NM_025114.4(CEP290):c.4813-2A>G
|
rs369523378
|
0.00046
|
NM_000329.3(RPE65):c.433G>A (p.Ala145Thr)
|
rs767528365
|
0.00012
|
NM_003322.6(TULP1):c.1496-6C>A
|
rs281865171
|
0.00010
|
NM_025114.4(CEP290):c.4437+1G>A
|
rs760915898
|
0.00009
|
NM_152443.3(RDH12):c.806C>G (p.Ala269Gly)
|
rs116802390
|
0.00007
|
NM_152443.3(RDH12):c.278T>C (p.Leu93Pro)
|
rs527800020
|
0.00005
|
NM_020366.4(RPGRIP1):c.154C>T (p.Arg52Ter)
|
rs192003551
|
0.00004
|
NM_000329.3(RPE65):c.617T>C (p.Ile206Thr)
|
rs768445391
|
0.00003
|
NM_003322.6(TULP1):c.1495+1G>A
|
rs281865168
|
0.00003
|
NM_020366.4(RPGRIP1):c.1792C>T (p.Arg598Ter)
|
rs775935766
|
0.00003
|
NM_025114.4(CEP290):c.7073_7077dup (p.His2360Ter)
|
rs1294402003
|
0.00003
|
NM_201253.3(CRB1):c.2252T>A (p.Leu751Ter)
|
rs1409490389
|
0.00003
|
NM_201253.3(CRB1):c.2291G>A (p.Arg764His)
|
rs375040930
|
0.00003
|
NM_000180.4(GUCY2D):c.2384G>A (p.Arg795Gln)
|
rs61750171
|
0.00002
|
NM_000180.4(GUCY2D):c.760G>T (p.Glu254Ter)
|
rs756730335
|
0.00002
|
NM_000329.3(RPE65):c.1355T>G (p.Val452Gly)
|
rs62637004
|
0.00002
|
NM_000329.3(RPE65):c.74C>T (p.Pro25Leu)
|
rs199683808
|
0.00002
|
NM_001122769.3(LCA5):c.652C>T (p.Arg218Ter)
|
rs1318750068
|
0.00002
|
NM_003322.6(TULP1):c.932G>A (p.Arg311Gln)
|
rs1279906432
|
0.00002
|
NM_020366.4(RPGRIP1):c.1892A>G (p.His631Arg)
|
rs535922252
|
0.00002
|
NM_025114.4(CEP290):c.223A>G (p.Lys75Glu)
|
rs779010679
|
0.00002
|
NM_025114.4(CEP290):c.7282_7283dup (p.Tyr2429fs)
|
rs767231715
|
0.00002
|
NM_152443.3(RDH12):c.481C>T (p.Arg161Trp)
|
rs759408031
|
0.00002
|
NM_201253.3(CRB1):c.2171A>G (p.Tyr724Cys)
|
rs765676754
|
0.00002
|
NM_201253.3(CRB1):c.3037C>T (p.Gln1013Ter)
|
rs143511261
|
0.00002
|
NM_201253.3(CRB1):c.3991C>T (p.Arg1331Cys)
|
rs760544654
|
0.00002
|
NM_000180.4(GUCY2D):c.1762C>T (p.Arg588Trp)
|
rs940175403
|
0.00001
|
NM_000180.4(GUCY2D):c.3224+1G>C
|
rs757823463
|
0.00001
|
NM_000329.3(RPE65):c.1249G>C (p.Glu417Gln)
|
rs62636299
|
0.00001
|
NM_000329.3(RPE65):c.484A>C (p.Thr162Pro)
|
rs774309607
|
0.00001
|
NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr)
|
rs61752883
|
0.00001
|
NM_000329.3(RPE65):c.982C>T (p.Leu328Phe)
|
rs1169420841
|
0.00001
|
NM_001122769.3(LCA5):c.1444C>T (p.Arg482Ter)
|
rs1182277140
