NM_000283.4(PDE6B):c.1615-221A>G
|
rs4690287
|
0.99959
|
NM_000283.4(PDE6B):c.958G>A (p.Val320Ile)
|
rs10902758
|
0.99926
|
NM_000283.4(PDE6B):c.1401+86T>A
|
rs28742266
|
0.31333
|
NM_000283.4(PDE6B):c.2268+253G>A
|
rs28583078
|
0.21742
|
NM_000283.4(PDE6B):c.1059+81C>T
|
rs28630797
|
0.20703
|
NM_000283.4(PDE6B):c.2503+136C>T
|
rs28568555
|
0.20699
|
NM_000283.4(PDE6B):c.1832+197G>T
|
rs28586910
|
0.19913
|
NM_000283.4(PDE6B):c.2129+294G>T
|
rs3891250
|
0.19490
|
NM_000283.4(PDE6B):c.1614+243A>G
|
rs13119162
|
0.19421
|
NM_000283.4(PDE6B):c.469-291T>G
|
rs28754797
|
0.18506
|
NM_000283.4(PDE6B):c.993-90C>A
|
rs28742899
|
0.17300
|
NM_000283.4(PDE6B):c.2503+160G>A
|
rs28483373
|
0.17169
|
NM_000283.4(PDE6B):c.1921-193A>G
|
rs9985747
|
0.16187
|
NM_000283.4(PDE6B):c.1615-42C>G
|
rs73058406
|
0.11552
|
NM_000283.4(PDE6B):c.712-138G>C
|
rs28569875
|
0.11179
|
NM_000283.4(PDE6B):c.621+75C>T
|
rs72613106
|
0.10898
|
NM_000283.4(PDE6B):c.1401+396C>T
|
rs113260926
|
0.08770
|
NM_000283.4(PDE6B):c.2022-45del
|
rs35199616
|
0.06332
|
NM_000283.4(PDE6B):c.993-132G>C
|
rs28535694
|
0.06139
|
NM_000283.4(PDE6B):c.915G>A (p.Thr305=)
|
rs75695239
|
0.05186
|
NM_000283.4(PDE6B):c.1467+20C>T
|
rs74464382
|
0.05011
|
NM_000283.4(PDE6B):c.712-39G>A
|
rs28514424
|
0.03763
|
NM_000283.4(PDE6B):c.1108-205G>A
|
rs35621580
|
0.03573
|
NM_000283.4(PDE6B):c.*20C>A
|
rs61760239
|
0.03551
|
NM_000283.4(PDE6B):c.1467+77G>A
|
rs10023609
|
0.03097
|
NM_000283.4(PDE6B):c.469-179C>T
|
rs34391278
|
0.02959
|
NM_000283.4(PDE6B):c.*191C>A
|
rs111449765
|
0.02743
|
NM_000283.4(PDE6B):c.468+113C>T
|
rs9995112
|
0.02581
|
NM_000283.4(PDE6B):c.143G>A (p.Arg48Gln)
|
rs113842820
|
0.02573
|
NM_000283.4(PDE6B):c.123G>A (p.Pro41=)
|
rs113459274
|
0.02570
|
NC_000004.12:g.625470T>C
|
rs75749799
|
0.02569
|
NM_000283.4(PDE6B):c.373C>G (p.Pro125Ala)
|
rs28414606
|
0.02568
|
NM_000283.4(PDE6B):c.384C>T (p.Ser128=)
|
rs28510278
|
0.02567
|
NM_000283.4(PDE6B):c.469-210C>T
|
rs28615478
|
0.02559
|
NM_000283.4(PDE6B):c.1107+112G>T
|
rs76455781
|
0.02539
|
NM_000283.4(PDE6B):c.1401+110A>G
|
rs530816505
|
0.02455
|
NM_000283.4(PDE6B):c.2504-205G>C
|
rs35925646
|
0.02197
|
NM_000283.4(PDE6B):c.1467+41C>T
|
rs116283697
|
0.02034
|
NM_000283.4(PDE6B):c.621+194G>A
|
rs1212960611
|
0.01359
|
NM_000283.4(PDE6B):c.2526C>T (p.Gly842=)
|
rs61733857
|
0.01240
|
NM_000283.4(PDE6B):c.2289G>A (p.Lys763=)
|
rs61739716
|
0.01153
|
NM_000283.4(PDE6B):c.2331C>T (p.Phe777=)
|
rs35792756
|
0.01026
|
NM_000283.4(PDE6B):c.2505A>G (p.Val835=)
|
rs61734864
|
0.00938
|
NM_000283.4(PDE6B):c.496G>A (p.Glu166Lys)
|
rs115775983
|
0.00911
|
NM_000283.4(PDE6B):c.928-175G>A
|
rs116353162
|
0.00847
|
NM_000283.4(PDE6B):c.873T>C (p.Ser291=)
|
rs142597807
|
0.00827
|
NM_000283.4(PDE6B):c.615C>T (p.Asp205=)
|
rs149293844
|
0.00577
|
NM_000283.4(PDE6B):c.1467+18G>A
|
rs140243735
|
0.00555
|
NM_000283.4(PDE6B):c.26G>A (p.Arg9Gln)
|
rs76755568
|
0.00548
|
NM_000283.4(PDE6B):c.655T>C (p.Tyr219His)
|
rs62295357
|
0.00465
|
NM_000283.4(PDE6B):c.1635C>T (p.Phe545=)
|
rs141813304
|
0.00436
|
NM_000283.4(PDE6B):c.101C>T (p.Ala34Val)
|
rs148829093
|
0.00434
|
NM_000283.4(PDE6B):c.1059+9C>G
|
rs112918073
|
0.00427
|
NM_000283.4(PDE6B):c.270C>T (p.Asp90=)
|
rs80344633
|
0.00422
|
NM_000283.4(PDE6B):c.2194-13C>A
|
rs147952407
|
0.00395
|
NM_000283.4(PDE6B):c.1108-9C>T
|
rs200970775
|
0.00373
|
NM_000283.4(PDE6B):c.1060-13G>A
|
rs147482093
|
0.00365
|
NM_000283.4(PDE6B):c.852+11C>T
|
rs148464123
|
0.00312
|
NM_000283.4(PDE6B):c.711+11G>A
|
rs111340191
|
0.00257
|
NM_000283.4(PDE6B):c.343C>G (p.Pro115Ala)
|
rs147382017
|
0.00240
|
NM_000283.4(PDE6B):c.711+10C>T
|
rs201100689
|
0.00237
|
NM_000283.4(PDE6B):c.2371G>A (p.Glu791Lys)
|
rs74411086
|
0.00198
|
NM_000283.4(PDE6B):c.1194C>T (p.Val398=)
|
rs116784895
|
0.00091
|
NM_000283.4(PDE6B):c.145G>T (p.Asp49Tyr)
|
rs79826315
|
0.00091
|
NM_000283.4(PDE6B):c.1625G>A (p.Arg542Gln)
|
rs190470432
|
0.00087
|
NM_000283.4(PDE6B):c.794G>A (p.Arg265Gln)
|
rs144562730
|
0.00079
|
NM_000283.4(PDE6B):c.1497T>G (p.Phe499Leu)
|
rs150000610
|
0.00078
|
NM_000283.4(PDE6B):c.1401+4C>T
|
rs113246945
|
0.00077
|
NM_000283.4(PDE6B):c.1083C>T (p.Ser361=)
|
rs142802752
|
0.00073
|
NM_000283.4(PDE6B):c.852+12G>A
|
rs201676629
|
0.00070
|
NM_000283.4(PDE6B):c.1401+16A>T
|
rs202051878
|
0.00068
|
NM_000283.4(PDE6B):c.1722+5G>A
|
rs73058408
|
0.00067
|
NM_000283.4(PDE6B):c.1218C>T (p.Asp406=)
|
rs148190219
|
0.00061
|
NM_000283.4(PDE6B):c.2193+15C>T
|
rs376883350
|
0.00061
|
NM_000283.4(PDE6B):c.2470A>G (p.Lys824Glu)
|
rs138682290
|
0.00056
|
NM_000283.4(PDE6B):c.706G>A (p.Gly236Ser)
|
rs75543439
|
0.00051
|
NM_000283.4(PDE6B):c.1296C>T (p.Thr432=)
|
rs114100439
|
0.00048
|
NM_000283.4(PDE6B):c.804C>T (p.Leu268=)
|
rs147372374
|
0.00047
|
NM_000283.4(PDE6B):c.220C>T (p.Arg74Cys)
|
rs144590560
|
0.00046
|
NM_000283.4(PDE6B):c.267C>T (p.Ala89=)
|
rs147181781
|
0.00046
|
NM_000283.4(PDE6B):c.993-18C>T
|
rs374725416
|
0.00046
|
NM_000283.4(PDE6B):c.651G>A (p.Thr217=)
|
rs200664252
|
0.00041
|
NM_000283.4(PDE6B):c.905G>A (p.Gly302Asp)
|
rs146646008
|
0.00041
|
NM_000283.4(PDE6B):c.25C>T (p.Arg9Trp)
|
rs140441389
|
0.00037
|
NM_000283.4(PDE6B):c.2129+16G>A
|
rs202218348
|
0.00034
|
NM_000283.4(PDE6B):c.2352+3G>A
|
rs111504036
|
0.00033
|
NM_000283.4(PDE6B):c.1257+19G>A
|
rs376175923
|
0.00032
|
NM_000283.4(PDE6B):c.1401+5G>A
|
rs201623488
|
0.00032
|
NM_000283.4(PDE6B):c.966C>T (p.His322=)
|
rs143711050
|
0.00032
|
NM_000283.4(PDE6B):c.2504-1G>C
|
rs201870319
|
0.00029
|
NM_000283.4(PDE6B):c.292C>T (p.Arg98Cys)
|
rs374578601
|
0.00024
|
NM_000283.4(PDE6B):c.1253T>C (p.Met418Thr)
|
rs201691661
|
0.00022
|
NM_000283.4(PDE6B):c.1860del (p.His620fs)
|
rs769671323
|
0.00021
|
NM_000283.4(PDE6B):c.2151C>T (p.Cys717=)
|
rs201063091
|
0.00021
|
NM_000283.4(PDE6B):c.1833-17C>T
|
rs773721837
|
0.00020
|
NM_000283.4(PDE6B):c.1614+19C>T
|
rs553760477
|
0.00019
|
NM_000283.4(PDE6B):c.1805G>A (p.Arg602His)
|
rs752846577
|
0.00019
|
NM_000283.4(PDE6B):c.1108-10G>A
|
rs374534089
|
0.00018
|
NM_000283.4(PDE6B):c.1412C>T (p.Ala471Val)
|
rs182071364
|
0.00018
|
NM_000283.4(PDE6B):c.2548A>G (p.Thr850Ala)
|
rs141647790
|
0.00018
|
NM_000283.4(PDE6B):c.1414C>T (p.Arg472Cys)
|
rs143908642
|
0.00016
|
NM_000283.4(PDE6B):c.170C>T (p.Thr57Met)
|
rs149359860
|
0.00016
|
NM_000283.4(PDE6B):c.1942C>T (p.Leu648=)
|
rs369528678
|
0.00016
|
NM_000283.4(PDE6B):c.423C>T (p.His141=)
|
rs148575945
|
0.00016
|
NM_000283.4(PDE6B):c.48C>T (p.Pro16=)
|
rs147759031
|
0.00016
|
NM_000283.4(PDE6B):c.1920+4G>A
|
rs370313003
|
0.00015
|
NM_000283.4(PDE6B):c.1158G>A (p.Met386Ile)
|
rs138037719
|
0.00014
|
NM_000283.4(PDE6B):c.1722+4C>T
|
rs200389206
|
0.00014
|
NM_000283.4(PDE6B):c.1089C>T (p.Asp363=)
|
rs150360174
|
0.00013
|
NM_000283.4(PDE6B):c.133G>A (p.Asp45Asn)
|
rs138423108
|
0.00013
|
NM_000283.4(PDE6B):c.2099C>T (p.Ser700Phe)
|
rs752794968
|
0.00012
|
NM_000283.4(PDE6B):c.1540del (p.Leu514fs)
|
rs398123298
|
0.00011
|
NM_000283.4(PDE6B):c.2293G>C (p.Ala765Pro)
|
rs199521106
|
0.00011
|
NM_000283.4(PDE6B):c.1553A>T (p.Lys518Ile)
|
rs369561957
|
0.00010
|
NM_000283.4(PDE6B):c.1923C>T (p.Thr641=)
|
rs1162577076
|
0.00010
|
NM_000283.4(PDE6B):c.2352+14G>A
|
rs752968664
|
0.00010
|
NM_000283.4(PDE6B):c.2363G>A (p.Arg788His)
|
rs777999727
|
0.00010
|
NM_000283.4(PDE6B):c.1059+10G>A
|
rs377101351
|
0.00009
|
NM_000283.4(PDE6B):c.126G>A (p.Pro42=)
|
rs533513647
|
0.00009
|
NM_000283.4(PDE6B):c.1468-18C>G
|
rs185263445
|
0.00009
|
NM_000283.4(PDE6B):c.2193+5G>A
|
rs576895229
|
