ClinVar Miner

List of variants reported as uncertain significance for retinal disorder by Genome-Nilou Lab

Included ClinVar conditions (500):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 912
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HGVS dbSNP gnomAD frequency
NM_001142800.2(EYS):c.5629C>T (p.Arg1877Trp) rs139822086 0.00273
NM_206933.4(USH2A):c.3123C>A (p.His1041Gln) rs149304901 0.00187
NM_025099.6(CTC1):c.13C>T (p.Arg5Trp) rs201280372 0.00140
NM_025099.6(CTC1):c.3604C>T (p.Arg1202Ter) rs147714487 0.00118
NM_020366.4(RPGRIP1):c.808A>G (p.Ile270Val) rs372615343 0.00084
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly) rs41302239 0.00081
NM_020366.4(RPGRIP1):c.2644C>T (p.Pro882Ser) rs200657688 0.00077
NM_022367.4(SEMA4A):c.1451G>C (p.Gly484Ala) rs148744804 0.00062
NM_206933.4(USH2A):c.1961T>C (p.Leu654Pro) rs1321779316 0.00056
NM_020366.4(RPGRIP1):c.3358A>G (p.Ile1120Val) rs137853911 0.00051
NM_025099.6(CTC1):c.2522G>A (p.Arg841His) rs780358670 0.00049
NM_206933.4(USH2A):c.11927C>T (p.Thr3976Met) rs142381713 0.00049
NM_025099.6(CTC1):c.2192G>A (p.Arg731Gln) rs201891953 0.00048
NM_031935.3(HMCN1):c.13868G>A (p.Arg4623Gln) rs145398864 0.00046
NM_201253.3(CRB1):c.2746C>T (p.Leu916Phe) rs140648074 0.00044
NM_206933.4(USH2A):c.11815G>A (p.Glu3939Lys) rs146264950 0.00043
NM_000186.4(CFH):c.1825G>A (p.Val609Ile) rs148165372 0.00042
NM_206933.4(USH2A):c.7595A>C (p.Lys2532Thr) rs112273610 0.00039
NM_031935.3(HMCN1):c.5923A>G (p.Ile1975Val) rs145889775 0.00038
NM_000186.4(CFH):c.1111C>A (p.His371Asn) rs145650378 0.00036
NM_001142800.2(EYS):c.3586T>C (p.Cys1196Arg) rs374409854 0.00036
NM_031935.3(HMCN1):c.9929T>C (p.Leu3310Pro) rs148265876 0.00036
NM_025099.6(CTC1):c.2803C>T (p.Leu935Phe) rs542477730 0.00035
NM_201253.3(CRB1):c.135C>G (p.Cys45Trp) rs145141811 0.00035
NM_031935.3(HMCN1):c.14927G>A (p.Arg4976Gln) rs201563661 0.00033
NM_000186.4(CFH):c.2171C>A (p.Thr724Lys) rs142902005 0.00032
NM_020366.4(RPGRIP1):c.2665G>A (p.Ala889Thr) rs184926375 0.00031
NM_025099.6(CTC1):c.1207-4C>T rs369904656 0.00031
NM_031935.3(HMCN1):c.3740C>T (p.Ala1247Val) rs145595000 0.00031
NM_206933.4(USH2A):c.14519T>C (p.Leu4840Pro) rs143275144 0.00031
NM_020366.4(RPGRIP1):c.376G>C (p.Gly126Arg) rs375226924 0.00030
NM_031935.3(HMCN1):c.959G>A (p.Arg320Gln) rs140296295 0.00030
NM_000186.4(CFH):c.3079G>C (p.Ala1027Pro) rs373385518 0.00026
NM_000186.4(CFH):c.3226C>G (p.Gln1076Glu) rs62625015 0.00025
NM_206933.4(USH2A):c.10490A>G (p.Asp3497Gly) rs146569216 0.00025
NM_025099.6(CTC1):c.2506T>C (p.Ser836Pro) rs62637612 0.00024
NM_025099.6(CTC1):c.34-9T>G rs201195157 0.00024
NM_025099.6(CTC1):c.862G>A (p.Val288Met) rs201553464 0.00024
NM_001142800.2(EYS):c.2971C>T (p.Leu991Phe) rs201819948 0.00023
NM_020366.4(RPGRIP1):c.2075A>G (p.His692Arg) rs200401966 0.00023
NM_201253.3(CRB1):c.1450A>G (p.Thr484Ala) rs144029476 0.00022
NM_206933.4(USH2A):c.7717C>T (p.Arg2573Cys) rs140983855 0.00022
NM_206933.4(USH2A):c.8609C>T (p.Pro2870Leu) rs200802261 0.00022
NM_020366.4(RPGRIP1):c.3505G>C (p.Glu1169Gln) rs201191634 0.00021
NM_000186.4(CFH):c.1198C>A (p.Gln400Lys) rs201671665 0.00019
NM_201253.3(CRB1):c.2462C>T (p.Thr821Met) rs142857810 0.00019
NM_201253.3(CRB1):c.4060G>A (p.Ala1354Thr) rs200469148 0.00019
NM_031935.3(HMCN1):c.12649A>G (p.Thr4217Ala) rs138440972 0.00018
NM_206933.4(USH2A):c.5179C>T (p.Leu1727Phe) rs368058316 0.00018
NM_000186.4(CFH):c.2675C>T (p.Ala892Val) rs151068461 0.00017
NM_031935.3(HMCN1):c.4382A>G (p.Asn1461Ser) rs376910631 0.00017
NM_031935.3(HMCN1):c.8346G>C (p.Arg2782Ser) rs199920138 0.00017
NM_020366.4(RPGRIP1):c.161G>A (p.Arg54His) rs376250340 0.00016
NM_031935.3(HMCN1):c.11231T>A (p.Ile3744Lys) rs149594098 0.00016
NM_031935.3(HMCN1):c.7677G>C (p.Lys2559Asn) rs139899015 0.00016
NM_206933.4(USH2A):c.8552A>C (p.Asn2851Thr) rs577389392 0.00016
NM_206933.4(USH2A):c.9604C>G (p.Pro3202Ala) rs113786363 0.00016
NM_031935.3(HMCN1):c.12746C>T (p.Thr4249Ile) rs200642597 0.00015
NM_031935.3(HMCN1):c.3403A>G (p.Met1135Val) rs781513060 0.00015
NM_031935.3(HMCN1):c.5137G>A (p.Val1713Met) rs140990615 0.00015
NM_206933.4(USH2A):c.5330G>A (p.Arg1777Gln) rs541275063 0.00015
NM_000186.4(CFH):c.472G>A (p.Val158Ile) rs141852866 0.00014
NM_020366.4(RPGRIP1):c.968T>C (p.Leu323Pro) rs199982906 0.00014
NM_031935.3(HMCN1):c.109G>A (p.Glu37Lys) rs199574143 0.00014
NM_031935.3(HMCN1):c.15109T>C (p.Tyr5037His) rs41317505 0.00014
NM_206933.4(USH2A):c.127G>A (p.Val43Met) rs147421006 0.00014
NM_206933.4(USH2A):c.13477C>T (p.Arg4493Cys) rs144543286 0.00014
NM_206933.4(USH2A):c.3252G>T (p.Trp1084Cys) rs200289497 0.00014
NM_206933.4(USH2A):c.3375T>G (p.Ile1125Met) rs143319658 0.00014
NM_206933.4(USH2A):c.7291C>T (p.Pro2431Ser) rs148136966 0.00014
NM_206933.4(USH2A):c.9992T>A (p.Met3331Lys) rs141452179 0.00014
NM_000186.4(CFH):c.388G>A (p.Asp130Asn) rs147002633 0.00013
NM_206933.4(USH2A):c.1903A>G (p.Ile635Val) rs201808654 0.00013
NM_206933.4(USH2A):c.4697A>G (p.Gln1566Arg) rs376314751 0.00013
NM_206933.4(USH2A):c.6080A>C (p.Asn2027Thr) rs144112891 0.00013
NM_206933.4(USH2A):c.7312G>A (p.Val2438Met) rs370988961 0.00013
NM_020366.4(RPGRIP1):c.1904C>G (p.Ala635Gly) rs200325360 0.00012
NM_201253.3(CRB1):c.2681A>G (p.Asn894Ser) rs62636290 0.00012
NM_000186.4(CFH):c.2488C>T (p.Arg830Trp) rs62641696 0.00011
NM_000186.4(CFH):c.476G>A (p.Ser159Asn) rs370640334 0.00011
NM_020366.4(RPGRIP1):c.2063C>T (p.Ser688Leu) rs543867152 0.00011
NM_020366.4(RPGRIP1):c.491-3T>C rs749376395 0.00011
NM_025099.6(CTC1):c.2767G>T (p.Gly923Trp) rs771646414 0.00011
NM_031935.3(HMCN1):c.4373A>G (p.Asn1458Ser) rs757430423 0.00011
NM_031935.3(HMCN1):c.974G>A (p.Arg325Gln) rs202206115 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_206933.4(USH2A):c.188G>A (p.Arg63Gln) rs369806765 0.00011
NM_206933.4(USH2A):c.3443C>T (p.Pro1148Leu) rs141339026 0.00011
NM_000186.4(CFH):c.2461C>T (p.His821Tyr) rs367687415 0.00010
NM_000186.4(CFH):c.332T>A (p.Val111Glu) rs576819823 0.00010
NM_025099.6(CTC1):c.391G>A (p.Gly131Arg) rs200137992 0.00010
NM_031935.3(HMCN1):c.16526G>A (p.Arg5509Gln) rs140641844 0.00010
NM_031935.3(HMCN1):c.16811G>T (p.Arg5604Leu) rs372803002 0.00010
NM_206933.4(USH2A):c.11506C>T (p.Pro3836Ser) rs371987720 0.00010
NM_206933.4(USH2A):c.12897G>T (p.Arg4299Ser) rs143898511 0.00010
NM_206933.4(USH2A):c.14567A>G (p.Asn4856Ser) rs139799843 0.00010
NM_206933.4(USH2A):c.4046C>T (p.Ser1349Phe) rs145148501 0.00010
NM_206933.4(USH2A):c.7379G>A (p.Arg2460His) rs368681648 0.00010
NM_206933.4(USH2A):c.7936C>A (p.Pro2646Thr) rs760777446 0.00010
NM_001377295.2(GNAT2):c.1057C>T (p.Leu353Phe) rs61754627 0.00009
NM_025099.6(CTC1):c.2307G>T (p.Trp769Cys) rs201879837 0.00009
NM_025099.6(CTC1):c.3247G>A (p.Glu1083Lys) rs201885165 0.00009
NM_031935.3(HMCN1):c.14639T>G (p.Ile4880Ser) rs77460954 0.00009
NM_031935.3(HMCN1):c.1751A>G (p.Asn584Ser) rs143393655 0.00009
