ClinVar Miner

List of variants in gene RB1 studied for cancer

Included ClinVar conditions (474):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2559
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HGVS dbSNP gnomAD frequency
NM_000321.3(RB1):c.500+23T>G rs198617 0.93273
NM_000321.3(RB1):c.2663+33C>T rs3020646 0.90292
NM_000321.3(RB1):c.380+45C>T rs520342 0.21231
NM_000321.3(RB1):c.2664-10T>A rs3092904 0.19833
NM_000321.3(RB1):c.1390-14A>T rs9535023 0.04866
NM_000321.3(RB1):c.1216-29A>G rs3092886 0.02593
NM_000321.3(RB1):c.*964C>G rs4151633 0.01550
NM_000321.3(RB1):c.*1687T>C rs4151635 0.01545
NM_000321.3(RB1):c.2212-16T>A rs201258424 0.01386
NM_000321.3(RB1):c.380+12T>C rs3092881 0.01087
NM_000321.3(RB1):c.*463T>A rs4151631 0.01065
NM_000321.3(RB1):c.*184A>T rs4151630 0.00902
NM_000321.3(RB1):c.*703G>T rs139023385 0.00672
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.2490-45A>G rs4151610 0.00540
NM_000321.3(RB1):c.*1527_*1528del rs540108904 0.00501
NM_000321.3(RB1):c.862-15C>A rs115108608 0.00442
NM_000321.3(RB1):c.1390-11A>G rs200658795 0.00365
NM_000321.3(RB1):c.1499-8A>T rs1555286676 0.00257
NM_000321.3(RB1):c.1632A>G (p.Arg544=) rs143948310 0.00245
NM_000321.3(RB1):c.2212-15A>G rs372815788 0.00212
NM_000321.3(RB1):c.2212-6C>T rs776162179 0.00164
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.*172G>A rs143536240 0.00137
NM_000321.3(RB1):c.1421+9T>C rs183417081 0.00108
NM_000321.3(RB1):c.1961-12T>C rs201697122 0.00104
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.*1044T>A rs1043605723 0.00036
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.540-14T>C rs140706037 0.00022
NM_000321.3(RB1):c.2212-12G>A rs776987458 0.00018
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.-69G>C rs753117180 0.00014
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.*68A>G rs547352312 0.00012
NM_000321.3(RB1):c.1888A>G (p.Thr630Ala) rs781691254 0.00011
NM_000321.3(RB1):c.2463A>G (p.Thr821=) rs370088029 0.00011
NM_000321.3(RB1):c.264+20G>A rs200985890 0.00011
NM_000321.3(RB1):c.59C>T (p.Pro20Leu) rs587778637 0.00011
NM_000321.3(RB1):c.2714-11C>T rs764362157 0.00010
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.*1022C>T rs886050283 0.00009
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.862-20T>C rs1042945773 0.00009
NM_000321.3(RB1):c.959G>A (p.Arg320Gln) rs760787104 0.00009
NM_000321.3(RB1):c.1960+19T>A rs774145452 0.00008
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.1815-12A>G rs370482884 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.*1748A>T rs556205552 0.00005
NM_000321.3(RB1):c.138-20T>C rs376775524 0.00005
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.*1707C>T rs755984043 0.00004
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.1390-10T>C rs1323914179 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.1696-13A>G rs759198467 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.1814+11T>C rs771369373 0.00004
NM_000321.3(RB1):c.1887G>C (p.Glu629Asp) rs367668687 0.00004
NM_000321.3(RB1):c.2211+15A>G rs376465035 0.00004
NM_000321.3(RB1):c.2221C>T (p.Arg741Cys) rs529366765 0.00004
NM_000321.3(RB1):c.2490-1470G>A rs183939957 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.719-8T>C rs754589578 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.*162T>G rs886050273 0.00003
NM_000321.3(RB1):c.*1771A>G rs577749913 0.00003
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.1745C>G (p.Pro582Arg) rs757198343 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.2490-15A>C rs772625432 0.00003
NM_000321.3(RB1):c.2521-12T>C rs4151623 0.00003
NM_000321.3(RB1):c.2521-9A>C rs949077145 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.1049+20T>C rs756125607 0.00002
NM_000321.3(RB1):c.1083C>A (p.Asn361Lys) rs976503237 0.00002
NM_000321.3(RB1):c.1128-43C>T rs955333850 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.137+17G>A rs1293021818 0.00002
NM_000321.3(RB1):c.1464G>A (p.Ala488=) rs753520981 0.00002
NM_000321.3(RB1):c.1499-19T>A rs1224266949 0.00002
NM_000321.3(RB1):c.1696-14C>T rs776912915 0.00002
NM_000321.3(RB1):c.1898C>T (p.Thr633Ile) rs587778641 0.00002
NM_000321.3(RB1):c.1961-6C>T rs200501806 0.00002
NM_000321.3(RB1):c.1981C>T (p.Arg661Trp) rs137853294 0.00002
NM_000321.3(RB1):c.1989T>C (p.Asn663=) rs780654106 0.00002
NM_000321.3(RB1):c.2106+8A>G rs750581965 0.00002
NM_000321.3(RB1):c.2107-18C>T rs769658795 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.2461A>G (p.Thr821Ala) rs761015353 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.2521-20A>G rs778990487 0.00002
NM_000321.3(RB1):c.264+19C>T rs768676562 0.00002
NM_000321.3(RB1):c.2664-9A>C rs369154092 0.00002
NM_000321.3(RB1):c.2670T>C (p.His890=) rs758547395 0.00002
NM_000321.3(RB1):c.2714-7T>C rs751697681 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.539+12A>G rs374509447 0.00002
NM_000321.3(RB1):c.608-7T>G rs746360576 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.861+16G>T rs756590822 0.00002
NM_000321.3(RB1):c.897T>A (p.Phe299Leu) rs772362181 0.00002
NM_000321.3(RB1):c.939+13G>A rs754419372 0.00002
NM_000321.3(RB1):c.*1544T>C rs886050285 0.00001
NM_000321.3(RB1):c.*573A>G rs1450335586 0.00001
NM_000321.3(RB1):c.-149G>T rs1014776340 0.00001
NM_000321.3(RB1):c.-81G>A rs886050267 0.00001
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.104A>T (p.Gln35Leu) rs1480581747 0.00001
NM_000321.3(RB1):c.1050-11T>C rs201410490 0.00001
NM_000321.3(RB1):c.1067C>T (p.Thr356Ile) rs774525913 0.00001
NM_000321.3(RB1):c.1069C>T (p.Pro357Ser) rs568421803 0.00001
NM_000321.3(RB1):c.1073G>A (p.Arg358Gln) rs767011440 0.00001
NM_000321.3(RB1):c.1085T>C (p.Leu362Pro) rs1566194740 0.00001
NM_000321.3(RB1):c.1093G>A (p.Glu365Lys) rs1270702085 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.1128-6C>T rs1566196389 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.11A>G (p.Lys4Arg) rs1371181708 0.00001
NM_000321.3(RB1):c.1206C>T (p.Ser402=) rs752679968 0.00001
NM_000321.3(RB1):c.1215+10A>G rs746116477 0.00001
NM_000321.3(RB1):c.1215+12A>G rs145725575 0.00001
NM_000321.3(RB1):c.1215+17A>G rs1214049993 0.00001
NM_000321.3(RB1):c.1215+3A>G rs1254191370 0.00001
NM_000321.3(RB1):c.1216-6C>T rs1453083586 0.00001
NM_000321.3(RB1):c.1216-7C>T rs563642809 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.1332+11T>A rs769231663 0.00001
NM_000321.3(RB1):c.1332+14A>G rs775013695 0.00001
NM_000321.3(RB1):c.1333-16T>C rs1473909228 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.1361A>G (p.Tyr454Cys) rs1281607292 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.137+12G>A rs574145040 0.00001
NM_000321.3(RB1):c.137+19C>T rs999325303 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.1389+15A>G rs1211181689 0.00001
NM_000321.3(RB1):c.1389+18T>C rs768140640 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.1400G>A (p.Arg467Gln) rs1948519905 0.00001
NM_000321.3(RB1):c.1406C>T (p.Ser469Phe) rs1243796201 0.00001
NM_000321.3(RB1):c.1408A>C (p.Ile470Leu) rs139960834 0.00001
NM_000321.3(RB1):c.1421+6T>C rs768192190 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.1489A>G (p.Thr497Ala) rs776531398 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.1499-10T>C rs778605641 0.00001
NM_000321.3(RB1):c.1499-17T>C rs1948532675 0.00001
NM_000321.3(RB1):c.1499-8A>G rs1555286676 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.1696-7C>T rs180742027 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.175G>C (p.Ala59Pro) rs184754468 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.1780C>T (p.Leu594Phe) rs1361971661 0.00001
NM_000321.3(RB1):c.1815-13T>C rs1285467120 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.1840A>G (p.Lys614Glu) rs751060248 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.1961-7C>T rs371894780 0.00001
NM_000321.3(RB1):c.1976A>G (p.Tyr659Cys) rs751799266 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.2029G>A (p.Glu677Lys) rs1060503067 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.2058C>T (p.His686=) rs748484148 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.2107-12T>C rs1399272353 0.00001
NM_000321.3(RB1):c.2107-13A>C rs773509289 0.00001
NM_000321.3(RB1):c.2107-14A>G rs768316228 0.00001
NM_000321.3(RB1):c.2107-15C>A rs762781001 0.00001
NM_000321.3(RB1):c.2107-17A>T rs775406051 0.00001
NM_000321.3(RB1):c.2127T>C (p.Tyr709=) rs1484231598 0.00001
NM_000321.3(RB1):c.213A>T (p.Arg71Ser) rs1326990660 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.2211+17A>G rs758845850 0.00001
NM_000321.3(RB1):c.2211+7A>G rs753912415 0.00001
NM_000321.3(RB1):c.2212-16_2212-15insTA rs778124313 0.00001
NM_000321.3(RB1):c.2242G>A (p.Glu748Lys) rs121913297 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.2289A>T (p.Arg763Ser) rs1167280920 0.00001
NM_000321.3(RB1):c.2290C>G (p.Leu764Val) rs138637932 0.00001
NM_000321.3(RB1):c.2310G>C (p.Gln770His) rs777040395 0.00001
NM_000321.3(RB1):c.2318C>T (p.Ser773Phe) rs267603841 0.00001
NM_000321.3(RB1):c.2325+17C>T rs774913854 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.2394G>T (p.Arg798=) rs1178103435 0.00001
NM_000321.3(RB1):c.2418T>G (p.Ile806Met) rs1368593116 0.00001
NM_000321.3(RB1):c.2436A>G (p.Pro812=) rs1276641790 0.00001
NM_000321.3(RB1):c.2489+7G>A rs752607904 0.00001
NM_000321.3(RB1):c.2490-4A>G rs372449026 0.00001
NM_000321.3(RB1):c.2517C>T (p.Phe839=) rs759188465 0.00001
NM_000321.3(RB1):c.2520+14T>G rs752189708 0.00001
NM_000321.3(RB1):c.2520+18A>G rs1403681311 0.00001
NM_000321.3(RB1):c.2521-18G>T rs748294918 0.00001
NM_000321.3(RB1):c.2521-7T>A rs371150038 0.00001
NM_000321.3(RB1):c.2536C>T (p.Gln846Ter) rs1231557654 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.2623C>T (p.Leu875=) rs1381671623 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.2663+10A>G rs1179685157 0.00001
NM_000321.3(RB1):c.2663+18A>G rs781533642 0.00001
NM_000321.3(RB1):c.2663+8C>G rs747518543 0.00001
NM_000321.3(RB1):c.2694G>T (p.Gln898His) rs757275103 0.00001
NM_000321.3(RB1):c.269G>T (p.Gly90Val) rs554727080 0.00001
NM_000321.3(RB1):c.2705C>A (p.Ala902Glu) rs781740936 0.00001
NM_000321.3(RB1):c.2713+17C>A rs746335500 0.00001
NM_000321.3(RB1):c.2714-10C>T rs1060504825 0.00001
NM_000321.3(RB1):c.2714-12T>A rs759312873 0.00001
NM_000321.3(RB1):c.2714-13A>G rs370213866 0.00001
NM_000321.3(RB1):c.2714-18T>C rs140331128 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.299G>T (p.Gly100Val) rs886050268 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.364A>G (p.Lys122Glu) rs1301539544 0.00001
NM_000321.3(RB1):c.370A>G (p.Ile124Val) rs769858139 0.00001
NM_000321.3(RB1):c.380+11T>C rs774892592 0.00001
NM_000321.3(RB1):c.380+15A>G rs1293468919 0.00001
NM_000321.3(RB1):c.380+20T>C rs767961998 0.00001
NM_000321.3(RB1):c.381-11T>C rs756363252 0.00001
NM_000321.3(RB1):c.393C>G (p.Phe131Leu) rs749495284 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.501-19A>G rs1210034006 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.608-11T>C rs1158572664 0.00001
NM_000321.3(RB1):c.608-13A>T rs751643356 0.00001
NM_000321.3(RB1):c.608-16T>A rs936403247 0.00001
NM_000321.3(RB1):c.608-17G>A rs1186097725 0.00001
NM_000321.3(RB1):c.608-9T>G rs781780669 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.63G>A (p.Pro21=) rs1313614748 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.718+12A>G rs535040007 0.00001
NM_000321.3(RB1):c.718+7A>G rs774694773 0.00001
NM_000321.3(RB1):c.71C>T (p.Pro24Leu) rs1285455572 0.00001
NM_000321.3(RB1):c.73C>T (p.Pro25Ser) rs1566174119 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.782C>T (p.Ala261Val) rs776307088 0.00001
NM_000321.3(RB1):c.783A>G (p.Ala261=) rs759311626 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.861+6T>C rs373380507 0.00001
NM_000321.3(RB1):c.862-8T>C rs745767704 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.939+12G>A rs1214700401 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.98C>G (p.Pro33Arg) rs1201977804 0.00001
NM_000321.3(RB1):c.999A>C (p.Ala333=) rs1254874409 0.00001
NC_000013.10:g.(?_48877837)_(48881552_?)del
NC_000013.10:g.(?_48878039)_(48919345_?)del
NC_000013.10:g.(?_48881406)_(48955589_?)dup
NC_000013.10:g.(?_48916725)_(48922009_?)del
NC_000013.10:g.(?_48916729)_(48942746_?)dup
NC_000013.10:g.(?_48919196)_(48955599_?)del
NC_000013.10:g.(?_48919206)_(48923169_?)del
NC_000013.10:g.(?_48921946)_(48922009_?)del
NC_000013.10:g.(?_48937921)_(48942750_?)del
NC_000013.10:g.(?_48939020)_(48939117_?)del
NC_000013.10:g.(?_48947531)_(48947691_?)del
NC_000013.10:g.(?_48947531)_(48955589_?)del
NC_000013.10:g.(?_48951044)_(48955589_?)del
NC_000013.10:g.(?_48953724)_(48955585_?)del
NC_000013.10:g.(?_48953730)_(48954377_?)del
NC_000013.10:g.(?_48954189)_(48954377_?)del
NC_000013.10:g.(?_49027115)_(49047536_?)dup
NC_000013.10:g.(?_49027115)_(49054207_?)del
