NM_000321.3(RB1):c.1574C>G (p.Ala525Gly)
|
rs4151539
|
0.00623
|
NM_000321.3(RB1):c.2521-11G>A
|
rs4151624
|
0.00570
|
NM_000321.3(RB1):c.1390-11A>G
|
rs200658795
|
0.00365
|
NM_000321.3(RB1):c.1632A>G (p.Arg544=)
|
rs143948310
|
0.00245
|
NM_000321.3(RB1):c.42C>T (p.Ala14=)
|
rs148980395
|
0.00162
|
NM_000321.3(RB1):c.380+10C>G
|
rs187110786
|
0.00158
|
NM_000321.3(RB1):c.1129A>T (p.Thr377Ser)
|
rs146897002
|
0.00080
|
NM_000321.3(RB1):c.920C>T (p.Thr307Ile)
|
rs183898408
|
0.00079
|
NM_000321.3(RB1):c.52G>T (p.Ala18Ser)
|
rs528218090
|
0.00076
|
NM_000321.3(RB1):c.2566G>A (p.Asp856Asn)
|
rs149359120
|
0.00075
|
NM_000321.3(RB1):c.1770T>C (p.Cys590=)
|
rs145310579
|
0.00062
|
NM_000321.3(RB1):c.1966C>T (p.Arg656Trp)
|
rs142509759
|
0.00059
|
NM_000321.3(RB1):c.1707A>G (p.Leu569=)
|
rs3092895
|
0.00052
|
NM_000321.3(RB1):c.2392C>T (p.Arg798Trp)
|
rs187912365
|
0.00051
|
NM_000321.3(RB1):c.411A>T (p.Glu137Asp)
|
rs3092902
|
0.00040
|
NM_000321.3(RB1):c.1140C>T (p.Asn380=)
|
rs117865557
|
0.00029
|
NM_000321.3(RB1):c.929G>A (p.Gly310Glu)
|
rs200844292
|
0.00029
|
NM_000321.3(RB1):c.113G>A (p.Gly38Asp)
|
rs766529534
|
0.00016
|
NM_000321.3(RB1):c.1491A>T (p.Thr497=)
|
rs150115447
|
0.00015
|
NM_000321.3(RB1):c.1156A>G (p.Met386Val)
|
rs564780653
|
0.00014
|
NM_000321.3(RB1):c.1306C>A (p.Gln436Lys)
|
rs4151534
|
0.00014
|
NM_000321.3(RB1):c.2570G>A (p.Arg857His)
|
rs144668210
|
0.00013
|
NM_000321.3(RB1):c.2463A>G (p.Thr821=)
|
rs370088029
|
0.00011
|
NM_000321.3(RB1):c.59C>T (p.Pro20Leu)
|
rs587778637
|
0.00011
|
NM_000321.3(RB1):c.367A>G (p.Asn123Asp)
|
rs149800437
|
0.00010
|
NM_000321.3(RB1):c.36C>T (p.Thr12=)
|
rs779180897
|
0.00010
|
NM_000321.3(RB1):c.1862G>A (p.Arg621His)
|
rs373601944
|
0.00009
|
NM_000321.3(RB1):c.628G>T (p.Asp210Tyr)
|
rs148992508
|
0.00009
|
NM_000321.3(RB1):c.959G>A (p.Arg320Gln)
|
rs760787104
|
0.00009
|
NM_000321.3(RB1):c.2464C>G (p.Pro822Ala)
|
rs368413787
|
0.00008
|
NM_000321.3(RB1):c.1467C>T (p.Cys489=)
|
rs141608408
|
0.00007
|
NM_000321.3(RB1):c.1967G>A (p.Arg656Gln)
|
rs202031219
|
0.00007
|
NM_000321.3(RB1):c.1764T>A (p.Ser588=)
|
rs542783532
|
0.00006
|
NM_000321.3(RB1):c.2360G>A (p.Arg787Gln)
|
rs748094394
|
0.00006
|
NM_000321.3(RB1):c.285A>G (p.Lys95=)
|
rs755688480
|
0.00006
|
NM_000321.3(RB1):c.446C>T (p.Ser149Leu)
|
rs587778870
|
0.00006
|
NM_000321.3(RB1):c.180A>G (p.Leu60=)
|
rs878853948
|
0.00005
|
NM_000321.3(RB1):c.2003G>A (p.Arg668His)
|
rs551747882
|
0.00005
|
NM_000321.3(RB1):c.2652A>C (p.Glu884Asp)
|
rs765537411
|
0.00005
|
NM_000321.3(RB1):c.840A>G (p.Glu280=)
|
rs762092062
|
0.00005
|
NM_000321.3(RB1):c.106G>A (p.Asp36Asn)
|
rs745822791
|
0.00004
|
NM_000321.3(RB1):c.1335A>T (p.Arg445=)
|
rs757748029
|
0.00004
|
NM_000321.3(RB1):c.1573G>A (p.Ala525Thr)
|
rs587778640
|
0.00004
|
NM_000321.3(RB1):c.1619G>T (p.Gly540Val)
|
rs769696726
|
0.00004
|
NM_000321.3(RB1):c.16C>T (p.Pro6Ser)
|
rs886043138
|
0.00004
|
NM_000321.3(RB1):c.173C>T (p.Thr58Ile)
|
rs138574644
|
0.00004
|
NM_000321.3(RB1):c.1887G>C (p.Glu629Asp)
|
rs367668687
|
0.00004
|
NM_000321.3(RB1):c.2221C>T (p.Arg741Cys)
|
rs529366765
|
0.00004
|
NM_000321.3(RB1):c.2754T>C (p.Asp918=)
|
rs878853951
|
0.00004
|
NM_000321.3(RB1):c.2759T>C (p.Met920Thr)
|
rs148501460
|
0.00004
|
NM_000321.3(RB1):c.462G>A (p.Lys154=)
|
rs369830657
|
0.00004
|
NM_000321.3(RB1):c.731T>C (p.Ile244Thr)
|
rs147754935
|
0.00004
|
NM_000321.3(RB1):c.941T>A (p.Val314Asp)
|
rs780006952
|
0.00004
|
NM_000321.3(RB1):c.109A>G (p.Ser37Gly)
|
rs896487590
|
0.00003
|
NM_000321.3(RB1):c.1215C>T (p.Asn405=)
|
rs758187955
|
0.00003
|
NM_000321.3(RB1):c.1216-4A>G
|
rs763895695
|
0.00003
|
NM_000321.3(RB1):c.1814+3A>G
|
rs376886420
|
0.00003
|
NM_000321.3(RB1):c.1859C>T (p.Thr620Met)
|
rs554834063
|
0.00003
|
NM_000321.3(RB1):c.1922C>A (p.Pro641Gln)
|
rs1249069450
|
0.00003
|
NM_000321.3(RB1):c.2344A>G (p.Ile782Val)
|
rs1283644725
|
0.00003
|
NM_000321.3(RB1):c.2397T>G (p.Ile799Met)
|
rs749392116
|
0.00003
|
NM_000321.3(RB1):c.2626C>T (p.Arg876Cys)
|
rs143105337
|
0.00003
|
NM_000321.3(RB1):c.2679A>G (p.Gly893=)
|
rs751718011
|
0.00003
|
NM_000321.3(RB1):c.30C>G (p.Ala10=)
|
rs530961288
|
0.00003
|
NM_000321.3(RB1):c.80C>G (p.Pro27Arg)
|
rs925399787
|
0.00003
|
NM_000321.3(RB1):c.-1C>T
|
rs754354560
|
0.00002
|
NM_000321.3(RB1):c.1083C>A (p.Asn361Lys)
|
rs976503237
|
0.00002
|
NM_000321.3(RB1):c.1240A>C (p.Ser414Arg)
|
rs974956317
|
0.00002
|
NM_000321.3(RB1):c.1318G>A (p.Glu440Lys)
|
rs1060503078
|
0.00002
|
NM_000321.3(RB1):c.1464G>A (p.Ala488=)
|
rs753520981
|
0.00002
|
NM_000321.3(RB1):c.1898C>T (p.Thr633Ile)
|
rs587778641
|
0.00002
|
NM_000321.3(RB1):c.1981C>T (p.Arg661Trp)
|
rs137853294
|
0.00002
|
NM_000321.3(RB1):c.2222G>A (p.Arg741His)
|
rs764520289
|
0.00002
|
NM_000321.3(RB1):c.2273C>T (p.Ser758Leu)
|
rs754814477
|
0.00002
|
NM_000321.3(RB1):c.2370C>T (p.Tyr790=)
|
rs794727372
|
0.00002
|
NM_000321.3(RB1):c.2489+3G>T
|
rs1057505320
|
0.00002
|
NM_000321.3(RB1):c.2491A>G (p.Ile831Val)
|
rs761068783
|
0.00002
|
NM_000321.3(RB1):c.2518G>A (p.Gly840Arg)
|
rs374157786
|
0.00002
|
NM_000321.3(RB1):c.2670T>C (p.His890=)
|
rs758547395
|
0.00002
|
NM_000321.3(RB1):c.2778A>C (p.Glu926Asp)
|
rs1433767914
|
0.00002
|
NM_000321.3(RB1):c.316G>T (p.Ala106Ser)
|
rs1210328667
|
0.00002
|
NM_000321.3(RB1):c.354T>A (p.Thr118=)
|
rs951251256
|
0.00002
|
NM_000321.3(RB1):c.761G>A (p.Arg254Lys)
|
rs200674097
|
0.00002
|
NM_000321.3(RB1):c.850A>G (p.Asn284Asp)
|
rs761609284
|
0.00002
|
NM_000321.3(RB1):c.897T>A (p.Phe299Leu)
|
rs772362181
|
0.00002
|
NM_000321.3(RB1):c.1024A>T (p.Thr342Ser)
|
rs751263356
|
0.00001
|
NM_000321.3(RB1):c.104A>T (p.Gln35Leu)
|
rs1480581747
|
0.00001
|
NM_000321.3(RB1):c.1073G>A (p.Arg358Gln)
|
rs767011440
|
0.00001
|
NM_000321.3(RB1):c.1095G>C (p.Glu365Asp)
|
rs750094760
|
0.00001
|
NM_000321.3(RB1):c.1128-5del
|
rs886038280
|
0.00001
|
NM_000321.3(RB1):c.1128G>C (p.Arg376Ser)
|
rs908738769
|
0.00001
|
NM_000321.3(RB1):c.1139A>G (p.Asn380Ser)
|
rs1470523018
|
0.00001
|
NM_000321.3(RB1):c.1144A>G (p.Ile382Val)
|
rs1286489738
|
0.00001
|
NM_000321.3(RB1):c.1163T>G (p.Ile388Ser)
|
rs373623059
|
0.00001
|
NM_000321.3(RB1):c.116C>T (p.Pro39Leu)
|
rs1180053508
|
0.00001
|
NM_000321.3(RB1):c.1174G>A (p.Ala392Thr)
|
rs181988132
|
0.00001
|
NM_000321.3(RB1):c.1180G>A (p.Asp394Asn)
|
rs753350745
|
0.00001
|
NM_000321.3(RB1):c.1198C>G (p.Leu400Val)
|
rs535576919
|
0.00001
|
NM_000321.3(RB1):c.1206C>T (p.Ser402=)
|
rs752679968
|
0.00001
|
NM_000321.3(RB1):c.1215+3A>G
|
rs1254191370
|
0.00001
|
NM_000321.3(RB1):c.1223C>T (p.Thr408Ile)
|
rs1462238834
|
0.00001
|
NM_000321.3(RB1):c.1243A>C (p.Ile415Leu)
|
rs1346693507
|
0.00001
|
NM_000321.3(RB1):c.124C>T (p.Leu42=)
|
rs1312883856
|
0.00001
|
NM_000321.3(RB1):c.1268G>A (p.Gly423Glu)
|
rs748635133
|
0.00001
|
NM_000321.3(RB1):c.1317C>T (p.Val439=)
|
rs1952832303
|
0.00001
|
NM_000321.3(RB1):c.1323T>C (p.Ile441=)
|
rs1952832419
|
0.00001
|
NM_000321.3(RB1):c.1325G>C (p.Gly442Ala)
|
rs1370947947
|
0.00001
|
NM_000321.3(RB1):c.1334G>A (p.Arg445Gln)
|
rs747509282
|
0.00001
|
NM_000321.3(RB1):c.1351C>T (p.Arg451Cys)
|
rs759079385
|
0.00001
|
NM_000321.3(RB1):c.1363C>T (p.Arg455Ter)
|
rs121913302
|
0.00001
|
NM_000321.3(RB1):c.1364G>A (p.Arg455Gln)
|
rs769425649
|
0.00001
|
NM_000321.3(RB1):c.1378A>G (p.Met460Val)
|
rs1258210045
|
0.00001
|
NM_000321.3(RB1):c.138-4G>A
|
rs1010049143
|
0.00001
|
NM_000321.3(RB1):c.1389A>G (p.Ser463=)
|
rs1486168292
|
0.00001
|
NM_000321.3(RB1):c.1399C>A (p.Arg467=)
|
rs398123331
|
0.00001
|
NM_000321.3(RB1):c.1406C>T (p.Ser469Phe)
|
rs1243796201
|
0.00001
|
NM_000321.3(RB1):c.144G>A (p.Glu48=)
|
rs1021965284
|
0.00001
|
NM_000321.3(RB1):c.1451T>C (p.Met484Thr)
|
rs1948522862
|
0.00001
|
NM_000321.3(RB1):c.1459T>C (p.Leu487=)
|
rs1269949158
|
0.00001
|
NM_000321.3(RB1):c.1463C>T (p.Ala488Val)
|
rs780248969
|
0.00001
|
NM_000321.3(RB1):c.1486G>T (p.Ala496Ser)
|
rs1366675428
|
0.00001
|
NM_000321.3(RB1):c.148G>C (p.Glu50Gln)
|
rs1060503085
|
0.00001
|
NM_000321.3(RB1):c.1494T>C (p.Tyr498=)
|
rs768929728
|
0.00001
|
NM_000321.3(RB1):c.14C>T (p.Thr5Ile)
|
rs1265159988
|
0.00001
|
NM_000321.3(RB1):c.1505C>T (p.Thr502Ile)
|
rs752334972
|
0.00001
|
NM_000321.3(RB1):c.150A>T (p.Glu50Asp)
|
rs1330924197
|
0.00001
|
NM_000321.3(RB1):c.1542C>T (p.Phe514=)
