NM_000321.3(RB1):c.1390-11A>G
|
rs200658795
|
0.00365
|
NM_000321.3(RB1):c.-69G>C
|
rs753117180
|
0.00014
|
NM_000321.3(RB1):c.1862G>A (p.Arg621His)
|
rs373601944
|
0.00009
|
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.109A>G (p.Ser37Gly)
|
rs896487590
|
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.80C>G (p.Pro27Arg)
|
rs925399787
|
0.00003
|
NM_000321.3(RB1):c.-1C>T
|
rs754354560
|
0.00002
|
NM_000321.3(RB1):c.2222G>A (p.Arg741His)
|
rs764520289
|
0.00002
|
NM_000321.3(RB1):c.2489+3G>T
|
rs1057505320
|
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.-149G>T
|
rs1014776340
|
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.1073G>A (p.Arg358Gln)
|
rs767011440
|
0.00001
|
NM_000321.3(RB1):c.1095G>C (p.Glu365Asp)
|
rs750094760
|
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.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.1223C>T (p.Thr408Ile)
|
rs1462238834
|
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.1364G>A (p.Arg455Gln)
|
rs769425649
|
0.00001
|
NM_000321.3(RB1):c.1378A>G (p.Met460Val)
|
rs1258210045
|
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.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.1741G>A (p.Gly581Arg)
|
rs375645171
|
0.00001
|
NM_000321.3(RB1):c.1750G>T (p.Asp584Tyr)
|
rs1343212063
|
0.00001
|
NM_000321.3(RB1):c.1778A>G (p.Asn593Ser)
|
rs138033832
|
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.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.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.2186A>C (p.Lys729Thr)
|
rs150600740
|
0.00001
|
NM_000321.3(RB1):c.2198A>T (p.His733Leu)
|
rs778503152
|
0.00001
|
NM_000321.3(RB1):c.2289A>T (p.Arg763Ser)
|
rs1167280920
|
0.00001
|
NM_000321.3(RB1):c.2290C>G (p.Leu764Val)
|
rs138637932
|
0.00001
|
NM_000321.3(RB1):c.2332A>G (p.Thr778Ala)
|
rs878853950
|
0.00001
|
NM_000321.3(RB1):c.2381G>C (p.Ser794Thr)
|
rs1240896329
|
0.00001
|
NM_000321.3(RB1):c.238A>G (p.Lys80Glu)
|
rs751870680
|
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.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.269G>T (p.Gly90Val)
|
rs554727080
|
0.00001
|
NM_000321.3(RB1):c.2714-12T>A
|
rs759312873
|
0.00001
|
NM_000321.3(RB1):c.34A>T (p.Thr12Ser)
|
rs1566174063
|
0.00001
|
NM_000321.3(RB1):c.352A>T (p.Thr118Ser)
|
rs1429553692
|
0.00001
|
NM_000321.3(RB1):c.356A>C (p.Glu119Ala)
|
rs1347755761
|
0.00001
|
NM_000321.3(RB1):c.370A>G (p.Ile124Val)
|
rs769858139
|
0.00001
|
NM_000321.3(RB1):c.395T>A (p.Phe132Tyr)
|
rs762380973
|
0.00001
|
NM_000321.3(RB1):c.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.547A>G (p.Thr183Ala)
|
rs1593437952
|
0.00001
|
NM_000321.3(RB1):c.613G>A (p.Val205Ile)
|
rs770100636
|
0.00001
|
NM_000321.3(RB1):c.630T>A (p.Asp210Glu)
|
rs1952625286
|
0.00001
|
NM_000321.3(RB1):c.634C>A (p.Leu212Met)
|
rs147085238
|
0.00001
|
NM_000321.3(RB1):c.643T>C (p.Ser215Pro)
|
rs748923368
|
0.00001
|