NC_000013.10:g.(?_49027115)_(49054207_?)dup
NC_000013.10:g.(?_49039232)_(49040694_?)del
NC_000013.10:g.(?_49046098)_(49047536_?)del
NC_000013.10:g.(?_49046098)_(49054207_?)del
NC_000013.10:g.(?_49046098)_(49054207_?)dup
NC_000013.11:g.(?_48303701)_(48304059_?)del
NC_000013.11:g.(?_48307270)_(48349033_?)del
NC_000013.11:g.(?_48307274)_(48349029_?)del
NC_000013.11:g.(?_48342589)_(48345209_?)del
NC_000013.11:g.(?_48342589)_(48368614_?)del
NC_000013.11:g.(?_48342599)_(48345199_?)del
NC_000013.11:g.(?_48345070)_(48345209_?)del
NC_000013.11:g.(?_48345074)_(48345205_?)del
NC_000013.11:g.(?_48360007)_(48368614_?)del
NC_000013.11:g.(?_48376908)_(48380094_?)del
NC_000013.11:g.(?_48379594)_(48381443_?)del
NC_000013.11:g.(?_48452979)_(48465378_?)dup
NC_000013.11:g.(?_48452983)_(48465378_?)dup
NC_000013.11:g.(?_48452983)_(48480081_?)del
NC_000013.11:g.(?_48459678)_(48459843_?)del
NC_000013.11:g.(?_48464992)_(48465374_?)del
NC_000013.11:g.(?_48476691)_(48477414_?)del
NC_000013.11:g.48303711G>A
NC_000013.11:g.48303712G>T
NC_000013.11:g.48303714_48303721del rs2138025968
NC_000013.11:g.48303740A>T
NC_000013.11:g.48303741C>T
NC_000013.11:g.48303742G>A
NC_000013.11:g.48303745G>A
NC_000013.11:g.48360019del
NC_000013.11:g.48464999_48465023del rs2138344503
NG_009009.1:g.154289dupA rs1566233014
NG_009009.1:g.5168-?_5303+?(2)
NM_000321.2(RB1):c.-165C>T
NM_000321.2(RB1):c.-189G>T rs387906520
NM_000321.2(RB1):c.-198G>A rs387906521
NM_000321.2(RB1):c.2450_2453delinsTTT (p.Glu817fs) rs1555294626
NM_000321.3(RB1):c.*1268G>A rs571383547
NM_000321.3(RB1):c.*1408C>T rs1315102846
NM_000321.3(RB1):c.*1459T>C rs886050284
NM_000321.3(RB1):c.*1540A>G rs768155412
NM_000321.3(RB1):c.*1635T>A rs886050286
NM_000321.3(RB1):c.*249G>T rs1949530910
NM_000321.3(RB1):c.*392T>G rs1949531949
NM_000321.3(RB1):c.*398G>T rs886050274
NM_000321.3(RB1):c.*413T>G rs886050275
NM_000321.3(RB1):c.*435A>G rs886050276
NM_000321.3(RB1):c.*444ATCT[1] rs746086958
NM_000321.3(RB1):c.*512A>C rs886050278
NM_000321.3(RB1):c.*604A>T rs886050279
NM_000321.3(RB1):c.*673G>T rs886050280
NM_000321.3(RB1):c.*788C>A rs886050281
NM_000321.3(RB1):c.*998G>A rs886050282
NM_000321.3(RB1):c.-100A>T rs1952049790
NM_000321.3(RB1):c.-121G>A
NM_000321.3(RB1):c.-123G>A
NM_000321.3(RB1):c.-125A>G
NM_000321.3(RB1):c.-125A>T
NM_000321.3(RB1):c.-126C>T
NM_000321.3(RB1):c.-128C>G
NM_000321.3(RB1):c.-134G>T
NM_000321.3(RB1):c.-147G>A
NM_000321.3(RB1):c.-152C>T
NM_000321.3(RB1):c.-153G>T rs886050266
NM_000321.3(RB1):c.-155G>C rs1952049136
NM_000321.3(RB1):c.-156C>A rs886050265
NM_000321.3(RB1):c.-157C>G
NM_000321.3(RB1):c.-158G>A
NM_000321.3(RB1):c.-15C>G
NM_000321.3(RB1):c.-15C>T
NM_000321.3(RB1):c.-160T>C
NM_000321.3(RB1):c.-29C>G
NM_000321.3(RB1):c.-2_8del (p.Met1fs)
NM_000321.3(RB1):c.-37C>A
NM_000321.3(RB1):c.-48C>T
NM_000321.3(RB1):c.-4C>T
NM_000321.3(RB1):c.-65T>G
NM_000321.3(RB1):c.-72C>T
NM_000321.3(RB1):c.-76G>T
NM_000321.3(RB1):c.-78del
NM_000321.3(RB1):c.-79G>A
NM_000321.3(RB1):c.-80G>A
NM_000321.3(RB1):c.-85G>C
NM_000321.3(RB1):c.-98G>A
NM_000321.3(RB1):c.1002del (p.Arg334fs) rs1593448449
NM_000321.3(RB1):c.1005A>G (p.Leu335=)
NM_000321.3(RB1):c.1005del (p.Leu335fs)
NM_000321.3(RB1):c.1007T>G (p.Phe336Cys)
NM_000321.3(RB1):c.100G>C (p.Glu34Gln) rs2138027798
NM_000321.3(RB1):c.100G>T (p.Glu34Ter) rs2138027798
NM_000321.3(RB1):c.1010T>G (p.Leu337Trp)
NM_000321.3(RB1):c.1016A>G (p.His339Arg) rs1566194383
NM_000321.3(RB1):c.1017T>C (p.His339=) rs1161993720
NM_000321.3(RB1):c.1020T>A (p.Asp340Glu)
NM_000321.3(RB1):c.1021A>T (p.Lys341Ter) rs587778855
NM_000321.3(RB1):c.1022A>G (p.Lys341Arg) rs1393042716
NM_000321.3(RB1):c.1023A>T (p.Lys341Asn) rs2138121417
NM_000321.3(RB1):c.1024del (p.Thr342fs) rs587778844
NM_000321.3(RB1):c.1025C>T (p.Thr342Ile)
NM_000321.3(RB1):c.102G>C (p.Glu34Asp) rs1952054573
NM_000321.3(RB1):c.1031A>G (p.Gln344Arg) rs1566194400
NM_000321.3(RB1):c.1031_1034del (p.Gln344fs) rs2138121452
NM_000321.3(RB1):c.1035T>G (p.Thr345=) rs2138121485
NM_000321.3(RB1):c.1036G>C (p.Asp346His) rs2138121489
NM_000321.3(RB1):c.1037A>C (p.Asp346Ala) rs1566194403
NM_000321.3(RB1):c.1039dup (p.Ser347fs)
NM_000321.3(RB1):c.103C>G (p.Gln35Glu)
NM_000321.3(RB1):c.103C>T (p.Gln35Ter) rs587778869
NM_000321.3(RB1):c.1041T>A (p.Ser347=) rs1354204219
NM_000321.3(RB1):c.1043T>C (p.Ile348Thr) rs1295421967
NM_000321.3(RB1):c.1047C>G (p.Asp349Glu)
NM_000321.3(RB1):c.1047C>T (p.Asp349=)
NM_000321.3(RB1):c.1048A>T (p.Ser350Cys)
NM_000321.3(RB1):c.1049+11T>G
NM_000321.3(RB1):c.1049+15A>G
NM_000321.3(RB1):c.1049+18T>C rs2138121610
NM_000321.3(RB1):c.1049+1G>A rs587776782
NM_000321.3(RB1):c.1049+1G>T rs587776782
NM_000321.3(RB1):c.1049+2T>A rs41287453
NM_000321.3(RB1):c.1049+3A>G rs1566194415
NM_000321.3(RB1):c.1049+5T>G rs1593448511
NM_000321.3(RB1):c.1049+7C>A rs1301800960
NM_000321.3(RB1):c.1049+8A>C
NM_000321.3(RB1):c.1049+8A>G
NM_000321.3(RB1):c.1050-11T>G
NM_000321.3(RB1):c.1050-15C>T rs776037881
NM_000321.3(RB1):c.1050-17C>T
NM_000321.3(RB1):c.1050-20C>G
NM_000321.3(RB1):c.1050-5T>C
NM_000321.3(RB1):c.1050-6A>T rs2138123102
NM_000321.3(RB1):c.1050-8_1050-2del rs2138123098
NM_000321.3(RB1):c.1050-9G>A
NM_000321.3(RB1):c.1050-9_1050-7del rs2138123077
NM_000321.3(RB1):c.1050T>G (p.Ser350Arg)
NM_000321.3(RB1):c.1051T>G (p.Phe351Val)
NM_000321.3(RB1):c.1053del (p.Phe351fs) rs1952726441
NM_000321.3(RB1):c.1054G>C (p.Glu352Gln)
NM_000321.3(RB1):c.1054del (p.Glu352fs) rs1952726482
NM_000321.3(RB1):c.1057A>G (p.Thr353Ala)
NM_000321.3(RB1):c.1060_1061del (p.Gln354fs) rs587778829
NM_000321.3(RB1):c.1061A>C (p.Gln354Pro)
NM_000321.3(RB1):c.1063A>C (p.Arg355=)
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.1068A>T (p.Thr356=)
NM_000321.3(RB1):c.1069C>A (p.Pro357Thr)
NM_000321.3(RB1):c.106G>C (p.Asp36His)
NM_000321.3(RB1):c.1072C>G (p.Arg358Gly) rs121913301
NM_000321.3(RB1):c.1072C>T (p.Arg358Ter) rs121913301
NM_000321.3(RB1):c.107A>G (p.Asp36Gly) rs2138027852
NM_000321.3(RB1):c.1080T>G (p.Ser360Arg) rs1198811715
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.108C>T (p.Asp36=) rs2138027862
NM_000321.3(RB1):c.1093G>C (p.Glu365Gln) rs1270702085
NM_000321.3(RB1):c.1096G>A (p.Val366Met) rs1952727256
NM_000321.3(RB1):c.1098G>A (p.Val366=)
NM_000321.3(RB1):c.109A>C (p.Ser37Arg) rs896487590
NM_000321.3(RB1):c.109dup (p.Ser37fs)
NM_000321.3(RB1):c.1101T>C (p.Asn367=) rs2138123377
NM_000321.3(RB1):c.1102G>A (p.Val368Ile) rs1049721
NM_000321.3(RB1):c.1102G>T (p.Val368Leu) rs1049721
NM_000321.3(RB1):c.1104A>T (p.Val368=) rs2138123394
NM_000321.3(RB1):c.1107T>C (p.Ile369=) rs587778856
NM_000321.3(RB1):c.1108C>T (p.Pro370Ser) rs1168863456
NM_000321.3(RB1):c.110_122del (p.Ser37fs)
NM_000321.3(RB1):c.1110T>G (p.Pro370=) rs2138123414
NM_000321.3(RB1):c.1111C>T (p.Pro371Ser) rs1952727399
NM_000321.3(RB1):c.1113A>G (p.Pro371=) rs2138123437
NM_000321.3(RB1):c.1115A>T (p.His372Leu) rs1015497370
NM_000321.3(RB1):c.1117A>T (p.Thr373Ser) rs1952727463
NM_000321.3(RB1):c.1119T>C (p.Thr373=) rs1593449062
NM_000321.3(RB1):c.111C>A (p.Ser37Arg)
NM_000321.3(RB1):c.111C>T (p.Ser37=) rs1411090163
NM_000321.3(RB1):c.1122A>G (p.Pro374=)
NM_000321.3(RB1):c.1123G>C (p.Val375Leu) rs1952727557
NM_000321.3(RB1):c.1126A>G (p.Arg376Gly) rs1952727580
NM_000321.3(RB1):c.1127+12C>T
NM_000321.3(RB1):c.1127+16del rs2138123576
NM_000321.3(RB1):c.1127+17T>C rs1183838675
NM_000321.3(RB1):c.1127+18T>C
NM_000321.3(RB1):c.1127+20T>C
NM_000321.3(RB1):c.1127+20del rs1952727808
NM_000321.3(RB1):c.1127+5G>A
NM_000321.3(RB1):c.1127+7A>G rs1952727668
NM_000321.3(RB1):c.1127G>A (p.Arg376Lys) rs1952727608
NM_000321.3(RB1):c.1128-11A>G
NM_000321.3(RB1):c.1128-15T>A
NM_000321.3(RB1):c.1128-17A>G
NM_000321.3(RB1):c.1128-18T>A
NM_000321.3(RB1):c.1128-18T>G
NM_000321.3(RB1):c.1128-19C>A
NM_000321.3(RB1):c.1128-19C>T rs2138130759
NM_000321.3(RB1):c.1128-1G>A rs2138130852
NM_000321.3(RB1):c.1128-2A>T
NM_000321.3(RB1):c.1128-3T>C rs2138130844
NM_000321.3(RB1):c.1128-45C>T rs1285629437
NM_000321.3(RB1):c.1128-4C>T rs2138130838
NM_000321.3(RB1):c.1128-5T>C rs2138130820
NM_000321.3(RB1):c.1128-7C>G
NM_000321.3(RB1):c.1128-8C>T
NM_000321.3(RB1):c.1128-9C>T rs1205440981
NM_000321.3(RB1):c.1131T>C (p.Thr377=) rs1414284893
NM_000321.3(RB1):c.1131del (p.Val378fs)
NM_000321.3(RB1):c.1132G>A (p.Val378Ile)
NM_000321.3(RB1):c.113_115delinsCT (p.Gly38fs) rs886037649
NM_000321.3(RB1):c.1142C>T (p.Thr381Ile)
NM_000321.3(RB1):c.1146C>A (p.Ile382=) rs2138130975
NM_000321.3(RB1):c.1147dup (p.Gln383fs) rs587778830
NM_000321.3(RB1):c.1148A>G (p.Gln383Arg) rs2138131004
NM_000321.3(RB1):c.114C>T (p.Gly38=) rs1369823342
NM_000321.3(RB1):c.1152A>G (p.Gln384=)
NM_000321.3(RB1):c.1154T>G (p.Leu385Ter) rs878853947
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.115C>A (p.Pro39Thr) rs2138027915
NM_000321.3(RB1):c.1160T>C (p.Met387Thr) rs767908749
NM_000321.3(RB1):c.1162A>C (p.Ile388Leu)
NM_000321.3(RB1):c.1162A>G (p.Ile388Val)
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.1166T>A (p.Leu389Ter) rs587778845
NM_000321.3(RB1):c.1166dup (p.Leu389fs) rs2138131106
NM_000321.3(RB1):c.1167A>C (p.Leu389Phe) rs1952784310
NM_000321.3(RB1):c.1168A>C (p.Asn390His)
NM_000321.3(RB1):c.116C>G (p.Pro39Arg)
NM_000321.3(RB1):c.1171T>A (p.Ser391Thr)
NM_000321.3(RB1):c.1172C>G (p.Ser391Ter)
NM_000321.3(RB1):c.1172C>T (p.Ser391Leu) rs2138131143
NM_000321.3(RB1):c.1175C>G (p.Ala392Gly)
NM_000321.3(RB1):c.1178G>A (p.Ser393Asn)
NM_000321.3(RB1):c.1183C>T (p.Gln395Ter) rs1566196458
NM_000321.3(RB1):c.1186C>T (p.Pro396Ser)
NM_000321.3(RB1):c.1189T>G (p.Ser397Ala)
NM_000321.3(RB1):c.118G>A (p.Glu40Lys) rs1593412262
NM_000321.3(RB1):c.118G>T (p.Glu40Ter) rs1593412262
NM_000321.3(RB1):c.1190C>A (p.Ser397Ter)
NM_000321.3(RB1):c.1191A>G (p.Ser397=)
NM_000321.3(RB1):c.1191del (p.Glu398fs) rs727504121
NM_000321.3(RB1):c.1195A>G (p.Asn399Asp) rs2138131269
NM_000321.3(RB1):c.1198C>T (p.Leu400=) rs535576919
NM_000321.3(RB1):c.1199T>C (p.Leu400Pro) rs2138131298
NM_000321.3(RB1):c.119A>G (p.Glu40Gly)
NM_000321.3(RB1):c.1201A>T (p.Ile401Phe)
NM_000321.3(RB1):c.1204T>C (p.Ser402Pro)
NM_000321.3(RB1):c.1205C>G (p.Ser402Cys) rs2138131310
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>A (p.Tyr403Asn) rs2138131325
NM_000321.3(RB1):c.1208A>G (p.Tyr403Cys)
NM_000321.3(RB1):c.1215+15A>G rs1367804076
NM_000321.3(RB1):c.1215+16A>G
NM_000321.3(RB1):c.1215+1G>A rs587776783
NM_000321.3(RB1):c.1215+25_1215+28del rs937437635
NM_000321.3(RB1):c.1215+2T>A
NM_000321.3(RB1):c.1215+2T>C rs1060503074
NM_000321.3(RB1):c.1215+2T>G rs1060503074
NM_000321.3(RB1):c.1215+5G>A
NM_000321.3(RB1):c.1215+7C>T rs1952785055
NM_000321.3(RB1):c.1215+8A>G rs2138131392
NM_000321.3(RB1):c.1215+9T>C rs2138131396
NM_000321.3(RB1):c.1216-10C>T rs1060504823
NM_000321.3(RB1):c.1216-11A>C rs986173926
NM_000321.3(RB1):c.1216-11A>G
NM_000321.3(RB1):c.1216-17_1216-16delinsTG
NM_000321.3(RB1):c.1216-1G>A rs587778831
NM_000321.3(RB1):c.1216-2A>G rs1593453973
NM_000321.3(RB1):c.1216-8T>C rs1218088810
NM_000321.3(RB1):c.1216-9C>A rs1593453956
NM_000321.3(RB1):c.1216-9C>G rs1593453956
NM_000321.3(RB1):c.1216-9C>T rs1593453956
NM_000321.3(RB1):c.1218C>G (p.Asn406Lys)
NM_000321.3(RB1):c.1218C>T (p.Asn406=) rs1593453983
NM_000321.3(RB1):c.1219T>C (p.Cys407Arg)
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.1221C>T (p.Cys407=) rs756329704
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.1230T>A (p.Asn410Lys)
NM_000321.3(RB1):c.1231C>A (p.Pro411Thr) rs2138136242
NM_000321.3(RB1):c.1233A>G (p.Pro411=) rs754078025
NM_000321.3(RB1):c.1234A>G (p.Lys412Glu)
NM_000321.3(RB1):c.1236A>C (p.Lys412Asn)
NM_000321.3(RB1):c.1237G>T (p.Glu413Ter) rs2138136261
NM_000321.3(RB1):c.1238A>C (p.Glu413Ala) rs1462517568
NM_000321.3(RB1):c.1239A>G (p.Glu413=) rs2138136281
NM_000321.3(RB1):c.1239_1240del (p.Ser414fs) rs1555286220
NM_000321.3(RB1):c.1241G>A (p.Ser414Asn) rs1952831176
NM_000321.3(RB1):c.1243A>G (p.Ile415Val) rs1346693507
NM_000321.3(RB1):c.1245A>G (p.Ile415Met)
NM_000321.3(RB1):c.1247T>C (p.Leu416Pro)
NM_000321.3(RB1):c.1247del (p.Leu416fs) rs2138136325
NM_000321.3(RB1):c.124C>A (p.Leu42Met) rs1312883856
NM_000321.3(RB1):c.124C>G (p.Leu42Val) rs1312883856
NM_000321.3(RB1):c.1250A>G (p.Lys417Arg)
NM_000321.3(RB1):c.1251A>G (p.Lys417=)
NM_000321.3(RB1):c.1253G>A (p.Arg418Lys) rs1952831579
NM_000321.3(RB1):c.1257del (p.Lys420fs) rs1952831606
NM_000321.3(RB1):c.1258A>G (p.Lys420Glu)
NM_000321.3(RB1):c.1259A>G (p.Lys420Arg) rs2138136389
NM_000321.3(RB1):c.125T>A (p.Leu42Gln) rs1593412272
NM_000321.3(RB1):c.125T>C (p.Leu42Pro) rs1593412272
NM_000321.3(RB1):c.1266A>G (p.Ile422Met)
NM_000321.3(RB1):c.1267G>A (p.Gly423Arg) rs2138136425
NM_000321.3(RB1):c.1272C>T (p.Tyr424=) rs2138136448
NM_000321.3(RB1):c.1274T>A (p.Ile425Asn) rs1464633359
NM_000321.3(RB1):c.1274T>C (p.Ile425Thr)
NM_000321.3(RB1):c.1275C>G (p.Ile425Met)
NM_000321.3(RB1):c.1275_1279dup (p.Lys427fs) rs1952831740
