NM_019098.5(CNGB3):c.1148del (p.Thr383fs)
|
rs397515360
|
0.00183
|
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln)
|
rs147876778
|
0.00119
|
NM_001298.3(CNGA3):c.682G>A (p.Glu228Lys)
|
rs147415641
|
0.00049
|
NM_001298.3(CNGA3):c.1279C>T (p.Arg427Cys)
|
rs141386891
|
0.00036
|
NM_001298.3(CNGA3):c.967G>C (p.Ala323Pro)
|
rs146195955
|
0.00033
|
NM_001298.3(CNGA3):c.811C>G (p.Pro271Ala)
|
rs149802213
|
0.00022
|
NM_001298.3(CNGA3):c.1694C>T (p.Thr565Met)
|
rs201747279
|
0.00019
|
NM_001298.3(CNGA3):c.101+1G>A
|
rs147118493
|
0.00014
|
NM_001298.3(CNGA3):c.1669G>A (p.Gly557Arg)
|
rs104893615
|
0.00012
|
NM_006205.3(PDE6H):c.35C>G (p.Ser12Ter)
|
rs200311463
|
0.00012
|
NM_001298.3(CNGA3):c.848G>A (p.Arg283Gln)
|
rs104893614
|
0.00010
|
NM_001298.3(CNGA3):c.667C>T (p.Arg223Trp)
|
rs138958917
|
0.00008
|
NM_001298.3(CNGA3):c.829C>T (p.Arg277Cys)
|
rs104893620
|
0.00007
|
NM_019098.5(CNGB3):c.1006G>T (p.Glu336Ter)
|
rs373862340
|
0.00007
|
NM_006204.4(PDE6C):c.85C>T (p.Arg29Trp)
|
rs121918537
|
0.00006
|
NM_007348.4(ATF6):c.970C>T (p.Arg324Cys)
|
rs761357250
|
0.00006
|
NM_001298.3(CNGA3):c.1228C>T (p.Arg410Trp)
|
rs137852608
|
0.00004
|
NM_001298.3(CNGA3):c.1585G>A (p.Val529Met)
|
rs104893619
|
0.00004
|
NM_001298.3(CNGA3):c.1688G>A (p.Arg563His)
|
rs552069173
|
0.00004
|
NM_001377295.2(GNAT2):c.481C>T (p.Arg161Ter)
|
rs745308973
|
0.00004
|
NM_006204.4(PDE6C):c.1579C>T (p.Arg527Ter)
|
rs1028838062
|
0.00004
|
NM_145200.5(CABP4):c.646C>T (p.Arg216Ter)
|
rs150115958
|
0.00004
|
NM_001298.3(CNGA3):c.1306C>T (p.Arg436Trp)
|
rs104893621
|
0.00003
|
NM_001298.3(CNGA3):c.67C>T (p.Arg23Ter)
|
rs777509481
|
0.00003
|
NM_019098.5(CNGB3):c.607C>T (p.Arg203Ter)
|
rs267606739
|
0.00003
|
NM_001298.3(CNGA3):c.1642G>A (p.Gly548Arg)
|
rs781227859
|
0.00002
|
NM_001298.3(CNGA3):c.450-1G>A
|
rs754158805
|
0.00002
|
NM_001298.3(CNGA3):c.62C>G (p.Ser21Ter)
|
rs1402442627
|
0.00002
|
NM_001298.3(CNGA3):c.830G>A (p.Arg277His)
|
rs778114016
|
0.00002
|
NM_001298.3(CNGA3):c.847C>T (p.Arg283Trp)
|
rs104893613
|
0.00002
|
NM_006204.4(PDE6C):c.775C>T (p.Arg259Ter)
|
rs757622521
|
0.00002
|
NM_019098.5(CNGB3):c.1432C>T (p.Arg478Ter)
|
rs201320564
|
0.00002
|
NM_019098.5(CNGB3):c.1578+1G>A
|
rs372006750
|
0.00002
|
NM_019098.5(CNGB3):c.1663-1205G>A
|
rs1000861056
|
0.00002
|
NM_019098.5(CNGB3):c.646C>T (p.Arg216Ter)
|
rs768345097
|
0.00002
|
NM_001298.3(CNGA3):c.1114C>T (p.Pro372Ser)
|
rs1464167194
|
0.00001
|
NM_001298.3(CNGA3):c.1315C>T (p.Arg439Trp)
|
rs749842881
|
0.00001
|
NM_001298.3(CNGA3):c.1320G>A (p.Trp440Ter)
|
rs1553450764
|
0.00001
|
NM_001298.3(CNGA3):c.1717T>C (p.Tyr573His)
|
rs1330420689
|
0.00001
|
NM_001298.3(CNGA3):c.1768G>A (p.Glu590Lys)
|
rs763041373
|
0.00001
|
NM_001298.3(CNGA3):c.1777G>A (p.Glu593Lys)
|
rs774676415
|
0.00001
|
NM_001298.3(CNGA3):c.488C>T (p.Pro163Leu)
|
rs104893612
|
0.00001
|
NM_001298.3(CNGA3):c.513G>A (p.Trp171Ter)
|
rs762773298
|
0.00001
|
NM_001377295.2(GNAT2):c.313C>T (p.Arg105Ter)
|
rs1403825722
|
0.00001
|
NM_001377295.2(GNAT2):c.937C>T (p.Arg313Ter)
|
rs748981899
|
0.00001
|
