BTK, 1-BP DEL/3-BP INS, CODON 261
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BTK, 26-BP INS, NT2019
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BTK, ALA-ASP, 1952C-A
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GRCh37/hg19 Xq22.1(chrX:100604873-100630304)x0
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NC_000023.10:g.(?_100604853)_(100609705_?)del
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NC_000023.10:g.(?_100608162)_(100615763_?)del
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NC_000023.10:g.(?_100614261)_(100615763_?)del
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NC_000023.10:g.(?_100629415)_(100630272_?)del
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NC_000023.11:g.(?_101362153)_(101362709_?)dup
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NC_000023.11:g.101353342_101353352del
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NC_000023.11:g.101353352dup
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NC_000023.11:g.101358697del
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NM_000061.3(BTK):c.-31+5G>A
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rs1131691354
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NM_000061.3(BTK):c.1001A>C (p.Tyr334Ser)
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rs128621196
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NM_000061.3(BTK):c.1004T>A (p.Val335Asp)
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rs1569292214
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NM_000061.3(BTK):c.1064T>A (p.Ile355Asn)
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rs1057517709
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NM_000061.3(BTK):c.1079_1082del (p.Asn360fs)
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rs2147429812
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NM_000061.3(BTK):c.1082A>G (p.Tyr361Cys)
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rs28935478
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NM_000061.3(BTK):c.1085A>G (p.His362Arg)
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rs2147429797
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NM_000061.3(BTK):c.1102G>T (p.Gly368Ter)
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rs2147429777
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NM_000061.3(BTK):c.1103-2A>G
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rs1603005659
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NM_000061.3(BTK):c.1103G>A (p.Gly368Glu)
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rs1057517710
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NM_000061.3(BTK):c.1106T>C (p.Leu369Pro)
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rs1926524710
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NM_000061.3(BTK):c.1116G>C (p.Arg372Ser)
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rs1555978024
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NM_000061.3(BTK):c.1116_1131dup (p.Ser378fs)
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rs2147429013
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NM_000061.3(BTK):c.1125T>G (p.Tyr375Ter)
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rs128621197
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NM_000061.3(BTK):c.1135C>T (p.Gln379Ter)
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NM_000061.3(BTK):c.1138C>T (p.Gln380Ter)
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rs1569292021
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NM_000061.3(BTK):c.1171G>T (p.Gly391Ter)
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NM_000061.3(BTK):c.1176C>A (p.Tyr392Ter)
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rs782429199
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NM_000061.3(BTK):c.1185G>A (p.Trp395Ter)
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rs1064796836
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NM_000061.3(BTK):c.119A>G (p.Tyr40Cys)
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rs1555980875
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NM_000061.3(BTK):c.1223T>C (p.Leu408Pro)
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rs128621198
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NM_000061.3(BTK):c.1249A>T (p.Lys417Ter)
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rs1926503277
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NM_000061.3(BTK):c.1257del (p.Lys420fs)
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rs2147428293
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NM_000061.3(BTK):c.1262G>A (p.Trp421Ter)
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rs1603005139
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NM_000061.3(BTK):c.126T>A (p.Tyr42Ter)
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rs2147448164
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NM_000061.3(BTK):c.1275C>A (p.Tyr425Ter)
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rs128621199
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NM_000061.3(BTK):c.1278_1291del (p.Val427fs)
