NM_000554.6(CRX):c.*436G>T
|
rs759530877
|
0.01473
|
NM_000554.6(CRX):c.*756T>A
|
rs886054553
|
0.00270
|
NM_000554.6(CRX):c.*839C>T
|
rs541379131
|
0.00239
|
NM_000322.5(PRPH2):c.-60C>T
|
rs144011444
|
0.00211
|
NM_001256789.3(CACNA1F):c.2204A>C (p.Asn735Thr)
|
rs141159097
|
0.00176
|
NM_000554.6(CRX):c.*683G>A
|
rs867379668
|
0.00149
|
NM_000554.6(CRX):c.*727C>T
|
rs1360823353
|
0.00103
|
NM_000322.5(PRPH2):c.*351G>A
|
rs551934443
|
0.00075
|
NM_000554.6(CRX):c.*2113A>G
|
rs555800382
|
0.00065
|
NM_000322.5(PRPH2):c.*1408G>C
|
rs573667549
|
0.00050
|
NM_000554.6(CRX):c.*392G>A
|
rs886054550
|
0.00043
|
NM_000322.5(PRPH2):c.*592A>T
|
rs573416213
|
0.00042
|
NM_000554.6(CRX):c.*2821G>A
|
rs571610746
|
0.00041
|
NM_000554.6(CRX):c.-46C>T
|
rs755040084
|
0.00022
|
NM_000554.6(CRX):c.778G>A (p.Ala260Thr)
|
rs370592248
|
0.00021
|
NM_000322.5(PRPH2):c.*661G>A
|
rs753202254
|
0.00020
|
NM_000554.6(CRX):c.203C>T (p.Ala68Val)
|
rs145649717
|
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_000554.6(CRX):c.*205G>A
|
rs995250251
|
0.00018
|
NM_005148.4(UNC119):c.*287T>G
|
rs746762474
|
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_000554.6(CRX):c.*1759G>T
|
rs886054558
|
0.00017
|
NM_005148.4(UNC119):c.169A>T (p.Lys57Ter)
|
rs267607166
|
0.00017
|
NM_000554.6(CRX):c.*2404C>T
|
rs544403161
|
0.00016
|
NM_000554.6(CRX):c.*907C>T
|
rs559582292
|
0.00015
|
NM_000554.6(CRX):c.*746T>C
|
rs886054552
|
0.00014
|
NM_000554.6(CRX):c.*2402G>T
|
rs901623400
|
0.00012
|
NM_000554.6(CRX):c.765C>T (p.Gly255=)
|
rs145913500
|
0.00012
|
NM_005148.4(UNC119):c.-34G>T
|
rs550443043
|
0.00011
|
NM_000554.6(CRX):c.*809C>G
|
rs574128797
|
0.00010
|
NM_005148.4(UNC119):c.626G>A (p.Arg209His)
|
rs375147970
|
0.00010
|
NM_000322.5(PRPH2):c.*350C>T
|
rs769850707
|
0.00009
|
NM_000322.5(PRPH2):c.*743G>A
|
rs941727712
|
0.00009
|
NM_000554.6(CRX):c.790G>A (p.Val264Met)
|
rs138146799
|
0.00009
|
NM_000322.5(PRPH2):c.*626A>G
|
rs1383185417
|
0.00008
|
NM_000554.6(CRX):c.*2343G>A
|
rs928747077
|
0.00008
|
NM_005148.4(UNC119):c.*265G>A
|
rs886052764
|
0.00008
|
NM_005148.4(UNC119):c.*378G>A
|
rs1005163473
|
0.00008
|
NM_000554.6(CRX):c.565G>A (p.Ala189Thr)
|
rs142111462
|
0.00007
|
NM_000554.6(CRX):c.590C>T (p.Pro197Leu)
|
rs761290111
|
0.00006
|
NM_005148.4(UNC119):c.-44A>G
|
rs886052767
|
0.00006
|
NM_005148.4(UNC119):c.321G>A (p.Lys107=)
|
rs543041170
|
0.00006
|
NM_145698.5(ACBD5):c.407T>C (p.Val136Ala)
|
rs573943806
|
0.00006
|
NM_000322.5(PRPH2):c.888C>T (p.Pro296=)
|
rs183714869
|
0.00005
|
