NM_004744.5(LRAT):c.*2625A>G
|
rs77071498
|
0.01933
|
NM_004744.5(LRAT):c.*2529C>T
|
rs185391295
|
0.00852
|
NM_004744.5(LRAT):c.*3264G>A
|
rs115053323
|
0.00575
|
NM_003322.6(TULP1):c.1341G>A (p.Leu447=)
|
rs61734562
|
0.00456
|
NM_004744.5(LRAT):c.*2741_*2743dup
|
rs528370871
|
0.00287
|
NM_004744.5(LRAT):c.*3T>G
|
rs200942685
|
0.00202
|
NM_004744.5(LRAT):c.*3712G>C
|
rs144961748
|
0.00172
|
NM_004744.5(LRAT):c.*3819T>C
|
rs191600425
|
0.00153
|
NM_025114.4(CEP290):c.1298A>G (p.Asp433Gly)
|
rs200211587
|
0.00146
|
NM_001122769.3(LCA5):c.2026G>T (p.Asp676Tyr)
|
rs143582502
|
0.00134
|
NM_201253.3(CRB1):c.2977G>A (p.Glu993Lys)
|
rs151092557
|
0.00122
|
NM_001122769.3(LCA5):c.902G>A (p.Arg301His)
|
rs139142572
|
0.00109
|
NM_025114.4(CEP290):c.1716A>G (p.Leu572=)
|
rs372349042
|
0.00107
|
NM_000329.3(RPE65):c.394G>A (p.Ala132Thr)
|
rs61752878
|
0.00103
|
NM_001122769.3(LCA5):c.1843A>G (p.Ser615Gly)
|
rs143030450
|
0.00087
|
NM_000329.3(RPE65):c.1244-5C>T
|
rs202185816
|
0.00074
|
NM_025114.4(CEP290):c.341G>A (p.Arg114His)
|
rs150296134
|
0.00073
|
NM_000329.3(RPE65):c.496-4G>A
|
rs138146176
|
0.00069
|
NM_025114.4(CEP290):c.4031T>C (p.Val1344Ala)
|
rs369227219
|
0.00067
|
NM_025114.4(CEP290):c.1670G>A (p.Arg557His)
|
rs184018899
|
0.00064
|
NM_004744.5(LRAT):c.403G>T (p.Ala135Ser)
|
rs139819099
|
0.00061
|
NM_000180.4(GUCY2D):c.1081G>A (p.Val361Met)
|
rs186508466
|
0.00057
|
NM_206933.4(USH2A):c.1961T>C (p.Leu654Pro)
|
rs1321779316
|
0.00056
|
NM_206933.4(USH2A):c.4758+3A>G
|
rs117798425
|
0.00056
|
NM_025114.4(CEP290):c.2306T>C (p.Ile769Thr)
|
rs199583200
|
0.00055
|
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met)
|
rs201988582
|
0.00054
|
NM_152443.3(RDH12):c.85G>A (p.Gly29Arg)
|
rs115455005
|
0.00054
|
NM_000180.4(GUCY2D):c.2179G>A (p.Gly727Ser)
|
rs146820642
|
0.00053
|
NM_000180.4(GUCY2D):c.3042G>A (p.Leu1014=)
|
rs139019420
|
0.00050
|
NM_025114.4(CEP290):c.2667G>T (p.Leu889Phe)
|
rs142038791
|
0.00049
|
NM_201253.3(CRB1):c.614T>C (p.Ile205Thr)
|
rs62645749
|
0.00049
|
NM_014336.4(AIPL1):c.-52G>T
|
rs377376064
|
0.00048
|
NM_201253.3(CRB1):c.2746C>T (p.Leu916Phe)
|
rs140648074
|
0.00044
|
NM_004744.5(LRAT):c.*640T>C
|
rs574458445
|
0.00043
|
NM_152443.3(RDH12):c.301G>A (p.Asp101Asn)
|
rs148334092
|
0.00037
|
NM_025114.4(CEP290):c.2479C>G (p.Leu827Val)
|
rs201569048
|
0.00036
|
NM_201253.3(CRB1):c.135C>G (p.Cys45Trp)
|
rs145141811
|
0.00035
|
NM_000554.6(CRX):c.425A>G (p.Tyr142Cys)
|
rs61748442
|
0.00032
|
NM_025114.4(CEP290):c.6116A>G (p.Asp2039Gly)
|
rs192259143
|
0.00032
|
NM_025114.4(CEP290):c.5185C>T (p.Arg1729Trp)
|
rs201353893
|
0.00031
|
NM_025114.4(CEP290):c.4250A>G (p.Gln1417Arg)
|
rs201504946
|
0.00030
|
NM_025114.4(CEP290):c.503G>A (p.Arg168His)
|
rs200063017
|
0.00029
|
NM_025114.4(CEP290):c.6078A>G (p.Gln2026=)
|
rs763570903
|
0.00029
|
NM_152443.3(RDH12):c.869T>G (p.Val290Gly)
|
rs61740289
|
0.00029
|
NM_001164688.2(RD3):c.-293_-292dup
|
rs1491560139
|
0.00028
|
NM_025114.4(CEP290):c.1742A>C (p.Glu581Ala)
|
rs77579747
|
0.00025
|
NM_012418.4(FSCN2):c.72del (p.Thr25fs)
|
rs376633374
|
0.00024
|
NM_025114.4(CEP290):c.3660G>T (p.Lys1220Asn)
|
rs201982308
|
0.00024
|
NM_025114.4(CEP290):c.6628C>T (p.Arg2210Cys)
|
rs374852145
|
0.00024
|
NM_025114.4(CEP290):c.2615C>T (p.Ser872Leu)
|
rs373341530
|
0.00023
|
NM_199355.4(ADAMTS18):c.3463C>T (p.Arg1155Trp)
|
rs143681049
|
0.00023
|
NM_025114.4(CEP290):c.3787C>A (p.Leu1263Met)
|
rs370395204
|
0.00022
|
NM_025114.4(CEP290):c.6558T>G (p.His2186Gln)
|
rs772603458
|
0.00022
|
NM_201253.3(CRB1):c.1450A>G (p.Thr484Ala)
|
rs144029476
|
0.00022
|
NM_201253.3(CRB1):c.2033G>A (p.Ser678Asn)
|
rs139463596
|
0.00022
|
NM_201253.3(CRB1):c.4148G>A (p.Arg1383His)
|
rs200573274
|
0.00022
|
NM_000180.4(GUCY2D):c.1984G>A (p.Val662Met)
|
rs143585840
|
0.00021
|
NM_001122769.3(LCA5):c.1083A>G (p.Pro361=)
|
rs367733392
|
0.00021
|
NM_025114.4(CEP290):c.7276G>A (p.Asp2426Asn)
|
rs200178519
|
0.00021
|
NM_201253.3(CRB1):c.430T>G (p.Phe144Val)
|
rs62636262
|
0.00021
|
NM_025114.4(CEP290):c.6392A>G (p.Glu2131Gly)
|
rs184323010
|
0.00020
|
NM_000180.4(GUCY2D):c.1499C>T (p.Pro500Leu)
|
rs200211315
|
0.00019
|
NM_000180.4(GUCY2D):c.2318T>C (p.Met773Thr)
|
rs143650826
|
0.00019
|
NM_001103146.3(GIGYF2):c.532+5271_532+5273del
|
rs774385692
|
0.00019
|
NM_025114.4(CEP290):c.2446C>T (p.Arg816Cys)
|
rs374656545
|
0.00019
|
NM_025114.4(CEP290):c.7015C>T (p.Arg2339Trp)
|
rs200969981
|
0.00019
|
NM_201253.3(CRB1):c.4060G>A (p.Ala1354Thr)
|
rs200469148
|
0.00019
|
NM_025114.4(CEP290):c.4360G>A (p.Glu1454Lys)
|
rs369902368
|
0.00018
|
NM_152443.3(RDH12):c.317G>A (p.Arg106Gln)
|
rs150812168
|
0.00017
|
NM_152443.3(RDH12):c.577C>T (p.Arg193Cys)
|
rs148629905
|
0.00017
|
NM_201253.3(CRB1):c.2225T>C (p.Phe742Ser)
|
rs140494140
|
0.00017
|
NM_004744.5(LRAT):c.-2+7A>C
|
rs886059161
|
0.00016
|
NM_025114.4(CEP290):c.4555A>T (p.Ile1519Leu)
|
rs200817579
|
0.00016
|
NM_025114.4(CEP290):c.523C>A (p.Gln175Lys)
|
rs202159966
|
0.00016
|
NM_201253.3(CRB1):c.2538A>T (p.Gly846=)
|
rs139040133
|
0.00015
|
NM_025114.4(CEP290):c.7075A>C (p.Ile2359Leu)
|
rs183387506
|
0.00014
|
NM_152443.3(RDH12):c.662C>T (p.Thr221Ile)
|
rs769317754
|
0.00014
|
NM_000180.4(GUCY2D):c.1979G>A (p.Arg660Gln)
|
rs61750162
|
0.00013
|
NM_000180.4(GUCY2D):c.991C>A (p.Arg331Ser)
|
rs34596269
|
0.00013
|
NM_000329.3(RPE65):c.298A>C (p.Ile100Leu)
|
rs142626873
|
0.00013
|
NM_014336.5(AIPL1):c.*153del
|
rs886053264
|
0.00013
|
NM_025114.4(CEP290):c.5338G>A (p.Val1780Ile)
|
rs368492668
|
0.00013
|
NM_025114.4(CEP290):c.671C>T (p.Thr224Ile)
|
rs200587974
|
0.00013
|
NM_000329.3(RPE65):c.433G>A (p.Ala145Thr)
|
rs767528365
|
0.00012
|
NM_025114.4(CEP290):c.31A>G (p.Met11Val)
|
rs185939120
|
0.00012
|
NM_025114.4(CEP290):c.4978T>A (p.Leu1660Ile)
|
rs372557655
|
0.00012
|
NM_025114.4(CEP290):c.5125C>A (p.Gln1709Lys)
|
rs367580207
|
0.00012
|
NM_025114.4(CEP290):c.5998A>G (p.Ile2000Val)
|
rs183071230
|
0.00012
|
NM_152443.3(RDH12):c.300C>T (p.Ser100=)
|
rs746513362
|
0.00012
|
NM_201253.3(CRB1):c.2681A>G (p.Asn894Ser)
|
rs62636290
|
0.00012
|
NM_000180.4(GUCY2D):c.1297C>G (p.Arg433Gly)
|
rs769749617
|
0.00011
|
NM_000180.4(GUCY2D):c.3014C>T (p.Thr1005Ile)
|
rs150185423
|
0.00011
|
NM_000180.4(GUCY2D):c.3238G>C (p.Gly1080Arg)
|
rs371919912
|
0.00011
|
NM_025114.4(CEP290):c.2473G>A (p.Glu825Lys)
|
rs779666225
|
0.00011
|
NM_025114.4(CEP290):c.4088G>A (p.Arg1363Gln)
|
rs188502327
|
0.00011
|
NM_025114.4(CEP290):c.4741C>T (p.Leu1581Phe)
|
rs11831931
|
0.00011
|
NM_025114.4(CEP290):c.6142G>C (p.Gly2048Arg)
|
rs377000187
|
0.00011
|
NM_025114.4(CEP290):c.6572A>T (p.His2191Leu)
|
rs368428115
|
0.00011
|
NM_025114.4(CEP290):c.6629G>A (p.Arg2210His)
|
rs371833544
|
0.00011
|
NM_152443.3(RDH12):c.569G>A (p.Ser190Asn)
|
rs371107041
|
0.00011
|
NM_201253.3(CRB1):c.2488A>T (p.Ile830Phe)
|
rs779451259
|
0.00011
|
NM_201253.3(CRB1):c.4030A>G (p.Ile1344Val)
|
rs111761880
|
0.00011
|
NM_201253.3(CRB1):c.679G>A (p.Glu227Lys)
|
rs190037839
|
0.00011
|
NM_000180.4(GUCY2D):c.121C>T (p.Leu41Phe)
|
rs61749664
|
0.00010
|
NM_004744.5(LRAT):c.*549T>C
|
rs886059165
|
0.00010
|
NM_004744.5(LRAT):c.*98C>T
|
rs529360609
|
0.00010
|
NM_025114.4(CEP290):c.3773A>G (p.Asn1258Ser)
|
rs200830750
|
0.00010
|
NM_025114.4(CEP290):c.4938A>G (p.Lys1646=)
|
rs371582975
|
0.00010
|
NM_025114.4(CEP290):c.5164A>G (p.Thr1722Ala)
|
rs375817905
|
0.00010
|
NM_025114.4(CEP290):c.5284C>T (p.Arg1762Cys)
|
rs373307908
|
0.00010
|
NM_025114.4(CEP290):c.6005A>G (p.Tyr2002Cys)
|
rs573872325
|
0.00010
|
NM_025114.4(CEP290):c.6806T>C (p.Ile2269Thr)
|
rs200090371
|
0.00010
|
NM_152443.3(RDH12):c.701G>A (p.Arg234His)
|
rs750636662
|
0.00010
|
NM_000180.4(GUCY2D):c.145G>T (p.Ala49Ser)
|
rs771232307
|
0.00009
|
NM_000180.4(GUCY2D):c.3220C>T (p.Pro1074Ser)
|
rs138869083
|
0.00009
|
NM_000329.3(RPE65):c.902A>G (p.Asn301Ser)
|
rs201075875
|
0.00009
|
NM_001122769.3(LCA5):c.1550G>T (p.Arg517Ile)
|
rs140706052
|
0.00009
|
NM_001122769.3(LCA5):c.1912A>G (p.Asn638Asp)
|
rs371962473
|
0.00009
|
NM_025114.4(CEP290):c.1523-6T>C
|
rs755202424
|
0.00009
|
NM_025114.4(CEP290):c.2098C>T (p.His700Tyr)
|
rs369104382
|
0.00009
|
NM_025114.4(CEP290):c.4577A>T (p.Glu1526Val)
|
rs760625332
|
0.00009
|
NM_025114.4(CEP290):c.5012+10C>T
|
rs191369238
|
0.00009
|
NM_025114.4(CEP290):c.5421A>G (p.Thr1807=)
|
rs370464321
