ClinVar Miner

List of variants in gene RP1L1 reported as uncertain significance for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 311
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HGVS dbSNP gnomAD frequency
NM_178857.6(RP1L1):c.32C>T (p.Pro11Leu) rs199642627 0.00215
NM_178857.6(RP1L1):c.899C>T (p.Ser300Leu) rs200642524 0.00172
NM_178857.6(RP1L1):c.4675G>A (p.Glu1559Lys) rs199965589 0.00163
NM_178857.6(RP1L1):c.217C>T (p.Pro73Ser) rs202082944 0.00158
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.326_327insT (p.Lys111fs) rs771427543 0.00106
NM_178857.6(RP1L1):c.652G>T (p.Val218Leu) rs77679870 0.00087
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.3200G>C (p.Gly1067Ala) rs201393573 0.00057
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.526A>G (p.Arg176Gly) rs187343209 0.00039
NM_178857.6(RP1L1):c.1762G>T (p.Asp588Tyr) rs200344135 0.00038
NM_178857.6(RP1L1):c.976A>G (p.Lys326Glu) rs188580536 0.00032
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.4725G>A (p.Glu1575=) rs200941554 0.00025
NM_178857.6(RP1L1):c.6611A>C (p.Glu2204Ala) rs200588941 0.00024
NM_178857.6(RP1L1):c.6902C>G (p.Ser2301Cys) rs199631825 0.00020
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.262C>T (p.His88Tyr) rs201171027 0.00015
NM_178857.6(RP1L1):c.148C>T (p.Arg50Cys) rs369908377 0.00014
NM_178857.6(RP1L1):c.181T>G (p.Phe61Val) rs375818359 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.212G>A (p.Arg71His) rs200996822 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.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.484C>A (p.Pro162Thr) rs776563038 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.235C>T (p.Arg79Cys) rs377269054 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.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.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.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.1378G>A (p.Gly460Ser) rs369924450 0.00005
NM_178857.6(RP1L1):c.4577C>T (p.Thr1526Met) rs267601688 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.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.1090C>G (p.Pro364Ala) rs372699223 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.371C>T (p.Pro124Leu) rs570222177 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.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.387G>C (p.Leu129Phe) rs572144035 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.617C>T (p.Ser206Leu) rs760447634 0.00002
NM_178857.6(RP1L1):c.751+5G>C rs781255037 0.00002
NM_178857.6(RP1L1):c.109A>G (p.Thr37Ala) rs755268691 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.202C>T (p.Leu68Phe) rs902459185 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.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.593C>T (p.Thr198Met) rs757917733 0.00001
NM_178857.6(RP1L1):c.605A>G (p.Lys202Arg) rs376112586 0.00001
NM_178857.6(RP1L1):c.671C>A (p.Ala224Asp) rs757526920 0.00001
NM_178857.6(RP1L1):c.725C>G (p.Ser242Cys) rs1217330995 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
NM_178857.6(RP1L1):c.1022G>A (p.Arg341Gln)
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.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.131C>T (p.Pro44Leu) rs759368505
NM_178857.6(RP1L1):c.133C>G (p.Arg45Gly) rs267607017
NM_178857.6(RP1L1):c.142G>C (p.Gly48Arg)
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.163C>T (p.Gln55Ter)
NM_178857.6(RP1L1):c.166C>A (p.Arg56Ser) rs150931842
NM_178857.6(RP1L1):c.167G>A (p.Arg56His)
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.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.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.2129G>A (p.Ser710Asn) rs1554452227
NM_178857.6(RP1L1):c.220C>G (p.Leu74Val)
