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.*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.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.1401+4C>T
|
rs113246945
|
0.00077
|
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.1218C>T (p.Asp406=)
|
rs148190219
|
0.00061
|
NM_000283.4(PDE6B):c.1296C>T (p.Thr432=)
|
rs114100439
|
0.00048
|
NM_000283.4(PDE6B):c.905G>A (p.Gly302Asp)
|
rs146646008
|
0.00041
|
NM_000283.4(PDE6B):c.2129+16G>A
|
rs202218348
|
0.00034
|
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.2352+14G>A
|
rs752968664
|
0.00010
|
NM_000283.4(PDE6B):c.726G>A (p.Ser242=)
|
rs200975847
|
0.00009
|
NM_000283.4(PDE6B):c.2268+20C>A
|
rs201982527
|
0.00008
|
NM_000283.4(PDE6B):c.852+15G>A
|
rs371254584
|
0.00006
|
NM_000283.4(PDE6B):c.132C>G (p.Cys44Trp)
|
rs199974771
|
0.00003
|
NM_000283.4(PDE6B):c.1374C>T (p.Cys458=)
|
rs541985727
|
0.00001
|
NM_000283.4(PDE6B):c.1806C>T (p.Arg602=)
|
rs140849790
|
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
|
|
|
NM_000283.3:c.+12A>G
|
|
|
NM_000283.4(PDE6B):c.*153dup
|
rs374413250
|
|
NM_000283.4(PDE6B):c.1401+4_1401+48del
|
rs768567008
|
|
NM_000283.4(PDE6B):c.1401+5_1401+52del
|
rs2109219043
|
|
NM_000283.4(PDE6B):c.1832+238del
|
rs36093261
|
|
NM_000283.4(PDE6B):c.1832+238dup
|
rs36093261
|
|
NM_000283.4(PDE6B):c.1896T>C (p.Phe632=)
|
rs1737323722
|
|
NM_000283.4(PDE6B):c.621+14dup
|
rs756539666
|
|
NM_000283.4(PDE6B):c.712-10del
|
|
|
NM_000283.4(PDE6B):c.712-135A>G
|
rs9992641
|
|
NM_000283.4(PDE6B):c.927+18G>A
|
|
|
NM_000283.4(PDE6B):c.928-9_940dup
|
rs539992414
|
|
NM_000283.4(PDE6B):c.992+32G>C
|
rs10027549
|
|