ClinVar Miner

List of variants in gene RB1 reported by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1209
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HGVS dbSNP gnomAD frequency
NM_000321.3(RB1):c.1574C>G (p.Ala525Gly) rs4151539 0.00623
NM_000321.3(RB1):c.2521-11G>A rs4151624 0.00570
NM_000321.3(RB1):c.1390-11A>G rs200658795 0.00365
NM_000321.3(RB1):c.1632A>G (p.Arg544=) rs143948310 0.00245
NM_000321.3(RB1):c.42C>T (p.Ala14=) rs148980395 0.00162
NM_000321.3(RB1):c.380+10C>G rs187110786 0.00158
NM_000321.3(RB1):c.1129A>T (p.Thr377Ser) rs146897002 0.00080
NM_000321.3(RB1):c.920C>T (p.Thr307Ile) rs183898408 0.00079
NM_000321.3(RB1):c.52G>T (p.Ala18Ser) rs528218090 0.00076
NM_000321.3(RB1):c.2566G>A (p.Asp856Asn) rs149359120 0.00075
NM_000321.3(RB1):c.1770T>C (p.Cys590=) rs145310579 0.00062
NM_000321.3(RB1):c.1966C>T (p.Arg656Trp) rs142509759 0.00059
NM_000321.3(RB1):c.1707A>G (p.Leu569=) rs3092895 0.00052
NM_000321.3(RB1):c.2392C>T (p.Arg798Trp) rs187912365 0.00051
NM_000321.3(RB1):c.411A>T (p.Glu137Asp) rs3092902 0.00040
NM_000321.3(RB1):c.1140C>T (p.Asn380=) rs117865557 0.00029
NM_000321.3(RB1):c.929G>A (p.Gly310Glu) rs200844292 0.00029
NM_000321.3(RB1):c.113G>A (p.Gly38Asp) rs766529534 0.00016
NM_000321.3(RB1):c.1491A>T (p.Thr497=) rs150115447 0.00015
NM_000321.3(RB1):c.1156A>G (p.Met386Val) rs564780653 0.00014
NM_000321.3(RB1):c.1306C>A (p.Gln436Lys) rs4151534 0.00014
NM_000321.3(RB1):c.2570G>A (p.Arg857His) rs144668210 0.00013
NM_000321.3(RB1):c.2463A>G (p.Thr821=) rs370088029 0.00011
NM_000321.3(RB1):c.59C>T (p.Pro20Leu) rs587778637 0.00011
NM_000321.3(RB1):c.367A>G (p.Asn123Asp) rs149800437 0.00010
NM_000321.3(RB1):c.36C>T (p.Thr12=) rs779180897 0.00010
NM_000321.3(RB1):c.1862G>A (p.Arg621His) rs373601944 0.00009
NM_000321.3(RB1):c.628G>T (p.Asp210Tyr) rs148992508 0.00009
NM_000321.3(RB1):c.959G>A (p.Arg320Gln) rs760787104 0.00009
NM_000321.3(RB1):c.2464C>G (p.Pro822Ala) rs368413787 0.00008
NM_000321.3(RB1):c.1467C>T (p.Cys489=) rs141608408 0.00007
NM_000321.3(RB1):c.1967G>A (p.Arg656Gln) rs202031219 0.00007
NM_000321.3(RB1):c.1764T>A (p.Ser588=) rs542783532 0.00006
NM_000321.3(RB1):c.2360G>A (p.Arg787Gln) rs748094394 0.00006
NM_000321.3(RB1):c.285A>G (p.Lys95=) rs755688480 0.00006
NM_000321.3(RB1):c.446C>T (p.Ser149Leu) rs587778870 0.00006
NM_000321.3(RB1):c.180A>G (p.Leu60=) rs878853948 0.00005
NM_000321.3(RB1):c.2003G>A (p.Arg668His) rs551747882 0.00005
NM_000321.3(RB1):c.2652A>C (p.Glu884Asp) rs765537411 0.00005
NM_000321.3(RB1):c.840A>G (p.Glu280=) rs762092062 0.00005
NM_000321.3(RB1):c.106G>A (p.Asp36Asn) rs745822791 0.00004
NM_000321.3(RB1):c.1335A>T (p.Arg445=) rs757748029 0.00004
NM_000321.3(RB1):c.1573G>A (p.Ala525Thr) rs587778640 0.00004
NM_000321.3(RB1):c.1619G>T (p.Gly540Val) rs769696726 0.00004
NM_000321.3(RB1):c.16C>T (p.Pro6Ser) rs886043138 0.00004
NM_000321.3(RB1):c.173C>T (p.Thr58Ile) rs138574644 0.00004
NM_000321.3(RB1):c.1887G>C (p.Glu629Asp) rs367668687 0.00004
NM_000321.3(RB1):c.2221C>T (p.Arg741Cys) rs529366765 0.00004
NM_000321.3(RB1):c.2754T>C (p.Asp918=) rs878853951 0.00004
NM_000321.3(RB1):c.2759T>C (p.Met920Thr) rs148501460 0.00004
NM_000321.3(RB1):c.462G>A (p.Lys154=) rs369830657 0.00004
NM_000321.3(RB1):c.731T>C (p.Ile244Thr) rs147754935 0.00004
NM_000321.3(RB1):c.941T>A (p.Val314Asp) rs780006952 0.00004
NM_000321.3(RB1):c.109A>G (p.Ser37Gly) rs896487590 0.00003
NM_000321.3(RB1):c.1215C>T (p.Asn405=) rs758187955 0.00003
NM_000321.3(RB1):c.1216-4A>G rs763895695 0.00003
NM_000321.3(RB1):c.1814+3A>G rs376886420 0.00003
NM_000321.3(RB1):c.1859C>T (p.Thr620Met) rs554834063 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.2397T>G (p.Ile799Met) rs749392116 0.00003
NM_000321.3(RB1):c.2626C>T (p.Arg876Cys) rs143105337 0.00003
NM_000321.3(RB1):c.2679A>G (p.Gly893=) rs751718011 0.00003
NM_000321.3(RB1):c.30C>G (p.Ala10=) rs530961288 0.00003
NM_000321.3(RB1):c.80C>G (p.Pro27Arg) rs925399787 0.00003
NM_000321.3(RB1):c.-1C>T rs754354560 0.00002
NM_000321.3(RB1):c.1083C>A (p.Asn361Lys) rs976503237 0.00002
NM_000321.3(RB1):c.1240A>C (p.Ser414Arg) rs974956317 0.00002
NM_000321.3(RB1):c.1318G>A (p.Glu440Lys) rs1060503078 0.00002
NM_000321.3(RB1):c.1464G>A (p.Ala488=) rs753520981 0.00002
NM_000321.3(RB1):c.1898C>T (p.Thr633Ile) rs587778641 0.00002
NM_000321.3(RB1):c.1981C>T (p.Arg661Trp) rs137853294 0.00002
NM_000321.3(RB1):c.2222G>A (p.Arg741His) rs764520289 0.00002
NM_000321.3(RB1):c.2273C>T (p.Ser758Leu) rs754814477 0.00002
NM_000321.3(RB1):c.2370C>T (p.Tyr790=) rs794727372 0.00002
NM_000321.3(RB1):c.2489+3G>T rs1057505320 0.00002
NM_000321.3(RB1):c.2491A>G (p.Ile831Val) rs761068783 0.00002
NM_000321.3(RB1):c.2518G>A (p.Gly840Arg) rs374157786 0.00002
NM_000321.3(RB1):c.2670T>C (p.His890=) rs758547395 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.354T>A (p.Thr118=) rs951251256 0.00002
NM_000321.3(RB1):c.761G>A (p.Arg254Lys) rs200674097 0.00002
NM_000321.3(RB1):c.850A>G (p.Asn284Asp) rs761609284 0.00002
NM_000321.3(RB1):c.897T>A (p.Phe299Leu) rs772362181 0.00002
NM_000321.3(RB1):c.1024A>T (p.Thr342Ser) rs751263356 0.00001
NM_000321.3(RB1):c.104A>T (p.Gln35Leu) rs1480581747 0.00001
NM_000321.3(RB1):c.1073G>A (p.Arg358Gln) rs767011440 0.00001
NM_000321.3(RB1):c.1095G>C (p.Glu365Asp) rs750094760 0.00001
NM_000321.3(RB1):c.1128-5del rs886038280 0.00001
NM_000321.3(RB1):c.1128G>C (p.Arg376Ser) rs908738769 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.1163T>G (p.Ile388Ser) rs373623059 0.00001
NM_000321.3(RB1):c.116C>T (p.Pro39Leu) rs1180053508 0.00001
NM_000321.3(RB1):c.1174G>A (p.Ala392Thr) rs181988132 0.00001
NM_000321.3(RB1):c.1180G>A (p.Asp394Asn) rs753350745 0.00001
NM_000321.3(RB1):c.1198C>G (p.Leu400Val) rs535576919 0.00001
NM_000321.3(RB1):c.1206C>T (p.Ser402=) rs752679968 0.00001
NM_000321.3(RB1):c.1215+3A>G rs1254191370 0.00001
NM_000321.3(RB1):c.1223C>T (p.Thr408Ile) rs1462238834 0.00001
NM_000321.3(RB1):c.1243A>C (p.Ile415Leu) rs1346693507 0.00001
NM_000321.3(RB1):c.124C>T (p.Leu42=) rs1312883856 0.00001
NM_000321.3(RB1):c.1268G>A (p.Gly423Glu) rs748635133 0.00001
NM_000321.3(RB1):c.1317C>T (p.Val439=) rs1952832303 0.00001
NM_000321.3(RB1):c.1323T>C (p.Ile441=) rs1952832419 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.1363C>T (p.Arg455Ter) rs121913302 0.00001
NM_000321.3(RB1):c.1364G>A (p.Arg455Gln) rs769425649 0.00001
NM_000321.3(RB1):c.1378A>G (p.Met460Val) rs1258210045 0.00001
NM_000321.3(RB1):c.138-4G>A rs1010049143 0.00001
NM_000321.3(RB1):c.1389A>G (p.Ser463=) rs1486168292 0.00001
NM_000321.3(RB1):c.1399C>A (p.Arg467=) rs398123331 0.00001
NM_000321.3(RB1):c.1406C>T (p.Ser469Phe) rs1243796201 0.00001
NM_000321.3(RB1):c.144G>A (p.Glu48=) rs1021965284 0.00001
NM_000321.3(RB1):c.1451T>C (p.Met484Thr) rs1948522862 0.00001
NM_000321.3(RB1):c.1459T>C (p.Leu487=) rs1269949158 0.00001
NM_000321.3(RB1):c.1463C>T (p.Ala488Val) rs780248969 0.00001
