):c.408dup (p.Thr137fs)
|
|
|
|
NM_001034853.2(RPGR):c.415G>T (p.Glu139Ter)
|
rs62638645
|
|
|
NM_001034853.2(RPGR):c.427A>T (p.Lys143Ter)
|
|
|
|
NM_001034853.2(RPGR):c.430C>T (p.Gln144Ter)
|
|
|
|
NM_001034853.2(RPGR):c.467C>T (p.Thr156Ile)
|
rs751512713
|
|
|
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.470-1G>A
|
|
|
|
NM_001034853.2(RPGR):c.485_486del (p.Phe162fs)
|
rs281865297
|
|
|
NM_001034853.2(RPGR):c.486del (p.Phe162fs)
|
rs281865297
|
|
|
NM_001034853.2(RPGR):c.492G>A (p.Trp164Ter)
|
rs62638648
|
|
|
NM_001034853.2(RPGR):c.493G>C (p.Gly165Arg)
|
rs2067847091
|
|
|
NM_001034853.2(RPGR):c.494G>T (p.Gly165Val)
|
|
|
|
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.565G>A (p.Gly189Arg)
|
rs1057523984
|
|
|
NM_001034853.2(RPGR):c.581G>A (p.Trp194Ter)
|
rs62650216
|
|
|
NM_001034853.2(RPGR):c.588T>G (p.Ser196=)
|
|
|
|
NM_001034853.2(RPGR):c.590G>A (p.Cys197Tyr)
|
|
|
|
NM_001034853.2(RPGR):c.605C>A (p.Ser202Ter)
|
rs62650217
|
|
|
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+1G>C
|
|
|
|
NM_001034853.2(RPGR):c.619+2_619+5del
|
|
|
|
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.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.657T>C (p.Asn219=)
|
|
|
|
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.730A>T (p.Lys244Ter)
|
rs62638653
|
|
|
NM_001034853.2(RPGR):c.747del (p.Cys250fs)
|
rs62650219
|
|
|
NM_001034853.2(RPGR):c.748T>C (p.Cys250Arg)
|
rs62650220
|
|
|
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.758A>G (p.Glu253Gly)
|
|
|
|
NM_001034853.2(RPGR):c.768G>A (p.Val256=)
|
|
|
|
NM_001034853.2(RPGR):c.777G>A (p.Thr259=)
|
rs794727844
|
|
|
NM_001034853.2(RPGR):c.778+1G>T
|
|
|
|
NM_001034853.2(RPGR):c.778+84dup
|
rs35587043
|
|
|
NM_001034853.2(RPGR):c.779-1G>A
|
rs62638655
|
|
|
NM_001034853.2(RPGR):c.779-5T>G
|
rs2067565504
|
|
|
NM_001034853.2(RPGR):c.783_784insA (p.Ala262fs)
|
|
|
|
NM_001034853.2(RPGR):c.799G>C (p.Gly267Arg)
|
rs2147248035
|
|
|
NM_001034853.2(RPGR):c.806G>A (p.Gly269Glu)
|
rs398123336
|
|
|
NM_001034853.2(RPGR):c.81del (p.Gly28fs)
|
|
|
|
NM_001034853.2(RPGR):c.823G>A (p.Gly275Ser)
|
rs62642057
|
|
|
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.869del (p.Glu290fs)
|
rs62640588
|
|
|
NM_001034853.2(RPGR):c.886_900del (p.Thr296_Ile300del)
|
rs62653026
|
|
|
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.931A>G (p.Thr311Ala)
|
rs62640591
|
|
|
NM_001034853.2(RPGR):c.934+1G>A
|
rs62640592
|
|
|
NM_001034853.2(RPGR):c.934+1G>C
|
rs62640592
|
|
|
NM_001034853.2(RPGR):c.935-1G>T
|
rs2067498051
|
|
|
NM_001034853.2(RPGR):c.935-2A>G
|
rs2067498092
|
|
|
NM_001034853.2(RPGR):c.957del (p.Phe319fs)
|
rs1601947074
|
|
|
NM_001034853.2(RPGR):c.958G>A (p.Gly320Arg)
|
rs62640593
|
|
|
NM_001034853.2(RPGR):c.972C>T (p.His324=)
|
|
|
|
NM_001034853.2(RPGR):c.980T>G (p.Leu327Ter)
|
rs62640594
|
|
|
NM_001034853.2(RPGR):c.994G>T (p.Glu332Ter)
|
rs62642058
|
|