ClinVar Miner

List of variants studied for Occult macular dystrophy

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ClinVar version:
Total variants: 446
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HGVS dbSNP gnomAD frequency
NM_178857.6(RP1L1):c.4401G>T (p.Arg1467Ser) rs4840498 0.94637
NM_178857.6(RP1L1):c.5837C>A (p.Ala1946Glu) rs11785822 0.92448
NM_178857.6(RP1L1):c.1791C>T (p.Gly597=) rs6996950 0.83140
NM_178857.6(RP1L1):c.3436C>T (p.Arg1146Trp) rs4840502 0.70110
NM_178857.6(RP1L1):c.*461T>G rs7816990 0.66630
NM_178857.6(RP1L1):c.-123C>G rs9969466 0.57812
NM_178857.6(RP1L1):c.5860A>G (p.Thr1954Ala) rs11783478 0.55174
NM_178857.6(RP1L1):c.6723A>G (p.Ser2241=) rs56382513 0.55050
NM_178857.6(RP1L1):c.2375T>C (p.Leu792Pro) rs35602868 0.45034
NM_178857.6(RP1L1):c.3956C>G (p.Ala1319Gly) rs4840501 0.44121
NM_178857.6(RP1L1):c.5126C>T (p.Ala1709Val) rs13267180 0.42095
NM_178857.6(RP1L1):c.1540G>A (p.Gly514Ser) rs74990397 0.41802
NM_178857.6(RP1L1):c.6853G>A (p.Gly2285Arg) rs55642448 0.41338
NM_178857.6(RP1L1):c.*98C>T rs12542104 0.41303
NM_178857.6(RP1L1):c.6511G>A (p.Glu2171Lys) rs4354268 0.40064
NM_178857.6(RP1L1):c.4032A>G (p.Thr1344=) rs4840499 0.34398
NM_178857.6(RP1L1):c.4019A>G (p.Glu1340Gly) rs9657518 0.28032
NM_178857.6(RP1L1):c.4484C>G (p.Pro1495Arg) rs4841399 0.28031
NM_178857.6(RP1L1):c.5666A>T (p.Asp1889Val) rs28446662 0.22939
NM_178857.6(RP1L1):c.335C>G (p.Thr112Ser) rs6601495 0.20510
NM_178857.6(RP1L1):c.665A>C (p.His222Pro) rs4388421 0.17875
NM_178857.6(RP1L1):c.*335T>G rs58309857 0.14841
NM_178857.6(RP1L1):c.*330T>G rs60196627 0.14832
NM_178857.6(RP1L1):c.4004G>T (p.Gly1335Val) rs74366179 0.14443
NM_178857.6(RP1L1):c.4020A>G (p.Glu1340=) rs78920388 0.14210
NM_178857.6(RP1L1):c.6209A>T (p.Glu2070Val) rs11782670 0.12322
NM_178857.6(RP1L1):c.2268C>T (p.Asn756=) rs57819090 0.12251
NM_178857.6(RP1L1):c.*226G>C rs12547192 0.12212
NM_178857.6(RP1L1):c.*199C>T rs12542075 0.12197
NM_178857.6(RP1L1):c.*244C>T rs12542071 0.12172
NM_178857.6(RP1L1):c.4448C>T (p.Ala1483Val) rs62490855 0.12093
NM_178857.6(RP1L1):c.2578C>T (p.Arg860Trp) rs62490856 0.11995
NM_178857.6(RP1L1):c.6456T>G (p.Asp2152Glu) rs192863038 0.11752
NM_178857.6(RP1L1):c.6264G>T (p.Gln2088His) rs11778341 0.11690
NM_178857.6(RP1L1):c.610-13G>A rs62490859 0.09888
NM_178857.6(RP1L1):c.3981A>G (p.Thr1327=) rs112656102 0.08193
NM_178857.6(RP1L1):c.3972A>G (p.Glu1324=) rs4840500 0.08185
NM_178857.6(RP1L1):c.3982G>A (p.Glu1328Lys) rs141046710 0.06937
NM_178857.6(RP1L1):c.2316G>A (p.Ser772=) rs62490857 0.06776
NM_178857.6(RP1L1):c.1460C>T (p.Ala487Val) rs74400517 0.06746
NM_178857.6(RP1L1):c.3979A>G (p.Thr1327Ala) rs139405108 0.05322
NM_178857.6(RP1L1):c.6596C>T (p.Pro2199Leu) rs75797924 0.04990
NM_178857.6(RP1L1):c.5447G>A (p.Gly1816Asp) rs79019225 0.03567
NM_178857.6(RP1L1):c.5519C>G (p.Ala1840Gly) rs77968698 0.03533
NM_178857.6(RP1L1):c.3961C>G (p.Gln1321Glu) rs200373757 0.03198
NM_178857.6(RP1L1):c.7004A>G (p.His2335Arg) rs117007660 0.03149
NM_178857.6(RP1L1):c.4003G>A (p.Gly1335Arg) rs61503212 0.02991
NM_178857.6(RP1L1):c.5997T>C (p.Asp1999=) rs78593181 0.02410
NM_178857.6(RP1L1):c.6718G>C (p.Glu2240Gln) rs80000074 0.02346
NM_178857.6(RP1L1):c.6674C>T (p.Pro2225Leu) rs74968439 0.02342
NM_178857.6(RP1L1):c.844A>C (p.Asn282His) rs75814156 0.02124
NM_178857.6(RP1L1):c.*27del rs143284016 0.02027
NM_178857.6(RP1L1):c.1478G>A (p.Arg493Gln) rs79401306 0.02007