NM_031935.3(HMCN1):c.6239G>C (p.Arg2080Thr) rs199945360 0.00009
NM_201253.3(CRB1):c.3809A>G (p.Asn1270Ser) rs138667698 0.00009
NM_206933.4(USH2A):c.11923G>A (p.Ala3975Thr) rs372327495 0.00009
NM_206933.4(USH2A):c.12818A>G (p.Tyr4273Cys) rs777874309 0.00009
NM_206933.4(USH2A):c.1981C>G (p.Gln661Glu) rs140955723 0.00009
NM_206933.4(USH2A):c.2035G>A (p.Gly679Arg) rs367693972 0.00009
NM_206933.4(USH2A):c.2414G>C (p.Gly805Ala) rs587783023 0.00009
NM_206933.4(USH2A):c.3226C>T (p.Pro1076Ser) rs139089840 0.00009
NM_206933.4(USH2A):c.4618G>A (p.Asp1540Asn) rs752238803 0.00009
NM_020366.4(RPGRIP1):c.2510C>G (p.Ala837Gly) rs373515194 0.00008
NM_025099.6(CTC1):c.3605G>A (p.Arg1202Gln) rs778830884 0.00008
NM_031935.3(HMCN1):c.11915C>T (p.Ala3972Val) rs752692827 0.00008
NM_031935.3(HMCN1):c.16741G>A (p.Ala5581Thr) rs754660196 0.00008
NM_206933.4(USH2A):c.13406A>G (p.Asn4469Ser) rs796610671 0.00008
NM_206933.4(USH2A):c.5318T>A (p.Ile1773Lys) rs371201450 0.00008
NM_206933.4(USH2A):c.7787A>G (p.Tyr2596Cys) rs371685066 0.00008
NM_206933.4(USH2A):c.8096G>A (p.Arg2699Gln) rs748137104 0.00008
NM_022367.4(SEMA4A):c.1991C>T (p.Pro664Leu) rs200251591 0.00007
NM_022367.4(SEMA4A):c.494C>T (p.Ser165Leu) rs201943133 0.00007
NM_031935.3(HMCN1):c.11722G>C (p.Val3908Leu) rs146636123 0.00007
NM_031935.3(HMCN1):c.13875T>G (p.Cys4625Trp) rs371095992 0.00007
NM_031935.3(HMCN1):c.13966A>G (p.Ser4656Gly) rs776783939 0.00007
NM_031935.3(HMCN1):c.15127G>A (p.Val5043Ile) rs769706639 0.00007
NM_031935.3(HMCN1):c.3422G>A (p.Arg1141His) rs370518238 0.00007
NM_031935.3(HMCN1):c.6511C>T (p.Arg2171Cys) rs41317477 0.00007
NM_031935.3(HMCN1):c.7714A>G (p.Thr2572Ala) rs201878929 0.00007
NM_206933.4(USH2A):c.15356G>A (p.Arg5119Gln) rs201630132 0.00007
NM_206933.4(USH2A):c.1556A>G (p.Gln519Arg) rs199672621 0.00007
NM_206933.4(USH2A):c.191G>A (p.Ser64Asn) rs778199517 0.00007
NM_206933.4(USH2A):c.3045C>G (p.His1015Gln) rs541918040 0.00007
NM_206933.4(USH2A):c.7061G>A (p.Arg2354His) rs201386640 0.00007
NM_206933.4(USH2A):c.9922G>A (p.Gly3308Ser) rs752811693 0.00007
NM_000186.4(CFH):c.1922T>C (p.Val641Ala) rs371768180 0.00006
NM_000186.4(CFH):c.2195C>T (p.Thr732Met) rs201360629 0.00006
NM_000329.3(RPE65):c.1238G>A (p.Arg413His) rs200950327 0.00006
NM_020366.4(RPGRIP1):c.3064C>T (p.Leu1022Phe) rs367899074 0.00006
NM_020366.4(RPGRIP1):c.3221C>G (p.Pro1074Arg) rs372226099 0.00006
NM_020366.4(RPGRIP1):c.50T>C (p.Ile17Thr) rs201384449 0.00006
NM_022367.4(SEMA4A):c.1265C>T (p.Thr422Ile) rs145228550 0.00006
NM_022367.4(SEMA4A):c.2251G>A (p.Ala751Thr) rs747089050 0.00006
NM_025099.6(CTC1):c.1765C>T (p.Arg589Cys) rs759152295 0.00006
NM_025099.6(CTC1):c.1957C>T (p.Arg653Trp) rs200222583 0.00006
NM_025099.6(CTC1):c.596C>T (p.Thr199Met) rs747323535 0.00006
NM_031935.3(HMCN1):c.13442C>A (p.Ser4481Tyr) rs747405345 0.00006
NM_031935.3(HMCN1):c.1655C>A (p.Thr552Asn) rs200601125 0.00006
NM_031935.3(HMCN1):c.4385A>T (p.Glu1462Val) rs371177035 0.00006
NM_031935.3(HMCN1):c.7327C>T (p.Arg2443Trp) rs376132541 0.00006
NM_201253.3(CRB1):c.1471G>A (p.Asp491Asn) rs937362854 0.00006
NM_206933.4(USH2A):c.10126T>G (p.Tyr3376Asp) rs150617613 0.00006
NM_206933.4(USH2A):c.10999A>C (p.Thr3667Pro) rs150822759 0.00006
NM_206933.4(USH2A):c.11230A>G (p.Arg3744Gly) rs1426369789 0.00006
NM_206933.4(USH2A):c.11366T>C (p.Ile3789Thr) rs183979371 0.00006
NM_206933.4(USH2A):c.12358C>T (p.Arg4120Cys) rs727503718 0.00006
NM_206933.4(USH2A):c.12667T>C (p.Phe4223Leu) rs150900847 0.00006
NM_206933.4(USH2A):c.13423A>G (p.Arg4475Gly) rs753823008 0.00006
NM_206933.4(USH2A):c.13490T>A (p.Phe4497Tyr) rs145719886 0.00006
NM_206933.4(USH2A):c.1438G>A (p.Val480Ile) rs138694314 0.00006
NM_206933.4(USH2A):c.14398A>G (p.Asn4800Asp) rs370127889 0.00006
NM_206933.4(USH2A):c.14957C>T (p.Thr4986Met) rs375429745 0.00006
NM_206933.4(USH2A):c.184G>A (p.Asp62Asn) rs567937233 0.00006
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp) rs201527662 0.00006
NM_206933.4(USH2A):c.5789G>A (p.Arg1930Gln) rs200348779 0.00006
NM_206933.4(USH2A):c.5855C>T (p.Ala1952Val) rs773405046 0.00006
NM_206933.4(USH2A):c.586C>T (p.Pro196Ser) rs756041909 0.00006
NM_206933.4(USH2A):c.6563C>A (p.Thr2188Lys) rs374409616 0.00006
NM_206933.4(USH2A):c.6724G>A (p.Glu2242Lys) rs375278546 0.00006
NM_206933.4(USH2A):c.7616C>T (p.Pro2539Leu) rs147333637 0.00006
NM_206933.4(USH2A):c.7679A>G (p.Asn2560Ser) rs370155266 0.00006
NM_206933.4(USH2A):c.8790T>G (p.Asn2930Lys) rs754774098 0.00006
NM_206933.4(USH2A):c.9356G>A (p.Arg3119His) rs199885325 0.00006
NM_206933.4(USH2A):c.9949C>T (p.Arg3317Cys) rs200696560 0.00006
NM_000186.4(CFH):c.3160G>A (p.Val1054Ile) rs757426928 0.00005
NM_000329.3(RPE65):c.565G>A (p.Val189Ile) rs752990312 0.00005
NM_014249.4(NR2E3):c.1096G>A (p.Val366Met) rs150971548 0.00005
NM_022367.4(SEMA4A):c.1028T>C (p.Leu343Pro) rs368854370 0.00005
NM_022367.4(SEMA4A):c.86C>T (p.Thr29Met) rs1045906206 0.00005
NM_025099.6(CTC1):c.2800G>A (p.Ala934Thr) rs369721966 0.00005
NM_025099.6(CTC1):c.3524G>A (p.Arg1175Gln) rs201788219 0.00005
NM_031935.3(HMCN1):c.13888G>A (p.Val4630Met) rs146247104 0.00005
NM_031935.3(HMCN1):c.15467A>G (p.His5156Arg) rs770537331 0.00005
NM_031935.3(HMCN1):c.16299T>G (p.Ile5433Met) rs553018813 0.00005
NM_031935.3(HMCN1):c.1973A>G (p.Tyr658Cys) rs370251638 0.00005
NM_031935.3(HMCN1):c.6974C>T (p.Thr2325Ile) rs147722917 0.00005
NM_201253.3(CRB1):c.863G>T (p.Cys288Phe) rs148240351 0.00005
NM_206933.4(USH2A):c.1346G>A (p.Arg449His) rs766715882 0.00005
NM_206933.4(USH2A):c.1816G>C (p.Asp606His) rs111033410 0.00005
NM_206933.4(USH2A):c.2792G>A (p.Cys931Tyr) rs145383772 0.00005
NM_206933.4(USH2A):c.7540A>C (p.Asn2514His) rs777618162 0.00005
NM_206933.4(USH2A):c.8710G>A (p.Val2904Ile) rs142649882 0.00005
NM_000186.4(CFH):c.1998G>T (p.Lys666Asn) rs752859825 0.00004
NM_000186.4(CFH):c.3028G>A (p.Ala1010Thr) rs11539862 0.00004
NM_000186.4(CFH):c.481G>T (p.Ala161Ser) rs777300338 0.00004
NM_000186.4(CFH):c.565G>A (p.Glu189Lys) rs121913054 0.00004
NM_000186.4(CFH):c.764G>A (p.Gly255Glu) rs771112278 0.00004
NM_017739.4(POMGNT1):c.1927T>G (p.Phe643Val) rs199534074 0.00004
NM_020366.4(RPGRIP1):c.116G>A (p.Ser39Asn) rs376435824 0.00004
NM_020366.4(RPGRIP1):c.2663G>A (p.Arg888Gln) rs559905596 0.00004
NM_020366.4(RPGRIP1):c.3377C>T (p.Ala1126Val) rs760334377 0.00004
NM_022367.4(SEMA4A):c.1123C>T (p.Arg375Trp) rs201094714 0.00004
NM_022367.4(SEMA4A):c.1214C>T (p.Thr405Met) rs776231562 0.00004
NM_022367.4(SEMA4A):c.1481G>A (p.Arg494Gln) rs559896573 0.00004
NM_022367.4(SEMA4A):c.247G>C (p.Ala83Pro) rs746991043 0.00004
NM_022367.4(SEMA4A):c.473A>G (p.Asp158Gly) rs200090107 0.00004
NM_022367.4(SEMA4A):c.944C>T (p.Pro315Leu) rs147148406 0.00004
NM_025099.6(CTC1):c.3505G>A (p.Val1169Ile) rs377491661 0.00004
NM_031885.5(BBS2):c.422A>G (p.Asn141Ser) rs144680278 0.00004
