NM_000321.3(RB1):c.2212-16T>A
|
rs201258424
|
0.01386
|
NM_000321.3(RB1):c.1390-11A>G
|
rs200658795
|
0.00365
|
NM_000321.3(RB1):c.2212-15A>G
|
rs372815788
|
0.00212
|
NM_000321.3(RB1):c.2566G>A (p.Asp856Asn)
|
rs149359120
|
0.00075
|
NM_000321.3(RB1):c.1966C>T (p.Arg656Trp)
|
rs142509759
|
0.00059
|
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.929G>A (p.Gly310Glu)
|
rs200844292
|
0.00029
|
NM_000321.3(RB1):c.1390-17T>A
|
rs794727138
|
0.00017
|
NM_000321.3(RB1):c.-69G>C
|
rs753117180
|
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.59C>T (p.Pro20Leu)
|
rs587778637
|
0.00011
|
NM_000321.3(RB1):c.367A>G (p.Asn123Asp)
|
rs149800437
|
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.2464C>G (p.Pro822Ala)
|
rs368413787
|
0.00008
|
NM_000321.3(RB1):c.2360G>A (p.Arg787Gln)
|
rs748094394
|
0.00006
|
NM_000321.3(RB1):c.2003G>A (p.Arg668His)
|
rs551747882
|
0.00005
|
NM_000321.3(RB1):c.*1707C>T
|
rs755984043
|
0.00004
|
NM_000321.3(RB1):c.16C>T (p.Pro6Ser)
|
rs886043138
|
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.2221C>T (p.Arg741Cys)
|
rs529366765
|
0.00004
|
NM_000321.3(RB1):c.2490-1470G>A
|
rs183939957
|
0.00004
|
NM_000321.3(RB1):c.2759T>C (p.Met920Thr)
|
rs148501460
|
0.00004
|
NM_000321.3(RB1):c.462G>A (p.Lys154=)
|
rs369830657
|
0.00004
|
NM_000321.3(RB1):c.731T>C (p.Ile244Thr)
|
rs147754935
|
0.00004
|
NM_000321.3(RB1):c.941T>A (p.Val314Asp)
|
rs780006952
|
0.00004
|
NM_000321.3(RB1):c.*162T>G
|
rs886050273
|
0.00003
|
NM_000321.3(RB1):c.109A>G (p.Ser37Gly)
|
rs896487590
|
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.2626C>T (p.Arg876Cys)
|
rs143105337
|
0.00003
|
NM_000321.3(RB1):c.80C>G (p.Pro27Arg)
|
rs925399787
|
0.00003
|
NM_000321.3(RB1):c.-11G>A
|
rs1376823332
|
0.00002
|
NM_000321.3(RB1):c.-1C>T
|
rs754354560
|
0.00002
|
NM_000321.3(RB1):c.1083C>A (p.Asn361Lys)
|
rs976503237
|
0.00002
|
NM_000321.3(RB1):c.1240A>C (p.Ser414Arg)
|
rs974956317
|
0.00002
|
NM_000321.3(RB1):c.1318G>A (p.Glu440Lys)
|
rs1060503078
|
0.00002
|
NM_000321.3(RB1):c.2222G>A (p.Arg741His)
|
rs764520289
|
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.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.761G>A (p.Arg254Lys)
|
rs200674097
|
0.00002
|
NM_000321.3(RB1):c.850A>G (p.Asn284Asp)
|
rs761609284
|
0.00002
|
NM_000321.3(RB1):c.897T>A (p.Phe299Leu)
|
rs772362181
|
0.00002
|
NM_000321.3(RB1):c.*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.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.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+3A>G
|
rs1254191370
|
0.00001
|
NM_000321.3(RB1):c.1223C>T (p.Thr408Ile)
|
rs1462238834
|
0.00001
|
NM_000321.3(RB1):c.1268G>A (p.Gly423Glu)
|
rs748635133
|
0.00001
|
NM_000321.3(RB1):c.1325G>C (p.Gly442Ala)
|
rs1370947947
|
0.00001
|
NM_000321.3(RB1):c.1334G>A (p.Arg445Gln)
|
rs747509282
|
0.00001
|
NM_000321.3(RB1):c.1351C>T (p.Arg451Cys)
|
rs759079385
|
0.00001
|
NM_000321.3(RB1):c.1361A>G (p.Tyr454Cys)
|
rs1281607292
|
0.00001
|
NM_000321.3(RB1):c.1364G>A (p.Arg455Gln)
|
rs769425649
|
0.00001
|
NM_000321.3(RB1):c.1378A>G (p.Met460Val)
|
rs1258210045
|
0.00001
|
NM_000321.3(RB1):c.1389A>G (p.Ser463=)
|
rs1486168292
|
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.1421+6T>C
|
rs768192190
|
0.00001
|
NM_000321.3(RB1):c.1451T>C (p.Met484Thr)
|
rs1948522862
|
0.00001
|
NM_000321.3(RB1):c.1486G>T (p.Ala496Ser)
|
rs1366675428
|
0.00001
|
NM_000321.3(RB1):c.1489A>G (p.Thr497Ala)
|
rs776531398
|
0.00001
|
NM_000321.3(RB1):c.148G>C (p.Glu50Gln)
|
rs1060503085
|
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.1617A>C (p.Glu539Asp)
|
rs371031574
|
0.00001
|
NM_000321.3(RB1):c.161A>G (p.Glu54Gly)
|
rs1952089249
|
0.00001
|
NM_000321.3(RB1):c.1655G>A (p.Arg552Gln)
|
rs146236493
|
0.00001
|
NM_000321.3(RB1):c.1667G>A (p.Arg556Gln)
|
rs773116120
|
0.00001
|
NM_000321.3(RB1):c.1681C>T (p.Leu561Phe)
|
rs761257231
|
0.00001
|
NM_000321.3(RB1):c.1696-4A>G
|
rs143685082
|
0.00001
|
NM_000321.3(RB1):c.1736G>A (p.Arg579Gln)
|
rs751560923
|
0.00001
|
NM_000321.3(RB1):c.1741G>A (p.Gly581Arg)
|
rs375645171
|
0.00001
|
NM_000321.3(RB1):c.1750G>T (p.Asp584Tyr)
|
rs1343212063
|
0.00001
|
NM_000321.3(RB1):c.175G>C (p.Ala59Pro)
|
rs184754468
|
0.00001
|
NM_000321.3(RB1):c.1778A>G (p.Asn593Ser)
|
rs138033832
|
0.00001
|
NM_000321.3(RB1):c.1780C>T (p.Leu594Phe)
|
rs1361971661
|
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.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.1997G>T (p.Cys666Phe)
|
rs1160394123
|
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.2066A>G (p.Gln689Arg)
|
rs1447082021
|
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.2107-13A>C
|
rs773509289
|
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.2186A>C (p.Lys729Thr)
|
rs150600740
|
0.00001
|
NM_000321.3(RB1):c.2198A>T (p.His733Leu)
|
rs778503152
|
0.00001
|
NM_000321.3(RB1):c.2242G>A (p.Glu748Lys)
|
rs121913297
|
0.00001
|
NM_000321.3(RB1):c.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.2332A>G (p.Thr778Ala)
|
rs878853950
|
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.2418T>G (p.Ile806Met)
|
rs1368593116
|
0.00001
|
NM_000321.3(RB1):c.2521-7T>A
|
rs371150038
|
0.00001
|
NM_000321.3(RB1):c.2557T>C (p.Cys853Arg)
|
rs1295589257
|
0.00001
|
NM_000321.3(RB1):c.2568C>A (p.Asp856Glu)
|
rs1566240957
|
0.00001
|
NM_000321.3(RB1):c.2569C>G (p.Arg857Gly)
|
rs1032510984
|
0.00001
|
NM_000321.3(RB1):c.2620A>C (p.Lys874Gln)
|
rs757818801
|
0.00001
|
NM_000321.3(RB1):c.2636T>C (p.Ile879Thr)
|
rs764140783
|
0.00001
|
NM_000321.3(RB1):c.2639A>C (p.Glu880Ala)
|
rs1259535894
|
0.00001
|
NM_000321.3(RB1):c.2653G>A (p.Ala885Thr)
|
rs752897010
|
0.00001
|
NM_000321.3(RB1):c.2656G>A (p.Asp886Asn)
|
rs1460190600
|
0.00001
|
NM_000321.3(RB1):c.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.2714-12T>A
|
rs759312873
|
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.299G>T (p.Gly100Val)
|
rs886050268
|
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.393C>G (p.Phe131Leu)
|
rs749495284
|
0.00001
|
NM_000321.3(RB1):c.395T>A (p.Phe132Tyr)
|
rs762380973
|
0.00001
|
NM_000321.3(RB1):c.424A>G (p.Thr142Ala)
|
rs1307149332
|
0.00001
|
NM_000321.3(RB1):c.501-3C>T
|
rs773662417
|
0.00001
|
NM_000321.3(RB1):c.506G>A (p.Cys169Tyr)
|
rs1251503080