NM_000554.6(CRX):c.*2357G>A
|
rs1053302157
|
0.00005
|
NM_000554.6(CRX):c.*498G>A
|
rs1004933827
|
0.00005
|
NM_000554.6(CRX):c.344G>A (p.Arg115Gln)
|
rs750727986
|
0.00005
|
NM_000554.6(CRX):c.606C>T (p.Cys202=)
|
rs764877352
|
0.00005
|
NM_000322.5(PRPH2):c.*417A>T
|
rs531859483
|
0.00004
|
NM_000322.5(PRPH2):c.*917G>A
|
rs185036139
|
0.00004
|
NM_000350.3(ABCA4):c.5560G>T (p.Val1854Leu)
|
rs374687000
|
0.00004
|
NM_000554.6(CRX):c.*2589T>C
|
rs530478127
|
0.00004
|
NM_000554.6(CRX):c.332A>G (p.Gln111Arg)
|
rs760741667
|
0.00004
|
NM_000554.6(CRX):c.335C>T (p.Ala112Val)
|
rs61748439
|
0.00004
|
NM_000554.6(CRX):c.491G>A (p.Ser164Asn)
|
rs1039194669
|
0.00004
|
NM_000554.6(CRX):c.619G>A (p.Ala207Thr)
|
rs376982187
|
0.00004
|
NM_000554.6(CRX):c.818C>T (p.Thr273Met)
|
rs281865203
|
0.00004
|
NM_000554.6(CRX):c.83A>G (p.Gln28Arg)
|
rs781577708
|
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.380A>G (p.Glu127Gly)
|
rs543703718
|
0.00003
|
NM_000554.6(CRX):c.*132G>A
|
rs886054548
|
0.00003
|
NM_000554.6(CRX):c.*2573C>T
|
rs886054559
|
0.00003
|
NM_000554.6(CRX):c.*2889G>A
|
rs886054561
|
0.00003
|
NM_000554.6(CRX):c.460A>G (p.Thr154Ala)
|
rs763651232
|
0.00003
|
NM_000554.6(CRX):c.464C>T (p.Thr155Met)
|
rs753466818
|
0.00003
|
NM_000554.6(CRX):c.649G>A (p.Gly217Ser)
|
rs146869548
|
0.00003
|
NM_000322.5(PRPH2):c.801C>T (p.Val267=)
|
rs189358082
|
0.00002
|
NM_000322.5(PRPH2):c.937C>T (p.Pro313Ser)
|
rs746742888
|
0.00002
|
NM_000554.6(CRX):c.*2485C>T
|
rs564202140
|
0.00002
|
NM_000554.6(CRX):c.*2611G>A
|
rs1329072003
|
0.00002
|
NM_000554.6(CRX):c.485T>C (p.Ile162Thr)
|
rs745628043
|
0.00002
|
NM_000554.6(CRX):c.487T>C (p.Trp163Arg)
|
rs779912365
|
0.00002
|
NM_000554.6(CRX):c.513G>C (p.Leu171Phe)
|
rs773154643
|
0.00002
|
NM_000554.6(CRX):c.521C>T (p.Ala174Val)
|
rs771028537
|
0.00002
|
NM_005148.4(UNC119):c.39G>A (p.Ala13=)
|
rs749427491
|
0.00002
|
NM_005148.4(UNC119):c.526G>A (p.Asp176Asn)
|
rs772710984
|
0.00002
|
NM_206933.4(USH2A):c.10613G>A (p.Arg3538Gln)
|
rs774844491
|
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_000554.6(CRX):c.*252C>T
|
rs886054549
|
0.00001
|
NM_000554.6(CRX):c.*2544G>A
|
rs1281739542
|
0.00001
|
NM_000554.6(CRX):c.*2785C>T
|
rs886054560
|
0.00001
|
NM_000554.6(CRX):c.*79C>T
|
rs769100863
|
0.00001
|
NM_000554.6(CRX):c.*908G>A
|
rs886054554
|
0.00001
|
NM_000554.6(CRX):c.11A>G (p.Tyr4Cys)
|
rs1211313175
|
0.00001
|
NM_000554.6(CRX):c.140C>T (p.Thr47Ile)
|
rs1203670123
|
0.00001
|
NM_000554.6(CRX):c.142C>T (p.Arg48Trp)
|
rs761797993
|