NM_006204.4(PDE6C):c.211G>T (p.Glu71Ter)
|
rs756324901
|
0.00001
|
NM_006204.4(PDE6C):c.712C>T (p.Arg238Ter)
|
rs762426409
|
0.00001
|
NM_019098.5(CNGB3):c.1063C>T (p.Arg355Ter)
|
rs764742792
|
0.00001
|
NM_019098.5(CNGB3):c.1207C>T (p.Arg403Ter)
|
rs770786127
|
0.00001
|
NM_019098.5(CNGB3):c.1255G>T (p.Glu419Ter)
|
rs372302139
|
0.00001
|
NM_019098.5(CNGB3):c.1810C>T (p.Arg604Ter)
|
rs200805087
|
0.00001
|
NM_019098.5(CNGB3):c.2T>C (p.Met1Thr)
|
rs1554619514
|
0.00001
|
NM_019098.5(CNGB3):c.644-1G>C
|
rs201794629
|
0.00001
|
NM_019098.5(CNGB3):c.756C>G (p.Tyr252Ter)
|
rs371318766
|
0.00001
|
NM_019098.5(CNGB3):c.852+1G>C
|
rs1201521544
|
0.00001
|
NC_000002.12:g.98393909_98399093del
|
|
|
NC_000008.11:g.86688947_86688948ins[MF045863.1:g.1_36978]
|
|
|
NC_000008.11:g.86711345_86711346ins[MF045864.2:g.1_98770]
|
|
|
NC_000023.11:g.(154153459_154153462)_(154154925_154154928)del
|
|
|
NM_000513.2(OPN1MW):c.529T>C (p.Trp177Arg)
|
rs267606927
|
|
NM_000513.2(OPN1MW):c.607T>C (p.Cys203Arg)
|
rs104894914
|
|
NM_000513.2(OPN1MW):c.807_948del (p.Met269fs)
|
rs2148787747
|
|
NM_001024630.4(RUNX2):c.*3160G>T
|
rs1200428
|
|
NM_001298.3(CNGA3):c.1116del (p.Pro372_Val373insTer)
|
rs958089715
|
|
NM_001298.3(CNGA3):c.1217T>C (p.Met406Thr)
|
rs1553450734
|
|
NM_001298.3(CNGA3):c.1235_1236del (p.Glu412fs)
|
rs1692914478
|
|
NM_001298.3(CNGA3):c.1255T>C (p.Ser419Pro)
|
rs371558158
|
|
NM_001298.3(CNGA3):c.1294del (p.Asp432fs)
|
rs1574391103
|
|
NM_001298.3(CNGA3):c.130_151dup (p.Ala51fs)
|
rs1558811557
|
|
NM_001298.3(CNGA3):c.1310_1312delinsAG (p.Val437fs)
|
rs1558820471
|
|
NM_001298.3(CNGA3):c.1320del (p.Trp440fs)
|
rs1553450762
|
|
NM_001298.3(CNGA3):c.1443dup (p.Ile482fs)
|
|
|
NM_001298.3(CNGA3):c.1519del (p.Asp507fs)
|
rs745592705
|
|
NM_001298.3(CNGA3):c.1573G>A (p.Gly525Ser)
|
rs786205532
|
|
NM_001298.3(CNGA3):c.1641C>A (p.Phe547Leu)
|
rs104893617
|
|
NM_001298.3(CNGA3):c.1749del (p.Leu584fs)
|
rs2104250161
|
|
NM_001298.3(CNGA3):c.332_333delinsAA (p.Ser111Ter)
|
rs1692508715
|
|
NM_001298.3(CNGA3):c.340G>T (p.Glu114Ter)
|
rs1692509021
|
|
NM_001298.3(CNGA3):c.464del (p.Lys155fs)
|
rs2104229154
|
|
NM_001298.3(CNGA3):c.499del (p.Leu167fs)
|
rs1692739030
|
|
NM_001298.3(CNGA3):c.560T>C (p.Ile187Thr)
|
rs1574385431
|
|
NM_001298.3(CNGA3):c.667C>G (p.Arg223Gly)
|
rs138958917
|
|
NM_001298.3(CNGA3):c.674-1G>A
|
rs949254623
|
|
NM_001298.3(CNGA3):c.704A>T (p.Asp235Val)
|
rs1692898861
|
|
NM_001298.3(CNGA3):c.77del (p.Asn26fs)
|
rs2104175554
|
|
NM_001298.3(CNGA3):c.872C>G (p.Thr291Arg)
|
rs104893616
|
|
NM_001298.3(CNGA3):c.902_903delinsAA (p.Phe301Ter)
|
rs1692904914
|
|
NM_001298.3(CNGA3):c.934ATC[2] (p.Ile314del)
|
rs777878533
|
|
NM_001298.3(CNGA3):c.985G>T (p.Gly329Cys)
|
rs1558820134
|
|
NM_001377295.2(GNAT2):c.235C>T (p.Gln79Ter)
|
rs121434585
|
|
NM_001377295.2(GNAT2):c.285_291delinsCTGTAT (p.Ala96fs)
|
rs1557920291
|
|
NM_001377295.2(GNAT2):c.303+365_461+974del
|
|
|
NM_001377295.2(GNAT2):c.303+365_461+974dup
|
|
|
NM_001377295.2(GNAT2):c.461+24G>A
|
rs397515384
|
|
NM_001377295.2(GNAT2):c.503dup (p.Pro169_Ser170insTer)
