ClinVar Miner

List of variants in gene RP1L1 studied for not provided

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Gene type:
ClinVar version:
Total variants: 659
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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.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.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.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.3955G>A (p.Ala1319Thr) rs73201156 0.00515
NM_178857.6(RP1L1):c.5421C>G (p.Gly1807=) rs77593247 0.00385
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.814C>G (p.Pro272Ala) rs77833234 0.00314
NM_178857.6(RP1L1):c.6812C>G (p.Pro2271Arg) rs183232880 0.00297
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.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.273C>T (p.Ser91=) rs201810499 0.00200
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.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.3125T>A (p.Val1042Asp) rs201692326 0.00167
NM_178857.6(RP1L1):c.4675G>A (p.Glu1559Lys) rs199965589 0.00163
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.169G>A (p.Ala57Thr) rs200493737 0.00152
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.523A>G (p.Thr175Ala) rs191773730 0.00124
NM_178857.6(RP1L1):c.5959C>T (p.Gln1987Ter) rs200846354 0.00124
NM_178857.6(RP1L1):c.4360C>T (p.Pro1454Ser) rs200392631 0.00123
NM_178857.6(RP1L1):c.2923T>A (p.Leu975Met) rs146002320 0.00116
NM_178857.6(RP1L1):c.610-20C>T rs201213391 0.00116
NM_178857.6(RP1L1):c.156C>T (p.Ala52=) rs78501382 0.00112
NM_178857.6(RP1L1):c.610-17G>A rs376919128 0.00112
NM_178857.6(RP1L1):c.326_327insT (p.Lys111fs) rs771427543 0.00106
NM_178857.6(RP1L1):c.4323G>A (p.Pro1441=) rs199802369 0.00103
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.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.249A>G (p.Thr83=) rs201392821 0.00067
NM_178857.6(RP1L1):c.3027G>A (p.Ala1009=) rs201640796 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.77C>T (p.Ser26Leu) rs185749010 0.00049
NM_178857.6(RP1L1):c.3854C>T (p.Ala1285Val) rs201382029 0.00047
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.526A>G (p.Arg176Gly) rs187343209 0.00039
NM_178857.6(RP1L1):c.1762G>T (p.Asp588Tyr) rs200344135 0.00038
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.976A>G (p.Lys326Glu) rs188580536 0.00032
NM_178857.6(RP1L1):c.954C>T (p.Asp318=) rs200317816 0.00031
NM_178857.6(RP1L1):c.455G>A (p.Arg152Gln) rs200213603 0.00030
NM_178857.6(RP1L1):c.609+2T>C rs199958805 0.00030
NM_178857.6(RP1L1):c.1035G>A (p.Arg345=) rs73201157 0.00027
NM_178857.6(RP1L1):c.186C>T (p.Ser62=) rs142487521 0.00026
NM_178857.6(RP1L1):c.6394A>G (p.Ile2132Val) rs771928895 0.00026
NM_178857.6(RP1L1):c.4725G>A (p.Glu1575=) rs200941554 0.00025
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.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.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.4744C>T (p.Arg1582Trp) rs185345872 0.00019
NM_178857.6(RP1L1):c.5132G>C (p.Gly1711Ala) rs200635063 0.00019
NM_178857.6(RP1L1):c.211C>T (p.Arg71Cys) rs201291934 0.00017
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.262C>T (p.His88Tyr) rs201171027 0.00015
NM_178857.6(RP1L1):c.148C>T (p.Arg50Cys) rs369908377 0.00014
NM_178857.6(RP1L1):c.289G>C (p.Glu97Gln) rs142083988 0.00014
NM_178857.6(RP1L1):c.181T>G (p.Phe61Val) rs375818359 0.00013
NM_178857.6(RP1L1):c.4630C>T (p.Arg1544Cys) rs374999818 0.00013
NM_178857.6(RP1L1):c.214G>A (p.Val72Met) rs374370511 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.212G>A (p.Arg71His) rs200996822 0.00011
