ClinVar Miner

List of variants in gene RB1 studied for Hereditary cancer-predisposing syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 360
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HGVS dbSNP
NM_000321.2(RB1):c.-198G>A rs387906521
NM_000321.2(RB1):c.1024del (p.Thr342fs) rs587778844
NM_000321.2(RB1):c.1027del (p.Leu343fs) rs1131690873
NM_000321.2(RB1):c.1049+1G>A rs587776782
NM_000321.2(RB1):c.104A>T (p.Gln35Leu) rs1480581747
NM_000321.2(RB1):c.1062_1063GA[1] (p.Arg355fs) rs1131690861
NM_000321.2(RB1):c.106G>A (p.Asp36Asn) rs745822791
NM_000321.2(RB1):c.106del (p.Asp36fs) rs1131690913
NM_000321.2(RB1):c.1072C>T (p.Arg358Ter) rs121913301
NM_000321.2(RB1):c.1072_1074delinsGG (p.Arg358fs) rs1131690872
NM_000321.2(RB1):c.109A>G (p.Ser37Gly) rs896487590
NM_000321.2(RB1):c.111C>T (p.Ser37=) rs1411090163
NM_000321.2(RB1):c.1128-2A>G rs1131690892
NM_000321.2(RB1):c.1129A>T (p.Thr377Ser) rs146897002
NM_000321.2(RB1):c.113G>A (p.Gly38Asp) rs766529534
NM_000321.2(RB1):c.1140C>T (p.Asn380=) rs117865557
NM_000321.2(RB1):c.1147C>T (p.Gln383Ter) rs1131690846
NM_000321.2(RB1):c.114C>T (p.Gly38=) rs1369823342
NM_000321.2(RB1):c.1156A>G (p.Met386Val) rs564780653
NM_000321.2(RB1):c.116C>T (p.Pro39Leu) rs1180053508
NM_000321.2(RB1):c.1174G>A (p.Ala392Thr) rs181988132
NM_000321.2(RB1):c.1180G>A (p.Asp394Asn) rs753350745
NM_000321.2(RB1):c.1198C>G (p.Leu400Val) rs535576919
NM_000321.2(RB1):c.1215+1G>A rs587776783
NM_000321.2(RB1):c.1215C>T (p.Asn405=) rs758187955
NM_000321.2(RB1):c.1224A>G (p.Thr408=) rs371805499
NM_000321.2(RB1):c.1229del (p.Asn410fs) rs1131690897
NM_000321.2(RB1):c.1251_1252del (p.Arg418fs) rs1131690889
NM_000321.2(RB1):c.1268G>A (p.Gly423Glu) rs748635133
NM_000321.2(RB1):c.128C>G (p.Pro43Arg) rs1555279239
NM_000321.2(RB1):c.129T>A (p.Pro43=) rs1304775415
NM_000321.2(RB1):c.1306C>A (p.Gln436Lys) rs4151534
NM_000321.2(RB1):c.1318G>A (p.Glu440Lys) rs1060503078
NM_000321.2(RB1):c.1321dup (p.Ile441fs) rs1131690875
NM_000321.2(RB1):c.1325G>C (p.Gly442Ala) rs1370947947
NM_000321.2(RB1):c.1328C>A (p.Ser443Ter) rs1060503079
NM_000321.2(RB1):c.1333C>T (p.Arg445Ter) rs3092891
NM_000321.2(RB1):c.1345G>A (p.Gly449Arg) rs1131690851
NM_000321.2(RB1):c.1352G>A (p.Arg451His) rs1312442837
NM_000321.2(RB1):c.1363C>T (p.Arg455Ter) rs121913302
NM_000321.2(RB1):c.1364G>C (p.Arg455Pro) rs769425649