0.00009
|
NM_000283.4(PDE6B):c.2326G>A (p.Asp776Asn)
|
rs141563823
|
0.00009
|
NM_000283.4(PDE6B):c.726G>A (p.Ser242=)
|
rs200975847
|
0.00009
|
NM_000283.4(PDE6B):c.967G>A (p.Gly323Ser)
|
rs140224236
|
0.00009
|
NM_000283.4(PDE6B):c.1257+18C>T
|
rs548482275
|
0.00008
|
NM_000283.4(PDE6B):c.2268+20C>A
|
rs201982527
|
0.00008
|
NM_000283.4(PDE6B):c.2269-11C>T
|
rs370169775
|
0.00008
|
NM_000283.4(PDE6B):c.2292G>A (p.Ala764=)
|
rs758923888
|
0.00008
|
NM_000283.4(PDE6B):c.231C>T (p.Phe77=)
|
rs774936202
|
0.00008
|
NM_000283.4(PDE6B):c.272G>A (p.Arg91His)
|
rs142736367
|
0.00008
|
NM_000283.4(PDE6B):c.468+13G>A
|
rs376870992
|
0.00008
|
NM_000283.4(PDE6B):c.472C>T (p.Pro158Ser)
|
rs779281806
|
0.00008
|
NM_000283.4(PDE6B):c.564G>A (p.Ala188=)
|
rs570324313
|
0.00008
|
NM_000283.4(PDE6B):c.700C>T (p.Arg234Cys)
|
rs374915809
|
0.00008
|
NM_000283.4(PDE6B):c.1219G>A (p.Gly407Arg)
|
rs60635284
|
0.00007
|
NM_000283.4(PDE6B):c.1258-10T>A
|
rs727504074
|
0.00007
|
NM_000283.4(PDE6B):c.306C>T (p.Gly102=)
|
rs201939549
|
0.00007
|
NM_000283.4(PDE6B):c.352G>A (p.Val118Ile)
|
rs201253138
|
0.00007
|
NM_000283.4(PDE6B):c.459C>T (p.Asp153=)
|
rs753452282
|
0.00007
|
NM_000283.4(PDE6B):c.787A>G (p.Thr263Ala)
|
rs761281062
|
0.00007
|
NM_000283.4(PDE6B):c.926G>A (p.Arg309Gln)
|
rs145756948
|
0.00007
|
NM_000283.4(PDE6B):c.1108-11C>T
|
rs556100573
|
0.00006
|
NM_000283.4(PDE6B):c.1165G>A (p.Val389Ile)
|
rs149477100
|
0.00006
|
NM_000283.4(PDE6B):c.1420G>A (p.Gly474Arg)
|
rs375032863
|
0.00006
|
NM_000283.4(PDE6B):c.142C>T (p.Arg48Trp)
|
rs191195745
|
0.00006
|
NM_000283.4(PDE6B):c.1449C>T (p.Asp483=)
|
rs202073030
|
0.00006
|
NM_000283.4(PDE6B):c.1506C>T (p.Tyr502=)
|
rs750323428
|
0.00006
|
NM_000283.4(PDE6B):c.1540C>T (p.Leu514=)
|
rs780830241
|
0.00006
|
NM_000283.4(PDE6B):c.1653C>T (p.Tyr551=)
|
rs780618229
|
0.00006
|
NM_000283.4(PDE6B):c.1798G>A (p.Asp600Asn)
|
rs764605140
|
0.00006
|
NM_000283.4(PDE6B):c.1868C>T (p.Ser623Leu)
|
rs368095904
|
0.00006
|
NM_000283.4(PDE6B):c.1959C>T (p.His653=)
|
rs141521651
|
0.00006
|
NM_000283.4(PDE6B):c.2098T>A (p.Ser700Thr)
|
rs149880099
|
0.00006
|
NM_000283.4(PDE6B):c.2282G>A (p.Arg761Gln)
|
rs144727865
|
0.00006
|
NM_000283.4(PDE6B):c.2396G>A (p.Arg799Gln)
|
rs546425862
|
0.00006
|
NM_000283.4(PDE6B):c.339G>A (p.Val113=)
|
rs377564095
|
0.00006
|
NM_000283.4(PDE6B):c.344C>T (p.Pro115Leu)
|
rs189172362
|
0.00006
|
NM_000283.4(PDE6B):c.55G>T (p.Ala19Ser)
|
rs201287238
|
0.00006
|
NM_000283.4(PDE6B):c.591C>T (p.Asn197=)
|
rs200600572
|
0.00006
|
NM_000283.4(PDE6B):c.59G>A (p.Arg20His)
|
rs781251175
|
0.00006
|
NM_000283.4(PDE6B):c.682C>A (p.Leu228Ile)
|
rs201584824
|
0.00006
|
NM_000283.4(PDE6B):c.699G>A (p.Thr233=)
|
rs148264146
|
0.00006
|
NM_000283.4(PDE6B):c.760G>A (p.Glu254Lys)
|
rs146204075
|
0.00006
|
NM_000283.4(PDE6B):c.780C>T (p.Ala260=)
|
rs759132270
|
0.00006
|
NM_000283.4(PDE6B):c.811G>A (p.Glu271Lys)
|
rs374156343
|
0.00006
|
NM_000283.4(PDE6B):c.852+15G>A
|
rs371254584
|
0.00006
|
NM_000283.4(PDE6B):c.892C>T (p.Gln298Ter)
|
rs121918579
|
0.00006
|
NM_000283.4(PDE6B):c.927+17G>A
|
rs758233787
|
0.00006
|
NM_000283.4(PDE6B):c.114C>T (p.Asp38=)
|
rs371572108
|
0.00005
|
NM_000283.4(PDE6B):c.1383C>T (p.Asp461=)
|
rs1006827106
|
0.00005
|
NM_000283.4(PDE6B):c.1415G>A (p.Arg472His)
|
rs759164479
|
0.00005
|
NM_000283.4(PDE6B):c.1606C>T (p.Pro536Ser)
|
rs568331063
|
0.00005
|
NM_000283.4(PDE6B):c.1933_1938del (p.Tyr645_Gln646del)
|
rs748679882
|
0.00005
|
NM_000283.4(PDE6B):c.196A>G (p.Met66Val)
|
rs964274841
|
0.00005
|
NM_000283.4(PDE6B):c.2061G>C (p.Lys687Asn)
|
rs149423059
|
0.00005
|
NM_000283.4(PDE6B):c.221G>A (p.Arg74His)
|
rs370187319
|
0.00005
|
NM_000283.4(PDE6B):c.2325C>T (p.Ile775=)
|
rs373351939
|
0.00005
|
NM_000283.4(PDE6B):c.2344G>A (p.Val782Met)
|
rs145124626
|
0.00005
|
NM_000283.4(PDE6B):c.592G>A (p.Gly198Ser)
|
rs199690401
|
0.00005
|
NM_000283.4(PDE6B):c.753G>A (p.Thr251=)
|
rs149524100
|
0.00005
|
NM_000283.4(PDE6B):c.102G>A (p.Ala34=)
|
rs142437453
|
0.00004
|
NM_000283.4(PDE6B):c.1162A>G (p.Ile388Val)
|
rs765481943
|
0.00004
|
NM_000283.4(PDE6B):c.1195G>A (p.Ala399Thr)
|
rs532583140
|
0.00004
|
NM_000283.4(PDE6B):c.1531T>G (p.Cys511Gly)
|
rs746510596
|
0.00004
|
NM_000283.4(PDE6B):c.165G>C (p.Glu55Asp)
|
rs770318126
|
0.00004
|
NM_000283.4(PDE6B):c.1685G>A (p.Gly562Asp)
|
rs774268095
|
0.00004
|
NM_000283.4(PDE6B):c.1804C>T (p.Arg602Cys)
|
rs754298498
|
0.00004
|
NM_000283.4(PDE6B):c.1861G>A (p.Gly621Ser)
|
rs757161177
|
0.00004
|
NM_000283.4(PDE6B):c.193G>T (p.Asp65Tyr)
|
rs377415525
|
0.00004
|
NM_000283.4(PDE6B):c.2038C>T (p.Gln680Ter)
|
rs146171339
|
0.00004
|
NM_000283.4(PDE6B):c.204G>C (p.Glu68Asp)
|
rs200079698
|
0.00004
|
NM_000283.4(PDE6B):c.2129+8C>T
|
rs764138476
|
0.00004
|
NM_000283.4(PDE6B):c.2150G>A (p.Cys717Tyr)
|
rs142936195
|
0.00004
|
NM_000283.4(PDE6B):c.2274G>C (p.Met758Ile)
|
rs140857147
|
0.00004
|
NM_000283.4(PDE6B):c.2281C>T (p.Arg761Trp)
|
rs756653121
|
0.00004
|
NM_000283.4(PDE6B):c.2527G>A (p.Gly843Ser)
|
rs367709559
|
0.00004
|
NM_000283.4(PDE6B):c.271C>T (p.Arg91Cys)
|
rs747747667
|
0.00004
|
NM_000283.4(PDE6B):c.304G>A (p.Gly102Ser)
|
rs750237172
|
0.00004
|
NM_000283.4(PDE6B):c.307G>A (p.Val103Met)
|
rs751477149
|
0.00004
|
NM_000283.4(PDE6B):c.345G>A (p.Pro115=)
|
rs780426891
|
0.00004
|
NM_000283.4(PDE6B):c.379G>A (p.Asp127Asn)
|
rs766141814
|
0.00004
|
NM_000283.4(PDE6B):c.391G>A (p.Val131Ile)
|
rs145863444
|
0.00004
|
NM_000283.4(PDE6B):c.401T>C (p.Leu134Pro)
|
rs758700964
|
0.00004
|
NM_000283.4(PDE6B):c.424G>A (p.Val142Met)
|
rs370159647
|
0.00004
|
NM_000283.4(PDE6B):c.600C>T (p.Phe200=)
|
rs777216738
|
0.00004
|
NM_000283.4(PDE6B):c.650C>T (p.Thr217Met)
|
rs748586554
|
0.00004
|
NM_000283.4(PDE6B):c.698C>T (p.Thr233Met)
|
rs752852029
|
0.00004
|
NM_000283.4(PDE6B):c.701G>A (p.Arg234His)
|
rs369318359
|
0.00004
|
NM_000283.4(PDE6B):c.711+5C>G
|
rs771400327
|
0.00004
|
NM_000283.4(PDE6B):c.789G>A (p.Thr263=)
|
rs138789637
|
0.00004
|
NM_000283.4(PDE6B):c.919G>A (p.Asp307Asn)
|
rs113666063
|
0.00004
|
NM_000283.4(PDE6B):c.93T>A (p.Asn31Lys)
|
rs770449748
|
0.00004
|
NM_000283.4(PDE6B):c.1053C>T (p.Ser351=)
|
rs768980060
|
0.00003
|
NM_000283.4(PDE6B):c.1107+3A>G
|
rs370898371
|
0.00003
|
NM_000283.4(PDE6B):c.132C>G (p.Cys44Trp)
|
rs199974771
|
0.00003
|
NM_000283.4(PDE6B):c.1341C>T (p.Ile447=)
|
rs180768440
|
0.00003
|
NM_000283.4(PDE6B):c.1426G>A (p.Glu476Lys)
|
rs746783836
|
0.00003
|
NM_000283.4(PDE6B):c.1467+17C>T
|
rs771712859
|
0.00003
|
NM_000283.4(PDE6B):c.1669C>T (p.His557Tyr)
|
rs121918581
|
0.00003
|
NM_000283.4(PDE6B):c.1713G>A (p.Thr571=)
|
rs148025711
|
0.00003
|
NM_000283.4(PDE6B):c.1783C>T (p.Leu595=)
|
rs775835569
|
0.00003
|
NM_000283.4(PDE6B):c.1913C>T (p.Ser638Leu)
|
rs767873714
|
0.00003
|
NM_000283.4(PDE6B):c.1954C>T (p.Gln652Ter)
|
rs373037737
|
0.00003
|
NM_000283.4(PDE6B):c.1960G>A (p.Glu654Lys)
|
rs766224891
|
0.00003
|
NM_000283.4(PDE6B):c.2021+13C>T
|
rs758945481
|
0.00003
|
NM_000283.4(PDE6B):c.2079G>C (p.Lys693Asn)
|
rs528393303
|
0.00003
|
NM_000283.4(PDE6B):c.2100C>T (p.Ser700=)
|
rs756145629
|
0.00003
|
NM_000283.4(PDE6B):c.2129+7G>A
|
rs761148108
|
0.00003
|
NM_000283.4(PDE6B):c.222C>T (p.Arg74=)
|
rs148073084
|
0.00003
|
NM_000283.4(PDE6B):c.2254G>T (p.Asp752Tyr)
|
rs200667817
|
0.00003
|
NM_000283.4(PDE6B):c.2392G>A (p.Asp798Asn)
|
rs746471576
|
0.00003
|
NM_000283.4(PDE6B):c.2409T>C (p.Asn803=)
|
rs200002559
|
0.00003
|
NM_000283.4(PDE6B):c.285C>T (p.Phe95=)
|
rs746211772
|
0.00003
|
NM_000283.4(PDE6B):c.299G>A (p.Arg100His)