|
0.00009
|
NM_206933.4(USH2A):c.2414G>C (p.Gly805Ala)
|
rs587783023
|
0.00009
|
NM_000180.4(GUCY2D):c.482C>T (p.Thr161Met)
|
rs1454369607
|
0.00008
|
NM_000180.4(GUCY2D):c.887C>A (p.Ala296Asp)
|
rs374679518
|
0.00008
|
NM_001122769.3(LCA5):c.1019A>G (p.Lys340Arg)
|
rs577692224
|
0.00008
|
NM_014336.4(AIPL1):c.-73A>G
|
rs751249166
|
0.00008
|
NM_025114.4(CEP290):c.4343C>G (p.Pro1448Arg)
|
rs757356455
|
0.00008
|
NM_025114.4(CEP290):c.6320A>G (p.Lys2107Arg)
|
rs755933899
|
0.00008
|
NM_025114.4(CEP290):c.6986A>G (p.Glu2329Gly)
|
rs772648931
|
0.00008
|
NM_025114.4(CEP290):c.974T>C (p.Ile325Thr)
|
rs769705837
|
0.00008
|
NM_000180.4(GUCY2D):c.140C>T (p.Pro47Leu)
|
rs1014118881
|
0.00007
|
NM_000180.4(GUCY2D):c.1868C>T (p.Thr623Met)
|
rs370742162
|
0.00007
|
NM_000180.4(GUCY2D):c.2260G>A (p.Glu754Lys)
|
rs747951577
|
0.00007
|
NM_000180.4(GUCY2D):c.2441C>T (p.Thr814Met)
|
rs150742659
|
0.00007
|
NM_000180.4(GUCY2D):c.3274C>T (p.Arg1092Trp)
|
rs746525316
|
0.00007
|
NM_000329.3(RPE65):c.676G>A (p.Val226Ile)
|
rs750099371
|
0.00007
|
NM_001122769.3(LCA5):c.858+5G>C
|
rs200302979
|
0.00007
|
NM_025114.4(CEP290):c.3778G>A (p.Ala1260Thr)
|
rs375609644
|
0.00007
|
NM_025114.4(CEP290):c.5395T>G (p.Leu1799Val)
|
rs1289111857
|
0.00007
|
NM_201253.3(CRB1):c.2894G>A (p.Ser965Asn)
|
rs1006177908
|
0.00007
|
NM_201253.3(CRB1):c.825G>A (p.Gly275=)
|
rs149685264
|
0.00007
|
NM_206933.4(USH2A):c.14473C>T (p.His4825Tyr)
|
rs1158010100
|
0.00007
|
NM_206933.4(USH2A):c.7061G>A (p.Arg2354His)
|
rs201386640
|
0.00007
|
NM_000180.4(GUCY2D):c.451G>A (p.Gly151Ser)
|
rs773849840
|
0.00006
|
NM_000180.4(GUCY2D):c.520G>A (p.Ala174Thr)
|
rs978982123
|
0.00006
|
NM_000180.4(GUCY2D):c.659C>T (p.Pro220Leu)
|
rs769129492
|
0.00006
|
NM_000329.3(RPE65):c.1195G>A (p.Glu399Lys)
|
rs144673747
|
0.00006
|
NM_004744.5(LRAT):c.*1585T>G
|
rs886059168
|
0.00006
|
NM_015102.5(NPHP4):c.2198G>A (p.Gly733Asp)
|
rs587783027
|
0.00006
|
NM_025114.4(CEP290):c.2546A>T (p.Asp849Val)
|
rs1313832672
|
0.00006
|
NM_025114.4(CEP290):c.3564A>G (p.Leu1188=)
|
rs900618917
|
0.00006
|
NM_025114.4(CEP290):c.3573+3A>G
|
rs199520739
|
0.00006
|
NM_025114.4(CEP290):c.4063C>T (p.Arg1355Cys)
|
rs376425111
|
0.00006
|
NM_025114.4(CEP290):c.4411C>T (p.Arg1471Trp)
|
rs771110294
|
0.00006
|
NM_025114.4(CEP290):c.4754A>G (p.His1585Arg)
|
rs199826787
|
0.00006
|
NM_025114.4(CEP290):c.4805C>T (p.Thr1602Met)
|
rs369451049
|
0.00006
|
NM_025114.4(CEP290):c.5227-9A>G
|
rs571981633
|
0.00006
|
NM_025114.4(CEP290):c.6023C>T (p.Ala2008Val)
|
rs376307540
|
0.00006
|
NM_025114.4(CEP290):c.6358-5C>T
|
rs372986399
|
0.00006
|
NM_025114.4(CEP290):c.7340A>C (p.Lys2447Thr)
|
rs201382524
|
0.00006
|
NM_201253.3(CRB1):c.1172-15T>A
|
rs375141011
|
0.00006
|
NM_201253.3(CRB1):c.156T>C (p.Asn52=)
|
rs143046320
|
0.00006
|
NM_201253.3(CRB1):c.1945G>A (p.Asp649Asn)
|
rs138936375
|
0.00006
|
NM_201253.3(CRB1):c.2826G>T (p.Val942=)
|
rs781176401
|
0.00006
|
NM_000180.4(GUCY2D):c.2059C>T (p.His687Tyr)
|
rs751340355
|
0.00005
|
NM_000180.4(GUCY2D):c.2281C>T (p.Arg761Trp)
|
rs200637525
|
0.00005
|
NM_001122769.3(LCA5):c.280C>T (p.Arg94Trp)
|
rs771098708
|
0.00005
|
NM_025114.4(CEP290):c.1105G>A (p.Glu369Lys)
|
rs373414042
|
0.00005
|
NM_025114.4(CEP290):c.2638G>T (p.Ala880Ser)
|
rs147362398
|
0.00005
|
NM_025114.4(CEP290):c.998A>C (p.Asn333Thr)
|
rs376033047
|
0.00005
|
NM_152443.3(RDH12):c.313A>G (p.Ile105Val)
|
rs371493398
|
0.00005
|
NM_152443.3(RDH12):c.590G>T (p.Gly197Val)
|
rs867284235
|
0.00005
|
NM_201253.3(CRB1):c.3852G>A (p.Met1284Ile)
|
rs938864433
|
0.00005
|
NM_201253.3(CRB1):c.863G>T (p.Cys288Phe)
|
rs148240351
|
0.00005
|
NM_000180.4(GUCY2D):c.1220C>T (p.Thr407Met)
|
rs377650196
|
0.00004
|
NM_000180.4(GUCY2D):c.1274G>C (p.Gly425Ala)
|
rs375468242
|
0.00004
|
NM_000180.4(GUCY2D):c.1288G>A (p.Ala430Thr)
|
rs147586061
|
0.00004
|
NM_000180.4(GUCY2D):c.1298G>A (p.Arg433Gln)
|
rs144151076
|
0.00004
|
NM_000180.4(GUCY2D):c.1805G>A (p.Arg602Gln)
|
rs747173302
|
0.00004
|
NM_000180.4(GUCY2D):c.187G>A (p.Ala63Thr)
|
rs761828482
|
0.00004
|
NM_000180.4(GUCY2D):c.1997G>A (p.Arg666Gln)
|
rs147166962
|
0.00004
|
NM_000180.4(GUCY2D):c.2009G>A (p.Arg670Gln)
|
rs369222553
|
0.00004
|
NM_000180.4(GUCY2D):c.2108C>T (p.Ala703Val)
|
rs577880164
|
0.00004
|
NM_000180.4(GUCY2D):c.2162G>A (p.Arg721His)
|
rs141352623
|
0.00004
|
NM_000180.4(GUCY2D):c.2165G>A (p.Arg722Gln)
|
rs745426085
|
0.00004
|
NM_000180.4(GUCY2D):c.2171C>T (p.Thr724Met)
|
rs561318435
|
0.00004
|
NM_000180.4(GUCY2D):c.2608C>A (p.Pro870Thr)
|
rs1009898777
|
0.00004
|
NM_000180.4(GUCY2D):c.2831G>A (p.Arg944Gln)
|
rs369527655
|
0.00004
|
NM_000180.4(GUCY2D):c.595C>A (p.Arg199Ser)
|
rs917296356
|
0.00004
|
NM_000180.4(GUCY2D):c.802C>A (p.Leu268Met)
|
rs780014587
|
0.00004
|
NM_000180.4(GUCY2D):c.98T>A (p.Leu33Gln)
|
rs755150485
|
0.00004
|
NM_000329.3(RPE65):c.106C>T (p.Leu36Phe)
|
rs371586530
|
0.00004
|
NM_000329.3(RPE65):c.1237C>T (p.Arg413Cys)
|
rs369142161
|
0.00004
|
NM_000329.3(RPE65):c.1449T>C (p.Asp483=)
|
rs201116540
|
0.00004
|
NM_000329.3(RPE65):c.1559T>C (p.Ile520Thr)
|
rs281865291
|
0.00004
|
NM_000329.3(RPE65):c.268G>A (p.Val90Ile)
|
rs370076628
|
0.00004
|
NM_000329.3(RPE65):c.617T>C (p.Ile206Thr)
|
rs768445391
|
0.00004
|
NM_001122769.3(LCA5):c.1862G>A (p.Ser621Asn)
|
rs756929736
|
0.00004
|
NM_001122769.3(LCA5):c.595A>G (p.Thr199Ala)
|
rs775866690
|
0.00004
|
NM_001122769.3(LCA5):c.705C>T (p.Thr235=)
|
rs774718880
|
0.00004
|
NM_025114.4(CEP290):c.1712-3T>C
|
rs376688469
|
0.00004
|
NM_025114.4(CEP290):c.1945G>A (p.Glu649Lys)
|
rs761705359
|
0.00004
|
NM_025114.4(CEP290):c.2129G>C (p.Gly710Ala)
|
rs969763835
|
0.00004
|
NM_025114.4(CEP290):c.2740A>G (p.Asn914Asp)
|
rs372321551
|
0.00004
|
NM_025114.4(CEP290):c.3028A>G (p.Ile1010Val)
|
rs1038566350
|
0.00004
|
NM_025114.4(CEP290):c.3791G>A (p.Arg1264His)
|
rs774144082
|
0.00004
|
NM_025114.4(CEP290):c.3810A>G (p.Leu1270=)
|
rs769060806
|
0.00004
|
NM_025114.4(CEP290):c.4064G>A (p.Arg1355His)
|
rs548558619
|
0.00004
|
NM_025114.4(CEP290):c.4151G>A (p.Arg1384His)
|
rs143152287
|
0.00004
|
NM_025114.4(CEP290):c.4240C>G (p.Leu1414Val)
|
rs762417751
|
0.00004
|
NM_025114.4(CEP290):c.4404A>G (p.Leu1468=)
|
rs779186037
|
0.00004
|
NM_025114.4(CEP290):c.4523G>A (p.Arg1508Gln)
|
rs568197175
|
0.00004
|
NM_025114.4(CEP290):c.5186G>A (p.Arg1729Gln)
|
rs535531689
|
0.00004
|
NM_025114.4(CEP290):c.609C>T (p.Asp203=)
|
rs767725492
|
0.00004
|
NM_025114.4(CEP290):c.6191A>G (p.Glu2064Gly)
|
rs987259388
|
0.00004
|
NM_025114.4(CEP290):c.7079A>C (p.His2360Pro)
|
rs1006780282
|
0.00004
|
NM_025114.4(CEP290):c.814G>A (p.Asp272Asn)
|
rs866480852
|
0.00004
|
NM_152443.3(RDH12):c.187+3A>G
|
rs568731074
|
0.00004
|
NM_152443.3(RDH12):c.284G>A (p.Arg95Gln)
|
rs765914942
|
0.00004
|
NM_152443.3(RDH12):c.755C>A (p.Ser252Tyr)
|
rs376787473
|
0.00004
|
NM_201253.3(CRB1):c.1014C>A (p.Ile338=)
|
rs771549675
|
0.00004
|
NM_201253.3(CRB1):c.2035C>G (p.Gln679Glu)
|
rs62636286
|
0.00004
|
NM_201253.3(CRB1):c.2231G>A (p.Arg744Gln)
|
rs530046423
|
0.00004
|
NM_201253.3(CRB1):c.2403G>A (p.Lys801=)
|
rs568010290
|
0.00004
|
NM_201253.3(CRB1):c.269G>A (p.Gly90Glu)
|
rs368816923
|
0.00004
|
NM_201253.3(CRB1):c.4157A>G (p.Lys1386Arg)
|
rs776191501
|
0.00004
|
NM_201253.3(CRB1):c.4169G>A (p.Arg1390Gln)
|
rs764581378
|
0.00004
|
NM_206933.4(USH2A):c.2135del (p.Asn711_Ser712insTer)
|
rs1238314101
|
0.00004
|
NM_000180.4(GUCY2D):c.1495G>C (p.Gly499Arg)
|
rs751263915
|
0.00003
|
NM_000180.4(GUCY2D):c.1519G>A (p.Val507Met)
|
rs746002871
|
0.00003
|
NM_000180.4(GUCY2D):c.1721G>A (p.Arg574His)
|
rs560270873
|
0.00003
|
NM_000180.4(GUCY2D):c.1828C>A (p.Leu610Ile)
|
rs779224998
|
0.00003
|
NM_000180.4(GUCY2D):c.1987G>A (p.Ala663Thr)
|
rs749314383
|
0.00003
|
NM_000180.4(GUCY2D):c.2551C>T (p.Arg851Trp)
|
rs571236000
|
0.00003
|
NM_000180.4(GUCY2D):c.3175A>G (p.Arg1059Gly)
|
rs878853342
|
0.00003
|
NM_000180.4(GUCY2D):c.3181G>A (p.Gly1061Ser)
|
rs62641254
|
0.00003
|
NM_000180.4(GUCY2D):c.3272G>A (p.Arg1091Gln)
|
rs773307918
|
0.00003
|
NM_000180.4(GUCY2D):c.479C>T (p.Thr160Ile)
|
rs750399742
|
0.00003
|
NM_000180.4(GUCY2D):c.566C>T (p.Ala189Val)
|
rs375259185
|
0.00003
|
NM_000180.4(GUCY2D):c.613C>T (p.Leu205Phe)
|
rs764280512
|
0.00003
|
NM_000329.3(RPE65):c.524A>G (p.Asn175Ser)
|
rs771863086
|
0.00003
|
NM_001122769.3(LCA5):c.*35del
|
