NM_000321.3(RB1):c.1981C>T (p.Arg661Trp)
|
rs137853294
|
0.00002
|
NM_000321.3(RB1):c.1363C>T (p.Arg455Ter)
|
rs121913302
|
0.00001
|
NM_000321.3(RB1):c.2536C>T (p.Gln846Ter)
|
rs1231557654
|
0.00001
|
NC_000013.10:g.(?_48877837)_(48881552_?)del
|
|
|
NC_000013.10:g.(?_48878039)_(48919345_?)del
|
|
|
NC_000013.10:g.(?_48881406)_(48955589_?)dup
|
|
|
NC_000013.10:g.(?_48916725)_(48922009_?)del
|
|
|
NC_000013.10:g.(?_48916729)_(48942746_?)dup
|
|
|
NC_000013.10:g.(?_48919196)_(48955599_?)del
|
|
|
NC_000013.10:g.(?_48919206)_(48923169_?)del
|
|
|
NC_000013.10:g.(?_48937921)_(48942750_?)del
|
|
|
NC_000013.10:g.(?_48947531)_(48947691_?)del
|
|
|
NC_000013.10:g.(?_48947531)_(48955589_?)del
|
|
|
NC_000013.10:g.(?_48951044)_(48955589_?)del
|
|
|
NC_000013.10:g.(?_48953730)_(48954377_?)del
|
|
|
NC_000013.10:g.(?_48954189)_(48954377_?)del
|
|
|
NC_000013.10:g.(?_49027115)_(49054207_?)del
|
|
|
NC_000013.10:g.(?_49039232)_(49040694_?)del
|
|
|
NC_000013.10:g.(?_49046098)_(49047536_?)del
|
|
|
NC_000013.10:g.(?_49046098)_(49054207_?)del
|
|
|
NC_000013.11:g.(?_48303701)_(48304059_?)del
|
|
|
NC_000013.11:g.(?_48307270)_(48349033_?)del
|
|
|
NC_000013.11:g.(?_48307274)_(48349029_?)del
|
|
|
NC_000013.11:g.(?_48342589)_(48345209_?)del
|
|
|
NC_000013.11:g.(?_48342589)_(48368614_?)del
|
|
|
NC_000013.11:g.(?_48342599)_(48345199_?)del
|
|
|
NC_000013.11:g.(?_48345070)_(48345209_?)del
|
|
|
NC_000013.11:g.(?_48345074)_(48345205_?)del
|
|
|
NC_000013.11:g.(?_48360007)_(48368614_?)del
|
|
|
NC_000013.11:g.(?_48376908)_(48380094_?)del
|
|
|
NC_000013.11:g.(?_48452983)_(48480081_?)del
|
|
|
NC_000013.11:g.(?_48459678)_(48459843_?)del
|
|
|
NC_000013.11:g.(?_48464992)_(48465374_?)del
|
|
|
NC_000013.11:g.(?_48476691)_(48477414_?)del
|
|
|
NC_000013.11:g.48360019del
|
|
|
NC_000013.11:g.48464999_48465023del
|
rs2138344503
|
|
NG_009009.1:g.154289dupA
|
rs1566233014
|
|
NG_009009.1:g.5168-?_5303+?(2)
|
|
|
NM_000321.2(RB1):c.-189G>T
|
rs387906520
|
|
NM_000321.2(RB1):c.-198G>A
|
rs387906521
|
|
NM_000321.2(RB1):c.2450_2453delinsTTT (p.Glu817fs)
|
rs1555294626
|
|
NM_000321.3(RB1):c.1005del (p.Leu335fs)
|
|
|
NM_000321.3(RB1):c.100G>T (p.Glu34Ter)
|
rs2138027798
|
|
NM_000321.3(RB1):c.1021A>T (p.Lys341Ter)
|
rs587778855
|
|
NM_000321.3(RB1):c.1024del (p.Thr342fs)
|
rs587778844
|
|
NM_000321.3(RB1):c.1031_1034del (p.Gln344fs)
|
rs2138121452
|
|
NM_000321.3(RB1):c.1039dup (p.Ser347fs)
|
|
|
NM_000321.3(RB1):c.103C>T (p.Gln35Ter)
|
rs587778869
|
|
NM_000321.3(RB1):c.1049+1G>A
|
rs587776782
|
|
NM_000321.3(RB1):c.1049+1G>T
|
rs587776782
|
|
NM_000321.3(RB1):c.1049+2T>A
|
rs41287453
|
|
NM_000321.3(RB1):c.1049+3A>G
|
rs1566194415
|
|
NM_000321.3(RB1):c.1050-8_1050-2del
|
rs2138123098
|
|
NM_000321.3(RB1):c.1053del (p.Phe351fs)
|
rs1952726441
|
|
NM_000321.3(RB1):c.1054del (p.Glu352fs)
|
rs1952726482
|
|
NM_000321.3(RB1):c.1060_1061del (p.Gln354fs)
|
rs587778829
|
|
NM_000321.3(RB1):c.1072C>T (p.Arg358Ter)
|
rs121913301
|
|
NM_000321.3(RB1):c.109dup (p.Ser37fs)
|
|
|
NM_000321.3(RB1):c.110_122del (p.Ser37fs)
|
|
|
NM_000321.3(RB1):c.1128-1G>A
|
rs2138130852
|
|
NM_000321.3(RB1):c.1128-2A>T
|
|
|
NM_000321.3(RB1):c.1131del (p.Val378fs)
|
|
|
NM_000321.3(RB1):c.113_115delinsCT (p.Gly38fs)
|
rs886037649