|
rs555600300
|
0.00003
|
NM_000283.4(PDE6B):c.387G>T (p.Glu129Asp)
|
rs752303143
|
0.00003
|
NM_000283.4(PDE6B):c.414C>T (p.Val138=)
|
rs748297420
|
0.00003
|
NM_000283.4(PDE6B):c.460G>A (p.Val154Met)
|
rs756889736
|
0.00003
|
NM_000283.4(PDE6B):c.558C>T (p.Val186=)
|
rs371920663
|
0.00003
|
NM_000283.4(PDE6B):c.58C>T (p.Arg20Cys)
|
rs558368752
|
0.00003
|
NM_000283.4(PDE6B):c.704G>A (p.Arg235His)
|
rs757918699
|
0.00003
|
NM_000283.4(PDE6B):c.769T>G (p.Phe257Val)
|
rs766492141
|
0.00003
|
NM_000283.4(PDE6B):c.992C>T (p.Pro331Leu)
|
rs146116505
|
0.00003
|
NM_000283.4(PDE6B):c.1027G>A (p.Gly343Ser)
|
rs368173258
|
0.00002
|
NM_000283.4(PDE6B):c.1235A>T (p.Glu412Val)
|
rs776905782
|
0.00002
|
NM_000283.4(PDE6B):c.1272C>G (p.Phe424Leu)
|
rs202194404
|
0.00002
|
NM_000283.4(PDE6B):c.1297G>A (p.Asp433Asn)
|
rs539768252
|
0.00002
|
NM_000283.4(PDE6B):c.1342G>A (p.Ala448Thr)
|
rs779139841
|
0.00002
|
NM_000283.4(PDE6B):c.1366G>A (p.Val456Met)
|
rs376028657
|
0.00002
|
NM_000283.4(PDE6B):c.1375G>A (p.Asp459Asn)
|
rs368069770
|
0.00002
|
NM_000283.4(PDE6B):c.1401+8G>A
|
rs531652183
|
0.00002
|
NM_000283.4(PDE6B):c.1417C>A (p.Leu473Met)
|
rs1342420559
|
0.00002
|
NM_000283.4(PDE6B):c.1467+15C>A
|
rs745384266
|
0.00002
|
NM_000283.4(PDE6B):c.1468-15C>T
|
rs773508753
|
0.00002
|
NM_000283.4(PDE6B):c.1521T>C (p.Ser507=)
|
rs1372632173
|
0.00002
|
NM_000283.4(PDE6B):c.1575C>T (p.Tyr525=)
|
rs373724992
|
0.00002
|
NM_000283.4(PDE6B):c.1580T>C (p.Leu527Pro)
|
rs760766981
|
0.00002
|
NM_000283.4(PDE6B):c.1591C>T (p.Arg531Ter)
|
rs121918580
|
0.00002
|
NM_000283.4(PDE6B):c.1614+12C>T
|
rs370003763
|
0.00002
|
NM_000283.4(PDE6B):c.1615-4C>A
|
rs1273923720
|
0.00002
|
NM_000283.4(PDE6B):c.1654C>T (p.Arg552Trp)
|
rs1201231261
|
0.00002
|
NM_000283.4(PDE6B):c.1655G>A (p.Arg552Gln)
|
rs751859807
|
0.00002
|
NM_000283.4(PDE6B):c.1703C>T (p.Thr568Met)
|
rs369980987
|
0.00002
|
NM_000283.4(PDE6B):c.171G>A (p.Thr57=)
|
rs763391072
|
0.00002
|
NM_000283.4(PDE6B):c.173C>T (p.Ala58Val)
|
rs200898108
|
0.00002
|
NM_000283.4(PDE6B):c.1779C>T (p.Ala593=)
|
rs769147926
|
0.00002
|
NM_000283.4(PDE6B):c.1827G>A (p.Gln609=)
|
rs748138553
|
0.00002
|
NM_000283.4(PDE6B):c.1832+16C>T
|
rs1454338239
|
0.00002
|
NM_000283.4(PDE6B):c.1833-11C>T
|
rs1001332582
|
0.00002
|
NM_000283.4(PDE6B):c.1879C>G (p.Arg627Gly)
|
rs371911345
|
0.00002
|
NM_000283.4(PDE6B):c.1911C>A (p.Leu637=)
|
rs369781800
|
0.00002
|
NM_000283.4(PDE6B):c.1921-5C>T
|
rs780649581
|
0.00002
|
NM_000283.4(PDE6B):c.2075A>G (p.Lys692Arg)
|
rs1305642045
|
0.00002
|
NM_000283.4(PDE6B):c.2089G>C (p.Glu697Gln)
|
rs766706231
|
0.00002
|
NM_000283.4(PDE6B):c.208A>G (p.Ile70Val)
|
rs757030384
|
0.00002
|
NM_000283.4(PDE6B):c.2138T>C (p.Met713Thr)
|
rs371322951
|
0.00002
|
NM_000283.4(PDE6B):c.214A>G (p.Met72Val)
|
rs745722843
|
0.00002
|
NM_000283.4(PDE6B):c.2194-16C>T
|
rs561411676
|
0.00002
|
NM_000283.4(PDE6B):c.2206G>A (p.Val736Met)
|
rs779518964
|
0.00002
|
NM_000283.4(PDE6B):c.223G>A (p.Val75Met)
|
rs376238566
|
0.00002
|
NM_000283.4(PDE6B):c.2269-14G>T
|
rs769796615
|
0.00002
|
NM_000283.4(PDE6B):c.2287A>G (p.Lys763Glu)
|
rs757656130
|
0.00002
|
NM_000283.4(PDE6B):c.2332G>A (p.Val778Met)
|
rs775321796
|
0.00002
|
NM_000283.4(PDE6B):c.2352+13C>T
|
rs374527841
|
0.00002
|
NM_000283.4(PDE6B):c.2352+2C>T
|
rs751661904
|
0.00002
|
NM_000283.4(PDE6B):c.2361T>C (p.Ser787=)
|
rs756300513
|
0.00002
|
NM_000283.4(PDE6B):c.2387T>C (p.Met796Thr)
|
rs745856717
|
0.00002
|
NM_000283.4(PDE6B):c.2401C>T (p.Gln801Ter)
|
rs559964930
|
0.00002
|
NM_000283.4(PDE6B):c.242G>A (p.Arg81Gln)
|
rs370894310
|
0.00002
|
NM_000283.4(PDE6B):c.2476G>A (p.Glu826Lys)
|
rs368110918
|
0.00002
|
NM_000283.4(PDE6B):c.251G>A (p.Cys84Tyr)
|
rs750393714
|
0.00002
|
NM_000283.4(PDE6B):c.297G>A (p.Gln99=)
|
rs768652560
|
0.00002
|
NM_000283.4(PDE6B):c.313G>A (p.Glu105Lys)
|
rs398123299
|
0.00002
|
NM_000283.4(PDE6B):c.316C>T (p.Leu106=)
|
rs752429712
|
0.00002
|
NM_000283.4(PDE6B):c.375C>T (p.Pro125=)
|
rs776796063
|
0.00002
|
NM_000283.4(PDE6B):c.441G>C (p.Lys147Asn)
|
rs374446899
|
0.00002
|
NM_000283.4(PDE6B):c.450C>T (p.Asn150=)
|
rs144512155
|
0.00002
|
NM_000283.4(PDE6B):c.468+12C>T
|
rs781668266
|
0.00002
|
NM_000283.4(PDE6B):c.469-5G>A
|
rs530695084
|
0.00002
|
NM_000283.4(PDE6B):c.491C>T (p.Ala164Val)
|
rs746748194
|
0.00002
|
NM_000283.4(PDE6B):c.670C>G (p.His224Asp)
|
rs899890736
|
0.00002
|
NM_000283.4(PDE6B):c.694G>A (p.Glu232Lys)
|
rs201593198
|
0.00002
|
NM_000283.4(PDE6B):c.703C>T (p.Arg235Cys)
|
rs749955507
|
0.00002
|
NM_000283.4(PDE6B):c.711+6C>G
|
rs759541024
|
0.00002
|
NM_000283.4(PDE6B):c.712-13C>A
|
rs1383604116
|
0.00002
|
NM_000283.4(PDE6B):c.712-14G>C
|
rs1046476636
|
0.00002
|
NM_000283.4(PDE6B):c.788C>T (p.Thr263Met)
|
rs755828989
|
0.00002
|
NM_000283.4(PDE6B):c.814C>T (p.Arg272Trp)
|
rs150497650
|
0.00002
|
NM_000283.4(PDE6B):c.928-9G>C
|
rs776124623
|
0.00002
|
NM_000283.4(PDE6B):c.992+1G>A
|
rs898144119
|
0.00002
|
NM_000283.4(PDE6B):c.993-8G>T
|
rs775708541
|
0.00002
|
NM_000283.4(PDE6B):c.1049A>C (p.Glu350Ala)
|
rs201953373
|
0.00001
|
NM_000283.4(PDE6B):c.1054G>A (p.Gly352Ser)
|
rs781265218
|
0.00001
|
NM_000283.4(PDE6B):c.1059+14T>C
|
rs775861441
|
0.00001
|
NM_000283.4(PDE6B):c.109G>A (p.Glu37Lys)
|
rs376908835
|
0.00001
|
NM_000283.4(PDE6B):c.1107+8T>G
|
rs778929443
|
0.00001
|
NM_000283.4(PDE6B):c.1108-19C>G
|
rs1400430773
|
0.00001
|
NM_000283.4(PDE6B):c.1108-4G>A
|
rs560147292
|
0.00001
|
NM_000283.4(PDE6B):c.1128C>T (p.Ser376=)
|
rs527322755
|
0.00001
|
NM_000283.4(PDE6B):c.1129G>A (p.Gly377Arg)
|
rs373742526
|
0.00001
|
NM_000283.4(PDE6B):c.1133G>A (p.Trp378Ter)
|
rs367889201
|
0.00001
|
NM_000283.4(PDE6B):c.1134G>A (p.Trp378Ter)
|
rs1360000258
|
0.00001
|
NM_000283.4(PDE6B):c.1143G>C (p.Lys381Asn)
|
rs1191669298
|
0.00001
|
NM_000283.4(PDE6B):c.115G>A (p.Gly39Arg)
|
rs151334566
|
0.00001
|
NM_000283.4(PDE6B):c.1243G>A (p.Glu415Lys)
|
rs750599200
|
0.00001
|
NM_000283.4(PDE6B):c.1273C>G (p.Leu425Val)
|
rs1736405182
|
0.00001
|
NM_000283.4(PDE6B):c.1286T>A (p.Val429Glu)
|
rs1304399193
|
0.00001
|
NM_000283.4(PDE6B):c.1287G>A (p.Val429=)
|
rs759351497
|
0.00001
|
NM_000283.4(PDE6B):c.1295C>T (p.Thr432Ile)
|
rs775120495
|
0.00001
|
NM_000283.4(PDE6B):c.1305C>T (p.Tyr435=)
|
rs764993920
|
0.00001
|
NM_000283.4(PDE6B):c.1330C>T (p.Arg444Cys)
|
rs189094454
|
0.00001
|
NM_000283.4(PDE6B):c.1351A>G (p.Met451Val)
|
rs375564041
|
0.00001
|
NM_000283.4(PDE6B):c.1370A>G (p.Lys457Arg)
|
rs574676553
|
0.00001
|
NM_000283.4(PDE6B):c.1373G>A (p.Cys458Tyr)
|
rs761428338
|
0.00001
|
NM_000283.4(PDE6B):c.1374C>T (p.Cys458=)
|
rs541985727
|
0.00001
|
NM_000283.4(PDE6B):c.1384G>A (p.Glu462Lys)
|
rs560334464
|
0.00001
|
NM_000283.4(PDE6B):c.1401+6_1401+7insT
|
rs776540118
|
0.00001
|
NM_000283.4(PDE6B):c.1424A>T (p.Lys475Met)
|
rs1736701038
|
0.00001
|
NM_000283.4(PDE6B):c.1459G>A (p.Glu487Lys)
|
rs139369984
|
0.00001
|
NM_000283.4(PDE6B):c.1509A>C (p.Glu503Asp)
|
rs1270538372
|
0.00001
|
NM_000283.4(PDE6B):c.1536C>T (p.Thr512=)
|
rs1428297472
|
0.00001
|
NM_000283.4(PDE6B):c.1537G>C (p.Glu513Gln)
|
rs768260906
|
0.00001
|
NM_000283.4(PDE6B):c.1541T>G (p.Leu514Arg)
|
rs771286479
|
0.00001
|
NM_000283.4(PDE6B):c.1590C>T (p.Val530=)
|
rs202244041
|
0.00001
|
NM_000283.4(PDE6B):c.1604T>A (p.Ile535Asn)
|
rs527236088
|
0.00001
|
NM_000283.4(PDE6B):c.1614+13G>A
|
rs373070989
|
0.00001
|
NM_000283.4(PDE6B):c.1615-11G>A
|
rs934976363
|
0.00001
|
NM_000283.4(PDE6B):c.1624C>T (p.Arg542Trp)
|
rs760042062
|
0.00001
|
NM_000283.4(PDE6B):c.1632G>A (p.Leu544=)