NM_000321.3(RB1):c.1278_1279insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGCGGCGGGGCCGGCGGAAGAAGGCGGTGGCGGGGCCCTGCCCCGCTCCGGCTGTGGCGCGGCCCGCGCCCGTTCCAGGATACATCTTT (p.Lys427delinsPhePhePhePhePhePheXaaXaaXaaXaaAlaAlaGlyProAlaGluGluGlyGlyGlyGlyAlaLeuProArgSerGlyCysGlyAlaAlaArgAlaArgSerArgIleHisLeuTer)
NM_000321.3(RB1):c.1278dup (p.Lys427Ter) rs1555286236
NM_000321.3(RB1):c.1281del (p.Glu428fs) rs2138136497
NM_000321.3(RB1):c.1283A>G (p.Glu428Gly) rs1952831856
NM_000321.3(RB1):c.1284G>A (p.Glu428=) rs2138136532
NM_000321.3(RB1):c.1287A>C (p.Lys429Asn)
NM_000321.3(RB1):c.1290T>C (p.Phe430=) rs1593454066
NM_000321.3(RB1):c.1291G>A (p.Ala431Thr) rs965729205
NM_000321.3(RB1):c.1294A>G (p.Lys432Glu)
NM_000321.3(RB1):c.1294A>T (p.Lys432Ter) rs1566197747
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.1308G>A (p.Gln436=) rs1191053171
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.130C>T (p.Leu44Phe)
NM_000321.3(RB1):c.1310G>T (p.Gly437Val) rs1952832211
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.1313G>T (p.Cys438Phe) rs1952832267
NM_000321.3(RB1):c.1317C>A (p.Val439=) rs1952832303
NM_000321.3(RB1):c.1317C>G (p.Val439=) rs1952832303
NM_000321.3(RB1):c.131_132del (p.Leu44fs)
NM_000321.3(RB1):c.1322T>C (p.Ile441Thr)
NM_000321.3(RB1):c.1328C>A (p.Ser443Ter) rs1060503079
NM_000321.3(RB1):c.132C>A (p.Leu44=)
NM_000321.3(RB1):c.132C>T (p.Leu44=)
NM_000321.3(RB1):c.1330C>A (p.Gln444Lys)
NM_000321.3(RB1):c.1331A>C (p.Gln444Pro) rs2138136810
NM_000321.3(RB1):c.1331_1332dup (p.Arg445fs) rs1593454115
NM_000321.3(RB1):c.1332+15T>C rs762809210
NM_000321.3(RB1):c.1332+1G>A rs587778846
NM_000321.3(RB1):c.1332+1G>T rs587778846
NM_000321.3(RB1):c.1332+3A>T rs1952832685
NM_000321.3(RB1):c.1332+4A>G rs2138136847
NM_000321.3(RB1):c.1332+8G>A
NM_000321.3(RB1):c.1332G>A (p.Gln444=) rs1555286250
NM_000321.3(RB1):c.1332G>C (p.Gln444His) rs1555286250
NM_000321.3(RB1):c.1333-11T>C
NM_000321.3(RB1):c.1333-13T>A
NM_000321.3(RB1):c.1333-13T>C rs2138140684
NM_000321.3(RB1):c.1333-15TTTG[2] rs1201326799
NM_000321.3(RB1):c.1333-17T>A
NM_000321.3(RB1):c.1333-18del
NM_000321.3(RB1):c.1333-18dup
NM_000321.3(RB1):c.1333-1G>A rs2138140730
NM_000321.3(RB1):c.1333-1G>C rs2138140730
NM_000321.3(RB1):c.1333-2A>G rs1555286503
NM_000321.3(RB1):c.1333-4G>C
NM_000321.3(RB1):c.1333-7T>C rs1948513668
NM_000321.3(RB1):c.1333-9dup rs766968771
NM_000321.3(RB1):c.1333C>T (p.Arg445Ter) rs3092891
NM_000321.3(RB1):c.1335A>G (p.Arg445=)
NM_000321.3(RB1):c.1336T>C (p.Tyr446His) rs1948513840
NM_000321.3(RB1):c.1338C>A (p.Tyr446Ter) rs1593455621
NM_000321.3(RB1):c.1339A>T (p.Lys447Ter)
NM_000321.3(RB1):c.133G>T (p.Val45Phe)
NM_000321.3(RB1):c.1341del (p.Lys447fs)
NM_000321.3(RB1):c.1345G>A (p.Gly449Arg) rs1131690851
NM_000321.3(RB1):c.1346G>A (p.Gly449Glu)
NM_000321.3(RB1):c.1346G>T (p.Gly449Val) rs587778847
NM_000321.3(RB1):c.1346dup (p.Val450fs) rs1948513922
NM_000321.3(RB1):c.1347A>T (p.Gly449=)
NM_000321.3(RB1):c.1351C>A (p.Arg451Ser)
NM_000321.3(RB1):c.1351C>G (p.Arg451Gly)
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>A (p.Leu452Ter)
NM_000321.3(RB1):c.1355T>G (p.Leu452Trp) rs2138140900
NM_000321.3(RB1):c.1355dup (p.Leu452fs)
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.135C>T (p.Val45=) rs1952055180
NM_000321.3(RB1):c.1360_1363delinsGGAATCCATG (p.Tyr454_Arg455delinsGlyIleHisGly)
NM_000321.3(RB1):c.1360del (p.Tyr454fs) rs2138140923
NM_000321.3(RB1):c.1362C>G (p.Tyr454Ter)
NM_000321.3(RB1):c.1365A>G (p.Arg455=) rs1316896547
NM_000321.3(RB1):c.1368A>C (p.Val456=)
NM_000321.3(RB1):c.1369A>G (p.Met457Val)
NM_000321.3(RB1):c.136del (p.Arg46fs)
NM_000321.3(RB1):c.137+11A>G rs2138028169
NM_000321.3(RB1):c.137+12G>C
NM_000321.3(RB1):c.137+13A>T rs762766187
NM_000321.3(RB1):c.137+14G>A
NM_000321.3(RB1):c.137+15C>A
NM_000321.3(RB1):c.137+15C>G
NM_000321.3(RB1):c.137+15C>T rs763972315
NM_000321.3(RB1):c.137+1G>A rs1131690855
NM_000321.3(RB1):c.137+20G>A
NM_000321.3(RB1):c.137+2T>G
NM_000321.3(RB1):c.137+3G>A
NM_000321.3(RB1):c.137+4A>G rs2138028119
NM_000321.3(RB1):c.137+6C>A rs1273298763
NM_000321.3(RB1):c.137+6C>G rs1273298763
NM_000321.3(RB1):c.137+6C>T rs1273298763
NM_000321.3(RB1):c.137+7G>A
NM_000321.3(RB1):c.137+7G>T
NM_000321.3(RB1):c.1370T>C (p.Met457Thr)
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.1373A>C (p.Glu458Ala) rs1948514334
NM_000321.3(RB1):c.1376C>T (p.Ser459Phe) rs1593455667
NM_000321.3(RB1):c.137G>C (p.Arg46Thr) rs2138028088
NM_000321.3(RB1):c.138-10C>A
NM_000321.3(RB1):c.138-17T>C
NM_000321.3(RB1):c.138-19G>A
NM_000321.3(RB1):c.138-1G>A rs1593414337
NM_000321.3(RB1):c.138-2A>G
NM_000321.3(RB1):c.138-6T>C rs2138033764
NM_000321.3(RB1):c.138-8T>C rs201562657
NM_000321.3(RB1):c.138-9A>G
NM_000321.3(RB1):c.1380G>A (p.Met460Ile) rs1948514475
NM_000321.3(RB1):c.1383T>C (p.Leu461=)
NM_000321.3(RB1):c.1389+11A>C rs2138141097
NM_000321.3(RB1):c.1389+16T>C
NM_000321.3(RB1):c.1389+19A>T
NM_000321.3(RB1):c.1389+1G>C rs1060503087
NM_000321.3(RB1):c.1389+1G>T rs1060503087
NM_000321.3(RB1):c.1389+25del
NM_000321.3(RB1):c.1389+2T>A
NM_000321.3(RB1):c.1389+34G>A
NM_000321.3(RB1):c.1389+4A>T
NM_000321.3(RB1):c.1389+5G>C rs1131690859
NM_000321.3(RB1):c.1389+6T>G rs2138141082
NM_000321.3(RB1):c.1389+8A>G rs2138141087
NM_000321.3(RB1):c.1390-10T>A
NM_000321.3(RB1):c.1390-14A>G rs9535023
NM_000321.3(RB1):c.1390-2A>C rs1555286568
NM_000321.3(RB1):c.1390-2A>G rs1555286568
NM_000321.3(RB1):c.1390-3C>A
NM_000321.3(RB1):c.1390-4T>A
NM_000321.3(RB1):c.1390-7G>C rs1257995008
NM_000321.3(RB1):c.1390-9C>G rs150700378
NM_000321.3(RB1):c.1390-9_1390-8del
NM_000321.3(RB1):c.1390G>A (p.Glu464Lys)
NM_000321.3(RB1):c.1390_1392GAA[2] (p.Glu466del) rs1948519753
NM_000321.3(RB1):c.1391A>C (p.Glu464Ala)
NM_000321.3(RB1):c.1392del (p.Glu465fs) rs1948519774
NM_000321.3(RB1):c.1395A>C (p.Glu465Asp)
NM_000321.3(RB1):c.1395A>G (p.Glu465=)
NM_000321.3(RB1):c.1399C>G (p.Arg467Gly) rs398123331
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>C (p.Thr5Pro) rs898303682
NM_000321.3(RB1):c.13A>G (p.Thr5Ala) rs898303682
NM_000321.3(RB1):c.13A>T (p.Thr5Ser)
NM_000321.3(RB1):c.13del (p.Thr5fs)
NM_000321.3(RB1):c.1402T>C (p.Leu468=) rs2138142257
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.1407C>T (p.Ser469=)
NM_000321.3(RB1):c.1408A>T (p.Ile470Phe)
NM_000321.3(RB1):c.140T>G (p.Leu47Arg) rs2138033812
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.1419del (p.Phe473fs) rs1555286573
NM_000321.3(RB1):c.141T>G (p.Leu47=)
NM_000321.3(RB1):c.1421+11dup rs1222617235
NM_000321.3(RB1):c.1421+12_1421+32del rs587781256
NM_000321.3(RB1):c.1421+12_1456del rs2138142421
NM_000321.3(RB1):c.1421+13_1421+18del
NM_000321.3(RB1):c.1421+1G>C rs1131690886
NM_000321.3(RB1):c.1421+3_1421+7dup rs2138142357
NM_000321.3(RB1):c.1421+4_1421+29del rs2138142387
NM_000321.3(RB1):c.1421+5A>G
NM_000321.3(RB1):c.1421+7T>A
NM_000321.3(RB1):c.1421+7T>G rs2138142405
NM_000321.3(RB1):c.1421_1421+9delinsCTTTTAGTAAAAAATTTACTTTTAGTAAAATTTTACTTTTAGTAAAATTTTAGTAAAAATTTACTTTTAGTAAAAAA
NM_000321.3(RB1):c.1422-10T>C rs2138142660
NM_000321.3(RB1):c.1422-16T>C
NM_000321.3(RB1):c.1422-1G>A rs1461382798
NM_000321.3(RB1):c.1422-2A>G rs1395304450
NM_000321.3(RB1):c.1422-4T>G rs201554179
NM_000321.3(RB1):c.1422-6del rs1706474256
NM_000321.3(RB1):c.1422-7C>T rs1419123438
NM_000321.3(RB1):c.1422-8_1422-7insAT
NM_000321.3(RB1):c.1422-8del rs747048469
NM_000321.3(RB1):c.1422-9T>C
NM_000321.3(RB1):c.1423A>T (p.Lys475Ter)
NM_000321.3(RB1):c.1424A>G (p.Lys475Arg) rs1593456261
NM_000321.3(RB1):c.1425A>G (p.Lys475=)
NM_000321.3(RB1):c.1429C>A (p.Leu477Met)
NM_000321.3(RB1):c.1429C>T (p.Leu477=)
NM_000321.3(RB1):c.142G>T (p.Glu48Ter)
NM_000321.3(RB1):c.1434T>C (p.Asn478=) rs2138142781
NM_000321.3(RB1):c.1436A>G (p.Asp479Gly) rs2138142793
NM_000321.3(RB1):c.1436ACA[1] (p.Asn480del) rs587776788
NM_000321.3(RB1):c.1437C>T (p.Asp479=)
NM_000321.3(RB1):c.1439A>G (p.Asn480Ser) rs1555286598
NM_000321.3(RB1):c.143A>G (p.Glu48Gly) rs2138033826
NM_000321.3(RB1):c.1442T>C (p.Ile481Thr)
NM_000321.3(RB1):c.1443T>G (p.Ile481Met) rs1948522676
NM_000321.3(RB1):c.1445_1446del (p.Phe482fs) rs1566199059
NM_000321.3(RB1):c.1448A>T (p.His483Leu) rs1948522736
NM_000321.3(RB1):c.1449T>C (p.His483=)
NM_000321.3(RB1):c.1450A>G (p.Met484Val)
NM_000321.3(RB1):c.1450_1451del (p.Met484fs) rs1948522792
NM_000321.3(RB1):c.1453T>C (p.Ser485Pro) rs1948522903
NM_000321.3(RB1):c.1454C>G (p.Ser485Cys) rs1431881254
NM_000321.3(RB1):c.1454_1457del (p.Ser485fs) rs1948522929
NM_000321.3(RB1):c.1455T>C (p.Ser485=)
NM_000321.3(RB1):c.1456_1457del (p.Leu486fs) rs587778832
NM_000321.3(RB1):c.1458del (p.Leu486fs) rs1555286611
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.1467C>G (p.Cys489Trp) rs141608408
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>G (p.Ala490=) rs1213010309
NM_000321.3(RB1):c.1472T>A (p.Leu491His) rs587778848
NM_000321.3(RB1):c.1472T>C (p.Leu491Pro) rs587778848
NM_000321.3(RB1):c.1474G>A (p.Glu492Lys) rs1060503084
NM_000321.3(RB1):c.1483A>T (p.Met495Leu)
NM_000321.3(RB1):c.1493A>G (p.Tyr498Cys) rs1948523564
NM_000321.3(RB1):c.1493_1498+86del rs2138143170
NM_000321.3(RB1):c.1494T>G (p.Tyr498Ter) rs768929728
NM_000321.3(RB1):c.1496G>A (p.Ser499Asn) rs774706300
NM_000321.3(RB1):c.1497C>T (p.Ser499=) rs1593456358
NM_000321.3(RB1):c.1498+10A>C rs2138143252
NM_000321.3(RB1):c.1498+2T>G rs1948523741
NM_000321.3(RB1):c.1498+4A>G
NM_000321.3(RB1):c.1498+4A>T
NM_000321.3(RB1):c.1498+5G>A rs1566199125
NM_000321.3(RB1):c.1498+6T>A rs2138143240
NM_000321.3(RB1):c.1498+7T>G rs1421075164
NM_000321.3(RB1):c.1498+9A>T rs2138143250
NM_000321.3(RB1):c.1498A>C (p.Arg500=) rs1593456364
NM_000321.3(RB1):c.1499-10del rs148580581
NM_000321.3(RB1):c.1499-10dup rs148580581
NM_000321.3(RB1):c.1499-11_1499-10del
NM_000321.3(RB1):c.1499-18T>A
NM_000321.3(RB1):c.1499-19T>C rs1224266949
NM_000321.3(RB1):c.1499-1G>T
NM_000321.3(RB1):c.1499-21_1499-19del
NM_000321.3(RB1):c.1499-2A>C rs1258442224
NM_000321.3(RB1):c.1499-6T>C
NM_000321.3(RB1):c.1499-7T>C rs1351161278
NM_000321.3(RB1):c.1499-9C>T rs201020747
NM_000321.3(RB1):c.1499G>T (p.Arg500Ile) rs1593456939
NM_000321.3(RB1):c.1500A>C (p.Arg500Ser) rs1368944270
NM_000321.3(RB1):c.1502G>A (p.Ser501Asn) rs2138144811
NM_000321.3(RB1):c.1503T>C (p.Ser501=) rs2138144821
NM_000321.3(RB1):c.1506A>G (p.Thr502=) rs1060503081
NM_000321.3(RB1):c.1510C>T (p.Gln504Ter) rs886043247
NM_000321.3(RB1):c.1510del (p.Gln504fs) rs2138144870
NM_000321.3(RB1):c.1512_1513del (p.Asn505fs) rs1593456963
NM_000321.3(RB1):c.1514A>C (p.Asn505Thr) rs1948533141
NM_000321.3(RB1):c.1517T>C (p.Leu506Pro)
NM_000321.3(RB1):c.1518T>C (p.Leu506=)
NM_000321.3(RB1):c.1518T>G (p.Leu506=)
NM_000321.3(RB1):c.1519G>C (p.Asp507His) rs2138144909
NM_000321.3(RB1):c.1519_1523dup (p.Gly509fs) rs2138144919
NM_000321.3(RB1):c.1524del (p.Gly509fs)
NM_000321.3(RB1):c.1526G>C (p.Gly509Ala) rs1555286684
NM_000321.3(RB1):c.1527A>G (p.Gly509=) rs1948533245
NM_000321.3(RB1):c.1531G>C (p.Asp511His) rs145729675
NM_000321.3(RB1):c.1531G>T (p.Asp511Tyr)
NM_000321.3(RB1):c.1532A>G (p.Asp511Gly) rs1948533324
NM_000321.3(RB1):c.1532dup (p.Asp511fs) rs2138144988
NM_000321.3(RB1):c.1533T>A (p.Asp511Glu) rs2138144990
NM_000321.3(RB1):c.1536G>A (p.Leu512=) rs879124999
NM_000321.3(RB1):c.1536G>T (p.Leu512Phe) rs879124999
NM_000321.3(RB1):c.1537T>C (p.Ser513Pro)
NM_000321.3(RB1):c.1538C>T (p.Ser513Phe)
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.1546T>C (p.Trp516Arg) rs138201027
NM_000321.3(RB1):c.1547G>C (p.Trp516Ser) rs1555286687
NM_000321.3(RB1):c.154A>G (p.Thr52Ala)
NM_000321.3(RB1):c.1553T>C (p.Leu518Pro)
NM_000321.3(RB1):c.1554G>C (p.Leu518=)
NM_000321.3(RB1):c.1554_1561del (p.Leu518_Asn519insTer)
NM_000321.3(RB1):c.1558G>A (p.Val520Met)
NM_000321.3(RB1):c.1558G>C (p.Val520Leu)
NM_000321.3(RB1):c.155C>G (p.Thr52Arg) rs780588550
NM_000321.3(RB1):c.1561C>G (p.Leu521Val)
NM_000321.3(RB1):c.1562T>A (p.Leu521His)
NM_000321.3(RB1):c.1563T>A (p.Leu521=)
NM_000321.3(RB1):c.1564A>C (p.Asn522His)
NM_000321.3(RB1):c.1564A>G (p.Asn522Asp) rs2138145139
NM_000321.3(RB1):c.1567_1568dup (p.Leu523fs) rs1948533760
NM_000321.3(RB1):c.1568T>A (p.Leu523Ter) rs2138145156
NM_000321.3(RB1):c.1568T>G (p.Leu523Ter)
NM_000321.3(RB1):c.156A>C (p.Thr52=) rs1593414358
NM_000321.3(RB1):c.156A>T (p.Thr52=)
NM_000321.3(RB1):c.156_164del (p.Glu53_Pro55del)
NM_000321.3(RB1):c.1572del (p.Ala525fs) rs2138145163
NM_000321.3(RB1):c.1572dup (p.Ala525fs)
NM_000321.3(RB1):c.1574C>T (p.Ala525Val) rs4151539
NM_000321.3(RB1):c.1575C>G (p.Ala525=)
NM_000321.3(RB1):c.157GAA[1] (p.Glu54del) rs1952089186
NM_000321.3(RB1):c.157_158del (p.Glu53fs)
NM_000321.3(RB1):c.1581T>A (p.Asp527Glu) rs1336947639
NM_000321.3(RB1):c.1584T>C (p.Phe528=) rs2138145241
NM_000321.3(RB1):c.1584_1585insCACTT (p.Tyr529fs) rs1948533963
NM_000321.3(RB1):c.1587C>A (p.Tyr529Ter)
NM_000321.3(RB1):c.1587C>T (p.Tyr529=) rs1948534023
