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)
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rs587778843
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NM_000321.3(RB1):c.938A>G (p.Glu313Gly)
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NM_000321.3(RB1):c.939+19del
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NM_000321.3(RB1):c.939+1G>A
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rs2138116708
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NM_000321.3(RB1):c.939+1G>C
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rs2138116708
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NM_000321.3(RB1):c.939+2T>C
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rs1952680837
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NM_000321.3(RB1):c.939+3A>T
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rs1555285148
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NM_000321.3(RB1):c.939+5T>G
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rs1952680873
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NM_000321.3(RB1):c.939+8G>C
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NM_000321.3(RB1):c.939G>A (p.Glu313=)
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rs2138116702
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NM_000321.3(RB1):c.940-10_940-9del
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rs774207778
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NM_000321.3(RB1):c.940-11T>G
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NM_000321.3(RB1):c.940-13T>C
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rs2138120882
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NM_000321.3(RB1):c.940-17G>A
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rs2138120867
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NM_000321.3(RB1):c.940-1G>A
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rs1131690860
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NM_000321.3(RB1):c.940-1G>T
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rs1131690860
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NM_000321.3(RB1):c.940-20A>G
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rs2138120861
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NM_000321.3(RB1):c.940-21C>A
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rs559042622
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NM_000321.3(RB1):c.940-5T>C
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rs1289148853
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NM_000321.3(RB1):c.940-8C>A
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NM_000321.3(RB1):c.940-9del
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NM_000321.3(RB1):c.940G>A (p.Val314Ile)
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NM_000321.3(RB1):c.940G>T (p.Val314Phe)
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rs1566194312
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NM_000321.3(RB1):c.941T>C (p.Val314Ala)
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NM_000321.3(RB1):c.947A>G (p.Asn316Ser)
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rs2138120959
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NM_000321.3(RB1):c.948T>C (p.Asn316=)
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rs749023632
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NM_000321.3(RB1):c.949C>T (p.Leu317Phe)
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NM_000321.3(RB1):c.94G>A (p.Asp32Asn)
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rs1593412219
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NM_000321.3(RB1):c.94G>C (p.Asp32His)
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rs1593412219
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NM_000321.3(RB1):c.951T>G (p.Leu317=)
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rs2138120995
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NM_000321.3(RB1):c.951_954del (p.Ser318fs)
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rs1566194323
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NM_000321.3(RB1):c.952T>C (p.Ser318Pro)
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NM_000321.3(RB1):c.953C>G (p.Ser318Cys)
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rs886050271
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NM_000321.3(RB1):c.954T>C (p.Ser318=)
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rs2138121014
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NM_000321.3(RB1):c.954T>G (p.Ser318=)
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NM_000321.3(RB1):c.958C>T (p.Arg320Ter)
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rs121913300
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NM_000321.3(RB1):c.959G>T (p.Arg320Leu)
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rs760787104
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NM_000321.3(RB1):c.961T>C (p.Tyr321His)
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rs2138121056
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NM_000321.3(RB1):c.962A>G (p.Tyr321Cys)
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rs1566194338
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NM_000321.3(RB1):c.963C>G (p.Tyr321Ter)
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rs377235036
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NM_000321.3(RB1):c.963del (p.Arg320_Tyr321insTer)
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rs1952715820
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NM_000321.3(RB1):c.964G>A (p.Glu322Lys)
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rs776534331
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NM_000321.3(RB1):c.967G>T (p.Glu323Ter)
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rs1060503077
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NM_000321.3(RB1):c.969A>C (p.Glu323Asp)
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|
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NM_000321.3(RB1):c.96C>A (p.Asp32Glu)
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|
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NM_000321.3(RB1):c.970A>G (p.Ile324Val)
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|
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NM_000321.3(RB1):c.971T>C (p.Ile324Thr)
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NM_000321.3(RB1):c.976C>T (p.Leu326Phe)
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rs1566194351
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NM_000321.3(RB1):c.977T>C (p.Leu326Pro)
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|
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NM_000321.3(RB1):c.978T>G (p.Leu326=)
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rs2138121153
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NM_000321.3(RB1):c.979A>G (p.Lys327Glu)
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|
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NM_000321.3(RB1):c.979_1033dup (p.Thr345delinsLysLysTer)
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rs1555285429
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NM_000321.3(RB1):c.97C>T (p.Pro33Ser)
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|
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NM_000321.3(RB1):c.982_987del (p.Asn328_Lys329del)
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rs878853952
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NM_000321.3(RB1):c.983del (p.Asn328fs)
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rs2138121175
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NM_000321.3(RB1):c.983dup (p.Asn328fs)
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rs2138121175
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NM_000321.3(RB1):c.984T>A (p.Asn328Lys)
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rs1952716275
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NM_000321.3(RB1):c.985A>C (p.Lys329Gln)
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rs2138121199
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NM_000321.3(RB1):c.988G>C (p.Asp330His)
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|
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NM_000321.3(RB1):c.98C>T (p.Pro33Leu)
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rs1201977804
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NM_000321.3(RB1):c.98dup (p.Glu34fs)
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rs1952054473
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NM_000321.3(RB1):c.990T>A (p.Asp330Glu)
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rs2138121244
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NM_000321.3(RB1):c.993A>G (p.Leu331=)
|
|
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NM_000321.3(RB1):c.994G>A (p.Asp332Asn)
|
|
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NM_000321.3(RB1):c.998C>A (p.Ala333Glu)
|
|
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NM_000321.3(RB1):c.99A>G (p.Pro33=)
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rs1055176035
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NM_000321.3(RB1):c.9C>T (p.Pro3=)
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|
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NM_000321.3(RB1):c.9_10delinsGG (p.Lys4Glu)
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NM_000321.3:c.2265_2343delinsAT
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RB1, 5-BP DEL, EX8
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