|
rs753504550
|
0.00001
|
NM_000283.4(PDE6B):c.1671C>T (p.His557=)
|
rs919002816
|
0.00001
|
NM_000283.4(PDE6B):c.1678C>T (p.Arg560Cys)
|
rs201541131
|
0.00001
|
NM_000283.4(PDE6B):c.1679G>A (p.Arg560His)
|
rs777799273
|
0.00001
|
NM_000283.4(PDE6B):c.1682A>G (p.His561Arg)
|
rs1305333312
|
0.00001
|
NM_000283.4(PDE6B):c.1692C>T (p.Asn564=)
|
rs1226622625
|
0.00001
|
NM_000283.4(PDE6B):c.1699C>T (p.Gln567Ter)
|
rs772057239
|
0.00001
|
NM_000283.4(PDE6B):c.1704G>A (p.Thr568=)
|
rs143615664
|
0.00001
|
NM_000283.4(PDE6B):c.1712C>T (p.Thr571Met)
|
rs761619791
|
0.00001
|
NM_000283.4(PDE6B):c.1719C>T (p.Leu573=)
|
rs751960878
|
0.00001
|
NM_000283.4(PDE6B):c.1726G>A (p.Gly576Ser)
|
rs753925314
|
0.00001
|
NM_000283.4(PDE6B):c.174G>A (p.Ala58=)
|
rs1183580191
|
0.00001
|
NM_000283.4(PDE6B):c.1761C>T (p.Ala587=)
|
rs768721197
|
0.00001
|
NM_000283.4(PDE6B):c.1780G>A (p.Gly594Ser)
|
rs536681553
|
0.00001
|
NM_000283.4(PDE6B):c.1806C>T (p.Arg602=)
|
rs140849790
|
0.00001
|
NM_000283.4(PDE6B):c.1811C>T (p.Thr604Ile)
|
rs752738349
|
0.00001
|
NM_000283.4(PDE6B):c.181G>T (p.Glu61Ter)
|
rs767438881
|
0.00001
|
NM_000283.4(PDE6B):c.1832+17G>A
|
rs769044865
|
0.00001
|
NM_000283.4(PDE6B):c.1832+4G>A
|
rs770501384
|
0.00001
|
NM_000283.4(PDE6B):c.1832+9C>G
|
rs1157614814
|
0.00001
|
NM_000283.4(PDE6B):c.1833-9G>A
|
rs766606835
|
0.00001
|
NM_000283.4(PDE6B):c.183G>A (p.Glu61=)
|
rs752986583
|
0.00001
|
NM_000283.4(PDE6B):c.1852A>C (p.Lys618Gln)
|
rs1169477125
|
0.00001
|
NM_000283.4(PDE6B):c.1854G>A (p.Lys618=)
|
rs755888988
|
0.00001
|
NM_000283.4(PDE6B):c.1860C>G (p.His620Gln)
|
rs371908618
|
0.00001
|
NM_000283.4(PDE6B):c.1865C>G (p.Ser622Cys)
|
rs373925141
|
0.00001
|
NM_000283.4(PDE6B):c.1895T>C (p.Phe632Ser)
|
rs773420808
|
0.00001
|
NM_000283.4(PDE6B):c.1910T>C (p.Leu637Pro)
|
rs774575442
|
0.00001
|
NM_000283.4(PDE6B):c.1920+2T>C
|
rs763996159
|
0.00001
|
NM_000283.4(PDE6B):c.1920+8T>A
|
rs1737329728
|
0.00001
|
NM_000283.4(PDE6B):c.1921-8C>T
|
rs1374835946
|
0.00001
|
NM_000283.4(PDE6B):c.192G>C (p.Gln64His)
|
rs1340296893
|
0.00001
|
NM_000283.4(PDE6B):c.1949G>A (p.Arg650Gln)
|
rs1182502700
|
0.00001
|
NM_000283.4(PDE6B):c.1992C>T (p.Ile664=)
|
rs1194769039
|
0.00001
|
NM_000283.4(PDE6B):c.1995C>G (p.Ile665Met)
|
rs752437687
|
0.00001
|
NM_000283.4(PDE6B):c.1996G>A (p.Ala666Thr)
|
rs779474710
|
0.00001
|
NM_000283.4(PDE6B):c.2004C>T (p.Asp668=)
|
rs1251819750
|
0.00001
|
NM_000283.4(PDE6B):c.2019C>T (p.Phe673=)
|
rs959265084
|
0.00001
|
NM_000283.4(PDE6B):c.2039A>G (p.Gln680Arg)
|
rs1432322807
|
0.00001
|
NM_000283.4(PDE6B):c.2069A>C (p.Gln690Pro)
|
rs1560135667
|
0.00001
|
NM_000283.4(PDE6B):c.2106G>A (p.Glu702=)
|
rs749521240
|
0.00001
|
NM_000283.4(PDE6B):c.2107A>G (p.Thr703Ala)
|
rs757484823
|
0.00001
|
NM_000283.4(PDE6B):c.2114G>A (p.Arg705Gln)
|
rs200397909
|
0.00001
|
NM_000283.4(PDE6B):c.2124C>T (p.Ile708=)
|
rs144847778
|
0.00001
|
NM_000283.4(PDE6B):c.2129+3G>A
|
rs753240857
|
0.00001
|
NM_000283.4(PDE6B):c.2130-15G>A
|
rs765410161
|
0.00001
|
NM_000283.4(PDE6B):c.2130-1G>A
|
rs148555862
|
0.00001
|
NM_000283.4(PDE6B):c.2140A>T (p.Met714Leu)
|
rs751413984
|
0.00001
|
NM_000283.4(PDE6B):c.217G>A (p.Glu73Lys)
|
rs779379143
|
0.00001
|
NM_000283.4(PDE6B):c.2193+14G>A
|
rs763070500
|
0.00001
|
NM_000283.4(PDE6B):c.2352G>A (p.Lys784=)
|
rs766851759
|
0.00001
|
NM_000283.4(PDE6B):c.2413A>G (p.Lys805Glu)
|
rs767951010
|
0.00001
|
NM_000283.4(PDE6B):c.2419T>C (p.Trp807Arg)
|
rs121918583
|
0.00001
|
NM_000283.4(PDE6B):c.241C>T (p.Arg81Trp)
|
rs775472684
|
0.00001
|
NM_000283.4(PDE6B):c.244C>T (p.Arg82Cys)
|
rs754051319
|
0.00001
|
NM_000283.4(PDE6B):c.2454G>A (p.Val818=)
|
rs746531876
|
0.00001
|
NM_000283.4(PDE6B):c.2503+5G>C
|
rs772596728
|
0.00001
|
NM_000283.4(PDE6B):c.2504-19C>T
|
rs555949349
|
0.00001
|
NM_000283.4(PDE6B):c.262C>T (p.Gln88Ter)
|
rs970768801
|
0.00001
|
NM_000283.4(PDE6B):c.291C>A (p.Tyr97Ter)
|
rs876657718
|
0.00001
|
NM_000283.4(PDE6B):c.293G>A (p.Arg98His)
|
rs776050413
|
0.00001
|
NM_000283.4(PDE6B):c.296A>G (p.Gln99Arg)
|
rs576548604
|
0.00001
|
NM_000283.4(PDE6B):c.303C>T (p.Asn101=)
|
rs747505315
|
0.00001
|
NM_000283.4(PDE6B):c.308T>C (p.Val103Ala)
|
rs769212020
|
0.00001
|
NM_000283.4(PDE6B):c.309G>A (p.Val103=)
|
rs921170968
|
0.00001
|
NM_000283.4(PDE6B):c.312C>G (p.Ala104=)
|
rs754551261
|
0.00001
|
NM_000283.4(PDE6B):c.350G>A (p.Ser117Asn)
|
rs1463082566
|
0.00001
|
NM_000283.4(PDE6B):c.351C>T (p.Ser117=)
|
rs747455507
|
0.00001
|
NM_000283.4(PDE6B):c.354C>T (p.Val118=)
|
rs1465909388
|
0.00001
|
NM_000283.4(PDE6B):c.365G>A (p.Cys122Tyr)
|
rs1313437038
|
0.00001
|
NM_000283.4(PDE6B):c.378C>T (p.Pro126=)
|
rs762663455
|
0.00001
|
NM_000283.4(PDE6B):c.385G>A (p.Glu129Lys)
|
rs749657417
|
0.00001
|
NM_000283.4(PDE6B):c.390C>T (p.Ile130=)
|
rs755636741
|
0.00001
|
NM_000283.4(PDE6B):c.3G>T (p.Met1Ile)
|
rs1734048235
|
0.00001
|
NM_000283.4(PDE6B):c.409G>A (p.Gly137Arg)
|
rs781658083
|
0.00001
|
NM_000283.4(PDE6B):c.442A>T (p.Met148Leu)
|
rs775561306
|
0.00001
|
NM_000283.4(PDE6B):c.465C>T (p.Ala155=)
|
rs764834408
|
0.00001
|
NM_000283.4(PDE6B):c.466G>A (p.Glu156Lys)
|
rs751982910
|
0.00001
|
NM_000283.4(PDE6B):c.46C>G (p.Pro16Ala)
|
rs1360629462
|
0.00001
|
NM_000283.4(PDE6B):c.482G>A (p.Ser161Asn)
|
rs574098823
|
0.00001
|
NM_000283.4(PDE6B):c.485C>T (p.Ser162Leu)
|
rs772012465
|
0.00001
|
NM_000283.4(PDE6B):c.49G>A (p.Asp17Asn)
|
rs866891056
|
0.00001
|
NM_000283.4(PDE6B):c.502A>T (p.Thr168Ser)
|
rs1734559404
|
0.00001
|
NM_000283.4(PDE6B):c.525G>A (p.Met175Ile)
|
rs772876974
|
0.00001
|
NM_000283.4(PDE6B):c.574G>A (p.Ala192Thr)
|
rs368548274
|
0.00001
|
NM_000283.4(PDE6B):c.610G>T (p.Glu204Ter)
|
rs765804881
|
0.00001
|
NM_000283.4(PDE6B):c.622-20T>C
|
rs756813982
|
0.00001
|
NM_000283.4(PDE6B):c.71G>C (p.Gly24Ala)
|
rs1339216331
|
0.00001
|
NM_000283.4(PDE6B):c.723G>T (p.Trp241Cys)
|
rs1064796921
|
0.00001
|
NM_000283.4(PDE6B):c.739T>A (p.Phe247Ile)
|
rs780521818
|
0.00001
|
NM_000283.4(PDE6B):c.752C>T (p.Thr251Met)
|
rs747155909
|
0.00001
|
NM_000283.4(PDE6B):c.756del (p.Asp252fs)
|
rs1360639709
|
0.00001
|
NM_000283.4(PDE6B):c.759C>T (p.Ile253=)
|
rs776166987
|
0.00001
|
NM_000283.4(PDE6B):c.764G>C (p.Arg255Thr)
|
rs1735846674
|
0.00001
|
NM_000283.4(PDE6B):c.793C>T (p.Arg265Trp)
|
rs750845388
|
0.00001
|
NM_000283.4(PDE6B):c.800A>T (p.Tyr267Phe)
|
rs190999087
|
0.00001
|
NM_000283.4(PDE6B):c.815G>A (p.Arg272Gln)
|
rs760089278
|
0.00001
|
NM_000283.4(PDE6B):c.822C>T (p.Ser274=)
|
rs763317989
|
0.00001
|
NM_000283.4(PDE6B):c.837del (p.Asp279fs)
|
rs746141070
|
0.00001
|
NM_000283.4(PDE6B):c.838A>G (p.Met280Val)
|
rs368480280
|
0.00001
|
NM_000283.4(PDE6B):c.903G>A (p.Ser301=)
|
rs768183931
|
0.00001
|
NM_000283.4(PDE6B):c.914C>T (p.Thr305Met)
|
rs776099625
|
0.00001
|
NM_000283.4(PDE6B):c.925C>T (p.Arg309Trp)
|
rs764673374
|
0.00001
|
NM_000283.4(PDE6B):c.927+5G>A
|
rs920662600
|
0.00001
|
NM_000283.4(PDE6B):c.932T>C (p.Ile311Thr)
|
rs886059543
|
0.00001
|
NM_000283.4(PDE6B):c.968G>A (p.Gly323Asp)
|
rs151029036
|
0.00001
|
NM_000283.4(PDE6B):c.990T>C (p.Ile330=)
|
rs142350331
|
0.00001
|
NM_000283.4(PDE6B):c.992+8C>G
|
rs1176081407
|
0.00001
|
NM_000283.4(PDE6B):c.993-17C>T
|
rs772078851
|
0.00001
|
GRCh37/hg19 4p16.3(chr4:629047-642251)x1
|
|
|
GRCh37/hg19 4p16.3(chr4:662115-663403)x1
|
|
|
GRCh37/hg19 4p16.3(chr4:662301-663908)x1
|
|
|
NC_000004.11:g.(?_628446)_(629778_?)del
|
|
|
NC_000004.11:g.(?_647641)_(648677_?)del
|
|
|
NC_000004.11:g.(?_651219)_(652826_?)del
|
|
|
NC_000004.11:g.(?_652721)_(656427_?)del
