ClinVar Miner

List of variants in gene RB1 reported as uncertain significance by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 881
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HGVS dbSNP gnomAD frequency
NM_000321.3(RB1):c.1390-11A>G rs200658795 0.00365
NM_000321.3(RB1):c.2758A>G (p.Met920Val) rs1319312586 0.00006
NM_000321.3(RB1):c.2221C>T (p.Arg741Cys) rs529366765 0.00004
NM_000321.3(RB1):c.2759T>C (p.Met920Thr) rs148501460 0.00004
NC_000013.11:g.48303711G>A rs1408378438 0.00003
NM_000321.3(RB1):c.1095G>C (p.Glu365Asp) rs750094760 0.00003
NM_000321.3(RB1):c.109A>G (p.Ser37Gly) rs896487590 0.00003
NM_000321.3(RB1):c.1245A>G (p.Ile415Met) rs1454134039 0.00003
NM_000321.3(RB1):c.1745C>G (p.Pro582Arg) rs757198343 0.00003
NM_000321.3(RB1):c.1922C>A (p.Pro641Gln) rs1249069450 0.00003
NM_000321.3(RB1):c.2344A>G (p.Ile782Val) rs1283644725 0.00003
NM_000321.3(RB1):c.1364G>A (p.Arg455Gln) rs769425649 0.00002
NM_000321.3(RB1):c.2222G>A (p.Arg741His) rs764520289 0.00002
NM_000321.3(RB1):c.2489+3G>T rs1057505320 0.00002
NM_000321.3(RB1):c.2533T>C (p.Phe845Leu) rs754183765 0.00002
NM_000321.3(RB1):c.2778A>C (p.Glu926Asp) rs1433767914 0.00002
NM_000321.3(RB1):c.316G>T (p.Ala106Ser) rs1210328667 0.00002
NM_000321.3(RB1):c.389A>C (p.Lys130Thr) rs1593435682 0.00002
NM_000321.3(RB1):c.466G>T (p.Asp156Tyr) rs1034616967 0.00002
NM_000321.3(RB1):c.74C>T (p.Pro25Leu) rs1593412158 0.00002
NM_000321.3(RB1):c.897T>A (p.Phe299Leu) rs772362181 0.00002
NM_000321.3(RB1):c.1017T>A (p.His339Gln) rs1161993720 0.00001
NM_000321.3(RB1):c.1024A>T (p.Thr342Ser) rs751263356 0.00001
NM_000321.3(RB1):c.1034C>G (p.Thr345Ser) rs1952716833 0.00001
NM_000321.3(RB1):c.104A>T (p.Gln35Leu) rs1480581747 0.00001
NM_000321.3(RB1):c.1093G>C (p.Glu365Gln) rs1270702085 0.00001
NM_000321.3(RB1):c.1139A>G (p.Asn380Ser) rs1470523018 0.00001
NM_000321.3(RB1):c.1144A>G (p.Ile382Val) rs1286489738 0.00001
NM_000321.3(RB1):c.1159A>T (p.Met387Leu) rs190689977 0.00001
NM_000321.3(RB1):c.1174G>A (p.Ala392Thr) rs181988132 0.00001
NM_000321.3(RB1):c.1189T>G (p.Ser397Ala) rs1952784627 0.00001
NM_000321.3(RB1):c.1206C>T (p.Ser402=) rs752679968 0.00001
NM_000321.3(RB1):c.1223C>T (p.Thr408Ile) rs1462238834 0.00001
NM_000321.3(RB1):c.1230T>A (p.Asn410Lys) rs1952831033 0.00001
NM_000321.3(RB1):c.1325G>C (p.Gly442Ala) rs1370947947 0.00001
NM_000321.3(RB1):c.1334G>A (p.Arg445Gln) rs747509282 0.00001
NM_000321.3(RB1):c.1351C>T (p.Arg451Cys) rs759079385 0.00001
NM_000321.3(RB1):c.1352G>A (p.Arg451His) rs1312442837 0.00001
NM_000321.3(RB1):c.1370T>C (p.Met457Thr) rs2542202947 0.00001
NM_000321.3(RB1):c.1378A>G (p.Met460Val) rs1258210045 0.00001
NM_000321.3(RB1):c.13A>G (p.Thr5Ala) rs898303682 0.00001
NM_000321.3(RB1):c.13A>T (p.Thr5Ser) rs898303682 0.00001
NM_000321.3(RB1):c.1406C>T (p.Ser469Phe) rs1243796201 0.00001
NM_000321.3(RB1):c.1412A>G (p.Gln471Arg) rs1948520103 0.00001
NM_000321.3(RB1):c.1421+5A>G rs1308009862 0.00001
NM_000321.3(RB1):c.1451T>C (p.Met484Thr) rs1948522862 0.00001
NM_000321.3(RB1):c.1486G>T (p.Ala496Ser) rs1366675428 0.00001
NM_000321.3(RB1):c.14C>T (p.Thr5Ile) rs1265159988 0.00001
NM_000321.3(RB1):c.1505C>T (p.Thr502Ile) rs752334972 0.00001
NM_000321.3(RB1):c.150A>T (p.Glu50Asp) rs1330924197 0.00001
NM_000321.3(RB1):c.1514A>C (p.Asn505Thr) rs1948533141 0.00001
NM_000321.3(RB1):c.1617A>C (p.Glu539Asp) rs371031574 0.00001
NM_000321.3(RB1):c.161A>G (p.Glu54Gly) rs1952089249 0.00001
NM_000321.3(RB1):c.1655G>A (p.Arg552Gln) rs146236493 0.00001
NM_000321.3(RB1):c.1718T>C (p.Ile573Thr) rs1478823304 0.00001
NM_000321.3(RB1):c.1741G>A (p.Gly581Arg) rs375645171 0.00001
NM_000321.3(RB1):c.1750G>T (p.Asp584Tyr) rs1343212063 0.00001
NM_000321.3(RB1):c.1766C>G (p.Ala589Gly) rs779045727 0.00001
NM_000321.3(RB1):c.1778A>G (p.Asn593Ser) rs138033832 0.00001
NM_000321.3(RB1):c.1789C>A (p.Gln597Lys) rs1566233076 0.00001
NM_000321.3(RB1):c.1802C>T (p.Thr601Ile) rs910909092 0.00001
NM_000321.3(RB1):c.1829T>C (p.Val610Ala) rs934931283 0.00001
NM_000321.3(RB1):c.1832G>A (p.Arg611Lys) rs1359386263 0.00001
NM_000321.3(RB1):c.1840A>G (p.Lys614Glu) rs751060248 0.00001
NM_000321.3(RB1):c.1844A>G (p.Lys615Arg) rs1334513810 0.00001
NM_000321.3(RB1):c.1892A>G (p.Gln631Arg) rs1593532019 0.00001
NM_000321.3(RB1):c.1961-4A>G rs1949383242 0.00001
NM_000321.3(RB1):c.1963T>G (p.Tyr655Asp) rs2138335795 0.00001
NM_000321.3(RB1):c.1982G>A (p.Arg661Gln) rs750578651 0.00001
NM_000321.3(RB1):c.1988A>G (p.Asn663Ser) rs1007286459 0.00001
NM_000321.3(RB1):c.1997G>T (p.Cys666Phe) rs1160394123 0.00001
NM_000321.3(RB1):c.2029G>A (p.Glu677Lys) rs1060503067 0.00001
NM_000321.3(RB1):c.2035A>G (p.Ile679Val) rs897199998 0.00001
NM_000321.3(RB1):c.2038A>G (p.Ile680Val) rs1422900655 0.00001
NM_000321.3(RB1):c.205C>G (p.His69Asp) rs766579526 0.00001
NM_000321.3(RB1):c.2066A>G (p.Gln689Arg) rs1447082021 0.00001
NM_000321.3(RB1):c.20G>A (p.Arg7Gln) rs564059250 0.00001
NM_000321.3(RB1):c.2106+3A>G rs1353683992 0.00001
NM_000321.3(RB1):c.213A>T (p.Arg71Ser) rs1326990660 0.00001
NM_000321.3(RB1):c.2186A>C (p.Lys729Thr) rs150600740 0.00001
NM_000321.3(RB1):c.2198A>T (p.His733Leu) rs778503152 0.00001
NM_000321.3(RB1):c.2242G>A (p.Glu748Lys) rs121913297 0.00001
NM_000321.3(RB1):c.2246A>G (p.Tyr749Cys) rs1949430638 0.00001
NM_000321.3(RB1):c.2290C>G (p.Leu764Val) rs138637932 0.00001
NM_000321.3(RB1):c.2332A>G (p.Thr778Ala) rs878853950 0.00001
NM_000321.3(RB1):c.2333C>T (p.Thr778Ile) rs1593539364 0.00001
NM_000321.3(RB1):c.2381G>C (p.Ser794Thr) rs1240896329 0.00001
NM_000321.3(RB1):c.238A>G (p.Lys80Glu) rs751870680 0.00001
NM_000321.3(RB1):c.2557T>C (p.Cys853Arg) rs1295589257 0.00001
NM_000321.3(RB1):c.2568C>A (p.Asp856Glu) rs1566240957 0.00001
NM_000321.3(RB1):c.2569C>T (p.Arg857Cys) rs1032510984 0.00001
NM_000321.3(RB1):c.2605C>T (p.Pro869Ser) rs1415559108 0.00001