|
0.00001
|
NM_001122769.3(LCA5):c.2T>C (p.Met1Thr)
|
rs1331645027
|
0.00001
|
NM_003322.6(TULP1):c.349G>A (p.Glu117Lys)
|
rs527236117
|
0.00001
|
NM_014336.5(AIPL1):c.276+1G>A
|
rs150097891
|
0.00001
|
NM_014336.5(AIPL1):c.364G>C (p.Gly122Arg)
|
rs201883601
|
0.00001
|
NM_020366.4(RPGRIP1):c.2236G>A (p.Gly746Arg)
|
rs535695411
|
0.00001
|
NM_020366.4(RPGRIP1):c.931-2A>G
|
rs374188857
|
0.00001
|
NM_025114.4(CEP290):c.1711+1G>A
|
rs587783009
|
0.00001
|
NM_025114.4(CEP290):c.181-2A>G
|
rs886042359
|
0.00001
|
NM_025114.4(CEP290):c.297+1G>T
|
rs878853360
|
0.00001
|
NM_025114.4(CEP290):c.2992-1G>T
|
rs2037480294
|
0.00001
|
NM_025114.4(CEP290):c.2T>A (p.Met1Lys)
|
rs368984997
|
0.00001
|
NM_025114.4(CEP290):c.3104-5T>G
|
rs1302558061
|
0.00001
|
NM_025114.4(CEP290):c.3739C>T (p.Gln1247Ter)
|
rs758878983
|
0.00001
|
NM_025114.4(CEP290):c.3G>A (p.Met1Ile)
|
rs773525033
|
0.00001
|
NM_025114.4(CEP290):c.451C>T (p.Arg151Ter)
|
rs757641323
|
0.00001
|
NM_025114.4(CEP290):c.5012+2T>C
|
rs1369768287
|
0.00001
|
NM_025114.4(CEP290):c.516+1G>A
|
rs779409629
|
0.00001
|
NM_025114.4(CEP290):c.5587-1G>C
|
rs968692633
|
0.00001
|
NM_025114.4(CEP290):c.5745dup (p.Lys1916Ter)
|
rs751361090
|
0.00001
|
NM_025114.4(CEP290):c.5941G>T (p.Glu1981Ter)
|
rs767426153
|
0.00001
|
NM_025114.4(CEP290):c.6358-1G>A
|
rs766670248
|
0.00001
|
NM_025114.4(CEP290):c.7324G>T (p.Glu2442Ter)
|
rs1374014119
|
0.00001
|
NM_152443.3(RDH12):c.407C>T (p.Thr136Ile)
|
rs1206574200
|
0.00001
|
NM_152443.3(RDH12):c.464C>T (p.Thr155Ile)
|
rs121434337
|
0.00001
|
NM_152443.3(RDH12):c.910T>C (p.Trp304Arg)
|
rs878853339
|
0.00001
|
NM_201253.3(CRB1):c.1360G>A (p.Gly454Arg)
|
rs954595597
|
0.00001
|
NM_201253.3(CRB1):c.1831T>C (p.Ser611Pro)
|
rs769909288
|
0.00001
|
NM_201253.3(CRB1):c.1892A>G (p.Tyr631Cys)
|
rs1271816211
|
0.00001
|
NM_201253.3(CRB1):c.2549G>T (p.Gly850Val)
|
rs757137398
|
0.00001
|
NM_201253.3(CRB1):c.2842+5G>A
|
rs773914330
|
0.00001
|
NM_201253.3(CRB1):c.3017C>T (p.Ser1006Phe)
|
rs878853367
|
0.00001
|
NM_201253.3(CRB1):c.3320T>C (p.Leu1107Pro)
|
rs62636276
|
0.00001
|
NM_201253.3(CRB1):c.3419T>A (p.Leu1140Ter)
|
rs1342970033
|
0.00001
|
NM_201253.3(CRB1):c.3652T>A (p.Cys1218Ser)
|
rs968499207
|
0.00001
|
