NM_003322.6(TULP1):c.783G>C (p.Lys261Asn)
|
rs2064318
|
0.84569
|
NM_001122769.3(LCA5):c.71T>C (p.Leu24Ser)
|
rs2655655
|
0.84544
|
NM_003322.6(TULP1):c.776T>C (p.Ile259Thr)
|
rs2064317
|
0.36637
|
NM_001122769.3(LCA5):c.1967G>A (p.Gly656Asp)
|
rs1875845
|
0.36167
|
NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser)
|
rs61749665
|
0.29501
|
NM_020366.4(RPGRIP1):c.1639G>T (p.Ala547Ser)
|
rs10151259
|
0.21790
|
NM_000180.4(GUCY2D):c.2345T>A (p.Leu782His)
|
rs8069344
|
0.20071
|
NM_014336.5(AIPL1):c.268G>C (p.Asp90His)
|
rs12449580
|
0.19586
|
NM_000180.4(GUCY2D):c.2576+37G>T
|
rs12103471
|
0.12387
|
NM_000180.4(GUCY2D):c.2101C>T (p.Pro701Ser)
|
rs34598902
|
0.03505
|
NM_020366.4(RPGRIP1):c.1793G>A (p.Arg598Gln)
|
rs74034910
|
0.01504
|
NM_020366.4(RPGRIP1):c.2417C>T (p.Thr806Ile)
|
rs142796310
|
0.01022
|
NM_000554.6(CRX):c.724G>A (p.Val242Met)
|
rs61748459
|
0.00521
|
NM_014336.5(AIPL1):c.401A>T (p.Tyr134Phe)
|
rs16955851
|
0.00404
|
NM_000554.6(CRX):c.196G>A (p.Val66Ile)
|
rs61748438
|
0.00231
|
NM_201253.3(CRB1):c.2506C>A (p.Pro836Thr)
|
rs116471343
|
0.00096
|
NM_201253.3(CRB1):c.3992G>A (p.Arg1331His)
|
rs62636285
|
0.00078
|
NM_014336.5(AIPL1):c.905G>T (p.Arg302Leu)
|
rs62637015
|
0.00067
|
NM_201253.3(CRB1):c.614T>C (p.Ile205Thr)
|
rs62645749
|
0.00049
|
NM_000554.6(CRX):c.425A>G (p.Tyr142Cys)
|
rs61748442
|
0.00032
|
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp)
|
rs61750168
|
0.00019
|
NC_000017.11:g.8002596T>C
|
rs774980016
|
0.00004
|
NM_000180.4(GUCY2D):c.307G>A (p.Glu103Lys)
|
rs61749668
|
0.00004
|
NM_000180.4(GUCY2D):c.935C>T (p.Thr312Met)
|
rs61749673
|
0.00003
|
NM_003322.6(TULP1):c.1082G>A (p.Arg361Gln)
|
rs1313593155
|
0.00003
|
NM_003322.6(TULP1):c.1560C>A (p.Tyr520Ter)
|
rs773968778
|
0.00003
|
NM_000180.4(GUCY2D):c.937C>T (p.Arg313Cys)
|
rs61749674
|
0.00002
|
NM_000180.4(GUCY2D):c.1052A>G (p.Tyr351Cys)
|
rs61749676
|
0.00001
|
NM_000180.4(GUCY2D):c.1561C>T (p.Arg521Ter)
|
rs748798324
|
0.00001
|
NM_000180.4(GUCY2D):c.1633C>T (p.Gln545Ter)
|
rs1290420698
|
0.00001
|
NM_000180.4(GUCY2D):c.1978C>T (p.Arg660Ter)
|
rs61750161
|
0.00001
|
NM_000180.4(GUCY2D):c.2008C>T (p.Arg670Trp)
|
rs931906767
|
0.00001
|
NM_000180.4(GUCY2D):c.2132C>T (p.Pro711Leu)
|
rs765463082
|
0.00001
|
NM_000180.4(GUCY2D):c.2303G>A (p.Arg768Gln)
|
rs750889782
|
0.00001
|
NM_000180.4(GUCY2D):c.2384G>A (p.Arg795Gln)
|
rs61750171
|
0.00001
|
NM_000180.4(GUCY2D):c.2512C>T (p.Arg838Cys)
|
rs61750172
|
0.00001
|
NM_000180.4(GUCY2D):c.2598G>C (p.Lys866Asn)
|
rs201587670
|
0.00001
|
NM_000180.4(GUCY2D):c.2804C>T (p.Ser935Leu)
|
rs1236572248
|
0.00001
|
NM_000180.4(GUCY2D):c.3224+1G>C
|
rs757823463
|
0.00001