NM_178857.6(RP1L1):c.3925G>T (p.Gly1309Ter) rs758831525 0.00011
NM_178857.6(RP1L1):c.4482A>G (p.Gln1494=) rs201357374 0.00011
NM_178857.6(RP1L1):c.71C>T (p.Thr24Ile) rs771358254 0.00011
NM_178857.6(RP1L1):c.134G>A (p.Arg45Gln) rs770740394 0.00010
NM_178857.6(RP1L1):c.192C>A (p.Leu64=) rs372270166 0.00010
NM_178857.6(RP1L1):c.2295C>T (p.Asp765=) rs193225741 0.00010
NM_178857.6(RP1L1):c.2456G>C (p.Gly819Ala) rs201576854 0.00010
NM_178857.6(RP1L1):c.2732G>T (p.Ser911Ile) rs757352407 0.00010
NM_178857.6(RP1L1):c.327C>T (p.Pro109=) rs566311667 0.00010
NM_178857.6(RP1L1):c.484C>A (p.Pro162Thr) rs776563038 0.00010
NM_178857.6(RP1L1):c.549C>T (p.Gly183=) rs200762007 0.00010
NM_178857.6(RP1L1):c.749A>G (p.Asn250Ser) rs572651975 0.00010
NM_178857.6(RP1L1):c.149G>A (p.Arg50His) rs756576372 0.00009
NM_178857.6(RP1L1):c.1509C>T (p.Pro503=) rs371771522 0.00009
NM_178857.6(RP1L1):c.235C>T (p.Arg79Cys) rs377269054 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_178857.6(RP1L1):c.601G>A (p.Gly201Arg) rs767784152 0.00009
NM_178857.6(RP1L1):c.257G>A (p.Gly86Asp) rs368839450 0.00008
NM_178857.6(RP1L1):c.389G>A (p.Arg130Gln) rs550562431 0.00008
NM_178857.6(RP1L1):c.6174G>A (p.Pro2058=) rs200660179 0.00008
NM_178857.6(RP1L1):c.117C>G (p.Leu39=) rs751004024 0.00007
NM_178857.6(RP1L1):c.236G>A (p.Arg79His) rs373251905 0.00007
NM_178857.6(RP1L1):c.274G>A (p.Ala92Thr) rs759671638 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.1067A>T (p.Asp356Val) rs750107135 0.00006
NM_178857.6(RP1L1):c.1268G>C (p.Arg423Pro) rs566321002 0.00006
NM_178857.6(RP1L1):c.1298G>A (p.Arg433His) rs756134481 0.00006
NM_178857.6(RP1L1):c.1394C>T (p.Ser465Leu) rs772280379 0.00006
NM_178857.6(RP1L1):c.1937G>C (p.Ser646Thr) rs755501463 0.00006
NM_178857.6(RP1L1):c.206C>T (p.Ser69Phe) rs376627166 0.00006
NM_178857.6(RP1L1):c.2146T>C (p.Ser716Pro) rs200833270 0.00006
NM_178857.6(RP1L1):c.329C>T (p.Pro110Leu) rs536817048 0.00006
NM_178857.6(RP1L1):c.351C>T (p.Gly117=) rs367964647 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.510C>T (p.Leu170=) rs543697177 0.00006
NM_178857.6(RP1L1):c.541T>A (p.Phe181Ile) rs371879954 0.00006
NM_178857.6(RP1L1):c.5606C>G (p.Pro1869Arg) rs200473134 0.00006
NM_178857.6(RP1L1):c.6173C>T (p.Pro2058Leu) rs374789384 0.00006
NM_178857.6(RP1L1):c.670G>A (p.Ala224Thr) rs117547822 0.00006
NM_178857.6(RP1L1):c.1317C>A (p.Gly439=) rs567145237 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.4577C>T (p.Thr1526Met) rs267601688 0.00005
NM_178857.6(RP1L1):c.610-14C>T rs372152964 0.00005
NM_178857.6(RP1L1):c.6322G>A (p.Gly2108Arg) rs187998469 0.00005
NM_178857.6(RP1L1):c.1169G>A (p.Gly390Glu) rs375552224 0.00004
NM_178857.6(RP1L1):c.122G>A (p.Arg41Gln) rs536131729 0.00004
NM_178857.6(RP1L1):c.194T>C (p.Met65Thr) rs377036512 0.00004
NM_178857.6(RP1L1):c.22G>A (p.Ala8Thr) rs371756047 0.00004
NM_178857.6(RP1L1):c.230G>A (p.Gly77Glu) rs764424188 0.00004
NM_178857.6(RP1L1):c.234G>A (p.Val78=) rs764024269 0.00004
NM_178857.6(RP1L1):c.253C>T (p.Arg85Trp) rs779469547 0.00004
NM_178857.6(RP1L1):c.378T>C (p.Ala126=) rs751975624 0.00004
NM_178857.6(RP1L1):c.397G>A (p.Glu133Lys) rs749294164 0.00004
NM_178857.6(RP1L1):c.4486A>C (p.Thr1496Pro) rs759412489 0.00004
NM_178857.6(RP1L1):c.4631G>A (p.Arg1544His) rs371249670 0.00004
NM_178857.6(RP1L1):c.502G>A (p.Val168Met) rs1470101683 0.00004
NM_178857.6(RP1L1):c.712G>A (p.Ala238Thr) rs199682045 0.00004
NM_178857.6(RP1L1):c.905C>T (p.Pro302Leu) rs759951793 0.00004
NM_178857.6(RP1L1):c.1090C>G (p.Pro364Ala) rs372699223 0.00003
NM_178857.6(RP1L1):c.1106G>T (p.Trp369Leu) rs369268494 0.00003
