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
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NM_178857.6(RP1L1):c.254G>A (p.Arg85Gln)
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NM_178857.6(RP1L1):c.255G>C (p.Arg85=)
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NM_178857.6(RP1L1):c.256G>A (p.Gly86Ser)
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NM_178857.6(RP1L1):c.258C>T (p.Gly86=)
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NM_178857.6(RP1L1):c.25C>T (p.Gln9Ter)
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rs1486810062
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NM_178857.6(RP1L1):c.274G>T (p.Ala92Ser)
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NM_178857.6(RP1L1):c.275C>T (p.Ala92Val)
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rs886062586
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NM_178857.6(RP1L1):c.280G>C (p.Glu94Gln)
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rs942687332
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NM_178857.6(RP1L1):c.29C>A (p.Ala10Asp)
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NM_178857.6(RP1L1):c.302_303delinsTG (p.Cys101Leu)
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rs2117226528
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NM_178857.6(RP1L1):c.303C>T (p.Cys101=)
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rs756926025
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NM_178857.6(RP1L1):c.311G>A (p.Cys104Tyr)
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NM_178857.6(RP1L1):c.313T>C (p.Ser105Pro)
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NM_178857.6(RP1L1):c.321G>C (p.Lys107Asn)
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NM_178857.6(RP1L1):c.325C>A (p.Pro109Thr)
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rs753986463
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NM_178857.6(RP1L1):c.326C>A (p.Pro109His)
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rs761018819
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NM_178857.6(RP1L1):c.329C>G (p.Pro110Arg)
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rs536817048
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NM_178857.6(RP1L1):c.330C>G (p.Pro110=)
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NM_178857.6(RP1L1):c.330C>T (p.Pro110=)
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NM_178857.6(RP1L1):c.330del (p.Lys111fs)
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rs770312128
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NM_178857.6(RP1L1):c.330dup (p.Lys111fs)
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rs770312128
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NM_178857.6(RP1L1):c.331A>G (p.Lys111Glu)
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NM_178857.6(RP1L1):c.332del (p.Lys111fs)
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rs1798088088
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NM_178857.6(RP1L1):c.333G>A (p.Lys111=)
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NM_178857.6(RP1L1):c.335C>T (p.Thr112Ile)
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rs6601495
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NM_178857.6(RP1L1):c.336C>A (p.Thr112=)
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NM_178857.6(RP1L1):c.342T>G (p.Ser114Arg)
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NM_178857.6(RP1L1):c.344G>A (p.Gly115Glu)
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NM_178857.6(RP1L1):c.346C>T (p.Pro116Ser)
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NM_178857.6(RP1L1):c.347C>G (p.Pro116Arg)
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NM_178857.6(RP1L1):c.348A>T (p.Pro116=)
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NM_178857.6(RP1L1):c.353_356del (p.Arg118fs)
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NM_178857.6(RP1L1):c.354G>A (p.Arg118=)
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rs753937136
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NM_178857.6(RP1L1):c.355C>T (p.Pro119Ser)
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NM_178857.6(RP1L1):c.356C>T (p.Pro119Leu)
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NM_178857.6(RP1L1):c.35G>T (p.Ser12Ile)
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NM_178857.6(RP1L1):c.360G>T (p.Gln120His)
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NM_178857.6(RP1L1):c.361G>A (p.Glu121Lys)
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rs750614061
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NM_178857.6(RP1L1):c.363G>T (p.Glu121Asp)
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NM_178857.6(RP1L1):c.365G>C (p.Arg122Thr)
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NM_178857.6(RP1L1):c.36C>A (p.Ser12Arg)
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NM_178857.6(RP1L1):c.370C>G (p.Pro124Ala)
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NM_178857.6(RP1L1):c.376G>A (p.Ala126Thr)
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rs2117226221
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NM_178857.6(RP1L1):c.376G>T (p.Ala126Ser)
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NM_178857.6(RP1L1):c.377C>T (p.Ala126Val)
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NM_178857.6(RP1L1):c.37C>T (p.His13Tyr)
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NM_178857.6(RP1L1):c.380A>T (p.Gln127Leu)
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rs1309991756
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NM_178857.6(RP1L1):c.381G>C (p.Gln127His)
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NM_178857.6(RP1L1):c.384G>C (p.Gln128His)
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NM_178857.6(RP1L1):c.384G>T (p.Gln128His)
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rs763495243
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NM_178857.6(RP1L1):c.386T>C (p.Leu129Ser)
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rs1798086332
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NM_178857.6(RP1L1):c.388C>T (p.Arg130Trp)
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NM_178857.6(RP1L1):c.398A>G (p.Glu133Gly)
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rs780152398
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NM_178857.6(RP1L1):c.403C>T (p.Gln135Ter)
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rs2117226120
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NM_178857.6(RP1L1):c.404A>G (p.Gln135Arg)
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rs1798085612