NM_178857.6(RP1L1):c.2172G>A (p.Ser724=) rs73662876 0.01891
NM_178857.6(RP1L1):c.2780C>A (p.Thr927Asn) rs77230188 0.01852
NM_178857.6(RP1L1):c.33G>A (p.Pro11=) rs80059299 0.01638
NM_178857.6(RP1L1):c.547G>A (p.Gly183Ser) rs115126172 0.01518
NM_178857.6(RP1L1):c.*356C>G rs79353166 0.01403
NM_178857.6(RP1L1):c.850C>G (p.Pro284Ala) rs76756822 0.01307
NM_178857.6(RP1L1):c.501A>G (p.Thr167=) rs79329877 0.01208
NM_178857.6(RP1L1):c.4091G>C (p.Gly1364Ala) rs116752225 0.01122
NM_178857.6(RP1L1):c.2620G>A (p.Gly874Ser) rs12114682 0.01105
NM_178857.6(RP1L1):c.5761A>C (p.Ser1921Arg) rs149704659 0.01088
NM_178857.6(RP1L1):c.1779G>A (p.Thr593=) rs78127667 0.00995
NM_178857.6(RP1L1):c.4620G>C (p.Glu1540Asp) rs115884793 0.00966
NM_178857.6(RP1L1):c.130C>G (p.Pro44Ala) rs140397694 0.00956
NM_178857.6(RP1L1):c.6816C>T (p.Val2272=) rs74638396 0.00932
NM_178857.6(RP1L1):c.1691C>G (p.Ser564Cys) rs77585543 0.00860
NM_178857.6(RP1L1):c.*332G>A rs145601298 0.00794
NM_178857.6(RP1L1):c.6291A>G (p.Glu2097=) rs766503602 0.00737
NM_178857.6(RP1L1):c.4478C>T (p.Ala1493Val) rs138261433 0.00697
NM_178857.6(RP1L1):c.4865G>A (p.Arg1622Gln) rs151260617 0.00629
NM_178857.6(RP1L1):c.420C>A (p.Gly140=) rs79465957 0.00615
NM_178857.6(RP1L1):c.4105G>A (p.Glu1369Lys) rs116242305 0.00613
NM_178857.6(RP1L1):c.6545C>A (p.Ala2182Asp) rs183570817 0.00545
NM_178857.6(RP1L1):c.4031C>T (p.Thr1344Ile) rs201309656 0.00533
NM_178857.6(RP1L1):c.3955G>A (p.Ala1319Thr) rs73201156 0.00515
NM_178857.6(RP1L1):c.4028A>T (p.Glu1343Val) rs760625445 0.00494
NM_178857.6(RP1L1):c.2398C>A (p.Pro800Thr) rs142820770 0.00472
NM_178857.6(RP1L1):c.6344G>A (p.Gly2115Asp) rs139374902 0.00407
NM_178857.6(RP1L1):c.5421C>G (p.Gly1807=) rs77593247 0.00385
NM_178857.6(RP1L1):c.*513G>C rs181865746 0.00378
NM_178857.6(RP1L1):c.*444T>A rs530449457 0.00377
NM_178857.6(RP1L1):c.1870G>A (p.Ala624Thr) rs141846905 0.00377
NM_178857.6(RP1L1):c.6916T>A (p.Trp2306Arg) rs200403049 0.00377
NM_178857.6(RP1L1):c.1320C>T (p.His440=) rs137914071 0.00348
NM_178857.6(RP1L1):c.4044A>G (p.Gly1348=) rs13253055 0.00337
NM_178857.6(RP1L1):c.4046A>T (p.Gln1349Leu) rs13253053 0.00333
NM_178857.6(RP1L1):c.814C>G (p.Pro272Ala) rs77833234 0.00314
NM_178857.6(RP1L1):c.6812C>G (p.Pro2271Arg) rs183232880 0.00297
NM_178857.6(RP1L1):c.2238G>A (p.Ser746=) rs190077685 0.00294
NM_178857.6(RP1L1):c.4906G>A (p.Glu1636Lys) rs80094376 0.00276
NM_178857.6(RP1L1):c.-165G>A rs550213627 0.00261
NM_178857.6(RP1L1):c.2644C>T (p.Arg882Trp) rs148936402 0.00253
NM_178857.6(RP1L1):c.407G>A (p.Arg136His) rs189960401 0.00242
NM_178857.6(RP1L1):c.7047T>C (p.Thr2349=) rs202213014 0.00218
NM_178857.6(RP1L1):c.2977G>A (p.Asp993Asn) rs144078596 0.00217
NM_178857.6(RP1L1):c.3554G>A (p.Gly1185Glu) rs75613131 0.00217
NM_178857.6(RP1L1):c.32C>T (p.Pro11Leu) rs199642627 0.00215
NM_178857.6(RP1L1):c.444T>G (p.Leu148=) rs112609335 0.00208
NM_178857.6(RP1L1):c.4953G>A (p.Ala1651=) rs79563676 0.00207
NM_178857.6(RP1L1):c.273C>T (p.Ser91=) rs201810499 0.00200
NM_178857.6(RP1L1):c.5618A>T (p.Asp1873Val) rs200622636 0.00199
NM_178857.6(RP1L1):c.1138G>A (p.Gly380Arg) rs184332984 0.00198
NM_178857.6(RP1L1):c.4444G>A (p.Gly1482Arg) rs190000469 0.00195
NM_178857.6(RP1L1):c.5577T>G (p.Asp1859Glu) rs527932965 0.00195
NM_178857.6(RP1L1):c.4797G>T (p.Leu1599=) rs368140961 0.00194
NM_178857.6(RP1L1):c.6992C>T (p.Thr2331Met) rs147334256 0.00192
NM_178857.6(RP1L1):c.899C>T (p.Ser300Leu) rs200642524 0.00172