NM_000321.3(RB1):c.694C>T (p.Pro232Ser)
|
rs1195873978
|
0.00001
|
NM_000321.3(RB1):c.752G>A (p.Arg251Gln)
|
rs772678500
|
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.-2T>A
|
|
|
NM_000321.3(RB1):c.-2T>C
|
|
|
NM_000321.3(RB1):c.-2T>G
|
rs1466986201
|
|
NM_000321.3(RB1):c.1001G>A (p.Arg334Lys)
|
|
|
NM_000321.3(RB1):c.1006T>C (p.Phe336Leu)
|
|
|
NM_000321.3(RB1):c.1007T>G (p.Phe336Cys)
|
|
|
NM_000321.3(RB1):c.1011G>A (p.Leu337=)
|
|
|
NM_000321.3(RB1):c.1012G>A (p.Asp338Asn)
|
|
|
NM_000321.3(RB1):c.1022A>G (p.Lys341Arg)
|
rs1393042716
|
|
NM_000321.3(RB1):c.1025C>T (p.Thr342Ile)
|
|
|
NM_000321.3(RB1):c.1030C>A (p.Gln344Lys)
|
|
|
NM_000321.3(RB1):c.1033A>T (p.Thr345Ser)
|
|
|
NM_000321.3(RB1):c.1037A>C (p.Asp346Ala)
|
rs1566194403
|
|
NM_000321.3(RB1):c.1037A>G (p.Asp346Gly)
|
|
|
NM_000321.3(RB1):c.1049+5T>C
|
|
|
NM_000321.3(RB1):c.1049G>A (p.Ser350Asn)
|
|
|
NM_000321.3(RB1):c.1050-5T>C
|
|
|
NM_000321.3(RB1):c.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.1073G>T (p.Arg358Leu)
|
|
|
NM_000321.3(RB1):c.1078A>T (p.Ser360Cys)
|
rs1593449010
|
|
NM_000321.3(RB1):c.1082A>C (p.Asn361Thr)
|
|
|
NM_000321.3(RB1):c.1084C>T (p.Leu362Phe)
|
rs1952727001
|
|
NM_000321.3(RB1):c.1093G>C (p.Glu365Gln)
|
rs1270702085
|
|
NM_000321.3(RB1):c.109A>C (p.Ser37Arg)
|
rs896487590
|
|
NM_000321.3(RB1):c.1108C>T (p.Pro370Ser)
|
rs1168863456
|
|
NM_000321.3(RB1):c.1115A>G (p.His372Arg)
|
|
|
NM_000321.3(RB1):c.1123G>C (p.Val375Leu)
|
rs1952727557
|
|
NM_000321.3(RB1):c.112G>A (p.Gly38Ser)
|
|
|
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.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.1162A>T (p.Ile388Phe)
|
|
|
NM_000321.3(RB1):c.1167A>C (p.Leu389Phe)
|
rs1952784310
|
|
NM_000321.3(RB1):c.1168A>C (p.Asn390His)
|
|
|
NM_000321.3(RB1):c.1177A>G (p.Ser393Gly)
|
|
|
NM_000321.3(RB1):c.1181A>G (p.Asp394Gly)
|
|
|
NM_000321.3(RB1):c.1181A>T (p.Asp394Val)
|
|
|
NM_000321.3(RB1):c.1189T>G (p.Ser397Ala)
|
|
|
NM_000321.3(RB1):c.118G>A (p.Glu40Lys)
|
rs1593412262
|
|
NM_000321.3(RB1):c.1195A>G (p.Asn399Asp)
|
rs2138131269
|
|
NM_000321.3(RB1):c.1205C>T (p.Ser402Phe)
|
rs2138131310
|
|
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.1216-28_1216-3del
|
|
|
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.1238A>G (p.Glu413Gly)
|
|
|
NM_000321.3(RB1):c.1246C>A (p.Leu416Met)
|
|
|
NM_000321.3(RB1):c.124C>A (p.Leu42Met)
|
rs1312883856
|
|
NM_000321.3(RB1):c.1253G>A (p.Arg418Lys)
|
rs1952831579
|
|
NM_000321.3(RB1):c.1258A>G (p.Lys420Glu)
|
|
|
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.1284G>T (p.Glu428Asp)
|
|
|
NM_000321.3(RB1):c.128C>G (p.Pro43Arg)
|
rs1555279239
|
|
NM_000321.3(RB1):c.128C>T (p.Pro43Leu)
|
|
|
NM_000321.3(RB1):c.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.1310G>A (p.Gly437Asp)
|
|
|
NM_000321.3(RB1):c.1310G>C (p.Gly437Ala)
|
|
|
NM_000321.3(RB1):c.1313G>A (p.Cys438Tyr)
|