|
rs1436921535
|
0.00001
|
NM_000321.3(RB1):c.1545A>G (p.Pro515=)
|
rs1486158291
|
0.00001
|
NM_000321.3(RB1):c.155C>T (p.Thr52Ile)
|
rs780588550
|
0.00001
|
NM_000321.3(RB1):c.1596C>T (p.Ile532=)
|
rs770728170
|
0.00001
|
NM_000321.3(RB1):c.1617A>C (p.Glu539Asp)
|
rs371031574
|
0.00001
|
NM_000321.3(RB1):c.161A>G (p.Glu54Gly)
|
rs1952089249
|
0.00001
|
NM_000321.3(RB1):c.1648T>C (p.Leu550=)
|
rs1280754489
|
0.00001
|
NM_000321.3(RB1):c.1655G>A (p.Arg552Gln)
|
rs146236493
|
0.00001
|
NM_000321.3(RB1):c.165T>A (p.Pro55=)
|
rs775560197
|
0.00001
|
NM_000321.3(RB1):c.1667G>A (p.Arg556Gln)
|
rs773116120
|
0.00001
|
NM_000321.3(RB1):c.1681C>T (p.Leu561Phe)
|
rs761257231
|
0.00001
|
NM_000321.3(RB1):c.1696-4A>G
|
rs143685082
|
0.00001
|
NM_000321.3(RB1):c.1736G>A (p.Arg579Gln)
|
rs751560923
|
0.00001
|
NM_000321.3(RB1):c.1741G>A (p.Gly581Arg)
|
rs375645171
|
0.00001
|
NM_000321.3(RB1):c.1750G>T (p.Asp584Tyr)
|
rs1343212063
|
0.00001
|
NM_000321.3(RB1):c.1755C>T (p.His585=)
|
rs750305249
|
0.00001
|
NM_000321.3(RB1):c.1778A>G (p.Asn593Ser)
|
rs138033832
|
0.00001
|
NM_000321.3(RB1):c.177A>T (p.Ala59=)
|
rs189574280
|
0.00001
|
NM_000321.3(RB1):c.1815-5T>C
|
rs770160524
|
0.00001
|
NM_000321.3(RB1):c.1815G>A (p.Met605Ile)
|
rs1472724809
|
0.00001
|
NM_000321.3(RB1):c.1860G>A (p.Thr620=)
|
rs750356534
|
0.00001
|
NM_000321.3(RB1):c.1876G>A (p.Ala626Thr)
|
rs747147942
|
0.00001
|
NM_000321.3(RB1):c.1944A>G (p.Ser648=)
|
rs762529301
|
0.00001
|
NM_000321.3(RB1):c.1982G>A (p.Arg661Gln)
|
rs750578651
|
0.00001
|
NM_000321.3(RB1):c.1988A>G (p.Asn663Ser)
|
rs1007286459
|
0.00001
|
NM_000321.3(RB1):c.1992A>T (p.Thr664=)
|
rs755417160
|
0.00001
|
NM_000321.3(RB1):c.1997G>T (p.Cys666Phe)
|
rs1160394123
|
0.00001
|
NM_000321.3(RB1):c.2002C>T (p.Arg668Cys)
|
rs369755801
|
0.00001
|
NM_000321.3(RB1):c.201A>C (p.Pro67=)
|
rs1268550381
|
0.00001
|
NM_000321.3(RB1):c.2038A>G (p.Ile680Val)
|
rs1422900655
|
0.00001
|
NM_000321.3(RB1):c.2049T>C (p.Leu683=)
|
rs1048847950
|
0.00001
|
NM_000321.3(RB1):c.2066A>G (p.Gln689Arg)
|
rs1447082021
|
0.00001
|
NM_000321.3(RB1):c.2076T>C (p.Tyr692=)
|
rs1060504827
|
0.00001
|
NM_000321.3(RB1):c.2078A>G (p.Glu693Gly)
|
rs775195256
|
0.00001
|
NM_000321.3(RB1):c.2091C>G (p.Asp697Glu)
|
rs3092903
|
0.00001
|
NM_000321.3(RB1):c.20G>A (p.Arg7Gln)
|
rs564059250
|
0.00001
|
NM_000321.3(RB1):c.2127T>C (p.Tyr709=)
|
rs1484231598
|
0.00001
|
NM_000321.3(RB1):c.215A>G (p.Glu72Gly)
|
rs753307498
|
0.00001
|
NM_000321.3(RB1):c.2175A>G (p.Val725=)
|
rs1339244165
|
0.00001
|
NM_000321.3(RB1):c.2186A>C (p.Lys729Thr)
|
rs150600740
|
0.00001
|
NM_000321.3(RB1):c.2198A>T (p.His733Leu)
|
rs778503152
|
0.00001
|
NM_000321.3(RB1):c.2259A>C (p.Ile753=)
|
rs1387030828
|
0.00001
|
NM_000321.3(RB1):c.2274G>A (p.Ser758=)
|
rs558114005
|
0.00001
|
NM_000321.3(RB1):c.2277C>T (p.Val759=)
|
rs1949430859
|
0.00001
|
NM_000321.3(RB1):c.2289A>T (p.Arg763Ser)
|
rs1167280920
|
0.00001
|
NM_000321.3(RB1):c.2290C>G (p.Leu764Val)
|
rs138637932
|
0.00001
|
NM_000321.3(RB1):c.2332A>G (p.Thr778Ala)
|
rs878853950
|
0.00001
|
NM_000321.3(RB1):c.2349T>A (p.Pro783=)
|
rs753349760
|
0.00001
|
NM_000321.3(RB1):c.2356C>T (p.Pro786Ser)
|
rs754507551
|
0.00001
|
NM_000321.3(RB1):c.2381G>C (p.Ser794Thr)
|
rs1240896329
|
0.00001
|
NM_000321.3(RB1):c.238A>G (p.Lys80Glu)
|
rs751870680
|
0.00001
|
NM_000321.3(RB1):c.2393G>A (p.Arg798Gln)
|
rs374523971
|
0.00001
|
NM_000321.3(RB1):c.2436A>G (p.Pro812=)
|
rs1276641790
|
0.00001
|
NM_000321.3(RB1):c.2517C>T (p.Phe839=)
|
rs759188465
|
0.00001
|
NM_000321.3(RB1):c.2557T>C (p.Cys853Arg)
|
rs1295589257
|
0.00001
|
NM_000321.3(RB1):c.2559T>C (p.Cys853=)
|
rs148327780
|
0.00001
|
NM_000321.3(RB1):c.2568C>A (p.Asp856Glu)
|
rs1566240957
|
0.00001
|
NM_000321.3(RB1):c.2569C>G (p.Arg857Gly)
|
rs1032510984
|
0.00001
|
NM_000321.3(RB1):c.2602C>A (p.Pro868Thr)
|
rs1161450606
|
0.00001
|
NM_000321.3(RB1):c.2607T>G (p.Pro869=)
|
rs762588468
|
0.00001
|
NM_000321.3(RB1):c.2614C>T (p.Leu872=)
|
rs763673051
|
0.00001
|
NM_000321.3(RB1):c.2620A>C (p.Lys874Gln)
|
rs757818801
|
0.00001
|
NM_000321.3(RB1):c.2625A>G (p.Leu875=)
|
rs774463152
|
0.00001
|
NM_000321.3(RB1):c.2634T>C (p.Asp878=)
|
rs750293921
|
0.00001
|
NM_000321.3(RB1):c.2636T>C (p.Ile879Thr)
|
rs764140783
|
0.00001
|
NM_000321.3(RB1):c.2639A>C (p.Glu880Ala)
|
rs1259535894
|
0.00001
|
NM_000321.3(RB1):c.265-6_265-4del
|
rs780733860
|
0.00001
|
NM_000321.3(RB1):c.2653G>A (p.Ala885Thr)
|
rs752897010
|
0.00001
|
NM_000321.3(RB1):c.2656G>A (p.Asp886Asn)
|
rs1460190600
|
0.00001
|
NM_000321.3(RB1):c.269G>T (p.Gly90Val)
|
rs554727080
|
0.00001
|
NM_000321.3(RB1):c.2726C>A (p.Thr909Lys)
|
rs761999108
|
0.00001
|
NM_000321.3(RB1):c.272A>G (p.Tyr91Cys)
|
rs750850735
|
0.00001
|
NM_000321.3(RB1):c.273T>C (p.Tyr91=)
|
rs750136284
|
0.00001
|
NM_000321.3(RB1):c.2774A>G (p.Lys925Arg)
|
rs750946437
|
0.00001
|
NM_000321.3(RB1):c.2775G>A (p.Lys925=)
|
rs936709957
|
0.00001
|
NM_000321.3(RB1):c.341C>T (p.Ser114Leu)
|
rs139673557
|
0.00001
|
NM_000321.3(RB1):c.342G>A (p.Ser114=)
|
rs748093967
|
0.00001
|
NM_000321.3(RB1):c.34A>T (p.Thr12Ser)
|
rs1566174063
|
0.00001
|
NM_000321.3(RB1):c.352A>T (p.Thr118Ser)
|
rs1429553692
|
0.00001
|
NM_000321.3(RB1):c.356A>C (p.Glu119Ala)
|
rs1347755761
|
0.00001
|
NM_000321.3(RB1):c.370A>G (p.Ile124Val)
|
rs769858139
|
0.00001
|
NM_000321.3(RB1):c.395T>A (p.Phe132Tyr)
|
rs762380973
|
0.00001
|
NM_000321.3(RB1):c.399C>T (p.Asn133=)
|
rs765277265
|
0.00001
|
NM_000321.3(RB1):c.424A>G (p.Thr142Ala)
|
rs1307149332
|
0.00001
|
NM_000321.3(RB1):c.501-3C>T
|
rs773662417
|
0.00001
|
NM_000321.3(RB1):c.506G>A (p.Cys169Tyr)
|
rs1251503080
|
0.00001
|
NM_000321.3(RB1):c.536G>T (p.Ser179Ile)
|
rs1566187849
|
0.00001
|
NM_000321.3(RB1):c.539C>T (p.Ser180Leu)
|
rs367654488
|
0.00001
|
NM_000321.3(RB1):c.540-3T>C
|
rs149703672
|
0.00001
|
NM_000321.3(RB1):c.547A>G (p.Thr183Ala)
|
rs1593437952
|
0.00001
|
NM_000321.3(RB1):c.549T>C (p.Thr183=)
|
rs147793910
|
0.00001
|
NM_000321.3(RB1):c.560C>T (p.Ser187Phe)
|
rs770277291
|
0.00001
|
NM_000321.3(RB1):c.571C>T (p.Leu191=)
|
rs538578527
|
0.00001
|
NM_000321.3(RB1):c.60C>T (p.Pro20=)
|
rs777340111
|
0.00001
|
NM_000321.3(RB1):c.613G>A (p.Val205Ile)
|
rs770100636
|
0.00001
|
NM_000321.3(RB1):c.630T>A (p.Asp210Glu)
|
rs1952625286
|
0.00001
|
NM_000321.3(RB1):c.634C>A (p.Leu212Met)
|
rs147085238
|
0.00001
|
NM_000321.3(RB1):c.643T>C (p.Ser215Pro)
|
rs748923368
|
0.00001
|
NM_000321.3(RB1):c.658C>T (p.Leu220=)
|
rs367960214
|
0.00001
|
NM_000321.3(RB1):c.685C>T (p.Leu229Phe)
|
rs766131342
|
0.00001
|
NM_000321.3(RB1):c.694C>T (p.Pro232Ser)
|
rs1195873978
|
0.00001
|
NM_000321.3(RB1):c.697A>G (p.Met233Val)
|
rs770860809
|
0.00001
|
NM_000321.3(RB1):c.6G>T (p.Pro2=)
|
rs1593411898
|
0.00001
|
NM_000321.3(RB1):c.752G>A (p.Arg251Gln)
|
rs772678500
|
0.00001
|
NM_000321.3(RB1):c.782C>T (p.Ala261Val)
|
rs776307088
|
0.00001
|
NM_000321.3(RB1):c.784C>T (p.Arg262Trp)
|
rs556201144
|
0.00001
|
NM_000321.3(RB1):c.785G>A (p.Arg262Gln)
|
rs752342013
|
0.00001
|
NM_000321.3(RB1):c.78G>C (p.Pro26=)
|
rs1389899415
|
0.00001
|
NM_000321.3(RB1):c.813A>G (p.Thr271=)
|
rs1264516748
|
0.00001
|
NM_000321.3(RB1):c.83C>G (p.Pro28Arg)
|
rs776175164
|
0.00001
|
NM_000321.3(RB1):c.852T>C (p.Asn284=)
|
rs1952657073
|
0.00001
|
NM_000321.3(RB1):c.86C>T (p.Pro29Leu)
|
rs938094455
|
0.00001
|
NM_000321.3(RB1):c.891A>G (p.Ile297Met)
|
rs1952680086
|
0.00001
|
NM_000321.3(RB1):c.898A>C (p.Met300Leu)
|
rs1060503086
|
0.00001
|
NM_000321.3(RB1):c.89A>C (p.Glu30Ala)
|
rs1482284498
|
0.00001
|
NM_000321.3(RB1):c.905C>T (p.Ser302Phe)
|
rs1208736713
|
0.00001
|
NM_000321.3(RB1):c.958C>G (p.Arg320Gly)
|
rs121913300
|
0.00001
|
NM_000321.3(RB1):c.963C>T (p.Tyr321=)
|
rs377235036
|
0.00001
|
NM_000321.3(RB1):c.965A>G (p.Glu322Gly)
|
rs142620145
|
0.00001
|
NM_000321.3(RB1):c.999A>C (p.Ala333=)
|
rs1254874409
|
0.00001
|
NM_000321.2(RB1):c.-198G>A
|
rs387906521
|
|
NM_000321.2(RB1):c.19_21delinsGG (p.Arg7fs)
|
rs1131690845
|
|
NM_000321.2(RB1):c.382_383dupGT
|
|
|
NM_000321.3(RB1):c.-2T>A
|
|
|
NM_000321.3(RB1):c.-2T>C
|
|
|
NM_000321.3(RB1):c.-2T>G
|
rs1466986201
|
|
NM_000321.3(RB1):c.1001G>A (p.Arg334Lys)
|
|
|
NM_000321.3(RB1):c.1006T>C (p.Phe336Leu)
|
|
|
NM_000321.3(RB1):c.1007T>G (p.Phe336Cys)