NM_178857.6(RP1L1):c.1297C>T (p.Arg433Cys) rs199589914 0.00168
NM_178857.6(RP1L1):c.1795G>A (p.Glu599Lys) rs150491290 0.00160
NM_178857.6(RP1L1):c.217C>T (p.Pro73Ser) rs202082944 0.00158
NM_178857.6(RP1L1):c.568C>T (p.Arg190Cys) rs202110498 0.00158
NM_178857.6(RP1L1):c.3263C>T (p.Ala1088Val) rs200477735 0.00145
NM_178857.6(RP1L1):c.2899G>A (p.Glu967Lys) rs201302817 0.00141
NM_178857.6(RP1L1):c.2319G>A (p.Pro773=) rs376509567 0.00130
NM_178857.6(RP1L1):c.3067G>C (p.Glu1023Gln) rs201996553 0.00125
NM_178857.6(RP1L1):c.5959C>T (p.Gln1987Ter) rs200846354 0.00124
NM_178857.6(RP1L1):c.2923T>A (p.Leu975Met) rs146002320 0.00116
NM_178857.6(RP1L1):c.156C>T (p.Ala52=) rs78501382 0.00112
NM_178857.6(RP1L1):c.326_327insT (p.Lys111fs) rs771427543 0.00106
NM_178857.6(RP1L1):c.5138C>A (p.Thr1713Asn) rs200130856 0.00104
NM_178857.6(RP1L1):c.4323G>A (p.Pro1441=) rs199802369 0.00103
NM_178857.6(RP1L1):c.4514C>T (p.Ser1505Leu) rs202068070 0.00096
NM_178857.6(RP1L1):c.1599G>A (p.Ser533=) rs201785951 0.00087
NM_178857.6(RP1L1):c.652G>T (p.Val218Leu) rs77679870 0.00087
NM_178857.6(RP1L1):c.5713G>A (p.Gly1905Ser) rs202121941 0.00084
NM_178857.6(RP1L1):c.2643C>T (p.Ala881=) rs374382227 0.00081
NM_178857.6(RP1L1):c.2383G>A (p.Glu795Lys) rs199746022 0.00080
NM_178857.6(RP1L1):c.2154C>A (p.Asn718Lys) rs181556707 0.00079
NM_178857.6(RP1L1):c.3514C>A (p.Leu1172Ile) rs143870426 0.00076
NM_178857.6(RP1L1):c.1434C>T (p.Asp478=) rs138367868 0.00075
NM_178857.6(RP1L1):c.5452G>A (p.Ala1818Thr) rs199701906 0.00073
NM_178857.6(RP1L1):c.3255C>G (p.Ile1085Met) rs150752593 0.00069
NM_178857.6(RP1L1):c.249A>G (p.Thr83=) rs201392821 0.00067
NM_178857.6(RP1L1):c.3027G>A (p.Ala1009=) rs201640796 0.00061
NM_178857.6(RP1L1):c.4061C>T (p.Ala1354Val) rs201532540 0.00061
NM_178857.6(RP1L1):c.5996A>G (p.Asp1999Gly) rs868859888 0.00061
NM_178857.6(RP1L1):c.1128C>G (p.Phe376Leu) rs372681428 0.00057
NM_178857.6(RP1L1):c.3200G>C (p.Gly1067Ala) rs201393573 0.00057
NM_178857.6(RP1L1):c.324_325insT (p.Pro109fs) rs138816053 0.00057
NM_178857.6(RP1L1):c.6600G>A (p.Glu2200=) rs192990137 0.00053
NM_178857.6(RP1L1):c.4056A>G (p.Glu1352=) rs879146130 0.00051
NM_178857.6(RP1L1):c.1273A>C (p.Arg425=) rs377274495 0.00049
NM_178857.6(RP1L1):c.77C>T (p.Ser26Leu) rs185749010 0.00049
NM_178857.6(RP1L1):c.6586A>G (p.Ile2196Val) rs200407750 0.00047
NM_178857.6(RP1L1):c.-153C>A rs570111920 0.00043
NM_178857.6(RP1L1):c.190C>T (p.Leu64Phe) rs202081611 0.00043
NM_178857.6(RP1L1):c.487C>G (p.Arg163Gly) rs187140236 0.00041
NM_178857.6(RP1L1):c.5284G>A (p.Glu1762Lys) rs141128719 0.00041
NM_178857.6(RP1L1):c.2583C>T (p.Pro861=) rs191393277 0.00040
NM_178857.6(RP1L1):c.1762G>T (p.Asp588Tyr) rs200344135 0.00038
NM_178857.6(RP1L1):c.4004_4005insT (p.Val1336fs) rs781490139 0.00036
NM_178857.6(RP1L1):c.622C>A (p.Gln208Lys) rs201753844 0.00035
NM_178857.6(RP1L1):c.198C>T (p.Asp66=) rs148800956 0.00034
NM_178857.6(RP1L1):c.6159C>T (p.Asp2053=) rs368139274 0.00034
NM_178857.6(RP1L1):c.906G>A (p.Pro302=) rs368862886 0.00033
NM_178857.6(RP1L1):c.5727G>A (p.Pro1909=) rs144541636 0.00032
NM_178857.6(RP1L1):c.954C>T (p.Asp318=) rs200317816 0.00031
NM_178857.6(RP1L1):c.6276G>A (p.Gly2092=) rs201438192 0.00030
NM_178857.6(RP1L1):c.2261C>T (p.Pro754Leu) rs377368052 0.00029
NM_178857.6(RP1L1):c.6237C>G (p.His2079Gln) rs201900673 0.00029
NM_178857.6(RP1L1):c.1035G>A (p.Arg345=) rs73201157 0.00027
NM_178857.6(RP1L1):c.6394A>G (p.Ile2132Val) rs771928895 0.00026