|
0.00001
|
NM_000321.3(RB1):c.536G>T (p.Ser179Ile)
|
rs1566187849
|
0.00001
|
NM_000321.3(RB1):c.539C>T (p.Ser180Leu)
|
rs367654488
|
0.00001
|
NM_000321.3(RB1):c.547A>G (p.Thr183Ala)
|
rs1593437952
|
0.00001
|
NM_000321.3(RB1):c.560C>T (p.Ser187Phe)
|
rs770277291
|
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.694C>T (p.Pro232Ser)
|
rs1195873978
|
0.00001
|
NM_000321.3(RB1):c.697A>G (p.Met233Val)
|
rs770860809
|
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.784C>T (p.Arg262Trp)
|
rs556201144
|
0.00001
|
NM_000321.3(RB1):c.785G>A (p.Arg262Gln)
|
rs752342013
|
0.00001
|
NM_000321.3(RB1):c.86C>T (p.Pro29Leu)
|
rs938094455
|
0.00001
|
NM_000321.3(RB1):c.891A>G (p.Ile297Met)
|
rs1952680086
|
0.00001
|
NM_000321.3(RB1):c.898A>C (p.Met300Leu)
|
rs1060503086
|
0.00001
|
NM_000321.3(RB1):c.89A>C (p.Glu30Ala)
|
rs1482284498
|
0.00001
|
NM_000321.3(RB1):c.905C>T (p.Ser302Phe)
|
rs1208736713
|
0.00001
|
NM_000321.3(RB1):c.958C>G (p.Arg320Gly)
|
rs121913300
|
0.00001
|
NM_000321.3(RB1):c.98C>G (p.Pro33Arg)
|
rs1201977804
|
0.00001
|
NC_000013.10:g.(?_48921946)_(48922009_?)del
|
|
|
NC_000013.10:g.(?_48939020)_(48939117_?)del
|
|
|
NC_000013.10:g.(?_49027115)_(49047536_?)dup
|
|
|
NC_000013.10:g.(?_49027115)_(49054207_?)dup
|
|
|
NC_000013.10:g.(?_49046098)_(49054207_?)dup
|
|
|
NC_000013.11:g.48303704A>G
|
rs1952048465
|
|
NC_000013.11:g.48303711G>A
|
|
|
NC_000013.11:g.48303712G>T
|
|
|
NC_000013.11:g.48303740A>T
|
|
|
NC_000013.11:g.48303741C>T
|
|
|
NC_000013.11:g.48303742G>A
|
|
|
NC_000013.11:g.48303745G>A
|
|
|
NM_000321.2(RB1):c.-165C>T
|
|
|
NM_000321.2(RB1):c.2084T>G (p.Met695Arg)
|
rs727504122
|
|
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>C
|
|
|
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.-2T>A
|
|
|
NM_000321.3(RB1):c.-2T>C
|
|
|
NM_000321.3(RB1):c.-2T>G
|
rs1466986201
|
|
NM_000321.3(RB1):c.-2_8del (p.Met1fs)
|
|
|
NM_000321.3(RB1):c.-37C>A
|
|
|
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.1001G>A (p.Arg334Lys)
|
|
|
NM_000321.3(RB1):c.1006T>C (p.Phe336Leu)
|
|
|
NM_000321.3(RB1):c.1007T>G (p.Phe336Cys)
|
|
|
NM_000321.3(RB1):c.100G>C (p.Glu34Gln)
|
rs2138027798
|
|
NM_000321.3(RB1):c.1010T>G (p.Leu337Trp)
|
|
|
NM_000321.3(RB1):c.1011G>A (p.Leu337=)
|
|
|
NM_000321.3(RB1):c.1012G>A (p.Asp338Asn)
|
|
|
NM_000321.3(RB1):c.1016A>G (p.His339Arg)
|
rs1566194383
|
|
NM_000321.3(RB1):c.1020T>A (p.Asp340Glu)
|
|
|
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.1025C>T (p.Thr342Ile)
|
|
|
NM_000321.3(RB1):c.102G>C (p.Glu34Asp)
|
rs1952054573
|
|
NM_000321.3(RB1):c.1030C>A (p.Gln344Lys)
|
|
|
NM_000321.3(RB1):c.1031A>G (p.Gln344Arg)
|
rs1566194400
|
|
NM_000321.3(RB1):c.1033A>T (p.Thr345Ser)
|
|
|
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.1037A>G (p.Asp346Gly)
|
|
|
NM_000321.3(RB1):c.103C>G (p.Gln35Glu)
|
|
|
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+5T>C
|
|
|
NM_000321.3(RB1):c.1049+5T>G
|
rs1593448511
|
|
NM_000321.3(RB1):c.1049G>A (p.Ser350Asn)
|
|
|
NM_000321.3(RB1):c.1050-11T>G
|
|
|
NM_000321.3(RB1):c.1050-5T>C
|
|
|
NM_000321.3(RB1):c.1050T>G (p.Ser350Arg)
|
|
|
NM_000321.3(RB1):c.1051T>G (p.Phe351Val)
|
|
|
NM_000321.3(RB1):c.1054G>C (p.Glu352Gln)
|
|
|
NM_000321.3(RB1):c.1057A>G (p.Thr353Ala)
|
|
|
NM_000321.3(RB1):c.1061A>C (p.Gln354Pro)
|
|
|
NM_000321.3(RB1):c.1065A>T (p.Arg355Ser)
|
|
|
NM_000321.3(RB1):c.1066A>C (p.Thr356Pro)
|
rs2138123180
|
|
NM_000321.3(RB1):c.1067CAC[1] (p.Pro357del)
|
|
|
NM_000321.3(RB1):c.1069C>A (p.Pro357Thr)
|
|
|
NM_000321.3(RB1):c.106G>C (p.Asp36His)
|
|
|
NM_000321.3(RB1):c.1072C>G (p.Arg358Gly)
|
rs121913301
|
|
NM_000321.3(RB1):c.1073G>T (p.Arg358Leu)
|
|
|
NM_000321.3(RB1):c.1078A>T (p.Ser360Cys)
|
rs1593449010
|
|
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.1082A>C (p.Asn361Thr)
|
|
|
NM_000321.3(RB1):c.1084C>T (p.Leu362Phe)
|
rs1952727001
|
|
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.1102G>A (p.Val368Ile)
|
rs1049721
|
|
NM_000321.3(RB1):c.1102G>T (p.Val368Leu)
|
rs1049721
|
|
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.1111C>T (p.Pro371Ser)
|
rs1952727399
|
|
NM_000321.3(RB1):c.1115A>G (p.His372Arg)
|
|
|
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.111C>A (p.Ser37Arg)
|
|
|
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+5G>A
|
|
|
NM_000321.3(RB1):c.1127G>A (p.Arg376Lys)
|
rs1952727608
|
|
NM_000321.3(RB1):c.1128-3T>C
|
rs2138130844
|
|
NM_000321.3(RB1):c.112G>A (p.Gly38Ser)
|
|
|
NM_000321.3(RB1):c.1132G>A (p.Val378Ile)
|
|
|
NM_000321.3(RB1):c.1135A>G (p.Met379Val)
|
|
|
NM_000321.3(RB1):c.1138A>G (p.Asn380Asp)
|
|
|
NM_000321.3(RB1):c.1142C>T (p.Thr381Ile)
|
|
|
NM_000321.3(RB1):c.1148A>G (p.Gln383Arg)
|
rs2138131004
|
|
NM_000321.3(RB1):c.1158G>T (p.Met386Ile)
|
|
|
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.1162A>T (p.Ile388Phe)
|
|
|
NM_000321.3(RB1):c.1163T>C (p.Ile388Thr)
|
rs373623059
|
|
NM_000321.3(RB1):c.1163_1168dup (p.Ile388_Leu389dup)
|
rs1375214454
|
|
NM_000321.3(RB1):c.1167A>C (p.Leu389Phe)
|
rs1952784310
|
|
NM_000321.3(RB1):c.1168A>C (p.Asn390His)
|
|
|
NM_000321.3(RB1):c.116C>G (p.Pro39Arg)
|
|
|
NM_000321.3(RB1):c.1171T>A (p.Ser391Thr)
|
|
|
NM_000321.3(RB1):c.1172C>T (p.Ser391Leu)
|
rs2138131143
|
|
NM_000321.3(RB1):c.1175C>G (p.Ala392Gly)
|
|
|
NM_000321.3(RB1):c.1177A>G (p.Ser393Gly)
|
|
|
NM_000321.3(RB1):c.1178G>A (p.Ser393Asn)
|
|
|
NM_000321.3(RB1):c.1181A>G (p.Asp394Gly)
|
|
|
NM_000321.3(RB1):c.1181A>T (p.Asp394Val)
|
|
|
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.1195A>G (p.Asn399Asp)
|
rs2138131269
|
|
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.1207T>A (p.Tyr403Asn)
|
rs2138131325
|
|
NM_000321.3(RB1):c.1207T>C (p.Tyr403His)
|
|
|
NM_000321.3(RB1):c.1208A>G (p.Tyr403Cys)
|
|
|
NM_000321.3(RB1):c.120G>T (p.Glu40Asp)
|
|
|
NM_000321.3(RB1):c.1215+1G>A
|
rs587776783
|
|
NM_000321.3(RB1):c.1216-17_1216-16delinsTG
|
|
|
NM_000321.3(RB1):c.1216-28_1216-3del
|
|
|
NM_000321.3(RB1):c.1218C>G (p.Asn406Lys)
|
|
|
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.1220G>A (p.Cys407Tyr)
|
|
|
NM_000321.3(RB1):c.1223C>G (p.Thr408Arg)
|
|
|
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.1234A>G (p.Lys412Glu)
|
|
|
NM_000321.3(RB1):c.1236A>C (p.Lys412Asn)
|
|
|