NM_000321.3(RB1):c.1589A>G (p.Lys530Arg) rs1948534047
NM_000321.3(RB1):c.158A>C (p.Glu53Ala)
NM_000321.3(RB1):c.1593del (p.Ile532fs) rs2138145303
NM_000321.3(RB1):c.1594A>G (p.Ile532Val)
NM_000321.3(RB1):c.1594A>T (p.Ile532Phe) rs2138145305
NM_000321.3(RB1):c.1595T>A (p.Ile532Asn) rs1566199571
NM_000321.3(RB1):c.1596C>A (p.Ile532=) rs770728170
NM_000321.3(RB1):c.1597G>A (p.Glu533Lys) rs1237070816
NM_000321.3(RB1):c.1597G>C (p.Glu533Gln) rs1237070816
NM_000321.3(RB1):c.1597G>T (p.Glu533Ter) 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.1606A>G (p.Ile536Val) rs1948534262
NM_000321.3(RB1):c.1608C>G (p.Ile536Met) rs1948534275
NM_000321.3(RB1):c.160G>T (p.Glu54Ter)
NM_000321.3(RB1):c.1619G>A (p.Gly540Asp)
NM_000321.3(RB1):c.1623del (p.Asn541_Leu542insTer)
NM_000321.3(RB1):c.1625T>A (p.Leu542Ter) rs1593457065
NM_000321.3(RB1):c.1629A>T (p.Thr543=) rs1948534428
NM_000321.3(RB1):c.1629_1630del (p.Glu545fs) rs1593457070
NM_000321.3(RB1):c.1630A>G (p.Arg544Gly)
NM_000321.3(RB1):c.1632A>T (p.Arg544Ser) rs143948310
NM_000321.3(RB1):c.1633G>C (p.Glu545Gln) rs1948534542
NM_000321.3(RB1):c.1633G>T (p.Glu545Ter) rs1948534542
NM_000321.3(RB1):c.1633_1640del (p.Glu545fs) rs1555286695
NM_000321.3(RB1):c.1635_1636del (p.Glu545fs)
NM_000321.3(RB1):c.163C>A (p.Pro55Thr)
NM_000321.3(RB1):c.163C>T (p.Pro55Ser) rs769618862
NM_000321.3(RB1):c.1645C>A (p.His549Asn) rs1050717570
NM_000321.3(RB1):c.1646A>G (p.His549Arg) rs2138145592
NM_000321.3(RB1):c.164C>G (p.Pro55Arg)
NM_000321.3(RB1):c.1650A>G (p.Leu550=)
NM_000321.3(RB1):c.1654C>T (p.Arg552Ter) rs121913303
NM_000321.3(RB1):c.1655G>T (p.Arg552Leu)
NM_000321.3(RB1):c.1657T>A (p.Cys553Ser) rs1948534757
NM_000321.3(RB1):c.1659T>A (p.Cys553Ter) rs1593457108
NM_000321.3(RB1):c.1661A>G (p.Glu554Gly)
NM_000321.3(RB1):c.1663C>T (p.His555Tyr) rs772222746
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.1667G>T (p.Arg556Leu) rs773116120
NM_000321.3(RB1):c.1668A>C (p.Arg556=)
NM_000321.3(RB1):c.1669A>C (p.Ile557Leu) rs1948534909
NM_000321.3(RB1):c.1669A>G (p.Ile557Val) rs1948534909
NM_000321.3(RB1):c.1672A>C (p.Met558Leu) rs1419550675
NM_000321.3(RB1):c.1672A>G (p.Met558Val) rs1419550675
NM_000321.3(RB1):c.1673_1674dup (p.Glu559fs) rs1555286707
NM_000321.3(RB1):c.1675G>A (p.Glu559Lys)
NM_000321.3(RB1):c.1675del (p.Glu559fs) rs2138145739
NM_000321.3(RB1):c.1678T>C (p.Ser560Pro) rs1593457138
NM_000321.3(RB1):c.1683T>G (p.Leu561=)
NM_000321.3(RB1):c.1684G>C (p.Ala562Pro) rs2138145788
NM_000321.3(RB1):c.1685C>T (p.Ala562Val) rs1948535194
NM_000321.3(RB1):c.1686dup (p.Trp563fs) rs1593457156
NM_000321.3(RB1):c.1688G>A (p.Trp563Ter) rs587778863
NM_000321.3(RB1):c.1690C>G (p.Leu564Val)
NM_000321.3(RB1):c.1690C>T (p.Leu564Phe)
NM_000321.3(RB1):c.1693T>C (p.Ser565Pro)
NM_000321.3(RB1):c.1695+11A>G
NM_000321.3(RB1):c.1695+12A>G rs2138145893
NM_000321.3(RB1):c.1695+17T>A
NM_000321.3(RB1):c.1695+1G>A rs587778857
NM_000321.3(RB1):c.1695+1G>T
NM_000321.3(RB1):c.1695+2T>G rs2138145859
NM_000321.3(RB1):c.1695+2dup rs1566199647
NM_000321.3(RB1):c.1695+4A>G rs1455944671
NM_000321.3(RB1):c.1695+5G>A
NM_000321.3(RB1):c.1695A>C (p.Ser565=) rs2138145848
NM_000321.3(RB1):c.1695A>G (p.Ser565=)
NM_000321.3(RB1):c.1696-11G>A rs1949337308
NM_000321.3(RB1):c.1696-11G>T rs1949337308
NM_000321.3(RB1):c.1696-12T>C
NM_000321.3(RB1):c.1696-12T>G rs1060503088
NM_000321.3(RB1):c.1696-14_1696-12del
NM_000321.3(RB1):c.1696-1G>A rs794727199
NM_000321.3(RB1):c.1696-2A>G rs1593529868
NM_000321.3(RB1):c.1696-3T>C
NM_000321.3(RB1):c.1696-5T>G rs1593529861
NM_000321.3(RB1):c.1696-6A>T rs1593529859
NM_000321.3(RB1):c.1696-7964C>T
NM_000321.3(RB1):c.1696-7C>G
NM_000321.3(RB1):c.1696-8T>G rs2138326906
NM_000321.3(RB1):c.1699T>C (p.Ser567Pro) rs2138326970
NM_000321.3(RB1):c.1700C>G (p.Ser567Ter)
NM_000321.3(RB1):c.1700C>T (p.Ser567Leu) rs137853292
NM_000321.3(RB1):c.1704T>G (p.Pro568=) rs1555293625
NM_000321.3(RB1):c.1706del (p.Leu569fs) rs1131690842
NM_000321.3(RB1):c.1707A>T (p.Leu569Phe) rs3092895
NM_000321.3(RB1):c.1710T>A (p.Phe570Leu)
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.1719T>A (p.Ile573=) rs1593529908
NM_000321.3(RB1):c.1720A>G (p.Lys574Glu) rs1593529910
NM_000321.3(RB1):c.1722A>G (p.Lys574=)
NM_000321.3(RB1):c.1723C>T (p.Gln575Ter) rs587778864
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.1735C>T (p.Arg579Ter) rs121913305
NM_000321.3(RB1):c.1738G>T (p.Glu580Ter) rs587778858
NM_000321.3(RB1):c.173C>G (p.Thr58Ser)
NM_000321.3(RB1):c.1742G>T (p.Gly581Val)
NM_000321.3(RB1):c.1743dup (p.Pro582fs) rs2138327123
NM_000321.3(RB1):c.1749T>G (p.Thr583=) rs913654931
NM_000321.3(RB1):c.174dup (p.Ala59fs) rs2138034025
NM_000321.3(RB1):c.1753C>A (p.His585Asn)
NM_000321.3(RB1):c.1753C>G (p.His585Asp) rs1401332173
NM_000321.3(RB1):c.1753C>T (p.His585Tyr) rs1401332173
NM_000321.3(RB1):c.1754_1755dup (p.Leu586fs) rs2138327168
NM_000321.3(RB1):c.1756C>T (p.Leu586Phe) rs2138327178
NM_000321.3(RB1):c.175G>A (p.Ala59Thr)
NM_000321.3(RB1):c.1760_1769del (p.Glu587fs) rs587776784
NM_000321.3(RB1):c.1761A>G (p.Glu587=) rs2138327198
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.1769G>T (p.Cys590Phe) rs1949338458
NM_000321.3(RB1):c.1770del (p.Pro591fs) rs1949338513
NM_000321.3(RB1):c.1772C>T (p.Pro591Leu) rs1221157259
NM_000321.3(RB1):c.1778dup (p.Asn593fs)
NM_000321.3(RB1):c.1779T>A (p.Asn593Lys) rs2138327277
NM_000321.3(RB1):c.1779T>C (p.Asn593=) rs2138327277
NM_000321.3(RB1):c.177A>G (p.Ala59=)
NM_000321.3(RB1):c.1782T>C (p.Leu594=) rs2138327293
NM_000321.3(RB1):c.1783C>T (p.Pro595Ser) rs1949338684
NM_000321.3(RB1):c.1784C>T (p.Pro595Leu)
NM_000321.3(RB1):c.1785T>A (p.Pro595=)
NM_000321.3(RB1):c.1785T>C (p.Pro595=) rs1194487890
NM_000321.3(RB1):c.1789C>A (p.Gln597Lys) rs1566233076
NM_000321.3(RB1):c.1789C>T (p.Gln597Ter) rs1566233076
NM_000321.3(RB1):c.1790A>G (p.Gln597Arg) rs1949338800
NM_000321.3(RB1):c.1796A>G (p.Asn599Ser)
NM_000321.3(RB1):c.179T>G (p.Leu60Ter)
NM_000321.3(RB1):c.17C>A (p.Pro6His) rs755482658
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.1807G>A (p.Ala603Thr) rs777791058
NM_000321.3(RB1):c.1809A>C (p.Ala603=)
NM_000321.3(RB1):c.180A>C (p.Leu60Phe) rs878853948
NM_000321.3(RB1):c.1810G>A (p.Asp604Asn) rs2138327415
NM_000321.3(RB1):c.1811A>G (p.Asp604Gly) rs1949339014
NM_000321.3(RB1):c.1812T>C (p.Asp604=) rs2138327432
NM_000321.3(RB1):c.1813A>G (p.Met605Val)
NM_000321.3(RB1):c.1814+10A>G rs2138327468
NM_000321.3(RB1):c.1814+12A>G
NM_000321.3(RB1):c.1814+14A>G
NM_000321.3(RB1):c.1814+15T>G rs1833054527
NM_000321.3(RB1):c.1814+20T>A
NM_000321.3(RB1):c.1814+3A>C rs376886420
NM_000321.3(RB1):c.1814+7A>T rs1043922072
NM_000321.3(RB1):c.1814T>C (p.Met605Thr) rs1555293654
NM_000321.3(RB1):c.1815-16C>T rs2138330901
NM_000321.3(RB1):c.1815-17C>T
NM_000321.3(RB1):c.1815-1G>C rs1593531874
NM_000321.3(RB1):c.1815-20T>C
NM_000321.3(RB1):c.1815-3T>G rs2138330949
NM_000321.3(RB1):c.1815-4C>G
NM_000321.3(RB1):c.1815-4C>T rs1593531868
NM_000321.3(RB1):c.1815-8A>C
NM_000321.3(RB1):c.1815-8A>G rs1212283121
NM_000321.3(RB1):c.1815-9T>C
NM_000321.3(RB1):c.1818T>A (p.Tyr606Ter) rs137853297
NM_000321.3(RB1):c.1823C>A (p.Ser608Tyr)
NM_000321.3(RB1):c.1823C>G (p.Ser608Cys)
NM_000321.3(RB1):c.1826C>T (p.Pro609Leu)
NM_000321.3(RB1):c.1828G>A (p.Val610Ile)
NM_000321.3(RB1):c.1828G>T (p.Val610Leu) rs762613976
NM_000321.3(RB1):c.1829T>C (p.Val610Ala) rs934931283
NM_000321.3(RB1):c.182G>A (p.Cys61Tyr) rs1593414390
NM_000321.3(RB1):c.1830A>G (p.Val610=) rs1038764979
NM_000321.3(RB1):c.1832G>A (p.Arg611Lys)
NM_000321.3(RB1):c.1836T>G (p.Ser612=) rs1949358828
NM_000321.3(RB1):c.1837C>T (p.Pro613Ser) rs1555293835
NM_000321.3(RB1):c.1838C>T (p.Pro613Leu) rs1949358874
NM_000321.3(RB1):c.1841A>G (p.Lys614Arg) rs2138331098
NM_000321.3(RB1):c.1843A>G (p.Lys615Glu)
NM_000321.3(RB1):c.1844A>G (p.Lys615Arg) rs1334513810
NM_000321.3(RB1):c.1845A>G (p.Lys615=) rs2138331112
NM_000321.3(RB1):c.1847A>G (p.Lys616Arg)
NM_000321.3(RB1):c.1848A>G (p.Lys616=)
NM_000321.3(RB1):c.1849G>C (p.Gly617Arg)
NM_000321.3(RB1):c.184C>A (p.Gln62Lys)
NM_000321.3(RB1):c.184C>T (p.Gln62Ter) rs2138034088
NM_000321.3(RB1):c.1850G>T (p.Gly617Val)
NM_000321.3(RB1):c.1851T>C (p.Gly617=) rs2138331142
NM_000321.3(RB1):c.1855A>G (p.Thr619Ala)
NM_000321.3(RB1):c.1859C>A (p.Thr620Lys) rs554834063
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.1862G>C (p.Arg621Pro)
NM_000321.3(RB1):c.1863T>A (p.Arg621=)
NM_000321.3(RB1):c.1864G>A (p.Val622Ile) rs2138331204
NM_000321.3(RB1):c.1864G>T (p.Val622Leu)
NM_000321.3(RB1):c.1865T>C (p.Val622Ala)
NM_000321.3(RB1):c.1872T>G (p.Ser624=) rs2138331230
NM_000321.3(RB1):c.1881T>C (p.Asn627=) rs2138331267
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)
NM_000321.3(RB1):c.1887_1888del (p.Glu629fs) rs2138331297
NM_000321.3(RB1):c.1889C>T (p.Thr630Ile) rs1593532012
NM_000321.3(RB1):c.1890A>G (p.Thr630=) rs1593532014
NM_000321.3(RB1):c.1890_1893del (p.Ala632fs) rs2138331328
NM_000321.3(RB1):c.1891C>T (p.Gln631Ter) rs1217977493
NM_000321.3(RB1):c.1891_1892del (p.Gln631fs)
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.1893del (p.Ala632fs)
NM_000321.3(RB1):c.1895C>A (p.Ala632Glu) rs1949359489
NM_000321.3(RB1):c.1897A>G (p.Thr633Ala)
NM_000321.3(RB1):c.1898C>A (p.Thr633Asn) rs587778641
NM_000321.3(RB1):c.18C>T (p.Pro6=) rs1017683562
NM_000321.3(RB1):c.1901C>G (p.Ser634Ter) rs1949359603
NM_000321.3(RB1):c.1903G>T (p.Ala635Ser) rs1949359622
NM_000321.3(RB1):c.1904C>G (p.Ala635Gly) rs1593532038
NM_000321.3(RB1):c.1904C>T (p.Ala635Val)
NM_000321.3(RB1):c.1905C>T (p.Ala635=) rs1593532040
NM_000321.3(RB1):c.1906T>C (p.Phe636Leu)
NM_000321.3(RB1):c.1907del (p.Phe636fs) rs587781257
NM_000321.3(RB1):c.1908C>G (p.Phe636Leu) rs2138331404
NM_000321.3(RB1):c.1908C>T (p.Phe636=) rs2138331404
NM_000321.3(RB1):c.1909C>T (p.Gln637Ter) rs587778833
NM_000321.3(RB1):c.190T>C (p.Leu64=)
NM_000321.3(RB1):c.1914C>A (p.Thr638=) rs770072166
NM_000321.3(RB1):c.1915C>T (p.Gln639Ter) rs1949359779
NM_000321.3(RB1):c.1916A>G (p.Gln639Arg) rs775880919
NM_000321.3(RB1):c.1916dup (p.Lys640fs) rs2138331459
NM_000321.3(RB1):c.1918A>C (p.Lys640Gln)
NM_000321.3(RB1):c.1919A>C (p.Lys640Thr) rs1949359821
NM_000321.3(RB1):c.191T>G (p.Leu64Ter) rs2138034131
NM_000321.3(RB1):c.1923A>C (p.Pro641=) rs1593532069
NM_000321.3(RB1):c.1924T>C (p.Leu642=) rs1949359922
NM_000321.3(RB1):c.1924T>G (p.Leu642Val) rs1949359922
NM_000321.3(RB1):c.1925T>A (p.Leu642Ter) rs587778865
NM_000321.3(RB1):c.1927A>G (p.Lys643Glu) rs587778866
NM_000321.3(RB1):c.1928_1929dup (p.Ser644fs)
NM_000321.3(RB1):c.1932T>C (p.Ser644=) rs2138331538
NM_000321.3(RB1):c.1934C>T (p.Thr645Ile) rs2138331549
NM_000321.3(RB1):c.1935C>G (p.Thr645=)
NM_000321.3(RB1):c.1936T>C (p.Ser646Pro) rs2138331564
NM_000321.3(RB1):c.1937C>G (p.Ser646Cys) rs1173892082
NM_000321.3(RB1):c.1937_1940del (p.Ser646fs) rs2138331562
NM_000321.3(RB1):c.1940T>C (p.Leu647Pro) rs2138331582
NM_000321.3(RB1):c.1940_1943del (p.Leu647fs) rs2138331576
NM_000321.3(RB1):c.1942T>A (p.Ser648Thr)
NM_000321.3(RB1):c.1943C>G (p.Ser648Ter)
NM_000321.3(RB1):c.1945C>G (p.Leu649Val)
NM_000321.3(RB1):c.1946T>C (p.Leu649Pro)
NM_000321.3(RB1):c.1946T>G (p.Leu649Arg)
NM_000321.3(RB1):c.1949_1957del (p.Phe650_Lys653delinsTer) rs587776785
NM_000321.3(RB1):c.1950_1953del (p.Phe650fs) rs1593532084
NM_000321.3(RB1):c.1959del (p.Val654fs)
NM_000321.3(RB1):c.1959dup (p.Val654fs) rs1566234123
NM_000321.3(RB1):c.1960+10T>A rs2138331743
NM_000321.3(RB1):c.1960+11G>T
NM_000321.3(RB1):c.1960+12A>G
NM_000321.3(RB1):c.1960+1316_2107-767del
NM_000321.3(RB1):c.1960+16_1960+21del
NM_000321.3(RB1):c.1960+1G>A rs1949360306
NM_000321.3(RB1):c.1960+1G>C rs1949360306
NM_000321.3(RB1):c.1960+1G>T rs1949360306
NM_000321.3(RB1):c.1960+20C>T
NM_000321.3(RB1):c.1960+2T>A
NM_000321.3(RB1):c.1960+2T>C rs587776780
NM_000321.3(RB1):c.1960+2T>G rs587776780
NM_000321.3(RB1):c.1960+3T>C rs1949360348
NM_000321.3(RB1):c.1960+5G>A rs587778871
NM_000321.3(RB1):c.1960+5G>C rs587778871
NM_000321.3(RB1):c.1960+6T>C
NM_000321.3(RB1):c.1960+6T>G rs1949360394
NM_000321.3(RB1):c.1960+8G>T rs2138331737
NM_000321.3(RB1):c.1960+9A>G rs1402321066
NM_000321.3(RB1):c.1960G>A (p.Val654Met) rs483352690
NM_000321.3(RB1):c.1960G>C (p.Val654Leu) rs483352690
NM_000321.3(RB1):c.1960_1960+1insC rs1593532101
NM_000321.3(RB1):c.1961-11T>C
NM_000321.3(RB1):c.1961-15T>C rs746388709
NM_000321.3(RB1):c.1961-17T>G
NM_000321.3(RB1):c.1961-17_1965del
NM_000321.3(RB1):c.1961-1G>T rs1949383286
NM_000321.3(RB1):c.1961-20A>G rs2138335709
NM_000321.3(RB1):c.1961-293_1987del
NM_000321.3(RB1):c.1961-2A>G
NM_000321.3(RB1):c.1961-2A>T rs587778867
NM_000321.3(RB1):c.1961-4A>C
NM_000321.3(RB1):c.1961-4A>G
NM_000321.3(RB1):c.1961-6C>A rs200501806
NM_000321.3(RB1):c.1961-9T>C rs2138335750
NM_000321.3(RB1):c.1961T>A (p.Val654Glu) rs769113950
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>A (p.Val654=)