NM_000321.3(RB1):c.1486G>T (p.Ala496Ser) rs1366675428 0.00001
NM_000321.3(RB1):c.148G>C (p.Glu50Gln) rs1060503085 0.00001
NM_000321.3(RB1):c.1494T>C (p.Tyr498=) rs768929728 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.1542C>T (p.Phe514=) rs1436921535 0.00001
NM_000321.3(RB1):c.1545A>G (p.Pro515=) rs1486158291 0.00001
NM_000321.3(RB1):c.155C>T (p.Thr52Ile) rs780588550 0.00001
NM_000321.3(RB1):c.1596C>T (p.Ile532=) rs770728170 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.1648T>C (p.Leu550=) rs1280754489 0.00001
NM_000321.3(RB1):c.1655G>A (p.Arg552Gln) rs146236493 0.00001
NM_000321.3(RB1):c.165T>A (p.Pro55=) rs775560197 0.00001
NM_000321.3(RB1):c.1667G>A (p.Arg556Gln) rs773116120 0.00001
NM_000321.3(RB1):c.1681C>T (p.Leu561Phe) rs761257231 0.00001
NM_000321.3(RB1):c.1696-4A>G rs143685082 0.00001
NM_000321.3(RB1):c.1736G>A (p.Arg579Gln) rs751560923 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.1755C>T (p.His585=) rs750305249 0.00001
NM_000321.3(RB1):c.1778A>G (p.Asn593Ser) rs138033832 0.00001
NM_000321.3(RB1):c.177A>T (p.Ala59=) rs189574280 0.00001
NM_000321.3(RB1):c.1815-5T>C rs770160524 0.00001
NM_000321.3(RB1):c.1815G>A (p.Met605Ile) rs1472724809 0.00001
NM_000321.3(RB1):c.1860G>A (p.Thr620=) rs750356534 0.00001
NM_000321.3(RB1):c.1876G>A (p.Ala626Thr) rs747147942 0.00001
NM_000321.3(RB1):c.1944A>G (p.Ser648=) rs762529301 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.1992A>T (p.Thr664=) rs755417160 0.00001
NM_000321.3(RB1):c.1997G>T (p.Cys666Phe) rs1160394123 0.00001
NM_000321.3(RB1):c.2002C>T (p.Arg668Cys) rs369755801 0.00001
NM_000321.3(RB1):c.201A>C (p.Pro67=) rs1268550381 0.00001
NM_000321.3(RB1):c.2038A>G (p.Ile680Val) rs1422900655 0.00001
NM_000321.3(RB1):c.2049T>C (p.Leu683=) rs1048847950 0.00001
NM_000321.3(RB1):c.2066A>G (p.Gln689Arg) rs1447082021 0.00001
NM_000321.3(RB1):c.2076T>C (p.Tyr692=) rs1060504827 0.00001
NM_000321.3(RB1):c.2078A>G (p.Glu693Gly) rs775195256 0.00001
NM_000321.3(RB1):c.2091C>G (p.Asp697Glu) rs3092903 0.00001
NM_000321.3(RB1):c.20G>A (p.Arg7Gln) rs564059250 0.00001
NM_000321.3(RB1):c.2127T>C (p.Tyr709=) rs1484231598 0.00001
NM_000321.3(RB1):c.215A>G (p.Glu72Gly) rs753307498 0.00001
NM_000321.3(RB1):c.2175A>G (p.Val725=) rs1339244165 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.2259A>C (p.Ile753=) rs1387030828 0.00001
NM_000321.3(RB1):c.2274G>A (p.Ser758=) rs558114005 0.00001
NM_000321.3(RB1):c.2277C>T (p.Val759=) rs1949430859 0.00001
NM_000321.3(RB1):c.2289A>T (p.Arg763Ser) rs1167280920 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.2349T>A (p.Pro783=) rs753349760 0.00001
NM_000321.3(RB1):c.2356C>T (p.Pro786Ser) rs754507551 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.2393G>A (p.Arg798Gln) rs374523971 0.00001
NM_000321.3(RB1):c.2436A>G (p.Pro812=) rs1276641790 0.00001
NM_000321.3(RB1):c.2517C>T (p.Phe839=) rs759188465 0.00001
NM_000321.3(RB1):c.2557T>C (p.Cys853Arg) rs1295589257 0.00001
NM_000321.3(RB1):c.2559T>C (p.Cys853=) rs148327780 0.00001
NM_000321.3(RB1):c.2568C>A (p.Asp856Glu) rs1566240957 0.00001
NM_000321.3(RB1):c.2569C>G (p.Arg857Gly) rs1032510984 0.00001
NM_000321.3(RB1):c.2602C>A (p.Pro868Thr) rs1161450606 0.00001
NM_000321.3(RB1):c.2607T>G (p.Pro869=) rs762588468 0.00001
NM_000321.3(RB1):c.2614C>T (p.Leu872=) rs763673051 0.00001
NM_000321.3(RB1):c.2620A>C (p.Lys874Gln) rs757818801 0.00001
NM_000321.3(RB1):c.2625A>G (p.Leu875=) rs774463152 0.00001
NM_000321.3(RB1):c.2634T>C (p.Asp878=) rs750293921 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.265-6_265-4del rs780733860 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.269G>T (p.Gly90Val) rs554727080 0.00001
NM_000321.3(RB1):c.2726C>A (p.Thr909Lys) rs761999108 0.00001
NM_000321.3(RB1):c.272A>G (p.Tyr91Cys) rs750850735 0.00001
NM_000321.3(RB1):c.273T>C (p.Tyr91=) rs750136284 0.00001
NM_000321.3(RB1):c.2774A>G (p.Lys925Arg) rs750946437 0.00001
NM_000321.3(RB1):c.2775G>A (p.Lys925=) rs936709957 0.00001
NM_000321.3(RB1):c.341C>T (p.Ser114Leu) rs139673557 0.00001
NM_000321.3(RB1):c.342G>A (p.Ser114=) rs748093967 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.395T>A (p.Phe132Tyr) rs762380973 0.00001
NM_000321.3(RB1):c.399C>T (p.Asn133=) rs765277265 0.00001
NM_000321.3(RB1):c.424A>G (p.Thr142Ala) rs1307149332 0.00001
NM_000321.3(RB1):c.501-3C>T rs773662417 0.00001
NM_000321.3(RB1):c.506G>A (p.Cys169Tyr) rs1251503080 0.00001
NM_000321.3(RB1):c.536G>T (p.Ser179Ile) rs1566187849 0.00001
NM_000321.3(RB1):c.539C>T (p.Ser180Leu) rs367654488 0.00001
NM_000321.3(RB1):c.540-3T>C rs149703672 0.00001
NM_000321.3(RB1):c.547A>G (p.Thr183Ala) rs1593437952 0.00001
NM_000321.3(RB1):c.549T>C (p.Thr183=) rs147793910 0.00001
NM_000321.3(RB1):c.560C>T (p.Ser187Phe) rs770277291 0.00001
NM_000321.3(RB1):c.571C>T (p.Leu191=) rs538578527 0.00001
NM_000321.3(RB1):c.60C>T (p.Pro20=) rs777340111 0.00001
NM_000321.3(RB1):c.613G>A (p.Val205Ile) rs770100636 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.643T>C (p.Ser215Pro) rs748923368 0.00001
NM_000321.3(RB1):c.658C>T (p.Leu220=) rs367960214 0.00001
NM_000321.3(RB1):c.685C>T (p.Leu229Phe) rs766131342 0.00001
NM_000321.3(RB1):c.694C>T (p.Pro232Ser) rs1195873978 0.00001
NM_000321.3(RB1):c.697A>G (p.Met233Val) rs770860809 0.00001
NM_000321.3(RB1):c.6G>T (p.Pro2=) rs1593411898 0.00001
NM_000321.3(RB1):c.752G>A (p.Arg251Gln) rs772678500 0.00001
NM_000321.3(RB1):c.782C>T (p.Ala261Val) rs776307088 0.00001
NM_000321.3(RB1):c.784C>T (p.Arg262Trp) rs556201144 0.00001
NM_000321.3(RB1):c.785G>A (p.Arg262Gln) rs752342013 0.00001
NM_000321.3(RB1):c.78G>C (p.Pro26=) rs1389899415 0.00001
NM_000321.3(RB1):c.813A>G (p.Thr271=) rs1264516748 0.00001
NM_000321.3(RB1):c.83C>G (p.Pro28Arg) rs776175164 0.00001
NM_000321.3(RB1):c.852T>C (p.Asn284=) rs1952657073 0.00001
NM_000321.3(RB1):c.86C>T (p.Pro29Leu) rs938094455 0.00001
NM_000321.3(RB1):c.891A>G (p.Ile297Met) rs1952680086 0.00001
NM_000321.3(RB1):c.898A>C (p.Met300Leu) rs1060503086 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.958C>G (p.Arg320Gly) rs121913300 0.00001
NM_000321.3(RB1):c.963C>T (p.Tyr321=) rs377235036 0.00001
NM_000321.3(RB1):c.965A>G (p.Glu322Gly) rs142620145 0.00001
NM_000321.3(RB1):c.999A>C (p.Ala333=) rs1254874409 0.00001
NM_000321.2(RB1):c.-198G>A rs387906521
NM_000321.2(RB1):c.19_21delinsGG (p.Arg7fs) rs1131690845
NM_000321.2(RB1):c.382_383dupGT
NM_000321.3(RB1):c.-2T>A
NM_000321.3(RB1):c.-2T>C
NM_000321.3(RB1):c.-2T>G rs1466986201
NM_000321.3(RB1):c.1001G>A (p.Arg334Lys)
NM_000321.3(RB1):c.1006T>C (p.Phe336Leu)
NM_000321.3(RB1):c.1007T>G (p.Phe336Cys)
NM_000321.3(RB1):c.1011G>A (p.Leu337=)
NM_000321.3(RB1):c.1012G>A (p.Asp338Asn)
NM_000321.3(RB1):c.1022A>G (p.Lys341Arg) rs1393042716
NM_000321.3(RB1):c.1024del (p.Thr342fs) rs587778844
NM_000321.3(RB1):c.1025C>T (p.Thr342Ile)
NM_000321.3(RB1):c.1027del (p.Leu343fs) rs1131690873
