NM_000322.5(PRPH2):c.929G>A (p.Arg310Lys)
|
rs425876
|
0.92861
|
NM_016247.4(IMPG2):c.3381C>T (p.Leu1127=)
|
rs348867
|
0.80304
|
NM_000322.5(PRPH2):c.910C>G (p.Gln304Glu)
|
rs390659
|
0.78498
|
NM_000322.5(PRPH2):c.1013A>G (p.Asp338Gly)
|
rs434102
|
0.77412
|
NM_000322.5(PRPH2):c.*1375C>T
|
rs405043
|
0.77180
|
NM_000322.5(PRPH2):c.*1357C>T
|
rs405059
|
0.77171
|
NM_000322.5(PRPH2):c.*543G>A
|
rs432753
|
0.77168
|
NM_000322.5(PRPH2):c.*762C>T
|
rs1758213
|
0.77165
|
NM_016247.4(IMPG2):c.85+25T>G
|
rs573908
|
0.71056
|
NM_016247.4(IMPG2):c.2021C>T (p.Thr674Ile)
|
rs571391
|
0.64801
|
NM_000322.5(PRPH2):c.318T>C (p.Val106=)
|
rs7764439
|
0.59853
|
NM_001563.4(IMPG1):c.1552C>G (p.His518Asp)
|
rs3734311
|
0.46014
|
NM_000322.5(PRPH2):c.*13C>T
|
rs361524
|
0.27666
|
NM_000322.5(PRPH2):c.*145G>A
|
rs835
|
0.24219
|
NM_000322.5(PRPH2):c.*898C>A
|
rs3176988
|
0.22759
|
NM_000322.5(PRPH2):c.*1001C>A
|
rs45550933
|
0.22757
|
NM_001563.4(IMPG1):c.2132G>A (p.Arg711His)
|
rs3734313
|
0.16006
|
NM_000322.5(PRPH2):c.-11A>C
|
rs114062933
|
0.03391
|
NM_000322.5(PRPH2):c.*132C>T
|
rs77363417
|
0.02609
|
NM_000322.5(PRPH2):c.*174C>T
|
rs73426412
|
0.02603
|
NM_000322.5(PRPH2):c.*276G>C
|
rs76754927
|
0.02448
|
NM_000322.5(PRPH2):c.*839G>A
|
rs73426405
|
0.02142
|
NM_016247.4(IMPG2):c.828+17_828+18insC
|
rs199824990
|
0.01356
|
NM_000322.5(PRPH2):c.*1230C>T
|
rs79663042
|
0.01163
|
NM_000322.5(PRPH2):c.*1565G>A
|
rs41273818
|
0.00908
|
NM_000322.5(PRPH2):c.*1534T>C
|
rs115252154
|
0.00821
|
NM_000322.5(PRPH2):c.*989G>A
|
rs142990052
|
0.00657
|
NM_000322.5(PRPH2):c.*1313G>A
|
rs115451690
|
0.00625
|
NM_002473.6(MYH9):c.136C>T (p.Leu46Phe)
|
rs147122501
|
0.00554
|
NM_000322.5(PRPH2):c.133C>T (p.Leu45Phe)
|
rs61755770
|
0.00414
|
NM_000322.5(PRPH2):c.*509G>A
|
rs56194662
|
0.00277
|
NM_000322.5(PRPH2):c.*1524G>C
|
rs183409467
|
0.00247
|
NM_000322.5(PRPH2):c.-60C>T
|
rs144011444
|
0.00211
|
NM_000322.5(PRPH2):c.*1687C>T
|
rs139177846
|
0.00186
|
NM_000322.5(PRPH2):c.*1372C>A
|
rs56385342
|
0.00080
|
NM_000322.5(PRPH2):c.*351G>A
|
rs551934443
|
0.00075
|
NM_000322.5(PRPH2):c.*152G>A
|
rs113384495
|
0.00073
|
NM_000322.5(PRPH2):c.708C>T (p.Tyr236=)
|
rs61755813
|
0.00062
|
NM_000322.5(PRPH2):c.249C>T (p.Tyr83=)
|
rs61755775
|
0.00053
|
NM_000322.5(PRPH2):c.*1408G>C
|
rs573667549
|
0.00050
|
NM_000322.5(PRPH2):c.909C>T (p.Ser303=)
|
rs144111167
|
0.00049
|
NM_000322.5(PRPH2):c.938C>T (p.Pro313Leu)
|
rs61748434
|
0.00044
|
NM_000322.5(PRPH2):c.*20C>T
|
rs180775924
|
0.00042
|
NM_000322.5(PRPH2):c.*592A>T