NM_000321.3(RB1):c.2615T>C (p.Leu872Pro) rs1470516350 0.00001
NM_000321.3(RB1):c.2636T>C (p.Ile879Thr) rs764140783 0.00001
NM_000321.3(RB1):c.2639A>C (p.Glu880Ala) rs1259535894 0.00001
NM_000321.3(RB1):c.2653G>A (p.Ala885Thr) rs752897010 0.00001
NM_000321.3(RB1):c.2656G>A (p.Asp886Asn) rs1460190600 0.00001
NM_000321.3(RB1):c.266G>A (p.Gly89Glu) rs371655281 0.00001
NM_000321.3(RB1):c.2672T>C (p.Leu891Pro) rs1949510396 0.00001
NM_000321.3(RB1):c.2764A>G (p.Thr922Ala) rs1949528678 0.00001
NM_000321.3(RB1):c.2777A>G (p.Glu926Gly) rs1593549718 0.00001
NM_000321.3(RB1):c.32C>T (p.Ala11Val) rs899323337 0.00001
NM_000321.3(RB1):c.34A>T (p.Thr12Ser) rs1566174063 0.00001
NM_000321.3(RB1):c.352A>T (p.Thr118Ser) rs1429553692 0.00001
NM_000321.3(RB1):c.356A>C (p.Glu119Ala) rs1347755761 0.00001
NM_000321.3(RB1):c.370A>G (p.Ile124Val) rs769858139 0.00001
NM_000321.3(RB1):c.371T>C (p.Ile124Thr) rs1271889879 0.00001
NM_000321.3(RB1):c.395T>A (p.Phe132Tyr) rs762380973 0.00001
NM_000321.3(RB1):c.421A>G (p.Ser141Gly) rs1322130234 0.00001
NM_000321.3(RB1):c.424A>G (p.Thr142Ala) rs1307149332 0.00001
NM_000321.3(RB1):c.464A>G (p.Tyr155Cys) rs766849295 0.00001
NM_000321.3(RB1):c.506G>A (p.Cys169Tyr) rs1251503080 0.00001
NM_000321.3(RB1):c.529C>T (p.Pro177Ser) rs1357310270 0.00001
NM_000321.3(RB1):c.536G>T (p.Ser179Ile) rs1566187849 0.00001
NM_000321.3(RB1):c.547A>G (p.Thr183Ala) rs1593437952 0.00001
NM_000321.3(RB1):c.630T>A (p.Asp210Glu) rs1952625286 0.00001
NM_000321.3(RB1):c.634C>A (p.Leu212Met) rs147085238 0.00001
NM_000321.3(RB1):c.644C>T (p.Ser215Leu) rs768305224 0.00001
NM_000321.3(RB1):c.683A>G (p.Lys228Arg) rs760584178 0.00001
NM_000321.3(RB1):c.694C>T (p.Pro232Ser) rs1195873978 0.00001
NM_000321.3(RB1):c.71C>T (p.Pro24Leu) rs1285455572 0.00001
NM_000321.3(RB1):c.752G>A (p.Arg251Gln) rs772678500 0.00001
NM_000321.3(RB1):c.763C>G (p.Arg255Gly) rs587778842 0.00001
NM_000321.3(RB1):c.785G>A (p.Arg262Gln) rs752342013 0.00001
NM_000321.3(RB1):c.891A>G (p.Ile297Met) rs1952680086 0.00001
NM_000321.3(RB1):c.893C>T (p.Pro298Leu) rs759675910 0.00001
NM_000321.3(RB1):c.89A>C (p.Glu30Ala) rs1482284498 0.00001
NM_000321.3(RB1):c.905C>T (p.Ser302Phe) rs1208736713 0.00001
NM_000321.3(RB1):c.916G>A (p.Val306Ile) rs773169052 0.00001
NM_000321.3(RB1):c.939+5T>G rs1952680873 0.00001
NM_000321.3(RB1):c.982A>C (p.Asn328His) rs1952716240 0.00001
NM_000321.3(RB1):c.-2T>A rs1466986201
NM_000321.3(RB1):c.-2T>C rs1466986201
NM_000321.3(RB1):c.-2T>G rs1466986201
NM_000321.3(RB1):c.1001G>A (p.Arg334Lys) rs2138121312
NM_000321.3(RB1):c.1006T>C (p.Phe336Leu) rs2542188582
NM_000321.3(RB1):c.1007T>G (p.Phe336Cys) rs2138121341
NM_000321.3(RB1):c.1011G>A (p.Leu337=) rs2138121355
NM_000321.3(RB1):c.1012G>A (p.Asp338Asn) rs2138121365
NM_000321.3(RB1):c.1015C>T (p.His339Tyr)
NM_000321.3(RB1):c.1016A>G (p.His339Arg) rs1566194383
NM_000321.3(RB1):c.1020T>G (p.Asp340Glu)
NM_000321.3(RB1):c.1022A>G (p.Lys341Arg) rs1393042716
NM_000321.3(RB1):c.1025C>T (p.Thr342Ile) rs2542188649
NM_000321.3(RB1):c.1030C>A (p.Gln344Lys) rs2138121441
NM_000321.3(RB1):c.1033A>T (p.Thr345Ser) rs2542188668
NM_000321.3(RB1):c.1037A>C (p.Asp346Ala) rs1566194403
NM_000321.3(RB1):c.1037A>G (p.Asp346Gly) rs1566194403
NM_000321.3(RB1):c.1040C>A (p.Ser347Tyr) rs2138121506
NM_000321.3(RB1):c.1049+5T>C rs1593448511
NM_000321.3(RB1):c.1049+5T>G rs1593448511
NM_000321.3(RB1):c.1049G>A (p.Ser350Asn) rs1368390928
NM_000321.3(RB1):c.1050-5T>C rs2542189673
NM_000321.3(RB1):c.1051T>G (p.Phe351Val) rs2542189712
NM_000321.3(RB1):c.1055A>G (p.Glu352Gly) rs2138123125
NM_000321.3(RB1):c.1061A>C (p.Gln354Pro) rs2138123152
NM_000321.3(RB1):c.1065A>T (p.Arg355Ser) rs2542189773
NM_000321.3(RB1):c.1066A>C (p.Thr356Pro) rs2138123180
NM_000321.3(RB1):c.1067CAC[1] (p.Pro357del) rs1952726639
NM_000321.3(RB1):c.1069C>A (p.Pro357Thr) rs568421803
NM_000321.3(RB1):c.1073G>T (p.Arg358Leu) rs767011440
NM_000321.3(RB1):c.1078A>G (p.Ser360Gly) rs1593449010
NM_000321.3(RB1):c.1078A>T (p.Ser360Cys) rs1593449010
NM_000321.3(RB1):c.1081A>G (p.Asn361Asp)
NM_000321.3(RB1):c.1082A>C (p.Asn361Thr) rs2138123269
NM_000321.3(RB1):c.1085T>G (p.Leu362Arg)
NM_000321.3(RB1):c.109A>C (p.Ser37Arg) rs896487590
NM_000321.3(RB1):c.1115A>G (p.His372Arg) rs1015497370
NM_000321.3(RB1):c.1115A>T (p.His372Leu) rs1015497370
NM_000321.3(RB1):c.111C>A (p.Ser37Arg) rs1411090163
NM_000321.3(RB1):c.1123G>C (p.Val375Leu) rs1952727557
NM_000321.3(RB1):c.1127+2T>C rs2138123541
NM_000321.3(RB1):c.1127G>A (p.Arg376Lys) rs1952727608
NM_000321.3(RB1):c.112G>A (p.Gly38Ser) rs2138027890
NM_000321.3(RB1):c.112G>C (p.Gly38Arg)
NM_000321.3(RB1):c.1135A>G (p.Met379Val) rs2138130913
NM_000321.3(RB1):c.1138A>G (p.Asn380Asp) rs2542194828
NM_000321.3(RB1):c.1142C>T (p.Thr381Ile) rs2138130952
NM_000321.3(RB1):c.1157T>C (p.Met386Thr)
NM_000321.3(RB1):c.1158G>T (p.Met386Ile) rs2138131069
NM_000321.3(RB1):c.1159A>G (p.Met387Val) rs190689977
NM_000321.3(RB1):c.115C>T (p.Pro39Ser) rs2138027915
NM_000321.3(RB1):c.1160T>C (p.Met387Thr) rs767908749
NM_000321.3(RB1):c.1162A>G (p.Ile388Val) rs2542194936
NM_000321.3(RB1):c.1162A>T (p.Ile388Phe) rs2542194936
NM_000321.3(RB1):c.1163T>C (p.Ile388Thr) rs373623059
NM_000321.3(RB1):c.1163_1168dup (p.Ile388_Leu389dup) rs1375214454
NM_000321.3(RB1):c.1167A>C (p.Leu389Phe) rs1952784310
NM_000321.3(RB1):c.1168A>C (p.Asn390His) rs2138131132
NM_000321.3(RB1):c.1177A>G (p.Ser393Gly) rs1239088692
NM_000321.3(RB1):c.1181A>G (p.Asp394Gly) rs2542195015
NM_000321.3(RB1):c.1181A>T (p.Asp394Val) rs2542195015
NM_000321.3(RB1):c.1186C>T (p.Pro396Ser) rs2138131224
NM_000321.3(RB1):c.118G>A (p.Glu40Lys) rs1593412262
NM_000321.3(RB1):c.1195A>G (p.Asn399Asp) rs2138131269
NM_000321.3(RB1):c.1205C>T (p.Ser402Phe) rs2138131310
NM_000321.3(RB1):c.1207T>C (p.Tyr403His) rs2138131325
NM_000321.3(RB1):c.1208A>G (p.Tyr403Cys) rs2542195117