NM_000321.3(RB1):c.1238A>C (p.Glu413Ala)
|
rs1462517568
|
|
NM_000321.3(RB1):c.1238A>G (p.Glu413Gly)
|
|
|
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.1246C>A (p.Leu416Met)
|
|
|
NM_000321.3(RB1):c.1247T>C (p.Leu416Pro)
|
|
|
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.1253G>A (p.Arg418Lys)
|
rs1952831579
|
|
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.1265T>C (p.Ile422Thr)
|
|
|
NM_000321.3(RB1):c.1266A>G (p.Ile422Met)
|
|
|
NM_000321.3(RB1):c.1267G>A (p.Gly423Arg)
|
rs2138136425
|
|
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.1280A>G (p.Lys427Arg)
|
|
|
NM_000321.3(RB1):c.1282G>C (p.Glu428Gln)
|
|
|
NM_000321.3(RB1):c.1283A>G (p.Glu428Gly)
|
rs1952831856
|
|
NM_000321.3(RB1):c.1284G>T (p.Glu428Asp)
|
|
|
NM_000321.3(RB1):c.1287A>C (p.Lys429Asn)
|
|
|
NM_000321.3(RB1):c.128C>G (p.Pro43Arg)
|
rs1555279239
|
|
NM_000321.3(RB1):c.128C>T (p.Pro43Leu)
|
|
|
NM_000321.3(RB1):c.1291G>A (p.Ala431Thr)
|
rs965729205
|
|
NM_000321.3(RB1):c.1294A>G (p.Lys432Glu)
|
|
|
NM_000321.3(RB1):c.1297G>A (p.Ala433Thr)
|
rs1166566395
|
|
NM_000321.3(RB1):c.1309G>T (p.Gly437Cys)
|
|
|
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>A (p.Gly437Asp)
|
|
|
NM_000321.3(RB1):c.1310G>C (p.Gly437Ala)
|
|
|
NM_000321.3(RB1):c.1310G>T (p.Gly437Val)
|
rs1952832211
|
|
NM_000321.3(RB1):c.1313G>A (p.Cys438Tyr)
|
rs1952832267
|
|
NM_000321.3(RB1):c.1313G>T (p.Cys438Phe)
|
rs1952832267
|
|
NM_000321.3(RB1):c.1322T>C (p.Ile441Thr)
|
|
|
NM_000321.3(RB1):c.1330C>A (p.Gln444Lys)
|
|
|
NM_000321.3(RB1):c.1332+3A>T
|
rs1952832685
|
|
NM_000321.3(RB1):c.1332+4A>G
|
rs2138136847
|
|
NM_000321.3(RB1):c.1333-13T>A
|
|
|
NM_000321.3(RB1):c.1333-9dup
|
rs766968771
|
|
NM_000321.3(RB1):c.1336T>A (p.Tyr446Asn)
|
|
|
NM_000321.3(RB1):c.1336T>C (p.Tyr446His)
|
rs1948513840
|
|
NM_000321.3(RB1):c.1337A>G (p.Tyr446Cys)
|
|
|
NM_000321.3(RB1):c.133G>C (p.Val45Leu)
|
|
|
NM_000321.3(RB1):c.133G>T (p.Val45Phe)
|
|
|
NM_000321.3(RB1):c.1343T>A (p.Leu448His)
|
|
|
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.1355T>G (p.Leu452Trp)
|
rs2138140900
|
|
NM_000321.3(RB1):c.1356G>T (p.Leu452Phe)
|
rs201285819
|
|
NM_000321.3(RB1):c.1360_1363delinsGGAATCCATG (p.Tyr454_Arg455delinsGlyIleHisGly)
|
|
|
NM_000321.3(RB1):c.1364G>C (p.Arg455Pro)
|
rs769425649
|
|
NM_000321.3(RB1):c.1364G>T (p.Arg455Leu)
|
|
|
NM_000321.3(RB1):c.1369A>G (p.Met457Val)
|
|
|
NM_000321.3(RB1):c.137+3G>A
|
|
|
NM_000321.3(RB1):c.137+4A>G
|
rs2138028119
|
|
NM_000321.3(RB1):c.137+6C>G
|
rs1273298763
|
|
NM_000321.3(RB1):c.1370T>C (p.Met457Thr)
|
|
|
NM_000321.3(RB1):c.1371G>A (p.Met457Ile)
|
rs1948514269
|
|
NM_000321.3(RB1):c.1373A>C (p.Glu458Ala)
|
rs1948514334
|
|
NM_000321.3(RB1):c.1374A>C (p.Glu458Asp)
|
|
|
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.1380G>A (p.Met460Ile)
|
rs1948514475
|
|
NM_000321.3(RB1):c.1389+4A>T
|
|
|
NM_000321.3(RB1):c.1389+6T>G
|
rs2138141082
|
|
NM_000321.3(RB1):c.1390-3C>A
|
|
|
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.1395A>C (p.Glu465Asp)
|
|
|
NM_000321.3(RB1):c.1399C>G (p.Arg467Gly)
|
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.1400G>T (p.Arg467Leu)
|
|
|
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.1408A>T (p.Ile470Phe)
|
|
|
NM_000321.3(RB1):c.1409T>G (p.Ile470Ser)
|
|
|
NM_000321.3(RB1):c.140T>C (p.Leu47Pro)
|
|
|
NM_000321.3(RB1):c.140T>G (p.Leu47Arg)
|
rs2138033812
|
|
NM_000321.3(RB1):c.1410T>G (p.Ile470Met)
|
rs578226820
|
|
NM_000321.3(RB1):c.1412A>G (p.Gln471Arg)
|
rs1948520103
|
|
NM_000321.3(RB1):c.1412A>T (p.Gln471Leu)
|
|
|
NM_000321.3(RB1):c.1420A>T (p.Ser474Cys)
|
|
|
NM_000321.3(RB1):c.1421+4_1421+29del
|
rs2138142387
|
|
NM_000321.3(RB1):c.1421+5A>G
|
|
|
NM_000321.3(RB1):c.1422-4T>G
|
rs201554179
|
|
NM_000321.3(RB1):c.1424A>C (p.Lys475Thr)
|
rs1593456261
|
|
NM_000321.3(RB1):c.1424A>G (p.Lys475Arg)
|
rs1593456261
|
|
NM_000321.3(RB1):c.1429C>A (p.Leu477Met)
|
|
|
NM_000321.3(RB1):c.1436A>G (p.Asp479Gly)
|
rs2138142793
|
|
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.1448A>T (p.His483Leu)
|
rs1948522736
|
|
NM_000321.3(RB1):c.1450A>G (p.Met484Val)
|
|
|
NM_000321.3(RB1):c.1452G>A (p.Met484Ile)
|
|
|
NM_000321.3(RB1):c.1453T>A (p.Ser485Thr)
|
|
|
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.1462G>A (p.Ala488Thr)
|
|
|
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.1471C>T (p.Leu491Phe)
|
|
|
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.1486G>C (p.Ala496Pro)
|
|
|
NM_000321.3(RB1):c.1492T>A (p.Tyr498Asn)
|
|
|
NM_000321.3(RB1):c.1493A>G (p.Tyr498Cys)
|
rs1948523564
|
|
NM_000321.3(RB1):c.1496G>A (p.Ser499Asn)
|
rs774706300
|
|
NM_000321.3(RB1):c.1496G>C (p.Ser499Thr)
|
|
|
NM_000321.3(RB1):c.1498+4A>G
|
|
|
NM_000321.3(RB1):c.1498+4A>T
|
|
|
NM_000321.3(RB1):c.1498+6T>A
|
rs2138143240
|
|
NM_000321.3(RB1):c.1498A>C (p.Arg500=)
|
rs1593456364
|
|
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.1504A>G (p.Thr502Ala)
|
rs2138144826
|
|
NM_000321.3(RB1):c.1506A>G (p.Thr502=)
|
rs1060503081
|
|
NM_000321.3(RB1):c.1514A>C (p.Asn505Thr)
|
rs1948533141
|
|
NM_000321.3(RB1):c.1517T>C (p.Leu506Pro)
|
|
|
NM_000321.3(RB1):c.1519G>A (p.Asp507Asn)
|
|
|
NM_000321.3(RB1):c.1519G>C (p.Asp507His)
|
rs2138144909
|
|
NM_000321.3(RB1):c.1522T>G (p.Ser508Ala)
|
|
|
NM_000321.3(RB1):c.1523C>T (p.Ser508Phe)
|
rs1204086259
|
|
NM_000321.3(RB1):c.1526G>C (p.Gly509Ala)
|
rs1555286684
|
|
NM_000321.3(RB1):c.1529C>A (p.Thr510Lys)
|
|
|
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.1533T>A (p.Asp511Glu)
|
rs2138144990
|
|
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.1550T>A (p.Ile517Asn)
|
|
|
NM_000321.3(RB1):c.1553T>C (p.Leu518Pro)
|
|
|
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.1564A>C (p.Asn522His)
|
|
|
NM_000321.3(RB1):c.1564A>G (p.Asn522Asp)
|
rs2138145139
|
|
NM_000321.3(RB1):c.156_164del (p.Glu53_Pro55del)
|
|
|
NM_000321.3(RB1):c.1574C>A (p.Ala525Asp)
|
rs4151539
|
|
NM_000321.3(RB1):c.1574C>T (p.Ala525Val)
|
rs4151539
|
|
NM_000321.3(RB1):c.1576T>C (p.Phe526Leu)
|
|
|
NM_000321.3(RB1):c.157G>C (p.Glu53Gln)
|
|
|
NM_000321.3(RB1):c.157GAA[1] (p.Glu54del)
|
rs1952089186
|
|
NM_000321.3(RB1):c.1581T>A (p.Asp527Glu)
|
rs1336947639
|
|
NM_000321.3(RB1):c.158A>C (p.Glu53Ala)
|
|
|
NM_000321.3(RB1):c.1592T>C (p.Val531Ala)