|
|
|
NM_000321.3(RB1):c.1011G>A (p.Leu337=)
|
|
|
NM_000321.3(RB1):c.1012G>A (p.Asp338Asn)
|
|
|
NM_000321.3(RB1):c.1022A>G (p.Lys341Arg)
|
rs1393042716
|
|
NM_000321.3(RB1):c.1024del (p.Thr342fs)
|
rs587778844
|
|
NM_000321.3(RB1):c.1025C>T (p.Thr342Ile)
|
|
|
NM_000321.3(RB1):c.1027del (p.Leu343fs)
|
rs1131690873
|
|
NM_000321.3(RB1):c.1030C>A (p.Gln344Lys)
|
|
|
NM_000321.3(RB1):c.1030C>T (p.Gln344Ter)
|
|
|
NM_000321.3(RB1):c.1033A>T (p.Thr345Ser)
|
|
|
NM_000321.3(RB1):c.1037A>C (p.Asp346Ala)
|
rs1566194403
|
|
NM_000321.3(RB1):c.1037A>G (p.Asp346Gly)
|
|
|
NM_000321.3(RB1):c.1043T>C (p.Ile348Thr)
|
rs1295421967
|
|
NM_000321.3(RB1):c.1047_1049+168delinsATCAATAA
|
|
|
NM_000321.3(RB1):c.1049+1G>A
|
rs587776782
|
|
NM_000321.3(RB1):c.1049+1G>T
|
rs587776782
|
|
NM_000321.3(RB1):c.1049+5T>C
|
|
|
NM_000321.3(RB1):c.1049G>A (p.Ser350Asn)
|
|
|
NM_000321.3(RB1):c.1050-5T>C
|
|
|
NM_000321.3(RB1):c.105G>A (p.Gln35=)
|
|
|
NM_000321.3(RB1):c.1060_1061del (p.Gln354fs)
|
rs587778829
|
|
NM_000321.3(RB1):c.1061A>C (p.Gln354Pro)
|
|
|
NM_000321.3(RB1):c.1064_1065del (p.Arg355fs)
|
rs1131690861
|
|
NM_000321.3(RB1):c.1065A>T (p.Arg355Ser)
|
|
|
NM_000321.3(RB1):c.1066A>C (p.Thr356Pro)
|
rs2138123180
|
|
NM_000321.3(RB1):c.1067CAC[1] (p.Pro357del)
|
|
|
NM_000321.3(RB1):c.1069C>A (p.Pro357Thr)
|
|
|
NM_000321.3(RB1):c.106del (p.Asp36fs)
|
rs1131690913
|
|
NM_000321.3(RB1):c.1072C>T (p.Arg358Ter)
|
rs121913301
|
|
NM_000321.3(RB1):c.1072_1074delinsGG (p.Arg358fs)
|
rs1131690872
|
|
NM_000321.3(RB1):c.1073G>T (p.Arg358Leu)
|
|
|
NM_000321.3(RB1):c.1078A>T (p.Ser360Cys)
|
rs1593449010
|
|
NM_000321.3(RB1):c.1082A>C (p.Asn361Thr)
|
|
|
NM_000321.3(RB1):c.1083C>T (p.Asn361=)
|
rs976503237
|
|
NM_000321.3(RB1):c.1084C>T (p.Leu362Phe)
|
rs1952727001
|
|
NM_000321.3(RB1):c.1086T>G (p.Leu362=)
|
rs1212481028
|
|
NM_000321.3(RB1):c.1093G>C (p.Glu365Gln)
|
rs1270702085
|
|
NM_000321.3(RB1):c.109A>C (p.Ser37Arg)
|
rs896487590
|
|
NM_000321.3(RB1):c.1105del (p.Ile369fs)
|
|
|
NM_000321.3(RB1):c.1108C>T (p.Pro370Ser)
|
rs1168863456
|
|
NM_000321.3(RB1):c.1110T>C (p.Pro370=)
|
|
|
NM_000321.3(RB1):c.1113A>G (p.Pro371=)
|
rs2138123437
|
|
NM_000321.3(RB1):c.1115A>G (p.His372Arg)
|
|
|
NM_000321.3(RB1):c.1116C>T (p.His372=)
|
|
|
NM_000321.3(RB1):c.111C>T (p.Ser37=)
|
rs1411090163
|
|
NM_000321.3(RB1):c.1123G>C (p.Val375Leu)
|
rs1952727557
|
|
NM_000321.3(RB1):c.1128-2A>G
|
rs1131690892
|
|
NM_000321.3(RB1):c.112G>A (p.Gly38Ser)
|
|
|
NM_000321.3(RB1):c.1131T>C (p.Thr377=)
|
rs1414284893
|
|
NM_000321.3(RB1):c.1135A>G (p.Met379Val)
|
|
|
NM_000321.3(RB1):c.1138A>G (p.Asn380Asp)
|
|
|
NM_000321.3(RB1):c.1142C>T (p.Thr381Ile)
|
|
|
NM_000321.3(RB1):c.1147C>T (p.Gln383Ter)
|
rs1131690846
|
|
NM_000321.3(RB1):c.114C>T (p.Gly38=)
|
rs1369823342
|
|
NM_000321.3(RB1):c.1152A>G (p.Gln384=)
|
|
|
NM_000321.3(RB1):c.1158G>T (p.Met386Ile)
|
|
|
NM_000321.3(RB1):c.1158del (p.Met386fs)
|
|
|
NM_000321.3(RB1):c.1159A>G (p.Met387Val)
|
rs190689977
|
|
NM_000321.3(RB1):c.1159A>T (p.Met387Leu)
|
rs190689977
|
|
NM_000321.3(RB1):c.1162A>T (p.Ile388Phe)
|
|
|
NM_000321.3(RB1):c.1167A>C (p.Leu389Phe)
|
rs1952784310
|
|
NM_000321.3(RB1):c.1168A>C (p.Asn390His)
|
|
|
NM_000321.3(RB1):c.1177A>G (p.Ser393Gly)
|
|
|
NM_000321.3(RB1):c.1181A>G (p.Asp394Gly)
|
|
|
NM_000321.3(RB1):c.1181A>T (p.Asp394Val)
|
|
|
NM_000321.3(RB1):c.1189T>G (p.Ser397Ala)
|
|
|
NM_000321.3(RB1):c.118G>A (p.Glu40Lys)
|
rs1593412262
|
|
NM_000321.3(RB1):c.118del (p.Glu40fs)
|
rs1593412261
|
|
NM_000321.3(RB1):c.1191A>G (p.Ser397=)
|
|
|
NM_000321.3(RB1):c.1195A>G (p.Asn399Asp)
|
rs2138131269
|
|
NM_000321.3(RB1):c.1205C>T (p.Ser402Phe)
|
rs2138131310
|
|
NM_000321.3(RB1):c.1206C>A (p.Ser402=)
|
rs752679968
|
|
NM_000321.3(RB1):c.1206C>G (p.Ser402=)
|
rs752679968
|
|
NM_000321.3(RB1):c.1207T>C (p.Tyr403His)
|
|
|
NM_000321.3(RB1):c.1208A>G (p.Tyr403Cys)
|
|
|
NM_000321.3(RB1):c.120G>T (p.Glu40Asp)
|
|
|
NM_000321.3(RB1):c.1215+1G>A
|
rs587776783
|
|
NM_000321.3(RB1):c.1215+1G>C
|
|
|
NM_000321.3(RB1):c.1215+2T>G
|
rs1060503074
|
|
NM_000321.3(RB1):c.1216-28_1216-3del
|
|
|
NM_000321.3(RB1):c.1216-4A>T
|
|
|
NM_000321.3(RB1):c.1218C>T (p.Asn406=)
|
rs1593453983
|
|
NM_000321.3(RB1):c.121G>T (p.Asp41Tyr)
|
rs775161380
|
|
NM_000321.3(RB1):c.1220G>A (p.Cys407Tyr)
|
|
|
NM_000321.3(RB1):c.1221C>T (p.Cys407=)
|
rs756329704
|
|
NM_000321.3(RB1):c.1223C>G (p.Thr408Arg)
|
|
|
NM_000321.3(RB1):c.1224A>C (p.Thr408=)
|
rs371805499
|
|
NM_000321.3(RB1):c.1224A>G (p.Thr408=)
|
rs371805499
|
|
NM_000321.3(RB1):c.1225G>A (p.Val409Met)
|
rs1952830946
|
|
NM_000321.3(RB1):c.1229A>C (p.Asn410Thr)
|
rs1952831003
|
|
NM_000321.3(RB1):c.1229del (p.Asn410fs)
|
rs1131690897
|
|
NM_000321.3(RB1):c.1233A>G (p.Pro411=)
|
rs754078025
|
|
NM_000321.3(RB1):c.1238A>G (p.Glu413Gly)
|
|
|
NM_000321.3(RB1):c.1246C>A (p.Leu416Met)
|
|
|
NM_000321.3(RB1):c.124C>A (p.Leu42Met)
|
rs1312883856
|
|
NM_000321.3(RB1):c.1251_1252del (p.Arg418fs)
|
rs1131690889
|
|
NM_000321.3(RB1):c.1253G>A (p.Arg418Lys)
|
rs1952831579
|
|
NM_000321.3(RB1):c.1257G>T (p.Val419=)
|
|
|
NM_000321.3(RB1):c.1258A>G (p.Lys420Glu)
|
|
|
NM_000321.3(RB1):c.1275C>G (p.Ile425Met)
|
|
|
NM_000321.3(RB1):c.1275C>T (p.Ile425=)
|
|
|
NM_000321.3(RB1):c.1280A>G (p.Lys427Arg)
|
|
|
NM_000321.3(RB1):c.1282G>C (p.Glu428Gln)
|
|
|
NM_000321.3(RB1):c.1284G>A (p.Glu428=)
|
rs2138136532
|
|
NM_000321.3(RB1):c.1284G>T (p.Glu428Asp)
|
|
|
NM_000321.3(RB1):c.128C>G (p.Pro43Arg)
|
rs1555279239
|
|
NM_000321.3(RB1):c.128C>T (p.Pro43Leu)
|
|
|
NM_000321.3(RB1):c.128dup (p.Leu44fs)
|
|
|
NM_000321.3(RB1):c.1297G>A (p.Ala433Thr)
|
rs1166566395
|
|
NM_000321.3(RB1):c.129T>A (p.Pro43=)
|
rs1304775415
|
|
NM_000321.3(RB1):c.1309G>T (p.Gly437Cys)
|
|
|
NM_000321.3(RB1):c.130C>A (p.Leu44Ile)
|
rs1345893304
|
|
NM_000321.3(RB1):c.1310G>A (p.Gly437Asp)
|
|
|
NM_000321.3(RB1):c.1310G>C (p.Gly437Ala)
|
|
|
NM_000321.3(RB1):c.1311T>C (p.Gly437=)
|
rs759207520
|
|
NM_000321.3(RB1):c.1313G>A (p.Cys438Tyr)
|
rs1952832267
|
|
NM_000321.3(RB1):c.1321dup (p.Ile441fs)
|
rs1131690875
|
|
NM_000321.3(RB1):c.1326A>T (p.Gly442=)
|
|
|
NM_000321.3(RB1):c.1328C>A (p.Ser443Ter)
|
rs1060503079
|
|
NM_000321.3(RB1):c.1333-1G>A
|
rs2138140730
|
|
NM_000321.3(RB1):c.1333C>T (p.Arg445Ter)
|
rs3092891
|
|
NM_000321.3(RB1):c.1336T>A (p.Tyr446Asn)
|
|
|
NM_000321.3(RB1):c.1337A>G (p.Tyr446Cys)
|
|
|
NM_000321.3(RB1):c.1338C>A (p.Tyr446Ter)
|
rs1593455621
|
|
NM_000321.3(RB1):c.133G>C (p.Val45Leu)
|
|
|
NM_000321.3(RB1):c.1343T>A (p.Leu448His)
|
|
|
NM_000321.3(RB1):c.1345G>A (p.Gly449Arg)
|
rs1131690851
|
|
NM_000321.3(RB1):c.1352G>A (p.Arg451His)
|
rs1312442837
|
|
NM_000321.3(RB1):c.1353C>T (p.Arg451=)
|
rs912889209
|
|
NM_000321.3(RB1):c.1355T>G (p.Leu452Trp)
|
rs2138140900
|
|
NM_000321.3(RB1):c.1356G>A (p.Leu452=)
|
rs201285819
|
|
NM_000321.3(RB1):c.1356G>T (p.Leu452Phe)
|
rs201285819
|
|
NM_000321.3(RB1):c.1362C>G (p.Tyr454Ter)
|
|
|
NM_000321.3(RB1):c.1364G>C (p.Arg455Pro)
|
rs769425649
|
|
NM_000321.3(RB1):c.1364G>T (p.Arg455Leu)
|
|
|
NM_000321.3(RB1):c.1365A>G (p.Arg455=)
|
rs1316896547
|
|
NM_000321.3(RB1):c.1365A>T (p.Arg455=)
|
|
|
NM_000321.3(RB1):c.137+1G>T
|
rs1131690855
|
|
NM_000321.3(RB1):c.1371G>A (p.Met457Ile)
|
rs1948514269
|
|
NM_000321.3(RB1):c.1372G>T (p.Glu458Ter)
|
rs1131690884
|
|
NM_000321.3(RB1):c.1374A>C (p.Glu458Asp)
|
|
|
NM_000321.3(RB1):c.1376C>T (p.Ser459Phe)
|
rs1593455667
|
|
NM_000321.3(RB1):c.137G>A (p.Arg46Lys)
|
|
|
NM_000321.3(RB1):c.138-1G>A
|
rs1593414337
|
|
NM_000321.3(RB1):c.1389+1G>A
|
|
|
NM_000321.3(RB1):c.1389+4A>C
|
rs1131690879
|
|
NM_000321.3(RB1):c.1389+5G>A
|
rs1131690859
|
|
NM_000321.3(RB1):c.1390-4T>C
|
|
|
NM_000321.3(RB1):c.1390_1392GAA[2] (p.Glu466del)
|
rs1948519753
|
|
NM_000321.3(RB1):c.1398A>G (p.Glu466=)
|
|
|
NM_000321.3(RB1):c.1399C>T (p.Arg467Ter)
|
rs398123331
|
|
NM_000321.3(RB1):c.139C>T (p.Leu47Phe)
|
rs1952088853
|
|
NM_000321.3(RB1):c.13A>G (p.Thr5Ala)
|
rs898303682
|
|
NM_000321.3(RB1):c.13A>T (p.Thr5Ser)
|
|
|
NM_000321.3(RB1):c.1400G>T (p.Arg467Leu)
|
|
|
NM_000321.3(RB1):c.1401A>T (p.Arg467=)
|
|
|
NM_000321.3(RB1):c.1403T>G (p.Leu468Ter)
|
|
|
NM_000321.3(RB1):c.1404A>G (p.Leu468=)
|
|
|
NM_000321.3(RB1):c.1404A>T (p.Leu468Phe)
|
rs2138142265
|
|
NM_000321.3(RB1):c.1406C>A (p.Ser469Tyr)