NM_178857.6(RP1L1):c.337C>T (p.Pro113Ser) rs201245739 0.00024
NM_178857.6(RP1L1):c.352C>T (p.Arg118Trp) rs200121539 0.00024
NM_178857.6(RP1L1):c.4062G>A (p.Ala1354=) rs375108865 0.00024
NM_178857.6(RP1L1):c.6611A>C (p.Glu2204Ala) rs200588941 0.00024
NM_178857.6(RP1L1):c.3201C>T (p.Gly1067=) rs200462441 0.00023
NM_178857.6(RP1L1):c.5793C>T (p.Asp1931=) rs747180512 0.00023
NM_178857.6(RP1L1):c.*307T>C rs146542491 0.00021
NM_178857.6(RP1L1):c.*38C>G rs374533327 0.00021
NM_178857.6(RP1L1):c.1290G>T (p.Gln430His) rs142459130 0.00021
NM_178857.6(RP1L1):c.67C>T (p.Arg23Cys) rs188979626 0.00021
NM_178857.6(RP1L1):c.6902C>G (p.Ser2301Cys) rs199631825 0.00020
NM_178857.6(RP1L1):c.213C>T (p.Arg71=) rs182267291 0.00019
NM_178857.6(RP1L1):c.6141T>G (p.Asp2047Glu) rs561890793 0.00019
NM_178857.6(RP1L1):c.2028C>G (p.Ser676Arg) rs200474804 0.00016
NM_178857.6(RP1L1):c.4275C>A (p.Asp1425Glu) rs182279724 0.00016
NM_178857.6(RP1L1):c.6644C>T (p.Pro2215Leu) rs187850525 0.00016
NM_178857.6(RP1L1):c.675C>T (p.Phe225=) rs886062585 0.00016
NM_178857.6(RP1L1):c.9C>T (p.Ser3=) rs367930443 0.00016
NM_178857.6(RP1L1):c.3691C>T (p.Pro1231Ser) rs201440296 0.00015
NM_178857.6(RP1L1):c.289G>C (p.Glu97Gln) rs142083988 0.00014
NM_178857.6(RP1L1):c.5348C>T (p.Ala1783Val) rs374403002 0.00014
NM_178857.6(RP1L1):c.*265G>T rs567494148 0.00013
NM_178857.6(RP1L1):c.2396C>T (p.Thr799Met) rs371519198 0.00012
NM_178857.6(RP1L1):c.2849G>A (p.Arg950His) rs201968725 0.00012
NM_178857.6(RP1L1):c.4594G>A (p.Ala1532Thr) rs200131312 0.00012
NM_178857.6(RP1L1):c.488G>A (p.Arg163His) rs182807255 0.00012
NM_178857.6(RP1L1):c.1605G>A (p.Ser535=) rs200772091 0.00011
NM_178857.6(RP1L1):c.2049C>T (p.Thr683=) rs146670053 0.00011
NM_178857.6(RP1L1):c.2751G>A (p.Ala917=) rs373883834 0.00011
NM_178857.6(RP1L1):c.3231C>G (p.Gly1077=) rs779905669 0.00011
NM_178857.6(RP1L1):c.3569C>T (p.Thr1190Met) rs200415537 0.00011
NM_178857.6(RP1L1):c.4482A>G (p.Gln1494=) rs201357374 0.00011
NM_178857.6(RP1L1):c.134G>A (p.Arg45Gln) rs770740394 0.00010
NM_178857.6(RP1L1):c.1555G>A (p.Gly519Ser) rs775657453 0.00010
NM_178857.6(RP1L1):c.1617C>T (p.Thr539=) rs370508607 0.00010
NM_178857.6(RP1L1):c.2456G>C (p.Gly819Ala) rs201576854 0.00010
NM_178857.6(RP1L1):c.2568G>A (p.Pro856=) rs367933781 0.00010
NM_178857.6(RP1L1):c.2732G>T (p.Ser911Ile) rs757352407 0.00010
NM_178857.6(RP1L1):c.4542C>T (p.Cys1514=) rs773430949 0.00010
NM_178857.6(RP1L1):c.793C>G (p.Arg265Gly) rs367838293 0.00010
NM_178857.6(RP1L1):c.2516G>A (p.Arg839Gln) rs375534027 0.00009
NM_178857.6(RP1L1):c.2850C>T (p.Arg950=) rs542085308 0.00009
NM_178857.6(RP1L1):c.4273G>C (p.Asp1425His) rs201205913 0.00009
NM_178857.6(RP1L1):c.5224G>A (p.Glu1742Lys) rs558895396 0.00009
NM_000539.3(RHO):c.173C>T (p.Thr58Met) rs28933394 0.00008
NM_178857.6(RP1L1):c.3286C>T (p.Arg1096Trp) rs375119596 0.00008
NM_178857.6(RP1L1):c.4837C>A (p.Leu1613Met) rs181095314 0.00008
NM_178857.6(RP1L1):c.6174G>A (p.Pro2058=) rs200660179 0.00008
NM_178857.6(RP1L1):c.6431A>C (p.Glu2144Ala) rs369287525 0.00008
NM_178857.6(RP1L1):c.*291C>T rs943409150 0.00007
NM_178857.6(RP1L1):c.117C>G (p.Leu39=) rs751004024 0.00007
NM_178857.6(RP1L1):c.2174G>T (p.Gly725Val) rs529460241 0.00007
NM_178857.6(RP1L1):c.2498C>T (p.Pro833Leu) rs562405102 0.00007
NM_178857.6(RP1L1):c.2845C>T (p.Pro949Ser) rs754126350 0.00007
NM_178857.6(RP1L1):c.292G>A (p.Asp98Asn) rs372108562 0.00007