|
|
|
NC_000004.11:g.(?_652741)_(656407_?)del
|
|
|
NC_000004.11:g.(?_654236)_(663896_?)dup
|
|
|
NC_000004.11:g.(?_663815)_(663896_?)del
|
|
|
NC_000004.12:g.(?_625627)_(626094_?)del
|
|
|
NC_000004.12:g.(?_666531)_(668006_?)del
|
|
|
NM_000283.3(PDE6B):c.1468_1470del
|
rs764601732
|
|
NM_000283.3:c.+12A>G
|
|
|
NM_000283.4(PDE6B):c.*153dup
|
rs374413250
|
|
NM_000283.4(PDE6B):c.1005C>G (p.Ala335=)
|
rs370605672
|
|
NM_000283.4(PDE6B):c.1005C>T (p.Ala335=)
|
|
|
NM_000283.4(PDE6B):c.1006G>T (p.Asp336Tyr)
|
rs751003798
|
|
NM_000283.4(PDE6B):c.100G>A (p.Ala34Thr)
|
|
|
NM_000283.4(PDE6B):c.100G>C (p.Ala34Pro)
|
rs182545478
|
|
NM_000283.4(PDE6B):c.1010A>G (p.His337Arg)
|
rs1736178477
|
|
NM_000283.4(PDE6B):c.1021G>A (p.Ala341Thr)
|
|
|
NM_000283.4(PDE6B):c.1026C>T (p.Ser342=)
|
rs754298712
|
|
NM_000283.4(PDE6B):c.1042G>T (p.Val348Leu)
|
|
|
NM_000283.4(PDE6B):c.1048G>C (p.Glu350Gln)
|
rs2109207919
|
|
NM_000283.4(PDE6B):c.1054G>T (p.Gly352Cys)
|
rs781265218
|
|
NM_000283.4(PDE6B):c.1059+10G>C
|
|
|
NM_000283.4(PDE6B):c.1059+19G>A
|
|
|
NM_000283.4(PDE6B):c.1059+1G>C
|
rs2109208075
|
|
NM_000283.4(PDE6B):c.1059+2_1059+3del
|
|
|
NM_000283.4(PDE6B):c.1060-1G>T
|
rs863223339
|
|
NM_000283.4(PDE6B):c.1060-20T>C
|
|
|
NM_000283.4(PDE6B):c.1060-9C>G
|
rs2109209673
|
|
NM_000283.4(PDE6B):c.1063T>G (p.Cys355Gly)
|
rs1413886785
|
|
NM_000283.4(PDE6B):c.1066A>G (p.Asn356Asp)
|
rs1736225856
|
|
NM_000283.4(PDE6B):c.1094T>C (p.Met365Thr)
|
rs2109209965
|
|
NM_000283.4(PDE6B):c.1102T>C (p.Phe368Leu)
|
rs2109210019
|
|
NM_000283.4(PDE6B):c.1107+13G>T
|
|
|
NM_000283.4(PDE6B):c.1107+15C>T
|
|
|
NM_000283.4(PDE6B):c.1107+19G>A
|
|
|
NM_000283.4(PDE6B):c.1107+6T>G
|
rs1736232746
|
|
NM_000283.4(PDE6B):c.1107+9C>G
|
rs2109210141
|
|
NM_000283.4(PDE6B):c.1107+9C>T
|
|
|
NM_000283.4(PDE6B):c.1108-5C>T
|
|
|
NM_000283.4(PDE6B):c.110A>G (p.Glu37Gly)
|
rs1208473466
|
|
NM_000283.4(PDE6B):c.1110A>G (p.Glu370=)
|
|
|
NM_000283.4(PDE6B):c.1114del (p.Ala372fs)
|
rs2109214218
|
|
NM_000283.4(PDE6B):c.1123G>A (p.Asp375Asn)
|
|
|
NM_000283.4(PDE6B):c.112G>A (p.Asp38Asn)
|
|
|
NM_000283.4(PDE6B):c.1135C>T (p.Leu379Phe)
|
rs2109214383
|
|
NM_000283.4(PDE6B):c.1140C>T (p.Ile380=)
|
rs2109214419
|
|
NM_000283.4(PDE6B):c.1143_1145del (p.Lys381del)
|
|
|
NM_000283.4(PDE6B):c.1146T>C (p.Asn382=)
|
|
|
NM_000283.4(PDE6B):c.1147G>A (p.Val383Met)
|
|
|
NM_000283.4(PDE6B):c.1150_1186del (p.Leu384fs)
|
rs754453234
|
|
NM_000283.4(PDE6B):c.1151T>C (p.Leu384Pro)
|
|
|
NM_000283.4(PDE6B):c.1159C>T (p.Pro387Ser)
|
|
|
NM_000283.4(PDE6B):c.1160C>T (p.Pro387Leu)
|
rs1392709495
|
|
NM_000283.4(PDE6B):c.1161C>T (p.Pro387=)
|
|
|
NM_000283.4(PDE6B):c.1164C>A (p.Ile388=)
|
rs779243382
|
|
NM_000283.4(PDE6B):c.1171AAG[1] (p.Lys392del)
|
rs757388131
|
|
NM_000283.4(PDE6B):c.1183A>G (p.Ile395Val)
|
rs2109214772
|
|
NM_000283.4(PDE6B):c.1192G>A (p.Val398Ile)
|
|
|
NM_000283.4(PDE6B):c.1206C>G (p.Tyr402Ter)
|
rs1553810330
|
|
NM_000283.4(PDE6B):c.1209C>T (p.Asn403=)
|
|
|
NM_000283.4(PDE6B):c.1210A>G (p.Arg404Gly)
|
rs1736342067
|
|
NM_000283.4(PDE6B):c.1215A>G (p.Lys405=)
|
|
|
NM_000283.4(PDE6B):c.1223A>C (p.Lys408Thr)
|
rs2109215015
|
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NM_000283.4(PDE6B):c.122C>G (p.Pro41Arg)
|
rs1231216242
|
|
NM_000283.4(PDE6B):c.1233C>T (p.Asp411=)
|
rs761301106
|
|
NM_000283.4(PDE6B):c.1234G>A (p.Glu412Lys)
|
|
|
NM_000283.4(PDE6B):c.1235A>G (p.Glu412Gly)
|
|
|
NM_000283.4(PDE6B):c.123G>T (p.Pro41=)
|
rs113459274
|
|
NM_000283.4(PDE6B):c.1242C>T (p.Asp414=)
|
|
|
NM_000283.4(PDE6B):c.1257+11G>A
|
rs2109215372
|
|
NM_000283.4(PDE6B):c.1257+13G>A
|
rs2109215402
|
|
NM_000283.4(PDE6B):c.1257+6C>A
|
|
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NM_000283.4(PDE6B):c.1258-19_1259dup
|
rs2109217636
|
|
NM_000283.4(PDE6B):c.1258-2A>G
|
rs1736402440
|
|
NM_000283.4(PDE6B):c.1258-5T>C
|
|
|
NM_000283.4(PDE6B):c.1258-9C>T
|
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NM_000283.4(PDE6B):c.1259C>A (p.Ser420Tyr)
|
|
|
NM_000283.4(PDE6B):c.125C>T (p.Pro42Leu)
|
|
|
NM_000283.4(PDE6B):c.1262T>C (p.Leu421Pro)
|
|
|
NM_000283.4(PDE6B):c.1267C>T (p.Gln423Ter)
|
|
|
NM_000283.4(PDE6B):c.1275G>A (p.Leu425=)
|
rs2109217925
|
|
NM_000283.4(PDE6B):c.1278C>T (p.Gly426=)
|
rs749366624
|
|
NM_000283.4(PDE6B):c.1280G>A (p.Trp427Ter)
|
rs771148614
|
|
NM_000283.4(PDE6B):c.1281G>A (p.Trp427Ter)
|
rs774502142
|
|
NM_000283.4(PDE6B):c.1290G>A (p.Met430Ile)
|
rs2109218110
|
|
NM_000283.4(PDE6B):c.1293C>T (p.Asn431=)
|
rs1257075612
|
|
NM_000283.4(PDE6B):c.1296C>G (p.Thr432=)
|
rs114100439
|
|
NM_000283.4(PDE6B):c.1306G>A (p.Asp436Asn)
|
rs750045921
|
|
NM_000283.4(PDE6B):c.1306G>T (p.Asp436Tyr)
|
|
|
NM_000283.4(PDE6B):c.1316A>G (p.Asn439Ser)
|
rs2109218320
|
|
NM_000283.4(PDE6B):c.1331G>A (p.Arg444His)
|
|
|
NM_000283.4(PDE6B):c.1331G>T (p.Arg444Leu)
|
|
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NM_000283.4(PDE6B):c.1365C>T (p.His455=)
|
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NM_000283.4(PDE6B):c.1366G>T (p.Val456Leu)
|
|
|
NM_000283.4(PDE6B):c.1371G>C (p.Lys457Asn)
|
rs2109218771
|
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NM_000283.4(PDE6B):c.1387A>C (p.Ile463Leu)
|
|
|
NM_000283.4(PDE6B):c.139C>T (p.Leu47Phe)
|
rs1378109538
|
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NM_000283.4(PDE6B):c.1401+110_1401+155del
|
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|
NM_000283.4(PDE6B):c.1401+17C>T
|
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NM_000283.4(PDE6B):c.1401+18G>A
|
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NM_000283.4(PDE6B):c.1401+18G>C
|
rs370241561
|
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NM_000283.4(PDE6B):c.1401+19T>C
|
|
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NM_000283.4(PDE6B):c.1401+20C>T
|
rs1736434131
|
|
NM_000283.4(PDE6B):c.1401+40_1401+85del
|
|
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NM_000283.4(PDE6B):c.1401+49_1401+140del
|
rs1736433555
|
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NM_000283.4(PDE6B):c.1401+4_1401+48del
|
rs768567008
|
|
NM_000283.4(PDE6B):c.1401+5_1401+52del
|
rs2109219043
|
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NM_000283.4(PDE6B):c.1401+7C>G
|
rs905040350
|
|
NM_000283.4(PDE6B):c.1401+7C>T
|
rs905040350
|
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NM_000283.4(PDE6B):c.1401G>A (p.Leu467=)
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NM_000283.4(PDE6B):c.1402-1G>C
|
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NM_000283.4(PDE6B):c.1402-20A>G
|
rs747157289
|
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NM_000283.4(PDE6B):c.1402-5T>C
|
|
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NM_000283.4(PDE6B):c.1403C>T (p.Pro468Leu)
|
rs1420482878
|
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NM_000283.4(PDE6B):c.1407C>A (p.Thr469=)
|
|
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NM_000283.4(PDE6B):c.1430C>G (p.Pro477Arg)
|
rs765743401
|
|
NM_000283.4(PDE6B):c.1432G>A (p.Ala478Thr)
|
|
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NM_000283.4(PDE6B):c.1440C>T (p.Cys480=)
|
rs755308738
|
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NM_000283.4(PDE6B):c.1441G>T (p.Asp481Tyr)
|
|
|
NM_000283.4(PDE6B):c.1450G>A (p.Glu484Lys)
|
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NM_000283.4(PDE6B):c.1458C>T (p.Gly486=)
|
|
|
NM_000283.4(PDE6B):c.1467+12G>C
|
|
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NM_000283.4(PDE6B):c.1467+1G>T