NM_178857.6(RP1L1):c.11C>A (p.Thr4Asn) rs754667501 0.00003
NM_178857.6(RP1L1):c.199G>A (p.Glu67Lys) rs370718655 0.00003
NM_178857.6(RP1L1):c.232G>A (p.Val78Met) rs761728595 0.00003
NM_178857.6(RP1L1):c.2807G>A (p.Gly936Glu) rs377549388 0.00003
NM_178857.6(RP1L1):c.3591C>T (p.Ser1197=) rs781007999 0.00003
NM_178857.6(RP1L1):c.371C>T (p.Pro124Leu) rs570222177 0.00003
NM_178857.6(RP1L1):c.396C>T (p.Val132=) rs768709297 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.546C>T (p.Leu182=) rs368113759 0.00003
NM_178857.6(RP1L1):c.569G>A (p.Arg190His) rs760999157 0.00003
NM_178857.6(RP1L1):c.6118G>T (p.Glu2040Ter) rs201774530 0.00003
NM_178857.6(RP1L1):c.626C>T (p.Ala209Val) rs1458491829 0.00003
NM_178857.6(RP1L1):c.1030G>T (p.Gly344Cys) rs761779201 0.00002
NM_178857.6(RP1L1):c.1107G>A (p.Trp369Ter) rs567106336 0.00002
NM_178857.6(RP1L1):c.180C>T (p.Thr60=) rs368087618 0.00002
NM_178857.6(RP1L1):c.1958G>A (p.Ser653Asn) rs761344455 0.00002
NM_178857.6(RP1L1):c.308T>C (p.Leu103Pro) rs777588819 0.00002
NM_178857.6(RP1L1):c.353G>A (p.Arg118Gln) rs557203614 0.00002
NM_178857.6(RP1L1):c.377C>A (p.Ala126Asp) rs1260749096 0.00002
NM_178857.6(RP1L1):c.385T>C (p.Leu129=) rs761054315 0.00002
NM_178857.6(RP1L1):c.387G>C (p.Leu129Phe) rs572144035 0.00002
NM_178857.6(RP1L1):c.39C>T (p.His13=) rs775956678 0.00002
NM_178857.6(RP1L1):c.4027G>A (p.Glu1343Lys) rs991739068 0.00002
NM_178857.6(RP1L1):c.406C>T (p.Arg136Cys) rs781222519 0.00002
NM_178857.6(RP1L1):c.433C>T (p.Arg145Trp) rs749098420 0.00002
NM_178857.6(RP1L1):c.434G>A (p.Arg145Gln) rs373569904 0.00002
NM_178857.6(RP1L1):c.44A>G (p.Glu15Gly) rs575228025 0.00002
NM_178857.6(RP1L1):c.5223C>T (p.Asp1741=) rs372016680 0.00002
NM_178857.6(RP1L1):c.5278C>T (p.Leu1760Phe) rs762713239 0.00002
NM_178857.6(RP1L1):c.537C>T (p.Ala179=) rs749646079 0.00002
NM_178857.6(RP1L1):c.617C>T (p.Ser206Leu) rs760447634 0.00002
NM_178857.6(RP1L1):c.751+5G>C rs781255037 0.00002
NM_178857.6(RP1L1):c.917G>C (p.Gly306Ala) rs761314438 0.00002
NM_178857.6(RP1L1):c.109A>G (p.Thr37Ala) rs755268691 0.00001
NM_178857.6(RP1L1):c.1122G>A (p.Trp374Ter) rs1205382497 0.00001
NM_178857.6(RP1L1):c.133C>T (p.Arg45Trp) rs267607017 0.00001
NM_178857.6(RP1L1):c.138T>C (p.Phe46=) rs772128758 0.00001
NM_178857.6(RP1L1):c.13C>G (p.Pro5Ala) rs376254324 0.00001
NM_178857.6(RP1L1):c.1616C>T (p.Thr539Ile) rs1168570410 0.00001
NM_178857.6(RP1L1):c.1682C>A (p.Ala561Asp) rs1013927022 0.00001
NM_178857.6(RP1L1):c.1702G>C (p.Ala568Pro) rs868806061 0.00001
NM_178857.6(RP1L1):c.202C>T (p.Leu68Phe) rs902459185 0.00001
NM_178857.6(RP1L1):c.204C>G (p.Leu68=) rs749247094 0.00001
NM_178857.6(RP1L1):c.2221A>G (p.Thr741Ala) rs1318029684 0.00001
NM_178857.6(RP1L1):c.324G>A (p.Lys108=) rs1157547258 0.00001
NM_178857.6(RP1L1):c.325C>T (p.Pro109Ser) rs753986463 0.00001
NM_178857.6(RP1L1):c.3565A>G (p.Met1189Val) rs1334046331 0.00001
NM_178857.6(RP1L1):c.3638G>A (p.Ser1213Asn) rs1240908237 0.00001
NM_178857.6(RP1L1):c.379C>T (p.Gln127Ter) rs1026958280 0.00001
NM_178857.6(RP1L1):c.394G>A (p.Val132Ile) rs747870004 0.00001
NM_178857.6(RP1L1):c.414_415insT (p.Pro139fs) rs1554454599 0.00001
NM_178857.6(RP1L1):c.453C>T (p.Pro151=) rs755515543 0.00001
NM_178857.6(RP1L1):c.45G>A (p.Glu15=) rs761396117 0.00001
NM_178857.6(RP1L1):c.500C>A (p.Thr167Lys) rs775422104 0.00001
NM_178857.6(RP1L1):c.506T>C (p.Val169Ala) rs759265325 0.00001
NM_178857.6(RP1L1):c.5089A>G (p.Arg1697Gly) rs1229768696 0.00001
NM_178857.6(RP1L1):c.520A>C (p.Asn174His) rs760782145 0.00001
NM_178857.6(RP1L1):c.522T>C (p.Asn174=) rs201260689 0.00001
