ClinVar Miner

List of variants in gene RP1L1

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Gene type:
ClinVar version:
Total variants: 322
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HGVS dbSNP
GRCh37/hg19 8p23.1(chr8:10447116-10504819)
GRCh37/hg19 8p23.1(chr8:10448142-10503525)x1
GRCh37/hg19 8p23.1(chr8:10464206-10467207)x1
GRCh37/hg19 8p23.1(chr8:10466702-10467160)x1
NM_178857.6(RP1L1):c.*199C>T rs12542075
NM_178857.6(RP1L1):c.*200G>A rs544642796
NM_178857.6(RP1L1):c.*226G>C rs12547192
NM_178857.6(RP1L1):c.*244C>T rs12542071
NM_178857.6(RP1L1):c.*265G>T rs567494148
NM_178857.6(RP1L1):c.*266C>T rs557198895
NM_178857.6(RP1L1):c.*27del rs143284016
NM_178857.6(RP1L1):c.*307T>C rs146542491
NM_178857.6(RP1L1):c.*330T>G rs60196627
NM_178857.6(RP1L1):c.*335T>G rs58309857
NM_178857.6(RP1L1):c.*356C>G rs79353166
NM_178857.6(RP1L1):c.*38C>G rs374533327
NM_178857.6(RP1L1):c.*444T>A rs530449457
NM_178857.6(RP1L1):c.*461T>G rs7816990
NM_178857.6(RP1L1):c.*495G>A rs886062572
NM_178857.6(RP1L1):c.*513G>C rs181865746
NM_178857.6(RP1L1):c.*98C>T rs12542104
NM_178857.6(RP1L1):c.*99C>A rs886062573
NM_178857.6(RP1L1):c.-123C>G rs9969466
NM_178857.6(RP1L1):c.-12A>C rs762179825
NM_178857.6(RP1L1):c.-153C>A rs570111920
NM_178857.6(RP1L1):c.-165G>A rs550213627
NM_178857.6(RP1L1):c.-208C>A rs753924039
NM_178857.6(RP1L1):c.-49G>A rs189109596
NM_178857.6(RP1L1):c.1007C>T (p.Thr336Met) rs201195142
NM_178857.6(RP1L1):c.1067A>T (p.Asp356Val) rs750107135
NM_178857.6(RP1L1):c.1090C>G (p.Pro364Ala) rs372699223
NM_178857.6(RP1L1):c.109A>G (p.Thr37Ala) rs755268691
NM_178857.6(RP1L1):c.1106G>T (p.Trp369Leu) rs369268494
NM_178857.6(RP1L1):c.1128C>G (p.Phe376Leu) rs372681428
NM_178857.6(RP1L1):c.1138G>A (p.Gly380Arg) rs184332984
NM_178857.6(RP1L1):c.117C>G (p.Leu39=) rs751004024
NM_178857.6(RP1L1):c.122G>A (p.Arg41Gln) rs536131729
NM_178857.6(RP1L1):c.1251_1252AG[5] (p.Val420fs) rs764382843
NM_178857.6(RP1L1):c.1268G>C (p.Arg423Pro) rs566321002
NM_178857.6(RP1L1):c.1271A>G (p.Lys424Arg) rs371110197
NM_178857.6(RP1L1):c.1273A>C (p.Arg425=) rs377274495
NM_178857.6(RP1L1):c.1297C>T (p.Arg433Cys) rs199589914
NM_178857.6(RP1L1):c.130C>G (p.Pro44Ala) rs140397694
NM_178857.6(RP1L1):c.1320C>T (p.His440=) rs137914071
NM_178857.6(RP1L1):c.133C>T (p.Arg45Trp) rs267607017
NM_178857.6(RP1L1):c.1340G>C (p.Arg447Thr) rs771401456
NM_178857.6(RP1L1):c.1378G>A (p.Gly460Ser) rs369924450
NM_178857.6(RP1L1):c.1434C>T (p.Asp478=) rs138367868
NM_178857.6(RP1L1):c.1436G>A (p.Gly479Glu) rs867863562
NM_178857.6(RP1L1):c.1460C>T (p.Ala487Val) rs74400517