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NM_178857.6(RP1L1):c.40C>A (p.Arg14Ser)
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rs765708710
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NM_178857.6(RP1L1):c.415C>T (p.Pro139Ser)
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NM_178857.6(RP1L1):c.416C>T (p.Pro139Leu)
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NM_178857.6(RP1L1):c.416dup (p.Gly140fs)
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rs201192645
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NM_178857.6(RP1L1):c.41G>A (p.Arg14His)
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rs544332270
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NM_178857.6(RP1L1):c.420C>T (p.Gly140=)
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rs79465957
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NM_178857.6(RP1L1):c.422C>A (p.Thr141Asn)
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NM_178857.6(RP1L1):c.423C>G (p.Thr141=)
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NM_178857.6(RP1L1):c.424T>A (p.Ser142Thr)
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NM_178857.6(RP1L1):c.424T>G (p.Ser142Ala)
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NM_178857.6(RP1L1):c.424TCC[2] (p.Ser144del)
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rs771757943
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NM_178857.6(RP1L1):c.426C>T (p.Ser142=)
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NM_178857.6(RP1L1):c.428C>A (p.Ser143Tyr)
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rs774003548
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NM_178857.6(RP1L1):c.429C>G (p.Ser143=)
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rs377067278
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NM_178857.6(RP1L1):c.429C>T (p.Ser143=)
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NM_178857.6(RP1L1):c.435G>A (p.Arg145=)
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NM_178857.6(RP1L1):c.435del (p.Lys146fs)
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rs747832575
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NM_178857.6(RP1L1):c.439_440del (p.Ser147_Leu148insTer)
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NM_178857.6(RP1L1):c.442C>G (p.Leu148Val)
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NM_178857.6(RP1L1):c.448A>G (p.Thr150Ala)
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rs377360026
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NM_178857.6(RP1L1):c.449C>T (p.Thr150Ile)
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rs758699416
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NM_178857.6(RP1L1):c.452C>G (p.Pro151Arg)
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NM_178857.6(RP1L1):c.454C>G (p.Arg152Gly)
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rs749896033
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NM_178857.6(RP1L1):c.454C>T (p.Arg152Trp)
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NM_178857.6(RP1L1):c.454del (p.Arg152fs)
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rs778634096
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NM_178857.6(RP1L1):c.454dup (p.Arg152fs)
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NM_178857.6(RP1L1):c.459G>T (p.Arg153Ser)
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NM_178857.6(RP1L1):c.460dup (p.Ile154fs)
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NM_178857.6(RP1L1):c.471T>G (p.Ile157Met)
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NM_178857.6(RP1L1):c.473A>G (p.Lys158Arg)
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rs1337509737
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NM_178857.6(RP1L1):c.476A>G (p.Asn159Ser)
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NM_178857.6(RP1L1):c.477C>A (p.Asn159Lys)
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rs769690517
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NM_178857.6(RP1L1):c.477C>G (p.Asn159Lys)
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rs769690517
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NM_178857.6(RP1L1):c.478A>C (p.Met160Leu)
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rs369240307
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NM_178857.6(RP1L1):c.480G>T (p.Met160Ile)
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rs868474754
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NM_178857.6(RP1L1):c.481_567dup (p.Leu189_Arg190insAspProArgLeuGlnGlnThrValValLeuSerHisArgAsnThrArgAsnLeuAlaAlaPheLeuGlyLysAlaSerAspLeuLeu)
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NM_178857.6(RP1L1):c.484C>G (p.Pro162Ala)
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rs776563038
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NM_178857.6(RP1L1):c.487C>T (p.Arg163Cys)
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NM_178857.6(RP1L1):c.489C>A (p.Arg163=)
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rs201167741
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NM_178857.6(RP1L1):c.496C>G (p.Gln166Glu)
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NM_178857.6(RP1L1):c.498G>A (p.Gln166=)
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rs1554454548
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NM_178857.6(RP1L1):c.499A>T (p.Thr167Ser)
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rs762735738
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NM_178857.6(RP1L1):c.512G>A (p.Ser171Asn)
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NM_178857.6(RP1L1):c.528G>C (p.Arg176Ser)
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NM_178857.6(RP1L1):c.529A>T (p.Asn177Tyr)
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NM_178857.6(RP1L1):c.537C>G (p.Ala179=)
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NM_178857.6(RP1L1):c.538G>A (p.Ala180Thr)
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rs181942944
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NM_178857.6(RP1L1):c.547G>T (p.Gly183Cys)
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NM_178857.6(RP1L1):c.548G>T (p.Gly183Val)
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NM_178857.6(RP1L1):c.556T>C (p.Ser186Pro)
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rs201308431
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NM_178857.6(RP1L1):c.55C>A (p.Pro19Thr)
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NM_178857.6(RP1L1):c.564C>A (p.Leu188=)
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NM_178857.6(RP1L1):c.565C>G (p.Leu189Val)