0.00001
|
NM_000554.6(CRX):c.205C>T (p.Arg69Cys)
|
rs771551785
|
0.00001
|
NM_000554.6(CRX):c.20C>T (p.Pro7Leu)
|
rs558522333
|
0.00001
|
NM_000554.6(CRX):c.225G>T (p.Lys75Asn)
|
rs1568624864
|
0.00001
|
NM_000554.6(CRX):c.253-7C>G
|
rs754128724
|
0.00001
|
NM_000554.6(CRX):c.269G>A (p.Arg90Gln)
|
rs1209634994
|
0.00001
|
NM_000554.6(CRX):c.343C>T (p.Arg115Trp)
|
rs1056691132
|
0.00001
|
NM_000554.6(CRX):c.412A>G (p.Ile138Val)
|
rs373934471
|
0.00001
|
NM_000554.6(CRX):c.433C>T (p.Pro145Ser)
|
rs149300196
|
0.00001
|
NM_000554.6(CRX):c.439C>T (p.Pro147Ser)
|
rs1173779531
|
0.00001
|
NM_000554.6(CRX):c.43G>A (p.Ala15Thr)
|
rs559181643
|
0.00001
|
NM_000554.6(CRX):c.43G>C (p.Ala15Pro)
|
rs559181643
|
0.00001
|
NM_000554.6(CRX):c.526C>G (p.Arg176Gly)
|
rs543243551
|
0.00001
|
NM_000554.6(CRX):c.560C>T (p.Thr187Ile)
|
rs758125850
|
0.00001
|
NM_000554.6(CRX):c.632C>T (p.Pro211Leu)
|
rs559042370
|
0.00001
|
NM_000554.6(CRX):c.673A>C (p.Met225Leu)
|
rs765976845
|
0.00001
|
NM_000554.6(CRX):c.688G>C (p.Gly230Arg)
|
rs1461832129
|
0.00001
|
NM_000554.6(CRX):c.740C>T (p.Ala247Val)
|
rs1196719242
|
0.00001
|
NM_000554.6(CRX):c.78G>A (p.Met26Ile)
|
rs886054544
|
0.00001
|
NM_000554.6(CRX):c.806_809dup (p.Lys270fs)
|
rs1968173706
|
0.00001
|
NM_000554.6(CRX):c.8C>T (p.Ala3Val)
|
rs762715327
|
0.00001
|
NM_005148.4(UNC119):c.419T>G (p.Leu140Arg)
|
rs199705690
|
0.00001
|
NM_005148.4(UNC119):c.47C>T (p.Ser16Phe)
|
rs756038571
|
0.00001
|
NM_206933.4(USH2A):c.8842C>T (p.Pro2948Ser)
|
rs142315587
|
0.00001
|
GRCh38/hg38 19q13.32-13.33(chr19:47257435-47886413)x1
|
|
|
GRCh38/hg38 19q13.33(chr19:47794370-47886413)x1
|
|
|
GRCh38/hg38 19q13.33(chr19:47834312-47840923)x1
|
|
|
NC_000019.10:g.(?_47801775)_(47886257_?)del
|
|
|
NC_000019.10:g.(?_47818438)_(47886257_?)del
|
|
|
NC_000019.10:g.(?_47834444)_(47836394_?)del
|
|
|
NC_000019.10:g.(?_47839300)_(47839987_?)del
|
|
|
NC_000019.10:g.(?_47839320)_(47839967_?)del
|
|
|
NC_000019.9:g.(?_48337701)_(48337820_?)del
|
|
|
NC_000019.9:g.(?_48337701)_(48339671_?)dup
|
|
|
NC_000019.9:g.(?_48342557)_(48343224_?)dup
|
|
|
NM_000180.4(GUCY2D):c.2705T>C (p.Val902Ala)
|
rs1975935914
|
|
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.-116C>G
|
rs886061406
|
|
NM_000322.5(PRPH2):c.1024G>T (p.Ala342Ser)
|
rs1799983757
|
|
NM_000322.5(PRPH2):c.484G>A (p.Glu162Lys)
|
rs769939935
|
|
NM_000322.5(PRPH2):c.521G>C (p.Trp174Ser)
|
rs1761906296
|
|
NM_000322.5(PRPH2):c.92G>T (p.Gly31Val)
|
rs886061404
|
|
NM_000322.5(PRPH2):c.995T>A (p.Val332Glu)
|
rs1582759492