NM_178857.6(RP1L1):c.1478G>A (p.Arg493Gln) rs79401306
NM_178857.6(RP1L1):c.148C>T (p.Arg50Cys) rs369908377
NM_178857.6(RP1L1):c.1540G>A (p.Gly514Ser) rs74990397
NM_178857.6(RP1L1):c.1549C>T (p.Gln517Ter) rs767562322
NM_178857.6(RP1L1):c.1551A>G (p.Gln517=) rs761588903
NM_178857.6(RP1L1):c.1555G>A (p.Gly519Ser) rs775657453
NM_178857.6(RP1L1):c.1599G>A (p.Ser533=) rs201785951
NM_178857.6(RP1L1):c.1616C>T (p.Thr539Ile) rs1168570410
NM_178857.6(RP1L1):c.166C>T (p.Arg56Cys) rs150931842
NM_178857.6(RP1L1):c.1682C>A (p.Ala561Asp) rs1013927022
NM_178857.6(RP1L1):c.168C>A (p.Arg56=) rs187433303
NM_178857.6(RP1L1):c.1762G>T (p.Asp588Tyr) rs200344135
NM_178857.6(RP1L1):c.1779G>A (p.Thr593=) rs78127667
NM_178857.6(RP1L1):c.1791C>T (p.Gly597=) rs6996950
NM_178857.6(RP1L1):c.1806G>C (p.Thr602=) rs374308509
NM_178857.6(RP1L1):c.1821A>C (p.Thr607=) rs760134129
NM_178857.6(RP1L1):c.1862C>G (p.Ser621Trp) rs778222700
NM_178857.6(RP1L1):c.1870G>A (p.Ala624Thr) rs141846905
NM_178857.6(RP1L1):c.1958G>A (p.Ser653Asn) rs761344455
NM_178857.6(RP1L1):c.1972C>T (p.Arg658Ter) rs527236107
NM_178857.6(RP1L1):c.2028C>G (p.Ser676Arg) rs200474804
NM_178857.6(RP1L1):c.2037C>G (p.Asp679Glu) rs760621847
NM_178857.6(RP1L1):c.2049C>T (p.Thr683=) rs146670053
NM_178857.6(RP1L1):c.2061G>C (p.Pro687=) rs200963001
NM_178857.6(RP1L1):c.2068C>G (p.Pro690Ala) rs1036667471
NM_178857.6(RP1L1):c.2129G>A (p.Ser710Asn) rs1554452227
NM_178857.6(RP1L1):c.212G>A (p.Arg71His) rs200996822
NM_178857.6(RP1L1):c.2154C>A (p.Asn718Lys) rs181556707
NM_178857.6(RP1L1):c.2157G>C (p.Leu719=) rs547631676
NM_178857.6(RP1L1):c.2172G>A (p.Ser724=) rs73662876
NM_178857.6(RP1L1):c.2174G>T (p.Gly725Val) rs529460241
NM_178857.6(RP1L1):c.217C>T (p.Pro73Ser) rs202082944
NM_178857.6(RP1L1):c.2191G>A (p.Asp731Asn) rs768251529
NM_178857.6(RP1L1):c.2268C>T (p.Asn756=) rs57819090
NM_178857.6(RP1L1):c.2316G>A (p.Ser772=) rs62490857
NM_178857.6(RP1L1):c.2319G>A (p.Pro773=) rs376509567
NM_178857.6(RP1L1):c.2325C>A (p.Pro775=) rs1563124477
NM_178857.6(RP1L1):c.2327del (p.Ile776fs) rs1563124470
NM_178857.6(RP1L1):c.235C>T (p.Arg79Cys) rs377269054
NM_178857.6(RP1L1):c.2365G>A (p.Ala789Thr) rs535712025
NM_178857.6(RP1L1):c.2375T>C (p.Leu792Pro) rs35602868
NM_178857.6(RP1L1):c.2383G>A (p.Glu795Lys) rs199746022
NM_178857.6(RP1L1):c.2396C>T (p.Thr799Met) rs371519198
NM_178857.6(RP1L1):c.2398C>A (p.Pro800Thr) rs142820770
NM_178857.6(RP1L1):c.23C>G (p.Ala8Gly) rs886062587
NM_178857.6(RP1L1):c.2413C>G (p.Pro805Ala) rs753260358
NM_178857.6(RP1L1):c.2441A>G (p.Glu814Gly) rs190447684