|
|
|
NM_000321.3(RB1):c.1592T>G (p.Val531Gly)
|
|
|
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.1597G>A (p.Glu533Lys)
|
rs1237070816
|
|
NM_000321.3(RB1):c.1597G>C (p.Glu533Gln)
|
rs1237070816
|
|
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.1613C>T (p.Ala538Val)
|
|
|
NM_000321.3(RB1):c.1619G>A (p.Gly540Asp)
|
|
|
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.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.1645C>G (p.His549Asp)
|
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.164C>T (p.Pro55Leu)
|
|
|
NM_000321.3(RB1):c.1651G>A (p.Glu551Lys)
|
rs147534828
|
|
NM_000321.3(RB1):c.1655G>T (p.Arg552Leu)
|
|
|
NM_000321.3(RB1):c.1657T>A (p.Cys553Ser)
|
rs1948534757
|
|
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.1667G>T (p.Arg556Leu)
|
rs773116120
|
|
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.1673T>C (p.Met558Thr)
|
|
|
NM_000321.3(RB1):c.1675G>A (p.Glu559Lys)
|
|
|
NM_000321.3(RB1):c.1675G>C (p.Glu559Gln)
|
rs1131690869
|
|
NM_000321.3(RB1):c.1678T>A (p.Ser560Thr)
|
|
|
NM_000321.3(RB1):c.1678T>C (p.Ser560Pro)
|
rs1593457138
|
|
NM_000321.3(RB1):c.1684G>A (p.Ala562Thr)
|
rs2138145788
|
|
NM_000321.3(RB1):c.1684G>C (p.Ala562Pro)
|
rs2138145788
|
|
NM_000321.3(RB1):c.1684G>T (p.Ala562Ser)
|
|
|
NM_000321.3(RB1):c.1685C>T (p.Ala562Val)
|
rs1948535194
|
|
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+2dup
|
rs1566199647
|
|
NM_000321.3(RB1):c.1695+4A>G
|
rs1455944671
|
|
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>T
|
rs1949337308
|
|
NM_000321.3(RB1):c.1696-3T>C
|
|
|
NM_000321.3(RB1):c.1696-5T>G
|
rs1593529861
|
|
NM_000321.3(RB1):c.1696-7964C>T
|
|
|
NM_000321.3(RB1):c.1698T>G (p.Asp566Glu)
|
|
|
NM_000321.3(RB1):c.1699T>C (p.Ser567Pro)
|
rs2138326970
|
|
NM_000321.3(RB1):c.1702C>T (p.Pro568Ser)
|
|
|
NM_000321.3(RB1):c.1703C>T (p.Pro568Leu)
|
|
|
NM_000321.3(RB1):c.1707A>T (p.Leu569Phe)
|
rs3092895
|
|
NM_000321.3(RB1):c.1709T>C (p.Phe570Ser)
|
rs2138327013
|
|
NM_000321.3(RB1):c.1710T>A (p.Phe570Leu)
|
|
|
NM_000321.3(RB1):c.1712A>T (p.Asp571Val)
|
|
|
NM_000321.3(RB1):c.1718T>C (p.Ile573Thr)
|
|
|
NM_000321.3(RB1):c.1720A>G (p.Lys574Glu)
|
rs1593529910
|
|
NM_000321.3(RB1):c.1722A>C (p.Lys574Asn)
|
rs1171421079
|
|
NM_000321.3(RB1):c.172A>G (p.Thr58Ala)
|
rs1593414365
|
|
NM_000321.3(RB1):c.1731G>C (p.Lys577Asn)
|
rs1949337837
|
|
NM_000321.3(RB1):c.1731G>T (p.Lys577Asn)
|
rs1949337837
|
|
NM_000321.3(RB1):c.1733A>G (p.Asp578Gly)
|
|
|
NM_000321.3(RB1):c.1739A>G (p.Glu580Gly)
|
|
|
NM_000321.3(RB1):c.173C>G (p.Thr58Ser)
|
|
|
NM_000321.3(RB1):c.1742G>T (p.Gly581Val)
|
|
|
NM_000321.3(RB1):c.1745C>A (p.Pro582Gln)
|
|
|
NM_000321.3(RB1):c.1751A>T (p.Asp584Val)
|
|
|
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.1756C>T (p.Leu586Phe)
|
rs2138327178
|
|
NM_000321.3(RB1):c.1757T>C (p.Leu586Pro)
|
|
|
NM_000321.3(RB1):c.175G>A (p.Ala59Thr)
|
|
|
NM_000321.3(RB1):c.175_177delinsCCT (p.Ala59Pro)
|
rs1593414375
|
|
NM_000321.3(RB1):c.1763C>T (p.Ser588Phe)
|
rs1555293637
|
|
NM_000321.3(RB1):c.1765G>A (p.Ala589Thr)
|
rs1949338354
|
|
NM_000321.3(RB1):c.1766C>G (p.Ala589Gly)
|
rs779045727
|
|
NM_000321.3(RB1):c.1768T>G (p.Cys590Gly)
|
rs1060503089
|
|
NM_000321.3(RB1):c.1769G>T (p.Cys590Phe)
|
rs1949338458
|
|
NM_000321.3(RB1):c.1772C>T (p.Pro591Leu)
|
rs1221157259
|
|
NM_000321.3(RB1):c.1775T>C (p.Leu592Pro)
|
|
|
NM_000321.3(RB1):c.1779T>A (p.Asn593Lys)
|
rs2138327277
|
|
NM_000321.3(RB1):c.1783C>T (p.Pro595Ser)
|
rs1949338684
|
|
NM_000321.3(RB1):c.1784C>T (p.Pro595Leu)
|
|
|
NM_000321.3(RB1):c.1786C>G (p.Leu596Val)
|
|
|
NM_000321.3(RB1):c.1789C>A (p.Gln597Lys)
|
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.17C>A (p.Pro6His)
|
rs755482658
|
|
NM_000321.3(RB1):c.17C>T (p.Pro6Leu)
|
|
|
NM_000321.3(RB1):c.1802C>G (p.Thr601Ser)
|
rs910909092
|
|
NM_000321.3(RB1):c.1802C>T (p.Thr601Ile)
|
|
|
NM_000321.3(RB1):c.1805C>A (p.Ala602Glu)
|
|
|
NM_000321.3(RB1):c.1807G>A (p.Ala603Thr)
|
rs777791058
|
|
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.1813A>G (p.Met605Val)
|
|
|
NM_000321.3(RB1):c.1814+12A>G
|
|
|
NM_000321.3(RB1):c.1814+4A>G
|
rs1131690898
|
|
NM_000321.3(RB1):c.1814T>C (p.Met605Thr)
|
rs1555293654
|
|
NM_000321.3(RB1):c.1815-1G>C
|
rs1593531874
|
|
NM_000321.3(RB1):c.1815-3T>G
|
rs2138330949
|
|
NM_000321.3(RB1):c.1815-4C>T
|
rs1593531868
|
|
NM_000321.3(RB1):c.1817A>G (p.Tyr606Cys)
|
|
|
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.1827T>C (p.Pro609=)
|
rs1593531889
|
|
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.1832G>A (p.Arg611Lys)
|
|
|
NM_000321.3(RB1):c.1837C>G (p.Pro613Ala)
|
|
|
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.1847A>G (p.Lys616Arg)
|
|
|
NM_000321.3(RB1):c.1849G>C (p.Gly617Arg)
|
|
|
NM_000321.3(RB1):c.184C>A (p.Gln62Lys)
|
|
|
NM_000321.3(RB1):c.1850G>C (p.Gly617Ala)
|
|
|
NM_000321.3(RB1):c.1850G>T (p.Gly617Val)
|
|
|
NM_000321.3(RB1):c.1855A>G (p.Thr619Ala)
|
|
|
NM_000321.3(RB1):c.1858A>G (p.Thr620Ala)
|
|
|
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>T (p.Arg621Cys)
|
rs367578442
|
|
NM_000321.3(RB1):c.1862G>C (p.Arg621Pro)
|
|
|
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.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.1887G>T (p.Glu629Asp)
|
|
|
NM_000321.3(RB1):c.1889C>T (p.Thr630Ile)
|
rs1593532012
|
|
NM_000321.3(RB1):c.1892A>G (p.Gln631Arg)
|
rs1593532019
|
|
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.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.1906T>C (p.Phe636Leu)
|
|
|
NM_000321.3(RB1):c.1908C>G (p.Phe636Leu)
|
rs2138331404
|
|
NM_000321.3(RB1):c.1912A>G (p.Thr638Ala)
|
|
|
NM_000321.3(RB1):c.1916A>G (p.Gln639Arg)
|
rs775880919
|
|
NM_000321.3(RB1):c.1918A>C (p.Lys640Gln)
|
|
|
NM_000321.3(RB1):c.1919A>C (p.Lys640Thr)
|
rs1949359821
|
|
NM_000321.3(RB1):c.1924T>G (p.Leu642Val)
|
rs1949359922
|
|
NM_000321.3(RB1):c.1934C>T (p.Thr645Ile)
|
rs2138331549
|
|
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.1940T>C (p.Leu647Pro)
|
rs2138331582
|
|
NM_000321.3(RB1):c.1942T>A (p.Ser648Thr)
|
|
|
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.1957A>G (p.Lys653Glu)
|
|
|
NM_000321.3(RB1):c.1960+3T>C
|
rs1949360348
|
|
NM_000321.3(RB1):c.1960+6T>C
|
|
|
NM_000321.3(RB1):c.1960+6T>G