NM_000321.3(RB1):c.120G>T (p.Glu40Asp) rs2138027962
NM_000321.3(RB1):c.1216-28_1216-3del rs2542198622
NM_000321.3(RB1):c.121G>A (p.Asp41Asn) rs775161380
NM_000321.3(RB1):c.121G>C (p.Asp41His) rs775161380
NM_000321.3(RB1):c.121G>T (p.Asp41Tyr) rs775161380
NM_000321.3(RB1):c.1220G>A (p.Cys407Tyr) rs2138136183
NM_000321.3(RB1):c.1223C>G (p.Thr408Arg) rs1462238834
NM_000321.3(RB1):c.1225G>A (p.Val409Met) rs1952830946
NM_000321.3(RB1):c.1225G>T (p.Val409Leu)
NM_000321.3(RB1):c.1229A>C (p.Asn410Thr) rs1952831003
NM_000321.3(RB1):c.1234A>G (p.Lys412Glu) rs2138136254
NM_000321.3(RB1):c.1238A>G (p.Glu413Gly) rs1462517568
NM_000321.3(RB1):c.1246C>A (p.Leu416Met) rs1438600147
NM_000321.3(RB1):c.1247T>C (p.Leu416Pro) rs1299630954
NM_000321.3(RB1):c.124C>A (p.Leu42Met) rs1312883856
NM_000321.3(RB1):c.1250A>G (p.Lys417Arg) rs2542198893
NM_000321.3(RB1):c.1253G>A (p.Arg418Lys) rs1952831579
NM_000321.3(RB1):c.1258A>G (p.Lys420Glu) rs2138136384
NM_000321.3(RB1):c.125T>A (p.Leu42Gln) rs1593412272
NM_000321.3(RB1):c.1265T>C (p.Ile422Thr) rs2138136414
NM_000321.3(RB1):c.1274T>A (p.Ile425Asn) rs1464633359
NM_000321.3(RB1):c.1274T>C (p.Ile425Thr) rs1464633359
NM_000321.3(RB1):c.1275C>G (p.Ile425Met) rs2138136468
NM_000321.3(RB1):c.1279A>C (p.Lys427Gln)
NM_000321.3(RB1):c.1280A>G (p.Lys427Arg) rs778296403
NM_000321.3(RB1):c.1282G>C (p.Glu428Gln) rs2138136517
NM_000321.3(RB1):c.1284G>T (p.Glu428Asp) rs2138136532
NM_000321.3(RB1):c.128C>G (p.Pro43Arg) rs1555279239
NM_000321.3(RB1):c.128C>T (p.Pro43Leu) rs1555279239
NM_000321.3(RB1):c.1291G>A (p.Ala431Thr) rs965729205
NM_000321.3(RB1):c.1294A>G (p.Lys432Glu) rs1566197747
NM_000321.3(RB1):c.1297G>A (p.Ala433Thr) rs1166566395
NM_000321.3(RB1):c.1309G>T (p.Gly437Cys) rs1262874800
NM_000321.3(RB1):c.130C>A (p.Leu44Ile) rs1345893304
NM_000321.3(RB1):c.130C>G (p.Leu44Val) rs1345893304
NM_000321.3(RB1):c.1310G>A (p.Gly437Asp) rs1952832211
NM_000321.3(RB1):c.1310G>C (p.Gly437Ala) rs1952832211
NM_000321.3(RB1):c.1313G>A (p.Cys438Tyr) rs1952832267
NM_000321.3(RB1):c.1313G>T (p.Cys438Phe) rs1952832267
NM_000321.3(RB1):c.1336T>A (p.Tyr446Asn) rs1948513840
NM_000321.3(RB1):c.1337A>G (p.Tyr446Cys) rs2138140787
NM_000321.3(RB1):c.133G>C (p.Val45Leu) rs2138028058
NM_000321.3(RB1):c.1343T>A (p.Leu448His) rs2138140821
NM_000321.3(RB1):c.1355T>G (p.Leu452Trp) rs2138140900
NM_000321.3(RB1):c.1356G>T (p.Leu452Phe) rs201285819
NM_000321.3(RB1):c.1364G>C (p.Arg455Pro) rs769425649
NM_000321.3(RB1):c.1364G>T (p.Arg455Leu) rs769425649
NM_000321.3(RB1):c.137+5G>C
NM_000321.3(RB1):c.1371G>A (p.Met457Ile) rs1948514269
NM_000321.3(RB1):c.1373A>C (p.Glu458Ala) rs1948514334
NM_000321.3(RB1):c.1374A>C (p.Glu458Asp) rs774865033
NM_000321.3(RB1):c.1376C>A (p.Ser459Tyr) rs1593455667
NM_000321.3(RB1):c.1376C>T (p.Ser459Phe) rs1593455667
NM_000321.3(RB1):c.1381C>T (p.Leu461Phe)
NM_000321.3(RB1):c.1390_1392GAA[2] (p.Glu466del) rs1948519753
NM_000321.3(RB1):c.1399C>G (p.Arg467Gly) rs398123331
NM_000321.3(RB1):c.139C>A (p.Leu47Ile) rs1952088853
NM_000321.3(RB1):c.139C>T (p.Leu47Phe) rs1952088853
NM_000321.3(RB1):c.1400G>T (p.Arg467Leu) rs1948519905
NM_000321.3(RB1):c.1404A>T (p.Leu468Phe) rs2138142265
NM_000321.3(RB1):c.1405T>G (p.Ser469Ala)
NM_000321.3(RB1):c.1406C>A (p.Ser469Tyr) rs1243796201
NM_000321.3(RB1):c.1409T>G (p.Ile470Ser) rs2138142298
NM_000321.3(RB1):c.140T>C (p.Leu47Pro) rs2138033812
NM_000321.3(RB1):c.140T>G (p.Leu47Arg) rs2138033812
NM_000321.3(RB1):c.1410T>G (p.Ile470Met) rs578226820
NM_000321.3(RB1):c.1412A>T (p.Gln471Leu) rs1948520103
NM_000321.3(RB1):c.1420A>T (p.Ser474Cys) rs2138142343
NM_000321.3(RB1):c.1424A>C (p.Lys475Thr) rs1593456261
NM_000321.3(RB1):c.1433A>G (p.Asn478Ser) rs2138142778
NM_000321.3(RB1):c.1434T>G (p.Asn478Lys)
NM_000321.3(RB1):c.1435G>C (p.Asp479His)
NM_000321.3(RB1):c.1436A>G (p.Asp479Gly) rs2138142793
NM_000321.3(RB1):c.143A>G (p.Glu48Gly) rs2138033826
NM_000321.3(RB1):c.1441A>G (p.Ile481Val)
NM_000321.3(RB1):c.1452G>A (p.Met484Ile) rs2138142907
NM_000321.3(RB1):c.1453T>A (p.Ser485Thr) rs1948522903
NM_000321.3(RB1):c.1453T>C (p.Ser485Pro) rs1948522903
NM_000321.3(RB1):c.1462G>A (p.Ala488Thr) rs2138142977
NM_000321.3(RB1):c.1465T>G (p.Cys489Gly) rs1948523129
NM_000321.3(RB1):c.1468G>T (p.Ala490Ser) rs201458896
NM_000321.3(RB1):c.146T>C (p.Phe49Ser)
NM_000321.3(RB1):c.1471C>T (p.Leu491Phe) rs2138143042
NM_000321.3(RB1):c.1472T>A (p.Leu491His) rs587778848
NM_000321.3(RB1):c.1474G>A (p.Glu492Lys) rs1060503084
NM_000321.3(RB1):c.1483A>T (p.Met495Leu) rs746901651
NM_000321.3(RB1):c.1486G>C (p.Ala496Pro) rs1366675428
NM_000321.3(RB1):c.1492T>A (p.Tyr498Asn) rs2138143164
NM_000321.3(RB1):c.1493A>G (p.Tyr498Cys) rs1948523564
NM_000321.3(RB1):c.1496G>A (p.Ser499Asn) rs774706300
NM_000321.3(RB1):c.1496G>C (p.Ser499Thr) rs774706300
NM_000321.3(RB1):c.1498A>C (p.Arg500=) rs1593456364
NM_000321.3(RB1):c.149A>C (p.Glu50Ala)
NM_000321.3(RB1):c.1500A>C (p.Arg500Ser) rs1368944270
NM_000321.3(RB1):c.1505C>A (p.Thr502Lys)
NM_000321.3(RB1):c.1517T>C (p.Leu506Pro) rs2542206485
NM_000321.3(RB1):c.1519G>C (p.Asp507His) rs2138144909
NM_000321.3(RB1):c.1522T>G (p.Ser508Ala) rs2138144931
NM_000321.3(RB1):c.1523C>T (p.Ser508Phe) rs1204086259
NM_000321.3(RB1):c.1529C>A (p.Thr510Lys) rs2138144966
NM_000321.3(RB1):c.1531G>C (p.Asp511His) rs145729675
NM_000321.3(RB1):c.1532A>G (p.Asp511Gly) rs1948533324
NM_000321.3(RB1):c.153A>C (p.Glu51Asp) rs756860689
NM_000321.3(RB1):c.1540T>C (p.Phe514Leu) rs2138145028
NM_000321.3(RB1):c.1543C>T (p.Pro515Ser) rs866664638
NM_000321.3(RB1):c.1549A>T (p.Ile517Phe)
NM_000321.3(RB1):c.154A>G (p.Thr52Ala) rs1411922611
NM_000321.3(RB1):c.1550T>A (p.Ile517Asn) rs2138145072
NM_000321.3(RB1):c.1553T>C (p.Leu518Pro) rs2138145083
NM_000321.3(RB1):c.1558G>A (p.Val520Met) rs1174618849
NM_000321.3(RB1):c.1558G>C (p.Val520Leu) rs1174618849
NM_000321.3(RB1):c.1559T>C (p.Val520Ala)