NM_031935.3(HMCN1):c.12043C>T (p.Pro4015Ser) rs367750334 0.00004
NM_031935.3(HMCN1):c.12149G>A (p.Arg4050Gln) rs565996021 0.00004
NM_031935.3(HMCN1):c.13637G>A (p.Gly4546Glu) rs202140956 0.00004
NM_031935.3(HMCN1):c.15182C>T (p.Ala5061Val) rs754953588 0.00004
NM_031935.3(HMCN1):c.1900T>C (p.Ser634Pro) rs779907065 0.00004
NM_031935.3(HMCN1):c.4223A>C (p.Gln1408Pro) rs201953947 0.00004
NM_031935.3(HMCN1):c.4772G>A (p.Ser1591Asn) rs140480677 0.00004
NM_031935.3(HMCN1):c.7160T>C (p.Ile2387Thr) rs536019281 0.00004
NM_031935.3(HMCN1):c.8776C>T (p.Arg2926Ter) rs142475663 0.00004
NM_031935.3(HMCN1):c.9637C>T (p.Arg3213Trp) rs1404028877 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.3202A>G (p.Thr1068Ala) rs886045787 0.00004
NM_201253.3(CRB1):c.4157A>G (p.Lys1386Arg) rs776191501 0.00004
NM_206933.4(USH2A):c.10931C>T (p.Thr3644Met) rs185823130 0.00004
NM_206933.4(USH2A):c.11134G>A (p.Val3712Ile) rs201951918 0.00004
NM_206933.4(USH2A):c.13484G>A (p.Arg4495His) rs550096037 0.00004
NM_206933.4(USH2A):c.1388A>G (p.Tyr463Cys) rs139997881 0.00004
NM_206933.4(USH2A):c.14570G>C (p.Gly4857Ala) rs749889050 0.00004
NM_206933.4(USH2A):c.15281C>T (p.Pro5094Leu) rs727503714 0.00004
NM_206933.4(USH2A):c.15343A>G (p.Ile5115Val) rs753175395 0.00004
NM_206933.4(USH2A):c.1601A>G (p.Tyr534Cys) rs570446209 0.00004
NM_206933.4(USH2A):c.1704C>T (p.Tyr568=) rs766038321 0.00004
NM_206933.4(USH2A):c.1877G>A (p.Arg626Gln) rs192524347 0.00004
NM_206933.4(USH2A):c.2726C>A (p.Pro909His) rs752748453 0.00004
NM_206933.4(USH2A):c.2777G>A (p.Arg926His) rs146916397 0.00004
NM_206933.4(USH2A):c.286A>G (p.Thr96Ala) rs557642490 0.00004
NM_206933.4(USH2A):c.3937A>G (p.Asn1313Asp) rs540537272 0.00004
NM_206933.4(USH2A):c.4562G>A (p.Arg1521His) rs770394440 0.00004
NM_206933.4(USH2A):c.5410A>G (p.Ile1804Val) rs201804063 0.00004
NM_206933.4(USH2A):c.6397T>C (p.Trp2133Arg) rs370643158 0.00004
NM_206933.4(USH2A):c.6602A>T (p.Gln2201Leu) rs143107117 0.00004
NM_206933.4(USH2A):c.7951A>G (p.Asn2651Asp) rs141134147 0.00004
NM_206933.4(USH2A):c.8146G>A (p.Glu2716Lys) rs531822235 0.00004
NM_206933.4(USH2A):c.8935G>A (p.Val2979Ile) rs769479181 0.00004
NM_206933.4(USH2A):c.9240C>A (p.Phe3080Leu) rs397518044 0.00004
NM_000186.4(CFH):c.526T>C (p.Phe176Leu) rs762132970 0.00003
NM_000186.4(CFH):c.647T>C (p.Ile216Thr) rs183474263 0.00003
NM_001377295.2(GNAT2):c.818T>A (p.Leu273His) rs368906691 0.00003
NM_017739.4(POMGNT1):c.440G>A (p.Arg147His) rs776165339 0.00003
NM_020366.4(RPGRIP1):c.77C>T (p.Ala26Val) rs187598648 0.00003
NM_020366.4(RPGRIP1):c.787G>T (p.Ala263Ser) rs780673799 0.00003
NM_025099.6(CTC1):c.1585C>A (p.Leu529Ile) rs201560353 0.00003
NM_031935.3(HMCN1):c.11191G>A (p.Val3731Ile) rs773110395 0.00003
NM_031935.3(HMCN1):c.12320C>T (p.Pro4107Leu) rs766042341 0.00003
NM_031935.3(HMCN1):c.15283G>A (p.Gly5095Arg) rs373876634 0.00003
NM_031935.3(HMCN1):c.15746G>A (p.Arg5249His) rs766387783 0.00003
NM_031935.3(HMCN1):c.2266C>T (p.Leu756Phe) rs754608294 0.00003
NM_031935.3(HMCN1):c.3278C>A (p.Ala1093Glu) rs373402377 0.00003
NM_201253.3(CRB1):c.263C>T (p.Thr88Ile) rs201893755 0.00003
NM_201253.3(CRB1):c.3625G>A (p.Val1209Met) rs201349525 0.00003
NM_206933.4(USH2A):c.10358C>G (p.Thr3453Arg) rs375485721 0.00003
NM_206933.4(USH2A):c.10387+5C>G rs746536041 0.00003
NM_206933.4(USH2A):c.10634G>A (p.Arg3545Gln) rs375978706 0.00003
NM_206933.4(USH2A):c.12701C>T (p.Thr4234Met) rs564240175 0.00003
NM_206933.4(USH2A):c.13250A>G (p.Tyr4417Cys) rs794727826 0.00003
NM_206933.4(USH2A):c.13732A>G (p.Lys4578Glu) rs765354805 0.00003
NM_206933.4(USH2A):c.13832C>T (p.Ala4611Val) rs376077079 0.00003
NM_206933.4(USH2A):c.15499A>G (p.Met5167Val) rs755573653 0.00003
NM_206933.4(USH2A):c.1585A>C (p.Thr529Pro) rs201332729 0.00003
NM_206933.4(USH2A):c.3532C>G (p.Pro1178Ala) rs372081834 0.00003
NM_206933.4(USH2A):c.3584G>T (p.Cys1195Phe) rs727504652 0.00003
NM_206933.4(USH2A):c.4169C>G (p.Thr1390Arg) rs370430107 0.00003
NM_206933.4(USH2A):c.5051C>T (p.Pro1684Leu) rs771088957 0.00003
NM_206933.4(USH2A):c.5842C>T (p.Arg1948Cys) rs145647517 0.00003
NM_206933.4(USH2A):c.5941A>G (p.Arg1981Gly) rs775877218 0.00003
NM_206933.4(USH2A):c.7027C>T (p.Arg2343Trp) rs149606872 0.00003
NM_206933.4(USH2A):c.9244A>G (p.Ile3082Val) rs527689947 0.00003
NM_206933.4(USH2A):c.9291A>C (p.Lys3097Asn) rs143872133 0.00003
NM_206933.4(USH2A):c.9355C>T (p.Arg3119Cys) rs576236830 0.00003
NM_206933.4(USH2A):c.9583G>A (p.Gly3195Arg) rs149027999 0.00003
NM_206933.4(USH2A):c.9998A>G (p.Asp3333Gly) rs769233119 0.00003
NM_000186.4(CFH):c.122C>T (p.Thr41Ile) rs1192717326 0.00002
NM_000186.4(CFH):c.1507C>G (p.Pro503Ala) rs570523689 0.00002
NM_000186.4(CFH):c.1913A>G (p.Asn638Ser) rs755928805 0.00002
NM_000186.4(CFH):c.2278A>T (p.Ile760Leu) rs772553879 0.00002
NM_000186.4(CFH):c.2456A>G (p.Asn819Ser) rs781393769 0.00002
NM_000186.4(CFH):c.2639C>T (p.Thr880Ile) rs186711438 0.00002
NM_000186.4(CFH):c.2900G>A (p.Gly967Glu) rs375951438 0.00002
NM_000186.4(CFH):c.33G>T (p.Met11Ile) rs779670935 0.00002
NM_001377295.2(GNAT2):c.724C>T (p.Arg242Cys) rs754414120 0.00002
NM_020366.4(RPGRIP1):c.1059G>C (p.Leu353Phe) rs756365691 0.00002
NM_020366.4(RPGRIP1):c.2291C>T (p.Ala764Val) rs758652031 0.00002
NM_020366.4(RPGRIP1):c.938G>A (p.Gly313Glu) rs755322533 0.00002
NM_022367.4(SEMA4A):c.1987G>A (p.Val663Ile) rs202048433 0.00002
NM_025099.6(CTC1):c.1625G>A (p.Arg542Gln) rs776684484 0.00002
NM_025099.6(CTC1):c.2371G>A (p.Asp791Asn) rs754090012 0.00002
NM_025099.6(CTC1):c.3196A>T (p.Thr1066Ser) rs373875495 0.00002
NM_025099.6(CTC1):c.3494C>T (p.Pro1165Leu) rs766537691 0.00002
NM_025099.6(CTC1):c.3532C>T (p.Arg1178Ter) rs200919310 0.00002
NM_025099.6(CTC1):c.738C>G (p.Ile246Met) rs1463129527 0.00002
NM_031885.5(BBS2):c.2144G>A (p.Arg715Gln) rs761068592 0.00002
NM_031935.3(HMCN1):c.12963G>C (p.Glu4321Asp) rs773577908 0.00002
NM_031935.3(HMCN1):c.15366C>A (p.His5122Gln) rs370909774 0.00002
NM_031935.3(HMCN1):c.7078C>T (p.Arg2360Cys) rs779454634 0.00002
NM_031935.3(HMCN1):c.7955C>T (p.Ala2652Val) rs200327975 0.00002
NM_031935.3(HMCN1):c.8489G>A (p.Gly2830Glu) rs749154171 0.00002
NM_201253.3(CRB1):c.2875G>A (p.Gly959Ser) rs557111131 0.00002
NM_206933.4(USH2A):c.10613G>A (p.Arg3538Gln) rs774844491 0.00002
NM_206933.4(USH2A):c.10633C>T (p.Arg3545Trp) rs145718329 0.00002
NM_206933.4(USH2A):c.10852G>A (p.Gly3618Ser) rs778158900 0.00002
NM_206933.4(USH2A):c.11714G>A (p.Arg3905His) rs201709470 0.00002
NM_206933.4(USH2A):c.12112A>G (p.Thr4038Ala) rs754979740 0.00002
NM_206933.4(USH2A):c.12128T>G (p.Val4043Gly) rs376528829 0.00002
NM_206933.4(USH2A):c.12361C>T (p.Arg4121Cys) rs772357461 0.00002
NM_206933.4(USH2A):c.12451G>C (p.Asp4151His) rs747947192 0.00002
NM_206933.4(USH2A):c.12724A>G (p.Thr4242Ala) rs140010020 0.00002
NM_206933.4(USH2A):c.13139C>T (p.Thr4380Ile) rs533179037 0.00002
NM_206933.4(USH2A):c.13364C>T (p.Thr4455Ile) rs373152283 0.00002