NM_000321.3(RB1):c.1030C>A (p.Gln344Lys)
NM_000321.3(RB1):c.1030C>T (p.Gln344Ter)
NM_000321.3(RB1):c.1033A>T (p.Thr345Ser)
NM_000321.3(RB1):c.1037A>C (p.Asp346Ala) rs1566194403
NM_000321.3(RB1):c.1037A>G (p.Asp346Gly)
NM_000321.3(RB1):c.1043T>C (p.Ile348Thr) rs1295421967
NM_000321.3(RB1):c.1047_1049+168delinsATCAATAA
NM_000321.3(RB1):c.1049+1G>A rs587776782
NM_000321.3(RB1):c.1049+1G>T rs587776782
NM_000321.3(RB1):c.1049+5T>C
NM_000321.3(RB1):c.1049G>A (p.Ser350Asn)
NM_000321.3(RB1):c.1050-5T>C
NM_000321.3(RB1):c.105G>A (p.Gln35=)
NM_000321.3(RB1):c.1060_1061del (p.Gln354fs) rs587778829
NM_000321.3(RB1):c.1061A>C (p.Gln354Pro)
NM_000321.3(RB1):c.1064_1065del (p.Arg355fs) rs1131690861
NM_000321.3(RB1):c.1065A>T (p.Arg355Ser)
NM_000321.3(RB1):c.1066A>C (p.Thr356Pro) rs2138123180
NM_000321.3(RB1):c.1067CAC[1] (p.Pro357del)
NM_000321.3(RB1):c.1069C>A (p.Pro357Thr)
NM_000321.3(RB1):c.106del (p.Asp36fs) rs1131690913
NM_000321.3(RB1):c.1072C>T (p.Arg358Ter) rs121913301
NM_000321.3(RB1):c.1072_1074delinsGG (p.Arg358fs) rs1131690872
NM_000321.3(RB1):c.1073G>T (p.Arg358Leu)
NM_000321.3(RB1):c.1078A>T (p.Ser360Cys) rs1593449010
NM_000321.3(RB1):c.1082A>C (p.Asn361Thr)
NM_000321.3(RB1):c.1083C>T (p.Asn361=) rs976503237
NM_000321.3(RB1):c.1084C>T (p.Leu362Phe) rs1952727001
NM_000321.3(RB1):c.1086T>G (p.Leu362=) rs1212481028
NM_000321.3(RB1):c.1093G>C (p.Glu365Gln) rs1270702085
NM_000321.3(RB1):c.109A>C (p.Ser37Arg) rs896487590
NM_000321.3(RB1):c.1105del (p.Ile369fs)
NM_000321.3(RB1):c.1108C>T (p.Pro370Ser) rs1168863456
NM_000321.3(RB1):c.1110T>C (p.Pro370=)
NM_000321.3(RB1):c.1113A>G (p.Pro371=) rs2138123437
NM_000321.3(RB1):c.1115A>G (p.His372Arg)
NM_000321.3(RB1):c.1116C>T (p.His372=)
NM_000321.3(RB1):c.111C>T (p.Ser37=) rs1411090163
NM_000321.3(RB1):c.1123G>C (p.Val375Leu) rs1952727557
NM_000321.3(RB1):c.1128-2A>G rs1131690892
NM_000321.3(RB1):c.112G>A (p.Gly38Ser)
NM_000321.3(RB1):c.1131T>C (p.Thr377=) rs1414284893
NM_000321.3(RB1):c.1135A>G (p.Met379Val)
NM_000321.3(RB1):c.1138A>G (p.Asn380Asp)
NM_000321.3(RB1):c.1142C>T (p.Thr381Ile)
NM_000321.3(RB1):c.1147C>T (p.Gln383Ter) rs1131690846
NM_000321.3(RB1):c.114C>T (p.Gly38=) rs1369823342
NM_000321.3(RB1):c.1152A>G (p.Gln384=)
NM_000321.3(RB1):c.1158G>T (p.Met386Ile)
NM_000321.3(RB1):c.1158del (p.Met386fs)
NM_000321.3(RB1):c.1159A>G (p.Met387Val) rs190689977
NM_000321.3(RB1):c.1159A>T (p.Met387Leu) rs190689977
NM_000321.3(RB1):c.1162A>T (p.Ile388Phe)
NM_000321.3(RB1):c.1167A>C (p.Leu389Phe) rs1952784310
NM_000321.3(RB1):c.1168A>C (p.Asn390His)
NM_000321.3(RB1):c.1177A>G (p.Ser393Gly)
NM_000321.3(RB1):c.1181A>G (p.Asp394Gly)
NM_000321.3(RB1):c.1181A>T (p.Asp394Val)
NM_000321.3(RB1):c.1189T>G (p.Ser397Ala)
NM_000321.3(RB1):c.118G>A (p.Glu40Lys) rs1593412262
NM_000321.3(RB1):c.118del (p.Glu40fs) rs1593412261
NM_000321.3(RB1):c.1191A>G (p.Ser397=)
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.1206C>A (p.Ser402=) rs752679968
NM_000321.3(RB1):c.1206C>G (p.Ser402=) rs752679968
NM_000321.3(RB1):c.1207T>C (p.Tyr403His)
NM_000321.3(RB1):c.1208A>G (p.Tyr403Cys)
NM_000321.3(RB1):c.120G>T (p.Glu40Asp)
NM_000321.3(RB1):c.1215+1G>A rs587776783
NM_000321.3(RB1):c.1215+1G>C
NM_000321.3(RB1):c.1215+2T>G rs1060503074
NM_000321.3(RB1):c.1216-28_1216-3del
NM_000321.3(RB1):c.1216-4A>T
NM_000321.3(RB1):c.1218C>T (p.Asn406=) rs1593453983
NM_000321.3(RB1):c.121G>T (p.Asp41Tyr) rs775161380
NM_000321.3(RB1):c.1220G>A (p.Cys407Tyr)
NM_000321.3(RB1):c.1221C>T (p.Cys407=) rs756329704
NM_000321.3(RB1):c.1223C>G (p.Thr408Arg)
NM_000321.3(RB1):c.1224A>C (p.Thr408=) rs371805499
NM_000321.3(RB1):c.1224A>G (p.Thr408=) rs371805499
NM_000321.3(RB1):c.1225G>A (p.Val409Met) rs1952830946
NM_000321.3(RB1):c.1229A>C (p.Asn410Thr) rs1952831003
NM_000321.3(RB1):c.1229del (p.Asn410fs) rs1131690897
NM_000321.3(RB1):c.1233A>G (p.Pro411=) rs754078025
NM_000321.3(RB1):c.1238A>G (p.Glu413Gly)
NM_000321.3(RB1):c.1246C>A (p.Leu416Met)
NM_000321.3(RB1):c.124C>A (p.Leu42Met) rs1312883856
NM_000321.3(RB1):c.1251_1252del (p.Arg418fs) rs1131690889
NM_000321.3(RB1):c.1253G>A (p.Arg418Lys) rs1952831579
NM_000321.3(RB1):c.1257G>T (p.Val419=)
NM_000321.3(RB1):c.1258A>G (p.Lys420Glu)
NM_000321.3(RB1):c.1275C>G (p.Ile425Met)
NM_000321.3(RB1):c.1275C>T (p.Ile425=)
NM_000321.3(RB1):c.1280A>G (p.Lys427Arg)
NM_000321.3(RB1):c.1282G>C (p.Glu428Gln)
NM_000321.3(RB1):c.1284G>A (p.Glu428=) rs2138136532
NM_000321.3(RB1):c.1284G>T (p.Glu428Asp)
NM_000321.3(RB1):c.128C>G (p.Pro43Arg) rs1555279239
NM_000321.3(RB1):c.128C>T (p.Pro43Leu)
NM_000321.3(RB1):c.128dup (p.Leu44fs)
NM_000321.3(RB1):c.1297G>A (p.Ala433Thr) rs1166566395
NM_000321.3(RB1):c.129T>A (p.Pro43=) rs1304775415
NM_000321.3(RB1):c.1309G>T (p.Gly437Cys)
NM_000321.3(RB1):c.130C>A (p.Leu44Ile) rs1345893304
NM_000321.3(RB1):c.1310G>A (p.Gly437Asp)
NM_000321.3(RB1):c.1310G>C (p.Gly437Ala)
NM_000321.3(RB1):c.1311T>C (p.Gly437=) rs759207520
NM_000321.3(RB1):c.1313G>A (p.Cys438Tyr) rs1952832267
NM_000321.3(RB1):c.1321dup (p.Ile441fs) rs1131690875
NM_000321.3(RB1):c.1326A>T (p.Gly442=)
NM_000321.3(RB1):c.1328C>A (p.Ser443Ter) rs1060503079
NM_000321.3(RB1):c.1333-1G>A rs2138140730
NM_000321.3(RB1):c.1333C>T (p.Arg445Ter) rs3092891
NM_000321.3(RB1):c.1336T>A (p.Tyr446Asn)
NM_000321.3(RB1):c.1337A>G (p.Tyr446Cys)
NM_000321.3(RB1):c.1338C>A (p.Tyr446Ter) rs1593455621
NM_000321.3(RB1):c.133G>C (p.Val45Leu)
NM_000321.3(RB1):c.1343T>A (p.Leu448His)
NM_000321.3(RB1):c.1345G>A (p.Gly449Arg) rs1131690851
NM_000321.3(RB1):c.1352G>A (p.Arg451His) rs1312442837
NM_000321.3(RB1):c.1353C>T (p.Arg451=) rs912889209
NM_000321.3(RB1):c.1355T>G (p.Leu452Trp) rs2138140900
NM_000321.3(RB1):c.1356G>A (p.Leu452=) rs201285819
NM_000321.3(RB1):c.1356G>T (p.Leu452Phe) rs201285819
NM_000321.3(RB1):c.1362C>G (p.Tyr454Ter)
NM_000321.3(RB1):c.1364G>C (p.Arg455Pro) rs769425649
NM_000321.3(RB1):c.1364G>T (p.Arg455Leu)
NM_000321.3(RB1):c.1365A>G (p.Arg455=) rs1316896547
NM_000321.3(RB1):c.1365A>T (p.Arg455=)
NM_000321.3(RB1):c.137+1G>T rs1131690855
NM_000321.3(RB1):c.1371G>A (p.Met457Ile) rs1948514269
NM_000321.3(RB1):c.1372G>T (p.Glu458Ter) rs1131690884
NM_000321.3(RB1):c.1374A>C (p.Glu458Asp)
NM_000321.3(RB1):c.1376C>T (p.Ser459Phe) rs1593455667
NM_000321.3(RB1):c.137G>A (p.Arg46Lys)
NM_000321.3(RB1):c.138-1G>A rs1593414337
NM_000321.3(RB1):c.1389+1G>A
NM_000321.3(RB1):c.1389+4A>C rs1131690879
NM_000321.3(RB1):c.1389+5G>A rs1131690859
NM_000321.3(RB1):c.1390-4T>C
NM_000321.3(RB1):c.1390_1392GAA[2] (p.Glu466del) rs1948519753
NM_000321.3(RB1):c.1398A>G (p.Glu466=)
NM_000321.3(RB1):c.1399C>T (p.Arg467Ter) rs398123331
NM_000321.3(RB1):c.139C>T (p.Leu47Phe) rs1952088853
NM_000321.3(RB1):c.13A>G (p.Thr5Ala) rs898303682
NM_000321.3(RB1):c.13A>T (p.Thr5Ser)
NM_000321.3(RB1):c.1400G>T (p.Arg467Leu)
NM_000321.3(RB1):c.1401A>T (p.Arg467=)
NM_000321.3(RB1):c.1403T>G (p.Leu468Ter)
NM_000321.3(RB1):c.1404A>G (p.Leu468=)