NM_000321.3(RB1):c.1561C>A (p.Leu521Ile) rs2138145123
NM_000321.3(RB1):c.1564A>C (p.Asn522His) rs2138145139
NM_000321.3(RB1):c.1574C>A (p.Ala525Asp) rs4151539
NM_000321.3(RB1):c.1576T>C (p.Phe526Leu) rs1331702695
NM_000321.3(RB1):c.157G>C (p.Glu53Gln) rs2138033917
NM_000321.3(RB1):c.1580A>G (p.Asp527Gly) rs2542206713
NM_000321.3(RB1):c.1586A>C (p.Tyr529Ser)
NM_000321.3(RB1):c.1591G>A (p.Val531Met)
NM_000321.3(RB1):c.1592T>C (p.Val531Ala) rs143324585
NM_000321.3(RB1):c.1592T>G (p.Val531Gly) rs143324585
NM_000321.3(RB1):c.1594A>T (p.Ile532Phe) rs2138145305
NM_000321.3(RB1):c.1597G>C (p.Glu533Gln) rs1237070816
NM_000321.3(RB1):c.1598A>G (p.Glu533Gly)
NM_000321.3(RB1):c.1603T>C (p.Phe535Leu) rs2542206800
NM_000321.3(RB1):c.1603T>G (p.Phe535Val)
NM_000321.3(RB1):c.1607T>C (p.Ile536Thr)
NM_000321.3(RB1):c.1613C>T (p.Ala538Val) rs2138145390
NM_000321.3(RB1):c.1618G>A (p.Gly540Ser)
NM_000321.3(RB1):c.1619G>A (p.Gly540Asp) rs769696726
NM_000321.3(RB1):c.1645C>G (p.His549Asp) rs1050717570
NM_000321.3(RB1):c.1646A>G (p.His549Arg) rs2138145592
NM_000321.3(RB1):c.164C>G (p.Pro55Arg) rs2138033964
NM_000321.3(RB1):c.164C>T (p.Pro55Leu) rs2138033964
NM_000321.3(RB1):c.1651G>A (p.Glu551Lys) rs147534828
NM_000321.3(RB1):c.1655G>T (p.Arg552Leu) rs146236493
NM_000321.3(RB1):c.1661A>G (p.Glu554Gly) rs2138145661
NM_000321.3(RB1):c.1664A>G (p.His555Arg) rs1555286700
NM_000321.3(RB1):c.1667G>T (p.Arg556Leu) rs773116120
NM_000321.3(RB1):c.1669A>G (p.Ile557Val) rs1948534909
NM_000321.3(RB1):c.1673T>C (p.Met558Thr) rs139494954
NM_000321.3(RB1):c.1675G>C (p.Glu559Gln) rs1131690869
NM_000321.3(RB1):c.1678T>A (p.Ser560Thr) rs1593457138
NM_000321.3(RB1):c.1684G>T (p.Ala562Ser) rs2138145788
NM_000321.3(RB1):c.1690C>G (p.Leu564Val) rs2138145823
NM_000321.3(RB1):c.1693T>C (p.Ser565Pro) rs918222012
NM_000321.3(RB1):c.1698T>G (p.Asp566Glu) rs1190813356
NM_000321.3(RB1):c.1702C>T (p.Pro568Ser) rs754634473
NM_000321.3(RB1):c.1703C>T (p.Pro568Leu) rs2542360582
NM_000321.3(RB1):c.1706T>C (p.Leu569Ser)
NM_000321.3(RB1):c.1707A>T (p.Leu569Phe) rs3092895
NM_000321.3(RB1):c.1709T>C (p.Phe570Ser) rs2138327013
NM_000321.3(RB1):c.1712A>T (p.Asp571Val) rs2138327023
NM_000321.3(RB1):c.1717A>C (p.Ile573Leu)
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.1726T>A (p.Ser576Thr)
NM_000321.3(RB1):c.172A>G (p.Thr58Ala) rs1593414365
NM_000321.3(RB1):c.1731G>C (p.Lys577Asn) rs1949337837
NM_000321.3(RB1):c.1731G>T (p.Lys577Asn) rs1949337837
NM_000321.3(RB1):c.1733A>G (p.Asp578Gly) rs2542360683
NM_000321.3(RB1):c.1739A>G (p.Glu580Gly) rs2542360705
NM_000321.3(RB1):c.173C>G (p.Thr58Ser) rs138574644
NM_000321.3(RB1):c.1742G>T (p.Gly581Val) rs1350821464
NM_000321.3(RB1):c.1745C>A (p.Pro582Gln) rs757198343
NM_000321.3(RB1):c.1751A>T (p.Asp584Val) rs2138327164
NM_000321.3(RB1):c.1753C>T (p.His585Tyr) rs1401332173
NM_000321.3(RB1):c.1757T>C (p.Leu586Pro) rs2138327183
NM_000321.3(RB1):c.175_177delinsCCT (p.Ala59Pro) rs1593414375
NM_000321.3(RB1):c.1763C>T (p.Ser588Phe) rs1555293637
NM_000321.3(RB1):c.1765G>A (p.Ala589Thr) rs1949338354
NM_000321.3(RB1):c.1768T>G (p.Cys590Gly) rs1060503089
NM_000321.3(RB1):c.1772C>T (p.Pro591Leu) rs1221157259
NM_000321.3(RB1):c.1774C>G (p.Leu592Val) rs1949338600
NM_000321.3(RB1):c.1775T>C (p.Leu592Pro) rs2138327254
NM_000321.3(RB1):c.1781T>C (p.Leu594Pro) rs2542360807
NM_000321.3(RB1):c.1783C>T (p.Pro595Ser) rs1949338684
NM_000321.3(RB1):c.1786C>G (p.Leu596Val) rs2138327308
NM_000321.3(RB1):c.1796A>G (p.Asn599Ser) rs3092896
NM_000321.3(RB1):c.1802C>G (p.Thr601Ser) rs910909092
NM_000321.3(RB1):c.1805C>A (p.Ala602Glu) rs867778929
NM_000321.3(RB1):c.1810G>A (p.Asp604Asn) rs2138327415
NM_000321.3(RB1):c.1814+4A>G rs1131690898
NM_000321.3(RB1):c.1814T>C (p.Met605Thr) rs1555293654
NM_000321.3(RB1):c.1815-3T>G rs2138330949
NM_000321.3(RB1):c.1815-4C>T rs1593531868
NM_000321.3(RB1):c.1816T>C (p.Tyr606His)
NM_000321.3(RB1):c.1817A>G (p.Tyr606Cys) rs2138330973
NM_000321.3(RB1):c.1825C>T (p.Pro609Ser)
NM_000321.3(RB1):c.1828G>A (p.Val610Ile) rs762613976
NM_000321.3(RB1):c.182G>C (p.Cys61Ser) rs1593414390
NM_000321.3(RB1):c.1831A>G (p.Arg611Gly)
NM_000321.3(RB1):c.1832G>T (p.Arg611Ile) rs1359386263
NM_000321.3(RB1):c.1833A>G (p.Arg611=) rs2138331060
NM_000321.3(RB1):c.1835C>A (p.Ser612Tyr)
NM_000321.3(RB1):c.1837C>G (p.Pro613Ala) rs1555293835
NM_000321.3(RB1):c.1846A>G (p.Lys616Glu)
NM_000321.3(RB1):c.1849G>A (p.Gly617Ser) rs2138331127
NM_000321.3(RB1):c.1850G>C (p.Gly617Ala) rs2138331134
NM_000321.3(RB1):c.1853C>T (p.Ser618Leu)
NM_000321.3(RB1):c.185A>G (p.Gln62Arg)
NM_000321.3(RB1):c.1864G>A (p.Val622Ile) rs2138331204
NM_000321.3(RB1):c.1870T>G (p.Ser624Ala)
NM_000321.3(RB1):c.1883C>A (p.Ala628Glu) rs1329826610
NM_000321.3(RB1):c.1883C>G (p.Ala628Gly) rs1329826610
NM_000321.3(RB1):c.1883C>T (p.Ala628Val) rs1329826610
NM_000321.3(RB1):c.1886A>G (p.Glu629Gly) rs2138331309
NM_000321.3(RB1):c.1887G>T (p.Glu629Asp) rs367668687
NM_000321.3(RB1):c.1888_1889delinsGG (p.Thr630Gly) rs2542364144
NM_000321.3(RB1):c.1889C>G (p.Thr630Arg) rs1593532012
NM_000321.3(RB1):c.1895C>A (p.Ala632Glu) rs1949359489
NM_000321.3(RB1):c.1898C>A (p.Thr633Asn) rs587778641
NM_000321.3(RB1):c.1900T>A (p.Ser634Thr) rs2542364196
NM_000321.3(RB1):c.1901C>T (p.Ser634Leu)
NM_000321.3(RB1):c.1908C>G (p.Phe636Leu) rs2138331404
NM_000321.3(RB1):c.1912A>G (p.Thr638Ala) rs2542364234
NM_000321.3(RB1):c.1916A>G (p.Gln639Arg) rs775880919
NM_000321.3(RB1):c.1918A>C (p.Lys640Gln) rs2138331469
NM_000321.3(RB1):c.1922C>T (p.Pro641Leu)
NM_000321.3(RB1):c.1924T>G (p.Leu642Val) rs1949359922
NM_000321.3(RB1):c.1937C>G (p.Ser646Cys) rs1173892082
NM_000321.3(RB1):c.1940T>C (p.Leu647Pro) rs2138331582
NM_000321.3(RB1):c.1942T>G (p.Ser648Ala)
NM_000321.3(RB1):c.1946T>C (p.Leu649Pro) rs768484859
NM_000321.3(RB1):c.1946T>G (p.Leu649Arg) rs768484859