|
rs527236089
|
|
NM_000283.4(PDE6B):c.1467+8C>A
|
|
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NM_000283.4(PDE6B):c.1468-2A>G
|
rs763371769
|
|
NM_000283.4(PDE6B):c.1471G>A (p.Glu491Lys)
|
rs2109242332
|
|
NM_000283.4(PDE6B):c.1485dup (p.Pro496fs)
|
rs1360937549
|
|
NM_000283.4(PDE6B):c.1488CAC[1] (p.Thr498del)
|
rs1553812485
|
|
NM_000283.4(PDE6B):c.1488dup (p.Thr497fs)
|
rs730880317
|
|
NM_000283.4(PDE6B):c.1498G>C (p.Asp500His)
|
rs1287509484
|
|
NM_000283.4(PDE6B):c.1498G>T (p.Asp500Tyr)
|
rs1287509484
|
|
NM_000283.4(PDE6B):c.1505A>G (p.Tyr502Cys)
|
rs2109242586
|
|
NM_000283.4(PDE6B):c.1507G>C (p.Glu503Gln)
|
rs758303497
|
|
NM_000283.4(PDE6B):c.1514A>C (p.His505Pro)
|
|
|
NM_000283.4(PDE6B):c.1526T>A (p.Leu509Gln)
|
|
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NM_000283.4(PDE6B):c.1532G>T (p.Cys511Phe)
|
|
|
NM_000283.4(PDE6B):c.1538A>C (p.Glu513Ala)
|
rs1307178553
|
|
NM_000283.4(PDE6B):c.1540C>G (p.Leu514Val)
|
rs780830241
|
|
NM_000283.4(PDE6B):c.1559G>A (p.Gly520Asp)
|
|
|
NM_000283.4(PDE6B):c.1568T>G (p.Met523Arg)
|
|
|
NM_000283.4(PDE6B):c.1569G>T (p.Met523Ile)
|
|
|
NM_000283.4(PDE6B):c.1572del (p.Tyr525fs)
|
|
|
NM_000283.4(PDE6B):c.1576G>A (p.Glu526Lys)
|
rs527236091
|
|
NM_000283.4(PDE6B):c.1584C>A (p.Gly528=)
|
rs145273613
|
|
NM_000283.4(PDE6B):c.1584C>T (p.Gly528=)
|
|
|
NM_000283.4(PDE6B):c.1592G>A (p.Arg531Gln)
|
rs144664551
|
|
NM_000283.4(PDE6B):c.1592G>C (p.Arg531Pro)
|
rs144664551
|
|
NM_000283.4(PDE6B):c.160GAG[1] (p.Glu55del)
|
rs2109112982
|
|
NM_000283.4(PDE6B):c.1612G>A (p.Glu538Lys)
|
|
|
NM_000283.4(PDE6B):c.1614+7G>A
|
rs1273222836
|
|
NM_000283.4(PDE6B):c.1615-10G>A
|
|
|
NM_000283.4(PDE6B):c.1615-11G>C
|
rs934976363
|
|
NM_000283.4(PDE6B):c.1615-12C>T
|
|
|
NM_000283.4(PDE6B):c.1615-16C>A
|
|
|
NM_000283.4(PDE6B):c.1615-1G>C
|
rs2109252915
|
|
NM_000283.4(PDE6B):c.1620G>A (p.Leu540=)
|
|
|
NM_000283.4(PDE6B):c.1621G>A (p.Val541Met)
|
|
|
NM_000283.4(PDE6B):c.1644C>A (p.Ser548Arg)
|
|
|
NM_000283.4(PDE6B):c.1660A>G (p.Ile554Val)
|
rs1293093659
|
|
NM_000283.4(PDE6B):c.1662C>G (p.Ile554Met)
|
|
|
NM_000283.4(PDE6B):c.1664C>G (p.Thr555Ser)
|
|
|
NM_000283.4(PDE6B):c.1681C>T (p.His561Tyr)
|
|
|
NM_000283.4(PDE6B):c.1693G>A (p.Val565Met)
|
|
|
NM_000283.4(PDE6B):c.169_239dup (p.Leu83fs)
|
rs1553801591
|
|
NM_000283.4(PDE6B):c.1717C>T (p.Leu573Phe)
|
|
|
NM_000283.4(PDE6B):c.1722+14_1722+37dup
|
rs750408903
|
|
NM_000283.4(PDE6B):c.1723-13C>T
|
|
|
NM_000283.4(PDE6B):c.1723-18G>T
|
rs1737224697
|
|
NM_000283.4(PDE6B):c.1723-2A>G
|
|
|
NM_000283.4(PDE6B):c.1725C>T (p.Thr575=)
|
rs764517248
|
|
NM_000283.4(PDE6B):c.1727G>A (p.Gly576Asp)
|
|
|
NM_000283.4(PDE6B):c.1740C>T (p.Ser580=)
|
rs2109255059
|
|
NM_000283.4(PDE6B):c.1745A>G (p.Tyr582Cys)
|
rs779222916
|
|
NM_000283.4(PDE6B):c.1749G>A (p.Thr583=)
|
rs139938205
|
|
NM_000283.4(PDE6B):c.1751A>T (p.Asp584Val)
|
rs2109255194
|
|
NM_000283.4(PDE6B):c.1752C>T (p.Asp584=)
|
rs1737231745
|
|
NM_000283.4(PDE6B):c.1764C>T (p.Phe588=)
|
|
|
NM_000283.4(PDE6B):c.1765dup (p.Ala589fs)
|
rs2109255277
|
|
NM_000283.4(PDE6B):c.1768A>G (p.Met590Val)
|
|
|
NM_000283.4(PDE6B):c.1769T>C (p.Met590Thr)
|
|
|
NM_000283.4(PDE6B):c.1779C>A (p.Ala593=)
|
rs769147926
|
|
NM_000283.4(PDE6B):c.177G>A (p.Leu59=)
|
|
|
NM_000283.4(PDE6B):c.1781G>T (p.Gly594Val)
|
rs766049601
|
|
NM_000283.4(PDE6B):c.1804C>G (p.Arg602Gly)
|
rs754298498
|
|
NM_000283.4(PDE6B):c.1810A>T (p.Thr604Ser)
|
rs1737239664
|
|
NM_000283.4(PDE6B):c.1831A>G (p.Lys611Glu)
|
|
|
NM_000283.4(PDE6B):c.1832+1G>T
|
rs370758397
|
|
NM_000283.4(PDE6B):c.1832+237_1832+238del
|
rs36093261
|
|
NM_000283.4(PDE6B):c.1832+238del
|
rs36093261
|
|
NM_000283.4(PDE6B):c.1832+238dup
|
rs36093261
|
|
NM_000283.4(PDE6B):c.1833-15C>G
|
|
|
NM_000283.4(PDE6B):c.1833-1G>C
|
rs1737312210
|
|
NM_000283.4(PDE6B):c.1833-53G>T
|
|
|
NM_000283.4(PDE6B):c.1833G>A (p.Lys611=)
|
|
|
NM_000283.4(PDE6B):c.1833G>C (p.Lys611Asn)
|
|
|
NM_000283.4(PDE6B):c.1841del (p.Asn614fs)
|
|
|
NM_000283.4(PDE6B):c.1841dup (p.Asn614fs)
|
rs747970185
|
|
NM_000283.4(PDE6B):c.1844C>T (p.Pro615Leu)
|
|
|
NM_000283.4(PDE6B):c.1860C>T (p.His620=)
|
|
|
NM_000283.4(PDE6B):c.1862G>T (p.Gly621Val)
|
|
|
NM_000283.4(PDE6B):c.1863CTC[1] (p.Ser623del)
|
rs1737317313
|
|
NM_000283.4(PDE6B):c.1866C>T (p.Ser622=)
|
rs2109258518
|
|
NM_000283.4(PDE6B):c.187G>C (p.Val63Leu)
|
|
|
NM_000283.4(PDE6B):c.1885C>T (p.His629Tyr)
|
|
|
NM_000283.4(PDE6B):c.1896T>C (p.Phe632=)
|
rs1737323722
|
|
NM_000283.4(PDE6B):c.1898G>A (p.Gly633Glu)
|
|
|
NM_000283.4(PDE6B):c.1909C>A (p.Leu637Ile)
|
|
|
NM_000283.4(PDE6B):c.1913C>G (p.Ser638Trp)
|
rs767873714
|
|
NM_000283.4(PDE6B):c.1920+13A>G
|
|
|
NM_000283.4(PDE6B):c.1920+9del
|
rs2109258968
|
|
NM_000283.4(PDE6B):c.1921-13A>G
|
|
|
NM_000283.4(PDE6B):c.1921-15G>C
|
|
|
NM_000283.4(PDE6B):c.1921-1G>A
|
|
|
NM_000283.4(PDE6B):c.1921-2A>G
|
rs1469569680
|
|
NM_000283.4(PDE6B):c.1921-4G>A
|
rs1231048243
|
|
NM_000283.4(PDE6B):c.1921-9C>G
|
rs1577301137
|
|
NM_000283.4(PDE6B):c.1922C>G (p.Thr641Ser)
|
rs1422340072
|
|
NM_000283.4(PDE6B):c.1923_1969delinsTCTGGG (p.Asn643fs)
|
rs869312177
|
|
NM_000283.4(PDE6B):c.1927_1967del (p.Asn643fs)
|
rs1296042817
|
|
NM_000283.4(PDE6B):c.1927_1969delinsGG (p.Asn643fs)
|
rs1737428529
|
|
NM_000283.4(PDE6B):c.1930A>G (p.Ile644Val)
|
rs746421870
|
|
NM_000283.4(PDE6B):c.1935C>A (p.Tyr645Ter)
|
rs1737429976
|
|
NM_000283.4(PDE6B):c.1936C>T (p.Gln646Ter)
|
|
|
NM_000283.4(PDE6B):c.1944G>A (p.Leu648=)
|
|
|
NM_000283.4(PDE6B):c.1949G>T (p.Arg650Leu)
|
|
|
NM_000283.4(PDE6B):c.1951C>G (p.Arg651Gly)
|
|
|
NM_000283.4(PDE6B):c.1952G>A (p.Arg651Gln)
|
|
|
NM_000283.4(PDE6B):c.1957C>T (p.His653Tyr)
|
rs2109262633
|
|
NM_000283.4(PDE6B):c.1964A>T (p.His655Leu)
|
|
|
NM_000283.4(PDE6B):c.1965C>T (p.His655=)
|
rs2109262734
|
|
NM_000283.4(PDE6B):c.1972C>T (p.His658Tyr)
|
rs2109262780
|
|
NM_000283.4(PDE6B):c.1973A>C (p.His658Pro)
|
rs1330095073
|
|
NM_000283.4(PDE6B):c.1991T>G (p.Ile664Ser)
|
rs1737440165
|
|
NM_000283.4(PDE6B):c.2001G>A (p.Thr667=)
|
rs1003542272
|
|
NM_000283.4(PDE6B):c.2001G>C (p.Thr667=)
|
|
|
NM_000283.4(PDE6B):c.2005C>T (p.Leu669=)
|
|
|
NM_000283.4(PDE6B):c.200A>G (p.Gln67Arg)
|
|
|
NM_000283.4(PDE6B):c.2021+14G>A
|
|
|
NM_000283.4(PDE6B):c.2021+2T>G
|
rs1577301589
|
|
NM_000283.4(PDE6B):c.2022-11C>T
|
|
|
NM_000283.4(PDE6B):c.2028A>G (p.Arg676=)
|
|
|
NM_000283.4(PDE6B):c.202G>A (p.Glu68Lys)
|
rs1258894644
|
|
NM_000283.4(PDE6B):c.2051A>T (p.Asp684Val)
|
|
|
NM_000283.4(PDE6B):c.2055G>C (p.Glu685Asp)
|
rs199531882
|
|
NM_000283.4(PDE6B):c.2072A>T (p.Asp691Val)
|
|
|
NM_000283.4(PDE6B):c.2082C>T (p.Ser694=)
|
|
|
NM_000283.4(PDE6B):c.2095C>A (p.Leu699Met)
|
|
|
NM_000283.4(PDE6B):c.2095C>T (p.Leu699=)
|
|
|
NM_000283.4(PDE6B):c.2096T>G (p.Leu699Arg)
|
rs1737497878
|
|
NM_000283.4(PDE6B):c.2097G>C (p.Leu699=)
|
|
|
NM_000283.4(PDE6B):c.2098_2103del (p.Ser700_Leu701del)
|
|
|
NM_000283.4(PDE6B):c.2110A>G (p.Thr704Ala)
|
|
|
NM_000283.4(PDE6B):c.2115G>A (p.Arg705=)
|
|
|
NM_000283.4(PDE6B):c.2115_2116delinsAT (p.Lys706Ter)
|
rs1737503567
|
|
NM_000283.4(PDE6B):c.2116A>G (p.Lys706Glu)
|
|
|
NM_000283.4(PDE6B):c.2117A>G (p.Lys706Arg)
|
|
|
NM_000283.4(PDE6B):c.2119G>A (p.Glu707Lys)
|
|
|
NM_000283.4(PDE6B):c.2125G>A (p.Val709Ile)
|
rs1737505080
|
|
NM_000283.4(PDE6B):c.2129+19G>A
|
rs1426463863
|
|
NM_000283.4(PDE6B):c.2129+5G>A
|
|
|
NM_000283.4(PDE6B):c.2129+9G>A
|
|
|
NM_000283.4(PDE6B):c.2130-16C>A
|
rs377216301
|
|
NM_000283.4(PDE6B):c.2130-16C>T
|
|
|
NM_000283.4(PDE6B):c.2138T>A (p.Met713Lys)