NM_000321.3(RB1):c.1404A>T (p.Leu468Phe) rs2138142265
NM_000321.3(RB1):c.1406C>A (p.Ser469Tyr) rs1243796201
NM_000321.3(RB1):c.1409T>G (p.Ile470Ser)
NM_000321.3(RB1):c.140T>C (p.Leu47Pro)
NM_000321.3(RB1):c.1410T>C (p.Ile470=) rs578226820
NM_000321.3(RB1):c.1410T>G (p.Ile470Met) rs578226820
NM_000321.3(RB1):c.1412A>G (p.Gln471Arg) rs1948520103
NM_000321.3(RB1):c.1412A>T (p.Gln471Leu)
NM_000321.3(RB1):c.1420A>T (p.Ser474Cys)
NM_000321.3(RB1):c.1421+1G>C rs1131690886
NM_000321.3(RB1):c.1421+1del rs1555286576
NM_000321.3(RB1):c.1421+5A>G
NM_000321.3(RB1):c.1421G>T (p.Ser474Ile) rs1555286575
NM_000321.3(RB1):c.1422-1G>T
NM_000321.3(RB1):c.1422-4T>G rs201554179
NM_000321.3(RB1):c.1424A>C (p.Lys475Thr) rs1593456261
NM_000321.3(RB1):c.1428T>C (p.Leu476=)
NM_000321.3(RB1):c.1429C>T (p.Leu477=)
NM_000321.3(RB1):c.1436ACA[1] (p.Asn480del) rs587776788
NM_000321.3(RB1):c.143A>G (p.Glu48Gly) rs2138033826
NM_000321.3(RB1):c.1447del (p.His483fs) rs1131690910
NM_000321.3(RB1):c.1450_1451del (p.Met484fs) rs1948522792
NM_000321.3(RB1):c.1450_1459del (p.Met484fs)
NM_000321.3(RB1):c.1452G>A (p.Met484Ile)
NM_000321.3(RB1):c.1453T>A (p.Ser485Thr)
NM_000321.3(RB1):c.1455T>C (p.Ser485=)
NM_000321.3(RB1):c.1462G>A (p.Ala488Thr)
NM_000321.3(RB1):c.1464G>T (p.Ala488=)
NM_000321.3(RB1):c.1465T>G (p.Cys489Gly) rs1948523129
NM_000321.3(RB1):c.1466G>A (p.Cys489Tyr) rs1131690877
NM_000321.3(RB1):c.1468G>A (p.Ala490Thr) rs201458896
NM_000321.3(RB1):c.1468G>T (p.Ala490Ser) rs201458896
NM_000321.3(RB1):c.1470T>C (p.Ala490=)
NM_000321.3(RB1):c.1470T>G (p.Ala490=) rs1213010309
NM_000321.3(RB1):c.1471C>T (p.Leu491Phe)
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.1482A>G (p.Val494=)
NM_000321.3(RB1):c.1486G>C (p.Ala496Pro)
NM_000321.3(RB1):c.1492T>A (p.Tyr498Asn)
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)
NM_000321.3(RB1):c.1498+1G>A rs1131690909
NM_000321.3(RB1):c.1498+2T>C
NM_000321.3(RB1):c.1498+2T>G rs1948523741
NM_000321.3(RB1):c.1498A>C (p.Arg500=) rs1593456364
NM_000321.3(RB1):c.1502_1514del (p.Ser501fs) rs1131690856
NM_000321.3(RB1):c.1503T>C (p.Ser501=) rs2138144821
NM_000321.3(RB1):c.1514A>C (p.Asn505Thr) rs1948533141
NM_000321.3(RB1):c.1517T>C (p.Leu506Pro)
NM_000321.3(RB1):c.1519G>A (p.Asp507Asn)
NM_000321.3(RB1):c.1519G>C (p.Asp507His) rs2138144909
NM_000321.3(RB1):c.1522T>G (p.Ser508Ala)
NM_000321.3(RB1):c.1523C>T (p.Ser508Phe) rs1204086259
NM_000321.3(RB1):c.1527A>G (p.Gly509=) rs1948533245
NM_000321.3(RB1):c.1529C>A (p.Thr510Lys)
NM_000321.3(RB1):c.1531G>C (p.Asp511His) rs145729675
NM_000321.3(RB1):c.1531del (p.Asp511fs)
NM_000321.3(RB1):c.1532A>G (p.Asp511Gly) rs1948533324
NM_000321.3(RB1):c.1536G>A (p.Leu512=) rs879124999
NM_000321.3(RB1):c.153A>C (p.Glu51Asp) rs756860689
NM_000321.3(RB1):c.1543C>T (p.Pro515Ser) rs866664638
NM_000321.3(RB1):c.154A>G (p.Thr52Ala)
NM_000321.3(RB1):c.1550T>A (p.Ile517Asn)
NM_000321.3(RB1):c.1558G>C (p.Val520Leu)
NM_000321.3(RB1):c.156A>G (p.Thr52=)
NM_000321.3(RB1):c.1574C>A (p.Ala525Asp) rs4151539
NM_000321.3(RB1):c.1575del (p.Phe526fs) rs1131690876
NM_000321.3(RB1):c.1576T>C (p.Phe526Leu)
NM_000321.3(RB1):c.157G>C (p.Glu53Gln)
NM_000321.3(RB1):c.1584T>C (p.Phe528=) rs2138145241
NM_000321.3(RB1):c.1590del (p.Lys530_Val531insTer)
NM_000321.3(RB1):c.1592T>C (p.Val531Ala)
NM_000321.3(RB1):c.1592T>G (p.Val531Gly)
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.159A>G (p.Glu53=)
NM_000321.3(RB1):c.15C>A (p.Thr5=) rs1593411934
NM_000321.3(RB1):c.15C>T (p.Thr5=)
NM_000321.3(RB1):c.1608C>A (p.Ile536=)
NM_000321.3(RB1):c.1613C>T (p.Ala538Val)
NM_000321.3(RB1):c.1619G>A (p.Gly540Asp)
NM_000321.3(RB1):c.1625T>A (p.Leu542Ter) rs1593457065
NM_000321.3(RB1):c.1633G>T (p.Glu545Ter) rs1948534542
NM_000321.3(RB1):c.1635A>G (p.Glu545=)
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>T (p.Pro55Leu)
NM_000321.3(RB1):c.164del (p.Pro55fs)
NM_000321.3(RB1):c.1651G>A (p.Glu551Lys) rs147534828
NM_000321.3(RB1):c.1654C>T (p.Arg552Ter) rs121913303
NM_000321.3(RB1):c.1655G>T (p.Arg552Leu)
NM_000321.3(RB1):c.1661A>G (p.Glu554Gly)
NM_000321.3(RB1):c.1664A>G (p.His555Arg) rs1555286700
NM_000321.3(RB1):c.1666C>T (p.Arg556Ter) rs121913304
NM_000321.3(RB1):c.1673T>C (p.Met558Thr)
NM_000321.3(RB1):c.1675G>C (p.Glu559Gln) rs1131690869
NM_000321.3(RB1):c.1678T>A (p.Ser560Thr)
NM_000321.3(RB1):c.1684G>T (p.Ala562Ser)
NM_000321.3(RB1):c.1686A>C (p.Ala562=)
NM_000321.3(RB1):c.1686A>G (p.Ala562=)
NM_000321.3(RB1):c.1690C>G (p.Leu564Val)
NM_000321.3(RB1):c.1692C>G (p.Leu564=)
NM_000321.3(RB1):c.1692C>T (p.Leu564=) rs1593457168
NM_000321.3(RB1):c.1695+3A>C rs1131690870
NM_000321.3(RB1):c.1696-2A>G rs1593529868
NM_000321.3(RB1):c.1698T>G (p.Asp566Glu)
NM_000321.3(RB1):c.1702C>T (p.Pro568Ser)
NM_000321.3(RB1):c.1703C>T (p.Pro568Leu)
NM_000321.3(RB1):c.1704T>C (p.Pro568=)
NM_000321.3(RB1):c.1704T>G (p.Pro568=) rs1555293625
NM_000321.3(RB1):c.1706del (p.Leu569fs) rs1131690842
NM_000321.3(RB1):c.1709T>C (p.Phe570Ser) rs2138327013
NM_000321.3(RB1):c.1712A>T (p.Asp571Val)
NM_000321.3(RB1):c.1713T>C (p.Asp571=) rs1286122592
NM_000321.3(RB1):c.1718T>C (p.Ile573Thr)
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.1726_1729del (p.Ser576fs)
NM_000321.3(RB1):c.172A>G (p.Thr58Ala) rs1593414365
NM_000321.3(RB1):c.1731G>A (p.Lys577=) rs1949337837
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)
NM_000321.3(RB1):c.1735C>A (p.Arg579=)
NM_000321.3(RB1):c.1735C>T (p.Arg579Ter) rs121913305
NM_000321.3(RB1):c.1739A>G (p.Glu580Gly)
NM_000321.3(RB1):c.173C>G (p.Thr58Ser)
NM_000321.3(RB1):c.1745C>A (p.Pro582Gln)
NM_000321.3(RB1):c.1749T>G (p.Thr583=) rs913654931
NM_000321.3(RB1):c.174T>A (p.Thr58=)
NM_000321.3(RB1):c.174T>C (p.Thr58=)
NM_000321.3(RB1):c.1751A>T (p.Asp584Val)
NM_000321.3(RB1):c.1753C>T (p.His585Tyr) rs1401332173
NM_000321.3(RB1):c.1757T>C (p.Leu586Pro)
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.1766C>G (p.Ala589Gly) rs779045727
NM_000321.3(RB1):c.1766C>T (p.Ala589Val) rs779045727
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.1775T>C (p.Leu592Pro)
NM_000321.3(RB1):c.177A>G (p.Ala59=)
NM_000321.3(RB1):c.1785T>C (p.Pro595=) rs1194487890
NM_000321.3(RB1):c.1786C>G (p.Leu596Val)
NM_000321.3(RB1):c.1796A>G (p.Asn599Ser)
NM_000321.3(RB1):c.17C>T (p.Pro6Leu)
NM_000321.3(RB1):c.1800C>T (p.His600=) rs1555293650
NM_000321.3(RB1):c.1802C>G (p.Thr601Ser) rs910909092
NM_000321.3(RB1):c.1802C>T (p.Thr601Ile)
NM_000321.3(RB1):c.1805C>A (p.Ala602Glu)
NM_000321.3(RB1):c.1810G>A (p.Asp604Asn) rs2138327415
NM_000321.3(RB1):c.1811del (p.Asp604fs) rs1131690893
NM_000321.3(RB1):c.1814+1G>A
NM_000321.3(RB1):c.1814+2T>G rs1131690899
NM_000321.3(RB1):c.1814+4A>G rs1131690898
NM_000321.3(RB1):c.1814T>C (p.Met605Thr) rs1555293654
NM_000321.3(RB1):c.1815-4C>T rs1593531868
NM_000321.3(RB1):c.1817A>G (p.Tyr606Cys)
NM_000321.3(RB1):c.1818T>A (p.Tyr606Ter) rs137853297
NM_000321.3(RB1):c.1818T>G (p.Tyr606Ter)