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NM_000061.3(BTK):c.1288A>G (p.Lys430Glu)
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rs128620184
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NM_000061.3(BTK):c.1321G>T (p.Glu441Ter)
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rs1603005073
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NM_000061.3(BTK):c.1349+1G>A
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rs2147428155
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NM_000061.3(BTK):c.1350-1G>A
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rs1926477495
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NM_000061.3(BTK):c.1379T>A (p.Leu460Ter)
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rs2147427562
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NM_000061.3(BTK):c.1381dup (p.Tyr461fs)
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rs1926476996
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NM_000061.3(BTK):c.138dup (p.Gly47fs)
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rs2147448137
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NM_000061.3(BTK):c.1399C>T (p.Gln467Ter)
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rs2147427505
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NM_000061.3(BTK):c.141+3_141+4del
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rs864321661
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NM_000061.3(BTK):c.141+3_141+6del
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rs1555980866
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NM_000061.3(BTK):c.1420dup (p.Thr474fs)
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rs2147427470
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NM_000061.3(BTK):c.1441T>A (p.Cys481Ser)
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rs1057519826
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NM_000061.3(BTK):c.1442G>C (p.Cys481Ser)
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rs1057519825
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NM_000061.3(BTK):c.1455C>A (p.Tyr485Ter)
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rs193922124
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NM_000061.3(BTK):c.1489C>T (p.Gln497Ter)
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rs1555977811
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NM_000061.3(BTK):c.1505G>A (p.Cys502Tyr)
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rs1313261352
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NM_000061.3(BTK):c.1506C>A (p.Cys502Ter)
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rs41310709
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NM_000061.3(BTK):c.1516T>C (p.Cys506Arg)
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rs128621200
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NM_000061.3(BTK):c.1517G>A (p.Cys506Tyr)
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NM_000061.3(BTK):c.1526T>C (p.Met509Thr)
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rs1569291644
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NM_000061.3(BTK):c.1535T>C (p.Leu512Pro)
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rs2147427255
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NM_000061.3(BTK):c.1537del (p.Glu513fs)
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NM_000061.3(BTK):c.1546C>T (p.Gln516Ter)
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rs1603004481
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NM_000061.3(BTK):c.1558C>T (p.Arg520Ter)
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rs128621201
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NM_000061.3(BTK):c.1559G>A (p.Arg520Gln)
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rs128621202
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NM_000061.3(BTK):c.1567-12_1567-9del
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rs1569291244
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NM_000061.3(BTK):c.1567-2A>C
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NM_000061.3(BTK):c.1567-2A>G
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rs1555977598
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NM_000061.3(BTK):c.1567-2A>T
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rs1555977598
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NM_000061.3(BTK):c.1573C>G (p.Arg525Gly)
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rs886041149
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NM_000061.3(BTK):c.1573C>T (p.Arg525Ter)
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rs886041149
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NM_000061.3(BTK):c.1574G>A (p.Arg525Gln)
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rs128620183
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NM_000061.3(BTK):c.1580G>C (p.Cys527Ser)
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rs1057520578
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NM_000061.3(BTK):c.1581_1584del (p.Cys527fs)
