ClinVar Miner

List of variants reported as uncertain significance for hereditary retinoblastoma by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1017
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HGVS dbSNP gnomAD frequency
NM_000321.3(RB1):c.1745C>G (p.Pro582Arg) rs757198343 0.00003
NM_000321.3(RB1):c.1922C>A (p.Pro641Gln) rs1249069450 0.00003
NM_000321.3(RB1):c.-1C>T rs754354560 0.00002
NM_000321.3(RB1):c.1083C>A (p.Asn361Lys) rs976503237 0.00002
NM_000321.3(RB1):c.1240A>C (p.Ser414Arg) rs974956317 0.00002
NM_000321.3(RB1):c.2461A>G (p.Thr821Ala) rs761015353 0.00002
NM_000321.3(RB1):c.2489+3G>T rs1057505320 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.897T>A (p.Phe299Leu) rs772362181 0.00002
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.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.1144A>G (p.Ile382Val) rs1286489738 0.00001
NM_000321.3(RB1):c.1163T>G (p.Ile388Ser) rs373623059 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.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.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.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.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.1681C>T (p.Leu561Phe) rs761257231 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.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.20G>A (p.Arg7Gln) rs564059250 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.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.2381G>C (p.Ser794Thr) rs1240896329 0.00001
NM_000321.3(RB1):c.238A>G (p.Lys80Glu) rs751870680 0.00001
NM_000321.3(RB1):c.2418T>G (p.Ile806Met) rs1368593116 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.2705C>A (p.Ala902Glu) rs781740936 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.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.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.71C>T (p.Pro24Leu) rs1285455572 0.00001
NM_000321.3(RB1):c.73C>T (p.Pro25Ser) rs1566174119 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.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.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.(?_48611883)_(49054207_?)dup
NC_000013.10:g.(?_48615046)_(48930735_?)del
NC_000013.10:g.(?_48877971)_(48878195_?)dup
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.48303678G>A
NC_000013.11:g.48303679C>G
NC_000013.11:g.48303683_48303684delinsAA
NC_000013.11:g.48303685C>G
NC_000013.11:g.48303690G>C
NC_000013.11:g.48303691C>A
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
NC_000013.11:g.48303748C>T
NM_000321.2(RB1):c.-221_-199del23
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.-157C>G
NM_000321.3(RB1):c.-158G>A
NM_000321.3(RB1):c.-15C>G
NM_000321.3(RB1):c.-15C>T
NM_000321.3(RB1):c.-160T>C
NM_000321.3(RB1):c.-29C>G
NM_000321.3(RB1):c.-2_8del (p.Met1fs)
NM_000321.3(RB1):c.-37C>A
NM_000321.3(RB1):c.-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.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.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.1036G>C (p.Asp346His) rs2138121489
NM_000321.3(RB1):c.1037A>C (p.Asp346Ala) rs1566194403
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>G rs1593448511
NM_000321.3(RB1):c.1050-11T>G
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.107A>G (p.Asp36Gly) rs2138027852
NM_000321.3(RB1):c.1080T>G (p.Ser360Arg) rs1198811715
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.1108C>T (p.Pro370Ser) rs1168863456
NM_000321.3(RB1):c.1111C>T (p.Pro371Ser) rs1952727399
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.1132G>A (p.Val378Ile)
NM_000321.3(RB1):c.1142C>T (p.Thr381Ile)
NM_000321.3(RB1):c.1148A>G (p.Gln383Arg) rs2138131004
NM_000321.3(RB1):c.1159A>G (p.Met387Val) rs190689977
NM_000321.3(RB1):c.1159A>T (p.Met387Leu) rs190689977
NM_000321.3(RB1):c.115C>A (p.Pro39Thr) rs2138027915
NM_000321.3(RB1):c.1160T>C (p.Met387Thr) rs767908749
NM_000321.3(RB1):c.1162A>C (p.Ile388Leu)
NM_000321.3(RB1):c.1162A>G (p.Ile388Val)
NM_000321.3(RB1):c.1163T>C (p.Ile388Thr) rs373623059
NM_000321.3(RB1):c.1163_1168dup (p.Ile388_Leu389dup) rs1375214454
NM_000321.3(RB1):c.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.1178G>A (p.Ser393Asn)
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.1208A>G (p.Tyr403Cys)
NM_000321.3(RB1):c.1216-17_1216-16delinsTG