rs747368961
|
0.00003
|
NM_001122769.3(LCA5):c.827A>G (p.Lys276Arg)
|
rs368131181
|
0.00003
|
NM_004744.5(LRAT):c.*2453C>A
|
rs886059171
|
0.00003
|
NM_025114.4(CEP290):c.1359G>A (p.Ser453=)
|
rs779195306
|
0.00003
|
NM_025114.4(CEP290):c.1387G>A (p.Val463Ile)
|
rs558414868
|
0.00003
|
NM_025114.4(CEP290):c.1877G>A (p.Ser626Asn)
|
rs746124813
|
0.00003
|
NM_025114.4(CEP290):c.2029C>T (p.Pro677Ser)
|
rs375523390
|
0.00003
|
NM_025114.4(CEP290):c.3178A>G (p.Thr1060Ala)
|
rs948383352
|
0.00003
|
NM_025114.4(CEP290):c.3593C>T (p.Ser1198Leu)
|
rs372640024
|
0.00003
|
NM_025114.4(CEP290):c.4121A>G (p.Tyr1374Cys)
|
rs1337676817
|
0.00003
|
NM_025114.4(CEP290):c.4837C>G (p.Pro1613Ala)
|
rs769280708
|
0.00003
|
NM_025114.4(CEP290):c.534G>T (p.Gln178His)
|
rs368025801
|
0.00003
|
NM_025114.4(CEP290):c.5552A>T (p.Lys1851Ile)
|
rs372565248
|
0.00003
|
NM_025114.4(CEP290):c.5776C>A (p.Arg1926=)
|
rs561598805
|
0.00003
|
NM_025114.4(CEP290):c.7070A>G (p.Glu2357Gly)
|
rs759725378
|
0.00003
|
NM_152443.3(RDH12):c.878G>C (p.Arg293Thr)
|
rs746131696
|
0.00003
|
NM_201253.3(CRB1):c.2305C>T (p.Arg769Cys)
|
rs746307301
|
0.00003
|
NM_201253.3(CRB1):c.263C>T (p.Thr88Ile)
|
rs201893755
|
0.00003
|
NM_201253.3(CRB1):c.2813A>C (p.Gln938Pro)
|
rs751018219
|
0.00003
|
NM_201253.3(CRB1):c.2874C>T (p.Ser958=)
|
rs372778560
|
0.00003
|
NM_201253.3(CRB1):c.3625G>A (p.Val1209Met)
|
rs201349525
|
0.00003
|
NM_201253.3(CRB1):c.3683C>A (p.Thr1228Asn)
|
rs147924782
|
0.00003
|
NM_201253.3(CRB1):c.3856C>T (p.Arg1286Trp)
|
rs754054234
|
0.00003
|
NM_000180.4(GUCY2D):c.1021C>A (p.Gln341Lys)
|
rs368799458
|
0.00002
|
NM_000180.4(GUCY2D):c.1116G>T (p.Trp372Cys)
|
rs770255396
|
0.00002
|
NM_000180.4(GUCY2D):c.1405G>A (p.Gly469Ser)
|
rs748301943
|
0.00002
|
NM_000180.4(GUCY2D):c.1469G>A (p.Arg490Gln)
|
rs753488664
|
0.00002
|
NM_000180.4(GUCY2D):c.1564A>G (p.Lys522Glu)
|
rs200189360
|
0.00002
|
NM_000180.4(GUCY2D):c.1566+3G>T
|
rs752607737
|
0.00002
|
NM_000180.4(GUCY2D):c.1618C>T (p.Arg540Cys)
|
rs61749754
|
0.00002
|
NM_000180.4(GUCY2D):c.1672G>A (p.Asp558Asn)
|
rs188568530
|
0.00002
|
NM_000180.4(GUCY2D):c.1720C>T (p.Arg574Cys)
|
rs137853897
|
0.00002
|
NM_000180.4(GUCY2D):c.1758G>T (p.Glu586Asp)
|
rs765906787
|
0.00002
|
NM_000180.4(GUCY2D):c.1887C>A (p.Asp629Glu)
|
rs770016889
|
0.00002
|
NM_000180.4(GUCY2D):c.1901G>C (p.Arg634Thr)
|
rs759957436
|
0.00002
|
NM_000180.4(GUCY2D):c.2056G>A (p.Gly686Ser)
|
rs766482364
|
0.00002
|
NM_000180.4(GUCY2D):c.206C>G (p.Ser69Cys)
|
rs1328542671
|
0.00002
|
NM_000180.4(GUCY2D):c.218C>A (p.Pro73Gln)
|
rs750153057
|
0.00002
|
NM_000180.4(GUCY2D):c.232C>T (p.Arg78Cys)
|
rs558294899
|
0.00002
|
NM_000180.4(GUCY2D):c.2435G>A (p.Arg812Gln)
|
rs201388569
|
0.00002
|
NM_000180.4(GUCY2D):c.2506C>T (p.Arg836Trp)
|
rs145420245
|
0.00002
|
NM_000180.4(GUCY2D):c.2600C>T (p.Thr867Met)
|
rs375727197
|
0.00002
|
NM_000180.4(GUCY2D):c.2743A>G (p.Ile915Val)
|
rs1189392055
|
0.00002
|
NM_000180.4(GUCY2D):c.2921G>A (p.Arg974His)
|
rs776083430
|
0.00002
|
NM_000180.4(GUCY2D):c.2943G>A (p.Ser981=)
|
rs749863195
|
0.00002
|
NM_000180.4(GUCY2D):c.452G>A (p.Gly151Asp)
|
rs890569519
|
0.00002
|
NM_000180.4(GUCY2D):c.576C>A (p.Asp192Glu)
|
rs528169554
|
0.00002
|
NM_000180.4(GUCY2D):c.937C>T (p.Arg313Cys)
|
rs61749674
|
0.00002
|
NM_000329.3(RPE65):c.1243+10T>C
|
rs548537552
|
0.00002
|
NM_000329.3(RPE65):c.1339-4A>G
|
rs746665921
|
0.00002
|
NM_000329.3(RPE65):c.1431T>C (p.Asp477=)
|
rs570518981
|
0.00002
|
NM_000329.3(RPE65):c.1544G>A (p.Arg515Gln)
|
rs559975684
|
0.00002
|
NM_001122769.3(LCA5):c.706G>A (p.Glu236Lys)
|
rs377719240
|
0.00002
|
NM_002098.6(GUCA1B):c.103G>A (p.Gly35Ser)
|
rs587783025
|
0.00002
|
NM_002899.5(RBP1):c.387_400del (p.Lys131fs)
|
rs587783020
|
0.00002
|
NM_014336.4(AIPL1):c.-21A>G
|
rs373772674
|
0.00002
|
NM_025114.4(CEP290):c.1235C>T (p.Thr412Met)
|
rs189280108
|
0.00002
|
NM_025114.4(CEP290):c.1448C>T (p.Thr483Ile)
|
rs373303674
|
0.00002
|
NM_025114.4(CEP290):c.1460A>G (p.Asn487Ser)
|
rs1331263277
|
0.00002
|
NM_025114.4(CEP290):c.1677G>C (p.Met559Ile)
|
rs1000099371
|
0.00002
|
NM_025114.4(CEP290):c.2060A>T (p.Glu687Val)
|
rs932362741
|
0.00002
|
NM_025114.4(CEP290):c.2273T>C (p.Val758Ala)
|
rs369868981
|
0.00002
|
NM_025114.4(CEP290):c.3124A>G (p.Lys1042Glu)
|
rs1468626083
|
0.00002
|
NM_025114.4(CEP290):c.3410G>A (p.Arg1137Gln)
|
rs774900495
|
0.00002
|
NM_025114.4(CEP290):c.3428A>G (p.Lys1143Arg)
|
rs772550529
|
0.00002
|
NM_025114.4(CEP290):c.4156A>G (p.Ile1386Val)
|
rs1427374639
|
0.00002
|
NM_025114.4(CEP290):c.4268G>A (p.Arg1423His)
|
rs774025278
|
0.00002
|
NM_025114.4(CEP290):c.4292C>T (p.Ala1431Val)
|
rs564214956
|
0.00002
|
NM_025114.4(CEP290):c.5285G>A (p.Arg1762His)
|
rs761763799
|
0.00002
|
NM_025114.4(CEP290):c.5371G>C (p.Val1791Leu)
|
rs955877363
|
0.00002
|
NM_025114.4(CEP290):c.5431A>G (p.Arg1811Gly)
|
rs1460898199
|
0.00002
|
NM_025114.4(CEP290):c.563A>T (p.Asp188Val)
|
rs746511786
|
0.00002
|
NM_025114.4(CEP290):c.6335G>A (p.Arg2112Gln)
|
rs773459272
|
0.00002
|
NM_025114.4(CEP290):c.7169C>G (p.Thr2390Arg)
|
rs776216960
|
0.00002
|
NM_025114.4(CEP290):c.835G>A (p.Asp279Asn)
|
rs796540607
|
0.00002
|
NM_152443.3(RDH12):c.410C>G (p.Ala137Gly)
|
rs779597637
|
0.00002
|
NM_152443.3(RDH12):c.542G>A (p.Gly181Asp)
|
rs374403088
|
0.00002
|
NM_152443.3(RDH12):c.634C>T (p.Arg212Cys)
|
rs146653515
|
0.00002
|
NM_201253.3(CRB1):c.1096A>C (p.Ile366Leu)
|
rs763122264
|
0.00002
|
NM_201253.3(CRB1):c.2875G>A (p.Gly959Ser)
|
rs557111131
|
0.00002
|
NM_201253.3(CRB1):c.2901G>T (p.Gly967=)
|
rs773815247
|
0.00002
|
NM_201253.3(CRB1):c.4061C>A (p.Ala1354Asp)
|
rs760100325
|
0.00002
|
NM_201253.3(CRB1):c.867G>A (p.Thr289=)
|
rs147244321
|
0.00002
|
NM_000180.4(GUCY2D):c.1037T>A (p.Leu346His)
|
rs1372180006
|
0.00001
|
NM_000180.4(GUCY2D):c.1099G>A (p.Ala367Thr)
|
rs754954638
|
0.00001
|
NM_000180.4(GUCY2D):c.1147C>T (p.Arg383Trp)
|
rs545271894
|
0.00001
|
NM_000180.4(GUCY2D):c.1148G>A (p.Arg383Gln)
|
rs373827556
|
0.00001
|
NM_000180.4(GUCY2D):c.1154C>T (p.Ala385Val)
|
rs1301307214
|
0.00001
|
NM_000180.4(GUCY2D):c.1225G>A (p.Ala409Thr)
|
rs144565168
|
0.00001
|
NM_000180.4(GUCY2D):c.1255A>C (p.Met419Leu)
|
rs1388468307
|
0.00001
|
NM_000180.4(GUCY2D):c.1257G>A (p.Met419Ile)
|
rs202111469
|
0.00001
|
NM_000180.4(GUCY2D):c.1339C>T (p.Pro447Ser)
|
rs1029006549
|
0.00001
|
NM_000180.4(GUCY2D):c.1403T>C (p.Leu468Pro)
|
rs1406502907
|
0.00001
|
NM_000180.4(GUCY2D):c.1415T>C (p.Leu472Pro)
|
rs1478819668
|
0.00001
|
NM_000180.4(GUCY2D):c.1433T>C (p.Leu478Pro)
|
rs766944930
|
0.00001
|
NM_000180.4(GUCY2D):c.1449G>A (p.Leu483=)
|
rs141346556
|
0.00001
|
NM_000180.4(GUCY2D):c.1547A>G (p.His516Arg)
|
rs1345987699
|
0.00001
|
NM_000180.4(GUCY2D):c.1552G>A (p.Gly518Ser)
|
rs537729498
|
0.00001
|
NM_000180.4(GUCY2D):c.1555A>C (p.Thr519Pro)
|
rs1198818689
|
0.00001
|
NM_000180.4(GUCY2D):c.1562G>A (p.Arg521Gln)
|
rs751520851
|
0.00001
|
NM_000180.4(GUCY2D):c.1566+4G>A
|
rs1191933070
|
0.00001
|
NM_000180.4(GUCY2D):c.1573C>A (p.Gln525Lys)
|
rs1168076308
|
0.00001
|
NM_000180.4(GUCY2D):c.1608G>A (p.Met536Ile)
|
rs759173115
|
0.00001
|
NM_000180.4(GUCY2D):c.1645A>G (p.Ser549Gly)
|
rs1243599161
|
0.00001
|
NM_000180.4(GUCY2D):c.16C>T (p.Arg6Cys)
|
rs1975657387
|
0.00001
|
NM_000180.4(GUCY2D):c.1707G>T (p.Gln569His)
|
rs568220391
|
0.00001
|
NM_000180.4(GUCY2D):c.1717A>G (p.Ile573Val)
|
rs61749756
|
0.00001
|
NM_000180.4(GUCY2D):c.1763G>A (p.Arg588Gln)
|
rs1380583409
|
0.00001
|
NM_000180.4(GUCY2D):c.1852G>A (p.Val618Ile)
|
rs767258249
|
0.00001
|
NM_000180.4(GUCY2D):c.1870C>T (p.Arg624Trp)
|
rs757230483
|
0.00001
|
NM_000180.4(GUCY2D):c.1871G>A (p.Arg624Gln)
|
rs746020263
|
0.00001
|
NM_000180.4(GUCY2D):c.1958G>A (p.Gly653Glu)
|
rs139168077
|
0.00001
|
NM_000180.4(GUCY2D):c.1996C>T (p.Arg666Trp)
|
rs757387072
|
0.00001
|
NM_000180.4(GUCY2D):c.2062G>A (p.Gly688Arg)
|
rs144291605
|
0.00001
|
NM_000180.4(GUCY2D):c.2084A>G (p.Lys695Arg)
|
rs1237783733
|
0.00001
|
NM_000180.4(GUCY2D):c.2132C>T (p.Pro711Leu)
|
rs765463082
|
0.00001
|
NM_000180.4(GUCY2D):c.2146G>A (p.Asp716Asn)
|
rs755464893
|
0.00001
|
NM_000180.4(GUCY2D):c.2156T>C (p.Leu719Pro)
|
rs756464199
|
0.00001
|
NM_000180.4(GUCY2D):c.2182G>A (p.Asp728Asn)
|
rs766646217
|
0.00001
|
NM_000180.4(GUCY2D):c.2262G>A (p.Glu754=)
|
rs1975893237
|
0.00001
|
NM_000180.4(GUCY2D):c.2282G>A (p.Arg761Gln)