|
rs1243796201
|
|
NM_000321.3(RB1):c.1409T>G (p.Ile470Ser)
|
|
|
NM_000321.3(RB1):c.140T>C (p.Leu47Pro)
|
|
|
NM_000321.3(RB1):c.1410T>C (p.Ile470=)
|
rs578226820
|
|
NM_000321.3(RB1):c.1410T>G (p.Ile470Met)
|
rs578226820
|
|
NM_000321.3(RB1):c.1412A>G (p.Gln471Arg)
|
rs1948520103
|
|
NM_000321.3(RB1):c.1412A>T (p.Gln471Leu)
|
|
|
NM_000321.3(RB1):c.1420A>T (p.Ser474Cys)
|
|
|
NM_000321.3(RB1):c.1421+1G>C
|
rs1131690886
|
|
NM_000321.3(RB1):c.1421+1del
|
rs1555286576
|
|
NM_000321.3(RB1):c.1421+5A>G
|
|
|
NM_000321.3(RB1):c.1421G>T (p.Ser474Ile)
|
rs1555286575
|
|
NM_000321.3(RB1):c.1422-1G>T
|
|
|
NM_000321.3(RB1):c.1422-4T>G
|
rs201554179
|
|
NM_000321.3(RB1):c.1424A>C (p.Lys475Thr)
|
rs1593456261
|
|
NM_000321.3(RB1):c.1428T>C (p.Leu476=)
|
|
|
NM_000321.3(RB1):c.1429C>T (p.Leu477=)
|
|
|
NM_000321.3(RB1):c.1436ACA[1] (p.Asn480del)
|
rs587776788
|
|
NM_000321.3(RB1):c.143A>G (p.Glu48Gly)
|
rs2138033826
|
|
NM_000321.3(RB1):c.1447del (p.His483fs)
|
rs1131690910
|
|
NM_000321.3(RB1):c.1450_1451del (p.Met484fs)
|
rs1948522792
|
|
NM_000321.3(RB1):c.1450_1459del (p.Met484fs)
|
|
|
NM_000321.3(RB1):c.1452G>A (p.Met484Ile)
|
|
|
NM_000321.3(RB1):c.1453T>A (p.Ser485Thr)
|
|
|
NM_000321.3(RB1):c.1455T>C (p.Ser485=)
|
|
|
NM_000321.3(RB1):c.1462G>A (p.Ala488Thr)
|
|
|
NM_000321.3(RB1):c.1464G>T (p.Ala488=)
|
|
|
NM_000321.3(RB1):c.1465T>G (p.Cys489Gly)
|
rs1948523129
|
|
NM_000321.3(RB1):c.1466G>A (p.Cys489Tyr)
|
rs1131690877
|
|
NM_000321.3(RB1):c.1468G>A (p.Ala490Thr)
|
rs201458896
|
|
NM_000321.3(RB1):c.1468G>T (p.Ala490Ser)
|
rs201458896
|
|
NM_000321.3(RB1):c.1470T>C (p.Ala490=)
|
|
|
NM_000321.3(RB1):c.1470T>G (p.Ala490=)
|
rs1213010309
|
|
NM_000321.3(RB1):c.1471C>T (p.Leu491Phe)
|
|
|
NM_000321.3(RB1):c.1472T>A (p.Leu491His)
|
rs587778848
|
|
NM_000321.3(RB1):c.1474G>A (p.Glu492Lys)
|
rs1060503084
|
|
NM_000321.3(RB1):c.1482A>G (p.Val494=)
|
|
|
NM_000321.3(RB1):c.1486G>C (p.Ala496Pro)
|
|
|
NM_000321.3(RB1):c.1492T>A (p.Tyr498Asn)
|
|
|
NM_000321.3(RB1):c.1493A>G (p.Tyr498Cys)
|
rs1948523564
|
|
NM_000321.3(RB1):c.1496G>A (p.Ser499Asn)
|
rs774706300
|
|
NM_000321.3(RB1):c.1496G>C (p.Ser499Thr)
|
|
|
NM_000321.3(RB1):c.1498+1G>A
|
rs1131690909
|
|
NM_000321.3(RB1):c.1498+2T>C
|
|
|
NM_000321.3(RB1):c.1498+2T>G
|
rs1948523741
|
|
NM_000321.3(RB1):c.1498A>C (p.Arg500=)
|
rs1593456364
|
|
NM_000321.3(RB1):c.1502_1514del (p.Ser501fs)
|
rs1131690856
|
|
NM_000321.3(RB1):c.1503T>C (p.Ser501=)
|
rs2138144821
|
|
NM_000321.3(RB1):c.1514A>C (p.Asn505Thr)
|
rs1948533141
|
|
NM_000321.3(RB1):c.1517T>C (p.Leu506Pro)
|
|
|
NM_000321.3(RB1):c.1519G>A (p.Asp507Asn)
|
|
|
NM_000321.3(RB1):c.1519G>C (p.Asp507His)
|
rs2138144909
|
|
NM_000321.3(RB1):c.1522T>G (p.Ser508Ala)
|
|
|
NM_000321.3(RB1):c.1523C>T (p.Ser508Phe)
|
rs1204086259
|
|
NM_000321.3(RB1):c.1527A>G (p.Gly509=)
|
rs1948533245
|
|
NM_000321.3(RB1):c.1529C>A (p.Thr510Lys)
|
|
|
NM_000321.3(RB1):c.1531G>C (p.Asp511His)
|
rs145729675
|
|
NM_000321.3(RB1):c.1531del (p.Asp511fs)
|
|
|
NM_000321.3(RB1):c.1532A>G (p.Asp511Gly)
|
rs1948533324
|
|
NM_000321.3(RB1):c.1536G>A (p.Leu512=)
|
rs879124999
|
|
NM_000321.3(RB1):c.153A>C (p.Glu51Asp)
|
rs756860689
|
|
NM_000321.3(RB1):c.1543C>T (p.Pro515Ser)
|
rs866664638
|
|
NM_000321.3(RB1):c.154A>G (p.Thr52Ala)
|
|
|
NM_000321.3(RB1):c.1550T>A (p.Ile517Asn)
|
|
|
NM_000321.3(RB1):c.1558G>C (p.Val520Leu)
|
|
|
NM_000321.3(RB1):c.156A>G (p.Thr52=)
|
|
|
NM_000321.3(RB1):c.1574C>A (p.Ala525Asp)
|
rs4151539
|
|
NM_000321.3(RB1):c.1575del (p.Phe526fs)
|
rs1131690876
|
|
NM_000321.3(RB1):c.1576T>C (p.Phe526Leu)
|
|
|
NM_000321.3(RB1):c.157G>C (p.Glu53Gln)
|
|
|
NM_000321.3(RB1):c.1584T>C (p.Phe528=)
|
rs2138145241
|
|
NM_000321.3(RB1):c.1590del (p.Lys530_Val531insTer)
|
|
|
NM_000321.3(RB1):c.1592T>C (p.Val531Ala)
|
|
|
NM_000321.3(RB1):c.1592T>G (p.Val531Gly)
|
|
|
NM_000321.3(RB1):c.1596C>A (p.Ile532=)
|
rs770728170
|
|
NM_000321.3(RB1):c.1597G>C (p.Glu533Gln)
|
rs1237070816
|
|
NM_000321.3(RB1):c.159A>G (p.Glu53=)
|
|
|
NM_000321.3(RB1):c.15C>A (p.Thr5=)
|
rs1593411934
|
|
NM_000321.3(RB1):c.15C>T (p.Thr5=)
|
|
|
NM_000321.3(RB1):c.1608C>A (p.Ile536=)
|
|
|
NM_000321.3(RB1):c.1613C>T (p.Ala538Val)
|
|
|
NM_000321.3(RB1):c.1619G>A (p.Gly540Asp)
|
|
|
NM_000321.3(RB1):c.1625T>A (p.Leu542Ter)
|
rs1593457065
|
|
NM_000321.3(RB1):c.1633G>T (p.Glu545Ter)
|
rs1948534542
|
|
NM_000321.3(RB1):c.1635A>G (p.Glu545=)
|
|
|
NM_000321.3(RB1):c.1645C>G (p.His549Asp)
|
rs1050717570
|
|
NM_000321.3(RB1):c.1646A>G (p.His549Arg)
|
rs2138145592
|
|
NM_000321.3(RB1):c.164C>T (p.Pro55Leu)
|
|
|
NM_000321.3(RB1):c.164del (p.Pro55fs)
|
|
|
NM_000321.3(RB1):c.1651G>A (p.Glu551Lys)
|
rs147534828
|
|
NM_000321.3(RB1):c.1654C>T (p.Arg552Ter)
|
rs121913303
|
|
NM_000321.3(RB1):c.1655G>T (p.Arg552Leu)
|
|
|
NM_000321.3(RB1):c.1661A>G (p.Glu554Gly)
|
|
|
NM_000321.3(RB1):c.1664A>G (p.His555Arg)
|
rs1555286700
|
|
NM_000321.3(RB1):c.1666C>T (p.Arg556Ter)
|
rs121913304
|
|
NM_000321.3(RB1):c.1673T>C (p.Met558Thr)
|
|
|
NM_000321.3(RB1):c.1675G>C (p.Glu559Gln)
|
rs1131690869
|
|
NM_000321.3(RB1):c.1678T>A (p.Ser560Thr)
|
|
|
NM_000321.3(RB1):c.1684G>T (p.Ala562Ser)
|
|
|
NM_000321.3(RB1):c.1686A>C (p.Ala562=)
|
|
|
NM_000321.3(RB1):c.1686A>G (p.Ala562=)
|
|
|
NM_000321.3(RB1):c.1690C>G (p.Leu564Val)
|
|
|
NM_000321.3(RB1):c.1692C>G (p.Leu564=)
|
|
|
NM_000321.3(RB1):c.1692C>T (p.Leu564=)
|
rs1593457168
|
|
NM_000321.3(RB1):c.1695+3A>C
|
rs1131690870
|
|
NM_000321.3(RB1):c.1696-2A>G
|
rs1593529868
|
|
NM_000321.3(RB1):c.1698T>G (p.Asp566Glu)
|
|
|
NM_000321.3(RB1):c.1702C>T (p.Pro568Ser)
|
|
|
NM_000321.3(RB1):c.1703C>T (p.Pro568Leu)
|
|
|
NM_000321.3(RB1):c.1704T>C (p.Pro568=)
|
|
|
NM_000321.3(RB1):c.1704T>G (p.Pro568=)
|
rs1555293625
|
|
NM_000321.3(RB1):c.1706del (p.Leu569fs)
|
rs1131690842
|
|
NM_000321.3(RB1):c.1709T>C (p.Phe570Ser)
|
rs2138327013
|
|
NM_000321.3(RB1):c.1712A>T (p.Asp571Val)
|
|
|
NM_000321.3(RB1):c.1713T>C (p.Asp571=)
|
rs1286122592
|
|
NM_000321.3(RB1):c.1718T>C (p.Ile573Thr)
|
|
|
NM_000321.3(RB1):c.1720A>G (p.Lys574Glu)
|
rs1593529910
|
|
NM_000321.3(RB1):c.1722A>C (p.Lys574Asn)
|
rs1171421079
|
|
NM_000321.3(RB1):c.1726_1729del (p.Ser576fs)
|
|
|
NM_000321.3(RB1):c.172A>G (p.Thr58Ala)
|
rs1593414365
|
|
NM_000321.3(RB1):c.1731G>A (p.Lys577=)
|
rs1949337837
|
|
NM_000321.3(RB1):c.1731G>C (p.Lys577Asn)
|
rs1949337837
|
|
NM_000321.3(RB1):c.1731G>T (p.Lys577Asn)
|
rs1949337837
|
|
NM_000321.3(RB1):c.1733A>G (p.Asp578Gly)
|
|
|
NM_000321.3(RB1):c.1735C>A (p.Arg579=)
|
|
|
NM_000321.3(RB1):c.1735C>T (p.Arg579Ter)
|
rs121913305
|
|
NM_000321.3(RB1):c.1739A>G (p.Glu580Gly)
|
|
|
NM_000321.3(RB1):c.173C>G (p.Thr58Ser)
|
|
|
NM_000321.3(RB1):c.1745C>A (p.Pro582Gln)
|
|
|
NM_000321.3(RB1):c.1749T>G (p.Thr583=)
|
rs913654931
|
|
NM_000321.3(RB1):c.174T>A (p.Thr58=)
|
|
|
NM_000321.3(RB1):c.174T>C (p.Thr58=)
|
|
|
NM_000321.3(RB1):c.1751A>T (p.Asp584Val)
|
|
|
NM_000321.3(RB1):c.1753C>T (p.His585Tyr)
|
rs1401332173
|
|
NM_000321.3(RB1):c.1757T>C (p.Leu586Pro)
|
|
|
NM_000321.3(RB1):c.175_177delinsCCT (p.Ala59Pro)
|
rs1593414375
|
|
NM_000321.3(RB1):c.1763C>T (p.Ser588Phe)
|
rs1555293637
|
|
NM_000321.3(RB1):c.1765G>A (p.Ala589Thr)
|
rs1949338354
|
|
NM_000321.3(RB1):c.1766C>G (p.Ala589Gly)
|
rs779045727
|
|
NM_000321.3(RB1):c.1766C>T (p.Ala589Val)
|
rs779045727
|
|
NM_000321.3(RB1):c.1768T>G (p.Cys590Gly)
|
rs1060503089
|
|
NM_000321.3(RB1):c.1772C>T (p.Pro591Leu)
|
rs1221157259
|
|
NM_000321.3(RB1):c.1775T>C (p.Leu592Pro)
|
|
|
NM_000321.3(RB1):c.177A>G (p.Ala59=)
|
|
|
NM_000321.3(RB1):c.1785T>C (p.Pro595=)
|
rs1194487890
|
|
NM_000321.3(RB1):c.1786C>G (p.Leu596Val)
|
|
|
NM_000321.3(RB1):c.1796A>G (p.Asn599Ser)
|
|
|
NM_000321.3(RB1):c.17C>T (p.Pro6Leu)
|
|
|
NM_000321.3(RB1):c.1800C>T (p.His600=)
|
rs1555293650
|
|
NM_000321.3(RB1):c.1802C>G (p.Thr601Ser)
|
rs910909092
|
|
NM_000321.3(RB1):c.1802C>T (p.Thr601Ile)
|
|
|
NM_000321.3(RB1):c.1805C>A (p.Ala602Glu)
|
|
|
NM_000321.3(RB1):c.1810G>A (p.Asp604Asn)
|
rs2138327415
|
|
NM_000321.3(RB1):c.1811del (p.Asp604fs)
|
rs1131690893
|
|
NM_000321.3(RB1):c.1814+1G>A
|
|
|
NM_000321.3(RB1):c.1814+2T>G
|
rs1131690899
|
|
NM_000321.3(RB1):c.1814+4A>G
|
rs1131690898
|
|
NM_000321.3(RB1):c.1814T>C (p.Met605Thr)
|
rs1555293654
|
|
NM_000321.3(RB1):c.1815-4C>T