NM_000321.3(RB1):c.1962G>T (p.Val654=) rs2138335792
NM_000321.3(RB1):c.1963T>C (p.Tyr655His)
NM_000321.3(RB1):c.1964A>G (p.Tyr655Cys) rs774196937
NM_000321.3(RB1):c.1964A>T (p.Tyr655Phe) rs774196937
NM_000321.3(RB1):c.1968G>A (p.Arg656=)
NM_000321.3(RB1):c.196A>G (p.Ile66Val) rs1952089702
NM_000321.3(RB1):c.1970dup (p.Ala658fs) rs2138335833
NM_000321.3(RB1):c.1971A>G (p.Leu657=) rs2138335837
NM_000321.3(RB1):c.1973C>A (p.Ala658Asp) rs587778834
NM_000321.3(RB1):c.1977T>C (p.Tyr659=)
NM_000321.3(RB1):c.1978_1996del (p.Leu660fs) rs1593534586
NM_000321.3(RB1):c.1980C>G (p.Leu660=) rs2138335898
NM_000321.3(RB1):c.1982G>C (p.Arg661Pro)
NM_000321.3(RB1):c.1983G>C (p.Arg661=) rs2138335926
NM_000321.3(RB1):c.1985T>A (p.Leu662Gln)
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.1993C>T (p.Leu665Phe)
NM_000321.3(RB1):c.1994T>G (p.Leu665Arg) rs483352689
NM_000321.3(RB1):c.1995T>C (p.Leu665=) rs2138335982
NM_000321.3(RB1):c.1996T>C (p.Cys666Arg) rs1949383921
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.19del (p.Arg7fs) rs1131690852
NM_000321.3(RB1):c.19dup (p.Arg7fs) rs1131690852
NM_000321.3(RB1):c.1A>T (p.Met1Leu) rs2138026940
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.2006T>C (p.Leu669Pro) rs1949384058
NM_000321.3(RB1):c.2010G>A (p.Leu670=)
NM_000321.3(RB1):c.2010G>C (p.Leu670=)
NM_000321.3(RB1):c.2013dup (p.Glu672Ter) rs2138336089
NM_000321.3(RB1):c.2016G>A (p.Glu672=) rs1555294098
NM_000321.3(RB1):c.2017C>T (p.His673Tyr)
NM_000321.3(RB1):c.2019C>G (p.His673Gln) rs1949384169
NM_000321.3(RB1):c.201A>G (p.Pro67=)
NM_000321.3(RB1):c.201A>T (p.Pro67=) rs1268550381
NM_000321.3(RB1):c.2020C>T (p.Pro674Ser) rs1949384188
NM_000321.3(RB1):c.2021C>G (p.Pro674Arg)
NM_000321.3(RB1):c.2023G>T (p.Glu675Ter) rs137853295
NM_000321.3(RB1):c.2027T>A (p.Leu676Ter) rs1566235448
NM_000321.3(RB1):c.2027T>C (p.Leu676Ser) rs1566235448
NM_000321.3(RB1):c.2027T>G (p.Leu676Ter) rs1566235448
NM_000321.3(RB1):c.2029G>T (p.Glu677Ter) rs1060503067
NM_000321.3(RB1):c.202G>A (p.Asp68Asn)
NM_000321.3(RB1):c.2030A>G (p.Glu677Gly) rs1949384321
NM_000321.3(RB1):c.2033A>G (p.His678Arg) rs201046651
NM_000321.3(RB1):c.2034dup (p.Ile679fs) rs2138336180
NM_000321.3(RB1):c.2035A>C (p.Ile679Leu)
NM_000321.3(RB1):c.2035A>G (p.Ile679Val) rs897199998
NM_000321.3(RB1):c.2035_2038dup (p.Ile680fs) rs1949384403
NM_000321.3(RB1):c.2039T>C (p.Ile680Thr) rs1949384455
NM_000321.3(RB1):c.203A>G (p.Asp68Gly) rs1952089852
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.2049T>G (p.Leu683=) rs1048847950
NM_000321.3(RB1):c.2051T>C (p.Phe684Ser)
NM_000321.3(RB1):c.2052C>T (p.Phe684=)
NM_000321.3(RB1):c.2053C>T (p.Gln685Ter) rs878853949
NM_000321.3(RB1):c.2056C>A (p.His686Asn)
NM_000321.3(RB1):c.2059A>G (p.Thr687Ala)
NM_000321.3(RB1):c.2059_2066dup (p.Asn690fs)
NM_000321.3(RB1):c.205C>G (p.His69Asp)
NM_000321.3(RB1):c.2061C>T (p.Thr687=) rs113432974
NM_000321.3(RB1):c.2062C>T (p.Leu688=)
NM_000321.3(RB1):c.2064G>A (p.Leu688=) rs1593534733
NM_000321.3(RB1):c.2065C>T (p.Gln689Ter) rs1566235470
NM_000321.3(RB1):c.2069A>G (p.Asn690Ser) rs1949384761
NM_000321.3(RB1):c.206A>G (p.His69Arg) rs776591592
NM_000321.3(RB1):c.2070T>A (p.Asn690Lys)
NM_000321.3(RB1):c.2071G>A (p.Glu691Lys) rs1593534748
NM_000321.3(RB1):c.2075A>G (p.Tyr692Cys) rs1294102595
NM_000321.3(RB1):c.2078A>T (p.Glu693Val)
NM_000321.3(RB1):c.207T>C (p.His69=) rs759594127
NM_000321.3(RB1):c.2082C>T (p.Leu694=) rs762033186
NM_000321.3(RB1):c.2084T>A (p.Met695Lys)
NM_000321.3(RB1):c.208G>A (p.Val70Ile) rs2138034226
NM_000321.3(RB1):c.2091C>T (p.Asp697=) rs3092903
NM_000321.3(RB1):c.2093G>C (p.Arg698Thr)
NM_000321.3(RB1):c.2094G>C (p.Arg698Ser) rs1131690891
NM_000321.3(RB1):c.2099dup (p.Leu700fs)
NM_000321.3(RB1):c.2101G>A (p.Asp701Asn) rs587778859
NM_000321.3(RB1):c.2106+14G>A rs760861486
NM_000321.3(RB1):c.2106+14G>T
NM_000321.3(RB1):c.2106+15C>G
NM_000321.3(RB1):c.2106+16A>T
NM_000321.3(RB1):c.2106+18T>G
NM_000321.3(RB1):c.2106+19T>A rs2138336629
NM_000321.3(RB1):c.2106+19T>G
NM_000321.3(RB1):c.2106+1G>A rs1949385207
NM_000321.3(RB1):c.2106+1G>C rs1949385207
NM_000321.3(RB1):c.2106+2T>A rs1566235515
NM_000321.3(RB1):c.2106+2T>C rs1566235515
NM_000321.3(RB1):c.2106+3A>G rs1353683992
NM_000321.3(RB1):c.2106+8A>T rs750581965
NM_000321.3(RB1):c.2107-13A>G rs773509289
NM_000321.3(RB1):c.2107-15C>T
NM_000321.3(RB1):c.2107-1G>C rs587778860
NM_000321.3(RB1):c.2107-2A>G rs1593538130
NM_000321.3(RB1):c.2107-3T>G rs1949419453
NM_000321.3(RB1):c.2113A>T (p.Met705Leu)
NM_000321.3(RB1):c.2114T>A (p.Met705Lys) rs2138342236
NM_000321.3(RB1):c.2117G>A (p.Cys706Tyr)
NM_000321.3(RB1):c.2117G>T (p.Cys706Phe) rs121913295
NM_000321.3(RB1):c.2122A>C (p.Met708Leu)
NM_000321.3(RB1):c.2122A>G (p.Met708Val)
NM_000321.3(RB1):c.2123T>C (p.Met708Thr) rs2138342287
NM_000321.3(RB1):c.2124G>A (p.Met708Ile)
NM_000321.3(RB1):c.2125_2135dup (p.Lys713fs) rs2138342284
NM_000321.3(RB1):c.2131dup (p.Ile711fs) rs1593538155
NM_000321.3(RB1):c.2133A>T (p.Ile711=) rs2138342328
NM_000321.3(RB1):c.2134T>A (p.Cys712Ser) rs137853296
NM_000321.3(RB1):c.2134T>C (p.Cys712Arg) rs137853296
NM_000321.3(RB1):c.2134T>G (p.Cys712Gly) rs137853296
NM_000321.3(RB1):c.2138_2139del (p.Lys713fs)
NM_000321.3(RB1):c.2145G>A (p.Lys715=) rs1555294515
NM_000321.3(RB1):c.2148T>C (p.Asn716=)
NM_000321.3(RB1):c.2150T>C (p.Ile717Thr)
NM_000321.3(RB1):c.2151A>G (p.Ile717Met) rs1555294518
NM_000321.3(RB1):c.2152G>C (p.Asp718His) rs2138342396
NM_000321.3(RB1):c.2152del (p.Asp718fs)
NM_000321.3(RB1):c.2154C>A (p.Asp718Glu) rs1949419727
NM_000321.3(RB1):c.2154C>T (p.Asp718=) rs1949419727
NM_000321.3(RB1):c.2155C>G (p.Leu719Val)
NM_000321.3(RB1):c.2160_2167delinsC (p.Lys720fs) rs1593538175
NM_000321.3(RB1):c.2164A>T (p.Lys722Ter) rs587778849
NM_000321.3(RB1):c.2165A>G (p.Lys722Arg)
NM_000321.3(RB1):c.2172dup (p.Val725fs) rs1566237098
NM_000321.3(RB1):c.2173_2174dup (p.Val725_Thr726insTer) rs2138342499
NM_000321.3(RB1):c.217A>G (p.Arg73Gly)
NM_000321.3(RB1):c.217_220del (p.Arg73fs)
NM_000321.3(RB1):c.217del (p.Arg73fs) rs587778840
NM_000321.3(RB1):c.2181A>C (p.Ala727=)
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>C (p.Asp730His)
NM_000321.3(RB1):c.2188_2189insTT (p.Asp730fs)
NM_000321.3(RB1):c.218G>C (p.Arg73Thr)
NM_000321.3(RB1):c.2191C>A (p.Leu731Ile) rs2138342639
NM_000321.3(RB1):c.2191C>G (p.Leu731Val) rs2138342639
NM_000321.3(RB1):c.2194C>T (p.Pro732Ser) rs2138342656
NM_000321.3(RB1):c.2194_2197del (p.Pro732fs) rs1060503075
NM_000321.3(RB1):c.2197C>T (p.His733Tyr) rs587778835
NM_000321.3(RB1):c.2198A>G (p.His733Arg) rs778503152
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.21_22insT (p.Lys8Ter)
NM_000321.3(RB1):c.2206C>T (p.Gln736Ter) rs1593538220
NM_000321.3(RB1):c.2207A>C (p.Gln736Pro) rs1372842030
NM_000321.3(RB1):c.2208G>C (p.Gln736His) rs2138342726
NM_000321.3(RB1):c.2209G>A (p.Glu737Lys)
NM_000321.3(RB1):c.2209G>T (p.Glu737Ter) rs587778868
NM_000321.3(RB1):c.220G>A (p.Ala74Thr) rs1952090208
NM_000321.3(RB1):c.220del (p.Ala74fs)
NM_000321.3(RB1):c.2211+13C>A
NM_000321.3(RB1):c.2211+16T>C rs530415853
NM_000321.3(RB1):c.2211+1G>A rs1949420231
NM_000321.3(RB1):c.2211+1G>T rs1949420231
NM_000321.3(RB1):c.2211+2T>C rs2138342748
NM_000321.3(RB1):c.2211+4G>C rs1060503076
NM_000321.3(RB1):c.2211+4G>T rs1060503076
NM_000321.3(RB1):c.2211+5G>A rs1593538236
NM_000321.3(RB1):c.2211+6T>G
NM_000321.3(RB1):c.2211+7A>T
NM_000321.3(RB1):c.2211G>A (p.Glu737=) rs587776787
NM_000321.3(RB1):c.2211G>T (p.Glu737Asp) rs587776787
NM_000321.3(RB1):c.2212-10T>C
NM_000321.3(RB1):c.2212-10T>G
NM_000321.3(RB1):c.2212-12G>C rs776987458
NM_000321.3(RB1):c.2212-12G>T rs776987458
NM_000321.3(RB1):c.2212-13T>A rs2138344431
NM_000321.3(RB1):c.2212-13_2212-12insTTTTTTTT rs1593539077
NM_000321.3(RB1):c.2212-14C>A
NM_000321.3(RB1):c.2212-14C>G
NM_000321.3(RB1):c.2212-14C>T rs80122842
NM_000321.3(RB1):c.2212-16T>C
NM_000321.3(RB1):c.2212-16dup rs553094345
NM_000321.3(RB1):c.2212-17T>A
NM_000321.3(RB1):c.2212-17_2212-16del rs553094345
NM_000321.3(RB1):c.2212-17_2212-16dup rs553094345
NM_000321.3(RB1):c.2212-18_2212-16del rs553094345
NM_000321.3(RB1):c.2212-18_2212-16dup rs553094345
NM_000321.3(RB1):c.2212-1G>A rs587776786
NM_000321.3(RB1):c.2212-1G>C rs587776786
NM_000321.3(RB1):c.2212-29_2212-16dup rs553094345
NM_000321.3(RB1):c.2212-37_2212-16dup rs553094345
NM_000321.3(RB1):c.2212-3C>G
NM_000321.3(RB1):c.2212-8T>C rs1296127483
NM_000321.3(RB1):c.2212-8T>G rs1296127483
NM_000321.3(RB1):c.2212-9C>A rs765386327
NM_000321.3(RB1):c.2212-9C>G rs765386327
NM_000321.3(RB1):c.2212-9C>T rs765386327
NM_000321.3(RB1):c.221C>G (p.Ala74Gly) rs764472420
NM_000321.3(RB1):c.2221C>A (p.Arg741Ser) rs529366765
NM_000321.3(RB1):c.2224G>C (p.Val742Leu) rs1060503083
NM_000321.3(RB1):c.2228T>C (p.Leu743Ser)
NM_000321.3(RB1):c.2228_2231dup (p.Lys745fs) rs587778836
NM_000321.3(RB1):c.222T>G (p.Ala74=)
NM_000321.3(RB1):c.2231T>G (p.Ile744Ser)
NM_000321.3(RB1):c.2233A>G (p.Lys745Glu)
NM_000321.3(RB1):c.2234A>G (p.Lys745Arg)
NM_000321.3(RB1):c.2235A>G (p.Lys745=) rs1949430328
NM_000321.3(RB1):c.2236G>C (p.Glu746Gln) rs958914211
NM_000321.3(RB1):c.2236G>T (p.Glu746Ter) rs958914211
NM_000321.3(RB1):c.2237_2241del (p.Glu746fs) rs2138344622
NM_000321.3(RB1):c.2238A>G (p.Glu746=) rs991505835
NM_000321.3(RB1):c.2238del (p.Glu747fs) rs1949430414
NM_000321.3(RB1):c.2239G>A (p.Glu747Lys) rs1593539163
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.2241G>C (p.Glu747Asp)
NM_000321.3(RB1):c.2242G>T (p.Glu748Ter) rs121913297
NM_000321.3(RB1):c.2244G>A (p.Glu748=) rs1131690911
NM_000321.3(RB1):c.2244G>C (p.Glu748Asp) rs1131690911
NM_000321.3(RB1):c.2244del (p.Glu748fs) rs587776781
NM_000321.3(RB1):c.2246A>G (p.Tyr749Cys)
NM_000321.3(RB1):c.2246_2247del (p.Glu748_Tyr749insTer) rs1949430616
NM_000321.3(RB1):c.2247T>A (p.Tyr749Ter) rs587778861
NM_000321.3(RB1):c.2247_2248insAA (p.Asp750fs) rs1555294600
NM_000321.3(RB1):c.224G>T (p.Trp75Leu)
NM_000321.3(RB1):c.2253T>A (p.Ser751=)
NM_000321.3(RB1):c.2253T>C (p.Ser751=)
NM_000321.3(RB1):c.2254A>C (p.Ile752Leu) rs1555294601
NM_000321.3(RB1):c.2254A>G (p.Ile752Val) rs1555294601
NM_000321.3(RB1):c.2260G>C (p.Val754Leu) rs587778642
NM_000321.3(RB1):c.2261T>C (p.Val754Ala)
NM_000321.3(RB1):c.2261T>G (p.Val754Gly)
NM_000321.3(RB1):c.2267_2272del (p.Tyr756_Asn757del)
NM_000321.3(RB1):c.2268T>C (p.Tyr756=) rs2138344778
NM_000321.3(RB1):c.2271C>T (p.Asn757=)
NM_000321.3(RB1):c.2279T>C (p.Phe760Ser) rs1949430890
NM_000321.3(RB1):c.227_228dup (p.Thr77Ter) rs587778824
NM_000321.3(RB1):c.2280del (p.Phe760fs) rs2138344869
NM_000321.3(RB1):c.2281A>T (p.Met761Leu)
NM_000321.3(RB1):c.2284C>A (p.Gln762Lys) rs1593539225
NM_000321.3(RB1):c.2284C>T (p.Gln762Ter) rs1593539225
NM_000321.3(RB1):c.2285A>T (p.Gln762Leu) rs1593539228
NM_000321.3(RB1):c.2286G>A (p.Gln762=)
NM_000321.3(RB1):c.2288G>A (p.Arg763Lys) rs2138344904
NM_000321.3(RB1):c.2293A>T (p.Lys765Ter) rs2138344925
NM_000321.3(RB1):c.2294A>G (p.Lys765Arg) rs2138344931
NM_000321.3(RB1):c.2294_2296del (p.Lys765del)
NM_000321.3(RB1):c.2297C>T (p.Thr766Ile) rs1949431128
NM_000321.3(RB1):c.229_232del (p.Thr77fs) rs2138034389
NM_000321.3(RB1):c.22A>G (p.Lys8Glu)
NM_000321.3(RB1):c.2308C>T (p.Gln770Ter) rs2138344987
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.2315C>T (p.Ala772Val) rs2138345026
NM_000321.3(RB1):c.2319C>T (p.Ser773=) rs2138345040
NM_000321.3(RB1):c.231T>C (p.Thr77=) rs1277146164
NM_000321.3(RB1):c.2320A>G (p.Thr774Ala) rs2138345047
NM_000321.3(RB1):c.2324G>A (p.Arg775Lys) rs1593539271
NM_000321.3(RB1):c.2325+10A>G rs763525092
NM_000321.3(RB1):c.2325+11del rs2138345110
NM_000321.3(RB1):c.2325+19T>C
NM_000321.3(RB1):c.2325+1G>A rs1131690882
NM_000321.3(RB1):c.2325+1G>C rs1131690882
NM_000321.3(RB1):c.2325+1G>T rs1131690882
NM_000321.3(RB1):c.2325+20T>C
NM_000321.3(RB1):c.2325+2T>A rs2138345077
NM_000321.3(RB1):c.2325+2T>G
NM_000321.3(RB1):c.2325+3_2325+5del rs2138345090
NM_000321.3(RB1):c.2325+4G>A rs775640888
NM_000321.3(RB1):c.2325+5G>C
NM_000321.3(RB1):c.2325+5G>T
NM_000321.3(RB1):c.2325+6T>G rs2138345102
NM_000321.3(RB1):c.2325G>T (p.Arg775Ser)
NM_000321.3(RB1):c.2326-10T>G rs2138345419
NM_000321.3(RB1):c.2326-14T>G
NM_000321.3(RB1):c.2326-17T>C
NM_000321.3(RB1):c.2326-1G>A
NM_000321.3(RB1):c.2326-2A>G rs1949432057
NM_000321.3(RB1):c.2326-4C>G rs1356053052
NM_000321.3(RB1):c.2326-4C>T
NM_000321.3(RB1):c.2326-7G>A
NM_000321.3(RB1):c.2326-8T>G rs2138345427
NM_000321.3(RB1):c.2326C>G (p.Pro776Ala)
NM_000321.3(RB1):c.2327C>A (p.Pro776His) rs912203557
NM_000321.3(RB1):c.2328C>T (p.Pro776=)
NM_000321.3(RB1):c.2331T>C (p.Pro777=) rs2138345470
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.2339C>G (p.Ser780Ter) rs1593539366
NM_000321.3(RB1):c.2340A>G (p.Ser780=)
NM_000321.3(RB1):c.2342C>T (p.Pro781Leu)
NM_000321.3(RB1):c.2343A>T (p.Pro781=)
NM_000321.3(RB1):c.2345T>C (p.Ile782Thr) rs1949432262