|
rs371322951
|
|
NM_000283.4(PDE6B):c.2139G>A (p.Met713Ile)
|
|
|
NM_000283.4(PDE6B):c.2152G>A (p.Asp718Asn)
|
rs150639487
|
|
NM_000283.4(PDE6B):c.2152G>T (p.Asp718Tyr)
|
rs150639487
|
|
NM_000283.4(PDE6B):c.2154C>A (p.Asp718Glu)
|
rs748726198
|
|
NM_000283.4(PDE6B):c.2184C>T (p.Val728=)
|
|
|
NM_000283.4(PDE6B):c.2186A>C (p.Gln729Pro)
|
|
|
NM_000283.4(PDE6B):c.2189G>A (p.Ser730Asn)
|
|
|
NM_000283.4(PDE6B):c.2191A>G (p.Lys731Glu)
|
|
|
NM_000283.4(PDE6B):c.2193+15C>G
|
|
|
NM_000283.4(PDE6B):c.2193+18T>C
|
|
|
NM_000283.4(PDE6B):c.2193+1G>A
|
rs727504075
|
|
NM_000283.4(PDE6B):c.2193+1G>T
|
|
|
NM_000283.4(PDE6B):c.2193+2T>G
|
|
|
NM_000283.4(PDE6B):c.2194-14T>C
|
|
|
NM_000283.4(PDE6B):c.2194-20C>G
|
|
|
NM_000283.4(PDE6B):c.2196C>T (p.Val732=)
|
|
|
NM_000283.4(PDE6B):c.2197G>A (p.Ala733Thr)
|
|
|
NM_000283.4(PDE6B):c.2197G>C (p.Ala733Pro)
|
rs367879245
|
|
NM_000283.4(PDE6B):c.2197G>T (p.Ala733Ser)
|
rs367879245
|
|
NM_000283.4(PDE6B):c.2200C>T (p.Leu734Phe)
|
|
|
NM_000283.4(PDE6B):c.2210C>G (p.Ala737Gly)
|
rs574529843
|
|
NM_000283.4(PDE6B):c.2210C>T (p.Ala737Val)
|
|
|
NM_000283.4(PDE6B):c.2214T>C (p.Ala738=)
|
|
|
NM_000283.4(PDE6B):c.2226G>C (p.Glu742Asp)
|
rs1477762818
|
|
NM_000283.4(PDE6B):c.2227C>A (p.Gln743Lys)
|
rs1171957489
|
|
NM_000283.4(PDE6B):c.2243G>A (p.Arg748Lys)
|
rs749866009
|
|
NM_000283.4(PDE6B):c.2254G>C (p.Asp752His)
|
|
|
NM_000283.4(PDE6B):c.2257C>T (p.Gln753Ter)
|
rs779052095
|
|
NM_000283.4(PDE6B):c.2268+13_2268+14delinsAT
|
rs2109271734
|
|
NM_000283.4(PDE6B):c.2268+20C>G
|
rs201982527
|
|
NM_000283.4(PDE6B):c.2268+26A>T
|
rs76590730
|
|
NM_000283.4(PDE6B):c.2268+8C>T
|
|
|
NM_000283.4(PDE6B):c.2269-3C>T
|
|
|
NM_000283.4(PDE6B):c.2276T>A (p.Met759Lys)
|
rs1440621071
|
|
NM_000283.4(PDE6B):c.2291C>T (p.Ala764Val)
|
|
|
NM_000283.4(PDE6B):c.2296G>A (p.Glu766Lys)
|
|
|
NM_000283.4(PDE6B):c.2298G>T (p.Glu766Asp)
|
|
|
NM_000283.4(PDE6B):c.2323A>G (p.Ile775Val)
|
|
|
NM_000283.4(PDE6B):c.2331C>A (p.Phe777Leu)
|
rs35792756
|
|
NM_000283.4(PDE6B):c.2334G>C (p.Val778=)
|
|
|
NM_000283.4(PDE6B):c.2340A>C (p.Thr780=)
|
|
|
NM_000283.4(PDE6B):c.2352+2C>A
|
rs751661904
|
|
NM_000283.4(PDE6B):c.2353-13C>T
|
rs369466418
|
|
NM_000283.4(PDE6B):c.2353-18_2354del
|
rs1174120641
|
|
NM_000283.4(PDE6B):c.2353G>A (p.Glu785Lys)
|
rs1211131572
|
|
NM_000283.4(PDE6B):c.2353G>C (p.Glu785Gln)
|
|
|
NM_000283.4(PDE6B):c.2354A>T (p.Glu785Val)
|
rs1737975912
|
|
NM_000283.4(PDE6B):c.2362C>T (p.Arg788Cys)
|
rs954562282
|
|
NM_000283.4(PDE6B):c.2363G>T (p.Arg788Leu)
|
|
|
NM_000283.4(PDE6B):c.2370C>G (p.His790Gln)
|
|
|
NM_000283.4(PDE6B):c.2370C>T (p.His790=)
|
|
|
NM_000283.4(PDE6B):c.2391C>A (p.Phe797Leu)
|
rs143154045
|
|
NM_000283.4(PDE6B):c.2391C>T (p.Phe797=)
|
rs143154045
|
|
NM_000283.4(PDE6B):c.2396G>C (p.Arg799Pro)
|
rs546425862
|
|
NM_000283.4(PDE6B):c.2399T>C (p.Leu800Pro)
|
|
|
NM_000283.4(PDE6B):c.23C>T (p.Ala8Val)
|
|
|
NM_000283.4(PDE6B):c.2407A>G (p.Asn803Asp)
|
rs771338607
|
|
NM_000283.4(PDE6B):c.2412G>A (p.Arg804=)
|
rs1560141047
|
|
NM_000283.4(PDE6B):c.2427G>A (p.Ala809=)
|
|
|
NM_000283.4(PDE6B):c.2430G>A (p.Leu810=)
|
|
|
NM_000283.4(PDE6B):c.2439G>A (p.Glu813=)
|
rs1033900253
|
|
NM_000283.4(PDE6B):c.2442T>A (p.Tyr814Ter)
|
rs1577311264
|
|
NM_000283.4(PDE6B):c.2449A>G (p.Lys817Glu)
|
rs1737991897
|
|
NM_000283.4(PDE6B):c.2455A>T (p.Lys819Ter)
|
rs754557819
|
|
NM_000283.4(PDE6B):c.2457G>A (p.Lys819=)
|
|
|
NM_000283.4(PDE6B):c.2469G>A (p.Glu823=)
|
|
|
NM_000283.4(PDE6B):c.2470_2472del (p.Lys824del)
|
|
|
NM_000283.4(PDE6B):c.2470_2478del (p.Lys824_Glu826del)
|
rs752433299
|
|
NM_000283.4(PDE6B):c.2473GAG[3] (p.Glu828del)
|
rs777568669
|
|
NM_000283.4(PDE6B):c.2473GAG[5] (p.Glu828dup)
|
rs777568669
|
|
NM_000283.4(PDE6B):c.2476G>C (p.Glu826Gln)
|
rs368110918
|
|
NM_000283.4(PDE6B):c.247C>G (p.Leu83Val)
|
|
|
NM_000283.4(PDE6B):c.2492C>A (p.Ala831Glu)
|
|
|
NM_000283.4(PDE6B):c.2492C>T (p.Ala831Val)
|
|
|
NM_000283.4(PDE6B):c.2503+1G>T
|
|
|
NM_000283.4(PDE6B):c.2504-16C>T
|
|
|
NM_000283.4(PDE6B):c.250T>C (p.Cys84Arg)
|
rs1487940556
|
|
NM_000283.4(PDE6B):c.2514A>C (p.Glu838Asp)
|
rs2109297210
|
|
NM_000283.4(PDE6B):c.2517T>A (p.Ile839=)
|
rs2109297216
|
|
NM_000283.4(PDE6B):c.2526C>G (p.Gly842=)
|
|
|
NM_000283.4(PDE6B):c.2534C>A (p.Ala845Glu)
|
|
|
NM_000283.4(PDE6B):c.2537C>A (p.Pro846His)
|
rs540571001
|
|
NM_000283.4(PDE6B):c.2547A>G (p.Ser849=)
|
|
|
NM_000283.4(PDE6B):c.2550C>T (p.Thr850=)
|
|
|
NM_000283.4(PDE6B):c.255C>T (p.Thr85=)
|
|
|
NM_000283.4(PDE6B):c.2562G>A (p.Leu854=)
|
rs2109297456
|
|
NM_000283.4(PDE6B):c.2563T>A (p.Ter855Arg)
|
|
|
NM_000283.4(PDE6B):c.2563T>C (p.Ter855Arg)
|
rs1738347357
|
|
NM_000283.4(PDE6B):c.2565A>C (p.Ter855Cys)
|
rs2109297480
|
|
NM_000283.4(PDE6B):c.25del (p.Arg9fs)
|
rs2109112564
|
|
NM_000283.4(PDE6B):c.267C>G (p.Ala89=)
|
rs147181781
|
|
NM_000283.4(PDE6B):c.268G>A (p.Asp90Asn)
|
|
|
NM_000283.4(PDE6B):c.273C>T (p.Arg91=)
|
|
|
NM_000283.4(PDE6B):c.278G>C (p.Ser93Thr)
|
rs1331925035
|
|
NM_000283.4(PDE6B):c.284T>C (p.Phe95Ser)
|
rs1734071567
|
|
NM_000283.4(PDE6B):c.286A>G (p.Met96Val)
|
|
|
NM_000283.4(PDE6B):c.298C>T (p.Arg100Cys)
|
rs537263212
|
|
NM_000283.4(PDE6B):c.299G>T (p.Arg100Leu)
|
rs555600300
|
|
NM_000283.4(PDE6B):c.304G>T (p.Gly102Cys)
|
|
|
NM_000283.4(PDE6B):c.305G>A (p.Gly102Asp)
|
rs762799836
|
|
NM_000283.4(PDE6B):c.30C>T (p.Ser10=)
|
|
|
NM_000283.4(PDE6B):c.312C>T (p.Ala104=)
|
rs754551261
|
|
NM_000283.4(PDE6B):c.319G>A (p.Ala107Thr)
|
|
|
NM_000283.4(PDE6B):c.348C>T (p.Asp116=)
|
|
|
NM_000283.4(PDE6B):c.363C>A (p.Asp121Glu)
|
|
|
NM_000283.4(PDE6B):c.376C>T (p.Pro126Ser)
|
rs1200186277
|
|
NM_000283.4(PDE6B):c.377C>G (p.Pro126Arg)
|
|
|
NM_000283.4(PDE6B):c.378del (p.Asp127fs)
|
|
|
NM_000283.4(PDE6B):c.387G>A (p.Glu129=)
|
|
|
NM_000283.4(PDE6B):c.415G>A (p.Val139Met)
|
|
|
NM_000283.4(PDE6B):c.415G>T (p.Val139Leu)
|
rs545001524
|
|
NM_000283.4(PDE6B):c.417G>C (p.Val139=)
|
rs1262548046
|
|
NM_000283.4(PDE6B):c.420C>T (p.Gly140=)
|
rs749479647
|
|
NM_000283.4(PDE6B):c.424G>T (p.Val142Leu)
|
|
|
NM_000283.4(PDE6B):c.427del (p.Ala143fs)
|
|
|
NM_000283.4(PDE6B):c.428C>A (p.Ala143Asp)
|
rs759382635
|
|
NM_000283.4(PDE6B):c.431A>C (p.Gln144Pro)
|
rs2109113960
|
|
NM_000283.4(PDE6B):c.451G>A (p.Val151Ile)
|
|
|
NM_000283.4(PDE6B):c.453C>T (p.Val151=)
|
|
|
NM_000283.4(PDE6B):c.454G>A (p.Glu152Lys)
|
|
|
NM_000283.4(PDE6B):c.462G>A (p.Val154=)
|
|
|
NM_000283.4(PDE6B):c.468+12_468+15dup
|
rs2109114110
|
|
NM_000283.4(PDE6B):c.468+1G>A
|
|
|
NM_000283.4(PDE6B):c.468+5G>A
|
|
|
NM_000283.4(PDE6B):c.469-12C>G
|
|
|
NM_000283.4(PDE6B):c.469-15C>A
|
rs2109132958
|
|
NM_000283.4(PDE6B):c.469-6C>A
|
|
|
NM_000283.4(PDE6B):c.469-6C>T
|
rs555822869
|
|
NM_000283.4(PDE6B):c.469T>C (p.Cys157Arg)
|
rs757406419
|
|
NM_000283.4(PDE6B):c.477C>T (p.His159=)
|
rs2109133035
|
|
NM_000283.4(PDE6B):c.491C>G (p.Ala164Gly)
|
rs746748194
|
|
NM_000283.4(PDE6B):c.495C>T (p.Asp165=)
|
|
|
NM_000283.4(PDE6B):c.498G>C (p.Glu166Asp)
|
|
|
NM_000283.4(PDE6B):c.49G>T (p.Asp17Tyr)
|
|
|
NM_000283.4(PDE6B):c.508T>C (p.Tyr170His)
|
rs2109133162
|
|
NM_000283.4(PDE6B):c.515C>A (p.Thr172Lys)
|
|
|
NM_000283.4(PDE6B):c.530C>T (p.Ala177Val)
|
|
|
NM_000283.4(PDE6B):c.540C>A (p.Ile180=)
|
|
|
NM_000283.4(PDE6B):c.543G>A (p.Met181Ile)
|
rs2109133232
|
|
NM_000283.4(PDE6B):c.549C>T (p.Gly183=)
|
|
|
NM_000283.4(PDE6B):c.551A>G (p.Lys184Arg)
|
|
|
NM_000283.4(PDE6B):c.555C>G (p.Asp185Glu)
|
|
|
NM_000283.4(PDE6B):c.555C>T (p.Asp185=)
|
rs757424904
|
|
NM_000283.4(PDE6B):c.555CGT[1] (p.Val187del)