|
|
NM_000329.3(RPE65):c.433G>C (p.Ala145Pro)
|
rs767528365
|
|
NM_000350.3(ABCA4):c.4340A>T (p.Glu1447Val)
|
rs2101034896
|
|
NM_000554.6(CRX):c.*110C>A
|
rs1968176550
|
|
NM_000554.6(CRX):c.*1149G>A
|
rs886054555
|
|
NM_000554.6(CRX):c.*1223A>G
|
rs1968192567
|
|
NM_000554.6(CRX):c.*1309T>C
|
rs886054556
|
|
NM_000554.6(CRX):c.*1330C>T
|
rs1049141176
|
|
NM_000554.6(CRX):c.*2225A>G
|
rs1968205705
|
|
NM_000554.6(CRX):c.*234G>A
|
rs754333326
|
|
NM_000554.6(CRX):c.*2580G>A
|
rs1968211334
|
|
NM_000554.6(CRX):c.*272T>C
|
rs1286758532
|
|
NM_000554.6(CRX):c.*2850G>A
|
rs769789306
|
|
NM_000554.6(CRX):c.*2935G>T
|
rs1968215891
|
|
NM_000554.6(CRX):c.*2952G>A
|
rs886054562
|
|
NM_000554.6(CRX):c.*2979T>C
|
rs1968216535
|
|
NM_000554.6(CRX):c.*3077C>G
|
rs965939233
|
|
NM_000554.6(CRX):c.*3099C>T
|
rs1968218106
|
|
NM_000554.6(CRX):c.-55C>T
|
rs886054543
|
|
NM_000554.6(CRX):c.100+3G>C
|
rs1568624171
|
|
NM_000554.6(CRX):c.100+5G>A
|
|
|
NM_000554.6(CRX):c.105C>A (p.Ala35=)
|
rs886054545
|
|
NM_000554.6(CRX):c.106C>T (p.Pro36Ser)
|
|
|
NM_000554.6(CRX):c.108del (p.Arg37fs)
|
rs2123739840
|
|
NM_000554.6(CRX):c.119G>C (p.Arg40Pro)
|
|
|
NM_000554.6(CRX):c.125_128dup (p.Thr44fs)
|
rs2123739871
|
|
NM_000554.6(CRX):c.127C>A (p.Arg43Ser)
|
rs1437021651
|
|
NM_000554.6(CRX):c.128G>T (p.Arg43Leu)
|
rs771736389
|
|
NM_000554.6(CRX):c.133A>G (p.Thr45Ala)
|
|
|
NM_000554.6(CRX):c.143G>A (p.Arg48Gln)
|
|
|
NM_000554.6(CRX):c.176_177del (p.Ala59fs)
|
rs2123739943
|
|
NM_000554.6(CRX):c.182C>T (p.Thr61Ile)
|
rs1599985527
|
|
NM_000554.6(CRX):c.196G>T (p.Val66Phe)
|
rs61748438
|
|
NM_000554.6(CRX):c.205C>G (p.Arg69Gly)
|
|
|
NM_000554.6(CRX):c.211G>A (p.Glu71Lys)
|
|
|
NM_000554.6(CRX):c.226A>T (p.Ile76Phe)
|
rs2123740000
|
|
NM_000554.6(CRX):c.253-1G>T
|
|
|
NM_000554.6(CRX):c.258G>C (p.Trp86Cys)
|
rs1968160766
|
|
NM_000554.6(CRX):c.25C>T (p.Pro9Ser)
|
rs2123738269
|
|
NM_000554.6(CRX):c.262A>G (p.Lys88Glu)
|
rs1968160874
|
|
NM_000554.6(CRX):c.263A>G (p.Lys88Arg)
|
rs1001151383
|
|
NM_000554.6(CRX):c.274G>A (p.Ala92Thr)
|
rs786205521
|
|
NM_000554.6(CRX):c.274G>C (p.Ala92Pro)
|
rs786205521
|
|
NM_000554.6(CRX):c.281G>A (p.Cys94Tyr)
|
|
|
NM_000554.6(CRX):c.319C>G (p.Pro107Ala)
|
|
|
NM_000554.6(CRX):c.323del (p.Pro108fs)
|
rs1968162287
|
|
NM_000554.6(CRX):c.324del (p.Gly110fs)
|
rs2123742895
|
|
NM_000554.6(CRX):c.349G>A (p.Ala117Thr)
|
rs1599991109
|
|
NM_000554.6(CRX):c.362C>T (p.Ala121Val)
|
|
|
NM_000554.6(CRX):c.365del (p.Gly122fs)
|
rs1968163226
|
|
NM_000554.6(CRX):c.377G>A (p.Arg126Lys)