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rs1555977592
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NM_000061.3(BTK):c.1589del (p.Asn530fs)
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rs2147425836
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NM_000061.3(BTK):c.1606A>T (p.Lys536Ter)
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NM_000061.3(BTK):c.161del (p.Gly54fs)
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rs1555980799
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NM_000061.3(BTK):c.1624_1625insGCGCCGGCGAGCGCCGCCCGGGAGGCAGCGGCTGGAGGAGCGGACGGGCCCCCCCGGGCCCGAGGGCAACGAGCAGACCCCAGCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAATAAAGTATCTGATTTCGGCC (p.Gly541_Leu542insArgAlaGlyGluArgArgProGlyGlySerGlyTrpArgSerGlyArgAlaProProGlyProArgAlaThrSerArgProGlnProXaaXaaXaaLysLysLysLysLysLysAsnLysValSerAspPheGly)
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NM_000061.3(BTK):c.1625T>C (p.Leu542Pro)
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rs128621203
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NM_000061.3(BTK):c.1630A>G (p.Arg544Gly)
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NM_000061.3(BTK):c.1630_1631+3delinsGAAA
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rs1555977580
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NM_000061.3(BTK):c.1631+1G>T
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rs1569291215
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NM_000061.3(BTK):c.1631+2T>C
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rs1926404536
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NM_000061.3(BTK):c.1632-2A>G
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rs886039555
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NM_000061.3(BTK):c.1632-2A>T
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rs886039555
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NM_000061.3(BTK):c.1641_1651del (p.Asp548fs)
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rs2147425053
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NM_000061.3(BTK):c.164dup (p.Ile56fs)
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rs2147447605
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NM_000061.3(BTK):c.1684C>T (p.Arg562Trp)
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rs128621204
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NM_000061.3(BTK):c.1685G>C (p.Arg562Pro)
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rs104894770
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NM_000061.3(BTK):c.1688G>A (p.Trp563Ter)
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rs1555977474
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NM_000061.3(BTK):c.1689G>A (p.Trp563Ter)
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NM_000061.3(BTK):c.1694dup (p.Pro566fs)
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NM_000061.3(BTK):c.1697C>G (p.Pro566Arg)
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rs1057521814
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NM_000061.3(BTK):c.1699G>T (p.Glu567Ter)
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rs1926380816
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NM_000061.3(BTK):c.1706T>C (p.Leu569Pro)
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rs1555977461
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NM_000061.3(BTK):c.1713_1714dup (p.Ser572fs)
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rs1603002367
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NM_000061.3(BTK):c.1725C>A (p.Ser575Arg)
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NM_000061.3(BTK):c.1741T>C (p.Trp581Arg)
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rs128621205
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NM_000061.3(BTK):c.1743G>A (p.Trp581Ter)
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NM_000061.3(BTK):c.1750+1G>A
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NM_000061.3(BTK):c.1750+1G>T
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NM_000061.3(BTK):c.1750+5G>A
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rs864321659
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NM_000061.3(BTK):c.1751-1G>A
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NM_000061.3(BTK):c.1751-1G>C
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rs1603001846
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NM_000061.3(BTK):c.1751-1G>T
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NM_000061.3(BTK):c.1751-2A>G
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NM_000061.3(BTK):c.1763G>A (p.Trp588Ter)
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rs1603001805
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NM_000061.3(BTK):c.1765G>T (p.Glu589Ter)
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rs1926358858
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NM_000061.3(BTK):c.1766A>G (p.Glu589Gly)
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rs128621206
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NM_000061.3(BTK):c.176AGA[1] (p.Lys60del)