NM_201253.3(CRB1):c.3686G>C (p.Cys1229Ser)
|
rs1031415706
|
0.00001
|
NM_201253.3(CRB1):c.3997G>A (p.Glu1333Lys)
|
rs137853136
|
0.00001
|
NM_201253.3(CRB1):c.4006-10A>G
|
rs766850702
|
0.00001
|
NM_000180.4(GUCY2D):c.1341dup (p.Ser448fs)
|
|
|
NM_000180.4(GUCY2D):c.1378+1G>T
|
|
|
NM_000180.4(GUCY2D):c.1956+1G>A
|
|
|
NM_000180.4(GUCY2D):c.2260G>T (p.Glu754Ter)
|
rs747951577
|
|
NM_000180.4(GUCY2D):c.2515_2522del (p.Thr839fs)
|
|
|
NM_000180.4(GUCY2D):c.3127del (p.Thr1043fs)
|
|
|
NM_000180.4(GUCY2D):c.856_876dup (p.Ser286_Leu292dup)
|
rs2151799690
|
|
NM_000329.3(RPE65):c.1088C>T (p.Pro363Leu)
|
rs1158240863
|
|
NM_000329.3(RPE65):c.1244-1G>A
|
|
|
NM_000329.3(RPE65):c.1293C>A (p.Tyr431Ter)
|
rs1289316104
|
|
NM_000329.3(RPE65):c.1338+1G>A
|
rs1057518922
|
|
NM_000329.3(RPE65):c.1416del (p.Phe472fs)
|
|
|
NM_000329.3(RPE65):c.143G>A (p.Gly48Glu)
|
rs2100831413
|
|
NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp)
|
rs62653015
|
|
NM_000329.3(RPE65):c.246-11A>G
|
rs905365719
|
|
NM_000329.3(RPE65):c.304G>A (p.Glu102Lys)
|
rs62642584
|
|
NM_000329.3(RPE65):c.41_42del (p.Lys14fs)
|
|
|
NM_000329.3(RPE65):c.540C>A (p.His180Gln)
|
rs2100821857
|
|
NM_000329.3(RPE65):c.61del (p.Glu21fs)
|
rs758550330
|
|
NM_000329.3(RPE65):c.718G>T (p.Val240Phe)
|
rs192907397
|
|
NM_000329.3(RPE65):c.726-2A>T
|
rs878853372
|
|
NM_001122769.3(LCA5):c.1000C>T (p.Gln334Ter)
|
|
|
NM_001122769.3(LCA5):c.1273del (p.Ala425fs)
|
rs1414684440
|
|
NM_001122769.3(LCA5):c.1525_1526del (p.Tyr509fs)
|
|
|
NM_001122769.3(LCA5):c.1A>T (p.Met1Leu)
|
|
|
NM_001122769.3(LCA5):c.37del (p.Glu13fs)
|
rs2127683029
|
|
NM_001122769.3(LCA5):c.644del (p.Leu215fs)
|
|
|
NM_001122769.3(LCA5):c.744_750del (p.Ser249fs)
|
rs1769904494
|
|
NM_001122769.3(LCA5):c.964C>T (p.Gln322Ter)
|
|
|
NM_001164688.2(RD3):c.265del (p.His89fs)
|
|
|
NM_003322.6(TULP1):c.1102G>T (p.Gly368Trp)
|
rs387906837
|
|
NM_003322.6(TULP1):c.1255del (p.Arg419fs)
|
rs1387418594
|
|
NM_003322.6(TULP1):c.1388del (p.Asn463fs)
|
rs1581736024
|
|
NM_003322.6(TULP1):c.1445G>T (p.Arg482Leu)
|
|
|
NM_003322.6(TULP1):c.715_718del (p.Lys239fs)
|
|
|
NM_003322.6(TULP1):c.806_807dup (p.Gly270fs)
|
|
|
NM_003322.6(TULP1):c.821del (p.Lys274fs)
|
rs774204108
|
|
NM_003322.6(TULP1):c.822+1G>A