NM_000321.3(RB1):c.1822del (p.Ser608fs)
NM_000321.3(RB1):c.1827T>C (p.Pro609=) rs1593531889
NM_000321.3(RB1):c.1828G>A (p.Val610Ile)
NM_000321.3(RB1):c.1829T>C (p.Val610Ala) rs934931283
NM_000321.3(RB1):c.1836T>C (p.Ser612=)
NM_000321.3(RB1):c.1837C>G (p.Pro613Ala)
NM_000321.3(RB1):c.1839A>G (p.Pro613=)
NM_000321.3(RB1):c.1844A>G (p.Lys615Arg) rs1334513810
NM_000321.3(RB1):c.1850G>C (p.Gly617Ala)
NM_000321.3(RB1):c.1853C>G (p.Ser618Ter)
NM_000321.3(RB1):c.1853_1857del (p.Ser618fs)
NM_000321.3(RB1):c.1857T>G (p.Thr619=)
NM_000321.3(RB1):c.1858A>G (p.Thr620Ala)
NM_000321.3(RB1):c.1861C>A (p.Arg621Ser) rs367578442
NM_000321.3(RB1):c.1861C>G (p.Arg621Gly) rs367578442
NM_000321.3(RB1):c.1861C>T (p.Arg621Cys) rs367578442
NM_000321.3(RB1):c.1864G>A (p.Val622Ile) rs2138331204
NM_000321.3(RB1):c.1875T>C (p.Thr625=)
NM_000321.3(RB1):c.1883C>G (p.Ala628Gly) rs1329826610
NM_000321.3(RB1):c.1886A>G (p.Glu629Gly)
NM_000321.3(RB1):c.1887G>T (p.Glu629Asp)
NM_000321.3(RB1):c.1890A>G (p.Thr630=) rs1593532014
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.1895C>A (p.Ala632Glu) rs1949359489
NM_000321.3(RB1):c.1898C>A (p.Thr633Asn) rs587778641
NM_000321.3(RB1):c.1899C>A (p.Thr633=)
NM_000321.3(RB1):c.18C>A (p.Pro6=)
NM_000321.3(RB1):c.18C>T (p.Pro6=) rs1017683562
NM_000321.3(RB1):c.1905C>G (p.Ala635=)
NM_000321.3(RB1):c.1908C>T (p.Phe636=) rs2138331404
NM_000321.3(RB1):c.190T>C (p.Leu64=)
NM_000321.3(RB1):c.1911G>A (p.Gln637=)
NM_000321.3(RB1):c.1912A>G (p.Thr638Ala)
NM_000321.3(RB1):c.1914C>A (p.Thr638=) rs770072166
NM_000321.3(RB1):c.1916A>G (p.Gln639Arg) rs775880919
NM_000321.3(RB1):c.1932T>C (p.Ser644=) rs2138331538
NM_000321.3(RB1):c.1937C>G (p.Ser646Cys) rs1173892082
NM_000321.3(RB1):c.1939_1940del (p.Leu647fs)
NM_000321.3(RB1):c.1940T>C (p.Leu647Pro) rs2138331582
NM_000321.3(RB1):c.1945C>T (p.Leu649=)
NM_000321.3(RB1):c.1946T>C (p.Leu649Pro)
NM_000321.3(RB1):c.1946T>G (p.Leu649Arg)
NM_000321.3(RB1):c.1946del (p.Leu649fs)
NM_000321.3(RB1):c.1957A>G (p.Lys653Glu)
NM_000321.3(RB1):c.1960+5G>C rs587778871
NM_000321.3(RB1):c.1960G>C (p.Val654Leu) rs483352690
NM_000321.3(RB1):c.1961-4A>G
NM_000321.3(RB1):c.1961T>C (p.Val654Ala) rs769113950
NM_000321.3(RB1):c.1961T>G (p.Val654Gly)
NM_000321.3(RB1):c.1962G>T (p.Val654=) rs2138335792
NM_000321.3(RB1):c.1963T>G (p.Tyr655Asp)
NM_000321.3(RB1):c.1971A>G (p.Leu657=) rs2138335837
NM_000321.3(RB1):c.1973C>T (p.Ala658Val)
NM_000321.3(RB1):c.1991C>T (p.Thr664Ile) rs749739772
NM_000321.3(RB1):c.1992A>G (p.Thr664=) rs755417160
NM_000321.3(RB1):c.1993del (p.Leu665fs)
NM_000321.3(RB1):c.1996T>C (p.Cys666Arg) rs1949383921
NM_000321.3(RB1):c.199C>A (p.Pro67Thr)
NM_000321.3(RB1):c.199C>T (p.Pro67Ser) rs1952089775
NM_000321.3(RB1):c.19C>A (p.Arg7=) rs1952051704
NM_000321.3(RB1):c.19dup (p.Arg7fs) rs1131690852
NM_000321.3(RB1):c.2002C>A (p.Arg668Ser) rs369755801
NM_000321.3(RB1):c.2004C>T (p.Arg668=) rs566777900
NM_000321.3(RB1):c.2011_2014del (p.Glu672fs) rs1131690885
NM_000321.3(RB1):c.2013T>C (p.Ser671=)
NM_000321.3(RB1):c.2014G>T (p.Glu672Ter) rs1131690903
NM_000321.3(RB1):c.2016G>C (p.Glu672Asp)
NM_000321.3(RB1):c.201A>G (p.Pro67=)
NM_000321.3(RB1):c.2022A>C (p.Pro674=)
NM_000321.3(RB1):c.2022A>G (p.Pro674=)
NM_000321.3(RB1):c.2025A>G (p.Glu675=)
NM_000321.3(RB1):c.2033A>G (p.His678Arg) rs201046651
NM_000321.3(RB1):c.2035A>G (p.Ile679Val) rs897199998
NM_000321.3(RB1):c.2037C>T (p.Ile679=)
NM_000321.3(RB1):c.203A>C (p.Asp68Ala)
NM_000321.3(RB1):c.2040C>A (p.Ile680=) rs1593534695
NM_000321.3(RB1):c.2042G>A (p.Trp681Ter)
NM_000321.3(RB1):c.2046C>G (p.Thr682=) rs994129583
NM_000321.3(RB1):c.2046C>T (p.Thr682=) rs994129583
NM_000321.3(RB1):c.2053C>T (p.Gln685Ter) rs878853949
NM_000321.3(RB1):c.2055G>A (p.Gln685=)
NM_000321.3(RB1):c.2055del (p.Gln685fs) rs1131690844
NM_000321.3(RB1):c.2058C>A (p.His686Gln) rs748484148
NM_000321.3(RB1):c.2060C>G (p.Thr687Ser)
NM_000321.3(RB1):c.2061C>T (p.Thr687=) rs113432974
NM_000321.3(RB1):c.2074_2087del (p.Tyr692fs)
NM_000321.3(RB1):c.2079A>G (p.Glu693=)
NM_000321.3(RB1):c.207T>C (p.His69=) rs759594127
NM_000321.3(RB1):c.2083A>T (p.Met695Leu)
NM_000321.3(RB1):c.2093G>C (p.Arg698Thr)
NM_000321.3(RB1):c.2094G>C (p.Arg698Ser) rs1131690891
NM_000321.3(RB1):c.2097T>A (p.His699Gln) rs1593534809
NM_000321.3(RB1):c.2102A>C (p.Asp701Ala)
NM_000321.3(RB1):c.2104C>T (p.Gln702Ter) rs1131690865
NM_000321.3(RB1):c.2105A>G (p.Gln702Arg) rs1131690857
NM_000321.3(RB1):c.2106+3A>G rs1353683992
NM_000321.3(RB1):c.2107-1G>A rs587778860
NM_000321.3(RB1):c.2122A>G (p.Met708Val)
NM_000321.3(RB1):c.2124del (p.Met708fs)
NM_000321.3(RB1):c.2128_2132del (p.Gly710fs) rs1131690896
NM_000321.3(RB1):c.2130C>A (p.Gly710=)
NM_000321.3(RB1):c.2133A>T (p.Ile711=) rs2138342328
NM_000321.3(RB1):c.2134T>C (p.Cys712Arg) rs137853296
NM_000321.3(RB1):c.2138A>G (p.Lys713Arg) rs1593538161
NM_000321.3(RB1):c.2143A>T (p.Lys715Ter)
NM_000321.3(RB1):c.2145G>A (p.Lys715=) rs1555294515
NM_000321.3(RB1):c.214G>A (p.Glu72Lys)
NM_000321.3(RB1):c.2164A>T (p.Lys722Ter) rs587778849
NM_000321.3(RB1):c.2165A>G (p.Lys722Arg)
NM_000321.3(RB1):c.2173G>T (p.Val725Leu)
NM_000321.3(RB1):c.2179G>T (p.Ala727Ser)
NM_000321.3(RB1):c.217A>G (p.Arg73Gly)
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.219A>G (p.Arg73=)
NM_000321.3(RB1):c.219_220del (p.Arg73fs) rs587778862
NM_000321.3(RB1):c.21A>G (p.Arg7=) rs2138027098
NM_000321.3(RB1):c.2202T>C (p.Ala734=)
NM_000321.3(RB1):c.2207A>C (p.Gln736Pro) rs1372842030
NM_000321.3(RB1):c.220G>A (p.Ala74Thr) rs1952090208
NM_000321.3(RB1):c.2210dup (p.Thr738fs)
NM_000321.3(RB1):c.2211+4G>A
NM_000321.3(RB1):c.2211+4G>T rs1060503076
NM_000321.3(RB1):c.2211G>A (p.Glu737=) rs587776787
NM_000321.3(RB1):c.2218A>G (p.Lys740Glu)
NM_000321.3(RB1):c.221C>T (p.Ala74Val)
NM_000321.3(RB1):c.2228T>C (p.Leu743Ser)
NM_000321.3(RB1):c.2229G>T (p.Leu743Phe)
NM_000321.3(RB1):c.222T>G (p.Ala74=)
NM_000321.3(RB1):c.2232C>A (p.Ile744=)
NM_000321.3(RB1):c.2237A>G (p.Glu746Gly)
NM_000321.3(RB1):c.2238A>G (p.Glu746=) rs991505835
NM_000321.3(RB1):c.2239GAG[1] (p.Glu748del) rs2138344648
NM_000321.3(RB1):c.2241G>A (p.Glu747=) rs750057315
NM_000321.3(RB1):c.2244G>A (p.Glu748=) rs1131690911
NM_000321.3(RB1):c.2245T>C (p.Tyr749His)
NM_000321.3(RB1):c.2246A>G (p.Tyr749Cys)
NM_000321.3(RB1):c.224G>T (p.Trp75Leu)
NM_000321.3(RB1):c.2253T>A (p.Ser751=)
NM_000321.3(RB1):c.2255T>C (p.Ile752Thr)
NM_000321.3(RB1):c.2257A>T (p.Ile753Leu)
NM_000321.3(RB1):c.2260G>C (p.Val754Leu) rs587778642
NM_000321.3(RB1):c.2266del (p.Tyr756fs)
NM_000321.3(RB1):c.2268T>C (p.Tyr756=) rs2138344778
NM_000321.3(RB1):c.2271C>T (p.Asn757=)
NM_000321.3(RB1):c.2282T>C (p.Met761Thr)
NM_000321.3(RB1):c.2284C>A (p.Gln762Lys) rs1593539225
NM_000321.3(RB1):c.2287A>T (p.Arg763Ter)
NM_000321.3(RB1):c.2288G>A (p.Arg763Lys) rs2138344904
NM_000321.3(RB1):c.2299A>G (p.Asn767Asp)
NM_000321.3(RB1):c.2299_2302del (p.Asn767fs) rs1131690894