NM_178857.6(RP1L1):c.556T>G (p.Ser186Ala) rs201308431 0.00001
NM_178857.6(RP1L1):c.5602C>T (p.Gln1868Ter) rs1045490638 0.00001
NM_178857.6(RP1L1):c.593C>T (p.Thr198Met) rs757917733 0.00001
NM_178857.6(RP1L1):c.605A>G (p.Lys202Arg) rs376112586 0.00001
NM_178857.6(RP1L1):c.609+16C>T rs1349434115 0.00001
NM_178857.6(RP1L1):c.610-16C>T rs771490489 0.00001
NM_178857.6(RP1L1):c.610-18C>T rs368774529 0.00001
NM_178857.6(RP1L1):c.671C>A (p.Ala224Asp) rs757526920 0.00001
NM_178857.6(RP1L1):c.6993G>A (p.Thr2331=) rs533478971 0.00001
NM_178857.6(RP1L1):c.69C>T (p.Arg23=) rs544843021 0.00001
NM_178857.6(RP1L1):c.725C>G (p.Ser242Cys) rs1217330995 0.00001
NM_178857.6(RP1L1):c.72C>T (p.Thr24=) rs760022316 0.00001
NM_178857.6(RP1L1):c.75C>G (p.Pro25=) rs773932368 0.00001
NM_178857.6(RP1L1):c.83C>T (p.Thr28Ile) rs745672527 0.00001
NM_178857.6(RP1L1):c.92C>T (p.Thr31Met) rs370516875 0.00001
NM_178857.6(RP1L1):c.989A>T (p.His330Leu) rs772188613 0.00001
GRCh37/hg19 8p23.1(chr8:10450423-10506235)x1
NC_000008.10:g.(?_10464405)_(10470876_?)dup
NC_000008.10:g.(?_10464405)_(10480711_?)del
NC_000008.10:g.(?_10467650)_(10469892_?)del
NC_000008.10:g.(?_10473936)_(10474117_?)del
NC_000008.10:g.(?_10473936)_(10480711_?)del
NC_000008.10:g.(?_10480083)_(10480711_?)del
NM_178857.6(RP1L1):c.1022G>A (p.Arg341Gln)
NM_178857.6(RP1L1):c.1041C>T (p.Ser347=)
NM_178857.6(RP1L1):c.1043C>T (p.Ala348Val) rs374888951
NM_178857.6(RP1L1):c.1069C>A (p.Pro357Thr)
NM_178857.6(RP1L1):c.1072G>T (p.Val358Phe)
NM_178857.6(RP1L1):c.1081G>A (p.Glu361Lys) rs202074432
NM_178857.6(RP1L1):c.110C>A (p.Thr37Asn)
NM_178857.6(RP1L1):c.11C>G (p.Thr4Ser)
NM_178857.6(RP1L1):c.11C>T (p.Thr4Ile)
NM_178857.6(RP1L1):c.1204G>A (p.Gly402Arg)
NM_178857.6(RP1L1):c.121C>T (p.Arg41Ter) rs552894484
NM_178857.6(RP1L1):c.1257_1258dup (p.Val420fs) rs764382843
NM_178857.6(RP1L1):c.1294G>A (p.Val432Ile)
NM_178857.6(RP1L1):c.131C>T (p.Pro44Leu) rs759368505
NM_178857.6(RP1L1):c.133C>G (p.Arg45Gly) rs267607017
NM_178857.6(RP1L1):c.1363C>A (p.Pro455Thr)
NM_178857.6(RP1L1):c.1386C>T (p.Pro462=) rs75355484
NM_178857.6(RP1L1):c.1387G>A (p.Glu463Lys)
NM_178857.6(RP1L1):c.142G>C (p.Gly48Arg)
NM_178857.6(RP1L1):c.1539C>T (p.Gly513=)
NM_178857.6(RP1L1):c.1549C>T (p.Gln517Ter) rs767562322
NM_178857.6(RP1L1):c.154G>A (p.Ala52Thr)
NM_178857.6(RP1L1):c.157G>A (p.Val53Ile) rs192698867
NM_178857.6(RP1L1):c.158T>C (p.Val53Ala) rs2117227014
NM_178857.6(RP1L1):c.159T>C (p.Val53=)
NM_178857.6(RP1L1):c.163C>T (p.Gln55Ter)
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.167G>A (p.Arg56His)
NM_178857.6(RP1L1):c.168C>A (p.Arg56=) rs187433303
NM_178857.6(RP1L1):c.168C>T (p.Arg56=) rs187433303
NM_178857.6(RP1L1):c.170C>T (p.Ala57Val) rs1798094991
NM_178857.6(RP1L1):c.172T>A (p.Phe58Ile)
NM_178857.6(RP1L1):c.178A>G (p.Thr60Ala)
NM_178857.6(RP1L1):c.179C>T (p.Thr60Ile) rs1396460290
NM_178857.6(RP1L1):c.1806G>C (p.Thr602=) rs374308509
NM_178857.6(RP1L1):c.1810G>A (p.Ala604Thr) rs1474979716
NM_178857.6(RP1L1):c.187G>A (p.Ala63Thr)
NM_178857.6(RP1L1):c.188C>A (p.Ala63Asp) rs756444851
NM_178857.6(RP1L1):c.189C>T (p.Ala63=) rs746223147
NM_178857.6(RP1L1):c.193A>G (p.Met65Val)
NM_178857.6(RP1L1):c.195G>A (p.Met65Ile) rs765948539
NM_178857.6(RP1L1):c.197A>G (p.Asp66Gly)
NM_178857.6(RP1L1):c.198C>G (p.Asp66Glu)
NM_178857.6(RP1L1):c.2042C>T (p.Ser681Phe) rs2117204011
NM_178857.6(RP1L1):c.2061G>C (p.Pro687=) rs200963001
NM_178857.6(RP1L1):c.2065C>T (p.Pro689Ser)
NM_178857.6(RP1L1):c.2068C>G (p.Pro690Ala) rs1036667471
NM_178857.6(RP1L1):c.2077C>T (p.Arg693Ter)
NM_178857.6(RP1L1):c.208C>T (p.Gln70Ter)