|
|
NM_000321.3(RB1):c.1147dup (p.Gln383fs)
|
rs587778830
|
|
NM_000321.3(RB1):c.1154T>G (p.Leu385Ter)
|
rs878853947
|
|
NM_000321.3(RB1):c.1166T>A (p.Leu389Ter)
|
rs587778845
|
|
NM_000321.3(RB1):c.1166dup (p.Leu389fs)
|
rs2138131106
|
|
NM_000321.3(RB1):c.1183C>T (p.Gln395Ter)
|
rs1566196458
|
|
NM_000321.3(RB1):c.118G>T (p.Glu40Ter)
|
rs1593412262
|
|
NM_000321.3(RB1):c.1190C>A (p.Ser397Ter)
|
|
|
NM_000321.3(RB1):c.1191del (p.Glu398fs)
|
rs727504121
|
|
NM_000321.3(RB1):c.1215+1G>A
|
rs587776783
|
|
NM_000321.3(RB1):c.1215+2T>A
|
|
|
NM_000321.3(RB1):c.1215+2T>C
|
rs1060503074
|
|
NM_000321.3(RB1):c.1215+2T>G
|
rs1060503074
|
|
NM_000321.3(RB1):c.1216-1G>A
|
rs587778831
|
|
NM_000321.3(RB1):c.1216-2A>G
|
rs1593453973
|
|
NM_000321.3(RB1):c.1237G>T (p.Glu413Ter)
|
rs2138136261
|
|
NM_000321.3(RB1):c.1239_1240del (p.Ser414fs)
|
rs1555286220
|
|
NM_000321.3(RB1):c.1247del (p.Leu416fs)
|
rs2138136325
|
|
NM_000321.3(RB1):c.1257del (p.Lys420fs)
|
rs1952831606
|
|
NM_000321.3(RB1):c.1275_1279dup (p.Lys427fs)
|
rs1952831740
|
|
NM_000321.3(RB1):c.1278_1279insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGCGGCGGGGCCGGCGGAAGAAGGCGGTGGCGGGGCCCTGCCCCGCTCCGGCTGTGGCGCGGCCCGCGCCCGTTCCAGGATACATCTTT (p.Lys427delinsPhePhePhePhePhePheXaaXaaXaaXaaAlaAlaGlyProAlaGluGluGlyGlyGlyGlyAlaLeuProArgSerGlyCysGlyAlaAlaArgAlaArgSerArgIleHisLeuTer)
|
|
|
NM_000321.3(RB1):c.1278dup (p.Lys427Ter)
|
rs1555286236
|
|
NM_000321.3(RB1):c.1281del (p.Glu428fs)
|
rs2138136497
|
|
NM_000321.3(RB1):c.1294A>T (p.Lys432Ter)
|
rs1566197747
|
|
NM_000321.3(RB1):c.131_132del (p.Leu44fs)
|
|
|
NM_000321.3(RB1):c.1328C>A (p.Ser443Ter)
|
rs1060503079
|
|
NM_000321.3(RB1):c.1331_1332dup (p.Arg445fs)
|
rs1593454115
|
|
NM_000321.3(RB1):c.1332+1G>A
|
rs587778846
|
|
NM_000321.3(RB1):c.1332+1G>T
|
rs587778846
|
|
NM_000321.3(RB1):c.1332G>A (p.Gln444=)
|
rs1555286250
|
|
NM_000321.3(RB1):c.1332G>C (p.Gln444His)
|
rs1555286250
|
|
NM_000321.3(RB1):c.1333-1G>A
|
rs2138140730
|
|
NM_000321.3(RB1):c.1333-1G>C
|
rs2138140730
|
|
NM_000321.3(RB1):c.1333-2A>G
|
rs1555286503
|
|
NM_000321.3(RB1):c.1333C>T (p.Arg445Ter)
|
rs3092891
|
|
NM_000321.3(RB1):c.1338C>A (p.Tyr446Ter)
|
rs1593455621
|
|
NM_000321.3(RB1):c.1339A>T (p.Lys447Ter)
|
|
|
NM_000321.3(RB1):c.1341del (p.Lys447fs)
|
|
|
NM_000321.3(RB1):c.1345G>A (p.Gly449Arg)
|
rs1131690851
|
|
NM_000321.3(RB1):c.1346G>A (p.Gly449Glu)
|
|
|
NM_000321.3(RB1):c.1346G>T (p.Gly449Val)
|
rs587778847
|
|
NM_000321.3(RB1):c.1346dup (p.Val450fs)
|
rs1948513922
|
|
NM_000321.3(RB1):c.1355T>A (p.Leu452Ter)
|
|
|
NM_000321.3(RB1):c.1355dup (p.Leu452fs)
|
|
|
NM_000321.3(RB1):c.1360del (p.Tyr454fs)
|
rs2138140923
|
|
NM_000321.3(RB1):c.136del (p.Arg46fs)
|
|
|
NM_000321.3(RB1):c.137+1G>A
|
rs1131690855
|
|
NM_000321.3(RB1):c.137+2T>G
|
|
|
NM_000321.3(RB1):c.1372G>T (p.Glu458Ter)
|
rs1131690884
|
|
NM_000321.3(RB1):c.138-1G>A
|
rs1593414337
|
|
NM_000321.3(RB1):c.138-2A>G
|
|
|
NM_000321.3(RB1):c.1389+1G>C
|
rs1060503087
|
|
NM_000321.3(RB1):c.1389+1G>T
|
rs1060503087
|
|
NM_000321.3(RB1):c.1389+2T>A
|
|
|
NM_000321.3(RB1):c.1390-14A>G
|
rs9535023
|
|
NM_000321.3(RB1):c.1390-2A>C
|
rs1555286568
|
|
NM_000321.3(RB1):c.1390-2A>G
|
rs1555286568
|
|
NM_000321.3(RB1):c.1392del (p.Glu465fs)