|
rs573416213
|
0.00042
|
NM_000322.5(PRPH2):c.94A>G (p.Ile32Val)
|
rs61755767
|
0.00026
|
NM_000322.5(PRPH2):c.*661G>A
|
rs753202254
|
0.00020
|
NM_000322.5(PRPH2):c.*1299C>T
|
rs535380944
|
0.00019
|
NM_000322.5(PRPH2):c.367C>T (p.Arg123Trp)
|
rs563581127
|
0.00019
|
NM_000322.5(PRPH2):c.37C>T (p.Arg13Trp)
|
rs61754402
|
0.00018
|
NM_000322.5(PRPH2):c.-166G>A
|
rs886061407
|
0.00017
|
NM_000322.5(PRPH2):c.252C>T (p.Asp84=)
|
rs139936445
|
0.00017
|
NM_016247.4(IMPG2):c.745C>T (p.Leu249Phe)
|
rs376443291
|
0.00015
|
NM_000322.5(PRPH2):c.*1079G>A
|
rs572613522
|
0.00010
|
NM_000322.5(PRPH2):c.*350C>T
|
rs769850707
|
0.00009
|
NM_000322.5(PRPH2):c.*743G>A
|
rs941727712
|
0.00009
|
NM_000322.5(PRPH2):c.*626A>G
|
rs1383185417
|
0.00008
|
NM_000322.5(PRPH2):c.1008C>T (p.Gly336=)
|
rs752365478
|
0.00006
|
NM_000322.5(PRPH2):c.44A>G (p.Lys15Arg)
|
rs555112175
|
0.00006
|
NM_000322.5(PRPH2):c.888C>T (p.Pro296=)
|
rs183714869
|
0.00005
|
NM_001563.4(IMPG1):c.1519C>T (p.Arg507Ter)
|
rs367576664
|
0.00005
|
NM_000322.5(PRPH2):c.*1121A>C
|
rs187919973
|
0.00004
|
NM_000322.5(PRPH2):c.*417A>T
|
rs531859483
|
0.00004
|
NM_000322.5(PRPH2):c.*917G>A
|
rs185036139
|
0.00004
|
NM_000322.5(PRPH2):c.312C>T (p.Ile104=)
|
rs200009675
|
0.00004
|
NM_016247.4(IMPG2):c.370T>C (p.Phe124Leu)
|
rs201893545
|
0.00004
|
NM_000322.5(PRPH2):c.*692C>T
|
rs949736334
|
0.00003
|
NM_000322.5(PRPH2):c.-59G>A
|
rs886061405
|
0.00003
|
NM_000322.5(PRPH2):c.454A>G (p.Met152Val)
|
rs146703538
|
0.00002
|
NM_000322.5(PRPH2):c.801C>T (p.Val267=)
|
rs189358082
|
0.00002
|
NM_000322.5(PRPH2):c.955T>C (p.Phe319Leu)
|
rs139329966
|
0.00002
|
NM_001563.4(IMPG1):c.332G>A (p.Arg111Gln)
|
rs200194885
|
0.00002
|
NM_000322.5(PRPH2):c.*1000C>G
|
rs1367940496
|
0.00001
|
NM_000322.5(PRPH2):c.*1007C>A
|
rs886061400
|
0.00001
|
NM_000322.5(PRPH2):c.167A>G (p.Glu56Gly)
|
rs1351857575
|
0.00001
|
NM_000322.5(PRPH2):c.346G>T (p.Ala116Ser)
|
rs140227298
|
0.00001
|
NM_000322.5(PRPH2):c.374C>T (p.Ser125Leu)
|
rs772861671
|
0.00001
|
NM_000322.5(PRPH2):c.852C>A (p.Arg284=)
|
rs745807357
|
0.00001
|
NM_001563.4(IMPG1):c.461T>C (p.Leu154Pro)
|
rs713993047
|
0.00001
|
NM_016247.4(IMPG2):c.2636G>C (p.Ser879Thr)
|
rs774965996
|
0.00001
|
NM_016247.4(IMPG2):c.3262C>T (p.Arg1088Ter)
|
rs199867882
|
0.00001
|
NM_016247.4(IMPG2):c.513T>G (p.Tyr171Ter)
|
rs763295314
|
0.00001
|
NM_000322.5(PRPH2):c.*152G>C
|
rs113384495
|
|
NM_000322.5(PRPH2):c.*1533A>G
|
rs1799950043
|
|
NM_000322.5(PRPH2):c.*154C>T
|
rs886061403
|
|
NM_000322.5(PRPH2):c.*1580C>G