NM_178857.6(RP1L1):c.2107C>T (p.Arg703Ter) rs775708703
NM_178857.6(RP1L1):c.2129G>A (p.Ser710Asn) rs1554452227
NM_178857.6(RP1L1):c.216G>A (p.Val72=)
NM_178857.6(RP1L1):c.220C>G (p.Leu74Val)
NM_178857.6(RP1L1):c.231G>A (p.Gly77=)
NM_178857.6(RP1L1):c.2325C>A (p.Pro775=) rs1563124477
NM_178857.6(RP1L1):c.2327del (p.Ile776fs) rs1563124470
NM_178857.6(RP1L1):c.2332C>T (p.Pro778Ser)
NM_178857.6(RP1L1):c.2369C>T (p.Ala790Val)
NM_178857.6(RP1L1):c.2374C>G (p.Leu792Val)
NM_178857.6(RP1L1):c.2379G>T (p.Gly793=)
NM_178857.6(RP1L1):c.2397G>A (p.Thr799=)
NM_178857.6(RP1L1):c.245C>G (p.Thr82Ser) rs542538764
NM_178857.6(RP1L1):c.245C>T (p.Thr82Ile)
NM_178857.6(RP1L1):c.246C>T (p.Thr82=) rs747378535
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>A (p.Pro84Thr)
NM_178857.6(RP1L1):c.250C>G (p.Pro84Ala) rs748807865
NM_178857.6(RP1L1):c.254G>A (p.Arg85Gln)
NM_178857.6(RP1L1):c.255G>C (p.Arg85=)
NM_178857.6(RP1L1):c.256G>A (p.Gly86Ser)
NM_178857.6(RP1L1):c.2579G>T (p.Arg860Leu)
NM_178857.6(RP1L1):c.2585G>T (p.Cys862Phe)
NM_178857.6(RP1L1):c.258C>T (p.Gly86=)
NM_178857.6(RP1L1):c.25C>T (p.Gln9Ter) rs1486810062
NM_178857.6(RP1L1):c.260T>C (p.Leu87Pro)
NM_178857.6(RP1L1):c.2645G>A (p.Arg882Gln)
NM_178857.6(RP1L1):c.272G>A (p.Ser91Asn)
NM_178857.6(RP1L1):c.274G>T (p.Ala92Ser)
NM_178857.6(RP1L1):c.2754G>A (p.Gly918=)
NM_178857.6(RP1L1):c.275C>T (p.Ala92Val) rs886062586
NM_178857.6(RP1L1):c.278T>G (p.Leu93Arg)
NM_178857.6(RP1L1):c.2806G>T (p.Gly936Trp)
NM_178857.6(RP1L1):c.280G>C (p.Glu94Gln) rs942687332
NM_178857.6(RP1L1):c.283C>T (p.Gln95Ter) rs1563131180
NM_178857.6(RP1L1):c.2878T>C (p.Trp960Arg) rs267607018
NM_178857.6(RP1L1):c.29C>A (p.Ala10Asp)
NM_178857.6(RP1L1):c.300C>T (p.Gly100=)
NM_178857.6(RP1L1):c.3022C>T (p.Gln1008Ter) rs756996764
NM_178857.6(RP1L1):c.302_303delinsTG (p.Cys101Leu) rs2117226528
NM_178857.6(RP1L1):c.303C>T (p.Cys101=) rs756926025
NM_178857.6(RP1L1):c.3058C>A (p.Gln1020Lys)
NM_178857.6(RP1L1):c.3115G>A (p.Gly1039Arg) rs1797838030
NM_178857.6(RP1L1):c.311G>A (p.Cys104Tyr)
NM_178857.6(RP1L1):c.313T>C (p.Ser105Pro)
NM_178857.6(RP1L1):c.314C>T (p.Ser105Phe)
NM_178857.6(RP1L1):c.31C>T (p.Pro11Ser)
NM_178857.6(RP1L1):c.321G>C (p.Lys107Asn)
NM_178857.6(RP1L1):c.325C>A (p.Pro109Thr) rs753986463
NM_178857.6(RP1L1):c.326C>A (p.Pro109His) rs761018819
NM_178857.6(RP1L1):c.3289C>A (p.Pro1097Thr)
NM_178857.6(RP1L1):c.329C>G (p.Pro110Arg) rs536817048
NM_178857.6(RP1L1):c.3303C>G (p.Pro1101=) rs374612639
NM_178857.6(RP1L1):c.330C>G (p.Pro110=)
NM_178857.6(RP1L1):c.330C>T (p.Pro110=)
NM_178857.6(RP1L1):c.330del (p.Lys111fs) rs770312128
NM_178857.6(RP1L1):c.330dup (p.Lys111fs) rs770312128
NM_178857.6(RP1L1):c.331A>G (p.Lys111Glu)
NM_178857.6(RP1L1):c.3322G>A (p.Ala1108Thr) rs981198123
NM_178857.6(RP1L1):c.332del (p.Lys111fs) rs1798088088
NM_178857.6(RP1L1):c.333G>A (p.Lys111=)
NM_178857.6(RP1L1):c.335C>T (p.Thr112Ile) rs6601495
NM_178857.6(RP1L1):c.336C>A (p.Thr112=)
NM_178857.6(RP1L1):c.3413_3414del (p.Lys1138fs) rs766948560
NM_178857.6(RP1L1):c.342T>G (p.Ser114Arg)
NM_178857.6(RP1L1):c.344G>A (p.Gly115Glu)
NM_178857.6(RP1L1):c.3457A>C (p.Ile1153Leu)
NM_178857.6(RP1L1):c.346C>T (p.Pro116Ser)
NM_178857.6(RP1L1):c.347C>G (p.Pro116Arg)
NM_178857.6(RP1L1):c.3486C>T (p.Asp1162=)
NM_178857.6(RP1L1):c.348A>T (p.Pro116=)
NM_178857.6(RP1L1):c.3509C>A (p.Ser1170Ter) rs774522259
NM_178857.6(RP1L1):c.353_356del (p.Arg118fs)
NM_178857.6(RP1L1):c.354G>A (p.Arg118=) rs753937136
NM_178857.6(RP1L1):c.355C>T (p.Pro119Ser)
NM_178857.6(RP1L1):c.356C>T (p.Pro119Leu)
NM_178857.6(RP1L1):c.358C>A (p.Gln120Lys)
NM_178857.6(RP1L1):c.3595T>G (p.Ser1199Ala) rs1797825562