|
rs1949360394
|
|
NM_000321.3(RB1):c.1960G>A (p.Val654Met)
|
rs483352690
|
|
NM_000321.3(RB1):c.1961-4A>G
|
|
|
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.1963T>C (p.Tyr655His)
|
|
|
NM_000321.3(RB1):c.1963T>G (p.Tyr655Asp)
|
|
|
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.196A>G (p.Ile66Val)
|
rs1952089702
|
|
NM_000321.3(RB1):c.1973C>A (p.Ala658Asp)
|
rs587778834
|
|
NM_000321.3(RB1):c.1973C>T (p.Ala658Val)
|
|
|
NM_000321.3(RB1):c.1982G>C (p.Arg661Pro)
|
|
|
NM_000321.3(RB1):c.1985T>A (p.Leu662Gln)
|
|
|
NM_000321.3(RB1):c.1991C>T (p.Thr664Ile)
|
rs749739772
|
|
NM_000321.3(RB1):c.1993C>T (p.Leu665Phe)
|
|
|
NM_000321.3(RB1):c.1994T>G (p.Leu665Arg)
|
rs483352689
|
|
NM_000321.3(RB1):c.1996T>C (p.Cys666Arg)
|
rs1949383921
|
|
NM_000321.3(RB1):c.199C>A (p.Pro67Thr)
|
|
|
NM_000321.3(RB1):c.199C>T (p.Pro67Ser)
|
rs1952089775
|
|
NM_000321.3(RB1):c.1A>T (p.Met1Leu)
|
rs2138026940
|
|
NM_000321.3(RB1):c.2002C>A (p.Arg668Ser)
|
rs369755801
|
|
NM_000321.3(RB1):c.2006T>C (p.Leu669Pro)
|
rs1949384058
|
|
NM_000321.3(RB1):c.2017C>T (p.His673Tyr)
|
|
|
NM_000321.3(RB1):c.2019C>G (p.His673Gln)
|
rs1949384169
|
|
NM_000321.3(RB1):c.2020C>T (p.Pro674Ser)
|
rs1949384188
|
|
NM_000321.3(RB1):c.2021C>G (p.Pro674Arg)
|
|
|
NM_000321.3(RB1):c.2027T>C (p.Leu676Ser)
|
rs1566235448
|
|
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.2035A>C (p.Ile679Leu)
|
|
|
NM_000321.3(RB1):c.2035A>G (p.Ile679Val)
|
rs897199998
|
|
NM_000321.3(RB1):c.203A>C (p.Asp68Ala)
|
|
|
NM_000321.3(RB1):c.203A>G (p.Asp68Gly)
|
rs1952089852
|
|
NM_000321.3(RB1):c.2051T>C (p.Phe684Ser)
|
|
|
NM_000321.3(RB1):c.2056C>A (p.His686Asn)
|
|
|
NM_000321.3(RB1):c.2058C>A (p.His686Gln)
|
rs748484148
|
|
NM_000321.3(RB1):c.2059A>G (p.Thr687Ala)
|
|
|
NM_000321.3(RB1):c.205C>G (p.His69Asp)
|
|
|
NM_000321.3(RB1):c.2060C>G (p.Thr687Ser)
|
|
|
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.2083A>T (p.Met695Leu)
|
|
|
NM_000321.3(RB1):c.208G>A (p.Val70Ile)
|
rs2138034226
|
|
NM_000321.3(RB1):c.2093G>C (p.Arg698Thr)
|
|
|
NM_000321.3(RB1):c.2094G>C (p.Arg698Ser)
|
rs1131690891
|
|
NM_000321.3(RB1):c.2097T>A (p.His699Gln)
|
rs1593534809
|
|
NM_000321.3(RB1):c.2102A>C (p.Asp701Ala)
|
|
|
NM_000321.3(RB1):c.2106+2T>C
|
rs1566235515
|
|
NM_000321.3(RB1):c.2106+3A>G
|
rs1353683992
|
|
NM_000321.3(RB1):c.2107-13A>G
|
rs773509289
|
|
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.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.2134T>A (p.Cys712Ser)
|
rs137853296
|
|
NM_000321.3(RB1):c.2134T>G (p.Cys712Gly)
|
rs137853296
|
|
NM_000321.3(RB1):c.2138A>G (p.Lys713Arg)
|
rs1593538161
|
|
NM_000321.3(RB1):c.214G>A (p.Glu72Lys)
|
|
|
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.2154C>A (p.Asp718Glu)
|
rs1949419727
|
|
NM_000321.3(RB1):c.2155C>G (p.Leu719Val)
|
|
|
NM_000321.3(RB1):c.2165A>G (p.Lys722Arg)
|
|
|
NM_000321.3(RB1):c.2173G>T (p.Val725Leu)
|
|
|
NM_000321.3(RB1):c.2179G>T (p.Ala727Ser)
|
|
|
NM_000321.3(RB1):c.217A>G (p.Arg73Gly)
|
|
|
NM_000321.3(RB1):c.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.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.2198A>G (p.His733Arg)
|
rs778503152
|
|
NM_000321.3(RB1):c.219A>C (p.Arg73Ser)
|
rs1131690854
|
|
NM_000321.3(RB1):c.2207A>C (p.Gln736Pro)
|
rs1372842030
|
|
NM_000321.3(RB1):c.2208G>C (p.Gln736His)
|
rs2138342726
|
|
NM_000321.3(RB1):c.2209G>A (p.Glu737Lys)
|
|
|
NM_000321.3(RB1):c.220G>A (p.Ala74Thr)
|
rs1952090208
|
|
NM_000321.3(RB1):c.2211+3A>G
|
rs2138342752
|
|
NM_000321.3(RB1):c.2211+4G>A
|
|
|
NM_000321.3(RB1):c.2211+4G>C
|
rs1060503076
|
|
NM_000321.3(RB1):c.2211+4G>T
|
rs1060503076
|
|
NM_000321.3(RB1):c.2211+6T>G
|
|
|
NM_000321.3(RB1):c.2212-3C>G
|
|
|
NM_000321.3(RB1):c.2218A>G (p.Lys740Glu)
|
|
|
NM_000321.3(RB1):c.221C>G (p.Ala74Gly)
|
rs764472420
|
|
NM_000321.3(RB1):c.221C>T (p.Ala74Val)
|
|
|
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.2229G>T (p.Leu743Phe)
|
|
|
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.2236G>C (p.Glu746Gln)
|
rs958914211
|
|
NM_000321.3(RB1):c.2237A>G (p.Glu746Gly)
|
|
|
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>C (p.Glu747Asp)
|
|
|
NM_000321.3(RB1):c.2244G>C (p.Glu748Asp)
|
rs1131690911
|
|
NM_000321.3(RB1):c.2245T>C (p.Tyr749His)
|
|
|
NM_000321.3(RB1):c.2246A>G (p.Tyr749Cys)
|
|
|
NM_000321.3(RB1):c.224G>T (p.Trp75Leu)
|
|
|
NM_000321.3(RB1):c.2254A>C (p.Ile752Leu)
|
rs1555294601
|
|
NM_000321.3(RB1):c.2254A>G (p.Ile752Val)
|
rs1555294601
|
|
NM_000321.3(RB1):c.2255T>C (p.Ile752Thr)
|
|
|
NM_000321.3(RB1):c.2257A>T (p.Ile753Leu)
|
|
|
NM_000321.3(RB1):c.2260G>C (p.Val754Leu)
|
rs587778642
|
|
NM_000321.3(RB1):c.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.2281A>T (p.Met761Leu)
|
|
|
NM_000321.3(RB1):c.2282T>C (p.Met761Thr)
|
|
|
NM_000321.3(RB1):c.2284C>A (p.Gln762Lys)
|
rs1593539225
|
|
NM_000321.3(RB1):c.2285A>T (p.Gln762Leu)
|
rs1593539228
|
|
NM_000321.3(RB1):c.2288G>A (p.Arg763Lys)
|
rs2138344904
|
|
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.2299A>G (p.Asn767Asp)
|
|
|
NM_000321.3(RB1):c.22A>G (p.Lys8Glu)
|
|
|
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.2320A>G (p.Thr774Ala)
|
rs2138345047
|
|
NM_000321.3(RB1):c.2320A>T (p.Thr774Ser)
|
|
|
NM_000321.3(RB1):c.2321C>T (p.Thr774Ile)
|
|
|
NM_000321.3(RB1):c.2324G>A (p.Arg775Lys)
|
rs1593539271
|
|
NM_000321.3(RB1):c.2325+3A>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>A
|
rs886042249
|
|
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.2326C>G (p.Pro776Ala)
|
|
|
NM_000321.3(RB1):c.2326C>T (p.Pro776Ser)
|
|
|
NM_000321.3(RB1):c.2327C>A (p.Pro776His)
|
rs912203557
|
|
NM_000321.3(RB1):c.2333C>T (p.Thr778Ile)
|
rs1593539364
|
|
NM_000321.3(RB1):c.2336T>C (p.Leu779Ser)
|
|
|
NM_000321.3(RB1):c.233G>C (p.Trp78Ser)
|
rs1593414417
|
|
NM_000321.3(RB1):c.2342C>T (p.Pro781Leu)
|
|
|
NM_000321.3(RB1):c.2345T>C (p.Ile782Thr)
|
rs1949432262
|
|
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.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.2369A>G (p.Tyr790Cys)
|
|
|
NM_000321.3(RB1):c.2372A>G (p.Lys791Arg)
|
rs777670056
|
|
NM_000321.3(RB1):c.2373G>T (p.Lys791Asn)
|
|
|
NM_000321.3(RB1):c.2375T>C (p.Phe792Ser)
|
rs2138345676
|
|
NM_000321.3(RB1):c.2377C>T (p.Pro793Ser)