NM_178857.6(RP1L1):c.2456G>C (p.Gly819Ala) rs201576854
NM_178857.6(RP1L1):c.2469C>T (p.Ser823=) rs368842714
NM_178857.6(RP1L1):c.2499G>A (p.Pro833=) rs373310698
NM_178857.6(RP1L1):c.249A>G (p.Thr83=) rs201392821
NM_178857.6(RP1L1):c.24C>G (p.Ala8=) rs374965485
NM_178857.6(RP1L1):c.2568G>A (p.Pro856=) rs367933781
NM_178857.6(RP1L1):c.2578C>T (p.Arg860Trp) rs62490856
NM_178857.6(RP1L1):c.2620G>A (p.Gly874Ser) rs12114682
NM_178857.6(RP1L1):c.2643C>T (p.Ala881=) rs374382227
NM_178857.6(RP1L1):c.2644C>T (p.Arg882Trp) rs148936402
NM_178857.6(RP1L1):c.2732G>T (p.Ser911Ile) rs757352407
NM_178857.6(RP1L1):c.273C>T (p.Ser91=) rs201810499
NM_178857.6(RP1L1):c.2751G>A (p.Ala917=) rs373883834
NM_178857.6(RP1L1):c.275C>T (p.Ala92Val) rs886062586
NM_178857.6(RP1L1):c.2780C>A (p.Thr927Asn) rs77230188
NM_178857.6(RP1L1):c.2791G>C (p.Gly931Arg) rs200981366
NM_178857.6(RP1L1):c.283C>T (p.Gln95Ter) rs1563131180
NM_178857.6(RP1L1):c.2845C>T (p.Pro949Ser) rs754126350
NM_178857.6(RP1L1):c.2849G>A (p.Arg950His) rs201968725
NM_178857.6(RP1L1):c.2850C>T (p.Arg950=) rs542085308
NM_178857.6(RP1L1):c.2878T>C (p.Trp960Arg) rs267607018
NM_178857.6(RP1L1):c.2899G>A (p.Glu967Lys) rs201302817
NM_178857.6(RP1L1):c.289G>C (p.Glu97Gln) rs142083988
NM_178857.6(RP1L1):c.2915C>G (p.Thr972Arg) rs374466650
NM_178857.6(RP1L1):c.2923T>A (p.Leu975Met) rs146002320
NM_178857.6(RP1L1):c.2927C>T (p.Ala976Val)
NM_178857.6(RP1L1):c.2928G>A (p.Ala976=) rs770072844
NM_178857.6(RP1L1):c.2977G>A (p.Asp993Asn) rs144078596
NM_178857.6(RP1L1):c.2991C>G (p.Asp997Glu) rs188482891
NM_178857.6(RP1L1):c.2992C>A (p.His998Asn) rs377428634
NM_178857.6(RP1L1):c.3019G>A (p.Ala1007Thr) rs886062584
NM_178857.6(RP1L1):c.3022C>G (p.Gln1008Glu) rs756996764
NM_178857.6(RP1L1):c.3022C>T (p.Gln1008Ter) rs756996764
NM_178857.6(RP1L1):c.3027G>A (p.Ala1009=) rs201640796
NM_178857.6(RP1L1):c.3194C>T (p.Pro1065Leu) rs774639195
NM_178857.6(RP1L1):c.3200G>C (p.Gly1067Ala) rs201393573
NM_178857.6(RP1L1):c.3201C>T (p.Gly1067=) rs200462441
NM_178857.6(RP1L1):c.3231C>G (p.Gly1077=) rs779905669
NM_178857.6(RP1L1):c.324_325insT (p.Pro109fs) rs138816053
NM_178857.6(RP1L1):c.3255C>G (p.Ile1085Met) rs150752593
NM_178857.6(RP1L1):c.3263C>T (p.Ala1088Val) rs200477735
NM_178857.6(RP1L1):c.326_327insT (p.Lys111fs) rs771427543
NM_178857.6(RP1L1):c.328C>T (p.Pro110Ser) rs773440242
NM_178857.6(RP1L1):c.329C>T (p.Pro110Leu) rs536817048
NM_178857.6(RP1L1):c.3303C>G (p.Pro1101=) rs374612639
NM_178857.6(RP1L1):c.3303C>T (p.Pro1101=) rs374612639