NM_000321.2(RB1):c.137+1G>T rs1131690855
NM_000321.2(RB1):c.1372G>T (p.Glu458Ter) rs1131690884
NM_000321.2(RB1):c.1376C>T (p.Ser459Phe) rs1593455667
NM_000321.2(RB1):c.1389+4A>C rs1131690879
NM_000321.2(RB1):c.1389+5G>A rs1131690859
NM_000321.2(RB1):c.1399C>T (p.Arg467Ter) rs398123331
NM_000321.2(RB1):c.1400_1403dup (p.Ser469fs) rs1555286570
NM_000321.2(RB1):c.1410T>C (p.Ile470=) rs578226820
NM_000321.2(RB1):c.1411C>T (p.Gln471Ter) rs1354030520
NM_000321.2(RB1):c.1419del (p.Phe473fs) rs1555286573
NM_000321.2(RB1):c.1421+12_1421+32del rs587781256
NM_000321.2(RB1):c.1421+1G>C rs1131690886
NM_000321.2(RB1):c.1421+1del rs1555286576
NM_000321.2(RB1):c.1421G>T (p.Ser474Ile) rs1555286575
NM_000321.2(RB1):c.1436_1438ACA[1] (p.Asn480del) rs587776788
NM_000321.2(RB1):c.1447del (p.His483fs) rs1131690910
NM_000321.2(RB1):c.144G>A (p.Glu48=) rs1021965284
NM_000321.2(RB1):c.1464G>A (p.Ala488=) rs753520981
NM_000321.2(RB1):c.1466G>A (p.Cys489Tyr) rs1131690877
NM_000321.2(RB1):c.1467C>T (p.Cys489=) rs141608408
NM_000321.2(RB1):c.1468G>A (p.Ala490Thr) rs201458896
NM_000321.2(RB1):c.1474G>A (p.Glu492Lys) rs1060503084
NM_000321.2(RB1):c.1491A>T (p.Thr497=) rs150115447
NM_000321.2(RB1):c.1498+1G>A rs1131690909
NM_000321.2(RB1):c.1502_1514del (p.Ser501fs) rs1131690856
NM_000321.2(RB1):c.155C>T (p.Thr52Ile) rs780588550
NM_000321.2(RB1):c.1574C>A (p.Ala525Asp) rs4151539
NM_000321.2(RB1):c.1574C>G (p.Ala525Gly) rs4151539
NM_000321.2(RB1):c.1575del (p.Phe526fs) rs1131690876
NM_000321.2(RB1):c.1596C>T (p.Ile532=) rs770728170
NM_000321.2(RB1):c.1617A>C (p.Glu539Asp) rs371031574
NM_000321.2(RB1):c.1619G>T (p.Gly540Val) rs769696726
NM_000321.2(RB1):c.1632A>G (p.Arg544=) rs143948310
NM_000321.2(RB1):c.1654C>T (p.Arg552Ter) rs121913303
NM_000321.2(RB1):c.165T>A (p.Pro55=) rs775560197
NM_000321.2(RB1):c.1666C>T (p.Arg556Ter) rs121913304
NM_000321.2(RB1):c.1675G>C (p.Glu559Gln) rs1131690869
NM_000321.2(RB1):c.1695+3A>C rs1131690870
NM_000321.2(RB1):c.1696-4A>G rs143685082
NM_000321.2(RB1):c.1706del (p.Leu569fs) rs1131690842
NM_000321.2(RB1):c.1707A>G (p.Leu569=) rs3092895
NM_000321.2(RB1):c.1735C>T (p.Arg579Ter) rs121913305
NM_000321.2(RB1):c.1736G>A (p.Arg579Gln) rs751560923
NM_000321.2(RB1):c.1763C>T (p.Ser588Phe) rs1555293637
NM_000321.2(RB1):c.1770T>C (p.Cys590=) rs145310579
NM_000321.2(RB1):c.1785T>C (p.Pro595=) rs1194487890