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rs1303507157
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NM_178857.6(RP1L1):c.567_568insGACCCTCGCCTCCAGCAGACGGTGGTTCTCAGTCACAGGAATACTAGGAACCTGGCCGCCTTTCTCGGCAAAGCCTCAGATCTCCTG (p.Leu189_Arg190insAspProArgLeuGlnGlnThrValValLeuSerHisArgAsnThrArgAsnLeuAlaAlaPheLeuGlyLysAlaSerAspLeuLeu)
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NM_178857.6(RP1L1):c.572T>G (p.Phe191Cys)
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NM_178857.6(RP1L1):c.575C>G (p.Pro192Arg)
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NM_178857.6(RP1L1):c.591C>T (p.Tyr197=)
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rs781768770
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NM_178857.6(RP1L1):c.594G>A (p.Thr198=)
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rs778582315
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NM_178857.6(RP1L1):c.599G>C (p.Ser200Thr)
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NM_178857.6(RP1L1):c.600C>T (p.Ser200=)
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rs374460999
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NM_178857.6(RP1L1):c.602G>A (p.Gly201Glu)
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rs760475719
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NM_178857.6(RP1L1):c.604A>G (p.Lys202Glu)
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NM_178857.6(RP1L1):c.609+13G>A
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NM_178857.6(RP1L1):c.609+18G>C
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NM_178857.6(RP1L1):c.609+20C>A
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rs370442562
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NM_178857.6(RP1L1):c.609+20C>T
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NM_178857.6(RP1L1):c.609+5G>A
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rs774344793
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NM_178857.6(RP1L1):c.60T>G (p.Ser20=)
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NM_178857.6(RP1L1):c.610-17G>T
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NM_178857.6(RP1L1):c.610-19C>G
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rs1797970326
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NM_178857.6(RP1L1):c.610-668_639del
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NM_178857.6(RP1L1):c.612G>A (p.Val204=)
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NM_178857.6(RP1L1):c.617C>A (p.Ser206Ter)
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rs760447634
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NM_178857.6(RP1L1):c.618G>A (p.Ser206=)
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rs779020216
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NM_178857.6(RP1L1):c.618G>T (p.Ser206=)
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rs779020216
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NM_178857.6(RP1L1):c.619C>T (p.Leu207=)
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rs1425727509
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NM_178857.6(RP1L1):c.622C>T (p.Gln208Ter)
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rs201753844
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NM_178857.6(RP1L1):c.629_641del (p.Leu210fs)
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rs2117213401
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NM_178857.6(RP1L1):c.631C>T (p.Leu211=)
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rs780247256
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NM_178857.6(RP1L1):c.633G>A (p.Leu211=)
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NM_178857.6(RP1L1):c.637A>G (p.Ser213Gly)
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NM_178857.6(RP1L1):c.637A>T (p.Ser213Cys)
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NM_178857.6(RP1L1):c.640C>G (p.Pro214Ala)
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NM_178857.6(RP1L1):c.659C>T (p.Ala220Val)
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rs2117213347
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NM_178857.6(RP1L1):c.660C>T (p.Ala220=)
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NM_178857.6(RP1L1):c.661G>A (p.Gly221Arg)
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NM_178857.6(RP1L1):c.661G>C (p.Gly221Arg)
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NM_178857.6(RP1L1):c.672C>T (p.Ala224=)
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NM_178857.6(RP1L1):c.681C>G (p.Thr227=)
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rs758897868
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NM_178857.6(RP1L1):c.681C>T (p.Thr227=)
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rs758897868
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NM_178857.6(RP1L1):c.689T>C (p.Met230Thr)
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NM_178857.6(RP1L1):c.708C>T (p.Ser236=)
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NM_178857.6(RP1L1):c.713C>A (p.Ala238Asp)
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NM_178857.6(RP1L1):c.714T>A (p.Ala238=)
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rs763914928
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NM_178857.6(RP1L1):c.730C>T (p.Leu244=)
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NM_178857.6(RP1L1):c.751+17G>A
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NM_178857.6(RP1L1):c.751+6T>C
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NM_178857.6(RP1L1):c.751+9G>C
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NM_178857.6(RP1L1):c.751G>A (p.Gly251Arg)
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rs201120801
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NM_178857.6(RP1L1):c.78G>A (p.Ser26=)
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rs773438295
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NM_178857.6(RP1L1):c.78G>T (p.Ser26=)
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NM_178857.6(RP1L1):c.81C>T (p.Val27=)
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NM_178857.6(RP1L1):c.86A>T (p.Lys29Met)
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NM_178857.6(RP1L1):c.88G>A (p.Val30Ile)
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NM_178857.6(RP1L1):c.88G>T (p.Val30Phe)
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rs968564698
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NM_178857.6(RP1L1):c.99C>T (p.Ala33=)
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rs2117227190
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