NM_178857.6(RP1L1):c.2325C>A (p.Pro775=) rs1563124477
NM_178857.6(RP1L1):c.2327del (p.Ile776fs) rs1563124470
NM_178857.6(RP1L1):c.2369C>T (p.Ala790Val)
NM_178857.6(RP1L1):c.2374C>G (p.Leu792Val)
NM_178857.6(RP1L1):c.245C>G (p.Thr82Ser) rs542538764
NM_178857.6(RP1L1):c.245C>T (p.Thr82Ile)
NM_178857.6(RP1L1):c.250C>G (p.Pro84Ala) rs748807865
NM_178857.6(RP1L1):c.254G>A (p.Arg85Gln)
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.25C>T (p.Gln9Ter) rs1486810062
NM_178857.6(RP1L1):c.2645G>A (p.Arg882Gln)
NM_178857.6(RP1L1):c.274G>T (p.Ala92Ser)
NM_178857.6(RP1L1):c.275C>T (p.Ala92Val) rs886062586
NM_178857.6(RP1L1):c.278T>G (p.Leu93Arg)
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.3022C>T (p.Gln1008Ter) rs756996764
NM_178857.6(RP1L1):c.302_303delinsTG (p.Cys101Leu) rs2117226528
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.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.329C>G (p.Pro110Arg) rs536817048
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.335C>T (p.Thr112Ile) rs6601495
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.346C>T (p.Pro116Ser)
NM_178857.6(RP1L1):c.347C>G (p.Pro116Arg)
NM_178857.6(RP1L1):c.353_356del (p.Arg118fs)
NM_178857.6(RP1L1):c.355C>T (p.Pro119Ser)
NM_178857.6(RP1L1):c.356C>T (p.Pro119Leu)
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.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.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.386T>C (p.Leu129Ser) rs1798086332
NM_178857.6(RP1L1):c.388C>T (p.Arg130Trp)
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.3971A>G (p.Glu1324Gly) rs4240659
NM_178857.6(RP1L1):c.398A>G (p.Glu133Gly) rs780152398
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.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.4177G>A (p.Gly1393Ser) rs762439244
NM_178857.6(RP1L1):c.41G>A (p.Arg14His) rs544332270
NM_178857.6(RP1L1):c.422C>A (p.Thr141Asn)
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.428C>A (p.Ser143Tyr) rs774003548
NM_178857.6(RP1L1):c.4306T>C (p.Ser1436Pro) rs756335904
NM_178857.6(RP1L1):c.435del (p.Lys146fs) rs747832575
NM_178857.6(RP1L1):c.439_440del (p.Ser147_Leu148insTer)
NM_178857.6(RP1L1):c.442C>G (p.Leu148Val)
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.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.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.496C>G (p.Gln166Glu)
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.512G>A (p.Ser171Asn)
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.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.548G>T (p.Gly183Val)
NM_178857.6(RP1L1):c.556T>C (p.Ser186Pro) rs201308431
NM_178857.6(RP1L1):c.55C>A (p.Pro19Thr)
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.592A>G (p.Thr198Ala) rs1798078707
NM_178857.6(RP1L1):c.599G>C (p.Ser200Thr)
NM_178857.6(RP1L1):c.602G>A (p.Gly201Glu) rs760475719
NM_178857.6(RP1L1):c.604A>G (p.Lys202Glu)
NM_178857.6(RP1L1):c.609+20C>A rs370442562
NM_178857.6(RP1L1):c.609+5G>A rs774344793
NM_178857.6(RP1L1):c.610-668_639del
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.622C>T (p.Gln208Ter) rs201753844
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.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.640C>G (p.Pro214Ala)
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.659C>T (p.Ala220Val) rs2117213347
NM_178857.6(RP1L1):c.661G>A (p.Gly221Arg)
NM_178857.6(RP1L1):c.661G>C (p.Gly221Arg)
NM_178857.6(RP1L1):c.689T>C (p.Met230Thr)
NM_178857.6(RP1L1):c.713C>A (p.Ala238Asp)
NM_178857.6(RP1L1):c.751+6T>C
NM_178857.6(RP1L1):c.751G>A (p.Gly251Arg) rs201120801
NM_178857.6(RP1L1):c.755G>C (p.Ser252Thr)
NM_178857.6(RP1L1):c.803C>A (p.Pro268Gln)
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.94C>T (p.Pro32Ser)

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