NM_000321.2(RB1):c.1800C>T (p.His600=) rs1555293650
NM_000321.2(RB1):c.180A>G (p.Leu60=) rs878853948
NM_000321.2(RB1):c.1811del (p.Asp604fs) rs1131690893
NM_000321.2(RB1):c.1814+2T>G rs1131690899
NM_000321.2(RB1):c.1814+3A>G rs376886420
NM_000321.2(RB1):c.1814+4A>G rs1131690898
NM_000321.2(RB1):c.1844A>G (p.Lys615Arg) rs1334513810
NM_000321.2(RB1):c.1859C>T (p.Thr620Met) rs554834063
NM_000321.2(RB1):c.1860G>A (p.Thr620=) rs750356534
NM_000321.2(RB1):c.1861C>A (p.Arg621Ser) rs367578442
NM_000321.2(RB1):c.1861C>T (p.Arg621Cys) rs367578442
NM_000321.2(RB1):c.1862G>A (p.Arg621His) rs373601944
NM_000321.2(RB1):c.1887G>C (p.Glu629Asp) rs367668687
NM_000321.2(RB1):c.1898C>T (p.Thr633Ile) rs587778641
NM_000321.2(RB1):c.18C>T (p.Pro6=) rs1017683562
NM_000321.2(RB1):c.1914C>A (p.Thr638=) rs770072166
NM_000321.2(RB1):c.1960+5G>C rs587778871
NM_000321.2(RB1):c.1960G>C (p.Val654Leu) rs483352690
NM_000321.2(RB1):c.1966C>T (p.Arg656Trp) rs142509759
NM_000321.2(RB1):c.1967G>A (p.Arg656Gln) rs202031219
NM_000321.2(RB1):c.1981C>T (p.Arg661Trp) rs137853294
NM_000321.2(RB1):c.1992A>G (p.Thr664=) rs755417160
NM_000321.2(RB1):c.1992A>T (p.Thr664=) rs755417160
NM_000321.2(RB1):c.19_21delinsGG (p.Arg7fs) rs1131690845
NM_000321.2(RB1):c.19dup (p.Arg7fs) rs1131690852
NM_000321.2(RB1):c.2003G>A (p.Arg668His) rs551747882
NM_000321.2(RB1):c.2007_2010TCTG[1] (p.Glu672fs) rs1131690885
NM_000321.2(RB1):c.2014G>T (p.Glu672Ter) rs1131690903
NM_000321.2(RB1):c.2040C>A (p.Ile680=) rs1593534695
NM_000321.2(RB1):c.2049T>C (p.Leu683=) rs1048847950
NM_000321.2(RB1):c.2053C>T (p.Gln685Ter) rs878853949
NM_000321.2(RB1):c.2055del (p.Gln685fs) rs1131690844
NM_000321.2(RB1):c.2076T>C (p.Tyr692=) rs1060504827
NM_000321.2(RB1):c.2078A>G (p.Glu693Gly) rs775195256
NM_000321.2(RB1):c.207T>C (p.His69=) rs759594127
NM_000321.2(RB1):c.2091C>G (p.Asp697Glu) rs3092903
NM_000321.2(RB1):c.2094G>C (p.Arg698Ser) rs1131690891
NM_000321.2(RB1):c.2104C>T (p.Gln702Ter) rs1131690865
NM_000321.2(RB1):c.2105A>G (p.Gln702Arg) rs1131690857
NM_000321.2(RB1):c.2107-1G>A rs587778860
NM_000321.2(RB1):c.2128_2132del (p.Gly710fs) rs1131690896
NM_000321.2(RB1):c.2134T>C (p.Cys712Arg) rs137853296
NM_000321.2(RB1):c.2145G>A (p.Lys715=) rs1555294515
NM_000321.2(RB1):c.2164A>T (p.Lys722Ter) rs587778849
NM_000321.2(RB1):c.2198A>G (p.His733Arg) rs778503152
NM_000321.2(RB1):c.219A>C (p.Arg73Ser) rs1131690854