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rs1603019594
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NM_000061.3(BTK):c.1773C>A (p.Tyr591Ter)
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rs128621207
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NM_000061.3(BTK):c.1780G>A (p.Gly594Arg)
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rs1555977339
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NM_000061.3(BTK):c.1780G>C (p.Gly594Arg)
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NM_000061.3(BTK):c.1781G>A (p.Gly594Glu)
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rs2147424186
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NM_000061.3(BTK):c.1784dup (p.Met596fs)
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rs1603001771
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NM_000061.3(BTK):c.1792T>A (p.Tyr598Asn)
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rs2147424169
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NM_000061.3(BTK):c.1820C>A (p.Ala607Asp)
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rs128621208
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NM_000061.3(BTK):c.1834C>T (p.Gln612Ter)
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NM_000061.3(BTK):c.1838G>A (p.Gly613Asp)
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rs128621209
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NM_000061.3(BTK):c.1864del (p.Ala622fs)
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|
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NM_000061.3(BTK):c.1880_1883dup (p.Ile629fs)
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rs2147424002
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NM_000061.3(BTK):c.1881_1882del (p.Thr628fs)
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|
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NM_000061.3(BTK):c.1889T>A (p.Met630Lys)
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rs128621210
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NM_000061.3(BTK):c.1889T>C (p.Met630Thr)
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rs128621210
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NM_000061.3(BTK):c.1893C>G (p.Tyr631Ter)
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|
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NM_000061.3(BTK):c.1906G>T (p.Glu636Ter)
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rs128622211
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NM_000061.3(BTK):c.1908_1909insTTTTAG (p.Lys637delinsPheTer)
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rs2147423959
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NM_000061.3(BTK):c.1921C>T (p.Arg641Cys)
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|
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NM_000061.3(BTK):c.1922G>A (p.Arg641His)
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rs1926220192
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NM_000061.3(BTK):c.1926del (p.Thr643fs)
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|
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NM_000061.3(BTK):c.1931T>C (p.Phe644Ser)
|
rs2147419969
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NM_000061.3(BTK):c.1946del (p.Ser649fs)
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rs1555976766
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NM_000061.3(BTK):c.1955T>C (p.Leu652Pro)
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rs128622212
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NM_000061.3(BTK):c.215del (p.Asn72fs)
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rs886041148
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NM_000061.3(BTK):c.215dup (p.Asn72fs)
|
rs886041148
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NM_000061.3(BTK):c.228_231del (p.Glu76fs)
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rs864321660
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NM_000061.3(BTK):c.232C>T (p.Gln78Ter)
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rs1603019535
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NM_000061.3(BTK):c.241-1G>C
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rs2147444958
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NM_000061.3(BTK):c.270del (p.Glu90fs)
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rs1603017538
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NM_000061.3(BTK):c.271C>T (p.Gln91Ter)
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|
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NM_000061.3(BTK):c.274del (p.Ile92fs)
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|
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NM_000061.3(BTK):c.278C>A (p.Ser93Ter)
|
rs1569295678
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NM_000061.3(BTK):c.280del (p.Ile94fs)
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|
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NM_000061.3(BTK):c.286G>T (p.Glu96Ter)
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|