|
rs886061399
|
|
NM_000322.5(PRPH2):c.*213A>C
|
rs886061402
|
|
NM_000322.5(PRPH2):c.*797G>A
|
rs188694434
|
|
NM_000322.5(PRPH2):c.-116C>G
|
rs886061406
|
|
NM_000322.5(PRPH2):c.1024G>T (p.Ala342Ser)
|
rs1799983757
|
|
NM_000322.5(PRPH2):c.113del (p.Gly38fs)
|
rs61755769
|
|
NM_000322.5(PRPH2):c.246_249del (p.Cys82fs)
|
rs1761915143
|
|
NM_000322.5(PRPH2):c.2T>C (p.Met1Thr)
|
rs121918565
|
|
NM_000322.5(PRPH2):c.316_317del (p.Val106fs)
|
rs1562434117
|
|
NM_000322.5(PRPH2):c.422A>G (p.Tyr141Cys)
|
rs61755781
|
|
NM_000322.5(PRPH2):c.483C>T (p.Ile161=)
|
rs76989855
|
|
NM_000322.5(PRPH2):c.484G>A (p.Glu162Lys)
|
rs769939935
|
|
NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln)
|
rs61755793
|
|
NM_000322.5(PRPH2):c.530T>G (p.Ile177Ser)
|
|
|
NM_000322.5(PRPH2):c.629C>G (p.Pro210Arg)
|
rs61755798
|
|
NM_000322.5(PRPH2):c.636C>G (p.Ser212Arg)
|
rs1554269071
|
|
NM_000322.5(PRPH2):c.658C>T (p.Arg220Trp)
|
rs61755809
|
|
NM_000322.5(PRPH2):c.668T>C (p.Ile223Thr)
|
rs1800114220
|
|
NM_000322.5(PRPH2):c.736T>C (p.Trp246Arg)
|
rs61755817
|
|
NM_000322.5(PRPH2):c.774C>A (p.Tyr258Ter)
|
rs121918564
|
|
NM_000322.5(PRPH2):c.824_828+3delinsCATTTGGGCTCCTCATTTGG
|
rs2152005182
|
|
NM_000322.5(PRPH2):c.829-1G>A
|
rs1582759782
|
|
NM_000322.5(PRPH2):c.904G>T (p.Glu302Ter)
|
rs61748430
|
|
NM_000322.5(PRPH2):c.92G>T (p.Gly31Val)
|
rs886061404
|
|
NM_000322.5(PRPH2):c.934del (p.Val312fs)
|
rs1799986608
|
|
NM_000322.5(PRPH2):c.947G>A (p.Trp316Ter)
|
rs121918566
|
|
NM_001563.4(IMPG1):c.1530del (p.Gly511fs)
|
|
|
NM_001563.4(IMPG1):c.1751T>C (p.Met584Thr)
|
rs1782008139
|
|
NM_001563.4(IMPG1):c.1824+1G>A
|
rs770887047
|
|
NM_001563.4(IMPG1):c.2362G>T (p.Glu788Ter)
|
|
|
NM_001563.4(IMPG1):c.713T>G (p.Leu238Arg)
|
rs713993045
|
|
NM_001563.4(IMPG1):c.807+1G>T
|
rs713993046
|
|
NM_001563.4(IMPG1):c.807+5G>A
|
rs2149482319
|
|
NM_001563.4(IMPG1):c.960T>A (p.Ser320Arg)
|
rs1783079545
|
|
NM_004183.4(BEST1):c.728C>T (p.Ala243Val)
|
rs28940570
|
|
NM_016247.4(IMPG2):c.1658del (p.Val553fs)
|
rs1706456124
|
|
NM_016247.4(IMPG2):c.2274G>A (p.Trp758Ter)
|
rs786205564
|
|
NM_016247.4(IMPG2):c.2816T>A (p.Leu939His)
|
rs1559642470
|
|
NM_016247.4(IMPG2):c.2887A>G (p.Ser963Gly)
|
rs941586075
|
|
NM_016247.4(IMPG2):c.3047T>C (p.Phe1016Ser)
|
|
|
NM_016247.4(IMPG2):c.3230G>T (p.Cys1077Phe)
|
rs713993049
|
|
NM_016247.4(IMPG2):c.380G>C (p.Arg127Pro)
|
rs766305807
|
|
NM_016247.4(IMPG2):c.478G>T (p.Glu160Ter)
|
|
|
NM_016247.4(IMPG2):c.727G>C (p.Ala243Pro)
|
rs1706811719
|
|
NM_016247.4(IMPG2):c.86-8C>G
|
|
|