|
rs1557918911
|
|
NM_001377295.2(GNAT2):c.591-2A>C
|
rs1557918638
|
|
NM_001377295.2(GNAT2):c.605G>A (p.Gly202Glu)
|
rs1570562309
|
|
NM_001377295.2(GNAT2):c.720+2T>C
|
rs1557918544
|
|
NM_001377295.2(GNAT2):c.803_806dup (p.Lys270fs)
|
rs1557917899
|
|
NM_001377295.2(GNAT2):c.842_843insTCAG (p.His282fs)
|
rs2101121827
|
|
NM_001377295.2(GNAT2):c.955del (p.Ile319fs)
|
rs1557917535
|
|
NM_006204.4(PDE6C):c.1269+1G>A
|
rs1554889905
|
|
NM_006204.4(PDE6C):c.1336G>T (p.Glu446Ter)
|
|
|
NM_006204.4(PDE6C):c.2036+2T>G
|
rs1589704707
|
|
NM_006204.4(PDE6C):c.2192G>A (p.Trp731Ter)
|
rs1589705946
|
|
NM_006204.4(PDE6C):c.2283+1G>T
|
rs760343056
|
|
NM_006204.4(PDE6C):c.2367+1_2367+5del
|
rs796051871
|
|
NM_006204.4(PDE6C):c.435G>A (p.Trp145Ter)
|
rs1589690942
|
|
NM_006204.4(PDE6C):c.480+1del
|
|
|
NM_006204.4(PDE6C):c.480G>T (p.Lys160Asn)
|
rs765296989
|
|
NM_006204.4(PDE6C):c.497del (p.Asp166fs)
|
rs1554888848
|
|
NM_006204.4(PDE6C):c.78del (p.Lys27fs)
|
rs1554888353
|
|
NM_006204.4(PDE6C):c.857del (p.Lys286fs)
|
rs1554888978
|
|
NM_007348.3(ATF6):c.160dup (p.Glu54Glyfs)
|
rs1553227755
|
|
NM_007348.3(ATF6):c.355dup
|
rs869320751
|
|
NM_007348.3:c.355_356dupG
|
|
|
NM_007348.4(ATF6):c.1110dup (p.Val371fs)
|
rs797045174
|
|
NM_007348.4(ATF6):c.1187+5G>C
|
rs761129859
|
|
NM_007348.4(ATF6):c.1533+1G>C
|
rs797045172
|
|
NM_007348.4(ATF6):c.1699T>A (p.Tyr567Asn)
|
rs796065053
|
|
NM_007348.4(ATF6):c.353del (p.Pro118fs)
|
rs797045171
|
|
NM_007348.4(ATF6):c.3G>T (p.Met1Ile)
|
rs915211840
|
|
NM_007348.4(ATF6):c.709C>T (p.Gln237Ter)
|
rs1571143590
|
|
NM_007348.4(ATF6):c.797dup (p.Pro266_Asn267insTer)
|
rs797045173
|
|
NM_007348.4(ATF6):c.82+5G>T
|
rs797045170
|
|
NM_007348.4(ATF6):c.949C>T (p.Arg317Ter)
|
rs146640460
|
|
NM_019098.4(CNGB3):c.(1578+1_1579-1)_(*1_?)del
|
|
|
NM_019098.4(CNGB3):c.(338+1_339-1)_(*1_?)del
|
|
|
NM_019098.4(CNGB3):c.(?_-1)_(129+1_130-1)del
|
|
|
NM_019098.4(CNGB3):c.1430_1431delinsC (p.Lys477fs)
|
rs1554610279
|
|
NM_019098.4(CNGB3):c.1534delinsGT (p.Ile512fs)
|
rs1554609956
|
|
NM_019098.4(CNGB3):c.393_394delinsTCCTGGTGA (p.Gln131fs)
|
rs1554614423
|
|
NM_019098.4(CNGB3):c.702_706delinsGTTTTT (p.Cys234fs)
|
rs1554614024
|
|
NM_019098.4(CNGB3):c.706delinsTT (p.Ile236fs)
|
rs1554614022
|
|
NM_019098.4(CNGB3):c.852+4013_903+1698dup
|
|
|
NM_019098.4(CNGB3):c.873delinsCAAAC (p.Arg291fs)
|
rs1554612806
|
|
NM_019098.4(CNGB3):c.904-2824_1782-8208delins[KY923049.1:g.1_466]
|
|
|
NM_019098.5(CNGB3):c.1005dup (p.Glu336Ter)
|
rs1554611860
|
|
NM_019098.5(CNGB3):c.1055+1G>C
|
rs1823261605
|
|
NM_019098.5(CNGB3):c.1056-2A>G
|
rs1385347376
|
|
NM_019098.5(CNGB3):c.105_114del (p.Gln36fs)
|
rs1586047969
|
|
NM_019098.5(CNGB3):c.1119G>A (p.Trp373Ter)
|
rs786204762
|
|
NM_019098.5(CNGB3):c.112C>T (p.Gln38Ter)
|
rs786204498
|
|
NM_019098.5(CNGB3):c.1155G>A (p.Trp385Ter)
|
|
|
NM_019098.5(CNGB3):c.1178+5G>T
|
rs1823236444
|
|
NM_019098.5(CNGB3):c.1190_1192del (p.Cys397del)
|
rs765574129
|
|
NM_019098.5(CNGB3):c.1194T>G (p.Tyr398Ter)
|
rs775038513
|
|
NM_019098.5(CNGB3):c.1243C>T (p.Gln415Ter)
|
rs1554610668
|
|