|
rs1593531868
|
|
NM_000321.3(RB1):c.1817A>G (p.Tyr606Cys)
|
|
|
NM_000321.3(RB1):c.1818T>A (p.Tyr606Ter)
|
rs137853297
|
|
NM_000321.3(RB1):c.1818T>G (p.Tyr606Ter)
|
|
|
NM_000321.3(RB1):c.1822del (p.Ser608fs)
|
|
|
NM_000321.3(RB1):c.1827T>C (p.Pro609=)
|
rs1593531889
|
|
NM_000321.3(RB1):c.1828G>A (p.Val610Ile)
|
|
|
NM_000321.3(RB1):c.1829T>C (p.Val610Ala)
|
rs934931283
|
|
NM_000321.3(RB1):c.1836T>C (p.Ser612=)
|
|
|
NM_000321.3(RB1):c.1837C>G (p.Pro613Ala)
|
|
|
NM_000321.3(RB1):c.1839A>G (p.Pro613=)
|
|
|
NM_000321.3(RB1):c.1844A>G (p.Lys615Arg)
|
rs1334513810
|
|
NM_000321.3(RB1):c.1850G>C (p.Gly617Ala)
|
|
|
NM_000321.3(RB1):c.1853C>G (p.Ser618Ter)
|
|
|
NM_000321.3(RB1):c.1853_1857del (p.Ser618fs)
|
|
|
NM_000321.3(RB1):c.1857T>G (p.Thr619=)
|
|
|
NM_000321.3(RB1):c.1858A>G (p.Thr620Ala)
|
|
|
NM_000321.3(RB1):c.1861C>A (p.Arg621Ser)
|
rs367578442
|
|
NM_000321.3(RB1):c.1861C>G (p.Arg621Gly)
|
rs367578442
|
|
NM_000321.3(RB1):c.1861C>T (p.Arg621Cys)
|
rs367578442
|
|
NM_000321.3(RB1):c.1864G>A (p.Val622Ile)
|
rs2138331204
|
|
NM_000321.3(RB1):c.1875T>C (p.Thr625=)
|
|
|
NM_000321.3(RB1):c.1883C>G (p.Ala628Gly)
|
rs1329826610
|
|
NM_000321.3(RB1):c.1886A>G (p.Glu629Gly)
|
|
|
NM_000321.3(RB1):c.1887G>T (p.Glu629Asp)
|
|
|
NM_000321.3(RB1):c.1890A>G (p.Thr630=)
|
rs1593532014
|
|
NM_000321.3(RB1):c.1892A>G (p.Gln631Arg)
|
rs1593532019
|
|
NM_000321.3(RB1):c.1893A>G (p.Gln631=)
|
rs746361171
|
|
NM_000321.3(RB1):c.1895C>A (p.Ala632Glu)
|
rs1949359489
|
|
NM_000321.3(RB1):c.1898C>A (p.Thr633Asn)
|
rs587778641
|
|
NM_000321.3(RB1):c.1899C>A (p.Thr633=)
|
|
|
NM_000321.3(RB1):c.18C>A (p.Pro6=)
|
|
|
NM_000321.3(RB1):c.18C>T (p.Pro6=)
|
rs1017683562
|
|
NM_000321.3(RB1):c.1905C>G (p.Ala635=)
|
|
|
NM_000321.3(RB1):c.1908C>T (p.Phe636=)
|
rs2138331404
|
|
NM_000321.3(RB1):c.190T>C (p.Leu64=)
|
|
|
NM_000321.3(RB1):c.1911G>A (p.Gln637=)
|
|
|
NM_000321.3(RB1):c.1912A>G (p.Thr638Ala)
|
|
|
NM_000321.3(RB1):c.1914C>A (p.Thr638=)
|
rs770072166
|
|
NM_000321.3(RB1):c.1916A>G (p.Gln639Arg)
|
rs775880919
|
|
NM_000321.3(RB1):c.1932T>C (p.Ser644=)
|
rs2138331538
|
|
NM_000321.3(RB1):c.1937C>G (p.Ser646Cys)
|
rs1173892082
|
|
NM_000321.3(RB1):c.1939_1940del (p.Leu647fs)
|
|
|
NM_000321.3(RB1):c.1940T>C (p.Leu647Pro)
|
rs2138331582
|
|
NM_000321.3(RB1):c.1945C>T (p.Leu649=)
|
|
|
NM_000321.3(RB1):c.1946T>C (p.Leu649Pro)
|
|
|
NM_000321.3(RB1):c.1946T>G (p.Leu649Arg)
|
|
|
NM_000321.3(RB1):c.1946del (p.Leu649fs)
|
|
|
NM_000321.3(RB1):c.1957A>G (p.Lys653Glu)
|
|
|
NM_000321.3(RB1):c.1960+5G>C
|
rs587778871
|
|
NM_000321.3(RB1):c.1960G>C (p.Val654Leu)
|
rs483352690
|
|
NM_000321.3(RB1):c.1961-4A>G
|
|
|
NM_000321.3(RB1):c.1961T>C (p.Val654Ala)
|
rs769113950
|
|
NM_000321.3(RB1):c.1961T>G (p.Val654Gly)
|
|
|
NM_000321.3(RB1):c.1962G>T (p.Val654=)
|
rs2138335792
|
|
NM_000321.3(RB1):c.1963T>G (p.Tyr655Asp)
|
|
|
NM_000321.3(RB1):c.1971A>G (p.Leu657=)
|
rs2138335837
|
|
NM_000321.3(RB1):c.1973C>T (p.Ala658Val)
|
|
|
NM_000321.3(RB1):c.1991C>T (p.Thr664Ile)
|
rs749739772
|
|
NM_000321.3(RB1):c.1992A>G (p.Thr664=)
|
rs755417160
|
|
NM_000321.3(RB1):c.1993del (p.Leu665fs)
|
|
|
NM_000321.3(RB1):c.1996T>C (p.Cys666Arg)
|
rs1949383921
|
|
NM_000321.3(RB1):c.199C>A (p.Pro67Thr)
|
|
|
NM_000321.3(RB1):c.199C>T (p.Pro67Ser)
|
rs1952089775
|
|
NM_000321.3(RB1):c.19C>A (p.Arg7=)
|
rs1952051704
|
|
NM_000321.3(RB1):c.19dup (p.Arg7fs)
|
rs1131690852
|
|
NM_000321.3(RB1):c.2002C>A (p.Arg668Ser)
|
rs369755801
|
|
NM_000321.3(RB1):c.2004C>T (p.Arg668=)
|
rs566777900
|
|
NM_000321.3(RB1):c.2011_2014del (p.Glu672fs)
|
rs1131690885
|
|
NM_000321.3(RB1):c.2013T>C (p.Ser671=)
|
|
|
NM_000321.3(RB1):c.2014G>T (p.Glu672Ter)
|
rs1131690903
|
|
NM_000321.3(RB1):c.2016G>C (p.Glu672Asp)
|
|
|
NM_000321.3(RB1):c.201A>G (p.Pro67=)
|
|
|
NM_000321.3(RB1):c.2022A>C (p.Pro674=)
|
|
|
NM_000321.3(RB1):c.2022A>G (p.Pro674=)
|
|
|
NM_000321.3(RB1):c.2025A>G (p.Glu675=)
|
|
|
NM_000321.3(RB1):c.2033A>G (p.His678Arg)
|
rs201046651
|
|
NM_000321.3(RB1):c.2035A>G (p.Ile679Val)
|
rs897199998
|
|
NM_000321.3(RB1):c.2037C>T (p.Ile679=)
|
|
|
NM_000321.3(RB1):c.203A>C (p.Asp68Ala)
|
|
|
NM_000321.3(RB1):c.2040C>A (p.Ile680=)
|
rs1593534695
|
|
NM_000321.3(RB1):c.2042G>A (p.Trp681Ter)
|
|
|
NM_000321.3(RB1):c.2046C>G (p.Thr682=)
|
rs994129583
|
|
NM_000321.3(RB1):c.2046C>T (p.Thr682=)
|
rs994129583
|
|
NM_000321.3(RB1):c.2053C>T (p.Gln685Ter)
|
rs878853949
|
|
NM_000321.3(RB1):c.2055G>A (p.Gln685=)
|
|
|
NM_000321.3(RB1):c.2055del (p.Gln685fs)
|
rs1131690844
|
|
NM_000321.3(RB1):c.2058C>A (p.His686Gln)
|
rs748484148
|
|
NM_000321.3(RB1):c.2060C>G (p.Thr687Ser)
|
|
|
NM_000321.3(RB1):c.2061C>T (p.Thr687=)
|
rs113432974
|
|
NM_000321.3(RB1):c.2074_2087del (p.Tyr692fs)
|
|
|
NM_000321.3(RB1):c.2079A>G (p.Glu693=)
|
|
|
NM_000321.3(RB1):c.207T>C (p.His69=)
|
rs759594127
|
|
NM_000321.3(RB1):c.2083A>T (p.Met695Leu)
|
|
|
NM_000321.3(RB1):c.2093G>C (p.Arg698Thr)
|
|
|
NM_000321.3(RB1):c.2094G>C (p.Arg698Ser)
|
rs1131690891
|
|
NM_000321.3(RB1):c.2097T>A (p.His699Gln)
|
rs1593534809
|
|
NM_000321.3(RB1):c.2102A>C (p.Asp701Ala)
|
|
|
NM_000321.3(RB1):c.2104C>T (p.Gln702Ter)
|
rs1131690865
|
|
NM_000321.3(RB1):c.2105A>G (p.Gln702Arg)
|
rs1131690857
|
|
NM_000321.3(RB1):c.2106+3A>G
|
rs1353683992
|
|
NM_000321.3(RB1):c.2107-1G>A
|
rs587778860
|
|
NM_000321.3(RB1):c.2122A>G (p.Met708Val)
|
|
|
NM_000321.3(RB1):c.2124del (p.Met708fs)
|
|
|
NM_000321.3(RB1):c.2128_2132del (p.Gly710fs)
|
rs1131690896
|
|
NM_000321.3(RB1):c.2130C>A (p.Gly710=)
|
|
|
NM_000321.3(RB1):c.2133A>T (p.Ile711=)
|
rs2138342328
|
|
NM_000321.3(RB1):c.2134T>C (p.Cys712Arg)
|
rs137853296
|
|
NM_000321.3(RB1):c.2138A>G (p.Lys713Arg)
|
rs1593538161
|
|
NM_000321.3(RB1):c.2143A>T (p.Lys715Ter)
|
|
|
NM_000321.3(RB1):c.2145G>A (p.Lys715=)
|
rs1555294515
|
|
NM_000321.3(RB1):c.214G>A (p.Glu72Lys)
|
|
|
NM_000321.3(RB1):c.2164A>T (p.Lys722Ter)
|
rs587778849
|
|
NM_000321.3(RB1):c.2165A>G (p.Lys722Arg)
|
|
|
NM_000321.3(RB1):c.2173G>T (p.Val725Leu)
|
|
|
NM_000321.3(RB1):c.2179G>T (p.Ala727Ser)
|
|
|
NM_000321.3(RB1):c.217A>G (p.Arg73Gly)
|
|
|
NM_000321.3(RB1):c.2198A>G (p.His733Arg)
|
rs778503152
|
|
NM_000321.3(RB1):c.219A>C (p.Arg73Ser)
|
rs1131690854
|
|
NM_000321.3(RB1):c.219A>G (p.Arg73=)
|
|
|
NM_000321.3(RB1):c.219_220del (p.Arg73fs)
|
rs587778862
|
|
NM_000321.3(RB1):c.21A>G (p.Arg7=)
|
rs2138027098
|
|
NM_000321.3(RB1):c.2202T>C (p.Ala734=)
|
|
|
NM_000321.3(RB1):c.2207A>C (p.Gln736Pro)
|
rs1372842030
|
|
NM_000321.3(RB1):c.220G>A (p.Ala74Thr)
|
rs1952090208
|
|
NM_000321.3(RB1):c.2210dup (p.Thr738fs)
|
|
|
NM_000321.3(RB1):c.2211+4G>A
|
|
|
NM_000321.3(RB1):c.2211+4G>T
|
rs1060503076
|
|
NM_000321.3(RB1):c.2211G>A (p.Glu737=)
|
rs587776787
|
|
NM_000321.3(RB1):c.2218A>G (p.Lys740Glu)
|
|
|
NM_000321.3(RB1):c.221C>T (p.Ala74Val)
|
|
|
NM_000321.3(RB1):c.2228T>C (p.Leu743Ser)
|
|
|
NM_000321.3(RB1):c.2229G>T (p.Leu743Phe)
|
|
|
NM_000321.3(RB1):c.222T>G (p.Ala74=)
|
|
|
NM_000321.3(RB1):c.2232C>A (p.Ile744=)
|
|
|
NM_000321.3(RB1):c.2237A>G (p.Glu746Gly)
|
|
|
NM_000321.3(RB1):c.2238A>G (p.Glu746=)
|
rs991505835
|
|
NM_000321.3(RB1):c.2239GAG[1] (p.Glu748del)
|
rs2138344648
|
|
NM_000321.3(RB1):c.2241G>A (p.Glu747=)
|
rs750057315
|
|
NM_000321.3(RB1):c.2244G>A (p.Glu748=)
|
rs1131690911
|
|
NM_000321.3(RB1):c.2245T>C (p.Tyr749His)
|
|
|
NM_000321.3(RB1):c.2246A>G (p.Tyr749Cys)
|
|
|
NM_000321.3(RB1):c.224G>T (p.Trp75Leu)
|
|
|
NM_000321.3(RB1):c.2253T>A (p.Ser751=)
|
|
|
NM_000321.3(RB1):c.2255T>C (p.Ile752Thr)
|
|
|
NM_000321.3(RB1):c.2257A>T (p.Ile753Leu)
|
|
|
NM_000321.3(RB1):c.2260G>C (p.Val754Leu)
|
rs587778642
|
|
NM_000321.3(RB1):c.2266del (p.Tyr756fs)
|
|
|
NM_000321.3(RB1):c.2268T>C (p.Tyr756=)
|
rs2138344778
|
|
NM_000321.3(RB1):c.2271C>T (p.Asn757=)
|
|
|
NM_000321.3(RB1):c.2282T>C (p.Met761Thr)
|
|
|
NM_000321.3(RB1):c.2284C>A (p.Gln762Lys)
|
rs1593539225
|
|
NM_000321.3(RB1):c.2287A>T (p.Arg763Ter)
|
|
|
NM_000321.3(RB1):c.2288G>A (p.Arg763Lys)
|
rs2138344904
|
|
NM_000321.3(RB1):c.2299A>G (p.Asn767Asp)
|
|
|
NM_000321.3(RB1):c.2299_2302del (p.Asn767fs)
|
rs1131690894
|
|
NM_000321.3(RB1):c.22A>G (p.Lys8Glu)
|
|
|
NM_000321.3(RB1):c.2307G>A (p.Leu769=)
|
|
|
NM_000321.3(RB1):c.2310G>A (p.Gln770=)
|
rs777040395
|
|
NM_000321.3(RB1):c.2311T>C (p.Tyr771His)