NM_000321.2(RB1):c.2221C>T (p.Arg741Cys) rs529366765
NM_000321.2(RB1):c.2222G>A (p.Arg741His) rs764520289
NM_000321.2(RB1):c.2238A>G (p.Glu746=) rs991505835
NM_000321.2(RB1):c.2244G>A (p.Glu748=) rs1131690911
NM_000321.2(RB1):c.2274G>A (p.Ser758=) rs558114005
NM_000321.2(RB1):c.2289A>T (p.Arg763Ser) rs1167280920
NM_000321.2(RB1):c.2299_2302del (p.Asn767fs) rs1131690894
NM_000321.2(RB1):c.2325+1G>A rs1131690882
NM_000321.2(RB1):c.2325+1G>C rs1131690882
NM_000321.2(RB1):c.2325+5G>A rs886042249
NM_000321.2(RB1):c.2327C>A (p.Pro776His) rs912203557
NM_000321.2(RB1):c.2356C>T (p.Pro786Ser) rs754507551
NM_000321.2(RB1):c.2359C>T (p.Arg787Ter) rs137853293
NM_000321.2(RB1):c.238A>G (p.Lys80Glu) rs751870680
NM_000321.2(RB1):c.2392C>T (p.Arg798Trp) rs187912365
NM_000321.2(RB1):c.2393G>A (p.Arg798Gln) rs374523971
NM_000321.2(RB1):c.2397T>G (p.Ile799Met) rs749392116
NM_000321.2(RB1):c.2406G>A (p.Gly802=) rs866638680
NM_000321.2(RB1):c.2413_2420del (p.Tyr805fs) rs1131690868
NM_000321.2(RB1):c.2436A>G (p.Pro812=) rs1276641790
NM_000321.2(RB1):c.2439T>A (p.Tyr813Ter) rs774744607
NM_000321.2(RB1):c.2439T>G (p.Tyr813Ter) rs774744607
NM_000321.2(RB1):c.2455C>G (p.Leu819Val) rs375751988
NM_000321.2(RB1):c.2455C>T (p.Leu819=) rs375751988
NM_000321.2(RB1):c.2463A>G (p.Thr821=) rs370088029
NM_000321.2(RB1):c.2464C>G (p.Pro822Ala) rs368413787
NM_000321.2(RB1):c.2465del (p.Pro822fs) rs1131690866
NM_000321.2(RB1):c.2489+1G>A rs764754259
NM_000321.2(RB1):c.2489+1G>C rs764754259
NM_000321.2(RB1):c.2491A>G (p.Ile831Val) rs761068783
NM_000321.2(RB1):c.2501C>A (p.Ser834Ter) rs1131690906
NM_000321.2(RB1):c.2513C>A (p.Ser838Ter) rs1131690908
NM_000321.2(RB1):c.2517C>T (p.Phe839=) rs759188465
NM_000321.2(RB1):c.2519G>A (p.Gly840Glu) rs1131690900
NM_000321.2(RB1):c.2520+1G>T rs587778850
NM_000321.2(RB1):c.2520+3_2520+6del rs1131690858
NM_000321.2(RB1):c.2520+5G>A rs1131690881
NM_000321.2(RB1):c.2533T>C (p.Phe845Leu) rs754183765
NM_000321.2(RB1):c.2558G>A (p.Cys853Tyr) rs1566240940
NM_000321.2(RB1):c.2559T>C (p.Cys853=) rs148327780
NM_000321.2(RB1):c.2570G>A (p.Arg857His) rs144668210
NM_000321.2(RB1):c.2626C>T (p.Arg876Cys) rs143105337
NM_000321.2(RB1):c.2634T>C (p.Asp878=) rs750293921
NM_000321.2(RB1):c.264+1G>A rs1131690907
NM_000321.2(RB1):c.264+5G>C rs1131690853
NM_000321.2(RB1):c.2712G>T (p.Met904Ile) rs1461167778