NM_000321.3(RB1):c.234G>A (p.Trp78Ter) rs2138034427
NM_000321.3(RB1):c.2351A>T (p.His784Leu)
NM_000321.3(RB1):c.2353A>C (p.Ile785Leu) rs2138345573
NM_000321.3(RB1):c.2353A>G (p.Ile785Val) rs2138345573
NM_000321.3(RB1):c.2357C>A (p.Pro786His)
NM_000321.3(RB1):c.2357C>T (p.Pro786Leu)
NM_000321.3(RB1):c.2359C>G (p.Arg787Gly) rs137853293
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.2361A>C (p.Arg787=)
NM_000321.3(RB1):c.2363_2384dup (p.Leu797_Arg798insGlnValSerTerProLeu) rs1593539386
NM_000321.3(RB1):c.2364C>G (p.Ser788Arg)
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.2370C>G (p.Tyr790Ter) rs794727372
NM_000321.3(RB1):c.2370_2372del (p.Tyr790_Lys791delinsTer) rs2138345650
NM_000321.3(RB1):c.2371_2372insGTGT (p.Lys791fs) rs2138345665
NM_000321.3(RB1):c.2372A>G (p.Lys791Arg) rs777670056
NM_000321.3(RB1):c.2375T>C (p.Phe792Ser) rs2138345676
NM_000321.3(RB1):c.2377C>T (p.Pro793Ser) rs947540268
NM_000321.3(RB1):c.2382T>C (p.Ser794=) rs1470919585
NM_000321.3(RB1):c.2384_2390del (p.Ser795fs) rs2138345718
NM_000321.3(RB1):c.2386C>A (p.Pro796Thr)
NM_000321.3(RB1):c.2386C>T (p.Pro796Ser)
NM_000321.3(RB1):c.2388C>T (p.Pro796=)
NM_000321.3(RB1):c.2388del (p.Leu797fs) rs869264218
NM_000321.3(RB1):c.2389T>A (p.Leu797Ile)
NM_000321.3(RB1):c.2391A>G (p.Leu797=)
NM_000321.3(RB1):c.2392C>A (p.Arg798=)
NM_000321.3(RB1):c.2397T>C (p.Ile799=) rs749392116
NM_000321.3(RB1):c.2398C>T (p.Pro800Ser) rs1949432999
NM_000321.3(RB1):c.2401G>A (p.Gly801Arg) rs2138345814
NM_000321.3(RB1):c.2401G>T (p.Gly801Ter)
NM_000321.3(RB1):c.2403del (p.Asn803fs)
NM_000321.3(RB1):c.2405_2414del (p.Gly802fs) rs1593539435
NM_000321.3(RB1):c.2406G>A (p.Gly802=) rs866638680
NM_000321.3(RB1):c.2406G>C (p.Gly802=) rs866638680
NM_000321.3(RB1):c.2408del (p.Asn803fs) rs1949433098
NM_000321.3(RB1):c.2409C>T (p.Asn803=) rs1379479714
NM_000321.3(RB1):c.240A>T (p.Lys80Asn)
NM_000321.3(RB1):c.240del (p.Val81fs)
NM_000321.3(RB1):c.2414A>G (p.Tyr805Cys)
NM_000321.3(RB1):c.2420C>G (p.Ser807Ter) rs2138345919
NM_000321.3(RB1):c.2420C>T (p.Ser807Leu)
NM_000321.3(RB1):c.2421A>G (p.Ser807=) rs2138345927
NM_000321.3(RB1):c.2424C>A (p.Pro808=)
NM_000321.3(RB1):c.2425C>T (p.Leu809=)
NM_000321.3(RB1):c.2427G>A (p.Leu809=) rs1279093123
NM_000321.3(RB1):c.2428A>T (p.Lys810Ter) rs1949433250
NM_000321.3(RB1):c.2429_2432dup (p.Ser811fs) rs2138345982
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.2432G>C (p.Ser811Thr)
NM_000321.3(RB1):c.2433T>A (p.Ser811Arg)
NM_000321.3(RB1):c.2435del (p.Pro812fs) rs1949433358
NM_000321.3(RB1):c.2438A>G (p.Tyr813Cys)
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.2447C>A (p.Ser816Ter) rs1593539493
NM_000321.3(RB1):c.2447C>G (p.Ser816Ter)
NM_000321.3(RB1):c.2449G>C (p.Glu817Gln) rs762271261
NM_000321.3(RB1):c.244T>A (p.Ser82Thr)
NM_000321.3(RB1):c.2450A>G (p.Glu817Gly) rs1949433558
NM_000321.3(RB1):c.2450_2452del (p.Glu817del)
NM_000321.3(RB1):c.2453G>A (p.Gly818Asp) rs1949433617
NM_000321.3(RB1):c.2453del (p.Gly818fs) rs587778837
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.2457G>A (p.Leu819=) rs1593539513
NM_000321.3(RB1):c.245C>A (p.Ser82Ter) rs755704180
NM_000321.3(RB1):c.245C>G (p.Ser82Ter)
NM_000321.3(RB1):c.245C>T (p.Ser82Leu)
NM_000321.3(RB1):c.2460A>T (p.Pro820=) rs1555294628
NM_000321.3(RB1):c.246A>G (p.Ser82=) rs2138034514
NM_000321.3(RB1):c.2472A>G (p.Lys824=) rs2138346192
NM_000321.3(RB1):c.2473A>G (p.Met825Val) rs2138346201
NM_000321.3(RB1):c.2473dup (p.Met825fs) rs1593539538
NM_000321.3(RB1):c.2475G>A (p.Met825Ile) rs1949433927
NM_000321.3(RB1):c.2475G>T (p.Met825Ile)
NM_000321.3(RB1):c.2479C>G (p.Pro827Ala) rs1949433950
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.2485T>A (p.Ser829Thr) rs2138346264
NM_000321.3(RB1):c.2486C>T (p.Ser829Leu)
NM_000321.3(RB1):c.2489+14C>T
NM_000321.3(RB1):c.2489+16T>G
NM_000321.3(RB1):c.2489+18A>G
NM_000321.3(RB1):c.2489+19G>T
NM_000321.3(RB1):c.2489+1G>A rs764754259
NM_000321.3(RB1):c.2489+20G>C
NM_000321.3(RB1):c.2489+2T>C rs1555294636
NM_000321.3(RB1):c.2489+4T>C
NM_000321.3(RB1):c.2489+5G>A rs1949434078
NM_000321.3(RB1):c.2489+5G>C
NM_000321.3(RB1):c.2489G>A (p.Arg830Lys)
NM_000321.3(RB1):c.248C>T (p.Ser83Phe) rs1593414429
NM_000321.3(RB1):c.2490-10A>C rs2138354548
NM_000321.3(RB1):c.2490-1398A>G rs587776791
NM_000321.3(RB1):c.2490-1530_*109del
NM_000321.3(RB1):c.2490-15A>G
NM_000321.3(RB1):c.2490-1G>A rs587778838
NM_000321.3(RB1):c.2490-1G>C
NM_000321.3(RB1):c.2490-1_2490del rs1593544647
NM_000321.3(RB1):c.2490-30A>C
NM_000321.3(RB1):c.2490-43A>G
NM_000321.3(RB1):c.2490-47G>A
NM_000321.3(RB1):c.2490-47G>C
NM_000321.3(RB1):c.2490-59C>T
NM_000321.3(RB1):c.2490-5G>A rs1593544633
NM_000321.3(RB1):c.2490-65G>A
NM_000321.3(RB1):c.2490-79A>G
NM_000321.3(RB1):c.2490-86A>G
NM_000321.3(RB1):c.2491A>C (p.Ile831Leu) rs761068783
NM_000321.3(RB1):c.2493C>A (p.Ile831=)
NM_000321.3(RB1):c.2493C>G (p.Ile831Met)
NM_000321.3(RB1):c.2493C>T (p.Ile831=)
NM_000321.3(RB1):c.2497G>A (p.Val833Ile) rs2138354621
NM_000321.3(RB1):c.2497G>C (p.Val833Leu)
NM_000321.3(RB1):c.2499A>G (p.Val833=)
NM_000321.3(RB1):c.24_61del (p.Lys8fs)
NM_000321.3(RB1):c.2501C>A (p.Ser834Ter) rs1131690906
NM_000321.3(RB1):c.2501C>T (p.Ser834Leu) 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.2512T>C (p.Ser838Pro) rs1949484337
NM_000321.3(RB1):c.2513C>G (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.2520+13T>G
NM_000321.3(RB1):c.2520+14_2520+17del rs1949484688
NM_000321.3(RB1):c.2520+15del rs2138354773
NM_000321.3(RB1):c.2520+1G>A rs587778850
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+4A>G rs1949484627
NM_000321.3(RB1):c.2520+5G>A rs1131690881
NM_000321.3(RB1):c.2520+5G>C rs1131690881
NM_000321.3(RB1):c.2520+5G>T rs1131690881
NM_000321.3(RB1):c.2520+6T>C rs2138354759
NM_000321.3(RB1):c.2520G>T (p.Gly840=) rs1949484533
NM_000321.3(RB1):c.2521-10T>A
NM_000321.3(RB1):c.2521-13C>A
NM_000321.3(RB1):c.2521-16A>T
NM_000321.3(RB1):c.2521-4G>T rs902298592
NM_000321.3(RB1):c.2522C>G (p.Thr841Ser)
NM_000321.3(RB1):c.2522C>T (p.Thr841Ile) rs1358216534
NM_000321.3(RB1):c.2523T>C (p.Thr841=) rs1566240903
NM_000321.3(RB1):c.2525_2526del (p.Thr841_Ser842insTer) rs1566240909
NM_000321.3(RB1):c.2525dup (p.Ser842_Glu843insTer) rs587778851
NM_000321.3(RB1):c.2527G>C (p.Glu843Gln) rs1566240914
NM_000321.3(RB1):c.2528A>G (p.Glu843Gly) rs1949505926
NM_000321.3(RB1):c.2528A>T (p.Glu843Val) rs1949505926
NM_000321.3(RB1):c.2533T>C (p.Phe845Leu) rs754183765
NM_000321.3(RB1):c.2535C>T (p.Phe845=)
NM_000321.3(RB1):c.2539A>G (p.Lys847Glu) rs2138358973
NM_000321.3(RB1):c.2544A>T (p.Ile848=) rs2138358986
NM_000321.3(RB1):c.254A>G (p.Asp85Gly) rs1952090656
NM_000321.3(RB1):c.2552T>C (p.Met851Thr) rs1566240932
NM_000321.3(RB1):c.2555T>G (p.Val852Gly)
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.2560A>G (p.Asn854Asp)
NM_000321.3(RB1):c.2565C>T (p.Ser855=) rs2138359118
NM_000321.3(RB1):c.2566G>C (p.Asp856His)
NM_000321.3(RB1):c.2566G>T (p.Asp856Tyr) rs149359120
NM_000321.3(RB1):c.2567A>G (p.Asp856Gly) rs1555295331
NM_000321.3(RB1):c.2568C>T (p.Asp856=)
NM_000321.3(RB1):c.2569C>T (p.Arg857Cys)
NM_000321.3(RB1):c.2570G>T (p.Arg857Leu) rs144668210
NM_000321.3(RB1):c.2571T>C (p.Arg857=)
NM_000321.3(RB1):c.2577C>T (p.Leu859=)
NM_000321.3(RB1):c.2583A>G (p.Arg861=)
NM_000321.3(RB1):c.2586T>C (p.Ser862=) rs1593547157
NM_000321.3(RB1):c.2586T>G (p.Ser862Arg) rs1593547157
NM_000321.3(RB1):c.2587G>A (p.Ala863Thr) rs1949506505
NM_000321.3(RB1):c.258A>C (p.Gly86=)
NM_000321.3(RB1):c.2590G>A (p.Glu864Lys) rs2138359266
NM_000321.3(RB1):c.2591A>G (p.Glu864Gly) rs1949506524
NM_000321.3(RB1):c.2593G>A (p.Gly865Arg) rs1949506548
NM_000321.3(RB1):c.2593G>T (p.Gly865Ter) rs1949506548
NM_000321.3(RB1):c.2593_2594delinsCA (p.Gly865Gln) rs2138359294
NM_000321.3(RB1):c.2594G>C (p.Gly865Ala)
NM_000321.3(RB1):c.2598C>A (p.Ser866Arg) rs1949506601
NM_000321.3(RB1):c.2599A>G (p.Asn867Asp) rs1949506622
NM_000321.3(RB1):c.259G>A (p.Val87Ile)
NM_000321.3(RB1):c.2601C>A (p.Asn867Lys) rs1566240970
NM_000321.3(RB1):c.2601C>G (p.Asn867Lys) rs1566240970
NM_000321.3(RB1):c.2603C>T (p.Pro868Leu) rs769539980
NM_000321.3(RB1):c.2604T>C (p.Pro868=)
NM_000321.3(RB1):c.2612C>T (p.Pro871Leu) rs1949506762
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.263T>G (p.Leu88Trp) rs1555279518
NM_000321.3(RB1):c.264+11T>C
NM_000321.3(RB1):c.264+15A>C
NM_000321.3(RB1):c.264+18dup rs750176218
NM_000321.3(RB1):c.264+1G>A rs1131690907
NM_000321.3(RB1):c.264+1G>C
NM_000321.3(RB1):c.264+1G>T rs1131690907
NM_000321.3(RB1):c.264+20G>C
NM_000321.3(RB1):c.264+5G>A rs1131690853
NM_000321.3(RB1):c.2640A>G (p.Glu880=)
NM_000321.3(RB1):c.2641G>C (p.Gly881Arg)
NM_000321.3(RB1):c.2642G>C (p.Gly881Ala) rs1949507139
NM_000321.3(RB1):c.2643A>C (p.Gly881=) rs1060504826
NM_000321.3(RB1):c.2644T>G (p.Ser882Ala)
NM_000321.3(RB1):c.2646A>G (p.Ser882=)
NM_000321.3(RB1):c.264G>C (p.Leu88Phe) rs1952090786
NM_000321.3(RB1):c.265-10T>C
NM_000321.3(RB1):c.265-13T>A rs1331450918
NM_000321.3(RB1):c.265-14T>A
NM_000321.3(RB1):c.265-15A>G
NM_000321.3(RB1):c.265-19C>G
NM_000321.3(RB1):c.265-8del rs1952455310
NM_000321.3(RB1):c.2652A>G (p.Glu884=) rs765537411
NM_000321.3(RB1):c.2654C>A (p.Ala885Glu) rs758494086
NM_000321.3(RB1):c.2655A>C (p.Ala885=)
NM_000321.3(RB1):c.2658T>C (p.Asp886=) rs1179137535
NM_000321.3(RB1):c.2659G>A (p.Gly887Arg) rs777789154
NM_000321.3(RB1):c.265G>A (p.Gly89Arg) rs1952455387
NM_000321.3(RB1):c.2660G>A (p.Gly887Glu) rs1566241021
NM_000321.3(RB1):c.2660G>C (p.Gly887Ala) rs1566241021
NM_000321.3(RB1):c.2661A>G (p.Gly887=) rs1593547275
NM_000321.3(RB1):c.2663+16G>A
NM_000321.3(RB1):c.2663+16G>T
NM_000321.3(RB1):c.2663+1G>A rs2138359672
NM_000321.3(RB1):c.2663+1G>T rs2138359672
NM_000321.3(RB1):c.2663+2T>C rs587778839
NM_000321.3(RB1):c.2663+4G>A rs1949507415
NM_000321.3(RB1):c.2663+6A>G rs2138359698
NM_000321.3(RB1):c.2663+7A>G
NM_000321.3(RB1):c.2663+8C>A rs747518543
NM_000321.3(RB1):c.2663+8C>T
NM_000321.3(RB1):c.2663+9C>A rs2138359712
NM_000321.3(RB1):c.2663+9C>G
NM_000321.3(RB1):c.2663G>A (p.Ser888Asn) rs1555295354
NM_000321.3(RB1):c.2664-10dup
NM_000321.3(RB1):c.2664-18C>T
NM_000321.3(RB1):c.2664-20T>C
NM_000321.3(RB1):c.266G>A (p.Gly89Glu) rs371655281
NM_000321.3(RB1):c.2672T>C (p.Leu891Pro)
NM_000321.3(RB1):c.2674C>T (p.Pro892Ser)
NM_000321.3(RB1):c.2675C>T (p.Pro892Leu)
NM_000321.3(RB1):c.2677G>A (p.Gly893Arg) rs1566241168
NM_000321.3(RB1):c.2678G>T (p.Gly893Val)
NM_000321.3(RB1):c.2680G>C (p.Glu894Gln)
NM_000321.3(RB1):c.2685C>G (p.Ser895=) rs2138360868
NM_000321.3(RB1):c.2687A>G (p.Lys896Arg) rs2138360885
NM_000321.3(RB1):c.2692C>T (p.Gln898Ter) rs1566241180
NM_000321.3(RB1):c.2694G>A (p.Gln898=) rs757275103
NM_000321.3(RB1):c.2697G>A (p.Gln899=)
NM_000321.3(RB1):c.26C>G (p.Thr9Arg) rs1952051803
NM_000321.3(RB1):c.26C>T (p.Thr9Met) rs1952051803
NM_000321.3(RB1):c.2704G>A (p.Ala902Thr)
NM_000321.3(RB1):c.2707G>C (p.Glu903Gln)
NM_000321.3(RB1):c.270T>C (p.Gly90=) rs1593434172
NM_000321.3(RB1):c.2712G>A (p.Met904Ile)
NM_000321.3(RB1):c.2712G>T (p.Met904Ile) rs1461167778
NM_000321.3(RB1):c.2713+12T>C
NM_000321.3(RB1):c.2713+14del rs2138361049
NM_000321.3(RB1):c.2713+16A>G
NM_000321.3(RB1):c.2713+16A>T rs1949510698
NM_000321.3(RB1):c.2713+17C>T
NM_000321.3(RB1):c.2713+18C>G
NM_000321.3(RB1):c.2713+18C>T rs1366862461
NM_000321.3(RB1):c.2713+20del rs1264547798
NM_000321.3(RB1):c.2713+7A>C rs1593547664
NM_000321.3(RB1):c.2713+9T>A rs2138361042
NM_000321.3(RB1):c.2713+9T>C rs2138361042
NM_000321.3(RB1):c.2714-14C>T
NM_000321.3(RB1):c.2714-16_2714-14del
NM_000321.3(RB1):c.2714-20G>C rs914574679
NM_000321.3(RB1):c.2714-20G>T rs914574679
NM_000321.3(RB1):c.2714-4C>G rs768351559
NM_000321.3(RB1):c.2714-4C>T rs768351559
NM_000321.3(RB1):c.2714-5del rs2138364308
NM_000321.3(RB1):c.2714-7T>G rs751697681
NM_000321.3(RB1):c.2718T>C (p.Ser906=) rs2138364350
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.272_276del (p.Tyr91fs) rs1593434175
NM_000321.3(RB1):c.2733G>T (p.Met911Ile) rs2138364425
NM_000321.3(RB1):c.2735A>G (p.Gln912Arg) rs1949528429
NM_000321.3(RB1):c.2738A>G (p.Lys913Arg) rs2138364453
NM_000321.3(RB1):c.273T>A (p.Tyr91Ter) rs750136284
NM_000321.3(RB1):c.2746A>C (p.Met916Leu) rs1949528459
NM_000321.3(RB1):c.2750A>G (p.Asn917Ser) rs1475201975
NM_000321.3(RB1):c.2751T>C (p.Asn917=)
NM_000321.3(RB1):c.2755A>G (p.Ser919Gly) rs1555295597
NM_000321.3(RB1):c.2757C>T (p.Ser919=) rs1060504824
NM_000321.3(RB1):c.2758A>G (p.Met920Val)
NM_000321.3(RB1):c.275T>G (p.Ile92Ser)
NM_000321.3(RB1):c.2760G>A (p.Met920Ile) rs1949528633
NM_000321.3(RB1):c.2761G>A (p.Asp921Asn) rs1949528654
NM_000321.3(RB1):c.2764A>G (p.Thr922Ala) rs1949528678
NM_000321.3(RB1):c.2768C>T (p.Ser923Leu) rs2138364560
NM_000321.3(RB1):c.2769A>G (p.Ser923=)
NM_000321.3(RB1):c.276T>G (p.Ile92Met) rs1555282772
NM_000321.3(RB1):c.2770A>C (p.Asn924His)