|
rs746038522
|
|
NM_000321.3(RB1):c.2319C>T (p.Ser773=)
|
rs2138345040
|
|
NM_000321.3(RB1):c.231T>A (p.Thr77=)
|
|
|
NM_000321.3(RB1):c.231T>C (p.Thr77=)
|
rs1277146164
|
|
NM_000321.3(RB1):c.2320A>T (p.Thr774Ser)
|
|
|
NM_000321.3(RB1):c.2321C>T (p.Thr774Ile)
|
|
|
NM_000321.3(RB1):c.2324G>A (p.Arg775Lys)
|
rs1593539271
|
|
NM_000321.3(RB1):c.2325+1G>A
|
rs1131690882
|
|
NM_000321.3(RB1):c.2325+1G>C
|
rs1131690882
|
|
NM_000321.3(RB1):c.2325+3A>G
|
|
|
NM_000321.3(RB1):c.2325+5G>A
|
rs886042249
|
|
NM_000321.3(RB1):c.2326-4C>G
|
rs1356053052
|
|
NM_000321.3(RB1):c.2326C>G (p.Pro776Ala)
|
|
|
NM_000321.3(RB1):c.2326C>T (p.Pro776Ser)
|
|
|
NM_000321.3(RB1):c.2327C>A (p.Pro776His)
|
rs912203557
|
|
NM_000321.3(RB1):c.2328C>T (p.Pro776=)
|
|
|
NM_000321.3(RB1):c.2333C>T (p.Thr778Ile)
|
rs1593539364
|
|
NM_000321.3(RB1):c.2334C>T (p.Thr778=)
|
rs1593539365
|
|
NM_000321.3(RB1):c.2336T>C (p.Leu779Ser)
|
|
|
NM_000321.3(RB1):c.233G>C (p.Trp78Ser)
|
rs1593414417
|
|
NM_000321.3(RB1):c.2343A>G (p.Pro781=)
|
|
|
NM_000321.3(RB1):c.2345T>C (p.Ile782Thr)
|
rs1949432262
|
|
NM_000321.3(RB1):c.2346dup (p.Pro783fs)
|
|
|
NM_000321.3(RB1):c.2352C>T (p.His784=)
|
|
|
NM_000321.3(RB1):c.2359C>T (p.Arg787Ter)
|
rs137853293
|
|
NM_000321.3(RB1):c.235G>C (p.Glu79Gln)
|
rs1060503090
|
|
NM_000321.3(RB1):c.2363_2384dup (p.Leu797_Arg798insGlnValSerTerProLeu)
|
rs1593539386
|
|
NM_000321.3(RB1):c.2365C>T (p.Pro789Ser)
|
rs1949432512
|
|
NM_000321.3(RB1):c.2366C>A (p.Pro789His)
|
|
|
NM_000321.3(RB1):c.2366C>T (p.Pro789Leu)
|
rs1467492987
|
|
NM_000321.3(RB1):c.2369A>G (p.Tyr790Cys)
|
|
|
NM_000321.3(RB1):c.2372A>G (p.Lys791Arg)
|
rs777670056
|
|
NM_000321.3(RB1):c.2373G>T (p.Lys791Asn)
|
|
|
NM_000321.3(RB1):c.2381G>A (p.Ser794Asn)
|
|
|
NM_000321.3(RB1):c.2382T>C (p.Ser794=)
|
rs1470919585
|
|
NM_000321.3(RB1):c.2392C>A (p.Arg798=)
|
|
|
NM_000321.3(RB1):c.2396T>A (p.Ile799Asn)
|
|
|
NM_000321.3(RB1):c.2396_2398delinsATA (p.Ile799_Pro800delinsAsnThr)
|
|
|
NM_000321.3(RB1):c.2397T>C (p.Ile799=)
|
rs749392116
|
|
NM_000321.3(RB1):c.2398C>A (p.Pro800Thr)
|
|
|
NM_000321.3(RB1):c.2404G>A (p.Gly802Arg)
|
|
|
NM_000321.3(RB1):c.2405G>A (p.Gly802Glu)
|
|
|
NM_000321.3(RB1):c.2406G>A (p.Gly802=)
|
rs866638680
|
|
NM_000321.3(RB1):c.2409C>T (p.Asn803=)
|
rs1379479714
|
|
NM_000321.3(RB1):c.240A>G (p.Lys80=)
|
|
|
NM_000321.3(RB1):c.240A>T (p.Lys80Asn)
|
|
|
NM_000321.3(RB1):c.2412C>A (p.Ile804=)
|
|
|
NM_000321.3(RB1):c.2413_2420del (p.Tyr805fs)
|
rs1131690868
|
|
NM_000321.3(RB1):c.2415T>C (p.Tyr805=)
|
|
|
NM_000321.3(RB1):c.2417T>G (p.Ile806Ser)
|
|
|
NM_000321.3(RB1):c.2418T>C (p.Ile806=)
|
|
|
NM_000321.3(RB1):c.2420C>T (p.Ser807Leu)
|
|
|
NM_000321.3(RB1):c.2422C>T (p.Pro808Ser)
|
|
|
NM_000321.3(RB1):c.2424C>A (p.Pro808=)
|
|
|
NM_000321.3(RB1):c.2424C>G (p.Pro808=)
|
|
|
NM_000321.3(RB1):c.2427G>A (p.Leu809=)
|
rs1279093123
|
|
NM_000321.3(RB1):c.2431A>G (p.Ser811Gly)
|
rs1371240619
|
|
NM_000321.3(RB1):c.2432G>A (p.Ser811Asn)
|
rs1220980701
|
|
NM_000321.3(RB1):c.2439T>A (p.Tyr813Ter)
|
rs774744607
|
|
NM_000321.3(RB1):c.2439T>G (p.Tyr813Ter)
|
rs774744607
|
|
NM_000321.3(RB1):c.2441A>C (p.Lys814Thr)
|
rs1566237785
|
|
NM_000321.3(RB1):c.2441A>G (p.Lys814Arg)
|
rs1566237785
|
|
NM_000321.3(RB1):c.2442A>C (p.Lys814Asn)
|
rs1566237790
|
|
NM_000321.3(RB1):c.2445T>G (p.Ile815Met)
|
|
|
NM_000321.3(RB1):c.244T>A (p.Ser82Thr)
|
|
|
NM_000321.3(RB1):c.2452G>C (p.Gly818Arg)
|
|
|
NM_000321.3(RB1):c.2453G>A (p.Gly818Asp)
|
rs1949433617
|
|
NM_000321.3(RB1):c.2453G>T (p.Gly818Val)
|
|
|
NM_000321.3(RB1):c.2455C>G (p.Leu819Val)
|
rs375751988
|
|
NM_000321.3(RB1):c.2455C>T (p.Leu819=)
|
rs375751988
|
|
NM_000321.3(RB1):c.245C>T (p.Ser82Leu)
|
|
|
NM_000321.3(RB1):c.2465del (p.Pro822fs)
|
rs1131690866
|
|
NM_000321.3(RB1):c.2466A>C (p.Pro822=)
|
|
|
NM_000321.3(RB1):c.2466A>G (p.Pro822=)
|
|
|
NM_000321.3(RB1):c.246A>T (p.Ser82=)
|
|
|
NM_000321.3(RB1):c.2470A>G (p.Lys824Glu)
|
|
|
NM_000321.3(RB1):c.2477C>A (p.Thr826Asn)
|
|
|
NM_000321.3(RB1):c.2479C>T (p.Pro827Ser)
|
|
|
NM_000321.3(RB1):c.2480dup (p.Arg828fs)
|
|
|
NM_000321.3(RB1):c.2481A>G (p.Pro827=)
|
rs1949433968
|
|
NM_000321.3(RB1):c.2484A>G (p.Arg828=)
|
rs1949433985
|
|
NM_000321.3(RB1):c.2489+1G>A
|
rs764754259
|
|
NM_000321.3(RB1):c.2489+1G>C
|
rs764754259
|
|
NM_000321.3(RB1):c.2489+4T>C
|
|
|
NM_000321.3(RB1):c.2489G>A (p.Arg830Lys)
|
|
|
NM_000321.3(RB1):c.2490-28T>G
|
|
|
NM_000321.3(RB1):c.2490-5G>A
|
rs1593544633
|
|
NM_000321.3(RB1):c.2496_2505del (p.Ser834fs)
|
|
|
NM_000321.3(RB1):c.2497G>A (p.Val833Ile)
|
rs2138354621
|
|
NM_000321.3(RB1):c.2499A>G (p.Val833=)
|
|
|
NM_000321.3(RB1):c.24A>C (p.Lys8Asn)
|
|
|
NM_000321.3(RB1):c.2501C>A (p.Ser834Ter)
|
rs1131690906
|
|
NM_000321.3(RB1):c.2502A>G (p.Ser834=)
|
|
|
NM_000321.3(RB1):c.2504T>C (p.Ile835Thr)
|
|
|
NM_000321.3(RB1):c.2511A>G (p.Glu837=)
|
rs1949484299
|
|
NM_000321.3(RB1):c.2513C>A (p.Ser838Ter)
|
rs1131690908
|
|
NM_000321.3(RB1):c.2518G>C (p.Gly840Arg)
|
rs374157786
|
|
NM_000321.3(RB1):c.2518G>T (p.Gly840Trp)
|
rs374157786
|
|
NM_000321.3(RB1):c.2519G>A (p.Gly840Glu)
|
rs1131690900
|
|
NM_000321.3(RB1):c.2520+1G>T
|
rs587778850
|
|
NM_000321.3(RB1):c.2520+1del
|
rs587776779
|
|
NM_000321.3(RB1):c.2520+3G>A
|
rs868434367
|
|
NM_000321.3(RB1):c.2520+3_2520+6del
|
rs1131690858
|
|
NM_000321.3(RB1):c.2520+5G>A
|
rs1131690881
|
|
NM_000321.3(RB1):c.2520+5G>C
|
rs1131690881
|
|
NM_000321.3(RB1):c.2520G>T (p.Gly840=)
|
rs1949484533
|
|
NM_000321.3(RB1):c.2533T>C (p.Phe845Leu)
|
rs754183765
|
|
NM_000321.3(RB1):c.2540A>G (p.Lys847Arg)
|
|
|
NM_000321.3(RB1):c.2551A>G (p.Met851Val)
|
|
|
NM_000321.3(RB1):c.2556A>G (p.Val852=)
|
|
|
NM_000321.3(RB1):c.2557T>G (p.Cys853Gly)
|
rs1295589257
|
|
NM_000321.3(RB1):c.2558G>A (p.Cys853Tyr)
|
rs1566240940
|
|
NM_000321.3(RB1):c.2562C>T (p.Asn854=)
|
|
|
NM_000321.3(RB1):c.2566G>T (p.Asp856Tyr)
|
rs149359120
|
|
NM_000321.3(RB1):c.2569C>T (p.Arg857Cys)
|
|
|
NM_000321.3(RB1):c.2570G>T (p.Arg857Leu)
|
rs144668210
|
|
NM_000321.3(RB1):c.2572G>C (p.Val858Leu)
|
|
|
NM_000321.3(RB1):c.2574G>A (p.Val858=)
|
|
|
NM_000321.3(RB1):c.2575C>T (p.Leu859Phe)
|
|
|
NM_000321.3(RB1):c.2586T>C (p.Ser862=)
|
rs1593547157
|
|
NM_000321.3(RB1):c.2587G>A (p.Ala863Thr)
|
rs1949506505
|
|
NM_000321.3(RB1):c.2588C>A (p.Ala863Asp)
|
|
|
NM_000321.3(RB1):c.2597G>A (p.Ser866Asn)
|
rs1593547165
|
|
NM_000321.3(RB1):c.2598C>T (p.Ser866=)
|
|
|
NM_000321.3(RB1):c.25del (p.Thr9fs)
|
|
|
NM_000321.3(RB1):c.2604T>C (p.Pro868=)
|
|
|
NM_000321.3(RB1):c.2605C>T (p.Pro869Ser)
|
|
|
NM_000321.3(RB1):c.2609A>G (p.Lys870Arg)
|
|
|
NM_000321.3(RB1):c.2611C>A (p.Pro871Thr)
|
|
|
NM_000321.3(RB1):c.2615T>C (p.Leu872Pro)
|
rs1470516350
|
|
NM_000321.3(RB1):c.2616G>A (p.Leu872=)
|
|
|
NM_000321.3(RB1):c.2627G>A (p.Arg876His)
|
rs767232453
|
|
NM_000321.3(RB1):c.2628C>T (p.Arg876=)
|
rs1593547215
|
|
NM_000321.3(RB1):c.2632G>A (p.Asp878Asn)
|
|
|
NM_000321.3(RB1):c.264+182_264+980del
|
|
|
NM_000321.3(RB1):c.264+1G>A
|
rs1131690907
|
|
NM_000321.3(RB1):c.264+5G>C
|
rs1131690853
|
|
NM_000321.3(RB1):c.2642G>A (p.Gly881Glu)
|
|
|
NM_000321.3(RB1):c.2642G>C (p.Gly881Ala)
|
rs1949507139
|
|
NM_000321.3(RB1):c.2646A>C (p.Ser882=)
|
|
|
NM_000321.3(RB1):c.2646A>G (p.Ser882=)
|
|
|
NM_000321.3(RB1):c.2648A>G (p.Asp883Gly)
|
|
|
NM_000321.3(RB1):c.2652A>G (p.Glu884=)
|
rs765537411
|
|
NM_000321.3(RB1):c.2658T>C (p.Asp886=)
|
rs1179137535
|
|
NM_000321.3(RB1):c.266G>A (p.Gly89Glu)
|
rs371655281
|
|
NM_000321.3(RB1):c.2672T>C (p.Leu891Pro)
|
|
|
NM_000321.3(RB1):c.2673C>T (p.Leu891=)
|
|
|
NM_000321.3(RB1):c.2674C>T (p.Pro892Ser)
|
|
|
NM_000321.3(RB1):c.2675C>T (p.Pro892Leu)
|
|
|
NM_000321.3(RB1):c.2685C>G (p.Ser895=)
|
rs2138360868
|
|
NM_000321.3(RB1):c.2694G>A (p.Gln898=)
|
rs757275103
|
|
NM_000321.3(RB1):c.2704G>A (p.Ala902Thr)
|
|
|
NM_000321.3(RB1):c.270T>C (p.Gly90=)
|
rs1593434172
|
|
NM_000321.3(RB1):c.2712G>T (p.Met904Ile)
|
rs1461167778
|
|
NM_000321.3(RB1):c.2714-4C>T
|
rs768351559
|
|
NM_000321.3(RB1):c.2715T>G (p.Thr905=)
|
|
|
NM_000321.3(RB1):c.2720C>A (p.Thr907Asn)
|
|
|
NM_000321.3(RB1):c.2720C>T (p.Thr907Ile)
|
|
|
NM_000321.3(RB1):c.2722C>A (p.Arg908=)
|
|
|
NM_000321.3(RB1):c.2726C>T (p.Thr909Ile)
|
rs761999108
|
|
NM_000321.3(RB1):c.2729G>A (p.Arg910Gln)