|
rs764439180
|
0.00001
|
NM_000180.4(GUCY2D):c.2325G>T (p.Gln775His)
|
rs368384232
|
0.00001
|
NM_000180.4(GUCY2D):c.2359T>G (p.Cys787Gly)
|
rs368958527
|
0.00001
|
NM_000180.4(GUCY2D):c.2387C>T (p.Pro796Leu)
|
rs1304876088
|
0.00001
|
NM_000180.4(GUCY2D):c.2412+4A>C
|
rs951825929
|
0.00001
|
NM_000180.4(GUCY2D):c.2432G>A (p.Gly811Asp)
|
rs750247123
|
0.00001
|
NM_000180.4(GUCY2D):c.2439G>C (p.Lys813Asn)
|
rs1477300555
|
0.00001
|
NM_000180.4(GUCY2D):c.2467A>T (p.Met823Leu)
|
rs1264291406
|
0.00001
|
NM_000180.4(GUCY2D):c.2507G>A (p.Arg836Gln)
|
rs760126408
|
0.00001
|
NM_000180.4(GUCY2D):c.2509G>A (p.Glu837Lys)
|
rs377594823
|
0.00001
|
NM_000180.4(GUCY2D):c.2516C>T (p.Thr839Met)
|
rs61750174
|
0.00001
|
NM_000180.4(GUCY2D):c.2576C>T (p.Pro859Leu)
|
rs374515716
|
0.00001
|
NM_000180.4(GUCY2D):c.2578T>C (p.Ser860Pro)
|
rs1214999566
|
0.00001
|
NM_000180.4(GUCY2D):c.2620G>A (p.Glu874Lys)
|
rs1001538483
|
0.00001
|
NM_000180.4(GUCY2D):c.262C>A (p.Pro88Thr)
|
rs1300514080
|
0.00001
|
NM_000180.4(GUCY2D):c.2683A>G (p.Met895Val)
|
rs1180472258
|
0.00001
|
NM_000180.4(GUCY2D):c.277G>A (p.Gly93Ser)
|
rs749432012
|
0.00001
|
NM_000180.4(GUCY2D):c.2795T>G (p.Met932Arg)
|
rs766418901
|
0.00001
|
NM_000180.4(GUCY2D):c.2804C>T (p.Ser935Leu)
|
rs1236572248
|
0.00001
|
NM_000180.4(GUCY2D):c.2861T>C (p.Leu954Pro)
|
rs61750182
|
0.00001
|
NM_000180.4(GUCY2D):c.2875G>A (p.Ala959Thr)
|
rs768417052
|
0.00001
|
NM_000180.4(GUCY2D):c.2878G>A (p.Val960Met)
|
rs781010216
|
0.00001
|
NM_000180.4(GUCY2D):c.295G>A (p.Ala99Thr)
|
rs1304984076
|
0.00001
|
NM_000180.4(GUCY2D):c.296C>T (p.Ala99Val)
|
rs1567957056
|
0.00001
|
NM_000180.4(GUCY2D):c.3065T>G (p.Leu1022Trp)
|
rs866511152
|
0.00001
|
NM_000180.4(GUCY2D):c.3138+6G>T
|
rs937146348
|
0.00001
|
NM_000180.4(GUCY2D):c.3179G>A (p.Arg1060His)
|
rs563091520
|
0.00001
|
NM_000180.4(GUCY2D):c.3205C>T (p.Pro1069Ser)
|
rs1187326101
|
0.00001
|
NM_000180.4(GUCY2D):c.3229A>G (p.Ser1077Gly)
|
rs1249600456
|
0.00001
|
NM_000180.4(GUCY2D):c.3245G>C (p.Ser1082Thr)
|
rs750743574
|
0.00001
|
NM_000180.4(GUCY2D):c.3283G>A (p.Glu1095Lys)
|
rs1024155105
|
0.00001
|
NM_000180.4(GUCY2D):c.358C>T (p.Arg120Cys)
|
rs1975671628
|
0.00001
|
NM_000180.4(GUCY2D):c.380C>T (p.Pro127Leu)
|
rs878853343
|
0.00001
|
NM_000180.4(GUCY2D):c.623G>A (p.Arg208Gln)
|
rs765369504
|
0.00001
|
NM_000180.4(GUCY2D):c.652A>G (p.Met218Val)
|
rs780953815
|
0.00001
|
NM_000180.4(GUCY2D):c.680G>A (p.Arg227Gln)
|
rs770873775
|
0.00001
|
NM_000180.4(GUCY2D):c.696G>T (p.Lys232Asn)
|
rs181800610
|
0.00001
|
NM_000180.4(GUCY2D):c.710C>A (p.Pro237His)
|
rs765439946
|
0.00001
|
NM_000180.4(GUCY2D):c.793G>A (p.Glu265Lys)
|
rs1346762413
|
0.00001
|
NM_000180.4(GUCY2D):c.808G>A (p.Asp270Asn)
|
rs763099634
|
0.00001
|
NM_000180.4(GUCY2D):c.866C>T (p.Pro289Leu)
|
rs1350341897
|
0.00001
|
NM_000329.3(RPE65):c.1034A>G (p.Asn345Ser)
|
rs769440649
|
0.00001
|
NM_000329.3(RPE65):c.1220T>C (p.Val407Ala)
|
rs62636297
|
0.00001
|
NM_000329.3(RPE65):c.124C>T (p.Leu42Phe)
|
rs750724065
|
0.00001
|
NM_000329.3(RPE65):c.1519G>T (p.Ala507Ser)
|
rs767931252
|
0.00001
|
NM_000329.3(RPE65):c.1533T>G (p.Ser511Arg)
|
rs190761343
|
0.00001
|
NM_000329.3(RPE65):c.1597T>A (p.Ser533Thr)
|
rs577335767
|
0.00001
|
NM_000329.3(RPE65):c.375A>G (p.Gly125=)
|
rs992113946
|
0.00001
|
NM_000329.3(RPE65):c.382G>T (p.Val128Phe)
|
rs375611153
|
0.00001
|
NM_000329.3(RPE65):c.417G>A (p.Val139=)
|
rs536073181
|
0.00001
|
NM_000329.3(RPE65):c.743A>G (p.Asn248Ser)
|
rs758264644
|
0.00001
|
NM_000329.3(RPE65):c.744C>A (p.Asn248Lys)
|
rs1343005273
|
0.00001
|
NM_000329.3(RPE65):c.783G>T (p.Leu261=)
|
rs188493184
|
0.00001
|
NM_000329.3(RPE65):c.7A>G (p.Ile3Val)
|
rs777461552
|
0.00001
|
NM_000329.3(RPE65):c.874G>A (p.Ala292Thr)
|
rs377762154
|
0.00001
|
NM_000329.3(RPE65):c.953A>G (p.Tyr318Cys)
|
rs761284021
|
0.00001
|
NM_000329.3(RPE65):c.975T>G (p.Ile325Met)
|
rs761227832
|
0.00001
|
NM_001122769.3(LCA5):c.250C>T (p.Arg84Cys)
|
rs750430540
|
0.00001
|
NM_001122769.3(LCA5):c.439C>T (p.Leu147=)
|
rs141291555
|
0.00001
|
NM_001122769.3(LCA5):c.73T>C (p.Ser25Pro)
|
rs199902236
|
0.00001
|
NM_001170700.3(DTHD1):c.256T>C (p.Cys86Arg)
|
rs886037840
|
0.00001
|
NM_001386393.1(PANK2):c.953G>A (p.Cys318Tyr)
|
rs1012947103
|
0.00001
|
NM_002335.4(LRP5):c.1697G>A (p.Arg566His)
|
rs587783024
|
0.00001
|
NM_004744.5(LRAT):c.205C>T (p.Arg69Cys)
|
rs775838916
|
0.00001
|
NM_020366.4(RPGRIP1):c.2012G>A (p.Gly671Glu)
|
rs1348186141
|
0.00001
|
NM_025114.4(CEP290):c.1028T>C (p.Leu343Pro)
|
rs1429640081
|
0.00001
|
NM_025114.4(CEP290):c.1042A>T (p.Ser348Cys)
|
rs753281190
|
0.00001
|
NM_025114.4(CEP290):c.1066-3T>C
|
rs996569804
|
0.00001
|
NM_025114.4(CEP290):c.1198A>G (p.Thr400Ala)
|
rs772026871
|
0.00001
|
NM_025114.4(CEP290):c.1255A>G (p.Lys419Glu)
|
rs376808205
|
0.00001
|
NM_025114.4(CEP290):c.1517G>A (p.Arg506His)
|
rs866571949
|
0.00001
|
NM_025114.4(CEP290):c.1626T>G (p.Ile542Met)
|
rs762272190
|
0.00001
|
NM_025114.4(CEP290):c.1711+6C>T
|
rs1285486059
|
0.00001
|
NM_025114.4(CEP290):c.1850T>C (p.Ile617Thr)
|
rs776346956
|
0.00001
|
NM_025114.4(CEP290):c.1952T>C (p.Met651Thr)
|
rs772165172
|
0.00001
|
NM_025114.4(CEP290):c.2068A>C (p.Asn690His)
|
rs398124411
|
0.00001
|
NM_025114.4(CEP290):c.2113G>A (p.Val705Ile)
|
rs769216455
|
0.00001
|
NM_025114.4(CEP290):c.2168G>A (p.Arg723Gln)
|
rs764117043
|
0.00001
|
NM_025114.4(CEP290):c.2414T>C (p.Leu805Pro)
|
rs762633090
|
0.00001
|
NM_025114.4(CEP290):c.2423A>G (p.Tyr808Cys)
|
rs773007151
|
0.00001
|
NM_025114.4(CEP290):c.2551G>A (p.Val851Ile)
|
rs764963626
|
0.00001
|
NM_025114.4(CEP290):c.2587-3C>T
|
rs759025964
|
0.00001
|
NM_025114.4(CEP290):c.2587-9T>C
|
rs766982108
|
0.00001
|
NM_025114.4(CEP290):c.2839G>T (p.Ala947Ser)
|
rs967541984
|
0.00001
|
NM_025114.4(CEP290):c.2873C>T (p.Ser958Phe)
|
rs546463648
|
0.00001
|
NM_025114.4(CEP290):c.3064C>T (p.His1022Tyr)
|
rs916545578
|
0.00001
|
NM_025114.4(CEP290):c.3098A>C (p.Lys1033Thr)
|
rs1421960607
|
0.00001
|
NM_025114.4(CEP290):c.331C>T (p.Arg111Trp)
|
rs1051440600
|
0.00001
|
NM_025114.4(CEP290):c.3323A>G (p.Asn1108Ser)
|
rs373207132
|
0.00001
|
NM_025114.4(CEP290):c.3420A>G (p.Glu1140=)
|
rs762723146
|
0.00001
|
NM_025114.4(CEP290):c.3529G>C (p.Asp1177His)
|
rs1030787885
|
0.00001
|
NM_025114.4(CEP290):c.3709C>T (p.Arg1237Cys)
|
rs768864296
|
0.00001
|
NM_025114.4(CEP290):c.3731A>G (p.Glu1244Gly)
|
rs1342978055
|
0.00001
|
NM_025114.4(CEP290):c.3757C>T (p.Arg1253Cys)
|
rs547677441
|
0.00001
|
NM_025114.4(CEP290):c.3826G>A (p.Gly1276Arg)
|
rs267603712
|
0.00001
|
NM_025114.4(CEP290):c.3853A>G (p.Lys1285Glu)
|
rs765521933
|
0.00001
|
NM_025114.4(CEP290):c.3858C>A (p.Phe1286Leu)
|
rs1353300022
|
0.00001
|
NM_025114.4(CEP290):c.3911T>C (p.Met1304Thr)
|
rs761010723
|
0.00001
|
NM_025114.4(CEP290):c.4045A>G (p.Met1349Val)
|
rs923112337
|
0.00001
|
NM_025114.4(CEP290):c.4150C>T (p.Arg1384Cys)
|
rs794727563
|
0.00001
|
NM_025114.4(CEP290):c.4257C>A (p.Asp1419Glu)
|
rs771898047
|
0.00001
|
NM_025114.4(CEP290):c.4288A>C (p.Asn1430His)
|
rs749261915
|
0.00001
|
NM_025114.4(CEP290):c.4320A>T (p.Gly1440=)
|
rs372184970
|
0.00001
|
NM_025114.4(CEP290):c.4383G>T (p.Lys1461Asn)
|
rs769732992
|
0.00001
|
NM_025114.4(CEP290):c.4634T>C (p.Met1545Thr)
|
rs1217427527
|
0.00001
|
NM_025114.4(CEP290):c.4681C>T (p.Arg1561Cys)
|
rs763605289
|
0.00001
|
NM_025114.4(CEP290):c.4730A>G (p.His1577Arg)
|
rs751352443
|
0.00001
|
NM_025114.4(CEP290):c.4812+6A>T
|
rs769525877
|
0.00001
|
NM_025114.4(CEP290):c.4817T>C (p.Leu1606Ser)
|
rs767636506
|
0.00001
|
NM_025114.4(CEP290):c.4C>T (p.Pro2Ser)
|
rs1064795491
|
0.00001
|
NM_025114.4(CEP290):c.5019A>G (p.Gln1673=)
|
rs1259897302
|
0.00001
|
NM_025114.4(CEP290):c.5167A>G (p.Met1723Val)
|
rs542400806
|
0.00001
|
NM_025114.4(CEP290):c.521A>T (p.Glu174Val)
|
rs774484028
|
0.00001
|
NM_025114.4(CEP290):c.5423G>A (p.Ser1808Asn)
|
rs763278328
|
0.00001
|
NM_025114.4(CEP290):c.5459A>G (p.Asn1820Ser)
|
rs776980750
|
0.00001
|
NM_025114.4(CEP290):c.5523G>A (p.Glu1841=)
|
rs753424189
|
0.00001
|
NM_025114.4(CEP290):c.5543A>G (p.Asp1848Gly)
|
rs563967678
|
0.00001
|
NM_025114.4(CEP290):c.5885G>A (p.Arg1962Lys)
|
rs562477272
|
0.00001
|
NM_025114.4(CEP290):c.6070T>C (p.Tyr2024His)
|
rs745998591
|
0.00001
|
NM_025114.4(CEP290):c.634A>T (p.Asn212Tyr)
|
rs527704077
|
0.00001
|