rs1952832267
|
|
NM_000321.3(RB1):c.1333-9dup
|
rs766968771
|
|
NM_000321.3(RB1):c.1336T>A (p.Tyr446Asn)
|
|
|
NM_000321.3(RB1):c.1337A>G (p.Tyr446Cys)
|
|
|
NM_000321.3(RB1):c.133G>C (p.Val45Leu)
|
|
|
NM_000321.3(RB1):c.1343T>A (p.Leu448His)
|
|
|
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.1364G>C (p.Arg455Pro)
|
rs769425649
|
|
NM_000321.3(RB1):c.1364G>T (p.Arg455Leu)
|
|
|
NM_000321.3(RB1):c.1371G>A (p.Met457Ile)
|
rs1948514269
|
|
NM_000321.3(RB1):c.1374A>C (p.Glu458Asp)
|
|
|
NM_000321.3(RB1):c.1376C>T (p.Ser459Phe)
|
rs1593455667
|
|
NM_000321.3(RB1):c.1390_1392GAA[2] (p.Glu466del)
|
rs1948519753
|
|
NM_000321.3(RB1):c.139C>T (p.Leu47Phe)
|
rs1952088853
|
|
NM_000321.3(RB1):c.13A>G (p.Thr5Ala)
|
rs898303682
|
|
NM_000321.3(RB1):c.13A>T (p.Thr5Ser)
|
|
|
NM_000321.3(RB1):c.1400G>T (p.Arg467Leu)
|
|
|
NM_000321.3(RB1):c.1404A>T (p.Leu468Phe)
|
rs2138142265
|
|
NM_000321.3(RB1):c.1406C>A (p.Ser469Tyr)
|
rs1243796201
|
|
NM_000321.3(RB1):c.1409T>G (p.Ile470Ser)
|
|
|
NM_000321.3(RB1):c.140T>C (p.Leu47Pro)
|
|
|
NM_000321.3(RB1):c.1410T>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+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.143A>G (p.Glu48Gly)
|
rs2138033826
|
|
NM_000321.3(RB1):c.1452G>A (p.Met484Ile)
|
|
|
NM_000321.3(RB1):c.1453T>A (p.Ser485Thr)
|
|
|
NM_000321.3(RB1):c.1462G>A (p.Ala488Thr)
|
|
|
NM_000321.3(RB1):c.1465T>G (p.Cys489Gly)
|
rs1948523129
|
|
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.1474G>A (p.Glu492Lys)
|
rs1060503084
|
|
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.1498A>C (p.Arg500=)
|
rs1593456364
|
|
NM_000321.3(RB1):c.1504A>G (p.Thr502Ala)
|
rs2138144826
|
|
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.1529C>A (p.Thr510Lys)
|
|
|
NM_000321.3(RB1):c.1531G>C (p.Asp511His)
|
rs145729675
|
|
NM_000321.3(RB1):c.1532A>G (p.Asp511Gly)
|
rs1948533324
|
|
NM_000321.3(RB1):c.153A>C (p.Glu51Asp)
|
rs756860689
|
|
NM_000321.3(RB1):c.1543C>T (p.Pro515Ser)
|
rs866664638
|
|
NM_000321.3(RB1):c.154A>G (p.Thr52Ala)
|
|
|
NM_000321.3(RB1):c.1550T>A (p.Ile517Asn)
|
|
|
NM_000321.3(RB1):c.1558G>C (p.Val520Leu)
|
|
|
NM_000321.3(RB1):c.1574C>A (p.Ala525Asp)
|
rs4151539
|
|
NM_000321.3(RB1):c.1576T>C (p.Phe526Leu)
|
|
|
NM_000321.3(RB1):c.157G>C (p.Glu53Gln)
|
|
|
NM_000321.3(RB1):c.1592T>C (p.Val531Ala)
|
|
|
NM_000321.3(RB1):c.1592T>G (p.Val531Gly)
|
|
|
NM_000321.3(RB1):c.1597G>C (p.Glu533Gln)
|
rs1237070816
|
|
NM_000321.3(RB1):c.1613C>T (p.Ala538Val)
|
|
|
NM_000321.3(RB1):c.1619G>A (p.Gly540Asp)
|
|
|
NM_000321.3(RB1):c.1645C>G (p.His549Asp)
|
rs1050717570
|
|
NM_000321.3(RB1):c.1646A>G (p.His549Arg)
|
rs2138145592
|
|
NM_000321.3(RB1):c.164C>T (p.Pro55Leu)
|
|
|
NM_000321.3(RB1):c.1651G>A (p.Glu551Lys)
|
rs147534828
|
|
NM_000321.3(RB1):c.1655G>T (p.Arg552Leu)
|
|
|
NM_000321.3(RB1):c.1661A>G (p.Glu554Gly)
|
|
|
NM_000321.3(RB1):c.1664A>G (p.His555Arg)
|
rs1555286700