NM_206933.4(USH2A):c.1510C>A (p.His504Asn) rs533024548 0.00002
NM_206933.4(USH2A):c.15547G>A (p.Ala5183Thr) rs267598369 0.00002
NM_206933.4(USH2A):c.15575A>T (p.Lys5192Met) rs761474352 0.00002
NM_206933.4(USH2A):c.1582G>A (p.Asp528Asn) rs551424240 0.00002
NM_206933.4(USH2A):c.274T>G (p.Ser92Ala) rs192918169 0.00002
NM_206933.4(USH2A):c.3086G>T (p.Gly1029Val) rs768158580 0.00002
NM_206933.4(USH2A):c.3316+5G>C rs1442104013 0.00002
NM_206933.4(USH2A):c.4803A>T (p.Gln1601His) rs761306493 0.00002
NM_206933.4(USH2A):c.5095C>A (p.Gln1699Lys) rs1351926905 0.00002
NM_206933.4(USH2A):c.6133C>T (p.His2045Tyr) rs749333215 0.00002
NM_206933.4(USH2A):c.6448G>T (p.Val2150Phe) rs756234447 0.00002
NM_206933.4(USH2A):c.6800C>T (p.Pro2267Leu) rs397518027 0.00002
NM_206933.4(USH2A):c.6815C>T (p.Thr2272Met) rs776972526 0.00002
NM_206933.4(USH2A):c.7099G>A (p.Gly2367Arg) rs375744536 0.00002
NM_206933.4(USH2A):c.7183C>T (p.Leu2395Phe) rs372950392 0.00002
NM_206933.4(USH2A):c.7517A>G (p.Tyr2506Cys) rs937606032 0.00002
NM_206933.4(USH2A):c.8222A>G (p.Gln2741Arg) rs374456269 0.00002
NM_206933.4(USH2A):c.8486T>C (p.Val2829Ala) rs759063087 0.00002
NM_206933.4(USH2A):c.8741G>A (p.Arg2914Gln) rs760779633 0.00002
NM_206933.4(USH2A):c.8861A>T (p.Gln2954Leu) rs1467856164 0.00002
NM_206933.4(USH2A):c.9089T>C (p.Ile3030Thr) rs876658116 0.00002
NM_206933.4(USH2A):c.9415A>G (p.Ile3139Val) rs750899958 0.00002
NM_206933.4(USH2A):c.9806G>A (p.Gly3269Asp) rs762076576 0.00002
NM_000186.4(CFH):c.100A>T (p.Thr34Ser) rs1389897706 0.00001
NM_000186.4(CFH):c.1357A>T (p.Ile453Leu) rs1450633243 0.00001
NM_000186.4(CFH):c.1474A>G (p.Ile492Val) rs892717090 0.00001
NM_000186.4(CFH):c.1612G>C (p.Asp538His) rs778051521 0.00001
NM_000186.4(CFH):c.1697-3A>C rs778174105 0.00001
NM_000186.4(CFH):c.1744C>T (p.Arg582Cys) rs144696019 0.00001
NM_000186.4(CFH):c.1745G>A (p.Arg582His) rs138890387 0.00001
NM_000186.4(CFH):c.1864A>G (p.Ile622Val) rs990484984 0.00001
NM_000186.4(CFH):c.1934C>T (p.Thr645Met) rs749232210 0.00001
NM_000186.4(CFH):c.2047G>A (p.Val683Met) rs573295841 0.00001
NM_000186.4(CFH):c.2151C>A (p.Phe717Leu) rs763441589 0.00001
NM_000186.4(CFH):c.2416G>T (p.Ala806Ser) rs753331225 0.00001
NM_000186.4(CFH):c.2542G>A (p.Gly848Arg) rs886045746 0.00001
NM_000186.4(CFH):c.2753G>A (p.Gly918Glu) rs1408179720 0.00001
NM_000186.4(CFH):c.3130A>G (p.Arg1044Gly) rs1366929531 0.00001
NM_000186.4(CFH):c.3134-7T>C rs779166622 0.00001
NM_000186.4(CFH):c.3357C>G (p.Asp1119Glu) rs1408795010 0.00001
NM_000186.4(CFH):c.3358A>T (p.Ile1120Phe) rs771435716 0.00001
NM_000186.4(CFH):c.3581G>A (p.Gly1194Asp) rs761877050 0.00001
NM_000186.4(CFH):c.506A>G (p.His169Arg) rs768647508 0.00001
NM_000186.4(CFH):c.524G>C (p.Arg175Pro) rs139360826 0.00001
NM_000186.4(CFH):c.727T>C (p.Tyr243His) rs748692496 0.00001
NM_000186.4(CFH):c.889G>A (p.Gly297Ser) rs764573258 0.00001
NM_000329.3(RPE65):c.547A>G (p.Ile183Val) rs1010958875 0.00001
NM_001142800.2(EYS):c.4440A>G (p.Arg1480=) rs886061675 0.00001
NM_001142800.2(EYS):c.7868G>A (p.Gly2623Glu) rs559824825 0.00001
NM_001377295.2(GNAT2):c.1031T>C (p.Ile344Thr) rs753014058 0.00001
NM_001377295.2(GNAT2):c.243C>G (p.Ile81Met) rs200316722 0.00001
NM_001377295.2(GNAT2):c.715G>A (p.Glu239Lys) rs140788789 0.00001
NM_017739.4(POMGNT1):c.1721C>T (p.Thr574Ile) rs556069604 0.00001
NM_017739.4(POMGNT1):c.793C>T (p.Arg265Cys) rs774752168 0.00001
NM_017739.4(POMGNT1):c.799C>T (p.Arg267Cys) rs148131756 0.00001
NM_017739.4(POMGNT1):c.902A>G (p.Asn301Ser) rs754653320 0.00001
NM_020366.4(RPGRIP1):c.1921G>A (p.Ala641Thr) rs753575515 0.00001
NM_020366.4(RPGRIP1):c.1976A>G (p.Tyr659Cys) rs1278572461 0.00001
NM_020366.4(RPGRIP1):c.2441G>T (p.Arg814Leu) rs372647080 0.00001
NM_020366.4(RPGRIP1):c.3814G>A (p.Val1272Ile) rs778860397 0.00001
NM_020366.4(RPGRIP1):c.386A>T (p.His129Leu) rs547876047 0.00001
NM_022367.4(SEMA4A):c.1094C>T (p.Thr365Ile) rs768826705 0.00001
NM_022367.4(SEMA4A):c.1174A>C (p.Met392Leu) rs1475557484 0.00001
NM_022367.4(SEMA4A):c.1287C>G (p.His429Gln) rs368904425 0.00001
NM_022367.4(SEMA4A):c.1685C>T (p.Pro562Leu) rs780625142 0.00001
NM_022367.4(SEMA4A):c.2131C>T (p.Arg711Trp) rs762468169 0.00001
NM_022367.4(SEMA4A):c.394G>A (p.Val132Ile) rs374333337 0.00001
NM_022367.4(SEMA4A):c.427G>A (p.Gly143Ser) rs773687726 0.00001
NM_025099.6(CTC1):c.1117T>C (p.Tyr373His) rs1200884099 0.00001
NM_025099.6(CTC1):c.1459A>G (p.Arg487Gly) rs747887601 0.00001
NM_025099.6(CTC1):c.2128G>A (p.Ala710Thr) rs1567604032 0.00001
NM_025099.6(CTC1):c.2333G>A (p.Gly778Asp) rs1427706121 0.00001
NM_025099.6(CTC1):c.2439G>A (p.Pro813=) rs200759730 0.00001
NM_025099.6(CTC1):c.2518C>T (p.Arg840Trp) rs373905859 0.00001
NM_025099.6(CTC1):c.3190A>G (p.Thr1064Ala) rs777357385 0.00001
NM_025099.6(CTC1):c.444C>A (p.Asp148Glu) rs542910040 0.00001
NM_025099.6(CTC1):c.598C>T (p.Pro200Ser) rs772395506 0.00001
NM_025099.6(CTC1):c.917G>A (p.Arg306His) rs567779457 0.00001
NM_031935.3(HMCN1):c.10958T>C (p.Ile3653Thr) rs746480984 0.00001
NM_031935.3(HMCN1):c.11006G>A (p.Arg3669Gln) rs745313929 0.00001
NM_031935.3(HMCN1):c.1165T>C (p.Trp389Arg) rs777770411 0.00001
NM_031935.3(HMCN1):c.12667G>A (p.Glu4223Lys) rs1400175925 0.00001
NM_031935.3(HMCN1):c.12986C>T (p.Thr4329Ile) rs200984902 0.00001
NM_031935.3(HMCN1):c.13162G>A (p.Val4388Met) rs563362752 0.00001
NM_031935.3(HMCN1):c.15076C>T (p.Arg5026Trp) rs536701183 0.00001
NM_031935.3(HMCN1):c.15685A>G (p.Met5229Val) rs748823261 0.00001
NM_031935.3(HMCN1):c.16754A>C (p.Glu5585Ala) rs771757920 0.00001
NM_031935.3(HMCN1):c.2261T>G (p.Leu754Trp) rs1046849931 0.00001
NM_031935.3(HMCN1):c.2656G>A (p.Gly886Arg) rs368702685 0.00001
NM_031935.3(HMCN1):c.3307G>A (p.Val1103Met) rs762631011 0.00001
NM_031935.3(HMCN1):c.3437G>A (p.Gly1146Glu) rs780422973 0.00001
NM_031935.3(HMCN1):c.4200+6T>C rs759273685 0.00001
NM_031935.3(HMCN1):c.4492G>A (p.Asp1498Asn) rs762354666 0.00001
NM_031935.3(HMCN1):c.4543G>T (p.Ala1515Ser) rs1332606772 0.00001
NM_031935.3(HMCN1):c.5241G>T (p.Met1747Ile) rs766434071 0.00001
NM_031935.3(HMCN1):c.7156A>G (p.Ile2386Val) rs1167111929 0.00001
NM_031935.3(HMCN1):c.7589C>G (p.Ser2530Cys) rs573119781 0.00001
NM_031935.3(HMCN1):c.8150C>T (p.Ser2717Phe) rs201586866 0.00001
NM_031935.3(HMCN1):c.856G>A (p.Val286Ile) rs376875658 0.00001
NM_031935.3(HMCN1):c.8975C>T (p.Pro2992Leu) rs574155244 0.00001
NM_031935.3(HMCN1):c.9127G>A (p.Glu3043Lys) rs747230633 0.00001
NM_031935.3(HMCN1):c.9157T>C (p.Tyr3053His) rs375407833 0.00001
NM_031935.3(HMCN1):c.9406G>A (p.Ala3136Thr) rs886045676 0.00001
NM_031935.3(HMCN1):c.9899A>G (p.Asn3300Ser) rs146969586 0.00001
NM_152443.3(RDH12):c.92G>A (p.Cys31Tyr) rs746979841 0.00001
NM_201253.3(CRB1):c.127T>C (p.Ser43Pro) rs1254919944 0.00001
NM_201253.3(CRB1):c.1507A>G (p.Thr503Ala) rs375590765 0.00001
NM_201253.3(CRB1):c.1732G>C (p.Val578Leu) rs769859765 0.00001