|
rs1948519774
|
|
NM_000321.3(RB1):c.1399C>T (p.Arg467Ter)
|
rs398123331
|
|
NM_000321.3(RB1):c.13del (p.Thr5fs)
|
|
|
NM_000321.3(RB1):c.1419del (p.Phe473fs)
|
rs1555286573
|
|
NM_000321.3(RB1):c.1421+12_1421+32del
|
rs587781256
|
|
NM_000321.3(RB1):c.1421+12_1456del
|
rs2138142421
|
|
NM_000321.3(RB1):c.1421+1G>C
|
rs1131690886
|
|
NM_000321.3(RB1):c.1421_1421+9delinsCTTTTAGTAAAAAATTTACTTTTAGTAAAATTTTACTTTTAGTAAAATTTTAGTAAAAATTTACTTTTAGTAAAAAA
|
|
|
NM_000321.3(RB1):c.1422-1G>A
|
rs1461382798
|
|
NM_000321.3(RB1):c.1422-2A>G
|
rs1395304450
|
|
NM_000321.3(RB1):c.1423A>T (p.Lys475Ter)
|
|
|
NM_000321.3(RB1):c.142G>T (p.Glu48Ter)
|
|
|
NM_000321.3(RB1):c.1436ACA[1] (p.Asn480del)
|
rs587776788
|
|
NM_000321.3(RB1):c.1445_1446del (p.Phe482fs)
|
rs1566199059
|
|
NM_000321.3(RB1):c.1450_1451del (p.Met484fs)
|
rs1948522792
|
|
NM_000321.3(RB1):c.1454_1457del (p.Ser485fs)
|
rs1948522929
|
|
NM_000321.3(RB1):c.1456_1457del (p.Leu486fs)
|
rs587778832
|
|
NM_000321.3(RB1):c.1458del (p.Leu486fs)
|
rs1555286611
|
|
NM_000321.3(RB1):c.1472T>C (p.Leu491Pro)
|
rs587778848
|
|
NM_000321.3(RB1):c.1493_1498+86del
|
rs2138143170
|
|
NM_000321.3(RB1):c.1494T>G (p.Tyr498Ter)
|
rs768929728
|
|
NM_000321.3(RB1):c.1498+2T>G
|
rs1948523741
|
|
NM_000321.3(RB1):c.1498+5G>A
|
rs1566199125
|
|
NM_000321.3(RB1):c.1499-1G>T
|
|
|
NM_000321.3(RB1):c.1499-2A>C
|
rs1258442224
|
|
NM_000321.3(RB1):c.1510C>T (p.Gln504Ter)
|
rs886043247
|
|
NM_000321.3(RB1):c.1510del (p.Gln504fs)
|
rs2138144870
|
|
NM_000321.3(RB1):c.1512_1513del (p.Asn505fs)
|
rs1593456963
|
|
NM_000321.3(RB1):c.1519_1523dup (p.Gly509fs)
|
rs2138144919
|
|
NM_000321.3(RB1):c.1524del (p.Gly509fs)
|
|
|
NM_000321.3(RB1):c.1532dup (p.Asp511fs)
|
rs2138144988
|
|
NM_000321.3(RB1):c.1554_1561del (p.Leu518_Asn519insTer)
|
|
|
NM_000321.3(RB1):c.1567_1568dup (p.Leu523fs)
|
rs1948533760
|
|
NM_000321.3(RB1):c.1568T>A (p.Leu523Ter)
|
rs2138145156
|
|
NM_000321.3(RB1):c.1568T>G (p.Leu523Ter)
|
|
|
NM_000321.3(RB1):c.1572del (p.Ala525fs)
|
rs2138145163
|
|
NM_000321.3(RB1):c.1572dup (p.Ala525fs)
|
|
|
NM_000321.3(RB1):c.157_158del (p.Glu53fs)
|
|
|
NM_000321.3(RB1):c.1584_1585insCACTT (p.Tyr529fs)
|
rs1948533963
|
|
NM_000321.3(RB1):c.1587C>A (p.Tyr529Ter)
|
|
|
NM_000321.3(RB1):c.1593del (p.Ile532fs)
|
rs2138145303
|
|
NM_000321.3(RB1):c.1597G>T (p.Glu533Ter)
|
rs1237070816
|
|
NM_000321.3(RB1):c.160G>T (p.Glu54Ter)
|
|
|
NM_000321.3(RB1):c.1625T>A (p.Leu542Ter)
|
rs1593457065
|
|
NM_000321.3(RB1):c.1629_1630del (p.Glu545fs)
|
rs1593457070
|
|
NM_000321.3(RB1):c.1633G>T (p.Glu545Ter)
|
rs1948534542
|
|
NM_000321.3(RB1):c.1633_1640del (p.Glu545fs)
|
rs1555286695
|
|
NM_000321.3(RB1):c.1635_1636del (p.Glu545fs)
|
|
|
NM_000321.3(RB1):c.1654C>T (p.Arg552Ter)
|
rs121913303
|
|
NM_000321.3(RB1):c.1659T>A (p.Cys553Ter)
|
rs1593457108
|
|
NM_000321.3(RB1):c.1666C>T (p.Arg556Ter)
|
rs121913304
|
|
NM_000321.3(RB1):c.1673_1674dup (p.Glu559fs)
|
rs1555286707
|
|
NM_000321.3(RB1):c.1675del (p.Glu559fs)
|
rs2138145739
|
|
NM_000321.3(RB1):c.1686dup (p.Trp563fs)
|
rs1593457156
|
|
NM_000321.3(RB1):c.1688G>A (p.Trp563Ter)
|
rs587778863
|
|
NM_000321.3(RB1):c.1695+1G>A
|
rs587778857
|
|
NM_000321.3(RB1):c.1695+1G>T
|
|
|
NM_000321.3(RB1):c.1695+2T>G
|
rs2138145859