NM_000321.3(RB1):c.1951T>A (p.Tyr651Asn)
NM_000321.3(RB1):c.1954A>G (p.Lys652Glu)
NM_000321.3(RB1):c.1955A>T (p.Lys652Ile)
NM_000321.3(RB1):c.1957A>G (p.Lys653Glu) rs1949360231
NM_000321.3(RB1):c.1961T>C (p.Val654Ala) rs769113950
NM_000321.3(RB1):c.1961T>G (p.Val654Gly) rs769113950
NM_000321.3(RB1):c.1963T>C (p.Tyr655His) rs2138335795
NM_000321.3(RB1):c.1973C>G (p.Ala658Gly)
NM_000321.3(RB1):c.1973C>T (p.Ala658Val) rs587778834
NM_000321.3(RB1):c.1984C>G (p.Leu662Val)
NM_000321.3(RB1):c.1991C>T (p.Thr664Ile) rs749739772
NM_000321.3(RB1):c.1996T>C (p.Cys666Arg) rs1949383921
NM_000321.3(RB1):c.1996T>G (p.Cys666Gly)
NM_000321.3(RB1):c.199C>A (p.Pro67Thr) rs1952089775
NM_000321.3(RB1):c.199C>T (p.Pro67Ser) rs1952089775
NM_000321.3(RB1):c.19C>G (p.Arg7Gly)
NM_000321.3(RB1):c.2002C>A (p.Arg668Ser) rs369755801
NM_000321.3(RB1):c.2009T>A (p.Leu670Gln)
NM_000321.3(RB1):c.2012C>T (p.Ser671Phe)
NM_000321.3(RB1):c.2018A>G (p.His673Arg) rs2138336107
NM_000321.3(RB1):c.2019C>G (p.His673Gln) rs1949384169
NM_000321.3(RB1):c.2020C>T (p.Pro674Ser) rs1949384188
NM_000321.3(RB1):c.2025A>T (p.Glu675Asp)
NM_000321.3(RB1):c.2026T>G (p.Leu676Val) rs2542368220
NM_000321.3(RB1):c.2027T>C (p.Leu676Ser) rs1566235448
NM_000321.3(RB1):c.2033A>G (p.His678Arg) rs201046651
NM_000321.3(RB1):c.203A>C (p.Asp68Ala) rs1952089852
NM_000321.3(RB1):c.2050T>G (p.Phe684Val)
NM_000321.3(RB1):c.2058C>A (p.His686Gln) rs748484148
NM_000321.3(RB1):c.2059A>T (p.Thr687Ser)
NM_000321.3(RB1):c.2060C>A (p.Thr687Asn)
NM_000321.3(RB1):c.2060C>G (p.Thr687Ser) rs2138336291
NM_000321.3(RB1):c.2083A>T (p.Met695Leu) rs1949384922
NM_000321.3(RB1):c.208G>A (p.Val70Ile) rs2138034226
NM_000321.3(RB1):c.2097T>A (p.His699Gln) rs1593534809
NM_000321.3(RB1):c.2102A>C (p.Asp701Ala) rs2542368638
NM_000321.3(RB1):c.2110A>G (p.Met704Val)
NM_000321.3(RB1):c.2114T>C (p.Met705Thr) rs2138342236
NM_000321.3(RB1):c.2120C>T (p.Ser707Phe) rs2138342259
NM_000321.3(RB1):c.2122A>G (p.Met708Val) rs2138342278
NM_000321.3(RB1):c.2134T>G (p.Cys712Gly) rs137853296
NM_000321.3(RB1):c.2138A>G (p.Lys713Arg) rs1593538161
NM_000321.3(RB1):c.214G>A (p.Glu72Lys) rs369833913
NM_000321.3(RB1):c.2150T>C (p.Ile717Thr) rs2138342379
NM_000321.3(RB1):c.2154C>A (p.Asp718Glu) rs1949419727
NM_000321.3(RB1):c.2159A>G (p.Lys720Arg)
NM_000321.3(RB1):c.2165A>G (p.Lys722Arg) rs2542373674
NM_000321.3(RB1):c.2168T>C (p.Ile723Thr)
NM_000321.3(RB1):c.2173G>T (p.Val725Leu) rs2138342507
NM_000321.3(RB1):c.2179G>T (p.Ala727Ser) rs2138342542
NM_000321.3(RB1):c.217A>G (p.Arg73Gly) rs2138034286
NM_000321.3(RB1):c.2185A>G (p.Lys729Glu) rs2138342593
NM_000321.3(RB1):c.2186A>G (p.Lys729Arg) rs150600740
NM_000321.3(RB1):c.2188G>A (p.Asp730Asn)
NM_000321.3(RB1):c.2198A>G (p.His733Arg) rs778503152
NM_000321.3(RB1):c.219A>C (p.Arg73Ser) rs1131690854
NM_000321.3(RB1):c.2207A>C (p.Gln736Pro) rs1372842030
NM_000321.3(RB1):c.2208G>T (p.Gln736His)
NM_000321.3(RB1):c.220G>A (p.Ala74Thr) rs1952090208
NM_000321.3(RB1):c.2211+4G>A rs1060503076
NM_000321.3(RB1):c.2211+4G>T rs1060503076
NM_000321.3(RB1):c.2212A>G (p.Thr738Ala)
NM_000321.3(RB1):c.2218A>G (p.Lys740Glu) rs2138344544
NM_000321.3(RB1):c.221C>T (p.Ala74Val) rs764472420
NM_000321.3(RB1):c.2222G>C (p.Arg741Pro)
NM_000321.3(RB1):c.2222G>T (p.Arg741Leu) rs764520289
NM_000321.3(RB1):c.2224G>A (p.Val742Ile)
NM_000321.3(RB1):c.2228T>C (p.Leu743Ser) rs2138344588
NM_000321.3(RB1):c.2229G>T (p.Leu743Phe) rs1593539141
NM_000321.3(RB1):c.2236G>C (p.Glu746Gln) rs958914211
NM_000321.3(RB1):c.2237A>G (p.Glu746Gly) rs3092905
NM_000321.3(RB1):c.2239GAG[1] (p.Glu748del) rs2138344648
NM_000321.3(RB1):c.2245T>C (p.Tyr749His) rs2138344682
NM_000321.3(RB1):c.2248G>T (p.Asp750Tyr) rs2542375225
NM_000321.3(RB1):c.224G>T (p.Trp75Leu) rs2138034351
NM_000321.3(RB1):c.2255T>C (p.Ile752Thr) rs2542375251
NM_000321.3(RB1):c.2257A>T (p.Ile753Leu) rs2138344729
NM_000321.3(RB1):c.2260G>C (p.Val754Leu) rs587778642
NM_000321.3(RB1):c.2261T>C (p.Val754Ala) rs2138344743
NM_000321.3(RB1):c.2281A>T (p.Met761Leu) rs2138344874
NM_000321.3(RB1):c.2282T>C (p.Met761Thr) rs2138344879
NM_000321.3(RB1):c.2283G>T (p.Met761Ile)
NM_000321.3(RB1):c.2284C>A (p.Gln762Lys) rs1593539225
NM_000321.3(RB1):c.2285A>G (p.Gln762Arg)
NM_000321.3(RB1):c.2286G>C (p.Gln762His)
NM_000321.3(RB1):c.2288G>A (p.Arg763Lys) rs2138344904
NM_000321.3(RB1):c.2291T>G (p.Leu764Arg) rs2138344920
NM_000321.3(RB1):c.2294A>G (p.Lys765Arg) rs2138344931
NM_000321.3(RB1):c.2299A>G (p.Asn767Asp) rs2138344953
NM_000321.3(RB1):c.22A>G (p.Lys8Glu) rs2542093267
NM_000321.3(RB1):c.2300A>G (p.Asn767Ser)
NM_000321.3(RB1):c.2307G>T (p.Leu769Phe)
NM_000321.3(RB1):c.2309A>C (p.Gln770Pro) rs2138344994
NM_000321.3(RB1):c.2311T>C (p.Tyr771His) rs746038522
NM_000321.3(RB1):c.2312A>G (p.Tyr771Cys) rs1363146373
NM_000321.3(RB1):c.2320A>T (p.Thr774Ser) rs2138345047
NM_000321.3(RB1):c.2321C>G (p.Thr774Ser)
NM_000321.3(RB1):c.2321C>T (p.Thr774Ile) rs2138345051
NM_000321.3(RB1):c.2324G>A (p.Arg775Lys) rs1593539271
NM_000321.3(RB1):c.2325+3A>G rs2138345086
NM_000321.3(RB1):c.2326C>G (p.Pro776Ala) rs2138345448
NM_000321.3(RB1):c.2326C>T (p.Pro776Ser) rs2138345448
NM_000321.3(RB1):c.2327C>A (p.Pro776His) rs912203557
NM_000321.3(RB1):c.2336T>C (p.Leu779Ser) rs2542375665
NM_000321.3(RB1):c.233G>C (p.Trp78Ser) rs1593414417
NM_000321.3(RB1):c.2345T>C (p.Ile782Thr) rs1949432262
NM_000321.3(RB1):c.2346A>G (p.Ile782Met) rs2138345543
NM_000321.3(RB1):c.2351A>T (p.His784Leu) rs1949432315
NM_000321.3(RB1):c.2353A>C (p.Ile785Leu) rs2138345573
NM_000321.3(RB1):c.2359C>G (p.Arg787Gly) rs137853293
NM_000321.3(RB1):c.235G>C (p.Glu79Gln) rs1060503090
NM_000321.3(RB1):c.2365C>T (p.Pro789Ser) rs1949432512
NM_000321.3(RB1):c.2366C>A (p.Pro789His) rs1467492987
NM_000321.3(RB1):c.2366C>T (p.Pro789Leu) rs1467492987
NM_000321.3(RB1):c.2369A>G (p.Tyr790Cys) rs2138345647