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NM_000061.3(BTK):c.2T>C (p.Met1Thr)
|
rs128620186
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|
NM_000061.3(BTK):c.300T>A (p.Tyr100Ter)
|
rs1927036604
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|
NM_000061.3(BTK):c.307C>T (p.Gln103Ter)
|
rs886039657
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|
NM_000061.3(BTK):c.309+1G>A
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|
|
NM_000061.3(BTK):c.310-1G>C
|
rs864321662
|
|
NM_000061.3(BTK):c.310-2A>G
|
rs864321663
|
|
NM_000061.3(BTK):c.32T>C (p.Leu11Pro)
|
rs1603020228
|
|
NM_000061.3(BTK):c.334T>C (p.Tyr112His)
|
rs1926977049
|
|
NM_000061.3(BTK):c.336C>A (p.Tyr112Ter)
|
rs1409835623
|
|
NM_000061.3(BTK):c.336C>G (p.Tyr112Ter)
|
rs1409835623
|
|
NM_000061.3(BTK):c.338T>A (p.Val113Asp)
|
rs128621190
|
|
NM_000061.3(BTK):c.349A>C (p.Thr117Pro)
|
rs782820524
|
|
NM_000061.3(BTK):c.352del (p.Glu118fs)
|
rs1926975943
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|
NM_000061.3(BTK):c.355del (p.Glu119fs)
|
|
|
NM_000061.3(BTK):c.371G>A (p.Trp124Ter)
|
rs1555980049
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|
NM_000061.3(BTK):c.379del (p.Gln127fs)
|
|
|
NM_000061.3(BTK):c.37C>T (p.Arg13Ter)
|
rs128620187
|
|
NM_000061.3(BTK):c.389del (p.Asn130fs)
|
rs864321664
|
|
NM_000061.3(BTK):c.391+1G>A
|
rs2147443380
|
|
NM_000061.3(BTK):c.3G>A (p.Met1Ile)
|
rs1927172387
|
|
NM_000061.3(BTK):c.402C>A (p.Tyr134Ter)
|
|
|
NM_000061.3(BTK):c.41C>A (p.Ser14Tyr)
|
rs1057520682
|
|
NM_000061.3(BTK):c.435C>A (p.Cys145Ter)
|
rs1555978891
|
|
NM_000061.3(BTK):c.43C>T (p.Gln15Ter)
|
rs128620188
|
|
NM_000061.3(BTK):c.43del (p.Gln15fs)
|
|
|
NM_000061.3(BTK):c.441del (p.Phe146_Trp147insTer)
|
rs1926711302
|
|
NM_000061.3(BTK):c.456_457insACTT (p.Leu153fs)
|
|
|
NM_000061.3(BTK):c.465C>A (p.Cys155Ter)
|
rs1926710166
|
|
NM_000061.3(BTK):c.469C>T (p.Gln157Ter)
|
rs886041473
|
|
NM_000061.3(BTK):c.46C>T (p.Gln16Ter)
|
rs1555980888
|
|
NM_000061.3(BTK):c.472_475del (p.Thr158fs)
|
rs193922128
|
|
NM_000061.3(BTK):c.487del (p.Met163fs)
|
|
|
NM_000061.3(BTK):c.496C>T (p.Gln166Ter)
|
rs1926708861
|
|
NM_000061.3(BTK):c.513dup (p.Asn172fs)
|
|
|
NM_000061.3(BTK):c.520+1G>A
|
rs2147435832
|
|
NM_000061.3(BTK):c.521-1G>A
|
rs1926696248
|
|
NM_000061.3(BTK):c.549_550del (p.Lys183fs)
|
|
|
NM_000061.3(BTK):c.557dup (p.Pro187fs)
|
rs864321665
|
|
NM_000061.3(BTK):c.564del (p.Pro190fs)
|
rs1603009890
|
|
NM_000061.3(BTK):c.588+1G>A
|
|
|
NM_000061.3(BTK):c.588+1G>T
|
rs1569293252
|
|
NM_000061.3(BTK):c.588+2T>C
|
|
|
NM_000061.3(BTK):c.588_589insCTACATAG (p.Ile197fs)
|
rs1569293253
|
|
NM_000061.3(BTK):c.595A>T (p.Lys199Ter)
|
rs2147433246
|
|
NM_000061.3(BTK):c.62C>A (p.Ser21Ter)
|
rs2147448284
|
|
NM_000061.3(BTK):c.642_643del (p.Ser214fs)
|
rs1569292818
|
|
NM_000061.3(BTK):c.653del (p.Lys218fs)
|
rs1569292813
|
|
NM_000061.3(BTK):c.655del (p.Val219fs)
|
rs1569292810
|
|
NM_000061.3(BTK):c.669T>A (p.Tyr223Ter)
|
rs1057520612
|
|
NM_000061.3(BTK):c.680del (p.Pro227fs)
|
rs1603008449
|
|
NM_000061.3(BTK):c.718G>T (p.Glu240Ter)
|
rs128621191
|
|
NM_000061.3(BTK):c.721dup (p.Tyr241fs)
|
rs1603008381
|
|
NM_000061.3(BTK):c.726dup (p.Ile243fs)
|
rs1569292774
|
|
NM_000061.3(BTK):c.754del (p.Trp252fs)
|
|
|
NM_000061.3(BTK):c.755G>A (p.Trp252Ter)
|
rs128621192
|
|
NM_000061.3(BTK):c.756G>A (p.Trp252Ter)
|
rs1603008349
|
|
NM_000061.3(BTK):c.758_767del (p.Arg253fs)
|
|
|
NM_000061.3(BTK):c.763C>T (p.Arg255Ter)
|
rs128621193
|
|
NM_000061.3(BTK):c.777-1G>A
|
rs1603007942
|
|
NM_000061.3(BTK):c.777-2A>G
|
rs193922129
|
|
NM_000061.3(BTK):c.778C>T (p.Gln260Ter)
|
|
|
NM_000061.3(BTK):c.806del (p.Val269fs)
|
rs1926614700
|
|
NM_000061.3(BTK):c.829G>T (p.Glu277Ter)
|
rs868983143
|
|
NM_000061.3(BTK):c.82C>T (p.Arg28Cys)
|
rs1927168815
|
|
NM_000061.3(BTK):c.837T>A (p.Tyr279Ter)
|
rs1603007888
|
|
NM_000061.3(BTK):c.839+1G>A
|
rs1569292649
|
|
NM_000061.3(BTK):c.83G>A (p.Arg28His)
|
rs128620185
|
|
NM_000061.3(BTK):c.83G>T (p.Arg28Leu)
|
rs128620185
|
|
NM_000061.3(BTK):c.842G>A (p.Trp281Ter)
|
rs2147431031
|
|
NM_000061.3(BTK):c.862C>T (p.Arg288Trp)
|
rs128621194
|
|
NM_000061.3(BTK):c.863G>A (p.Arg288Gln)
|
rs1555978277
|
|
NM_000061.3(BTK):c.889C>T (p.Gln297Ter)
|
|
|
NM_000061.3(BTK):c.894+191_1908+163del
|
|
|
NM_000061.3(BTK):c.894+1G>A
|
rs1064793859
|
|
NM_000061.3(BTK):c.895-1G>T
|
rs1926563964
|
|
NM_000061.3(BTK):c.895-2A>G
|
rs193922132
|
|
NM_000061.3(BTK):c.895-2A>T
|
|
|
NM_000061.3(BTK):c.895-2del
|
rs2147430256
|
|
NM_000061.3(BTK):c.895-37_928del
|
rs1926563302
|
|
NM_000061.3(BTK):c.919A>G (p.Arg307Gly)
|
rs128621195
|
|
NM_000061.3(BTK):c.951_952del (p.Ser318fs)
|
|
|
NM_000061.3(BTK):c.953C>T (p.Ser318Phe)
|
rs1555978197
|
|
NM_000061.3(BTK):c.953_956del (p.Ser318fs)
|
|
|
NM_000061.3(BTK):c.957_958del (p.Phe320fs)
|
|
|
NM_000061.3(BTK):c.974+1G>A
|
|
|
NM_000061.3(BTK):c.974+1del
|
rs2147430166
|
|
NM_000061.3(BTK):c.975-1G>T
|
rs2147429973
|
|
NM_000061.3(BTK):c.97A>C (p.Thr33Pro)
|
rs128620189
|
|
NM_000061.3(BTK):c.991dup (p.Ile331fs)
|
rs2147429948
|
|
NM_000061.3(BTK):c.998A>G (p.His333Arg)
|
rs193922133
|
|