NM_025114.4(CEP290):c.6371G>A (p.Gly2124Glu)
|
rs752851135
|
0.00001
|
NM_025114.4(CEP290):c.6547C>T (p.His2183Tyr)
|
rs535765861
|
0.00001
|
NM_025114.4(CEP290):c.6599A>G (p.Glu2200Gly)
|
rs779145328
|
0.00001
|
NM_025114.4(CEP290):c.6671G>A (p.Arg2224Gln)
|
rs1214939378
|
0.00001
|
NM_025114.4(CEP290):c.6778G>C (p.Gly2260Arg)
|
rs371397659
|
0.00001
|
NM_025114.4(CEP290):c.6791A>G (p.Lys2264Arg)
|
rs535571590
|
0.00001
|
NM_025114.4(CEP290):c.6807T>G (p.Ile2269Met)
|
rs1355908667
|
0.00001
|
NM_025114.4(CEP290):c.6941A>G (p.Asn2314Ser)
|
rs148173636
|
0.00001
|
NM_025114.4(CEP290):c.7155A>G (p.Ile2385Met)
|
rs770168358
|
0.00001
|
NM_025114.4(CEP290):c.722A>G (p.Lys241Arg)
|
rs199790246
|
0.00001
|
NM_025114.4(CEP290):c.7240G>A (p.Glu2414Lys)
|
rs1233939358
|
0.00001
|
NM_025114.4(CEP290):c.7311G>T (p.Lys2437Asn)
|
rs534440681
|
0.00001
|
NM_025114.4(CEP290):c.7333G>A (p.Val2445Ile)
|
rs756042946
|
0.00001
|
NM_025114.4(CEP290):c.7372A>G (p.Ser2458Gly)
|
rs762238709
|
0.00001
|
NM_025114.4(CEP290):c.787A>G (p.Ile263Val)
|
rs1477583890
|
0.00001
|
NM_025114.4(CEP290):c.79A>G (p.Asn27Asp)
|
rs753760503
|
0.00001
|
NM_025114.4(CEP290):c.834C>T (p.Asn278=)
|
rs567493515
|
0.00001
|
NM_025114.4(CEP290):c.838C>T (p.His280Tyr)
|
rs575493480
|
0.00001
|
NM_025114.4(CEP290):c.869A>G (p.Asp290Gly)
|
rs958209779
|
0.00001
|
NM_152443.3(RDH12):c.165G>A (p.Thr55=)
|
rs751674066
|
0.00001
|
NM_152443.3(RDH12):c.277C>T (p.Leu93=)
|
rs143278615
|
0.00001
|
NM_152443.3(RDH12):c.302A>G (p.Asp101Gly)
|
rs374675592
|
0.00001
|
NM_152443.3(RDH12):c.407C>T (p.Thr136Ile)
|
rs1206574200
|
0.00001
|
NM_152443.3(RDH12):c.465C>T (p.Thr155=)
|
rs749242059
|
0.00001
|
NM_152443.3(RDH12):c.525G>A (p.Ser175=)
|
rs756315539
|
0.00001
|
NM_152443.3(RDH12):c.578G>A (p.Arg193His)
|
rs567973980
|
0.00001
|
NM_152443.3(RDH12):c.658+7C>T
|
rs762391730
|
0.00001
|
NM_152443.3(RDH12):c.709C>G (p.Leu237Val)
|
rs1377743038
|
0.00001
|
NM_152443.3(RDH12):c.748C>T (p.Leu250Phe)
|
rs777424197
|
0.00001
|
NM_152443.3(RDH12):c.940C>T (p.Arg314Trp)
|
rs773048895
|
0.00001
|
NM_199355.4(ADAMTS18):c.3419G>T (p.Gly1140Val)
|
rs1567453873
|
0.00001
|
NM_201253.3(CRB1):c.1040C>T (p.Pro347Leu)
|
rs765500601
|
0.00001
|
NM_201253.3(CRB1):c.1086A>T (p.Gln362His)
|
rs1022182632
|
0.00001
|
NM_201253.3(CRB1):c.1172-3C>G
|
rs937310739
|
0.00001
|
NM_201253.3(CRB1):c.1636A>G (p.Ile546Val)
|
rs745464770
|
0.00001
|
NM_201253.3(CRB1):c.1660G>T (p.Val554Leu)
|
rs772386716
|
0.00001
|
NM_201253.3(CRB1):c.1862C>T (p.Thr621Ile)
|
rs1450290360
|
0.00001
|
NM_201253.3(CRB1):c.2404C>T (p.Pro802Ser)
|
rs767723282
|
0.00001
|
NM_201253.3(CRB1):c.2563G>A (p.Val855Ile)
|
rs557930078
|
0.00001
|
NM_201253.3(CRB1):c.2713C>T (p.Arg905Trp)
|
rs749366098
|
0.00001
|
NM_201253.3(CRB1):c.285G>C (p.Leu95=)
|
rs753898127
|
0.00001
|
NM_201253.3(CRB1):c.2889C>A (p.Phe963Leu)
|
rs905306614
|
0.00001
|
NM_201253.3(CRB1):c.3250G>A (p.Asp1084Asn)
|
rs769059111
|
0.00001
|
NM_201253.3(CRB1):c.3306C>T (p.Ile1102=)
|
rs374786358
|
0.00001
|
NM_201253.3(CRB1):c.3386C>T (p.Ser1129Phe)
|
rs763011436
|
0.00001
|
NM_201253.3(CRB1):c.3613G>A (p.Gly1205Arg)
|
rs574742644
|
0.00001
|
NM_201253.3(CRB1):c.3637G>C (p.Val1213Leu)
|
rs759022743
|
0.00001
|
NM_201253.3(CRB1):c.3727A>C (p.Asn1243His)
|
rs746774206
|
0.00001
|
NM_201253.3(CRB1):c.3997G>A (p.Glu1333Lys)
|
rs137853136
|
0.00001
|
NM_201253.3(CRB1):c.4000G>A (p.Val1334Met)
|
rs754862028
|
0.00001
|
NM_201253.3(CRB1):c.4043T>C (p.Ile1348Thr)
|
rs774187022
|
0.00001
|
NM_201253.3(CRB1):c.4165T>C (p.Ser1389Pro)
|
rs1015110520
|
0.00001
|
NM_201253.3(CRB1):c.745G>A (p.Asp249Asn)
|
rs1461964160
|
0.00001
|
NM_201253.3(CRB1):c.892T>C (p.Cys298Arg)
|
rs1412048468
|
0.00001
|
NM_201253.3(CRB1):c.976C>T (p.His326Tyr)
|
rs773386179
|
0.00001
|
NC_000017.10:g.(?_7846709)_(8000124_?)dup
|
|
|
NC_000017.10:g.(?_7906366)_(8027402_?)dup
|
|
|
NM_000180.4(GUCY2D):c.1009G>A (p.Asp337Asn)
|
|
|
NM_000180.4(GUCY2D):c.1012C>G (p.Leu338Val)
|
rs2151799779
|
|
NM_000180.4(GUCY2D):c.1018C>G (p.Leu340Val)
|
|
|
NM_000180.4(GUCY2D):c.1027G>T (p.Val343Phe)
|
|
|
NM_000180.4(GUCY2D):c.1031C>G (p.Ser344Cys)
|
rs768812125
|
|
NM_000180.4(GUCY2D):c.1033C>G (p.Pro345Ala)
|
rs755696904
|
|
NM_000180.4(GUCY2D):c.103C>G (p.Arg35Gly)
|
rs1423033093
|
|
NM_000180.4(GUCY2D):c.104G>T (p.Arg35Leu)
|
rs748156659
|
|
NM_000180.4(GUCY2D):c.1060G>A (p.Val354Ile)
|
rs758931689
|
|
NM_000180.4(GUCY2D):c.1072G>A (p.Ala358Thr)
|
|
|
NM_000180.4(GUCY2D):c.1073C>T (p.Ala358Val)
|
|
|
NM_000180.4(GUCY2D):c.1080C>T (p.Gly360=)
|
rs1264540934
|
|
NM_000180.4(GUCY2D):c.1094G>A (p.Arg365Gln)
|
rs141917297
|
|
NM_000180.4(GUCY2D):c.110C>G (p.Pro37Arg)
|
|
|
NM_000180.4(GUCY2D):c.1120T>G (p.Ser374Ala)
|
rs749607771
|
|
NM_000180.4(GUCY2D):c.1123G>A (p.Gly375Arg)
|
|
|
NM_000180.4(GUCY2D):c.112C>T (p.Leu38Phe)
|
|
|
NM_000180.4(GUCY2D):c.1139G>A (p.Arg380His)
|
|
|
NM_000180.4(GUCY2D):c.1148G>T (p.Arg383Leu)
|
|
|
NM_000180.4(GUCY2D):c.1183G>A (p.Gly395Arg)
|
|
|
NM_000180.4(GUCY2D):c.1192G>A (p.Glu398Lys)
|
|
|
NM_000180.4(GUCY2D):c.1210C>G (p.Leu404Val)
|
|
|
NM_000180.4(GUCY2D):c.1220C>A (p.Thr407Lys)
|
rs377650196
|
|
NM_000180.4(GUCY2D):c.1220C>G (p.Thr407Arg)
|
rs377650196
|
|
NM_000180.4(GUCY2D):c.1229C>G (p.Ala410Gly)
|
|
|
NM_000180.4(GUCY2D):c.1229C>T (p.Ala410Val)
|
rs773030462
|
|
NM_000180.4(GUCY2D):c.1234G>A (p.Asp412Asn)
|
|
|
NM_000180.4(GUCY2D):c.1238G>A (p.Arg413Gln)
|
rs1253086014
|
|
NM_000180.4(GUCY2D):c.1249A>T (p.Thr417Ser)
|
|
|
NM_000180.4(GUCY2D):c.1257G>T (p.Met419Ile)
|
rs202111469
|
|
NM_000180.4(GUCY2D):c.1263T>A (p.Asp421Glu)
|
|
|
NM_000180.4(GUCY2D):c.1265C>T (p.Pro422Leu)
|
rs2151800552
|
|
NM_000180.4(GUCY2D):c.1270C>T (p.Arg424Trp)
|
|
|
NM_000180.4(GUCY2D):c.1290C>A (p.Ala430=)
|
rs141967896
|
|
NM_000180.4(GUCY2D):c.1296C>G (p.Thr432=)
|
|
|
NM_000180.4(GUCY2D):c.1297C>T (p.Arg433Trp)
|
rs769749617
|
|
NM_000180.4(GUCY2D):c.1315G>T (p.Gly439Trp)
|
rs140638938
|
|
NM_000180.4(GUCY2D):c.131TGC[1] (p.Leu45del)
|
rs2151799258
|
|
NM_000180.4(GUCY2D):c.1340C>T (p.Pro447Leu)
|
|
|
NM_000180.4(GUCY2D):c.1343C>T (p.Ser448Leu)
|
rs61749679
|
|
NM_000180.4(GUCY2D):c.1354G>C (p.Asp452His)
|
|
|
NM_000180.4(GUCY2D):c.1356T>G (p.Asp452Glu)
|
|
|
NM_000180.4(GUCY2D):c.1376G>A (p.Gly459Glu)
|
|
|
NM_000180.4(GUCY2D):c.1378+5G>A
|
rs2151800630
|
|
NM_000180.4(GUCY2D):c.1378+5G>C
|
rs2151800630
|
|
NM_000180.4(GUCY2D):c.1378+8C>T
|
rs1457493139
|
|
NM_000180.4(GUCY2D):c.1394T>G (p.Leu465Arg)
|
|
|
NM_000180.4(GUCY2D):c.1396G>C (p.Val466Leu)
|
|
|
NM_000180.4(GUCY2D):c.139C>T (p.Pro47Ser)
|
|
|
NM_000180.4(GUCY2D):c.13G>A (p.Ala5Thr)
|
rs1975657312
|
|
NM_000180.4(GUCY2D):c.1408T>C (p.Phe470Leu)
|
|
|
NM_000180.4(GUCY2D):c.140C>G (p.Pro47Arg)
|
|
|
NM_000180.4(GUCY2D):c.1420G>A (p.Val474Ile)
|
|
|
NM_000180.4(GUCY2D):c.1457A>G (p.Tyr486Cys)
|
|
|
NM_000180.4(GUCY2D):c.145G>A (p.Ala49Thr)
|
|
|
NM_000180.4(GUCY2D):c.1464-3C>G
|
|
|
NM_000180.4(GUCY2D):c.1472T>C (p.Leu491Pro)
|
|
|
NM_000180.4(GUCY2D):c.1480A>G (p.Met494Val)
|
|
|
NM_000180.4(GUCY2D):c.1482G>A (p.Met494Ile)
|
rs2151800878
|
|
NM_000180.4(GUCY2D):c.1489G>A (p.Val497Ile)
|
rs767360120
|
|
NM_000180.4(GUCY2D):c.1489G>T (p.Val497Phe)
|
rs767360120
|
|
NM_000180.4(GUCY2D):c.1501A>G (p.Asn501Asp)
|
rs1975767998
|
|
NM_000180.4(GUCY2D):c.1517C>G (p.Thr506Ser)
|
|
|
NM_000180.4(GUCY2D):c.1522GAC[1] (p.Asp509del)
|
rs879629840
|
|
NM_000180.4(GUCY2D):c.1544C>T (p.Pro515Leu)
|
rs1975769511
|
|
NM_000180.4(GUCY2D):c.1576G>A (p.Gly526Arg)
|
rs1975777337
|
|
NM_000180.4(GUCY2D):c.1580G>A (p.Ser527Asn)
|
|
|
NM_000180.4(GUCY2D):c.1595G>C (p.Gly532Ala)
|
|
|
NM_000180.4(GUCY2D):c.1601G>T (p.Arg534Leu)
|
|
|
NM_000180.4(GUCY2D):c.1619G>A (p.Arg540His)
|
rs372005126
|
|
NM_000180.4(GUCY2D):c.1619G>T (p.Arg540Leu)
|
rs372005126
|
|
NM_000180.4(GUCY2D):c.1627C>T (p.Pro543Ser)
|
|
|
NM_000180.4(GUCY2D):c.1647C>A (p.Ser549Arg)
|
|
|
NM_000180.4(GUCY2D):c.1660G>A (p.Val554Ile)
|
rs1975779836
|
|
NM_000180.4(GUCY2D):c.1668+4A>T
|
|
|
NM_000180.4(GUCY2D):c.169G>C (p.Gly57Arg)
|
|
|
NM_000180.4(GUCY2D):c.1714G>C (p.Ala572Pro)
|
|
|
NM_000180.4(GUCY2D):c.1748A>C (p.Lys583Thr)
|
|
|
NM_000180.4(GUCY2D):c.1749G>C (p.Lys583Asn)
|
|
|
NM_000180.4(GUCY2D):c.1750-6T>C
|
|
|
NM_000180.4(GUCY2D):c.1759C>G (p.Leu587Val)
|
|
|
NM_000180.4(GUCY2D):c.1759C>T (p.Leu587Phe)
|
