NM_178857.6(RP1L1):c.190C>T (p.Leu64Phe)
|
rs202081611
|
0.00043
|
NM_178857.6(RP1L1):c.526A>G (p.Arg176Gly)
|
rs187343209
|
0.00039
|
NM_178857.6(RP1L1):c.455G>A (p.Arg152Gln)
|
rs200213603
|
0.00030
|
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.71C>T (p.Thr24Ile)
|
rs771358254
|
0.00011
|
NM_178857.6(RP1L1):c.134G>A (p.Arg45Gln)
|
rs770740394
|
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.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.206C>T (p.Ser69Phe)
|
rs376627166
|
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.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.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.569G>A (p.Arg190His)
|
rs760999157
|
0.00003
|
NM_178857.6(RP1L1):c.626C>T (p.Ala209Val)
|
rs1458491829
|
0.00003
|
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.44A>G (p.Glu15Gly)
|
rs575228025
|
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.202C>T (p.Leu68Phe)
|
rs902459185
|
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.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.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
|
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.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.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.220C>G (p.Leu74Val)
|
|
|
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.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.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.332del (p.Lys111fs)
|
rs1798088088
|
|
NM_178857.6(RP1L1):c.335C>T (p.Thr112Ile)
|
rs6601495
|
|
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.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.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.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.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.496C>G (p.Gln166Glu)
|
|
|
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.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.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.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.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.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.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.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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