|
|
NM_000321.3(RB1):c.1673T>C (p.Met558Thr)
|
|
|
NM_000321.3(RB1):c.1675G>C (p.Glu559Gln)
|
rs1131690869
|
|
NM_000321.3(RB1):c.1678T>A (p.Ser560Thr)
|
|
|
NM_000321.3(RB1):c.1684G>A (p.Ala562Thr)
|
rs2138145788
|
|
NM_000321.3(RB1):c.1684G>T (p.Ala562Ser)
|
|
|
NM_000321.3(RB1):c.1690C>G (p.Leu564Val)
|
|
|
NM_000321.3(RB1):c.1698T>G (p.Asp566Glu)
|
|
|
NM_000321.3(RB1):c.1702C>T (p.Pro568Ser)
|
|
|
NM_000321.3(RB1):c.1703C>T (p.Pro568Leu)
|
|
|
NM_000321.3(RB1):c.1709T>C (p.Phe570Ser)
|
rs2138327013
|
|
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.1745C>A (p.Pro582Gln)
|
|
|
NM_000321.3(RB1):c.1751A>T (p.Asp584Val)
|
|
|
NM_000321.3(RB1):c.1753C>T (p.His585Tyr)
|
rs1401332173
|
|
NM_000321.3(RB1):c.1757T>C (p.Leu586Pro)
|
|
|
NM_000321.3(RB1):c.175_177delinsCCT (p.Ala59Pro)
|
rs1593414375
|
|
NM_000321.3(RB1):c.1763C>T (p.Ser588Phe)
|
rs1555293637
|
|
NM_000321.3(RB1):c.1765G>A (p.Ala589Thr)
|
rs1949338354
|
|
NM_000321.3(RB1):c.1766C>G (p.Ala589Gly)
|
rs779045727
|
|
NM_000321.3(RB1):c.1768T>G (p.Cys590Gly)
|
rs1060503089
|
|
NM_000321.3(RB1):c.1772C>T (p.Pro591Leu)
|
rs1221157259
|
|
NM_000321.3(RB1):c.1775T>C (p.Leu592Pro)
|
|
|
NM_000321.3(RB1):c.1786C>G (p.Leu596Val)
|
|
|
NM_000321.3(RB1):c.1796A>G (p.Asn599Ser)
|
|
|
NM_000321.3(RB1):c.1802C>G (p.Thr601Ser)
|
rs910909092
|
|
NM_000321.3(RB1):c.1802C>T (p.Thr601Ile)
|
|
|
NM_000321.3(RB1):c.1805C>A (p.Ala602Glu)
|
|
|
NM_000321.3(RB1):c.1810G>A (p.Asp604Asn)
|
rs2138327415
|
|
NM_000321.3(RB1):c.1814+4A>G
|
rs1131690898
|
|
NM_000321.3(RB1):c.1814T>C (p.Met605Thr)
|
rs1555293654
|
|
NM_000321.3(RB1):c.1815-4C>T
|
rs1593531868
|
|
NM_000321.3(RB1):c.1817A>G (p.Tyr606Cys)
|
|
|
NM_000321.3(RB1):c.1828G>A (p.Val610Ile)
|
|
|
NM_000321.3(RB1):c.1829T>C (p.Val610Ala)
|
rs934931283
|
|
NM_000321.3(RB1):c.1837C>G (p.Pro613Ala)
|
|
|
NM_000321.3(RB1):c.1844A>G (p.Lys615Arg)
|
rs1334513810
|
|
NM_000321.3(RB1):c.1850G>C (p.Gly617Ala)
|
|
|
NM_000321.3(RB1):c.1858A>G (p.Thr620Ala)
|
|
|
NM_000321.3(RB1):c.1864G>A (p.Val622Ile)
|
rs2138331204
|
|
NM_000321.3(RB1):c.1883C>G (p.Ala628Gly)
|
rs1329826610
|
|
NM_000321.3(RB1):c.1886A>G (p.Glu629Gly)
|
|
|
NM_000321.3(RB1):c.1887G>T (p.Glu629Asp)
|
|
|
NM_000321.3(RB1):c.1892A>G (p.Gln631Arg)
|
rs1593532019
|
|
NM_000321.3(RB1):c.1895C>A (p.Ala632Glu)
|
rs1949359489
|
|
NM_000321.3(RB1):c.1898C>A (p.Thr633Asn)
|
rs587778641
|
|
NM_000321.3(RB1):c.1912A>G (p.Thr638Ala)
|
|
|
NM_000321.3(RB1):c.1916A>G (p.Gln639Arg)
|
rs775880919
|
|
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.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.1961-4A>G
|
|
|
NM_000321.3(RB1):c.1961T>C (p.Val654Ala)
|
rs769113950
|
|
NM_000321.3(RB1):c.1961T>G (p.Val654Gly)
|
|
|
NM_000321.3(RB1):c.1963T>G (p.Tyr655Asp)
|
|
|
NM_000321.3(RB1):c.1973C>T (p.Ala658Val)
|
|
|
NM_000321.3(RB1):c.1991C>T (p.Thr664Ile)
|
rs749739772
|
|