NM_000321.3(RB1):c.22A>G (p.Lys8Glu)
NM_000321.3(RB1):c.2307G>A (p.Leu769=)
NM_000321.3(RB1):c.2310G>A (p.Gln770=) rs777040395
NM_000321.3(RB1):c.2311T>C (p.Tyr771His) rs746038522
NM_000321.3(RB1):c.2319C>T (p.Ser773=) rs2138345040
NM_000321.3(RB1):c.231T>A (p.Thr77=)
NM_000321.3(RB1):c.231T>C (p.Thr77=) rs1277146164
NM_000321.3(RB1):c.2320A>T (p.Thr774Ser)
NM_000321.3(RB1):c.2321C>T (p.Thr774Ile)
NM_000321.3(RB1):c.2324G>A (p.Arg775Lys) rs1593539271
NM_000321.3(RB1):c.2325+1G>A rs1131690882
NM_000321.3(RB1):c.2325+1G>C rs1131690882
NM_000321.3(RB1):c.2325+3A>G
NM_000321.3(RB1):c.2325+5G>A rs886042249
NM_000321.3(RB1):c.2326-4C>G rs1356053052
NM_000321.3(RB1):c.2326C>G (p.Pro776Ala)
NM_000321.3(RB1):c.2326C>T (p.Pro776Ser)
NM_000321.3(RB1):c.2327C>A (p.Pro776His) rs912203557
NM_000321.3(RB1):c.2328C>T (p.Pro776=)
NM_000321.3(RB1):c.2333C>T (p.Thr778Ile) rs1593539364
NM_000321.3(RB1):c.2334C>T (p.Thr778=) rs1593539365
NM_000321.3(RB1):c.2336T>C (p.Leu779Ser)
NM_000321.3(RB1):c.233G>C (p.Trp78Ser) rs1593414417
NM_000321.3(RB1):c.2343A>G (p.Pro781=)
NM_000321.3(RB1):c.2345T>C (p.Ile782Thr) rs1949432262
NM_000321.3(RB1):c.2346dup (p.Pro783fs)
NM_000321.3(RB1):c.2352C>T (p.His784=)
NM_000321.3(RB1):c.2359C>T (p.Arg787Ter) rs137853293
NM_000321.3(RB1):c.235G>C (p.Glu79Gln) rs1060503090
NM_000321.3(RB1):c.2363_2384dup (p.Leu797_Arg798insGlnValSerTerProLeu) rs1593539386
NM_000321.3(RB1):c.2365C>T (p.Pro789Ser) rs1949432512
NM_000321.3(RB1):c.2366C>A (p.Pro789His)
NM_000321.3(RB1):c.2366C>T (p.Pro789Leu) rs1467492987
NM_000321.3(RB1):c.2369A>G (p.Tyr790Cys)
NM_000321.3(RB1):c.2372A>G (p.Lys791Arg) rs777670056
NM_000321.3(RB1):c.2373G>T (p.Lys791Asn)
NM_000321.3(RB1):c.2381G>A (p.Ser794Asn)
NM_000321.3(RB1):c.2382T>C (p.Ser794=) rs1470919585
NM_000321.3(RB1):c.2392C>A (p.Arg798=)
NM_000321.3(RB1):c.2396T>A (p.Ile799Asn)
NM_000321.3(RB1):c.2396_2398delinsATA (p.Ile799_Pro800delinsAsnThr)
NM_000321.3(RB1):c.2397T>C (p.Ile799=) rs749392116
NM_000321.3(RB1):c.2398C>A (p.Pro800Thr)
NM_000321.3(RB1):c.2404G>A (p.Gly802Arg)
NM_000321.3(RB1):c.2405G>A (p.Gly802Glu)
NM_000321.3(RB1):c.2406G>A (p.Gly802=) rs866638680
NM_000321.3(RB1):c.2409C>T (p.Asn803=) rs1379479714
NM_000321.3(RB1):c.240A>G (p.Lys80=)
NM_000321.3(RB1):c.240A>T (p.Lys80Asn)
NM_000321.3(RB1):c.2412C>A (p.Ile804=)
NM_000321.3(RB1):c.2413_2420del (p.Tyr805fs) rs1131690868
NM_000321.3(RB1):c.2415T>C (p.Tyr805=)
NM_000321.3(RB1):c.2417T>G (p.Ile806Ser)
NM_000321.3(RB1):c.2418T>C (p.Ile806=)
NM_000321.3(RB1):c.2420C>T (p.Ser807Leu)
NM_000321.3(RB1):c.2422C>T (p.Pro808Ser)
NM_000321.3(RB1):c.2424C>A (p.Pro808=)
NM_000321.3(RB1):c.2424C>G (p.Pro808=)
NM_000321.3(RB1):c.2427G>A (p.Leu809=) rs1279093123
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.2439T>A (p.Tyr813Ter) rs774744607
NM_000321.3(RB1):c.2439T>G (p.Tyr813Ter) rs774744607
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)
NM_000321.3(RB1):c.244T>A (p.Ser82Thr)
NM_000321.3(RB1):c.2452G>C (p.Gly818Arg)
NM_000321.3(RB1):c.2453G>A (p.Gly818Asp) rs1949433617
NM_000321.3(RB1):c.2453G>T (p.Gly818Val)
NM_000321.3(RB1):c.2455C>G (p.Leu819Val) rs375751988
NM_000321.3(RB1):c.2455C>T (p.Leu819=) rs375751988
NM_000321.3(RB1):c.245C>T (p.Ser82Leu)
NM_000321.3(RB1):c.2465del (p.Pro822fs) rs1131690866
NM_000321.3(RB1):c.2466A>C (p.Pro822=)
NM_000321.3(RB1):c.2466A>G (p.Pro822=)
NM_000321.3(RB1):c.246A>T (p.Ser82=)
NM_000321.3(RB1):c.2470A>G (p.Lys824Glu)
NM_000321.3(RB1):c.2477C>A (p.Thr826Asn)
NM_000321.3(RB1):c.2479C>T (p.Pro827Ser)
NM_000321.3(RB1):c.2480dup (p.Arg828fs)
NM_000321.3(RB1):c.2481A>G (p.Pro827=) rs1949433968
NM_000321.3(RB1):c.2484A>G (p.Arg828=) rs1949433985
NM_000321.3(RB1):c.2489+1G>A rs764754259
NM_000321.3(RB1):c.2489+1G>C rs764754259
NM_000321.3(RB1):c.2489+4T>C
NM_000321.3(RB1):c.2489G>A (p.Arg830Lys)
NM_000321.3(RB1):c.2490-28T>G
NM_000321.3(RB1):c.2490-5G>A rs1593544633
NM_000321.3(RB1):c.2496_2505del (p.Ser834fs)
NM_000321.3(RB1):c.2497G>A (p.Val833Ile) rs2138354621
NM_000321.3(RB1):c.2499A>G (p.Val833=)
NM_000321.3(RB1):c.24A>C (p.Lys8Asn)
NM_000321.3(RB1):c.2501C>A (p.Ser834Ter) rs1131690906
NM_000321.3(RB1):c.2502A>G (p.Ser834=)
NM_000321.3(RB1):c.2504T>C (p.Ile835Thr)
NM_000321.3(RB1):c.2511A>G (p.Glu837=) rs1949484299
NM_000321.3(RB1):c.2513C>A (p.Ser838Ter) rs1131690908
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+1G>T rs587778850
NM_000321.3(RB1):c.2520+1del rs587776779
NM_000321.3(RB1):c.2520+3G>A rs868434367
NM_000321.3(RB1):c.2520+3_2520+6del rs1131690858
NM_000321.3(RB1):c.2520+5G>A rs1131690881
NM_000321.3(RB1):c.2520+5G>C rs1131690881
NM_000321.3(RB1):c.2520G>T (p.Gly840=) rs1949484533
NM_000321.3(RB1):c.2533T>C (p.Phe845Leu) rs754183765
NM_000321.3(RB1):c.2540A>G (p.Lys847Arg)
NM_000321.3(RB1):c.2551A>G (p.Met851Val)
NM_000321.3(RB1):c.2556A>G (p.Val852=)
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.2562C>T (p.Asn854=)
NM_000321.3(RB1):c.2566G>T (p.Asp856Tyr) rs149359120
NM_000321.3(RB1):c.2569C>T (p.Arg857Cys)
NM_000321.3(RB1):c.2570G>T (p.Arg857Leu) rs144668210
NM_000321.3(RB1):c.2572G>C (p.Val858Leu)
NM_000321.3(RB1):c.2574G>A (p.Val858=)
NM_000321.3(RB1):c.2575C>T (p.Leu859Phe)
NM_000321.3(RB1):c.2586T>C (p.Ser862=) rs1593547157
NM_000321.3(RB1):c.2587G>A (p.Ala863Thr) rs1949506505
NM_000321.3(RB1):c.2588C>A (p.Ala863Asp)
NM_000321.3(RB1):c.2597G>A (p.Ser866Asn) rs1593547165
NM_000321.3(RB1):c.2598C>T (p.Ser866=)
NM_000321.3(RB1):c.25del (p.Thr9fs)
NM_000321.3(RB1):c.2604T>C (p.Pro868=)
NM_000321.3(RB1):c.2605C>T (p.Pro869Ser)
NM_000321.3(RB1):c.2609A>G (p.Lys870Arg)
NM_000321.3(RB1):c.2611C>A (p.Pro871Thr)
NM_000321.3(RB1):c.2615T>C (p.Leu872Pro) rs1470516350
NM_000321.3(RB1):c.2616G>A (p.Leu872=)
NM_000321.3(RB1):c.2627G>A (p.Arg876His) rs767232453
NM_000321.3(RB1):c.2628C>T (p.Arg876=) rs1593547215
NM_000321.3(RB1):c.2632G>A (p.Asp878Asn)
NM_000321.3(RB1):c.264+182_264+980del
NM_000321.3(RB1):c.264+1G>A rs1131690907
NM_000321.3(RB1):c.264+5G>C rs1131690853
NM_000321.3(RB1):c.2642G>A (p.Gly881Glu)
NM_000321.3(RB1):c.2642G>C (p.Gly881Ala) rs1949507139
NM_000321.3(RB1):c.2646A>C (p.Ser882=)
NM_000321.3(RB1):c.2646A>G (p.Ser882=)
NM_000321.3(RB1):c.2648A>G (p.Asp883Gly)
NM_000321.3(RB1):c.2652A>G (p.Glu884=) rs765537411
NM_000321.3(RB1):c.2658T>C (p.Asp886=) rs1179137535
NM_000321.3(RB1):c.266G>A (p.Gly89Glu) rs371655281
NM_000321.3(RB1):c.2672T>C (p.Leu891Pro)
NM_000321.3(RB1):c.2673C>T (p.Leu891=)
NM_000321.3(RB1):c.2674C>T (p.Pro892Ser)
NM_000321.3(RB1):c.2675C>T (p.Pro892Leu)
NM_000321.3(RB1):c.2685C>G (p.Ser895=) rs2138360868
NM_000321.3(RB1):c.2694G>A (p.Gln898=) rs757275103
NM_000321.3(RB1):c.2704G>A (p.Ala902Thr)
NM_000321.3(RB1):c.270T>C (p.Gly90=) rs1593434172
NM_000321.3(RB1):c.2712G>T (p.Met904Ile) rs1461167778
NM_000321.3(RB1):c.2714-4C>T rs768351559
NM_000321.3(RB1):c.2715T>G (p.Thr905=)
NM_000321.3(RB1):c.2720C>A (p.Thr907Asn)