NM_000321.2(RB1):c.2726C>A (p.Thr909Lys) rs761999108
NM_000321.2(RB1):c.273T>C (p.Tyr91=) rs750136284
NM_000321.2(RB1):c.2754T>C (p.Asp918=) rs878853951
NM_000321.2(RB1):c.277C>T (p.Gln93Ter) rs1131690915
NM_000321.2(RB1):c.281dup (p.Lys95fs) rs1131690862
NM_000321.2(RB1):c.297G>A (p.Trp99Ter) rs794727481
NM_000321.2(RB1):c.301A>G (p.Ile101Val) rs1555282783
NM_000321.2(RB1):c.30C>G (p.Ala10=) rs530961288
NM_000321.2(RB1):c.339G>A (p.Met113Ile) rs1593434250
NM_000321.2(RB1):c.341C>T (p.Ser114Leu) rs139673557
NM_000321.2(RB1):c.342G>A (p.Ser114=) rs748093967
NM_000321.2(RB1):c.34A>T (p.Thr12Ser) rs1566174063
NM_000321.2(RB1):c.34_42del (p.9_11TAA[1]) rs759465865
NM_000321.2(RB1):c.367A>G (p.Asn123Asp) rs149800437
NM_000321.2(RB1):c.370A>G (p.Ile124Val) rs769858139
NM_000321.2(RB1):c.371_372del (p.Ile124fs) rs1566186125
NM_000321.2(RB1):c.380+1G>A rs1131690902
NM_000321.2(RB1):c.380G>A (p.Ser127Asn) rs1131690843
NM_000321.2(RB1):c.380G>C (p.Ser127Thr) rs1131690843
NM_000321.2(RB1):c.411A>T (p.Glu137Asp) rs3092902
NM_000321.2(RB1):c.42C>T (p.Ala14=) rs148980395
NM_000321.2(RB1):c.434del (p.Asp145fs) rs1131690912
NM_000321.2(RB1):c.443del (p.Met148fs) rs1131690867
NM_000321.2(RB1):c.45_53del (p.Ala16_Ala18del) rs572454921
NM_000321.2(RB1):c.462G>A (p.Lys154=) rs369830657
NM_000321.2(RB1):c.496G>T (p.Glu166Ter) rs1131690874
NM_000321.2(RB1):c.500+1G>T rs1131690880
NM_000321.2(RB1):c.501-3C>T rs773662417
NM_000321.2(RB1):c.52G>T (p.Ala18Ser) rs528218090
NM_000321.2(RB1):c.536G>T (p.Ser179Ile) rs1566187849
NM_000321.2(RB1):c.539+1G>A rs1566187856
NM_000321.2(RB1):c.539del (p.Ser179_Ser180insTer) rs1131690871
NM_000321.2(RB1):c.549del (p.Glu184fs) rs1131690887
NM_000321.2(RB1):c.54_76dup (p.Pro26fs) rs1555279210
NM_000321.2(RB1):c.562G>A (p.Ala188Thr) rs1189153218
NM_000321.2(RB1):c.571C>T (p.Leu191=) rs538578527
NM_000321.2(RB1):c.590C>A (p.Thr197Lys) rs1131690883
NM_000321.2(RB1):c.607+1G>T rs587776789
NM_000321.2(RB1):c.607+2dup rs1131690895
NM_000321.2(RB1):c.608-4del rs762805947
NM_000321.2(RB1):c.613G>A (p.Val205Ile) rs770100636
NM_000321.2(RB1):c.628G>T (p.Asp210Tyr) rs148992508
NM_000321.2(RB1):c.644C>A (p.Ser215Ter) rs768305224
NM_000321.2(RB1):c.658C>T (p.Leu220=) rs367960214
NM_000321.2(RB1):c.681del (p.Lys228fs) rs1131690905
NM_000321.2(RB1):c.685C>T (p.Leu229Phe) rs766131342
NM_000321.2(RB1):c.694C>T (p.Pro232Ser) rs1195873978