NM_019098.5(CNGB3):c.1285del (p.Ser429fs)
|
rs776896038
|
|
NM_019098.5(CNGB3):c.1285dup (p.Ser429fs)
|
rs776896038
|
|
NM_019098.5(CNGB3):c.129+2T>C
|
rs1554619498
|
|
NM_019098.5(CNGB3):c.1299_1300del (p.Phe434fs)
|
rs1554610655
|
|
NM_019098.5(CNGB3):c.130-1G>T
|
rs1554619303
|
|
NM_019098.5(CNGB3):c.1304C>T (p.Ser435Phe)
|
rs121918344
|
|
NM_019098.5(CNGB3):c.1366del (p.Arg456fs)
|
rs1057516878
|
|
NM_019098.5(CNGB3):c.1426C>T (p.Gln476Ter)
|
rs1554610284
|
|
NM_019098.5(CNGB3):c.1460G>A (p.Trp487Ter)
|
rs999921351
|
|
NM_019098.5(CNGB3):c.1480+1G>A
|
rs1057516825
|
|
NM_019098.5(CNGB3):c.1493del (p.Leu498fs)
|
rs773381712
|
|
NM_019098.5(CNGB3):c.1516del (p.Val506fs)
|
rs768735888
|
|
NM_019098.5(CNGB3):c.1566_1569dup (p.Leu524fs)
|
rs1554609946
|
|
NM_019098.5(CNGB3):c.1578+1G>T
|
rs372006750
|
|
NM_019098.5(CNGB3):c.1579-1G>A
|
rs1057516504
|
|
NM_019098.5(CNGB3):c.1579-2A>G
|
rs772725807
|
|
NM_019098.5(CNGB3):c.1635T>A (p.Tyr545Ter)
|
rs1554608319
|
|
NM_019098.5(CNGB3):c.1663-2137C>T
|
rs998703203
|
|
NM_019098.5(CNGB3):c.1663-2660_1781+5516del
|
|
|
NM_019098.5(CNGB3):c.1781+1G>A
|
rs1375507464
|
|
NM_019098.5(CNGB3):c.1781+1G>C
|
rs1375507464
|
|
NM_019098.5(CNGB3):c.1781+1G>T
|
rs1375507464
|
|
NM_019098.5(CNGB3):c.1781+1del
|
rs1554607546
|
|
NM_019098.5(CNGB3):c.1782-2A>C
|
rs1554604851
|
|
NM_019098.5(CNGB3):c.1782-3723_2103+739del
|
|
|
NM_019098.5(CNGB3):c.1815del (p.Ala606fs)
|
rs1362472371
|
|
NM_019098.5(CNGB3):c.190del (p.Glu64fs)
|
rs1554619292
|
|
NM_019098.5(CNGB3):c.208C>T (p.Gln70Ter)
|
rs1052078370
|
|
NM_019098.5(CNGB3):c.2103+1G>A
|
rs1554604767
|
|
NM_019098.5(CNGB3):c.212-2527_338+2854del
|
|
|
NM_019098.5(CNGB3):c.2221del (p.Asp741fs)
|
rs1554604552
|
|
NM_019098.5(CNGB3):c.2328del (p.Arg777fs)
|
rs1585941011
|
|
NM_019098.5(CNGB3):c.2359del (p.Ser787fs)
|
rs1554604525
|
|
NM_019098.5(CNGB3):c.257del (p.Pro86fs)
|
rs1554618420
|
|
NM_019098.5(CNGB3):c.265C>T (p.Gln89Ter)
|
rs1554618417
|
|
NM_019098.5(CNGB3):c.281_284del (p.Pro94fs)
|
rs1554618413
|
|
NM_019098.5(CNGB3):c.29dup (p.Val11fs)
|
rs1442286151
|
|
NM_019098.5(CNGB3):c.301C>T (p.Gln101Ter)
|
rs1554618404
|
|
NM_019098.5(CNGB3):c.31dup (p.Val11fs)
|
rs1554619509
|
|
NM_019098.5(CNGB3):c.391C>T (p.Gln131Ter)
|
rs786204492
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NM_019098.5(CNGB3):c.3G>A (p.Met1Ile)
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rs1554619513
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NM_019098.5(CNGB3):c.442_446delinsGAAAAT (p.Lys148fs)
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rs2131618938
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NM_019098.5(CNGB3):c.445_446insT (p.Lys149fs)
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rs1823849258
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NM_019098.5(CNGB3):c.446_447insT (p.Lys149fs)
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rs748993388
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NM_019098.5(CNGB3):c.494-2A>T
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rs1554614157