|
|
|
NM_003322.6(TULP1):c.961T>G (p.Tyr321Asp)
|
rs794726991
|
|
NM_003322.6(TULP1):c.963T>G (p.Tyr321Ter)
|
|
|
NM_018418.5(SPATA7):c.1199_1203del (p.Asn400fs)
|
rs1436269510
|
|
NM_020366.4(RPGRIP1):c.14_29dup (p.Asp11fs)
|
rs1181453325
|
|
NM_020366.4(RPGRIP1):c.1583_1596del (p.Leu528fs)
|
|
|
NM_020366.4(RPGRIP1):c.1612-2A>G
|
|
|
NM_020366.4(RPGRIP1):c.2386del (p.Glu796fs)
|
|
|
NM_020366.4(RPGRIP1):c.2795dup (p.Pro932_Glu933insTer)
|
|
|
NM_020366.4(RPGRIP1):c.326G>A (p.Trp109Ter)
|
|
|
NM_020366.4(RPGRIP1):c.410dup (p.Arg138fs)
|
|
|
NM_025114.4(CEP290):c.102+2T>G
|
rs763226787
|
|
NM_025114.4(CEP290):c.1042del (p.Ser348fs)
|
|
|
NM_025114.4(CEP290):c.1060C>T (p.Gln354Ter)
|
rs2138021345
|
|
NM_025114.4(CEP290):c.1254_1255del (p.Lys419fs)
|
rs897997464
|
|
NM_025114.4(CEP290):c.1258dup (p.Thr420fs)
|
rs868650061
|
|
NM_025114.4(CEP290):c.1274_1275del (p.Arg425fs)
|
|
|
NM_025114.4(CEP290):c.1359+1G>A
|
rs935130451
|
|
NM_025114.4(CEP290):c.1360-1G>C
|
rs2501054131
|
|
NM_025114.4(CEP290):c.1451del (p.Lys484fs)
|
rs386834149
|
|
NM_025114.4(CEP290):c.1521_1522+2dup
|
|
|
NM_025114.4(CEP290):c.1624-1G>C
|
|
|
NM_025114.4(CEP290):c.1711G>T (p.Gly571Ter)
|
|
|
NM_025114.4(CEP290):c.1750del (p.Ser584fs)
|
rs780954447
|
|
NM_025114.4(CEP290):c.175dup (p.Met59fs)
|
|
|
NM_025114.4(CEP290):c.1775del (p.Arg592fs)
|
|
|
NM_025114.4(CEP290):c.1790T>A (p.Leu597Ter)
|
rs2500867184
|
|
NM_025114.4(CEP290):c.180+1G>A
|
rs758593134
|
|
NM_025114.4(CEP290):c.1915G>T (p.Glu639Ter)
|
rs1555220625
|
|
NM_025114.4(CEP290):c.2052+1G>A
|
rs2038915208
|
|
NM_025114.4(CEP290):c.2139_2148del (p.Glu713fs)
|
|
|
NM_025114.4(CEP290):c.2194C>T (p.Gln732Ter)
|
rs1438792443
|
|
NM_025114.4(CEP290):c.2267C>A (p.Ser756Ter)
|
|
|
NM_025114.4(CEP290):c.2268_2284del (p.Asn757_Val758insTer)
|
rs2500742395
|
|
NM_025114.4(CEP290):c.2483+1G>A
|
rs2137661795
|
|
NM_025114.4(CEP290):c.2594_2595del (p.Leu865fs)
|
rs1221464366
|
|
NM_025114.4(CEP290):c.2632del (p.Ile878fs)
|
rs1404507934
|
|
NM_025114.4(CEP290):c.2719G>T (p.Glu907Ter)
|
|
|
NM_025114.4(CEP290):c.2737_2741del (p.Lys912_Glu913insTer)
|
|
|
NM_025114.4(CEP290):c.274_280del (p.Met92fs)
|
rs2138258171
|
|
NM_025114.4(CEP290):c.2854del (p.Val952fs)
|
|
|