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.2002C>A (p.Arg668Ser)
|
rs369755801
|
|
NM_000321.3(RB1):c.2033A>G (p.His678Arg)
|
rs201046651
|
|
NM_000321.3(RB1):c.2035A>G (p.Ile679Val)
|
rs897199998
|
|
NM_000321.3(RB1):c.203A>C (p.Asp68Ala)
|
|
|
NM_000321.3(RB1):c.2058C>A (p.His686Gln)
|
rs748484148
|
|
NM_000321.3(RB1):c.2060C>G (p.Thr687Ser)
|
|
|
NM_000321.3(RB1):c.2083A>T (p.Met695Leu)
|
|
|
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+3A>G
|
rs1353683992
|
|
NM_000321.3(RB1):c.2122A>G (p.Met708Val)
|
|
|
NM_000321.3(RB1):c.2138A>G (p.Lys713Arg)
|
rs1593538161
|
|
NM_000321.3(RB1):c.214G>A (p.Glu72Lys)
|
|
|
NM_000321.3(RB1):c.2165A>G (p.Lys722Arg)
|
|
|
NM_000321.3(RB1):c.2173G>T (p.Val725Leu)
|
|
|
NM_000321.3(RB1):c.2179G>T (p.Ala727Ser)
|
|
|
NM_000321.3(RB1):c.217A>G (p.Arg73Gly)
|
|
|
NM_000321.3(RB1):c.2198A>G (p.His733Arg)
|
rs778503152
|
|
NM_000321.3(RB1):c.219A>C (p.Arg73Ser)
|
rs1131690854
|
|
NM_000321.3(RB1):c.2207A>C (p.Gln736Pro)
|
rs1372842030
|
|
NM_000321.3(RB1):c.220G>A (p.Ala74Thr)
|
rs1952090208
|
|
NM_000321.3(RB1):c.2211+4G>A
|
|
|
NM_000321.3(RB1):c.2211+4G>T
|
rs1060503076
|
|
NM_000321.3(RB1):c.2218A>G (p.Lys740Glu)
|
|
|
NM_000321.3(RB1):c.221C>T (p.Ala74Val)
|
|
|
NM_000321.3(RB1):c.2228T>C (p.Leu743Ser)
|
|
|
NM_000321.3(RB1):c.2229G>T (p.Leu743Phe)
|
|
|
NM_000321.3(RB1):c.2237A>G (p.Glu746Gly)
|
|
|
NM_000321.3(RB1):c.2239GAG[1] (p.Glu748del)
|
rs2138344648
|
|
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.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.2282T>C (p.Met761Thr)
|
|
|
NM_000321.3(RB1):c.2284C>A (p.Gln762Lys)
|
rs1593539225
|
|
NM_000321.3(RB1):c.2288G>A (p.Arg763Lys)
|
rs2138344904
|
|
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.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.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.2345T>C (p.Ile782Thr)
|
rs1949432262
|
|
NM_000321.3(RB1):c.235G>C (p.Glu79Gln)
|
rs1060503090
|
|
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.2373G>T (p.Lys791Asn)
|
|
|
NM_000321.3(RB1):c.2381G>A (p.Ser794Asn)
|
|
|
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.2404G>A (p.Gly802Arg)
|
|
|
NM_000321.3(RB1):c.2405G>A (p.Gly802Glu)
|
|
|
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.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.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.2477C>A (p.Thr826Asn)
|
|
|
NM_000321.3(RB1):c.2479C>T (p.Pro827Ser)
|
|
|
NM_000321.3(RB1):c.2489+4T>C
|
|
|
NM_000321.3(RB1):c.2490-10_2490-6del
|
rs1224162129
|
|
NM_000321.3(RB1):c.2490-5G>A
|
rs1593544633
|
|
NM_000321.3(RB1):c.2497G>A (p.Val833Ile)
|
rs2138354621
|
|
NM_000321.3(RB1):c.24A>C (p.Lys8Asn)
|
|
|
NM_000321.3(RB1):c.2504T>C (p.Ile835Thr)
|
|
|
NM_000321.3(RB1):c.2511A>G (p.Glu837=)
|
rs1949484299
|
|
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.2533T>C (p.Phe845Leu)
|
rs754183765
|
|