|
NM_000180.4(GUCY2D):c.3G>C (p.Met1Ile)
|
rs281865409
|
0.00001
|
NM_000180.4(GUCY2D):c.543G>A (p.Trp181Ter)
|
rs1403798841
|
0.00001
|
NM_000180.4(GUCY2D):c.743C>T (p.Ser248Leu)
|
rs138922415
|
0.00001
|
NM_001122769.3(LCA5):c.955G>A (p.Ala319Thr)
|
rs1178243254
|
0.00001
|
NM_003322.6(TULP1):c.931C>T (p.Arg311Trp)
|
rs373519519
|
0.00001
|
NM_004744.5(LRAT):c.163C>G (p.Arg55Gly)
|
rs527236079
|
0.00001
|
NM_020366.4(RPGRIP1):c.2012G>A (p.Gly671Glu)
|
rs1348186141
|
0.00001
|
NM_020366.4(RPGRIP1):c.800+1G>A
|
rs376500610
|
0.00001
|
NM_020366.4(RPGRIP1):c.800G>A (p.Arg267Gln)
|
rs758239674
|
0.00001
|
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs)
|
rs61749670
|
|
NM_000180.4(GUCY2D):c.1012del (p.Leu338fs)
|
|
|
NM_000180.4(GUCY2D):c.1040_1041del (p.Phe347fs)
|
rs763890649
|
|
NM_000180.4(GUCY2D):c.1211T>C (p.Leu404Pro)
|
rs1975743813
|
|
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.129_134del (p.Leu44_Leu45del)
|
rs552184470
|
|
NM_000180.4(GUCY2D):c.1343C>A (p.Ser448Ter)
|
rs61749679
|
|
NM_000180.4(GUCY2D):c.1378+1G>A
|
rs1975751307
|
|
NM_000180.4(GUCY2D):c.1391del (p.Gly464fs)
|
rs1567958644
|
|
NM_000180.4(GUCY2D):c.144del (p.Ala49fs)
|
rs1567956946
|
|
NM_000180.4(GUCY2D):c.1530del (p.Thr511fs)
|
rs1975768901
|
|
NM_000180.4(GUCY2D):c.1566+2T>C
|
rs61749683
|
|
NM_000180.4(GUCY2D):c.1694T>C (p.Phe565Ser)
|
rs61749755
|
|
NM_000180.4(GUCY2D):c.176_177insCCGGGGT (p.Gly60fs)
|
rs1975665345
|
|
NM_000180.4(GUCY2D):c.1771A>G (p.Asn591Asp)
|
rs1975862803
|
|
NM_000180.4(GUCY2D):c.1773del (p.Asn591fs)
|
rs794727952
|
|
NM_000180.4(GUCY2D):c.1806_1830del (p.Ala604fs)
|
rs63749078
|
|
NM_000180.4(GUCY2D):c.1924T>G (p.Phe642Val)
|
rs1975868246
|
|
NM_000180.4(GUCY2D):c.1937T>C (p.Leu646Pro)
|
rs1975868606
|
|
NM_000180.4(GUCY2D):c.1943T>C (p.Leu648Pro)
|
rs1975868797
|
|
NM_000180.4(GUCY2D):c.1956+2T>A
|
rs61749758
|
|
NM_000180.4(GUCY2D):c.1957-1G>T
|
rs61749759
|
|
NM_000180.4(GUCY2D):c.1957-2A>G
|
rs945734402
|
|
NM_000180.4(GUCY2D):c.1A>G (p.Met1Val)
|
rs1424348888
|
|
NM_000180.4(GUCY2D):c.2006C>G (p.Ser669Ter)
|
rs2151802518
|
|
NM_000180.4(GUCY2D):c.2114-27_2263+18del
|
rs1555635550
|
|
NM_000180.4(GUCY2D):c.2135A>T (p.Glu712Val)
|
rs2151802780
|
|
NM_000180.4(GUCY2D):c.2177_2206del (p.Ala726_Met736delinsVal)
|
rs1975890613
|
|
NM_000180.4(GUCY2D):c.218C>T (p.Pro73Leu)
|
rs750153057
|
|
NM_000180.4(GUCY2D):c.2210AAG[1] (p.Glu738del)
|
|
|
NM_000180.4(GUCY2D):c.2263+2T>C
|
rs1975893449
|
|
NM_000180.4(GUCY2D):c.226_239del (p.Ala76fs)
|
rs281865410
|
|
NM_000180.4(GUCY2D):c.2338T>C (p.Cys780Arg)
|
rs1975909279
|
|
NM_000180.4(GUCY2D):c.2377del (p.Glu793fs)
|
rs1555635668
|
|