NM_000321.3(RB1):c.2772C>A (p.Asn924Lys) rs1949528716
NM_000321.3(RB1):c.2772C>T (p.Asn924=) rs1949528716
NM_000321.3(RB1):c.2774A>C (p.Lys925Thr) rs750946437
NM_000321.3(RB1):c.2777A>G (p.Glu926Gly) rs1593549718
NM_000321.3(RB1):c.2779G>A (p.Glu927Lys) rs1949528826
NM_000321.3(RB1):c.2779G>C (p.Glu927Gln) rs1949528826
NM_000321.3(RB1):c.279A>G (p.Gln93=) rs2138083552
NM_000321.3(RB1):c.283A>C (p.Lys95Gln)
NM_000321.3(RB1):c.283A>T (p.Lys95Ter) rs1555282775
NM_000321.3(RB1):c.287dup (p.Glu97fs)
NM_000321.3(RB1):c.28G>A (p.Ala10Thr)
NM_000321.3(RB1):c.291A>G (p.Glu97=) rs919345517
NM_000321.3(RB1):c.293T>C (p.Leu98Pro) rs2138083652
NM_000321.3(RB1):c.294G>A (p.Leu98=) rs2138083659
NM_000321.3(RB1):c.295_296dup (p.Trp99fs) rs1952455844
NM_000321.3(RB1):c.297G>A (p.Trp99Ter) rs794727481
NM_000321.3(RB1):c.297G>C (p.Trp99Cys)
NM_000321.3(RB1):c.297_298insA (p.Gly100fs) rs1566186087
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.305_306del (p.Cys102fs) rs587778825
NM_000321.3(RB1):c.306dup (p.Ile103fs)
NM_000321.3(RB1):c.309_312del (p.Phe104fs) rs1952456105
NM_000321.3(RB1):c.30C>T (p.Ala10=) rs530961288
NM_000321.3(RB1):c.310T>C (p.Phe104Leu)
NM_000321.3(RB1):c.317C>T (p.Ala106Val)
NM_000321.3(RB1):c.31G>T (p.Ala11Ser) rs587778852
NM_000321.3(RB1):c.321A>C (p.Ala107=) rs2138083810
NM_000321.3(RB1):c.321A>G (p.Ala107=)
NM_000321.3(RB1):c.323T>C (p.Val108Ala) rs376408183
NM_000321.3(RB1):c.328C>G (p.Leu110Val)
NM_000321.3(RB1):c.32C>G (p.Ala11Gly) rs899323337
NM_000321.3(RB1):c.32C>T (p.Ala11Val)
NM_000321.3(RB1):c.32_63del (p.Ala11fs) rs1593411974
NM_000321.3(RB1):c.331G>A (p.Asp111Asn) rs1952456285
NM_000321.3(RB1):c.334G>A (p.Glu112Lys) rs1199831823
NM_000321.3(RB1):c.336G>A (p.Glu112=)
NM_000321.3(RB1):c.337A>C (p.Met113Leu) rs1593434246
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.343T>C (p.Phe115Leu) rs1555282792
NM_000321.3(RB1):c.347C>T (p.Thr116Ile)
NM_000321.3(RB1):c.348T>C (p.Thr116=)
NM_000321.3(RB1):c.349T>C (p.Phe117Leu)
NM_000321.3(RB1):c.34A>G (p.Thr12Ala) rs1566174063
NM_000321.3(RB1):c.34_36dup (p.Thr12_Ala13insThr)
NM_000321.3(RB1):c.34_39dup (p.Ala13_Ala14insThrAla)
NM_000321.3(RB1):c.34_42del (p.9TAA[1]) rs759465865
NM_000321.3(RB1):c.34_71del (p.Thr12fs) rs2138027150
NM_000321.3(RB1):c.352A>G (p.Thr118Ala)
NM_000321.3(RB1):c.357G>A (p.Glu119=) rs1593434283
NM_000321.3(RB1):c.357G>T (p.Glu119Asp) rs1593434283
NM_000321.3(RB1):c.360A>G (p.Leu120=)
NM_000321.3(RB1):c.363G>A (p.Gln121=) rs777410222
NM_000321.3(RB1):c.368A>G (p.Asn123Ser) rs2138084066
NM_000321.3(RB1):c.36del (p.Ala13fs) rs1566174065
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>T (p.Glu125Ter) rs1952457111
NM_000321.3(RB1):c.375A>G (p.Glu125=)
NM_000321.3(RB1):c.376del (p.Ile126fs) rs886042357
NM_000321.3(RB1):c.377del (p.Ile126fs) rs2138084130
NM_000321.3(RB1):c.379A>G (p.Ser127Gly) rs775559506
NM_000321.3(RB1):c.37_65del (p.Ala13fs) rs1064792974
NM_000321.3(RB1):c.380+12T>G rs3092881
NM_000321.3(RB1):c.380+13G>A
NM_000321.3(RB1):c.380+13G>C rs1266867448
NM_000321.3(RB1):c.380+14T>C
NM_000321.3(RB1):c.380+16T>C rs1420345590
NM_000321.3(RB1):c.380+17A>G rs2138084210
NM_000321.3(RB1):c.380+1G>A rs1131690902
NM_000321.3(RB1):c.380+22_380+23del
NM_000321.3(RB1):c.380+2T>C
NM_000321.3(RB1):c.380+2T>G
NM_000321.3(RB1):c.380+3A>T rs1555282811
NM_000321.3(RB1):c.380+4A>C
NM_000321.3(RB1):c.380+5A>T rs2138084167
NM_000321.3(RB1):c.380+6G>A
NM_000321.3(RB1):c.380G>C (p.Ser127Thr) rs1131690843
NM_000321.3(RB1):c.380G>T (p.Ser127Ile) rs1131690843
NM_000321.3(RB1):c.381-12T>C
NM_000321.3(RB1):c.381-16A>C
NM_000321.3(RB1):c.381-1G>A rs1566186836
NM_000321.3(RB1):c.381-2A>G rs1952480014
NM_000321.3(RB1):c.381-2A>T rs1952480014
NM_000321.3(RB1):c.381-4G>A
NM_000321.3(RB1):c.381-4G>T
NM_000321.3(RB1):c.381T>C (p.Ser127=) rs780321508
NM_000321.3(RB1):c.382G>C (p.Val128Leu) rs1952480074
NM_000321.3(RB1):c.382G>T (p.Val128Phe)
NM_000321.3(RB1):c.383T>C (p.Val128Ala) rs1566186839
NM_000321.3(RB1):c.385C>T (p.His129Tyr) rs1952480132
NM_000321.3(RB1):c.387T>C (p.His129=)
NM_000321.3(RB1):c.387T>G (p.His129Gln) rs1593435676
NM_000321.3(RB1):c.388A>T (p.Lys130Ter) rs1566186840
NM_000321.3(RB1):c.389A>C (p.Lys130Thr) rs1593435682
NM_000321.3(RB1):c.38C>T (p.Ala13Val)
NM_000321.3(RB1):c.390del (p.Lys130fs) rs2138087163
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.394T>C (p.Phe132Leu)
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>T (p.Asn133Tyr) rs3092900
NM_000321.3(RB1):c.399C>G (p.Asn133Lys) rs765277265
NM_000321.3(RB1):c.399del (p.Leu134fs) rs2138087235
NM_000321.3(RB1):c.39C>T (p.Ala13=)
NM_000321.3(RB1):c.400T>C (p.Leu134=) rs2138087245
NM_000321.3(RB1):c.402A>G (p.Leu134=) rs1566186851
NM_000321.3(RB1):c.402dup (p.Leu135fs)
NM_000321.3(RB1):c.409G>T (p.Glu137Ter) rs121913296
NM_000321.3(RB1):c.414T>A (p.Ile138=)
NM_000321.3(RB1):c.417T>C (p.Asp139=) rs1555283135
NM_000321.3(RB1):c.417del (p.Asp139fs) rs2138087348
NM_000321.3(RB1):c.419C>A (p.Thr140Asn) rs2138087361
NM_000321.3(RB1):c.422G>A (p.Ser141Asn) rs2138087383
NM_000321.3(RB1):c.428A>C (p.Lys143Thr) rs1952480749
NM_000321.3(RB1):c.428_437del (p.Lys143fs)
NM_000321.3(RB1):c.431T>C (p.Val144Ala) rs2138087434
NM_000321.3(RB1):c.432T>C (p.Val144=) rs1593435736
NM_000321.3(RB1):c.436A>C (p.Asn146His) rs1266294051
NM_000321.3(RB1):c.438T>C (p.Asn146=)
NM_000321.3(RB1):c.438_441del (p.Asn146fs) rs587778841
NM_000321.3(RB1):c.43_65dup (p.Pro23fs) rs587776790
NM_000321.3(RB1):c.43_80del (p.Ala15fs) rs2138027218
NM_000321.3(RB1):c.43_80dup (p.Pro28fs)
NM_000321.3(RB1):c.440C>T (p.Ala147Val)
NM_000321.3(RB1):c.442A>G (p.Met148Val)
NM_000321.3(RB1):c.444G>A (p.Met148Ile)
NM_000321.3(RB1):c.446C>G (p.Ser149Ter) rs587778870
NM_000321.3(RB1):c.449G>C (p.Arg150Thr)
NM_000321.3(RB1):c.44C>G (p.Ala15Gly) rs564137727
NM_000321.3(RB1):c.450A>G (p.Arg150=)
NM_000321.3(RB1):c.451C>G (p.Leu151Val)
NM_000321.3(RB1):c.451C>T (p.Leu151=)
NM_000321.3(RB1):c.452T>A (p.Leu151Gln) rs2138087581
NM_000321.3(RB1):c.453del (p.Leu151_Leu152insTer) rs2138087597
NM_000321.3(RB1):c.459G>C (p.Lys153Asn) rs773642334
NM_000321.3(RB1):c.459del (p.Lys154fs) rs2138087628
NM_000321.3(RB1):c.45T>C (p.Ala15=)
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.45_53dup (p.Ala16_Ala18dup) rs572454921
NM_000321.3(RB1):c.45_70dup (p.Pro24fs) rs1566174074
NM_000321.3(RB1):c.45_76del (p.Ala17fs) rs1593412002
NM_000321.3(RB1):c.45_79del (p.Ala16fs) rs2138027212
NM_000321.3(RB1):c.463dup (p.Tyr155fs) rs587778854
NM_000321.3(RB1):c.465_468dup (p.Val157Ter) rs1566186889
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.469G>A (p.Val157Ile) rs2138087706
NM_000321.3(RB1):c.46_61GCC[2]GCGGAACCCCAGGCACCGCCGCCGCCGCCGCCGCGGAACCCC[1] (p.Pro21fs) rs2138027345
NM_000321.3(RB1):c.473T>A (p.Leu158Ter) rs1952481401
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.476T>G (p.Phe159Cys) rs2138087738
NM_000321.3(RB1):c.477T>A (p.Phe159Leu) rs1952481513
NM_000321.3(RB1):c.479C>T (p.Ala160Val) rs1952481610
NM_000321.3(RB1):c.480A>C (p.Ala160=)
NM_000321.3(RB1):c.480A>G (p.Ala160=) rs776484051
NM_000321.3(RB1):c.485T>A (p.Phe162Tyr) rs764881599
NM_000321.3(RB1):c.486C>T (p.Phe162=) rs2138087778
NM_000321.3(RB1):c.48C>T (p.Ala16=)
NM_000321.3(RB1):c.48CGC[1] (p.Ala18del) rs1952052800
NM_000321.3(RB1):c.493T>C (p.Leu165=)
NM_000321.3(RB1):c.495G>A (p.Leu165=) rs2138087832
NM_000321.3(RB1):c.497A>C (p.Glu166Ala)
NM_000321.3(RB1):c.497A>G (p.Glu166Gly)
NM_000321.3(RB1):c.49G>A (p.Ala17Thr) rs1566174092
NM_000321.3(RB1):c.49_80dup (p.Pro29fs)
NM_000321.3(RB1):c.4C>A (p.Pro2Thr) rs1328198608
NM_000321.3(RB1):c.500+17A>G rs1483892858
NM_000321.3(RB1):c.500+1G>T rs1131690880
NM_000321.3(RB1):c.500+2T>C rs2138087877
NM_000321.3(RB1):c.500+6_500+10del rs1328603105
NM_000321.3(RB1):c.500+8A>G
NM_000321.3(RB1):c.500G>A (p.Arg167Lys)
NM_000321.3(RB1):c.501-14G>A
NM_000321.3(RB1):c.501-15T>C rs2138091494
NM_000321.3(RB1):c.501-17A>T
NM_000321.3(RB1):c.501-17_501-15del rs755753209
NM_000321.3(RB1):c.501-18T>A rs2138091486
NM_000321.3(RB1):c.501-18T>C
NM_000321.3(RB1):c.501-20C>A rs2138091470
NM_000321.3(RB1):c.501-2A>G
NM_000321.3(RB1):c.501-7T>A rs1031585875
NM_000321.3(RB1):c.501-7T>C
NM_000321.3(RB1):c.501-8C>A rs1952511460
NM_000321.3(RB1):c.501-9T>C rs1593437266
NM_000321.3(RB1):c.501G>T (p.Arg167Ser)
NM_000321.3(RB1):c.506G>C (p.Cys169Ser) rs1251503080
NM_000321.3(RB1):c.506dup (p.Cys169fs) rs2138091538
NM_000321.3(RB1):c.508G>A (p.Glu170Lys)
NM_000321.3(RB1):c.508G>T (p.Glu170Ter) rs587778826
NM_000321.3(RB1):c.509A>G (p.Glu170Gly)
NM_000321.3(RB1):c.50C>T (p.Ala17Val) rs1593412070
NM_000321.3(RB1):c.510A>G (p.Glu170=)
NM_000321.3(RB1):c.510del (p.Glu170fs) rs1555283482
NM_000321.3(RB1):c.512T>C (p.Leu171Pro)
NM_000321.3(RB1):c.513_515dup (p.Ile172dup) rs2138091572
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.517_518insTCGAT (p.Tyr173fs)
NM_000321.3(RB1):c.519T>C (p.Tyr173=)
NM_000321.3(RB1):c.520T>G (p.Leu174Val) rs1426744051
NM_000321.3(RB1):c.523A>G (p.Thr175Ala)
NM_000321.3(RB1):c.526_532del (p.Gln176fs) rs1952511865
NM_000321.3(RB1):c.528A>G (p.Gln176=) rs1952511922
NM_000321.3(RB1):c.529C>T (p.Pro177Ser) rs1357310270
NM_000321.3(RB1):c.52G>A (p.Ala18Thr) rs528218090
NM_000321.3(RB1):c.530C>A (p.Pro177His) rs1952511945
NM_000321.3(RB1):c.530C>G (p.Pro177Arg) rs1952511945
NM_000321.3(RB1):c.530C>T (p.Pro177Leu)
NM_000321.3(RB1):c.533G>A (p.Ser178Asn)
NM_000321.3(RB1):c.534C>G (p.Ser178Arg)
NM_000321.3(RB1):c.534_539+5del
NM_000321.3(RB1):c.535A>G (p.Ser179Gly) rs970490020
NM_000321.3(RB1):c.539+11C>T
NM_000321.3(RB1):c.539+13C>G rs1408304236
NM_000321.3(RB1):c.539+13C>T rs1408304236
NM_000321.3(RB1):c.539+14A>G
NM_000321.3(RB1):c.539+15G>C
NM_000321.3(RB1):c.539+18T>C rs1368410297
NM_000321.3(RB1):c.539+1G>A rs1566187856
NM_000321.3(RB1):c.539+1G>C
NM_000321.3(RB1):c.539+3A>G
NM_000321.3(RB1):c.539+4A>G
NM_000321.3(RB1):c.539+9T>A
NM_000321.3(RB1):c.540-10T>G
NM_000321.3(RB1):c.540-13A>G
NM_000321.3(RB1):c.540-13A>T
NM_000321.3(RB1):c.540-15C>G
NM_000321.3(RB1):c.540-17_540-14del rs770994222
NM_000321.3(RB1):c.540-1G>A
NM_000321.3(RB1):c.540-20G>C
NM_000321.3(RB1):c.540-20G>T
NM_000321.3(RB1):c.540-4A>G rs2138093406
NM_000321.3(RB1):c.540-5A>C rs2138093401
NM_000321.3(RB1):c.540-6del rs1952522406
NM_000321.3(RB1):c.540-9G>A
NM_000321.3(RB1):c.540-9G>C rs1340503453
NM_000321.3(RB1):c.540-9G>T
NM_000321.3(RB1):c.541A>G (p.Ile181Val) rs781708508
NM_000321.3(RB1):c.542dup (p.Ser182fs)
NM_000321.3(RB1):c.544T>G (p.Ser182Ala)
NM_000321.3(RB1):c.545C>A (p.Ser182Tyr)
NM_000321.3(RB1):c.548C>T (p.Thr183Ile) rs1952522583
NM_000321.3(RB1):c.54_73dup (p.Pro25fs) rs1555279212
NM_000321.3(RB1):c.54_76dup (p.Pro26fs) rs1555279210
NM_000321.3(RB1):c.552A>C (p.Glu184Asp) rs1220347917
NM_000321.3(RB1):c.552A>G (p.Glu184=)
NM_000321.3(RB1):c.553A>G (p.Ile185Val)
NM_000321.3(RB1):c.554T>C (p.Ile185Thr)
NM_000321.3(RB1):c.554T>G (p.Ile185Arg)
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.564A>G (p.Ala188=) rs1952522861
NM_000321.3(RB1):c.565T>C (p.Leu189=) rs2138093547
NM_000321.3(RB1):c.566T>A (p.Leu189Ter) rs2138093555
NM_000321.3(RB1):c.567G>T (p.Leu189Phe)
NM_000321.3(RB1):c.56A>T (p.Glu19Val)
NM_000321.3(RB1):c.570G>A (p.Val190=) rs775061547
NM_000321.3(RB1):c.571C>A (p.Leu191Ile)
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.57A>G (p.Glu19=)
NM_000321.3(RB1):c.586A>G (p.Ile196Val) rs1952523113
NM_000321.3(RB1):c.589A>G (p.Thr197Ala) rs1421476380
NM_000321.3(RB1):c.596T>A (p.Leu199Ter) rs121913298
NM_000321.3(RB1):c.596del (p.Leu199fs) rs2138093700
NM_000321.3(RB1):c.597_601dup (p.Ala201delinsAspTer) rs1555283670
NM_000321.3(RB1):c.597del (p.Leu199fs) rs2138093727
NM_000321.3(RB1):c.59_71del (p.Pro20fs) rs1952053203
NM_000321.3(RB1):c.600A>C (p.Leu200Phe)
NM_000321.3(RB1):c.606del (p.Glu204fs) rs1593438023
NM_000321.3(RB1):c.607+12A>G
NM_000321.3(RB1):c.607+12_607+16del
NM_000321.3(RB1):c.607+13T>A rs750225169
NM_000321.3(RB1):c.607+17del
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.607+8C>T rs1555283680
NM_000321.3(RB1):c.607G>A (p.Gly203Arg) rs1012377281
NM_000321.3(RB1):c.607G>C (p.Gly203Arg) rs1012377281
NM_000321.3(RB1):c.607G>T (p.Gly203Trp) rs1012377281
NM_000321.3(RB1):c.608-10T>C rs1039235140
NM_000321.3(RB1):c.608-11T>G
NM_000321.3(RB1):c.608-12T>C
NM_000321.3(RB1):c.608-13A>C rs751643356
NM_000321.3(RB1):c.608-13A>G
NM_000321.3(RB1):c.608-14C>T
NM_000321.3(RB1):c.608-19A>G
NM_000321.3(RB1):c.608-2del rs1952624973
NM_000321.3(RB1):c.608-3C>G rs1952624919
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.609G>A (p.Gly203=) rs2138107549
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.610G>A (p.Glu204Lys) rs1340261233
NM_000321.3(RB1):c.610G>T (p.Glu204Ter) rs1340261233
NM_000321.3(RB1):c.611A>T (p.Glu204Val)
NM_000321.3(RB1):c.611_612insTTTTTT (p.Glu204delinsAspPheLeu) rs1593443469