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.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.1241G>A (p.Ser414Asn) rs1952831176
NM_000321.3(RB1):c.1243A>G (p.Ile415Val) rs1346693507
NM_000321.3(RB1):c.1245A>G (p.Ile415Met)
NM_000321.3(RB1):c.1247T>C (p.Leu416Pro)
NM_000321.3(RB1):c.124C>A (p.Leu42Met) 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.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.1283A>G (p.Glu428Gly) rs1952831856
NM_000321.3(RB1):c.1287A>C (p.Lys429Asn)
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.130C>A (p.Leu44Ile) rs1345893304
NM_000321.3(RB1):c.130C>G (p.Leu44Val) rs1345893304
NM_000321.3(RB1):c.130C>T (p.Leu44Phe)
NM_000321.3(RB1):c.1310G>T (p.Gly437Val) rs1952832211
NM_000321.3(RB1):c.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.1336T>C (p.Tyr446His) rs1948513840
NM_000321.3(RB1):c.133G>T (p.Val45Phe)
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.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.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.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.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.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.140T>G (p.Leu47Arg) rs2138033812
NM_000321.3(RB1):c.1412A>G (p.Gln471Arg) rs1948520103
NM_000321.3(RB1):c.1421+4_1421+29del rs2138142387
NM_000321.3(RB1):c.1421+5A>G
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.1453T>C (p.Ser485Pro) rs1948522903
NM_000321.3(RB1):c.1454C>G (p.Ser485Cys) rs1431881254
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>T (p.Ala490Ser) rs201458896
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.1483A>T (p.Met495Leu)
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.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.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>C (p.Asp507His) rs2138144909
NM_000321.3(RB1):c.1526G>C (p.Gly509Ala) rs1555286684
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.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>T (p.Ala525Val) rs4151539
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.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.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.1646A>G (p.His549Arg) rs2138145592
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.1675G>A (p.Glu559Lys)
NM_000321.3(RB1):c.1678T>C (p.Ser560Pro) rs1593457138
NM_000321.3(RB1):c.1684G>C (p.Ala562Pro) rs2138145788
NM_000321.3(RB1):c.1685C>T (p.Ala562Val) rs1948535194
NM_000321.3(RB1):c.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.1696-3T>C
NM_000321.3(RB1):c.1696-5T>G rs1593529861
NM_000321.3(RB1):c.1707A>T (p.Leu569Phe) rs3092895
NM_000321.3(RB1):c.1710T>A (p.Phe570Leu)
NM_000321.3(RB1):c.1712A>T (p.Asp571Val)
NM_000321.3(RB1):c.1718T>C (p.Ile573Thr)
NM_000321.3(RB1):c.1720A>G (p.Lys574Glu) rs1593529910
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.173C>G (p.Thr58Ser)
NM_000321.3(RB1):c.1742G>T (p.Gly581Val)
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.175G>A (p.Ala59Thr)
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.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.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.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.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.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.1823C>A (p.Ser608Tyr)
NM_000321.3(RB1):c.1823C>G (p.Ser608Cys)
NM_000321.3(RB1):c.1826C>T (p.Pro609Leu)
NM_000321.3(RB1):c.1828G>A (p.Val610Ile)
NM_000321.3(RB1):c.1828G>T (p.Val610Leu) rs762613976
NM_000321.3(RB1):c.1829T>C (p.Val610Ala) rs934931283
NM_000321.3(RB1):c.182G>A (p.Cys61Tyr) rs1593414390
NM_000321.3(RB1):c.1832G>A (p.Arg611Lys)
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>T (p.Gly617Val)
NM_000321.3(RB1):c.1855A>G (p.Thr619Ala)
NM_000321.3(RB1):c.1859C>A (p.Thr620Lys) rs554834063
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.1889C>T (p.Thr630Ile) rs1593532012
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.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.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.1946T>C (p.Leu649Pro)
NM_000321.3(RB1):c.1946T>G (p.Leu649Arg)