NM_025114.4(CEP290):c.2941C>T (p.Gln981Ter)
|
rs1057518822
|
|
NM_025114.4(CEP290):c.3085G>T (p.Glu1029Ter)
|
rs2137423759
|
|
NM_025114.4(CEP290):c.3085del (p.Glu1029fs)
|
|
|
NM_025114.4(CEP290):c.3200T>A (p.Leu1067Ter)
|
|
|
NM_025114.4(CEP290):c.3240T>A (p.Tyr1080Ter)
|
rs886042467
|
|
NM_025114.4(CEP290):c.3240T>G (p.Tyr1080Ter)
|
rs886042467
|
|
NM_025114.4(CEP290):c.3285del (p.Phe1095fs)
|
rs1017496924
|
|
NM_025114.4(CEP290):c.3290dup (p.Leu1097fs)
|
|
|
NM_025114.4(CEP290):c.3377_3378dup (p.Ser1127Ter)
|
|
|
NM_025114.4(CEP290):c.341del (p.Arg114fs)
|
|
|
NM_025114.4(CEP290):c.3488_3494dup (p.Val1166fs)
|
rs2036977719
|
|
NM_025114.4(CEP290):c.3577C>T (p.Gln1193Ter)
|
rs2500121621
|
|
NM_025114.4(CEP290):c.3589A>T (p.Lys1197Ter)
|
|
|
NM_025114.4(CEP290):c.369del (p.Gln123fs)
|
rs773622064
|
|
NM_025114.4(CEP290):c.3736G>T (p.Glu1246Ter)
|
rs2500112760
|
|
NM_025114.4(CEP290):c.3911_3915del (p.Met1304fs)
|
rs2500101115
|
|
NM_025114.4(CEP290):c.4092del (p.Glu1364fs)
|
|
|
NM_025114.4(CEP290):c.4195-2del
|
|
|
NM_025114.4(CEP290):c.441+1G>A
|
rs1184012636
|
|
NM_025114.4(CEP290):c.442-1G>A
|
rs2040047006
|
|
NM_025114.4(CEP290):c.4621del (p.Thr1541fs)
|
rs587779733
|
|
NM_025114.4(CEP290):c.4677T>G (p.Tyr1559Ter)
|
rs2137182509
|
|
NM_025114.4(CEP290):c.4695del (p.Ala1566fs)
|
|
|
NM_025114.4(CEP290):c.4714_4715del (p.Glu1572fs)
|
rs2499974587
|
|
NM_025114.4(CEP290):c.4737del (p.Asp1580fs)
|
rs1304430926
|
|
NM_025114.4(CEP290):c.4834_4835del (p.Thr1612fs)
|
rs1207944612
|
|
NM_025114.4(CEP290):c.4855dup (p.His1619fs)
|
rs2499960522
|
|
NM_025114.4(CEP290):c.4943C>G (p.Ser1648Ter)
|
rs2499957266
|
|
NM_025114.4(CEP290):c.4957A>T (p.Arg1653Ter)
|
|
|
NM_025114.4(CEP290):c.4983del (p.Lys1661_Val1662insTer)
|
rs879447211
|
|
NM_025114.4(CEP290):c.5073del (p.Lys1691fs)
|
|
|
NM_025114.4(CEP290):c.5125C>T (p.Gln1709Ter)
|
|
|
NM_025114.4(CEP290):c.5235_5238del (p.Ser1745fs)
|
rs775969711
|
|
NM_025114.4(CEP290):c.5364+1G>A
|
|
|
NM_025114.4(CEP290):c.5441_5444del (p.Asn1813_Ser1814insTer)
|
|
|
NM_025114.4(CEP290):c.5482_5483del (p.Lys1828fs)
|
|
|
NM_025114.4(CEP290):c.5586+1G>T
|
rs2035880971
|
|
NM_025114.4(CEP290):c.5659C>T (p.Gln1887Ter)
|
|
|
NM_025114.4(CEP290):c.5709+2T>G
|
rs2499838601