|
rs947540268
|
|
NM_000321.3(RB1):c.2381G>A (p.Ser794Asn)
|
|
|
NM_000321.3(RB1):c.2386C>A (p.Pro796Thr)
|
|
|
NM_000321.3(RB1):c.2386C>T (p.Pro796Ser)
|
|
|
NM_000321.3(RB1):c.2389T>A (p.Leu797Ile)
|
|
|
NM_000321.3(RB1):c.2396T>A (p.Ile799Asn)
|
|
|
NM_000321.3(RB1):c.2396_2398delinsATA (p.Ile799_Pro800delinsAsnThr)
|
|
|
NM_000321.3(RB1):c.2398C>A (p.Pro800Thr)
|
|
|
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.2403del (p.Asn803fs)
|
|
|
NM_000321.3(RB1):c.2404G>A (p.Gly802Arg)
|
|
|
NM_000321.3(RB1):c.2405G>A (p.Gly802Glu)
|
|
|
NM_000321.3(RB1):c.240A>T (p.Lys80Asn)
|
|
|
NM_000321.3(RB1):c.2414A>G (p.Tyr805Cys)
|
|
|
NM_000321.3(RB1):c.2417T>G (p.Ile806Ser)
|
|
|
NM_000321.3(RB1):c.2420C>T (p.Ser807Leu)
|
|
|
NM_000321.3(RB1):c.2422C>T (p.Pro808Ser)
|
|
|
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.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.2445T>G (p.Ile815Met)
|
|
|
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.2452G>C (p.Gly818Arg)
|
|
|
NM_000321.3(RB1):c.2453G>A (p.Gly818Asp)
|
rs1949433617
|
|
NM_000321.3(RB1):c.2453G>T (p.Gly818Val)
|
|
|
NM_000321.3(RB1):c.245C>T (p.Ser82Leu)
|
|
|
NM_000321.3(RB1):c.2470A>G (p.Lys824Glu)
|
|
|
NM_000321.3(RB1):c.2473A>G (p.Met825Val)
|
rs2138346201
|
|
NM_000321.3(RB1):c.2475G>A (p.Met825Ile)
|
rs1949433927
|
|
NM_000321.3(RB1):c.2475G>T (p.Met825Ile)
|
|
|
NM_000321.3(RB1):c.2477C>A (p.Thr826Asn)
|
|
|
NM_000321.3(RB1):c.2479C>G (p.Pro827Ala)
|
rs1949433950
|
|
NM_000321.3(RB1):c.2479C>T (p.Pro827Ser)
|
|
|
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+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.2490-10_2490-6del
|
rs1224162129
|
|
NM_000321.3(RB1):c.2490-1403A>T
|
|
|
NM_000321.3(RB1):c.2490-30A>C
|
|
|
NM_000321.3(RB1):c.2490-5G>A
|
rs1593544633
|
|
NM_000321.3(RB1):c.2491A>C (p.Ile831Leu)
|
rs761068783
|
|
NM_000321.3(RB1):c.2493C>G (p.Ile831Met)
|
|
|
NM_000321.3(RB1):c.2497G>A (p.Val833Ile)
|
rs2138354621
|
|
NM_000321.3(RB1):c.2497G>C (p.Val833Leu)
|
|
|
NM_000321.3(RB1):c.24A>C (p.Lys8Asn)
|
|
|
NM_000321.3(RB1):c.2501C>T (p.Ser834Leu)
|
rs1131690906
|
|
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.2518G>C (p.Gly840Arg)
|
rs374157786
|
|
NM_000321.3(RB1):c.2518G>T (p.Gly840Trp)
|
rs374157786
|
|
NM_000321.3(RB1):c.2519G>A (p.Gly840Glu)
|
rs1131690900
|
|
NM_000321.3(RB1):c.2520+3G>A
|
rs868434367
|
|
NM_000321.3(RB1):c.2520G>T (p.Gly840=)
|
rs1949484533
|
|
NM_000321.3(RB1):c.2521-10T>A
|
|
|
NM_000321.3(RB1):c.2522C>G (p.Thr841Ser)
|
|
|
NM_000321.3(RB1):c.2522C>T (p.Thr841Ile)
|
rs1358216534
|
|
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.2539A>G (p.Lys847Glu)
|
rs2138358973
|
|
NM_000321.3(RB1):c.2540A>G (p.Lys847Arg)
|
|
|
NM_000321.3(RB1):c.254A>G (p.Asp85Gly)
|
rs1952090656
|
|
NM_000321.3(RB1):c.2551A>G (p.Met851Val)
|
|
|
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.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.2569C>T (p.Arg857Cys)
|
|
|
NM_000321.3(RB1):c.2570G>T (p.Arg857Leu)
|
rs144668210
|
|
NM_000321.3(RB1):c.2572G>C (p.Val858Leu)
|
|
|
NM_000321.3(RB1):c.2575C>T (p.Leu859Phe)
|
|
|
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.2588C>A (p.Ala863Asp)
|
|
|
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.2593_2594delinsCA (p.Gly865Gln)
|
rs2138359294
|
|
NM_000321.3(RB1):c.2594G>C (p.Gly865Ala)
|
|
|
NM_000321.3(RB1):c.2597G>A (p.Ser866Asn)
|
rs1593547165
|
|
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.2605C>T (p.Pro869Ser)
|
|
|
NM_000321.3(RB1):c.2609A>G (p.Lys870Arg)
|
|
|
NM_000321.3(RB1):c.2611C>A (p.Pro871Thr)
|
|
|
NM_000321.3(RB1):c.2612C>T (p.Pro871Leu)
|
rs1949506762
|
|
NM_000321.3(RB1):c.2615T>C (p.Leu872Pro)
|
rs1470516350
|
|
NM_000321.3(RB1):c.2627G>A (p.Arg876His)
|
rs767232453
|
|
NM_000321.3(RB1):c.2632G>A (p.Asp878Asn)
|
|
|
NM_000321.3(RB1):c.263T>G (p.Leu88Trp)
|
rs1555279518
|
|
NM_000321.3(RB1):c.264+5G>C
|
rs1131690853
|
|
NM_000321.3(RB1):c.2641G>C (p.Gly881Arg)
|
|
|
NM_000321.3(RB1):c.2642G>A (p.Gly881Glu)
|
|
|
NM_000321.3(RB1):c.2642G>C (p.Gly881Ala)
|
rs1949507139
|
|
NM_000321.3(RB1):c.2644T>G (p.Ser882Ala)
|
|
|
NM_000321.3(RB1):c.2648A>G (p.Asp883Gly)
|
|
|
NM_000321.3(RB1):c.264G>C (p.Leu88Phe)
|
rs1952090786
|
|
NM_000321.3(RB1):c.265-8del
|
rs1952455310
|
|
NM_000321.3(RB1):c.2654C>A (p.Ala885Glu)
|
rs758494086
|
|
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.2663+4G>A
|
rs1949507415
|
|
NM_000321.3(RB1):c.2663+6A>G
|
rs2138359698
|
|
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.2687A>G (p.Lys896Arg)
|
rs2138360885
|
|
NM_000321.3(RB1):c.2692C>T (p.Gln898Ter)
|
rs1566241180
|
|
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.2712G>A (p.Met904Ile)
|
|
|
NM_000321.3(RB1):c.2712G>T (p.Met904Ile)
|
rs1461167778
|
|
NM_000321.3(RB1):c.2714-16_2714-14del
|
|
|
NM_000321.3(RB1):c.2714-4C>T
|
rs768351559
|
|
NM_000321.3(RB1):c.2720C>A (p.Thr907Asn)
|
|
|
NM_000321.3(RB1):c.2720C>T (p.Thr907Ile)
|
|
|
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.2733G>T (p.Met911Ile)
|
rs2138364425
|
|
NM_000321.3(RB1):c.2735A>G (p.Gln912Arg)
|
rs1949528429
|
|
NM_000321.3(RB1):c.2737A>G (p.Lys913Glu)
|
|
|
NM_000321.3(RB1):c.2738A>G (p.Lys913Arg)
|
rs2138364453
|
|
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.2755A>G (p.Ser919Gly)
|
rs1555295597
|
|
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.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.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.2782A>T (p.Lys928Ter)
|
|
|
NM_000321.3(RB1):c.283A>C (p.Lys95Gln)
|
|
|
NM_000321.3(RB1):c.28G>A (p.Ala10Thr)
|
|
|
NM_000321.3(RB1):c.293T>C (p.Leu98Pro)
|
rs2138083652
|
|
NM_000321.3(RB1):c.297G>C (p.Trp99Cys)
|
|
|
NM_000321.3(RB1):c.299G>A (p.Gly100Glu)
|
|
|
NM_000321.3(RB1):c.299G>C (p.Gly100Ala)
|
rs886050268
|
|
NM_000321.3(RB1):c.301A>G (p.Ile101Val)
|
rs1555282783
|
|
NM_000321.3(RB1):c.304T>C (p.Cys102Arg)
|
|
|
NM_000321.3(RB1):c.308T>C (p.Ile103Thr)
|
rs1593434231
|
|
NM_000321.3(RB1):c.310T>C (p.Phe104Leu)
|
|
|
NM_000321.3(RB1):c.317C>T (p.Ala106Val)
|
|
|
NM_000321.3(RB1):c.319G>A (p.Ala107Thr)
|
|
|
NM_000321.3(RB1):c.31G>T (p.Ala11Ser)
|
rs587778852
|
|
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.331G>A (p.Asp111Asn)
|