NM_000321.3(RB1):c.616T>A (p.Leu206Ile)
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.619C>A (p.Gln207Lys) rs2138107604
NM_000321.3(RB1):c.619C>T (p.Gln207Ter) rs2138107604
NM_000321.3(RB1):c.621A>C (p.Gln207His) rs1952625195
NM_000321.3(RB1):c.621A>G (p.Gln207=)
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.62dup (p.Ala22fs) rs1469887040
NM_000321.3(RB1):c.630T>C (p.Asp210=) rs1952625286
NM_000321.3(RB1):c.634C>T (p.Leu212=) rs147085238
NM_000321.3(RB1):c.637G>T (p.Val213Leu)
NM_000321.3(RB1):c.640A>G (p.Ile214Val) rs1952625382
NM_000321.3(RB1):c.644C>A (p.Ser215Ter) rs768305224
NM_000321.3(RB1):c.644C>G (p.Ser215Ter)
NM_000321.3(RB1):c.644C>T (p.Ser215Leu) rs768305224
NM_000321.3(RB1):c.645A>G (p.Ser215=)
NM_000321.3(RB1):c.649del (p.Gln217fs) rs1593443514
NM_000321.3(RB1):c.652T>G (p.Leu218Val) rs1566191596
NM_000321.3(RB1):c.656T>A (p.Met219Lys) rs1952625561
NM_000321.3(RB1):c.656T>C (p.Met219Thr) rs1952625561
NM_000321.3(RB1):c.658C>A (p.Leu220Ile)
NM_000321.3(RB1):c.660A>G (p.Leu220=) rs886449283
NM_000321.3(RB1):c.663T>C (p.Cys221=)
NM_000321.3(RB1):c.666C>T (p.Val222=)
NM_000321.3(RB1):c.66A>C (p.Ala22=) rs1014225642
NM_000321.3(RB1):c.66A>G (p.Ala22=) rs1014225642
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)
NM_000321.3(RB1):c.67C>A (p.Pro23Thr) rs1349657979
NM_000321.3(RB1):c.67C>T (p.Pro23Ser) rs1349657979
NM_000321.3(RB1):c.686_689dup (p.Pro231fs)
NM_000321.3(RB1):c.687C>G (p.Leu229=)
NM_000321.3(RB1):c.687C>T (p.Leu229=) rs2138107911
NM_000321.3(RB1):c.688T>G (p.Ser230Ala) rs1952625902
NM_000321.3(RB1):c.689C>G (p.Ser230Ter)
NM_000321.3(RB1):c.689C>T (p.Ser230Leu) rs1459523811
NM_000321.3(RB1):c.68C>A (p.Pro23Gln) rs1952053594
NM_000321.3(RB1):c.68C>T (p.Pro23Leu) rs1952053594
NM_000321.3(RB1):c.690A>T (p.Ser230=) rs2138107923
NM_000321.3(RB1):c.691C>T (p.Pro231Ser) rs1952625956
NM_000321.3(RB1):c.692C>T (p.Pro231Leu) rs2138107936
NM_000321.3(RB1):c.696C>T (p.Pro232=)
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.6G>A (p.Pro2=) rs1593411898
NM_000321.3(RB1):c.700T>G (p.Leu234Val) rs1362138725
NM_000321.3(RB1):c.702G>A (p.Leu234=) rs1479014864
NM_000321.3(RB1):c.703C>G (p.Leu235Val)
NM_000321.3(RB1):c.703C>T (p.Leu235Phe)
NM_000321.3(RB1):c.707A>G (p.Lys236Arg) rs1952626193
NM_000321.3(RB1):c.708A>C (p.Lys236Asn) rs1173696113
NM_000321.3(RB1):c.709G>T (p.Glu237Ter) rs1131690904
NM_000321.3(RB1):c.712C>T (p.Pro238Ser)
NM_000321.3(RB1):c.718+10T>C
NM_000321.3(RB1):c.718+12A>C
NM_000321.3(RB1):c.718+14T>A rs1335503262
NM_000321.3(RB1):c.718+16A>G
NM_000321.3(RB1):c.718+18G>T rs2138108129
NM_000321.3(RB1):c.718+19C>A
NM_000321.3(RB1):c.718+20C>T
NM_000321.3(RB1):c.718+3A>G
NM_000321.3(RB1):c.718+5G>T rs1131690848
NM_000321.3(RB1):c.718+8_718+11del rs1593443613
NM_000321.3(RB1):c.718A>G (p.Lys240Glu) rs2138108056
NM_000321.3(RB1):c.719-10A>G rs2138112023
NM_000321.3(RB1):c.719-11C>T rs919154164
NM_000321.3(RB1):c.719-16T>C
NM_000321.3(RB1):c.719-17A>G
NM_000321.3(RB1):c.719-1_719delinsAG rs2138112061
NM_000321.3(RB1):c.719-2A>C rs1952654925
NM_000321.3(RB1):c.719-2A>T rs1952654925
NM_000321.3(RB1):c.719-3C>T rs2138112047
NM_000321.3(RB1):c.720A>G (p.Lys240=) rs1555284919
NM_000321.3(RB1):c.722C>T (p.Thr241Ile) rs1593445085
NM_000321.3(RB1):c.722del (p.Thr241fs)
NM_000321.3(RB1):c.723A>G (p.Thr241=)
NM_000321.3(RB1):c.725C>G (p.Ala242Gly)
NM_000321.3(RB1):c.726dup (p.Val243fs) rs1593445096
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.730A>T (p.Ile244Leu) rs778605591
NM_000321.3(RB1):c.733C>T (p.Pro245Ser) rs1952655166
NM_000321.3(RB1):c.734C>T (p.Pro245Leu) rs2138112166
NM_000321.3(RB1):c.735C>T (p.Pro245=) rs771620677
NM_000321.3(RB1):c.737T>G (p.Ile246Ser)
NM_000321.3(RB1):c.739A>G (p.Asn247Asp) rs1429451823
NM_000321.3(RB1):c.73C>A (p.Pro25Thr)
NM_000321.3(RB1):c.740A>G (p.Asn247Ser)
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.749C>G (p.Pro250Arg) rs1952655335
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.754A>T (p.Thr252Ser) rs1952655426
NM_000321.3(RB1):c.756A>G (p.Thr252=) rs1469535414
NM_000321.3(RB1):c.757C>A (p.Pro253Thr) rs1952655473
NM_000321.3(RB1):c.757C>G (p.Pro253Ala)
NM_000321.3(RB1):c.75G>A (p.Pro25=)
NM_000321.3(RB1):c.760A>G (p.Arg254Gly) rs2138112300
NM_000321.3(RB1):c.762G>T (p.Arg254Ser)
NM_000321.3(RB1):c.763C>A (p.Arg255=)
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.766G>A (p.Gly256Ser)
NM_000321.3(RB1):c.768dup (p.Gln257fs) rs2138112354
NM_000321.3(RB1):c.76C>T (p.Pro26Ser)
NM_000321.3(RB1):c.770A>G (p.Gln257Arg) rs1232080974
NM_000321.3(RB1):c.771_772del (p.Asn258fs)
NM_000321.3(RB1):c.772A>G (p.Asn258Asp)
NM_000321.3(RB1):c.772_776del (p.Asn258fs) rs1566192530
NM_000321.3(RB1):c.773A>G (p.Asn258Ser)
NM_000321.3(RB1):c.774C>T (p.Asn258=)
NM_000321.3(RB1):c.775A>T (p.Arg259Trp) rs1299654789
NM_000321.3(RB1):c.776G>C (p.Arg259Thr)
NM_000321.3(RB1):c.779G>A (p.Ser260Asn)
NM_000321.3(RB1):c.779G>C (p.Ser260Thr) rs1342634687
NM_000321.3(RB1):c.787del (p.Arg262_Ile263insTer) rs2138112461
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.794AAC[3] (p.Gln266dup) rs2138112498
NM_000321.3(RB1):c.795del (p.Lys265fs) rs587778827
NM_000321.3(RB1):c.796C>T (p.Gln266Ter)
NM_000321.3(RB1):c.798A>G (p.Gln266=)
NM_000321.3(RB1):c.799C>G (p.Leu267Val) rs1593445172
NM_000321.3(RB1):c.79C>T (p.Pro27Ser) rs1309325353
NM_000321.3(RB1):c.800T>C (p.Leu267Pro)
NM_000321.3(RB1):c.800del (p.Leu267fs) rs1566192557
NM_000321.3(RB1):c.806A>G (p.Asn269Ser) rs1952656398
NM_000321.3(RB1):c.807T>G (p.Asn269Lys) rs922948338
NM_000321.3(RB1):c.808G>T (p.Asp270Tyr)
NM_000321.3(RB1):c.809A>T (p.Asp270Val)
NM_000321.3(RB1):c.80C>T (p.Pro27Leu)
NM_000321.3(RB1):c.810T>C (p.Asp270=) rs1555284937
NM_000321.3(RB1):c.811A>G (p.Thr271Ala) rs1461707277
NM_000321.3(RB1):c.812C>T (p.Thr271Ile) rs1191072088
NM_000321.3(RB1):c.815G>A (p.Arg272Lys) rs2138112612
NM_000321.3(RB1):c.81C>A (p.Pro27=) rs1555279227
NM_000321.3(RB1):c.81C>G (p.Pro27=) rs1555279227
NM_000321.3(RB1):c.822T>C (p.Ile274=)
NM_000321.3(RB1):c.826G>T (p.Val276Phe) rs2138112665
NM_000321.3(RB1):c.82C>T (p.Pro28Ser)
NM_000321.3(RB1):c.838G>A (p.Glu280Lys) rs2138112743
NM_000321.3(RB1):c.83C>T (p.Pro28Leu) rs776175164
NM_000321.3(RB1):c.83del (p.Pro28fs) rs1276653645
NM_000321.3(RB1):c.840A>T (p.Glu280Asp)
NM_000321.3(RB1):c.840dup (p.His281fs) rs2138112755
NM_000321.3(RB1):c.841C>T (p.His281Tyr) rs933023013
NM_000321.3(RB1):c.843T>C (p.His281=)
NM_000321.3(RB1):c.847T>C (p.Cys283Arg)
NM_000321.3(RB1):c.848G>A (p.Cys283Tyr) rs1273219762
NM_000321.3(RB1):c.849T>C (p.Cys283=) rs2138112820
NM_000321.3(RB1):c.849_856del (p.Cys283_Asp286delinsTer) rs1593445220
NM_000321.3(RB1):c.853A>G (p.Ile285Val) rs1593445228
NM_000321.3(RB1):c.854T>C (p.Ile285Thr)
NM_000321.3(RB1):c.855A>G (p.Ile285Met) rs1566192594
NM_000321.3(RB1):c.856_857insTA (p.Asp286fs) rs2138112865
NM_000321.3(RB1):c.857A>G (p.Asp286Gly) rs1131690864
NM_000321.3(RB1):c.859G>T (p.Glu287Ter) rs1593445246
NM_000321.3(RB1):c.860A>G (p.Glu287Gly) rs1952657220
NM_000321.3(RB1):c.861+13C>A
NM_000321.3(RB1):c.861+14A>G
NM_000321.3(RB1):c.861+15T>A
NM_000321.3(RB1):c.861+15T>C
NM_000321.3(RB1):c.861+16G>A rs756590822
NM_000321.3(RB1):c.861+17A>G
NM_000321.3(RB1):c.861+1G>A
NM_000321.3(RB1):c.861+5T>G
NM_000321.3(RB1):c.861+828T>A
NM_000321.3(RB1):c.861+8A>T rs2138112923
NM_000321.3(RB1):c.861+9A>G rs2138112929
NM_000321.3(RB1):c.861G>A (p.Glu287=) rs1555284956
NM_000321.3(RB1):c.861G>C (p.Glu287Asp) rs1555284956
NM_000321.3(RB1):c.862-11A>G
NM_000321.3(RB1):c.862-12C>G rs2138116208
NM_000321.3(RB1):c.862-12C>T rs2138116208
NM_000321.3(RB1):c.862-14T>C rs2138116202
NM_000321.3(RB1):c.862-14T>G rs2138116202
NM_000321.3(RB1):c.862-18_862-17del
NM_000321.3(RB1):c.862-19G>C rs1321331035
NM_000321.3(RB1):c.862-19G>T rs1321331035
NM_000321.3(RB1):c.862-19del rs2138116175
NM_000321.3(RB1):c.862-1G>C rs2138116265
NM_000321.3(RB1):c.862-2A>G
NM_000321.3(RB1):c.862-4T>G
NM_000321.3(RB1):c.862-4del rs1555285114
NM_000321.3(RB1):c.862-9C>T rs2138116225
NM_000321.3(RB1):c.862G>A (p.Val288Met) rs1555285117
NM_000321.3(RB1):c.864G>A (p.Val288=)
NM_000321.3(RB1):c.867A>C (p.Lys289Asn) rs1555285126
NM_000321.3(RB1):c.868_869dup (p.Asn290fs)
NM_000321.3(RB1):c.869del (p.Asn290fs) rs1131690901
NM_000321.3(RB1):c.871G>A (p.Val291Ile)
NM_000321.3(RB1):c.873T>G (p.Val291=) rs2138116330
NM_000321.3(RB1):c.876T>C (p.Tyr292=) rs2138116341
NM_000321.3(RB1):c.879C>A (p.Phe293Leu) rs775381228
NM_000321.3(RB1):c.879C>T (p.Phe293=) rs775381228
NM_000321.3(RB1):c.881A>C (p.Lys294Thr) rs1453047397
NM_000321.3(RB1):c.884dup (p.Asn295fs) rs587778828
NM_000321.3(RB1):c.889A>C (p.Ile297Leu)
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.890T>C (p.Ile297Thr) rs1593446608
NM_000321.3(RB1):c.891A>C (p.Ile297=)
NM_000321.3(RB1):c.892C>A (p.Pro298Thr) rs2138116427
NM_000321.3(RB1):c.892C>T (p.Pro298Ser) rs2138116427
NM_000321.3(RB1):c.893C>A (p.Pro298His)
NM_000321.3(RB1):c.894T>G (p.Pro298=)
NM_000321.3(RB1):c.898A>G (p.Met300Val) rs1060503086
NM_000321.3(RB1):c.899T>C (p.Met300Thr)
NM_000321.3(RB1):c.899T>G (p.Met300Arg)
NM_000321.3(RB1):c.8C>T (p.Pro3Leu)
NM_000321.3(RB1):c.901A>G (p.Asn301Asp)
NM_000321.3(RB1):c.905C>A (p.Ser302Tyr) rs1208736713
NM_000321.3(RB1):c.905C>G (p.Ser302Cys)
NM_000321.3(RB1):c.908T>C (p.Leu303Pro) rs900955797
NM_000321.3(RB1):c.908T>G (p.Leu303Arg) rs900955797
NM_000321.3(RB1):c.912A>G (p.Gly304=) rs1593446655
NM_000321.3(RB1):c.913C>G (p.Leu305Val)
NM_000321.3(RB1):c.913C>T (p.Leu305Phe) rs1292944238
NM_000321.3(RB1):c.921A>G (p.Thr307=) rs1268911747
NM_000321.3(RB1):c.922T>C (p.Ser308Pro)
NM_000321.3(RB1):c.924T>G (p.Ser308=)
NM_000321.3(RB1):c.925A>G (p.Asn309Asp)
NM_000321.3(RB1):c.926A>G (p.Asn309Ser) rs1952680701
NM_000321.3(RB1):c.927T>C (p.Asn309=) rs2138116635
NM_000321.3(RB1):c.92dup (p.Asp32fs) rs1566174147
NM_000321.3(RB1):c.931C>T (p.Leu311Phe)
NM_000321.3(RB1):c.937G>T (p.Glu313Ter) rs587778843
NM_000321.3(RB1):c.938A>G (p.Glu313Gly)
NM_000321.3(RB1):c.939+19del
NM_000321.3(RB1):c.939+1G>A rs2138116708
NM_000321.3(RB1):c.939+1G>C rs2138116708
NM_000321.3(RB1):c.939+2T>C rs1952680837
NM_000321.3(RB1):c.939+3A>T rs1555285148
NM_000321.3(RB1):c.939+5T>G rs1952680873
NM_000321.3(RB1):c.939+8G>C
NM_000321.3(RB1):c.939G>A (p.Glu313=) rs2138116702
NM_000321.3(RB1):c.940-10_940-9del rs774207778
NM_000321.3(RB1):c.940-11T>G
NM_000321.3(RB1):c.940-13T>C rs2138120882
NM_000321.3(RB1):c.940-17G>A rs2138120867
NM_000321.3(RB1):c.940-1G>A rs1131690860
NM_000321.3(RB1):c.940-1G>T rs1131690860
NM_000321.3(RB1):c.940-20A>G rs2138120861
NM_000321.3(RB1):c.940-21C>A rs559042622
NM_000321.3(RB1):c.940-5T>C rs1289148853
NM_000321.3(RB1):c.940-8C>A
NM_000321.3(RB1):c.940-9del
NM_000321.3(RB1):c.940G>A (p.Val314Ile)
NM_000321.3(RB1):c.940G>T (p.Val314Phe) rs1566194312
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.949C>T (p.Leu317Phe)
NM_000321.3(RB1):c.94G>A (p.Asp32Asn) rs1593412219
NM_000321.3(RB1):c.94G>C (p.Asp32His) rs1593412219
NM_000321.3(RB1):c.951T>G (p.Leu317=) rs2138120995
NM_000321.3(RB1):c.951_954del (p.Ser318fs) rs1566194323
NM_000321.3(RB1):c.952T>C (p.Ser318Pro)
NM_000321.3(RB1):c.953C>G (p.Ser318Cys) rs886050271
NM_000321.3(RB1):c.954T>C (p.Ser318=) rs2138121014
NM_000321.3(RB1):c.954T>G (p.Ser318=)
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.961T>C (p.Tyr321His) rs2138121056
NM_000321.3(RB1):c.962A>G (p.Tyr321Cys) rs1566194338
NM_000321.3(RB1):c.963C>G (p.Tyr321Ter) rs377235036
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.967G>T (p.Glu323Ter) rs1060503077
NM_000321.3(RB1):c.969A>C (p.Glu323Asp)
NM_000321.3(RB1):c.96C>A (p.Asp32Glu)
NM_000321.3(RB1):c.970A>G (p.Ile324Val)
NM_000321.3(RB1):c.971T>C (p.Ile324Thr)
NM_000321.3(RB1):c.976C>T (p.Leu326Phe) rs1566194351
NM_000321.3(RB1):c.977T>C (p.Leu326Pro)
NM_000321.3(RB1):c.978T>G (p.Leu326=) rs2138121153
NM_000321.3(RB1):c.979A>G (p.Lys327Glu)
NM_000321.3(RB1):c.979_1033dup (p.Thr345delinsLysLysTer) rs1555285429
NM_000321.3(RB1):c.97C>T (p.Pro33Ser)
NM_000321.3(RB1):c.982_987del (p.Asn328_Lys329del) rs878853952
NM_000321.3(RB1):c.983del (p.Asn328fs) rs2138121175
NM_000321.3(RB1):c.983dup (p.Asn328fs) rs2138121175
NM_000321.3(RB1):c.984T>A (p.Asn328Lys) rs1952716275
NM_000321.3(RB1):c.985A>C (p.Lys329Gln) rs2138121199
NM_000321.3(RB1):c.988G>C (p.Asp330His)
NM_000321.3(RB1):c.98C>T (p.Pro33Leu) rs1201977804
NM_000321.3(RB1):c.98dup (p.Glu34fs) rs1952054473
NM_000321.3(RB1):c.990T>A (p.Asp330Glu) rs2138121244
NM_000321.3(RB1):c.993A>G (p.Leu331=)
NM_000321.3(RB1):c.994G>A (p.Asp332Asn)
NM_000321.3(RB1):c.998C>A (p.Ala333Glu)
NM_000321.3(RB1):c.99A>G (p.Pro33=) rs1055176035
NM_000321.3(RB1):c.9C>T (p.Pro3=)
NM_000321.3(RB1):c.9_10delinsGG (p.Lys4Glu)
NM_000321.3:c.2265_2343delinsAT
RB1, 5-BP DEL, EX8

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