NM_178857.6(RP1L1):c.3304G>C (p.Glu1102Gln) rs575772322
NM_178857.6(RP1L1):c.3340T>A (p.Ser1114Thr) rs559059729
NM_178857.6(RP1L1):c.335C>G (p.Thr112Ser) rs6601495
NM_178857.6(RP1L1):c.3378G>A (p.Gln1126=) rs886062583
NM_178857.6(RP1L1):c.337C>T (p.Pro113Ser) rs201245739
NM_178857.6(RP1L1):c.33G>A (p.Pro11=) rs80059299
NM_178857.6(RP1L1):c.3431C>G (p.Ser1144Cys) rs763480431
NM_178857.6(RP1L1):c.3436C>T (p.Arg1146Trp) rs4840502
NM_178857.6(RP1L1):c.3514C>A (p.Leu1172Ile) rs143870426
NM_178857.6(RP1L1):c.352C>T (p.Arg118Trp) rs200121539
NM_178857.6(RP1L1):c.3582G>T (p.Thr1194=) rs200519322
NM_178857.6(RP1L1):c.3596C>G (p.Ser1199Cys) rs863225442
NM_178857.6(RP1L1):c.3660C>T (p.Asp1220=) rs375441998
NM_178857.6(RP1L1):c.3664A>G (p.Thr1222Ala) rs886062582
NM_178857.6(RP1L1):c.3691C>T (p.Pro1231Ser) rs201440296
NM_178857.6(RP1L1):c.3732T>G (p.Tyr1244Ter) rs373278754
NM_178857.6(RP1L1):c.3779C>G (p.Thr1260Ser) rs186517479
NM_178857.6(RP1L1):c.3836A>C (p.Asp1279Ala) rs886062581
NM_178857.6(RP1L1):c.3921A>G (p.Lys1307=) rs747175462
NM_178857.6(RP1L1):c.394G>A (p.Val132Ile) rs747870004
NM_178857.6(RP1L1):c.3955G>A (p.Ala1319Thr) rs73201156
NM_178857.6(RP1L1):c.3956C>G (p.Ala1319Gly) rs4840501
NM_178857.6(RP1L1):c.3956_3957insAAGAAGAGAG (p.Val1320fs) rs773894295
NM_178857.6(RP1L1):c.3956delinsGGGTGCAGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAGAG (p.Ala1319delinsGlyValGlnLeuGluGluThrLysThrGluGluGlyLeuGlnGluGluArg) rs886062580
NM_178857.6(RP1L1):c.3961C>G (p.Gln1321Glu) rs200373757
NM_178857.6(RP1L1):c.3970_3971insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG (p.Glu1324_Thr1325insGlyThrLysValIleGluGlyLeuGlnGluGluArgValGlnLeuGlu) rs369606728
NM_178857.6(RP1L1):c.3971A>G (p.Glu1324Gly) rs4240659
NM_178857.6(RP1L1):c.3972A>G (p.Glu1324=) rs4840500
NM_178857.6(RP1L1):c.3978_3979insGAA (p.Thr1327_Glu1328insGlu) rs146656804
NM_178857.6(RP1L1):c.4003G>A (p.Gly1335Arg) rs61503212
NM_178857.6(RP1L1):c.4004G>T (p.Gly1335Val) rs74366179
NM_178857.6(RP1L1):c.4004_4005insT (p.Val1336fs) rs781490139
NM_178857.6(RP1L1):c.4019A>G (p.Glu1340Gly) rs9657518
NM_178857.6(RP1L1):c.4019_4027delinsGGACTA (p.Glu1340_Glu1343delinsGlyThrLys) rs886062579
NM_178857.6(RP1L1):c.4020A>G (p.Glu1340=) rs78920388
NM_178857.6(RP1L1):c.4027_4029del (p.Glu1343del) rs143686100
NM_178857.6(RP1L1):c.4032A>G (p.Thr1344=) rs4840499
NM_178857.6(RP1L1):c.4062G>A (p.Ala1354=) rs375108865
NM_178857.6(RP1L1):c.407G>A (p.Arg136His) rs189960401
NM_178857.6(RP1L1):c.4088_4090GAG[1] (p.Gly1364del) rs886062578
NM_178857.6(RP1L1):c.4091G>C (p.Gly1364Ala) rs116752225