|
|
NM_000321.3(RB1):c.1696-12T>G
|
rs1060503088
|
|
NM_000321.3(RB1):c.1696-1G>A
|
rs794727199
|
|
NM_000321.3(RB1):c.1700C>G (p.Ser567Ter)
|
|
|
NM_000321.3(RB1):c.1700C>T (p.Ser567Leu)
|
rs137853292
|
|
NM_000321.3(RB1):c.1706del (p.Leu569fs)
|
rs1131690842
|
|
NM_000321.3(RB1):c.1723C>T (p.Gln575Ter)
|
rs587778864
|
|
NM_000321.3(RB1):c.1735C>T (p.Arg579Ter)
|
rs121913305
|
|
NM_000321.3(RB1):c.1738G>T (p.Glu580Ter)
|
rs587778858
|
|
NM_000321.3(RB1):c.1743dup (p.Pro582fs)
|
rs2138327123
|
|
NM_000321.3(RB1):c.174dup (p.Ala59fs)
|
rs2138034025
|
|
NM_000321.3(RB1):c.1754_1755dup (p.Leu586fs)
|
rs2138327168
|
|
NM_000321.3(RB1):c.1760_1769del (p.Glu587fs)
|
rs587776784
|
|
NM_000321.3(RB1):c.1770del (p.Pro591fs)
|
rs1949338513
|
|
NM_000321.3(RB1):c.1778dup (p.Asn593fs)
|
|
|
NM_000321.3(RB1):c.1789C>T (p.Gln597Ter)
|
rs1566233076
|
|
NM_000321.3(RB1):c.179T>G (p.Leu60Ter)
|
|
|
NM_000321.3(RB1):c.1814+3A>C
|
rs376886420
|
|
NM_000321.3(RB1):c.1818T>A (p.Tyr606Ter)
|
rs137853297
|
|
NM_000321.3(RB1):c.184C>T (p.Gln62Ter)
|
rs2138034088
|
|
NM_000321.3(RB1):c.1887_1888del (p.Glu629fs)
|
rs2138331297
|
|
NM_000321.3(RB1):c.1890_1893del (p.Ala632fs)
|
rs2138331328
|
|
NM_000321.3(RB1):c.1891C>T (p.Gln631Ter)
|
rs1217977493
|
|
NM_000321.3(RB1):c.1891_1892del (p.Gln631fs)
|
|
|
NM_000321.3(RB1):c.1901C>G (p.Ser634Ter)
|
rs1949359603
|
|
NM_000321.3(RB1):c.1907del (p.Phe636fs)
|
rs587781257
|
|
NM_000321.3(RB1):c.1909C>T (p.Gln637Ter)
|
rs587778833
|
|
NM_000321.3(RB1):c.1915C>T (p.Gln639Ter)
|
rs1949359779
|
|
NM_000321.3(RB1):c.1916dup (p.Lys640fs)
|
rs2138331459
|
|
NM_000321.3(RB1):c.191T>G (p.Leu64Ter)
|
rs2138034131
|
|
NM_000321.3(RB1):c.1925T>A (p.Leu642Ter)
|
rs587778865
|
|
NM_000321.3(RB1):c.1927A>G (p.Lys643Glu)
|
rs587778866
|
|
NM_000321.3(RB1):c.1928_1929dup (p.Ser644fs)
|
|
|
NM_000321.3(RB1):c.1937_1940del (p.Ser646fs)
|
rs2138331562
|
|
NM_000321.3(RB1):c.1940_1943del (p.Leu647fs)
|
rs2138331576
|
|
NM_000321.3(RB1):c.1943C>G (p.Ser648Ter)
|
|
|
NM_000321.3(RB1):c.1949_1957del (p.Phe650_Lys653delinsTer)
|
rs587776785
|
|
NM_000321.3(RB1):c.1950_1953del (p.Phe650fs)
|
rs1593532084
|
|
NM_000321.3(RB1):c.1959del (p.Val654fs)
|
|
|
NM_000321.3(RB1):c.1959dup (p.Val654fs)
|
rs1566234123
|
|
NM_000321.3(RB1):c.1960+1316_2107-767del
|
|
|
NM_000321.3(RB1):c.1960+1G>A
|
rs1949360306
|
|
NM_000321.3(RB1):c.1960+1G>C
|
rs1949360306
|
|
NM_000321.3(RB1):c.1960+1G>T
|
rs1949360306
|
|
NM_000321.3(RB1):c.1960+2T>A
|
|
|
NM_000321.3(RB1):c.1960+2T>C
|
rs587776780
|
|
NM_000321.3(RB1):c.1960+2T>G
|
rs587776780
|
|
NM_000321.3(RB1):c.1960+5G>A
|
rs587778871
|
|
NM_000321.3(RB1):c.1960+5G>C
|
rs587778871
|
|
NM_000321.3(RB1):c.1960G>A (p.Val654Met)
|
rs483352690
|
|
NM_000321.3(RB1):c.1960G>C (p.Val654Leu)
|
rs483352690
|
|
NM_000321.3(RB1):c.1960_1960+1insC
|
rs1593532101
|
|
NM_000321.3(RB1):c.1961-17_1965del
|
|
|
NM_000321.3(RB1):c.1961-1G>T
|
rs1949383286
|
|
NM_000321.3(RB1):c.1961-293_1987del
|
|
|
NM_000321.3(RB1):c.1961-2A>G
|
|
|
NM_000321.3(RB1):c.1961-2A>T
|
rs587778867
|
|
NM_000321.3(RB1):c.1973C>A (p.Ala658Asp)
|
rs587778834
|
|
NM_000321.3(RB1):c.1978_1996del (p.Leu660fs)
|
rs1593534586
|
|
NM_000321.3(RB1):c.19del (p.Arg7fs)
|
rs1131690852
|
|
