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
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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.3058C>A (p.Gln1020Lys)
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NM_178857.6(RP1L1):c.3115G>A (p.Gly1039Arg)
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rs1797838030
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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.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.3322G>A (p.Ala1108Thr)
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rs981198123
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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.335C>T (p.Thr112Ile)
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rs6601495
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NM_178857.6(RP1L1):c.3413_3414del (p.Lys1138fs)
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rs766948560
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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.353_356del (p.Arg118fs)
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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.3595T>G (p.Ser1199Ala)
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rs1797825562
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NM_178857.6(RP1L1):c.3596C>G (p.Ser1199Cys)
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rs863225442
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NM_178857.6(RP1L1):c.3599G>A (p.Gly1200Asp)
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rs964723839
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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.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.3968A>T (p.Glu1323Val)
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rs1277484313
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NM_178857.6(RP1L1):c.3970_3971insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG (p.Glu1323_Glu1324insGlyThrLysValIleGluGlyLeuGlnGluGluArgValGlnLeuGlu)
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rs369606728
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NM_178857.6(RP1L1):c.3971A>G (p.Glu1324Gly)
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rs4240659
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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.4018_4019insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG (p.Glu1339_Glu1340insGlyThrLysValIleGluGlyLeuGlnGluGluArgValGlnLeuGlu)
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rs1585963467
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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.4177G>A (p.Gly1393Ser)
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rs762439244
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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.422C>A (p.Thr141Asn)
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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.428C>A (p.Ser143Tyr)
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rs774003548
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NM_178857.6(RP1L1):c.4306T>C (p.Ser1436Pro)
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rs756335904
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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.4769C>A (p.Pro1590His)
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rs372867998
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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.4831C>G (p.Arg1611Gly)
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rs199604262
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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.496C>G (p.Gln166Glu)
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NM_178857.6(RP1L1):c.498G>C (p.Gln166His)
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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.5015C>T (p.Pro1672Leu)
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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.5293G>A (p.Gly1765Arg)
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NM_178857.6(RP1L1):c.5294_5301delinsAAGATGAC (p.Gly1765_Ala1767delinsGluAspAsp)
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NM_178857.6(RP1L1):c.529A>T (p.Asn177Tyr)
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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.539C>T (p.Ala180Val)
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NM_178857.6(RP1L1):c.5467G>A (p.Asp1823Asn)
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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.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.5706G>T (p.Glu1902Asp)
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rs2117192752
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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.5785G>T (p.Gly1929Trp)
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rs769602264
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NM_178857.6(RP1L1):c.5821C>T (p.Gln1941Ter)
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rs201017122
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NM_178857.6(RP1L1):c.5879_6487del (p.Val1960_Glu2162del)
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NM_178857.6(RP1L1):c.592A>G (p.Thr198Ala)
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rs1798078707
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NM_178857.6(RP1L1):c.599G>C (p.Ser200Thr)
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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+20C>A
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rs370442562
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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.610-668_639del
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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.6185_6226del (p.Glu2062_Glu2075del)
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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.6286C>T (p.Pro2096Ser)
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rs374414796
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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.6376C>T (p.Gln2126Ter)
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rs1064796755
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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.6427_6453del (p.Pro2143_Gln2151del)
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rs763500127
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NM_178857.6(RP1L1):c.6442G>T (p.Val2148Leu)
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rs200283060
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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.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.689T>C (p.Met230Thr)
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NM_178857.6(RP1L1):c.713C>A (p.Ala238Asp)
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NM_178857.6(RP1L1):c.751+6T>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.755G>C (p.Ser252Thr)
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NM_178857.6(RP1L1):c.803C>A (p.Pro268Gln)
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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.94C>T (p.Pro32Ser)
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