NM_000321.3(RB1):c.2540A>G (p.Lys847Arg)
|
|
|
NM_000321.3(RB1):c.2551A>G (p.Met851Val)
|
|
|
NM_000321.3(RB1):c.2557T>G (p.Cys853Gly)
|
rs1295589257
|
|
NM_000321.3(RB1):c.2558G>A (p.Cys853Tyr)
|
rs1566240940
|
|
NM_000321.3(RB1):c.2566G>T (p.Asp856Tyr)
|
rs149359120
|
|
NM_000321.3(RB1):c.2569C>T (p.Arg857Cys)
|
|
|
NM_000321.3(RB1):c.2570G>T (p.Arg857Leu)
|
rs144668210
|
|
NM_000321.3(RB1):c.2572G>C (p.Val858Leu)
|
|
|
NM_000321.3(RB1):c.2575C>T (p.Leu859Phe)
|
|
|
NM_000321.3(RB1):c.2587G>A (p.Ala863Thr)
|
rs1949506505
|
|
NM_000321.3(RB1):c.2588C>A (p.Ala863Asp)
|
|
|
NM_000321.3(RB1):c.2597G>A (p.Ser866Asn)
|
rs1593547165
|
|
NM_000321.3(RB1):c.2605C>T (p.Pro869Ser)
|
|
|
NM_000321.3(RB1):c.2609A>G (p.Lys870Arg)
|
|
|
NM_000321.3(RB1):c.2611C>A (p.Pro871Thr)
|
|
|
NM_000321.3(RB1):c.2615T>C (p.Leu872Pro)
|
rs1470516350
|
|
NM_000321.3(RB1):c.2627G>A (p.Arg876His)
|
rs767232453
|
|
NM_000321.3(RB1):c.2632G>A (p.Asp878Asn)
|
|
|
NM_000321.3(RB1):c.264+5G>C
|
rs1131690853
|
|
NM_000321.3(RB1):c.2642G>A (p.Gly881Glu)
|
|
|
NM_000321.3(RB1):c.2642G>C (p.Gly881Ala)
|
rs1949507139
|
|
NM_000321.3(RB1):c.2648A>G (p.Asp883Gly)
|
|
|
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.2704G>A (p.Ala902Thr)
|
|
|
NM_000321.3(RB1):c.2712G>T (p.Met904Ile)
|
rs1461167778
|
|
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.2735A>G (p.Gln912Arg)
|
rs1949528429
|
|
NM_000321.3(RB1):c.2737A>G (p.Lys913Glu)
|
|
|
NM_000321.3(RB1):c.2750A>G (p.Asn917Ser)
|
rs1475201975
|
|
NM_000321.3(RB1):c.2755A>G (p.Ser919Gly)
|
rs1555295597
|
|
NM_000321.3(RB1):c.2758A>G (p.Met920Val)
|
|
|
NM_000321.3(RB1):c.2764A>G (p.Thr922Ala)
|
rs1949528678
|
|
NM_000321.3(RB1):c.2777A>G (p.Glu926Gly)
|
rs1593549718
|
|
NM_000321.3(RB1):c.2782A>T (p.Lys928Ter)
|
|
|
NM_000321.3(RB1):c.283A>C (p.Lys95Gln)
|
|
|
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.319G>A (p.Ala107Thr)
|
|
|
NM_000321.3(RB1):c.32C>G (p.Ala11Gly)
|
rs899323337
|
|
NM_000321.3(RB1):c.32C>T (p.Ala11Val)
|
|
|
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.34_36dup (p.Thr12_Ala13insThr)
|
|
|
NM_000321.3(RB1):c.34_51del (p.Thr12_Ala17del)
|
|
|
NM_000321.3(RB1):c.357G>T (p.Glu119Asp)
|
rs1593434283
|
|
NM_000321.3(RB1):c.364A>C (p.Lys122Gln)
|
|
|
NM_000321.3(RB1):c.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.381-4G>T
|
|
|
NM_000321.3(RB1):c.382G>A (p.Val128Ile)
|
|
|
NM_000321.3(RB1):c.387T>G (p.His129Gln)
|
rs1593435676
|
|
NM_000321.3(RB1):c.389A>C (p.Lys130Thr)
|
rs1593435682
|
|
NM_000321.3(RB1):c.38C>G (p.Ala13Gly)
|
|
|
NM_000321.3(RB1):c.392T>C (p.Phe131Ser)
|
rs1593435687
|
|
NM_000321.3(RB1):c.393C>A (p.Phe131Leu)
|
rs749495284
|
|
NM_000321.3(RB1):c.397A>C (p.Asn133His)
|
rs3092900
|
|
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.421A>G (p.Ser141Gly)
|
|
|
NM_000321.3(RB1):c.436A>C (p.Asn146His)
|
rs1266294051
|
|
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.464A>G (p.Tyr155Cys)