|
rs1360367329
|
|
NM_000321.3(RB1):c.2730A>G (p.Arg910=)
|
rs1245341503
|
|
NM_000321.3(RB1):c.2735A>G (p.Gln912Arg)
|
rs1949528429
|
|
NM_000321.3(RB1):c.2737A>G (p.Lys913Glu)
|
|
|
NM_000321.3(RB1):c.2750A>G (p.Asn917Ser)
|
rs1475201975
|
|
NM_000321.3(RB1):c.2755A>G (p.Ser919Gly)
|
rs1555295597
|
|
NM_000321.3(RB1):c.2758A>G (p.Met920Val)
|
|
|
NM_000321.3(RB1):c.2763T>C (p.Asp921=)
|
|
|
NM_000321.3(RB1):c.2764A>G (p.Thr922Ala)
|
rs1949528678
|
|
NM_000321.3(RB1):c.2772C>T (p.Asn924=)
|
rs1949528716
|
|
NM_000321.3(RB1):c.2777A>G (p.Glu926Gly)
|
rs1593549718
|
|
NM_000321.3(RB1):c.277C>T (p.Gln93Ter)
|
rs1131690915
|
|
NM_000321.3(RB1):c.2782A>T (p.Lys928Ter)
|
|
|
NM_000321.3(RB1):c.281dup (p.Lys95fs)
|
rs1131690862
|
|
NM_000321.3(RB1):c.283A>C (p.Lys95Gln)
|
|
|
NM_000321.3(RB1):c.291A>G (p.Glu97=)
|
rs919345517
|
|
NM_000321.3(RB1):c.294G>A (p.Leu98=)
|
rs2138083659
|
|
NM_000321.3(RB1):c.297G>A (p.Trp99Ter)
|
rs794727481
|
|
NM_000321.3(RB1):c.297G>C (p.Trp99Cys)
|
|
|
NM_000321.3(RB1):c.299G>A (p.Gly100Glu)
|
|
|
NM_000321.3(RB1):c.299G>C (p.Gly100Ala)
|
rs886050268
|
|
NM_000321.3(RB1):c.301A>G (p.Ile101Val)
|
rs1555282783
|
|
NM_000321.3(RB1):c.304T>C (p.Cys102Arg)
|
|
|
NM_000321.3(RB1):c.308T>C (p.Ile103Thr)
|
rs1593434231
|
|
NM_000321.3(RB1):c.309C>A (p.Ile103=)
|
rs1593434233
|
|
NM_000321.3(RB1):c.30C>T (p.Ala10=)
|
rs530961288
|
|
NM_000321.3(RB1):c.315T>A (p.Ile105=)
|
|
|
NM_000321.3(RB1):c.315T>C (p.Ile105=)
|
|
|
NM_000321.3(RB1):c.318A>T (p.Ala106=)
|
|
|
NM_000321.3(RB1):c.319G>A (p.Ala107Thr)
|
|
|
NM_000321.3(RB1):c.321A>C (p.Ala107=)
|
rs2138083810
|
|
NM_000321.3(RB1):c.32C>G (p.Ala11Gly)
|
rs899323337
|
|
NM_000321.3(RB1):c.32C>T (p.Ala11Val)
|
|
|
NM_000321.3(RB1):c.333T>C (p.Asp111=)
|
|
|
NM_000321.3(RB1):c.334G>T (p.Glu112Ter)
|
|
|
NM_000321.3(RB1):c.337A>C (p.Met113Leu)
|
rs1593434246
|
|
NM_000321.3(RB1):c.337A>G (p.Met113Val)
|
|
|
NM_000321.3(RB1):c.339G>A (p.Met113Ile)
|
rs1593434250
|
|
NM_000321.3(RB1):c.33C>T (p.Ala11=)
|
rs1593411999
|
|
NM_000321.3(RB1):c.34_36dup (p.Thr12_Ala13insThr)
|
|
|
NM_000321.3(RB1):c.34_42del (p.9TAA[1])
|
rs759465865
|
|
NM_000321.3(RB1):c.34_51del (p.Thr12_Ala17del)
|
|
|
NM_000321.3(RB1):c.357G>T (p.Glu119Asp)
|
rs1593434283
|
|
NM_000321.3(RB1):c.364A>C (p.Lys122Gln)
|
|
|
NM_000321.3(RB1):c.36C>A (p.Thr12=)
|
|
|
NM_000321.3(RB1):c.371T>C (p.Ile124Thr)
|
|
|
NM_000321.3(RB1):c.371_372del (p.Ile124fs)
|
rs1566186125
|
|
NM_000321.3(RB1):c.372A>G (p.Ile124Met)
|
rs1593434342
|
|
NM_000321.3(RB1):c.373G>A (p.Glu125Lys)
|
|
|
NM_000321.3(RB1):c.373G>T (p.Glu125Ter)
|
rs1952457111
|
|
NM_000321.3(RB1):c.375A>G (p.Glu125=)
|
|
|
NM_000321.3(RB1):c.377del (p.Ile126fs)
|
rs2138084130
|
|
NM_000321.3(RB1):c.378C>A (p.Ile126=)
|
|
|
NM_000321.3(RB1):c.380+1G>A
|
rs1131690902
|
|
NM_000321.3(RB1):c.380G>A (p.Ser127Asn)
|
rs1131690843
|
|
NM_000321.3(RB1):c.380G>C (p.Ser127Thr)
|
rs1131690843
|
|
NM_000321.3(RB1):c.381-4G>T
|
|
|
NM_000321.3(RB1):c.382G>A (p.Val128Ile)
|
|
|
NM_000321.3(RB1):c.387T>C (p.His129=)
|
|
|
NM_000321.3(RB1):c.387T>G (p.His129Gln)
|
rs1593435676
|
|
NM_000321.3(RB1):c.389A>C (p.Lys130Thr)
|
rs1593435682
|
|
NM_000321.3(RB1):c.38C>G (p.Ala13Gly)
|
|
|
NM_000321.3(RB1):c.392T>C (p.Phe131Ser)
|
rs1593435687
|
|
NM_000321.3(RB1):c.393C>A (p.Phe131Leu)
|
rs749495284
|
|
NM_000321.3(RB1):c.393C>T (p.Phe131=)
|
|
|
NM_000321.3(RB1):c.396T>C (p.Phe132=)
|
rs768768956
|
|
NM_000321.3(RB1):c.397A>C (p.Asn133His)
|
rs3092900
|
|
NM_000321.3(RB1):c.397A>G (p.Asn133Asp)
|
|
|
NM_000321.3(RB1):c.39C>T (p.Ala13=)
|
|
|
NM_000321.3(RB1):c.400T>G (p.Leu134Val)
|
|
|
NM_000321.3(RB1):c.402A>G (p.Leu134=)
|
rs1566186851
|
|
NM_000321.3(RB1):c.404T>C (p.Leu135Pro)
|
rs1593435713
|
|
NM_000321.3(RB1):c.406A>G (p.Lys136Glu)
|
|
|
NM_000321.3(RB1):c.408A>C (p.Lys136Asn)
|
|
|
NM_000321.3(RB1):c.40_41delinsCT (p.Ala14Leu)
|
|
|
NM_000321.3(RB1):c.420C>A (p.Thr140=)
|
|
|
NM_000321.3(RB1):c.421A>G (p.Ser141Gly)
|
|
|
NM_000321.3(RB1):c.434del (p.Asp145fs)
|
rs1131690912
|
|
NM_000321.3(RB1):c.435T>C (p.Asp145=)
|
|
|
NM_000321.3(RB1):c.436A>C (p.Asn146His)
|
rs1266294051
|
|
NM_000321.3(RB1):c.443del (p.Met148fs)
|
rs1131690867
|
|
NM_000321.3(RB1):c.446C>G (p.Ser149Ter)
|
rs587778870
|
|
NM_000321.3(RB1):c.451C>G (p.Leu151Val)
|
|
|
NM_000321.3(RB1):c.452T>A (p.Leu151Gln)
|
rs2138087581
|
|
NM_000321.3(RB1):c.453_454del (p.Leu152fs)
|
|
|
NM_000321.3(RB1):c.459G>A (p.Lys153=)
|
|
|
NM_000321.3(RB1):c.459G>C (p.Lys153Asn)
|
rs773642334
|
|
NM_000321.3(RB1):c.45T>G (p.Ala15=)
|
|
|
NM_000321.3(RB1):c.45_50del (p.Ala17_Ala18del)
|
|
|
NM_000321.3(RB1):c.45_50dup (p.Ala17_Ala18dup)
|
rs1173330253
|
|
NM_000321.3(RB1):c.45_53del (p.Ala16_Ala18del)
|
rs572454921
|
|
NM_000321.3(RB1):c.464A>G (p.Tyr155Cys)
|
|
|
NM_000321.3(RB1):c.466G>C (p.Asp156His)
|
rs1034616967
|
|
NM_000321.3(RB1):c.466G>T (p.Asp156Tyr)
|
rs1034616967
|
|
NM_000321.3(RB1):c.474G>A (p.Leu158=)
|
rs1319691084
|
|
NM_000321.3(RB1):c.474G>C (p.Leu158Phe)
|
rs1319691084
|
|
NM_000321.3(RB1):c.477T>A (p.Phe159Leu)
|
rs1952481513
|
|
NM_000321.3(RB1):c.480A>G (p.Ala160=)
|
rs776484051
|
|
NM_000321.3(RB1):c.481C>T (p.Leu161Phe)
|
|
|
NM_000321.3(RB1):c.485T>A (p.Phe162Tyr)
|
rs764881599
|
|
NM_000321.3(RB1):c.48C>T (p.Ala16=)
|
|
|
NM_000321.3(RB1):c.496G>T (p.Glu166Ter)
|
rs1131690874
|
|
NM_000321.3(RB1):c.49G>A (p.Ala17Thr)
|
rs1566174092
|
|
NM_000321.3(RB1):c.49G>T (p.Ala17Ser)
|
|
|
NM_000321.3(RB1):c.500+1G>T
|
rs1131690880
|
|
NM_000321.3(RB1):c.500G>A (p.Arg167Lys)
|
|
|
NM_000321.3(RB1):c.500G>C (p.Arg167Thr)
|
|
|
NM_000321.3(RB1):c.501-2A>G
|
|
|
NM_000321.3(RB1):c.503C>T (p.Thr168Ile)
|
|
|
NM_000321.3(RB1):c.506del (p.Cys169fs)
|
|
|
NM_000321.3(RB1):c.50C>T (p.Ala17Val)
|
rs1593412070
|
|
NM_000321.3(RB1):c.514A>G (p.Ile172Val)
|
rs2138091600
|
|
NM_000321.3(RB1):c.514A>T (p.Ile172Leu)
|
|
|
NM_000321.3(RB1):c.515T>C (p.Ile172Thr)
|
rs1952511717
|
|
NM_000321.3(RB1):c.516A>G (p.Ile172Met)
|
|
|
NM_000321.3(RB1):c.519T>C (p.Tyr173=)
|
|
|
NM_000321.3(RB1):c.51C>G (p.Ala17=)
|
rs1593412073
|
|
NM_000321.3(RB1):c.51C>T (p.Ala17=)
|
|
|
NM_000321.3(RB1):c.520T>C (p.Leu174=)
|
|
|
NM_000321.3(RB1):c.524del (p.Thr175fs)
|
|
|
NM_000321.3(RB1):c.526_527del (p.Gln176fs)
|
|
|
NM_000321.3(RB1):c.529C>G (p.Pro177Ala)
|
|
|
NM_000321.3(RB1):c.529C>T (p.Pro177Ser)
|
rs1357310270
|
|
NM_000321.3(RB1):c.530C>G (p.Pro177Arg)
|
rs1952511945
|
|
NM_000321.3(RB1):c.531CAG[1] (p.Ser180del)
|
|
|
NM_000321.3(RB1):c.533G>A (p.Ser178Asn)
|
|
|
NM_000321.3(RB1):c.539+1G>A
|
rs1566187856
|
|
NM_000321.3(RB1):c.539+1G>T
|
|
|
NM_000321.3(RB1):c.539del (p.Ser179_Ser180insTer)
|
rs1131690871
|
|
NM_000321.3(RB1):c.541A>G (p.Ile181Val)
|
rs781708508
|
|
NM_000321.3(RB1):c.545C>T (p.Ser182Phe)
|
|
|
NM_000321.3(RB1):c.548C>T (p.Thr183Ile)
|
rs1952522583
|
|
NM_000321.3(RB1):c.549del (p.Glu184fs)
|
rs1131690887
|
|
NM_000321.3(RB1):c.54_76dup (p.Pro26fs)
|
rs1555279210
|
|
NM_000321.3(RB1):c.54_79del (p.Glu19fs)
|
rs727504120
|
|
NM_000321.3(RB1):c.54_79dup (p.Pro27fs)
|
|
|
NM_000321.3(RB1):c.552A>C (p.Glu184Asp)
|
rs1220347917
|
|
NM_000321.3(RB1):c.554T>G (p.Ile185Arg)
|
|
|
NM_000321.3(RB1):c.557A>G (p.Asn186Ser)
|
|
|
NM_000321.3(RB1):c.55G>T (p.Glu19Ter)
|
|
|
NM_000321.3(RB1):c.560C>G (p.Ser187Cys)
|
rs770277291
|
|
NM_000321.3(RB1):c.562G>A (p.Ala188Thr)
|
rs1189153218
|
|
NM_000321.3(RB1):c.563C>T (p.Ala188Val)
|
rs1593437973
|
|
NM_000321.3(RB1):c.565T>C (p.Leu189=)
|
rs2138093547
|
|
NM_000321.3(RB1):c.56_75dup (p.Pro26fs)
|
|
|
NM_000321.3(RB1):c.570G>A (p.Val190=)
|
rs775061547
|
|
NM_000321.3(RB1):c.575A>G (p.Lys192Arg)
|
|
|
NM_000321.3(RB1):c.577G>C (p.Val193Leu)
|
rs1952523027
|
|
NM_000321.3(RB1):c.578T>C (p.Val193Ala)
|
rs1060503093
|
|
NM_000321.3(RB1):c.583T>G (p.Trp195Gly)
|
|
|
NM_000321.3(RB1):c.58C>T (p.Pro20Ser)
|
|
|
NM_000321.3(RB1):c.590C>A (p.Thr197Lys)
|
rs1131690883
|
|
NM_000321.3(RB1):c.607+1G>A
|
rs587776789
|
|
NM_000321.3(RB1):c.607+1G>C
|
rs587776789
|
|
NM_000321.3(RB1):c.607+1G>T
|
rs587776789
|
|
NM_000321.3(RB1):c.607+2dup
|
rs1131690895
|
|
NM_000321.3(RB1):c.607+5G>A
|
rs2138093817
|
|
NM_000321.3(RB1):c.607G>T (p.Gly203Trp)
|
rs1012377281
|
|
NM_000321.3(RB1):c.608-4del
|
rs762805947
|
|
NM_000321.3(RB1):c.608-4dup