NM_000321.2(RB1):c.69G>A (p.Pro23=) rs746662122
NM_000321.2(RB1):c.69_71GCC[5] (p.Pro29dup) rs587778823
NM_000321.2(RB1):c.702del (p.Leu234fs) rs1131690878
NM_000321.2(RB1):c.709G>T (p.Glu237Ter) rs1131690904
NM_000321.2(RB1):c.718+5G>T rs1131690848
NM_000321.2(RB1):c.731T>C (p.Ile244Thr) rs147754935
NM_000321.2(RB1):c.731_732delinsATC (p.Ile244fs) rs1131690890
NM_000321.2(RB1):c.735del (p.Ile246fs) rs1131690847
NM_000321.2(RB1):c.751C>T (p.Arg251Ter) rs1131690863
NM_000321.2(RB1):c.761G>A (p.Arg254Lys) rs200674097
NM_000321.2(RB1):c.763C>T (p.Arg255Ter) rs587778842
NM_000321.2(RB1):c.770A>G (p.Gln257Arg) rs1232080974
NM_000321.2(RB1):c.810T>C (p.Asp270=) rs1555284937
NM_000321.2(RB1):c.814A>G (p.Arg272Gly) rs1555284945
NM_000321.2(RB1):c.83C>G (p.Pro28Arg) rs776175164
NM_000321.2(RB1):c.846del (p.Glu282fs) rs1131690849
NM_000321.2(RB1):c.850A>G (p.Asn284Asp) rs761609284
NM_000321.2(RB1):c.857A>G (p.Asp286Gly) rs1131690864
NM_000321.2(RB1):c.862-2A>C rs1131690914
NM_000321.2(RB1):c.867A>C (p.Lys289Asn) rs1555285126
NM_000321.2(RB1):c.869del (p.Asn290fs) rs1131690901
NM_000321.2(RB1):c.88G>C (p.Glu30Gln) rs1555279228
NM_000321.2(RB1):c.89A>C (p.Glu30Ala) rs1482284498
NM_000321.2(RB1):c.905C>A (p.Ser302Tyr) rs1208736713
NM_000321.2(RB1):c.940-1G>A rs1131690860
NM_000321.2(RB1):c.958C>T (p.Arg320Ter) rs121913300
NM_000321.2(RB1):c.959G>A (p.Arg320Gln) rs760787104
NM_000321.2(RB1):c.962A>G (p.Tyr321Cys) rs1566194338
NM_000321.2(RB1):c.963C>T (p.Tyr321=) rs377235036
NM_000321.2(RB1):c.964G>T (p.Glu322Ter) rs776534331
NM_000321.2(RB1):c.976C>T (p.Leu326Phe) rs1566194351
NM_000321.2(RB1):c.9_42dup (p.Ala15fs) rs1555279195
NM_000321.3(RB1):c.-1C>T rs754354560
NM_000321.3(RB1):c.-2T>G rs1466986201
NM_000321.3(RB1):c.1058_1059CA[1] (p.Gln354fs) rs587778829
NM_000321.3(RB1):c.1078A>T (p.Ser360Cys) rs1593449010
NM_000321.3(RB1):c.1086T>G (p.Leu362=) rs1212481028
NM_000321.3(RB1):c.118del (p.Glu40fs) rs1593412261
NM_000321.3(RB1):c.1240A>C (p.Ser414Arg) rs974956317
NM_000321.3(RB1):c.1338C>A (p.Tyr446Ter) rs1593455621
NM_000321.3(RB1):c.138-1G>A rs1593414337
NM_000321.3(RB1):c.1389A>G (p.Ser463=) rs1486168292
NM_000321.3(RB1):c.1422-4T>G rs201554179
NM_000321.3(RB1):c.1424A>C (p.Lys475Thr) rs1593456261
NM_000321.3(RB1):c.1498A>C (p.Arg500=) rs1593456364
NM_000321.3(RB1):c.150A>T (p.Glu50Asp) rs1330924197
