ClinVar Miner

List of variants in gene RP1L1 reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 333
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HGVS dbSNP gnomAD frequency
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.610-13G>A rs62490859 0.09888
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.501A>G (p.Thr167=) rs79329877 0.01208
NM_178857.6(RP1L1):c.130C>G (p.Pro44Ala) rs140397694 0.00956
NM_178857.6(RP1L1):c.420C>A (p.Gly140=) rs79465957 0.00615
NM_178857.6(RP1L1):c.407G>A (p.Arg136His) rs189960401 0.00242
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.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.523A>G (p.Thr175Ala) rs191773730 0.00124
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.652G>T (p.Val218Leu) rs77679870 0.00087
NM_178857.6(RP1L1):c.249A>G (p.Thr83=) rs201392821 0.00067
NM_178857.6(RP1L1):c.324_325insT (p.Pro109fs) rs138816053 0.00057
NM_178857.6(RP1L1):c.77C>T (p.Ser26Leu) rs185749010 0.00049
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.526A>G (p.Arg176Gly) rs187343209 0.00039
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.455G>A (p.Arg152Gln) rs200213603 0.00030
NM_178857.6(RP1L1):c.609+2T>C rs199958805 0.00030
NM_178857.6(RP1L1):c.186C>T (p.Ser62=) rs142487521 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.67C>T (p.Arg23Cys) rs188979626 0.00021
NM_178857.6(RP1L1):c.213C>T (p.Arg71=) rs182267291 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.214G>A (p.Val72Met) rs374370511 0.00012
NM_178857.6(RP1L1):c.488G>A (p.Arg163His) rs182807255 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.192C>A (p.Leu64=) rs372270166 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.235C>T (p.Arg79Cys) rs377269054 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.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.206C>T (p.Ser69Phe) rs376627166 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.510C>T (p.Leu170=) rs543697177 0.00006
NM_178857.6(RP1L1):c.541T>A (p.Phe181Ile) rs371879954 0.00006
NM_178857.6(RP1L1):c.670G>A (p.Ala224Thr) rs117547822 0.00006
NM_178857.6(RP1L1):c.328C>T (p.Pro110Ser) rs773440242 0.00005
NM_178857.6(RP1L1):c.610-14C>T rs372152964 0.00005
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.502G>A (p.Val168Met) rs1470101683 0.00004
NM_178857.6(RP1L1):c.712G>A (p.Ala238Thr) rs199682045 0.00004
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.396C>T (p.Val132=) rs768709297 0.00003
NM_178857.6(RP1L1):c.428C>T (p.Ser143Phe) rs774003548 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.626C>T (p.Ala209Val) rs1458491829 0.00003
NM_178857.6(RP1L1):c.180C>T (p.Thr60=) rs368087618 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.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.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.109A>G (p.Thr37Ala) rs755268691 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.202C>T (p.Leu68Phe) rs902459185 0.00001
NM_178857.6(RP1L1):c.204C>G (p.Leu68=) rs749247094 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.379C>T (p.Gln127Ter) rs1026958280 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.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.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.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
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.11C>G (p.Thr4Ser)
NM_178857.6(RP1L1):c.11C>T (p.Thr4Ile)
NM_178857.6(RP1L1):c.121C>T (p.Arg41Ter) rs552894484
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.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.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.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.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.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.24C>G (p.Ala8=) rs374965485
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.258C>T (p.Gly86=)
NM_178857.6(RP1L1):c.25C>T (p.Gln9Ter) rs1486810062
NM_178857.6(RP1L1):c.274G>T (p.Ala92Ser)
NM_178857.6(RP1L1):c.275C>T (p.Ala92Val) rs886062586
NM_178857.6(RP1L1):c.280G>C (p.Glu94Gln) rs942687332
NM_178857.6(RP1L1):c.29C>A (p.Ala10Asp)
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.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.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.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.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.348A>T (p.Pro116=)
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.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.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.398A>G (p.Glu133Gly) rs780152398
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.416dup (p.Gly140fs) rs201192645
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>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.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.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.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.484C>G (p.Pro162Ala) rs776563038
NM_178857.6(RP1L1):c.487C>T (p.Arg163Cys)
NM_178857.6(RP1L1):c.489C>A (p.Arg163=) rs201167741
NM_178857.6(RP1L1):c.496C>G (p.Gln166Glu)
NM_178857.6(RP1L1):c.498G>A (p.Gln166=) rs1554454548
NM_178857.6(RP1L1):c.499A>T (p.Thr167Ser) rs762735738
NM_178857.6(RP1L1):c.512G>A (p.Ser171Asn)
NM_178857.6(RP1L1):c.528G>C (p.Arg176Ser)
NM_178857.6(RP1L1):c.529A>T (p.Asn177Tyr)
NM_178857.6(RP1L1):c.537C>G (p.Ala179=)
NM_178857.6(RP1L1):c.538G>A (p.Ala180Thr) rs181942944
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.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.572T>G (p.Phe191Cys)
NM_178857.6(RP1L1):c.575C>G (p.Pro192Arg)
NM_178857.6(RP1L1):c.591C>T (p.Tyr197=) rs781768770
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.604A>G (p.Lys202Glu)
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.612G>A (p.Val204=)
NM_178857.6(RP1L1):c.617C>A (p.Ser206Ter) rs760447634
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.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.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.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.681C>G (p.Thr227=) rs758897868
NM_178857.6(RP1L1):c.681C>T (p.Thr227=) rs758897868
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.714T>A (p.Ala238=) rs763914928
NM_178857.6(RP1L1):c.730C>T (p.Leu244=)
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.78G>A (p.Ser26=) rs773438295
NM_178857.6(RP1L1):c.78G>T (p.Ser26=)
NM_178857.6(RP1L1):c.81C>T (p.Val27=)
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.99C>T (p.Ala33=) rs2117227190

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