NM_178857.6(RP1L1):c.6429T>A (p.Pro2143=) rs1274870244 0.00007
NM_178857.6(RP1L1):c.-208C>A rs753924039 0.00006
NM_178857.6(RP1L1):c.1067A>T (p.Asp356Val) rs750107135 0.00006
NM_178857.6(RP1L1):c.1268G>C (p.Arg423Pro) rs566321002 0.00006
NM_178857.6(RP1L1):c.2629C>T (p.His877Tyr) rs770403429 0.00006
NM_178857.6(RP1L1):c.2791G>C (p.Gly931Arg) rs200981366 0.00006
NM_178857.6(RP1L1):c.2928G>A (p.Ala976=) rs770072844 0.00006
NM_178857.6(RP1L1):c.3053C>A (p.Pro1018His) rs200191362 0.00006
NM_178857.6(RP1L1):c.3660C>T (p.Asp1220=) rs375441998 0.00006
NM_178857.6(RP1L1):c.40C>T (p.Arg14Cys) rs765708710 0.00006
NM_178857.6(RP1L1):c.4610C>T (p.Ala1537Val) rs375128393 0.00006
NM_178857.6(RP1L1):c.5326A>T (p.Thr1776Ser) rs199996267 0.00006
NM_178857.6(RP1L1):c.670G>A (p.Ala224Thr) rs117547822 0.00006
NM_178857.6(RP1L1):c.7097C>T (p.Ala2366Val) rs200330477 0.00006
NM_178857.6(RP1L1):c.792G>A (p.Ser264=) rs567914782 0.00006
NM_178857.6(RP1L1):c.1189C>T (p.Arg397Ter) rs371886218 0.00005
NM_178857.6(RP1L1):c.1378G>A (p.Gly460Ser) rs369924450 0.00005
NM_178857.6(RP1L1):c.2441A>G (p.Glu814Gly) rs190447684 0.00005
NM_178857.6(RP1L1):c.328C>T (p.Pro110Ser) rs773440242 0.00005
NM_178857.6(RP1L1):c.3340T>A (p.Ser1114Thr) rs559059729 0.00005
NM_178857.6(RP1L1):c.3743G>A (p.Gly1248Glu) rs370381949 0.00005
NM_178857.6(RP1L1):c.3914A>G (p.Glu1305Gly) rs762801175 0.00005
NM_178857.6(RP1L1):c.4577C>T (p.Thr1526Met) rs267601688 0.00005
NM_178857.6(RP1L1):c.5794G>A (p.Glu1932Lys) rs199991672 0.00005
NM_178857.6(RP1L1):c.6322G>A (p.Gly2108Arg) rs187998469 0.00005
NM_178857.6(RP1L1):c.*200G>A rs544642796 0.00004
NM_178857.6(RP1L1):c.122G>A (p.Arg41Gln) rs536131729 0.00004
NM_178857.6(RP1L1):c.2465G>A (p.Arg822Gln) rs750002050 0.00004
NM_178857.6(RP1L1):c.2469C>T (p.Ser823=) rs368842714 0.00004
NM_178857.6(RP1L1):c.253C>T (p.Arg85Trp) rs779469547 0.00004
NM_178857.6(RP1L1):c.4746G>A (p.Arg1582=) rs754155146 0.00004
NM_178857.6(RP1L1):c.6729A>T (p.Gly2243=) rs991330347 0.00004
NM_178857.6(RP1L1):c.905C>T (p.Pro302Leu) rs759951793 0.00004
NM_178857.6(RP1L1):c.967G>A (p.Val323Met) rs200724846 0.00004
NM_178857.6(RP1L1):c.1090C>G (p.Pro364Ala) rs372699223 0.00003
NM_178857.6(RP1L1):c.11C>A (p.Thr4Asn) rs754667501 0.00003
NM_178857.6(RP1L1):c.1587G>C (p.Glu529Asp) rs750105114 0.00003
NM_178857.6(RP1L1):c.1821A>C (p.Thr607=) rs760134129 0.00003
NM_178857.6(RP1L1):c.2991C>G (p.Asp997Glu) rs188482891 0.00003
NM_178857.6(RP1L1):c.3019G>A (p.Ala1007Thr) rs886062584 0.00003
NM_178857.6(RP1L1):c.3022C>G (p.Gln1008Glu) rs756996764 0.00003
NM_178857.6(RP1L1):c.3026C>T (p.Ala1009Val) rs751300307 0.00003
NM_178857.6(RP1L1):c.371C>T (p.Pro124Leu) rs570222177 0.00003
NM_178857.6(RP1L1):c.4198C>A (p.Pro1400Thr) rs201750918 0.00003
NM_178857.6(RP1L1):c.428C>T (p.Ser143Phe) rs774003548 0.00003
NM_178857.6(RP1L1):c.4788C>T (p.Thr1596=) rs536918805 0.00003
NM_178857.6(RP1L1):c.5483A>C (p.Gln1828Pro) rs772616971 0.00003
NM_178857.6(RP1L1):c.5598G>T (p.Glu1866Asp) rs181718385 0.00003
NM_178857.6(RP1L1):c.6063del (p.Asp2021fs) rs572305644 0.00003
NM_178857.6(RP1L1):c.6118G>T (p.Glu2040Ter) rs201774530 0.00003
NM_178857.6(RP1L1):c.940C>T (p.Arg314Cys) rs777582995 0.00003
NM_178857.6(RP1L1):c.-8C>T rs775803948 0.00002
NM_178857.6(RP1L1):c.1763A>G (p.Asp588Gly) rs770348021 0.00002
NM_178857.6(RP1L1):c.1980C>T (p.Ala660=) rs748540099 0.00002
NM_178857.6(RP1L1):c.2814G>T (p.Glu938Asp) rs772171734 0.00002