NM_000321.3(RB1):c.2373G>T (p.Lys791Asn) rs2138345672
NM_000321.3(RB1):c.2378C>T (p.Pro793Leu)
NM_000321.3(RB1):c.2380A>G (p.Ser794Gly)
NM_000321.3(RB1):c.2381G>A (p.Ser794Asn) rs1240896329
NM_000321.3(RB1):c.2383T>C (p.Ser795Pro)
NM_000321.3(RB1):c.2396T>A (p.Ile799Asn) rs1949432954
NM_000321.3(RB1):c.2396_2398delinsATA (p.Ile799_Pro800delinsAsnThr) rs2542375897
NM_000321.3(RB1):c.2398C>A (p.Pro800Thr) rs1949432999
NM_000321.3(RB1):c.2398C>T (p.Pro800Ser) rs1949432999
NM_000321.3(RB1):c.2402G>A (p.Gly801Glu) rs1451667942
NM_000321.3(RB1):c.2404G>A (p.Gly802Arg) rs2138345824
NM_000321.3(RB1):c.2405G>A (p.Gly802Glu) rs2138345831
NM_000321.3(RB1):c.2408A>C (p.Asn803Thr) rs2138345856
NM_000321.3(RB1):c.2410A>G (p.Ile804Val) rs2138345875
NM_000321.3(RB1):c.2417T>G (p.Ile806Ser) rs2542375960
NM_000321.3(RB1):c.2420C>T (p.Ser807Leu) rs2138345919
NM_000321.3(RB1):c.2422C>T (p.Pro808Ser) rs2138345937
NM_000321.3(RB1):c.2426T>G (p.Leu809Arg) rs2138345964
NM_000321.3(RB1):c.2441A>C (p.Lys814Thr) rs1566237785
NM_000321.3(RB1):c.2441A>G (p.Lys814Arg) rs1566237785
NM_000321.3(RB1):c.2442A>C (p.Lys814Asn) rs1566237790
NM_000321.3(RB1):c.2445T>G (p.Ile815Met) rs2138346036
NM_000321.3(RB1):c.244T>A (p.Ser82Thr) rs1233268756
NM_000321.3(RB1):c.2452G>A (p.Gly818Ser)
NM_000321.3(RB1):c.2452G>C (p.Gly818Arg) rs2138346071
NM_000321.3(RB1):c.2453G>A (p.Gly818Asp) rs1949433617
NM_000321.3(RB1):c.2453G>T (p.Gly818Val) rs1949433617
NM_000321.3(RB1):c.2465C>G (p.Pro822Arg)
NM_000321.3(RB1):c.2468C>G (p.Thr823Arg)
NM_000321.3(RB1):c.2470A>G (p.Lys824Glu) rs2138346181
NM_000321.3(RB1):c.2473A>G (p.Met825Val) rs2138346201
NM_000321.3(RB1):c.2475G>A (p.Met825Ile) rs1949433927
NM_000321.3(RB1):c.2475G>T (p.Met825Ile) rs1949433927
NM_000321.3(RB1):c.2477C>A (p.Thr826Asn) rs2138346232
NM_000321.3(RB1):c.2479C>T (p.Pro827Ser) rs1949433950
NM_000321.3(RB1):c.2489+4T>C rs2138346333
NM_000321.3(RB1):c.2490-5G>A rs1593544633
NM_000321.3(RB1):c.2497G>A (p.Val833Ile) rs2138354621
NM_000321.3(RB1):c.2497G>C (p.Val833Leu) rs2138354621
NM_000321.3(RB1):c.2498T>G (p.Val833Gly)
NM_000321.3(RB1):c.24A>C (p.Lys8Asn) rs2138027103
NM_000321.3(RB1):c.2504T>C (p.Ile835Thr) rs776167810
NM_000321.3(RB1):c.2511A>C (p.Glu837Asp)
NM_000321.3(RB1):c.2511A>G (p.Glu837=) rs1949484299
NM_000321.3(RB1):c.2518G>C (p.Gly840Arg) rs374157786
NM_000321.3(RB1):c.2518G>T (p.Gly840Trp) rs374157786
NM_000321.3(RB1):c.2519G>A (p.Gly840Glu) rs1131690900
NM_000321.3(RB1):c.2520+3G>A rs868434367
NM_000321.3(RB1):c.2520G>T (p.Gly840=) rs1949484533
NM_000321.3(RB1):c.2521A>T (p.Thr841Ser)
NM_000321.3(RB1):c.2537A>G (p.Gln846Arg)
NM_000321.3(RB1):c.2540A>G (p.Lys847Arg) rs2138358982
NM_000321.3(RB1):c.2551A>G (p.Met851Val) rs2138359026
NM_000321.3(RB1):c.2551A>T (p.Met851Leu) rs2138359026
NM_000321.3(RB1):c.2553G>T (p.Met851Ile)
NM_000321.3(RB1):c.2557T>G (p.Cys853Gly) rs1295589257
NM_000321.3(RB1):c.2558G>A (p.Cys853Tyr) rs1566240940
NM_000321.3(RB1):c.2558G>T (p.Cys853Phe)
NM_000321.3(RB1):c.2562C>G (p.Asn854Lys) rs1351381552
NM_000321.3(RB1):c.2566G>T (p.Asp856Tyr) rs149359120
NM_000321.3(RB1):c.2570G>T (p.Arg857Leu) rs144668210
NM_000321.3(RB1):c.2572G>C (p.Val858Leu) rs2138359177
NM_000321.3(RB1):c.2575C>A (p.Leu859Ile) rs2542384372
NM_000321.3(RB1):c.2575C>T (p.Leu859Phe) rs2542384372
NM_000321.3(RB1):c.2587G>A (p.Ala863Thr) rs1949506505
NM_000321.3(RB1):c.2588C>A (p.Ala863Asp) rs2138359250
NM_000321.3(RB1):c.2597G>A (p.Ser866Asn) rs1593547165
NM_000321.3(RB1):c.2609A>G (p.Lys870Arg) rs2138359375
NM_000321.3(RB1):c.2611C>A (p.Pro871Thr) rs2138359377
NM_000321.3(RB1):c.2615T>A (p.Leu872Gln) rs1470516350
NM_000321.3(RB1):c.2627G>A (p.Arg876His) rs767232453
NM_000321.3(RB1):c.2632G>A (p.Asp878Asn) rs2138359492
NM_000321.3(RB1):c.2635A>G (p.Ile879Val) rs2138359514
NM_000321.3(RB1):c.263T>G (p.Leu88Trp) rs1555279518
NM_000321.3(RB1):c.264+5G>C rs1131690853
NM_000321.3(RB1):c.2642G>A (p.Gly881Glu) rs1949507139
NM_000321.3(RB1):c.2642G>C (p.Gly881Ala) rs1949507139
NM_000321.3(RB1):c.2648A>G (p.Asp883Gly) rs2542384563
NM_000321.3(RB1):c.265-3C>G
NM_000321.3(RB1):c.2659G>A (p.Gly887Arg) rs777789154
NM_000321.3(RB1):c.2668C>T (p.His890Tyr)
NM_000321.3(RB1):c.2674C>T (p.Pro892Ser) rs1949510444
NM_000321.3(RB1):c.2675C>A (p.Pro892Gln) rs768950233
NM_000321.3(RB1):c.2675C>T (p.Pro892Leu) rs768950233
NM_000321.3(RB1):c.268G>C (p.Gly90Arg)
NM_000321.3(RB1):c.2704G>A (p.Ala902Thr) rs2138360977
NM_000321.3(RB1):c.2709A>C (p.Glu903Asp)
NM_000321.3(RB1):c.2712G>C (p.Met904Ile)
NM_000321.3(RB1):c.2712G>T (p.Met904Ile) rs1461167778
NM_000321.3(RB1):c.2713A>G (p.Thr905Ala)
NM_000321.3(RB1):c.2720C>A (p.Thr907Asn) rs2138364355
NM_000321.3(RB1):c.2720C>T (p.Thr907Ile) rs2138364355
NM_000321.3(RB1):c.2723G>A (p.Arg908Gln)
NM_000321.3(RB1):c.2726C>T (p.Thr909Ile) rs761999108
NM_000321.3(RB1):c.2729G>A (p.Arg910Gln) rs1360367329
NM_000321.3(RB1):c.2732T>C (p.Met911Thr)
NM_000321.3(RB1):c.2735A>G (p.Gln912Arg) rs1949528429
NM_000321.3(RB1):c.2737A>G (p.Lys913Glu) rs2542387790
NM_000321.3(RB1):c.2746A>G (p.Met916Val) rs1949528459
NM_000321.3(RB1):c.2746A>T (p.Met916Leu)
NM_000321.3(RB1):c.2755A>G (p.Ser919Gly) rs1555295597
NM_000321.3(RB1):c.2756G>A (p.Ser919Asn)
NM_000321.3(RB1):c.2761G>A (p.Asp921Asn) rs1949528654
NM_000321.3(RB1):c.2761G>T (p.Asp921Tyr)
NM_000321.3(RB1):c.2779G>C (p.Glu927Gln) rs1949528826
NM_000321.3(RB1):c.2781G>T (p.Glu927Asp) rs756634613
NM_000321.3(RB1):c.2782A>T (p.Lys928Ter) rs2542387928
NM_000321.3(RB1):c.283A>C (p.Lys95Gln) rs1555282775
NM_000321.3(RB1):c.28GCC[3] (p.Ala11_Thr12insAla)
NM_000321.3(RB1):c.297G>C (p.Trp99Cys) rs794727481
NM_000321.3(RB1):c.299G>A (p.Gly100Glu) rs886050268
NM_000321.3(RB1):c.299G>C (p.Gly100Ala) rs886050268
NM_000321.3(RB1):c.301A>G (p.Ile101Val) rs1555282783
NM_000321.3(RB1):c.304T>C (p.Cys102Arg) rs2138083717
NM_000321.3(RB1):c.307A>G (p.Ile103Val) rs2138083745