NM_178857.6(RP1L1):c.3596C>G (p.Ser1199Cys) rs863225442
NM_178857.6(RP1L1):c.3599G>A (p.Gly1200Asp) rs964723839
NM_178857.6(RP1L1):c.35G>T (p.Ser12Ile)
NM_178857.6(RP1L1):c.360G>T (p.Gln120His)
NM_178857.6(RP1L1):c.361G>A (p.Glu121Lys) rs750614061
NM_178857.6(RP1L1):c.363G>T (p.Glu121Asp)
NM_178857.6(RP1L1):c.365G>C (p.Arg122Thr)
NM_178857.6(RP1L1):c.36C>A (p.Ser12Arg)
NM_178857.6(RP1L1):c.370C>G (p.Pro124Ala)
NM_178857.6(RP1L1):c.376G>A (p.Ala126Thr) rs2117226221
NM_178857.6(RP1L1):c.376G>T (p.Ala126Ser)
NM_178857.6(RP1L1):c.3779C>G (p.Thr1260Ser) rs186517479
NM_178857.6(RP1L1):c.377C>T (p.Ala126Val)
NM_178857.6(RP1L1):c.37C>T (p.His13Tyr)
NM_178857.6(RP1L1):c.380A>T (p.Gln127Leu) rs1309991756
NM_178857.6(RP1L1):c.381G>C (p.Gln127His)
NM_178857.6(RP1L1):c.384G>C (p.Gln128His)
NM_178857.6(RP1L1):c.384G>T (p.Gln128His) rs763495243
NM_178857.6(RP1L1):c.3855G>A (p.Ala1285=)
NM_178857.6(RP1L1):c.386T>A (p.Leu129Ter)
NM_178857.6(RP1L1):c.386T>C (p.Leu129Ser) rs1798086332
NM_178857.6(RP1L1):c.388C>T (p.Arg130Trp)
NM_178857.6(RP1L1):c.3956_4003del (p.Ala1319_Glu1334del) rs746122572
NM_178857.6(RP1L1):c.3959T>C (p.Val1320Ala)
NM_178857.6(RP1L1):c.3968A>T (p.Glu1323Val) rs1277484313
NM_178857.6(RP1L1):c.3970_3971insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG (p.Glu1323_Glu1324insGlyThrLysValIleGluGlyLeuGlnGluGluArgValGlnLeuGlu) rs369606728
NM_178857.6(RP1L1):c.3970_3971insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGAGG (p.Glu1323_Glu1324insGlyThrLysValIleGluGlyLeuGlnGluGluGlyValGlnLeuGlu)
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.3979_4026del (p.Thr1327_Lys1342del)
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.3983_3984insGGGGACTAAAGTAAT (p.Glu1328_Glu1329insGlyThrLysValIle) rs760634189
NM_178857.6(RP1L1):c.398A>G (p.Glu133Gly) rs780152398
NM_178857.6(RP1L1):c.4002G>A (p.Glu1334=) rs749598085
NM_178857.6(RP1L1):c.4018_4019insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG (p.Glu1339_Glu1340insGlyThrLysValIleGluGlyLeuGlnGluGluArgValGlnLeuGlu) rs1585963467
NM_178857.6(RP1L1):c.403C>T (p.Gln135Ter) rs2117226120
NM_178857.6(RP1L1):c.404A>G (p.Gln135Arg) rs1798085612
NM_178857.6(RP1L1):c.407G>C (p.Arg136Pro)
NM_178857.6(RP1L1):c.4088GAG[1] (p.Gly1364del) rs886062578
NM_178857.6(RP1L1):c.40C>A (p.Arg14Ser) rs765708710
NM_178857.6(RP1L1):c.415C>T (p.Pro139Ser)
NM_178857.6(RP1L1):c.416C>T (p.Pro139Leu)
NM_178857.6(RP1L1):c.416dup (p.Gly140fs) rs201192645
NM_178857.6(RP1L1):c.4177G>A (p.Gly1393Ser) rs762439244
NM_178857.6(RP1L1):c.41G>A (p.Arg14His) rs544332270
NM_178857.6(RP1L1):c.420C>T (p.Gly140=) rs79465957
NM_178857.6(RP1L1):c.422C>A (p.Thr141Asn)
NM_178857.6(RP1L1):c.423C>G (p.Thr141=)
NM_178857.6(RP1L1):c.424T>A (p.Ser142Thr)
NM_178857.6(RP1L1):c.424T>G (p.Ser142Ala)
NM_178857.6(RP1L1):c.424TCC[2] (p.Ser144del) rs771757943
NM_178857.6(RP1L1):c.426C>A (p.Ser142=)
NM_178857.6(RP1L1):c.426C>T (p.Ser142=)
NM_178857.6(RP1L1):c.428C>A (p.Ser143Tyr) rs774003548
NM_178857.6(RP1L1):c.429C>G (p.Ser143=) rs377067278
NM_178857.6(RP1L1):c.429C>T (p.Ser143=)
NM_178857.6(RP1L1):c.4306T>A (p.Ser1436Thr) rs756335904
NM_178857.6(RP1L1):c.4306T>C (p.Ser1436Pro) rs756335904
NM_178857.6(RP1L1):c.435G>A (p.Arg145=)
NM_178857.6(RP1L1):c.435del (p.Lys146fs) rs747832575
NM_178857.6(RP1L1):c.439_440del (p.Ser147_Leu148insTer)
NM_178857.6(RP1L1):c.4403dup (p.Ser1469fs)
NM_178857.6(RP1L1):c.442C>G (p.Leu148Val)
NM_178857.6(RP1L1):c.4440G>A (p.Pro1480=) rs76720252
NM_178857.6(RP1L1):c.4479C>G (p.Ala1493=)
NM_178857.6(RP1L1):c.448A>G (p.Thr150Ala) rs377360026