NM_000180.4(GUCY2D):c.2393T>G (p.Met798Arg)
|
rs1975911358
|
|
NM_000180.4(GUCY2D):c.2413-1G>C
|
rs1975923246
|
|
NM_000180.4(GUCY2D):c.2512C>G (p.Arg838Gly)
|
rs61750172
|
|
NM_000180.4(GUCY2D):c.2521G>T (p.Glu841Ter)
|
rs1341592819
|
|
NM_000180.4(GUCY2D):c.2531T>C (p.Leu844Pro)
|
rs962715477
|
|
NM_000180.4(GUCY2D):c.2577-2A>C
|
rs1975931968
|
|
NM_000180.4(GUCY2D):c.2627T>C (p.Phe876Ser)
|
rs762981013
|
|
NM_000180.4(GUCY2D):c.2660T>G (p.Val887Gly)
|
rs573270795
|
|
NM_000180.4(GUCY2D):c.2766C>G (p.Tyr922Ter)
|
rs1006935198
|
|
NM_000180.4(GUCY2D):c.2770-1G>C
|
rs1975943461
|
|
NM_000180.4(GUCY2D):c.2770-2A>G
|
rs1975943416
|
|
NM_000180.4(GUCY2D):c.2783G>C (p.Gly928Ala)
|
rs1975943992
|
|
NM_000180.4(GUCY2D):c.2800G>C (p.Ala934Pro)
|
rs61750179
|
|
NM_000180.4(GUCY2D):c.2836G>A (p.Ala946Thr)
|
rs1975945845
|
|
NM_000180.4(GUCY2D):c.2836G>C (p.Ala946Pro)
|
|
|
NM_000180.4(GUCY2D):c.2836G>T (p.Ala946Ser)
|
rs1975945845
|
|
NM_000180.4(GUCY2D):c.2848G>A (p.Ala950Thr)
|
rs1306952187
|
|
NM_000180.4(GUCY2D):c.2849C>T (p.Ala950Val)
|
rs61750181
|
|
NM_000180.4(GUCY2D):c.2872A>C (p.Ser958Arg)
|
rs2151803661
|
|
NM_000180.4(GUCY2D):c.2899del (p.His967fs)
|
rs61750183
|
|
NM_000180.4(GUCY2D):c.2927G>T (p.Arg976Leu)
|
rs61750184
|
|
NM_000180.4(GUCY2D):c.2939A>T (p.His980Leu)
|
rs764954235
|
|
NM_000180.4(GUCY2D):c.2944+1del
|
rs61750185
|
|
NM_000180.4(GUCY2D):c.2952C>A (p.Cys984Ter)
|
|
|
NM_000180.4(GUCY2D):c.2965G>C (p.Val989Leu)
|
rs1248867031
|
|
NM_000180.4(GUCY2D):c.2978del (p.Met993fs)
|
rs1598151437
|
|
NM_000180.4(GUCY2D):c.2983C>T (p.Arg995Trp)
|
rs61750187
|
|
NM_000180.4(GUCY2D):c.2997del (p.Phe999fs)
|
rs1975957618
|
|
NM_000180.4(GUCY2D):c.2T>A (p.Met1Lys)
|
rs281865408
|
|
NM_000180.4(GUCY2D):c.3025A>T (p.Met1009Leu)
|
rs61750188
|
|
NM_000180.4(GUCY2D):c.3037G>A (p.Gly1013Arg)
|
rs868612148
|
|
NM_000180.4(GUCY2D):c.3043+4A>T
|
rs61750189
|
|
NM_000180.4(GUCY2D):c.3043+5G>A
|
rs751822337
|
|
NM_000180.4(GUCY2D):c.3056A>C (p.His1019Pro)
|
rs1429807175
|
|
NM_000180.4(GUCY2D):c.3078_3079del (p.Ile1027fs)
|
rs281865411
|
|
NM_000180.4(GUCY2D):c.3118C>T (p.Arg1040Ter)
|
rs61750194
|
|
NM_000180.4(GUCY2D):c.315C>A (p.Cys105Ter)
|
rs2151799357
|
|
NM_000180.4(GUCY2D):c.3163T>G (p.Trp1055Gly)
|
rs1975971228
|
|
NM_000180.4(GUCY2D):c.3219dup (p.Pro1074fs)
|
rs1374426388
|
|
NM_000180.4(GUCY2D):c.3224+3G>T
|
rs1258995063
|
|
NM_000180.4(GUCY2D):c.3233_3236dup (p.His1079fs)
|
rs386834239
|
|
NM_000180.4(GUCY2D):c.387C>A (p.Asn129Lys)
|
rs63340060
|
|
NM_000180.4(GUCY2D):c.3G>A (p.Met1Ile)
|
rs281865409
|
|
NM_000180.4(GUCY2D):c.501del (p.Ala168fs)
|
rs1975675766
|
|
NM_000180.4(GUCY2D):c.52_99dup (p.Gly18_Leu33dup)