NM_178857.6(RP1L1):c.40C>G (p.Arg14Gly) rs765708710
NM_178857.6(RP1L1):c.416dup (p.Gly140fs) rs201192645
NM_178857.6(RP1L1):c.420C>A (p.Gly140=) rs79465957
NM_178857.6(RP1L1):c.424_426TCC[2] (p.Ser144del)
NM_178857.6(RP1L1):c.4273G>C (p.Asp1425His) rs201205913
NM_178857.6(RP1L1):c.4275C>A (p.Asp1425Glu) rs182279724
NM_178857.6(RP1L1):c.428C>T (p.Ser143Phe) rs774003548
NM_178857.6(RP1L1):c.4323G>A (p.Pro1441=) rs199802369
NM_178857.6(RP1L1):c.4401G>T (p.Arg1467Ser) rs4840498
NM_178857.6(RP1L1):c.4440G>A (p.Pro1480=) rs76720252
NM_178857.6(RP1L1):c.4444G>A (p.Gly1482Arg) rs190000469
NM_178857.6(RP1L1):c.4448C>T (p.Ala1483Val) rs62490855
NM_178857.6(RP1L1):c.444T>G (p.Leu148=) rs112609335
NM_178857.6(RP1L1):c.4478C>T (p.Ala1493Val) rs138261433
NM_178857.6(RP1L1):c.4482A>G (p.Gln1494=) rs201357374
NM_178857.6(RP1L1):c.4484C>G (p.Pro1495Arg) rs4841399
NM_178857.6(RP1L1):c.449C>T (p.Thr150Ile) rs758699416
NM_178857.6(RP1L1):c.4514C>T (p.Ser1505Leu) rs202068070
NM_178857.6(RP1L1):c.4542C>T (p.Cys1514=) rs773430949
NM_178857.6(RP1L1):c.4577C>T (p.Thr1526Met) rs267601688
NM_178857.6(RP1L1):c.4594G>A (p.Ala1532Thr) rs200131312
NM_178857.6(RP1L1):c.4610C>T (p.Ala1537Val) rs375128393
NM_178857.6(RP1L1):c.4620G>C (p.Glu1540Asp) rs115884793
NM_178857.6(RP1L1):c.4630C>T (p.Arg1544Cys) rs374999818
NM_178857.6(RP1L1):c.4662C>G (p.Asp1554Glu) rs374521681
NM_178857.6(RP1L1):c.4671G>A (p.Ala1557=) rs150438402
NM_178857.6(RP1L1):c.4725G>A (p.Glu1575=) rs200941554
NM_178857.6(RP1L1):c.4732_4734dup (p.Lys1578dup) rs142134028
NM_178857.6(RP1L1):c.4746G>A (p.Arg1582=) rs754155146
NM_178857.6(RP1L1):c.4769C>A (p.Pro1590His) rs372867998
NM_178857.6(RP1L1):c.4795C>G (p.Leu1599Val) rs201524117
NM_178857.6(RP1L1):c.4797G>T (p.Leu1599=) rs368140961
NM_178857.6(RP1L1):c.4831C>G (p.Arg1611Gly) rs199604262
NM_178857.6(RP1L1):c.4837C>A (p.Leu1613Met) rs181095314
NM_178857.6(RP1L1):c.4865G>A (p.Arg1622Gln) rs151260617
NM_178857.6(RP1L1):c.487C>G (p.Arg163Gly) rs187140236
NM_178857.6(RP1L1):c.488G>A (p.Arg163His) rs182807255
NM_178857.6(RP1L1):c.489C>A (p.Arg163=) rs201167741
NM_178857.6(RP1L1):c.4906G>A (p.Glu1636Lys) rs80094376
NM_178857.6(RP1L1):c.4953G>A (p.Ala1651=) rs79563676
NM_178857.6(RP1L1):c.498G>C (p.Gln166His) rs1554454548
NM_178857.6(RP1L1):c.501A>G (p.Thr167=) rs79329877
NM_178857.6(RP1L1):c.5126C>T (p.Ala1709Val) rs13267180
NM_178857.6(RP1L1):c.5132G>C (p.Gly1711Ala) rs200635063
NM_178857.6(RP1L1):c.5138C>A (p.Thr1713Asn) rs200130856
NM_178857.6(RP1L1):c.5211G>A (p.Gly1737=) rs201594207