NM_178857.6(RP1L1):c.449C>T (p.Thr150Ile) rs758699416
NM_178857.6(RP1L1):c.452C>G (p.Pro151Arg)
NM_178857.6(RP1L1):c.454C>G (p.Arg152Gly) rs749896033
NM_178857.6(RP1L1):c.454C>T (p.Arg152Trp)
NM_178857.6(RP1L1):c.454del (p.Arg152fs) rs778634096
NM_178857.6(RP1L1):c.454dup (p.Arg152fs)
NM_178857.6(RP1L1):c.459G>T (p.Arg153Ser)
NM_178857.6(RP1L1):c.460dup (p.Ile154fs)
NM_178857.6(RP1L1):c.4671G>A (p.Ala1557=) rs150438402
NM_178857.6(RP1L1):c.4692G>A (p.Val1564=)
NM_178857.6(RP1L1):c.46T>C (p.Cys16Arg)
NM_178857.6(RP1L1):c.471T>G (p.Ile157Met)
NM_178857.6(RP1L1):c.473A>G (p.Lys158Arg) rs1337509737
NM_178857.6(RP1L1):c.4769C>A (p.Pro1590His) rs372867998
NM_178857.6(RP1L1):c.476A>G (p.Asn159Ser)
NM_178857.6(RP1L1):c.477C>A (p.Asn159Lys) rs769690517
NM_178857.6(RP1L1):c.477C>G (p.Asn159Lys) rs769690517
NM_178857.6(RP1L1):c.478A>C (p.Met160Leu) rs369240307
NM_178857.6(RP1L1):c.480G>T (p.Met160Ile) rs868474754
NM_178857.6(RP1L1):c.4816C>T (p.Arg1606Cys)
NM_178857.6(RP1L1):c.481_567dup (p.Leu189_Arg190insAspProArgLeuGlnGlnThrValValLeuSerHisArgAsnThrArgAsnLeuAlaAlaPheLeuGlyLysAlaSerAspLeuLeu)
NM_178857.6(RP1L1):c.4831C>G (p.Arg1611Gly) rs199604262
NM_178857.6(RP1L1):c.484C>G (p.Pro162Ala) rs776563038
NM_178857.6(RP1L1):c.4851G>C (p.Ser1617=) rs527539772
NM_178857.6(RP1L1):c.487C>T (p.Arg163Cys)
NM_178857.6(RP1L1):c.489C>A (p.Arg163=) rs201167741
NM_178857.6(RP1L1):c.489C>T (p.Arg163=)
NM_178857.6(RP1L1):c.4905C>T (p.Asp1635=) rs200540100
NM_178857.6(RP1L1):c.4928T>C (p.Leu1643Pro)
NM_178857.6(RP1L1):c.496C>G (p.Gln166Glu)
NM_178857.6(RP1L1):c.498G>A (p.Gln166=) rs1554454548
NM_178857.6(RP1L1):c.498G>C (p.Gln166His) rs1554454548
NM_178857.6(RP1L1):c.499A>T (p.Thr167Ser) rs762735738
NM_178857.6(RP1L1):c.5015C>T (p.Pro1672Leu)
NM_178857.6(RP1L1):c.5124G>A (p.Val1708=)
NM_178857.6(RP1L1):c.512G>A (p.Ser171Asn)
NM_178857.6(RP1L1):c.5185G>A (p.Gly1729Arg)
NM_178857.6(RP1L1):c.5211G>A (p.Gly1737=) rs201594207
NM_178857.6(RP1L1):c.528G>C (p.Arg176Ser)
NM_178857.6(RP1L1):c.5293G>A (p.Gly1765Arg)
NM_178857.6(RP1L1):c.5294_5301delinsAAGATGAC (p.Gly1765_Ala1767delinsGluAspAsp)
NM_178857.6(RP1L1):c.529A>T (p.Asn177Tyr)
NM_178857.6(RP1L1):c.5308C>T (p.Gln1770Ter) rs986853401
NM_178857.6(RP1L1):c.537C>G (p.Ala179=)
NM_178857.6(RP1L1):c.538G>A (p.Ala180Thr) rs181942944
NM_178857.6(RP1L1):c.539C>T (p.Ala180Val)
NM_178857.6(RP1L1):c.5467G>A (p.Asp1823Asn)
NM_178857.6(RP1L1):c.547G>T (p.Gly183Cys)
NM_178857.6(RP1L1):c.5480G>A (p.Gly1827Glu)
NM_178857.6(RP1L1):c.548G>T (p.Gly183Val)
NM_178857.6(RP1L1):c.553G>C (p.Ala185Pro)
NM_178857.6(RP1L1):c.556T>C (p.Ser186Pro) rs201308431
NM_178857.6(RP1L1):c.55C>A (p.Pro19Thr)
NM_178857.6(RP1L1):c.5610G>A (p.Glu1870=)
NM_178857.6(RP1L1):c.5618A>G (p.Asp1873Gly) rs200622636
NM_178857.6(RP1L1):c.564C>A (p.Leu188=)
NM_178857.6(RP1L1):c.565C>G (p.Leu189Val) rs1303507157
NM_178857.6(RP1L1):c.567_568insGACCCTCGCCTCCAGCAGACGGTGGTTCTCAGTCACAGGAATACTAGGAACCTGGCCGCCTTTCTCGGCAAAGCCTCAGATCTCCTG (p.Leu189_Arg190insAspProArgLeuGlnGlnThrValValLeuSerHisArgAsnThrArgAsnLeuAlaAlaPheLeuGlyLysAlaSerAspLeuLeu)
NM_178857.6(RP1L1):c.5706G>T (p.Glu1902Asp) rs2117192752
NM_178857.6(RP1L1):c.572T>G (p.Phe191Cys)
NM_178857.6(RP1L1):c.575C>G (p.Pro192Arg)
NM_178857.6(RP1L1):c.5785G>T (p.Gly1929Trp) rs769602264
NM_178857.6(RP1L1):c.5821C>T (p.Gln1941Ter) rs201017122
NM_178857.6(RP1L1):c.5879_6487del (p.Val1960_Glu2162del)
NM_178857.6(RP1L1):c.591C>T (p.Tyr197=) rs781768770
NM_178857.6(RP1L1):c.592A>G (p.Thr198Ala) rs1798078707
NM_178857.6(RP1L1):c.594G>A (p.Thr198=) rs778582315
NM_178857.6(RP1L1):c.599G>C (p.Ser200Thr)