NM_000321.3(RB1):c.19dup (p.Arg7fs)
|
rs1131690852
|
|
NM_000321.3(RB1):c.2013dup (p.Glu672Ter)
|
rs2138336089
|
|
NM_000321.3(RB1):c.2023G>T (p.Glu675Ter)
|
rs137853295
|
|
NM_000321.3(RB1):c.2027T>A (p.Leu676Ter)
|
rs1566235448
|
|
NM_000321.3(RB1):c.2027T>G (p.Leu676Ter)
|
rs1566235448
|
|
NM_000321.3(RB1):c.2029G>T (p.Glu677Ter)
|
rs1060503067
|
|
NM_000321.3(RB1):c.2034dup (p.Ile679fs)
|
rs2138336180
|
|
NM_000321.3(RB1):c.2035_2038dup (p.Ile680fs)
|
rs1949384403
|
|
NM_000321.3(RB1):c.2042G>A (p.Trp681Ter)
|
|
|
NM_000321.3(RB1):c.2053C>T (p.Gln685Ter)
|
rs878853949
|
|
NM_000321.3(RB1):c.2059_2066dup (p.Asn690fs)
|
|
|
NM_000321.3(RB1):c.2065C>T (p.Gln689Ter)
|
rs1566235470
|
|
NM_000321.3(RB1):c.2099dup (p.Leu700fs)
|
|
|
NM_000321.3(RB1):c.2101G>A (p.Asp701Asn)
|
rs587778859
|
|
NM_000321.3(RB1):c.2106+1G>A
|
rs1949385207
|
|
NM_000321.3(RB1):c.2106+1G>C
|
rs1949385207
|
|
NM_000321.3(RB1):c.2106+2T>A
|
rs1566235515
|
|
NM_000321.3(RB1):c.2106+2T>C
|
rs1566235515
|
|
NM_000321.3(RB1):c.2107-1G>C
|
rs587778860
|
|
NM_000321.3(RB1):c.2107-2A>G
|
rs1593538130
|
|
NM_000321.3(RB1):c.2117G>A (p.Cys706Tyr)
|
|
|
NM_000321.3(RB1):c.2125_2135dup (p.Lys713fs)
|
rs2138342284
|
|
NM_000321.3(RB1):c.2131dup (p.Ile711fs)
|
rs1593538155
|
|
NM_000321.3(RB1):c.2134T>C (p.Cys712Arg)
|
rs137853296
|
|
NM_000321.3(RB1):c.2138_2139del (p.Lys713fs)
|
|
|
NM_000321.3(RB1):c.2152del (p.Asp718fs)
|
|
|
NM_000321.3(RB1):c.2160_2167delinsC (p.Lys720fs)
|
rs1593538175
|
|
NM_000321.3(RB1):c.2164A>T (p.Lys722Ter)
|
rs587778849
|
|
NM_000321.3(RB1):c.2172dup (p.Val725fs)
|
rs1566237098
|
|
NM_000321.3(RB1):c.2173_2174dup (p.Val725_Thr726insTer)
|
rs2138342499
|
|
NM_000321.3(RB1):c.217_220del (p.Arg73fs)
|
|
|
NM_000321.3(RB1):c.217del (p.Arg73fs)
|
rs587778840
|
|
NM_000321.3(RB1):c.2188_2189insTT (p.Asp730fs)
|
|
|
NM_000321.3(RB1):c.2194_2197del (p.Pro732fs)
|
rs1060503075
|
|
NM_000321.3(RB1):c.2197C>T (p.His733Tyr)
|
rs587778835
|
|
NM_000321.3(RB1):c.219_220del (p.Arg73fs)
|
rs587778862
|
|
NM_000321.3(RB1):c.21_22insT (p.Lys8Ter)
|
|
|
NM_000321.3(RB1):c.2206C>T (p.Gln736Ter)
|
rs1593538220
|
|
NM_000321.3(RB1):c.2209G>T (p.Glu737Ter)
|
rs587778868
|
|
NM_000321.3(RB1):c.220del (p.Ala74fs)
|
|
|
NM_000321.3(RB1):c.2211+1G>A
|
rs1949420231
|
|
NM_000321.3(RB1):c.2211+1G>T
|
rs1949420231
|
|
NM_000321.3(RB1):c.2211+2T>C
|
rs2138342748
|
|
NM_000321.3(RB1):c.2211+5G>A
|
rs1593538236
|
|
NM_000321.3(RB1):c.2211G>A (p.Glu737=)
|
rs587776787
|
|
NM_000321.3(RB1):c.2211G>T (p.Glu737Asp)
|
rs587776787
|
|
NM_000321.3(RB1):c.2212-13T>A
|
rs2138344431
|
|
NM_000321.3(RB1):c.2212-14C>G
|
|
|
NM_000321.3(RB1):c.2212-1G>A
|
rs587776786
|
|
NM_000321.3(RB1):c.2212-1G>C
|
rs587776786
|
|
NM_000321.3(RB1):c.2228_2231dup (p.Lys745fs)
|
rs587778836
|
|
NM_000321.3(RB1):c.2236G>T (p.Glu746Ter)
|
rs958914211
|
|
NM_000321.3(RB1):c.2237_2241del (p.Glu746fs)
|
rs2138344622
|
|
NM_000321.3(RB1):c.2238del (p.Glu747fs)
|
rs1949430414
|
|
NM_000321.3(RB1):c.2242G>T (p.Glu748Ter)
|
rs121913297
|
|
NM_000321.3(RB1):c.2244del (p.Glu748fs)
|
rs587776781
|
|
NM_000321.3(RB1):c.2246_2247del (p.Glu748_Tyr749insTer)
|
rs1949430616
|
|
NM_000321.3(RB1):c.2247T>A (p.Tyr749Ter)
|
rs587778861
|
|
NM_000321.3(RB1):c.2247_2248insAA (p.Asp750fs)