NM_201253.3(CRB1):c.1909C>T (p.Pro637Ser) rs1457623741 0.00001
NM_201253.3(CRB1):c.2195G>C (p.Ser732Thr) rs757381371 0.00001
NM_201253.3(CRB1):c.2330C>T (p.Pro777Leu) rs886045784 0.00001
NM_201253.3(CRB1):c.2636T>C (p.Val879Ala) rs772386967 0.00001
NM_201253.3(CRB1):c.2677-343G>A rs760861776 0.00001
NM_201253.3(CRB1):c.2713C>T (p.Arg905Trp) rs749366098 0.00001
NM_201253.3(CRB1):c.2983G>A (p.Glu995Lys) rs62635655 0.00001
NM_201253.3(CRB1):c.3103C>T (p.His1035Tyr) rs752329622 0.00001
NM_201253.3(CRB1):c.3317A>G (p.Tyr1106Cys) rs115649214 0.00001
NM_201253.3(CRB1):c.3727A>C (p.Asn1243His) rs746774206 0.00001
NM_201253.3(CRB1):c.3936C>G (p.Cys1312Trp) rs1665481687 0.00001
NM_201253.3(CRB1):c.635G>T (p.Cys212Phe) rs1658699227 0.00001
NM_201253.3(CRB1):c.713C>A (p.Thr238Asn) rs1452822430 0.00001
NM_201253.3(CRB1):c.914G>C (p.Cys305Ser) rs911156007 0.00001
NM_201253.3(CRB1):c.976C>T (p.His326Tyr) rs773386179 0.00001
NM_206933.4(USH2A):c.10058C>T (p.Pro3353Leu) rs755020832 0.00001
NM_206933.4(USH2A):c.10064C>T (p.Pro3355Leu) rs1253788950 0.00001
NM_206933.4(USH2A):c.10182+5T>C rs1049628868 0.00001
NM_206933.4(USH2A):c.10373C>T (p.Thr3458Met) rs149485593 0.00001
NM_206933.4(USH2A):c.10423A>G (p.Arg3475Gly) rs141098637 0.00001
NM_206933.4(USH2A):c.10559A>G (p.Asn3520Ser) rs777043718 0.00001
NM_206933.4(USH2A):c.10834G>A (p.Val3612Ile) rs763125604 0.00001
NM_206933.4(USH2A):c.10933G>A (p.Val3645Ile) rs397517970 0.00001
NM_206933.4(USH2A):c.11089A>G (p.Thr3697Ala) rs765454203 0.00001
NM_206933.4(USH2A):c.11206G>A (p.Asp3736Asn) rs1373104511 0.00001
NM_206933.4(USH2A):c.11263G>C (p.Gly3755Arg) rs397517971 0.00001
NM_206933.4(USH2A):c.11299A>T (p.Thr3767Ser) rs1289393326 0.00001
NM_206933.4(USH2A):c.11350A>C (p.Ile3784Leu) rs1660884865 0.00001
NM_206933.4(USH2A):c.11740G>A (p.Val3914Ile) rs1401744202 0.00001
NM_206933.4(USH2A):c.11887G>A (p.Ala3963Thr) rs541566194 0.00001
NM_206933.4(USH2A):c.11956A>G (p.Thr3986Ala) rs727505322 0.00001
NM_206933.4(USH2A):c.12092A>G (p.Tyr4031Cys) rs772969352 0.00001
NM_206933.4(USH2A):c.12316G>A (p.Gly4106Arg) rs1174206381 0.00001
NM_206933.4(USH2A):c.12359G>A (p.Arg4120His) rs188008529 0.00001
NM_206933.4(USH2A):c.12362G>A (p.Arg4121His) rs397517980 0.00001
NM_206933.4(USH2A):c.12415G>C (p.Gly4139Arg) rs138866017 0.00001
NM_206933.4(USH2A):c.12455A>G (p.Glu4152Gly) rs768614804 0.00001
NM_206933.4(USH2A):c.12458C>T (p.Ala4153Val) rs779875423 0.00001
NM_206933.4(USH2A):c.12559C>T (p.Arg4187Cys) rs760177550 0.00001
NM_206933.4(USH2A):c.12581G>A (p.Cys4194Tyr) rs955434291 0.00001
NM_206933.4(USH2A):c.12962A>G (p.Glu4321Gly) rs936692193 0.00001
NM_206933.4(USH2A):c.12967C>T (p.Leu4323Phe) rs750512832 0.00001
NM_206933.4(USH2A):c.12997C>G (p.Leu4333Val) rs770620234 0.00001
NM_206933.4(USH2A):c.13422C>G (p.Ile4474Met) rs1453273341 0.00001
NM_206933.4(USH2A):c.13441A>G (p.Arg4481Gly) rs878853406 0.00001
NM_206933.4(USH2A):c.13664C>T (p.Pro4555Leu) rs772415448 0.00001
NM_206933.4(USH2A):c.13684A>G (p.Ile4562Val) rs1427845684 0.00001
NM_206933.4(USH2A):c.13778C>T (p.Ser4593Leu) rs1202573136 0.00001
NM_206933.4(USH2A):c.13802C>T (p.Pro4601Leu) rs1176215017 0.00001
NM_206933.4(USH2A):c.14017T>C (p.Tyr4673His) rs1040917329 0.00001
NM_206933.4(USH2A):c.14153C>A (p.Ala4718Glu) rs201631375 0.00001
NM_206933.4(USH2A):c.14194C>T (p.Pro4732Ser) rs55838724 0.00001
NM_206933.4(USH2A):c.14328T>G (p.His4776Gln) rs1220949681 0.00001
NM_206933.4(USH2A):c.14405C>T (p.Ser4802Phe) rs775307880 0.00001
NM_206933.4(USH2A):c.14542C>T (p.Arg4848Trp) rs757728612 0.00001
NM_206933.4(USH2A):c.1481A>G (p.Tyr494Cys) rs898430789 0.00001
NM_206933.4(USH2A):c.14832G>T (p.Leu4944Phe) rs556415914 0.00001
NM_206933.4(USH2A):c.14914C>T (p.Arg4972Cys) rs766759858 0.00001
NM_206933.4(USH2A):c.14986A>T (p.Ile4996Phe) rs41308423 0.00001
NM_206933.4(USH2A):c.15038C>T (p.Thr5013Ile) rs397517996 0.00001
NM_206933.4(USH2A):c.15095G>A (p.Ser5032Asn) rs374144657 0.00001
NM_206933.4(USH2A):c.15169A>T (p.Ile5057Phe) rs542341955 0.00001
NM_206933.4(USH2A):c.15188T>C (p.Leu5063Pro) rs376816523 0.00001
NM_206933.4(USH2A):c.15346C>T (p.Arg5116Cys) rs759899869 0.00001
NM_206933.4(USH2A):c.15580C>T (p.Arg5194Cys) rs751811618 0.00001
NM_206933.4(USH2A):c.1678C>G (p.Pro560Ala) rs147509797 0.00001
NM_206933.4(USH2A):c.1840+4A>G rs749288291 0.00001
NM_206933.4(USH2A):c.1900G>T (p.Ala634Ser) rs759589036 0.00001
NM_206933.4(USH2A):c.1954A>G (p.Ser652Gly) rs397518005 0.00001
NM_206933.4(USH2A):c.2031G>T (p.Gln677His) rs753305011 0.00001
NM_206933.4(USH2A):c.206G>T (p.Ser69Ile) rs377254440 0.00001
NM_206933.4(USH2A):c.2167+4C>T rs200638562 0.00001
NM_206933.4(USH2A):c.2479A>C (p.Asn827His) rs876658114 0.00001
NM_206933.4(USH2A):c.2617G>A (p.Gly873Arg) rs1037325220 0.00001
NM_206933.4(USH2A):c.2642A>C (p.Gln881Pro) rs769767476 0.00001
NM_206933.4(USH2A):c.2761C>A (p.Leu921Met) rs772211390 0.00001
NM_206933.4(USH2A):c.2776C>T (p.Arg926Cys) rs749621457 0.00001
NM_206933.4(USH2A):c.2972G>A (p.Gly991Glu) rs779811357 0.00001
NM_206933.4(USH2A):c.3068G>A (p.Cys1023Tyr) rs1391032458 0.00001
NM_206933.4(USH2A):c.3176C>T (p.Pro1059Leu) rs547581739 0.00001
NM_206933.4(USH2A):c.3310C>A (p.Pro1104Thr) rs751890894 0.00001
NM_206933.4(USH2A):c.3405G>C (p.Arg1135Ser) rs372843685 0.00001
NM_206933.4(USH2A):c.3493G>C (p.Val1165Leu) rs727503734 0.00001
NM_206933.4(USH2A):c.3649G>A (p.Asp1217Asn) rs202247801 0.00001
NM_206933.4(USH2A):c.3664G>A (p.Ala1222Thr) rs761752531 0.00001
NM_206933.4(USH2A):c.3713C>T (p.Thr1238Ile) rs768461447 0.00001
NM_206933.4(USH2A):c.3899G>A (p.Ser1300Asn) rs772408328 0.00001
NM_206933.4(USH2A):c.3914C>T (p.Pro1305Leu) rs780574336 0.00001
NM_206933.4(USH2A):c.3938A>G (p.Asn1313Ser) rs145459379 0.00001
NM_206933.4(USH2A):c.4070C>T (p.Thr1357Met) rs201190539 0.00001
NM_206933.4(USH2A):c.4280T>C (p.Leu1427Pro) rs373130157 0.00001
NM_206933.4(USH2A):c.4314G>T (p.Arg1438Ser) rs776039417 0.00001
NM_206933.4(USH2A):c.4370C>T (p.Ser1457Leu) rs2034688425 0.00001
NM_206933.4(USH2A):c.4384A>C (p.Thr1462Pro) rs757315203 0.00001
NM_206933.4(USH2A):c.4436A>T (p.Asn1479Ile) rs961580455 0.00001
NM_206933.4(USH2A):c.4490C>T (p.Ser1497Phe) rs755482100 0.00001
NM_206933.4(USH2A):c.4544C>T (p.Thr1515Met) rs373599651 0.00001
NM_206933.4(USH2A):c.4733G>A (p.Arg1578His) rs552928943 0.00001
NM_206933.4(USH2A):c.4810G>A (p.Asp1604Asn) rs775241651 0.00001
NM_206933.4(USH2A):c.5003G>T (p.Gly1668Val) rs1265349835 0.00001
NM_206933.4(USH2A):c.5041A>G (p.Asn1681Asp) rs746010533 0.00001
NM_206933.4(USH2A):c.5059A>C (p.Ile1687Leu) rs144213699 0.00001
NM_206933.4(USH2A):c.5111A>T (p.Asn1704Ile) rs764080143 0.00001
NM_206933.4(USH2A):c.5189A>G (p.Tyr1730Cys) rs375519871 0.00001
NM_206933.4(USH2A):c.5375G>A (p.Gly1792Glu) rs527598451 0.00001
NM_206933.4(USH2A):c.5443A>G (p.Ser1815Gly) rs940913250 0.00001