|
|
|
NM_000321.3(RB1):c.466G>C (p.Asp156His)
|
rs1034616967
|
|
NM_000321.3(RB1):c.466G>T (p.Asp156Tyr)
|
rs1034616967
|
|
NM_000321.3(RB1):c.474G>T (p.Leu158Phe)
|
rs1319691084
|
|
NM_000321.3(RB1):c.477T>A (p.Phe159Leu)
|
rs1952481513
|
|
NM_000321.3(RB1):c.481C>T (p.Leu161Phe)
|
|
|
NM_000321.3(RB1):c.49G>A (p.Ala17Thr)
|
rs1566174092
|
|
NM_000321.3(RB1):c.49G>T (p.Ala17Ser)
|
|
|
NM_000321.3(RB1):c.500G>A (p.Arg167Lys)
|
|
|
NM_000321.3(RB1):c.500G>C (p.Arg167Thr)
|
|
|
NM_000321.3(RB1):c.501-2A>G
|
|
|
NM_000321.3(RB1):c.503C>T (p.Thr168Ile)
|
|
|
NM_000321.3(RB1):c.50C>T (p.Ala17Val)
|
rs1593412070
|
|
NM_000321.3(RB1):c.514A>G (p.Ile172Val)
|
rs2138091600
|
|
NM_000321.3(RB1):c.514A>T (p.Ile172Leu)
|
|
|
NM_000321.3(RB1):c.515T>C (p.Ile172Thr)
|
rs1952511717
|
|
NM_000321.3(RB1):c.516A>G (p.Ile172Met)
|
|
|
NM_000321.3(RB1):c.529C>G (p.Pro177Ala)
|
|
|
NM_000321.3(RB1):c.529C>T (p.Pro177Ser)
|
rs1357310270
|
|
NM_000321.3(RB1):c.530C>G (p.Pro177Arg)
|
rs1952511945
|
|
NM_000321.3(RB1):c.531CAG[1] (p.Ser180del)
|
|
|
NM_000321.3(RB1):c.533G>A (p.Ser178Asn)
|
|
|
NM_000321.3(RB1):c.539+1G>T
|
|
|
NM_000321.3(RB1):c.541A>G (p.Ile181Val)
|
rs781708508
|
|
NM_000321.3(RB1):c.545C>T (p.Ser182Phe)
|
|
|
NM_000321.3(RB1):c.548C>T (p.Thr183Ile)
|
rs1952522583
|
|
NM_000321.3(RB1):c.552A>C (p.Glu184Asp)
|
rs1220347917
|
|
NM_000321.3(RB1):c.554T>G (p.Ile185Arg)
|
|
|
NM_000321.3(RB1):c.557A>G (p.Asn186Ser)
|
|
|
NM_000321.3(RB1):c.560C>G (p.Ser187Cys)
|
rs770277291
|
|
NM_000321.3(RB1):c.562G>A (p.Ala188Thr)
|
rs1189153218
|
|
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.58C>T (p.Pro20Ser)
|
|
|
NM_000321.3(RB1):c.590C>A (p.Thr197Lys)
|
rs1131690883
|
|
NM_000321.3(RB1):c.607+5G>A
|
rs2138093817
|
|
NM_000321.3(RB1):c.607G>T (p.Gly203Trp)
|
rs1012377281
|
|
NM_000321.3(RB1):c.608G>A (p.Gly203Glu)
|
rs2138107541
|
|
NM_000321.3(RB1):c.611A>G (p.Glu204Gly)
|
|
|
NM_000321.3(RB1):c.624G>A (p.Met208Ile)
|
|
|
NM_000321.3(RB1):c.62C>T (p.Pro21Leu)
|
rs1444353743
|
|
NM_000321.3(RB1):c.644C>T (p.Ser215Leu)
|
rs768305224
|
|
NM_000321.3(RB1):c.674A>G (p.Tyr225Cys)
|
rs771567627
|
|
NM_000321.3(RB1):c.679A>G (p.Ile227Val)
|
|
|
NM_000321.3(RB1):c.683A>G (p.Lys228Arg)
|
|
|
NM_000321.3(RB1):c.689C>T (p.Ser230Leu)
|
rs1459523811
|
|
NM_000321.3(RB1):c.68C>G (p.Pro23Arg)
|
|
|
NM_000321.3(RB1):c.68C>T (p.Pro23Leu)
|
rs1952053594
|
|
NM_000321.3(RB1):c.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>T (p.Leu235Phe)
|
|
|
NM_000321.3(RB1):c.712C>G (p.Pro238Ala)
|
|
|
NM_000321.3(RB1):c.715T>C (p.Tyr239His)
|
|
|
NM_000321.3(RB1):c.718+5G>T
|
rs1131690848
|
|
NM_000321.3(RB1):c.718A>G (p.Lys240Glu)
|
rs2138108056
|
|
NM_000321.3(RB1):c.719-4A>G
|
|
|
NM_000321.3(RB1):c.71C>A (p.Pro24Gln)
|
|
|
NM_000321.3(RB1):c.722C>T (p.Thr241Ile)
|
rs1593445085
|
|
NM_000321.3(RB1):c.724G>A (p.Ala242Thr)
|
|