NM_178857.6(RP1L1):c.4027G>A (p.Glu1343Lys) rs991739068 0.00002
NM_178857.6(RP1L1):c.4674C>T (p.Ala1558=) rs372744963 0.00002
NM_178857.6(RP1L1):c.5117C>T (p.Ala1706Val) rs749241014 0.00002
NM_178857.6(RP1L1):c.5643A>G (p.Gly1881=) rs112534810 0.00002
NM_178857.6(RP1L1):c.5966C>T (p.Ala1989Val) rs749665716 0.00002
NM_178857.6(RP1L1):c.5967A>T (p.Ala1989=) rs780761304 0.00002
NM_178857.6(RP1L1):c.6043G>T (p.Glu2015Ter) rs184873506 0.00002
NM_178857.6(RP1L1):c.6136G>A (p.Gly2046Arg) rs748879695 0.00002
NM_178857.6(RP1L1):c.6307G>A (p.Ala2103Thr) rs762267136 0.00002
NM_178857.6(RP1L1):c.6689C>T (p.Thr2230Ile) rs573617450 0.00002
NM_178857.6(RP1L1):c.858C>T (p.Gly286=) rs757244182 0.00002
NM_178857.6(RP1L1):c.917G>C (p.Gly306Ala) rs761314438 0.00002
NM_178857.6(RP1L1):c.*122G>C rs551888547 0.00001
NM_178857.6(RP1L1):c.-226C>A rs888662577 0.00001
NM_178857.6(RP1L1):c.109A>G (p.Thr37Ala) rs755268691 0.00001
NM_178857.6(RP1L1):c.1271A>G (p.Lys424Arg) rs371110197 0.00001
NM_178857.6(RP1L1):c.133C>T (p.Arg45Trp) rs267607017 0.00001
NM_178857.6(RP1L1):c.1436G>A (p.Gly479Glu) rs867863562 0.00001
NM_178857.6(RP1L1):c.2037C>G (p.Asp679Glu) rs760621847 0.00001
NM_178857.6(RP1L1):c.2060C>T (p.Pro687Leu) rs775767928 0.00001
NM_178857.6(RP1L1):c.2157G>C (p.Leu719=) rs547631676 0.00001
NM_178857.6(RP1L1):c.2205C>T (p.Thr735=) rs769558246 0.00001
NM_178857.6(RP1L1):c.2315C>T (p.Ser772Leu) rs759011494 0.00001
NM_178857.6(RP1L1):c.2434C>T (p.Arg812Trp) rs761665772 0.00001
NM_178857.6(RP1L1):c.2435G>A (p.Arg812Gln) rs773952428 0.00001
NM_178857.6(RP1L1):c.2586C>T (p.Cys862=) rs1328808307 0.00001
NM_178857.6(RP1L1):c.2696C>T (p.Pro899Leu) rs779849753 0.00001
NM_178857.6(RP1L1):c.3194C>T (p.Pro1065Leu) rs774639195 0.00001
NM_178857.6(RP1L1):c.3484G>C (p.Asp1162His) rs557920637 0.00001
NM_178857.6(RP1L1):c.3638G>A (p.Ser1213Asn) rs1240908237 0.00001
NM_178857.6(RP1L1):c.45G>A (p.Glu15=) rs761396117 0.00001
NM_178857.6(RP1L1):c.4795C>G (p.Leu1599Val) rs201524117 0.00001
NM_178857.6(RP1L1):c.4971T>G (p.Cys1657Trp) rs748701232 0.00001
NM_178857.6(RP1L1):c.5281G>A (p.Gly1761Arg) rs764796563 0.00001
NM_178857.6(RP1L1):c.6380C>T (p.Pro2127Leu) rs375714703 0.00001
NM_178857.6(RP1L1):c.6468_6469dup (p.Ala2157fs) rs770652985 0.00001
NM_178857.6(RP1L1):c.6958C>T (p.Leu2320Phe) rs377646678 0.00001
NM_178857.6(RP1L1):c.6993G>A (p.Thr2331=) rs533478971 0.00001
NM_178857.6(RP1L1):c.7062G>C (p.Glu2354Asp) rs766768012 0.00001
NM_178857.6(RP1L1):c.7149C>A (p.Pro2383=) rs777397791 0.00001
NM_178857.6(RP1L1):c.919G>A (p.Asp307Asn) rs762473280 0.00001
NM_178857.6(RP1L1):c.960C>T (p.Ser320=) rs756449748 0.00001
NM_004055.5(CAPN5):c.728G>A (p.Arg243His)
NM_178857.6(RP1L1):c.*191C>G rs1797707312
NM_178857.6(RP1L1):c.*256G>A rs903135373
NM_178857.6(RP1L1):c.*266C>T rs557198895
NM_178857.6(RP1L1):c.*367C>T rs1797704318
NM_178857.6(RP1L1):c.*441A>C rs1797703496
NM_178857.6(RP1L1):c.*495G>A rs886062572
NM_178857.6(RP1L1):c.*99C>A rs886062573
NM_178857.6(RP1L1):c.-12A>C rs762179825
NM_178857.6(RP1L1):c.-143T>G rs989159394
NM_178857.6(RP1L1):c.-49G>A rs189109596
NM_178857.6(RP1L1):c.1007C>T (p.Thr336Met) rs201195142
NM_178857.6(RP1L1):c.1179A>G (p.Glu393=) rs1426543260
NM_178857.6(RP1L1):c.1203A>C (p.Pro401=) rs1797894376
NM_178857.6(RP1L1):c.1340G>C (p.Arg447Thr) rs771401456
NM_178857.6(RP1L1):c.1386C>T (p.Pro462=) rs75355484
NM_178857.6(RP1L1):c.1551A>G (p.Gln517=) rs761588903
NM_178857.6(RP1L1):c.1568C>A (p.Pro523Gln) rs1288132145