|
rs1555294600
|
|
NM_000321.3(RB1):c.227_228dup (p.Thr77Ter)
|
rs587778824
|
|
NM_000321.3(RB1):c.2280del (p.Phe760fs)
|
rs2138344869
|
|
NM_000321.3(RB1):c.2284C>T (p.Gln762Ter)
|
rs1593539225
|
|
NM_000321.3(RB1):c.2293A>T (p.Lys765Ter)
|
rs2138344925
|
|
NM_000321.3(RB1):c.229_232del (p.Thr77fs)
|
rs2138034389
|
|
NM_000321.3(RB1):c.2308C>T (p.Gln770Ter)
|
rs2138344987
|
|
NM_000321.3(RB1):c.2325+1G>A
|
rs1131690882
|
|
NM_000321.3(RB1):c.2325+1G>C
|
rs1131690882
|
|
NM_000321.3(RB1):c.2325+1G>T
|
rs1131690882
|
|
NM_000321.3(RB1):c.2325+2T>A
|
rs2138345077
|
|
NM_000321.3(RB1):c.2326-1G>A
|
|
|
NM_000321.3(RB1):c.2326-2A>G
|
rs1949432057
|
|
NM_000321.3(RB1):c.2339C>G (p.Ser780Ter)
|
rs1593539366
|
|
NM_000321.3(RB1):c.234G>A (p.Trp78Ter)
|
rs2138034427
|
|
NM_000321.3(RB1):c.2359C>T (p.Arg787Ter)
|
rs137853293
|
|
NM_000321.3(RB1):c.2363_2384dup (p.Leu797_Arg798insGlnValSerTerProLeu)
|
rs1593539386
|
|
NM_000321.3(RB1):c.2370C>G (p.Tyr790Ter)
|
rs794727372
|
|
NM_000321.3(RB1):c.2370_2372del (p.Tyr790_Lys791delinsTer)
|
rs2138345650
|
|
NM_000321.3(RB1):c.2371_2372insGTGT (p.Lys791fs)
|
rs2138345665
|
|
NM_000321.3(RB1):c.2384_2390del (p.Ser795fs)
|
rs2138345718
|
|
NM_000321.3(RB1):c.2388del (p.Leu797fs)
|
rs869264218
|
|
NM_000321.3(RB1):c.2401G>T (p.Gly801Ter)
|
|
|
NM_000321.3(RB1):c.2405_2414del (p.Gly802fs)
|
rs1593539435
|
|
NM_000321.3(RB1):c.2408del (p.Asn803fs)
|
rs1949433098
|
|
NM_000321.3(RB1):c.240del (p.Val81fs)
|
|
|
NM_000321.3(RB1):c.2420C>G (p.Ser807Ter)
|
rs2138345919
|
|
NM_000321.3(RB1):c.2428A>T (p.Lys810Ter)
|
rs1949433250
|
|
NM_000321.3(RB1):c.2429_2432dup (p.Ser811fs)
|
rs2138345982
|
|
NM_000321.3(RB1):c.2435del (p.Pro812fs)
|
rs1949433358
|
|
NM_000321.3(RB1):c.2447C>A (p.Ser816Ter)
|
rs1593539493
|
|
NM_000321.3(RB1):c.2447C>G (p.Ser816Ter)
|
|
|
NM_000321.3(RB1):c.2453del (p.Gly818fs)
|
rs587778837
|
|
NM_000321.3(RB1):c.245C>A (p.Ser82Ter)
|
rs755704180
|
|
NM_000321.3(RB1):c.245C>G (p.Ser82Ter)
|
|
|
NM_000321.3(RB1):c.2473dup (p.Met825fs)
|
rs1593539538
|
|
NM_000321.3(RB1):c.2489+1G>A
|
rs764754259
|
|
NM_000321.3(RB1):c.2489+2T>C
|
rs1555294636
|
|
NM_000321.3(RB1):c.2490-1398A>G
|
rs587776791
|
|
NM_000321.3(RB1):c.2490-1G>A
|
rs587778838
|
|
NM_000321.3(RB1):c.2490-1_2490del
|
rs1593544647
|
|
NM_000321.3(RB1):c.24_61del (p.Lys8fs)
|
|
|
NM_000321.3(RB1):c.2501C>A (p.Ser834Ter)
|
rs1131690906
|
|
NM_000321.3(RB1):c.2513C>G (p.Ser838Ter)
|
rs1131690908
|
|
NM_000321.3(RB1):c.2520+1G>A
|
rs587778850
|
|
NM_000321.3(RB1):c.2520+1G>T
|
rs587778850
|
|
NM_000321.3(RB1):c.2520+1del
|
rs587776779
|
|
NM_000321.3(RB1):c.2520+3_2520+6del
|
rs1131690858
|
|
NM_000321.3(RB1):c.2520+5G>A
|
rs1131690881
|
|
NM_000321.3(RB1):c.2520+5G>C
|
rs1131690881
|
|
NM_000321.3(RB1):c.2520+5G>T
|
rs1131690881
|
|
NM_000321.3(RB1):c.2525_2526del (p.Thr841_Ser842insTer)
|
rs1566240909
|
|
NM_000321.3(RB1):c.2525dup (p.Ser842_Glu843insTer)
|
rs587778851
|
|
NM_000321.3(RB1):c.2593G>T (p.Gly865Ter)
|
rs1949506548
|
|
NM_000321.3(RB1):c.264+1G>A
|
rs1131690907
|
|
NM_000321.3(RB1):c.264+1G>C
|
|
|
NM_000321.3(RB1):c.264+1G>T
|
rs1131690907
|
|
NM_000321.3(RB1):c.2663+1G>A
|
rs2138359672
|
|
NM_000321.3(RB1):c.2663+1G>T
|
rs2138359672
|
|