NM_178857.6(RP1L1):c.5224G>A (p.Glu1742Lys) rs558895396
NM_178857.6(RP1L1):c.5278C>T (p.Leu1760Phe) rs762713239
NM_178857.6(RP1L1):c.5284G>A (p.Glu1762Lys) rs141128719
NM_178857.6(RP1L1):c.5308C>T (p.Gln1770Ter) rs986853401
NM_178857.6(RP1L1):c.5348C>T (p.Ala1783Val) rs374403002
NM_178857.6(RP1L1):c.5421C>G (p.Gly1807=) rs77593247
NM_178857.6(RP1L1):c.5447G>A (p.Gly1816Asp) rs79019225
NM_178857.6(RP1L1):c.5452G>A (p.Ala1818Thr) rs199701906
NM_178857.6(RP1L1):c.547G>A (p.Gly183Ser) rs115126172
NM_178857.6(RP1L1):c.5483A>C (p.Gln1828Pro) rs772616971
NM_178857.6(RP1L1):c.5519C>G (p.Ala1840Gly) rs77968698
NM_178857.6(RP1L1):c.5589T>A (p.Ala1863=) rs199577777
NM_178857.6(RP1L1):c.5598G>T (p.Glu1866Asp) rs181718385
NM_178857.6(RP1L1):c.5600C>A (p.Ala1867Asp) rs886062577
NM_178857.6(RP1L1):c.5602C>T (p.Gln1868Ter) rs1045490638
NM_178857.6(RP1L1):c.5618A>G (p.Asp1873Gly) rs200622636
NM_178857.6(RP1L1):c.5618A>T (p.Asp1873Val) rs200622636
NM_178857.6(RP1L1):c.5643A>G (p.Gly1881=) rs112534810
NM_178857.6(RP1L1):c.5646G>T (p.Glu1882Asp) rs111646478
NM_178857.6(RP1L1):c.5666A>T (p.Asp1889Val) rs28446662
NM_178857.6(RP1L1):c.568C>A (p.Arg190Ser) rs202110498
NM_178857.6(RP1L1):c.568C>T (p.Arg190Cys) rs202110498
NM_178857.6(RP1L1):c.5713G>A (p.Gly1905Ser) rs202121941
NM_178857.6(RP1L1):c.5761A>C (p.Ser1921Arg) rs149704659
NM_178857.6(RP1L1):c.5776G>T (p.Glu1926Ter) rs762800376
NM_178857.6(RP1L1):c.5793C>T (p.Asp1931=) rs747180512
NM_178857.6(RP1L1):c.5821C>G (p.Gln1941Glu) rs201017122
NM_178857.6(RP1L1):c.5821C>T (p.Gln1941Ter) rs201017122
NM_178857.6(RP1L1):c.5837C>A (p.Ala1946Glu) rs11785822
NM_178857.6(RP1L1):c.5860A>G (p.Thr1954Ala) rs11783478
NM_178857.6(RP1L1):c.5959C>T (p.Gln1987Ter) rs200846354
NM_178857.6(RP1L1):c.5966C>T (p.Ala1989Val) rs749665716
NM_178857.6(RP1L1):c.5997T>C (p.Asp1999=) rs78593181
NM_178857.6(RP1L1):c.603del (p.Lys203fs) rs387907367
NM_178857.6(RP1L1):c.6043G>T (p.Glu2015Ter) rs184873506
NM_178857.6(RP1L1):c.6063del (p.Asp2021fs) rs572305644
NM_178857.6(RP1L1):c.610-13G>A rs62490859
NM_178857.6(RP1L1):c.6118G>T (p.Glu2040Ter) rs201774530
NM_178857.6(RP1L1):c.6136G>A (p.Gly2046Arg) rs748879695
NM_178857.6(RP1L1):c.6159C>T (p.Asp2053=) rs368139274
NM_178857.6(RP1L1):c.6209A>T (p.Glu2070Val) rs11782670
NM_178857.6(RP1L1):c.622C>A (p.Gln208Lys) rs201753844
NM_178857.6(RP1L1):c.6264G>T (p.Gln2088His) rs11778341
NM_178857.6(RP1L1):c.6322G>A (p.Gly2108Arg) rs187998469
NM_178857.6(RP1L1):c.6329C>T (p.Ala2110Val) rs886062576
NM_178857.6(RP1L1):c.6344G>A (p.Gly2115Asp) rs139374902