|
rs2109133264
|
|
NM_000283.4(PDE6B):c.556G>A (p.Val186Ile)
|
|
|
NM_000283.4(PDE6B):c.556G>T (p.Val186Phe)
|
rs779085612
|
|
NM_000283.4(PDE6B):c.563C>T (p.Ala188Val)
|
|
|
NM_000283.4(PDE6B):c.570C>G (p.Ile190Met)
|
|
|
NM_000283.4(PDE6B):c.578T>C (p.Val193Ala)
|
|
|
NM_000283.4(PDE6B):c.582C>T (p.Asn194=)
|
|
|
NM_000283.4(PDE6B):c.594C>G (p.Gly198=)
|
rs201222077
|
|
NM_000283.4(PDE6B):c.609CGAAGA[1] (p.204ED[1])
|
rs2109133427
|
|
NM_000283.4(PDE6B):c.610G>A (p.Glu204Lys)
|
rs765804881
|
|
NM_000283.4(PDE6B):c.617A>G (p.Glu206Gly)
|
rs913609037
|
|
NM_000283.4(PDE6B):c.621+10G>T
|
|
|
NM_000283.4(PDE6B):c.621+14dup
|
rs756539666
|
|
NM_000283.4(PDE6B):c.621+16_621+29del
|
rs778367434
|
|
NM_000283.4(PDE6B):c.621+17C>G
|
rs374771421
|
|
NM_000283.4(PDE6B):c.621+1G>A
|
|
|
NM_000283.4(PDE6B):c.621+9G>A
|
|
|
NM_000283.4(PDE6B):c.621+9G>T
|
rs1360878639
|
|
NM_000283.4(PDE6B):c.622-15C>T
|
rs2109137085
|
|
NM_000283.4(PDE6B):c.622-1G>T
|
|
|
NM_000283.4(PDE6B):c.622-8T>C
|
|
|
NM_000283.4(PDE6B):c.632A>C (p.Lys211Thr)
|
|
|
NM_000283.4(PDE6B):c.634T>C (p.Tyr212His)
|
|
|
NM_000283.4(PDE6B):c.664A>T (p.Ile222Phe)
|
|
|
NM_000283.4(PDE6B):c.682C>T (p.Leu228Phe)
|
rs201584824
|
|
NM_000283.4(PDE6B):c.698C>A (p.Thr233Lys)
|
|
|
NM_000283.4(PDE6B):c.703_704insT (p.Arg235fs)
|
rs2109137293
|
|
NM_000283.4(PDE6B):c.704G>C (p.Arg235Pro)
|
rs757918699
|
|
NM_000283.4(PDE6B):c.705C>T (p.Arg235=)
|
rs760596729
|
|
NM_000283.4(PDE6B):c.710A>G (p.Gln237Arg)
|
|
|
NM_000283.4(PDE6B):c.712-10del
|
|
|
NM_000283.4(PDE6B):c.712-135A>G
|
rs9992641
|
|
NM_000283.4(PDE6B):c.718C>T (p.Leu240=)
|
|
|
NM_000283.4(PDE6B):c.725C>G (p.Ser242Trp)
|
rs757587074
|
|
NM_000283.4(PDE6B):c.726G>T (p.Ser242=)
|
|
|
NM_000283.4(PDE6B):c.74A>G (p.Lys25Arg)
|
|
|
NM_000283.4(PDE6B):c.754G>C (p.Asp252His)
|
|
|
NM_000283.4(PDE6B):c.754G>T (p.Asp252Tyr)
|
rs1210313417
|
|
NM_000283.4(PDE6B):c.778G>T (p.Ala260Ser)
|
|
|
NM_000283.4(PDE6B):c.786C>T (p.Tyr262=)
|
rs767006704
|
|
NM_000283.4(PDE6B):c.788C>A (p.Thr263Lys)
|
rs755828989
|
|
NM_000283.4(PDE6B):c.78A>G (p.Lys26=)
|
rs2109112708
|
|
NM_000283.4(PDE6B):c.797C>T (p.Ala266Val)
|
|
|
NM_000283.4(PDE6B):c.798C>G (p.Ala266=)
|
|
|
NM_000283.4(PDE6B):c.801C>A (p.Tyr267Ter)
|
|
|
NM_000283.4(PDE6B):c.801C>T (p.Tyr267=)
|
rs781375358
|
|
NM_000283.4(PDE6B):c.807C>T (p.Asn269=)
|
|
|
NM_000283.4(PDE6B):c.80_81del (p.Leu27fs)
|
rs1734053435
|
|
NM_000283.4(PDE6B):c.810C>A (p.Cys270Ter)
|
rs145605739
|
|
NM_000283.4(PDE6B):c.810C>T (p.Cys270=)
|
rs145605739
|
|
NM_000283.4(PDE6B):c.811G>C (p.Glu271Gln)
|
rs374156343
|
|
NM_000283.4(PDE6B):c.812A>C (p.Glu271Ala)
|
rs1365261261
|
|
NM_000283.4(PDE6B):c.812A>G (p.Glu271Gly)
|
rs1365261261
|
|
NM_000283.4(PDE6B):c.816G>A (p.Arg272=)
|
|
|
NM_000283.4(PDE6B):c.821C>T (p.Ser274Phe)
|
|
|
NM_000283.4(PDE6B):c.827G>A (p.Gly276Asp)
|
rs1735860141
|
|
NM_000283.4(PDE6B):c.842C>G (p.Thr281Ser)
|
|
|
NM_000283.4(PDE6B):c.847G>A (p.Glu283Lys)
|
|
|
NM_000283.4(PDE6B):c.851A>T (p.Lys284Met)
|
rs2109193002
|
|
NM_000283.4(PDE6B):c.852+1G>A
|
|
|
NM_000283.4(PDE6B):c.852+6G>T
|
rs1416587355
|
|
NM_000283.4(PDE6B):c.863_864del (p.Asp288fs)
|
rs1412122281
|
|
NM_000283.4(PDE6B):c.864C>T (p.Asp288=)
|
|
|
NM_000283.4(PDE6B):c.865G>A (p.Val289Met)
|
|
|
NM_000283.4(PDE6B):c.865G>C (p.Val289Leu)
|
rs377200859
|
|
NM_000283.4(PDE6B):c.86C>G (p.Pro29Arg)
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NM_000283.4(PDE6B):c.876G>A (p.Val292=)
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NM_000283.4(PDE6B):c.879G>C (p.Leu293=)
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NM_000283.4(PDE6B):c.87T>G (p.Pro29=)
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rs1456167355
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NM_000283.4(PDE6B):c.881T>C (p.Met294Thr)
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rs2109193857
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NM_000283.4(PDE6B):c.886G>T (p.Glu296Ter)
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rs1064797304
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NM_000283.4(PDE6B):c.892C>A (p.Gln298Lys)
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rs121918579
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NM_000283.4(PDE6B):c.896C>T (p.Pro299Leu)
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NM_000283.4(PDE6B):c.897G>A (p.Pro299=)
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NM_000283.4(PDE6B):c.910C>T (p.Arg304Cys)
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NM_000283.4(PDE6B):c.927+11G>A
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NM_000283.4(PDE6B):c.927+18G>A
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NM_000283.4(PDE6B):c.927+4A>C
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NM_000283.4(PDE6B):c.927+7C>G
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NM_000283.4(PDE6B):c.927+7C>T
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NM_000283.4(PDE6B):c.927+9T>C
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rs2109194409
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NM_000283.4(PDE6B):c.928-19_928-18insAGCAGAA
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rs750057276
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NM_000283.4(PDE6B):c.928-9_940dup
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rs539992414
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NM_000283.4(PDE6B):c.933T>C (p.Ile311=)
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rs2109199700
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NM_000283.4(PDE6B):c.936C>T (p.Val312=)
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NM_000283.4(PDE6B):c.940T>C (p.Tyr314His)
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NM_000283.4(PDE6B):c.946G>A (p.Val316Met)
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NM_000283.4(PDE6B):c.951C>T (p.Ile317=)
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NM_000283.4(PDE6B):c.957_958delinsTA (p.Val320Ile)
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NM_000283.4(PDE6B):c.958= (p.Val320=)
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NM_000283.4(PDE6B):c.95T>A (p.Val32Glu)
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NM_000283.4(PDE6B):c.973GAG[1] (p.Glu326del)
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rs913866737
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NM_000283.4(PDE6B):c.976G>A (p.Glu326Lys)
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NM_000283.4(PDE6B):c.978G>A (p.Glu326=)
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rs1045501559
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NM_000283.4(PDE6B):c.981C>A (p.Ile327=)
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rs2109200115
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NM_000283.4(PDE6B):c.992+1G>C
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rs898144119
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NM_000283.4(PDE6B):c.992+32G>C
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rs10027549
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NM_000283.4(PDE6B):c.993-49G>C
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rs115328178
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NM_000283.4(PDE6B):c.993-4A>G
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rs1449054137
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NM_000283.4(PDE6B):c.9C>T (p.Leu3=)
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