|
rs762805947
|
|
NM_000321.3(RB1):c.608G>A (p.Gly203Glu)
|
rs2138107541
|
|
NM_000321.3(RB1):c.60C>A (p.Pro20=)
|
rs777340111
|
|
NM_000321.3(RB1):c.60C>G (p.Pro20=)
|
rs777340111
|
|
NM_000321.3(RB1):c.611A>G (p.Glu204Gly)
|
|
|
NM_000321.3(RB1):c.615A>G (p.Val205=)
|
|
|
NM_000321.3(RB1):c.616T>C (p.Leu206=)
|
rs886050270
|
|
NM_000321.3(RB1):c.618A>G (p.Leu206=)
|
rs1593443486
|
|
NM_000321.3(RB1):c.621A>G (p.Gln207=)
|
|
|
NM_000321.3(RB1):c.624G>A (p.Met208Ile)
|
|
|
NM_000321.3(RB1):c.62C>T (p.Pro21Leu)
|
rs1444353743
|
|
NM_000321.3(RB1):c.62del (p.Pro21fs)
|
|
|
NM_000321.3(RB1):c.634C>T (p.Leu212=)
|
rs147085238
|
|
NM_000321.3(RB1):c.635del (p.Leu212fs)
|
|
|
NM_000321.3(RB1):c.63G>C (p.Pro21=)
|
|
|
NM_000321.3(RB1):c.644C>A (p.Ser215Ter)
|
rs768305224
|
|
NM_000321.3(RB1):c.644C>T (p.Ser215Leu)
|
rs768305224
|
|
NM_000321.3(RB1):c.660A>G (p.Leu220=)
|
rs886449283
|
|
NM_000321.3(RB1):c.663T>C (p.Cys221=)
|
|
|
NM_000321.3(RB1):c.667del (p.Asp224fs)
|
|
|
NM_000321.3(RB1):c.66A>G (p.Ala22=)
|
rs1014225642
|
|
NM_000321.3(RB1):c.66A>T (p.Ala22=)
|
|
|
NM_000321.3(RB1):c.674A>G (p.Tyr225Cys)
|
rs771567627
|
|
NM_000321.3(RB1):c.679A>G (p.Ile227Val)
|
|
|
NM_000321.3(RB1):c.681del (p.Lys228fs)
|
rs1131690905
|
|
NM_000321.3(RB1):c.683A>G (p.Lys228Arg)
|
|
|
NM_000321.3(RB1):c.687C>G (p.Leu229=)
|
|
|
NM_000321.3(RB1):c.689C>T (p.Ser230Leu)
|
rs1459523811
|
|
NM_000321.3(RB1):c.68C>G (p.Pro23Arg)
|
|
|
NM_000321.3(RB1):c.68C>T (p.Pro23Leu)
|
rs1952053594
|
|
NM_000321.3(RB1):c.693T>C (p.Pro231=)
|
|
|
NM_000321.3(RB1):c.698T>C (p.Met233Thr)
|
|
|
NM_000321.3(RB1):c.699G>A (p.Met233Ile)
|
rs1952626050
|
|
NM_000321.3(RB1):c.69G>A (p.Pro23=)
|
rs746662122
|
|
NM_000321.3(RB1):c.69G>C (p.Pro23=)
|
rs746662122
|
|
NM_000321.3(RB1):c.69GCC[3] (p.Pro29del)
|
rs587778823
|
|
NM_000321.3(RB1):c.69GCC[5] (p.Pro29dup)
|
rs587778823
|
|
NM_000321.3(RB1):c.69GCC[6] (p.Pro28_Pro29dup)
|
rs587778823
|
|
NM_000321.3(RB1):c.700T>G (p.Leu234Val)
|
rs1362138725
|
|
NM_000321.3(RB1):c.702del (p.Leu234fs)
|
rs1131690878
|
|
NM_000321.3(RB1):c.703C>T (p.Leu235Phe)
|
|
|
NM_000321.3(RB1):c.709G>T (p.Glu237Ter)
|
rs1131690904
|
|
NM_000321.3(RB1):c.712C>G (p.Pro238Ala)
|
|
|
NM_000321.3(RB1):c.714A>G (p.Pro238=)
|
|
|
NM_000321.3(RB1):c.715T>C (p.Tyr239His)
|
|
|
NM_000321.3(RB1):c.718+5G>T
|
rs1131690848
|
|
NM_000321.3(RB1):c.718A>G (p.Lys240Glu)
|
rs2138108056
|
|
NM_000321.3(RB1):c.719-4A>G
|
|
|
NM_000321.3(RB1):c.71C>A (p.Pro24Gln)
|
|
|
NM_000321.3(RB1):c.722C>T (p.Thr241Ile)
|
rs1593445085
|
|
NM_000321.3(RB1):c.723A>G (p.Thr241=)
|
|
|
NM_000321.3(RB1):c.724G>A (p.Ala242Thr)
|
|
|
NM_000321.3(RB1):c.727G>C (p.Val243Leu)
|
rs1952655034
|
|
NM_000321.3(RB1):c.72G>A (p.Pro24=)
|
|
|
NM_000321.3(RB1):c.72G>C (p.Pro24=)
|
rs1333596916
|
|
NM_000321.3(RB1):c.731_732delinsATC (p.Ile244fs)
|
rs1131690890
|
|
NM_000321.3(RB1):c.735del (p.Ile246fs)
|
rs1131690847
|
|
NM_000321.3(RB1):c.739A>G (p.Asn247Asp)
|
rs1429451823
|
|
NM_000321.3(RB1):c.741T>C (p.Asn247=)
|
|
|
NM_000321.3(RB1):c.744T>C (p.Gly248=)
|
rs1297277579
|
|
NM_000321.3(RB1):c.745T>A (p.Ser249Thr)
|
rs2138112221
|
|
NM_000321.3(RB1):c.748C>T (p.Pro250Ser)
|
rs1566192505
|
|
NM_000321.3(RB1):c.74C>T (p.Pro25Leu)
|
rs1593412158
|
|
NM_000321.3(RB1):c.751C>G (p.Arg251Gly)
|
|
|
NM_000321.3(RB1):c.751C>T (p.Arg251Ter)
|
rs1131690863
|
|
NM_000321.3(RB1):c.75G>A (p.Pro25=)
|
|
|
NM_000321.3(RB1):c.75G>T (p.Pro25=)
|
|
|
NM_000321.3(RB1):c.760A>G (p.Arg254Gly)
|
rs2138112300
|
|
NM_000321.3(RB1):c.763C>T (p.Arg255Ter)
|
rs587778842
|
|
NM_000321.3(RB1):c.764G>A (p.Arg255Gln)
|
rs746954896
|
|
NM_000321.3(RB1):c.76C>T (p.Pro26Ser)
|
|
|
NM_000321.3(RB1):c.770A>G (p.Gln257Arg)
|
rs1232080974
|
|
NM_000321.3(RB1):c.772_776del (p.Asn258fs)
|
rs1566192530
|
|
NM_000321.3(RB1):c.787A>G (p.Ile263Val)
|
|
|
NM_000321.3(RB1):c.788T>G (p.Ile263Arg)
|
|
|
NM_000321.3(RB1):c.78G>T (p.Pro26=)
|
|
|
NM_000321.3(RB1):c.78_83dup (p.Pro28_Pro29dup)
|
rs1555279223
|
|
NM_000321.3(RB1):c.791C>G (p.Ala264Gly)
|
|
|
NM_000321.3(RB1):c.791C>T (p.Ala264Val)
|
|
|
NM_000321.3(RB1):c.792A>C (p.Ala264=)
|
|
|
NM_000321.3(RB1):c.79C>T (p.Pro27Ser)
|
rs1309325353
|
|
NM_000321.3(RB1):c.807T>G (p.Asn269Lys)
|
rs922948338
|
|
NM_000321.3(RB1):c.810T>C (p.Asp270=)
|
rs1555284937
|
|
NM_000321.3(RB1):c.812C>T (p.Thr271Ile)
|
rs1191072088
|
|
NM_000321.3(RB1):c.814A>G (p.Arg272Gly)
|
rs1555284945
|
|
NM_000321.3(RB1):c.814del (p.Arg272fs)
|
|
|
NM_000321.3(RB1):c.817A>G (p.Ile273Val)
|
|
|
NM_000321.3(RB1):c.81C>T (p.Pro27=)
|
|
|
NM_000321.3(RB1):c.820A>G (p.Ile274Val)
|
|
|
NM_000321.3(RB1):c.82C>A (p.Pro28Thr)
|
|
|
NM_000321.3(RB1):c.83C>T (p.Pro28Leu)
|
rs776175164
|
|
NM_000321.3(RB1):c.841C>T (p.His281Tyr)
|
rs933023013
|
|
NM_000321.3(RB1):c.842A>G (p.His281Arg)
|
|
|
NM_000321.3(RB1):c.843T>C (p.His281=)
|
|
|
NM_000321.3(RB1):c.846del (p.Glu282fs)
|
rs1131690849
|
|
NM_000321.3(RB1):c.84T>A (p.Pro28=)
|
|
|
NM_000321.3(RB1):c.853A>G (p.Ile285Val)
|
rs1593445228
|
|
NM_000321.3(RB1):c.855A>G (p.Ile285Met)
|
rs1566192594
|
|
NM_000321.3(RB1):c.857A>G (p.Asp286Gly)
|
rs1131690864
|
|
NM_000321.3(RB1):c.861+2T>C
|
|
|
NM_000321.3(RB1):c.862-2A>C
|
rs1131690914
|
|
NM_000321.3(RB1):c.863_864del (p.Val288fs)
|
|
|
NM_000321.3(RB1):c.864G>A (p.Val288=)
|
|
|
NM_000321.3(RB1):c.867A>C (p.Lys289Asn)
|
rs1555285126
|
|
NM_000321.3(RB1):c.869del (p.Asn290fs)
|
rs1131690901
|
|
NM_000321.3(RB1):c.871G>A (p.Val291Ile)
|
|
|
NM_000321.3(RB1):c.873T>C (p.Val291=)
|
|
|
NM_000321.3(RB1):c.876T>C (p.Tyr292=)
|
rs2138116341
|
|
NM_000321.3(RB1):c.881A>C (p.Lys294Thr)
|
rs1453047397
|
|
NM_000321.3(RB1):c.884A>G (p.Asn295Ser)
|
rs2138116381
|
|
NM_000321.3(RB1):c.889A>T (p.Ile297Leu)
|
rs1286975378
|
|
NM_000321.3(RB1):c.88G>C (p.Glu30Gln)
|
rs1555279228
|
|
NM_000321.3(RB1):c.893C>A (p.Pro298His)
|
|
|
NM_000321.3(RB1):c.893C>T (p.Pro298Leu)
|
|
|
NM_000321.3(RB1):c.899T>C (p.Met300Thr)
|
|
|
NM_000321.3(RB1):c.905C>A (p.Ser302Tyr)
|
rs1208736713
|
|
NM_000321.3(RB1):c.907C>G (p.Leu303Val)
|
|
|
NM_000321.3(RB1):c.907C>T (p.Leu303Phe)
|
|
|
NM_000321.3(RB1):c.908T>G (p.Leu303Arg)
|
rs900955797
|
|
NM_000321.3(RB1):c.909T>G (p.Leu303=)
|
|
|
NM_000321.3(RB1):c.912A>G (p.Gly304=)
|
rs1593446655
|
|
NM_000321.3(RB1):c.913C>T (p.Leu305Phe)
|
rs1292944238
|
|
NM_000321.3(RB1):c.916G>A (p.Val306Ile)
|
|
|
NM_000321.3(RB1):c.920C>G (p.Thr307Arg)
|
|
|
NM_000321.3(RB1):c.921A>G (p.Thr307=)
|
rs1268911747
|
|
NM_000321.3(RB1):c.923C>T (p.Ser308Phe)
|
|
|
NM_000321.3(RB1):c.925A>G (p.Asn309Asp)
|
|
|
NM_000321.3(RB1):c.926A>G (p.Asn309Ser)
|
rs1952680701
|
|
NM_000321.3(RB1):c.939+5T>G
|
rs1952680873
|
|
NM_000321.3(RB1):c.93G>A (p.Glu31=)
|
|
|
NM_000321.3(RB1):c.940-1G>A
|
rs1131690860
|
|
NM_000321.3(RB1):c.941T>C (p.Val314Ala)
|
|
|
NM_000321.3(RB1):c.947A>G (p.Asn316Ser)
|
rs2138120959
|
|
NM_000321.3(RB1):c.948T>C (p.Asn316=)
|
rs749023632
|
|
NM_000321.3(RB1):c.94G>A (p.Asp32Asn)
|
rs1593412219
|
|
NM_000321.3(RB1):c.957A>G (p.Lys319=)
|
|
|
NM_000321.3(RB1):c.958C>T (p.Arg320Ter)
|
rs121913300
|
|
NM_000321.3(RB1):c.959G>T (p.Arg320Leu)
|
rs760787104
|
|
NM_000321.3(RB1):c.962A>G (p.Tyr321Cys)
|
rs1566194338
|
|
NM_000321.3(RB1):c.963del (p.Arg320_Tyr321insTer)
|
rs1952715820
|
|
NM_000321.3(RB1):c.964G>A (p.Glu322Lys)
|
rs776534331
|
|
NM_000321.3(RB1):c.964G>T (p.Glu322Ter)
|
rs776534331
|
|
NM_000321.3(RB1):c.969A>C (p.Glu323Asp)
|
|
|
NM_000321.3(RB1):c.974A>C (p.Tyr325Ser)
|
|
|
NM_000321.3(RB1):c.976C>T (p.Leu326Phe)
|
rs1566194351
|
|
NM_000321.3(RB1):c.978T>C (p.Leu326=)
|
|
|
NM_000321.3(RB1):c.978T>G (p.Leu326=)
|
rs2138121153
|
|
NM_000321.3(RB1):c.981A>C (p.Lys327Asn)
|
|
|
NM_000321.3(RB1):c.982A>C (p.Asn328His)
|
|
|
NM_000321.3(RB1):c.982_987del (p.Asn328_Lys329del)
|
rs878853952
|
|
NM_000321.3(RB1):c.984T>A (p.Asn328Lys)
|
rs1952716275
|
|
NM_000321.3(RB1):c.987del (p.Asp330fs)
|
|
|
NM_000321.3(RB1):c.989A>T (p.Asp330Val)
|
|
|
NM_000321.3(RB1):c.990T>G (p.Asp330Glu)
|
|
|
NM_000321.3(RB1):c.995del (p.Asp332fs)
|
|
|
NM_000321.3(RB1):c.999A>G (p.Ala333=)
|
|
|
NM_000321.3(RB1):c.99A>G (p.Pro33=)
|
rs1055176035
|
|
NM_000321.3(RB1):c.9C>A (p.Pro3=)
|
|
|
NM_000321.3(RB1):c.9C>T (p.Pro3=)
|
|
|
NM_000321.3(RB1):c.9_42dup (p.Ala15fs)
|
rs1555279195
|
|