NM_000321.3(RB1):c.2720C>T (p.Thr907Ile)
NM_000321.3(RB1):c.2722C>A (p.Arg908=)
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.2730A>G (p.Arg910=) rs1245341503
NM_000321.3(RB1):c.2735A>G (p.Gln912Arg) rs1949528429
NM_000321.3(RB1):c.2737A>G (p.Lys913Glu)
NM_000321.3(RB1):c.2750A>G (p.Asn917Ser) rs1475201975
NM_000321.3(RB1):c.2755A>G (p.Ser919Gly) rs1555295597
NM_000321.3(RB1):c.2758A>G (p.Met920Val)
NM_000321.3(RB1):c.2763T>C (p.Asp921=)
NM_000321.3(RB1):c.2764A>G (p.Thr922Ala) rs1949528678
NM_000321.3(RB1):c.2772C>T (p.Asn924=) rs1949528716
NM_000321.3(RB1):c.2777A>G (p.Glu926Gly) rs1593549718
NM_000321.3(RB1):c.277C>T (p.Gln93Ter) rs1131690915
NM_000321.3(RB1):c.2782A>T (p.Lys928Ter)
NM_000321.3(RB1):c.281dup (p.Lys95fs) rs1131690862
NM_000321.3(RB1):c.283A>C (p.Lys95Gln)
NM_000321.3(RB1):c.291A>G (p.Glu97=) rs919345517
NM_000321.3(RB1):c.294G>A (p.Leu98=) rs2138083659
NM_000321.3(RB1):c.297G>A (p.Trp99Ter) rs794727481
NM_000321.3(RB1):c.297G>C (p.Trp99Cys)
NM_000321.3(RB1):c.299G>A (p.Gly100Glu)
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)
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.30C>T (p.Ala10=) rs530961288
NM_000321.3(RB1):c.315T>A (p.Ile105=)
NM_000321.3(RB1):c.315T>C (p.Ile105=)
NM_000321.3(RB1):c.318A>T (p.Ala106=)
NM_000321.3(RB1):c.319G>A (p.Ala107Thr)
NM_000321.3(RB1):c.321A>C (p.Ala107=) rs2138083810
NM_000321.3(RB1):c.32C>G (p.Ala11Gly) rs899323337
NM_000321.3(RB1):c.32C>T (p.Ala11Val)
NM_000321.3(RB1):c.333T>C (p.Asp111=)
NM_000321.3(RB1):c.334G>T (p.Glu112Ter)
NM_000321.3(RB1):c.337A>C (p.Met113Leu) rs1593434246
NM_000321.3(RB1):c.337A>G (p.Met113Val)
NM_000321.3(RB1):c.339G>A (p.Met113Ile) rs1593434250
NM_000321.3(RB1):c.33C>T (p.Ala11=) rs1593411999
NM_000321.3(RB1):c.34_36dup (p.Thr12_Ala13insThr)
NM_000321.3(RB1):c.34_42del (p.9TAA[1]) rs759465865
NM_000321.3(RB1):c.34_51del (p.Thr12_Ala17del)
NM_000321.3(RB1):c.357G>T (p.Glu119Asp) rs1593434283
NM_000321.3(RB1):c.364A>C (p.Lys122Gln)
NM_000321.3(RB1):c.36C>A (p.Thr12=)
NM_000321.3(RB1):c.371T>C (p.Ile124Thr)
NM_000321.3(RB1):c.371_372del (p.Ile124fs) rs1566186125
NM_000321.3(RB1):c.372A>G (p.Ile124Met) rs1593434342
NM_000321.3(RB1):c.373G>A (p.Glu125Lys)
NM_000321.3(RB1):c.373G>T (p.Glu125Ter) rs1952457111
NM_000321.3(RB1):c.375A>G (p.Glu125=)
NM_000321.3(RB1):c.377del (p.Ile126fs) rs2138084130
NM_000321.3(RB1):c.378C>A (p.Ile126=)
NM_000321.3(RB1):c.380+1G>A rs1131690902
NM_000321.3(RB1):c.380G>A (p.Ser127Asn) rs1131690843
NM_000321.3(RB1):c.380G>C (p.Ser127Thr) rs1131690843
NM_000321.3(RB1):c.381-4G>T
NM_000321.3(RB1):c.382G>A (p.Val128Ile)
NM_000321.3(RB1):c.387T>C (p.His129=)
NM_000321.3(RB1):c.387T>G (p.His129Gln) rs1593435676
NM_000321.3(RB1):c.389A>C (p.Lys130Thr) rs1593435682
NM_000321.3(RB1):c.38C>G (p.Ala13Gly)
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.393C>T (p.Phe131=)
NM_000321.3(RB1):c.396T>C (p.Phe132=) rs768768956
NM_000321.3(RB1):c.397A>C (p.Asn133His) rs3092900
NM_000321.3(RB1):c.397A>G (p.Asn133Asp)
NM_000321.3(RB1):c.39C>T (p.Ala13=)
NM_000321.3(RB1):c.400T>G (p.Leu134Val)
NM_000321.3(RB1):c.402A>G (p.Leu134=) rs1566186851
NM_000321.3(RB1):c.404T>C (p.Leu135Pro) rs1593435713
NM_000321.3(RB1):c.406A>G (p.Lys136Glu)
NM_000321.3(RB1):c.408A>C (p.Lys136Asn)
NM_000321.3(RB1):c.40_41delinsCT (p.Ala14Leu)
NM_000321.3(RB1):c.420C>A (p.Thr140=)
NM_000321.3(RB1):c.421A>G (p.Ser141Gly)
NM_000321.3(RB1):c.434del (p.Asp145fs) rs1131690912
NM_000321.3(RB1):c.435T>C (p.Asp145=)
NM_000321.3(RB1):c.436A>C (p.Asn146His) rs1266294051
NM_000321.3(RB1):c.443del (p.Met148fs) rs1131690867
NM_000321.3(RB1):c.446C>G (p.Ser149Ter) rs587778870
NM_000321.3(RB1):c.451C>G (p.Leu151Val)
NM_000321.3(RB1):c.452T>A (p.Leu151Gln) rs2138087581
NM_000321.3(RB1):c.453_454del (p.Leu152fs)
NM_000321.3(RB1):c.459G>A (p.Lys153=)
NM_000321.3(RB1):c.459G>C (p.Lys153Asn) rs773642334
NM_000321.3(RB1):c.45T>G (p.Ala15=)
NM_000321.3(RB1):c.45_50del (p.Ala17_Ala18del)
NM_000321.3(RB1):c.45_50dup (p.Ala17_Ala18dup) rs1173330253
NM_000321.3(RB1):c.45_53del (p.Ala16_Ala18del) rs572454921
NM_000321.3(RB1):c.464A>G (p.Tyr155Cys)
NM_000321.3(RB1):c.466G>C (p.Asp156His) rs1034616967
NM_000321.3(RB1):c.466G>T (p.Asp156Tyr) rs1034616967
NM_000321.3(RB1):c.474G>A (p.Leu158=) rs1319691084
NM_000321.3(RB1):c.474G>C (p.Leu158Phe) rs1319691084
NM_000321.3(RB1):c.477T>A (p.Phe159Leu) rs1952481513
NM_000321.3(RB1):c.480A>G (p.Ala160=) rs776484051
NM_000321.3(RB1):c.481C>T (p.Leu161Phe)
NM_000321.3(RB1):c.485T>A (p.Phe162Tyr) rs764881599
NM_000321.3(RB1):c.48C>T (p.Ala16=)
NM_000321.3(RB1):c.496G>T (p.Glu166Ter) rs1131690874
NM_000321.3(RB1):c.49G>A (p.Ala17Thr) rs1566174092
NM_000321.3(RB1):c.49G>T (p.Ala17Ser)
NM_000321.3(RB1):c.500+1G>T rs1131690880
NM_000321.3(RB1):c.500G>A (p.Arg167Lys)
NM_000321.3(RB1):c.500G>C (p.Arg167Thr)
NM_000321.3(RB1):c.501-2A>G
NM_000321.3(RB1):c.503C>T (p.Thr168Ile)
NM_000321.3(RB1):c.506del (p.Cys169fs)
NM_000321.3(RB1):c.50C>T (p.Ala17Val) rs1593412070
NM_000321.3(RB1):c.514A>G (p.Ile172Val) rs2138091600
NM_000321.3(RB1):c.514A>T (p.Ile172Leu)
NM_000321.3(RB1):c.515T>C (p.Ile172Thr) rs1952511717
NM_000321.3(RB1):c.516A>G (p.Ile172Met)
NM_000321.3(RB1):c.519T>C (p.Tyr173=)
NM_000321.3(RB1):c.51C>G (p.Ala17=) rs1593412073
NM_000321.3(RB1):c.51C>T (p.Ala17=)
NM_000321.3(RB1):c.520T>C (p.Leu174=)
NM_000321.3(RB1):c.524del (p.Thr175fs)
NM_000321.3(RB1):c.526_527del (p.Gln176fs)
NM_000321.3(RB1):c.529C>G (p.Pro177Ala)
NM_000321.3(RB1):c.529C>T (p.Pro177Ser) rs1357310270
NM_000321.3(RB1):c.530C>G (p.Pro177Arg) rs1952511945
NM_000321.3(RB1):c.531CAG[1] (p.Ser180del)
NM_000321.3(RB1):c.533G>A (p.Ser178Asn)
NM_000321.3(RB1):c.539+1G>A rs1566187856
NM_000321.3(RB1):c.539+1G>T
NM_000321.3(RB1):c.539del (p.Ser179_Ser180insTer) rs1131690871
NM_000321.3(RB1):c.541A>G (p.Ile181Val) rs781708508
NM_000321.3(RB1):c.545C>T (p.Ser182Phe)
NM_000321.3(RB1):c.548C>T (p.Thr183Ile) rs1952522583
NM_000321.3(RB1):c.549del (p.Glu184fs) rs1131690887
NM_000321.3(RB1):c.54_76dup (p.Pro26fs) rs1555279210
NM_000321.3(RB1):c.54_79del (p.Glu19fs) rs727504120
NM_000321.3(RB1):c.54_79dup (p.Pro27fs)
NM_000321.3(RB1):c.552A>C (p.Glu184Asp) rs1220347917
NM_000321.3(RB1):c.554T>G (p.Ile185Arg)
NM_000321.3(RB1):c.557A>G (p.Asn186Ser)
NM_000321.3(RB1):c.55G>T (p.Glu19Ter)
NM_000321.3(RB1):c.560C>G (p.Ser187Cys) rs770277291
NM_000321.3(RB1):c.562G>A (p.Ala188Thr) rs1189153218
NM_000321.3(RB1):c.563C>T (p.Ala188Val) rs1593437973
NM_000321.3(RB1):c.565T>C (p.Leu189=) rs2138093547
NM_000321.3(RB1):c.56_75dup (p.Pro26fs)
NM_000321.3(RB1):c.570G>A (p.Val190=) rs775061547
NM_000321.3(RB1):c.575A>G (p.Lys192Arg)
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)
NM_000321.3(RB1):c.58C>T (p.Pro20Ser)
NM_000321.3(RB1):c.590C>A (p.Thr197Lys) rs1131690883
NM_000321.3(RB1):c.607+1G>A rs587776789
NM_000321.3(RB1):c.607+1G>C rs587776789
NM_000321.3(RB1):c.607+1G>T rs587776789