rs1952456285
|
|
NM_000321.3(RB1):c.333T>C (p.Asp111=)
|
|
|
NM_000321.3(RB1):c.334G>A (p.Glu112Lys)
|
rs1199831823
|
|
NM_000321.3(RB1):c.337A>C (p.Met113Leu)
|
rs1593434246
|
|
NM_000321.3(RB1):c.337A>G (p.Met113Val)
|
|
|
NM_000321.3(RB1):c.339G>A (p.Met113Ile)
|
rs1593434250
|
|
NM_000321.3(RB1):c.343T>C (p.Phe115Leu)
|
rs1555282792
|
|
NM_000321.3(RB1):c.347C>T (p.Thr116Ile)
|
|
|
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_51del (p.Thr12_Ala17del)
|
|
|
NM_000321.3(RB1):c.352A>G (p.Thr118Ala)
|
|
|
NM_000321.3(RB1):c.357G>T (p.Glu119Asp)
|
rs1593434283
|
|
NM_000321.3(RB1):c.364A>C (p.Lys122Gln)
|
|
|
NM_000321.3(RB1):c.368A>G (p.Asn123Ser)
|
rs2138084066
|
|
NM_000321.3(RB1):c.371T>C (p.Ile124Thr)
|
|
|
NM_000321.3(RB1):c.372A>G (p.Ile124Met)
|
rs1593434342
|
|
NM_000321.3(RB1):c.373G>A (p.Glu125Lys)
|
|
|
NM_000321.3(RB1):c.379A>G (p.Ser127Gly)
|
rs775559506
|
|
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.381-1G>A
|
rs1566186836
|
|
NM_000321.3(RB1):c.381-4G>T
|
|
|
NM_000321.3(RB1):c.381T>C (p.Ser127=)
|
rs780321508
|
|
NM_000321.3(RB1):c.382G>A (p.Val128Ile)
|
|
|
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>G (p.His129Gln)
|
rs1593435676
|
|
NM_000321.3(RB1):c.389A>C (p.Lys130Thr)
|
rs1593435682
|
|
NM_000321.3(RB1):c.38C>G (p.Ala13Gly)
|
|
|
NM_000321.3(RB1):c.38C>T (p.Ala13Val)
|
|
|
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.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.400T>G (p.Leu134Val)
|
|
|
NM_000321.3(RB1):c.404T>C (p.Leu135Pro)
|
rs1593435713
|
|
NM_000321.3(RB1):c.406A>G (p.Lys136Glu)
|
|
|
NM_000321.3(RB1):c.408A>C (p.Lys136Asn)
|
|
|
NM_000321.3(RB1):c.40_41delinsCT (p.Ala14Leu)
|
|
|
NM_000321.3(RB1):c.419C>A (p.Thr140Asn)
|
rs2138087361
|
|
NM_000321.3(RB1):c.421A>G (p.Ser141Gly)
|
|
|
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.431T>C (p.Val144Ala)
|
rs2138087434
|
|
NM_000321.3(RB1):c.436A>C (p.Asn146His)
|
rs1266294051
|
|
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.449G>C (p.Arg150Thr)
|
|
|
NM_000321.3(RB1):c.44C>G (p.Ala15Gly)
|
rs564137727
|
|
NM_000321.3(RB1):c.451C>G (p.Leu151Val)
|
|
|
NM_000321.3(RB1):c.452T>A (p.Leu151Gln)
|
rs2138087581
|
|
NM_000321.3(RB1):c.459G>C (p.Lys153Asn)
|
rs773642334
|
|
NM_000321.3(RB1):c.45_50dup (p.Ala17_Ala18dup)
|
rs1173330253
|
|
NM_000321.3(RB1):c.45_53dup (p.Ala16_Ala18dup)
|
rs572454921
|
|
NM_000321.3(RB1):c.464A>G (p.Tyr155Cys)
|
|
|
NM_000321.3(RB1):c.466G>C (p.Asp156His)
|
rs1034616967
|
|
NM_000321.3(RB1):c.466G>T (p.Asp156Tyr)
|
rs1034616967
|
|
NM_000321.3(RB1):c.469G>A (p.Val157Ile)
|
rs2138087706
|
|
NM_000321.3(RB1):c.474G>C (p.Leu158Phe)
|
rs1319691084
|
|
NM_000321.3(RB1):c.474G>T (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.481C>T (p.Leu161Phe)
|
|
|
NM_000321.3(RB1):c.48CGC[1] (p.Ala18del)
|
rs1952052800
|
|
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.49G>T (p.Ala17Ser)
|
|
|
NM_000321.3(RB1):c.4C>A (p.Pro2Thr)
|
rs1328198608
|
|
NM_000321.3(RB1):c.500+6_500+10del
|
rs1328603105
|
|
NM_000321.3(RB1):c.500G>A (p.Arg167Lys)
|
|
|
NM_000321.3(RB1):c.500G>C (p.Arg167Thr)
|
|
|
NM_000321.3(RB1):c.501-2A>G
|
|
|
NM_000321.3(RB1):c.501G>T (p.Arg167Ser)
|
|
|
NM_000321.3(RB1):c.503C>T (p.Thr168Ile)
|
|
|
NM_000321.3(RB1):c.506G>C (p.Cys169Ser)
|
rs1251503080
|
|
NM_000321.3(RB1):c.508G>A (p.Glu170Lys)
|
|
|
NM_000321.3(RB1):c.509A>G (p.Glu170Gly)
|
|
|
NM_000321.3(RB1):c.50C>T (p.Ala17Val)
|
rs1593412070
|
|
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.520T>G (p.Leu174Val)
|
rs1426744051
|
|
NM_000321.3(RB1):c.523A>G (p.Thr175Ala)
|
|
|
NM_000321.3(RB1):c.529C>G (p.Pro177Ala)
|
|
|
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.531CAG[1] (p.Ser180del)
|
|
|
NM_000321.3(RB1):c.533G>A (p.Ser178Asn)
|
|
|
NM_000321.3(RB1):c.534C>G (p.Ser178Arg)
|
|
|
NM_000321.3(RB1):c.535A>G (p.Ser179Gly)
|
rs970490020
|
|
NM_000321.3(RB1):c.539+1G>T
|
|
|
NM_000321.3(RB1):c.539+3A>G
|
|
|
NM_000321.3(RB1):c.539+4A>G
|
|
|
NM_000321.3(RB1):c.540-4A>G
|
rs2138093406
|
|
NM_000321.3(RB1):c.541A>G (p.Ile181Val)
|
rs781708508
|
|
NM_000321.3(RB1):c.544T>G (p.Ser182Ala)
|
|
|
NM_000321.3(RB1):c.545C>A (p.Ser182Tyr)
|
|
|
NM_000321.3(RB1):c.545C>T (p.Ser182Phe)
|
|
|
NM_000321.3(RB1):c.548C>T (p.Thr183Ile)
|
rs1952522583
|
|
NM_000321.3(RB1):c.552A>C (p.Glu184Asp)
|
rs1220347917
|
|
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.557A>G (p.Asn186Ser)
|
|
|
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.567G>T (p.Leu189Phe)
|
|
|
NM_000321.3(RB1):c.56A>T (p.Glu19Val)
|
|
|
NM_000321.3(RB1):c.571C>A (p.Leu191Ile)
|
|
|
NM_000321.3(RB1):c.575A>G (p.Lys192Arg)
|
|
|
NM_000321.3(RB1):c.576A>C (p.Lys192Asn)
|
rs2138093601
|
|
NM_000321.3(RB1):c.577G>C (p.Val193Leu)
|
rs1952523027
|
|
NM_000321.3(RB1):c.578T>C (p.Val193Ala)
|
rs1060503093
|
|
NM_000321.3(RB1):c.583T>G (p.Trp195Gly)
|
|
|
NM_000321.3(RB1):c.586A>G (p.Ile196Val)
|
rs1952523113
|
|
NM_000321.3(RB1):c.589A>G (p.Thr197Ala)
|
rs1421476380
|
|
NM_000321.3(RB1):c.58C>T (p.Pro20Ser)
|
|
|
NM_000321.3(RB1):c.590C>A (p.Thr197Lys)
|
rs1131690883
|
|
NM_000321.3(RB1):c.600A>C (p.Leu200Phe)
|
|
|
NM_000321.3(RB1):c.607+5G>A
|
rs2138093817
|
|
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.608-2del
|
rs1952624973
|
|
NM_000321.3(RB1):c.608-3C>G
|
rs1952624919
|
|
NM_000321.3(RB1):c.608G>A (p.Gly203Glu)
|
rs2138107541
|
|
NM_000321.3(RB1):c.610G>A (p.Glu204Lys)
|
rs1340261233
|
|
NM_000321.3(RB1):c.611A>G (p.Glu204Gly)
|
|
|
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.619C>A (p.Gln207Lys)
|
rs2138107604
|
|
NM_000321.3(RB1):c.621A>C (p.Gln207His)
|
rs1952625195
|
|
NM_000321.3(RB1):c.624G>A (p.Met208Ile)
|
|
|
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.637G>T (p.Val213Leu)
|
|
|
NM_000321.3(RB1):c.640A>G (p.Ile214Val)
|
rs1952625382
|
|
NM_000321.3(RB1):c.644C>T (p.Ser215Leu)
|
rs768305224
|
|
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.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.683A>G (p.Lys228Arg)
|
|
|
NM_000321.3(RB1):c.688T>G (p.Ser230Ala)
|
rs1952625902
|
|
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>G (p.Pro23Arg)
|
|
|
NM_000321.3(RB1):c.68C>T (p.Pro23Leu)
|
rs1952053594
|
|
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.698T>C (p.Met233Thr)