NM_178857.6(RP1L1):c.166C>A (p.Arg56Ser) rs150931842
NM_178857.6(RP1L1):c.166C>T (p.Arg56Cys) rs150931842
NM_178857.6(RP1L1):c.168C>A (p.Arg56=) rs187433303
NM_178857.6(RP1L1):c.1734C>T (p.Ala578=) rs755017588
NM_178857.6(RP1L1):c.1806G>C (p.Thr602=) rs374308509
NM_178857.6(RP1L1):c.1811C>T (p.Ala604Val) rs200118556
NM_178857.6(RP1L1):c.1835T>A (p.Val612Asp) rs1585968267
NM_178857.6(RP1L1):c.1862C>G (p.Ser621Trp) rs778222700
NM_178857.6(RP1L1):c.1916G>A (p.Arg639Lys) rs1797874259
NM_178857.6(RP1L1):c.2061G>C (p.Pro687=) rs200963001
NM_178857.6(RP1L1):c.2068C>G (p.Pro690Ala) rs1036667471
NM_178857.6(RP1L1):c.2116G>T (p.Gly706Ter)
NM_178857.6(RP1L1):c.2127G>A (p.Ser709=) rs367955605
NM_178857.6(RP1L1):c.2191G>A (p.Asp731Asn) rs768251529
NM_178857.6(RP1L1):c.2235C>T (p.His745=) rs1797864170
NM_178857.6(RP1L1):c.2365G>A (p.Ala789Thr) rs535712025
NM_178857.6(RP1L1):c.2399C>T (p.Pro800Leu) rs904894112
NM_178857.6(RP1L1):c.23C>G (p.Ala8Gly) rs886062587
NM_178857.6(RP1L1):c.2413C>G (p.Pro805Ala) rs753260358
NM_178857.6(RP1L1):c.2499G>A (p.Pro833=) rs373310698
NM_178857.6(RP1L1):c.24C>G (p.Ala8=) rs374965485
NM_178857.6(RP1L1):c.250C>T (p.Pro84Ser)
NM_178857.6(RP1L1):c.275C>T (p.Ala92Val) rs886062586
NM_178857.6(RP1L1):c.2848C>G (p.Arg950Gly) rs200245949
NM_178857.6(RP1L1):c.2848C>T (p.Arg950Cys) rs200245949
NM_178857.6(RP1L1):c.2878T>C (p.Trp960Arg) rs267607018
NM_178857.6(RP1L1):c.2915C>G (p.Thr972Arg) rs374466650
NM_178857.6(RP1L1):c.2954G>A (p.Gly985Asp) rs886258480
NM_178857.6(RP1L1):c.2992C>A (p.His998Asn) rs377428634
NM_178857.6(RP1L1):c.303C>G (p.Cys101Trp)
NM_178857.6(RP1L1):c.3122G>C (p.Gly1041Ala) rs570355453
NM_178857.6(RP1L1):c.3303C>G (p.Pro1101=) rs374612639
NM_178857.6(RP1L1):c.3303C>T (p.Pro1101=) rs374612639
NM_178857.6(RP1L1):c.3304G>C (p.Glu1102Gln) rs575772322
NM_178857.6(RP1L1):c.3378G>A (p.Gln1126=) rs886062583
NM_178857.6(RP1L1):c.3431C>G (p.Ser1144Cys) rs763480431
NM_178857.6(RP1L1):c.3582G>T (p.Thr1194=) rs200519322
NM_178857.6(RP1L1):c.3595T>G (p.Ser1199Ala) rs1797825562
NM_178857.6(RP1L1):c.3664A>G (p.Thr1222Ala) rs886062582
NM_178857.6(RP1L1):c.3732T>G (p.Tyr1244Ter) rs373278754
NM_178857.6(RP1L1):c.3836A>C (p.Asp1279Ala) rs886062581
NM_178857.6(RP1L1):c.3921A>G (p.Lys1307=) rs747175462
NM_178857.6(RP1L1):c.3944T>C (p.Leu1315Pro) rs759437518
NM_178857.6(RP1L1):c.3956C>T (p.Ala1319Val) rs4840501
NM_178857.6(RP1L1):c.3956_3957insAAGAAGAGAG (p.Val1320fs) rs773894295
NM_178857.6(RP1L1):c.3956delinsGGGTGCAGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAGAG (p.Ala1319delinsGlyValGlnLeuGluGluThrLysThrGluGluGlyLeuGlnGluGluArg) rs886062580
NM_178857.6(RP1L1):c.3970_3971insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG (p.Glu1323_Glu1324insGlyThrLysValIleGluGlyLeuGlnGluGluArgValGlnLeuGlu) rs369606728
NM_178857.6(RP1L1):c.3971A>G (p.Glu1324Gly) rs4240659
NM_178857.6(RP1L1):c.3978_3979insGAA (p.Lys1326_Thr1327insGlu) rs146656804
NM_178857.6(RP1L1):c.3980C>T (p.Thr1327Ile) rs143544262
NM_178857.6(RP1L1):c.3983A>T (p.Glu1328Val) rs141205444
NM_178857.6(RP1L1):c.4018_4019insGGACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGAGG (p.Glu1339_Glu1340insGlyThrLysThrGluGluGlyLeuGlnGluGluGlyValGlnLeuGlu) rs1585963477
NM_178857.6(RP1L1):c.4018_4019insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG (p.Glu1339_Glu1340insGlyThrLysValIleGluGlyLeuGlnGluGluArgValGlnLeuGlu) rs1585963467