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NM_019098.5(CNGB3):c.589_590del (p.Leu197fs)
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rs1554614131
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NM_019098.5(CNGB3):c.595del (p.Glu199fs)
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rs1823778696
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NM_019098.5(CNGB3):c.643+2T>C
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rs1391492794
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NM_019098.5(CNGB3):c.682dup (p.Ala228fs)
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rs1554614038
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NM_019098.5(CNGB3):c.702T>A (p.Cys234Ter)
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rs6471482
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NM_019098.5(CNGB3):c.791_794del (p.Tyr264fs)
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rs1554613998
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NM_019098.5(CNGB3):c.819_826del (p.Arg274fs)
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rs775796581
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NM_019098.5(CNGB3):c.819del (p.Arg274fs)
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rs1586003680
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NM_019098.5(CNGB3):c.852+4010_903+1699dup
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NM_019098.5(CNGB3):c.882C>G (p.Tyr294Ter)
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rs1554612805
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NM_019098.5(CNGB3):c.886_896delinsT (p.Thr296fs)
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rs886063161
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NM_019098.5(CNGB3):c.904-2A>T
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rs1554612159
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NM_019098.5(CNGB3):c.926C>T (p.Pro309Leu)
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rs1554612145
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NM_019098.5(CNGB3):c.95dup (p.His32fs)
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rs1554619500
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NM_019098.5(CNGB3):c.991-3T>G
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rs773372519
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NM_019098.5(CNGB3):c.[442A>G;446_447insT]
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|
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NM_020061.6(OPN1LW):c.269G>A (p.Trp90Ter)
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rs2067071714
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NM_020061.6(OPN1LW):c.607T>C (p.Cys203Arg)
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rs121434621
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NM_020061.6(OPN1LW):c.739C>T (p.Arg247Ter)
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rs104894912
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Single allele
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