|
|
NM_000180.4(GUCY2D):c.1766A>G (p.His589Arg)
|
rs2151802328
|
|
NM_000180.4(GUCY2D):c.1770G>T (p.Glu590Asp)
|
|
|
NM_000180.4(GUCY2D):c.1771A>G (p.Asn591Asp)
|
rs1975862803
|
|
NM_000180.4(GUCY2D):c.1774G>A (p.Val592Met)
|
rs373362030
|
|
NM_000180.4(GUCY2D):c.1780C>T (p.Leu594Phe)
|
|
|
NM_000180.4(GUCY2D):c.1781T>A (p.Leu594His)
|
|
|
NM_000180.4(GUCY2D):c.1787T>A (p.Leu596Gln)
|
|
|
NM_000180.4(GUCY2D):c.1802C>T (p.Ala601Val)
|
|
|
NM_000180.4(GUCY2D):c.1804C>T (p.Arg602Trp)
|
rs770740012
|
|
NM_000180.4(GUCY2D):c.1817G>A (p.Gly606Asp)
|
rs1451847992
|
|
NM_000180.4(GUCY2D):c.1825G>A (p.Ala609Thr)
|
rs1009884304
|
|
NM_000180.4(GUCY2D):c.1828C>G (p.Leu610Val)
|
|
|
NM_000180.4(GUCY2D):c.1838G>T (p.Gly613Val)
|
rs2151802372
|
|
NM_000180.4(GUCY2D):c.1841A>C (p.Asn614Thr)
|
rs1975865453
|
|
NM_000180.4(GUCY2D):c.1841A>G (p.Asn614Ser)
|
rs1975865453
|
|
NM_000180.4(GUCY2D):c.1843C>G (p.Leu615Val)
|
|
|
NM_000180.4(GUCY2D):c.1847C>T (p.Ala616Val)
|
|
|
NM_000180.4(GUCY2D):c.1865G>T (p.Cys622Phe)
|
|
|
NM_000180.4(GUCY2D):c.1868C>G (p.Thr623Arg)
|
|
|
NM_000180.4(GUCY2D):c.1894G>A (p.Ala632Thr)
|
|
|
NM_000180.4(GUCY2D):c.1904A>G (p.Glu635Gly)
|
rs1975867670
|
|
NM_000180.4(GUCY2D):c.1915G>T (p.Asp639Tyr)
|
|
|
NM_000180.4(GUCY2D):c.1956+11G>A
|
|
|
NM_000180.4(GUCY2D):c.1960A>C (p.Ile654Leu)
|
|
|
NM_000180.4(GUCY2D):c.1976A>G (p.His659Arg)
|
|
|
NM_000180.4(GUCY2D):c.1978C>G (p.Arg660Gly)
|
rs61750161
|
|
NM_000180.4(GUCY2D):c.2015G>A (p.Cys672Tyr)
|
rs1975873821
|
|
NM_000180.4(GUCY2D):c.2052C>A (p.Asp684Glu)
|
rs935195316
|
|
NM_000180.4(GUCY2D):c.2093C>G (p.Pro698Arg)
|
rs200128473
|
|
NM_000180.4(GUCY2D):c.209G>C (p.Arg70Pro)
|
|
|
NM_000180.4(GUCY2D):c.2107G>A (p.Ala703Thr)
|
rs1270111845
|
|
NM_000180.4(GUCY2D):c.2112G>A (p.Glu704=)
|
|
|
NM_000180.4(GUCY2D):c.2113G>T (p.Asp705Tyr)
|
rs1434526446
|
|
NM_000180.4(GUCY2D):c.2122T>C (p.Trp708Arg)
|
rs1064797217
|
|
NM_000180.4(GUCY2D):c.2153C>G (p.Ala718Gly)
|
rs2151802784
|
|
NM_000180.4(GUCY2D):c.2176G>A (p.Ala726Thr)
|
rs1459595665
|
|
NM_000180.4(GUCY2D):c.2185G>A (p.Val729Ile)
|
|
|
NM_000180.4(GUCY2D):c.2190T>A (p.Phe730Leu)
|
|
|
NM_000180.4(GUCY2D):c.2204T>C (p.Ile735Thr)
|
rs1975891409
|
|
NM_000180.4(GUCY2D):c.2206A>G (p.Met736Val)
|
rs2151802824
|
|
NM_000180.4(GUCY2D):c.2207T>C (p.Met736Thr)
|
|
|
NM_000180.4(GUCY2D):c.2224C>T (p.Arg742Cys)
|
rs532577225
|
|
NM_000180.4(GUCY2D):c.2266GTG[1] (p.Val757del)
|
rs2151803037
|
|
NM_000180.4(GUCY2D):c.2290C>G (p.Pro764Ala)
|
|
|
NM_000180.4(GUCY2D):c.2290C>T (p.Pro764Ser)
|
rs1975906957
|
|
NM_000180.4(GUCY2D):c.2312T>A (p.Val771Glu)
|
rs2151803073
|
|
NM_000180.4(GUCY2D):c.2326G>A (p.Ala776Thr)
|
|
|
NM_000180.4(GUCY2D):c.232_243dup (p.Arg78_Ala81dup)
|
rs1975666989
|
|
NM_000180.4(GUCY2D):c.2335G>A (p.Glu779Lys)
|
|
|
NM_000180.4(GUCY2D):c.2339G>A (p.Cys780Tyr)
|
rs1187359735
|
|
NM_000180.4(GUCY2D):c.2348T>C (p.Leu783Pro)
|
rs1166312966
|
|
NM_000180.4(GUCY2D):c.2351T>C (p.Met784Thr)
|
|
|
NM_000180.4(GUCY2D):c.2354A>C (p.Lys785Thr)
|
|
|
NM_000180.4(GUCY2D):c.2375C>T (p.Pro792Leu)
|
|
|
NM_000180.4(GUCY2D):c.2377G>A (p.Glu793Lys)
|
|
|
NM_000180.4(GUCY2D):c.238_252dup (p.Ala80_Leu84dup)
|
rs952193754
|
|
NM_000180.4(GUCY2D):c.2392A>G (p.Met798Val)
|
rs1975911307
|
|
NM_000180.4(GUCY2D):c.239C>T (p.Ala80Val)
|
|
|
NM_000180.4(GUCY2D):c.2402C>A (p.Thr801Asn)
|
|
|
NM_000180.4(GUCY2D):c.2412G>T (p.Leu804=)
|
|
|
NM_000180.4(GUCY2D):c.2431G>A (p.Gly811Ser)
|
rs1196292120
|
|
NM_000180.4(GUCY2D):c.2434C>G (p.Arg812Gly)
|
rs894774212
|
|
NM_000180.4(GUCY2D):c.2434C>T (p.Arg812Trp)
|
|
|
NM_000180.4(GUCY2D):c.2450T>C (p.Ile817Thr)
|
|
|
NM_000180.4(GUCY2D):c.2464C>T (p.Arg822Trp)
|
|
|
NM_000180.4(GUCY2D):c.2465G>A (p.Arg822Gln)
|
|
|
NM_000180.4(GUCY2D):c.2465G>C (p.Arg822Pro)
|
rs398123233
|
|
NM_000180.4(GUCY2D):c.2473G>A (p.Glu825Lys)
|
|
|
NM_000180.4(GUCY2D):c.2479T>G (p.Tyr827Asp)
|
rs2151803325
|
|
NM_000180.4(GUCY2D):c.2480A>G (p.Tyr827Cys)
|
rs1975925661
|
|
NM_000180.4(GUCY2D):c.2492T>C (p.Leu831Pro)
|
rs1975925973
|
|
NM_000180.4(GUCY2D):c.2494G>A (p.Glu832Lys)
|
rs1975926150
|
|
NM_000180.4(GUCY2D):c.2515A>C (p.Thr839Pro)
|
|
|
NM_000180.4(GUCY2D):c.2516C>G (p.Thr839Arg)
|
rs61750174
|
|
NM_000180.4(GUCY2D):c.2523GCTGGA[3] (p.Glu845_Lys846insLeuGlu)
|
|
|
NM_000180.4(GUCY2D):c.2531T>C (p.Leu844Pro)
|
rs962715477
|
|
NM_000180.4(GUCY2D):c.2572C>A (p.Pro858Thr)
|
rs61750176
|
|
NM_000180.4(GUCY2D):c.2600C>A (p.Thr867Lys)
|
rs375727197
|
|
NM_000180.4(GUCY2D):c.260A>C (p.Asp87Ala)
|
|
|
NM_000180.4(GUCY2D):c.2618C>G (p.Pro873Arg)
|
rs1567961680
|
|
NM_000180.4(GUCY2D):c.2624A>G (p.Tyr875Cys)
|
rs1300820031
|
|
NM_000180.4(GUCY2D):c.2626T>A (p.Phe876Ile)
|
|
|
NM_000180.4(GUCY2D):c.2634A>G (p.Gln878=)
|
|
|
NM_000180.4(GUCY2D):c.2659G>T (p.Val887Leu)
|
|
|
NM_000180.4(GUCY2D):c.2674A>G (p.Ile892Val)
|
rs1165720101
|
|
NM_000180.4(GUCY2D):c.2685G>A (p.Met895Ile)
|
|
|
NM_000180.4(GUCY2D):c.2707G>T (p.Asp903Tyr)
|
rs1975936032
|
|
NM_000180.4(GUCY2D):c.272C>A (p.Ala91Glu)
|
|
|
NM_000180.4(GUCY2D):c.2746A>G (p.Ile916Val)
|
|
|
NM_000180.4(GUCY2D):c.2749G>T (p.Gly917Cys)
|
|
|
NM_000180.4(GUCY2D):c.2779A>G (p.Ile927Val)
|
rs1975943872
|
|
NM_000180.4(GUCY2D):c.277G>C (p.Gly93Arg)
|
rs749432012
|
|
NM_000180.4(GUCY2D):c.2788G>A (p.Ala930Thr)
|
rs1370972064
|
|
NM_000180.4(GUCY2D):c.2813C>G (p.Pro938Arg)
|
rs1975945188
|
|
NM_000180.4(GUCY2D):c.2830C>G (p.Arg944Gly)
|
rs756575304
|
|
NM_000180.4(GUCY2D):c.2836G>C (p.Ala946Pro)
|
|
|
NM_000180.4(GUCY2D):c.2837C>A (p.Ala946Glu)
|
rs61750180
|
|
NM_000180.4(GUCY2D):c.2842G>A (p.Glu948Lys)
|
rs2151803652
|
|
NM_000180.4(GUCY2D):c.2845A>C (p.Ile949Leu)
|
|
|
NM_000180.4(GUCY2D):c.284G>C (p.Arg95Pro)
|
rs1285198149
|
|
NM_000180.4(GUCY2D):c.2878G>C (p.Val960Leu)
|
|
|
NM_000180.4(GUCY2D):c.2881G>C (p.Gly961Arg)
|
rs2151803673
|
|
NM_000180.4(GUCY2D):c.2882G>T (p.Gly961Val)
|
|
|
NM_000180.4(GUCY2D):c.2896C>G (p.Arg966Gly)
|
rs933256547
|
|
NM_000180.4(GUCY2D):c.2897G>A (p.Arg966His)
|
|
|
NM_000180.4(GUCY2D):c.289G>A (p.Glu97Lys)
|
|
|
NM_000180.4(GUCY2D):c.2900A>G (p.His967Arg)
|
|
|
NM_000180.4(GUCY2D):c.2904G>T (p.Met968Ile)
|
rs1975948376
|
|
NM_000180.4(GUCY2D):c.2917G>A (p.Val973Met)
|
|
|
NM_000180.4(GUCY2D):c.2927G>T (p.Arg976Leu)
|
rs61750184
|
|
NM_000180.4(GUCY2D):c.2929A>T (p.Ile977Leu)
|
|
|
NM_000180.4(GUCY2D):c.2933G>A (p.Gly978Asp)
|
rs754320374
|
|
NM_000180.4(GUCY2D):c.2933G>C (p.Gly978Ala)
|
|
|
NM_000180.4(GUCY2D):c.2933G>T (p.Gly978Val)
|
rs754320374
|
|
NM_000180.4(GUCY2D):c.2938C>T (p.His980Tyr)
|
|
|
NM_000180.4(GUCY2D):c.2945-7_2945-6del
|
rs754170656
|
|
NM_000180.4(GUCY2D):c.2950T>C (p.Cys984Arg)
|
rs1975956164
|
|
NM_000180.4(GUCY2D):c.295G>T (p.Ala99Ser)
|
rs1304984076
|
|
NM_000180.4(GUCY2D):c.2965G>C (p.Val989Leu)
|
rs1248867031
|
|
NM_000180.4(GUCY2D):c.2978del (p.Met993fs)
|
rs1598151437
|
|
NM_000180.4(GUCY2D):c.3005C>T (p.Thr1002Met)
|
rs1462685344
|
|
NM_000180.4(GUCY2D):c.305C>A (p.Pro102His)
|
|
|
NM_000180.4(GUCY2D):c.3067A>G (p.Ser1023Gly)
|
|
|
NM_000180.4(GUCY2D):c.3085C>T (p.Arg1029Cys)
|
|
|
NM_000180.4(GUCY2D):c.3101G>A (p.Gly1034Asp)
|
|
|
NM_000180.4(GUCY2D):c.3106C>A (p.Gln1036Lys)
|
rs61750192
|
|
NM_000180.4(GUCY2D):c.3122G>A (p.Gly1041Asp)
|
rs1975964730
|
|
NM_000180.4(GUCY2D):c.3125G>A (p.Arg1042His)
|
|
|
NM_000180.4(GUCY2D):c.3128C>T (p.Thr1043Met)
|
rs1289590584
|
|
NM_000180.4(GUCY2D):c.3137A>G (p.Lys1046Arg)
|
|
|
NM_000180.4(GUCY2D):c.3139-3C>G
|
rs771769796
|
|
NM_000180.4(GUCY2D):c.3140G>A (p.Gly1047Asp)
|
|
|
NM_000180.4(GUCY2D):c.3148G>T (p.Ala1050Ser)
|
rs1221467842
|
|
NM_000180.4(GUCY2D):c.3151G>A (p.Glu1051Lys)
|
rs1273973537
|
|
NM_000180.4(GUCY2D):c.3167T>C (p.Leu1056Pro)
|
rs2151804090
|
|
NM_000180.4(GUCY2D):c.317G>T (p.Arg106Leu)
|
|
|
NM_000180.4(GUCY2D):c.3188A>G (p.Asn1063Ser)
|
rs1975972260
|
|
NM_000180.4(GUCY2D):c.319A>G (p.Thr107Ala)
|
rs2151799362
|
|
NM_000180.4(GUCY2D):c.3200C>A (p.Pro1067His)
|
|
|
NM_000180.4(GUCY2D):c.3224+3G>T
|
rs1258995063
|
|
NM_000180.4(GUCY2D):c.3224+6G>A
|
|
|
NM_000180.4(GUCY2D):c.3225-2A>T
|
|
|
NM_000180.4(GUCY2D):c.323C>T (p.Pro108Leu)
|
rs2151799367
|
|
NM_000180.4(GUCY2D):c.3258C>G (p.Ile1086Met)
|
|
|
NM_000180.4(GUCY2D):c.325G>T (p.Gly109Cys)
|
|
|
NM_000180.4(GUCY2D):c.3265G>A (p.Glu1089Lys)
|
rs779735498
|
|
NM_000180.4(GUCY2D):c.3265G>C (p.Glu1089Gln)