NM_000321.3(RB1):c.308T>C (p.Ile103Thr) rs1593434231
NM_000321.3(RB1):c.319G>A (p.Ala107Thr) rs2138083796
NM_000321.3(RB1):c.323T>C (p.Val108Ala) rs376408183
NM_000321.3(RB1):c.328C>G (p.Leu110Val) rs2138083849
NM_000321.3(RB1):c.32C>G (p.Ala11Gly) rs899323337
NM_000321.3(RB1):c.334G>A (p.Glu112Lys) rs1199831823
NM_000321.3(RB1):c.336G>T (p.Glu112Asp)
NM_000321.3(RB1):c.337A>C (p.Met113Leu) rs1593434246
NM_000321.3(RB1):c.337A>G (p.Met113Val) rs1593434246
NM_000321.3(RB1):c.343T>C (p.Phe115Leu) rs1555282792
NM_000321.3(RB1):c.347C>T (p.Thr116Ile) rs2542156181
NM_000321.3(RB1):c.349T>C (p.Phe117Leu) rs2542156190
NM_000321.3(RB1):c.34_36dup (p.Thr12_Ala13insThr) rs1471810016
NM_000321.3(RB1):c.34_42dup (p.Ala14_Ala15insThrAlaAla)
NM_000321.3(RB1):c.34_51del (p.Thr12_Ala17del) rs2542093312
NM_000321.3(RB1):c.353C>A (p.Thr118Asn) rs2138083971
NM_000321.3(RB1):c.357G>T (p.Glu119Asp) rs1593434283
NM_000321.3(RB1):c.364A>C (p.Lys122Gln) rs1301539544
NM_000321.3(RB1):c.372A>G (p.Ile124Met) rs1593434342
NM_000321.3(RB1):c.373G>A (p.Glu125Lys) rs1952457111
NM_000321.3(RB1):c.381-3T>C
NM_000321.3(RB1):c.381-4G>T rs2138087127
NM_000321.3(RB1):c.382G>A (p.Val128Ile) rs1952480074
NM_000321.3(RB1):c.383T>C (p.Val128Ala) rs1566186839
NM_000321.3(RB1):c.387T>G (p.His129Gln) rs1593435676
NM_000321.3(RB1):c.38C>G (p.Ala13Gly) rs2138027251
NM_000321.3(RB1):c.392T>C (p.Phe131Ser) rs1593435687
NM_000321.3(RB1):c.393C>A (p.Phe131Leu) rs749495284
NM_000321.3(RB1):c.397A>C (p.Asn133His) rs3092900
NM_000321.3(RB1):c.400T>G (p.Leu134Val) rs2138087245
NM_000321.3(RB1):c.404T>C (p.Leu135Pro) rs1593435713
NM_000321.3(RB1):c.406A>G (p.Lys136Glu) rs2138087276
NM_000321.3(RB1):c.408A>C (p.Lys136Asn) rs2542159257
NM_000321.3(RB1):c.40_41delinsCT (p.Ala14Leu) rs2542093473
NM_000321.3(RB1):c.413T>C (p.Ile138Thr)
NM_000321.3(RB1):c.428A>C (p.Lys143Thr) rs1952480749
NM_000321.3(RB1):c.431T>C (p.Val144Ala) rs2138087434
NM_000321.3(RB1):c.436A>C (p.Asn146His) rs1266294051
NM_000321.3(RB1):c.43G>C (p.Ala15Pro) rs587778638
NM_000321.3(RB1):c.451C>G (p.Leu151Val) rs2138087578
NM_000321.3(RB1):c.452T>A (p.Leu151Gln) rs2138087581
NM_000321.3(RB1):c.459G>C (p.Lys153Asn) rs773642334
NM_000321.3(RB1):c.45_50dup (p.Ala17_Ala18dup) rs1173330253
NM_000321.3(RB1):c.45_53dup (p.Ala16_Ala18dup) rs572454921
NM_000321.3(RB1):c.466G>C (p.Asp156His) rs1034616967
NM_000321.3(RB1):c.469G>A (p.Val157Ile) rs2138087706
NM_000321.3(RB1):c.474G>T (p.Leu158Phe) rs1319691084
NM_000321.3(RB1):c.477T>A (p.Phe159Leu) rs1952481513
NM_000321.3(RB1):c.481C>T (p.Leu161Phe) rs2138087763
NM_000321.3(RB1):c.484T>G (p.Phe162Val)
NM_000321.3(RB1):c.485T>C (p.Phe162Ser) rs764881599
NM_000321.3(RB1):c.498A>T (p.Glu166Asp)
NM_000321.3(RB1):c.49G>A (p.Ala17Thr) rs1566174092
NM_000321.3(RB1):c.49G>T (p.Ala17Ser) rs1566174092
NM_000321.3(RB1):c.500G>A (p.Arg167Lys) rs2138087857
NM_000321.3(RB1):c.500G>C (p.Arg167Thr) rs2138087857
NM_000321.3(RB1):c.501-2A>C
NM_000321.3(RB1):c.501-2A>G rs2138091518
NM_000321.3(RB1):c.501-3C>A
NM_000321.3(RB1):c.501G>T (p.Arg167Ser) rs2138091522
NM_000321.3(RB1):c.503C>T (p.Thr168Ile) rs2138091530
NM_000321.3(RB1):c.509A>G (p.Glu170Gly) rs2542163619
NM_000321.3(RB1):c.50C>T (p.Ala17Val) rs1593412070
NM_000321.3(RB1):c.512T>C (p.Leu171Pro) rs2542163637
NM_000321.3(RB1):c.514A>G (p.Ile172Val) rs2138091600
NM_000321.3(RB1):c.514A>T (p.Ile172Leu) rs2138091600
NM_000321.3(RB1):c.515T>C (p.Ile172Thr) rs1952511717
NM_000321.3(RB1):c.516A>G (p.Ile172Met) rs1179558571
NM_000321.3(RB1):c.520T>G (p.Leu174Val) rs1426744051
NM_000321.3(RB1):c.522G>C (p.Leu174Phe)
NM_000321.3(RB1):c.529C>G (p.Pro177Ala) rs1357310270
NM_000321.3(RB1):c.530C>G (p.Pro177Arg) rs1952511945
NM_000321.3(RB1):c.531CAG[1] (p.Ser180del) rs2542163740
NM_000321.3(RB1):c.533G>A (p.Ser178Asn) rs2138091710
NM_000321.3(RB1):c.534C>G (p.Ser178Arg) rs2138091716
NM_000321.3(RB1):c.539+1G>C rs1566187856
NM_000321.3(RB1):c.539+1G>T rs1566187856
NM_000321.3(RB1):c.539+3A>G rs2542163790
NM_000321.3(RB1):c.541A>G (p.Ile181Val) rs781708508
NM_000321.3(RB1):c.543A>G (p.Ile181Met) rs2138093431
NM_000321.3(RB1):c.545C>A (p.Ser182Tyr) rs2138093433
NM_000321.3(RB1):c.545C>T (p.Ser182Phe) rs2138093433
NM_000321.3(RB1):c.548C>T (p.Thr183Ile) rs1952522583
NM_000321.3(RB1):c.554T>C (p.Ile185Thr) rs2542165761
NM_000321.3(RB1):c.554T>G (p.Ile185Arg) rs2542165761
NM_000321.3(RB1):c.557A>G (p.Asn186Ser) rs2138093488
NM_000321.3(RB1):c.560C>G (p.Ser187Cys) rs770277291
NM_000321.3(RB1):c.569T>C (p.Val190Ala)
NM_000321.3(RB1):c.56A>G (p.Glu19Gly)
NM_000321.3(RB1):c.575A>G (p.Lys192Arg) rs888654278
NM_000321.3(RB1):c.577G>C (p.Val193Leu) rs1952523027
NM_000321.3(RB1):c.578T>C (p.Val193Ala) rs1060503093
NM_000321.3(RB1):c.583T>G (p.Trp195Gly) rs2542165948
NM_000321.3(RB1):c.589A>G (p.Thr197Ala) rs1421476380
NM_000321.3(RB1):c.58C>A (p.Pro20Thr)
NM_000321.3(RB1):c.58C>T (p.Pro20Ser) rs1297224382
NM_000321.3(RB1):c.58_59delinsTT (p.Pro20Phe)
NM_000321.3(RB1):c.590C>A (p.Thr197Lys) rs1131690883
NM_000321.3(RB1):c.590C>T (p.Thr197Ile) rs1131690883
NM_000321.3(RB1):c.602C>T (p.Ala201Val) rs2138093761
NM_000321.3(RB1):c.607+5G>A rs2138093817
NM_000321.3(RB1):c.607G>T (p.Gly203Trp) rs1012377281
NM_000321.3(RB1):c.608-5_608-4del
NM_000321.3(RB1):c.608G>A (p.Gly203Glu) rs2138107541
NM_000321.3(RB1):c.611A>G (p.Glu204Gly) rs1446210103
NM_000321.3(RB1):c.624G>A (p.Met208Ile) rs2138107618
NM_000321.3(RB1):c.62C>G (p.Pro21Arg) rs1444353743
NM_000321.3(RB1):c.62C>T (p.Pro21Leu) rs1444353743
NM_000321.3(RB1):c.643T>C (p.Ser215Pro) rs748923368
NM_000321.3(RB1):c.665T>A (p.Val222Asp)
NM_000321.3(RB1):c.66_68del (p.Pro29del) rs1298675805
NM_000321.3(RB1):c.674A>G (p.Tyr225Cys) rs771567627
NM_000321.3(RB1):c.679A>G (p.Ile227Val) rs2138107872
NM_000321.3(RB1):c.679A>T (p.Ile227Phe)