NM_178857.6(RP1L1):c.4018_4019insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGAGG (p.Glu1339_Glu1340insGlyThrLysValIleGluGlyLeuGlnGluGluGlyValGlnLeuGlu) rs1585963475
NM_178857.6(RP1L1):c.4019_4027delinsGGACTA (p.Glu1340_Glu1343delinsGlyThrLys) rs886062579
NM_178857.6(RP1L1):c.4027_4029del (p.Glu1343del) rs143686100
NM_178857.6(RP1L1):c.4037_4039del (p.Gly1346del)
NM_178857.6(RP1L1):c.4038A>G (p.Gly1346=) rs1240760978
NM_178857.6(RP1L1):c.4058A>G (p.Glu1353Gly) rs747592079
NM_178857.6(RP1L1):c.4069G>A (p.Glu1357Lys) rs757271707
NM_178857.6(RP1L1):c.4088GAG[1] (p.Gly1364del) rs886062578
NM_178857.6(RP1L1):c.40C>G (p.Arg14Gly) rs765708710
NM_178857.6(RP1L1):c.416dup (p.Gly140fs) rs201192645
NM_178857.6(RP1L1):c.4198C>G (p.Pro1400Ala)
NM_178857.6(RP1L1):c.4223A>G (p.Gln1408Arg) rs758358467
NM_178857.6(RP1L1):c.4440G>A (p.Pro1480=) rs76720252
NM_178857.6(RP1L1):c.4440G>T (p.Pro1480=) rs76720252
NM_178857.6(RP1L1):c.449C>T (p.Thr150Ile) rs758699416
NM_178857.6(RP1L1):c.4522T>A (p.Cys1508Ser)
NM_178857.6(RP1L1):c.4662C>G (p.Asp1554Glu) rs374521681
NM_178857.6(RP1L1):c.4671G>A (p.Ala1557=) rs150438402
NM_178857.6(RP1L1):c.4732_4734dup (p.Lys1578dup) rs142134028
NM_178857.6(RP1L1):c.477C>A (p.Asn159Lys) rs769690517
NM_178857.6(RP1L1):c.4831C>G (p.Arg1611Gly) rs199604262
NM_178857.6(RP1L1):c.489C>A (p.Arg163=) rs201167741
NM_178857.6(RP1L1):c.4905C>T (p.Asp1635=) rs200540100
NM_178857.6(RP1L1):c.5033del (p.Ala1678fs) rs1797772026
NM_178857.6(RP1L1):c.5211G>A (p.Gly1737=) rs201594207
NM_178857.6(RP1L1):c.5589T>A (p.Ala1863=) rs199577777
NM_178857.6(RP1L1):c.5600C>A (p.Ala1867Asp) rs886062577
NM_178857.6(RP1L1):c.5618A>G (p.Asp1873Gly) rs200622636
NM_178857.6(RP1L1):c.5646G>T (p.Glu1882Asp) rs111646478
NM_178857.6(RP1L1):c.5652G>C (p.Gln1884His) rs372030347
NM_178857.6(RP1L1):c.568C>A (p.Arg190Ser) rs202110498
NM_178857.6(RP1L1):c.5771C>A (p.Ala1924Asp) rs774309647
NM_178857.6(RP1L1):c.5776G>T (p.Glu1926Ter) rs762800376
NM_178857.6(RP1L1):c.5821C>G (p.Gln1941Glu) rs201017122
NM_178857.6(RP1L1):c.5821C>T (p.Gln1941Ter) rs201017122
NM_178857.6(RP1L1):c.5876A>G (p.Glu1959Gly) rs1797749286
NM_178857.6(RP1L1):c.594G>A (p.Thr198=) rs778582315
NM_178857.6(RP1L1):c.5957C>T (p.Thr1986Ile) rs1797747127
NM_178857.6(RP1L1):c.6015T>A (p.Ala2005=) rs1204692440
NM_178857.6(RP1L1):c.6136G>T (p.Gly2046Trp) rs748879695
NM_178857.6(RP1L1):c.6258T>G (p.Asp2086Glu) rs1465387690
NM_178857.6(RP1L1):c.631C>T (p.Leu211=) rs780247256
NM_178857.6(RP1L1):c.6329C>T (p.Ala2110Val) rs886062576
NM_178857.6(RP1L1):c.6418G>A (p.Glu2140Lys) rs72494282
NM_178857.6(RP1L1):c.6469_6470delinsAA (p.Ala2157Asn) rs2117190218
NM_178857.6(RP1L1):c.6476C>T (p.Pro2159Leu) rs762951841
NM_178857.6(RP1L1):c.6522A>G (p.Gln2174=) rs780796353
NM_178857.6(RP1L1):c.6597A>G (p.Pro2199=) rs886062575
NM_178857.6(RP1L1):c.6603A>T (p.Ala2201=) rs886062574
NM_178857.6(RP1L1):c.6626T>C (p.Leu2209Ser) rs1181387936
NM_178857.6(RP1L1):c.6658G>T (p.Glu2220Ter) rs1563119360
NM_178857.6(RP1L1):c.6688A>G (p.Thr2230Ala) rs1309682116
NM_178857.6(RP1L1):c.6689C>A (p.Thr2230Asn)
NM_178857.6(RP1L1):c.6733A>T (p.Thr2245Ser) rs770960261
NM_178857.6(RP1L1):c.7117C>T (p.Gln2373Ter) rs759654067
NM_178857.6(RP1L1):c.7143C>A (p.Leu2381=) rs112520779
NM_178857.6(RP1L1):c.72C>A (p.Thr24=) rs760022316
NM_178857.6(RP1L1):c.776C>A (p.Pro259Gln) rs374097176
NM_178857.6(RP1L1):c.851C>T (p.Pro284Leu) rs74594406

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