NM_206933.4(USH2A):c.5752G>A (p.Glu1918Lys) rs529355834 0.00001
NM_206933.4(USH2A):c.5953G>A (p.Glu1985Lys) rs150143291 0.00001
NM_206933.4(USH2A):c.5992C>T (p.Arg1998Cys) rs777886737 0.00001
NM_206933.4(USH2A):c.6050G>A (p.Gly2017Asp) rs397518024 0.00001
NM_206933.4(USH2A):c.6325G>A (p.Asp2109Asn) rs759545289 0.00001
NM_206933.4(USH2A):c.6431A>C (p.Glu2144Ala) rs754703964 0.00001
NM_206933.4(USH2A):c.6492A>C (p.Lys2164Asn) rs727503724 0.00001
NM_206933.4(USH2A):c.651G>T (p.Gln217His) rs758696021 0.00001
NM_206933.4(USH2A):c.6589A>G (p.Thr2197Ala) rs887441664 0.00001
NM_206933.4(USH2A):c.6667G>A (p.Gly2223Ser) rs1047559421 0.00001
NM_206933.4(USH2A):c.6668G>A (p.Gly2223Asp) rs755612537 0.00001
NM_206933.4(USH2A):c.6712G>A (p.Glu2238Lys) rs774634733 0.00001
NM_206933.4(USH2A):c.6751T>A (p.Ser2251Thr) rs750302027 0.00001
NM_206933.4(USH2A):c.6806-3C>T rs775703386 0.00001
NM_206933.4(USH2A):c.6854A>G (p.Asn2285Ser) rs528089082 0.00001
NM_206933.4(USH2A):c.6889G>T (p.Ala2297Ser) rs150634036 0.00001
NM_206933.4(USH2A):c.6908C>T (p.Ser2303Phe) rs766809837 0.00001
NM_206933.4(USH2A):c.6968G>A (p.Arg2323Gln) rs772014718 0.00001
NM_206933.4(USH2A):c.6988G>A (p.Glu2330Lys) rs926377709 0.00001
NM_206933.4(USH2A):c.7039G>A (p.Val2347Met) rs727503721 0.00001
NM_206933.4(USH2A):c.7051G>A (p.Ala2351Thr) rs886042178 0.00001
NM_206933.4(USH2A):c.7105T>G (p.Phe2369Val) rs1475753019 0.00001
NM_206933.4(USH2A):c.7156G>T (p.Val2386Phe) rs199825458 0.00001
NM_206933.4(USH2A):c.7387G>A (p.Ala2463Thr) rs374569301 0.00001
NM_206933.4(USH2A):c.7412T>A (p.Leu2471His) rs1290644032 0.00001
NM_206933.4(USH2A):c.7436C>T (p.Thr2479Ile) rs876658115 0.00001
NM_206933.4(USH2A):c.8009C>G (p.Thr2670Ser) rs758382005 0.00001
NM_206933.4(USH2A):c.8021C>A (p.Thr2674Asn) rs754677752 0.00001
NM_206933.4(USH2A):c.8120G>A (p.Gly2707Glu) rs397518034 0.00001
NM_206933.4(USH2A):c.8168G>A (p.Arg2723Gln) rs267598376 0.00001
NM_206933.4(USH2A):c.8200G>A (p.Val2734Met) rs397518035 0.00001
NM_206933.4(USH2A):c.82A>G (p.Ile28Val) rs753515909 0.00001
NM_206933.4(USH2A):c.8392G>A (p.Gly2798Arg) rs397518037 0.00001
NM_206933.4(USH2A):c.8730T>A (p.Phe2910Leu) rs373811292 0.00001
NM_206933.4(USH2A):c.8851C>G (p.Gln2951Glu) rs201394390 0.00001
NM_206933.4(USH2A):c.8884C>A (p.Leu2962Ile) rs761359720 0.00001
NM_206933.4(USH2A):c.9095A>G (p.Asn3032Ser) rs768579751 0.00001
NM_206933.4(USH2A):c.9109C>T (p.Arg3037Cys) rs770418427 0.00001
NM_206933.4(USH2A):c.9156G>C (p.Glu3052Asp) rs766298464 0.00001
NM_206933.4(USH2A):c.9655A>G (p.Thr3219Ala) rs776395355 0.00001
NM_206933.4(USH2A):c.9820T>A (p.Ser3274Thr) rs1236116000 0.00001
NM_206933.4(USH2A):c.9851G>A (p.Gly3284Glu) rs1043013730 0.00001
NM_206933.4(USH2A):c.9862G>C (p.Asp3288His) rs1334903455 0.00001
NM_206933.4(USH2A):c.9884G>T (p.Cys3295Phe) rs1662221668 0.00001
NM_206933.4(USH2A):c.9967T>G (p.Cys3323Gly) rs766658893 0.00001
NM_206933.4(USH2A):c.9974G>A (p.Gly3325Glu) rs1378786390 0.00001
NM_206933.4(USH2A):c.9982T>A (p.Tyr3328Asn) rs1558099268 0.00001
NM_000186.4(CFH):c.1511C>T (p.Thr504Met) rs377008918
NM_000186.4(CFH):c.1795C>A (p.Pro599Thr)
NM_000186.4(CFH):c.2030A>G (p.Glu677Gly)
NM_000186.4(CFH):c.2054T>C (p.Ile685Thr) rs1431491220
NM_000186.4(CFH):c.2072G>C (p.Cys691Ser) rs2149108610
NM_000186.4(CFH):c.3118A>G (p.Arg1040Gly)
NM_000186.4(CFH):c.3169G>A (p.Ala1057Thr) rs1652885970
NM_000186.4(CFH):c.3446G>A (p.Arg1149Gln) rs1064795727
NM_000186.4(CFH):c.3493C>T (p.His1165Tyr)
NM_000186.4(CFH):c.497G>A (p.Arg166Gln) rs770339409
NM_000186.4(CFH):c.497G>T (p.Arg166Leu) rs770339409
NM_000186.4(CFH):c.773C>T (p.Pro258Leu)
NM_000186.4(CFH):c.7C>G (p.Leu3Val) rs139254423
NM_000274.4(OAT):c.799A>G (p.Thr267Ala) rs2134456603
NM_000329.3(RPE65):c.1205G>C (p.Trp402Ser) rs774130993
NM_000329.3(RPE65):c.462G>C (p.Lys154Asn) rs2100827532
NM_001142800.2(EYS):c.4261G>C (p.Ala1421Pro) rs545171658
NM_001142800.2(EYS):c.4290C>G (p.Ser1430Arg) rs2149832263
NM_001142800.2(EYS):c.5884A>G (p.Thr1962Ala) rs2150463938
NM_001142800.2(EYS):c.602A>G (p.His201Arg) rs1011260787
NM_001142800.2(EYS):c.6116A>T (p.Glu2039Val) rs2150375987
NM_001142800.2(EYS):c.7366G>A (p.Ala2456Thr) rs2149678928
NM_001142800.2(EYS):c.7480G>A (p.Gly2494Arg) rs1483377268
NM_001377295.2(GNAT2):c.281A>C (p.Asp94Ala)
NM_001377295.2(GNAT2):c.845A>C (p.His282Pro) rs779967692
NM_017739.4(POMGNT1):c.*457C>T rs1657513729
NM_017739.4(POMGNT1):c.1117A>C (p.Lys373Gln) rs752591703
NM_017739.4(POMGNT1):c.1681C>T (p.Pro561Ser) rs2148167563
NM_017739.4(POMGNT1):c.226C>A (p.Gln76Lys) rs972657462
NM_017739.4(POMGNT1):c.722A>G (p.Lys241Arg) rs2148202208
NM_019098.5(CNGB3):c.2313_2315del (p.Arg772del) rs758914061
NM_020366.4(RPGRIP1):c.1612-3C>A rs1594204748
NM_020366.4(RPGRIP1):c.268G>A (p.Val90Ile) rs1057519200
NM_020366.4(RPGRIP1):c.3444C>G (p.Phe1148Leu) rs886050401
NM_020366.4(RPGRIP1):c.3570G>T (p.Arg1190Ser) rs756503753
NM_022367.4(SEMA4A):c.1196A>T (p.Asp399Val) rs727504147
NM_022367.4(SEMA4A):c.1337C>T (p.Ala446Val) rs886045366
NM_022367.4(SEMA4A):c.1783C>T (p.Pro595Ser) rs1286943189
NM_022367.4(SEMA4A):c.2167C>A (p.Arg723Ser) rs199933282
NM_022367.4(SEMA4A):c.2175_2176dup (p.Glu726fs) rs780625314
NM_022367.4(SEMA4A):c.332G>A (p.Ser111Asn)
NM_022367.4(SEMA4A):c.94G>T (p.Gly32Trp)
NM_025099.6(CTC1):c.1241G>A (p.Gly414Glu) rs62624978
NM_025099.6(CTC1):c.13C>G (p.Arg5Gly) rs201280372
NM_025099.6(CTC1):c.248G>A (p.Ser83Asn) rs78870822
NM_025099.6(CTC1):c.33C>T (p.Ser11=) rs757066174
NM_025099.6(CTC1):c.502C>T (p.Pro168Ser) rs1385087993
NM_025099.6(CTC1):c.556G>C (p.Val186Leu) rs185346402
NM_025099.6(CTC1):c.8C>T (p.Ala3Val) rs923853643
NM_031885.5(BBS2):c.1169G>T (p.Ser390Ile) rs1169691619
NM_031885.5(BBS2):c.1973A>G (p.Tyr658Cys) rs753656568
NM_031935.3(HMCN1):c.1004T>A (p.Val335Asp)
NM_031935.3(HMCN1):c.10168C>T (p.Arg3390Trp)
NM_031935.3(HMCN1):c.10169G>A (p.Arg3390Gln) rs369620574
NM_031935.3(HMCN1):c.10403C>G (p.Ala3468Gly) rs201041141
NM_031935.3(HMCN1):c.10866T>G (p.Ile3622Met)
NM_031935.3(HMCN1):c.10996C>T (p.Pro3666Ser)
NM_031935.3(HMCN1):c.11054G>C (p.Gly3685Ala) rs145492995
NM_031935.3(HMCN1):c.11464A>G (p.Thr3822Ala)
NM_031935.3(HMCN1):c.11641G>A (p.Gly3881Ser)
NM_031935.3(HMCN1):c.11743G>A (p.Val3915Ile)
NM_031935.3(HMCN1):c.12073G>A (p.Gly4025Ser)
NM_031935.3(HMCN1):c.12726C>A (p.Asn4242Lys)
NM_031935.3(HMCN1):c.13070C>A (p.Ser4357Tyr)
NM_031935.3(HMCN1):c.13939A>G (p.Ser4647Gly)
NM_031935.3(HMCN1):c.13942G>T (p.Ala4648Ser) rs367723447
NM_031935.3(HMCN1):c.14021C>T (p.Pro4674Leu)
NM_031935.3(HMCN1):c.14129G>A (p.Ser4710Asn)
NM_031935.3(HMCN1):c.1442G>C (p.Ser481Thr)
NM_031935.3(HMCN1):c.14516G>A (p.Arg4839Gln)
NM_031935.3(HMCN1):c.14539G>A (p.Val4847Ile)
NM_031935.3(HMCN1):c.14918A>T (p.His4973Leu)
NM_031935.3(HMCN1):c.14952G>C (p.Leu4984Phe)
NM_031935.3(HMCN1):c.15043A>G (p.Thr5015Ala) rs767233028
NM_031935.3(HMCN1):c.15265A>T (p.Ser5089Cys) rs749090856