|
|
|
NM_000180.4(GUCY2D):c.3268C>T (p.Arg1090Trp)
|
|
|
NM_000180.4(GUCY2D):c.3269G>A (p.Arg1090Gln)
|
rs371952237
|
|
NM_000180.4(GUCY2D):c.3289G>T (p.Ala1097Ser)
|
|
|
NM_000180.4(GUCY2D):c.3292C>G (p.Arg1098Gly)
|
rs776624188
|
|
NM_000180.4(GUCY2D):c.3292C>T (p.Arg1098Trp)
|
rs776624188
|
|
NM_000180.4(GUCY2D):c.3311G>C (p.Ter1104Ser)
|
rs1301554038
|
|
NM_000180.4(GUCY2D):c.340G>T (p.Val114Leu)
|
rs1240857882
|
|
NM_000180.4(GUCY2D):c.346T>C (p.Ser116Pro)
|
rs2151799381
|
|
NM_000180.4(GUCY2D):c.392C>A (p.Ala131Glu)
|
|
|
NM_000180.4(GUCY2D):c.400C>T (p.Arg134Trp)
|
rs2151799404
|
|
NM_000180.4(GUCY2D):c.40C>A (p.Pro14Thr)
|
|
|
NM_000180.4(GUCY2D):c.40C>G (p.Pro14Ala)
|
rs1975658549
|
|
NM_000180.4(GUCY2D):c.411G>C (p.Glu137Asp)
|
|
|
NM_000180.4(GUCY2D):c.418G>A (p.Ala140Thr)
|
rs776276813
|
|
NM_000180.4(GUCY2D):c.431G>T (p.Gly144Val)
|
rs1975674167
|
|
NM_000180.4(GUCY2D):c.448T>C (p.Trp150Arg)
|
|
|
NM_000180.4(GUCY2D):c.449G>C (p.Trp150Ser)
|
|
|
NM_000180.4(GUCY2D):c.457C>T (p.Pro153Ser)
|
|
|
NM_000180.4(GUCY2D):c.475G>A (p.Gly159Ser)
|
rs1975674812
|
|
NM_000180.4(GUCY2D):c.485C>A (p.Ala162Asp)
|
|
|
NM_000180.4(GUCY2D):c.490G>A (p.Ala164Thr)
|
|
|
NM_000180.4(GUCY2D):c.49T>C (p.Cys17Arg)
|
rs1008930073
|
|
NM_000180.4(GUCY2D):c.520G>T (p.Ala174Ser)
|
rs978982123
|
|
NM_000180.4(GUCY2D):c.521C>A (p.Ala174Asp)
|
|
|
NM_000180.4(GUCY2D):c.526C>T (p.Leu176Phe)
|
rs1975677447
|
|
NM_000180.4(GUCY2D):c.533C>T (p.Ala178Val)
|
|
|
NM_000180.4(GUCY2D):c.569C>G (p.Pro190Arg)
|
rs1484809146
|
|
NM_000180.4(GUCY2D):c.590C>T (p.Ala197Val)
|
|
|
NM_000180.4(GUCY2D):c.595C>T (p.Arg199Cys)
|
rs917296356
|
|
NM_000180.4(GUCY2D):c.596G>C (p.Arg199Pro)
|
rs1370721862
|
|
NM_000180.4(GUCY2D):c.598T>C (p.Ser200Pro)
|
|
|
NM_000180.4(GUCY2D):c.607A>T (p.Thr203Ser)
|
rs1975680506
|
|
NM_000180.4(GUCY2D):c.608C>T (p.Thr203Met)
|
rs1975680589
|
|
NM_000180.4(GUCY2D):c.685G>T (p.Ala229Ser)
|
|
|
NM_000180.4(GUCY2D):c.693G>T (p.Arg231Ser)
|
rs759280279
|
|
NM_000180.4(GUCY2D):c.705C>A (p.Asp235Glu)
|
|
|
NM_000180.4(GUCY2D):c.721+5G>C
|
|
|
NM_000180.4(GUCY2D):c.721+5G>T
|
rs1389913804
|
|
NM_000180.4(GUCY2D):c.722-17C>T
|
|
|
NM_000180.4(GUCY2D):c.725T>G (p.Val242Gly)
|
rs1975686657
|
|
NM_000180.4(GUCY2D):c.736A>G (p.Met246Val)
|
rs959135126
|
|
NM_000180.4(GUCY2D):c.740A>G (p.His247Arg)
|
rs768206746
|
|
NM_000180.4(GUCY2D):c.743C>G (p.Ser248Trp)
|
rs138922415
|
|
NM_000180.4(GUCY2D):c.752T>C (p.Leu251Pro)
|
rs1243270832
|
|
NM_000180.4(GUCY2D):c.763G>A (p.Glu255Lys)
|
|
|
NM_000180.4(GUCY2D):c.767A>C (p.Gln256Pro)
|
rs2151799650
|
|
NM_000180.4(GUCY2D):c.785C>A (p.Ala262Asp)
|
|
|
NM_000180.4(GUCY2D):c.787G>C (p.Ala263Pro)
|
|
|
NM_000180.4(GUCY2D):c.787G>T (p.Ala263Ser)
|
rs745444949
|
|
NM_000180.4(GUCY2D):c.796C>G (p.Leu266Val)
|
|
|
NM_000180.4(GUCY2D):c.835G>A (p.Asp279Asn)
|
rs1478566225
|
|
NM_000180.4(GUCY2D):c.838A>G (p.Thr280Ala)
|
|
|
NM_000180.4(GUCY2D):c.856_876dup (p.Ser286_Leu292dup)
|
rs2151799690
|
|
NM_000180.4(GUCY2D):c.857C>T (p.Ser286Phe)
|
|
|
NM_000180.4(GUCY2D):c.85C>T (p.Leu29Phe)
|
|
|
NM_000180.4(GUCY2D):c.884T>G (p.Leu295Arg)
|
rs2151799705
|
|
NM_000180.4(GUCY2D):c.890A>G (p.Asn297Ser)
|
|
|
NM_000180.4(GUCY2D):c.915C>G (p.His305Gln)
|
|
|
NM_000180.4(GUCY2D):c.91C>G (p.Arg31Gly)
|
|
|
NM_000180.4(GUCY2D):c.92G>A (p.Arg31Gln)
|
|
|
NM_000180.4(GUCY2D):c.934A>G (p.Thr312Ala)
|
|
|
NM_000180.4(GUCY2D):c.935C>A (p.Thr312Lys)
|
|
|
NM_000180.4(GUCY2D):c.935C>G (p.Thr312Arg)
|
rs61749673
|
|
NM_000180.4(GUCY2D):c.94_105del (p.Ala32_Arg35del)
|
|
|
NM_000180.4(GUCY2D):c.956_967dup (p.Gly319_Leu322dup)
|
rs1248938251
|
|
NM_000180.4(GUCY2D):c.983C>A (p.Ala328Asp)
|
|
|
NM_000180.4(GUCY2D):c.992G>T (p.Arg331Leu)
|
|
|
NM_000180.4(GUCY2D):c.995G>C (p.Arg332Pro)
|
|
|
NM_000180.4(GUCY2D):c.997G>C (p.Glu333Gln)
|
rs755999834
|
|
NM_000272.3(NPHP1):c.625-3dup
|
rs200118387
|
|
NM_000329.3(RPE65):c.*735del
|
rs577675068
|
|
NM_000329.3(RPE65):c.1152C>G (p.Val384=)
|
rs1571158917
|
|
NM_000329.3(RPE65):c.1301C>A (p.Ala434Glu)
|
rs34627040
|
|
NM_000329.3(RPE65):c.1454T>C (p.Val485Ala)
|
rs1645808193
|
|
NM_000329.3(RPE65):c.1574C>A (p.Thr525Asn)
|
rs879123797
|
|
NM_000329.3(RPE65):c.293T>C (p.Ile98Thr)
|
rs1645930635
|
|
NM_000329.3(RPE65):c.505T>C (p.Cys169Arg)
|
rs1645898589
|
|
NM_000329.3(RPE65):c.58G>A (p.Glu20Lys)
|
rs755545288
|
|
NM_000329.3(RPE65):c.718G>T (p.Val240Phe)
|
rs192907397
|
|
NM_000329.3(RPE65):c.751G>A (p.Val251Ile)
|
rs1325815513
|
|
NM_000329.3(RPE65):c.975T>C (p.Ile325=)
|
rs761227832
|
|
NM_000554.6(CRX):c.*1621_*1623dup
|
rs59559801
|
|
NM_000554.6(CRX):c.*435del
|
rs886054551
|
|
NM_000554.6(CRX):c.*754_*756dup
|
rs60558029
|
|
NM_000554.6(CRX):c.*756dup
|
rs60558029
|
|
NM_000883.4(IMPDH1):c.978G>C (p.Gln326His)
|
rs1584727989
|
|
NM_001009894.3(RLIG1):c.*618TATT[1]
|
rs886049876
|
|
NM_001103146.3(GIGYF2):c.532+5018dup
|
rs746052279
|
|
NM_001103146.3(GIGYF2):c.532+6575_532+6576del
|
rs758195599
|
|
NM_001122769.3(LCA5):c.*22dup
|
rs767286706
|
|
NM_001122769.3(LCA5):c.-251G>A
|
rs886061793
|
|
NM_001122769.3(LCA5):c.1101C>T (p.Asp367=)
|
rs1769766843
|
|
NM_001122769.3(LCA5):c.1267G>C (p.Glu423Gln)
|
rs777920075
|
|
NM_001122769.3(LCA5):c.165T>G (p.Thr55=)
|
rs534076319
|
|
NM_001122769.3(LCA5):c.1805C>G (p.Ala602Gly)
|
rs1769692203
|
|
NM_001122769.3(LCA5):c.469A>G (p.Ile157Val)
|
rs901281230
|
|
NM_001122769.3(LCA5):c.484T>C (p.Phe162Leu)
|
rs533963525
|
|
NM_001164688.2(RD3):c.*1305del
|
rs886045896
|
|
NM_001164688.2(RD3):c.*1582del
|
rs879756831
|
|
NM_001164688.2(RD3):c.*1582dup
|
rs879756831
|
|
NM_001164688.2(RD3):c.*1583del
|
rs775682217
|
|
NM_001164688.2(RD3):c.-166GA[1]
|
rs886045903
|
|
NM_001164688.2(RD3):c.-292_-291del
|
rs1553282313
|
|
NM_001164688.2(RD3):c.-302_-294delinsC
|
rs886045910
|
|
NM_001164688.2(RD3):c.-304_-294delinsC
|
rs886045911
|
|
NM_001164688.2(RD3):c.-336AC[16]
|
rs34485370
|
|
NM_001164688.2(RD3):c.-336AC[19]
|
rs34485370
|
|
NM_001164688.2(RD3):c.-336AC[20]
|
rs34485370
|
|
NM_001164688.2(RD3):c.-336AC[21]
|
rs34485370
|
|
NM_001164688.2(RD3):c.-336AC[23]
|
rs34485370
|
|
NM_001164688.2(RD3):c.-336AC[24]
|
rs34485370
|
|
NM_001164688.2(RD3):c.-337_-336del
|
rs886045915
|
|
NM_001164688.2(RD3):c.-340_-337del
|
rs886045916
|
|
NM_004744.5(LRAT):c.*2418G>A
|
rs886059170
|
|
NM_004744.5(LRAT):c.*2463T>C
|
rs530211304
|
|
NM_004744.5(LRAT):c.*2467C>G
|
rs886059172
|
|
NM_004744.5(LRAT):c.*2477_*2479del
|
rs769393659
|
|
NM_004744.5(LRAT):c.*298_*301del
|
rs886059162
|
|
NM_004744.5(LRAT):c.*313del
|
rs146990234
|
|
NM_004744.5(LRAT):c.*3435A>C
|
rs886059176
|
|
NM_004744.5(LRAT):c.*3459dup
|
rs369562633
|
|
NM_004744.5(LRAT):c.*3729del
|
rs886059177
|
|
NM_004744.5(LRAT):c.-115C>G
|
rs886059159
|
|
NM_004744.5(LRAT):c.258G>A (p.Gly86=)
|
rs768389044
|
|
NM_004744.5(LRAT):c.298G>A (p.Gly100Ser)
|
rs1035206645
|
|
NM_006269.2(RP1):c.1267_1656delinsA (p.Ala423fs)
|
rs1554519422
|
|
NM_014336.5(AIPL1):c.*1398G>A
|
rs886053259
|
|
NM_014336.5(AIPL1):c.*150_*151insCAA
|
rs200523461
|
|
NM_014336.5(AIPL1):c.*151_*152dup
|
rs77115868
|
|
NM_014336.5(AIPL1):c.*153_*154del
|
rs886053263
|
|
NM_014336.5(AIPL1):c.*153_*155del
|
rs886053262
|
|
NM_014336.5(AIPL1):c.*730dup
|
rs559951043
|
|
NM_014336.5(AIPL1):c.*887CAAAA[2]
|
rs375369909
|
|
NM_014336.5(AIPL1):c.465G>T (p.Gln155His)
|
rs758001091
|
|
NM_014336.5(AIPL1):c.730GAG[1] (p.Glu245del)
|
rs1200311161
|
|
NM_014714.4(IFT140):c.2501G>C (p.Arg834Pro)
|
rs771116194
|
|
NM_014714.4(IFT140):c.2834T>C (p.Leu945Pro)
|
rs2141175065
|
|
NM_014989.7(RIMS1):c.3139del (p.Thr1047fs)
|
rs587783021
|
|
NM_015102.5(NPHP4):c.2360T>A (p.Val787Glu)
|
rs587783026
|
|
NM_015629.4(PRPF31):c.1336T>C (p.Ser446Pro)
|
rs1600361737
|
|
NM_020366.4(RPGRIP1):c.3748+17dup
|
rs578107768
|
|
NM_025114.4(CEP290):c.1142A>G (p.Asn381Ser)
|
rs1295338042
|
|
NM_025114.4(CEP290):c.1333C>G (p.Leu445Val)
|
rs2039364974
|
|
NM_025114.4(CEP290):c.1349A>G (p.Asp450Gly)
|
rs777867610
|
|
NM_025114.4(CEP290):c.1516C>T (p.Arg506Cys)
|
rs368427967
|
|
NM_025114.4(CEP290):c.1522+8A>G
|
rs1410927153
|
|
NM_025114.4(CEP290):c.1589A>G (p.Gln530Arg)
|
rs1390141039
|
|
NM_025114.4(CEP290):c.1624-5T>G
|
rs142742071
|
|
NM_025114.4(CEP290):c.1747A>G (p.Ile583Val)
|
rs1459958084
|
|
NM_025114.4(CEP290):c.188C>T (p.Ala63Val)
|
rs769705891
|
|
