NM_001364905.1(LRBA):c.7879T>C (p.Trp2627Arg)
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rs200295901
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0.00009
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NM_001364905.1(LRBA):c.5906G>C (p.Gly1969Ala)
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rs745608560
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0.00004
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NM_001364905.1(LRBA):c.1043C>G (p.Ser348Ter)
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rs1192554889
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0.00001
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NM_001364905.1(LRBA):c.5645+2T>A
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rs1181595292
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0.00001
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NM_001364905.1(LRBA):c.5646-2A>T
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rs1297757024
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0.00001
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NM_001364905.1(LRBA):c.6607C>T (p.Arg2203Ter)
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rs1206185362
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0.00001
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NM_001364905.1(LRBA):c.7381C>T (p.Arg2461Ter)
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rs1004337827
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0.00001
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GRCh37/hg19 4q31.3(chr4:151186874-151186964)x1
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GRCh37/hg19 4q31.3(chr4:151199005-151199156)x1
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GRCh37/hg19 4q31.3(chr4:151203602-151203798)x1
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GRCh37/hg19 4q31.3(chr4:151207085-151207186)x1
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NC_000004.11:g.(?_151604683)_(151604889_?)dup
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NM_001364905.1(LRBA):c.1319del (p.Pro440fs)
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NM_001364905.1(LRBA):c.1691del (p.Leu564fs)
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rs2127154945
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NM_001364905.1(LRBA):c.1923_1924+11del
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rs755373718
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NM_001364905.1(LRBA):c.1924+2T>A
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rs1730552437
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NM_001364905.1(LRBA):c.2149C>T (p.Gln717Ter)
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NM_001364905.1(LRBA):c.216+1G>C
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NM_001364905.1(LRBA):c.2166-1G>C
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rs2127009232
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NM_001364905.1(LRBA):c.2197G>T (p.Glu733Ter)
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NM_001364905.1(LRBA):c.2258+2T>G
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rs1579059727
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NM_001364905.1(LRBA):c.2259-2A>G
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rs2127004616
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NM_001364905.1(LRBA):c.2449+1G>A
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NM_001364905.1(LRBA):c.2449C>T (p.Gln817Ter)
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NM_001364905.1(LRBA):c.2767-2A>G
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rs1350061017
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NM_001364905.1(LRBA):c.3076C>T (p.Gln1026Ter)
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rs1578999313
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NM_001364905.1(LRBA):c.4158+1G>C
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NM_001364905.1(LRBA):c.4159-1G>T
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rs1750245794
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NM_001364905.1(LRBA):c.4239del (p.Val1414fs)
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rs2126905499
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NM_001364905.1(LRBA):c.4466del (p.Pro1489fs)
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|
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NM_001364905.1(LRBA):c.459del (p.Asp154fs)
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rs2149508421
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NM_001364905.1(LRBA):c.476_549+580del
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|
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NM_001364905.1(LRBA):c.4801C>T (p.Arg1601Ter)
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rs1484948342
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NM_001364905.1(LRBA):c.5011dup (p.Ser1671fs)
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NM_001364905.1(LRBA):c.5424_5434del (p.Ala1808_Pro1809insTer)
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rs1553965868
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NM_001364905.1(LRBA):c.5518+2T>C
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rs532289025
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NM_001364905.1(LRBA):c.5519-1G>A
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rs1302362911
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NM_001364905.1(LRBA):c.5617_5620del (p.Ala1873fs)
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rs1553956151
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NM_001364905.1(LRBA):c.5645+1G>C
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NM_001364905.1(LRBA):c.5755-1G>C
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NM_001364905.1(LRBA):c.5921+1G>A
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NM_001364905.1(LRBA):c.6079C>T (p.Gln2027Ter)
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rs2126458818
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NM_001364905.1(LRBA):c.6194-2A>G
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NM_001364905.1(LRBA):c.6331-2A>G
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rs2152104087
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NM_001364905.1(LRBA):c.6447_6448del (p.Arg2149fs)
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rs1561254290
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NM_001364905.1(LRBA):c.6551+1G>T
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NM_001364905.1(LRBA):c.7363-1G>T
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NM_001364905.1(LRBA):c.7389dup (p.Gly2464fs)
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NM_001364905.1(LRBA):c.7836_7840del (p.Ser2613fs)
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rs1580974401
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NM_001364905.1(LRBA):c.7849+2T>C
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rs1553996145
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NM_001364905.1(LRBA):c.7850-1G>A
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rs1729842757
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NM_001364905.1(LRBA):c.8142_8145dup (p.Asn2716fs)
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rs1264504989
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NM_001364905.1(LRBA):c.8422G>T (p.Gly2808Ter)
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rs1171694504
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NM_001364905.1(LRBA):c.863del (p.His288fs)
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rs2149489382
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