NM_000321.3(RB1):c.607+2dup rs1131690895
NM_000321.3(RB1):c.607+5G>A rs2138093817
NM_000321.3(RB1):c.607G>T (p.Gly203Trp) rs1012377281
NM_000321.3(RB1):c.608-4del rs762805947
NM_000321.3(RB1):c.608-4dup rs762805947
NM_000321.3(RB1):c.608G>A (p.Gly203Glu) rs2138107541
NM_000321.3(RB1):c.60C>A (p.Pro20=) rs777340111
NM_000321.3(RB1):c.60C>G (p.Pro20=) rs777340111
NM_000321.3(RB1):c.611A>G (p.Glu204Gly)
NM_000321.3(RB1):c.615A>G (p.Val205=)
NM_000321.3(RB1):c.616T>C (p.Leu206=) rs886050270
NM_000321.3(RB1):c.618A>G (p.Leu206=) rs1593443486
NM_000321.3(RB1):c.621A>G (p.Gln207=)
NM_000321.3(RB1):c.624G>A (p.Met208Ile)
NM_000321.3(RB1):c.62C>T (p.Pro21Leu) rs1444353743
NM_000321.3(RB1):c.62del (p.Pro21fs)
NM_000321.3(RB1):c.634C>T (p.Leu212=) rs147085238
NM_000321.3(RB1):c.635del (p.Leu212fs)
NM_000321.3(RB1):c.63G>C (p.Pro21=)
NM_000321.3(RB1):c.644C>A (p.Ser215Ter) rs768305224
NM_000321.3(RB1):c.644C>T (p.Ser215Leu) rs768305224
NM_000321.3(RB1):c.660A>G (p.Leu220=) rs886449283
NM_000321.3(RB1):c.663T>C (p.Cys221=)
NM_000321.3(RB1):c.667del (p.Asp224fs)
NM_000321.3(RB1):c.66A>G (p.Ala22=) rs1014225642
NM_000321.3(RB1):c.66A>T (p.Ala22=)
NM_000321.3(RB1):c.674A>G (p.Tyr225Cys) rs771567627
NM_000321.3(RB1):c.679A>G (p.Ile227Val)
NM_000321.3(RB1):c.681del (p.Lys228fs) rs1131690905
NM_000321.3(RB1):c.683A>G (p.Lys228Arg)
NM_000321.3(RB1):c.687C>G (p.Leu229=)
NM_000321.3(RB1):c.689C>T (p.Ser230Leu) rs1459523811
NM_000321.3(RB1):c.68C>G (p.Pro23Arg)
NM_000321.3(RB1):c.68C>T (p.Pro23Leu) rs1952053594
NM_000321.3(RB1):c.693T>C (p.Pro231=)
NM_000321.3(RB1):c.698T>C (p.Met233Thr)
NM_000321.3(RB1):c.699G>A (p.Met233Ile) rs1952626050
NM_000321.3(RB1):c.69G>A (p.Pro23=) rs746662122
NM_000321.3(RB1):c.69G>C (p.Pro23=) rs746662122
NM_000321.3(RB1):c.69GCC[3] (p.Pro29del) rs587778823
NM_000321.3(RB1):c.69GCC[5] (p.Pro29dup) rs587778823
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.702del (p.Leu234fs) rs1131690878
NM_000321.3(RB1):c.703C>T (p.Leu235Phe)
NM_000321.3(RB1):c.709G>T (p.Glu237Ter) rs1131690904
NM_000321.3(RB1):c.712C>G (p.Pro238Ala)
NM_000321.3(RB1):c.714A>G (p.Pro238=)
NM_000321.3(RB1):c.715T>C (p.Tyr239His)
NM_000321.3(RB1):c.718+5G>T rs1131690848
NM_000321.3(RB1):c.718A>G (p.Lys240Glu) rs2138108056
NM_000321.3(RB1):c.719-4A>G
NM_000321.3(RB1):c.71C>A (p.Pro24Gln)
NM_000321.3(RB1):c.722C>T (p.Thr241Ile) rs1593445085
NM_000321.3(RB1):c.723A>G (p.Thr241=)
NM_000321.3(RB1):c.724G>A (p.Ala242Thr)
NM_000321.3(RB1):c.727G>C (p.Val243Leu) rs1952655034
NM_000321.3(RB1):c.72G>A (p.Pro24=)
NM_000321.3(RB1):c.72G>C (p.Pro24=) rs1333596916
NM_000321.3(RB1):c.731_732delinsATC (p.Ile244fs) rs1131690890
NM_000321.3(RB1):c.735del (p.Ile246fs) rs1131690847
NM_000321.3(RB1):c.739A>G (p.Asn247Asp) rs1429451823
NM_000321.3(RB1):c.741T>C (p.Asn247=)
NM_000321.3(RB1):c.744T>C (p.Gly248=) rs1297277579
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.74C>T (p.Pro25Leu) rs1593412158
NM_000321.3(RB1):c.751C>G (p.Arg251Gly)
NM_000321.3(RB1):c.751C>T (p.Arg251Ter) rs1131690863
NM_000321.3(RB1):c.75G>A (p.Pro25=)
NM_000321.3(RB1):c.75G>T (p.Pro25=)
NM_000321.3(RB1):c.760A>G (p.Arg254Gly) rs2138112300
NM_000321.3(RB1):c.763C>T (p.Arg255Ter) rs587778842
NM_000321.3(RB1):c.764G>A (p.Arg255Gln) rs746954896
NM_000321.3(RB1):c.76C>T (p.Pro26Ser)
NM_000321.3(RB1):c.770A>G (p.Gln257Arg) rs1232080974
NM_000321.3(RB1):c.772_776del (p.Asn258fs) rs1566192530
NM_000321.3(RB1):c.787A>G (p.Ile263Val)
NM_000321.3(RB1):c.788T>G (p.Ile263Arg)
NM_000321.3(RB1):c.78G>T (p.Pro26=)
NM_000321.3(RB1):c.78_83dup (p.Pro28_Pro29dup) rs1555279223
NM_000321.3(RB1):c.791C>G (p.Ala264Gly)
NM_000321.3(RB1):c.791C>T (p.Ala264Val)
NM_000321.3(RB1):c.792A>C (p.Ala264=)
NM_000321.3(RB1):c.79C>T (p.Pro27Ser) rs1309325353
NM_000321.3(RB1):c.807T>G (p.Asn269Lys) rs922948338
NM_000321.3(RB1):c.810T>C (p.Asp270=) rs1555284937
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.814del (p.Arg272fs)
NM_000321.3(RB1):c.817A>G (p.Ile273Val)
NM_000321.3(RB1):c.81C>T (p.Pro27=)
NM_000321.3(RB1):c.820A>G (p.Ile274Val)
NM_000321.3(RB1):c.82C>A (p.Pro28Thr)
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)
NM_000321.3(RB1):c.843T>C (p.His281=)
NM_000321.3(RB1):c.846del (p.Glu282fs) rs1131690849
NM_000321.3(RB1):c.84T>A (p.Pro28=)
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.857A>G (p.Asp286Gly) rs1131690864
NM_000321.3(RB1):c.861+2T>C
NM_000321.3(RB1):c.862-2A>C rs1131690914
NM_000321.3(RB1):c.863_864del (p.Val288fs)
NM_000321.3(RB1):c.864G>A (p.Val288=)
NM_000321.3(RB1):c.867A>C (p.Lys289Asn) rs1555285126
NM_000321.3(RB1):c.869del (p.Asn290fs) rs1131690901
NM_000321.3(RB1):c.871G>A (p.Val291Ile)
NM_000321.3(RB1):c.873T>C (p.Val291=)
NM_000321.3(RB1):c.876T>C (p.Tyr292=) rs2138116341
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.893C>A (p.Pro298His)
NM_000321.3(RB1):c.893C>T (p.Pro298Leu)
NM_000321.3(RB1):c.899T>C (p.Met300Thr)
NM_000321.3(RB1):c.905C>A (p.Ser302Tyr) rs1208736713
NM_000321.3(RB1):c.907C>G (p.Leu303Val)
NM_000321.3(RB1):c.907C>T (p.Leu303Phe)
NM_000321.3(RB1):c.908T>G (p.Leu303Arg) rs900955797
NM_000321.3(RB1):c.909T>G (p.Leu303=)
NM_000321.3(RB1):c.912A>G (p.Gly304=) rs1593446655
NM_000321.3(RB1):c.913C>T (p.Leu305Phe) rs1292944238
NM_000321.3(RB1):c.916G>A (p.Val306Ile)
NM_000321.3(RB1):c.920C>G (p.Thr307Arg)
NM_000321.3(RB1):c.921A>G (p.Thr307=) rs1268911747
NM_000321.3(RB1):c.923C>T (p.Ser308Phe)
NM_000321.3(RB1):c.925A>G (p.Asn309Asp)
NM_000321.3(RB1):c.926A>G (p.Asn309Ser) rs1952680701
NM_000321.3(RB1):c.939+5T>G rs1952680873
NM_000321.3(RB1):c.93G>A (p.Glu31=)
NM_000321.3(RB1):c.940-1G>A rs1131690860
NM_000321.3(RB1):c.941T>C (p.Val314Ala)
NM_000321.3(RB1):c.947A>G (p.Asn316Ser) rs2138120959
NM_000321.3(RB1):c.948T>C (p.Asn316=) rs749023632
NM_000321.3(RB1):c.94G>A (p.Asp32Asn) rs1593412219
NM_000321.3(RB1):c.957A>G (p.Lys319=)
NM_000321.3(RB1):c.958C>T (p.Arg320Ter) rs121913300
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.963del (p.Arg320_Tyr321insTer) rs1952715820
NM_000321.3(RB1):c.964G>A (p.Glu322Lys) rs776534331
NM_000321.3(RB1):c.964G>T (p.Glu322Ter) rs776534331
NM_000321.3(RB1):c.969A>C (p.Glu323Asp)
NM_000321.3(RB1):c.974A>C (p.Tyr325Ser)
NM_000321.3(RB1):c.976C>T (p.Leu326Phe) rs1566194351
NM_000321.3(RB1):c.978T>C (p.Leu326=)
NM_000321.3(RB1):c.978T>G (p.Leu326=) rs2138121153
NM_000321.3(RB1):c.981A>C (p.Lys327Asn)
NM_000321.3(RB1):c.982A>C (p.Asn328His)
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.987del (p.Asp330fs)
NM_000321.3(RB1):c.989A>T (p.Asp330Val)
NM_000321.3(RB1):c.990T>G (p.Asp330Glu)
NM_000321.3(RB1):c.995del (p.Asp332fs)
NM_000321.3(RB1):c.999A>G (p.Ala333=)
NM_000321.3(RB1):c.99A>G (p.Pro33=) rs1055176035
NM_000321.3(RB1):c.9C>A (p.Pro3=)
NM_000321.3(RB1):c.9C>T (p.Pro3=)
NM_000321.3(RB1):c.9_42dup (p.Ala15fs) rs1555279195

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