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.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.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.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>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>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.205C>G (p.His69Asp)
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.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.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.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.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.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.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+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.221C>G (p.Ala74Gly) rs764472420
NM_000321.3(RB1):c.2221C>A (p.Arg741Ser) rs529366765
NM_000321.3(RB1):c.2224G>C (p.Val742Leu) rs1060503083
NM_000321.3(RB1):c.2228T>C (p.Leu743Ser)
NM_000321.3(RB1):c.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.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.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.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.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.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.2324G>A (p.Arg775Lys) rs1593539271
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>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.2327C>A (p.Pro776His) rs912203557
NM_000321.3(RB1):c.2333C>T (p.Thr778Ile) rs1593539364
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.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.2372A>G (p.Lys791Arg) rs777670056
NM_000321.3(RB1):c.2375T>C (p.Phe792Ser) rs2138345676
NM_000321.3(RB1):c.2377C>T (p.Pro793Ser) rs947540268
NM_000321.3(RB1):c.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.2398C>T (p.Pro800Ser) rs1949432999
NM_000321.3(RB1):c.2401G>A (p.Gly801Arg) rs2138345814
NM_000321.3(RB1):c.240A>T (p.Lys80Asn)
NM_000321.3(RB1):c.2414A>G (p.Tyr805Cys)
NM_000321.3(RB1):c.2420C>T (p.Ser807Leu)
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.2442A>C (p.Lys814Asn) rs1566237790
NM_000321.3(RB1):c.2449G>C (p.Glu817Gln) rs762271261
NM_000321.3(RB1):c.244T>A (p.Ser82Thr)
NM_000321.3(RB1):c.2450A>G (p.Glu817Gly) rs1949433558
NM_000321.3(RB1):c.2450_2452del (p.Glu817del)
NM_000321.3(RB1):c.2453G>A (p.Gly818Asp) rs1949433617
NM_000321.3(RB1):c.245C>T (p.Ser82Leu)
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.2479C>G (p.Pro827Ala) rs1949433950
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.2490-30A>C
NM_000321.3(RB1):c.2491A>C (p.Ile831Leu) rs761068783
NM_000321.3(RB1):c.2497G>A (p.Val833Ile) rs2138354621
NM_000321.3(RB1):c.2497G>C (p.Val833Leu)
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.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.254A>G (p.Asp85Gly) rs1952090656
NM_000321.3(RB1):c.2552T>C (p.Met851Thr) rs1566240932
NM_000321.3(RB1):c.2555T>G (p.Val852Gly)
NM_000321.3(RB1):c.2557T>G (p.Cys853Gly) rs1295589257
NM_000321.3(RB1):c.2558G>A (p.Cys853Tyr) rs1566240940
NM_000321.3(RB1):c.2560A>G (p.Asn854Asp)
NM_000321.3(RB1):c.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.2570G>T (p.Arg857Leu) rs144668210
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.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.2598C>A (p.Ser866Arg) rs1949506601
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.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.263T>G (p.Leu88Trp) rs1555279518
NM_000321.3(RB1):c.2641G>C (p.Gly881Arg)
NM_000321.3(RB1):c.2642G>C (p.Gly881Ala) rs1949507139
NM_000321.3(RB1):c.2644T>G (p.Ser882Ala)
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.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.2714-16_2714-14del
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.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.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>C (p.Gly100Ala) rs886050268
NM_000321.3(RB1):c.301A>G (p.Ile101Val) rs1555282783
NM_000321.3(RB1):c.310T>C (p.Phe104Leu)
NM_000321.3(RB1):c.317C>T (p.Ala106Val)
NM_000321.3(RB1):c.31G>T (p.Ala11Ser) rs587778852
NM_000321.3(RB1):c.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.334G>A (p.Glu112Lys) rs1199831823
NM_000321.3(RB1):c.337A>C (p.Met113Leu) rs1593434246
NM_000321.3(RB1):c.339G>A (p.Met113Ile) rs1593434250