NM_178857.6(RP1L1):c.600C>T (p.Ser200=) rs374460999
NM_178857.6(RP1L1):c.602G>A (p.Gly201Glu) rs760475719
NM_178857.6(RP1L1):c.6046G>T (p.Ala2016Ser)
NM_178857.6(RP1L1):c.604A>G (p.Lys202Glu)
NM_178857.6(RP1L1):c.609+12G>A
NM_178857.6(RP1L1):c.609+13G>A
NM_178857.6(RP1L1):c.609+18G>C
NM_178857.6(RP1L1):c.609+20C>A rs370442562
NM_178857.6(RP1L1):c.609+20C>T
NM_178857.6(RP1L1):c.609+5G>A rs774344793
NM_178857.6(RP1L1):c.60T>G (p.Ser20=)
NM_178857.6(RP1L1):c.610-17G>T
NM_178857.6(RP1L1):c.610-19C>G rs1797970326
NM_178857.6(RP1L1):c.610-668_639del
NM_178857.6(RP1L1):c.6124C>T (p.Gln2042Ter)
NM_178857.6(RP1L1):c.612G>A (p.Val204=)
NM_178857.6(RP1L1):c.617C>A (p.Ser206Ter) rs760447634
NM_178857.6(RP1L1):c.6185_6226del (p.Glu2062_Glu2075del)
NM_178857.6(RP1L1):c.618G>A (p.Ser206=) rs779020216
NM_178857.6(RP1L1):c.618G>T (p.Ser206=) rs779020216
NM_178857.6(RP1L1):c.619C>T (p.Leu207=) rs1425727509
NM_178857.6(RP1L1):c.622C>T (p.Gln208Ter) rs201753844
NM_178857.6(RP1L1):c.6261C>T (p.Ala2087=)
NM_178857.6(RP1L1):c.6270A>T (p.Ala2090=)
NM_178857.6(RP1L1):c.6286C>T (p.Pro2096Ser) rs374414796
NM_178857.6(RP1L1):c.629_641del (p.Leu210fs) rs2117213401
NM_178857.6(RP1L1):c.631C>T (p.Leu211=) rs780247256
NM_178857.6(RP1L1):c.633G>A (p.Leu211=)
NM_178857.6(RP1L1):c.6376C>T (p.Gln2126Ter) rs1064796755
NM_178857.6(RP1L1):c.637A>G (p.Ser213Gly)
NM_178857.6(RP1L1):c.637A>T (p.Ser213Cys)
NM_178857.6(RP1L1):c.639C>T (p.Ser213=)
NM_178857.6(RP1L1):c.6404_6499del (p.Pro2135_Ala2166del)
NM_178857.6(RP1L1):c.640C>G (p.Pro214Ala)
NM_178857.6(RP1L1):c.6418G>A (p.Glu2140Lys) rs72494282
NM_178857.6(RP1L1):c.6427_6453del (p.Pro2143_Gln2151del) rs763500127
NM_178857.6(RP1L1):c.6442G>T (p.Val2148Leu) rs200283060
NM_178857.6(RP1L1):c.6445G>C (p.Glu2149Gln)
NM_178857.6(RP1L1):c.644C>G (p.Ser215Cys)
NM_178857.6(RP1L1):c.6522A>G (p.Gln2174=) rs780796353
NM_178857.6(RP1L1):c.6559G>C (p.Gly2187Arg)
NM_178857.6(RP1L1):c.658G>A (p.Ala220Thr)
NM_178857.6(RP1L1):c.659C>T (p.Ala220Val) rs2117213347
NM_178857.6(RP1L1):c.660C>T (p.Ala220=)
NM_178857.6(RP1L1):c.661G>A (p.Gly221Arg)
NM_178857.6(RP1L1):c.661G>C (p.Gly221Arg)
NM_178857.6(RP1L1):c.672C>T (p.Ala224=)
NM_178857.6(RP1L1):c.6753G>A (p.Gly2251=)
NM_178857.6(RP1L1):c.6780C>A (p.Gly2260=)
NM_178857.6(RP1L1):c.681C>G (p.Thr227=) rs758897868
NM_178857.6(RP1L1):c.681C>T (p.Thr227=) rs758897868
NM_178857.6(RP1L1):c.688A>C (p.Met230Leu)
NM_178857.6(RP1L1):c.689T>C (p.Met230Thr)
NM_178857.6(RP1L1):c.708C>T (p.Ser236=)
NM_178857.6(RP1L1):c.713C>A (p.Ala238Asp)
NM_178857.6(RP1L1):c.7143C>A (p.Leu2381=) rs112520779
NM_178857.6(RP1L1):c.714T>A (p.Ala238=) rs763914928
NM_178857.6(RP1L1):c.723A>T (p.Leu241Phe)
NM_178857.6(RP1L1):c.730C>T (p.Leu244=)
NM_178857.6(RP1L1):c.73C>G (p.Pro25Ala)
NM_178857.6(RP1L1):c.751+17G>A
NM_178857.6(RP1L1):c.751+6T>C
NM_178857.6(RP1L1):c.751+9G>C
NM_178857.6(RP1L1):c.751G>A (p.Gly251Arg) rs201120801
NM_178857.6(RP1L1):c.751G>T (p.Gly251Trp)
NM_178857.6(RP1L1):c.755G>C (p.Ser252Thr)
NM_178857.6(RP1L1):c.777G>A (p.Pro259=)
NM_178857.6(RP1L1):c.78G>A (p.Ser26=) rs773438295
NM_178857.6(RP1L1):c.78G>T (p.Ser26=)
NM_178857.6(RP1L1):c.803C>A (p.Pro268Gln)
NM_178857.6(RP1L1):c.81C>T (p.Val27=)
NM_178857.6(RP1L1):c.851C>T (p.Pro284Leu) rs74594406
NM_178857.6(RP1L1):c.86A>T (p.Lys29Met)
NM_178857.6(RP1L1):c.88G>A (p.Val30Ile)
NM_178857.6(RP1L1):c.88G>T (p.Val30Phe) rs968564698
NM_178857.6(RP1L1):c.89T>C (p.Val30Ala)
NM_178857.6(RP1L1):c.900G>A (p.Ser300=)
NM_178857.6(RP1L1):c.94C>T (p.Pro32Ser)
NM_178857.6(RP1L1):c.99C>T (p.Ala33=) rs2117227190

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