NM_178857.6(RP1L1):c.6376C>T (p.Gln2126Ter) rs1064796755
NM_178857.6(RP1L1):c.6380C>T (p.Pro2127Leu) rs375714703
NM_178857.6(RP1L1):c.6418G>A (p.Glu2140Lys) rs72494282
NM_178857.6(RP1L1):c.6468_6469dup (p.Ala2157fs) rs770652985
NM_178857.6(RP1L1):c.6511G>A (p.Glu2171Lys) rs4354268
NM_178857.6(RP1L1):c.6522A>G (p.Gln2174=) rs780796353
NM_178857.6(RP1L1):c.652G>T (p.Val218Leu) rs77679870
NM_178857.6(RP1L1):c.6545C>A (p.Ala2182Asp) rs183570817
NM_178857.6(RP1L1):c.6596C>T (p.Pro2199Leu) rs75797924
NM_178857.6(RP1L1):c.6597A>G (p.Pro2199=) rs886062575
NM_178857.6(RP1L1):c.6600G>A (p.Glu2200=) rs192990137
NM_178857.6(RP1L1):c.6603A>T (p.Ala2201=) rs886062574
NM_178857.6(RP1L1):c.6611A>C (p.Glu2204Ala) rs200588941
NM_178857.6(RP1L1):c.6644C>T (p.Pro2215Leu) rs187850525
NM_178857.6(RP1L1):c.6658G>T (p.Glu2220Ter) rs1563119360
NM_178857.6(RP1L1):c.665A>C (p.His222Pro) rs4388421
NM_178857.6(RP1L1):c.6674C>T (p.Pro2225Leu) rs74968439
NM_178857.6(RP1L1):c.670G>A (p.Ala224Thr) rs117547822
NM_178857.6(RP1L1):c.6718G>C (p.Glu2240Gln) rs80000074
NM_178857.6(RP1L1):c.6723A>G (p.Ser2241=) rs56382513
NM_178857.6(RP1L1):c.675C>T (p.Phe225=) rs886062585
NM_178857.6(RP1L1):c.6812C>G (p.Pro2271Arg) rs183232880
NM_178857.6(RP1L1):c.6816C>T (p.Val2272=) rs74638396
NM_178857.6(RP1L1):c.6853G>A (p.Gly2285Arg) rs55642448
NM_178857.6(RP1L1):c.6902C>G (p.Ser2301Cys) rs199631825
NM_178857.6(RP1L1):c.6916T>A (p.Trp2306Arg) rs200403049
NM_178857.6(RP1L1):c.6992C>T (p.Thr2331Met) rs147334256
NM_178857.6(RP1L1):c.6993G>A (p.Thr2331=) rs533478971
NM_178857.6(RP1L1):c.7004A>G (p.His2335Arg) rs117007660
NM_178857.6(RP1L1):c.7047T>C (p.Thr2349=) rs202213014
NM_178857.6(RP1L1):c.7062G>C (p.Glu2354Asp) rs766768012
NM_178857.6(RP1L1):c.7117C>T (p.Gln2373Ter) rs759654067
NM_178857.6(RP1L1):c.751+5G>C rs781255037
NM_178857.6(RP1L1):c.776C>A (p.Pro259Gln) rs374097176
NM_178857.6(RP1L1):c.77C>T (p.Ser26Leu) rs185749010
NM_178857.6(RP1L1):c.792G>A (p.Ser264=) rs567914782
NM_178857.6(RP1L1):c.793C>G (p.Arg265Gly) rs367838293
NM_178857.6(RP1L1):c.814C>G (p.Pro272Ala) rs77833234
NM_178857.6(RP1L1):c.844A>C (p.Asn282His) rs75814156
NM_178857.6(RP1L1):c.850C>G (p.Pro284Ala) rs76756822
NM_178857.6(RP1L1):c.899C>T (p.Ser300Leu) rs200642524
NM_178857.6(RP1L1):c.906G>A (p.Pro302=) rs368862886
NM_178857.6(RP1L1):c.940C>T (p.Arg314Cys) rs777582995
NM_178857.6(RP1L1):c.954C>T (p.Asp318=) rs200317816
NM_178857.6(RP1L1):c.960C>T (p.Ser320=) rs756449748
NM_178857.6(RP1L1):c.9C>T (p.Ser3=) rs367930443

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