|
rs1299569341
|
|
NM_000554.6(CRX):c.37G>C (p.Val13Leu)
|
|
|
NM_000554.6(CRX):c.380C>T (p.Pro127Leu)
|
|
|
NM_000554.6(CRX):c.381del (p.Ser128fs)
|
rs1599991268
|
|
NM_000554.6(CRX):c.400G>A (p.Asp134Asn)
|
rs1968164288
|
|
NM_000554.6(CRX):c.404C>G (p.Pro135Arg)
|
rs2123743010
|
|
NM_000554.6(CRX):c.407_416dup (p.Asp140fs)
|
rs1968164438
|
|
NM_000554.6(CRX):c.415T>G (p.Ser139Ala)
|
rs373281561
|
|
NM_000554.6(CRX):c.426C>A (p.Tyr142Ter)
|
rs1968164899
|
|
NM_000554.6(CRX):c.42C>A (p.Asn14Lys)
|
rs774344094
|
|
NM_000554.6(CRX):c.435del (p.Leu146fs)
|
rs1968165217
|
|
NM_000554.6(CRX):c.442G>C (p.Gly148Arg)
|
rs760080266
|
|
NM_000554.6(CRX):c.484A>C (p.Ile162Leu)
|
|
|
NM_000554.6(CRX):c.488G>A (p.Trp163Ter)
|
|
|
NM_000554.6(CRX):c.494del (p.Pro165fs)
|
rs2123743155
|
|
NM_000554.6(CRX):c.497C>A (p.Ala166Asp)
|
|
|
NM_000554.6(CRX):c.501del (p.Glu168fs)
|
rs2123743175
|
|
NM_000554.6(CRX):c.509del (p.Pro170fs)
|
rs2123743184
|
|
NM_000554.6(CRX):c.526C>T (p.Arg176Trp)
|
rs543243551
|
|
NM_000554.6(CRX):c.527G>A (p.Arg176Gln)
|
|
|
NM_000554.6(CRX):c.529del (p.Ala177fs)
|
rs61748449
|
|
NM_000554.6(CRX):c.532G>C (p.Gly178Arg)
|
|
|
NM_000554.6(CRX):c.533G>C (p.Gly178Ala)
|
rs926713896
|
|
NM_000554.6(CRX):c.541_542del (p.Ala181fs)
|
|
|
NM_000554.6(CRX):c.557del (p.Leu186fs)
|
|
|
NM_000554.6(CRX):c.565G>C (p.Ala189Pro)
|
rs142111462
|
|
NM_000554.6(CRX):c.566C>T (p.Ala189Val)
|
|
|
NM_000554.6(CRX):c.575C>A (p.Ala192Asp)
|
|
|
NM_000554.6(CRX):c.578T>A (p.Met193Lys)
|
rs771206912
|
|
NM_000554.6(CRX):c.581C>A (p.Thr194Asn)
|
rs774657041
|
|
NM_000554.6(CRX):c.586G>T (p.Ala196Ser)
|
|
|
NM_000554.6(CRX):c.587C>T (p.Ala196Val)
|
rs1372852556
|
|
NM_000554.6(CRX):c.591_594dup (p.Ser199fs)
|
|
|
NM_000554.6(CRX):c.592del (p.Ala198fs)
|
rs1968169272
|
|
NM_000554.6(CRX):c.593C>T (p.Ala198Val)
|
rs776232503
|
|
NM_000554.6(CRX):c.594_606del (p.Ser199fs)
|
rs1968169319
|
|
NM_000554.6(CRX):c.597del (p.Ala200fs)
|
rs2123743359
|
|
NM_000554.6(CRX):c.598G>A (p.Ala200Thr)
|
|
|
NM_000554.6(CRX):c.605del (p.Cys202fs)
|
rs878853383
|
|
NM_000554.6(CRX):c.60C>G (p.Gly20=)
|
rs769017861
|
|
NM_000554.6(CRX):c.616T>C (p.Ser206Pro)
|
rs1193377720
|
|
NM_000554.6(CRX):c.626G>A (p.Gly209Glu)
|
rs1968170166
|
|
NM_000554.6(CRX):c.628T>G (p.Ser210Ala)
|
|
|
NM_000554.6(CRX):c.651C>T (p.Gly217=)
|
rs1968170615
|
|
NM_000554.6(CRX):c.658C>A (p.Pro220Thr)
|
|
|
NM_000554.6(CRX):c.660del (p.Tyr221fs)
|
rs864309707
|
|
NM_000554.6(CRX):c.660dup (p.Tyr221fs)
|
rs864309707
|
|