NM_000321.3(RB1):c.681T>G (p.Ile227Met) rs773192598
NM_000321.3(RB1):c.684A>C (p.Lys228Asn)
NM_000321.3(RB1):c.689C>T (p.Ser230Leu) rs1459523811
NM_000321.3(RB1):c.68C>G (p.Pro23Arg) rs1952053594
NM_000321.3(RB1):c.68C>T (p.Pro23Leu) rs1952053594
NM_000321.3(RB1):c.698T>C (p.Met233Thr) rs2542178738
NM_000321.3(RB1):c.699G>A (p.Met233Ile) rs1952626050
NM_000321.3(RB1):c.69GCC[6] (p.Pro28_Pro29dup) rs587778823
NM_000321.3(RB1):c.700T>G (p.Leu234Val) rs1362138725
NM_000321.3(RB1):c.703C>T (p.Leu235Phe) rs1952626166
NM_000321.3(RB1):c.708A>T (p.Lys236Asn) rs1173696113
NM_000321.3(RB1):c.712C>G (p.Pro238Ala) rs1402069667
NM_000321.3(RB1):c.712_714del (p.Pro238del)
NM_000321.3(RB1):c.715T>C (p.Tyr239His) rs2138108043
NM_000321.3(RB1):c.718+5G>T rs1131690848
NM_000321.3(RB1):c.718A>G (p.Lys240Glu) rs2138108056
NM_000321.3(RB1):c.719-2A>C rs1952654925
NM_000321.3(RB1):c.719-3C>T rs2138112047
NM_000321.3(RB1):c.719-4A>G rs2138112038
NM_000321.3(RB1):c.71C>A (p.Pro24Gln) rs1285455572
NM_000321.3(RB1):c.722C>T (p.Thr241Ile) rs1593445085
NM_000321.3(RB1):c.724G>A (p.Ala242Thr) rs2138112090
NM_000321.3(RB1):c.727G>C (p.Val243Leu) rs1952655034
NM_000321.3(RB1):c.734C>T (p.Pro245Leu) rs2138112166
NM_000321.3(RB1):c.736A>G (p.Ile246Val)
NM_000321.3(RB1):c.739A>G (p.Asn247Asp) rs1429451823
NM_000321.3(RB1):c.740A>G (p.Asn247Ser) rs2138112198
NM_000321.3(RB1):c.745T>A (p.Ser249Thr) rs2138112221
NM_000321.3(RB1):c.748C>T (p.Pro250Ser) rs1566192505
NM_000321.3(RB1):c.751C>G (p.Arg251Gly) rs1131690863
NM_000321.3(RB1):c.755C>T (p.Thr252Ile)
NM_000321.3(RB1):c.760A>G (p.Arg254Gly) rs2138112300
NM_000321.3(RB1):c.764G>A (p.Arg255Gln) rs746954896
NM_000321.3(RB1):c.766G>C (p.Gly256Arg) rs1952655715
NM_000321.3(RB1):c.76C>T (p.Pro26Ser) rs2138027626
NM_000321.3(RB1):c.770A>G (p.Gln257Arg) rs1232080974
NM_000321.3(RB1):c.773A>G (p.Asn258Ser) rs1952655871
NM_000321.3(RB1):c.775A>G (p.Arg259Gly) rs1299654789
NM_000321.3(RB1):c.775A>T (p.Arg259Trp) rs1299654789
NM_000321.3(RB1):c.781G>A (p.Ala261Thr) rs2138112421
NM_000321.3(RB1):c.787A>G (p.Ile263Val) rs2542182112
NM_000321.3(RB1):c.788T>G (p.Ile263Arg) rs2138112463
NM_000321.3(RB1):c.78_83dup (p.Pro28_Pro29dup) rs1555279223
NM_000321.3(RB1):c.791C>G (p.Ala264Gly) rs2542182154
NM_000321.3(RB1):c.791C>T (p.Ala264Val) rs2542182154
NM_000321.3(RB1):c.795A>C (p.Lys265Asn)
NM_000321.3(RB1):c.796C>A (p.Gln266Lys) rs2138112509
NM_000321.3(RB1):c.79C>T (p.Pro27Ser) rs1309325353
NM_000321.3(RB1):c.7C>G (p.Pro3Ala) rs2138026983
NM_000321.3(RB1):c.7C>T (p.Pro3Ser) rs2138026983
NM_000321.3(RB1):c.807T>G (p.Asn269Lys) rs922948338
NM_000321.3(RB1):c.812C>A (p.Thr271Lys)
NM_000321.3(RB1):c.812C>T (p.Thr271Ile) rs1191072088
NM_000321.3(RB1):c.814A>G (p.Arg272Gly) rs1555284945
NM_000321.3(RB1):c.817A>G (p.Ile273Val) rs2542182247
NM_000321.3(RB1):c.820A>G (p.Ile274Val) rs576147971
NM_000321.3(RB1):c.829C>G (p.Leu277Val) rs2138112682
NM_000321.3(RB1):c.82C>A (p.Pro28Thr) rs1020342293
NM_000321.3(RB1):c.82C>G (p.Pro28Ala)
NM_000321.3(RB1):c.835A>G (p.Lys279Glu)
NM_000321.3(RB1):c.836A>G (p.Lys279Arg)
NM_000321.3(RB1):c.83C>T (p.Pro28Leu) rs776175164
NM_000321.3(RB1):c.841C>T (p.His281Tyr) rs933023013
NM_000321.3(RB1):c.842A>G (p.His281Arg) rs2138112774
NM_000321.3(RB1):c.853A>G (p.Ile285Val) rs1593445228
NM_000321.3(RB1):c.855A>G (p.Ile285Met) rs1566192594
NM_000321.3(RB1):c.860A>G (p.Glu287Gly) rs1952657220
NM_000321.3(RB1):c.862G>A (p.Val288Met) rs1555285117
NM_000321.3(RB1):c.867A>C (p.Lys289Asn) rs1555285126
NM_000321.3(RB1):c.86C>T (p.Pro29Leu) rs938094455
NM_000321.3(RB1):c.871G>A (p.Val291Ile) rs2542184997
NM_000321.3(RB1):c.871G>T (p.Val291Phe) rs2542184997
NM_000321.3(RB1):c.881A>C (p.Lys294Thr) rs1453047397
NM_000321.3(RB1):c.884A>G (p.Asn295Ser) rs2138116381
NM_000321.3(RB1):c.889A>T (p.Ile297Leu) rs1286975378
NM_000321.3(RB1):c.88G>C (p.Glu30Gln) rs1555279228
NM_000321.3(RB1):c.892C>A (p.Pro298Thr) rs2138116427
NM_000321.3(RB1):c.893C>A (p.Pro298His) rs759675910
NM_000321.3(RB1):c.895T>C (p.Phe299Leu)
NM_000321.3(RB1):c.898A>T (p.Met300Leu)
NM_000321.3(RB1):c.899T>C (p.Met300Thr) rs2138116475
NM_000321.3(RB1):c.905C>A (p.Ser302Tyr) rs1208736713
NM_000321.3(RB1):c.907C>G (p.Leu303Val) rs1411089830
NM_000321.3(RB1):c.907C>T (p.Leu303Phe) rs1411089830
NM_000321.3(RB1):c.908T>A (p.Leu303His)
NM_000321.3(RB1):c.908T>G (p.Leu303Arg) rs900955797
NM_000321.3(RB1):c.910G>C (p.Gly304Arg)
NM_000321.3(RB1):c.913C>T (p.Leu305Phe) rs1292944238
NM_000321.3(RB1):c.914T>C (p.Leu305Pro) rs2542185170
NM_000321.3(RB1):c.920C>G (p.Thr307Arg) rs183898408
NM_000321.3(RB1):c.923C>T (p.Ser308Phe) rs2138116606
NM_000321.3(RB1):c.925A>G (p.Asn309Asp) rs1328571912
NM_000321.3(RB1):c.926A>C (p.Asn309Thr)
NM_000321.3(RB1):c.926A>G (p.Asn309Ser) rs1952680701
NM_000321.3(RB1):c.941T>C (p.Val314Ala) rs780006952
NM_000321.3(RB1):c.949C>G (p.Leu317Val)
NM_000321.3(RB1):c.94G>A (p.Asp32Asn) rs1593412219
NM_000321.3(RB1):c.959G>T (p.Arg320Leu) rs760787104
NM_000321.3(RB1):c.962A>G (p.Tyr321Cys) rs1566194338
NM_000321.3(RB1):c.964G>A (p.Glu322Lys) rs776534331
NM_000321.3(RB1):c.968A>C (p.Glu323Ala)
NM_000321.3(RB1):c.969A>C (p.Glu323Asp) rs2542188451
NM_000321.3(RB1):c.971T>C (p.Ile324Thr) rs2138121115
NM_000321.3(RB1):c.974A>C (p.Tyr325Ser) rs2542188468
NM_000321.3(RB1):c.976C>T (p.Leu326Phe) rs1566194351
NM_000321.3(RB1):c.981A>C (p.Lys327Asn) rs2542188491
NM_000321.3(RB1):c.982_987del (p.Asn328_Lys329del) rs878853952
NM_000321.3(RB1):c.984T>A (p.Asn328Lys) rs1952716275
NM_000321.3(RB1):c.988G>T (p.Asp330Tyr) rs763377384
NM_000321.3(RB1):c.989A>T (p.Asp330Val) rs2542188536
NM_000321.3(RB1):c.98_124dup (p.Asp41_Leu42insProGluGlnAspSerGlyProGluAsp) rs2542094116
NM_000321.3(RB1):c.990T>G (p.Asp330Glu) rs2138121244
NM_000321.3(RB1):c.998C>A (p.Ala333Glu) rs2138121300

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