|
rs63749076
|
|
NM_000180.4(GUCY2D):c.562_565dup (p.Ala189fs)
|
rs1975678842
|
|
NM_000180.4(GUCY2D):c.571C>T (p.Gln191Ter)
|
rs768390959
|
|
NM_000180.4(GUCY2D):c.571dup (p.Gln191fs)
|
|
|
NM_000180.4(GUCY2D):c.596G>C (p.Arg199Pro)
|
rs1370721862
|
|
NM_000180.4(GUCY2D):c.622del (p.Arg208fs)
|
rs61749671
|
|
NM_000180.4(GUCY2D):c.690_693del (p.Lys232fs)
|
rs2151799567
|
|
NM_000180.4(GUCY2D):c.725T>G (p.Val242Gly)
|
rs1975686657
|
|
NM_000180.4(GUCY2D):c.740A>G (p.His247Arg)
|
rs768206746
|
|
NM_000180.4(GUCY2D):c.826del (p.Leu276fs)
|
rs2151799674
|
|
NM_000180.4(GUCY2D):c.835G>A (p.Asp279Asn)
|
rs1478566225
|
|
NM_000180.4(GUCY2D):c.91dup (p.Arg31fs)
|
rs61749663
|
|
NM_000180.4(GUCY2D):c.929C>A (p.Thr310Asn)
|
rs1975693830
|
|
NM_000180.4(GUCY2D):c.997G>T (p.Glu333Ter)
|
rs755999834
|
|
NM_000554.6(CRX):c.480_481del (p.Ser161fs)
|
rs1599991538
|
|
NM_000554.6(CRX):c.500_501del (p.Ala166_Ser167insTer)
|
rs1599991611
|
|
NM_003322.6(TULP1):c.1388del (p.Asn463fs)
|
rs1581736024
|
|
NM_003322.6(TULP1):c.524dup (p.Pro176fs)
|
rs1327062642
|
|
NM_004744.5(LRAT):c.298G>A (p.Gly100Ser)
|
rs1035206645
|
|
NM_004744.5(LRAT):c.346T>C (p.Phe116Leu)
|
rs1578860322
|
|
NM_006017.3(PROM1):c.139del (p.His47fs)
|
rs747512450
|
|
NM_006017.3(PROM1):c.1877_1878del (p.Ile626fs)
|
rs1300041533
|
|
NM_006269.2(RP1):c.1267_1656delinsA (p.Ala423fs)
|
rs1554519422
|
|
NM_020366.4(RPGRIP1):c.2468A>G (p.Tyr823Cys)
|
rs751521888
|
|
NM_020366.4(RPGRIP1):c.2759_2760insT (p.Gln920fs)
|
rs61751270
|
|
NM_020366.4(RPGRIP1):c.2941C>T (p.Arg981Ter)
|
rs780667159
|
|
NM_201253.3(CRB1):c.1313G>A (p.Cys438Tyr)
|
rs1571522690
|
|
NM_201253.3(CRB1):c.1455_1458dup (p.Ser487fs)
|
rs1571523319
|
|
NM_201253.3(CRB1):c.1633T>C (p.Ser545Pro)
|
rs1571524102
|
|
NM_201253.3(CRB1):c.1843G>A (p.Gly615Ser)
|
rs1571525145
|
|
NM_201253.3(CRB1):c.2533_2539del (p.Gly845fs)
|
rs745348555
|
|
NM_201253.3(CRB1):c.275_276insT (p.Arg92fs)
|
rs1571848132
|
|
NM_201253.3(CRB1):c.281_282del (p.Phe94fs)
|
rs1571848166
|
|
NM_201253.3(CRB1):c.2842T>C (p.Cys948Arg)
|
rs62645747
|
|
NM_201253.3(CRB1):c.287G>A (p.Cys96Tyr)
|
rs1571848190
|
|
NM_201253.3(CRB1):c.289_294del (p.Lys97_Cys98del)
|
rs1571848216
|
|
NM_201253.3(CRB1):c.3462_3463del (p.Cys1154_Glu1155delinsTer)
|
rs1571557864
|
|
NM_201253.3(CRB1):c.3653G>A (p.Cys1218Tyr)
|
rs1450635782
|
|
NM_201253.3(CRB1):c.3961T>G (p.Cys1321Gly)
|
rs62635649
|
|
NM_201253.3(CRB1):c.488G>T (p.Cys163Phe)
|
rs1571848855
|
|
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del)
|
rs398124615
|
|
NM_201253.3(CRB1):c.613_619del (p.Ile205fs)
|
rs62645752
|
|
NM_201253.3(CRB1):c.984G>A (p.Trp328Ter)
|
rs1571878277
|
|