NM_000554.6(CRX):c.673A>G (p.Met225Val)
|
|
|
NM_000554.6(CRX):c.675G>C (p.Met225Ile)
|
|
|
NM_000554.6(CRX):c.684G>C (p.Gln228His)
|
rs756105390
|
|
NM_000554.6(CRX):c.684_685delinsAA (p.Leu229Ile)
|
rs1968171338
|
|
NM_000554.6(CRX):c.695C>T (p.Pro232Leu)
|
|
|
NM_000554.6(CRX):c.702T>C (p.Leu234=)
|
rs992252014
|
|
NM_000554.6(CRX):c.709C>A (p.Leu237Ile)
|
|
|
NM_000554.6(CRX):c.713C>A (p.Ser238Tyr)
|
rs1968172066
|
|
NM_000554.6(CRX):c.717C>A (p.Gly239=)
|
rs886054546
|
|
NM_000554.6(CRX):c.719C>T (p.Pro240Leu)
|
|
|
NM_000554.6(CRX):c.728dup (p.Pro244fs)
|
rs1968172289
|
|
NM_000554.6(CRX):c.740C>A (p.Ala247Asp)
|
|
|
NM_000554.6(CRX):c.750del (p.Thr251fs)
|
rs2123743577
|
|
NM_000554.6(CRX):c.753del (p.Ser252fs)
|
rs61749660
|
|
NM_000554.6(CRX):c.755C>T (p.Ser252Phe)
|
|
|
NM_000554.6(CRX):c.773A>G (p.Tyr258Cys)
|
|
|
NM_000554.6(CRX):c.783C>G (p.Tyr261Ter)
|
rs2123743638
|
|
NM_000554.6(CRX):c.784A>G (p.Ser262Gly)
|
|
|
NM_000554.6(CRX):c.790G>T (p.Val264Leu)
|
rs138146799
|
|
NM_000554.6(CRX):c.793G>T (p.Asp265Tyr)
|
rs751790087
|
|
NM_000554.6(CRX):c.794A>T (p.Asp265Val)
|
rs2123743660
|
|
NM_000554.6(CRX):c.798del (p.Leu267fs)
|
rs2123743667
|
|
NM_000554.6(CRX):c.799T>G (p.Leu267Val)
|
|
|
NM_000554.6(CRX):c.806T>A (p.Phe269Tyr)
|
rs2123743672
|
|
NM_000554.6(CRX):c.834C>A (p.Phe278Leu)
|
|
|
NM_000554.6(CRX):c.841A>G (p.Asn281Asp)
|
rs2123743725
|
|
NM_000554.6(CRX):c.844C>T (p.Pro282Ser)
|
|
|
NM_000554.6(CRX):c.857T>C (p.Leu286Pro)
|
rs886054547
|
|
NM_000554.6(CRX):c.85G>A (p.Ala29Thr)
|
|
|
NM_000554.6(CRX):c.863A>G (p.Tyr288Cys)
|
|
|
NM_000554.6(CRX):c.871C>T (p.Gln291Ter)
|
rs2123743754
|
|
NM_000554.6(CRX):c.873G>T (p.Gln291His)
|
rs1968174829
|
|
NM_000554.6(CRX):c.893T>A (p.Ile298Asn)
|
rs2123743769
|
|
NM_000554.6(CRX):c.89T>A (p.Val30Glu)
|
|
|
NM_001278293.3(ARL6):c.482C>T (p.Ala161Val)
|
rs1188627299
|
|
NM_001371596.2(MFSD8):c.1445G>C (p.Arg482Pro)
|
|
|
NM_004928.3(CFAP410):c.140T>C (p.Leu47Pro)
|
|
|
NM_005148.4(UNC119):c.*115G>A
|
rs1040198223
|
|
NM_005148.4(UNC119):c.*181G>A
|
rs898936208
|
|
NM_005148.4(UNC119):c.*78C>T
|
rs558661546
|
|
NM_005148.4(UNC119):c.-38C>T
|
rs886052766
|
|
NM_005148.4(UNC119):c.262T>C (p.Phe88Leu)
|
rs886052765
|
|
NM_005148.4(UNC119):c.689A>G (p.Asn230Ser)
|
rs2070217294
|
|
NM_130837.3(OPA1):c.1361T>C (p.Leu454Ser)
|
|
|
NM_145698.5(ACBD5):c.1446del (p.Thr483fs)
|
rs1564578483
|
|
NM_201253.3(CRB1):c.1838_1840dup (p.Leu613_Gly614insVal)
|
rs2125471114
|
|
NM_201253.3(CRB1):c.2980A>G (p.Lys994Glu)
|
rs2125499116
|
|