|
|
|
NM_000321.3(RB1):c.699G>A (p.Met233Ile)
|
rs1952626050
|
|
NM_000321.3(RB1):c.69GCC[5] (p.Pro29dup)
|
rs587778823
|
|
NM_000321.3(RB1):c.69GCC[6] (p.Pro28_Pro29dup)
|
rs587778823
|
|
NM_000321.3(RB1):c.700T>G (p.Leu234Val)
|
rs1362138725
|
|
NM_000321.3(RB1):c.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.712C>G (p.Pro238Ala)
|
|
|
NM_000321.3(RB1):c.712C>T (p.Pro238Ser)
|
|
|
NM_000321.3(RB1):c.715T>C (p.Tyr239His)
|
|
|
NM_000321.3(RB1):c.718+3A>G
|
|
|
NM_000321.3(RB1):c.718+5G>T
|
rs1131690848
|
|
NM_000321.3(RB1):c.718A>G (p.Lys240Glu)
|
rs2138108056
|
|
NM_000321.3(RB1):c.719-17A>G
|
|
|
NM_000321.3(RB1):c.719-2A>C
|
rs1952654925
|
|
NM_000321.3(RB1):c.719-3C>T
|
rs2138112047
|
|
NM_000321.3(RB1):c.719-4A>G
|
|
|
NM_000321.3(RB1):c.71C>A (p.Pro24Gln)
|
|
|
NM_000321.3(RB1):c.722C>T (p.Thr241Ile)
|
rs1593445085
|
|
NM_000321.3(RB1):c.722del (p.Thr241fs)
|
|
|
NM_000321.3(RB1):c.724G>A (p.Ala242Thr)
|
|
|
NM_000321.3(RB1):c.725C>G (p.Ala242Gly)
|
|
|
NM_000321.3(RB1):c.727G>C (p.Val243Leu)
|
rs1952655034
|
|
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.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.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.754A>T (p.Thr252Ser)
|
rs1952655426
|
|
NM_000321.3(RB1):c.757C>A (p.Pro253Thr)
|
rs1952655473
|
|
NM_000321.3(RB1):c.757C>G (p.Pro253Ala)
|
|
|
NM_000321.3(RB1):c.760A>G (p.Arg254Gly)
|
rs2138112300
|
|
NM_000321.3(RB1):c.762G>T (p.Arg254Ser)
|
|
|
NM_000321.3(RB1):c.764G>A (p.Arg255Gln)
|
rs746954896
|
|
NM_000321.3(RB1):c.766G>A (p.Gly256Ser)
|
|
|
NM_000321.3(RB1):c.76C>T (p.Pro26Ser)
|
|
|
NM_000321.3(RB1):c.770A>G (p.Gln257Arg)
|
rs1232080974
|
|
NM_000321.3(RB1):c.772A>G (p.Asn258Asp)
|
|
|
NM_000321.3(RB1):c.773A>G (p.Asn258Ser)
|
|
|
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.787A>G (p.Ile263Val)
|
|
|
NM_000321.3(RB1):c.788T>G (p.Ile263Arg)
|
|
|
NM_000321.3(RB1):c.78_83dup (p.Pro28_Pro29dup)
|
rs1555279223
|
|
NM_000321.3(RB1):c.791C>G (p.Ala264Gly)
|
|
|
NM_000321.3(RB1):c.791C>T (p.Ala264Val)
|
|
|
NM_000321.3(RB1):c.794AAC[3] (p.Gln266dup)
|
rs2138112498
|
|
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.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.811A>G (p.Thr271Ala)
|
rs1461707277
|
|
NM_000321.3(RB1):c.812C>T (p.Thr271Ile)
|
rs1191072088
|
|
NM_000321.3(RB1):c.814A>G (p.Arg272Gly)
|
rs1555284945
|
|
NM_000321.3(RB1):c.815G>A (p.Arg272Lys)
|
rs2138112612
|
|
NM_000321.3(RB1):c.817A>G (p.Ile273Val)
|
|
|
NM_000321.3(RB1):c.820A>G (p.Ile274Val)
|
|
|
NM_000321.3(RB1):c.826G>T (p.Val276Phe)
|
rs2138112665
|
|
NM_000321.3(RB1):c.82C>A (p.Pro28Thr)
|
|
|
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.840A>T (p.Glu280Asp)
|
|
|
NM_000321.3(RB1):c.841C>T (p.His281Tyr)
|
rs933023013
|
|
NM_000321.3(RB1):c.842A>G (p.His281Arg)
|
|
|
NM_000321.3(RB1):c.847T>C (p.Cys283Arg)
|
|
|
NM_000321.3(RB1):c.848G>A (p.Cys283Tyr)
|
rs1273219762
|
|
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.860A>G (p.Glu287Gly)
|
rs1952657220
|
|
NM_000321.3(RB1):c.862G>A (p.Val288Met)
|
rs1555285117
|
|
NM_000321.3(RB1):c.867A>C (p.Lys289Asn)
|
rs1555285126
|
|
NM_000321.3(RB1):c.868_869dup (p.Asn290fs)
|
|
|
NM_000321.3(RB1):c.871G>A (p.Val291Ile)
|
|
|
NM_000321.3(RB1):c.879C>A (p.Phe293Leu)
|
rs775381228
|
|
NM_000321.3(RB1):c.881A>C (p.Lys294Thr)
|
rs1453047397
|
|
NM_000321.3(RB1):c.884A>G (p.Asn295Ser)
|
rs2138116381
|
|
NM_000321.3(RB1):c.889A>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.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.893C>T (p.Pro298Leu)
|
|
|
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.907C>G (p.Leu303Val)
|
|
|
NM_000321.3(RB1):c.907C>T (p.Leu303Phe)
|
|
|
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.913C>G (p.Leu305Val)
|
|
|
NM_000321.3(RB1):c.913C>T (p.Leu305Phe)
|
rs1292944238
|
|
NM_000321.3(RB1):c.914T>C (p.Leu305Pro)
|
|
|
NM_000321.3(RB1):c.916G>A (p.Val306Ile)
|
|
|
NM_000321.3(RB1):c.920C>G (p.Thr307Arg)
|
|
|
NM_000321.3(RB1):c.922T>C (p.Ser308Pro)
|
|
|
NM_000321.3(RB1):c.923C>T (p.Ser308Phe)
|
|
|
NM_000321.3(RB1):c.925A>G (p.Asn309Asp)
|
|
|
NM_000321.3(RB1):c.926A>G (p.Asn309Ser)
|
rs1952680701
|
|
NM_000321.3(RB1):c.931C>T (p.Leu311Phe)
|
|
|
NM_000321.3(RB1):c.938A>G (p.Glu313Gly)
|
|
|
NM_000321.3(RB1):c.939+3A>T
|
rs1555285148
|
|
NM_000321.3(RB1):c.939+5T>G
|
rs1952680873
|
|
NM_000321.3(RB1):c.940-5T>C
|
rs1289148853
|
|
NM_000321.3(RB1):c.940G>A (p.Val314Ile)
|
|
|
NM_000321.3(RB1):c.940G>T (p.Val314Phe)
|
rs1566194312
|
|
NM_000321.3(RB1):c.941T>C (p.Val314Ala)
|
|
|
NM_000321.3(RB1):c.947A>G (p.Asn316Ser)
|
rs2138120959
|
|
NM_000321.3(RB1):c.949C>T (p.Leu317Phe)
|
|
|
NM_000321.3(RB1):c.94G>A (p.Asp32Asn)
|
rs1593412219
|
|
NM_000321.3(RB1):c.94G>C (p.Asp32His)
|
rs1593412219
|
|
NM_000321.3(RB1):c.952T>C (p.Ser318Pro)
|
|
|
NM_000321.3(RB1):c.953C>G (p.Ser318Cys)
|
rs886050271
|
|
NM_000321.3(RB1):c.959G>T (p.Arg320Leu)
|
rs760787104
|
|
NM_000321.3(RB1):c.961T>C (p.Tyr321His)
|
rs2138121056
|
|
NM_000321.3(RB1):c.962A>G (p.Tyr321Cys)
|
rs1566194338
|
|
NM_000321.3(RB1):c.964G>A (p.Glu322Lys)
|
rs776534331
|
|
NM_000321.3(RB1):c.969A>C (p.Glu323Asp)
|
|
|
NM_000321.3(RB1):c.96C>A (p.Asp32Glu)
|
|
|
NM_000321.3(RB1):c.970A>G (p.Ile324Val)
|
|
|
NM_000321.3(RB1):c.971T>C (p.Ile324Thr)
|
|
|
NM_000321.3(RB1):c.974A>C (p.Tyr325Ser)
|
|
|
NM_000321.3(RB1):c.976C>T (p.Leu326Phe)
|
rs1566194351
|
|
NM_000321.3(RB1):c.977T>C (p.Leu326Pro)
|
|
|
NM_000321.3(RB1):c.979A>G (p.Lys327Glu)
|
|
|
NM_000321.3(RB1):c.97C>T (p.Pro33Ser)
|
|
|
NM_000321.3(RB1):c.981A>C (p.Lys327Asn)
|
|
|
NM_000321.3(RB1):c.982A>C (p.Asn328His)
|
|
|
NM_000321.3(RB1):c.982_987del (p.Asn328_Lys329del)
|
rs878853952
|
|
NM_000321.3(RB1):c.984T>A (p.Asn328Lys)
|
rs1952716275
|
|
NM_000321.3(RB1):c.985A>C (p.Lys329Gln)
|
rs2138121199
|
|
NM_000321.3(RB1):c.988G>C (p.Asp330His)
|
|
|
NM_000321.3(RB1):c.989A>T (p.Asp330Val)
|
|
|
NM_000321.3(RB1):c.98C>T (p.Pro33Leu)
|
rs1201977804
|
|
NM_000321.3(RB1):c.990T>A (p.Asp330Glu)
|
rs2138121244
|
|
NM_000321.3(RB1):c.990T>G (p.Asp330Glu)
|
|
|
NM_000321.3(RB1):c.994G>A (p.Asp332Asn)
|
|
|
NM_000321.3(RB1):c.998C>A (p.Ala333Glu)
|
|
|
NM_000321.3(RB1):c.9_10delinsGG (p.Lys4Glu)
|
|
|