|
|
NM_025114.4(CEP290):c.5710-2A>G
|
|
|
NM_025114.4(CEP290):c.5735G>A (p.Trp1912Ter)
|
|
|
NM_025114.4(CEP290):c.5754G>A (p.Trp1918Ter)
|
rs2499744201
|
|
NM_025114.4(CEP290):c.5776C>T (p.Arg1926Ter)
|
rs561598805
|
|
NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro)
|
rs778030031
|
|
NM_025114.4(CEP290):c.5788_5792del (p.Lys1930fs)
|
rs2035400071
|
|
NM_025114.4(CEP290):c.583_584del (p.Leu195fs)
|
rs1277316340
|
|
NM_025114.4(CEP290):c.584del (p.Leu195fs)
|
rs1277316340
|
|
NM_025114.4(CEP290):c.5881C>T (p.Gln1961Ter)
|
|
|
NM_025114.4(CEP290):c.5909_5910dup (p.Val1971fs)
|
|
|
NM_025114.4(CEP290):c.6084_6085del (p.Lys2028fs)
|
rs2136911405
|
|
NM_025114.4(CEP290):c.6270+1G>A
|
|
|
NM_025114.4(CEP290):c.6271-1G>A
|
rs2034579709
|
|
NM_025114.4(CEP290):c.6357+1G>A
|
rs1196938557
|
|
NM_025114.4(CEP290):c.6358-2A>C
|
|
|
NM_025114.4(CEP290):c.6397dup (p.Thr2133fs)
|
rs2499571369
|
|
NM_025114.4(CEP290):c.6400_6403dup (p.Gly2135fs)
|
|
|
NM_025114.4(CEP290):c.6417del (p.Lys2139_Val2140insTer)
|
|
|
NM_025114.4(CEP290):c.6448_6455del (p.Gln2150fs)
|
rs1364945778
|
|
NM_025114.4(CEP290):c.6514A>T (p.Lys2172Ter)
|
|
|
NM_025114.4(CEP290):c.6516del (p.Lys2172fs)
|
rs1057519165
|
|
NM_025114.4(CEP290):c.6818_6818+1dup
|
rs1060499781
|
|
NM_025114.4(CEP290):c.6960+1G>A
|
|
|
NM_025114.4(CEP290):c.7153del (p.Lys2384_Ile2385insTer)
|
rs781310385
|
|
NM_025114.4(CEP290):c.7198C>T (p.Gln2400Ter)
|
rs1478582091
|
|
NM_025114.4(CEP290):c.7220_7223del (p.Lys2407fs)
|
rs763762899
|
|
NM_025114.4(CEP290):c.7233dup (p.Glu2412fs)
|
rs2033254449
|
|
NM_025114.4(CEP290):c.7256del (p.Ser2419fs)
|
|
|
NM_025114.4(CEP290):c.725del (p.Asn242fs)
|
|
|
NM_025114.4(CEP290):c.7263del (p.Phe2421fs)
|
rs1219184437
|
|
NM_025114.4(CEP290):c.7263dup (p.Glu2422Ter)
|
rs1219184437
|
|
NM_025114.4(CEP290):c.7283_7286dup (p.Tyr2429Ter)
|
rs773642187
|
|
NM_025114.4(CEP290):c.829G>T (p.Glu277Ter)
|
rs45502896
|
|
NM_025114.4(CEP290):c.829_833del (p.Glu277fs)
|
|
|
NM_025114.4(CEP290):c.852del (p.Val285fs)
|
|
|
NM_025114.4(CEP290):c.992del (p.Leu331fs)
|
|
|
NM_152443.3(RDH12):c.148G>A (p.Gly50Ser)
|
rs2140141345
|
|
NM_152443.3(RDH12):c.16G>T (p.Gly6Ter)
|
|
|
NM_152443.3(RDH12):c.440A>C (p.Asn147Thr)
|
rs1566847499