NM_031935.3(HMCN1):c.15478G>A (p.Ala5160Thr)
NM_031935.3(HMCN1):c.15691G>A (p.Val5231Met)
NM_031935.3(HMCN1):c.15808T>C (p.Cys5270Arg)
NM_031935.3(HMCN1):c.15893G>A (p.Cys5298Tyr)
NM_031935.3(HMCN1):c.15941T>C (p.Met5314Thr)
NM_031935.3(HMCN1):c.16032ACA[1] (p.Gln5345del) rs780673178
NM_031935.3(HMCN1):c.16280A>G (p.His5427Arg)
NM_031935.3(HMCN1):c.16612C>T (p.Leu5538Phe) rs369798131
NM_031935.3(HMCN1):c.16886C>G (p.Ala5629Gly)
NM_031935.3(HMCN1):c.2761G>C (p.Glu921Gln) rs568780532
NM_031935.3(HMCN1):c.3848G>A (p.Arg1283His)
NM_031935.3(HMCN1):c.3889A>T (p.Thr1297Ser)
NM_031935.3(HMCN1):c.451C>T (p.Arg151Trp)
NM_031935.3(HMCN1):c.452G>A (p.Arg151Gln)
NM_031935.3(HMCN1):c.4715G>A (p.Arg1572Gln)
NM_031935.3(HMCN1):c.4844C>T (p.Thr1615Ile)
NM_031935.3(HMCN1):c.4892T>G (p.Phe1631Cys) rs765224895
NM_031935.3(HMCN1):c.4936G>A (p.Ala1646Thr)
NM_031935.3(HMCN1):c.5546T>A (p.Ile1849Lys) rs756344375
NM_031935.3(HMCN1):c.5552A>G (p.Asn1851Ser)
NM_031935.3(HMCN1):c.5927T>C (p.Ile1976Thr)
NM_031935.3(HMCN1):c.6220C>A (p.Gln2074Lys) rs200822474
NM_031935.3(HMCN1):c.6250G>A (p.Val2084Met)
NM_031935.3(HMCN1):c.6733G>A (p.Val2245Ile)
NM_031935.3(HMCN1):c.6924G>C (p.Lys2308Asn)
NM_031935.3(HMCN1):c.781C>T (p.Arg261Cys)
NM_031935.3(HMCN1):c.7857C>A (p.Asn2619Lys)
NM_031935.3(HMCN1):c.7946C>T (p.Thr2649Met)
NM_031935.3(HMCN1):c.8140C>G (p.Pro2714Ala)
NM_031935.3(HMCN1):c.8324G>A (p.Gly2775Glu)
NM_031935.3(HMCN1):c.8579A>G (p.Gln2860Arg)
NM_031935.3(HMCN1):c.8876A>G (p.Asn2959Ser)
NM_031935.3(HMCN1):c.9433C>T (p.Leu3145Phe) rs192222844
NM_031935.3(HMCN1):c.9491C>T (p.Thr3164Met)
NM_031935.3(HMCN1):c.9771T>G (p.Ser3257Arg)
NM_152419.3(HGSNAT):c.1269G>A (p.Gly423=) rs2130807297
NM_152443.3(RDH12):c.345G>C (p.Glu115Asp) rs2038181425
NM_201253.3(CRB1):c.1023T>A (p.Asn341Lys) rs1064797127
NM_201253.3(CRB1):c.1110_1111delinsGC (p.Ser371Pro) rs1660514556
NM_201253.3(CRB1):c.1204T>C (p.Ser402Pro)
NM_201253.3(CRB1):c.1204T>G (p.Ser402Ala) rs781359016
NM_201253.3(CRB1):c.1313G>A (p.Cys438Tyr) rs1571522690
NM_201253.3(CRB1):c.1360G>A (p.Gly454Arg)
NM_201253.3(CRB1):c.1426A>G (p.Thr476Ala) rs1553260314
NM_201253.3(CRB1):c.1622A>G (p.Tyr541Cys)
NM_201253.3(CRB1):c.1699T>C (p.Trp567Arg) rs886043472
NM_201253.3(CRB1):c.1708G>A (p.Val570Met) rs754482666
NM_201253.3(CRB1):c.1755C>A (p.Asp585Glu) rs1034422363
NM_201253.3(CRB1):c.1783G>A (p.Ala595Thr) rs752212470
NM_201253.3(CRB1):c.1838_1840dup (p.Leu613_Gly614insVal) rs2125471114
NM_201253.3(CRB1):c.1910C>T (p.Pro637Leu) rs1238001290
NM_201253.3(CRB1):c.2056C>T (p.Arg686Cys) rs1204363918
NM_201253.3(CRB1):c.2340C>T (p.Pro780=) rs2125484301
NM_201253.3(CRB1):c.2423A>G (p.Tyr808Cys) rs1009552469
NM_201253.3(CRB1):c.2489T>A (p.Ile830Asn) rs2125484835
NM_201253.3(CRB1):c.2668A>G (p.Ser890Gly)
NM_201253.3(CRB1):c.2806G>A (p.Gly936Arg)
NM_201253.3(CRB1):c.2839G>A (p.Glu947Lys) rs574162883
NM_201253.3(CRB1):c.2980A>G (p.Lys994Glu) rs2125499116
NM_201253.3(CRB1):c.3007A>T (p.Ile1003Phe) rs910299744
NM_201253.3(CRB1):c.3100T>C (p.Trp1034Arg) rs1665062132
NM_201253.3(CRB1):c.3137C>T (p.Ser1046Phe) rs1665065652
NM_201253.3(CRB1):c.3203C>A (p.Thr1068Asn) rs1452661857
NM_201253.3(CRB1):c.351C>G (p.Asn117Lys) rs794727317
NM_201253.3(CRB1):c.3535G>A (p.Asp1179Asn)
NM_201253.3(CRB1):c.3559A>T (p.Ile1187Phe) rs371586216
NM_201253.3(CRB1):c.355T>G (p.Cys119Gly) rs1658671611
NM_201253.3(CRB1):c.3564T>G (p.His1188Gln) rs376271122
NM_201253.3(CRB1):c.371T>A (p.Ile124Asn) rs886045783
NM_201253.3(CRB1):c.3824C>G (p.Thr1275Arg)
NM_201253.3(CRB1):c.3848G>A (p.Cys1283Tyr) rs1665279435
NM_201253.3(CRB1):c.3857G>A (p.Arg1286Gln)
NM_201253.3(CRB1):c.4106C>A (p.Thr1369Asn) rs1667262233
NM_201253.3(CRB1):c.4151A>G (p.Gln1384Arg)
NM_201253.3(CRB1):c.4163G>A (p.Gly1388Asp) rs765740058
NM_201253.3(CRB1):c.4205T>C (p.Met1402Thr) rs767920858
NM_201253.3(CRB1):c.635G>A (p.Cys212Tyr) rs1658699227
NM_201253.3(CRB1):c.796T>A (p.Cys266Ser) rs1659650891
NM_201253.3(CRB1):c.862T>C (p.Cys288Arg) rs1571877872
NM_206933.4(USH2A):c.10013C>T (p.Ser3338Leu) rs746870063
NM_206933.4(USH2A):c.10175T>A (p.Met3392Lys) rs757682417
NM_206933.4(USH2A):c.10256_10262delinsCATTTGCACTGTGCAGTGA (p.Asn3419_Thr3421delinsThrPheAlaLeuCysSerAsp) rs1558097546
NM_206933.4(USH2A):c.10265G>A (p.Ser3422Asn) rs773660267
NM_206933.4(USH2A):c.10415A>G (p.Tyr3472Cys) rs1553261469
NM_206933.4(USH2A):c.1041T>C (p.Asp347=) rs2102655884
NM_206933.4(USH2A):c.10474G>T (p.Ala3492Ser) rs771610821
NM_206933.4(USH2A):c.10526A>G (p.Lys3509Arg) rs2102763446
NM_206933.4(USH2A):c.10595T>C (p.Ile3532Thr)
NM_206933.4(USH2A):c.10628G>A (p.Arg3543His)
NM_206933.4(USH2A):c.10631T>C (p.Phe3544Ser) rs2102762754
NM_206933.4(USH2A):c.10667G>A (p.Gly3556Glu) rs397517968
NM_206933.4(USH2A):c.1069A>G (p.Asn357Asp) rs144560419
NM_206933.4(USH2A):c.10740G>C (p.Lys3580Asn) rs369507534
NM_206933.4(USH2A):c.10855G>A (p.Val3619Ile)
NM_206933.4(USH2A):c.10878G>T (p.Arg3626Ser)
NM_206933.4(USH2A):c.10993G>A (p.Gly3665Arg)
NM_206933.4(USH2A):c.11072T>A (p.Ile3691Asn) rs2102742330
NM_206933.4(USH2A):c.11156G>T (p.Arg3719Leu) rs527236139
NM_206933.4(USH2A):c.11168T>G (p.Leu3723Trp) rs928040621
NM_206933.4(USH2A):c.11203A>T (p.Thr3735Ser)
NM_206933.4(USH2A):c.11215C>G (p.Leu3739Val) rs2102742157
NM_206933.4(USH2A):c.1142A>G (p.Gln381Arg) rs1553250774
NM_206933.4(USH2A):c.11537C>T (p.Ala3846Val) rs1553257673
NM_206933.4(USH2A):c.11594C>A (p.Ala3865Glu) rs1064797132
NM_206933.4(USH2A):c.11649A>G (p.Ile3883Met) rs397517975
NM_206933.4(USH2A):c.11687TCA[2] (p.Ile3898del) rs727504714
NM_206933.4(USH2A):c.11711G>A (p.Arg3904Lys)
NM_206933.4(USH2A):c.11728G>C (p.Glu3910Gln) rs1436435041
NM_206933.4(USH2A):c.11824G>A (p.Val3942Ile) rs1659890930
NM_206933.4(USH2A):c.12022G>A (p.Asp4008Asn) rs866937010
NM_206933.4(USH2A):c.12088C>G (p.Leu4030Val) rs141528682
NM_206933.4(USH2A):c.12118C>T (p.Arg4040Cys)
NM_206933.4(USH2A):c.12194C>T (p.Ser4065Phe)
NM_206933.4(USH2A):c.12199A>C (p.Ser4067Arg)
NM_206933.4(USH2A):c.12299ACA[1] (p.Asn4101del) rs1657997491
NM_206933.4(USH2A):c.12419G>T (p.Cys4140Phe) rs1064797131
NM_206933.4(USH2A):c.1246G>A (p.Ala416Thr) rs187897763
NM_206933.4(USH2A):c.1246G>T (p.Ala416Ser) rs187897763
NM_206933.4(USH2A):c.12484A>G (p.Thr4162Ala) rs1363933493
NM_206933.4(USH2A):c.12560G>T (p.Arg4187Leu) rs147304271
NM_206933.4(USH2A):c.12586G>A (p.Glu4196Lys) rs770065010
NM_206933.4(USH2A):c.1259G>A (p.Gly420Asp)
NM_206933.4(USH2A):c.12611_12612inv (p.Thr4204Met)
NM_206933.4(USH2A):c.12877G>A (p.Gly4293Ser) rs727505117
NM_206933.4(USH2A):c.12889T>C (p.Ser4297Pro) rs1553252463
NM_206933.4(USH2A):c.12940G>A (p.Val4314Met)
NM_206933.4(USH2A):c.12973C>G (p.Pro4325Ala) rs1657955894
NM_206933.4(USH2A):c.13126T>G (p.Trp4376Gly) rs775490668
NM_206933.4(USH2A):c.13165T>C (p.Tyr4389His) rs2102665721
NM_206933.4(USH2A):c.131G>A (p.Gly44Glu) rs2039690182