|
NM_000321.3(RB1):c.727G>C (p.Val243Leu)
|
rs1952655034
|
|
NM_000321.3(RB1):c.739A>G (p.Asn247Asp)
|
rs1429451823
|
|
NM_000321.3(RB1):c.745T>A (p.Ser249Thr)
|
rs2138112221
|
|
NM_000321.3(RB1):c.748C>T (p.Pro250Ser)
|
rs1566192505
|
|
NM_000321.3(RB1):c.74C>T (p.Pro25Leu)
|
rs1593412158
|
|
NM_000321.3(RB1):c.751C>G (p.Arg251Gly)
|
|
|
NM_000321.3(RB1):c.760A>G (p.Arg254Gly)
|
rs2138112300
|
|
NM_000321.3(RB1):c.764G>A (p.Arg255Gln)
|
rs746954896
|
|
NM_000321.3(RB1):c.76C>T (p.Pro26Ser)
|
|
|
NM_000321.3(RB1):c.770A>G (p.Gln257Arg)
|
rs1232080974
|
|
NM_000321.3(RB1):c.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.79C>T (p.Pro27Ser)
|
rs1309325353
|
|
NM_000321.3(RB1):c.807T>G (p.Asn269Lys)
|
rs922948338
|
|
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.817A>G (p.Ile273Val)
|
|
|
NM_000321.3(RB1):c.820A>G (p.Ile274Val)
|
|
|
NM_000321.3(RB1):c.82C>A (p.Pro28Thr)
|
|
|
NM_000321.3(RB1):c.83C>T (p.Pro28Leu)
|
rs776175164
|
|
NM_000321.3(RB1):c.841C>T (p.His281Tyr)
|
rs933023013
|
|
NM_000321.3(RB1):c.842A>G (p.His281Arg)
|
|
|
NM_000321.3(RB1):c.853A>G (p.Ile285Val)
|
rs1593445228
|
|
NM_000321.3(RB1):c.855A>G (p.Ile285Met)
|
rs1566192594
|
|
NM_000321.3(RB1):c.867A>C (p.Lys289Asn)
|
rs1555285126
|
|
NM_000321.3(RB1):c.871G>A (p.Val291Ile)
|
|
|
NM_000321.3(RB1):c.881A>C (p.Lys294Thr)
|
rs1453047397
|
|
NM_000321.3(RB1):c.884A>G (p.Asn295Ser)
|
rs2138116381
|
|
NM_000321.3(RB1):c.889A>T (p.Ile297Leu)
|
rs1286975378
|
|
NM_000321.3(RB1):c.88G>C (p.Glu30Gln)
|
rs1555279228
|
|
NM_000321.3(RB1):c.893C>A (p.Pro298His)
|
|
|
NM_000321.3(RB1):c.893C>T (p.Pro298Leu)
|
|
|
NM_000321.3(RB1):c.899T>C (p.Met300Thr)
|
|
|
NM_000321.3(RB1):c.905C>A (p.Ser302Tyr)
|
rs1208736713
|
|
NM_000321.3(RB1):c.907C>G (p.Leu303Val)
|
|
|
NM_000321.3(RB1):c.907C>T (p.Leu303Phe)
|
|
|
NM_000321.3(RB1):c.908T>G (p.Leu303Arg)
|
rs900955797
|
|
NM_000321.3(RB1):c.913C>T (p.Leu305Phe)
|
rs1292944238
|
|
NM_000321.3(RB1):c.916G>A (p.Val306Ile)
|
|
|
NM_000321.3(RB1):c.920C>G (p.Thr307Arg)
|
|
|
NM_000321.3(RB1):c.923C>T (p.Ser308Phe)
|
|
|
NM_000321.3(RB1):c.925A>G (p.Asn309Asp)
|
|
|
NM_000321.3(RB1):c.926A>G (p.Asn309Ser)
|
rs1952680701
|
|
NM_000321.3(RB1):c.939+5T>G
|
rs1952680873
|
|
NM_000321.3(RB1):c.941T>C (p.Val314Ala)
|
|
|
NM_000321.3(RB1):c.94G>A (p.Asp32Asn)
|
rs1593412219
|
|
NM_000321.3(RB1):c.959G>T (p.Arg320Leu)
|
rs760787104
|
|
NM_000321.3(RB1):c.962A>G (p.Tyr321Cys)
|
rs1566194338
|
|
NM_000321.3(RB1):c.964G>A (p.Glu322Lys)
|
rs776534331
|
|
NM_000321.3(RB1):c.969A>C (p.Glu323Asp)
|
|
|
NM_000321.3(RB1):c.974A>C (p.Tyr325Ser)
|
|
|
NM_000321.3(RB1):c.976C>T (p.Leu326Phe)
|
rs1566194351
|
|
NM_000321.3(RB1):c.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.989A>T (p.Asp330Val)
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NM_000321.3(RB1):c.990T>G (p.Asp330Glu)
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