|
|
NM_152443.3(RDH12):c.659-2A>T
|
rs2038231425
|
|
NM_152443.3(RDH12):c.661_666delinsCCTCTTT (p.Thr221fs)
|
|
|
NM_152443.3(RDH12):c.680_684delinsT (p.Ala227fs)
|
|
|
NM_152443.3(RDH12):c.693_694insACTGCGTCCGCTCTGAGCTGGC (p.Val232fs)
|
|
|
NM_152443.3(RDH12):c.697G>A (p.Val233Ile)
|
rs140257538
|
|
NM_152443.3(RDH12):c.716G>A (p.Arg239Gln)
|
rs1239043055
|
|
NM_152443.3(RDH12):c.848+2T>C
|
rs878853338
|
|
NM_201253.3(CRB1):c.1148G>A (p.Cys383Tyr)
|
rs62645754
|
|
NM_201253.3(CRB1):c.1172-1G>A
|
|
|
NM_201253.3(CRB1):c.1313G>A (p.Cys438Tyr)
|
rs1571522690
|
|
NM_201253.3(CRB1):c.1405T>G (p.Cys469Gly)
|
rs2528105698
|
|
NM_201253.3(CRB1):c.1445_1453del (p.Ile482_Thr484del)
|
rs780580887
|
|
NM_201253.3(CRB1):c.1651C>T (p.Gln551Ter)
|
rs768107603
|
|
NM_201253.3(CRB1):c.1690G>T (p.Asp564Tyr)
|
rs757279881
|
|
NM_201253.3(CRB1):c.1743_1755dup (p.Ser586fs)
|
rs751935649
|
|
NM_201253.3(CRB1):c.1881_1885dup (p.Asn629fs)
|
|
|
NM_201253.3(CRB1):c.2129-1G>A
|
rs1664642051
|
|
NM_201253.3(CRB1):c.2258T>C (p.Leu753Pro)
|
rs896160584
|
|
NM_201253.3(CRB1):c.2272A>T (p.Ser758Cys)
|
rs201700675
|
|
NM_201253.3(CRB1):c.2425C>T (p.Gln809Ter)
|
rs1571540037
|
|
NM_201253.3(CRB1):c.2639A>G (p.Asn880Ser)
|
rs910489135
|
|
NM_201253.3(CRB1):c.2677-2A>G
|
|
|
NM_201253.3(CRB1):c.2816G>A (p.Cys939Tyr)
|
|
|
NM_201253.3(CRB1):c.3014A>T (p.Asp1005Val)
|
rs369184026
|
|
NM_201253.3(CRB1):c.3055_3057delinsGCAATTGACA (p.Tyr1019fs)
|
|
|
NM_201253.3(CRB1):c.3296del (p.Thr1099fs)
|
|
|
NM_201253.3(CRB1):c.3299T>G (p.Ile1100Arg)
|
rs62635659
|
|
NM_201253.3(CRB1):c.3375del (p.Leu1126fs)
|
|
|
NM_201253.3(CRB1):c.358C>T (p.Gln120Ter)
|
rs1658671768
|
|
NM_201253.3(CRB1):c.3621del (p.Gly1208fs)
|
|
|
NM_201253.3(CRB1):c.3896del (p.Asp1299fs)
|
rs2125513602
|
|
NM_201253.3(CRB1):c.3926del (p.Gly1309fs)
|
|
|
NM_201253.3(CRB1):c.3961T>G (p.Cys1321Gly)
|
rs62635649
|
|
NM_201253.3(CRB1):c.4182G>A (p.Trp1394Ter)
|
|
|
NM_201253.3(CRB1):c.4207G>C (p.Glu1403Gln)
|
rs1667269806
|
|
NM_201253.3(CRB1):c.441_444del (p.Asp148fs)
|
rs1571848688
|
|
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del)
|
rs398124615
|
|
NM_201253.3(CRB1):c.57dup (p.Ile20fs)
|
rs1343680080
|
|
NM_201253.3(CRB1):c.652+1G>A
|
rs2125304900
|
|