NM_000321.3(RB1):c.2663+2T>C
|
rs587778839
|
|
NM_000321.3(RB1):c.2663G>A (p.Ser888Asn)
|
rs1555295354
|
|
NM_000321.3(RB1):c.272_276del (p.Tyr91fs)
|
rs1593434175
|
|
NM_000321.3(RB1):c.283A>T (p.Lys95Ter)
|
rs1555282775
|
|
NM_000321.3(RB1):c.287dup (p.Glu97fs)
|
|
|
NM_000321.3(RB1):c.295_296dup (p.Trp99fs)
|
rs1952455844
|
|
NM_000321.3(RB1):c.297G>A (p.Trp99Ter)
|
rs794727481
|
|
NM_000321.3(RB1):c.297_298insA (p.Gly100fs)
|
rs1566186087
|
|
NM_000321.3(RB1):c.305_306del (p.Cys102fs)
|
rs587778825
|
|
NM_000321.3(RB1):c.306dup (p.Ile103fs)
|
|
|
NM_000321.3(RB1):c.309_312del (p.Phe104fs)
|
rs1952456105
|
|
NM_000321.3(RB1):c.32_63del (p.Ala11fs)
|
rs1593411974
|
|
NM_000321.3(RB1):c.34_71del (p.Thr12fs)
|
rs2138027150
|
|
NM_000321.3(RB1):c.36del (p.Ala13fs)
|
rs1566174065
|
|
NM_000321.3(RB1):c.371_372del (p.Ile124fs)
|
rs1566186125
|
|
NM_000321.3(RB1):c.376del (p.Ile126fs)
|
rs886042357
|
|
NM_000321.3(RB1):c.377del (p.Ile126fs)
|
rs2138084130
|
|
NM_000321.3(RB1):c.37_65del (p.Ala13fs)
|
rs1064792974
|
|
NM_000321.3(RB1):c.380+1G>A
|
rs1131690902
|
|
NM_000321.3(RB1):c.380+2T>G
|
|
|
NM_000321.3(RB1):c.380+3A>T
|
rs1555282811
|
|
NM_000321.3(RB1):c.381-1G>A
|
rs1566186836
|
|
NM_000321.3(RB1):c.381-2A>G
|
rs1952480014
|
|
NM_000321.3(RB1):c.388A>T (p.Lys130Ter)
|
rs1566186840
|
|
NM_000321.3(RB1):c.390del (p.Lys130fs)
|
rs2138087163
|
|
NM_000321.3(RB1):c.399del (p.Leu134fs)
|
rs2138087235
|
|
NM_000321.3(RB1):c.409G>T (p.Glu137Ter)
|
rs121913296
|
|
NM_000321.3(RB1):c.417del (p.Asp139fs)
|
rs2138087348
|
|
NM_000321.3(RB1):c.428_437del (p.Lys143fs)
|
|
|
NM_000321.3(RB1):c.438_441del (p.Asn146fs)
|
rs587778841
|
|
NM_000321.3(RB1):c.43_65dup (p.Pro23fs)
|
rs587776790
|
|
NM_000321.3(RB1):c.43_80del (p.Ala15fs)
|
rs2138027218
|
|
NM_000321.3(RB1):c.43_80dup (p.Pro28fs)
|
|
|
NM_000321.3(RB1):c.446C>G (p.Ser149Ter)
|
rs587778870
|
|
NM_000321.3(RB1):c.453del (p.Leu151_Leu152insTer)
|
rs2138087597
|
|
NM_000321.3(RB1):c.459del (p.Lys154fs)
|
rs2138087628
|
|
NM_000321.3(RB1):c.45_70dup (p.Pro24fs)
|
rs1566174074
|
|
NM_000321.3(RB1):c.45_76del (p.Ala17fs)
|
rs1593412002
|
|
NM_000321.3(RB1):c.45_79del (p.Ala16fs)
|
rs2138027212
|
|
NM_000321.3(RB1):c.463dup (p.Tyr155fs)
|
rs587778854
|
|
NM_000321.3(RB1):c.465_468dup (p.Val157Ter)
|
rs1566186889
|
|
NM_000321.3(RB1):c.46_61GCC[2]GCGGAACCCCAGGCACCGCCGCCGCCGCCGCCGCGGAACCCC[1] (p.Pro21fs)
|
rs2138027345
|
|
NM_000321.3(RB1):c.473T>A (p.Leu158Ter)
|
rs1952481401
|
|
NM_000321.3(RB1):c.49_80dup (p.Pro29fs)
|
|
|
NM_000321.3(RB1):c.500+1G>T
|
rs1131690880
|
|
NM_000321.3(RB1):c.500+2T>C
|
rs2138087877
|
|
NM_000321.3(RB1):c.506dup (p.Cys169fs)
|
rs2138091538
|
|
NM_000321.3(RB1):c.508G>T (p.Glu170Ter)
|
rs587778826
|
|
NM_000321.3(RB1):c.510del (p.Glu170fs)
|
rs1555283482
|
|
NM_000321.3(RB1):c.517_518insTCGAT (p.Tyr173fs)
|
|
|
NM_000321.3(RB1):c.526_532del (p.Gln176fs)
|
rs1952511865
|
|
NM_000321.3(RB1):c.540-1G>A
|
|
|
NM_000321.3(RB1):c.542dup (p.Ser182fs)
|
|
|
NM_000321.3(RB1):c.54_73dup (p.Pro25fs)
|
rs1555279212
|
|
NM_000321.3(RB1):c.54_76dup (p.Pro26fs)
|
rs1555279210
|
|
NM_000321.3(RB1):c.566T>A (p.Leu189Ter)
|
rs2138093555
|
|
NM_000321.3(RB1):c.596T>A (p.Leu199Ter)
|
rs121913298
|
|
NM_000321.3(RB1):c.596del (p.Leu199fs)