NM_206933.4(USH2A):c.13312T>C (p.Trp4438Arg) rs372802465
NM_206933.4(USH2A):c.13414G>A (p.Gly4472Ser) rs1657932443
NM_206933.4(USH2A):c.13567G>T (p.Val4523Phe) rs746442849
NM_206933.4(USH2A):c.13625C>G (p.Ala4542Gly) rs775560370
NM_206933.4(USH2A):c.13633C>T (p.Pro4545Ser) rs2102664812
NM_206933.4(USH2A):c.13811+3A>G rs760716728
NM_206933.4(USH2A):c.13894C>T (p.Pro4632Ser)
NM_206933.4(USH2A):c.14146A>G (p.Asn4716Asp) rs2102645078
NM_206933.4(USH2A):c.14475T>A (p.His4825Gln)
NM_206933.4(USH2A):c.14632T>G (p.Cys4878Gly) rs779400517
NM_206933.4(USH2A):c.14635A>G (p.Thr4879Ala) rs745580452
NM_206933.4(USH2A):c.14917G>A (p.Val4973Met)
NM_206933.4(USH2A):c.15001G>A (p.Glu5001Lys)
NM_206933.4(USH2A):c.15044C>T (p.Thr5015Ile) rs1029854359
NM_206933.4(USH2A):c.1516TAT[1] (p.Tyr507del) rs1553250595
NM_206933.4(USH2A):c.15172T>C (p.Phe5058Leu)
NM_206933.4(USH2A):c.1522G>A (p.Ala508Thr) rs397517999
NM_206933.4(USH2A):c.15298-18_15301dup rs1553248238
NM_206933.4(USH2A):c.15307G>A (p.Asp5103Asn)
NM_206933.4(USH2A):c.15322C>T (p.Arg5108Trp) rs746098518
NM_206933.4(USH2A):c.15373C>T (p.Arg5125Cys)
NM_206933.4(USH2A):c.15479A>G (p.Asn5160Ser)
NM_206933.4(USH2A):c.15526G>A (p.Asp5176Asn) rs774383785
NM_206933.4(USH2A):c.15577del (p.Glu5193fs) rs1553313073
NM_206933.4(USH2A):c.1571C>T (p.Ala524Val) rs772624410
NM_206933.4(USH2A):c.1580G>T (p.Cys527Phe) rs755735339
NM_206933.4(USH2A):c.1644+5G>C rs1558036810
NM_206933.4(USH2A):c.1645T>A (p.Cys549Ser) rs1064797139
NM_206933.4(USH2A):c.1648G>C (p.Asp550His) rs727504805
NM_206933.4(USH2A):c.1832A>C (p.Asn611Thr) rs2102610653
NM_206933.4(USH2A):c.188G>C (p.Arg63Pro) rs369806765
NM_206933.4(USH2A):c.1891G>C (p.Asp631His) rs552400144
NM_206933.4(USH2A):c.2081G>C (p.Cys694Ser) rs137954284
NM_206933.4(USH2A):c.2087G>T (p.Cys696Phe) rs1352007983
NM_206933.4(USH2A):c.2185T>C (p.Cys729Arg) rs2102546492
NM_206933.4(USH2A):c.2309AAG[1] (p.Glu771del) rs1553320519
NM_206933.4(USH2A):c.253A>G (p.Ile85Val) rs770983063
NM_206933.4(USH2A):c.2750G>A (p.Ser917Asn) rs776323626
NM_206933.4(USH2A):c.2942G>A (p.Arg981His)
NM_206933.4(USH2A):c.3008A>G (p.Asn1003Ser) rs2035366945
NM_206933.4(USH2A):c.3026C>A (p.Ala1009Asp) rs150729680
NM_206933.4(USH2A):c.3026C>G (p.Ala1009Gly)
NM_206933.4(USH2A):c.3109C>T (p.Pro1037Ser) rs1396798963
NM_206933.4(USH2A):c.313_321del (p.Leu105_Ser107del) rs1396847135
NM_206933.4(USH2A):c.3170A>G (p.Gln1057Arg) rs111033377
NM_206933.4(USH2A):c.3316+6T>C rs373631038
NM_206933.4(USH2A):c.349C>T (p.His117Tyr)
NM_206933.4(USH2A):c.3596_3598del (p.Glu1199del) rs1294733964
NM_206933.4(USH2A):c.3680G>C (p.Gly1227Ala)
NM_206933.4(USH2A):c.3724C>T (p.Pro1242Ser) rs755849364
NM_206933.4(USH2A):c.3809A>G (p.Asn1270Ser)
NM_206933.4(USH2A):c.3820A>G (p.Ile1274Val)
NM_206933.4(USH2A):c.3884G>A (p.Arg1295Gln) rs372993160
NM_206933.4(USH2A):c.3884G>T (p.Arg1295Leu) rs372993160
NM_206933.4(USH2A):c.4024G>C (p.Val1342Leu) rs778505422
NM_206933.4(USH2A):c.4027A>C (p.Asn1343His) rs754634823
NM_206933.4(USH2A):c.410C>T (p.Ser137Phe)
NM_206933.4(USH2A):c.4129T>A (p.Ser1377Thr) rs2102460604
NM_206933.4(USH2A):c.4136A>G (p.Asn1379Ser) rs752569816
NM_206933.4(USH2A):c.4251+3A>G rs1181655123
NM_206933.4(USH2A):c.4251G>T (p.Gln1417His) rs2102460239
NM_206933.4(USH2A):c.4282T>C (p.Ser1428Pro) rs369185265
NM_206933.4(USH2A):c.4558A>T (p.Ile1520Phe) rs770790346
NM_206933.4(USH2A):c.4744C>T (p.Leu1582Phe) rs866592573
NM_206933.4(USH2A):c.5047A>G (p.Asn1683Asp) rs2102561202
NM_206933.4(USH2A):c.5167+4A>G rs397518019
NM_206933.4(USH2A):c.5255T>G (p.Leu1752Trp) rs1469348824
NM_206933.4(USH2A):c.5273A>G (p.Asn1758Ser)
NM_206933.4(USH2A):c.5282G>A (p.Gly1761Glu) rs2102559662
NM_206933.4(USH2A):c.5471C>T (p.Ser1824Leu) rs748792761
NM_206933.4(USH2A):c.5479G>A (p.Gly1827Arg)
NM_206933.4(USH2A):c.5504C>T (p.Ser1835Leu) rs199645514
NM_206933.4(USH2A):c.5653A>G (p.Arg1885Gly)
NM_206933.4(USH2A):c.5666A>G (p.Asp1889Gly) rs775803174
NM_206933.4(USH2A):c.5708A>G (p.Asn1903Ser) rs1162070622
NM_206933.4(USH2A):c.5726A>T (p.Tyr1909Phe) rs761586978
NM_206933.4(USH2A):c.5775A>G (p.Thr1925=) rs747419030
NM_206933.4(USH2A):c.5813G>T (p.Gly1938Val) rs2031607385
NM_206933.4(USH2A):c.5819T>C (p.Val1940Ala) rs2031607129
NM_206933.4(USH2A):c.5959T>A (p.Tyr1987Asn) rs747652397
NM_206933.4(USH2A):c.598G>C (p.Val200Leu) rs781022362
NM_206933.4(USH2A):c.6047C>A (p.Thr2016Lys)
NM_206933.4(USH2A):c.6083A>G (p.Tyr2028Cys)
NM_206933.4(USH2A):c.6134A>T (p.His2045Leu) rs111033514
NM_206933.4(USH2A):c.6163G>A (p.Ala2055Thr) rs768233523
NM_206933.4(USH2A):c.6167_6169del (p.Pro2056del) rs776262139
NM_206933.4(USH2A):c.6253A>G (p.Ile2085Val)
NM_206933.4(USH2A):c.6511G>A (p.Gly2171Arg) rs1668203744
NM_206933.4(USH2A):c.6874C>T (p.Arg2292Cys) rs727503722
NM_206933.4(USH2A):c.6971C>T (p.Thr2324Ile) rs1667318951
NM_206933.4(USH2A):c.7028G>A (p.Arg2343Gln)
NM_206933.4(USH2A):c.706C>A (p.Pro236Thr) rs762558966
NM_206933.4(USH2A):c.7100G>A (p.Gly2367Glu) rs1017425051
NM_206933.4(USH2A):c.7225A>C (p.Thr2409Pro) rs2102499658
NM_206933.4(USH2A):c.7238A>C (p.Asn2413Thr) rs780840434
NM_206933.4(USH2A):c.7340_7348del (p.Thr2447_Thr2449del) rs1665478442
NM_206933.4(USH2A):c.7348A>C (p.Ser2450Arg)
NM_206933.4(USH2A):c.736A>G (p.Ile246Val) rs746975879
NM_206933.4(USH2A):c.7397C>T (p.Ser2466Phe) rs1665475399
NM_206933.4(USH2A):c.7452G>T (p.Glu2484Asp) rs397518031
NM_206933.4(USH2A):c.7526G>A (p.Arg2509Gln)
NM_206933.4(USH2A):c.7633A>G (p.Lys2545Glu) rs774559456
NM_206933.4(USH2A):c.7684G>T (p.Val2562Phe) rs397518033
NM_206933.4(USH2A):c.7765C>G (p.His2589Asp) rs747492773
NM_206933.4(USH2A):c.7939C>T (p.Pro2647Ser) rs1414367127
NM_206933.4(USH2A):c.8275A>G (p.Ile2759Val)
NM_206933.4(USH2A):c.8318C>T (p.Ser2773Phe) rs1413784848
NM_206933.4(USH2A):c.836C>A (p.Ala279Glu) rs2102658782
NM_206933.4(USH2A):c.8393G>C (p.Gly2798Ala) rs886044303
NM_206933.4(USH2A):c.854T>C (p.Ile285Thr) rs397518038
NM_206933.4(USH2A):c.85T>A (p.Ser29Thr)
NM_206933.4(USH2A):c.8783G>A (p.Gly2928Glu)
NM_206933.4(USH2A):c.8845+6_8845+9del rs541344995
NM_206933.4(USH2A):c.8992T>C (p.Ser2998Pro) rs886043586
NM_206933.4(USH2A):c.9014G>C (p.Ser3005Thr) rs1553268568
NM_206933.4(USH2A):c.907C>T (p.Arg303Cys)
NM_206933.4(USH2A):c.9127_9129del (p.Pro3043del) rs760448755
NM_206933.4(USH2A):c.9275T>G (p.Ile3092Arg) rs373286445
NM_206933.4(USH2A):c.9335_9358del (p.Asp3112_Arg3119del) rs773379163
NM_206933.4(USH2A):c.9413G>C (p.Gly3138Ala) rs756163056
NM_206933.4(USH2A):c.950G>A (p.Arg317Gln) rs760741238
NM_206933.4(USH2A):c.9527_9529del (p.Pro3176_Glu3177delinsGln) rs1553265812
NM_206933.4(USH2A):c.9773G>A (p.Arg3258Gln)
NM_206933.4(USH2A):c.9803G>A (p.Cys3268Tyr) rs1662225145
NM_206933.4(USH2A):c.9813G>T (p.Met3271Ile) rs137876918
NM_206933.4(USH2A):c.9962T>C (p.Met3321Thr) rs2102770144

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