NM_000321.3(RB1):c.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.352A>G (p.Thr118Ala)
NM_000321.3(RB1):c.357G>T (p.Glu119Asp) rs1593434283
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.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.381T>C (p.Ser127=) rs780321508
NM_000321.3(RB1):c.382G>C (p.Val128Leu) rs1952480074
NM_000321.3(RB1):c.382G>T (p.Val128Phe)
NM_000321.3(RB1):c.383T>C (p.Val128Ala) rs1566186839
NM_000321.3(RB1):c.385C>T (p.His129Tyr) rs1952480132
NM_000321.3(RB1):c.387T>G (p.His129Gln) rs1593435676
NM_000321.3(RB1):c.389A>C (p.Lys130Thr) rs1593435682
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>T (p.Asn133Tyr) rs3092900
NM_000321.3(RB1):c.399C>G (p.Asn133Lys) rs765277265
NM_000321.3(RB1):c.419C>A (p.Thr140Asn) rs2138087361
NM_000321.3(RB1):c.422G>A (p.Ser141Asn) rs2138087383
NM_000321.3(RB1):c.428A>C (p.Lys143Thr) rs1952480749
NM_000321.3(RB1):c.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.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.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.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.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.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.501-2A>G
NM_000321.3(RB1):c.501G>T (p.Arg167Ser)
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>T (p.Pro177Ser) rs1357310270
NM_000321.3(RB1):c.52G>A (p.Ala18Thr) rs528218090
NM_000321.3(RB1):c.530C>A (p.Pro177His) rs1952511945
NM_000321.3(RB1):c.530C>G (p.Pro177Arg) rs1952511945
NM_000321.3(RB1):c.530C>T (p.Pro177Leu)
NM_000321.3(RB1):c.533G>A (p.Ser178Asn)
NM_000321.3(RB1):c.534C>G (p.Ser178Arg)
NM_000321.3(RB1):c.535A>G (p.Ser179Gly) rs970490020
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.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.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.577G>C (p.Val193Leu) rs1952523027
NM_000321.3(RB1):c.578T>C (p.Val193Ala) rs1060503093
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.600A>C (p.Leu200Phe)
NM_000321.3(RB1):c.607G>A (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>T (p.Glu204Val)
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.62C>G (p.Pro21Arg) 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.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>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.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.712C>T (p.Pro238Ser)
NM_000321.3(RB1):c.718+3A>G
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.722C>T (p.Thr241Ile) rs1593445085
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.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.78_83dup (p.Pro28_Pro29dup) rs1555279223
NM_000321.3(RB1):c.791C>G (p.Ala264Gly)
NM_000321.3(RB1):c.794AAC[3] (p.Gln266dup) rs2138112498
NM_000321.3(RB1):c.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.815G>A (p.Arg272Lys) rs2138112612
NM_000321.3(RB1):c.826G>T (p.Val276Phe) rs2138112665
NM_000321.3(RB1):c.82C>T (p.Pro28Ser)
NM_000321.3(RB1):c.838G>A (p.Glu280Lys) rs2138112743
NM_000321.3(RB1):c.840A>T (p.Glu280Asp)
NM_000321.3(RB1):c.841C>T (p.His281Tyr) rs933023013
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.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.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.898A>G (p.Met300Val) rs1060503086
NM_000321.3(RB1):c.899T>C (p.Met300Thr)
NM_000321.3(RB1):c.899T>G (p.Met300Arg)
NM_000321.3(RB1):c.8C>T (p.Pro3Leu)
NM_000321.3(RB1):c.901A>G (p.Asn301Asp)
NM_000321.3(RB1):c.905C>A (p.Ser302Tyr) rs1208736713
NM_000321.3(RB1):c.905C>G (p.Ser302Cys)
NM_000321.3(RB1):c.908T>C (p.Leu303Pro) rs900955797
NM_000321.3(RB1):c.908T>G (p.Leu303Arg) rs900955797
NM_000321.3(RB1):c.913C>G (p.Leu305Val)
NM_000321.3(RB1):c.913C>T (p.Leu305Phe) rs1292944238
NM_000321.3(RB1):c.922T>C (p.Ser308Pro)
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>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.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.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.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.98C>T (p.Pro33Leu) rs1201977804
NM_000321.3(RB1):c.990T>A (p.Asp330Glu) rs2138121244
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)

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