|
rs2138093700
|
|
NM_000321.3(RB1):c.597_601dup (p.Ala201delinsAspTer)
|
rs1555283670
|
|
NM_000321.3(RB1):c.597del (p.Leu199fs)
|
rs2138093727
|
|
NM_000321.3(RB1):c.59_71del (p.Pro20fs)
|
rs1952053203
|
|
NM_000321.3(RB1):c.606del (p.Glu204fs)
|
rs1593438023
|
|
NM_000321.3(RB1):c.607+1G>A
|
rs587776789
|
|
NM_000321.3(RB1):c.607+1G>C
|
rs587776789
|
|
NM_000321.3(RB1):c.607+1G>T
|
rs587776789
|
|
NM_000321.3(RB1):c.607+2dup
|
rs1131690895
|
|
NM_000321.3(RB1):c.610G>T (p.Glu204Ter)
|
rs1340261233
|
|
NM_000321.3(RB1):c.619C>T (p.Gln207Ter)
|
rs2138107604
|
|
NM_000321.3(RB1):c.62dup (p.Ala22fs)
|
rs1469887040
|
|
NM_000321.3(RB1):c.644C>A (p.Ser215Ter)
|
rs768305224
|
|
NM_000321.3(RB1):c.644C>G (p.Ser215Ter)
|
|
|
NM_000321.3(RB1):c.649del (p.Gln217fs)
|
rs1593443514
|
|
NM_000321.3(RB1):c.686_689dup (p.Pro231fs)
|
|
|
NM_000321.3(RB1):c.689C>G (p.Ser230Ter)
|
|
|
NM_000321.3(RB1):c.69GCC[3] (p.Pro29del)
|
rs587778823
|
|
NM_000321.3(RB1):c.709G>T (p.Glu237Ter)
|
rs1131690904
|
|
NM_000321.3(RB1):c.726dup (p.Val243fs)
|
rs1593445096
|
|
NM_000321.3(RB1):c.751C>T (p.Arg251Ter)
|
rs1131690863
|
|
NM_000321.3(RB1):c.763C>T (p.Arg255Ter)
|
rs587778842
|
|
NM_000321.3(RB1):c.768dup (p.Gln257fs)
|
rs2138112354
|
|
NM_000321.3(RB1):c.771_772del (p.Asn258fs)
|
|
|
NM_000321.3(RB1):c.772_776del (p.Asn258fs)
|
rs1566192530
|
|
NM_000321.3(RB1):c.787del (p.Arg262_Ile263insTer)
|
rs2138112461
|
|
NM_000321.3(RB1):c.795del (p.Lys265fs)
|
rs587778827
|
|
NM_000321.3(RB1):c.796C>T (p.Gln266Ter)
|
|
|
NM_000321.3(RB1):c.800del (p.Leu267fs)
|
rs1566192557
|
|
NM_000321.3(RB1):c.83del (p.Pro28fs)
|
rs1276653645
|
|
NM_000321.3(RB1):c.840dup (p.His281fs)
|
rs2138112755
|
|
NM_000321.3(RB1):c.849_856del (p.Cys283_Asp286delinsTer)
|
rs1593445220
|
|
NM_000321.3(RB1):c.856_857insTA (p.Asp286fs)
|
rs2138112865
|
|
NM_000321.3(RB1):c.857A>G (p.Asp286Gly)
|
rs1131690864
|
|
NM_000321.3(RB1):c.859G>T (p.Glu287Ter)
|
rs1593445246
|
|
NM_000321.3(RB1):c.861+1G>A
|
|
|
NM_000321.3(RB1):c.861G>A (p.Glu287=)
|
rs1555284956
|
|
NM_000321.3(RB1):c.861G>C (p.Glu287Asp)
|
rs1555284956
|
|
NM_000321.3(RB1):c.862-1G>C
|
rs2138116265
|
|
NM_000321.3(RB1):c.862-2A>G
|
|
|
NM_000321.3(RB1):c.869del (p.Asn290fs)
|
rs1131690901
|
|
NM_000321.3(RB1):c.884dup (p.Asn295fs)
|
rs587778828
|
|
NM_000321.3(RB1):c.92dup (p.Asp32fs)
|
rs1566174147
|
|
NM_000321.3(RB1):c.937G>T (p.Glu313Ter)
|
rs587778843
|
|
NM_000321.3(RB1):c.939+1G>A
|
rs2138116708
|
|
NM_000321.3(RB1):c.939+1G>C
|
rs2138116708
|
|
NM_000321.3(RB1):c.939+2T>C
|
rs1952680837
|
|
NM_000321.3(RB1):c.940-1G>A
|
rs1131690860
|
|
NM_000321.3(RB1):c.940-1G>T
|
rs1131690860
|
|
NM_000321.3(RB1):c.951_954del (p.Ser318fs)
|
rs1566194323
|
|
NM_000321.3(RB1):c.958C>T (p.Arg320Ter)
|
rs121913300
|
|
NM_000321.3(RB1):c.963C>G (p.Tyr321Ter)
|
rs377235036
|
|
NM_000321.3(RB1):c.963del (p.Arg320_Tyr321insTer)
|
rs1952715820
|
|
NM_000321.3(RB1):c.967G>T (p.Glu323Ter)
|
rs1060503077
|
|
NM_000321.3(RB1):c.979_1033dup (p.Thr345delinsLysLysTer)
|
rs1555285429
|
|
NM_000321.3(RB1):c.983del (p.Asn328fs)
|
rs2138121175
|
|
NM_000321.3(RB1):c.983dup (p.Asn328fs)
|
rs2138121175
|
|
NM_000321.3(RB1):c.98dup (p.Glu34fs)
|
rs1952054473
|
|
RB1, 5-BP DEL, EX8
|
|
|