NM_000321.3(RB1):c.1523C>T (p.Ser508Phe) rs1204086259
NM_000321.3(RB1):c.1531G>C (p.Asp511His) rs145729675
NM_000321.3(RB1):c.153A>C (p.Glu51Asp) rs756860689
NM_000321.3(RB1):c.1596C>A (p.Ile532=) rs770728170
NM_000321.3(RB1):c.1597G>C (p.Glu533Gln) rs1237070816
NM_000321.3(RB1):c.15C>A (p.Thr5=) rs1593411934
NM_000321.3(RB1):c.1645C>G (p.His549Asp) rs1050717570
NM_000321.3(RB1):c.1651G>A (p.Glu551Lys) rs147534828
NM_000321.3(RB1):c.1692C>T (p.Leu564=) rs1593457168
NM_000321.3(RB1):c.1720A>G (p.Lys574Glu) rs1593529910
NM_000321.3(RB1):c.1722A>C (p.Lys574Asn) rs1171421079
NM_000321.3(RB1):c.172A>G (p.Thr58Ala) rs1593414365
NM_000321.3(RB1):c.1741G>A (p.Gly581Arg) rs375645171
NM_000321.3(RB1):c.1749T>G (p.Thr583=) rs913654931
NM_000321.3(RB1):c.1755C>T (p.His585=) rs750305249
NM_000321.3(RB1):c.175_177delinsCCT (p.Ala59Pro) rs1593414375
NM_000321.3(RB1):c.1827T>C (p.Pro609=) rs1593531889
NM_000321.3(RB1):c.1829T>C (p.Val610Ala) rs934931283
NM_000321.3(RB1):c.1892A>G (p.Gln631Arg) rs1593532019
NM_000321.3(RB1):c.1893A>G (p.Gln631=) rs746361171
NM_000321.3(RB1):c.1982G>A (p.Arg661Gln) rs750578651
NM_000321.3(RB1):c.2002C>A (p.Arg668Ser) rs369755801
NM_000321.3(RB1):c.2038A>G (p.Ile680Val) rs1422900655
NM_000321.3(RB1):c.2097T>A (p.His699Gln) rs1593534809
NM_000321.3(RB1):c.211_212AG[4] (p.Arg73fs) rs587778862
NM_000321.3(RB1):c.2127T>C (p.Tyr709=) rs1484231598
NM_000321.3(RB1):c.2138A>G (p.Lys713Arg) rs1593538161
NM_000321.3(RB1):c.2198A>T (p.His733Leu) rs778503152
NM_000321.3(RB1):c.2207A>C (p.Gln736Pro) rs1372842030
NM_000321.3(RB1):c.2324G>A (p.Arg775Lys) rs1593539271
NM_000321.3(RB1):c.2326-4C>G rs1356053052
NM_000321.3(RB1):c.2333C>T (p.Thr778Ile) rs1593539364
NM_000321.3(RB1):c.233G>C (p.Trp78Ser) rs1593414417
NM_000321.3(RB1):c.2349T>A (p.Pro783=) rs753349760
NM_000321.3(RB1):c.2360G>A (p.Arg787Gln) rs748094394
NM_000321.3(RB1):c.2363_2384dup (p.Arg798_Ile799insGlnValSerTerProLeu) rs1593539386
NM_000321.3(RB1):c.2366C>T (p.Pro789Leu) rs1467492987
NM_000321.3(RB1):c.2370C>T (p.Tyr790=) rs794727372
NM_000321.3(RB1):c.2431A>G (p.Ser811Gly) rs1371240619
NM_000321.3(RB1):c.2432G>A (p.Ser811Asn) rs1220980701
NM_000321.3(RB1):c.2441A>C (p.Lys814Thr) rs1566237785
NM_000321.3(RB1):c.2490-5G>A rs1593544633
NM_000321.3(RB1):c.2518G>A (p.Gly840Arg) rs374157786
NM_000321.3(RB1):c.2557T>G (p.Cys853Gly) rs1295589257