NM_025114.4(CEP290):c.2033G>T (p.Ser678Ile)
|
rs2038915965
|
|
NM_025114.4(CEP290):c.2053G>A (p.Ala685Thr)
|
rs2038714969
|
|
NM_025114.4(CEP290):c.2090C>G (p.Ala697Gly)
|
rs200454865
|
|
NM_025114.4(CEP290):c.2090C>T (p.Ala697Val)
|
rs200454865
|
|
NM_025114.4(CEP290):c.2191C>A (p.Gln731Lys)
|
rs767250881
|
|
NM_025114.4(CEP290):c.2217+3G>A
|
rs765291878
|
|
NM_025114.4(CEP290):c.2217+3G>C
|
rs765291878
|
|
NM_025114.4(CEP290):c.2245C>T (p.Leu749Phe)
|
rs2038674474
|
|
NM_025114.4(CEP290):c.2252G>A (p.Arg751Gln)
|
rs1360220092
|
|
NM_025114.4(CEP290):c.2279T>C (p.Phe760Ser)
|
rs1488946278
|
|
NM_025114.4(CEP290):c.2317A>T (p.Ser773Cys)
|
rs748976722
|
|
NM_025114.4(CEP290):c.231A>G (p.Gly77=)
|
rs753852812
|
|
NM_025114.4(CEP290):c.2326A>G (p.Ile776Val)
|
rs2038667289
|
|
NM_025114.4(CEP290):c.2379_2381del (p.Asn793del)
|
rs2038499476
|
|
NM_025114.4(CEP290):c.2400T>G (p.Asn800Lys)
|
rs2038497441
|
|
NM_025114.4(CEP290):c.2440G>T (p.Val814Leu)
|
rs955251811
|
|
NM_025114.4(CEP290):c.2484-18GTTTT[4]
|
rs745522483
|
|
NM_025114.4(CEP290):c.2670A>C (p.Gln890His)
|
rs2038316964
|
|
NM_025114.4(CEP290):c.2697A>G (p.Gln899=)
|
rs770769486
|
|
NM_025114.4(CEP290):c.2928C>T (p.Tyr976=)
|
rs1393060819
|
|
NM_025114.4(CEP290):c.2946A>T (p.Lys982Asn)
|
rs2037999495
|
|
NM_025114.4(CEP290):c.2951A>T (p.Asn984Ile)
|
rs2037998907
|
|
NM_025114.4(CEP290):c.3040C>T (p.Leu1014=)
|
rs2037475960
|
|
NM_025114.4(CEP290):c.3181A>G (p.Met1061Val)
|
rs1201486566
|
|
NM_025114.4(CEP290):c.3215G>A (p.Arg1072Gln)
|
rs1298561837
|
|
NM_025114.4(CEP290):c.3239A>G (p.Tyr1080Cys)
|
rs902039539
|
|
NM_025114.4(CEP290):c.3250C>G (p.Arg1084Gly)
|
rs372918770
|
|
NM_025114.4(CEP290):c.3250C>T (p.Arg1084Trp)
|
rs372918770
|
|
NM_025114.4(CEP290):c.328A>G (p.Thr110Ala)
|
rs750018041
|
|
NM_025114.4(CEP290):c.3309+2_3309+3dup
|
rs886049881
|
|
NM_025114.4(CEP290):c.3321C>T (p.Ile1107=)
|
rs2037149786
|
|
NM_025114.4(CEP290):c.3418G>A (p.Glu1140Lys)
|
rs766095901
|
|
NM_025114.4(CEP290):c.3481A>T (p.Ile1161Phe)
|
rs2036979298
|
|
NM_025114.4(CEP290):c.3605A>G (p.Lys1202Arg)
|
rs375065584
|
|
NM_025114.4(CEP290):c.3675A>C (p.Thr1225=)
|
rs2036843900
|
|
NM_025114.4(CEP290):c.3682C>G (p.Leu1228Val)
|
rs1282211647
|
|
NM_025114.4(CEP290):c.3905A>C (p.Gln1302Pro)
|
rs1064794650
|
|
NM_025114.4(CEP290):c.3948C>T (p.Asn1316=)
|
rs1361449401
|
|
NM_025114.4(CEP290):c.3950A>C (p.Lys1317Thr)
|
rs778137534
|
|
NM_025114.4(CEP290):c.3980G>A (p.Gly1327Asp)
|
rs959651787
|
|
NM_025114.4(CEP290):c.4087C>T (p.Arg1363Trp)
|
rs181121175
|
|
NM_025114.4(CEP290):c.4097T>G (p.Val1366Gly)
|
rs1270381017
|
|
NM_025114.4(CEP290):c.4366G>A (p.Ala1456Thr)
|
rs375111436
|
|
NM_025114.4(CEP290):c.442-11del
|
rs199511358
|
|
NM_025114.4(CEP290):c.442-22_442-21dup
|
rs199511358
|
|
NM_025114.4(CEP290):c.442-22dup
|
rs199511358
|
|
NM_025114.4(CEP290):c.4682G>A (p.Arg1561His)
|
rs371157150
|
|
NM_025114.4(CEP290):c.502C>T (p.Arg168Cys)
|
rs760856790
|
|
NM_025114.4(CEP290):c.5145T>G (p.Asn1715Lys)
|
rs568619750
|
|
NM_025114.4(CEP290):c.5226+5_5226+8del
|
rs1353301232
|
|
NM_025114.4(CEP290):c.5227-14del
|
rs747878752
|
|
NM_025114.4(CEP290):c.5228C>T (p.Ala1743Val)
|
rs951910051
|
|
NM_025114.4(CEP290):c.5366C>T (p.Thr1789Ile)
|
rs2035901966
|
|
NM_025114.4(CEP290):c.5577_5579del (p.Ser1859_Gly1860delinsArg)
|
rs2035881706
|
|
NM_025114.4(CEP290):c.5742A>C (p.Glu1914Asp)
|
rs2035405223
|
|
NM_025114.4(CEP290):c.5777G>A (p.Arg1926Gln)
|
rs778030031
|
|
NM_025114.4(CEP290):c.5852C>G (p.Ala1951Gly)
|
rs2035394009
|
|
NM_025114.4(CEP290):c.58C>T (p.Arg20Cys)
|
rs779867970
|
|
NM_025114.4(CEP290):c.5972A>C (p.Lys1991Thr)
|
rs1178644600
|
|
NM_025114.4(CEP290):c.5999T>C (p.Ile2000Thr)
|
rs1592782496
|
|
NM_025114.4(CEP290):c.6037T>G (p.Ser2013Ala)
|
rs2136913105
|
|
NM_025114.4(CEP290):c.6135A>G (p.Ser2045=)
|
rs2035114777
|
|
NM_025114.4(CEP290):c.6218T>C (p.Ile2073Thr)
|
rs2034695558
|
|
NM_025114.4(CEP290):c.623T>G (p.Leu208Trp)
|
rs2039987503
|
|
NM_025114.4(CEP290):c.6354A>T (p.Arg2118Ser)
|
rs762397066
|
|
NM_025114.4(CEP290):c.6489G>A (p.Met2163Ile)
|
rs1017249180
|
|
NM_025114.4(CEP290):c.6548A>C (p.His2183Pro)
|
rs2034340081
|
|
NM_025114.4(CEP290):c.6573C>G (p.His2191Gln)
|
rs1316821873
|
|
NM_025114.4(CEP290):c.6893A>G (p.Gln2298Arg)
|
rs1337960015
|
|
NM_025114.4(CEP290):c.6960+5_6960+8del
|
rs2033930168
|
|
NM_025114.4(CEP290):c.7124T>C (p.Ile2375Thr)
|
rs540340404
|
|
NM_025114.4(CEP290):c.7133C>G (p.Ala2378Gly)
|
rs1565777729
|
|
NM_025114.4(CEP290):c.7209+11_7209+14del
|
rs750259100
|
|
NM_025114.4(CEP290):c.7209+7T>C
|
rs745813087
|
|
NM_025114.4(CEP290):c.7381GCT[1] (p.Ala2462del)
|
rs1345322609
|
|
NM_025114.4(CEP290):c.7392_7393insCA (p.Glu2465fs)
|
rs757255407
|
|
NM_025114.4(CEP290):c.7397T>C (p.Phe2466Ser)
|
rs1159836808
|
|
NM_025114.4(CEP290):c.7405GAA[2] (p.Glu2471del)
|
rs777398895
|
|
NM_025114.4(CEP290):c.753G>T (p.Glu251Asp)
|
rs2039957080
|
|
NM_025114.4(CEP290):c.790G>T (p.Val264Leu)
|
rs1242440672
|
|
NM_025114.4(CEP290):c.835G>T (p.Asp279Tyr)
|
rs796540607
|
|
NM_025114.4(CEP290):c.916G>A (p.Val306Ile)
|
rs558949569
|
|
NM_025114.4(CEP290):c.92C>T (p.Ser31Phe)
|
rs1378106199
|
|
NM_025114.4(CEP290):c.984G>C (p.Gln328His)
|
rs776256270
|
|
NM_152443.3(RDH12):c.*1C>G
|
rs2038317945
|
|
NM_152443.3(RDH12):c.185G>T (p.Arg62Leu)
|
rs778481181
|
|
NM_152443.3(RDH12):c.187+5G>A
|
rs2038164046
|
|
NM_152443.3(RDH12):c.26CCT[1] (p.Ser10del)
|
rs754556714
|
|
NM_152443.3(RDH12):c.2T>C (p.Met1Thr)
|
|
|
NM_152443.3(RDH12):c.540T>G (p.Ile180Met)
|
rs778933833
|
|
NM_152443.3(RDH12):c.608G>C (p.Ser203Thr)
|
rs1374822427
|
|
NM_152443.3(RDH12):c.634C>G (p.Arg212Gly)
|
rs146653515
|
|
NM_152443.3(RDH12):c.641T>C (p.Leu214Pro)
|
rs998898101
|
|
NM_152443.3(RDH12):c.739C>T (p.Leu247Phe)
|
rs1185491186
|
|
NM_152443.3(RDH12):c.758C>G (p.Pro253Arg)
|
rs770465995
|
|
NM_152443.3(RDH12):c.758C>T (p.Pro253Leu)
|
rs770465995
|
|
NM_152443.3(RDH12):c.771G>A (p.Thr257=)
|
rs1035808739
|
|
NM_152443.3(RDH12):c.878G>T (p.Arg293Met)
|
rs746131696
|
|
NM_152443.3(RDH12):c.910T>C (p.Trp304Arg)
|
rs878853339
|
|
NM_153240.5(NPHP3):c.1735A>C (p.Thr579Pro)
|
rs587783022
|
|
NM_201253.3(CRB1):c.*331_*337dup
|
rs886045790
|
|
NM_201253.3(CRB1):c.1093C>T (p.Arg365Cys)
|
rs116347915
|
|
NM_201253.3(CRB1):c.1094G>A (p.Arg365His)
|
rs777528044
|
|
NM_201253.3(CRB1):c.1292C>T (p.Thr431Ile)
|
rs751691851
|
|
NM_201253.3(CRB1):c.1313G>A (p.Cys438Tyr)
|
rs1571522690
|
|
NM_201253.3(CRB1):c.1426A>G (p.Thr476Ala)
|
rs1553260314
|
|
NM_201253.3(CRB1):c.1431G>A (p.Gly477=)
|
rs761872993
|
|
NM_201253.3(CRB1):c.200G>C (p.Cys67Ser)
|
rs749112809
|
|
NM_201253.3(CRB1):c.2056C>T (p.Arg686Cys)
|
rs1204363918
|
|
NM_201253.3(CRB1):c.2066A>G (p.Asn689Ser)
|
rs1664351600
|
|
NM_201253.3(CRB1):c.2243C>T (p.Pro748Leu)
|
rs1664651920
|
|
NM_201253.3(CRB1):c.2272A>T (p.Ser758Cys)
|
rs201700675
|
|
NM_201253.3(CRB1):c.2275A>G (p.Thr759Ala)
|
rs1485086776
|
|
NM_201253.3(CRB1):c.245G>A (p.Ser82Asn)
|
rs1658661237
|
|
NM_201253.3(CRB1):c.2603C>T (p.Pro868Leu)
|
rs1664680830
|
|
NM_201253.3(CRB1):c.2639A>G (p.Asn880Ser)
|
rs910489135
|
|
NM_201253.3(CRB1):c.2805C>A (p.His935Gln)
|
rs767706271
|
|
NM_201253.3(CRB1):c.2839G>A (p.Glu947Lys)
|
rs574162883
|
|
NM_201253.3(CRB1):c.2909C>T (p.Thr970Ile)
|
rs766793013
|
|
NM_201253.3(CRB1):c.2930C>A (p.Thr977Lys)
|
rs1665046846
|
|
NM_201253.3(CRB1):c.2963T>C (p.Ile988Thr)
|
rs1571555801
|
|
NM_201253.3(CRB1):c.3203C>A (p.Thr1068Asn)
|
rs1452661857
|
|
NM_201253.3(CRB1):c.3343G>C (p.Gly1115Arg)
|
rs779253997
|
|
NM_201253.3(CRB1):c.351C>G (p.Asn117Lys)
|
rs794727317
|
|
NM_201253.3(CRB1):c.3521G>C (p.Cys1174Ser)
|
rs1665102302
|
|
NM_201253.3(CRB1):c.3784G>A (p.Glu1262Lys)
|
rs1007094417
|
|
NM_201253.3(CRB1):c.3974_3976dup (p.Val1325dup)
|
rs750573216
|
|
NM_201253.3(CRB1):c.4154A>G (p.Glu1385Gly)
|
rs1571645627
|
|
NM_201253.3(CRB1):c.4163G>A (p.Gly1388Asp)
|
rs765740058
|
|
NM_201253.3(CRB1):c.479G>A (p.Gly160Glu)
|
rs1352663513
|
|
NM_201253.3(CRB1):c.512C>G (p.Ser171Cys)
|
rs763841981
|
|
NM_201253.3(CRB1):c.796T>A (p.Cys266Ser)
|
rs1659650891
|
|
NM_201253.3(CRB1):c.839G>A (p.Gly280Glu)
|
rs930465675
|
|
NM_201253.3(CRB1):c.97A>G (p.Arg33Gly)
|
rs1452416023
|
|
NM_201253.3(CRB1):c.988+10A>T
|
rs1659846392
|
|
NM_206933.4(USH2A):c.14243C>T (p.Ser4748Phe)
|
rs527236126
|
|