NM_000321.3(RB1):c.2566G>A (p.Asp856Asn) rs149359120
NM_000321.3(RB1):c.2568C>A (p.Asp856Glu) rs1566240957
NM_000321.3(RB1):c.2570G>T (p.Arg857Leu) rs144668210
NM_000321.3(RB1):c.2586T>C (p.Ser862=) rs1593547157
NM_000321.3(RB1):c.2597G>A (p.Ser866Asn) rs1593547165
NM_000321.3(RB1):c.2607T>G (p.Pro869=) rs762588468
NM_000321.3(RB1):c.2615T>C (p.Leu872Pro) rs1470516350
NM_000321.3(RB1):c.2628C>T (p.Arg876=) rs1593547215
NM_000321.3(RB1):c.266G>A (p.Gly89Glu) rs371655281
NM_000321.3(RB1):c.2679A>G (p.Gly893=) rs751718011
NM_000321.3(RB1):c.270T>C (p.Gly90=) rs1593434172
NM_000321.3(RB1):c.2730A>G (p.Arg910=) rs1245341503
NM_000321.3(RB1):c.2759T>C (p.Met920Thr) rs148501460
NM_000321.3(RB1):c.2775G>A (p.Lys925=) rs936709957
NM_000321.3(RB1):c.2777A>G (p.Glu926Gly) rs1593549718
NM_000321.3(RB1):c.308T>C (p.Ile103Thr) rs1593434231
NM_000321.3(RB1):c.309C>A (p.Ile103=) rs1593434233
NM_000321.3(RB1):c.316G>T (p.Ala106Ser) rs1210328667
NM_000321.3(RB1):c.337A>C (p.Met113Leu) rs1593434246
NM_000321.3(RB1):c.354T>A (p.Thr118=) rs951251256
NM_000321.3(RB1):c.36C>T (p.Thr12=) rs779180897
NM_000321.3(RB1):c.372A>G (p.Ile124Met) rs1593434342
NM_000321.3(RB1):c.395T>A (p.Phe132Tyr) rs762380973
NM_000321.3(RB1):c.404T>C (p.Leu135Pro) rs1593435713
NM_000321.3(RB1):c.485T>A (p.Phe162Tyr) rs764881599
NM_000321.3(RB1):c.50C>T (p.Ala17Val) rs1593412070
NM_000321.3(RB1):c.51C>G (p.Ala17=) rs1593412073
NM_000321.3(RB1):c.540-3T>C rs149703672
NM_000321.3(RB1):c.560C>T (p.Ser187Phe) rs770277291
NM_000321.3(RB1):c.563C>T (p.Ala188Val) rs1593437973
NM_000321.3(RB1):c.59C>T (p.Pro20Leu) rs587778637
NM_000321.3(RB1):c.607+1G>A rs587776789
NM_000321.3(RB1):c.643T>C (p.Ser215Pro) rs748923368
NM_000321.3(RB1):c.69_71GCC[3] (p.Pro29del) rs587778823
NM_000321.3(RB1):c.69_71GCC[6] (p.Pro28_Pro29dup) rs587778823
NM_000321.3(RB1):c.722C>T (p.Thr241Ile) rs1593445085
NM_000321.3(RB1):c.744T>C (p.Gly248=) rs1297277579
NM_000321.3(RB1):c.74C>T (p.Pro25Leu) rs1593412158
NM_000321.3(RB1):c.764G>A (p.Arg255Gln) rs746954896
NM_000321.3(RB1):c.905C>T (p.Ser302Phe) rs1208736713
NM_000321.3(RB1):c.908T>G (p.Leu303Arg) rs900955797
NM_000321.3(RB1):c.920C>T (p.Thr307Ile) rs183898408
NM_000321.3(RB1):c.929G>A (p.Gly310Glu) rs200844292
NM_000321.3(RB1):c.999A>C (p.Ala333=) rs1254874409

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